##SnpEffVersion="4.1a (build 2015-01-14), by Pablo Cingolani" ##SnpEffCmd="SnpEff GRCh37.75 examples/test.chr22.vcf " ##INFO= ##INFO= ##INFO= #CHROM POS ID REF ALT QUAL FILTER INFO 22 17071756 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|CCT8L2|ENSG00000198445|transcript|ENST00000359963|protein_coding|1/1|c.*11A>G|||||11|,C|downstream_gene_variant|MODIFIER|FABP5P11|ENSG00000240122|transcript|ENST00000430910|processed_pseudogene||n.*397A>G|||||4223| 22 17072035 . C T . . ANN=T|missense_variant|MODERATE|CCT8L2|ENSG00000198445|transcript|ENST00000359963|protein_coding|1/1|c.1406G>A|p.Gly469Glu|1666/2034|1406/1674|469/557||,T|downstream_gene_variant|MODIFIER|FABP5P11|ENSG00000240122|transcript|ENST00000430910|processed_pseudogene||n.*397G>A|||||3944| 22 17072258 . C A . . ANN=A|missense_variant|MODERATE|CCT8L2|ENSG00000198445|transcript|ENST00000359963|protein_coding|1/1|c.1183G>T|p.Gly395Cys|1443/2034|1183/1674|395/557||,A|downstream_gene_variant|MODIFIER|FABP5P11|ENSG00000240122|transcript|ENST00000430910|processed_pseudogene||n.*397G>T|||||3721| 22 17072674 . G A . . ANN=A|missense_variant|MODERATE|CCT8L2|ENSG00000198445|transcript|ENST00000359963|protein_coding|1/1|c.767C>T|p.Pro256Leu|1027/2034|767/1674|256/557||,A|downstream_gene_variant|MODIFIER|FABP5P11|ENSG00000240122|transcript|ENST00000430910|processed_pseudogene||n.*397C>T|||||3305| 22 17072747 . T C . . ANN=C|missense_variant|MODERATE|CCT8L2|ENSG00000198445|transcript|ENST00000359963|protein_coding|1/1|c.694A>G|p.Met232Val|954/2034|694/1674|232/557||,C|downstream_gene_variant|MODIFIER|FABP5P11|ENSG00000240122|transcript|ENST00000430910|processed_pseudogene||n.*397A>G|||||3232| 22 17072781 . C T . . ANN=T|synonymous_variant|LOW|CCT8L2|ENSG00000198445|transcript|ENST00000359963|protein_coding|1/1|c.660G>A|p.Pro220Pro|920/2034|660/1674|220/557||,T|downstream_gene_variant|MODIFIER|FABP5P11|ENSG00000240122|transcript|ENST00000430910|processed_pseudogene||n.*397G>A|||||3198| 22 17073043 . C T . . ANN=T|missense_variant|MODERATE|CCT8L2|ENSG00000198445|transcript|ENST00000359963|protein_coding|1/1|c.398G>A|p.Arg133Gln|658/2034|398/1674|133/557||,T|downstream_gene_variant|MODIFIER|FABP5P11|ENSG00000240122|transcript|ENST00000430910|processed_pseudogene||n.*397G>A|||||2936| 22 17073066 . A G . . ANN=G|synonymous_variant|LOW|CCT8L2|ENSG00000198445|transcript|ENST00000359963|protein_coding|1/1|c.375T>C|p.Ala125Ala|635/2034|375/1674|125/557||,G|downstream_gene_variant|MODIFIER|FABP5P11|ENSG00000240122|transcript|ENST00000430910|processed_pseudogene||n.*397T>C|||||2913| 22 17073119 . C T . . ANN=T|missense_variant|MODERATE|CCT8L2|ENSG00000198445|transcript|ENST00000359963|protein_coding|1/1|c.322G>A|p.Val108Met|582/2034|322/1674|108/557||,T|downstream_gene_variant|MODIFIER|FABP5P11|ENSG00000240122|transcript|ENST00000430910|processed_pseudogene||n.*397G>A|||||2860| 22 17073131 . C T . . ANN=T|missense_variant|MODERATE|CCT8L2|ENSG00000198445|transcript|ENST00000359963|protein_coding|1/1|c.310G>A|p.Gly104Ser|570/2034|310/1674|104/557||,T|downstream_gene_variant|MODIFIER|FABP5P11|ENSG00000240122|transcript|ENST00000430910|processed_pseudogene||n.*397G>A|||||2848| 22 17073134 . C A . . ANN=A|missense_variant|MODERATE|CCT8L2|ENSG00000198445|transcript|ENST00000359963|protein_coding|1/1|c.307G>T|p.Asp103Tyr|567/2034|307/1674|103/557||,A|downstream_gene_variant|MODIFIER|FABP5P11|ENSG00000240122|transcript|ENST00000430910|processed_pseudogene||n.*397G>T|||||2845| 22 17073145 . T G . . ANN=G|missense_variant|MODERATE|CCT8L2|ENSG00000198445|transcript|ENST00000359963|protein_coding|1/1|c.296A>C|p.Glu99Ala|556/2034|296/1674|99/557||,G|downstream_gene_variant|MODIFIER|FABP5P11|ENSG00000240122|transcript|ENST00000430910|processed_pseudogene||n.*397A>C|||||2834| 22 17073148 . G A . . ANN=A|missense_variant|MODERATE|CCT8L2|ENSG00000198445|transcript|ENST00000359963|protein_coding|1/1|c.293C>T|p.Ala98Val|553/2034|293/1674|98/557||,A|downstream_gene_variant|MODIFIER|FABP5P11|ENSG00000240122|transcript|ENST00000430910|processed_pseudogene||n.*397C>T|||||2831| 22 17073150 . C T . . ANN=T|synonymous_variant|LOW|CCT8L2|ENSG00000198445|transcript|ENST00000359963|protein_coding|1/1|c.291G>A|p.Gln97Gln|551/2034|291/1674|97/557||,T|downstream_gene_variant|MODIFIER|FABP5P11|ENSG00000240122|transcript|ENST00000430910|processed_pseudogene||n.*397G>A|||||2829| 22 17073153 . G C . . ANN=C|synonymous_variant|LOW|CCT8L2|ENSG00000198445|transcript|ENST00000359963|protein_coding|1/1|c.288C>G|p.Thr96Thr|548/2034|288/1674|96/557||,C|downstream_gene_variant|MODIFIER|FABP5P11|ENSG00000240122|transcript|ENST00000430910|processed_pseudogene||n.*397C>G|||||2826| 22 17073178 . C T . . ANN=T|stop_gained|HIGH|CCT8L2|ENSG00000198445|transcript|ENST00000359963|protein_coding|1/1|c.263G>A|p.Trp88*|523/2034|263/1674|88/557||,T|downstream_gene_variant|MODIFIER|FABP5P11|ENSG00000240122|transcript|ENST00000430910|processed_pseudogene||n.*397G>A|||||2801| 22 17073198 . C T . . ANN=T|synonymous_variant|LOW|CCT8L2|ENSG00000198445|transcript|ENST00000359963|protein_coding|1/1|c.243G>A|p.Glu81Glu|503/2034|243/1674|81/557||,T|downstream_gene_variant|MODIFIER|FABP5P11|ENSG00000240122|transcript|ENST00000430910|processed_pseudogene||n.*397G>A|||||2781| 22 17073275 . G A . . ANN=A|missense_variant|MODERATE|CCT8L2|ENSG00000198445|transcript|ENST00000359963|protein_coding|1/1|c.166C>T|p.Arg56Trp|426/2034|166/1674|56/557||,A|downstream_gene_variant|MODIFIER|FABP5P11|ENSG00000240122|transcript|ENST00000430910|processed_pseudogene||n.*397C>T|||||2704| 22 17073466 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|CCT8L2|ENSG00000198445|transcript|ENST00000359963|protein_coding|1/1|c.-26G>A|||||26|,T|downstream_gene_variant|MODIFIER|FABP5P11|ENSG00000240122|transcript|ENST00000430910|processed_pseudogene||n.*397G>A|||||2513| 22 17073475 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|CCT8L2|ENSG00000198445|transcript|ENST00000359963|protein_coding|1/1|c.-35G>A|||||35|,T|downstream_gene_variant|MODIFIER|FABP5P11|ENSG00000240122|transcript|ENST00000430910|processed_pseudogene||n.*397G>A|||||2504| 22 17280774 . T C . . ANN=C|missense_variant|MODERATE|XKR3|ENSG00000172967|transcript|ENST00000331428|protein_coding|3/4|c.476A>G|p.Gln159Arg|579/1690|476/1380|159/459|| 22 17280778 . T C . . ANN=C|missense_variant|MODERATE|XKR3|ENSG00000172967|transcript|ENST00000331428|protein_coding|3/4|c.472A>G|p.Met158Val|575/1690|472/1380|158/459|| 22 17280822 . G A . . ANN=A|missense_variant|MODERATE|XKR3|ENSG00000172967|transcript|ENST00000331428|protein_coding|3/4|c.428C>T|p.Thr143Met|531/1690|428/1380|143/459|| 22 17280882 . C A . . ANN=A|missense_variant|MODERATE|XKR3|ENSG00000172967|transcript|ENST00000331428|protein_coding|3/4|c.368G>T|p.Trp123Leu|471/1690|368/1380|123/459|| 22 17280889 . G A . . ANN=A|missense_variant|MODERATE|XKR3|ENSG00000172967|transcript|ENST00000331428|protein_coding|3/4|c.361C>T|p.His121Tyr|464/1690|361/1380|121/459|| 22 17280941 . T C . . ANN=C|sequence_feature|LOW|XKR3|ENSG00000172967|transmembrane_region:Transmembrane_region|ENST00000331428|protein_coding|2/4|c.336-27A>G||||||,C|sequence_feature|LOW|XKR3|ENSG00000172967|transmembrane_region:Transmembrane_region|ENST00000331428|protein_coding|3/4|c.336-27A>G||||||,C|intron_variant|MODIFIER|XKR3|ENSG00000172967|transcript|ENST00000331428|protein_coding|2/3|c.336-27A>G|||||| 22 17288581 . C T . . ANN=T|sequence_feature|LOW|XKR3|ENSG00000172967|transmembrane_region:Transmembrane_region|ENST00000331428|protein_coding|2/4|c.335+48G>A||||||,T|sequence_feature|LOW|XKR3|ENSG00000172967|transmembrane_region:Transmembrane_region|ENST00000331428|protein_coding|3/4|c.335+48G>A||||||,T|intron_variant|MODIFIER|XKR3|ENSG00000172967|transcript|ENST00000331428|protein_coding|2/3|c.335+48G>A|||||| 22 17288641 . C A . . ANN=A|missense_variant|MODERATE|XKR3|ENSG00000172967|transcript|ENST00000331428|protein_coding|2/4|c.323G>T|p.Gly108Val|426/1690|323/1380|108/459||,A|sequence_feature|LOW|XKR3|ENSG00000172967|transmembrane_region:Transmembrane_region|ENST00000331428|protein_coding|2/4|c.323G>T||||||,A|sequence_feature|LOW|XKR3|ENSG00000172967|transmembrane_region:Transmembrane_region|ENST00000331428|protein_coding|3/4|c.323G>T|||||| 22 17288849 . A G . . ANN=G|missense_variant|MODERATE|XKR3|ENSG00000172967|transcript|ENST00000331428|protein_coding|2/4|c.115T>C|p.Phe39Leu|218/1690|115/1380|39/459||,G|sequence_feature|LOW|XKR3|ENSG00000172967|transmembrane_region:Transmembrane_region|ENST00000331428|protein_coding|2/4|c.115T>C|||||| 22 17288988 . T C . . ANN=C|intron_variant|MODIFIER|XKR3|ENSG00000172967|transcript|ENST00000331428|protein_coding|1/3|c.-10-15A>G|||||| 22 17444582 . G A . . ANN=A|downstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000520505|processed_transcript||n.*170C>T|||||2408|,A|downstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript||n.*594C>T|||||3609|,A|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|9/9|c.1581+33C>T||||||,A|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|8/8|n.*1706+33C>T|||||| 22 17444640 . G A . . ANN=A|missense_variant|MODERATE|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|9/10|c.1556C>T|p.Ala519Val|1664/2630|1556/1725|519/574||,A|3_prime_UTR_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|8/9|n.*1681C>T|||||4579|,A|downstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000520505|processed_transcript||n.*170C>T|||||2350|,A|downstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript||n.*594C>T|||||3551|,A|non_coding_exon_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|8/9|n.*1681C>T|||||| 22 17444714 . C T . . ANN=T|synonymous_variant|LOW|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|9/10|c.1482G>A|p.Pro494Pro|1590/2630|1482/1725|494/574||,T|3_prime_UTR_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|8/9|n.*1607G>A|||||4505|,T|downstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000520505|processed_transcript||n.*170G>A|||||2276|,T|downstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript||n.*594G>A|||||3477|,T|non_coding_exon_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|8/9|n.*1607G>A|||||| 22 17444748 . A G . . ANN=G|downstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000520505|processed_transcript||n.*170T>C|||||2242|,G|downstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript||n.*594T>C|||||3443|,G|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|8/9|c.1477-29T>C||||||,G|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|7/8|n.*1602-29T>C|||||| 22 17445640 . AC A . . ANN=|downstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000520505|processed_transcript||n.*170delG|||||1349|,|downstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript||n.*594delG|||||2550|,|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|8/9|c.1476+15delG||||||,|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|7/8|n.*1601+15delG|||||| 22 17445710 . C T . . ANN=T|synonymous_variant|LOW|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|8/10|c.1422G>A|p.Thr474Thr|1530/2630|1422/1725|474/574||,T|3_prime_UTR_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|7/9|n.*1547G>A|||||3509|,T|downstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000520505|processed_transcript||n.*170G>A|||||1280|,T|downstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript||n.*594G>A|||||2481|,T|non_coding_exon_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|7/9|n.*1547G>A|||||| 22 17445711 . G A . . ANN=A|missense_variant|MODERATE|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|8/10|c.1421C>T|p.Thr474Met|1529/2630|1421/1725|474/574||,A|3_prime_UTR_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|7/9|n.*1546C>T|||||3508|,A|downstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000520505|processed_transcript||n.*170C>T|||||1279|,A|downstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript||n.*594C>T|||||2480|,A|non_coding_exon_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|7/9|n.*1546C>T|||||| 22 17445734 . G A . . ANN=A|synonymous_variant|LOW|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|8/10|c.1398C>T|p.Ser466Ser|1506/2630|1398/1725|466/574||,A|3_prime_UTR_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|7/9|n.*1523C>T|||||3485|,A|downstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000520505|processed_transcript||n.*170C>T|||||1256|,A|downstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript||n.*594C>T|||||2457|,A|non_coding_exon_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|7/9|n.*1523C>T|||||| 22 17446153 . G C . . ANN=C|missense_variant|MODERATE|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|7/10|c.1294C>G|p.Pro432Ala|1402/2630|1294/1725|432/574||,C|3_prime_UTR_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|6/9|n.*1419C>G|||||3066|,C|downstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000520505|processed_transcript||n.*170C>G|||||837|,C|downstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript||n.*594C>G|||||2038|,C|non_coding_exon_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|6/9|n.*1419C>G|||||| 22 17446157 . G T . . ANN=T|splice_region_variant&synonymous_variant|LOW|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|7/10|c.1290C>A|p.Ala430Ala|1398/2630|1290/1725|430/574||,T|splice_region_variant&non_coding_exon_variant|LOW|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|6/9|n.*1415C>A||||||,T|3_prime_UTR_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|6/9|n.*1415C>A|||||3062|,T|downstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000520505|processed_transcript||n.*170C>A|||||833|,T|downstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript||n.*594C>A|||||2034| 22 17446991 . C T . . ANN=T|splice_region_variant&synonymous_variant|LOW|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|6/10|c.1287G>A|p.Lys429Lys|1395/2630|1287/1725|429/574||,T|splice_region_variant&non_coding_exon_variant|LOW|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|5/9|n.*1412G>A||||||,T|splice_region_variant&non_coding_exon_variant|LOW|GAB4|ENSG00000215568|transcript|ENST00000520505|processed_transcript|2/2|n.169G>A||||||,T|3_prime_UTR_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|5/9|n.*1412G>A|||||2228|,T|downstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript||n.*594G>A|||||1200| 22 17446995 . T C . . ANN=C|missense_variant|MODERATE|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|6/10|c.1283A>G|p.Gln428Arg|1391/2630|1283/1725|428/574||,C|3_prime_UTR_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|5/9|n.*1408A>G|||||2224|,C|downstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript||n.*594A>G|||||1196|,C|non_coding_exon_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|5/9|n.*1408A>G||||||,C|non_coding_exon_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000520505|processed_transcript|2/2|n.165A>G|||||| 22 17447036 . C G . . ANN=G|missense_variant|MODERATE|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|6/10|c.1242G>C|p.Glu414Asp|1350/2630|1242/1725|414/574||,G|3_prime_UTR_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|5/9|n.*1367G>C|||||2183|,G|downstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript||n.*594G>C|||||1155|,G|non_coding_exon_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|5/9|n.*1367G>C||||||,G|non_coding_exon_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000520505|processed_transcript|2/2|n.124G>C|||||| 22 17447138 . C G . . ANN=G|missense_variant|MODERATE|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|6/10|c.1140G>C|p.Gln380His|1248/2630|1140/1725|380/574||,G|3_prime_UTR_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|5/9|n.*1265G>C|||||2081|,G|downstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript||n.*594G>C|||||1053|,G|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000520505|processed_transcript|1/1|n.87-65G>C||||||,G|non_coding_exon_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|5/9|n.*1265G>C|||||| 22 17447173 . G A . . ANN=A|synonymous_variant|LOW|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|6/10|c.1105C>T|p.Leu369Leu|1213/2630|1105/1725|369/574||,A|3_prime_UTR_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|5/9|n.*1230C>T|||||2046|,A|downstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript||n.*594C>T|||||1018|,A|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000520505|processed_transcript|1/1|n.87-100C>T||||||,A|non_coding_exon_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|5/9|n.*1230C>T|||||| 22 17447184 . C G . . ANN=G|missense_variant|MODERATE|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|6/10|c.1094G>C|p.Gly365Ala|1202/2630|1094/1725|365/574||,G|3_prime_UTR_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|5/9|n.*1219G>C|||||2035|,G|downstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript||n.*594G>C|||||1007|,G|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000520505|processed_transcript|1/1|n.87-111G>C||||||,G|non_coding_exon_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|5/9|n.*1219G>C|||||| 22 17447237 . C G . . ANN=G|synonymous_variant|LOW|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|6/10|c.1041G>C|p.Val347Val|1149/2630|1041/1725|347/574||,G|3_prime_UTR_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|5/9|n.*1166G>C|||||1982|,G|downstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript||n.*594G>C|||||954|,G|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000520505|processed_transcript|1/1|n.87-164G>C||||||,G|non_coding_exon_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|5/9|n.*1166G>C|||||| 22 17447241 . A G . . ANN=G|missense_variant|MODERATE|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|6/10|c.1037T>C|p.Leu346Pro|1145/2630|1037/1725|346/574||,G|3_prime_UTR_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|5/9|n.*1162T>C|||||1978|,G|downstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript||n.*594T>C|||||950|,G|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000520505|processed_transcript|1/1|n.87-168T>C||||||,G|non_coding_exon_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|5/9|n.*1162T>C|||||| 22 17449238 . T C . . ANN=C|missense_variant|MODERATE|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|5/10|c.973A>G|p.Asn325Asp|1081/2630|973/1725|325/574||,C|non_coding_exon_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|4/9|n.554A>G||||||,C|non_coding_exon_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000520505|processed_transcript|1/2|n.36A>G||||||,C|non_coding_exon_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript|3/4|n.399A>G|||||| 22 17449263 . G A . . ANN=A|synonymous_variant|LOW|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|5/10|c.948C>T|p.Gly316Gly|1056/2630|948/1725|316/574||,A|non_coding_exon_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|4/9|n.529C>T||||||,A|non_coding_exon_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000520505|processed_transcript|1/2|n.11C>T||||||,A|non_coding_exon_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript|3/4|n.374C>T|||||| 22 17450920 . T C . . ANN=C|missense_variant|MODERATE|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|4/10|c.850A>G|p.Arg284Gly|958/2630|850/1725|284/574||,C|upstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000520505|processed_transcript||n.-1A>G|||||1647|,C|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|3/8|n.519-1647A>G||||||,C|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript|2/3|n.364-1647A>G|||||| 22 17450929 . C T . . ANN=T|missense_variant|MODERATE|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|4/10|c.841G>A|p.Ala281Thr|949/2630|841/1725|281/574||,T|upstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000520505|processed_transcript||n.-1G>A|||||1656|,T|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|3/8|n.519-1656G>A||||||,T|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript|2/3|n.364-1656G>A|||||| 22 17450952 . A G . . ANN=G|missense_variant|MODERATE|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|4/10|c.818T>C|p.Leu273Pro|926/2630|818/1725|273/574||,G|upstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000520505|processed_transcript||n.-1T>C|||||1679|,G|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|3/8|n.519-1679T>C||||||,G|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript|2/3|n.364-1679T>C|||||| 22 17450969 . G A . . ANN=A|synonymous_variant|LOW|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|4/10|c.801C>T|p.Ile267Ile|909/2630|801/1725|267/574||,A|upstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000520505|processed_transcript||n.-1C>T|||||1696|,A|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|3/8|n.519-1696C>T||||||,A|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript|2/3|n.364-1696C>T|||||| 22 17450978 . G A . . ANN=A|synonymous_variant|LOW|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|4/10|c.792C>T|p.Ser264Ser|900/2630|792/1725|264/574||,A|upstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000520505|processed_transcript||n.-1C>T|||||1705|,A|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|3/8|n.519-1705C>T||||||,A|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript|2/3|n.364-1705C>T|||||| 22 17451081 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|4/10|c.689G>A|p.Ser230Asn|797/2630|689/1725|230/574||,T|upstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000520505|processed_transcript||n.-1G>A|||||1808|,T|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|3/8|n.519-1808G>A||||||,T|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript|2/3|n.364-1808G>A|||||| 22 17451120 . A T . . ANN=T|upstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000520505|processed_transcript||n.-1T>A|||||1847|,T|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|3/9|c.687-37T>A||||||,T|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|3/8|n.519-1847T>A||||||,T|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript|2/3|n.364-1847T>A|||||| 22 17451123 . A T . . ANN=T|upstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000520505|processed_transcript||n.-1T>A|||||1850|,T|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|3/9|c.687-40T>A||||||,T|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|3/8|n.519-1850T>A||||||,T|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript|2/3|n.364-1850T>A|||||| 22 17468815 . G A . . ANN=A|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|3/9|c.686+35C>T||||||,A|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|3/8|n.518+35C>T||||||,A|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript|2/3|n.363+3948C>T|||||| 22 17468873 . G A . . ANN=A|synonymous_variant|LOW|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|3/10|c.663C>T|p.Ala221Ala|771/2630|663/1725|221/574||,A|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript|2/3|n.363+3890C>T||||||,A|non_coding_exon_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|3/9|n.495C>T|||||| 22 17468875 . C T . . ANN=T|missense_variant|MODERATE|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|3/10|c.661G>A|p.Ala221Thr|769/2630|661/1725|221/574||,T|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript|2/3|n.363+3888G>A||||||,T|non_coding_exon_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|3/9|n.493G>A|||||| 22 17468886 . G A . . ANN=A|missense_variant|MODERATE|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|3/10|c.650C>T|p.Ser217Leu|758/2630|650/1725|217/574||,A|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript|2/3|n.363+3877C>T||||||,A|non_coding_exon_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|3/9|n.482C>T|||||| 22 17468901 . G A . . ANN=A|missense_variant|MODERATE|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|3/10|c.635C>T|p.Pro212Leu|743/2630|635/1725|212/574||,A|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript|2/3|n.363+3862C>T||||||,A|non_coding_exon_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|3/9|n.467C>T|||||| 22 17468918 . C A . . ANN=A|missense_variant|MODERATE|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|3/10|c.618G>T|p.Trp206Cys|726/2630|618/1725|206/574||,A|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript|2/3|n.363+3845G>T||||||,A|non_coding_exon_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|3/9|n.450G>T|||||| 22 17468948 . G A . . ANN=A|synonymous_variant|LOW|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|3/10|c.588C>T|p.Pro196Pro|696/2630|588/1725|196/574||,A|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript|2/3|n.363+3815C>T||||||,A|non_coding_exon_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|3/9|n.420C>T|||||| 22 17469026 . G A . . ANN=A|synonymous_variant|LOW|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|3/10|c.510C>T|p.His170His|618/2630|510/1725|170/574||,A|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|2/8|n.362-20C>T||||||,A|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript|2/3|n.363+3737C>T|||||| 22 17469049 . C A . . ANN=A|stop_gained|HIGH|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|3/10|c.487G>T|p.Gly163*|595/2630|487/1725|163/574||,A|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|2/8|n.362-43G>T||||||,A|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript|2/3|n.363+3714G>T||||||;LOF=(GAB4|ENSG00000215568|4|0.25);NMD=(GAB4|ENSG00000215568|4|0.25) 22 17469056 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|3/10|c.480C>T|p.Gly160Gly|588/2630|480/1725|160/574||,A|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|2/8|n.362-50C>T||||||,A|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript|2/3|n.363+3707C>T|||||| 22 17472785 . G A . . ANN=A|synonymous_variant|LOW|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|2/10|c.456C>T|p.Gly152Gly|564/2630|456/1725|152/574||,A|sequence_feature|LOW|GAB4|ENSG00000215568|domain:PH|ENST00000400588|protein_coding|2/10|c.456C>T||||||,A|sequence_feature|LOW|GAB4|ENSG00000215568|domain:PH|ENST00000400588|protein_coding|1/10|c.456C>T||||||,A|non_coding_exon_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|2/9|n.339C>T||||||,A|non_coding_exon_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript|2/4|n.341C>T|||||| 22 17472860 . C T . . ANN=T|synonymous_variant|LOW|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|2/10|c.381G>A|p.Glu127Glu|489/2630|381/1725|127/574||,T|sequence_feature|LOW|GAB4|ENSG00000215568|domain:PH|ENST00000400588|protein_coding|2/10|c.381G>A||||||,T|sequence_feature|LOW|GAB4|ENSG00000215568|domain:PH|ENST00000400588|protein_coding|1/10|c.381G>A||||||,T|non_coding_exon_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|2/9|n.264G>A||||||,T|non_coding_exon_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript|2/4|n.266G>A|||||| 22 17472967 . G T . . ANN=T|missense_variant|MODERATE|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|2/10|c.274C>A|p.Arg92Ser|382/2630|274/1725|92/574||,T|sequence_feature|LOW|GAB4|ENSG00000215568|domain:PH|ENST00000400588|protein_coding|2/10|c.274C>A||||||,T|sequence_feature|LOW|GAB4|ENSG00000215568|domain:PH|ENST00000400588|protein_coding|1/10|c.274C>A||||||,T|non_coding_exon_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|2/9|n.157C>A||||||,T|non_coding_exon_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript|2/4|n.159C>A|||||| 22 17472983 . G A . . ANN=A|synonymous_variant|LOW|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|2/10|c.258C>T|p.Gly86Gly|366/2630|258/1725|86/574||,A|sequence_feature|LOW|GAB4|ENSG00000215568|domain:PH|ENST00000400588|protein_coding|2/10|c.258C>T||||||,A|sequence_feature|LOW|GAB4|ENSG00000215568|domain:PH|ENST00000400588|protein_coding|1/10|c.258C>T||||||,A|non_coding_exon_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|2/9|n.141C>T||||||,A|non_coding_exon_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript|2/4|n.143C>T|||||| 22 17473071 . G C . . ANN=C|splice_region_variant&intron_variant|LOW|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|1/9|c.175-5C>G||||||,C|splice_region_variant&intron_variant|LOW|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|1/8|n.58-5C>G||||||,C|splice_region_variant&intron_variant|LOW|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript|1/3|n.60-5C>G||||||,C|sequence_feature|LOW|GAB4|ENSG00000215568|domain:PH|ENST00000400588|protein_coding|2/10|c.175-5C>G||||||,C|sequence_feature|LOW|GAB4|ENSG00000215568|domain:PH|ENST00000400588|protein_coding|1/10|c.175-5C>G|||||| 22 17488793 . C T . . ANN=T|sequence_feature|LOW|GAB4|ENSG00000215568|domain:PH|ENST00000400588|protein_coding|2/10|c.174+38G>A||||||,T|sequence_feature|LOW|GAB4|ENSG00000215568|domain:PH|ENST00000400588|protein_coding|1/10|c.174+38G>A||||||,T|upstream_gene_variant|MODIFIER|AC006548.26|ENSG00000270226|transcript|ENST00000605217|processed_pseudogene||n.-1C>T|||||4501|,T|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|1/9|c.174+38G>A||||||,T|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|1/8|n.57+38G>A||||||,T|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript|1/3|n.59+38G>A|||||| 22 17488823 . C CG . . ANN=G|splice_region_variant&intron_variant|LOW|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|1/9|c.174+7_174+8insC||||||,G|splice_region_variant&intron_variant|LOW|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|1/8|n.57+7_57+8insC||||||,G|splice_region_variant&intron_variant|LOW|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript|1/3|n.59+7_59+8insC||||||,G|sequence_feature|LOW|GAB4|ENSG00000215568|domain:PH|ENST00000400588|protein_coding|2/10|c.174+7_174+8insC||||||,G|sequence_feature|LOW|GAB4|ENSG00000215568|domain:PH|ENST00000400588|protein_coding|1/10|c.174+7_174+8insC||||||,G|upstream_gene_variant|MODIFIER|AC006548.26|ENSG00000270226|transcript|ENST00000605217|processed_pseudogene||n.-1_-1insG|||||4470| 22 17488938 . A G . . ANN=G|missense_variant|MODERATE|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|1/10|c.67T>C|p.Ser23Pro|175/2630|67/1725|23/574||,G|upstream_gene_variant|MODIFIER|AC006548.26|ENSG00000270226|transcript|ENST00000605217|processed_pseudogene||n.-1A>G|||||4356|,G|upstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay||n.-3T>C|||||49|,G|upstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript||n.-1T>C|||||49| 22 17488995 . G A . . ANN=A|missense_variant|MODERATE|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|1/10|c.10C>T|p.Pro4Ser|118/2630|10/1725|4/574||,A|upstream_gene_variant|MODIFIER|AC006548.26|ENSG00000270226|transcript|ENST00000605217|processed_pseudogene||n.-1G>A|||||4299|,A|upstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay||n.-3C>T|||||106|,A|upstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript||n.-1C>T|||||106| 22 17489005 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|1/10|c.-1C>T|||||1|,A|upstream_gene_variant|MODIFIER|AC006548.26|ENSG00000270226|transcript|ENST00000605217|processed_pseudogene||n.-1G>A|||||4289|,A|upstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay||n.-3C>T|||||116|,A|upstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript||n.-1C>T|||||116| 22 17565932 . T C . . ANN=C|5_prime_UTR_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|1/13|c.-50T>C|||||50|,C|upstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000459971|retained_intron||n.-1T>C|||||15|,C|downstream_gene_variant|MODIFIER|AC006946.17|ENSG00000273442|transcript|ENST00000609791|lincRNA||n.*756T>C|||||3586|,C|non_coding_exon_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000477874|processed_transcript|1/4|n.89T>C|||||| 22 17565974 . G C . . ANN=C|5_prime_UTR_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|1/13|c.-8G>C|||||8|,C|downstream_gene_variant|MODIFIER|AC006946.17|ENSG00000273442|transcript|ENST00000609791|lincRNA||n.*756G>C|||||3628|,C|non_coding_exon_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000477874|processed_transcript|1/4|n.131G>C||||||,C|non_coding_exon_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000459971|retained_intron|1/2|n.28G>C|||||| 22 17577965 . C T . . ANN=T|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|2/13|c.152C>T|p.Thr51Met|285/8607|152/2601|51/866||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|11/13|c.152C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|2/13|c.152C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|8/13|c.152C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|9/13|c.152C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|5/13|c.152C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|6/13|c.152C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|1/13|c.152C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|10/13|c.152C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|7/13|c.152C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|4/13|c.152C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|3/13|c.152C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|beta_strand|ENST00000319363|protein_coding|2/13|c.152C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|beta_strand|ENST00000319363|protein_coding|3/13|c.152C>T||||||,T|upstream_gene_variant|MODIFIER|AC006946.12|ENSG00000235328|transcript|ENST00000429106|processed_pseudogene||n.-1G>A|||||3136|,T|intron_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000477874|processed_transcript|1/3|n.277-722C>T||||||,T|non_coding_exon_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000459971|retained_intron|2/2|n.187C>T|||||| 22 17577994 . GTTC G . . ANN=|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|11/13|c.163+19_163+21delTTC||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|2/13|c.163+19_163+21delTTC||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|8/13|c.163+19_163+21delTTC||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|9/13|c.163+19_163+21delTTC||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|5/13|c.163+19_163+21delTTC||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|6/13|c.163+19_163+21delTTC||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|1/13|c.163+19_163+21delTTC||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|10/13|c.163+19_163+21delTTC||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|7/13|c.163+19_163+21delTTC||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|4/13|c.163+19_163+21delTTC||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|3/13|c.163+19_163+21delTTC||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|beta_strand|ENST00000319363|protein_coding|2/13|c.163+19_163+21delTTC||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|beta_strand|ENST00000319363|protein_coding|3/13|c.163+19_163+21delTTC||||||,|upstream_gene_variant|MODIFIER|AC006946.12|ENSG00000235328|transcript|ENST00000429106|processed_pseudogene||n.-1_-1delGAA|||||3166|,|intron_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|2/12|c.163+27_163+29delCTT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000477874|processed_transcript|1/3|n.277-684_277-682delCTT||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000459971|retained_intron|2/2|n.225_227delCTT||||||INFO_REALIGN_3_PRIME 22 17578008 . T C . . ANN=C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|11/13|c.163+32T>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|2/13|c.163+32T>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|8/13|c.163+32T>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|9/13|c.163+32T>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|5/13|c.163+32T>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|6/13|c.163+32T>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|1/13|c.163+32T>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|10/13|c.163+32T>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|7/13|c.163+32T>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|4/13|c.163+32T>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|3/13|c.163+32T>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|beta_strand|ENST00000319363|protein_coding|2/13|c.163+32T>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|beta_strand|ENST00000319363|protein_coding|3/13|c.163+32T>C||||||,C|upstream_gene_variant|MODIFIER|AC006946.12|ENSG00000235328|transcript|ENST00000429106|processed_pseudogene||n.-1A>G|||||3179|,C|intron_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|2/12|c.163+32T>C||||||,C|intron_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000477874|processed_transcript|1/3|n.277-679T>C||||||,C|non_coding_exon_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000459971|retained_intron|2/2|n.230T>C|||||| 22 17578680 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|2/12|c.164-7C>T||||||,T|splice_region_variant&intron_variant|LOW|IL17RA|ENSG00000177663|transcript|ENST00000477874|processed_transcript|1/3|n.277-7C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|11/13|c.164-7C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|2/13|c.164-7C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|8/13|c.164-7C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|9/13|c.164-7C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|5/13|c.164-7C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|6/13|c.164-7C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|1/13|c.164-7C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|10/13|c.164-7C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|7/13|c.164-7C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|4/13|c.164-7C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|3/13|c.164-7C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|beta_strand|ENST00000319363|protein_coding|2/13|c.164-7C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|beta_strand|ENST00000319363|protein_coding|3/13|c.164-7C>T||||||,T|upstream_gene_variant|MODIFIER|AC006946.12|ENSG00000235328|transcript|ENST00000429106|processed_pseudogene||n.-1G>A|||||3851|,T|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000459971|retained_intron||n.*621C>T|||||281| 22 17578788 . G A . . ANN=A|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|3/13|c.265G>A|p.Asp89Asn|398/8607|265/2601|89/866||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|11/13|c.265G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|2/13|c.265G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|8/13|c.265G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|9/13|c.265G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|5/13|c.265G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|6/13|c.265G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|1/13|c.265G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|10/13|c.265G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|7/13|c.265G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|4/13|c.265G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|3/13|c.265G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|disulfide_bond|ENST00000319363|protein_coding|4/13|c.265G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|disulfide_bond|ENST00000319363|protein_coding|3/13|c.265G>A||||||,A|upstream_gene_variant|MODIFIER|AC006946.12|ENSG00000235328|transcript|ENST00000429106|processed_pseudogene||n.-1C>T|||||3959|,A|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000459971|retained_intron||n.*621G>A|||||389|,A|non_coding_exon_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000477874|processed_transcript|2/4|n.378G>A|||||| 22 17578842 . G T . . ANN=T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|11/13|c.310+9G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|2/13|c.310+9G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|8/13|c.310+9G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|9/13|c.310+9G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|5/13|c.310+9G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|6/13|c.310+9G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|1/13|c.310+9G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|10/13|c.310+9G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|7/13|c.310+9G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|4/13|c.310+9G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|3/13|c.310+9G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|disulfide_bond|ENST00000319363|protein_coding|4/13|c.310+9G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|disulfide_bond|ENST00000319363|protein_coding|3/13|c.310+9G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|helix|ENST00000319363|protein_coding|4/13|c.310+9G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|helix|ENST00000319363|protein_coding|3/13|c.310+9G>T||||||,T|upstream_gene_variant|MODIFIER|AC006946.12|ENSG00000235328|transcript|ENST00000429106|processed_pseudogene||n.-1C>A|||||4013|,T|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000459971|retained_intron||n.*621G>T|||||443|,T|intron_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|3/12|c.310+9G>T||||||,T|intron_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000477874|processed_transcript|2/3|n.423+9G>T|||||| 22 17579761 . G A . . ANN=A|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|4/13|c.407G>A|p.Arg136Lys|540/8607|407/2601|136/866||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|11/13|c.407G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|2/13|c.407G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|8/13|c.407G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|9/13|c.407G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|5/13|c.407G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|6/13|c.407G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|1/13|c.407G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|10/13|c.407G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|7/13|c.407G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|4/13|c.407G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|3/13|c.407G>A||||||,A|upstream_gene_variant|MODIFIER|AC006946.12|ENSG00000235328|transcript|ENST00000429106|processed_pseudogene||n.-1C>T|||||4932|,A|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000459971|retained_intron||n.*621G>A|||||1362|,A|non_coding_exon_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000477874|processed_transcript|3/4|n.520G>A|||||| 22 17579825 . T C . . ANN=C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|11/13|c.423+48T>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|2/13|c.423+48T>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|8/13|c.423+48T>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|9/13|c.423+48T>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|5/13|c.423+48T>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|6/13|c.423+48T>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|1/13|c.423+48T>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|10/13|c.423+48T>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|7/13|c.423+48T>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|4/13|c.423+48T>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|3/13|c.423+48T>C||||||,C|upstream_gene_variant|MODIFIER|AC006946.12|ENSG00000235328|transcript|ENST00000429106|processed_pseudogene||n.-1A>G|||||4996|,C|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000459971|retained_intron||n.*621T>C|||||1426|,C|intron_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|4/12|c.423+48T>C||||||,C|intron_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000477874|processed_transcript|3/3|n.536+48T>C|||||| 22 17581199 . G C . . ANN=C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|11/13|c.424-46G>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|2/13|c.424-46G>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|8/13|c.424-46G>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|9/13|c.424-46G>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|5/13|c.424-46G>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|6/13|c.424-46G>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|1/13|c.424-46G>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|10/13|c.424-46G>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|7/13|c.424-46G>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|4/13|c.424-46G>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|3/13|c.424-46G>C||||||,C|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000459971|retained_intron||n.*621G>C|||||2800|,C|intron_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|4/12|c.424-46G>C||||||,C|intron_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000477874|processed_transcript|3/3|n.537-46G>C|||||| 22 17581208 . G A . . ANN=A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|11/13|c.424-37G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|2/13|c.424-37G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|8/13|c.424-37G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|9/13|c.424-37G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|5/13|c.424-37G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|6/13|c.424-37G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|1/13|c.424-37G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|10/13|c.424-37G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|7/13|c.424-37G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|4/13|c.424-37G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|3/13|c.424-37G>A||||||,A|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000459971|retained_intron||n.*621G>A|||||2809|,A|intron_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|4/12|c.424-37G>A||||||,A|intron_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000477874|processed_transcript|3/3|n.537-37G>A|||||| 22 17581224 . C T . . ANN=T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|11/13|c.424-21C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|2/13|c.424-21C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|8/13|c.424-21C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|9/13|c.424-21C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|5/13|c.424-21C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|6/13|c.424-21C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|1/13|c.424-21C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|10/13|c.424-21C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|7/13|c.424-21C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|4/13|c.424-21C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|3/13|c.424-21C>T||||||,T|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000459971|retained_intron||n.*621C>T|||||2825|,T|intron_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|4/12|c.424-21C>T||||||,T|intron_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000477874|processed_transcript|3/3|n.537-21C>T|||||| 22 17581248 . C T . . ANN=T|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|5/13|c.427C>T|p.Arg143Cys|560/8607|427/2601|143/866||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|11/13|c.427C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|2/13|c.427C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|8/13|c.427C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|9/13|c.427C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|5/13|c.427C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|6/13|c.427C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|1/13|c.427C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|10/13|c.427C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|7/13|c.427C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|4/13|c.427C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|3/13|c.427C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|beta_strand|ENST00000319363|protein_coding|5/13|c.427C>T||||||,T|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000459971|retained_intron||n.*621C>T|||||2849|,T|non_coding_exon_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000477874|processed_transcript|4/4|n.540C>T|||||| 22 17581286 . G C . . ANN=C|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|5/13|c.465G>C|p.Gln155His|598/8607|465/2601|155/866||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|11/13|c.465G>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|2/13|c.465G>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|8/13|c.465G>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|9/13|c.465G>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|5/13|c.465G>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|6/13|c.465G>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|1/13|c.465G>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|10/13|c.465G>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|7/13|c.465G>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|4/13|c.465G>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|3/13|c.465G>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|beta_strand|ENST00000319363|protein_coding|5/13|c.465G>C||||||,C|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000459971|retained_intron||n.*621G>C|||||2887|,C|non_coding_exon_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000477874|processed_transcript|4/4|n.578G>C|||||| 22 17582877 . G T . . ANN=T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|11/13|c.551-9G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|2/13|c.551-9G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|8/13|c.551-9G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|9/13|c.551-9G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|5/13|c.551-9G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|6/13|c.551-9G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|1/13|c.551-9G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|10/13|c.551-9G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|7/13|c.551-9G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|4/13|c.551-9G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|3/13|c.551-9G>T||||||,T|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000477874|processed_transcript||n.*651G>T|||||1518|,T|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000459971|retained_intron||n.*621G>T|||||4478|,T|intron_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|5/12|c.551-9G>T|||||| 22 17582958 . T C . . ANN=C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|11/13|c.598+25T>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|2/13|c.598+25T>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|8/13|c.598+25T>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|9/13|c.598+25T>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|5/13|c.598+25T>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|6/13|c.598+25T>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|1/13|c.598+25T>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|10/13|c.598+25T>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|7/13|c.598+25T>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|4/13|c.598+25T>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|3/13|c.598+25T>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|turn|ENST00000319363|protein_coding|6/13|c.598+25T>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|turn|ENST00000319363|protein_coding|7/13|c.598+25T>C||||||,C|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000477874|processed_transcript||n.*651T>C|||||1599|,C|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000459971|retained_intron||n.*621T>C|||||4559|,C|intron_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|6/12|c.598+25T>C|||||| 22 17582971 . ACACATG A . . ANN=|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|11/13|c.598+39_598+44delCACATG||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|2/13|c.598+39_598+44delCACATG||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|8/13|c.598+39_598+44delCACATG||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|9/13|c.598+39_598+44delCACATG||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|5/13|c.598+39_598+44delCACATG||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|6/13|c.598+39_598+44delCACATG||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|1/13|c.598+39_598+44delCACATG||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|10/13|c.598+39_598+44delCACATG||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|7/13|c.598+39_598+44delCACATG||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|4/13|c.598+39_598+44delCACATG||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|3/13|c.598+39_598+44delCACATG||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|turn|ENST00000319363|protein_coding|6/13|c.598+39_598+44delCACATG||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|turn|ENST00000319363|protein_coding|7/13|c.598+39_598+44delCACATG||||||,|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000477874|processed_transcript||n.*651_*651delCACATG|||||1613|,|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000459971|retained_intron||n.*621_*621delCACATG|||||4573|,|intron_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|6/12|c.598+45_599-46delCACATG||||||INFO_REALIGN_3_PRIME 22 17582986 . C T . . ANN=T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|11/13|c.599-43C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|2/13|c.599-43C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|8/13|c.599-43C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|9/13|c.599-43C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|5/13|c.599-43C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|6/13|c.599-43C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|1/13|c.599-43C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|10/13|c.599-43C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|7/13|c.599-43C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|4/13|c.599-43C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|3/13|c.599-43C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|turn|ENST00000319363|protein_coding|6/13|c.599-43C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|turn|ENST00000319363|protein_coding|7/13|c.599-43C>T||||||,T|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000477874|processed_transcript||n.*651C>T|||||1627|,T|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000459971|retained_intron||n.*621C>T|||||4587|,T|intron_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|6/12|c.599-43C>T|||||| 22 17582987 . G A . . ANN=A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|11/13|c.599-42G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|2/13|c.599-42G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|8/13|c.599-42G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|9/13|c.599-42G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|5/13|c.599-42G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|6/13|c.599-42G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|1/13|c.599-42G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|10/13|c.599-42G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|7/13|c.599-42G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|4/13|c.599-42G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|3/13|c.599-42G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|turn|ENST00000319363|protein_coding|6/13|c.599-42G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|turn|ENST00000319363|protein_coding|7/13|c.599-42G>A||||||,A|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000477874|processed_transcript||n.*651G>A|||||1628|,A|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000459971|retained_intron||n.*621G>A|||||4588|,A|intron_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|6/12|c.599-42G>A|||||| 22 17583012 . G A . . ANN=A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|11/13|c.599-17G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|2/13|c.599-17G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|8/13|c.599-17G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|9/13|c.599-17G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|5/13|c.599-17G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|6/13|c.599-17G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|1/13|c.599-17G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|10/13|c.599-17G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|7/13|c.599-17G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|4/13|c.599-17G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|3/13|c.599-17G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|turn|ENST00000319363|protein_coding|6/13|c.599-17G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|turn|ENST00000319363|protein_coding|7/13|c.599-17G>A||||||,A|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000477874|processed_transcript||n.*651G>A|||||1653|,A|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000459971|retained_intron||n.*621G>A|||||4613|,A|intron_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|6/12|c.599-17G>A|||||| 22 17583085 . G T . . ANN=T|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|7/13|c.655G>T|p.Val219Leu|788/8607|655/2601|219/866||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|11/13|c.655G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|2/13|c.655G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|8/13|c.655G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|9/13|c.655G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|5/13|c.655G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|6/13|c.655G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|1/13|c.655G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|10/13|c.655G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|7/13|c.655G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|4/13|c.655G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|3/13|c.655G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|beta_strand|ENST00000319363|protein_coding|7/13|c.655G>T||||||,T|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000477874|processed_transcript||n.*651G>T|||||1726|,T|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000459971|retained_intron||n.*621G>T|||||4686| 22 17583212 . C T . . ANN=T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|11/13|c.762+20C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|2/13|c.762+20C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|8/13|c.762+20C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|9/13|c.762+20C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|5/13|c.762+20C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|6/13|c.762+20C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|1/13|c.762+20C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|10/13|c.762+20C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|7/13|c.762+20C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|4/13|c.762+20C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|3/13|c.762+20C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|disulfide_bond|ENST00000319363|protein_coding|8/13|c.762+20C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|disulfide_bond|ENST00000319363|protein_coding|7/13|c.762+20C>T||||||,T|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000477874|processed_transcript||n.*651C>T|||||1853|,T|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000459971|retained_intron||n.*621C>T|||||4813|,T|intron_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|7/12|c.762+20C>T|||||| 22 17584369 . C T . . ANN=T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|11/13|c.763-15C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|2/13|c.763-15C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|8/13|c.763-15C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|9/13|c.763-15C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|5/13|c.763-15C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|6/13|c.763-15C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|1/13|c.763-15C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|10/13|c.763-15C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|7/13|c.763-15C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|4/13|c.763-15C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|3/13|c.763-15C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|disulfide_bond|ENST00000319363|protein_coding|8/13|c.763-15C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|disulfide_bond|ENST00000319363|protein_coding|7/13|c.763-15C>T||||||,T|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000477874|processed_transcript||n.*651C>T|||||3010|,T|intron_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|7/12|c.763-15C>T|||||| 22 17584386 . C T . . ANN=T|splice_region_variant&synonymous_variant|LOW|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|8/13|c.765C>T|p.Pro255Pro|898/8607|765/2601|255/866||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|11/13|c.765C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|2/13|c.765C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|8/13|c.765C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|9/13|c.765C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|5/13|c.765C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|6/13|c.765C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|1/13|c.765C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|10/13|c.765C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|7/13|c.765C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|4/13|c.765C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|3/13|c.765C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|disulfide_bond|ENST00000319363|protein_coding|8/13|c.765C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|disulfide_bond|ENST00000319363|protein_coding|7/13|c.765C>T||||||,T|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000477874|processed_transcript||n.*651C>T|||||3027| 22 17584454 . G A . . ANN=A|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|8/13|c.833G>A|p.Arg278His|966/8607|833/2601|278/866||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|11/13|c.833G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|2/13|c.833G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|8/13|c.833G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|9/13|c.833G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|5/13|c.833G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|6/13|c.833G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|1/13|c.833G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|10/13|c.833G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|7/13|c.833G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|4/13|c.833G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|3/13|c.833G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|beta_strand|ENST00000319363|protein_coding|8/13|c.833G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|beta_strand|ENST00000319363|protein_coding|9/13|c.833G>A||||||,A|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000477874|processed_transcript||n.*651G>A|||||3095| 22 17585624 . C G . . ANN=G|synonymous_variant|LOW|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|9/13|c.855C>G|p.Pro285Pro|988/8607|855/2601|285/866||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|11/13|c.855C>G||||||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|2/13|c.855C>G||||||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|8/13|c.855C>G||||||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|9/13|c.855C>G||||||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|5/13|c.855C>G||||||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|6/13|c.855C>G||||||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|1/13|c.855C>G||||||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|10/13|c.855C>G||||||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|7/13|c.855C>G||||||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|4/13|c.855C>G||||||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|3/13|c.855C>G||||||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|beta_strand|ENST00000319363|protein_coding|8/13|c.855C>G||||||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|beta_strand|ENST00000319363|protein_coding|9/13|c.855C>G||||||,G|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000477874|processed_transcript||n.*651C>G|||||4265| 22 17585642 . C T . . ANN=T|synonymous_variant|LOW|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|9/13|c.873C>T|p.Leu291Leu|1006/8607|873/2601|291/866||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|11/13|c.873C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|2/13|c.873C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|8/13|c.873C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|9/13|c.873C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|5/13|c.873C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|6/13|c.873C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|1/13|c.873C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|10/13|c.873C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|7/13|c.873C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|4/13|c.873C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|3/13|c.873C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|disulfide_bond|ENST00000319363|protein_coding|9/13|c.873C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|helix|ENST00000319363|protein_coding|9/13|c.873C>T||||||,T|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000477874|processed_transcript||n.*651C>T|||||4283| 22 17585658 . C T . . ANN=T|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|9/13|c.889C>T|p.His297Tyr|1022/8607|889/2601|297/866||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|11/13|c.889C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|2/13|c.889C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|8/13|c.889C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|9/13|c.889C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|5/13|c.889C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|6/13|c.889C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|1/13|c.889C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|10/13|c.889C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|7/13|c.889C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|4/13|c.889C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|3/13|c.889C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|beta_strand|ENST00000319363|protein_coding|9/13|c.889C>T||||||,T|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000477874|processed_transcript||n.*651C>T|||||4299| 22 17585668 . C T . . ANN=T|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|9/13|c.899C>T|p.Thr300Ile|1032/8607|899/2601|300/866||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|11/13|c.899C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|2/13|c.899C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|8/13|c.899C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|9/13|c.899C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|5/13|c.899C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|6/13|c.899C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|1/13|c.899C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|10/13|c.899C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|7/13|c.899C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|4/13|c.899C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|3/13|c.899C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|beta_strand|ENST00000319363|protein_coding|9/13|c.899C>T||||||,T|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000477874|processed_transcript||n.*651C>T|||||4309| 22 17585703 . AG A . . ANN=|splice_region_variant&intron_variant|LOW|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|9/12|c.931+7delG||||||INFO_REALIGN_3_PRIME,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|11/13|c.931+4delG||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|2/13|c.931+4delG||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|8/13|c.931+4delG||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|9/13|c.931+4delG||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|5/13|c.931+4delG||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|6/13|c.931+4delG||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|1/13|c.931+4delG||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|10/13|c.931+4delG||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|7/13|c.931+4delG||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|4/13|c.931+4delG||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|3/13|c.931+4delG||||||,|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000477874|processed_transcript||n.*651delG|||||4345| 22 17585739 . A G . . ANN=G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|11/13|c.931+39A>G||||||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|2/13|c.931+39A>G||||||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|8/13|c.931+39A>G||||||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|9/13|c.931+39A>G||||||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|5/13|c.931+39A>G||||||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|6/13|c.931+39A>G||||||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|1/13|c.931+39A>G||||||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|10/13|c.931+39A>G||||||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|7/13|c.931+39A>G||||||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|4/13|c.931+39A>G||||||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|3/13|c.931+39A>G||||||,G|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000477874|processed_transcript||n.*651A>G|||||4380|,G|intron_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|9/12|c.931+39A>G|||||| 22 17586471 . C T . . ANN=T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|11/13|c.932-10C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|2/13|c.932-10C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|8/13|c.932-10C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|9/13|c.932-10C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|5/13|c.932-10C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|6/13|c.932-10C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|1/13|c.932-10C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|10/13|c.932-10C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|7/13|c.932-10C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|4/13|c.932-10C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|3/13|c.932-10C>T||||||,T|intron_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|9/12|c.932-10C>T|||||| 22 17586491 . G A,C,T . . ANN=A|splice_region_variant&synonymous_variant|LOW|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|10/13|c.942G>A|p.Pro314Pro|1075/8607|942/2601|314/866||,C|splice_region_variant&synonymous_variant|LOW|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|10/13|c.942G>C|p.Pro314Pro|1075/8607|942/2601|314/866||,T|splice_region_variant&synonymous_variant|LOW|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|10/13|c.942G>T|p.Pro314Pro|1075/8607|942/2601|314/866||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|11/13|c.942G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|2/13|c.942G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|8/13|c.942G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|9/13|c.942G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|5/13|c.942G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|6/13|c.942G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|1/13|c.942G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|10/13|c.942G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|7/13|c.942G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|4/13|c.942G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|3/13|c.942G>A||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|11/13|c.942G>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|2/13|c.942G>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|8/13|c.942G>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|9/13|c.942G>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|5/13|c.942G>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|6/13|c.942G>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|1/13|c.942G>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|10/13|c.942G>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|7/13|c.942G>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|4/13|c.942G>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|3/13|c.942G>C||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|11/13|c.942G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|2/13|c.942G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|8/13|c.942G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|9/13|c.942G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|5/13|c.942G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|6/13|c.942G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|1/13|c.942G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|10/13|c.942G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|7/13|c.942G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|4/13|c.942G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|3/13|c.942G>T|||||| 22 17586513 . G A . . ANN=A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|11/13|c.943+21G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|2/13|c.943+21G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|8/13|c.943+21G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|9/13|c.943+21G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|5/13|c.943+21G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|6/13|c.943+21G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|1/13|c.943+21G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|10/13|c.943+21G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|7/13|c.943+21G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|4/13|c.943+21G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|3/13|c.943+21G>A||||||,A|intron_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|10/12|c.943+21G>A|||||| 22 17586714 . CATCA C . . ANN=|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|11/13|c.944-28_944-25delATCA||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|2/13|c.944-28_944-25delATCA||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|8/13|c.944-28_944-25delATCA||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|9/13|c.944-28_944-25delATCA||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|5/13|c.944-28_944-25delATCA||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|6/13|c.944-28_944-25delATCA||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|1/13|c.944-28_944-25delATCA||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|10/13|c.944-28_944-25delATCA||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|7/13|c.944-28_944-25delATCA||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|4/13|c.944-28_944-25delATCA||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|3/13|c.944-28_944-25delATCA||||||,|intron_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|10/12|c.944-28_944-25delATCA|||||| 22 17586715 . ATCAC A . . ANN=|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|11/13|c.944-27_944-24delTCAC||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|2/13|c.944-27_944-24delTCAC||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|8/13|c.944-27_944-24delTCAC||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|9/13|c.944-27_944-24delTCAC||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|5/13|c.944-27_944-24delTCAC||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|6/13|c.944-27_944-24delTCAC||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|1/13|c.944-27_944-24delTCAC||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|10/13|c.944-27_944-24delTCAC||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|7/13|c.944-27_944-24delTCAC||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|4/13|c.944-27_944-24delTCAC||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|3/13|c.944-27_944-24delTCAC||||||,|intron_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|10/12|c.944-23_944-20delTCAC||||||INFO_REALIGN_3_PRIME 22 17586720 . TCACG T . . ANN=|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|11/13|c.944-22_944-19delCACG||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|2/13|c.944-22_944-19delCACG||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|8/13|c.944-22_944-19delCACG||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|9/13|c.944-22_944-19delCACG||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|5/13|c.944-22_944-19delCACG||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|6/13|c.944-22_944-19delCACG||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|1/13|c.944-22_944-19delCACG||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|10/13|c.944-22_944-19delCACG||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|7/13|c.944-22_944-19delCACG||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|4/13|c.944-22_944-19delCACG||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|3/13|c.944-22_944-19delCACG||||||,|intron_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|10/12|c.944-21_944-18delACGC||||||INFO_REALIGN_3_PRIME 22 17586751 . C T . . ANN=T|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|11/13|c.952C>T|p.Pro318Ser|1085/8607|952/2601|318/866||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|11/13|c.952C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|2/13|c.952C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|8/13|c.952C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|9/13|c.952C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|5/13|c.952C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|6/13|c.952C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|1/13|c.952C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|10/13|c.952C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|7/13|c.952C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|4/13|c.952C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|3/13|c.952C>T|||||| 22 17586757 . T C . . ANN=C|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|11/13|c.958T>C|p.Trp320Arg|1091/8607|958/2601|320/866||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|11/13|c.958T>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|2/13|c.958T>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|8/13|c.958T>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|9/13|c.958T>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|5/13|c.958T>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|6/13|c.958T>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|1/13|c.958T>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|10/13|c.958T>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|7/13|c.958T>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|4/13|c.958T>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|3/13|c.958T>C|||||| 22 17586777 . G A . . ANN=A|synonymous_variant|LOW|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|11/13|c.978G>A|p.Thr326Thr|1111/8607|978/2601|326/866||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|transmembrane_region:Transmembrane_region|ENST00000319363|protein_coding|11/13|c.978G>A|||||| 22 17586887 . A G . . ANN=G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|11/13|c.1045+43A>G||||||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|13/13|c.1045+43A>G||||||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|12/13|c.1045+43A>G||||||,G|intron_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|11/12|c.1045+43A>G|||||| 22 17588578 . C G . . ANN=G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|11/13|c.1046-39C>G||||||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|13/13|c.1046-39C>G||||||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|12/13|c.1046-39C>G||||||,G|intron_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|11/12|c.1046-39C>G|||||| 22 17588588 . C A . . ANN=A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|11/13|c.1046-29C>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|13/13|c.1046-29C>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|12/13|c.1046-29C>A||||||,A|intron_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|11/12|c.1046-29C>A|||||| 22 17589152 . T G . . ANN=G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|11/13|c.1088-45T>G||||||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|13/13|c.1088-45T>G||||||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|12/13|c.1088-45T>G||||||,G|intron_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|12/12|c.1088-45T>G|||||| 22 17589158 . C G . . ANN=G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|11/13|c.1088-39C>G||||||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|13/13|c.1088-39C>G||||||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|12/13|c.1088-39C>G||||||,G|intron_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|12/12|c.1088-39C>G|||||| 22 17589209 . C T . . ANN=T|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|13/13|c.1100C>T|p.Ala367Val|1233/8607|1100/2601|367/866||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|11/13|c.1100C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|13/13|c.1100C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|12/13|c.1100C>T|||||| 22 17589225 . C T . . ANN=T|synonymous_variant|LOW|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|13/13|c.1116C>T|p.Pro372Pro|1249/8607|1116/2601|372/866||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|11/13|c.1116C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|13/13|c.1116C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|12/13|c.1116C>T|||||| 22 17589231 . G A . . ANN=A|synonymous_variant|LOW|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|13/13|c.1122G>A|p.Pro374Pro|1255/8607|1122/2601|374/866||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|11/13|c.1122G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|13/13|c.1122G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|12/13|c.1122G>A|||||| 22 17589246 . G A . . ANN=A|synonymous_variant|LOW|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|13/13|c.1137G>A|p.Lys379Lys|1270/8607|1137/2601|379/866||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|11/13|c.1137G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|13/13|c.1137G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|12/13|c.1137G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|domain:SEFIR|ENST00000319363|protein_coding|13/13|c.1137G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|beta_strand|ENST00000319363|protein_coding|13/13|c.1137G>A|||||| 22 17589283 . G T . . ANN=T|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|13/13|c.1174G>T|p.Val392Leu|1307/8607|1174/2601|392/866||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|11/13|c.1174G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|13/13|c.1174G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|12/13|c.1174G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|domain:SEFIR|ENST00000319363|protein_coding|13/13|c.1174G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|helix|ENST00000319363|protein_coding|13/13|c.1174G>T|||||| 22 17589297 . G A . . ANN=A|synonymous_variant|LOW|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|13/13|c.1188G>A|p.Leu396Leu|1321/8607|1188/2601|396/866||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|11/13|c.1188G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|13/13|c.1188G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|12/13|c.1188G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|domain:SEFIR|ENST00000319363|protein_coding|13/13|c.1188G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|helix|ENST00000319363|protein_coding|13/13|c.1188G>A|||||| 22 17589341 . C T . . ANN=T|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|13/13|c.1232C>T|p.Ala411Val|1365/8607|1232/2601|411/866||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|11/13|c.1232C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|13/13|c.1232C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|12/13|c.1232C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|domain:SEFIR|ENST00000319363|protein_coding|13/13|c.1232C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|beta_strand|ENST00000319363|protein_coding|13/13|c.1232C>T|||||| 22 17589362 . A C . . ANN=C|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|13/13|c.1253A>C|p.Gln418Pro|1386/8607|1253/2601|418/866||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|11/13|c.1253A>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|13/13|c.1253A>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|12/13|c.1253A>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|domain:SEFIR|ENST00000319363|protein_coding|13/13|c.1253A>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|helix|ENST00000319363|protein_coding|13/13|c.1253A>C|||||| 22 17589412 . G A . . ANN=A|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|13/13|c.1303G>A|p.Glu435Lys|1436/8607|1303/2601|435/866||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|11/13|c.1303G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|13/13|c.1303G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|12/13|c.1303G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|domain:SEFIR|ENST00000319363|protein_coding|13/13|c.1303G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|helix|ENST00000319363|protein_coding|13/13|c.1303G>A|||||| 22 17589447 . G A . . ANN=A|synonymous_variant|LOW|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|13/13|c.1338G>A|p.Leu446Leu|1471/8607|1338/2601|446/866||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|11/13|c.1338G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|13/13|c.1338G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|12/13|c.1338G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|domain:SEFIR|ENST00000319363|protein_coding|13/13|c.1338G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|beta_strand|ENST00000319363|protein_coding|13/13|c.1338G>A|||||| 22 17589490 . C T . . ANN=T|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|13/13|c.1381C>T|p.Arg461Trp|1514/8607|1381/2601|461/866||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|11/13|c.1381C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|13/13|c.1381C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|12/13|c.1381C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|domain:SEFIR|ENST00000319363|protein_coding|13/13|c.1381C>T|||||| 22 17589516 . C T . . ANN=T|synonymous_variant|LOW|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|13/13|c.1407C>T|p.Cys469Cys|1540/8607|1407/2601|469/866||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|11/13|c.1407C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|13/13|c.1407C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|12/13|c.1407C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|domain:SEFIR|ENST00000319363|protein_coding|13/13|c.1407C>T|||||| 22 17589521 . A G . . ANN=G|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|13/13|c.1412A>G|p.His471Arg|1545/8607|1412/2601|471/866||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|11/13|c.1412A>G||||||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|13/13|c.1412A>G||||||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|12/13|c.1412A>G||||||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|domain:SEFIR|ENST00000319363|protein_coding|13/13|c.1412A>G|||||| 22 17589567 . C T . . ANN=T|synonymous_variant|LOW|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|13/13|c.1458C>T|p.Ile486Ile|1591/8607|1458/2601|486/866||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|11/13|c.1458C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|13/13|c.1458C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|12/13|c.1458C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|domain:SEFIR|ENST00000319363|protein_coding|13/13|c.1458C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|helix|ENST00000319363|protein_coding|13/13|c.1458C>T|||||| 22 17589639 . C T . . ANN=T|synonymous_variant|LOW|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|13/13|c.1530C>T|p.Asp510Asp|1663/8607|1530/2601|510/866||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|11/13|c.1530C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|13/13|c.1530C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|12/13|c.1530C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|domain:SEFIR|ENST00000319363|protein_coding|13/13|c.1530C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|helix|ENST00000319363|protein_coding|13/13|c.1530C>T|||||| 22 17589753 . C T . . ANN=T|synonymous_variant|LOW|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|13/13|c.1644C>T|p.His548His|1777/8607|1644/2601|548/866||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|11/13|c.1644C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|13/13|c.1644C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|12/13|c.1644C>T|||||| 22 17589794 . C A . . ANN=A|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|13/13|c.1685C>A|p.Pro562Gln|1818/8607|1685/2601|562/866||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|11/13|c.1685C>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|13/13|c.1685C>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|12/13|c.1685C>A|||||| 22 17589798 . C T . . ANN=T|synonymous_variant|LOW|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|13/13|c.1689C>T|p.Gly563Gly|1822/8607|1689/2601|563/866||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|11/13|c.1689C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|13/13|c.1689C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|12/13|c.1689C>T|||||| 22 17589856 . G C . . ANN=C|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|13/13|c.1747G>C|p.Asp583His|1880/8607|1747/2601|583/866||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|11/13|c.1747G>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|13/13|c.1747G>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|12/13|c.1747G>C|||||| 22 17589928 . G A . . ANN=A|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|13/13|c.1819G>A|p.Glu607Lys|1952/8607|1819/2601|607/866||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|11/13|c.1819G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|13/13|c.1819G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|12/13|c.1819G>A|||||| 22 17589948 . G C . . ANN=C|synonymous_variant|LOW|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|13/13|c.1839G>C|p.Pro613Pro|1972/8607|1839/2601|613/866||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|11/13|c.1839G>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|13/13|c.1839G>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|12/13|c.1839G>C|||||| 22 17590006 . C G . . ANN=G|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|13/13|c.1897C>G|p.Leu633Val|2030/8607|1897/2601|633/866||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|11/13|c.1897C>G||||||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|13/13|c.1897C>G||||||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|12/13|c.1897C>G|||||| 22 17590180 . G A . . ANN=A|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|13/13|c.2071G>A|p.Ala691Thr|2204/8607|2071/2601|691/866||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|11/13|c.2071G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|13/13|c.2071G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|12/13|c.2071G>A|||||| 22 17590261 . T G . . ANN=G|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|13/13|c.2152T>G|p.Phe718Val|2285/8607|2152/2601|718/866||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|11/13|c.2152T>G||||||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|13/13|c.2152T>G||||||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|12/13|c.2152T>G|||||| 22 17590269 . C T . . ANN=T|synonymous_variant|LOW|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|13/13|c.2160C>T|p.Pro720Pro|2293/8607|2160/2601|720/866||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|11/13|c.2160C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|13/13|c.2160C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|12/13|c.2160C>T|||||| 22 17590313 . C T . . ANN=T|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|13/13|c.2204C>T|p.Ala735Val|2337/8607|2204/2601|735/866||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|11/13|c.2204C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|13/13|c.2204C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|12/13|c.2204C>T|||||| 22 17590399 . G T . . ANN=T|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|13/13|c.2290G>T|p.Ala764Ser|2423/8607|2290/2601|764/866||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|11/13|c.2290G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|13/13|c.2290G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|12/13|c.2290G>T|||||| 22 17590404 . G A . . ANN=A|synonymous_variant|LOW|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|13/13|c.2295G>A|p.Gln765Gln|2428/8607|2295/2601|765/866||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|11/13|c.2295G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|13/13|c.2295G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|12/13|c.2295G>A|||||| 22 17590439 . A G . . ANN=G|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|13/13|c.2330A>G|p.Asp777Gly|2463/8607|2330/2601|777/866||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|11/13|c.2330A>G||||||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|13/13|c.2330A>G||||||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|12/13|c.2330A>G|||||| 22 17590490 . A C . . ANN=C|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|13/13|c.2381A>C|p.Gln794Pro|2514/8607|2381/2601|794/866||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|11/13|c.2381A>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|13/13|c.2381A>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|12/13|c.2381A>C|||||| 22 17590498 . A G . . ANN=G|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|13/13|c.2389A>G|p.Ile797Val|2522/8607|2389/2601|797/866||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|11/13|c.2389A>G||||||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|13/13|c.2389A>G||||||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|12/13|c.2389A>G|||||| 22 17590515 . G A . . ANN=A|synonymous_variant|LOW|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|13/13|c.2406G>A|p.Pro802Pro|2539/8607|2406/2601|802/866||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|11/13|c.2406G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|13/13|c.2406G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|12/13|c.2406G>A|||||| 22 17590541 . TGGAGGAAGA T . . ANN=|inframe_deletion|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|13/13|c.2446_2454delGAAGAGGAG|p.Glu816_Glu818del|2579/8607|2446/2601|816/866||INFO_REALIGN_3_PRIME,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|11/13|c.2433_2441delGGAGGAAGA||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|13/13|c.2433_2441delGGAGGAAGA||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|12/13|c.2433_2441delGGAGGAAGA||||||,|sequence_feature|LOW|IL17RA|ENSG00000177663|compositionally_biased_region:Poly-Glu|ENST00000319363|protein_coding|13/13|c.2433_2441delGGAGGAAGA|||||| 22 17590599 . C T . . ANN=T|synonymous_variant|LOW|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|13/13|c.2490C>T|p.Pro830Pro|2623/8607|2490/2601|830/866||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|11/13|c.2490C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|13/13|c.2490C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|12/13|c.2490C>T|||||| 22 17590744 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|13/13|c.*34T>C|||||34| 22 17600282 . C T . . ANN=T|stop_retained_variant|LOW|CECR6|ENSG00000183307|transcript|ENST00000331437|protein_coding|1/1|c.1736G>A|p.Ter579Ter|1862/4954|1736/1737|579/578||,T|stop_retained_variant|LOW|CECR6|ENSG00000183307|transcript|ENST00000399875|protein_coding|2/2|c.671G>A|p.Ter224Ter|868/3961|671/672|224/223||,T|upstream_gene_variant|MODIFIER|AC006946.15|ENSG00000235478|transcript|ENST00000441544|protein_coding||c.-335C>T|||||2203|,T|upstream_gene_variant|MODIFIER|AC006946.15|ENSG00000235478|transcript|ENST00000428078|nonsense_mediated_decay||n.-344C>T|||||2194|,T|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding||c.*2734C>T|||||3699| 22 17600293 . G A . . ANN=A|synonymous_variant|LOW|CECR6|ENSG00000183307|transcript|ENST00000331437|protein_coding|1/1|c.1725C>T|p.Ala575Ala|1851/4954|1725/1737|575/578||,A|synonymous_variant|LOW|CECR6|ENSG00000183307|transcript|ENST00000399875|protein_coding|2/2|c.660C>T|p.Ala220Ala|857/3961|660/672|220/223||,A|upstream_gene_variant|MODIFIER|AC006946.15|ENSG00000235478|transcript|ENST00000441544|protein_coding||c.-335G>A|||||2192|,A|upstream_gene_variant|MODIFIER|AC006946.15|ENSG00000235478|transcript|ENST00000428078|nonsense_mediated_decay||n.-344G>A|||||2183|,A|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding||c.*2734G>A|||||3710| 22 17600313 . C T . . ANN=T|missense_variant|MODERATE|CECR6|ENSG00000183307|transcript|ENST00000331437|protein_coding|1/1|c.1705G>A|p.Val569Ile|1831/4954|1705/1737|569/578||,T|missense_variant|MODERATE|CECR6|ENSG00000183307|transcript|ENST00000399875|protein_coding|2/2|c.640G>A|p.Val214Ile|837/3961|640/672|214/223||,T|upstream_gene_variant|MODIFIER|AC006946.15|ENSG00000235478|transcript|ENST00000441544|protein_coding||c.-335C>T|||||2172|,T|upstream_gene_variant|MODIFIER|AC006946.15|ENSG00000235478|transcript|ENST00000428078|nonsense_mediated_decay||n.-344C>T|||||2163|,T|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding||c.*2734C>T|||||3730| 22 17600393 . G A . . ANN=A|missense_variant|MODERATE|CECR6|ENSG00000183307|transcript|ENST00000331437|protein_coding|1/1|c.1625C>T|p.Pro542Leu|1751/4954|1625/1737|542/578||,A|missense_variant|MODERATE|CECR6|ENSG00000183307|transcript|ENST00000399875|protein_coding|2/2|c.560C>T|p.Pro187Leu|757/3961|560/672|187/223||,A|sequence_feature|LOW|CECR6|ENSG00000183307|compositionally_biased_region:Poly-Pro|ENST00000331437|protein_coding|1/1|c.1625C>T||||||,A|sequence_feature|LOW|CECR6|ENSG00000183307|compositionally_biased_region:Poly-Pro|ENST00000399875|protein_coding|2/2|c.560C>T||||||,A|upstream_gene_variant|MODIFIER|AC006946.15|ENSG00000235478|transcript|ENST00000441544|protein_coding||c.-335G>A|||||2092|,A|upstream_gene_variant|MODIFIER|AC006946.15|ENSG00000235478|transcript|ENST00000428078|nonsense_mediated_decay||n.-344G>A|||||2083|,A|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding||c.*2734G>A|||||3810| 22 17600448 . G A . . ANN=A|missense_variant|MODERATE|CECR6|ENSG00000183307|transcript|ENST00000331437|protein_coding|1/1|c.1570C>T|p.Arg524Trp|1696/4954|1570/1737|524/578||,A|missense_variant|MODERATE|CECR6|ENSG00000183307|transcript|ENST00000399875|protein_coding|2/2|c.505C>T|p.Arg169Trp|702/3961|505/672|169/223||,A|upstream_gene_variant|MODIFIER|AC006946.15|ENSG00000235478|transcript|ENST00000441544|protein_coding||c.-335G>A|||||2037|,A|upstream_gene_variant|MODIFIER|AC006946.15|ENSG00000235478|transcript|ENST00000428078|nonsense_mediated_decay||n.-344G>A|||||2028|,A|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding||c.*2734G>A|||||3865| 22 17600497 . G A . . ANN=A|synonymous_variant|LOW|CECR6|ENSG00000183307|transcript|ENST00000331437|protein_coding|1/1|c.1521C>T|p.Leu507Leu|1647/4954|1521/1737|507/578||,A|synonymous_variant|LOW|CECR6|ENSG00000183307|transcript|ENST00000399875|protein_coding|2/2|c.456C>T|p.Leu152Leu|653/3961|456/672|152/223||,A|upstream_gene_variant|MODIFIER|AC006946.15|ENSG00000235478|transcript|ENST00000441544|protein_coding||c.-335G>A|||||1988|,A|upstream_gene_variant|MODIFIER|AC006946.15|ENSG00000235478|transcript|ENST00000428078|nonsense_mediated_decay||n.-344G>A|||||1979|,A|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding||c.*2734G>A|||||3914| 22 17600672 . G A . . ANN=A|missense_variant|MODERATE|CECR6|ENSG00000183307|transcript|ENST00000331437|protein_coding|1/1|c.1346C>T|p.Ala449Val|1472/4954|1346/1737|449/578||,A|missense_variant|MODERATE|CECR6|ENSG00000183307|transcript|ENST00000399875|protein_coding|2/2|c.281C>T|p.Ala94Val|478/3961|281/672|94/223||,A|sequence_feature|LOW|CECR6|ENSG00000183307|compositionally_biased_region:Poly-Ala|ENST00000331437|protein_coding|1/1|c.1346C>T||||||,A|sequence_feature|LOW|CECR6|ENSG00000183307|compositionally_biased_region:Poly-Ala|ENST00000399875|protein_coding|2/2|c.281C>T||||||,A|upstream_gene_variant|MODIFIER|AC006946.15|ENSG00000235478|transcript|ENST00000441544|protein_coding||c.-335G>A|||||1813|,A|upstream_gene_variant|MODIFIER|AC006946.15|ENSG00000235478|transcript|ENST00000428078|nonsense_mediated_decay||n.-344G>A|||||1804|,A|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding||c.*2734G>A|||||4089| 22 17600689 . G A . . ANN=A|synonymous_variant|LOW|CECR6|ENSG00000183307|transcript|ENST00000331437|protein_coding|1/1|c.1329C>T|p.Leu443Leu|1455/4954|1329/1737|443/578||,A|synonymous_variant|LOW|CECR6|ENSG00000183307|transcript|ENST00000399875|protein_coding|2/2|c.264C>T|p.Leu88Leu|461/3961|264/672|88/223||,A|upstream_gene_variant|MODIFIER|AC006946.15|ENSG00000235478|transcript|ENST00000441544|protein_coding||c.-335G>A|||||1796|,A|upstream_gene_variant|MODIFIER|AC006946.15|ENSG00000235478|transcript|ENST00000428078|nonsense_mediated_decay||n.-344G>A|||||1787|,A|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding||c.*2734G>A|||||4106| 22 17600857 . G A . . ANN=A|synonymous_variant|LOW|CECR6|ENSG00000183307|transcript|ENST00000331437|protein_coding|1/1|c.1161C>T|p.Pro387Pro|1287/4954|1161/1737|387/578||,A|synonymous_variant|LOW|CECR6|ENSG00000183307|transcript|ENST00000399875|protein_coding|2/2|c.96C>T|p.Pro32Pro|293/3961|96/672|32/223||,A|upstream_gene_variant|MODIFIER|AC006946.15|ENSG00000235478|transcript|ENST00000441544|protein_coding||c.-335G>A|||||1628|,A|upstream_gene_variant|MODIFIER|AC006946.15|ENSG00000235478|transcript|ENST00000428078|nonsense_mediated_decay||n.-344G>A|||||1619|,A|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding||c.*2734G>A|||||4274| 22 17600890 . G A . . ANN=A|synonymous_variant|LOW|CECR6|ENSG00000183307|transcript|ENST00000331437|protein_coding|1/1|c.1128C>T|p.Pro376Pro|1254/4954|1128/1737|376/578||,A|synonymous_variant|LOW|CECR6|ENSG00000183307|transcript|ENST00000399875|protein_coding|2/2|c.63C>T|p.Pro21Pro|260/3961|63/672|21/223||,A|upstream_gene_variant|MODIFIER|AC006946.15|ENSG00000235478|transcript|ENST00000441544|protein_coding||c.-335G>A|||||1595|,A|upstream_gene_variant|MODIFIER|AC006946.15|ENSG00000235478|transcript|ENST00000428078|nonsense_mediated_decay||n.-344G>A|||||1586|,A|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding||c.*2734G>A|||||4307| 22 17600895 . C T . . ANN=T|missense_variant|MODERATE|CECR6|ENSG00000183307|transcript|ENST00000331437|protein_coding|1/1|c.1123G>A|p.Ala375Thr|1249/4954|1123/1737|375/578||,T|missense_variant|MODERATE|CECR6|ENSG00000183307|transcript|ENST00000399875|protein_coding|2/2|c.58G>A|p.Ala20Thr|255/3961|58/672|20/223||,T|upstream_gene_variant|MODIFIER|AC006946.15|ENSG00000235478|transcript|ENST00000441544|protein_coding||c.-335C>T|||||1590|,T|upstream_gene_variant|MODIFIER|AC006946.15|ENSG00000235478|transcript|ENST00000428078|nonsense_mediated_decay||n.-344C>T|||||1581|,T|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding||c.*2734C>T|||||4312| 22 17600977 . G A . . ANN=A|synonymous_variant|LOW|CECR6|ENSG00000183307|transcript|ENST00000331437|protein_coding|1/1|c.1041C>T|p.Phe347Phe|1167/4954|1041/1737|347/578||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|CECR6|ENSG00000183307|transcript|ENST00000399875|protein_coding|2/2|c.-25C>T||||||,A|5_prime_UTR_variant|MODIFIER|CECR6|ENSG00000183307|transcript|ENST00000399875|protein_coding|2/2|c.-25C>T|||||25|,A|upstream_gene_variant|MODIFIER|AC006946.15|ENSG00000235478|transcript|ENST00000441544|protein_coding||c.-335G>A|||||1508|,A|upstream_gene_variant|MODIFIER|AC006946.15|ENSG00000235478|transcript|ENST00000428078|nonsense_mediated_decay||n.-344G>A|||||1499|,A|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding||c.*2734G>A|||||4394| 22 17601199 . G A . . ANN=A|synonymous_variant|LOW|CECR6|ENSG00000183307|transcript|ENST00000331437|protein_coding|1/1|c.819C>T|p.Pro273Pro|945/4954|819/1737|273/578||,A|sequence_feature|LOW|CECR6|ENSG00000183307|compositionally_biased_region:Ala-rich|ENST00000331437|protein_coding|1/1|c.819C>T||||||,A|upstream_gene_variant|MODIFIER|AC006946.15|ENSG00000235478|transcript|ENST00000441544|protein_coding||c.-335G>A|||||1286|,A|upstream_gene_variant|MODIFIER|AC006946.15|ENSG00000235478|transcript|ENST00000428078|nonsense_mediated_decay||n.-344G>A|||||1277|,A|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding||c.*2734G>A|||||4616|,A|intron_variant|MODIFIER|CECR6|ENSG00000183307|transcript|ENST00000399875|protein_coding|1/1|c.-81-166C>T|||||| 22 17601271 . G A . . ANN=A|synonymous_variant|LOW|CECR6|ENSG00000183307|transcript|ENST00000331437|protein_coding|1/1|c.747C>T|p.Ser249Ser|873/4954|747/1737|249/578||,A|upstream_gene_variant|MODIFIER|AC006946.15|ENSG00000235478|transcript|ENST00000441544|protein_coding||c.-335G>A|||||1214|,A|upstream_gene_variant|MODIFIER|AC006946.15|ENSG00000235478|transcript|ENST00000428078|nonsense_mediated_decay||n.-344G>A|||||1205|,A|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding||c.*2734G>A|||||4688|,A|intron_variant|MODIFIER|CECR6|ENSG00000183307|transcript|ENST00000399875|protein_coding|1/1|c.-81-238C>T|||||| 22 17601299 . CCCA C . . ANN=|disruptive_inframe_deletion|MODERATE|CECR6|ENSG00000183307|transcript|ENST00000331437|protein_coding|1/1|c.716_718delTGG|p.Val239del|844/4954|716/1737|239/578||,|upstream_gene_variant|MODIFIER|AC006946.15|ENSG00000235478|transcript|ENST00000441544|protein_coding||c.-335_-335delCCA|||||1185|,|upstream_gene_variant|MODIFIER|AC006946.15|ENSG00000235478|transcript|ENST00000428078|nonsense_mediated_decay||n.-344_-344delCCA|||||1176|,|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding||c.*2734_*2734delCCA|||||4717|,|intron_variant|MODIFIER|CECR6|ENSG00000183307|transcript|ENST00000399875|protein_coding|1/1|c.-81-269_-81-267delTGG|||||| 22 17601438 . G T . . ANN=T|missense_variant|MODERATE|CECR6|ENSG00000183307|transcript|ENST00000331437|protein_coding|1/1|c.580C>A|p.Pro194Thr|706/4954|580/1737|194/578||,T|upstream_gene_variant|MODIFIER|AC006946.15|ENSG00000235478|transcript|ENST00000441544|protein_coding||c.-335G>T|||||1047|,T|upstream_gene_variant|MODIFIER|AC006946.15|ENSG00000235478|transcript|ENST00000428078|nonsense_mediated_decay||n.-344G>T|||||1038|,T|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding||c.*2734G>T|||||4855|,T|intron_variant|MODIFIER|CECR6|ENSG00000183307|transcript|ENST00000399875|protein_coding|1/1|c.-81-405C>A|||||| 22 17601466 . T C . . ANN=C|synonymous_variant|LOW|CECR6|ENSG00000183307|transcript|ENST00000331437|protein_coding|1/1|c.552A>G|p.Arg184Arg|678/4954|552/1737|184/578||,C|upstream_gene_variant|MODIFIER|AC006946.15|ENSG00000235478|transcript|ENST00000441544|protein_coding||c.-335T>C|||||1019|,C|upstream_gene_variant|MODIFIER|AC006946.15|ENSG00000235478|transcript|ENST00000428078|nonsense_mediated_decay||n.-344T>C|||||1010|,C|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding||c.*2734T>C|||||4883|,C|intron_variant|MODIFIER|CECR6|ENSG00000183307|transcript|ENST00000399875|protein_coding|1/1|c.-81-433A>G|||||| 22 17618882 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000336737|protein_coding|8/8|c.*29G>A|||||29|,T|3_prime_UTR_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000155674|protein_coding|8/8|c.*29G>A|||||29|,T|3_prime_UTR_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000399852|protein_coding|4/4|c.*29G>A|||||29|,T|non_coding_exon_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000477157|retained_intron|3/3|n.3144G>A||||||,T|non_coding_exon_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000486462|retained_intron|4/4|n.1181G>A|||||| 22 17618937 . G A . . ANN=A|missense_variant|MODERATE|CECR5|ENSG00000069998|transcript|ENST00000336737|protein_coding|8/8|c.1246C>T|p.Arg416Cys|1272/1799|1246/1272|416/423||,A|missense_variant|MODERATE|CECR5|ENSG00000069998|transcript|ENST00000155674|protein_coding|8/8|c.1156C>T|p.Arg386Cys|1199/1735|1156/1182|386/393||,A|missense_variant|MODERATE|CECR5|ENSG00000069998|transcript|ENST00000399852|protein_coding|4/4|c.646C>T|p.Arg216Cys|650/1118|646/672|216/223||,A|non_coding_exon_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000477157|retained_intron|3/3|n.3089C>T||||||,A|non_coding_exon_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000486462|retained_intron|4/4|n.1126C>T|||||| 22 17619076 . C G . . ANN=G|missense_variant|MODERATE|CECR5|ENSG00000069998|transcript|ENST00000336737|protein_coding|8/8|c.1107G>C|p.Arg369Ser|1133/1799|1107/1272|369/423||,G|missense_variant|MODERATE|CECR5|ENSG00000069998|transcript|ENST00000155674|protein_coding|8/8|c.1017G>C|p.Arg339Ser|1060/1735|1017/1182|339/393||,G|missense_variant|MODERATE|CECR5|ENSG00000069998|transcript|ENST00000399852|protein_coding|4/4|c.507G>C|p.Arg169Ser|511/1118|507/672|169/223||,G|non_coding_exon_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000477157|retained_intron|3/3|n.2950G>C||||||,G|non_coding_exon_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000486462|retained_intron|4/4|n.987G>C|||||| 22 17619130 . T C . . ANN=C|synonymous_variant|LOW|CECR5|ENSG00000069998|transcript|ENST00000336737|protein_coding|8/8|c.1053A>G|p.Ser351Ser|1079/1799|1053/1272|351/423||,C|synonymous_variant|LOW|CECR5|ENSG00000069998|transcript|ENST00000155674|protein_coding|8/8|c.963A>G|p.Ser321Ser|1006/1735|963/1182|321/393||,C|synonymous_variant|LOW|CECR5|ENSG00000069998|transcript|ENST00000399852|protein_coding|4/4|c.453A>G|p.Ser151Ser|457/1118|453/672|151/223||,C|non_coding_exon_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000477157|retained_intron|3/3|n.2896A>G||||||,C|non_coding_exon_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000486462|retained_intron|4/4|n.933A>G|||||| 22 17619281 . G A . . ANN=A|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000336737|protein_coding|7/7|c.936-34C>T||||||,A|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000155674|protein_coding|7/7|c.846-34C>T||||||,A|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000477157|retained_intron|2/2|n.2779-34C>T||||||,A|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000399852|protein_coding|3/3|c.336-34C>T||||||,A|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000486462|retained_intron|3/3|n.816-34C>T|||||| 22 17619282 . G A . . ANN=A|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000336737|protein_coding|7/7|c.936-35C>T||||||,A|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000155674|protein_coding|7/7|c.846-35C>T||||||,A|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000477157|retained_intron|2/2|n.2779-35C>T||||||,A|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000399852|protein_coding|3/3|c.336-35C>T||||||,A|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000486462|retained_intron|3/3|n.816-35C>T|||||| 22 17619292 . C T . . ANN=T|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000336737|protein_coding|7/7|c.936-45G>A||||||,T|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000155674|protein_coding|7/7|c.846-45G>A||||||,T|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000477157|retained_intron|2/2|n.2779-45G>A||||||,T|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000399852|protein_coding|3/3|c.336-45G>A||||||,T|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000486462|retained_intron|3/3|n.816-45G>A|||||| 22 17619393 . A G . . ANN=G|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000336737|protein_coding|7/7|c.935+47T>C||||||,G|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000155674|protein_coding|7/7|c.845+47T>C||||||,G|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000477157|retained_intron|2/2|n.2778+47T>C||||||,G|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000399852|protein_coding|3/3|c.336-146T>C||||||,G|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000486462|retained_intron|3/3|n.815+47T>C|||||| 22 17619407 . T C . . ANN=C|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000336737|protein_coding|7/7|c.935+33A>G||||||,C|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000155674|protein_coding|7/7|c.845+33A>G||||||,C|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000477157|retained_intron|2/2|n.2778+33A>G||||||,C|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000399852|protein_coding|3/3|c.336-160A>G||||||,C|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000486462|retained_intron|3/3|n.815+33A>G|||||| 22 17619428 . A G . . ANN=G|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000336737|protein_coding|7/7|c.935+12T>C||||||,G|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000155674|protein_coding|7/7|c.845+12T>C||||||,G|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000477157|retained_intron|2/2|n.2778+12T>C||||||,G|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000399852|protein_coding|3/3|c.336-181T>C||||||,G|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000486462|retained_intron|3/3|n.815+12T>C|||||| 22 17619661 . T G . . ANN=G|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000336737|protein_coding|6/7|c.747-33A>C||||||,G|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000155674|protein_coding|6/7|c.657-33A>C||||||,G|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000477157|retained_intron|1/2|n.2590-33A>C||||||,G|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000399852|protein_coding|3/3|c.336-414A>C||||||,G|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000486462|retained_intron|2/3|n.627-33A>C|||||| 22 17622001 . C T . . ANN=T|missense_variant|MODERATE|CECR5|ENSG00000069998|transcript|ENST00000336737|protein_coding|6/8|c.694G>A|p.Val232Ile|720/1799|694/1272|232/423||,T|missense_variant|MODERATE|CECR5|ENSG00000069998|transcript|ENST00000155674|protein_coding|6/8|c.604G>A|p.Val202Ile|647/1735|604/1182|202/393||,T|missense_variant|MODERATE|CECR5|ENSG00000069998|transcript|ENST00000399852|protein_coding|3/4|c.283G>A|p.Val95Ile|287/1118|283/672|95/223||,T|non_coding_exon_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000477157|retained_intron|1/3|n.2537G>A||||||,T|non_coding_exon_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000486462|retained_intron|2/4|n.574G>A|||||| 22 17622065 . A G . . ANN=G|synonymous_variant|LOW|CECR5|ENSG00000069998|transcript|ENST00000336737|protein_coding|6/8|c.630T>C|p.Asp210Asp|656/1799|630/1272|210/423||,G|synonymous_variant|LOW|CECR5|ENSG00000069998|transcript|ENST00000155674|protein_coding|6/8|c.540T>C|p.Asp180Asp|583/1735|540/1182|180/393||,G|synonymous_variant|LOW|CECR5|ENSG00000069998|transcript|ENST00000399852|protein_coding|3/4|c.219T>C|p.Asp73Asp|223/1118|219/672|73/223||,G|non_coding_exon_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000477157|retained_intron|1/3|n.2473T>C||||||,G|non_coding_exon_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000486462|retained_intron|2/4|n.510T>C|||||| 22 17622089 . C A . . ANN=A|missense_variant|MODERATE|CECR5|ENSG00000069998|transcript|ENST00000336737|protein_coding|6/8|c.606G>T|p.Glu202Asp|632/1799|606/1272|202/423||,A|missense_variant|MODERATE|CECR5|ENSG00000069998|transcript|ENST00000155674|protein_coding|6/8|c.516G>T|p.Glu172Asp|559/1735|516/1182|172/393||,A|missense_variant|MODERATE|CECR5|ENSG00000069998|transcript|ENST00000399852|protein_coding|3/4|c.195G>T|p.Glu65Asp|199/1118|195/672|65/223||,A|non_coding_exon_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000477157|retained_intron|1/3|n.2449G>T||||||,A|non_coding_exon_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000486462|retained_intron|2/4|n.486G>T|||||| 22 17622140 . C T . . ANN=T|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000336737|protein_coding|5/7|c.572-17G>A||||||,T|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000155674|protein_coding|5/7|c.482-17G>A||||||,T|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000399852|protein_coding|2/3|c.161-17G>A||||||,T|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000486462|retained_intron|1/3|n.452-17G>A||||||,T|non_coding_exon_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000477157|retained_intron|1/3|n.2398G>A|||||| 22 17622171 . C T . . ANN=T|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000336737|protein_coding|5/7|c.572-48G>A||||||,T|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000155674|protein_coding|5/7|c.482-48G>A||||||,T|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000399852|protein_coding|2/3|c.161-48G>A||||||,T|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000486462|retained_intron|1/3|n.452-48G>A||||||,T|non_coding_exon_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000477157|retained_intron|1/3|n.2367G>A|||||| 22 17623945 . C T . . ANN=T|upstream_gene_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000486462|retained_intron||n.-1G>A|||||1212|,T|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000336737|protein_coding|5/7|c.571+43G>A||||||,T|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000155674|protein_coding|5/7|c.481+43G>A||||||,T|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000399852|protein_coding|2/3|c.160+43G>A||||||,T|non_coding_exon_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000477157|retained_intron|1/3|n.593G>A|||||| 22 17624013 . C T . . ANN=T|synonymous_variant|LOW|CECR5|ENSG00000069998|transcript|ENST00000336737|protein_coding|5/8|c.546G>A|p.Pro182Pro|572/1799|546/1272|182/423||,T|synonymous_variant|LOW|CECR5|ENSG00000069998|transcript|ENST00000155674|protein_coding|5/8|c.456G>A|p.Pro152Pro|499/1735|456/1182|152/393||,T|synonymous_variant|LOW|CECR5|ENSG00000069998|transcript|ENST00000399852|protein_coding|2/4|c.135G>A|p.Pro45Pro|139/1118|135/672|45/223||,T|upstream_gene_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000486462|retained_intron||n.-1G>A|||||1280|,T|non_coding_exon_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000477157|retained_intron|1/3|n.525G>A|||||| 22 17624041 . A G . . ANN=G|upstream_gene_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000486462|retained_intron||n.-1T>C|||||1308|,G|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000336737|protein_coding|4/7|c.538-20T>C||||||,G|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000155674|protein_coding|4/7|c.448-20T>C||||||,G|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000399852|protein_coding|1/3|c.127-20T>C||||||,G|non_coding_exon_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000477157|retained_intron|1/3|n.497T>C|||||| 22 17624063 . T G . . ANN=G|upstream_gene_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000486462|retained_intron||n.-1A>C|||||1330|,G|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000336737|protein_coding|4/7|c.538-42A>C||||||,G|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000155674|protein_coding|4/7|c.448-42A>C||||||,G|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000399852|protein_coding|1/3|c.127-42A>C||||||,G|non_coding_exon_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000477157|retained_intron|1/3|n.475A>C|||||| 22 17625915 . G A . . ANN=A|missense_variant&splice_region_variant|MODERATE|CECR5|ENSG00000069998|transcript|ENST00000336737|protein_coding|4/8|c.536C>T|p.Thr179Met|562/1799|536/1272|179/423||,A|missense_variant&splice_region_variant|MODERATE|CECR5|ENSG00000069998|transcript|ENST00000155674|protein_coding|4/8|c.446C>T|p.Thr149Met|489/1735|446/1182|149/393||,A|upstream_gene_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000477157|retained_intron||n.-1C>T|||||1378|,A|upstream_gene_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000486462|retained_intron||n.-1C>T|||||3182|,A|downstream_gene_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000463033|processed_transcript||n.*643C>T|||||3423|,A|downstream_gene_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000480451|processed_transcript||n.*1028C>T|||||3424|,A|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000399852|protein_coding|1/3|c.127-1894C>T|||||| 22 17625970 . G A . . ANN=A|missense_variant|MODERATE|CECR5|ENSG00000069998|transcript|ENST00000336737|protein_coding|4/8|c.481C>T|p.Arg161Trp|507/1799|481/1272|161/423||,A|missense_variant|MODERATE|CECR5|ENSG00000069998|transcript|ENST00000155674|protein_coding|4/8|c.391C>T|p.Arg131Trp|434/1735|391/1182|131/393||,A|upstream_gene_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000477157|retained_intron||n.-1C>T|||||1433|,A|upstream_gene_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000486462|retained_intron||n.-1C>T|||||3237|,A|downstream_gene_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000463033|processed_transcript||n.*643C>T|||||3368|,A|downstream_gene_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000480451|processed_transcript||n.*1028C>T|||||3369|,A|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000399852|protein_coding|1/3|c.127-1949C>T|||||| 22 17629300 . C A . . ANN=A|upstream_gene_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000477157|retained_intron||n.-1G>T|||||4763|,A|downstream_gene_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000463033|processed_transcript||n.*643G>T|||||38|,A|downstream_gene_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000480451|processed_transcript||n.*1028G>T|||||39|,A|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000336737|protein_coding|3/7|c.443+38G>T||||||,A|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000155674|protein_coding|3/7|c.353+38G>T||||||,A|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000399852|protein_coding|1/3|c.127-5279G>T|||||| 22 17629319 . G A . . ANN=A|upstream_gene_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000477157|retained_intron||n.-1C>T|||||4782|,A|downstream_gene_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000463033|processed_transcript||n.*643C>T|||||19|,A|downstream_gene_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000480451|processed_transcript||n.*1028C>T|||||20|,A|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000336737|protein_coding|3/7|c.443+19C>T||||||,A|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000155674|protein_coding|3/7|c.353+19C>T||||||,A|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000399852|protein_coding|1/3|c.127-5298C>T|||||| 22 17629357 . C G . . ANN=G|missense_variant|MODERATE|CECR5|ENSG00000069998|transcript|ENST00000336737|protein_coding|3/8|c.424G>C|p.Val142Leu|450/1799|424/1272|142/423||,G|missense_variant|MODERATE|CECR5|ENSG00000069998|transcript|ENST00000155674|protein_coding|3/8|c.334G>C|p.Val112Leu|377/1735|334/1182|112/393||,G|upstream_gene_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000477157|retained_intron||n.-1G>C|||||4820|,G|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000399852|protein_coding|1/3|c.127-5336G>C||||||,G|non_coding_exon_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000463033|processed_transcript|2/2|n.624G>C||||||,G|non_coding_exon_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000480451|processed_transcript|3/3|n.1010G>C|||||| 22 17629383 . C T . . ANN=T|missense_variant|MODERATE|CECR5|ENSG00000069998|transcript|ENST00000336737|protein_coding|3/8|c.398G>A|p.Arg133Gln|424/1799|398/1272|133/423||,T|missense_variant|MODERATE|CECR5|ENSG00000069998|transcript|ENST00000155674|protein_coding|3/8|c.308G>A|p.Arg103Gln|351/1735|308/1182|103/393||,T|upstream_gene_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000477157|retained_intron||n.-1G>A|||||4846|,T|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000399852|protein_coding|1/3|c.127-5362G>A||||||,T|non_coding_exon_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000463033|processed_transcript|2/2|n.598G>A||||||,T|non_coding_exon_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000480451|processed_transcript|3/3|n.984G>A|||||| 22 17630389 . G C . . ANN=C|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000336737|protein_coding|2/7|c.330+43C>G||||||,C|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000155674|protein_coding|2/7|c.240+43C>G||||||,C|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000399852|protein_coding|1/3|c.127-6368C>G||||||,C|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000463033|processed_transcript|1/1|n.531-939C>G||||||,C|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000480451|processed_transcript|2/2|n.916+43C>G|||||| 22 17630393 . C T . . ANN=T|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000336737|protein_coding|2/7|c.330+39G>A||||||,T|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000155674|protein_coding|2/7|c.240+39G>A||||||,T|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000399852|protein_coding|1/3|c.127-6372G>A||||||,T|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000463033|processed_transcript|1/1|n.531-943G>A||||||,T|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000480451|processed_transcript|2/2|n.916+39G>A|||||| 22 17630401 . T C . . ANN=C|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000336737|protein_coding|2/7|c.330+31A>G||||||,C|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000155674|protein_coding|2/7|c.240+31A>G||||||,C|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000399852|protein_coding|1/3|c.127-6380A>G||||||,C|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000463033|processed_transcript|1/1|n.531-951A>G||||||,C|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000480451|processed_transcript|2/2|n.916+31A>G|||||| 22 17630486 . C A . . ANN=A|synonymous_variant|LOW|CECR5|ENSG00000069998|transcript|ENST00000336737|protein_coding|2/8|c.276G>T|p.Gly92Gly|302/1799|276/1272|92/423||,A|synonymous_variant|LOW|CECR5|ENSG00000069998|transcript|ENST00000155674|protein_coding|2/8|c.186G>T|p.Gly62Gly|229/1735|186/1182|62/393||,A|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000399852|protein_coding|1/3|c.127-6465G>T||||||,A|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000463033|processed_transcript|1/1|n.531-1036G>T||||||,A|non_coding_exon_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000480451|processed_transcript|2/3|n.862G>T|||||| 22 17630540 . C T . . ANN=T|synonymous_variant|LOW|CECR5|ENSG00000069998|transcript|ENST00000336737|protein_coding|2/8|c.222G>A|p.Leu74Leu|248/1799|222/1272|74/423||,T|synonymous_variant|LOW|CECR5|ENSG00000069998|transcript|ENST00000155674|protein_coding|2/8|c.132G>A|p.Leu44Leu|175/1735|132/1182|44/393||,T|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000399852|protein_coding|1/3|c.127-6519G>A||||||,T|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000463033|processed_transcript|1/1|n.531-1090G>A||||||,T|non_coding_exon_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000480451|processed_transcript|2/3|n.808G>A|||||| 22 17630647 . G A . . ANN=A|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000336737|protein_coding|1/7|c.127-12C>T||||||,A|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000155674|protein_coding|1/7|c.37-12C>T||||||,A|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000399852|protein_coding|1/3|c.127-6626C>T||||||,A|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000463033|processed_transcript|1/1|n.531-1197C>T||||||,A|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000480451|processed_transcript|1/2|n.713-12C>T|||||| 22 17630667 . T C . . ANN=C|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000336737|protein_coding|1/7|c.127-32A>G||||||,C|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000155674|protein_coding|1/7|c.37-32A>G||||||,C|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000399852|protein_coding|1/3|c.127-6646A>G||||||,C|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000463033|processed_transcript|1/1|n.531-1217A>G||||||,C|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000480451|processed_transcript|1/2|n.713-32A>G|||||| 22 17640045 . G A . . ANN=A|missense_variant|MODERATE|CECR5|ENSG00000069998|transcript|ENST00000336737|protein_coding|1/8|c.97C>T|p.Arg33Cys|123/1799|97/1272|33/423||,A|missense_variant|MODERATE|CECR5|ENSG00000069998|transcript|ENST00000399852|protein_coding|1/4|c.97C>T|p.Arg33Cys|101/1118|97/672|33/223||,A|upstream_gene_variant|MODIFIER|CECR5-AS1|ENSG00000185837|transcript|ENST00000431923|antisense||n.-1G>A|||||244|,A|upstream_gene_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000463033|processed_transcript||n.-1C>T|||||169|,A|upstream_gene_variant|MODIFIER|CECR5-AS1|ENSG00000185837|transcript|ENST00000329743|antisense||n.-1G>A|||||229|,A|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000155674|protein_coding|1/7|c.36+6054C>T||||||,A|non_coding_exon_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000480451|processed_transcript|1/3|n.14C>T|||||| 22 17640189 . G C . . ANN=C|upstream_gene_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000336737|protein_coding||c.-27C>G|||||22|,C|upstream_gene_variant|MODIFIER|CECR5-AS1|ENSG00000185837|transcript|ENST00000431923|antisense||n.-1G>C|||||100|,C|upstream_gene_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000399852|protein_coding||c.-5C>G|||||44|,C|upstream_gene_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000463033|processed_transcript||n.-1C>G|||||313|,C|upstream_gene_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000480451|processed_transcript||n.-1C>G|||||131|,C|upstream_gene_variant|MODIFIER|CECR5-AS1|ENSG00000185837|transcript|ENST00000329743|antisense||n.-1G>C|||||85|,C|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000155674|protein_coding|1/7|c.36+5910C>G|||||| 22 17646132 . C A . . ANN=A|start_lost|HIGH|CECR5|ENSG00000069998|transcript|ENST00000155674|protein_coding|1/8|c.3G>T|p.Met1?|46/1735|3/1182|1/393||,A|intron_variant|MODIFIER|CECR5-AS1|ENSG00000185837|transcript|ENST00000431923|antisense|1/1|n.440-27C>A||||||,A|intron_variant|MODIFIER|CECR5-AS1|ENSG00000185837|transcript|ENST00000329743|antisense|1/1|n.169-27C>A||||||;LOF=(CECR5|ENSG00000069998|7|0.14) 22 17662444 . C G . . ANN=G|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|9/9|c.1465G>C|p.Glu489Gln|1677/3925|1465/1536|489/511||,G|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000399839|protein_coding|10/10|c.1465G>C|p.Glu489Gln|1736/3986|1465/1536|489/511||,G|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000330232|protein_coding|7/7|c.742G>C|p.Glu248Gln|947/3195|742/813|248/270||,G|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000449907|protein_coding|10/10|c.1339G>C|p.Glu447Gln|1508/2072|1339/1410|447/469||,G|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|10/10|c.1465G>C|p.Glu489Gln|1532/1603|1465/1536|489/511||,G|sequence_feature|LOW|CECR1|ENSG00000093072|helix|ENST00000330232|protein_coding|7/7|c.742G>C||||||,G|sequence_feature|LOW|CECR1|ENSG00000093072|helix|ENST00000399837|protein_coding|10/10|c.1465G>C||||||,G|downstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000469063|processed_transcript||n.*510G>C|||||1087| 22 17662679 . C T . . ANN=T|sequence_feature|LOW|CECR1|ENSG00000093072|helix|ENST00000330232|protein_coding|7/7|c.719+31G>A||||||,T|sequence_feature|LOW|CECR1|ENSG00000093072|helix|ENST00000330232|protein_coding|6/7|c.719+31G>A||||||,T|sequence_feature|LOW|CECR1|ENSG00000093072|helix|ENST00000399837|protein_coding|10/10|c.1442+31G>A||||||,T|sequence_feature|LOW|CECR1|ENSG00000093072|helix|ENST00000399837|protein_coding|9/10|c.1442+31G>A||||||,T|downstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000469063|processed_transcript||n.*510G>A|||||852|,T|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|8/8|c.1442+31G>A||||||,T|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000399839|protein_coding|9/9|c.1442+31G>A||||||,T|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000330232|protein_coding|6/6|c.719+31G>A||||||,T|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000449907|protein_coding|9/9|c.1316+31G>A||||||,T|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|9/9|c.1442+31G>A|||||| 22 17662699 . A G . . ANN=G|sequence_feature|LOW|CECR1|ENSG00000093072|helix|ENST00000330232|protein_coding|7/7|c.719+11T>C||||||,G|sequence_feature|LOW|CECR1|ENSG00000093072|helix|ENST00000330232|protein_coding|6/7|c.719+11T>C||||||,G|sequence_feature|LOW|CECR1|ENSG00000093072|helix|ENST00000399837|protein_coding|10/10|c.1442+11T>C||||||,G|sequence_feature|LOW|CECR1|ENSG00000093072|helix|ENST00000399837|protein_coding|9/10|c.1442+11T>C||||||,G|downstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000469063|processed_transcript||n.*510T>C|||||832|,G|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|8/8|c.1442+11T>C||||||,G|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000399839|protein_coding|9/9|c.1442+11T>C||||||,G|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000330232|protein_coding|6/6|c.719+11T>C||||||,G|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000449907|protein_coding|9/9|c.1316+11T>C||||||,G|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|9/9|c.1442+11T>C|||||| 22 17662767 . A G . . ANN=G|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|8/9|c.1385T>C|p.Ile462Thr|1597/3925|1385/1536|462/511||,G|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000399839|protein_coding|9/10|c.1385T>C|p.Ile462Thr|1656/3986|1385/1536|462/511||,G|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000330232|protein_coding|6/7|c.662T>C|p.Ile221Thr|867/3195|662/813|221/270||,G|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000449907|protein_coding|9/10|c.1259T>C|p.Ile420Thr|1428/2072|1259/1410|420/469||,G|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|9/10|c.1385T>C|p.Ile462Thr|1452/1603|1385/1536|462/511||,G|downstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000469063|processed_transcript||n.*510T>C|||||764| 22 17662793 . A G . . ANN=G|synonymous_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|8/9|c.1359T>C|p.Tyr453Tyr|1571/3925|1359/1536|453/511||,G|synonymous_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000399839|protein_coding|9/10|c.1359T>C|p.Tyr453Tyr|1630/3986|1359/1536|453/511||,G|synonymous_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000330232|protein_coding|6/7|c.636T>C|p.Tyr212Tyr|841/3195|636/813|212/270||,G|synonymous_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000449907|protein_coding|9/10|c.1233T>C|p.Tyr411Tyr|1402/2072|1233/1410|411/469||,G|synonymous_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|9/10|c.1359T>C|p.Tyr453Tyr|1426/1603|1359/1536|453/511||,G|sequence_feature|LOW|CECR1|ENSG00000093072|helix|ENST00000330232|protein_coding|6/7|c.636T>C||||||,G|sequence_feature|LOW|CECR1|ENSG00000093072|helix|ENST00000399837|protein_coding|9/10|c.1359T>C||||||,G|downstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000469063|processed_transcript||n.*510T>C|||||738| 22 17662917 . G C . . ANN=C|splice_region_variant&intron_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|7/8|c.1240-5C>G||||||,C|splice_region_variant&intron_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000399839|protein_coding|8/9|c.1240-5C>G||||||,C|splice_region_variant&intron_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000330232|protein_coding|5/6|c.517-5C>G||||||,C|splice_region_variant&intron_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000449907|protein_coding|8/9|c.1114-5C>G||||||,C|splice_region_variant&intron_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|8/9|c.1240-5C>G||||||,C|sequence_feature|LOW|CECR1|ENSG00000093072|helix|ENST00000330232|protein_coding|5/7|c.517-5C>G||||||,C|sequence_feature|LOW|CECR1|ENSG00000093072|helix|ENST00000330232|protein_coding|6/7|c.517-5C>G||||||,C|sequence_feature|LOW|CECR1|ENSG00000093072|helix|ENST00000399837|protein_coding|8/10|c.1240-5C>G||||||,C|sequence_feature|LOW|CECR1|ENSG00000093072|helix|ENST00000399837|protein_coding|9/10|c.1240-5C>G||||||,C|downstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000469063|processed_transcript||n.*510C>G|||||614| 22 17663445 . T C . . ANN=C|sequence_feature|LOW|CECR1|ENSG00000093072|helix|ENST00000330232|protein_coding|5/7|c.516+49A>G||||||,C|sequence_feature|LOW|CECR1|ENSG00000093072|helix|ENST00000330232|protein_coding|6/7|c.516+49A>G||||||,C|sequence_feature|LOW|CECR1|ENSG00000093072|helix|ENST00000399837|protein_coding|8/10|c.1239+49A>G||||||,C|sequence_feature|LOW|CECR1|ENSG00000093072|helix|ENST00000399837|protein_coding|9/10|c.1239+49A>G||||||,C|downstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000469063|processed_transcript||n.*510A>G|||||86|,C|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|7/8|c.1239+49A>G||||||,C|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000399839|protein_coding|8/9|c.1239+49A>G||||||,C|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000330232|protein_coding|5/6|c.516+49A>G||||||,C|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000449907|protein_coding|8/9|c.1113+49A>G||||||,C|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|8/9|c.1239+49A>G|||||| 22 17663666 . ATGGTCTTCCATGGGGGATGGATGGGTC A . . ANN=|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|6/8|c.1082-42_1082-16delGACCCATCCATCCCCCATGGAAGACCA||||||,|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000399839|protein_coding|7/9|c.1082-42_1082-16delGACCCATCCATCCCCCATGGAAGACCA||||||,|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000330232|protein_coding|4/6|c.359-42_359-16delGACCCATCCATCCCCCATGGAAGACCA||||||,|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000449907|protein_coding|7/9|c.956-42_956-16delGACCCATCCATCCCCCATGGAAGACCA||||||,|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|7/9|c.1082-42_1082-16delGACCCATCCATCCCCCATGGAAGACCA||||||,|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000469063|processed_transcript|1/1|n.390-42_390-16delGACCCATCCATCCCCCATGGAAGACCA|||||| 22 17669199 . G A . . ANN=A|upstream_gene_variant|MODIFIER|AC005300.5|ENSG00000236325|transcript|ENST00000428401|processed_pseudogene||n.-1G>A|||||4627|,A|downstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000480276|processed_transcript||n.*570C>T|||||1475|,A|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|6/8|c.1081+30C>T||||||,A|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000399839|protein_coding|7/9|c.1081+30C>T||||||,A|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000330232|protein_coding|4/6|c.358+30C>T||||||,A|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000449907|protein_coding|7/9|c.955+30C>T||||||,A|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|7/9|c.1081+30C>T||||||,A|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000469063|processed_transcript|1/1|n.389+30C>T|||||| 22 17669211 . C T . . ANN=T|upstream_gene_variant|MODIFIER|AC005300.5|ENSG00000236325|transcript|ENST00000428401|processed_pseudogene||n.-1C>T|||||4615|,T|downstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000480276|processed_transcript||n.*570G>A|||||1463|,T|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|6/8|c.1081+18G>A||||||,T|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000399839|protein_coding|7/9|c.1081+18G>A||||||,T|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000330232|protein_coding|4/6|c.358+18G>A||||||,T|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000449907|protein_coding|7/9|c.955+18G>A||||||,T|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|7/9|c.1081+18G>A||||||,T|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000469063|processed_transcript|1/1|n.389+18G>A|||||| 22 17669238 . C T . . ANN=T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|6/9|c.1072G>A|p.Gly358Arg|1284/3925|1072/1536|358/511||,T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000399839|protein_coding|7/10|c.1072G>A|p.Gly358Arg|1343/3986|1072/1536|358/511||,T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000330232|protein_coding|4/7|c.349G>A|p.Gly117Arg|554/3195|349/813|117/270||,T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000449907|protein_coding|7/10|c.946G>A|p.Gly316Arg|1115/2072|946/1410|316/469||,T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|7/10|c.1072G>A|p.Gly358Arg|1139/1603|1072/1536|358/511||,T|upstream_gene_variant|MODIFIER|AC005300.5|ENSG00000236325|transcript|ENST00000428401|processed_pseudogene||n.-1C>T|||||4588|,T|downstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000480276|processed_transcript||n.*570G>A|||||1436|,T|non_coding_exon_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000469063|processed_transcript|1/2|n.380G>A|||||| 22 17669242 . G A . . ANN=A|synonymous_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|6/9|c.1068C>T|p.His356His|1280/3925|1068/1536|356/511||,A|synonymous_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000399839|protein_coding|7/10|c.1068C>T|p.His356His|1339/3986|1068/1536|356/511||,A|synonymous_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000330232|protein_coding|4/7|c.345C>T|p.His115His|550/3195|345/813|115/270||,A|synonymous_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000449907|protein_coding|7/10|c.942C>T|p.His314His|1111/2072|942/1410|314/469||,A|synonymous_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|7/10|c.1068C>T|p.His356His|1135/1603|1068/1536|356/511||,A|sequence_feature|LOW|CECR1|ENSG00000093072|metal_ion-binding_site:Zinc|ENST00000330232|protein_coding|4/7|c.345C>T||||||,A|sequence_feature|LOW|CECR1|ENSG00000093072|metal_ion-binding_site:Zinc|ENST00000399837|protein_coding|7/10|c.1068C>T||||||,A|upstream_gene_variant|MODIFIER|AC005300.5|ENSG00000236325|transcript|ENST00000428401|processed_pseudogene||n.-1G>A|||||4584|,A|downstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000480276|processed_transcript||n.*570C>T|||||1432|,A|non_coding_exon_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000469063|processed_transcript|1/2|n.376C>T|||||| 22 17669245 . G T . . ANN=T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|6/9|c.1065C>A|p.Phe355Leu|1277/3925|1065/1536|355/511||,T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000399839|protein_coding|7/10|c.1065C>A|p.Phe355Leu|1336/3986|1065/1536|355/511||,T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000330232|protein_coding|4/7|c.342C>A|p.Phe114Leu|547/3195|342/813|114/270||,T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000449907|protein_coding|7/10|c.939C>A|p.Phe313Leu|1108/2072|939/1410|313/469||,T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|7/10|c.1065C>A|p.Phe355Leu|1132/1603|1065/1536|355/511||,T|upstream_gene_variant|MODIFIER|AC005300.5|ENSG00000236325|transcript|ENST00000428401|processed_pseudogene||n.-1G>T|||||4581|,T|downstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000480276|processed_transcript||n.*570C>A|||||1429|,T|non_coding_exon_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000469063|processed_transcript|1/2|n.373C>A|||||| 22 17669265 . C T . . ANN=T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|6/9|c.1045G>A|p.Val349Ile|1257/3925|1045/1536|349/511||,T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000399839|protein_coding|7/10|c.1045G>A|p.Val349Ile|1316/3986|1045/1536|349/511||,T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000330232|protein_coding|4/7|c.322G>A|p.Val108Ile|527/3195|322/813|108/270||,T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000449907|protein_coding|7/10|c.919G>A|p.Val307Ile|1088/2072|919/1410|307/469||,T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|7/10|c.1045G>A|p.Val349Ile|1112/1603|1045/1536|349/511||,T|upstream_gene_variant|MODIFIER|AC005300.5|ENSG00000236325|transcript|ENST00000428401|processed_pseudogene||n.-1C>T|||||4561|,T|downstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000480276|processed_transcript||n.*570G>A|||||1409|,T|non_coding_exon_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000469063|processed_transcript|1/2|n.353G>A|||||| 22 17669306 . T C . . ANN=C|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|6/9|c.1004A>G|p.His335Arg|1216/3925|1004/1536|335/511||,C|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000399839|protein_coding|7/10|c.1004A>G|p.His335Arg|1275/3986|1004/1536|335/511||,C|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000330232|protein_coding|4/7|c.281A>G|p.His94Arg|486/3195|281/813|94/270||,C|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000449907|protein_coding|7/10|c.878A>G|p.His293Arg|1047/2072|878/1410|293/469||,C|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|7/10|c.1004A>G|p.His335Arg|1071/1603|1004/1536|335/511||,C|sequence_feature|LOW|CECR1|ENSG00000093072|helix|ENST00000330232|protein_coding|4/7|c.281A>G||||||,C|sequence_feature|LOW|CECR1|ENSG00000093072|helix|ENST00000399837|protein_coding|7/10|c.1004A>G||||||,C|upstream_gene_variant|MODIFIER|AC005300.5|ENSG00000236325|transcript|ENST00000428401|processed_pseudogene||n.-1T>C|||||4520|,C|downstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000480276|processed_transcript||n.*570A>G|||||1368|,C|non_coding_exon_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000469063|processed_transcript|1/2|n.312A>G|||||| 22 17669335 . C T . . ANN=T|splice_region_variant&synonymous_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|6/9|c.975G>A|p.Val325Val|1187/3925|975/1536|325/511||,T|splice_region_variant&synonymous_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000399839|protein_coding|7/10|c.975G>A|p.Val325Val|1246/3986|975/1536|325/511||,T|splice_region_variant&synonymous_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000330232|protein_coding|4/7|c.252G>A|p.Val84Val|457/3195|252/813|84/270||,T|splice_region_variant&synonymous_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000449907|protein_coding|7/10|c.849G>A|p.Val283Val|1018/2072|849/1410|283/469||,T|splice_region_variant&synonymous_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|7/10|c.975G>A|p.Val325Val|1042/1603|975/1536|325/511||,T|sequence_feature|LOW|CECR1|ENSG00000093072|beta_strand|ENST00000330232|protein_coding|4/7|c.252G>A||||||,T|sequence_feature|LOW|CECR1|ENSG00000093072|beta_strand|ENST00000330232|protein_coding|3/7|c.252G>A||||||,T|sequence_feature|LOW|CECR1|ENSG00000093072|beta_strand|ENST00000399837|protein_coding|7/10|c.975G>A||||||,T|sequence_feature|LOW|CECR1|ENSG00000093072|beta_strand|ENST00000399837|protein_coding|6/10|c.975G>A||||||,T|upstream_gene_variant|MODIFIER|AC005300.5|ENSG00000236325|transcript|ENST00000428401|processed_pseudogene||n.-1C>T|||||4491|,T|downstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000480276|processed_transcript||n.*570G>A|||||1339|,T|non_coding_exon_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000469063|processed_transcript|1/2|n.283G>A|||||| 22 17669375 . C T . . ANN=T|sequence_feature|LOW|CECR1|ENSG00000093072|beta_strand|ENST00000330232|protein_coding|4/7|c.250-38G>A||||||,T|sequence_feature|LOW|CECR1|ENSG00000093072|beta_strand|ENST00000330232|protein_coding|3/7|c.250-38G>A||||||,T|sequence_feature|LOW|CECR1|ENSG00000093072|beta_strand|ENST00000399837|protein_coding|7/10|c.973-38G>A||||||,T|sequence_feature|LOW|CECR1|ENSG00000093072|beta_strand|ENST00000399837|protein_coding|6/10|c.973-38G>A||||||,T|upstream_gene_variant|MODIFIER|AC005300.5|ENSG00000236325|transcript|ENST00000428401|processed_pseudogene||n.-1C>T|||||4451|,T|downstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000480276|processed_transcript||n.*570G>A|||||1299|,T|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|5/8|c.973-38G>A||||||,T|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000399839|protein_coding|6/9|c.973-38G>A||||||,T|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000330232|protein_coding|3/6|c.250-38G>A||||||,T|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000449907|protein_coding|6/9|c.847-38G>A||||||,T|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|6/9|c.973-38G>A||||||,T|non_coding_exon_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000469063|processed_transcript|1/2|n.243G>A|||||| 22 17670786 . G A . . ANN=A|sequence_feature|LOW|CECR1|ENSG00000093072|beta_strand|ENST00000330232|protein_coding|4/7|c.249+46C>T||||||,A|sequence_feature|LOW|CECR1|ENSG00000093072|beta_strand|ENST00000330232|protein_coding|3/7|c.249+46C>T||||||,A|sequence_feature|LOW|CECR1|ENSG00000093072|beta_strand|ENST00000399837|protein_coding|7/10|c.972+46C>T||||||,A|sequence_feature|LOW|CECR1|ENSG00000093072|beta_strand|ENST00000399837|protein_coding|6/10|c.972+46C>T||||||,A|upstream_gene_variant|MODIFIER|AC005300.5|ENSG00000236325|transcript|ENST00000428401|processed_pseudogene||n.-1G>A|||||3040|,A|upstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000469063|processed_transcript||n.-1C>T|||||1169|,A|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|5/8|c.972+46C>T||||||,A|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000399839|protein_coding|6/9|c.972+46C>T||||||,A|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000330232|protein_coding|3/6|c.249+46C>T||||||,A|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000449907|protein_coding|6/9|c.846+46C>T||||||,A|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|6/9|c.972+46C>T||||||,A|non_coding_exon_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000480276|processed_transcript|3/3|n.458C>T|||||| 22 17670794 . C T . . ANN=T|sequence_feature|LOW|CECR1|ENSG00000093072|beta_strand|ENST00000330232|protein_coding|4/7|c.249+38G>A||||||,T|sequence_feature|LOW|CECR1|ENSG00000093072|beta_strand|ENST00000330232|protein_coding|3/7|c.249+38G>A||||||,T|sequence_feature|LOW|CECR1|ENSG00000093072|beta_strand|ENST00000399837|protein_coding|7/10|c.972+38G>A||||||,T|sequence_feature|LOW|CECR1|ENSG00000093072|beta_strand|ENST00000399837|protein_coding|6/10|c.972+38G>A||||||,T|upstream_gene_variant|MODIFIER|AC005300.5|ENSG00000236325|transcript|ENST00000428401|processed_pseudogene||n.-1C>T|||||3032|,T|upstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000469063|processed_transcript||n.-1G>A|||||1177|,T|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|5/8|c.972+38G>A||||||,T|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000399839|protein_coding|6/9|c.972+38G>A||||||,T|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000330232|protein_coding|3/6|c.249+38G>A||||||,T|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000449907|protein_coding|6/9|c.846+38G>A||||||,T|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|6/9|c.972+38G>A||||||,T|non_coding_exon_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000480276|processed_transcript|3/3|n.450G>A|||||| 22 17670807 . C T . . ANN=T|sequence_feature|LOW|CECR1|ENSG00000093072|beta_strand|ENST00000330232|protein_coding|4/7|c.249+25G>A||||||,T|sequence_feature|LOW|CECR1|ENSG00000093072|beta_strand|ENST00000330232|protein_coding|3/7|c.249+25G>A||||||,T|sequence_feature|LOW|CECR1|ENSG00000093072|beta_strand|ENST00000399837|protein_coding|7/10|c.972+25G>A||||||,T|sequence_feature|LOW|CECR1|ENSG00000093072|beta_strand|ENST00000399837|protein_coding|6/10|c.972+25G>A||||||,T|upstream_gene_variant|MODIFIER|AC005300.5|ENSG00000236325|transcript|ENST00000428401|processed_pseudogene||n.-1C>T|||||3019|,T|upstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000469063|processed_transcript||n.-1G>A|||||1190|,T|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|5/8|c.972+25G>A||||||,T|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000399839|protein_coding|6/9|c.972+25G>A||||||,T|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000330232|protein_coding|3/6|c.249+25G>A||||||,T|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000449907|protein_coding|6/9|c.846+25G>A||||||,T|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|6/9|c.972+25G>A||||||,T|non_coding_exon_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000480276|processed_transcript|3/3|n.437G>A|||||| 22 17670854 . G A . . ANN=A|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|5/9|c.950C>T|p.Thr317Met|1162/3925|950/1536|317/511||,A|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000399839|protein_coding|6/10|c.950C>T|p.Thr317Met|1221/3986|950/1536|317/511||,A|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000330232|protein_coding|3/7|c.227C>T|p.Thr76Met|432/3195|227/813|76/270||,A|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000449907|protein_coding|6/10|c.824C>T|p.Thr275Met|993/2072|824/1410|275/469||,A|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|6/10|c.950C>T|p.Thr317Met|1017/1603|950/1536|317/511||,A|sequence_feature|LOW|CECR1|ENSG00000093072|turn|ENST00000330232|protein_coding|3/7|c.227C>T||||||,A|sequence_feature|LOW|CECR1|ENSG00000093072|turn|ENST00000399837|protein_coding|6/10|c.950C>T||||||,A|upstream_gene_variant|MODIFIER|AC005300.5|ENSG00000236325|transcript|ENST00000428401|processed_pseudogene||n.-1G>A|||||2972|,A|upstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000469063|processed_transcript||n.-1C>T|||||1237|,A|non_coding_exon_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000480276|processed_transcript|3/3|n.390C>T|||||| 22 17670877 . C T . . ANN=T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|5/9|c.927G>A|p.Met309Ile|1139/3925|927/1536|309/511||,T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000399839|protein_coding|6/10|c.927G>A|p.Met309Ile|1198/3986|927/1536|309/511||,T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000330232|protein_coding|3/7|c.204G>A|p.Met68Ile|409/3195|204/813|68/270||,T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000449907|protein_coding|6/10|c.801G>A|p.Met267Ile|970/2072|801/1410|267/469||,T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|6/10|c.927G>A|p.Met309Ile|994/1603|927/1536|309/511||,T|sequence_feature|LOW|CECR1|ENSG00000093072|helix|ENST00000330232|protein_coding|3/7|c.204G>A||||||,T|sequence_feature|LOW|CECR1|ENSG00000093072|helix|ENST00000399837|protein_coding|6/10|c.927G>A||||||,T|upstream_gene_variant|MODIFIER|AC005300.5|ENSG00000236325|transcript|ENST00000428401|processed_pseudogene||n.-1C>T|||||2949|,T|upstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000469063|processed_transcript||n.-1G>A|||||1260|,T|non_coding_exon_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000480276|processed_transcript|3/3|n.367G>A|||||| 22 17670945 . A G . . ANN=G|upstream_gene_variant|MODIFIER|AC005300.5|ENSG00000236325|transcript|ENST00000428401|processed_pseudogene||n.-1A>G|||||2881|,G|upstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000469063|processed_transcript||n.-1T>C|||||1328|,G|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|4/8|c.882-23T>C||||||,G|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000399839|protein_coding|5/9|c.882-23T>C||||||,G|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000330232|protein_coding|2/6|c.159-23T>C||||||,G|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000449907|protein_coding|5/9|c.756-23T>C||||||,G|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|5/9|c.882-23T>C||||||,G|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000480276|processed_transcript|2/2|n.322-23T>C|||||| 22 17672671 . G A . . ANN=A|synonymous_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|4/9|c.783C>T|p.Asp261Asp|995/3925|783/1536|261/511||,A|synonymous_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000399839|protein_coding|5/10|c.783C>T|p.Asp261Asp|1054/3986|783/1536|261/511||,A|synonymous_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000330232|protein_coding|2/7|c.60C>T|p.Asp20Asp|265/3195|60/813|20/270||,A|synonymous_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000449907|protein_coding|5/10|c.657C>T|p.Asp219Asp|826/2072|657/1410|219/469||,A|synonymous_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|5/10|c.783C>T|p.Asp261Asp|850/1603|783/1536|261/511||,A|upstream_gene_variant|MODIFIER|AC005300.5|ENSG00000236325|transcript|ENST00000428401|processed_pseudogene||n.-1G>A|||||1155|,A|upstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000469063|processed_transcript||n.-1C>T|||||3054|,A|non_coding_exon_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000480276|processed_transcript|2/3|n.223C>T|||||| 22 17680392 . C T . . ANN=T|upstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000480276|processed_transcript||n.-1G>A|||||711|,T|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|3/8|c.753+4061G>A||||||,T|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000399839|protein_coding|4/9|c.753+4061G>A||||||,T|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000330232|protein_coding|1/6|c.30+47G>A||||||,T|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000449907|protein_coding|4/9|c.627+4061G>A||||||,T|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|4/9|c.753+4061G>A|||||| 22 17684498 . G A . . ANN=A|synonymous_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|3/9|c.708C>T|p.Tyr236Tyr|920/3925|708/1536|236/511||,A|synonymous_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000399839|protein_coding|4/10|c.708C>T|p.Tyr236Tyr|979/3986|708/1536|236/511||,A|synonymous_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000449907|protein_coding|4/10|c.582C>T|p.Tyr194Tyr|751/2072|582/1410|194/469||,A|synonymous_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|4/10|c.708C>T|p.Tyr236Tyr|775/1603|708/1536|236/511||,A|sequence_feature|LOW|CECR1|ENSG00000093072|helix|ENST00000399837|protein_coding|4/10|c.708C>T||||||,A|upstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000330232|protein_coding||c.-206C>T|||||3825|,A|upstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000480276|processed_transcript||n.-1C>T|||||4817|,A|downstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000543038|protein_coding||c.*549C>T|||||3549|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000441548|protein_coding||c.*581C>T|||||3598|WARNING_TRANSCRIPT_INCOMPLETE 22 17684517 . C T . . ANN=T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|3/9|c.689G>A|p.Arg230Gln|901/3925|689/1536|230/511||,T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000399839|protein_coding|4/10|c.689G>A|p.Arg230Gln|960/3986|689/1536|230/511||,T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000449907|protein_coding|4/10|c.563G>A|p.Arg188Gln|732/2072|563/1410|188/469||,T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|4/10|c.689G>A|p.Arg230Gln|756/1603|689/1536|230/511||,T|sequence_feature|LOW|CECR1|ENSG00000093072|helix|ENST00000399837|protein_coding|4/10|c.689G>A||||||,T|upstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000330232|protein_coding||c.-206G>A|||||3844|,T|upstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000480276|processed_transcript||n.-1G>A|||||4836|,T|downstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000543038|protein_coding||c.*549G>A|||||3530|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000441548|protein_coding||c.*581G>A|||||3579|WARNING_TRANSCRIPT_INCOMPLETE 22 17684546 . G A . . ANN=A|synonymous_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|3/9|c.660C>T|p.Tyr220Tyr|872/3925|660/1536|220/511||,A|synonymous_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000399839|protein_coding|4/10|c.660C>T|p.Tyr220Tyr|931/3986|660/1536|220/511||,A|synonymous_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000449907|protein_coding|4/10|c.534C>T|p.Tyr178Tyr|703/2072|534/1410|178/469||,A|synonymous_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|4/10|c.660C>T|p.Tyr220Tyr|727/1603|660/1536|220/511||,A|upstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000330232|protein_coding||c.-206C>T|||||3873|,A|upstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000480276|processed_transcript||n.-1C>T|||||4865|,A|downstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000543038|protein_coding||c.*549C>T|||||3501|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000441548|protein_coding||c.*581C>T|||||3550|WARNING_TRANSCRIPT_INCOMPLETE 22 17684619 . A G . . ANN=G|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|3/9|c.587T>C|p.Ile196Thr|799/3925|587/1536|196/511||,G|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000399839|protein_coding|4/10|c.587T>C|p.Ile196Thr|858/3986|587/1536|196/511||,G|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000449907|protein_coding|4/10|c.461T>C|p.Ile154Thr|630/2072|461/1410|154/469||,G|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|4/10|c.587T>C|p.Ile196Thr|654/1603|587/1536|196/511||,G|sequence_feature|LOW|CECR1|ENSG00000093072|helix|ENST00000399837|protein_coding|4/10|c.587T>C||||||,G|upstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000330232|protein_coding||c.-206T>C|||||3946|,G|upstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000480276|processed_transcript||n.-1T>C|||||4938|,G|downstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000543038|protein_coding||c.*549T>C|||||3428|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000441548|protein_coding||c.*581T>C|||||3477|WARNING_TRANSCRIPT_INCOMPLETE 22 17684628 . G T . . ANN=T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|3/9|c.578C>A|p.Pro193Gln|790/3925|578/1536|193/511||,T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000399839|protein_coding|4/10|c.578C>A|p.Pro193Gln|849/3986|578/1536|193/511||,T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000449907|protein_coding|4/10|c.452C>A|p.Pro151Gln|621/2072|452/1410|151/469||,T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|4/10|c.578C>A|p.Pro193Gln|645/1603|578/1536|193/511||,T|sequence_feature|LOW|CECR1|ENSG00000093072|helix|ENST00000399837|protein_coding|4/10|c.578C>A||||||,T|upstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000330232|protein_coding||c.-206C>A|||||3955|,T|upstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000480276|processed_transcript||n.-1C>A|||||4947|,T|downstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000543038|protein_coding||c.*549C>A|||||3419|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000441548|protein_coding||c.*581C>A|||||3468|WARNING_TRANSCRIPT_INCOMPLETE 22 17687954 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|2/8|c.542+7A>G||||||,C|splice_region_variant&intron_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000399839|protein_coding|3/9|c.542+7A>G||||||,C|splice_region_variant&intron_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000449907|protein_coding|3/9|c.416+7A>G||||||,C|splice_region_variant&intron_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|3/9|c.542+7A>G||||||,C|sequence_feature|LOW|CECR1|ENSG00000093072|helix|ENST00000399837|protein_coding|4/10|c.542+7A>G||||||,C|sequence_feature|LOW|CECR1|ENSG00000093072|helix|ENST00000399837|protein_coding|3/10|c.542+7A>G||||||,C|sequence_feature|LOW|CECR1|ENSG00000093072|region_of_interest:PRB_domain|ENST00000399837|protein_coding|4/10|c.542+7A>G||||||,C|sequence_feature|LOW|CECR1|ENSG00000093072|region_of_interest:PRB_domain|ENST00000399837|protein_coding|3/10|c.542+7A>G||||||,C|upstream_gene_variant|MODIFIER|AC005399.1|ENSG00000269774|transcript|ENST00000600045|pseudogene||n.-1T>C|||||2819|,C|downstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000543038|protein_coding||c.*549A>G|||||93|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000441548|protein_coding||c.*581A>G|||||142|WARNING_TRANSCRIPT_INCOMPLETE 22 17687992 . G A . . ANN=A|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|2/9|c.511C>T|p.Arg171Trp|723/3925|511/1536|171/511||,A|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000399839|protein_coding|3/10|c.511C>T|p.Arg171Trp|782/3986|511/1536|171/511||,A|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000449907|protein_coding|3/10|c.385C>T|p.Arg129Trp|554/2072|385/1410|129/469||,A|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|3/10|c.511C>T|p.Arg171Trp|578/1603|511/1536|171/511||,A|sequence_feature|LOW|CECR1|ENSG00000093072|region_of_interest:PRB_domain|ENST00000399837|protein_coding|4/10|c.511C>T||||||,A|sequence_feature|LOW|CECR1|ENSG00000093072|region_of_interest:PRB_domain|ENST00000399837|protein_coding|3/10|c.511C>T||||||,A|sequence_feature|LOW|CECR1|ENSG00000093072|beta_strand|ENST00000399837|protein_coding|3/10|c.511C>T||||||,A|upstream_gene_variant|MODIFIER|AC005399.1|ENSG00000269774|transcript|ENST00000600045|pseudogene||n.-1G>A|||||2781|,A|downstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000543038|protein_coding||c.*549C>T|||||55|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000441548|protein_coding||c.*581C>T|||||104|WARNING_TRANSCRIPT_INCOMPLETE 22 17687997 . C T . . ANN=T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|2/9|c.506G>A|p.Arg169Gln|718/3925|506/1536|169/511||,T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000399839|protein_coding|3/10|c.506G>A|p.Arg169Gln|777/3986|506/1536|169/511||,T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000449907|protein_coding|3/10|c.380G>A|p.Arg127Gln|549/2072|380/1410|127/469||,T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|3/10|c.506G>A|p.Arg169Gln|573/1603|506/1536|169/511||,T|sequence_feature|LOW|CECR1|ENSG00000093072|region_of_interest:PRB_domain|ENST00000399837|protein_coding|4/10|c.506G>A||||||,T|sequence_feature|LOW|CECR1|ENSG00000093072|region_of_interest:PRB_domain|ENST00000399837|protein_coding|3/10|c.506G>A||||||,T|sequence_feature|LOW|CECR1|ENSG00000093072|helix|ENST00000399837|protein_coding|3/10|c.506G>A||||||,T|upstream_gene_variant|MODIFIER|AC005399.1|ENSG00000269774|transcript|ENST00000600045|pseudogene||n.-1C>T|||||2776|,T|downstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000543038|protein_coding||c.*549G>A|||||50|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000441548|protein_coding||c.*581G>A|||||99|WARNING_TRANSCRIPT_INCOMPLETE 22 17688077 . C A . . ANN=A|synonymous_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|2/9|c.426G>T|p.Gly142Gly|638/3925|426/1536|142/511||,A|synonymous_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000399839|protein_coding|3/10|c.426G>T|p.Gly142Gly|697/3986|426/1536|142/511||,A|synonymous_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000449907|protein_coding|3/10|c.300G>T|p.Gly100Gly|469/2072|300/1410|100/469||,A|synonymous_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|3/10|c.426G>T|p.Gly142Gly|493/1603|426/1536|142/511||,A|synonymous_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000543038|protein_coding|3/3|c.426G>T|p.Gly142Gly|519/549|426/456|142/151||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|CECR1|ENSG00000093072|region_of_interest:PRB_domain|ENST00000399837|protein_coding|4/10|c.426G>T||||||,A|sequence_feature|LOW|CECR1|ENSG00000093072|region_of_interest:PRB_domain|ENST00000399837|protein_coding|3/10|c.426G>T||||||,A|sequence_feature|LOW|CECR1|ENSG00000093072|disulfide_bond|ENST00000399837|protein_coding|3/10|c.426G>T||||||,A|upstream_gene_variant|MODIFIER|AC005399.1|ENSG00000269774|transcript|ENST00000600045|pseudogene||n.-1C>A|||||2696|,A|downstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000441548|protein_coding||c.*581G>T|||||19|WARNING_TRANSCRIPT_INCOMPLETE 22 17688141 . A G . . ANN=G|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|2/9|c.362T>C|p.Met121Thr|574/3925|362/1536|121/511||,G|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000399839|protein_coding|3/10|c.362T>C|p.Met121Thr|633/3986|362/1536|121/511||,G|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000449907|protein_coding|3/10|c.236T>C|p.Met79Thr|405/2072|236/1410|79/469||,G|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|3/10|c.362T>C|p.Met121Thr|429/1603|362/1536|121/511||,G|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000543038|protein_coding|3/3|c.362T>C|p.Met121Thr|455/549|362/456|121/151||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000441548|protein_coding|3/3|c.362T>C|p.Met121Thr|536/581|362/407|121/134||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|CECR1|ENSG00000093072|helix|ENST00000399837|protein_coding|3/10|c.362T>C||||||,G|upstream_gene_variant|MODIFIER|AC005399.1|ENSG00000269774|transcript|ENST00000600045|pseudogene||n.-1A>G|||||2632| 22 17688213 . G A . . ANN=A|sequence_feature|LOW|CECR1|ENSG00000093072|beta_strand|ENST00000399837|protein_coding|2/10|c.323-33C>T||||||,A|sequence_feature|LOW|CECR1|ENSG00000093072|beta_strand|ENST00000399837|protein_coding|3/10|c.323-33C>T||||||,A|upstream_gene_variant|MODIFIER|AC005399.1|ENSG00000269774|transcript|ENST00000600045|pseudogene||n.-1G>A|||||2560|,A|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|1/8|c.323-33C>T||||||,A|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000399839|protein_coding|2/9|c.323-33C>T||||||,A|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000449907|protein_coding|2/9|c.197-33C>T||||||,A|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|2/9|c.323-33C>T||||||,A|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000543038|protein_coding|2/2|c.323-33C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000441548|protein_coding|2/2|c.323-33C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 17688215 . G A . . ANN=A|sequence_feature|LOW|CECR1|ENSG00000093072|beta_strand|ENST00000399837|protein_coding|2/10|c.323-35C>T||||||,A|sequence_feature|LOW|CECR1|ENSG00000093072|beta_strand|ENST00000399837|protein_coding|3/10|c.323-35C>T||||||,A|upstream_gene_variant|MODIFIER|AC005399.1|ENSG00000269774|transcript|ENST00000600045|pseudogene||n.-1G>A|||||2558|,A|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|1/8|c.323-35C>T||||||,A|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000399839|protein_coding|2/9|c.323-35C>T||||||,A|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000449907|protein_coding|2/9|c.197-35C>T||||||,A|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|2/9|c.323-35C>T||||||,A|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000543038|protein_coding|2/2|c.323-35C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000441548|protein_coding|2/2|c.323-35C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 17690409 . G A . . ANN=A|synonymous_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|1/9|c.159C>T|p.Asn53Asn|371/3925|159/1536|53/511||,A|synonymous_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000399839|protein_coding|2/10|c.159C>T|p.Asn53Asn|430/3986|159/1536|53/511||,A|synonymous_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000449907|protein_coding|2/10|c.33C>T|p.Asn11Asn|202/2072|33/1410|11/469||,A|synonymous_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|2/10|c.159C>T|p.Asn53Asn|226/1603|159/1536|53/511||,A|synonymous_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000543038|protein_coding|2/3|c.159C>T|p.Asn53Asn|252/549|159/456|53/151||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000441548|protein_coding|2/3|c.159C>T|p.Asn53Asn|333/581|159/407|53/134||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|CECR1|ENSG00000093072|region_of_interest:Dimerization|ENST00000399837|protein_coding|2/10|c.159C>T||||||,A|upstream_gene_variant|MODIFIER|AC005399.1|ENSG00000269774|transcript|ENST00000600045|pseudogene||n.-1G>A|||||364|,A|upstream_gene_variant|MODIFIER|FAM32B|ENSG00000203416|transcript|ENST00000344033|processed_pseudogene||n.-1G>A|||||4209| 22 17690430 . C G . . ANN=G|synonymous_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|1/9|c.138G>C|p.Leu46Leu|350/3925|138/1536|46/511||,G|synonymous_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000399839|protein_coding|2/10|c.138G>C|p.Leu46Leu|409/3986|138/1536|46/511||,G|synonymous_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000449907|protein_coding|2/10|c.12G>C|p.Leu4Leu|181/2072|12/1410|4/469||,G|synonymous_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|2/10|c.138G>C|p.Leu46Leu|205/1603|138/1536|46/511||,G|synonymous_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000543038|protein_coding|2/3|c.138G>C|p.Leu46Leu|231/549|138/456|46/151||WARNING_TRANSCRIPT_NO_STOP_CODON,G|synonymous_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000441548|protein_coding|2/3|c.138G>C|p.Leu46Leu|312/581|138/407|46/134||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|CECR1|ENSG00000093072|region_of_interest:Dimerization|ENST00000399837|protein_coding|2/10|c.138G>C||||||,G|sequence_feature|LOW|CECR1|ENSG00000093072|turn|ENST00000399837|protein_coding|2/10|c.138G>C||||||,G|upstream_gene_variant|MODIFIER|AC005399.1|ENSG00000269774|transcript|ENST00000600045|pseudogene||n.-1C>G|||||343|,G|upstream_gene_variant|MODIFIER|FAM32B|ENSG00000203416|transcript|ENST00000344033|processed_pseudogene||n.-1C>G|||||4188| 22 17690574 . G C . . ANN=C|splice_region_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000399839|protein_coding|2/10|c.-7C>G||||||,C|5_prime_UTR_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|1/9|c.-7C>G|||||7|,C|5_prime_UTR_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000399839|protein_coding|2/10|c.-7C>G|||||7|,C|5_prime_UTR_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|2/10|c.-7C>G|||||7|,C|5_prime_UTR_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000543038|protein_coding|2/3|c.-7C>G|||||7|WARNING_TRANSCRIPT_NO_STOP_CODON,C|5_prime_UTR_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000441548|protein_coding|2/3|c.-7C>G|||||7|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|AC005399.1|ENSG00000269774|transcript|ENST00000600045|pseudogene||n.-1G>C|||||199|,C|upstream_gene_variant|MODIFIER|FAM32B|ENSG00000203416|transcript|ENST00000344033|processed_pseudogene||n.-1G>C|||||4044|,C|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000449907|protein_coding|1/9|c.-47-86C>G|||||| 22 17690609 . C A . . ANN=A|5_prime_UTR_premature_start_codon_gain_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|1/9|c.-42G>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|2/10|c.-42G>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000441548|protein_coding|2/3|c.-42G>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|5_prime_UTR_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|1/9|c.-42G>T|||||42|,A|5_prime_UTR_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|2/10|c.-42G>T|||||42|,A|5_prime_UTR_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000441548|protein_coding|2/3|c.-42G>T|||||42|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|AC005399.1|ENSG00000269774|transcript|ENST00000600045|pseudogene||n.-1C>A|||||164|,A|upstream_gene_variant|MODIFIER|FAM32B|ENSG00000203416|transcript|ENST00000344033|processed_pseudogene||n.-1C>A|||||4009|,A|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000399839|protein_coding|1/9|c.-8-34G>T||||||,A|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000449907|protein_coding|1/9|c.-47-121G>T||||||,A|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000543038|protein_coding|1/2|c.-13-29G>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 17690610 . G A . . ANN=A|5_prime_UTR_premature_start_codon_gain_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|1/9|c.-43C>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|2/10|c.-43C>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|CECR1|ENSG00000093072|transcript|ENST00000441548|protein_coding|2/3|c.-43C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|5_prime_UTR_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|1/9|c.-43C>T|||||43|,A|5_prime_UTR_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|2/10|c.-43C>T|||||43|,A|5_prime_UTR_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000441548|protein_coding|2/3|c.-43C>T|||||43|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|AC005399.1|ENSG00000269774|transcript|ENST00000600045|pseudogene||n.-1G>A|||||163|,A|upstream_gene_variant|MODIFIER|FAM32B|ENSG00000203416|transcript|ENST00000344033|processed_pseudogene||n.-1G>A|||||4008|,A|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000399839|protein_coding|1/9|c.-8-35C>T||||||,A|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000449907|protein_coding|1/9|c.-47-122C>T||||||,A|intron_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000543038|protein_coding|1/2|c.-13-30C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 18062738 . C G . . ANN=G|splice_region_variant&intron_variant|LOW|SLC25A18|ENSG00000182902|transcript|ENST00000327451|protein_coding|3/10|c.20+8C>G||||||,G|splice_region_variant&intron_variant|LOW|SLC25A18|ENSG00000182902|transcript|ENST00000399813|protein_coding|2/9|c.20+8C>G||||||,G|splice_region_variant&intron_variant|LOW|SLC25A18|ENSG00000182902|transcript|ENST00000497401|processed_transcript|2/5|n.506+8C>G||||||,G|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_1|ENST00000399813|protein_coding|4/10|c.20+8C>G||||||,G|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_1|ENST00000399813|protein_coding|2/10|c.20+8C>G||||||,G|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_1|ENST00000399813|protein_coding|5/10|c.20+8C>G||||||,G|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_1|ENST00000399813|protein_coding|3/10|c.20+8C>G||||||,G|downstream_gene_variant|MODIFIER|AC004019.13|ENSG00000236754|transcript|ENST00000443935|antisense||n.*1838G>C|||||185|,G|non_coding_exon_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000467228|retained_intron|3/4|n.416C>G|||||| 22 18062777 . G A . . ANN=A|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_1|ENST00000399813|protein_coding|4/10|c.20+47G>A||||||,A|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_1|ENST00000399813|protein_coding|2/10|c.20+47G>A||||||,A|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_1|ENST00000399813|protein_coding|5/10|c.20+47G>A||||||,A|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_1|ENST00000399813|protein_coding|3/10|c.20+47G>A||||||,A|downstream_gene_variant|MODIFIER|AC004019.13|ENSG00000236754|transcript|ENST00000443935|antisense||n.*1838C>T|||||146|,A|intron_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000327451|protein_coding|3/10|c.20+47G>A||||||,A|intron_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000399813|protein_coding|2/9|c.20+47G>A||||||,A|intron_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000497401|processed_transcript|2/5|n.506+47G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000467228|retained_intron|3/4|n.455G>A|||||| 22 18063849 . G A . . ANN=A|missense_variant|MODERATE|SLC25A18|ENSG00000182902|transcript|ENST00000327451|protein_coding|4/11|c.67G>A|p.Val23Met|605/2244|67/948|23/315||,A|missense_variant|MODERATE|SLC25A18|ENSG00000182902|transcript|ENST00000399813|protein_coding|3/10|c.67G>A|p.Val23Met|531/2057|67/948|23/315||,A|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_1|ENST00000399813|protein_coding|4/10|c.67G>A||||||,A|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_1|ENST00000399813|protein_coding|2/10|c.67G>A||||||,A|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_1|ENST00000399813|protein_coding|5/10|c.67G>A||||||,A|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_1|ENST00000399813|protein_coding|3/10|c.67G>A||||||,A|sequence_feature|LOW|SLC25A18|ENSG00000182902|transmembrane_region:Transmembrane_region|ENST00000399813|protein_coding|3/10|c.67G>A||||||,A|intron_variant|MODIFIER|AC004019.13|ENSG00000236754|transcript|ENST00000443935|antisense|3/3|n.1663+251C>T||||||,A|non_coding_exon_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000467228|retained_intron|3/4|n.1527G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000497401|processed_transcript|3/6|n.553G>A|||||| 22 18064097 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|AC004019.13|ENSG00000236754|transcript|ENST00000443935|antisense|3/3|n.1663+3A>G||||||,C|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_1|ENST00000399813|protein_coding|4/10|c.144-27T>C||||||,C|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_1|ENST00000399813|protein_coding|2/10|c.144-27T>C||||||,C|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_1|ENST00000399813|protein_coding|5/10|c.144-27T>C||||||,C|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_1|ENST00000399813|protein_coding|3/10|c.144-27T>C||||||,C|intron_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000327451|protein_coding|4/10|c.144-27T>C||||||,C|intron_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000399813|protein_coding|3/9|c.144-27T>C||||||,C|intron_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000467228|retained_intron|3/3|n.1604-27T>C||||||,C|intron_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000497401|processed_transcript|3/5|n.630-27T>C|||||| 22 18065279 . C G . . ANN=G|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_1|ENST00000399813|protein_coding|4/10|c.200-50C>G||||||,G|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_1|ENST00000399813|protein_coding|2/10|c.200-50C>G||||||,G|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_1|ENST00000399813|protein_coding|5/10|c.200-50C>G||||||,G|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_1|ENST00000399813|protein_coding|3/10|c.200-50C>G||||||,G|sequence_feature|LOW|SLC25A18|ENSG00000182902|transmembrane_region:Transmembrane_region|ENST00000399813|protein_coding|4/10|c.200-50C>G||||||,G|sequence_feature|LOW|SLC25A18|ENSG00000182902|transmembrane_region:Transmembrane_region|ENST00000399813|protein_coding|5/10|c.200-50C>G||||||,G|downstream_gene_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000467228|retained_intron||n.*2454C>G|||||305|,G|intron_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000327451|protein_coding|5/10|c.200-50C>G||||||,G|intron_variant|MODIFIER|AC004019.13|ENSG00000236754|transcript|ENST00000443935|antisense|1/3|n.1327-141G>C||||||,G|intron_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000399813|protein_coding|4/9|c.200-50C>G||||||,G|intron_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000497401|processed_transcript|4/5|n.686-50C>G|||||| 22 18065309 . A G . . ANN=G|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_1|ENST00000399813|protein_coding|4/10|c.200-20A>G||||||,G|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_1|ENST00000399813|protein_coding|2/10|c.200-20A>G||||||,G|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_1|ENST00000399813|protein_coding|5/10|c.200-20A>G||||||,G|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_1|ENST00000399813|protein_coding|3/10|c.200-20A>G||||||,G|sequence_feature|LOW|SLC25A18|ENSG00000182902|transmembrane_region:Transmembrane_region|ENST00000399813|protein_coding|4/10|c.200-20A>G||||||,G|sequence_feature|LOW|SLC25A18|ENSG00000182902|transmembrane_region:Transmembrane_region|ENST00000399813|protein_coding|5/10|c.200-20A>G||||||,G|downstream_gene_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000467228|retained_intron||n.*2454A>G|||||335|,G|intron_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000327451|protein_coding|5/10|c.200-20A>G||||||,G|intron_variant|MODIFIER|AC004019.13|ENSG00000236754|transcript|ENST00000443935|antisense|1/3|n.1327-171T>C||||||,G|intron_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000399813|protein_coding|4/9|c.200-20A>G||||||,G|intron_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000497401|processed_transcript|4/5|n.686-20A>G|||||| 22 18065342 . C T . . ANN=T|synonymous_variant|LOW|SLC25A18|ENSG00000182902|transcript|ENST00000327451|protein_coding|6/11|c.213C>T|p.Asn71Asn|751/2244|213/948|71/315||,T|synonymous_variant|LOW|SLC25A18|ENSG00000182902|transcript|ENST00000399813|protein_coding|5/10|c.213C>T|p.Asn71Asn|677/2057|213/948|71/315||,T|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_1|ENST00000399813|protein_coding|4/10|c.213C>T||||||,T|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_1|ENST00000399813|protein_coding|2/10|c.213C>T||||||,T|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_1|ENST00000399813|protein_coding|5/10|c.213C>T||||||,T|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_1|ENST00000399813|protein_coding|3/10|c.213C>T||||||,T|sequence_feature|LOW|SLC25A18|ENSG00000182902|transmembrane_region:Transmembrane_region|ENST00000399813|protein_coding|4/10|c.213C>T||||||,T|sequence_feature|LOW|SLC25A18|ENSG00000182902|transmembrane_region:Transmembrane_region|ENST00000399813|protein_coding|5/10|c.213C>T||||||,T|downstream_gene_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000467228|retained_intron||n.*2454C>T|||||368|,T|intron_variant|MODIFIER|AC004019.13|ENSG00000236754|transcript|ENST00000443935|antisense|1/3|n.1327-204G>A||||||,T|non_coding_exon_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000497401|processed_transcript|5/6|n.699C>T|||||| 22 18065345 . C A . . ANN=A|synonymous_variant|LOW|SLC25A18|ENSG00000182902|transcript|ENST00000327451|protein_coding|6/11|c.216C>A|p.Leu72Leu|754/2244|216/948|72/315||,A|synonymous_variant|LOW|SLC25A18|ENSG00000182902|transcript|ENST00000399813|protein_coding|5/10|c.216C>A|p.Leu72Leu|680/2057|216/948|72/315||,A|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_1|ENST00000399813|protein_coding|4/10|c.216C>A||||||,A|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_1|ENST00000399813|protein_coding|2/10|c.216C>A||||||,A|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_1|ENST00000399813|protein_coding|5/10|c.216C>A||||||,A|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_1|ENST00000399813|protein_coding|3/10|c.216C>A||||||,A|sequence_feature|LOW|SLC25A18|ENSG00000182902|transmembrane_region:Transmembrane_region|ENST00000399813|protein_coding|4/10|c.216C>A||||||,A|sequence_feature|LOW|SLC25A18|ENSG00000182902|transmembrane_region:Transmembrane_region|ENST00000399813|protein_coding|5/10|c.216C>A||||||,A|downstream_gene_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000467228|retained_intron||n.*2454C>A|||||371|,A|intron_variant|MODIFIER|AC004019.13|ENSG00000236754|transcript|ENST00000443935|antisense|1/3|n.1327-207G>T||||||,A|non_coding_exon_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000497401|processed_transcript|5/6|n.702C>A|||||| 22 18065385 . A C . . ANN=C|missense_variant|MODERATE|SLC25A18|ENSG00000182902|transcript|ENST00000327451|protein_coding|6/11|c.256A>C|p.Asn86His|794/2244|256/948|86/315||,C|missense_variant|MODERATE|SLC25A18|ENSG00000182902|transcript|ENST00000399813|protein_coding|5/10|c.256A>C|p.Asn86His|720/2057|256/948|86/315||,C|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_1|ENST00000399813|protein_coding|4/10|c.256A>C||||||,C|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_1|ENST00000399813|protein_coding|2/10|c.256A>C||||||,C|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_1|ENST00000399813|protein_coding|5/10|c.256A>C||||||,C|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_1|ENST00000399813|protein_coding|3/10|c.256A>C||||||,C|downstream_gene_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000467228|retained_intron||n.*2454A>C|||||411|,C|intron_variant|MODIFIER|AC004019.13|ENSG00000236754|transcript|ENST00000443935|antisense|1/3|n.1327-247T>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000497401|processed_transcript|5/6|n.742A>C|||||| 22 18065388 . G A . . ANN=A|missense_variant|MODERATE|SLC25A18|ENSG00000182902|transcript|ENST00000327451|protein_coding|6/11|c.259G>A|p.Asp87Asn|797/2244|259/948|87/315||,A|missense_variant|MODERATE|SLC25A18|ENSG00000182902|transcript|ENST00000399813|protein_coding|5/10|c.259G>A|p.Asp87Asn|723/2057|259/948|87/315||,A|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_1|ENST00000399813|protein_coding|4/10|c.259G>A||||||,A|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_1|ENST00000399813|protein_coding|2/10|c.259G>A||||||,A|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_1|ENST00000399813|protein_coding|5/10|c.259G>A||||||,A|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_1|ENST00000399813|protein_coding|3/10|c.259G>A||||||,A|downstream_gene_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000467228|retained_intron||n.*2454G>A|||||414|,A|intron_variant|MODIFIER|AC004019.13|ENSG00000236754|transcript|ENST00000443935|antisense|1/3|n.1327-250C>T||||||,A|non_coding_exon_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000497401|processed_transcript|5/6|n.745G>A|||||| 22 18066150 . C A . . ANN=A|downstream_gene_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000467228|retained_intron||n.*2454C>A|||||1176|,A|intron_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000327451|protein_coding|6/10|c.291-32C>A||||||,A|intron_variant|MODIFIER|AC004019.13|ENSG00000236754|transcript|ENST00000443935|antisense|1/3|n.1327-1012G>T||||||,A|intron_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000399813|protein_coding|5/9|c.291-32C>A||||||,A|intron_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000497401|processed_transcript|5/5|n.777-32C>A|||||| 22 18066269 . C T . . ANN=T|synonymous_variant|LOW|SLC25A18|ENSG00000182902|transcript|ENST00000327451|protein_coding|7/11|c.378C>T|p.Leu126Leu|916/2244|378/948|126/315||,T|synonymous_variant|LOW|SLC25A18|ENSG00000182902|transcript|ENST00000399813|protein_coding|6/10|c.378C>T|p.Leu126Leu|842/2057|378/948|126/315||,T|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_2|ENST00000399813|protein_coding|7/10|c.378C>T||||||,T|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_2|ENST00000399813|protein_coding|6/10|c.378C>T||||||,T|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_2|ENST00000399813|protein_coding|8/10|c.378C>T||||||,T|sequence_feature|LOW|SLC25A18|ENSG00000182902|transmembrane_region:Transmembrane_region|ENST00000399813|protein_coding|6/10|c.378C>T||||||,T|downstream_gene_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000467228|retained_intron||n.*2454C>T|||||1295|,T|downstream_gene_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000497401|processed_transcript||n.*845C>T|||||19|,T|intron_variant|MODIFIER|AC004019.13|ENSG00000236754|transcript|ENST00000443935|antisense|1/3|n.1327-1131G>A|||||| 22 18066342 . G C . . ANN=C|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_2|ENST00000399813|protein_coding|7/10|c.409+42G>C||||||,C|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_2|ENST00000399813|protein_coding|6/10|c.409+42G>C||||||,C|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_2|ENST00000399813|protein_coding|8/10|c.409+42G>C||||||,C|downstream_gene_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000467228|retained_intron||n.*2454G>C|||||1368|,C|downstream_gene_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000497401|processed_transcript||n.*845G>C|||||92|,C|intron_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000327451|protein_coding|7/10|c.409+42G>C||||||,C|intron_variant|MODIFIER|AC004019.13|ENSG00000236754|transcript|ENST00000443935|antisense|1/3|n.1327-1204C>G||||||,C|intron_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000399813|protein_coding|6/9|c.409+42G>C|||||| 22 18069895 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|SLC25A18|ENSG00000182902|transcript|ENST00000327451|protein_coding|7/10|c.410-7C>T||||||,T|splice_region_variant&intron_variant|LOW|SLC25A18|ENSG00000182902|transcript|ENST00000399813|protein_coding|6/9|c.410-7C>T||||||,T|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_2|ENST00000399813|protein_coding|7/10|c.410-7C>T||||||,T|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_2|ENST00000399813|protein_coding|6/10|c.410-7C>T||||||,T|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_2|ENST00000399813|protein_coding|8/10|c.410-7C>T||||||,T|downstream_gene_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000467228|retained_intron||n.*2454C>T|||||4921|,T|downstream_gene_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000497401|processed_transcript||n.*845C>T|||||3645|,T|intron_variant|MODIFIER|AC004019.13|ENSG00000236754|transcript|ENST00000443935|antisense|1/3|n.1326+738G>A|||||| 22 18069904 . G A . . ANN=A|missense_variant&splice_region_variant|MODERATE|SLC25A18|ENSG00000182902|transcript|ENST00000327451|protein_coding|8/11|c.412G>A|p.Val138Ile|950/2244|412/948|138/315||,A|missense_variant&splice_region_variant|MODERATE|SLC25A18|ENSG00000182902|transcript|ENST00000399813|protein_coding|7/10|c.412G>A|p.Val138Ile|876/2057|412/948|138/315||,A|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_2|ENST00000399813|protein_coding|7/10|c.412G>A||||||,A|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_2|ENST00000399813|protein_coding|6/10|c.412G>A||||||,A|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_2|ENST00000399813|protein_coding|8/10|c.412G>A||||||,A|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000253413|protein_coding||c.*864C>T|||||4998|,A|downstream_gene_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000467228|retained_intron||n.*2454G>A|||||4930|,A|downstream_gene_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000497401|processed_transcript||n.*845G>A|||||3654|,A|intron_variant|MODIFIER|AC004019.13|ENSG00000236754|transcript|ENST00000443935|antisense|1/3|n.1326+729C>T|||||| 22 18070015 . C T . . ANN=T|missense_variant|MODERATE|SLC25A18|ENSG00000182902|transcript|ENST00000327451|protein_coding|8/11|c.523C>T|p.Arg175Cys|1061/2244|523/948|175/315||,T|missense_variant|MODERATE|SLC25A18|ENSG00000182902|transcript|ENST00000399813|protein_coding|7/10|c.523C>T|p.Arg175Cys|987/2057|523/948|175/315||,T|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_2|ENST00000399813|protein_coding|7/10|c.523C>T||||||,T|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_2|ENST00000399813|protein_coding|6/10|c.523C>T||||||,T|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_2|ENST00000399813|protein_coding|8/10|c.523C>T||||||,T|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000253413|protein_coding||c.*864G>A|||||4887|,T|downstream_gene_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000497401|processed_transcript||n.*845C>T|||||3765|,T|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399796|protein_coding||c.*703G>A|||||4920|,T|intron_variant|MODIFIER|AC004019.13|ENSG00000236754|transcript|ENST00000443935|antisense|1/3|n.1326+618G>A|||||| 22 18070022 . A G . . ANN=G|missense_variant|MODERATE|SLC25A18|ENSG00000182902|transcript|ENST00000327451|protein_coding|8/11|c.530A>G|p.Gln177Arg|1068/2244|530/948|177/315||,G|missense_variant|MODERATE|SLC25A18|ENSG00000182902|transcript|ENST00000399813|protein_coding|7/10|c.530A>G|p.Gln177Arg|994/2057|530/948|177/315||,G|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_2|ENST00000399813|protein_coding|7/10|c.530A>G||||||,G|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_2|ENST00000399813|protein_coding|6/10|c.530A>G||||||,G|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_2|ENST00000399813|protein_coding|8/10|c.530A>G||||||,G|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000253413|protein_coding||c.*864T>C|||||4880|,G|downstream_gene_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000497401|processed_transcript||n.*845A>G|||||3772|,G|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399796|protein_coding||c.*703T>C|||||4913|,G|intron_variant|MODIFIER|AC004019.13|ENSG00000236754|transcript|ENST00000443935|antisense|1/3|n.1326+611T>C|||||| 22 18070103 . C T . . ANN=T|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_2|ENST00000399813|protein_coding|7/10|c.575+36C>T||||||,T|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_2|ENST00000399813|protein_coding|6/10|c.575+36C>T||||||,T|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_2|ENST00000399813|protein_coding|8/10|c.575+36C>T||||||,T|sequence_feature|LOW|SLC25A18|ENSG00000182902|transmembrane_region:Transmembrane_region|ENST00000399813|protein_coding|7/10|c.575+36C>T||||||,T|sequence_feature|LOW|SLC25A18|ENSG00000182902|transmembrane_region:Transmembrane_region|ENST00000399813|protein_coding|8/10|c.575+36C>T||||||,T|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000253413|protein_coding||c.*864G>A|||||4799|,T|downstream_gene_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000497401|processed_transcript||n.*845C>T|||||3853|,T|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399796|protein_coding||c.*703G>A|||||4832|,T|intron_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000327451|protein_coding|8/10|c.575+36C>T||||||,T|intron_variant|MODIFIER|AC004019.13|ENSG00000236754|transcript|ENST00000443935|antisense|1/3|n.1326+530G>A||||||,T|intron_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000399813|protein_coding|7/9|c.575+36C>T|||||| 22 18070743 . C T . . ANN=T|synonymous_variant|LOW|SLC25A18|ENSG00000182902|transcript|ENST00000327451|protein_coding|9/11|c.628C>T|p.Leu210Leu|1166/2244|628/948|210/315||,T|synonymous_variant|LOW|SLC25A18|ENSG00000182902|transcript|ENST00000399813|protein_coding|8/10|c.628C>T|p.Leu210Leu|1092/2057|628/948|210/315||,T|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_2|ENST00000399813|protein_coding|7/10|c.628C>T||||||,T|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_2|ENST00000399813|protein_coding|6/10|c.628C>T||||||,T|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_2|ENST00000399813|protein_coding|8/10|c.628C>T||||||,T|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000253413|protein_coding||c.*864G>A|||||4159|,T|downstream_gene_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000497401|processed_transcript||n.*845C>T|||||4493|,T|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399796|protein_coding||c.*703G>A|||||4192|,T|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399798|protein_coding||c.*729G>A|||||4432|,T|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000473248|retained_intron||n.*832G>A|||||4692|,T|non_coding_exon_variant|MODIFIER|AC004019.13|ENSG00000236754|transcript|ENST00000443935|antisense|1/4|n.1216G>A|||||| 22 18070748 . G A . . ANN=A|synonymous_variant|LOW|SLC25A18|ENSG00000182902|transcript|ENST00000327451|protein_coding|9/11|c.633G>A|p.Gly211Gly|1171/2244|633/948|211/315||,A|synonymous_variant|LOW|SLC25A18|ENSG00000182902|transcript|ENST00000399813|protein_coding|8/10|c.633G>A|p.Gly211Gly|1097/2057|633/948|211/315||,A|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000253413|protein_coding||c.*864C>T|||||4154|,A|downstream_gene_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000497401|processed_transcript||n.*845G>A|||||4498|,A|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399796|protein_coding||c.*703C>T|||||4187|,A|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399798|protein_coding||c.*729C>T|||||4427|,A|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000473248|retained_intron||n.*832C>T|||||4687|,A|non_coding_exon_variant|MODIFIER|AC004019.13|ENSG00000236754|transcript|ENST00000443935|antisense|1/4|n.1211C>T|||||| 22 18070763 . C T . . ANN=T|synonymous_variant|LOW|SLC25A18|ENSG00000182902|transcript|ENST00000327451|protein_coding|9/11|c.648C>T|p.Ala216Ala|1186/2244|648/948|216/315||,T|synonymous_variant|LOW|SLC25A18|ENSG00000182902|transcript|ENST00000399813|protein_coding|8/10|c.648C>T|p.Ala216Ala|1112/2057|648/948|216/315||,T|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000253413|protein_coding||c.*864G>A|||||4139|,T|downstream_gene_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000497401|processed_transcript||n.*845C>T|||||4513|,T|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399796|protein_coding||c.*703G>A|||||4172|,T|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399798|protein_coding||c.*729G>A|||||4412|,T|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000473248|retained_intron||n.*832G>A|||||4672|,T|non_coding_exon_variant|MODIFIER|AC004019.13|ENSG00000236754|transcript|ENST00000443935|antisense|1/4|n.1196G>A|||||| 22 18070872 . C T . . ANN=T|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_3|ENST00000399813|protein_coding|10/10|c.730+27C>T||||||,T|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_3|ENST00000399813|protein_coding|8/10|c.730+27C>T||||||,T|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_3|ENST00000399813|protein_coding|9/10|c.730+27C>T||||||,T|sequence_feature|LOW|SLC25A18|ENSG00000182902|transmembrane_region:Transmembrane_region|ENST00000399813|protein_coding|8/10|c.730+27C>T||||||,T|sequence_feature|LOW|SLC25A18|ENSG00000182902|transmembrane_region:Transmembrane_region|ENST00000399813|protein_coding|9/10|c.730+27C>T||||||,T|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000253413|protein_coding||c.*864G>A|||||4030|,T|downstream_gene_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000497401|processed_transcript||n.*845C>T|||||4622|,T|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399796|protein_coding||c.*703G>A|||||4063|,T|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399798|protein_coding||c.*729G>A|||||4303|,T|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000473248|retained_intron||n.*832G>A|||||4563|,T|intron_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000327451|protein_coding|9/10|c.730+27C>T||||||,T|intron_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000399813|protein_coding|8/9|c.730+27C>T||||||,T|non_coding_exon_variant|MODIFIER|AC004019.13|ENSG00000236754|transcript|ENST00000443935|antisense|1/4|n.1087G>A|||||| 22 18072311 . G GAT . . ANN=AT|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_3|ENST00000399813|protein_coding|10/10|c.731-45_731-44insAT||||||,AT|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_3|ENST00000399813|protein_coding|8/10|c.731-45_731-44insAT||||||,AT|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_3|ENST00000399813|protein_coding|9/10|c.731-45_731-44insAT||||||,AT|sequence_feature|LOW|SLC25A18|ENSG00000182902|transmembrane_region:Transmembrane_region|ENST00000399813|protein_coding|8/10|c.731-45_731-44insAT||||||,AT|sequence_feature|LOW|SLC25A18|ENSG00000182902|transmembrane_region:Transmembrane_region|ENST00000399813|protein_coding|9/10|c.731-45_731-44insAT||||||,AT|upstream_gene_variant|MODIFIER|AC004019.13|ENSG00000236754|transcript|ENST00000443935|antisense||n.-1_-1insAT|||||354|,AT|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000253413|protein_coding||c.*864_*864insAT|||||2590|,AT|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399796|protein_coding||c.*703_*703insAT|||||2623|,AT|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399798|protein_coding||c.*729_*729insAT|||||2863|,AT|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000473248|retained_intron||n.*832_*832insAT|||||3123|,AT|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000413576|protein_coding||c.*800_*800insAT|||||4993|WARNING_TRANSCRIPT_INCOMPLETE,TA|intron_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000327451|protein_coding|9/10|c.731-44_731-43insTA||||||INFO_REALIGN_3_PRIME,TA|intron_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000399813|protein_coding|8/9|c.731-44_731-43insTA||||||INFO_REALIGN_3_PRIME 22 18072317 . A C . . ANN=C|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_3|ENST00000399813|protein_coding|10/10|c.731-39A>C||||||,C|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_3|ENST00000399813|protein_coding|8/10|c.731-39A>C||||||,C|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_3|ENST00000399813|protein_coding|9/10|c.731-39A>C||||||,C|sequence_feature|LOW|SLC25A18|ENSG00000182902|transmembrane_region:Transmembrane_region|ENST00000399813|protein_coding|8/10|c.731-39A>C||||||,C|sequence_feature|LOW|SLC25A18|ENSG00000182902|transmembrane_region:Transmembrane_region|ENST00000399813|protein_coding|9/10|c.731-39A>C||||||,C|upstream_gene_variant|MODIFIER|AC004019.13|ENSG00000236754|transcript|ENST00000443935|antisense||n.-1T>G|||||359|,C|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000253413|protein_coding||c.*864T>G|||||2585|,C|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399796|protein_coding||c.*703T>G|||||2618|,C|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399798|protein_coding||c.*729T>G|||||2858|,C|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000473248|retained_intron||n.*832T>G|||||3118|,C|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000413576|protein_coding||c.*800T>G|||||4988|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000327451|protein_coding|9/10|c.731-39A>C||||||,C|intron_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000399813|protein_coding|8/9|c.731-39A>C|||||| 22 18072333 . A ACTT . . ANN=CTT|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_3|ENST00000399813|protein_coding|10/10|c.731-23_731-22insCTT||||||,CTT|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_3|ENST00000399813|protein_coding|8/10|c.731-23_731-22insCTT||||||,CTT|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_3|ENST00000399813|protein_coding|9/10|c.731-23_731-22insCTT||||||,CTT|sequence_feature|LOW|SLC25A18|ENSG00000182902|transmembrane_region:Transmembrane_region|ENST00000399813|protein_coding|8/10|c.731-23_731-22insCTT||||||,CTT|sequence_feature|LOW|SLC25A18|ENSG00000182902|transmembrane_region:Transmembrane_region|ENST00000399813|protein_coding|9/10|c.731-23_731-22insCTT||||||,CTT|upstream_gene_variant|MODIFIER|AC004019.13|ENSG00000236754|transcript|ENST00000443935|antisense||n.-1_-1dupAAG|||||376|,CTT|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000253413|protein_coding||c.*864_*864dupAAG|||||2568|,CTT|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399796|protein_coding||c.*703_*703dupAAG|||||2601|,CTT|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399798|protein_coding||c.*729_*729dupAAG|||||2841|,CTT|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000473248|retained_intron||n.*832_*832dupAAG|||||3101|,CTT|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000413576|protein_coding||c.*800_*800dupAAG|||||4971|WARNING_TRANSCRIPT_INCOMPLETE,CTT|intron_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000327451|protein_coding|9/10|c.731-22_731-20dupCTT||||||INFO_REALIGN_3_PRIME,CTT|intron_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000399813|protein_coding|8/9|c.731-22_731-20dupCTT||||||INFO_REALIGN_3_PRIME 22 18072346 . C T . . ANN=T|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_3|ENST00000399813|protein_coding|10/10|c.731-10C>T||||||,T|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_3|ENST00000399813|protein_coding|8/10|c.731-10C>T||||||,T|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_3|ENST00000399813|protein_coding|9/10|c.731-10C>T||||||,T|sequence_feature|LOW|SLC25A18|ENSG00000182902|transmembrane_region:Transmembrane_region|ENST00000399813|protein_coding|8/10|c.731-10C>T||||||,T|sequence_feature|LOW|SLC25A18|ENSG00000182902|transmembrane_region:Transmembrane_region|ENST00000399813|protein_coding|9/10|c.731-10C>T||||||,T|upstream_gene_variant|MODIFIER|AC004019.13|ENSG00000236754|transcript|ENST00000443935|antisense||n.-1G>A|||||388|,T|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000253413|protein_coding||c.*864G>A|||||2556|,T|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399796|protein_coding||c.*703G>A|||||2589|,T|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399798|protein_coding||c.*729G>A|||||2829|,T|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000473248|retained_intron||n.*832G>A|||||3089|,T|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000413576|protein_coding||c.*800G>A|||||4959|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000327451|protein_coding|9/10|c.731-10C>T||||||,T|intron_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000399813|protein_coding|8/9|c.731-10C>T|||||| 22 18072464 . G T . . ANN=T|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_3|ENST00000399813|protein_coding|10/10|c.806+33G>T||||||,T|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_3|ENST00000399813|protein_coding|8/10|c.806+33G>T||||||,T|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_3|ENST00000399813|protein_coding|9/10|c.806+33G>T||||||,T|upstream_gene_variant|MODIFIER|AC004019.13|ENSG00000236754|transcript|ENST00000443935|antisense||n.-1C>A|||||506|,T|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000253413|protein_coding||c.*864C>A|||||2438|,T|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399796|protein_coding||c.*703C>A|||||2471|,T|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399798|protein_coding||c.*729C>A|||||2711|,T|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000473248|retained_intron||n.*832C>A|||||2971|,T|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000413576|protein_coding||c.*800C>A|||||4841|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000327451|protein_coding|10/10|c.806+33G>T||||||,T|intron_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000399813|protein_coding|9/9|c.806+33G>T|||||| 22 18072986 . T TA . . ANN=A|frameshift_variant|HIGH|SLC25A18|ENSG00000182902|transcript|ENST00000327451|protein_coding|11/11|c.935dupA|p.Cys313fs|1474/2244|936/948|312/315||INFO_REALIGN_3_PRIME,A|frameshift_variant|HIGH|SLC25A18|ENSG00000182902|transcript|ENST00000399813|protein_coding|10/10|c.935dupA|p.Cys313fs|1400/2057|936/948|312/315||INFO_REALIGN_3_PRIME,A|upstream_gene_variant|MODIFIER|AC004019.13|ENSG00000236754|transcript|ENST00000443935|antisense||n.-1dupT|||||1029|,A|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000253413|protein_coding||c.*864dupT|||||1915|,A|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399796|protein_coding||c.*703dupT|||||1948|,A|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399798|protein_coding||c.*729dupT|||||2188|,A|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000473248|retained_intron||n.*832dupT|||||2448|,A|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000413576|protein_coding||c.*800dupT|||||4318|WARNING_TRANSCRIPT_INCOMPLETE 22 18073013 . A C . . ANN=C|3_prime_UTR_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000327451|protein_coding|11/11|c.*11A>C|||||11|,C|3_prime_UTR_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000399813|protein_coding|10/10|c.*11A>C|||||11|,C|upstream_gene_variant|MODIFIER|AC004019.13|ENSG00000236754|transcript|ENST00000443935|antisense||n.-1T>G|||||1055|,C|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000253413|protein_coding||c.*864T>G|||||1889|,C|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399796|protein_coding||c.*703T>G|||||1922|,C|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399798|protein_coding||c.*729T>G|||||2162|,C|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000473248|retained_intron||n.*832T>G|||||2422|,C|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000413576|protein_coding||c.*800T>G|||||4292|WARNING_TRANSCRIPT_INCOMPLETE 22 18073027 . C A . . ANN=A|3_prime_UTR_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000327451|protein_coding|11/11|c.*25C>A|||||25|,A|3_prime_UTR_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000399813|protein_coding|10/10|c.*25C>A|||||25|,A|upstream_gene_variant|MODIFIER|AC004019.13|ENSG00000236754|transcript|ENST00000443935|antisense||n.-1G>T|||||1069|,A|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000253413|protein_coding||c.*864G>T|||||1875|,A|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399796|protein_coding||c.*703G>T|||||1908|,A|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399798|protein_coding||c.*729G>T|||||2148|,A|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000473248|retained_intron||n.*832G>T|||||2408|,A|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000413576|protein_coding||c.*800G>T|||||4278|WARNING_TRANSCRIPT_INCOMPLETE 22 18073034 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000327451|protein_coding|11/11|c.*32C>T|||||32|,T|3_prime_UTR_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000399813|protein_coding|10/10|c.*32C>T|||||32|,T|upstream_gene_variant|MODIFIER|AC004019.13|ENSG00000236754|transcript|ENST00000443935|antisense||n.-1G>A|||||1076|,T|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000253413|protein_coding||c.*864G>A|||||1868|,T|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399796|protein_coding||c.*703G>A|||||1901|,T|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399798|protein_coding||c.*729G>A|||||2141|,T|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000473248|retained_intron||n.*832G>A|||||2401|,T|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000413576|protein_coding||c.*800G>A|||||4271|WARNING_TRANSCRIPT_INCOMPLETE 22 18073035 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000327451|protein_coding|11/11|c.*33G>A|||||33|,A|3_prime_UTR_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000399813|protein_coding|10/10|c.*33G>A|||||33|,A|upstream_gene_variant|MODIFIER|AC004019.13|ENSG00000236754|transcript|ENST00000443935|antisense||n.-1C>T|||||1077|,A|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000253413|protein_coding||c.*864C>T|||||1867|,A|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399796|protein_coding||c.*703C>T|||||1900|,A|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399798|protein_coding||c.*729C>T|||||2140|,A|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000473248|retained_intron||n.*832C>T|||||2400|,A|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000413576|protein_coding||c.*800C>T|||||4270|WARNING_TRANSCRIPT_INCOMPLETE 22 18073043 . T G . . ANN=G|3_prime_UTR_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000327451|protein_coding|11/11|c.*41T>G|||||41|,G|3_prime_UTR_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000399813|protein_coding|10/10|c.*41T>G|||||41|,G|upstream_gene_variant|MODIFIER|AC004019.13|ENSG00000236754|transcript|ENST00000443935|antisense||n.-1A>C|||||1085|,G|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000253413|protein_coding||c.*864A>C|||||1859|,G|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399796|protein_coding||c.*703A>C|||||1892|,G|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399798|protein_coding||c.*729A>C|||||2132|,G|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000473248|retained_intron||n.*832A>C|||||2392|,G|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000413576|protein_coding||c.*800A>C|||||4262|WARNING_TRANSCRIPT_INCOMPLETE 22 18075417 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000253413|protein_coding|9/9|c.*23C>T|||||23|,A|3_prime_UTR_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399796|protein_coding|8/8|c.*23C>T|||||23|,A|3_prime_UTR_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399798|protein_coding|8/8|c.*23C>T|||||23|,A|upstream_gene_variant|MODIFIER|AC004019.13|ENSG00000236754|transcript|ENST00000443935|antisense||n.-1C>T|||||3459|,A|downstream_gene_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000327451|protein_coding||c.*1486G>A|||||1657|,A|downstream_gene_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000399813|protein_coding||c.*1412G>A|||||1770|,A|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000473248|retained_intron||n.*832C>T|||||18|,A|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000413576|protein_coding||c.*800C>T|||||1888|WARNING_TRANSCRIPT_INCOMPLETE 22 18075532 . A G . . ANN=G|upstream_gene_variant|MODIFIER|AC004019.13|ENSG00000236754|transcript|ENST00000443935|antisense||n.-1T>C|||||3574|,G|downstream_gene_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000327451|protein_coding||c.*1486A>G|||||1772|,G|downstream_gene_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000399813|protein_coding||c.*1412A>G|||||1885|,G|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000413576|protein_coding||c.*800T>C|||||1773|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000253413|protein_coding|8/8|c.619-30T>C||||||,G|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399796|protein_coding|7/7|c.529-30T>C||||||,G|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399798|protein_coding|7/7|c.553-30T>C||||||,G|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000473248|retained_intron|1/1|n.765-30T>C|||||| 22 18077280 . T C . . ANN=C|downstream_gene_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000327451|protein_coding||c.*1486T>C|||||3520|,C|downstream_gene_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000399813|protein_coding||c.*1412T>C|||||3633|,C|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000413576|protein_coding||c.*800A>G|||||25|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000481365|retained_intron||n.*692A>G|||||3487|,C|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000253413|protein_coding|8/8|c.618+15A>G||||||,C|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399796|protein_coding|7/7|c.528+15A>G||||||,C|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399798|protein_coding|7/7|c.552+15A>G||||||,C|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000473248|retained_intron|1/1|n.764+15A>G|||||| 22 18077334 . G A . . ANN=A|synonymous_variant|LOW|ATP6V1E1|ENSG00000131100|transcript|ENST00000253413|protein_coding|8/9|c.579C>T|p.Ser193Ser|762/1402|579/681|193/226||,A|synonymous_variant|LOW|ATP6V1E1|ENSG00000131100|transcript|ENST00000399796|protein_coding|7/8|c.489C>T|p.Ser163Ser|601/1208|489/591|163/196||,A|synonymous_variant|LOW|ATP6V1E1|ENSG00000131100|transcript|ENST00000399798|protein_coding|7/8|c.513C>T|p.Ser171Ser|627/994|513/615|171/204||,A|synonymous_variant|LOW|ATP6V1E1|ENSG00000131100|transcript|ENST00000413576|protein_coding|9/9|c.582C>T|p.Ser194Ser|771/800|582/611|194/202||WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000327451|protein_coding||c.*1486G>A|||||3574|,A|downstream_gene_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000399813|protein_coding||c.*1412G>A|||||3687|,A|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000481365|retained_intron||n.*692C>T|||||3433|,A|non_coding_exon_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000473248|retained_intron|1/2|n.725C>T|||||| 22 18077386 . CA C . . ANN=|splice_region_variant&intron_variant|LOW|ATP6V1E1|ENSG00000131100|transcript|ENST00000253413|protein_coding|7/8|c.531-5delT||||||,|splice_region_variant&intron_variant|LOW|ATP6V1E1|ENSG00000131100|transcript|ENST00000399796|protein_coding|6/7|c.441-5delT||||||,|splice_region_variant&intron_variant|LOW|ATP6V1E1|ENSG00000131100|transcript|ENST00000399798|protein_coding|6/7|c.465-5delT||||||,|splice_region_variant&intron_variant|LOW|ATP6V1E1|ENSG00000131100|transcript|ENST00000413576|protein_coding|8/8|c.534-5delT||||||WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000327451|protein_coding||c.*1486delA|||||3627|,|downstream_gene_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000399813|protein_coding||c.*1412delA|||||3740|,|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000481365|retained_intron||n.*692delT|||||3380|,|non_coding_exon_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000473248|retained_intron|1/2|n.672delT|||||| 22 18080930 . G A . . ANN=A|upstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000473248|retained_intron||n.-1C>T|||||2872|,A|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000484653|retained_intron||n.*747C>T|||||2516|,A|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000253413|protein_coding|7/8|c.530+30C>T||||||,A|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399796|protein_coding|6/7|c.440+30C>T||||||,A|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399798|protein_coding|6/7|c.464+30C>T||||||,A|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000413576|protein_coding|8/8|c.533+30C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000481365|retained_intron|6/6|n.529C>T|||||| 22 18080962 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|ATP6V1E1|ENSG00000131100|transcript|ENST00000253413|protein_coding|7/9|c.528C>T|p.Asp176Asp|711/1402|528/681|176/226||,A|splice_region_variant&synonymous_variant|LOW|ATP6V1E1|ENSG00000131100|transcript|ENST00000399796|protein_coding|6/8|c.438C>T|p.Asp146Asp|550/1208|438/591|146/196||,A|splice_region_variant&synonymous_variant|LOW|ATP6V1E1|ENSG00000131100|transcript|ENST00000399798|protein_coding|6/8|c.462C>T|p.Asp154Asp|576/994|462/615|154/204||,A|splice_region_variant&synonymous_variant|LOW|ATP6V1E1|ENSG00000131100|transcript|ENST00000413576|protein_coding|8/9|c.531C>T|p.Asp177Asp|720/800|531/611|177/202||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000473248|retained_intron||n.-1C>T|||||2904|,A|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000484653|retained_intron||n.*747C>T|||||2484|,A|non_coding_exon_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000481365|retained_intron|6/6|n.497C>T|||||| 22 18081046 . C G . . ANN=G|synonymous_variant|LOW|ATP6V1E1|ENSG00000131100|transcript|ENST00000253413|protein_coding|7/9|c.444G>C|p.Val148Val|627/1402|444/681|148/226||,G|synonymous_variant|LOW|ATP6V1E1|ENSG00000131100|transcript|ENST00000399796|protein_coding|6/8|c.354G>C|p.Val118Val|466/1208|354/591|118/196||,G|synonymous_variant|LOW|ATP6V1E1|ENSG00000131100|transcript|ENST00000399798|protein_coding|6/8|c.378G>C|p.Val126Val|492/994|378/615|126/204||,G|synonymous_variant|LOW|ATP6V1E1|ENSG00000131100|transcript|ENST00000413576|protein_coding|8/9|c.447G>C|p.Val149Val|636/800|447/611|149/202||WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000473248|retained_intron||n.-1G>C|||||2988|,G|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000484653|retained_intron||n.*747G>C|||||2400|,G|non_coding_exon_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000481365|retained_intron|6/6|n.413G>C|||||| 22 18081074 . TGA T . . ANN=|upstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000473248|retained_intron||n.-1_-1delTC|||||3017|,|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000484653|retained_intron||n.*747_*747delTC|||||2371|,|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000253413|protein_coding|6/8|c.436-22_436-21delTC||||||,|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399796|protein_coding|5/7|c.346-22_346-21delTC||||||,|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399798|protein_coding|5/7|c.370-22_370-21delTC||||||,|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000413576|protein_coding|7/8|c.439-22_439-21delTC||||||WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000481365|retained_intron|5/5|n.405-22_405-21delTC|||||| 22 18081090 . G GAAATATGAAGC . . ANN=AAATATGAAGC|upstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000473248|retained_intron||n.-1_-1insGCTTCATATTT|||||3033|,AAATATGAAGC|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000484653|retained_intron||n.*747_*747insGCTTCATATTT|||||2355|,AAATATGAAGC|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000253413|protein_coding|6/8|c.436-37_436-36insGCTTCATATTT||||||,AAATATGAAGC|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399796|protein_coding|5/7|c.346-37_346-36insGCTTCATATTT||||||,AAATATGAAGC|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399798|protein_coding|5/7|c.370-37_370-36insGCTTCATATTT||||||,AAATATGAAGC|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000413576|protein_coding|7/8|c.439-37_439-36insGCTTCATATTT||||||WARNING_TRANSCRIPT_INCOMPLETE,AAATATGAAGC|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000481365|retained_intron|5/5|n.405-37_405-36insGCTTCATATTT|||||| 22 18081093 . C A . . ANN=A|upstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000473248|retained_intron||n.-1G>T|||||3035|,A|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000484653|retained_intron||n.*747G>T|||||2353|,A|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000253413|protein_coding|6/8|c.436-39G>T||||||,A|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399796|protein_coding|5/7|c.346-39G>T||||||,A|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399798|protein_coding|5/7|c.370-39G>T||||||,A|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000413576|protein_coding|7/8|c.439-39G>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000481365|retained_intron|5/5|n.405-39G>T|||||| 22 18081096 . T C . . ANN=C|upstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000473248|retained_intron||n.-1A>G|||||3038|,C|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000484653|retained_intron||n.*747A>G|||||2350|,C|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000253413|protein_coding|6/8|c.436-42A>G||||||,C|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399796|protein_coding|5/7|c.346-42A>G||||||,C|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399798|protein_coding|5/7|c.370-42A>G||||||,C|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000413576|protein_coding|7/8|c.439-42A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000481365|retained_intron|5/5|n.405-42A>G|||||| 22 18081099 . A G . . ANN=G|upstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000473248|retained_intron||n.-1T>C|||||3041|,G|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000484653|retained_intron||n.*747T>C|||||2347|,G|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000253413|protein_coding|6/8|c.436-45T>C||||||,G|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399796|protein_coding|5/7|c.346-45T>C||||||,G|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399798|protein_coding|5/7|c.370-45T>C||||||,G|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000413576|protein_coding|7/8|c.439-45T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000481365|retained_intron|5/5|n.405-45T>C|||||| 22 18082784 . G A . . ANN=A|upstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000473248|retained_intron||n.-1C>T|||||4726|,A|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000484653|retained_intron||n.*747C>T|||||662|,A|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000253413|protein_coding|6/8|c.435+9C>T||||||,A|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399796|protein_coding|5/7|c.345+9C>T||||||,A|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399798|protein_coding|5/7|c.369+9C>T||||||,A|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000413576|protein_coding|7/8|c.438+9C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000481365|retained_intron|5/5|n.404+9C>T|||||| 22 18082836 . C T . . ANN=T|missense_variant|MODERATE|ATP6V1E1|ENSG00000131100|transcript|ENST00000253413|protein_coding|6/9|c.392G>A|p.Arg131Gln|575/1402|392/681|131/226||,T|missense_variant|MODERATE|ATP6V1E1|ENSG00000131100|transcript|ENST00000399796|protein_coding|5/8|c.302G>A|p.Arg101Gln|414/1208|302/591|101/196||,T|missense_variant|MODERATE|ATP6V1E1|ENSG00000131100|transcript|ENST00000399798|protein_coding|5/8|c.326G>A|p.Arg109Gln|440/994|326/615|109/204||,T|missense_variant|MODERATE|ATP6V1E1|ENSG00000131100|transcript|ENST00000413576|protein_coding|7/9|c.395G>A|p.Arg132Gln|584/800|395/611|132/202||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000473248|retained_intron||n.-1G>A|||||4778|,T|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000484653|retained_intron||n.*747G>A|||||610|,T|non_coding_exon_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000481365|retained_intron|5/6|n.361G>A|||||| 22 18082872 . TA T . . ANN=|upstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000473248|retained_intron||n.-1delT|||||4815|,|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000484653|retained_intron||n.*747delT|||||573|,|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000253413|protein_coding|5/8|c.367-12delT||||||,|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399796|protein_coding|4/7|c.277-12delT||||||,|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399798|protein_coding|4/7|c.301-12delT||||||,|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000413576|protein_coding|6/8|c.370-12delT||||||WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000481365|retained_intron|4/5|n.336-12delT|||||| 22 18082898 . A C . . ANN=C|upstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000473248|retained_intron||n.-1T>G|||||4840|,C|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000484653|retained_intron||n.*747T>G|||||548|,C|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000253413|protein_coding|5/8|c.367-37T>G||||||,C|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399796|protein_coding|4/7|c.277-37T>G||||||,C|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399798|protein_coding|4/7|c.301-37T>G||||||,C|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000413576|protein_coding|6/8|c.370-37T>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000481365|retained_intron|4/5|n.336-37T>G|||||| 22 18083979 . A G . . ANN=G|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000253413|protein_coding|4/8|c.277-32T>C||||||,G|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399796|protein_coding|4/7|c.277-1118T>C||||||,G|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399798|protein_coding|3/7|c.211-32T>C||||||,G|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000413576|protein_coding|5/8|c.280-32T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000481365|retained_intron|3/5|n.246-32T>C||||||,G|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000484653|retained_intron|3/3|n.246-32T>C|||||| 22 18095609 . T C . . ANN=C|missense_variant|MODERATE|ATP6V1E1|ENSG00000131100|transcript|ENST00000253413|protein_coding|4/9|c.245A>G|p.Lys82Arg|428/1402|245/681|82/226||,C|missense_variant|MODERATE|ATP6V1E1|ENSG00000131100|transcript|ENST00000399796|protein_coding|4/8|c.245A>G|p.Lys82Arg|357/1208|245/591|82/196||,C|missense_variant|MODERATE|ATP6V1E1|ENSG00000131100|transcript|ENST00000399798|protein_coding|3/8|c.179A>G|p.Lys60Arg|293/994|179/615|60/204||,C|missense_variant|MODERATE|ATP6V1E1|ENSG00000131100|transcript|ENST00000413576|protein_coding|5/9|c.248A>G|p.Lys83Arg|437/800|248/611|83/202||WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000460085|processed_transcript||n.*558A>G|||||133|,C|non_coding_exon_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000481365|retained_intron|3/6|n.214A>G||||||,C|non_coding_exon_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000484653|retained_intron|3/4|n.214A>G||||||,C|non_coding_exon_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000478963|processed_transcript|4/4|n.358A>G|||||| 22 18095617 . C T . . ANN=T|synonymous_variant|LOW|ATP6V1E1|ENSG00000131100|transcript|ENST00000253413|protein_coding|4/9|c.237G>A|p.Ala79Ala|420/1402|237/681|79/226||,T|synonymous_variant|LOW|ATP6V1E1|ENSG00000131100|transcript|ENST00000399796|protein_coding|4/8|c.237G>A|p.Ala79Ala|349/1208|237/591|79/196||,T|synonymous_variant|LOW|ATP6V1E1|ENSG00000131100|transcript|ENST00000399798|protein_coding|3/8|c.171G>A|p.Ala57Ala|285/994|171/615|57/204||,T|synonymous_variant|LOW|ATP6V1E1|ENSG00000131100|transcript|ENST00000413576|protein_coding|5/9|c.240G>A|p.Ala80Ala|429/800|240/611|80/202||WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000460085|processed_transcript||n.*558G>A|||||125|,T|non_coding_exon_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000481365|retained_intron|3/6|n.206G>A||||||,T|non_coding_exon_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000484653|retained_intron|3/4|n.206G>A||||||,T|non_coding_exon_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000478963|processed_transcript|4/4|n.350G>A|||||| 22 18095957 . T G . . ANN=G|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000253413|protein_coding|3/8|c.209+20A>C||||||,G|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399796|protein_coding|3/7|c.209+20A>C||||||,G|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399798|protein_coding|2/7|c.143+20A>C||||||,G|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000413576|protein_coding|4/8|c.212+20A>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000481365|retained_intron|2/5|n.178+20A>C||||||,G|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000484653|retained_intron|2/3|n.178+20A>C||||||,G|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000478963|processed_transcript|3/3|n.322+20A>C||||||,G|non_coding_exon_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000460085|processed_transcript|3/3|n.343A>C|||||| 22 18095994 . A T . . ANN=T|synonymous_variant|LOW|ATP6V1E1|ENSG00000131100|transcript|ENST00000253413|protein_coding|3/9|c.192T>A|p.Ile64Ile|375/1402|192/681|64/226||,T|synonymous_variant|LOW|ATP6V1E1|ENSG00000131100|transcript|ENST00000399796|protein_coding|3/8|c.192T>A|p.Ile64Ile|304/1208|192/591|64/196||,T|synonymous_variant|LOW|ATP6V1E1|ENSG00000131100|transcript|ENST00000399798|protein_coding|2/8|c.126T>A|p.Ile42Ile|240/994|126/615|42/204||,T|synonymous_variant|LOW|ATP6V1E1|ENSG00000131100|transcript|ENST00000413576|protein_coding|4/9|c.195T>A|p.Ile65Ile|384/800|195/611|65/202||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000481365|retained_intron|2/6|n.161T>A||||||,T|non_coding_exon_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000484653|retained_intron|2/4|n.161T>A||||||,T|non_coding_exon_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000478963|processed_transcript|3/4|n.305T>A||||||,T|non_coding_exon_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000460085|processed_transcript|3/3|n.306T>A|||||| 22 18102311 . T G . . ANN=G|upstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000481365|retained_intron||n.-1A>C|||||17|,G|upstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000484653|retained_intron||n.-1A>C|||||17|,G|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000253413|protein_coding|1/8|c.34-19A>C||||||,G|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399796|protein_coding|1/7|c.34-19A>C||||||,G|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399798|protein_coding|1/7|c.34-6225A>C||||||,G|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000413576|protein_coding|1/8|c.-58-19A>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000478963|processed_transcript|1/3|n.147-19A>C||||||,G|intron_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000460085|processed_transcript|1/2|n.148-19A>C|||||| 22 18111431 . T C . . ANN=C|5_prime_UTR_premature_start_codon_gain_variant|LOW|ATP6V1E1|ENSG00000131100|transcript|ENST00000253413|protein_coding|1/9|c.-30A>G||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|ATP6V1E1|ENSG00000131100|transcript|ENST00000399796|protein_coding|1/8|c.-30A>G||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|ATP6V1E1|ENSG00000131100|transcript|ENST00000399798|protein_coding|1/8|c.-30A>G||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|ATP6V1E1|ENSG00000131100|transcript|ENST00000413576|protein_coding|1/9|c.-121A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|5_prime_UTR_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000253413|protein_coding|1/9|c.-30A>G|||||30|,C|5_prime_UTR_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399796|protein_coding|1/8|c.-30A>G|||||30|,C|5_prime_UTR_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399798|protein_coding|1/8|c.-30A>G|||||30|,C|5_prime_UTR_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000413576|protein_coding|1/9|c.-121A>G|||||9197|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399781|processed_transcript||n.-1T>C|||||190|,C|upstream_gene_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399782|protein_coding||c.-740T>C|||||251|,C|non_coding_exon_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000478963|processed_transcript|1/4|n.84A>G||||||,C|non_coding_exon_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000460085|processed_transcript|1/3|n.85A>G|||||| 22 18111436 . T C . . ANN=C|5_prime_UTR_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000253413|protein_coding|1/9|c.-35A>G|||||35|,C|5_prime_UTR_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399796|protein_coding|1/8|c.-35A>G|||||35|,C|5_prime_UTR_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399798|protein_coding|1/8|c.-35A>G|||||35|,C|5_prime_UTR_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000413576|protein_coding|1/9|c.-126A>G|||||9202|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399781|processed_transcript||n.-1T>C|||||185|,C|upstream_gene_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399782|protein_coding||c.-740T>C|||||246|,C|non_coding_exon_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000478963|processed_transcript|1/4|n.79A>G||||||,C|non_coding_exon_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000460085|processed_transcript|1/3|n.80A>G|||||| 22 18111441 . T C . . ANN=C|5_prime_UTR_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000253413|protein_coding|1/9|c.-40A>G|||||40|,C|5_prime_UTR_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399796|protein_coding|1/8|c.-40A>G|||||40|,C|5_prime_UTR_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399798|protein_coding|1/8|c.-40A>G|||||40|,C|5_prime_UTR_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000413576|protein_coding|1/9|c.-131A>G|||||9207|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399781|processed_transcript||n.-1T>C|||||180|,C|upstream_gene_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399782|protein_coding||c.-740T>C|||||241|,C|non_coding_exon_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000478963|processed_transcript|1/4|n.74A>G||||||,C|non_coding_exon_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000460085|processed_transcript|1/3|n.75A>G|||||| 22 18138441 . A G . . ANN=G|5_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000317582|protein_coding|2/7|c.-37A>G|||||37|,G|5_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399782|protein_coding|3/7|c.-37A>G|||||37|,G|5_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|2/6|n.-37A>G|||||37|,G|5_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000543133|protein_coding|2/6|c.-366A>G|||||46598|,G|5_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000538149|protein_coding|2/4|c.-74A>G|||||74|,G|5_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000337612|protein_coding|2/5|c.-296A>G|||||46598|,G|5_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000493680|protein_coding|2/6|c.-37A>G|||||37|,G|5_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000355028|protein_coding|2/5|c.-37A>G|||||37|,G|upstream_gene_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000418951|protein_coding||c.-1A>G|||||37|,G|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000464649|processed_transcript|1/3|n.130+16789A>G||||||,G|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399781|processed_transcript|3/5|n.665A>G||||||,G|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|2/6|n.-37A>G|||||| 22 18165995 . T G . . ANN=G|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000317582|protein_coding|3/7|c.137T>G|p.Ile46Arg|484/2992|137/1458|46/485||,G|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000399782|protein_coding|4/7|c.137T>G|p.Ile46Arg|876/1381|137/606|46/201||,G|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000493680|protein_coding|3/6|c.137T>G|p.Ile46Arg|302/2112|137/606|46/201||,G|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000355028|protein_coding|3/5|c.137T>G|p.Ile46Arg|263/4458|137/516|46/171||,G|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000418951|protein_coding|2/5|c.137T>G|p.Ile46Arg|137/1342|137/315|46/104||,G|5_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000543133|protein_coding|3/6|c.-193T>G|||||19044|,G|5_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000337612|protein_coding|3/5|c.-123T>G|||||19044|,G|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000538149|protein_coding|2/3|c.85-19014T>G||||||,G|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399781|processed_transcript|4/5|n.838T>G||||||,G|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|3/6|n.137T>G||||||,G|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000464649|processed_transcript|2/4|n.146T>G|||||| 22 18166021 . A G . . ANN=G|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000317582|protein_coding|3/7|c.163A>G|p.Ile55Val|510/2992|163/1458|55/485||,G|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000399782|protein_coding|4/7|c.163A>G|p.Ile55Val|902/1381|163/606|55/201||,G|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000493680|protein_coding|3/6|c.163A>G|p.Ile55Val|328/2112|163/606|55/201||,G|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000355028|protein_coding|3/5|c.163A>G|p.Ile55Val|289/4458|163/516|55/171||,G|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000418951|protein_coding|2/5|c.163A>G|p.Ile55Val|163/1342|163/315|55/104||,G|5_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000543133|protein_coding|3/6|c.-167A>G|||||19018|,G|5_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000337612|protein_coding|3/5|c.-97A>G|||||19018|,G|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000538149|protein_coding|2/3|c.85-18988A>G||||||,G|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399781|processed_transcript|4/5|n.864A>G||||||,G|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|3/6|n.163A>G||||||,G|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000464649|processed_transcript|2/4|n.172A>G|||||| 22 18171776 . G A . . ANN=A|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000317582|protein_coding|4/7|c.254G>A|p.Arg85His|601/2992|254/1458|85/485||,A|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000399782|protein_coding|5/7|c.254G>A|p.Arg85His|993/1381|254/606|85/201||,A|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000493680|protein_coding|4/6|c.254G>A|p.Arg85His|419/2112|254/606|85/201||,A|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000355028|protein_coding|4/5|c.254G>A|p.Arg85His|380/4458|254/516|85/171||,A|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000418951|protein_coding|4/5|c.*37G>A|||||4316|,A|upstream_gene_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399777|nonsense_mediated_decay||n.-2G>A|||||64|,A|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399781|processed_transcript|4/4|n.930+5689G>A||||||,A|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|3/5|n.229+5689G>A||||||,A|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000543133|protein_coding|3/5|c.-101+5689G>A||||||,A|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000538149|protein_coding|2/3|c.85-13233G>A||||||,A|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000337612|protein_coding|3/4|c.-31+5689G>A||||||,A|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000464649|processed_transcript|3/4|n.263G>A|||||| 22 18171840 . T C . . ANN=C|synonymous_variant|LOW|BCL2L13|ENSG00000099968|transcript|ENST00000317582|protein_coding|4/7|c.318T>C|p.His106His|665/2992|318/1458|106/485||,C|synonymous_variant|LOW|BCL2L13|ENSG00000099968|transcript|ENST00000399782|protein_coding|5/7|c.318T>C|p.His106His|1057/1381|318/606|106/201||,C|synonymous_variant|LOW|BCL2L13|ENSG00000099968|transcript|ENST00000493680|protein_coding|4/6|c.318T>C|p.His106His|483/2112|318/606|106/201||,C|synonymous_variant|LOW|BCL2L13|ENSG00000099968|transcript|ENST00000355028|protein_coding|4/5|c.318T>C|p.His106His|444/4458|318/516|106/171||,C|sequence_feature|LOW|BCL2L13|ENSG00000099968|short_sequence_motif:BH3|ENST00000317582|protein_coding|4/7|c.318T>C||||||,C|sequence_feature|LOW|BCL2L13|ENSG00000099968|short_sequence_motif:BH3|ENST00000399782|protein_coding|5/7|c.318T>C||||||,C|5_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399777|nonsense_mediated_decay|1/3|n.-1T>C|||||1|,C|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000418951|protein_coding|4/5|c.*101T>C|||||4380|,C|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399781|processed_transcript|4/4|n.930+5753T>C||||||,C|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|3/5|n.229+5753T>C||||||,C|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000543133|protein_coding|3/5|c.-101+5753T>C||||||,C|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000538149|protein_coding|2/3|c.85-13169T>C||||||,C|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000337612|protein_coding|3/4|c.-31+5753T>C||||||,C|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000464649|processed_transcript|3/4|n.327T>C||||||,C|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399777|nonsense_mediated_decay|1/3|n.-1T>C|||||| 22 18171842 . T G . . ANN=G|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000317582|protein_coding|4/7|c.320T>G|p.Leu107Arg|667/2992|320/1458|107/485||,G|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000399782|protein_coding|5/7|c.320T>G|p.Leu107Arg|1059/1381|320/606|107/201||,G|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000493680|protein_coding|4/6|c.320T>G|p.Leu107Arg|485/2112|320/606|107/201||,G|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000355028|protein_coding|4/5|c.320T>G|p.Leu107Arg|446/4458|320/516|107/171||,G|sequence_feature|LOW|BCL2L13|ENSG00000099968|short_sequence_motif:BH3|ENST00000317582|protein_coding|4/7|c.320T>G||||||,G|sequence_feature|LOW|BCL2L13|ENSG00000099968|short_sequence_motif:BH3|ENST00000399782|protein_coding|5/7|c.320T>G||||||,G|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000418951|protein_coding|4/5|c.*103T>G|||||4382|,G|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399781|processed_transcript|4/4|n.930+5755T>G||||||,G|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|3/5|n.229+5755T>G||||||,G|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000543133|protein_coding|3/5|c.-101+5755T>G||||||,G|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000538149|protein_coding|2/3|c.85-13167T>G||||||,G|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000337612|protein_coding|3/4|c.-31+5755T>G||||||,G|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000464649|processed_transcript|3/4|n.329T>G||||||,G|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399777|nonsense_mediated_decay|1/3|n.2T>G|||||| 22 18178859 . C T . . ANN=T|downstream_gene_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000464649|processed_transcript||n.*435C>T|||||3698|,T|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000317582|protein_coding|4/6|c.387-48C>T||||||,T|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399781|processed_transcript|4/4|n.931-48C>T||||||,T|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399782|protein_coding|5/6|c.387-48C>T||||||,T|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|3/5|n.230-48C>T||||||,T|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000543133|protein_coding|3/5|c.-100-48C>T||||||,T|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000538149|protein_coding|2/3|c.85-6150C>T||||||,T|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000337612|protein_coding|3/4|c.-30-6150C>T||||||,T|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000493680|protein_coding|4/5|c.387-48C>T||||||,T|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000355028|protein_coding|4/4|c.386+6951C>T||||||,T|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000418951|protein_coding|4/4|c.*169+6951C>T||||||,T|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399777|nonsense_mediated_decay|1/2|n.69-6150C>T||||||,T|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000479296|processed_transcript|1/2|n.356C>T|||||| 22 18178908 . C G . . ANN=G|missense_variant&splice_region_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000317582|protein_coding|5/7|c.388C>G|p.Pro130Ala|735/2992|388/1458|130/485||,G|missense_variant&splice_region_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000399782|protein_coding|6/7|c.388C>G|p.Pro130Ala|1127/1381|388/606|130/201||,G|missense_variant&splice_region_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000493680|protein_coding|5/6|c.388C>G|p.Pro130Ala|553/2112|388/606|130/201||,G|splice_region_variant&non_coding_exon_variant|LOW|BCL2L13|ENSG00000099968|transcript|ENST00000399781|processed_transcript|5/5|n.932C>G||||||,G|splice_region_variant&non_coding_exon_variant|LOW|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|4/6|n.231C>G||||||,G|splice_region_variant|LOW|BCL2L13|ENSG00000099968|transcript|ENST00000543133|protein_coding|4/6|c.-99C>G||||||,G|5_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000543133|protein_coding|4/6|c.-99C>G|||||6131|,G|downstream_gene_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000464649|processed_transcript||n.*435C>G|||||3747|,G|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000538149|protein_coding|2/3|c.85-6101C>G||||||,G|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000337612|protein_coding|3/4|c.-30-6101C>G||||||,G|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000355028|protein_coding|4/4|c.386+7000C>G||||||,G|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000418951|protein_coding|4/4|c.*169+7000C>G||||||,G|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399777|nonsense_mediated_decay|1/2|n.69-6101C>G||||||,G|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000479296|processed_transcript|1/2|n.405C>G|||||| 22 18178981 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|BCL2L13|ENSG00000099968|transcript|ENST00000317582|protein_coding|5/6|c.456+5C>T||||||,T|splice_region_variant&intron_variant|LOW|BCL2L13|ENSG00000099968|transcript|ENST00000399782|protein_coding|6/6|c.456+5C>T||||||,T|splice_region_variant&intron_variant|LOW|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|4/5|n.*62+5C>T||||||,T|splice_region_variant&intron_variant|LOW|BCL2L13|ENSG00000099968|transcript|ENST00000543133|protein_coding|4/5|c.-31+5C>T||||||,T|splice_region_variant&intron_variant|LOW|BCL2L13|ENSG00000099968|transcript|ENST00000493680|protein_coding|5/5|c.456+5C>T||||||,T|splice_region_variant&intron_variant|LOW|BCL2L13|ENSG00000099968|transcript|ENST00000479296|processed_transcript|1/1|n.473+5C>T||||||,T|sequence_feature|LOW|BCL2L13|ENSG00000099968|short_sequence_motif:BH1|ENST00000317582|protein_coding|5/7|c.456+5C>T||||||,T|sequence_feature|LOW|BCL2L13|ENSG00000099968|short_sequence_motif:BH1|ENST00000317582|protein_coding|6/7|c.456+5C>T||||||,T|sequence_feature|LOW|BCL2L13|ENSG00000099968|short_sequence_motif:BH1|ENST00000399782|protein_coding|6/7|c.456+5C>T||||||,T|sequence_feature|LOW|BCL2L13|ENSG00000099968|short_sequence_motif:BH1|ENST00000399782|protein_coding|7/7|c.456+5C>T||||||,T|downstream_gene_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399781|processed_transcript||n.*999C>T|||||6|,T|downstream_gene_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000464649|processed_transcript||n.*435C>T|||||3820|,T|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000538149|protein_coding|2/3|c.85-6028C>T||||||,T|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000337612|protein_coding|3/4|c.-30-6028C>T||||||,T|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000355028|protein_coding|4/4|c.386+7073C>T||||||,T|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000418951|protein_coding|4/4|c.*169+7073C>T||||||,T|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399777|nonsense_mediated_decay|1/2|n.69-6028C>T|||||| 22 18185038 . A G . . ANN=G|synonymous_variant|LOW|BCL2L13|ENSG00000099968|transcript|ENST00000317582|protein_coding|6/7|c.486A>G|p.Gln162Gln|833/2992|486/1458|162/485||,G|synonymous_variant|LOW|BCL2L13|ENSG00000099968|transcript|ENST00000399782|protein_coding|7/7|c.486A>G|p.Gln162Gln|1225/1381|486/606|162/201||,G|synonymous_variant|LOW|BCL2L13|ENSG00000099968|transcript|ENST00000538149|protein_coding|3/4|c.114A>G|p.Gln38Gln|331/1469|114/1086|38/361||,G|synonymous_variant|LOW|BCL2L13|ENSG00000099968|transcript|ENST00000493680|protein_coding|6/6|c.486A>G|p.Gln162Gln|651/2112|486/606|162/201||,G|5_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000543133|protein_coding|5/6|c.-1A>G|||||1|,G|5_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000337612|protein_coding|4/5|c.-1A>G|||||1|,G|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|5/6|n.*92A>G|||||6124|,G|upstream_gene_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000485631|processed_transcript||n.-1A>G|||||4438|,G|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000355028|protein_coding|4/4|c.386+13130A>G||||||,G|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000418951|protein_coding|4/4|c.*169+13130A>G||||||,G|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|5/6|n.*92A>G||||||,G|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399777|nonsense_mediated_decay|2/3|n.98A>G||||||,G|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000479296|processed_transcript|2/2|n.503A>G|||||| 22 18185118 . A G . . ANN=G|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000317582|protein_coding|6/7|c.566A>G|p.Tyr189Cys|913/2992|566/1458|189/485||,G|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000399782|protein_coding|7/7|c.566A>G|p.Tyr189Cys|1305/1381|566/606|189/201||,G|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000543133|protein_coding|5/6|c.80A>G|p.Tyr27Cys|605/2662|80/972|27/323||,G|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000538149|protein_coding|3/4|c.194A>G|p.Tyr65Cys|411/1469|194/1086|65/361||,G|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000337612|protein_coding|4/5|c.80A>G|p.Tyr27Cys|512/1532|80/972|27/323||,G|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000493680|protein_coding|6/6|c.566A>G|p.Tyr189Cys|731/2112|566/606|189/201||,G|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|5/6|n.*172A>G|||||6204|,G|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399777|nonsense_mediated_decay|2/3|n.*64A>G|||||64|,G|upstream_gene_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000485631|processed_transcript||n.-1A>G|||||4358|,G|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000355028|protein_coding|4/4|c.386+13210A>G||||||,G|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000418951|protein_coding|4/4|c.*169+13210A>G||||||,G|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|5/6|n.*172A>G||||||,G|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399777|nonsense_mediated_decay|2/3|n.*64A>G||||||,G|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000479296|processed_transcript|2/2|n.583A>G|||||| 22 18185123 . G T . . ANN=T|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000317582|protein_coding|6/7|c.571G>T|p.Ala191Ser|918/2992|571/1458|191/485||,T|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000399782|protein_coding|7/7|c.571G>T|p.Ala191Ser|1310/1381|571/606|191/201||,T|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000543133|protein_coding|5/6|c.85G>T|p.Ala29Ser|610/2662|85/972|29/323||,T|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000538149|protein_coding|3/4|c.199G>T|p.Ala67Ser|416/1469|199/1086|67/361||,T|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000337612|protein_coding|4/5|c.85G>T|p.Ala29Ser|517/1532|85/972|29/323||,T|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000493680|protein_coding|6/6|c.571G>T|p.Ala191Ser|736/2112|571/606|191/201||,T|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|5/6|n.*177G>T|||||6209|,T|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399777|nonsense_mediated_decay|2/3|n.*69G>T|||||69|,T|upstream_gene_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000485631|processed_transcript||n.-1G>T|||||4353|,T|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000355028|protein_coding|4/4|c.386+13215G>T||||||,T|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000418951|protein_coding|4/4|c.*169+13215G>T||||||,T|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|5/6|n.*177G>T||||||,T|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399777|nonsense_mediated_decay|2/3|n.*69G>T||||||,T|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000479296|processed_transcript|2/2|n.588G>T|||||| 22 18185166 . T A . . ANN=A|sequence_feature|LOW|BCL2L13|ENSG00000099968|short_sequence_motif:BH2|ENST00000317582|protein_coding|7/7|c.600+14T>A||||||,A|sequence_feature|LOW|BCL2L13|ENSG00000099968|short_sequence_motif:BH2|ENST00000317582|protein_coding|6/7|c.600+14T>A||||||,A|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399782|protein_coding|7/7|c.*8T>A|||||8|,A|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000493680|protein_coding|6/6|c.*8T>A|||||8|,A|upstream_gene_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000485631|processed_transcript||n.-1T>A|||||4310|,A|downstream_gene_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000479296|processed_transcript||n.*594T>A|||||37|,A|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000317582|protein_coding|6/6|c.600+14T>A||||||,A|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|5/5|n.*206+14T>A||||||,A|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000543133|protein_coding|5/5|c.114+14T>A||||||,A|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000538149|protein_coding|3/3|c.228+14T>A||||||,A|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000337612|protein_coding|4/4|c.114+14T>A||||||,A|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000355028|protein_coding|4/4|c.386+13258T>A||||||,A|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000418951|protein_coding|4/4|c.*169+13258T>A||||||,A|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399777|nonsense_mediated_decay|2/2|n.*98+14T>A|||||| 22 18209496 . A G . . ANN=G|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000355028|protein_coding|5/5|c.440A>G|p.Gln147Arg|566/4458|440/516|147/171||,G|synonymous_variant|LOW|BCL2L13|ENSG00000099968|transcript|ENST00000317582|protein_coding|7/7|c.654A>G|p.Ala218Ala|1001/2992|654/1458|218/485||,G|synonymous_variant|LOW|BCL2L13|ENSG00000099968|transcript|ENST00000543133|protein_coding|6/6|c.168A>G|p.Ala56Ala|693/2662|168/972|56/323||,G|synonymous_variant|LOW|BCL2L13|ENSG00000099968|transcript|ENST00000538149|protein_coding|4/4|c.282A>G|p.Ala94Ala|499/1469|282/1086|94/361||,G|synonymous_variant|LOW|BCL2L13|ENSG00000099968|transcript|ENST00000337612|protein_coding|5/5|c.168A>G|p.Ala56Ala|600/1532|168/972|56/323||,G|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|6/6|n.*260A>G|||||30582|,G|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000418951|protein_coding|5/5|c.*223A>G|||||42036|,G|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399777|nonsense_mediated_decay|3/3|n.*152A>G|||||24442|,G|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|6/6|n.*260A>G||||||,G|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399777|nonsense_mediated_decay|3/3|n.*152A>G||||||,G|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000485631|processed_transcript|2/2|n.170A>G|||||| 22 18209524 . C T . . ANN=T|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000317582|protein_coding|7/7|c.682C>T|p.Pro228Ser|1029/2992|682/1458|228/485||,T|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000543133|protein_coding|6/6|c.196C>T|p.Pro66Ser|721/2662|196/972|66/323||,T|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000538149|protein_coding|4/4|c.310C>T|p.Pro104Ser|527/1469|310/1086|104/361||,T|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000337612|protein_coding|5/5|c.196C>T|p.Pro66Ser|628/1532|196/972|66/323||,T|synonymous_variant|LOW|BCL2L13|ENSG00000099968|transcript|ENST00000355028|protein_coding|5/5|c.468C>T|p.Cys156Cys|594/4458|468/516|156/171||,T|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|6/6|n.*288C>T|||||30610|,T|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000418951|protein_coding|5/5|c.*251C>T|||||42064|,T|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399777|nonsense_mediated_decay|3/3|n.*180C>T|||||24470|,T|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|6/6|n.*288C>T||||||,T|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399777|nonsense_mediated_decay|3/3|n.*180C>T||||||,T|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000485631|processed_transcript|2/2|n.198C>T|||||| 22 18209599 . C T . . ANN=T|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000317582|protein_coding|7/7|c.757C>T|p.Pro253Ser|1104/2992|757/1458|253/485||,T|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000543133|protein_coding|6/6|c.271C>T|p.Pro91Ser|796/2662|271/972|91/323||,T|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000538149|protein_coding|4/4|c.385C>T|p.Pro129Ser|602/1469|385/1086|129/361||,T|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000337612|protein_coding|5/5|c.271C>T|p.Pro91Ser|703/1532|271/972|91/323||,T|sequence_feature|LOW|BCL2L13|ENSG00000099968|repeat:A|ENST00000317582|protein_coding|7/7|c.757C>T||||||,T|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|6/6|n.*363C>T|||||30685|,T|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000355028|protein_coding|5/5|c.*27C>T|||||27|,T|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000418951|protein_coding|5/5|c.*326C>T|||||42139|,T|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399777|nonsense_mediated_decay|3/3|n.*255C>T|||||24545|,T|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|6/6|n.*363C>T||||||,T|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399777|nonsense_mediated_decay|3/3|n.*255C>T||||||,T|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000485631|processed_transcript|2/2|n.273C>T|||||| 22 18209613 . A G . . ANN=G|synonymous_variant|LOW|BCL2L13|ENSG00000099968|transcript|ENST00000317582|protein_coding|7/7|c.771A>G|p.Ser257Ser|1118/2992|771/1458|257/485||,G|synonymous_variant|LOW|BCL2L13|ENSG00000099968|transcript|ENST00000543133|protein_coding|6/6|c.285A>G|p.Ser95Ser|810/2662|285/972|95/323||,G|synonymous_variant|LOW|BCL2L13|ENSG00000099968|transcript|ENST00000538149|protein_coding|4/4|c.399A>G|p.Ser133Ser|616/1469|399/1086|133/361||,G|synonymous_variant|LOW|BCL2L13|ENSG00000099968|transcript|ENST00000337612|protein_coding|5/5|c.285A>G|p.Ser95Ser|717/1532|285/972|95/323||,G|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|6/6|n.*377A>G|||||30699|,G|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000355028|protein_coding|5/5|c.*41A>G|||||41|,G|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000418951|protein_coding|5/5|c.*340A>G|||||42153|,G|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399777|nonsense_mediated_decay|3/3|n.*269A>G|||||24559|,G|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|6/6|n.*377A>G||||||,G|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399777|nonsense_mediated_decay|3/3|n.*269A>G||||||,G|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000485631|processed_transcript|2/2|n.287A>G|||||| 22 18209718 . C T . . ANN=T|synonymous_variant|LOW|BCL2L13|ENSG00000099968|transcript|ENST00000317582|protein_coding|7/7|c.876C>T|p.Asn292Asn|1223/2992|876/1458|292/485||,T|synonymous_variant|LOW|BCL2L13|ENSG00000099968|transcript|ENST00000543133|protein_coding|6/6|c.390C>T|p.Asn130Asn|915/2662|390/972|130/323||,T|synonymous_variant|LOW|BCL2L13|ENSG00000099968|transcript|ENST00000538149|protein_coding|4/4|c.504C>T|p.Asn168Asn|721/1469|504/1086|168/361||,T|synonymous_variant|LOW|BCL2L13|ENSG00000099968|transcript|ENST00000337612|protein_coding|5/5|c.390C>T|p.Asn130Asn|822/1532|390/972|130/323||,T|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|6/6|n.*482C>T|||||30804|,T|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000355028|protein_coding|5/5|c.*146C>T|||||146|,T|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000418951|protein_coding|5/5|c.*445C>T|||||42258|,T|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399777|nonsense_mediated_decay|3/3|n.*374C>T|||||24664|,T|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|6/6|n.*482C>T||||||,T|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399777|nonsense_mediated_decay|3/3|n.*374C>T||||||,T|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000485631|processed_transcript|2/2|n.392C>T|||||| 22 18209719 . G A . . ANN=A|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000317582|protein_coding|7/7|c.877G>A|p.Gly293Arg|1224/2992|877/1458|293/485||,A|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000543133|protein_coding|6/6|c.391G>A|p.Gly131Arg|916/2662|391/972|131/323||,A|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000538149|protein_coding|4/4|c.505G>A|p.Gly169Arg|722/1469|505/1086|169/361||,A|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000337612|protein_coding|5/5|c.391G>A|p.Gly131Arg|823/1532|391/972|131/323||,A|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|6/6|n.*483G>A|||||30805|,A|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000355028|protein_coding|5/5|c.*147G>A|||||147|,A|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000418951|protein_coding|5/5|c.*446G>A|||||42259|,A|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399777|nonsense_mediated_decay|3/3|n.*375G>A|||||24665|,A|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|6/6|n.*483G>A||||||,A|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399777|nonsense_mediated_decay|3/3|n.*375G>A||||||,A|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000485631|processed_transcript|2/2|n.393G>A|||||| 22 18209769 . C T . . ANN=T|synonymous_variant|LOW|BCL2L13|ENSG00000099968|transcript|ENST00000317582|protein_coding|7/7|c.927C>T|p.His309His|1274/2992|927/1458|309/485||,T|synonymous_variant|LOW|BCL2L13|ENSG00000099968|transcript|ENST00000543133|protein_coding|6/6|c.441C>T|p.His147His|966/2662|441/972|147/323||,T|synonymous_variant|LOW|BCL2L13|ENSG00000099968|transcript|ENST00000538149|protein_coding|4/4|c.555C>T|p.His185His|772/1469|555/1086|185/361||,T|synonymous_variant|LOW|BCL2L13|ENSG00000099968|transcript|ENST00000337612|protein_coding|5/5|c.441C>T|p.His147His|873/1532|441/972|147/323||,T|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|6/6|n.*533C>T|||||30855|,T|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000355028|protein_coding|5/5|c.*197C>T|||||197|,T|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000418951|protein_coding|5/5|c.*496C>T|||||42309|,T|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399777|nonsense_mediated_decay|3/3|n.*425C>T|||||24715|,T|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|6/6|n.*533C>T||||||,T|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399777|nonsense_mediated_decay|3/3|n.*425C>T||||||,T|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000485631|processed_transcript|2/2|n.443C>T|||||| 22 18209920 . C T . . ANN=T|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000317582|protein_coding|7/7|c.1078C>T|p.Pro360Ser|1425/2992|1078/1458|360/485||,T|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000543133|protein_coding|6/6|c.592C>T|p.Pro198Ser|1117/2662|592/972|198/323||,T|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000538149|protein_coding|4/4|c.706C>T|p.Pro236Ser|923/1469|706/1086|236/361||,T|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000337612|protein_coding|5/5|c.592C>T|p.Pro198Ser|1024/1532|592/972|198/323||,T|sequence_feature|LOW|BCL2L13|ENSG00000099968|compositionally_biased_region:Glu-rich|ENST00000317582|protein_coding|7/7|c.1078C>T||||||,T|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|6/6|n.*684C>T|||||31006|,T|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000355028|protein_coding|5/5|c.*348C>T|||||348|,T|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000418951|protein_coding|5/5|c.*647C>T|||||42460|,T|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399777|nonsense_mediated_decay|3/3|n.*576C>T|||||24866|,T|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|6/6|n.*684C>T||||||,T|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399777|nonsense_mediated_decay|3/3|n.*576C>T||||||,T|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000485631|processed_transcript|2/2|n.594C>T|||||| 22 18209989 . G A . . ANN=A|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000317582|protein_coding|7/7|c.1147G>A|p.Glu383Lys|1494/2992|1147/1458|383/485||,A|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000543133|protein_coding|6/6|c.661G>A|p.Glu221Lys|1186/2662|661/972|221/323||,A|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000538149|protein_coding|4/4|c.775G>A|p.Glu259Lys|992/1469|775/1086|259/361||,A|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000337612|protein_coding|5/5|c.661G>A|p.Glu221Lys|1093/1532|661/972|221/323||,A|sequence_feature|LOW|BCL2L13|ENSG00000099968|compositionally_biased_region:Glu-rich|ENST00000317582|protein_coding|7/7|c.1147G>A||||||,A|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|6/6|n.*753G>A|||||31075|,A|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000355028|protein_coding|5/5|c.*417G>A|||||417|,A|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000418951|protein_coding|5/5|c.*716G>A|||||42529|,A|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399777|nonsense_mediated_decay|3/3|n.*645G>A|||||24935|,A|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|6/6|n.*753G>A||||||,A|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399777|nonsense_mediated_decay|3/3|n.*645G>A||||||,A|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000485631|processed_transcript|2/2|n.663G>A|||||| 22 18210130 . GAGA G . . ANN=|inframe_deletion|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000317582|protein_coding|7/7|c.1294_1296delAAG|p.Lys432del|1641/2992|1294/1458|432/485||INFO_REALIGN_3_PRIME,|inframe_deletion|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000543133|protein_coding|6/6|c.808_810delAAG|p.Lys270del|1333/2662|808/972|270/323||INFO_REALIGN_3_PRIME,|inframe_deletion|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000538149|protein_coding|4/4|c.922_924delAAG|p.Lys308del|1139/1469|922/1086|308/361||INFO_REALIGN_3_PRIME,|inframe_deletion|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000337612|protein_coding|5/5|c.808_810delAAG|p.Lys270del|1240/1532|808/972|270/323||INFO_REALIGN_3_PRIME,|sequence_feature|LOW|BCL2L13|ENSG00000099968|repeat:B|ENST00000317582|protein_coding|7/7|c.1289_1291delAGA||||||,|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|6/6|n.*900_*902delAAG|||||31222|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000355028|protein_coding|5/5|c.*564_*566delAAG|||||564|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000418951|protein_coding|5/5|c.*863_*865delAAG|||||42676|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399777|nonsense_mediated_decay|3/3|n.*792_*794delAAG|||||25082|INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|6/6|n.*900_*902delAAG||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399777|nonsense_mediated_decay|3/3|n.*792_*794delAAG||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000485631|processed_transcript|2/2|n.810_812delAAG||||||INFO_REALIGN_3_PRIME 22 18210177 . C T . . ANN=T|synonymous_variant|LOW|BCL2L13|ENSG00000099968|transcript|ENST00000317582|protein_coding|7/7|c.1335C>T|p.Pro445Pro|1682/2992|1335/1458|445/485||,T|synonymous_variant|LOW|BCL2L13|ENSG00000099968|transcript|ENST00000543133|protein_coding|6/6|c.849C>T|p.Pro283Pro|1374/2662|849/972|283/323||,T|synonymous_variant|LOW|BCL2L13|ENSG00000099968|transcript|ENST00000538149|protein_coding|4/4|c.963C>T|p.Pro321Pro|1180/1469|963/1086|321/361||,T|synonymous_variant|LOW|BCL2L13|ENSG00000099968|transcript|ENST00000337612|protein_coding|5/5|c.849C>T|p.Pro283Pro|1281/1532|849/972|283/323||,T|sequence_feature|LOW|BCL2L13|ENSG00000099968|repeat:B|ENST00000317582|protein_coding|7/7|c.1335C>T||||||,T|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|6/6|n.*941C>T|||||31263|,T|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000355028|protein_coding|5/5|c.*605C>T|||||605|,T|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000418951|protein_coding|5/5|c.*904C>T|||||42717|,T|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399777|nonsense_mediated_decay|3/3|n.*833C>T|||||25123|,T|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|6/6|n.*941C>T||||||,T|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399777|nonsense_mediated_decay|3/3|n.*833C>T||||||,T|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000485631|processed_transcript|2/2|n.851C>T|||||| 22 18210242 . C T . . ANN=T|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000317582|protein_coding|7/7|c.1400C>T|p.Ala467Val|1747/2992|1400/1458|467/485||,T|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000543133|protein_coding|6/6|c.914C>T|p.Ala305Val|1439/2662|914/972|305/323||,T|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000538149|protein_coding|4/4|c.1028C>T|p.Ala343Val|1245/1469|1028/1086|343/361||,T|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000337612|protein_coding|5/5|c.914C>T|p.Ala305Val|1346/1532|914/972|305/323||,T|sequence_feature|LOW|BCL2L13|ENSG00000099968|transmembrane_region:Transmembrane_region|ENST00000317582|protein_coding|7/7|c.1400C>T||||||,T|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|6/6|n.*1006C>T|||||31328|,T|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000355028|protein_coding|5/5|c.*670C>T|||||670|,T|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000418951|protein_coding|5/5|c.*969C>T|||||42782|,T|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399777|nonsense_mediated_decay|3/3|n.*898C>T|||||25188|,T|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|6/6|n.*1006C>T||||||,T|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399777|nonsense_mediated_decay|3/3|n.*898C>T||||||,T|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000485631|processed_transcript|2/2|n.916C>T|||||| 22 18218311 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000317361|protein_coding|6/6|c.*35C>T|||||35|,A|3_prime_UTR_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399767|protein_coding|5/5|c.*35C>T|||||35|,A|3_prime_UTR_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399774|protein_coding|6/6|c.*35C>T|||||35|,A|3_prime_UTR_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399765|protein_coding|4/4|c.*35C>T|||||35|,A|3_prime_UTR_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000342111|protein_coding|7/7|c.*304C>T|||||3848|,A|downstream_gene_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000355028|protein_coding||c.*642G>A|||||4923|,A|downstream_gene_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000550946|retained_intron||n.*1394C>T|||||7|,A|downstream_gene_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000551952|protein_coding||c.*672C>T|||||7|,A|downstream_gene_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000473439|processed_transcript||n.*638C>T|||||2513|,A|downstream_gene_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000552886|processed_transcript||n.*330C>T|||||3903|,A|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000494097|retained_intron|3/3|n.2106C>T|||||| 22 18218344 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000317361|protein_coding|6/6|c.*2C>T|||||2|,A|3_prime_UTR_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399767|protein_coding|5/5|c.*2C>T|||||2|,A|3_prime_UTR_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399774|protein_coding|6/6|c.*2C>T|||||2|,A|3_prime_UTR_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399765|protein_coding|4/4|c.*2C>T|||||2|,A|3_prime_UTR_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000342111|protein_coding|7/7|c.*271C>T|||||3815|,A|3_prime_UTR_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000551952|protein_coding|6/6|c.*2C>T|||||2|,A|downstream_gene_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000355028|protein_coding||c.*642G>A|||||4956|,A|downstream_gene_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000473439|processed_transcript||n.*638C>T|||||2480|,A|downstream_gene_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000552886|processed_transcript||n.*330C>T|||||3870|,A|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000494097|retained_intron|3/3|n.2073C>T||||||,A|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000550946|retained_intron|6/6|n.1368C>T|||||| 22 18218353 . A G . . ANN=G|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000317361|protein_coding|6/6|c.719T>C|p.Met240Thr|1046/2493|719/726|240/241||,G|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000399767|protein_coding|5/5|c.293T>C|p.Met98Thr|681/2126|293/300|98/99||,G|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000399774|protein_coding|6/6|c.581T>C|p.Met194Thr|751/2167|581/588|194/195||,G|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000399765|protein_coding|4/4|c.293T>C|p.Met98Thr|467/1879|293/300|98/99||,G|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000551952|protein_coding|6/6|c.581T>C|p.Met194Thr|665/700|581/588|194/195||,G|3_prime_UTR_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000342111|protein_coding|7/7|c.*262T>C|||||3806|,G|downstream_gene_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000355028|protein_coding||c.*642A>G|||||4965|,G|downstream_gene_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000473439|processed_transcript||n.*638T>C|||||2471|,G|downstream_gene_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000552886|processed_transcript||n.*330T>C|||||3861|,G|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000494097|retained_intron|3/3|n.2064T>C||||||,G|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000550946|retained_intron|6/6|n.1359T>C|||||| 22 18220746 . G A . . ANN=A|downstream_gene_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000473439|processed_transcript||n.*638C>T|||||78|,A|downstream_gene_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000552886|processed_transcript||n.*330C>T|||||1468|,A|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000317361|protein_coding|5/5|c.714+37C>T||||||,A|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399767|protein_coding|4/4|c.288+37C>T||||||,A|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399774|protein_coding|5/5|c.576+37C>T||||||,A|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399765|protein_coding|3/3|c.288+37C>T||||||,A|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000494097|retained_intron|2/2|n.2059+37C>T||||||,A|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000342111|protein_coding|6/6|c.*257+37C>T||||||,A|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000550946|retained_intron|5/5|n.1354+37C>T||||||,A|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000551952|protein_coding|5/5|c.576+37C>T|||||| 22 18220774 . G C . . ANN=C|downstream_gene_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000473439|processed_transcript||n.*638C>G|||||50|,C|downstream_gene_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000552886|processed_transcript||n.*330C>G|||||1440|,C|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000317361|protein_coding|5/5|c.714+9C>G||||||,C|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399767|protein_coding|4/4|c.288+9C>G||||||,C|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399774|protein_coding|5/5|c.576+9C>G||||||,C|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399765|protein_coding|3/3|c.288+9C>G||||||,C|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000494097|retained_intron|2/2|n.2059+9C>G||||||,C|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000342111|protein_coding|6/6|c.*257+9C>G||||||,C|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000550946|retained_intron|5/5|n.1354+9C>G||||||,C|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000551952|protein_coding|5/5|c.576+9C>G|||||| 22 18220811 . C T . . ANN=T|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000317361|protein_coding|5/6|c.686G>A|p.Arg229His|1013/2493|686/726|229/241||,T|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000399767|protein_coding|4/5|c.260G>A|p.Arg87His|648/2126|260/300|87/99||,T|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000399774|protein_coding|5/6|c.548G>A|p.Arg183His|718/2167|548/588|183/195||,T|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000399765|protein_coding|3/4|c.260G>A|p.Arg87His|434/1879|260/300|87/99||,T|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000551952|protein_coding|5/6|c.548G>A|p.Arg183His|632/700|548/588|183/195||,T|sequence_feature|LOW|BID|ENSG00000015475|helix|ENST00000317361|protein_coding|5/6|c.686G>A||||||,T|sequence_feature|LOW|BID|ENSG00000015475|helix|ENST00000551952|protein_coding|5/6|c.548G>A||||||,T|3_prime_UTR_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000342111|protein_coding|6/7|c.*229G>A|||||1348|,T|downstream_gene_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000473439|processed_transcript||n.*638G>A|||||13|,T|downstream_gene_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000552886|processed_transcript||n.*330G>A|||||1403|,T|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000494097|retained_intron|2/3|n.2031G>A||||||,T|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000550946|retained_intron|5/6|n.1326G>A|||||| 22 18220831 . A G . . ANN=G|synonymous_variant|LOW|BID|ENSG00000015475|transcript|ENST00000317361|protein_coding|5/6|c.666T>C|p.Asn222Asn|993/2493|666/726|222/241||,G|synonymous_variant|LOW|BID|ENSG00000015475|transcript|ENST00000399767|protein_coding|4/5|c.240T>C|p.Asn80Asn|628/2126|240/300|80/99||,G|synonymous_variant|LOW|BID|ENSG00000015475|transcript|ENST00000399774|protein_coding|5/6|c.528T>C|p.Asn176Asn|698/2167|528/588|176/195||,G|synonymous_variant|LOW|BID|ENSG00000015475|transcript|ENST00000399765|protein_coding|3/4|c.240T>C|p.Asn80Asn|414/1879|240/300|80/99||,G|synonymous_variant|LOW|BID|ENSG00000015475|transcript|ENST00000551952|protein_coding|5/6|c.528T>C|p.Asn176Asn|612/700|528/588|176/195||,G|sequence_feature|LOW|BID|ENSG00000015475|helix|ENST00000317361|protein_coding|5/6|c.666T>C||||||,G|sequence_feature|LOW|BID|ENSG00000015475|helix|ENST00000551952|protein_coding|5/6|c.528T>C||||||,G|3_prime_UTR_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000342111|protein_coding|6/7|c.*209T>C|||||1328|,G|downstream_gene_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000552886|processed_transcript||n.*330T>C|||||1383|,G|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000494097|retained_intron|2/3|n.2011T>C||||||,G|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000550946|retained_intron|5/6|n.1306T>C||||||,G|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000473439|processed_transcript|4/4|n.631T>C|||||| 22 18220857 . G A . . ANN=A|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000317361|protein_coding|5/6|c.640C>T|p.Arg214Cys|967/2493|640/726|214/241||,A|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000399767|protein_coding|4/5|c.214C>T|p.Arg72Cys|602/2126|214/300|72/99||,A|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000399774|protein_coding|5/6|c.502C>T|p.Arg168Cys|672/2167|502/588|168/195||,A|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000399765|protein_coding|3/4|c.214C>T|p.Arg72Cys|388/1879|214/300|72/99||,A|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000551952|protein_coding|5/6|c.502C>T|p.Arg168Cys|586/700|502/588|168/195||,A|sequence_feature|LOW|BID|ENSG00000015475|helix|ENST00000317361|protein_coding|5/6|c.640C>T||||||,A|sequence_feature|LOW|BID|ENSG00000015475|helix|ENST00000551952|protein_coding|5/6|c.502C>T||||||,A|3_prime_UTR_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000342111|protein_coding|6/7|c.*183C>T|||||1302|,A|downstream_gene_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000552886|processed_transcript||n.*330C>T|||||1357|,A|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000494097|retained_intron|2/3|n.1985C>T||||||,A|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000550946|retained_intron|5/6|n.1280C>T||||||,A|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000473439|processed_transcript|4/4|n.605C>T|||||| 22 18220916 . A G . . ANN=G|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000317361|protein_coding|5/6|c.581T>C|p.Met194Thr|908/2493|581/726|194/241||,G|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000399767|protein_coding|4/5|c.155T>C|p.Met52Thr|543/2126|155/300|52/99||,G|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000399774|protein_coding|5/6|c.443T>C|p.Met148Thr|613/2167|443/588|148/195||,G|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000399765|protein_coding|3/4|c.155T>C|p.Met52Thr|329/1879|155/300|52/99||,G|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000551952|protein_coding|5/6|c.443T>C|p.Met148Thr|527/700|443/588|148/195||,G|sequence_feature|LOW|BID|ENSG00000015475|helix|ENST00000317361|protein_coding|5/6|c.581T>C||||||,G|sequence_feature|LOW|BID|ENSG00000015475|helix|ENST00000551952|protein_coding|5/6|c.443T>C||||||,G|3_prime_UTR_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000342111|protein_coding|6/7|c.*124T>C|||||1243|,G|downstream_gene_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000552886|processed_transcript||n.*330T>C|||||1298|,G|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000494097|retained_intron|2/3|n.1926T>C||||||,G|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000550946|retained_intron|5/6|n.1221T>C||||||,G|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000473439|processed_transcript|4/4|n.546T>C|||||| 22 18222085 . C T . . ANN=T|sequence_feature|LOW|BID|ENSG00000015475|helix|ENST00000317361|protein_coding|4/6|c.501+30G>A||||||,T|sequence_feature|LOW|BID|ENSG00000015475|helix|ENST00000317361|protein_coding|5/6|c.501+30G>A||||||,T|sequence_feature|LOW|BID|ENSG00000015475|helix|ENST00000551952|protein_coding|4/6|c.363+30G>A||||||,T|sequence_feature|LOW|BID|ENSG00000015475|helix|ENST00000551952|protein_coding|5/6|c.363+30G>A||||||,T|downstream_gene_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000552886|processed_transcript||n.*330G>A|||||129|,T|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000317361|protein_coding|4/5|c.501+30G>A||||||,T|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399767|protein_coding|3/4|c.75+30G>A||||||,T|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399774|protein_coding|4/5|c.363+30G>A||||||,T|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399765|protein_coding|2/3|c.75+30G>A||||||,T|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000494097|retained_intron|1/2|n.1846+30G>A||||||,T|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000342111|protein_coding|5/6|c.*44+30G>A||||||,T|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000550946|retained_intron|4/5|n.1141+30G>A||||||,T|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000551952|protein_coding|4/5|c.363+30G>A||||||,T|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000473439|processed_transcript|3/3|n.466+30G>A|||||| 22 18222089 . C A . . ANN=A|sequence_feature|LOW|BID|ENSG00000015475|helix|ENST00000317361|protein_coding|4/6|c.501+26G>T||||||,A|sequence_feature|LOW|BID|ENSG00000015475|helix|ENST00000317361|protein_coding|5/6|c.501+26G>T||||||,A|sequence_feature|LOW|BID|ENSG00000015475|helix|ENST00000551952|protein_coding|4/6|c.363+26G>T||||||,A|sequence_feature|LOW|BID|ENSG00000015475|helix|ENST00000551952|protein_coding|5/6|c.363+26G>T||||||,A|downstream_gene_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000552886|processed_transcript||n.*330G>T|||||125|,A|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000317361|protein_coding|4/5|c.501+26G>T||||||,A|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399767|protein_coding|3/4|c.75+26G>T||||||,A|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399774|protein_coding|4/5|c.363+26G>T||||||,A|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399765|protein_coding|2/3|c.75+26G>T||||||,A|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000494097|retained_intron|1/2|n.1846+26G>T||||||,A|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000342111|protein_coding|5/6|c.*44+26G>T||||||,A|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000550946|retained_intron|4/5|n.1141+26G>T||||||,A|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000551952|protein_coding|4/5|c.363+26G>T||||||,A|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000473439|processed_transcript|3/3|n.466+26G>T|||||| 22 18222113 . A G . . ANN=G|splice_donor_variant&intron_variant|HIGH|BID|ENSG00000015475|transcript|ENST00000317361|protein_coding|4/5|c.501+2T>C||||||,G|splice_donor_variant&intron_variant|HIGH|BID|ENSG00000015475|transcript|ENST00000399767|protein_coding|3/4|c.75+2T>C||||||,G|splice_donor_variant&intron_variant|HIGH|BID|ENSG00000015475|transcript|ENST00000399774|protein_coding|4/5|c.363+2T>C||||||,G|splice_donor_variant&intron_variant|HIGH|BID|ENSG00000015475|transcript|ENST00000399765|protein_coding|2/3|c.75+2T>C||||||,G|splice_donor_variant&intron_variant|HIGH|BID|ENSG00000015475|transcript|ENST00000494097|retained_intron|1/2|n.1846+2T>C||||||,G|splice_donor_variant&intron_variant|HIGH|BID|ENSG00000015475|transcript|ENST00000342111|protein_coding|5/6|c.*44+2T>C||||||,G|splice_donor_variant&intron_variant|HIGH|BID|ENSG00000015475|transcript|ENST00000550946|retained_intron|4/5|n.1141+2T>C||||||,G|splice_donor_variant&intron_variant|HIGH|BID|ENSG00000015475|transcript|ENST00000551952|protein_coding|4/5|c.363+2T>C||||||,G|splice_donor_variant&intron_variant|HIGH|BID|ENSG00000015475|transcript|ENST00000473439|processed_transcript|3/3|n.466+2T>C||||||,G|sequence_feature|LOW|BID|ENSG00000015475|helix|ENST00000317361|protein_coding|4/6|c.501+2T>C||||||,G|sequence_feature|LOW|BID|ENSG00000015475|helix|ENST00000317361|protein_coding|5/6|c.501+2T>C||||||,G|sequence_feature|LOW|BID|ENSG00000015475|helix|ENST00000551952|protein_coding|4/6|c.363+2T>C||||||,G|sequence_feature|LOW|BID|ENSG00000015475|helix|ENST00000551952|protein_coding|5/6|c.363+2T>C||||||,G|downstream_gene_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000552886|processed_transcript||n.*330T>C|||||101|;LOF=(BID|ENSG00000015475|10|0.60) 22 18222169 . C T . . ANN=T|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000342111|protein_coding|5/7|c.404G>A|p.Arg135Gln|494/854|404/414|135/137||,T|synonymous_variant|LOW|BID|ENSG00000015475|transcript|ENST00000317361|protein_coding|4/6|c.447G>A|p.Pro149Pro|774/2493|447/726|149/241||,T|synonymous_variant|LOW|BID|ENSG00000015475|transcript|ENST00000399767|protein_coding|3/5|c.21G>A|p.Pro7Pro|409/2126|21/300|7/99||,T|synonymous_variant|LOW|BID|ENSG00000015475|transcript|ENST00000399774|protein_coding|4/6|c.309G>A|p.Pro103Pro|479/2167|309/588|103/195||,T|synonymous_variant|LOW|BID|ENSG00000015475|transcript|ENST00000399765|protein_coding|2/4|c.21G>A|p.Pro7Pro|195/1879|21/300|7/99||,T|synonymous_variant|LOW|BID|ENSG00000015475|transcript|ENST00000551952|protein_coding|4/6|c.309G>A|p.Pro103Pro|393/700|309/588|103/195||,T|downstream_gene_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000552886|processed_transcript||n.*330G>A|||||45|,T|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000494097|retained_intron|1/3|n.1792G>A||||||,T|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000550946|retained_intron|4/6|n.1087G>A||||||,T|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000473439|processed_transcript|3/4|n.412G>A|||||| 22 18222199 . G A . . ANN=A|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000342111|protein_coding|5/7|c.374C>T|p.Ser125Leu|464/854|374/414|125/137||,A|synonymous_variant|LOW|BID|ENSG00000015475|transcript|ENST00000317361|protein_coding|4/6|c.417C>T|p.Val139Val|744/2493|417/726|139/241||,A|synonymous_variant|LOW|BID|ENSG00000015475|transcript|ENST00000399774|protein_coding|4/6|c.279C>T|p.Val93Val|449/2167|279/588|93/195||,A|synonymous_variant|LOW|BID|ENSG00000015475|transcript|ENST00000551952|protein_coding|4/6|c.279C>T|p.Val93Val|363/700|279/588|93/195||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|BID|ENSG00000015475|transcript|ENST00000399767|protein_coding|3/5|c.-10C>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|BID|ENSG00000015475|transcript|ENST00000399765|protein_coding|2/4|c.-10C>T||||||,A|sequence_feature|LOW|BID|ENSG00000015475|short_sequence_motif:BH3|ENST00000317361|protein_coding|4/6|c.417C>T||||||,A|sequence_feature|LOW|BID|ENSG00000015475|helix|ENST00000317361|protein_coding|4/6|c.417C>T||||||,A|sequence_feature|LOW|BID|ENSG00000015475|short_sequence_motif:BH3|ENST00000551952|protein_coding|4/6|c.279C>T||||||,A|sequence_feature|LOW|BID|ENSG00000015475|helix|ENST00000551952|protein_coding|4/6|c.279C>T||||||,A|5_prime_UTR_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399767|protein_coding|3/5|c.-10C>T|||||10|,A|5_prime_UTR_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399765|protein_coding|2/4|c.-10C>T|||||10|,A|downstream_gene_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000552886|processed_transcript||n.*330C>T|||||15|,A|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000494097|retained_intron|1/3|n.1762C>T||||||,A|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000550946|retained_intron|4/6|n.1057C>T||||||,A|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000473439|processed_transcript|3/4|n.382C>T|||||| 22 18222263 . A G . . ANN=G|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000317361|protein_coding|3/5|c.362-9T>C||||||,G|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399767|protein_coding|2/4|c.-65-9T>C||||||,G|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399774|protein_coding|3/5|c.224-9T>C||||||,G|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399765|protein_coding|1/3|c.-65-9T>C||||||,G|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000342111|protein_coding|4/6|c.319-9T>C||||||,G|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000551952|protein_coding|3/5|c.224-9T>C||||||,G|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000473439|processed_transcript|2/3|n.327-9T>C||||||,G|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000552886|processed_transcript|2/2|n.290-9T>C||||||,G|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000494097|retained_intron|1/3|n.1698T>C||||||,G|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000550946|retained_intron|4/6|n.993T>C|||||| 22 18226521 . C T . . ANN=T|upstream_gene_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000494097|retained_intron||n.-1G>A|||||2561|,T|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000317361|protein_coding|3/5|c.361+48G>A||||||,T|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399767|protein_coding|2/4|c.-66+48G>A||||||,T|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399774|protein_coding|3/5|c.223+48G>A||||||,T|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399765|protein_coding|1/3|c.-65-4267G>A||||||,T|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000342111|protein_coding|3/6|c.223+48G>A||||||,T|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000550946|retained_intron|3/5|n.313+48G>A||||||,T|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000551952|protein_coding|3/5|c.223+48G>A||||||,T|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000473439|processed_transcript|2/3|n.326+48G>A||||||,T|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000552886|processed_transcript|2/2|n.289+48G>A|||||| 22 18226528 . G A . . ANN=A|upstream_gene_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000494097|retained_intron||n.-1C>T|||||2568|,A|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000317361|protein_coding|3/5|c.361+41C>T||||||,A|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399767|protein_coding|2/4|c.-66+41C>T||||||,A|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399774|protein_coding|3/5|c.223+41C>T||||||,A|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399765|protein_coding|1/3|c.-65-4274C>T||||||,A|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000342111|protein_coding|3/6|c.223+41C>T||||||,A|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000550946|retained_intron|3/5|n.313+41C>T||||||,A|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000551952|protein_coding|3/5|c.223+41C>T||||||,A|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000473439|processed_transcript|2/3|n.326+41C>T||||||,A|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000552886|processed_transcript|2/2|n.289+41C>T|||||| 22 18226590 . G A . . ANN=A|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000317361|protein_coding|3/6|c.340C>T|p.Arg114Cys|667/2493|340/726|114/241||,A|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000399774|protein_coding|3/6|c.202C>T|p.Arg68Cys|372/2167|202/588|68/195||,A|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000342111|protein_coding|3/7|c.202C>T|p.Arg68Cys|292/854|202/414|68/137||,A|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000551952|protein_coding|3/6|c.202C>T|p.Arg68Cys|286/700|202/588|68/195||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|BID|ENSG00000015475|transcript|ENST00000399767|protein_coding|2/5|c.-87C>T||||||,A|5_prime_UTR_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399767|protein_coding|2/5|c.-87C>T|||||4401|,A|upstream_gene_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000494097|retained_intron||n.-1C>T|||||2630|,A|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399765|protein_coding|1/3|c.-65-4336C>T||||||,A|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000550946|retained_intron|3/6|n.292C>T||||||,A|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000473439|processed_transcript|2/4|n.305C>T||||||,A|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000552886|processed_transcript|2/3|n.268C>T|||||| 22 18226612 . A G . . ANN=G|synonymous_variant|LOW|BID|ENSG00000015475|transcript|ENST00000317361|protein_coding|3/6|c.318T>C|p.Asp106Asp|645/2493|318/726|106/241||,G|synonymous_variant|LOW|BID|ENSG00000015475|transcript|ENST00000399774|protein_coding|3/6|c.180T>C|p.Asp60Asp|350/2167|180/588|60/195||,G|synonymous_variant|LOW|BID|ENSG00000015475|transcript|ENST00000342111|protein_coding|3/7|c.180T>C|p.Asp60Asp|270/854|180/414|60/137||,G|synonymous_variant|LOW|BID|ENSG00000015475|transcript|ENST00000551952|protein_coding|3/6|c.180T>C|p.Asp60Asp|264/700|180/588|60/195||,G|5_prime_UTR_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399767|protein_coding|2/5|c.-109T>C|||||4423|,G|upstream_gene_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000494097|retained_intron||n.-1T>C|||||2652|,G|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399765|protein_coding|1/3|c.-65-4358T>C||||||,G|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000550946|retained_intron|3/6|n.270T>C||||||,G|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000473439|processed_transcript|2/4|n.283T>C||||||,G|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000552886|processed_transcript|2/3|n.246T>C|||||| 22 18226666 . G A . . ANN=A|synonymous_variant|LOW|BID|ENSG00000015475|transcript|ENST00000317361|protein_coding|3/6|c.264C>T|p.His88His|591/2493|264/726|88/241||,A|synonymous_variant|LOW|BID|ENSG00000015475|transcript|ENST00000399774|protein_coding|3/6|c.126C>T|p.His42His|296/2167|126/588|42/195||,A|synonymous_variant|LOW|BID|ENSG00000015475|transcript|ENST00000342111|protein_coding|3/7|c.126C>T|p.His42His|216/854|126/414|42/137||,A|synonymous_variant|LOW|BID|ENSG00000015475|transcript|ENST00000551952|protein_coding|3/6|c.126C>T|p.His42His|210/700|126/588|42/195||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|BID|ENSG00000015475|transcript|ENST00000399767|protein_coding|2/5|c.-163C>T||||||,A|sequence_feature|LOW|BID|ENSG00000015475|helix|ENST00000317361|protein_coding|3/6|c.264C>T||||||,A|sequence_feature|LOW|BID|ENSG00000015475|helix|ENST00000342111|protein_coding|3/7|c.126C>T||||||,A|sequence_feature|LOW|BID|ENSG00000015475|helix|ENST00000551952|protein_coding|3/6|c.126C>T||||||,A|5_prime_UTR_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399767|protein_coding|2/5|c.-163C>T|||||4477|,A|upstream_gene_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000494097|retained_intron||n.-1C>T|||||2706|,A|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399765|protein_coding|1/3|c.-65-4412C>T||||||,A|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000550946|retained_intron|3/6|n.216C>T||||||,A|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000473439|processed_transcript|2/4|n.229C>T||||||,A|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000552886|processed_transcript|2/3|n.192C>T|||||| 22 18226689 . T C . . ANN=C|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000317361|protein_coding|3/6|c.241A>G|p.Arg81Gly|568/2493|241/726|81/241||,C|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000399774|protein_coding|3/6|c.103A>G|p.Arg35Gly|273/2167|103/588|35/195||,C|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000342111|protein_coding|3/7|c.103A>G|p.Arg35Gly|193/854|103/414|35/137||,C|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000551952|protein_coding|3/6|c.103A>G|p.Arg35Gly|187/700|103/588|35/195||,C|sequence_feature|LOW|BID|ENSG00000015475|helix|ENST00000317361|protein_coding|3/6|c.241A>G||||||,C|sequence_feature|LOW|BID|ENSG00000015475|helix|ENST00000342111|protein_coding|3/7|c.103A>G||||||,C|sequence_feature|LOW|BID|ENSG00000015475|helix|ENST00000551952|protein_coding|3/6|c.103A>G||||||,C|5_prime_UTR_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399767|protein_coding|2/5|c.-186A>G|||||4500|,C|upstream_gene_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000494097|retained_intron||n.-1A>G|||||2729|,C|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399765|protein_coding|1/3|c.-65-4435A>G||||||,C|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000550946|retained_intron|3/6|n.193A>G||||||,C|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000473439|processed_transcript|2/4|n.206A>G||||||,C|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000552886|processed_transcript|2/3|n.169A>G|||||| 22 18226708 . A G . . ANN=G|synonymous_variant|LOW|BID|ENSG00000015475|transcript|ENST00000317361|protein_coding|3/6|c.222T>C|p.Cys74Cys|549/2493|222/726|74/241||,G|synonymous_variant|LOW|BID|ENSG00000015475|transcript|ENST00000399774|protein_coding|3/6|c.84T>C|p.Cys28Cys|254/2167|84/588|28/195||,G|synonymous_variant|LOW|BID|ENSG00000015475|transcript|ENST00000342111|protein_coding|3/7|c.84T>C|p.Cys28Cys|174/854|84/414|28/137||,G|synonymous_variant|LOW|BID|ENSG00000015475|transcript|ENST00000551952|protein_coding|3/6|c.84T>C|p.Cys28Cys|168/700|84/588|28/195||,G|5_prime_UTR_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399767|protein_coding|2/5|c.-205T>C|||||4519|,G|upstream_gene_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000494097|retained_intron||n.-1T>C|||||2748|,G|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399765|protein_coding|1/3|c.-65-4454T>C||||||,G|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000550946|retained_intron|3/6|n.174T>C||||||,G|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000473439|processed_transcript|2/4|n.187T>C||||||,G|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000552886|processed_transcript|2/3|n.150T>C|||||| 22 18226764 . T C . . ANN=C|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000317361|protein_coding|3/6|c.166A>G|p.Ser56Gly|493/2493|166/726|56/241||,C|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000399774|protein_coding|3/6|c.28A>G|p.Ser10Gly|198/2167|28/588|10/195||,C|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000342111|protein_coding|3/7|c.28A>G|p.Ser10Gly|118/854|28/414|10/137||,C|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000551952|protein_coding|3/6|c.28A>G|p.Ser10Gly|112/700|28/588|10/195||,C|5_prime_UTR_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399767|protein_coding|2/5|c.-261A>G|||||4575|,C|upstream_gene_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000494097|retained_intron||n.-1A>G|||||2804|,C|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399765|protein_coding|1/3|c.-65-4510A>G||||||,C|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000550946|retained_intron|3/6|n.118A>G||||||,C|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000473439|processed_transcript|2/4|n.131A>G||||||,C|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000552886|processed_transcript|2/3|n.94A>G|||||| 22 18226771 . G A . . ANN=A|synonymous_variant|LOW|BID|ENSG00000015475|transcript|ENST00000317361|protein_coding|3/6|c.159C>T|p.Asn53Asn|486/2493|159/726|53/241||,A|synonymous_variant|LOW|BID|ENSG00000015475|transcript|ENST00000399774|protein_coding|3/6|c.21C>T|p.Asn7Asn|191/2167|21/588|7/195||,A|synonymous_variant|LOW|BID|ENSG00000015475|transcript|ENST00000342111|protein_coding|3/7|c.21C>T|p.Asn7Asn|111/854|21/414|7/137||,A|synonymous_variant|LOW|BID|ENSG00000015475|transcript|ENST00000551952|protein_coding|3/6|c.21C>T|p.Asn7Asn|105/700|21/588|7/195||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|BID|ENSG00000015475|transcript|ENST00000399767|protein_coding|2/5|c.-268C>T||||||,A|5_prime_UTR_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399767|protein_coding|2/5|c.-268C>T|||||4582|,A|upstream_gene_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000494097|retained_intron||n.-1C>T|||||2811|,A|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399765|protein_coding|1/3|c.-65-4517C>T||||||,A|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000550946|retained_intron|3/6|n.111C>T||||||,A|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000473439|processed_transcript|2/4|n.124C>T||||||,A|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000552886|processed_transcript|2/3|n.87C>T|||||| 22 18226792 . G C . . ANN=C|upstream_gene_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000494097|retained_intron||n.-1C>G|||||2832|,C|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000317361|protein_coding|2/5|c.151-13C>G||||||,C|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399767|protein_coding|1/4|c.-276-13C>G||||||,C|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399774|protein_coding|2/5|c.13-13C>G||||||,C|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399765|protein_coding|1/3|c.-65-4538C>G||||||,C|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000342111|protein_coding|2/6|c.13-13C>G||||||,C|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000550946|retained_intron|2/5|n.103-13C>G||||||,C|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000551952|protein_coding|2/5|c.13-13C>G||||||,C|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000473439|processed_transcript|1/3|n.116-13C>G||||||,C|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000552886|processed_transcript|1/2|n.79-13C>G|||||| 22 18232837 . C T . . ANN=T|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000317361|protein_coding|2/5|c.150+34G>A||||||,T|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399767|protein_coding|1/4|c.-276-6058G>A||||||,T|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399774|protein_coding|2/5|c.12+34G>A||||||,T|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399765|protein_coding|1/3|c.-65-10583G>A||||||,T|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000342111|protein_coding|2/6|c.12+34G>A||||||,T|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000550946|retained_intron|2/5|n.102+34G>A||||||,T|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000551952|protein_coding|2/5|c.12+34G>A||||||,T|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000473439|processed_transcript|1/3|n.116-6058G>A||||||,T|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000552886|processed_transcript|1/2|n.79-6058G>A|||||| 22 18232954 . C T . . ANN=T|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000317361|protein_coding|1/5|c.81-14G>A||||||,T|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399767|protein_coding|1/4|c.-276-6175G>A||||||,T|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399774|protein_coding|1/5|c.-58-14G>A||||||,T|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399765|protein_coding|1/3|c.-65-10700G>A||||||,T|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000342111|protein_coding|1/6|c.-58-14G>A||||||,T|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000550946|retained_intron|1/5|n.33-14G>A||||||,T|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000551952|protein_coding|1/5|c.-58-14G>A||||||,T|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000473439|processed_transcript|1/3|n.116-6175G>A||||||,T|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000552886|processed_transcript|1/2|n.79-6175G>A|||||| 22 18232966 . G C . . ANN=C|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000317361|protein_coding|1/5|c.81-26C>G||||||,C|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399767|protein_coding|1/4|c.-276-6187C>G||||||,C|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399774|protein_coding|1/5|c.-58-26C>G||||||,C|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399765|protein_coding|1/3|c.-65-10712C>G||||||,C|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000342111|protein_coding|1/6|c.-58-26C>G||||||,C|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000550946|retained_intron|1/5|n.33-26C>G||||||,C|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000551952|protein_coding|1/5|c.-58-26C>G||||||,C|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000473439|processed_transcript|1/3|n.116-6187C>G||||||,C|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000552886|processed_transcript|1/2|n.79-6187C>G|||||| 22 18273463 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|32/32|c.*35C>T|||||35|,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.*3622C>T|||||140|,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.*807C>T|||||249|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.*519C>T|||||567|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|XXbac-B461K10.4|ENSG00000093100|transcript|ENST00000476405|retained_intron|5/5|n.1283C>T||||||,A|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000252134|retained_intron|3/3|n.760C>T|||||| 22 18273475 . A T . . ANN=T|3_prime_UTR_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|32/32|c.*23T>A|||||23|,T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.*3622T>A|||||128|,T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.*807T>A|||||237|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.*519T>A|||||555|WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|XXbac-B461K10.4|ENSG00000093100|transcript|ENST00000476405|retained_intron|5/5|n.1271T>A||||||,T|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000252134|retained_intron|3/3|n.748T>A|||||| 22 18273560 . C G . . ANN=G|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|32/32|c.5947G>C|p.Glu1983Gln|6300/9445|5947/6009|1983/2002||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|32/32|c.5947G>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|29/32|c.5947G>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|31/32|c.5947G>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|28/32|c.5947G>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|30/32|c.5947G>C||||||,G|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.*3622G>C|||||43|,G|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.*807G>C|||||152|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.*519G>C|||||470|WARNING_TRANSCRIPT_NO_START_CODON,G|non_coding_exon_variant|MODIFIER|XXbac-B461K10.4|ENSG00000093100|transcript|ENST00000476405|retained_intron|5/5|n.1186G>C||||||,G|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000252134|retained_intron|3/3|n.663G>C|||||| 22 18273641 . T C . . ANN=C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|32/32|c.5866A>G|p.Ile1956Val|6219/9445|5866/6009|1956/2002||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|32/32|c.5866A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|29/32|c.5866A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|31/32|c.5866A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|28/32|c.5866A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|30/32|c.5866A>G||||||,C|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.*807A>G|||||71|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.*519A>G|||||389|WARNING_TRANSCRIPT_NO_START_CODON,C|non_coding_exon_variant|MODIFIER|XXbac-B461K10.4|ENSG00000093100|transcript|ENST00000476405|retained_intron|5/5|n.1105A>G||||||,C|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000252134|retained_intron|3/3|n.582A>G||||||,C|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript|6/6|n.3584A>G|||||| 22 18273696 . A G . . ANN=G|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|32/32|c.5825-14T>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|29/32|c.5825-14T>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|31/32|c.5825-14T>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|28/32|c.5825-14T>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|30/32|c.5825-14T>C||||||,G|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.*807T>C|||||16|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.*519T>C|||||334|WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|31/31|c.5825-14T>C||||||,G|intron_variant|MODIFIER|XXbac-B461K10.4|ENSG00000093100|transcript|ENST00000476405|retained_intron|4/4|n.1064-14T>C||||||,G|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000252134|retained_intron|2/2|n.541-14T>C||||||,G|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript|5/5|n.3543-14T>C|||||| 22 18273697 . A C . . ANN=C|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|32/32|c.5825-15T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|29/32|c.5825-15T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|31/32|c.5825-15T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|28/32|c.5825-15T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|30/32|c.5825-15T>G||||||,C|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.*807T>G|||||15|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.*519T>G|||||333|WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|31/31|c.5825-15T>G||||||,C|intron_variant|MODIFIER|XXbac-B461K10.4|ENSG00000093100|transcript|ENST00000476405|retained_intron|4/4|n.1064-15T>G||||||,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000252134|retained_intron|2/2|n.541-15T>G||||||,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript|5/5|n.3543-15T>G|||||| 22 18273976 . C A . . ANN=A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|30/32|c.5742G>T|p.Leu1914Leu|6095/9445|5742/6009|1914/2002||,A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding|7/8|c.672G>T|p.Leu224Leu|673/807|672/806|224/267||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|32/32|c.5742G>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|29/32|c.5742G>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|31/32|c.5742G>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|28/32|c.5742G>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|30/32|c.5742G>T||||||,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.*519G>T|||||54|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|XXbac-B461K10.4|ENSG00000093100|transcript|ENST00000476405|retained_intron|3/5|n.981G>T||||||,A|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000252134|retained_intron|1/3|n.458G>T||||||,A|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript|4/6|n.3460G>T|||||| 22 18273978 . G A . . ANN=A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|30/32|c.5740C>T|p.Leu1914Leu|6093/9445|5740/6009|1914/2002||,A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding|7/8|c.670C>T|p.Leu224Leu|671/807|670/806|224/267||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|32/32|c.5740C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|29/32|c.5740C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|31/32|c.5740C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|28/32|c.5740C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|30/32|c.5740C>T||||||,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.*519C>T|||||52|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|XXbac-B461K10.4|ENSG00000093100|transcript|ENST00000476405|retained_intron|3/5|n.979C>T||||||,A|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000252134|retained_intron|1/3|n.456C>T||||||,A|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript|4/6|n.3458C>T|||||| 22 18274009 . C G . . ANN=G|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|30/32|c.5709G>C|p.Glu1903Asp|6062/9445|5709/6009|1903/2002||,G|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding|7/8|c.639G>C|p.Glu213Asp|640/807|639/806|213/267||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|32/32|c.5709G>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|29/32|c.5709G>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|31/32|c.5709G>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|28/32|c.5709G>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|30/32|c.5709G>C||||||,G|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.*519G>C|||||21|WARNING_TRANSCRIPT_NO_START_CODON,G|non_coding_exon_variant|MODIFIER|XXbac-B461K10.4|ENSG00000093100|transcript|ENST00000476405|retained_intron|3/5|n.948G>C||||||,G|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000252134|retained_intron|1/3|n.425G>C||||||,G|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript|4/6|n.3427G>C|||||| 22 18274071 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|29/31|c.5651-4G>A||||||,T|splice_region_variant&intron_variant|LOW|XXbac-B461K10.4|ENSG00000093100|transcript|ENST00000476405|retained_intron|2/4|n.890-4G>A||||||,T|splice_region_variant&intron_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript|3/5|n.3369-4G>A||||||,T|splice_region_variant&intron_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding|6/7|c.581-4G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|splice_region_variant&intron_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding|5/5|c.482-4G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|32/32|c.5651-4G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|29/32|c.5651-4G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|31/32|c.5651-4G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|28/32|c.5651-4G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|30/32|c.5651-4G>A||||||,T|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000252134|retained_intron|1/3|n.363G>A|||||| 22 18274089 . C T . . ANN=T|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|32/32|c.5651-22G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|29/32|c.5651-22G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|31/32|c.5651-22G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|28/32|c.5651-22G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|30/32|c.5651-22G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|29/31|c.5651-22G>A||||||,T|intron_variant|MODIFIER|XXbac-B461K10.4|ENSG00000093100|transcript|ENST00000476405|retained_intron|2/4|n.890-22G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript|3/5|n.3369-22G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding|6/7|c.581-22G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding|5/5|c.482-22G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000252134|retained_intron|1/3|n.345G>A|||||| 22 18274092 . G C . . ANN=C|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|32/32|c.5651-25C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|29/32|c.5651-25C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|31/32|c.5651-25C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|28/32|c.5651-25C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|30/32|c.5651-25C>G||||||,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|29/31|c.5651-25C>G||||||,C|intron_variant|MODIFIER|XXbac-B461K10.4|ENSG00000093100|transcript|ENST00000476405|retained_intron|2/4|n.890-25C>G||||||,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript|3/5|n.3369-25C>G||||||,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding|6/7|c.581-25C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding|5/5|c.482-25C>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000252134|retained_intron|1/3|n.342C>G|||||| 22 18291566 . G A . . ANN=A|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|32/32|c.5650+44C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|29/32|c.5650+44C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|31/32|c.5650+44C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|28/32|c.5650+44C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|30/32|c.5650+44C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|29/31|c.5650+44C>T||||||,A|intron_variant|MODIFIER|XXbac-B461K10.4|ENSG00000093100|transcript|ENST00000476405|retained_intron|2/4|n.889+44C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript|3/5|n.3368+44C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding|5/7|c.529+44C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding|4/5|c.415+44C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000584751|protein_coding|2/2|c.127+44C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 18293422 . C T . . ANN=T|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|32/32|c.5556+47G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|29/32|c.5556+47G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|31/32|c.5556+47G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|28/32|c.5556+47G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|30/32|c.5556+47G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|28/31|c.5556+47G>A||||||,T|intron_variant|MODIFIER|XXbac-B461K10.4|ENSG00000093100|transcript|ENST00000476405|retained_intron|1/4|n.795+47G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript|2/5|n.3274+47G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding|4/7|c.435+47G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding|3/5|c.321+47G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000584751|protein_coding|1/2|c.33+47G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 18293502 . C T . . ANN=T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|28/32|c.5523G>A|p.Lys1841Lys|5876/9445|5523/6009|1841/2002||,T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding|4/8|c.402G>A|p.Lys134Lys|403/807|402/806|134/267||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding|3/6|c.288G>A|p.Lys96Lys|288/519|288/519|96/172||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|32/32|c.5523G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|29/32|c.5523G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|31/32|c.5523G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|28/32|c.5523G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|30/32|c.5523G>A||||||,T|5_prime_UTR_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000584751|protein_coding|1/3|c.-1G>A|||||1|WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|XXbac-B461K10.4|ENSG00000093100|transcript|ENST00000476405|retained_intron|1/5|n.762G>A||||||,T|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript|2/6|n.3241G>A|||||| 22 18293533 . C T . . ANN=T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|28/32|c.5492G>A|p.Arg1831His|5845/9445|5492/6009|1831/2002||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding|4/8|c.371G>A|p.Arg124His|372/807|371/806|124/267||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding|3/6|c.257G>A|p.Arg86His|257/519|257/519|86/172||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|32/32|c.5492G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|29/32|c.5492G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|31/32|c.5492G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|28/32|c.5492G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|30/32|c.5492G>A||||||,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000584751|protein_coding||c.-2G>A|||||31|WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|XXbac-B461K10.4|ENSG00000093100|transcript|ENST00000476405|retained_intron|1/5|n.731G>A||||||,T|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript|2/6|n.3210G>A|||||| 22 18293565 . C T . . ANN=T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|28/32|c.5460G>A|p.Thr1820Thr|5813/9445|5460/6009|1820/2002||,T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding|4/8|c.339G>A|p.Thr113Thr|340/807|339/806|113/267||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding|3/6|c.225G>A|p.Thr75Thr|225/519|225/519|75/172||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000584751|protein_coding||c.-2G>A|||||63|WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|XXbac-B461K10.4|ENSG00000093100|transcript|ENST00000476405|retained_intron|1/5|n.699G>A||||||,T|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript|2/6|n.3178G>A|||||| 22 18293574 . T C . . ANN=C|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|28/32|c.5451A>G|p.Arg1817Arg|5804/9445|5451/6009|1817/2002||,C|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding|4/8|c.330A>G|p.Arg110Arg|331/807|330/806|110/267||WARNING_TRANSCRIPT_INCOMPLETE,C|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding|3/6|c.216A>G|p.Arg72Arg|216/519|216/519|72/172||WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000584751|protein_coding||c.-2A>G|||||72|WARNING_TRANSCRIPT_NO_START_CODON,C|non_coding_exon_variant|MODIFIER|XXbac-B461K10.4|ENSG00000093100|transcript|ENST00000476405|retained_intron|1/5|n.690A>G||||||,C|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript|2/6|n.3169A>G|||||| 22 18293618 . G A . . ANN=A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000584751|protein_coding||c.-2C>T|||||116|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|27/31|c.5446-39C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript|1/5|n.3164-39C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding|3/7|c.325-39C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding|2/5|c.211-39C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|XXbac-B461K10.4|ENSG00000093100|transcript|ENST00000476405|retained_intron|1/5|n.646C>T|||||| 22 18299495 . G A . . ANN=A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|27/32|c.5406C>T|p.Asp1802Asp|5759/9445|5406/6009|1802/2002||,A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding|2/8|c.234C>T|p.Asp78Asp|235/807|234/806|78/267||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding|2/6|c.171C>T|p.Asp57Asp|171/519|171/519|57/172||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1C>T|||||1060|,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593C>T|||||2293|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569C>T|||||2307|WARNING_TRANSCRIPT_INCOMPLETE 22 18300031 . G T . . ANN=T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1C>A|||||1596|,T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593C>A|||||1757|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569C>A|||||1771|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/31|c.5350+46C>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding|1/7|c.178+46C>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding|1/5|c.115+46C>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 18300040 . C A . . ANN=A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1G>T|||||1605|,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593G>T|||||1748|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569G>T|||||1762|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/31|c.5350+37G>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding|1/7|c.178+37G>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding|1/5|c.115+37G>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 18300070 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/31|c.5350+7C>T||||||,A|splice_region_variant&intron_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding|1/7|c.178+7C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|splice_region_variant&intron_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding|1/5|c.115+7C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1C>T|||||1635|,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593C>T|||||1718|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569C>T|||||1732|WARNING_TRANSCRIPT_INCOMPLETE 22 18300089 . C T . . ANN=T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.5338G>A|p.Val1780Ile|5691/9445|5338/6009|1780/2002||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding|1/8|c.166G>A|p.Val56Ile|167/807|166/806|56/267||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding|1/6|c.103G>A|p.Val35Ile|103/519|103/519|35/172||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1G>A|||||1654|,T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593G>A|||||1699|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569G>A|||||1713|WARNING_TRANSCRIPT_INCOMPLETE 22 18300171 . C A . . ANN=A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.5256G>T|p.Lys1752Asn|5609/9445|5256/6009|1752/2002||,A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding|1/8|c.84G>T|p.Lys28Asn|85/807|84/806|28/267||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding|1/6|c.21G>T|p.Lys7Asn|21/519|21/519|7/172||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1G>T|||||1736|,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593G>T|||||1617|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569G>T|||||1631|WARNING_TRANSCRIPT_INCOMPLETE 22 18300200 . C A . . ANN=A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.5227G>T|p.Val1743Phe|5580/9445|5227/6009|1743/2002||,A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding|1/8|c.55G>T|p.Val19Phe|56/807|55/806|19/267||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1G>T|||||1765|,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1G>T|||||9|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593G>T|||||1588|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569G>T|||||1602|WARNING_TRANSCRIPT_INCOMPLETE 22 18300201 . G A . . ANN=A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.5226C>T|p.Ser1742Ser|5579/9445|5226/6009|1742/2002||,A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding|1/8|c.54C>T|p.Ser18Ser|55/807|54/806|18/267||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1C>T|||||1766|,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1C>T|||||10|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593C>T|||||1587|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569C>T|||||1601|WARNING_TRANSCRIPT_INCOMPLETE 22 18300240 . T C . . ANN=C|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.5187A>G|p.Leu1729Leu|5540/9445|5187/6009|1729/2002||,C|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding|1/8|c.15A>G|p.Leu5Leu|16/807|15/806|5/267||WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1A>G|||||1805|,C|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1A>G|||||49|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593A>G|||||1548|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569A>G|||||1562|WARNING_TRANSCRIPT_INCOMPLETE 22 18300264 . C T . . ANN=T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.5163G>A|p.Pro1721Pro|5516/9445|5163/6009|1721/2002||,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1G>A|||||1829|,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2G>A|||||9|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1G>A|||||73|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593G>A|||||1524|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569G>A|||||1538|WARNING_TRANSCRIPT_INCOMPLETE 22 18300277 . T A . . ANN=A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.5150A>T|p.Glu1717Val|5503/9445|5150/6009|1717/2002||,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1A>T|||||1842|,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2A>T|||||22|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1A>T|||||86|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593A>T|||||1511|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569A>T|||||1525|WARNING_TRANSCRIPT_INCOMPLETE 22 18300311 . G A . . ANN=A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.5116C>T|p.Arg1706Cys|5469/9445|5116/6009|1706/2002||,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1C>T|||||1876|,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2C>T|||||56|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1C>T|||||120|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593C>T|||||1477|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569C>T|||||1491|WARNING_TRANSCRIPT_INCOMPLETE 22 18300348 . A G . . ANN=G|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.5079T>C|p.Ser1693Ser|5432/9445|5079/6009|1693/2002||,G|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1T>C|||||1913|,G|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2T>C|||||93|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1T>C|||||157|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593T>C|||||1440|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569T>C|||||1454|WARNING_TRANSCRIPT_INCOMPLETE 22 18300420 . G A . . ANN=A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.5007C>T|p.Ser1669Ser|5360/9445|5007/6009|1669/2002||,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1C>T|||||1985|,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2C>T|||||165|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1C>T|||||229|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593C>T|||||1368|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569C>T|||||1382|WARNING_TRANSCRIPT_INCOMPLETE 22 18300470 . G T . . ANN=T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.4957C>A|p.Pro1653Thr|5310/9445|4957/6009|1653/2002||,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1C>A|||||2035|,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2C>A|||||215|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1C>A|||||279|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593C>A|||||1318|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569C>A|||||1332|WARNING_TRANSCRIPT_INCOMPLETE 22 18300491 . G A . . ANN=A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.4936C>T|p.Arg1646Trp|5289/9445|4936/6009|1646/2002||,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1C>T|||||2056|,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2C>T|||||236|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1C>T|||||300|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593C>T|||||1297|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569C>T|||||1311|WARNING_TRANSCRIPT_INCOMPLETE 22 18300594 . G A . . ANN=A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.4833C>T|p.Asp1611Asp|5186/9445|4833/6009|1611/2002||,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1C>T|||||2159|,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2C>T|||||339|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1C>T|||||403|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593C>T|||||1194|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569C>T|||||1208|WARNING_TRANSCRIPT_INCOMPLETE 22 18300610 . C A . . ANN=A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.4817G>T|p.Ser1606Ile|5170/9445|4817/6009|1606/2002||,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1G>T|||||2175|,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2G>T|||||355|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1G>T|||||419|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593G>T|||||1178|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569G>T|||||1192|WARNING_TRANSCRIPT_INCOMPLETE 22 18300637 . A T . . ANN=T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.4790T>A|p.Met1597Lys|5143/9445|4790/6009|1597/2002||,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1T>A|||||2202|,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2T>A|||||382|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1T>A|||||446|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593T>A|||||1151|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569T>A|||||1165|WARNING_TRANSCRIPT_INCOMPLETE 22 18300641 . G A . . ANN=A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.4786C>T|p.Arg1596Cys|5139/9445|4786/6009|1596/2002||,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1C>T|||||2206|,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2C>T|||||386|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1C>T|||||450|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593C>T|||||1147|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569C>T|||||1161|WARNING_TRANSCRIPT_INCOMPLETE 22 18300705 . C T . . ANN=T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.4722G>A|p.Thr1574Thr|5075/9445|4722/6009|1574/2002||,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1G>A|||||2270|,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2G>A|||||450|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1G>A|||||514|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593G>A|||||1083|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569G>A|||||1097|WARNING_TRANSCRIPT_INCOMPLETE 22 18300724 . A G . . ANN=G|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.4703T>C|p.Leu1568Pro|5056/9445|4703/6009|1568/2002||,G|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1T>C|||||2289|,G|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2T>C|||||469|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1T>C|||||533|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593T>C|||||1064|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569T>C|||||1078|WARNING_TRANSCRIPT_INCOMPLETE 22 18300775 . G A . . ANN=A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.4652C>T|p.Pro1551Leu|5005/9445|4652/6009|1551/2002||,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1C>T|||||2340|,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2C>T|||||520|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1C>T|||||584|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593C>T|||||1013|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569C>T|||||1027|WARNING_TRANSCRIPT_INCOMPLETE 22 18300793 . G A . . ANN=A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.4634C>T|p.Thr1545Met|4987/9445|4634/6009|1545/2002||,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1C>T|||||2358|,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2C>T|||||538|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1C>T|||||602|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593C>T|||||995|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569C>T|||||1009|WARNING_TRANSCRIPT_INCOMPLETE 22 18300844 . T C . . ANN=C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.4583A>G|p.Asp1528Gly|4936/9445|4583/6009|1528/2002||,C|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1A>G|||||2409|,C|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2A>G|||||589|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1A>G|||||653|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593A>G|||||944|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569A>G|||||958|WARNING_TRANSCRIPT_INCOMPLETE 22 18300879 . G A . . ANN=A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.4548C>T|p.Ser1516Ser|4901/9445|4548/6009|1516/2002||,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1C>T|||||2444|,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2C>T|||||624|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1C>T|||||688|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593C>T|||||909|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569C>T|||||923|WARNING_TRANSCRIPT_INCOMPLETE 22 18300940 . C T . . ANN=T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.4487G>A|p.Arg1496Gln|4840/9445|4487/6009|1496/2002||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|25/32|c.4487G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|24/32|c.4487G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|26/32|c.4487G>A||||||,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1G>A|||||2505|,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2G>A|||||685|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1G>A|||||749|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593G>A|||||848|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569G>A|||||862|WARNING_TRANSCRIPT_INCOMPLETE 22 18300954 . G A . . ANN=A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.4473C>T|p.Pro1491Pro|4826/9445|4473/6009|1491/2002||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|25/32|c.4473C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|24/32|c.4473C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|26/32|c.4473C>T||||||,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1C>T|||||2519|,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2C>T|||||699|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1C>T|||||763|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593C>T|||||834|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569C>T|||||848|WARNING_TRANSCRIPT_INCOMPLETE 22 18301084 . G A . . ANN=A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.4343C>T|p.Ser1448Leu|4696/9445|4343/6009|1448/2002||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|25/32|c.4343C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|24/32|c.4343C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|26/32|c.4343C>T||||||,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1C>T|||||2649|,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2C>T|||||829|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1C>T|||||893|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593C>T|||||704|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569C>T|||||718|WARNING_TRANSCRIPT_INCOMPLETE,A|TF_binding_site_variant|MODIFIER|||Nrsf|MA0138.2|||||||||,A|TF_binding_site_variant|MODIFIER|||Nrsf|MA0138.1||||||||| 22 18301137 . C T . . ANN=T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.4290G>A|p.Leu1430Leu|4643/9445|4290/6009|1430/2002||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|25/32|c.4290G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|24/32|c.4290G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|26/32|c.4290G>A||||||,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1G>A|||||2702|,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2G>A|||||882|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1G>A|||||946|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593G>A|||||651|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569G>A|||||665|WARNING_TRANSCRIPT_INCOMPLETE 22 18301172 . G A . . ANN=A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.4255C>T|p.Arg1419Cys|4608/9445|4255/6009|1419/2002||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|25/32|c.4255C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|24/32|c.4255C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|26/32|c.4255C>T||||||,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1C>T|||||2737|,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2C>T|||||917|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1C>T|||||981|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593C>T|||||616|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569C>T|||||630|WARNING_TRANSCRIPT_INCOMPLETE 22 18301186 . C T . . ANN=T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.4241G>A|p.Ser1414Asn|4594/9445|4241/6009|1414/2002||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|25/32|c.4241G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|24/32|c.4241G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|26/32|c.4241G>A||||||,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1G>A|||||2751|,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2G>A|||||931|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1G>A|||||995|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593G>A|||||602|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569G>A|||||616|WARNING_TRANSCRIPT_INCOMPLETE 22 18301190 . G A . . ANN=A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.4237C>T|p.Arg1413Cys|4590/9445|4237/6009|1413/2002||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|25/32|c.4237C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|24/32|c.4237C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|26/32|c.4237C>T||||||,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1C>T|||||2755|,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2C>T|||||935|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1C>T|||||999|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593C>T|||||598|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569C>T|||||612|WARNING_TRANSCRIPT_INCOMPLETE 22 18301238 . C T . . ANN=T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.4189G>A|p.Glu1397Lys|4542/9445|4189/6009|1397/2002||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|25/32|c.4189G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|24/32|c.4189G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|26/32|c.4189G>A||||||,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1G>A|||||2803|,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2G>A|||||983|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1G>A|||||1047|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593G>A|||||550|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569G>A|||||564|WARNING_TRANSCRIPT_INCOMPLETE 22 18301272 . G A . . ANN=A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.4155C>T|p.Ile1385Ile|4508/9445|4155/6009|1385/2002||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|25/32|c.4155C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|24/32|c.4155C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|26/32|c.4155C>T||||||,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1C>T|||||2837|,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2C>T|||||1017|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1C>T|||||1081|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593C>T|||||516|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569C>T|||||530|WARNING_TRANSCRIPT_INCOMPLETE 22 18301314 . G T . . ANN=T|sequence_feature|MODERATE|MICAL3|ENSG00000243156|amino_acid_modification:Phosphoserine|ENST00000441493|protein_coding|26/32|c.4113C>A||||||,T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.4113C>A|p.Ser1371Ser|4466/9445|4113/6009|1371/2002||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|25/32|c.4113C>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|24/32|c.4113C>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|26/32|c.4113C>A||||||,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1C>A|||||2879|,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2C>A|||||1059|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1C>A|||||1123|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593C>A|||||474|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569C>A|||||488|WARNING_TRANSCRIPT_INCOMPLETE 22 18301508 . T C . . ANN=C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.3919A>G|p.Arg1307Gly|4272/9445|3919/6009|1307/2002||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|25/32|c.3919A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|24/32|c.3919A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|26/32|c.3919A>G||||||,C|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1A>G|||||3073|,C|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2A>G|||||1253|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1A>G|||||1317|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593A>G|||||280|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569A>G|||||294|WARNING_TRANSCRIPT_INCOMPLETE 22 18301569 . C T . . ANN=T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.3858G>A|p.Pro1286Pro|4211/9445|3858/6009|1286/2002||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|25/32|c.3858G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|24/32|c.3858G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|26/32|c.3858G>A||||||,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1G>A|||||3134|,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2G>A|||||1314|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1G>A|||||1378|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593G>A|||||219|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569G>A|||||233|WARNING_TRANSCRIPT_INCOMPLETE 22 18301570 . G A . . ANN=A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.3857C>T|p.Pro1286Leu|4210/9445|3857/6009|1286/2002||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|25/32|c.3857C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|24/32|c.3857C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|26/32|c.3857C>T||||||,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1C>T|||||3135|,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2C>T|||||1315|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1C>T|||||1379|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593C>T|||||218|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569C>T|||||232|WARNING_TRANSCRIPT_INCOMPLETE 22 18301600 . G A . . ANN=A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.3827C>T|p.Thr1276Ile|4180/9445|3827/6009|1276/2002||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|25/32|c.3827C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|24/32|c.3827C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|26/32|c.3827C>T||||||,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1C>T|||||3165|,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2C>T|||||1345|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1C>T|||||1409|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593C>T|||||188|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569C>T|||||202|WARNING_TRANSCRIPT_INCOMPLETE 22 18301666 . G A . . ANN=A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.3761C>T|p.Pro1254Leu|4114/9445|3761/6009|1254/2002||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|25/32|c.3761C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|24/32|c.3761C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|26/32|c.3761C>T||||||,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1C>T|||||3231|,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2C>T|||||1411|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1C>T|||||1475|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593C>T|||||122|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569C>T|||||136|WARNING_TRANSCRIPT_INCOMPLETE 22 18301674 . G T . . ANN=T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.3753C>A|p.Ser1251Ser|4106/9445|3753/6009|1251/2002||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|25/32|c.3753C>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|24/32|c.3753C>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|26/32|c.3753C>A||||||,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1C>A|||||3239|,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2C>A|||||1419|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1C>A|||||1483|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593C>A|||||114|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569C>A|||||128|WARNING_TRANSCRIPT_INCOMPLETE 22 18301685 . C T . . ANN=T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.3742G>A|p.Val1248Met|4095/9445|3742/6009|1248/2002||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|25/32|c.3742G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|24/32|c.3742G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|26/32|c.3742G>A||||||,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1G>A|||||3250|,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2G>A|||||1430|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1G>A|||||1494|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593G>A|||||103|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569G>A|||||117|WARNING_TRANSCRIPT_INCOMPLETE 22 18301693 . T C . . ANN=C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.3734A>G|p.Gln1245Arg|4087/9445|3734/6009|1245/2002||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|25/32|c.3734A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|24/32|c.3734A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|26/32|c.3734A>G||||||,C|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1A>G|||||3258|,C|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2A>G|||||1438|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1A>G|||||1502|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593A>G|||||95|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569A>G|||||109|WARNING_TRANSCRIPT_INCOMPLETE 22 18301942 . C CG . . ANN=G|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|25/32|c.3532-48dupC||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|24/32|c.3532-48dupC||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|26/32|c.3532-48dupC||||||,G|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1dupC|||||3508|,G|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2dupC|||||1688|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1dupC|||||1752|WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|25/31|c.3532-48dupC||||||,G|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding|4/4|c.484-48dupC||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding|5/5|c.475-48dupC||||||WARNING_TRANSCRIPT_INCOMPLETE 22 18301943 . G A . . ANN=A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|25/32|c.3532-48C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|24/32|c.3532-48C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|26/32|c.3532-48C>T||||||,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1C>T|||||3508|,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2C>T|||||1688|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1C>T|||||1752|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|25/31|c.3532-48C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding|4/4|c.484-48C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding|5/5|c.475-48C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 18304176 . G A . . ANN=A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|25/32|c.3531+17C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|24/32|c.3531+17C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|26/32|c.3531+17C>T||||||,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2C>T|||||3921|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1C>T|||||3985|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|25/31|c.3531+17C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding|4/4|c.483+17C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding|5/5|c.474+17C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 18304751 . C T . . ANN=T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|25/32|c.3448+45G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|24/32|c.3448+45G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|26/32|c.3448+45G>A||||||,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2G>A|||||4496|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1G>A|||||4560|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|24/31|c.3448+45G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding|3/4|c.400+45G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding|4/5|c.391+45G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 18304753 . T C . . ANN=C|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|25/32|c.3448+43A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|24/32|c.3448+43A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|26/32|c.3448+43A>G||||||,C|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2A>G|||||4498|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1A>G|||||4562|WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|24/31|c.3448+43A>G||||||,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding|3/4|c.400+43A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding|4/5|c.391+43A>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 18304784 . A C . . ANN=C|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|25/32|c.3448+12T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|24/32|c.3448+12T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|26/32|c.3448+12T>G||||||,C|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2T>G|||||4529|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1T>G|||||4593|WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|24/31|c.3448+12T>G||||||,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding|3/4|c.400+12T>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding|4/5|c.391+12T>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 18304804 . T C . . ANN=C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|24/32|c.3440A>G|p.Gln1147Arg|3793/9445|3440/6009|1147/2002||,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding|3/5|c.392A>G|p.Gln131Arg|394/593|392/591|131/196||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding|4/6|c.383A>G|p.Gln128Arg|384/569|383/568|128/188||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|25/32|c.3440A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|24/32|c.3440A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|26/32|c.3440A>G||||||,C|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2A>G|||||4549|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1A>G|||||4613|WARNING_TRANSCRIPT_NO_START_CODON 22 18304814 . G C . . ANN=C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|24/32|c.3430C>G|p.Pro1144Ala|3783/9445|3430/6009|1144/2002||,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding|3/5|c.382C>G|p.Pro128Ala|384/593|382/591|128/196||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding|4/6|c.373C>G|p.Pro125Ala|374/569|373/568|125/188||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|25/32|c.3430C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|24/32|c.3430C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|26/32|c.3430C>G||||||,C|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2C>G|||||4559|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1C>G|||||4623|WARNING_TRANSCRIPT_NO_START_CODON 22 18304821 . G A . . ANN=A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|24/32|c.3423C>T|p.Pro1141Pro|3776/9445|3423/6009|1141/2002||,A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding|3/5|c.375C>T|p.Pro125Pro|377/593|375/591|125/196||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding|4/6|c.366C>T|p.Pro122Pro|367/569|366/568|122/188||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|25/32|c.3423C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|24/32|c.3423C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|26/32|c.3423C>T||||||,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2C>T|||||4566|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1C>T|||||4630|WARNING_TRANSCRIPT_NO_START_CODON 22 18304891 . C T . . ANN=T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|24/32|c.3353G>A|p.Arg1118His|3706/9445|3353/6009|1118/2002||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding|3/5|c.305G>A|p.Arg102His|307/593|305/591|102/196||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding|4/6|c.296G>A|p.Arg99His|297/569|296/568|99/188||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|23/32|c.3353G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|24/32|c.3353G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|22/32|c.3353G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|21/32|c.3353G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|20/32|c.3353G>A||||||,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2G>A|||||4636|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1G>A|||||4700|WARNING_TRANSCRIPT_NO_START_CODON 22 18304914 . C T . . ANN=T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|24/32|c.3330G>A|p.Pro1110Pro|3683/9445|3330/6009|1110/2002||,T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding|3/5|c.282G>A|p.Pro94Pro|284/593|282/591|94/196||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding|4/6|c.273G>A|p.Pro91Pro|274/569|273/568|91/188||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|23/32|c.3330G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|24/32|c.3330G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|22/32|c.3330G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|21/32|c.3330G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|20/32|c.3330G>A||||||,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2G>A|||||4659|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1G>A|||||4723|WARNING_TRANSCRIPT_NO_START_CODON 22 18304945 . G A . . ANN=A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|23/32|c.3308-9C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|24/32|c.3308-9C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|22/32|c.3308-9C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|21/32|c.3308-9C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|20/32|c.3308-9C>T||||||,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2C>T|||||4690|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1C>T|||||4754|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|23/31|c.3308-9C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding|2/4|c.260-9C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding|3/5|c.251-9C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 18304978 . G A . . ANN=A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|23/32|c.3308-42C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|24/32|c.3308-42C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|22/32|c.3308-42C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|21/32|c.3308-42C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|20/32|c.3308-42C>T||||||,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2C>T|||||4723|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1C>T|||||4787|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|23/31|c.3308-42C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding|2/4|c.260-42C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding|3/5|c.251-42C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 18305684 . C A . . ANN=A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|23/32|c.3307+29G>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|24/32|c.3307+29G>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|22/32|c.3307+29G>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|21/32|c.3307+29G>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|20/32|c.3307+29G>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|23/31|c.3307+29G>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding|2/4|c.259+29G>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding|3/5|c.250+29G>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 18305777 . G A . . ANN=A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|23/32|c.3243C>T|p.Ala1081Ala|3596/9445|3243/6009|1081/2002||,A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding|2/5|c.195C>T|p.Ala65Ala|197/593|195/591|65/196||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding|3/6|c.186C>T|p.Ala62Ala|187/569|186/568|62/188||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|23/32|c.3243C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|24/32|c.3243C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|22/32|c.3243C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|21/32|c.3243C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|20/32|c.3243C>T|||||| 22 18305797 . C T . . ANN=T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|23/32|c.3223G>A|p.Asp1075Asn|3576/9445|3223/6009|1075/2002||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding|2/5|c.175G>A|p.Asp59Asn|177/593|175/591|59/196||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding|3/6|c.166G>A|p.Asp56Asn|167/569|166/568|56/188||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|23/32|c.3223G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|24/32|c.3223G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|22/32|c.3223G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|21/32|c.3223G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|20/32|c.3223G>A|||||| 22 18310363 . C T . . ANN=T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|23/32|c.3193+47G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|24/32|c.3193+47G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|22/32|c.3193+47G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|21/32|c.3193+47G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|20/32|c.3193+47G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|22/31|c.3193+47G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding|1/4|c.145+4257G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding|1/5|c.74-1081G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 18310367 . T C . . ANN=C|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|23/32|c.3193+43A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|24/32|c.3193+43A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|22/32|c.3193+43A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|21/32|c.3193+43A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|20/32|c.3193+43A>G||||||,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|22/31|c.3193+43A>G||||||,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding|1/4|c.145+4253A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding|1/5|c.74-1085A>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 18310424 . G A . . ANN=A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|22/32|c.3179C>T|p.Ser1060Phe|3532/9445|3179/6009|1060/2002||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|23/32|c.3179C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|24/32|c.3179C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|22/32|c.3179C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|21/32|c.3179C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|20/32|c.3179C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding|1/4|c.145+4196C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding|1/5|c.74-1142C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 18310439 . G A . . ANN=A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|22/32|c.3164C>T|p.Ala1055Val|3517/9445|3164/6009|1055/2002||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|23/32|c.3164C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|24/32|c.3164C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|22/32|c.3164C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|21/32|c.3164C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|20/32|c.3164C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding|1/4|c.145+4181C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding|1/5|c.74-1157C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 18314678 . TTCC T,TTCCTCC . . ANN=TCC|inframe_insertion|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|21/32|c.2991_2993dupGGA|p.Glu998dup|3346/9445|2993/6009|998/2002||,TCC|inframe_insertion|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding|1/5|c.81_83dupGGA|p.Glu28dup|85/593|83/591|28/196||WARNING_TRANSCRIPT_NO_START_CODON,TCC|inframe_insertion|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding|1/6|c.9_11dupGGA|p.Glu4dup|12/569|11/568|4/188||WARNING_TRANSCRIPT_INCOMPLETE,|disruptive_inframe_deletion|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|21/32|c.2994_2996delGGA|p.Glu999del|3349/9445|2994/6009|998/2002||,|disruptive_inframe_deletion|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding|1/5|c.84_86delGGA|p.Glu29del|88/593|84/591|28/196||WARNING_TRANSCRIPT_NO_START_CODON,|disruptive_inframe_deletion|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding|1/6|c.12_14delGGA|p.Glu5del|15/569|12/568|4/188||WARNING_TRANSCRIPT_INCOMPLETE,|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|23/32|c.2994_2996delGGA||||||,|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|24/32|c.2994_2996delGGA||||||,|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|22/32|c.2994_2996delGGA||||||,|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|21/32|c.2994_2996delGGA||||||,|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|20/32|c.2994_2996delGGA||||||,TCC|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|23/32|c.2991_2993dupGGA||||||,TCC|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|24/32|c.2991_2993dupGGA||||||,TCC|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|22/32|c.2991_2993dupGGA||||||,TCC|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|21/32|c.2991_2993dupGGA||||||,TCC|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|20/32|c.2991_2993dupGGA||||||,|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding||c.*2924_*2924delGGA|||||2415|,TCC|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding||c.*2924_*2924dupGGA|||||2412|,|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding||c.*3254_*3254delGGA|||||2425|,TCC|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding||c.*3254_*3254dupGGA|||||2422| 22 18314735 . C T . . ANN=T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|21/32|c.2940G>A|p.Glu980Glu|3293/9445|2940/6009|980/2002||,T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding|1/5|c.30G>A|p.Glu10Glu|32/593|30/591|10/196||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|23/32|c.2940G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|24/32|c.2940G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|22/32|c.2940G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|21/32|c.2940G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|20/32|c.2940G>A||||||,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.-2G>A|||||42|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding||c.*2924G>A|||||2359|,T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding||c.*3254G>A|||||2369| 22 18314810 . T C . . ANN=C|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|21/32|c.2865A>G|p.Pro955Pro|3218/9445|2865/6009|955/2002||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|23/32|c.2865A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|24/32|c.2865A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|22/32|c.2865A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|21/32|c.2865A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|20/32|c.2865A>G||||||,C|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.-3A>G|||||44|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.-2A>G|||||117|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding||c.*2924A>G|||||2284|,C|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding||c.*3254A>G|||||2294| 22 18314815 . G A . . ANN=A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|21/32|c.2860C>T|p.Pro954Ser|3213/9445|2860/6009|954/2002||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|23/32|c.2860C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|24/32|c.2860C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|22/32|c.2860C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|21/32|c.2860C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|20/32|c.2860C>T||||||,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.-3C>T|||||49|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.-2C>T|||||122|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding||c.*2924C>T|||||2279|,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding||c.*3254C>T|||||2289| 22 18324564 . C T . . ANN=T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|20/20|c.2909G>A|p.Arg970His|2909/4756|2909/2931|970/976||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|19/19|c.2825G>A|p.Arg942His|2840/2963|2825/2847|942/948||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|21/21|c.2909G>A|p.Arg970His|3262/3284|2909/2931|970/976||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|23/32|c.2801+24G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|24/32|c.2801+24G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|22/32|c.2801+24G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|21/32|c.2801+24G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|20/32|c.2801+24G>A||||||,T|3_prime_UTR_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|19/19|n.*1716G>A|||||55023|,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|20/31|c.2801+24G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|19/19|c.2801+24G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|20/20|c.2801+24G>A||||||,T|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|19/19|n.*1716G>A||||||,T|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578905|retained_intron|1/1|n.685G>A|||||| 22 18324571 . C T . . ANN=T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|20/20|c.2902G>A|p.Ala968Thr|2902/4756|2902/2931|968/976||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|19/19|c.2818G>A|p.Ala940Thr|2833/2963|2818/2847|940/948||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|21/21|c.2902G>A|p.Ala968Thr|3255/3284|2902/2931|968/976||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|23/32|c.2801+17G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|24/32|c.2801+17G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|22/32|c.2801+17G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|21/32|c.2801+17G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|20/32|c.2801+17G>A||||||,T|3_prime_UTR_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|19/19|n.*1709G>A|||||55016|,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|20/31|c.2801+17G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|19/19|c.2801+17G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|20/20|c.2801+17G>A||||||,T|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|19/19|n.*1709G>A||||||,T|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578905|retained_intron|1/1|n.678G>A|||||| 22 18324626 . G A . . ANN=A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|20/32|c.2763C>T|p.Ser921Ser|3116/9445|2763/6009|921/2002||,A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|19/20|c.2763C>T|p.Ser921Ser|2786/3046|2763/2901|921/966||,A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|20/21|c.2763C>T|p.Ser921Ser|3116/3366|2763/2901|921/966||,A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|20/20|c.2847C>T|p.Ser949Ser|2847/4756|2847/2931|949/976||,A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|19/19|c.2763C>T|p.Ser921Ser|2778/2963|2763/2847|921/948||,A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|21/21|c.2847C>T|p.Ser949Ser|3200/3284|2847/2931|949/976||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|23/32|c.2763C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|24/32|c.2763C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|22/32|c.2763C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|21/32|c.2763C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|20/32|c.2763C>T||||||,A|3_prime_UTR_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|19/19|n.*1654C>T|||||54961|,A|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|19/19|n.*1654C>T||||||,A|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578905|retained_intron|1/1|n.623C>T|||||| 22 18347474 . C T . . ANN=T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|23/23|c.3168G>A|p.Ser1056Ser|3521/8073|3168/3222|1056/1073||,T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding|11/11|c.1434G>A|p.Ser478Ser|1436/5981|1434/1488|478/495||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|22/22|c.3168G>A|p.Ser1056Ser|3230/3323|3168/3222|1056/1073||,T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000462645|processed_transcript||n.*572G>A|||||1216|,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|19/31|c.2605+191G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|18/19|c.2605+191G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|19/20|c.2605+191G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|18/18|n.*1496+191G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|19/19|c.2689+191G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|18/18|c.2605+191G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|20/20|c.2689+191G>A|||||| 22 18347642 . G A . . ANN=A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|23/23|c.3000C>T|p.Gly1000Gly|3353/8073|3000/3222|1000/1073||,A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding|11/11|c.1266C>T|p.Gly422Gly|1268/5981|1266/1488|422/495||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|22/22|c.3000C>T|p.Gly1000Gly|3062/3323|3000/3222|1000/1073||,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000462645|processed_transcript||n.*572C>T|||||1048|,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|19/31|c.2605+23C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|18/19|c.2605+23C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|19/20|c.2605+23C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|18/18|n.*1496+23C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|19/19|c.2689+23C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|18/18|c.2605+23C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|20/20|c.2689+23C>T|||||| 22 18347687 . G C . . ANN=C|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|19/32|c.2583C>G|p.Ala861Ala|2936/9445|2583/6009|861/2002||,C|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|18/20|c.2583C>G|p.Ala861Ala|2606/3046|2583/2901|861/966||,C|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|19/21|c.2583C>G|p.Ala861Ala|2936/3366|2583/2901|861/966||,C|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|19/20|c.2667C>G|p.Ala889Ala|2667/4756|2667/2931|889/976||,C|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|18/19|c.2583C>G|p.Ala861Ala|2598/2963|2583/2847|861/948||,C|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|20/21|c.2667C>G|p.Ala889Ala|3020/3284|2667/2931|889/976||,C|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|23/23|c.2955C>G|p.Ala985Ala|3308/8073|2955/3222|985/1073||,C|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding|11/11|c.1221C>G|p.Ala407Ala|1223/5981|1221/1488|407/495||WARNING_TRANSCRIPT_NO_START_CODON,C|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|22/22|c.2955C>G|p.Ala985Ala|3017/3323|2955/3222|985/1073||,C|3_prime_UTR_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|18/19|n.*1474C>G|||||31900|,C|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000462645|processed_transcript||n.*572C>G|||||1003|,C|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|18/19|n.*1474C>G|||||| 22 18347695 . C T . . ANN=T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|19/32|c.2575G>A|p.Ala859Thr|2928/9445|2575/6009|859/2002||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|18/20|c.2575G>A|p.Ala859Thr|2598/3046|2575/2901|859/966||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|19/21|c.2575G>A|p.Ala859Thr|2928/3366|2575/2901|859/966||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|19/20|c.2659G>A|p.Ala887Thr|2659/4756|2659/2931|887/976||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|18/19|c.2575G>A|p.Ala859Thr|2590/2963|2575/2847|859/948||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|20/21|c.2659G>A|p.Ala887Thr|3012/3284|2659/2931|887/976||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|23/23|c.2947G>A|p.Ala983Thr|3300/8073|2947/3222|983/1073||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding|11/11|c.1213G>A|p.Ala405Thr|1215/5981|1213/1488|405/495||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|22/22|c.2947G>A|p.Ala983Thr|3009/3323|2947/3222|983/1073||,T|3_prime_UTR_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|18/19|n.*1466G>A|||||31892|,T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000462645|processed_transcript||n.*572G>A|||||995|,T|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|18/19|n.*1466G>A|||||| 22 18347707 . C T . . ANN=T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|19/32|c.2563G>A|p.Gly855Arg|2916/9445|2563/6009|855/2002||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|18/20|c.2563G>A|p.Gly855Arg|2586/3046|2563/2901|855/966||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|19/21|c.2563G>A|p.Gly855Arg|2916/3366|2563/2901|855/966||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|19/20|c.2647G>A|p.Gly883Arg|2647/4756|2647/2931|883/976||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|18/19|c.2563G>A|p.Gly855Arg|2578/2963|2563/2847|855/948||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|20/21|c.2647G>A|p.Gly883Arg|3000/3284|2647/2931|883/976||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|23/23|c.2935G>A|p.Gly979Arg|3288/8073|2935/3222|979/1073||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding|11/11|c.1201G>A|p.Gly401Arg|1203/5981|1201/1488|401/495||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|22/22|c.2935G>A|p.Gly979Arg|2997/3323|2935/3222|979/1073||,T|3_prime_UTR_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|18/19|n.*1454G>A|||||31880|,T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000462645|processed_transcript||n.*572G>A|||||983|,T|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|18/19|n.*1454G>A|||||| 22 18347708 . G A . . ANN=A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|19/32|c.2562C>T|p.Asn854Asn|2915/9445|2562/6009|854/2002||,A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|18/20|c.2562C>T|p.Asn854Asn|2585/3046|2562/2901|854/966||,A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|19/21|c.2562C>T|p.Asn854Asn|2915/3366|2562/2901|854/966||,A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|19/20|c.2646C>T|p.Asn882Asn|2646/4756|2646/2931|882/976||,A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|18/19|c.2562C>T|p.Asn854Asn|2577/2963|2562/2847|854/948||,A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|20/21|c.2646C>T|p.Asn882Asn|2999/3284|2646/2931|882/976||,A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|23/23|c.2934C>T|p.Asn978Asn|3287/8073|2934/3222|978/1073||,A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding|11/11|c.1200C>T|p.Asn400Asn|1202/5981|1200/1488|400/495||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|22/22|c.2934C>T|p.Asn978Asn|2996/3323|2934/3222|978/1073||,A|3_prime_UTR_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|18/19|n.*1453C>T|||||31879|,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000462645|processed_transcript||n.*572C>T|||||982|,A|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|18/19|n.*1453C>T|||||| 22 18347784 . C T . . ANN=T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000462645|processed_transcript||n.*572G>A|||||906|,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|18/31|c.2518-32G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|17/19|c.2518-32G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|18/20|c.2518-32G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|17/18|n.*1409-32G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|18/19|c.2602-32G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|17/18|c.2518-32G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|19/20|c.2602-32G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|22/22|c.2890-32G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding|10/10|c.1156-32G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|21/21|c.2890-32G>A|||||| 22 18348650 . C T . . ANN=T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000462645|processed_transcript||n.*572G>A|||||40|,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|18/31|c.2517+40G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|17/19|c.2517+40G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|18/20|c.2517+40G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|17/18|n.*1408+40G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|18/19|c.2601+40G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|17/18|c.2517+40G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|19/20|c.2601+40G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|22/22|c.2889+40G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding|10/10|c.1155+40G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|21/21|c.2889+40G>A|||||| 22 18348823 . G A . . ANN=A|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:LIM_zinc-binding|ENST00000441493|protein_coding|17/32|c.2429-45C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:LIM_zinc-binding|ENST00000441493|protein_coding|18/32|c.2429-45C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:LIM_zinc-binding|ENST00000400561|protein_coding|16/20|c.2429-45C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:LIM_zinc-binding|ENST00000400561|protein_coding|17/20|c.2429-45C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:LIM_zinc-binding|ENST00000383094|protein_coding|16/19|c.2429-45C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:LIM_zinc-binding|ENST00000383094|protein_coding|17/19|c.2429-45C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:LIM_zinc-binding|ENST00000207726|protein_coding|18/21|c.2513-45C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:LIM_zinc-binding|ENST00000207726|protein_coding|19/21|c.2513-45C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:LIM_zinc-binding|ENST00000585038|protein_coding|20/22|c.2801-45C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:LIM_zinc-binding|ENST00000585038|protein_coding|21/22|c.2801-45C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|17/31|c.2429-45C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|16/19|c.2429-45C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|17/20|c.2429-45C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|16/18|n.*1320-45C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|17/19|c.2513-45C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|16/18|c.2429-45C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|18/20|c.2513-45C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|21/22|c.2801-45C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding|9/10|c.1067-45C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|20/21|c.2801-45C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000462645|processed_transcript|2/2|n.484-45C>T|||||| 22 18354582 . C T . . ANN=T|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:LIM_zinc-binding|ENST00000441493|protein_coding|17/32|c.2428+21G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:LIM_zinc-binding|ENST00000441493|protein_coding|18/32|c.2428+21G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:LIM_zinc-binding|ENST00000400561|protein_coding|16/20|c.2428+21G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:LIM_zinc-binding|ENST00000400561|protein_coding|17/20|c.2428+21G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:LIM_zinc-binding|ENST00000383094|protein_coding|16/19|c.2428+21G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:LIM_zinc-binding|ENST00000383094|protein_coding|17/19|c.2428+21G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:LIM_zinc-binding|ENST00000207726|protein_coding|18/21|c.2512+21G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:LIM_zinc-binding|ENST00000207726|protein_coding|19/21|c.2512+21G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:LIM_zinc-binding|ENST00000585038|protein_coding|20/22|c.2800+21G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:LIM_zinc-binding|ENST00000585038|protein_coding|21/22|c.2800+21G>A||||||,T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000465886|processed_transcript||n.*559G>A|||||114|,T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498345|processed_transcript||n.*538G>A|||||118|,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|17/31|c.2428+21G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|16/19|c.2428+21G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|17/20|c.2428+21G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|16/18|n.*1319+21G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|17/19|c.2512+21G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|16/18|c.2428+21G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|18/20|c.2512+21G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|21/22|c.2800+21G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding|9/10|c.1066+21G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|20/21|c.2800+21G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000462645|processed_transcript|2/2|n.483+21G>A|||||| 22 18354637 . C T . . ANN=T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|17/32|c.2394G>A|p.Leu798Leu|2747/9445|2394/6009|798/2002||,T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|16/20|c.2394G>A|p.Leu798Leu|2417/3046|2394/2901|798/966||,T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|17/21|c.2394G>A|p.Leu798Leu|2747/3366|2394/2901|798/966||,T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|17/20|c.2478G>A|p.Leu826Leu|2478/4756|2478/2931|826/976||,T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|16/19|c.2394G>A|p.Leu798Leu|2409/2963|2394/2847|798/948||,T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|18/21|c.2478G>A|p.Leu826Leu|2831/3284|2478/2931|826/976||,T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|21/23|c.2766G>A|p.Leu922Leu|3119/8073|2766/3222|922/1073||,T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding|9/11|c.1032G>A|p.Leu344Leu|1034/5981|1032/1488|344/495||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|20/22|c.2766G>A|p.Leu922Leu|2828/3323|2766/3222|922/1073||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:LIM_zinc-binding|ENST00000441493|protein_coding|17/32|c.2394G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:LIM_zinc-binding|ENST00000441493|protein_coding|18/32|c.2394G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:LIM_zinc-binding|ENST00000400561|protein_coding|16/20|c.2394G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:LIM_zinc-binding|ENST00000400561|protein_coding|17/20|c.2394G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:LIM_zinc-binding|ENST00000383094|protein_coding|16/19|c.2394G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:LIM_zinc-binding|ENST00000383094|protein_coding|17/19|c.2394G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:LIM_zinc-binding|ENST00000207726|protein_coding|18/21|c.2478G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:LIM_zinc-binding|ENST00000207726|protein_coding|19/21|c.2478G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:LIM_zinc-binding|ENST00000585038|protein_coding|20/22|c.2766G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:LIM_zinc-binding|ENST00000585038|protein_coding|21/22|c.2766G>A||||||,T|3_prime_UTR_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|16/19|n.*1285G>A|||||24950|,T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000465886|processed_transcript||n.*559G>A|||||59|,T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498345|processed_transcript||n.*538G>A|||||63|,T|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|16/19|n.*1285G>A||||||,T|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000462645|processed_transcript|2/3|n.449G>A|||||| 22 18354766 . C T . . ANN=T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|17/32|c.2265G>A|p.Pro755Pro|2618/9445|2265/6009|755/2002||,T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|16/20|c.2265G>A|p.Pro755Pro|2288/3046|2265/2901|755/966||,T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|17/21|c.2265G>A|p.Pro755Pro|2618/3366|2265/2901|755/966||,T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|17/20|c.2349G>A|p.Pro783Pro|2349/4756|2349/2931|783/976||,T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|16/19|c.2265G>A|p.Pro755Pro|2280/2963|2265/2847|755/948||,T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|18/21|c.2349G>A|p.Pro783Pro|2702/3284|2349/2931|783/976||,T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|21/23|c.2637G>A|p.Pro879Pro|2990/8073|2637/3222|879/1073||,T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding|9/11|c.903G>A|p.Pro301Pro|905/5981|903/1488|301/495||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|20/22|c.2637G>A|p.Pro879Pro|2699/3323|2637/3222|879/1073||,T|3_prime_UTR_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|16/19|n.*1156G>A|||||24821|,T|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|16/19|n.*1156G>A||||||,T|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000462645|processed_transcript|2/3|n.320G>A||||||,T|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000465886|processed_transcript|2/2|n.489G>A||||||,T|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498345|processed_transcript|3/3|n.472G>A|||||| 22 18354783 . T G . . ANN=G|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|17/32|c.2248A>C|p.Met750Leu|2601/9445|2248/6009|750/2002||,G|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|16/20|c.2248A>C|p.Met750Leu|2271/3046|2248/2901|750/966||,G|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|17/21|c.2248A>C|p.Met750Leu|2601/3366|2248/2901|750/966||,G|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|17/20|c.2332A>C|p.Met778Leu|2332/4756|2332/2931|778/976||,G|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|16/19|c.2248A>C|p.Met750Leu|2263/2963|2248/2847|750/948||,G|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|18/21|c.2332A>C|p.Met778Leu|2685/3284|2332/2931|778/976||,G|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|21/23|c.2620A>C|p.Met874Leu|2973/8073|2620/3222|874/1073||,G|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding|9/11|c.886A>C|p.Met296Leu|888/5981|886/1488|296/495||WARNING_TRANSCRIPT_NO_START_CODON,G|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|20/22|c.2620A>C|p.Met874Leu|2682/3323|2620/3222|874/1073||,G|3_prime_UTR_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|16/19|n.*1139A>C|||||24804|,G|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|16/19|n.*1139A>C||||||,G|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000462645|processed_transcript|2/3|n.303A>C||||||,G|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000465886|processed_transcript|2/2|n.472A>C||||||,G|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498345|processed_transcript|3/3|n.455A>C|||||| 22 18354804 . G A . . ANN=A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|16/31|c.2242-15C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|15/19|c.2242-15C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|16/20|c.2242-15C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|15/18|n.*1133-15C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|16/19|c.2326-15C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|15/18|c.2242-15C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|17/20|c.2326-15C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|20/22|c.2614-15C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding|8/10|c.880-15C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|19/21|c.2614-15C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000462645|processed_transcript|1/2|n.297-15C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000465886|processed_transcript|1/1|n.466-15C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498345|processed_transcript|2/2|n.449-15C>T|||||| 22 18355492 . G A . . ANN=A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|16/31|c.2242-703C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|15/19|c.2242-703C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|16/20|c.2242-703C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|15/18|n.*1133-703C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|16/19|c.2326-703C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|15/18|c.2242-703C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|17/20|c.2326-703C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|20/22|c.2613+21C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding|8/10|c.880-703C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|19/21|c.2613+21C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000462645|processed_transcript|1/2|n.297-703C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000465886|processed_transcript|1/1|n.466-703C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498345|processed_transcript|2/2|n.449-703C>T|||||| 22 18355576 . C A . . ANN=A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|20/23|c.2550G>T|p.Glu850Asp|2903/8073|2550/3222|850/1073||,A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|19/22|c.2550G>T|p.Glu850Asp|2612/3323|2550/3222|850/1073||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|16/31|c.2242-787G>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|15/19|c.2242-787G>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|16/20|c.2242-787G>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|15/18|n.*1133-787G>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|16/19|c.2326-787G>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|15/18|c.2242-787G>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|17/20|c.2326-787G>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding|8/10|c.880-787G>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000462645|processed_transcript|1/2|n.297-787G>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000465886|processed_transcript|1/1|n.466-787G>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498345|processed_transcript|2/2|n.449-787G>T|||||| 22 18355626 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|19/22|c.2506-6C>T||||||,A|splice_region_variant&intron_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|18/21|c.2506-6C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|16/31|c.2242-837C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|15/19|c.2242-837C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|16/20|c.2242-837C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|15/18|n.*1133-837C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|16/19|c.2326-837C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|15/18|c.2242-837C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|17/20|c.2326-837C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding|8/10|c.880-837C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000462645|processed_transcript|1/2|n.297-837C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000465886|processed_transcript|1/1|n.466-837C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498345|processed_transcript|2/2|n.449-837C>T|||||| 22 18358301 . C T . . ANN=T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|19/23|c.2417G>A|p.Arg806His|2770/8073|2417/3222|806/1073||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|18/22|c.2417G>A|p.Arg806His|2479/3323|2417/3222|806/1073||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|16/31|c.2242-3512G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|15/19|c.2242-3512G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|16/20|c.2242-3512G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|15/18|n.*1133-3512G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|16/19|c.2326-3512G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|15/18|c.2242-3512G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|17/20|c.2326-3512G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding|8/10|c.880-3512G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000462645|processed_transcript|1/2|n.296+873G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000465886|processed_transcript|1/1|n.465+873G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498345|processed_transcript|1/2|n.333-209G>A|||||| 22 18358348 . A G . . ANN=G|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|16/31|c.2242-3559T>C||||||,G|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|15/19|c.2242-3559T>C||||||,G|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|16/20|c.2242-3559T>C||||||,G|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|15/18|n.*1133-3559T>C||||||,G|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|16/19|c.2326-3559T>C||||||,G|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|15/18|c.2242-3559T>C||||||,G|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|17/20|c.2326-3559T>C||||||,G|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|18/22|c.2398-28T>C||||||,G|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding|8/10|c.880-3559T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|17/21|c.2398-28T>C||||||,G|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000462645|processed_transcript|1/2|n.296+826T>C||||||,G|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000465886|processed_transcript|1/1|n.465+826T>C||||||,G|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498345|processed_transcript|1/2|n.333-256T>C|||||| 22 18362064 . G A . . ANN=A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000462645|processed_transcript||n.-1C>T|||||2595|,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000465886|processed_transcript||n.-1C>T|||||2426|,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498345|processed_transcript||n.-1C>T|||||2559|,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|16/31|c.2241+6580C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|15/19|c.2241+6580C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|16/20|c.2241+6580C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|15/18|n.*1132+6580C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|16/19|c.2325+4977C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|15/18|c.2241+6580C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|17/20|c.2325+4977C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|18/22|c.2397+48C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding|8/10|c.879+4977C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|17/21|c.2397+48C>T|||||| 22 18362093 . C T . . ANN=T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000462645|processed_transcript||n.-1G>A|||||2624|,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000465886|processed_transcript||n.-1G>A|||||2455|,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498345|processed_transcript||n.-1G>A|||||2588|,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|16/31|c.2241+6551G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|15/19|c.2241+6551G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|16/20|c.2241+6551G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|15/18|n.*1132+6551G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|16/19|c.2325+4948G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|15/18|c.2241+6551G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|17/20|c.2325+4948G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|18/22|c.2397+19G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding|8/10|c.879+4948G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|17/21|c.2397+19G>A|||||| 22 18362122 . T C . . ANN=C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|18/23|c.2387A>G|p.His796Arg|2740/8073|2387/3222|796/1073||,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|17/22|c.2387A>G|p.His796Arg|2449/3323|2387/3222|796/1073||,C|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000462645|processed_transcript||n.-1A>G|||||2653|,C|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000465886|processed_transcript||n.-1A>G|||||2484|,C|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498345|processed_transcript||n.-1A>G|||||2617|,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|16/31|c.2241+6522A>G||||||,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|15/19|c.2241+6522A>G||||||,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|16/20|c.2241+6522A>G||||||,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|15/18|n.*1132+6522A>G||||||,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|16/19|c.2325+4919A>G||||||,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|15/18|c.2241+6522A>G||||||,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|17/20|c.2325+4919A>G||||||,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding|8/10|c.879+4919A>G||||||WARNING_TRANSCRIPT_NO_START_CODON 22 18362128 . C T . . ANN=T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|18/23|c.2381G>A|p.Ser794Asn|2734/8073|2381/3222|794/1073||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|17/22|c.2381G>A|p.Ser794Asn|2443/3323|2381/3222|794/1073||,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000462645|processed_transcript||n.-1G>A|||||2659|,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000465886|processed_transcript||n.-1G>A|||||2490|,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498345|processed_transcript||n.-1G>A|||||2623|,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|16/31|c.2241+6516G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|15/19|c.2241+6516G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|16/20|c.2241+6516G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|15/18|n.*1132+6516G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|16/19|c.2325+4913G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|15/18|c.2241+6516G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|17/20|c.2325+4913G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding|8/10|c.879+4913G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 18362142 . G A . . ANN=A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|18/23|c.2367C>T|p.Asn789Asn|2720/8073|2367/3222|789/1073||,A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|17/22|c.2367C>T|p.Asn789Asn|2429/3323|2367/3222|789/1073||,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000462645|processed_transcript||n.-1C>T|||||2673|,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000465886|processed_transcript||n.-1C>T|||||2504|,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498345|processed_transcript||n.-1C>T|||||2637|,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|16/31|c.2241+6502C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|15/19|c.2241+6502C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|16/20|c.2241+6502C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|15/18|n.*1132+6502C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|16/19|c.2325+4899C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|15/18|c.2241+6502C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|17/20|c.2325+4899C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding|8/10|c.879+4899C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 18362200 . A C . . ANN=C|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000462645|processed_transcript||n.-1T>G|||||2731|,C|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000465886|processed_transcript||n.-1T>G|||||2562|,C|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498345|processed_transcript||n.-1T>G|||||2695|,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|16/31|c.2241+6444T>G||||||,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|15/19|c.2241+6444T>G||||||,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|16/20|c.2241+6444T>G||||||,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|15/18|n.*1132+6444T>G||||||,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|16/19|c.2325+4841T>G||||||,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|15/18|c.2241+6444T>G||||||,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|17/20|c.2325+4841T>G||||||,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|17/22|c.2341-32T>G||||||,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding|8/10|c.879+4841T>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|16/21|c.2341-32T>G|||||| 22 18363935 . C CA . . ANN=A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000462645|processed_transcript||n.-1dupT|||||4467|,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000465886|processed_transcript||n.-1dupT|||||4298|,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498345|processed_transcript||n.-1dupT|||||4431|,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|16/31|c.2241+4708dupT||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|15/19|c.2241+4708dupT||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|16/20|c.2241+4708dupT||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|15/18|n.*1132+4708dupT||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|16/19|c.2325+3105dupT||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|15/18|c.2241+4708dupT||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|17/20|c.2325+3105dupT||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|17/22|c.2340+35dupT||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding|8/10|c.879+3105dupT||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|16/21|c.2340+35dupT|||||| 22 18363980 . G A . . ANN=A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|17/23|c.2331C>T|p.Gly777Gly|2684/8073|2331/3222|777/1073||,A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|16/22|c.2331C>T|p.Gly777Gly|2393/3323|2331/3222|777/1073||,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000462645|processed_transcript||n.-1C>T|||||4511|,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000465886|processed_transcript||n.-1C>T|||||4342|,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498345|processed_transcript||n.-1C>T|||||4475|,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|16/31|c.2241+4664C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|15/19|c.2241+4664C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|16/20|c.2241+4664C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|15/18|n.*1132+4664C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|16/19|c.2325+3061C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|15/18|c.2241+4664C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|17/20|c.2325+3061C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding|8/10|c.879+3061C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 18368614 . C T . . ANN=T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|16/31|c.2241+30G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|15/19|c.2241+30G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|16/20|c.2241+30G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|15/18|n.*1132+30G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|15/19|c.2241+30G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|15/18|c.2241+30G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|16/20|c.2241+30G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|16/22|c.2241+30G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding|7/10|c.795+30G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|15/21|c.2241+30G>A|||||| 22 18368615 . G A . . ANN=A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|16/31|c.2241+29C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|15/19|c.2241+29C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|16/20|c.2241+29C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|15/18|n.*1132+29C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|15/19|c.2241+29C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|15/18|c.2241+29C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|16/20|c.2241+29C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|16/22|c.2241+29C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding|7/10|c.795+29C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|15/21|c.2241+29C>T|||||| 22 18368793 . C T . . ANN=T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|16/32|c.2092G>A|p.Gly698Arg|2445/9445|2092/6009|698/2002||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|15/20|c.2092G>A|p.Gly698Arg|2115/3046|2092/2901|698/966||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|16/21|c.2092G>A|p.Gly698Arg|2445/3366|2092/2901|698/966||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|15/20|c.2092G>A|p.Gly698Arg|2092/4756|2092/2931|698/976||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|15/19|c.2092G>A|p.Gly698Arg|2107/2963|2092/2847|698/948||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|16/21|c.2092G>A|p.Gly698Arg|2445/3284|2092/2931|698/976||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|16/23|c.2092G>A|p.Gly698Arg|2445/8073|2092/3222|698/1073||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding|7/11|c.646G>A|p.Gly216Arg|648/5981|646/1488|216/495||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|15/22|c.2092G>A|p.Gly698Arg|2154/3323|2092/3222|698/1073||,T|3_prime_UTR_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|15/19|n.*983G>A|||||10794|,T|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|15/19|n.*983G>A|||||| 22 18368805 . G A . . ANN=A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|16/32|c.2080C>T|p.Arg694Trp|2433/9445|2080/6009|694/2002||,A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|15/20|c.2080C>T|p.Arg694Trp|2103/3046|2080/2901|694/966||,A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|16/21|c.2080C>T|p.Arg694Trp|2433/3366|2080/2901|694/966||,A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|15/20|c.2080C>T|p.Arg694Trp|2080/4756|2080/2931|694/976||,A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|15/19|c.2080C>T|p.Arg694Trp|2095/2963|2080/2847|694/948||,A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|16/21|c.2080C>T|p.Arg694Trp|2433/3284|2080/2931|694/976||,A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|16/23|c.2080C>T|p.Arg694Trp|2433/8073|2080/3222|694/1073||,A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding|7/11|c.634C>T|p.Arg212Trp|636/5981|634/1488|212/495||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|15/22|c.2080C>T|p.Arg694Trp|2142/3323|2080/3222|694/1073||,A|3_prime_UTR_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|15/19|n.*971C>T|||||10782|,A|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|15/19|n.*971C>T|||||| 22 18369892 . C T . . ANN=T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Poly-Glu|ENST00000441493|protein_coding|16/32|c.2067+44G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Poly-Glu|ENST00000441493|protein_coding|15/32|c.2067+44G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Poly-Glu|ENST00000400561|protein_coding|15/20|c.2067+44G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Poly-Glu|ENST00000400561|protein_coding|14/20|c.2067+44G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Poly-Glu|ENST00000383094|protein_coding|15/19|c.2067+44G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Poly-Glu|ENST00000383094|protein_coding|14/19|c.2067+44G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Poly-Glu|ENST00000207726|protein_coding|16/21|c.2067+44G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Poly-Glu|ENST00000207726|protein_coding|15/21|c.2067+44G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Poly-Glu|ENST00000585038|protein_coding|15/22|c.2067+44G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Poly-Glu|ENST00000585038|protein_coding|14/22|c.2067+44G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|15/31|c.2067+44G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|14/19|c.2067+44G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|15/20|c.2067+44G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|14/18|n.*958+44G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|14/19|c.2067+44G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|14/18|c.2067+44G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|15/20|c.2067+44G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|15/22|c.2067+44G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding|6/10|c.621+44G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|14/21|c.2067+44G>A|||||| 22 18369916 . A G . . ANN=G|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Poly-Glu|ENST00000441493|protein_coding|16/32|c.2067+20T>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Poly-Glu|ENST00000441493|protein_coding|15/32|c.2067+20T>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Poly-Glu|ENST00000400561|protein_coding|15/20|c.2067+20T>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Poly-Glu|ENST00000400561|protein_coding|14/20|c.2067+20T>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Poly-Glu|ENST00000383094|protein_coding|15/19|c.2067+20T>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Poly-Glu|ENST00000383094|protein_coding|14/19|c.2067+20T>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Poly-Glu|ENST00000207726|protein_coding|16/21|c.2067+20T>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Poly-Glu|ENST00000207726|protein_coding|15/21|c.2067+20T>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Poly-Glu|ENST00000585038|protein_coding|15/22|c.2067+20T>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Poly-Glu|ENST00000585038|protein_coding|14/22|c.2067+20T>C||||||,G|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|15/31|c.2067+20T>C||||||,G|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|14/19|c.2067+20T>C||||||,G|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|15/20|c.2067+20T>C||||||,G|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|14/18|n.*958+20T>C||||||,G|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|14/19|c.2067+20T>C||||||,G|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|14/18|c.2067+20T>C||||||,G|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|15/20|c.2067+20T>C||||||,G|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|15/22|c.2067+20T>C||||||,G|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding|6/10|c.621+20T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|14/21|c.2067+20T>C|||||| 22 18369986 . T C . . ANN=C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|15/32|c.2017A>G|p.Lys673Glu|2370/9445|2017/6009|673/2002||,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|14/20|c.2017A>G|p.Lys673Glu|2040/3046|2017/2901|673/966||,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|15/21|c.2017A>G|p.Lys673Glu|2370/3366|2017/2901|673/966||,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|14/20|c.2017A>G|p.Lys673Glu|2017/4756|2017/2931|673/976||,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|14/19|c.2017A>G|p.Lys673Glu|2032/2963|2017/2847|673/948||,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|15/21|c.2017A>G|p.Lys673Glu|2370/3284|2017/2931|673/976||,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|15/23|c.2017A>G|p.Lys673Glu|2370/8073|2017/3222|673/1073||,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding|6/11|c.571A>G|p.Lys191Glu|573/5981|571/1488|191/495||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|14/22|c.2017A>G|p.Lys673Glu|2079/3323|2017/3222|673/1073||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|short_sequence_motif:Nuclear_localization_signal|ENST00000441493|protein_coding|15/32|c.2017A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|short_sequence_motif:Nuclear_localization_signal|ENST00000441493|protein_coding|14/32|c.2017A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|short_sequence_motif:Nuclear_localization_signal|ENST00000400561|protein_coding|14/20|c.2017A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|short_sequence_motif:Nuclear_localization_signal|ENST00000400561|protein_coding|13/20|c.2017A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|short_sequence_motif:Nuclear_localization_signal|ENST00000383094|protein_coding|14/19|c.2017A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|short_sequence_motif:Nuclear_localization_signal|ENST00000383094|protein_coding|13/19|c.2017A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|short_sequence_motif:Nuclear_localization_signal|ENST00000207726|protein_coding|15/21|c.2017A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|short_sequence_motif:Nuclear_localization_signal|ENST00000207726|protein_coding|14/21|c.2017A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|short_sequence_motif:Nuclear_localization_signal|ENST00000585038|protein_coding|14/22|c.2017A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|short_sequence_motif:Nuclear_localization_signal|ENST00000585038|protein_coding|13/22|c.2017A>G||||||,C|3_prime_UTR_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|14/19|n.*908A>G|||||9601|,C|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|14/19|n.*908A>G|||||| 22 18370066 . C A . . ANN=A|sequence_feature|LOW|MICAL3|ENSG00000243156|short_sequence_motif:Nuclear_localization_signal|ENST00000441493|protein_coding|15/32|c.2004+23G>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|short_sequence_motif:Nuclear_localization_signal|ENST00000441493|protein_coding|14/32|c.2004+23G>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|short_sequence_motif:Nuclear_localization_signal|ENST00000400561|protein_coding|14/20|c.2004+23G>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|short_sequence_motif:Nuclear_localization_signal|ENST00000400561|protein_coding|13/20|c.2004+23G>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|short_sequence_motif:Nuclear_localization_signal|ENST00000383094|protein_coding|14/19|c.2004+23G>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|short_sequence_motif:Nuclear_localization_signal|ENST00000383094|protein_coding|13/19|c.2004+23G>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|short_sequence_motif:Nuclear_localization_signal|ENST00000207726|protein_coding|15/21|c.2004+23G>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|short_sequence_motif:Nuclear_localization_signal|ENST00000207726|protein_coding|14/21|c.2004+23G>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|short_sequence_motif:Nuclear_localization_signal|ENST00000585038|protein_coding|14/22|c.2004+23G>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|short_sequence_motif:Nuclear_localization_signal|ENST00000585038|protein_coding|13/22|c.2004+23G>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|14/31|c.2004+23G>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|13/19|c.2004+23G>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|14/20|c.2004+23G>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|13/18|n.*895+23G>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|13/19|c.2004+23G>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|13/18|c.2004+23G>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|14/20|c.2004+23G>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|14/22|c.2004+23G>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding|5/10|c.558+23G>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|13/21|c.2004+23G>T|||||| 22 18370182 . G A . . ANN=A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|14/32|c.1911C>T|p.Ala637Ala|2264/9445|1911/6009|637/2002||,A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|13/20|c.1911C>T|p.Ala637Ala|1934/3046|1911/2901|637/966||,A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|14/21|c.1911C>T|p.Ala637Ala|2264/3366|1911/2901|637/966||,A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|13/20|c.1911C>T|p.Ala637Ala|1911/4756|1911/2931|637/976||,A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|13/19|c.1911C>T|p.Ala637Ala|1926/2963|1911/2847|637/948||,A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|14/21|c.1911C>T|p.Ala637Ala|2264/3284|1911/2931|637/976||,A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|14/23|c.1911C>T|p.Ala637Ala|2264/8073|1911/3222|637/1073||,A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding|5/11|c.465C>T|p.Ala155Ala|467/5981|465/1488|155/495||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|13/22|c.1911C>T|p.Ala637Ala|1973/3323|1911/3222|637/1073||,A|3_prime_UTR_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|13/19|n.*802C>T|||||9405|,A|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|13/19|n.*802C>T|||||| 22 18371819 . C T . . ANN=T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|13/32|c.1872G>A|p.Lys624Lys|2225/9445|1872/6009|624/2002||,T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|12/20|c.1872G>A|p.Lys624Lys|1895/3046|1872/2901|624/966||,T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|13/21|c.1872G>A|p.Lys624Lys|2225/3366|1872/2901|624/966||,T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|12/20|c.1872G>A|p.Lys624Lys|1872/4756|1872/2931|624/976||,T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|12/19|c.1872G>A|p.Lys624Lys|1887/2963|1872/2847|624/948||,T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|13/21|c.1872G>A|p.Lys624Lys|2225/3284|1872/2931|624/976||,T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|13/23|c.1872G>A|p.Lys624Lys|2225/8073|1872/3222|624/1073||,T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding|4/11|c.426G>A|p.Lys142Lys|428/5981|426/1488|142/495||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|12/22|c.1872G>A|p.Lys624Lys|1934/3323|1872/3222|624/1073||,T|3_prime_UTR_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|12/19|n.*763G>A|||||7768|,T|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|12/19|n.*763G>A|||||| 22 18371961 . T C . . ANN=C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|13/32|c.1730A>G|p.Lys577Arg|2083/9445|1730/6009|577/2002||,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|12/20|c.1730A>G|p.Lys577Arg|1753/3046|1730/2901|577/966||,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|13/21|c.1730A>G|p.Lys577Arg|2083/3366|1730/2901|577/966||,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|12/20|c.1730A>G|p.Lys577Arg|1730/4756|1730/2931|577/976||,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|12/19|c.1730A>G|p.Lys577Arg|1745/2963|1730/2847|577/948||,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|13/21|c.1730A>G|p.Lys577Arg|2083/3284|1730/2931|577/976||,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|13/23|c.1730A>G|p.Lys577Arg|2083/8073|1730/3222|577/1073||,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding|4/11|c.284A>G|p.Lys95Arg|286/5981|284/1488|95/495||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|12/22|c.1730A>G|p.Lys577Arg|1792/3323|1730/3222|577/1073||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:CH|ENST00000441493|protein_coding|12/32|c.1730A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:CH|ENST00000441493|protein_coding|13/32|c.1730A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|helix|ENST00000441493|protein_coding|13/32|c.1730A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:CH|ENST00000400561|protein_coding|12/20|c.1730A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:CH|ENST00000400561|protein_coding|11/20|c.1730A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|helix|ENST00000400561|protein_coding|12/20|c.1730A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:CH|ENST00000383094|protein_coding|12/19|c.1730A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:CH|ENST00000383094|protein_coding|11/19|c.1730A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|helix|ENST00000383094|protein_coding|12/19|c.1730A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:CH|ENST00000207726|protein_coding|13/21|c.1730A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:CH|ENST00000207726|protein_coding|12/21|c.1730A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|helix|ENST00000207726|protein_coding|13/21|c.1730A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:CH|ENST00000585038|protein_coding|12/22|c.1730A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:CH|ENST00000585038|protein_coding|11/22|c.1730A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|helix|ENST00000585038|protein_coding|12/22|c.1730A>G||||||,C|3_prime_UTR_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|12/19|n.*621A>G|||||7626|,C|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|12/19|n.*621A>G|||||| 22 18372020 . A G . . ANN=G|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:CH|ENST00000441493|protein_coding|12/32|c.1695-24T>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:CH|ENST00000441493|protein_coding|13/32|c.1695-24T>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:CH|ENST00000400561|protein_coding|12/20|c.1695-24T>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:CH|ENST00000400561|protein_coding|11/20|c.1695-24T>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:CH|ENST00000383094|protein_coding|12/19|c.1695-24T>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:CH|ENST00000383094|protein_coding|11/19|c.1695-24T>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:CH|ENST00000207726|protein_coding|13/21|c.1695-24T>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:CH|ENST00000207726|protein_coding|12/21|c.1695-24T>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:CH|ENST00000585038|protein_coding|12/22|c.1695-24T>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:CH|ENST00000585038|protein_coding|11/22|c.1695-24T>C||||||,G|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|12/31|c.1695-24T>C||||||,G|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|11/19|c.1695-24T>C||||||,G|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|12/20|c.1695-24T>C||||||,G|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|11/18|n.*586-24T>C||||||,G|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|11/19|c.1695-24T>C||||||,G|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|11/18|c.1695-24T>C||||||,G|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|12/20|c.1695-24T>C||||||,G|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|12/22|c.1695-24T>C||||||,G|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding|3/10|c.249-24T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|11/21|c.1695-24T>C|||||| 22 18374328 . G A . . ANN=A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|12/32|c.1617C>T|p.Asn539Asn|1970/9445|1617/6009|539/2002||,A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|11/20|c.1617C>T|p.Asn539Asn|1640/3046|1617/2901|539/966||,A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|12/21|c.1617C>T|p.Asn539Asn|1970/3366|1617/2901|539/966||,A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|11/20|c.1617C>T|p.Asn539Asn|1617/4756|1617/2931|539/976||,A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|11/19|c.1617C>T|p.Asn539Asn|1632/2963|1617/2847|539/948||,A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|12/21|c.1617C>T|p.Asn539Asn|1970/3284|1617/2931|539/976||,A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|12/23|c.1617C>T|p.Asn539Asn|1970/8073|1617/3222|539/1073||,A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding|3/11|c.171C>T|p.Asn57Asn|173/5981|171/1488|57/495||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|11/22|c.1617C>T|p.Asn539Asn|1679/3323|1617/3222|539/1073||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:CH|ENST00000441493|protein_coding|12/32|c.1617C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:CH|ENST00000441493|protein_coding|13/32|c.1617C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:CH|ENST00000400561|protein_coding|12/20|c.1617C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:CH|ENST00000400561|protein_coding|11/20|c.1617C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:CH|ENST00000383094|protein_coding|12/19|c.1617C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:CH|ENST00000383094|protein_coding|11/19|c.1617C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:CH|ENST00000207726|protein_coding|13/21|c.1617C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:CH|ENST00000207726|protein_coding|12/21|c.1617C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:CH|ENST00000585038|protein_coding|12/22|c.1617C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:CH|ENST00000585038|protein_coding|11/22|c.1617C>T||||||,A|3_prime_UTR_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|11/19|n.*508C>T|||||5259|,A|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|11/19|n.*508C>T|||||| 22 18376646 . C T . . ANN=T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|11/32|c.1474G>A|p.Glu492Lys|1827/9445|1474/6009|492/2002||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|10/20|c.1474G>A|p.Glu492Lys|1497/3046|1474/2901|492/966||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|11/21|c.1474G>A|p.Glu492Lys|1827/3366|1474/2901|492/966||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|10/20|c.1474G>A|p.Glu492Lys|1474/4756|1474/2931|492/976||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|10/19|c.1474G>A|p.Glu492Lys|1489/2963|1474/2847|492/948||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|11/21|c.1474G>A|p.Glu492Lys|1827/3284|1474/2931|492/976||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|11/23|c.1474G>A|p.Glu492Lys|1827/8073|1474/3222|492/1073||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding|2/11|c.28G>A|p.Glu10Lys|30/5981|28/1488|10/495||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|10/22|c.1474G>A|p.Glu492Lys|1536/3323|1474/3222|492/1073||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|9/32|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|6/32|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|11/32|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|4/32|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|5/32|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|10/32|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|2/32|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|7/32|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|8/32|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|3/32|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|8/20|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|1/20|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|5/20|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|10/20|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|3/20|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|6/20|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|7/20|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|4/20|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|2/20|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|9/20|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|8/19|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|5/19|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|10/19|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|1/19|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|3/19|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|6/19|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|7/19|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|4/19|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|2/19|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|9/19|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|9/21|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|6/21|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|2/21|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|11/21|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|4/21|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|7/21|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|8/21|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|5/21|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|3/21|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|10/21|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|8/22|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|1/22|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|5/22|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|10/22|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|3/22|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|6/22|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|7/22|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|4/22|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|2/22|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|9/22|c.1474G>A||||||,T|3_prime_UTR_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|10/19|n.*365G>A|||||2941|,T|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|10/19|n.*365G>A|||||| 22 18378002 . T C . . ANN=C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|9/32|c.1449+48A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|6/32|c.1449+48A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|11/32|c.1449+48A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|4/32|c.1449+48A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|5/32|c.1449+48A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|10/32|c.1449+48A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|2/32|c.1449+48A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|7/32|c.1449+48A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|8/32|c.1449+48A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|3/32|c.1449+48A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|8/20|c.1449+48A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|1/20|c.1449+48A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|5/20|c.1449+48A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|10/20|c.1449+48A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|3/20|c.1449+48A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|6/20|c.1449+48A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|7/20|c.1449+48A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|4/20|c.1449+48A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|2/20|c.1449+48A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|9/20|c.1449+48A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|8/19|c.1449+48A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|5/19|c.1449+48A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|10/19|c.1449+48A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|1/19|c.1449+48A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|3/19|c.1449+48A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|6/19|c.1449+48A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|7/19|c.1449+48A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|4/19|c.1449+48A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|2/19|c.1449+48A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|9/19|c.1449+48A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|9/21|c.1449+48A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|6/21|c.1449+48A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|2/21|c.1449+48A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|11/21|c.1449+48A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|4/21|c.1449+48A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|7/21|c.1449+48A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|8/21|c.1449+48A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|5/21|c.1449+48A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|3/21|c.1449+48A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|10/21|c.1449+48A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|8/22|c.1449+48A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|1/22|c.1449+48A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|5/22|c.1449+48A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|10/22|c.1449+48A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|3/22|c.1449+48A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|6/22|c.1449+48A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|7/22|c.1449+48A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|4/22|c.1449+48A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|2/22|c.1449+48A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|9/22|c.1449+48A>G||||||,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|10/31|c.1449+48A>G||||||,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|9/19|c.1449+48A>G||||||,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|10/20|c.1449+48A>G||||||,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|9/18|n.*340+48A>G||||||,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|9/19|c.1449+48A>G||||||,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|9/18|c.1449+48A>G||||||,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|10/20|c.1449+48A>G||||||,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|10/22|c.1449+48A>G||||||,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding|1/10|c.3+48A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|9/21|c.1449+48A>G|||||| 22 18378113 . C T . . 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in|ENST00000383094|protein_coding|4/19|c.1386G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|2/19|c.1386G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|9/19|c.1386G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|9/21|c.1386G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|6/21|c.1386G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|2/21|c.1386G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|11/21|c.1386G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|4/21|c.1386G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|7/21|c.1386G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|8/21|c.1386G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|5/21|c.1386G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|3/21|c.1386G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|10/21|c.1386G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|8/22|c.1386G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|1/22|c.1386G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|5/22|c.1386G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|10/22|c.1386G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|3/22|c.1386G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|6/22|c.1386G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|7/22|c.1386G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|4/22|c.1386G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|2/22|c.1386G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|9/22|c.1386G>A||||||,T|3_prime_UTR_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|9/19|n.*277G>A|||||1474|,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding||c.-3G>A|||||59|WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|9/19|n.*277G>A|||||| 22 18378204 . A G . . ANN=G|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|9/32|c.1323-28T>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|6/32|c.1323-28T>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|11/32|c.1323-28T>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|4/32|c.1323-28T>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|5/32|c.1323-28T>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|10/32|c.1323-28T>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|2/32|c.1323-28T>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|7/32|c.1323-28T>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|8/32|c.1323-28T>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|3/32|c.1323-28T>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|8/20|c.1323-28T>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|1/20|c.1323-28T>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|5/20|c.1323-28T>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|10/20|c.1323-28T>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|3/20|c.1323-28T>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|6/20|c.1323-28T>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|7/20|c.1323-28T>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|4/20|c.1323-28T>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|2/20|c.1323-28T>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|9/20|c.1323-28T>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|8/19|c.1323-28T>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|5/19|c.1323-28T>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|10/19|c.1323-28T>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|1/19|c.1323-28T>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|3/19|c.1323-28T>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|6/19|c.1323-28T>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|7/19|c.1323-28T>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|4/19|c.1323-28T>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|2/19|c.1323-28T>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|9/19|c.1323-28T>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|9/21|c.1323-28T>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|6/21|c.1323-28T>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|2/21|c.1323-28T>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|11/21|c.1323-28T>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|4/21|c.1323-28T>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_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22 18379160 . T A . . 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22 18379453 . 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22 18379535 . G A . . ANN=A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|8/32|c.1161C>T|p.Asn387Asn|1514/9445|1161/6009|387/2002||,A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|7/20|c.1161C>T|p.Asn387Asn|1184/3046|1161/2901|387/966||,A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|8/21|c.1161C>T|p.Asn387Asn|1514/3366|1161/2901|387/966||,A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|7/20|c.1161C>T|p.Asn387Asn|1161/4756|1161/2931|387/976||,A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|7/19|c.1161C>T|p.Asn387Asn|1176/2963|1161/2847|387/948||,A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|8/21|c.1161C>T|p.Asn387Asn|1514/3284|1161/2931|387/976||,A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|8/23|c.1161C>T|p.Asn387Asn|1514/8073|1161/3222|387/1073||,A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|7/22|c.1161C>T|p.Asn387Asn|1223/3323|1161/3222|387/1073||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|9/32|c.1161C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|6/32|c.1161C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|11/32|c.1161C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|4/32|c.1161C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|5/32|c.1161C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|10/32|c.1161C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|2/32|c.1161C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|7/32|c.1161C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|8/32|c.1161C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|3/32|c.1161C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|8/20|c.1161C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|1/20|c.1161C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|5/20|c.1161C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|10/20|c.1161C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|3/20|c.1161C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|6/20|c.1161C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|7/20|c.1161C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|4/20|c.1161C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|2/20|c.1161C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|9/20|c.1161C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|8/19|c.1161C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|5/19|c.1161C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|10/19|c.1161C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|1/19|c.1161C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|3/19|c.1161C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|6/19|c.1161C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|7/19|c.1161C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|4/19|c.1161C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|2/19|c.1161C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|9/19|c.1161C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|9/21|c.1161C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|6/21|c.1161C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|2/21|c.1161C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|11/21|c.1161C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|4/21|c.1161C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|7/21|c.1161C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|8/21|c.1161C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|5/21|c.1161C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|3/21|c.1161C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|10/21|c.1161C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|8/22|c.1161C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|1/22|c.1161C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|5/22|c.1161C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|10/22|c.1161C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|3/22|c.1161C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|6/22|c.1161C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|7/22|c.1161C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|4/22|c.1161C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|2/22|c.1161C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|9/22|c.1161C>T||||||,A|3_prime_UTR_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|7/19|n.*52C>T|||||52|,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding||c.-3C>T|||||1481|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|7/19|n.*52C>T|||||| 22 18379640 . C T . . ANN=T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|8/32|c.1056G>A|p.Pro352Pro|1409/9445|1056/6009|352/2002||,T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|7/20|c.1056G>A|p.Pro352Pro|1079/3046|1056/2901|352/966||,T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|8/21|c.1056G>A|p.Pro352Pro|1409/3366|1056/2901|352/966||,T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|7/20|c.1056G>A|p.Pro352Pro|1056/4756|1056/2931|352/976||,T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|7/19|c.1056G>A|p.Pro352Pro|1071/2963|1056/2847|352/948||,T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|8/21|c.1056G>A|p.Pro352Pro|1409/3284|1056/2931|352/976||,T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|8/23|c.1056G>A|p.Pro352Pro|1409/8073|1056/3222|352/1073||,T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|7/22|c.1056G>A|p.Pro352Pro|1118/3323|1056/3222|352/1073||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|9/32|c.1056G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|6/32|c.1056G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|11/32|c.1056G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|4/32|c.1056G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|5/32|c.1056G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|10/32|c.1056G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|2/32|c.1056G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|7/32|c.1056G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|8/32|c.1056G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|3/32|c.1056G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|8/20|c.1056G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|1/20|c.1056G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|5/20|c.1056G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|10/20|c.1056G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|3/20|c.1056G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|6/20|c.1056G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|7/20|c.1056G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|4/20|c.1056G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|2/20|c.1056G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|9/20|c.1056G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|8/19|c.1056G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|5/19|c.1056G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|10/19|c.1056G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|1/19|c.1056G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|3/19|c.1056G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|6/19|c.1056G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|7/19|c.1056G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|4/19|c.1056G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|2/19|c.1056G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|9/19|c.1056G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|9/21|c.1056G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|6/21|c.1056G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|2/21|c.1056G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|11/21|c.1056G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|4/21|c.1056G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|7/21|c.1056G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|8/21|c.1056G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|5/21|c.1056G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|3/21|c.1056G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|10/21|c.1056G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|8/22|c.1056G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|1/22|c.1056G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|5/22|c.1056G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|10/22|c.1056G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|3/22|c.1056G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|6/22|c.1056G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|7/22|c.1056G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|4/22|c.1056G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|2/22|c.1056G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|9/22|c.1056G>A||||||,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding||c.-3G>A|||||1586|WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|7/19|n.955G>A|||||| 22 18379655 . G A . . ANN=A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|8/32|c.1041C>T|p.Thr347Thr|1394/9445|1041/6009|347/2002||,A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|7/20|c.1041C>T|p.Thr347Thr|1064/3046|1041/2901|347/966||,A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|8/21|c.1041C>T|p.Thr347Thr|1394/3366|1041/2901|347/966||,A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|7/20|c.1041C>T|p.Thr347Thr|1041/4756|1041/2931|347/976||,A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|7/19|c.1041C>T|p.Thr347Thr|1056/2963|1041/2847|347/948||,A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|8/21|c.1041C>T|p.Thr347Thr|1394/3284|1041/2931|347/976||,A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|8/23|c.1041C>T|p.Thr347Thr|1394/8073|1041/3222|347/1073||,A|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|7/22|c.1041C>T|p.Thr347Thr|1103/3323|1041/3222|347/1073||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|9/32|c.1041C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|6/32|c.1041C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|11/32|c.1041C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|4/32|c.1041C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|5/32|c.1041C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|10/32|c.1041C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|2/32|c.1041C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|7/32|c.1041C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|8/32|c.1041C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|3/32|c.1041C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|8/20|c.1041C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|1/20|c.1041C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|5/20|c.1041C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|10/20|c.1041C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|3/20|c.1041C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|6/20|c.1041C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|7/20|c.1041C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|4/20|c.1041C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|2/20|c.1041C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|9/20|c.1041C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|8/19|c.1041C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|5/19|c.1041C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|10/19|c.1041C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|1/19|c.1041C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|3/19|c.1041C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|6/19|c.1041C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|7/19|c.1041C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|4/19|c.1041C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|2/19|c.1041C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|9/19|c.1041C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|9/21|c.1041C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|6/21|c.1041C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|2/21|c.1041C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|11/21|c.1041C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|4/21|c.1041C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|7/21|c.1041C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|8/21|c.1041C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|5/21|c.1041C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|3/21|c.1041C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|10/21|c.1041C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|8/22|c.1041C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|1/22|c.1041C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|5/22|c.1041C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|10/22|c.1041C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|3/22|c.1041C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|6/22|c.1041C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|7/22|c.1041C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|4/22|c.1041C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|2/22|c.1041C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|9/22|c.1041C>T||||||,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding||c.-3C>T|||||1601|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|7/19|n.940C>T|||||| 22 18379670 . C T . . ANN=T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|8/32|c.1026G>A|p.Ala342Ala|1379/9445|1026/6009|342/2002||,T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|7/20|c.1026G>A|p.Ala342Ala|1049/3046|1026/2901|342/966||,T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|8/21|c.1026G>A|p.Ala342Ala|1379/3366|1026/2901|342/966||,T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|7/20|c.1026G>A|p.Ala342Ala|1026/4756|1026/2931|342/976||,T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|7/19|c.1026G>A|p.Ala342Ala|1041/2963|1026/2847|342/948||,T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|8/21|c.1026G>A|p.Ala342Ala|1379/3284|1026/2931|342/976||,T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|8/23|c.1026G>A|p.Ala342Ala|1379/8073|1026/3222|342/1073||,T|synonymous_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|7/22|c.1026G>A|p.Ala342Ala|1088/3323|1026/3222|342/1073||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|9/32|c.1026G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|6/32|c.1026G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|11/32|c.1026G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|4/32|c.1026G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|5/32|c.1026G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|10/32|c.1026G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|2/32|c.1026G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|7/32|c.1026G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|8/32|c.1026G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|3/32|c.1026G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|8/20|c.1026G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|1/20|c.1026G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|5/20|c.1026G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|10/20|c.1026G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|3/20|c.1026G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|6/20|c.1026G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|7/20|c.1026G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|4/20|c.1026G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|2/20|c.1026G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|9/20|c.1026G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|8/19|c.1026G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|5/19|c.1026G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|10/19|c.1026G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|1/19|c.1026G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|3/19|c.1026G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|6/19|c.1026G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|7/19|c.1026G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|4/19|c.1026G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|2/19|c.1026G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|9/19|c.1026G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|9/21|c.1026G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|6/21|c.1026G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|2/21|c.1026G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|11/21|c.1026G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|4/21|c.1026G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|7/21|c.1026G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|8/21|c.1026G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|5/21|c.1026G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|3/21|c.1026G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|10/21|c.1026G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|8/22|c.1026G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|1/22|c.1026G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|5/22|c.1026G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|10/22|c.1026G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|3/22|c.1026G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|6/22|c.1026G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|7/22|c.1026G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|4/22|c.1026G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|2/22|c.1026G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|9/22|c.1026G>A||||||,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding||c.-3G>A|||||1616|WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|7/19|n.925G>A|||||| 22 18379796 . A G . . 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22 18382168 . T A . . 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22 18382342 . G T . . 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22 18384625 . G A . . 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22 18385387 . T C . . ANN=C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|9/32|c.589+10A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|6/32|c.589+10A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|11/32|c.589+10A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|4/32|c.589+10A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|5/32|c.589+10A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|10/32|c.589+10A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|2/32|c.589+10A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|7/32|c.589+10A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|8/32|c.589+10A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|3/32|c.589+10A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|8/20|c.589+10A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|1/20|c.589+10A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|5/20|c.589+10A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|10/20|c.589+10A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|3/20|c.589+10A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|6/20|c.589+10A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|7/20|c.589+10A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|4/20|c.589+10A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|2/20|c.589+10A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|9/20|c.589+10A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|8/19|c.589+10A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|5/19|c.589+10A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|10/19|c.589+10A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|1/19|c.589+10A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|3/19|c.589+10A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|6/19|c.589+10A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|7/19|c.589+10A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|4/19|c.589+10A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|2/19|c.589+10A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|9/19|c.589+10A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|9/21|c.589+10A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|6/21|c.589+10A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|2/21|c.589+10A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|11/21|c.589+10A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|4/21|c.589+10A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|7/21|c.589+10A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|8/21|c.589+10A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|5/21|c.589+10A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|3/21|c.589+10A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|10/21|c.589+10A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|8/22|c.589+10A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|1/22|c.589+10A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|5/22|c.589+10A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|10/22|c.589+10A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|3/22|c.589+10A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|6/22|c.589+10A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|7/22|c.589+10A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|4/22|c.589+10A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|2/22|c.589+10A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|9/22|c.589+10A>G||||||,C|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000424046|protein_coding||c.*542A>G|||||2107|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|4/31|c.589+10A>G||||||,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|3/19|c.589+10A>G||||||,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|4/20|c.589+10A>G||||||,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|4/18|n.589+10A>G||||||,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|3/19|c.589+10A>G||||||,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|3/18|c.589+10A>G||||||,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|4/20|c.589+10A>G||||||,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|4/22|c.589+10A>G||||||,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|3/21|c.589+10A>G|||||| 22 18387609 . A C . . ANN=C|splice_region_variant&intron_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|2/31|c.265-4T>G||||||,C|splice_region_variant&intron_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|1/19|c.265-4T>G||||||,C|splice_region_variant&intron_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|2/20|c.265-4T>G||||||,C|splice_region_variant&intron_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|2/18|n.265-4T>G||||||,C|splice_region_variant&intron_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|1/19|c.265-4T>G||||||,C|splice_region_variant&intron_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|1/18|c.265-4T>G||||||,C|splice_region_variant&intron_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|2/20|c.265-4T>G||||||,C|splice_region_variant&intron_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|2/22|c.265-4T>G||||||,C|splice_region_variant&intron_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|1/21|c.265-4T>G||||||,C|splice_region_variant&intron_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000424046|protein_coding|2/2|c.265-4T>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|9/32|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|6/32|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|11/32|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|4/32|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|5/32|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|10/32|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|2/32|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|7/32|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|8/32|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|3/32|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|nucleotide_phosphate-binding_region:FAD|ENST00000441493|protein_coding|2/32|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|nucleotide_phosphate-binding_region:FAD|ENST00000441493|protein_coding|3/32|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|8/20|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|1/20|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|5/20|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|10/20|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|3/20|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|6/20|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|7/20|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|4/20|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|2/20|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|9/20|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|nucleotide_phosphate-binding_region:FAD|ENST00000400561|protein_coding|1/20|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|nucleotide_phosphate-binding_region:FAD|ENST00000400561|protein_coding|2/20|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|8/19|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|5/19|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|10/19|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|1/19|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|3/19|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|6/19|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|7/19|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|4/19|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|2/19|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|9/19|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|nucleotide_phosphate-binding_region:FAD|ENST00000383094|protein_coding|1/19|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|nucleotide_phosphate-binding_region:FAD|ENST00000383094|protein_coding|2/19|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|9/21|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|6/21|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|2/21|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|11/21|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|4/21|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|7/21|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|8/21|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|5/21|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|3/21|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|10/21|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|nucleotide_phosphate-binding_region:FAD|ENST00000207726|protein_coding|2/21|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|nucleotide_phosphate-binding_region:FAD|ENST00000207726|protein_coding|3/21|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|8/22|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|1/22|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|5/22|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|10/22|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|3/22|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|6/22|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|7/22|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|4/22|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|2/22|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|9/22|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|nucleotide_phosphate-binding_region:FAD|ENST00000585038|protein_coding|1/22|c.265-4T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|nucleotide_phosphate-binding_region:FAD|ENST00000585038|protein_coding|2/22|c.265-4T>G|||||| 22 18387612 . A C . . ANN=C|splice_region_variant&intron_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|2/31|c.265-7T>G||||||,C|splice_region_variant&intron_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|1/19|c.265-7T>G||||||,C|splice_region_variant&intron_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|2/20|c.265-7T>G||||||,C|splice_region_variant&intron_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|2/18|n.265-7T>G||||||,C|splice_region_variant&intron_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|1/19|c.265-7T>G||||||,C|splice_region_variant&intron_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|1/18|c.265-7T>G||||||,C|splice_region_variant&intron_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|2/20|c.265-7T>G||||||,C|splice_region_variant&intron_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|2/22|c.265-7T>G||||||,C|splice_region_variant&intron_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|1/21|c.265-7T>G||||||,C|splice_region_variant&intron_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000424046|protein_coding|2/2|c.265-7T>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|9/32|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|6/32|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|11/32|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|4/32|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|5/32|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|10/32|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|2/32|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|7/32|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|8/32|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|3/32|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|nucleotide_phosphate-binding_region:FAD|ENST00000441493|protein_coding|2/32|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|nucleotide_phosphate-binding_region:FAD|ENST00000441493|protein_coding|3/32|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|8/20|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|1/20|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|5/20|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|10/20|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|3/20|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|6/20|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|7/20|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|4/20|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|2/20|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|9/20|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|nucleotide_phosphate-binding_region:FAD|ENST00000400561|protein_coding|1/20|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|nucleotide_phosphate-binding_region:FAD|ENST00000400561|protein_coding|2/20|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|8/19|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|5/19|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|10/19|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|1/19|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|3/19|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|6/19|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|7/19|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|4/19|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|2/19|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|9/19|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|nucleotide_phosphate-binding_region:FAD|ENST00000383094|protein_coding|1/19|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|nucleotide_phosphate-binding_region:FAD|ENST00000383094|protein_coding|2/19|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|9/21|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|6/21|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|2/21|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|11/21|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|4/21|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|7/21|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|8/21|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|5/21|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|3/21|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|10/21|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|nucleotide_phosphate-binding_region:FAD|ENST00000207726|protein_coding|2/21|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|nucleotide_phosphate-binding_region:FAD|ENST00000207726|protein_coding|3/21|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|8/22|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|1/22|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|5/22|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|10/22|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|3/22|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|6/22|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|7/22|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|4/22|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|2/22|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|9/22|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|nucleotide_phosphate-binding_region:FAD|ENST00000585038|protein_coding|1/22|c.265-7T>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|nucleotide_phosphate-binding_region:FAD|ENST00000585038|protein_coding|2/22|c.265-7T>G|||||| 22 18389268 . A G . . 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22 18389316 . T C . . ANN=C|missense_variant&splice_region_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|2/32|c.263A>G|p.Lys88Arg|616/9445|263/6009|88/2002||,C|missense_variant&splice_region_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|1/20|c.263A>G|p.Lys88Arg|286/3046|263/2901|88/966||,C|missense_variant&splice_region_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|2/21|c.263A>G|p.Lys88Arg|616/3366|263/2901|88/966||,C|missense_variant&splice_region_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|1/20|c.263A>G|p.Lys88Arg|263/4756|263/2931|88/976||,C|missense_variant&splice_region_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|1/19|c.263A>G|p.Lys88Arg|278/2963|263/2847|88/948||,C|missense_variant&splice_region_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|2/21|c.263A>G|p.Lys88Arg|616/3284|263/2931|88/976||,C|missense_variant&splice_region_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|2/23|c.263A>G|p.Lys88Arg|616/8073|263/3222|88/1073||,C|missense_variant&splice_region_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|1/22|c.263A>G|p.Lys88Arg|325/3323|263/3222|88/1073||,C|missense_variant&splice_region_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000424046|protein_coding|2/3|c.263A>G|p.Lys88Arg|429/542|263/376|88/124||WARNING_TRANSCRIPT_INCOMPLETE,C|splice_region_variant&non_coding_exon_variant|LOW|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|2/19|n.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|9/32|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|6/32|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|11/32|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|4/32|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|5/32|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|10/32|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|2/32|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|7/32|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|8/32|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|3/32|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|nucleotide_phosphate-binding_region:FAD|ENST00000441493|protein_coding|2/32|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|nucleotide_phosphate-binding_region:FAD|ENST00000441493|protein_coding|3/32|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|8/20|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|1/20|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|5/20|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|10/20|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|3/20|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|6/20|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|7/20|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|4/20|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|2/20|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|9/20|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|nucleotide_phosphate-binding_region:FAD|ENST00000400561|protein_coding|1/20|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|nucleotide_phosphate-binding_region:FAD|ENST00000400561|protein_coding|2/20|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|8/19|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|5/19|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|10/19|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|1/19|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|3/19|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|6/19|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|7/19|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|4/19|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|2/19|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|9/19|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|nucleotide_phosphate-binding_region:FAD|ENST00000383094|protein_coding|1/19|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|nucleotide_phosphate-binding_region:FAD|ENST00000383094|protein_coding|2/19|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|9/21|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|6/21|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|2/21|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|11/21|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|4/21|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|7/21|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|8/21|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|5/21|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|3/21|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|10/21|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|nucleotide_phosphate-binding_region:FAD|ENST00000207726|protein_coding|2/21|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|nucleotide_phosphate-binding_region:FAD|ENST00000207726|protein_coding|3/21|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|8/22|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|1/22|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|5/22|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|10/22|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|3/22|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|6/22|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|7/22|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|4/22|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|2/22|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|9/22|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|nucleotide_phosphate-binding_region:FAD|ENST00000585038|protein_coding|1/22|c.263A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|nucleotide_phosphate-binding_region:FAD|ENST00000585038|protein_coding|2/22|c.263A>G|||||| 22 18389548 . G C . . ANN=C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|2/32|c.31C>G|p.Pro11Ala|384/9445|31/6009|11/2002||,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|1/20|c.31C>G|p.Pro11Ala|54/3046|31/2901|11/966||,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|2/21|c.31C>G|p.Pro11Ala|384/3366|31/2901|11/966||,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|1/20|c.31C>G|p.Pro11Ala|31/4756|31/2931|11/976||,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|1/19|c.31C>G|p.Pro11Ala|46/2963|31/2847|11/948||,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|2/21|c.31C>G|p.Pro11Ala|384/3284|31/2931|11/976||,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|2/23|c.31C>G|p.Pro11Ala|384/8073|31/3222|11/1073||,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|1/22|c.31C>G|p.Pro11Ala|93/3323|31/3222|11/1073||,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000424046|protein_coding|2/3|c.31C>G|p.Pro11Ala|197/542|31/376|11/124||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|9/32|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|6/32|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|11/32|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|4/32|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|5/32|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|10/32|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|2/32|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|7/32|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|8/32|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|3/32|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|8/20|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|1/20|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|5/20|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|10/20|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|3/20|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|6/20|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|7/20|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|4/20|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|2/20|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|9/20|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|8/19|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|5/19|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|10/19|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|1/19|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|3/19|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|6/19|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|7/19|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|4/19|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|2/19|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|9/19|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|9/21|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|6/21|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|2/21|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|11/21|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|4/21|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|7/21|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|8/21|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|5/21|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|3/21|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|10/21|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|8/22|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|1/22|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|5/22|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|10/22|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|3/22|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|6/22|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|7/22|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|4/22|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|2/22|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|9/22|c.31C>G||||||,C|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|2/19|n.31C>G|||||| 22 18389616 . G T . . ANN=T|5_prime_UTR_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|2/32|c.-38C>A|||||38|,T|5_prime_UTR_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|2/21|c.-38C>A|||||38|,T|5_prime_UTR_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|2/19|n.-38C>A|||||38|,T|5_prime_UTR_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|2/21|c.-38C>A|||||38|,T|5_prime_UTR_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|2/23|c.-38C>A|||||38|,T|5_prime_UTR_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|1/22|c.-38C>A|||||38|,T|5_prime_UTR_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000424046|protein_coding|2/3|c.-38C>A|||||38|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding||c.-24C>A|||||15|,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding||c.-1C>A|||||38|,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding||c.-16C>A|||||23|,T|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|2/19|n.-38C>A|||||| 22 18561175 . C T . . ANN=T|synonymous_variant|LOW|PEX26|ENSG00000215193|transcript|ENST00000329627|protein_coding|2/6|c.33C>T|p.Pro11Pro|239/18445|33/918|11/305||,T|synonymous_variant|LOW|PEX26|ENSG00000215193|transcript|ENST00000399744|protein_coding|1/5|c.33C>T|p.Pro11Pro|402/1672|33/918|11/305||,T|synonymous_variant|LOW|PEX26|ENSG00000215193|transcript|ENST00000428061|protein_coding|1/4|c.33C>T|p.Pro11Pro|33/815|33/771|11/256||,T|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|4/5|c.33C>T||||||,T|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|1/5|c.33C>T||||||,T|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|2/5|c.33C>T||||||,T|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|3/5|c.33C>T||||||,T|upstream_gene_variant|MODIFIER|XXbac-B476C20.9|ENSG00000225335|transcript|ENST00000426483|antisense||n.-1G>A|||||612|,T|downstream_gene_variant|MODIFIER|XXbac-B476C20.11|ENSG00000236890|transcript|ENST00000427227|processed_pseudogene||n.*210G>A|||||3057|,T|non_coding_exon_variant|MODIFIER|XXbac-B476C20.9|ENSG00000225335|transcript|ENST00000607927|antisense|1/1|n.476G>A||||||,T|non_coding_exon_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|1/6|n.33C>T|||||| 22 18561272 . C T . . ANN=T|missense_variant|MODERATE|PEX26|ENSG00000215193|transcript|ENST00000329627|protein_coding|2/6|c.130C>T|p.Leu44Phe|336/18445|130/918|44/305||,T|missense_variant|MODERATE|PEX26|ENSG00000215193|transcript|ENST00000399744|protein_coding|1/5|c.130C>T|p.Leu44Phe|499/1672|130/918|44/305||,T|missense_variant|MODERATE|PEX26|ENSG00000215193|transcript|ENST00000428061|protein_coding|1/4|c.130C>T|p.Leu44Phe|130/815|130/771|44/256||,T|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|4/5|c.130C>T||||||,T|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|1/5|c.130C>T||||||,T|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|2/5|c.130C>T||||||,T|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|3/5|c.130C>T||||||,T|upstream_gene_variant|MODIFIER|XXbac-B476C20.9|ENSG00000225335|transcript|ENST00000426483|antisense||n.-1G>A|||||709|,T|downstream_gene_variant|MODIFIER|XXbac-B476C20.11|ENSG00000236890|transcript|ENST00000427227|processed_pseudogene||n.*210G>A|||||2960|,T|non_coding_exon_variant|MODIFIER|XXbac-B476C20.9|ENSG00000225335|transcript|ENST00000607927|antisense|1/1|n.379G>A||||||,T|non_coding_exon_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|1/6|n.130C>T|||||| 22 18562595 . T G . . ANN=G|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|4/5|c.231-45T>G||||||,G|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|1/5|c.231-45T>G||||||,G|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|2/5|c.231-45T>G||||||,G|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|3/5|c.231-45T>G||||||,G|upstream_gene_variant|MODIFIER|XXbac-B476C20.9|ENSG00000225335|transcript|ENST00000607927|antisense||n.-1A>C|||||945|,G|upstream_gene_variant|MODIFIER|XXbac-B476C20.9|ENSG00000225335|transcript|ENST00000426483|antisense||n.-1A>C|||||2032|,G|downstream_gene_variant|MODIFIER|XXbac-B476C20.11|ENSG00000236890|transcript|ENST00000427227|processed_pseudogene||n.*210A>C|||||1637|,G|intron_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000329627|protein_coding|2/5|c.231-45T>G||||||,G|intron_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000399744|protein_coding|1/4|c.231-45T>G||||||,G|intron_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|1/5|n.231-45T>G||||||,G|intron_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000428061|protein_coding|1/3|c.231-45T>G|||||| 22 18562734 . T C . . ANN=C|missense_variant|MODERATE|PEX26|ENSG00000215193|transcript|ENST00000329627|protein_coding|3/6|c.325T>C|p.Tyr109His|531/18445|325/918|109/305||,C|missense_variant|MODERATE|PEX26|ENSG00000215193|transcript|ENST00000399744|protein_coding|2/5|c.325T>C|p.Tyr109His|694/1672|325/918|109/305||,C|missense_variant|MODERATE|PEX26|ENSG00000215193|transcript|ENST00000428061|protein_coding|2/4|c.325T>C|p.Tyr109His|325/815|325/771|109/256||,C|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|4/5|c.325T>C||||||,C|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|1/5|c.325T>C||||||,C|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|2/5|c.325T>C||||||,C|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|3/5|c.325T>C||||||,C|upstream_gene_variant|MODIFIER|XXbac-B476C20.9|ENSG00000225335|transcript|ENST00000607927|antisense||n.-1A>G|||||1084|,C|upstream_gene_variant|MODIFIER|XXbac-B476C20.9|ENSG00000225335|transcript|ENST00000426483|antisense||n.-1A>G|||||2171|,C|downstream_gene_variant|MODIFIER|XXbac-B476C20.11|ENSG00000236890|transcript|ENST00000427227|processed_pseudogene||n.*210A>G|||||1498|,C|non_coding_exon_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|2/6|n.325T>C|||||| 22 18562801 . C G . . ANN=G|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|4/5|c.371+21C>G||||||,G|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|1/5|c.371+21C>G||||||,G|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|2/5|c.371+21C>G||||||,G|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|3/5|c.371+21C>G||||||,G|upstream_gene_variant|MODIFIER|XXbac-B476C20.9|ENSG00000225335|transcript|ENST00000607927|antisense||n.-1G>C|||||1151|,G|upstream_gene_variant|MODIFIER|XXbac-B476C20.9|ENSG00000225335|transcript|ENST00000426483|antisense||n.-1G>C|||||2238|,G|downstream_gene_variant|MODIFIER|XXbac-B476C20.11|ENSG00000236890|transcript|ENST00000427227|processed_pseudogene||n.*210G>C|||||1431|,G|intron_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000329627|protein_coding|3/5|c.371+21C>G||||||,G|intron_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000399744|protein_coding|2/4|c.371+21C>G||||||,G|intron_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|2/5|n.371+21C>G||||||,G|intron_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000428061|protein_coding|2/3|c.371+21C>G|||||| 22 18562822 . A C . . ANN=C|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|4/5|c.371+42A>C||||||,C|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|1/5|c.371+42A>C||||||,C|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|2/5|c.371+42A>C||||||,C|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|3/5|c.371+42A>C||||||,C|upstream_gene_variant|MODIFIER|XXbac-B476C20.9|ENSG00000225335|transcript|ENST00000607927|antisense||n.-1T>G|||||1172|,C|upstream_gene_variant|MODIFIER|XXbac-B476C20.9|ENSG00000225335|transcript|ENST00000426483|antisense||n.-1T>G|||||2259|,C|downstream_gene_variant|MODIFIER|XXbac-B476C20.11|ENSG00000236890|transcript|ENST00000427227|processed_pseudogene||n.*210T>G|||||1410|,C|intron_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000329627|protein_coding|3/5|c.371+42A>C||||||,C|intron_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000399744|protein_coding|2/4|c.371+42A>C||||||,C|intron_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|2/5|n.371+42A>C||||||,C|intron_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000428061|protein_coding|2/3|c.371+42A>C|||||| 22 18566181 . T C . . ANN=C|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|4/5|c.372-22T>C||||||,C|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|1/5|c.372-22T>C||||||,C|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|2/5|c.372-22T>C||||||,C|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|3/5|c.372-22T>C||||||,C|upstream_gene_variant|MODIFIER|XXbac-B476C20.9|ENSG00000225335|transcript|ENST00000607927|antisense||n.-1A>G|||||4531|,C|upstream_gene_variant|MODIFIER|XXbac-B476C20.11|ENSG00000236890|transcript|ENST00000427227|processed_pseudogene||n.-1A>G|||||1740|,C|intron_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000329627|protein_coding|3/5|c.372-22T>C||||||,C|intron_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000399744|protein_coding|2/4|c.372-22T>C||||||,C|intron_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|2/5|n.371+3401T>C||||||,C|intron_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000428061|protein_coding|2/3|c.372-22T>C|||||| 22 18566240 . G C . . ANN=C|missense_variant|MODERATE|PEX26|ENSG00000215193|transcript|ENST00000329627|protein_coding|4/6|c.409G>C|p.Val137Leu|615/18445|409/918|137/305||,C|missense_variant|MODERATE|PEX26|ENSG00000215193|transcript|ENST00000399744|protein_coding|3/5|c.409G>C|p.Val137Leu|778/1672|409/918|137/305||,C|missense_variant|MODERATE|PEX26|ENSG00000215193|transcript|ENST00000428061|protein_coding|3/4|c.409G>C|p.Val137Leu|409/815|409/771|137/256||,C|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|4/5|c.409G>C||||||,C|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|1/5|c.409G>C||||||,C|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|2/5|c.409G>C||||||,C|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|3/5|c.409G>C||||||,C|upstream_gene_variant|MODIFIER|XXbac-B476C20.9|ENSG00000225335|transcript|ENST00000607927|antisense||n.-1C>G|||||4590|,C|upstream_gene_variant|MODIFIER|XXbac-B476C20.11|ENSG00000236890|transcript|ENST00000427227|processed_pseudogene||n.-1C>G|||||1799|,C|intron_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|2/5|n.371+3460G>C|||||| 22 18566288 . C G . . ANN=G|missense_variant|MODERATE|PEX26|ENSG00000215193|transcript|ENST00000329627|protein_coding|4/6|c.457C>G|p.Leu153Val|663/18445|457/918|153/305||,G|missense_variant|MODERATE|PEX26|ENSG00000215193|transcript|ENST00000399744|protein_coding|3/5|c.457C>G|p.Leu153Val|826/1672|457/918|153/305||,G|missense_variant|MODERATE|PEX26|ENSG00000215193|transcript|ENST00000428061|protein_coding|3/4|c.457C>G|p.Leu153Val|457/815|457/771|153/256||,G|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|4/5|c.457C>G||||||,G|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|1/5|c.457C>G||||||,G|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|2/5|c.457C>G||||||,G|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|3/5|c.457C>G||||||,G|upstream_gene_variant|MODIFIER|XXbac-B476C20.9|ENSG00000225335|transcript|ENST00000607927|antisense||n.-1G>C|||||4638|,G|upstream_gene_variant|MODIFIER|XXbac-B476C20.11|ENSG00000236890|transcript|ENST00000427227|processed_pseudogene||n.-1G>C|||||1847|,G|intron_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|2/5|n.371+3508C>G|||||| 22 18566332 . G A . . ANN=A|synonymous_variant|LOW|PEX26|ENSG00000215193|transcript|ENST00000329627|protein_coding|4/6|c.501G>A|p.Val167Val|707/18445|501/918|167/305||,A|synonymous_variant|LOW|PEX26|ENSG00000215193|transcript|ENST00000399744|protein_coding|3/5|c.501G>A|p.Val167Val|870/1672|501/918|167/305||,A|synonymous_variant|LOW|PEX26|ENSG00000215193|transcript|ENST00000428061|protein_coding|3/4|c.501G>A|p.Val167Val|501/815|501/771|167/256||,A|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|4/5|c.501G>A||||||,A|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|1/5|c.501G>A||||||,A|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|2/5|c.501G>A||||||,A|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|3/5|c.501G>A||||||,A|upstream_gene_variant|MODIFIER|XXbac-B476C20.9|ENSG00000225335|transcript|ENST00000607927|antisense||n.-1C>T|||||4682|,A|upstream_gene_variant|MODIFIER|XXbac-B476C20.11|ENSG00000236890|transcript|ENST00000427227|processed_pseudogene||n.-1C>T|||||1891|,A|intron_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|2/5|n.371+3552G>A|||||| 22 18567938 . C T . . ANN=T|missense_variant|MODERATE|PEX26|ENSG00000215193|transcript|ENST00000329627|protein_coding|5/6|c.728C>T|p.Ala243Val|934/18445|728/918|243/305||,T|missense_variant|MODERATE|PEX26|ENSG00000215193|transcript|ENST00000399744|protein_coding|4/5|c.728C>T|p.Ala243Val|1097/1672|728/918|243/305||,T|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|4/5|c.728C>T||||||,T|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|1/5|c.728C>T||||||,T|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|2/5|c.728C>T||||||,T|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|3/5|c.728C>T||||||,T|upstream_gene_variant|MODIFIER|XXbac-B476C20.11|ENSG00000236890|transcript|ENST00000427227|processed_pseudogene||n.-1G>A|||||3497|,T|intron_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|2/5|n.371+5158C>T||||||,T|intron_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000428061|protein_coding|3/3|c.667+1440C>T|||||| 22 18570725 . C T . . ANN=T|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Peroxisomal_matrix|ENST00000399744|protein_coding|4/5|c.815-13C>T||||||,T|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Peroxisomal_matrix|ENST00000399744|protein_coding|5/5|c.815-13C>T||||||,T|intron_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000329627|protein_coding|5/5|c.815-13C>T||||||,T|intron_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000399744|protein_coding|4/4|c.815-13C>T||||||,T|intron_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|2/5|n.371+7945C>T||||||,T|intron_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000428061|protein_coding|3/3|c.668-13C>T|||||| 22 18570774 . C T . . ANN=T|missense_variant|MODERATE|PEX26|ENSG00000215193|transcript|ENST00000329627|protein_coding|6/6|c.851C>T|p.Ala284Val|1057/18445|851/918|284/305||,T|missense_variant|MODERATE|PEX26|ENSG00000215193|transcript|ENST00000399744|protein_coding|5/5|c.851C>T|p.Ala284Val|1220/1672|851/918|284/305||,T|missense_variant|MODERATE|PEX26|ENSG00000215193|transcript|ENST00000428061|protein_coding|4/4|c.704C>T|p.Ala235Val|704/815|704/771|235/256||,T|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Peroxisomal_matrix|ENST00000399744|protein_coding|4/5|c.851C>T||||||,T|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Peroxisomal_matrix|ENST00000399744|protein_coding|5/5|c.851C>T||||||,T|intron_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|2/5|n.371+7994C>T|||||| 22 18570834 . G A . . ANN=A|missense_variant|MODERATE|PEX26|ENSG00000215193|transcript|ENST00000329627|protein_coding|6/6|c.911G>A|p.Arg304His|1117/18445|911/918|304/305||,A|missense_variant|MODERATE|PEX26|ENSG00000215193|transcript|ENST00000399744|protein_coding|5/5|c.911G>A|p.Arg304His|1280/1672|911/918|304/305||,A|missense_variant|MODERATE|PEX26|ENSG00000215193|transcript|ENST00000428061|protein_coding|4/4|c.764G>A|p.Arg255His|764/815|764/771|255/256||,A|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Peroxisomal_matrix|ENST00000399744|protein_coding|4/5|c.911G>A||||||,A|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Peroxisomal_matrix|ENST00000399744|protein_coding|5/5|c.911G>A||||||,A|intron_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|2/5|n.371+8054G>A|||||| 22 18570842 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000329627|protein_coding|6/6|c.*1G>A|||||1|,A|3_prime_UTR_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000399744|protein_coding|5/5|c.*1G>A|||||1|,A|3_prime_UTR_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000428061|protein_coding|4/4|c.*1G>A|||||1|,A|intron_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|2/5|n.371+8062G>A|||||| 22 18570851 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000329627|protein_coding|6/6|c.*10C>T|||||10|,T|3_prime_UTR_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000399744|protein_coding|5/5|c.*10C>T|||||10|,T|3_prime_UTR_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000428061|protein_coding|4/4|c.*10C>T|||||10|,T|intron_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|2/5|n.371+8071C>T|||||| 22 18570877 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000329627|protein_coding|6/6|c.*36G>A|||||36|,A|3_prime_UTR_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000399744|protein_coding|5/5|c.*36G>A|||||36|,A|3_prime_UTR_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000428061|protein_coding|4/4|c.*36G>A|||||36|,A|intron_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|2/5|n.371+8097G>A|||||| 22 18593682 . G A . . ANN=A|intron_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|2/5|n.372-10564G>A||||||,A|intron_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000426208|protein_coding|1/2|c.-196+340G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000316027|protein_coding|1/4|c.-196+77G>A||||||,A|intron_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000330423|protein_coding|1/4|c.3+48G>A|||||| 22 18604207 . C A . . ANN=A|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000416740|protein_coding|1/4|c.37C>A|p.Pro13Thr|334/1700|37/1403|13/466||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|2/5|n.372-39C>A||||||,A|intron_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000426208|protein_coding|1/2|c.-195-39C>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000316027|protein_coding|1/4|c.-195-39C>A||||||,A|intron_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000330423|protein_coding|1/4|c.4-39C>A|||||| 22 18604238 . C T . . ANN=T|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000416740|protein_coding|1/4|c.68C>T|p.Ser23Phe|365/1700|68/1403|23/466||WARNING_TRANSCRIPT_INCOMPLETE,T|splice_region_variant&intron_variant|LOW|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|2/5|n.372-8C>T||||||,T|splice_region_variant&intron_variant|LOW|TUBA8|ENSG00000183785|transcript|ENST00000426208|protein_coding|1/2|c.-195-8C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|splice_region_variant&intron_variant|LOW|TUBA8|ENSG00000183785|transcript|ENST00000316027|protein_coding|1/4|c.-195-8C>T||||||,T|splice_region_variant&intron_variant|LOW|TUBA8|ENSG00000183785|transcript|ENST00000330423|protein_coding|1/4|c.4-8C>T|||||| 22 18604298 . C T . . ANN=T|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000416740|protein_coding|1/4|c.128C>T|p.Ala43Val|425/1700|128/1403|43/466||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000330423|protein_coding|2/5|c.56C>T|p.Ala19Val|129/2018|56/1350|19/449||,T|5_prime_UTR_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000426208|protein_coding|2/3|c.-143C>T|||||143|WARNING_TRANSCRIPT_NO_STOP_CODON,T|5_prime_UTR_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000316027|protein_coding|2/5|c.-143C>T|||||143|,T|non_coding_exon_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|3/6|n.424C>T|||||| 22 18604404 . C T . . ANN=T|synonymous_variant|LOW|TUBA8|ENSG00000183785|transcript|ENST00000416740|protein_coding|1/4|c.234C>T|p.Ser78Ser|531/1700|234/1403|78/466||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|TUBA8|ENSG00000183785|transcript|ENST00000330423|protein_coding|2/5|c.162C>T|p.Ser54Ser|235/2018|162/1350|54/449||,T|5_prime_UTR_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000426208|protein_coding|2/3|c.-37C>T|||||37|WARNING_TRANSCRIPT_NO_STOP_CODON,T|5_prime_UTR_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000316027|protein_coding|2/5|c.-37C>T|||||37|,T|non_coding_exon_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|3/6|n.530C>T|||||| 22 18604513 . T C . . ANN=C|upstream_gene_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000608634|protein_coding||c.-2T>C|||||4961|WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000416740|protein_coding|1/3|c.298+45T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|3/5|n.*24+45T>C||||||,C|intron_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000426208|protein_coding|2/2|c.28+45T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000316027|protein_coding|2/4|c.28+45T>C||||||,C|intron_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000330423|protein_coding|2/4|c.226+45T>C|||||| 22 18606946 . C T . . ANN=T|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000416740|protein_coding|2/4|c.322C>T|p.Arg108Cys|619/1700|322/1403|108/466||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000426208|protein_coding|3/3|c.52C>T|p.Arg18Cys|493/582|52/141|18/46||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000316027|protein_coding|3/5|c.52C>T|p.Arg18Cys|400/1518|52/1152|18/383||,T|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000330423|protein_coding|3/5|c.250C>T|p.Arg84Cys|323/2018|250/1350|84/449||,T|3_prime_UTR_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|4/6|n.*48C>T|||||2502|,T|upstream_gene_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000608634|protein_coding||c.-2C>T|||||2528|WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|4/6|n.*48C>T|||||| 22 18606947 . G A . . ANN=A|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000416740|protein_coding|2/4|c.323G>A|p.Arg108His|620/1700|323/1403|108/466||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000426208|protein_coding|3/3|c.53G>A|p.Arg18His|494/582|53/141|18/46||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000316027|protein_coding|3/5|c.53G>A|p.Arg18His|401/1518|53/1152|18/383||,A|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000330423|protein_coding|3/5|c.251G>A|p.Arg84His|324/2018|251/1350|84/449||,A|3_prime_UTR_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|4/6|n.*49G>A|||||2503|,A|upstream_gene_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000608634|protein_coding||c.-2G>A|||||2527|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|4/6|n.*49G>A|||||| 22 18606978 . A G . . ANN=G|synonymous_variant|LOW|TUBA8|ENSG00000183785|transcript|ENST00000416740|protein_coding|2/4|c.354A>G|p.Thr118Thr|651/1700|354/1403|118/466||WARNING_TRANSCRIPT_INCOMPLETE,G|synonymous_variant|LOW|TUBA8|ENSG00000183785|transcript|ENST00000426208|protein_coding|3/3|c.84A>G|p.Thr28Thr|525/582|84/141|28/46||WARNING_TRANSCRIPT_NO_STOP_CODON,G|synonymous_variant|LOW|TUBA8|ENSG00000183785|transcript|ENST00000316027|protein_coding|3/5|c.84A>G|p.Thr28Thr|432/1518|84/1152|28/383||,G|synonymous_variant|LOW|TUBA8|ENSG00000183785|transcript|ENST00000330423|protein_coding|3/5|c.282A>G|p.Thr94Thr|355/2018|282/1350|94/449||,G|3_prime_UTR_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|4/6|n.*80A>G|||||2534|,G|upstream_gene_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000608634|protein_coding||c.-2A>G|||||2496|WARNING_TRANSCRIPT_NO_START_CODON,G|non_coding_exon_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|4/6|n.*80A>G|||||| 22 18607020 . C T . . ANN=T|synonymous_variant|LOW|TUBA8|ENSG00000183785|transcript|ENST00000416740|protein_coding|2/4|c.396C>T|p.Tyr132Tyr|693/1700|396/1403|132/466||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|TUBA8|ENSG00000183785|transcript|ENST00000426208|protein_coding|3/3|c.126C>T|p.Tyr42Tyr|567/582|126/141|42/46||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|TUBA8|ENSG00000183785|transcript|ENST00000316027|protein_coding|3/5|c.126C>T|p.Tyr42Tyr|474/1518|126/1152|42/383||,T|synonymous_variant|LOW|TUBA8|ENSG00000183785|transcript|ENST00000330423|protein_coding|3/5|c.324C>T|p.Tyr108Tyr|397/2018|324/1350|108/449||,T|3_prime_UTR_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|4/6|n.*122C>T|||||2576|,T|upstream_gene_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000608634|protein_coding||c.-2C>T|||||2454|WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|4/6|n.*122C>T|||||| 22 18607090 . GGGA G . . ANN=|upstream_gene_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000608634|protein_coding||c.-2_-2delGGA|||||2383|WARNING_TRANSCRIPT_NO_START_CODON,|downstream_gene_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000426208|protein_coding||c.*582_*582delGGA|||||56|WARNING_TRANSCRIPT_NO_STOP_CODON,|intron_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000416740|protein_coding|2/3|c.447+20_447+22delGGA||||||WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|4/5|n.*173+20_*173+22delGGA||||||,|intron_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000316027|protein_coding|3/4|c.177+20_177+22delGGA||||||,|intron_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000330423|protein_coding|3/4|c.375+20_375+22delGGA|||||| 22 18607094 . C T . . ANN=T|upstream_gene_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000608634|protein_coding||c.-2C>T|||||2380|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000426208|protein_coding||c.*582C>T|||||59|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000416740|protein_coding|2/3|c.447+23C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|4/5|n.*173+23C>T||||||,T|intron_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000316027|protein_coding|3/4|c.177+23C>T||||||,T|intron_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000330423|protein_coding|3/4|c.375+23C>T|||||| 22 18607120 . G T . . ANN=T|upstream_gene_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000608634|protein_coding||c.-2G>T|||||2354|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000426208|protein_coding||c.*582G>T|||||85|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000416740|protein_coding|2/3|c.447+49G>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|4/5|n.*173+49G>T||||||,T|intron_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000316027|protein_coding|3/4|c.177+49G>T||||||,T|intron_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000330423|protein_coding|3/4|c.375+49G>T|||||| 22 18609080 . A G . . ANN=G|upstream_gene_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000608634|protein_coding||c.-2A>G|||||394|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000426208|protein_coding||c.*582A>G|||||2045|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000416740|protein_coding|2/3|c.448-41A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|4/5|n.*174-41A>G||||||,G|intron_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000316027|protein_coding|3/4|c.178-41A>G||||||,G|intron_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000330423|protein_coding|3/4|c.376-41A>G|||||| 22 18609087 . T C . . ANN=C|upstream_gene_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000608634|protein_coding||c.-2T>C|||||387|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000426208|protein_coding||c.*582T>C|||||2052|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000416740|protein_coding|2/3|c.448-34T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|4/5|n.*174-34T>C||||||,C|intron_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000316027|protein_coding|3/4|c.178-34T>C||||||,C|intron_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000330423|protein_coding|3/4|c.376-34T>C|||||| 22 18609128 . C T . . ANN=T|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000416740|protein_coding|3/4|c.455C>T|p.Ala152Val|752/1700|455/1403|152/466||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000316027|protein_coding|4/5|c.185C>T|p.Ala62Val|533/1518|185/1152|62/383||,T|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000330423|protein_coding|4/5|c.383C>T|p.Ala128Val|456/2018|383/1350|128/449||,T|3_prime_UTR_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|5/6|n.*181C>T|||||4684|,T|upstream_gene_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000608634|protein_coding||c.-2C>T|||||346|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000426208|protein_coding||c.*582C>T|||||2093|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|5/6|n.*181C>T|||||| 22 18609290 . T C . . ANN=C|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000416740|protein_coding|3/4|c.617T>C|p.Val206Ala|914/1700|617/1403|206/466||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000316027|protein_coding|4/5|c.347T>C|p.Val116Ala|695/1518|347/1152|116/383||,C|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000330423|protein_coding|4/5|c.545T>C|p.Val182Ala|618/2018|545/1350|182/449||,C|3_prime_UTR_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|5/6|n.*343T>C|||||4846|,C|upstream_gene_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000608634|protein_coding||c.-2T>C|||||184|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000426208|protein_coding||c.*582T>C|||||2255|WARNING_TRANSCRIPT_NO_STOP_CODON,C|non_coding_exon_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|5/6|n.*343T>C|||||| 22 18609411 . T A . . ANN=A|synonymous_variant|LOW|TUBA8|ENSG00000183785|transcript|ENST00000416740|protein_coding|3/4|c.738T>A|p.Pro246Pro|1035/1700|738/1403|246/466||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|TUBA8|ENSG00000183785|transcript|ENST00000316027|protein_coding|4/5|c.468T>A|p.Pro156Pro|816/1518|468/1152|156/383||,A|synonymous_variant|LOW|TUBA8|ENSG00000183785|transcript|ENST00000330423|protein_coding|4/5|c.666T>A|p.Pro222Pro|739/2018|666/1350|222/449||,A|3_prime_UTR_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|5/6|n.*464T>A|||||4967|,A|upstream_gene_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000608634|protein_coding||c.-2T>A|||||63|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000426208|protein_coding||c.*582T>A|||||2376|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|5/6|n.*464T>A|||||| 22 18609481 . G A . . ANN=A|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000416740|protein_coding|3/4|c.808G>A|p.Gly270Arg|1105/1700|808/1403|270/466||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000316027|protein_coding|4/5|c.538G>A|p.Gly180Arg|886/1518|538/1152|180/383||,A|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000330423|protein_coding|4/5|c.736G>A|p.Gly246Arg|809/2018|736/1350|246/449||,A|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000608634|protein_coding|1/3|c.7G>A|p.Gly3Arg|8/1391|7/825|3/274||WARNING_TRANSCRIPT_NO_START_CODON,A|3_prime_UTR_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|5/6|n.*534G>A|||||5037|,A|downstream_gene_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000426208|protein_coding||c.*582G>A|||||2446|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|5/6|n.*534G>A|||||| 22 18609493 . G A . . ANN=A|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000416740|protein_coding|3/4|c.820G>A|p.Val274Met|1117/1700|820/1403|274/466||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000316027|protein_coding|4/5|c.550G>A|p.Val184Met|898/1518|550/1152|184/383||,A|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000330423|protein_coding|4/5|c.748G>A|p.Val250Met|821/2018|748/1350|250/449||,A|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000608634|protein_coding|1/3|c.19G>A|p.Val7Met|20/1391|19/825|7/274||WARNING_TRANSCRIPT_NO_START_CODON,A|3_prime_UTR_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|5/6|n.*546G>A|||||5049|,A|downstream_gene_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000426208|protein_coding||c.*582G>A|||||2458|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|5/6|n.*546G>A|||||| 22 18609549 . G A . . ANN=A|synonymous_variant|LOW|TUBA8|ENSG00000183785|transcript|ENST00000416740|protein_coding|3/4|c.876G>A|p.Pro292Pro|1173/1700|876/1403|292/466||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|TUBA8|ENSG00000183785|transcript|ENST00000316027|protein_coding|4/5|c.606G>A|p.Pro202Pro|954/1518|606/1152|202/383||,A|synonymous_variant|LOW|TUBA8|ENSG00000183785|transcript|ENST00000330423|protein_coding|4/5|c.804G>A|p.Pro268Pro|877/2018|804/1350|268/449||,A|synonymous_variant|LOW|TUBA8|ENSG00000183785|transcript|ENST00000608634|protein_coding|1/3|c.75G>A|p.Pro25Pro|76/1391|75/825|25/274||WARNING_TRANSCRIPT_NO_START_CODON,A|3_prime_UTR_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|5/6|n.*602G>A|||||5105|,A|downstream_gene_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000426208|protein_coding||c.*582G>A|||||2514|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|5/6|n.*602G>A|||||| 22 18609561 . C T . . ANN=T|synonymous_variant|LOW|TUBA8|ENSG00000183785|transcript|ENST00000416740|protein_coding|3/4|c.888C>T|p.Tyr296Tyr|1185/1700|888/1403|296/466||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|TUBA8|ENSG00000183785|transcript|ENST00000316027|protein_coding|4/5|c.618C>T|p.Tyr206Tyr|966/1518|618/1152|206/383||,T|synonymous_variant|LOW|TUBA8|ENSG00000183785|transcript|ENST00000330423|protein_coding|4/5|c.816C>T|p.Tyr272Tyr|889/2018|816/1350|272/449||,T|synonymous_variant|LOW|TUBA8|ENSG00000183785|transcript|ENST00000608634|protein_coding|1/3|c.87C>T|p.Tyr29Tyr|88/1391|87/825|29/274||WARNING_TRANSCRIPT_NO_START_CODON,T|3_prime_UTR_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|5/6|n.*614C>T|||||5117|,T|downstream_gene_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000426208|protein_coding||c.*582C>T|||||2526|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|5/6|n.*614C>T|||||| 22 18609564 . G A . . ANN=A|synonymous_variant|LOW|TUBA8|ENSG00000183785|transcript|ENST00000416740|protein_coding|3/4|c.891G>A|p.Ala297Ala|1188/1700|891/1403|297/466||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|TUBA8|ENSG00000183785|transcript|ENST00000316027|protein_coding|4/5|c.621G>A|p.Ala207Ala|969/1518|621/1152|207/383||,A|synonymous_variant|LOW|TUBA8|ENSG00000183785|transcript|ENST00000330423|protein_coding|4/5|c.819G>A|p.Ala273Ala|892/2018|819/1350|273/449||,A|synonymous_variant|LOW|TUBA8|ENSG00000183785|transcript|ENST00000608634|protein_coding|1/3|c.90G>A|p.Ala30Ala|91/1391|90/825|30/274||WARNING_TRANSCRIPT_NO_START_CODON,A|3_prime_UTR_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|5/6|n.*617G>A|||||5120|,A|downstream_gene_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000426208|protein_coding||c.*582G>A|||||2529|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|5/6|n.*617G>A|||||| 22 18609579 . C T . . ANN=T|synonymous_variant|LOW|TUBA8|ENSG00000183785|transcript|ENST00000416740|protein_coding|3/4|c.906C>T|p.Ala302Ala|1203/1700|906/1403|302/466||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|TUBA8|ENSG00000183785|transcript|ENST00000316027|protein_coding|4/5|c.636C>T|p.Ala212Ala|984/1518|636/1152|212/383||,T|synonymous_variant|LOW|TUBA8|ENSG00000183785|transcript|ENST00000330423|protein_coding|4/5|c.834C>T|p.Ala278Ala|907/2018|834/1350|278/449||,T|synonymous_variant|LOW|TUBA8|ENSG00000183785|transcript|ENST00000608634|protein_coding|1/3|c.105C>T|p.Ala35Ala|106/1391|105/825|35/274||WARNING_TRANSCRIPT_NO_START_CODON,T|3_prime_UTR_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|5/6|n.*632C>T|||||5135|,T|downstream_gene_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000426208|protein_coding||c.*582C>T|||||2544|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|5/6|n.*632C>T|||||| 22 18609642 . C T . . ANN=T|synonymous_variant|LOW|TUBA8|ENSG00000183785|transcript|ENST00000416740|protein_coding|3/4|c.969C>T|p.Asn323Asn|1266/1700|969/1403|323/466||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|TUBA8|ENSG00000183785|transcript|ENST00000316027|protein_coding|4/5|c.699C>T|p.Asn233Asn|1047/1518|699/1152|233/383||,T|synonymous_variant|LOW|TUBA8|ENSG00000183785|transcript|ENST00000330423|protein_coding|4/5|c.897C>T|p.Asn299Asn|970/2018|897/1350|299/449||,T|synonymous_variant|LOW|TUBA8|ENSG00000183785|transcript|ENST00000608634|protein_coding|1/3|c.168C>T|p.Asn56Asn|169/1391|168/825|56/274||WARNING_TRANSCRIPT_NO_START_CODON,T|3_prime_UTR_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|5/6|n.*695C>T|||||5198|,T|downstream_gene_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000426208|protein_coding||c.*582C>T|||||2607|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|5/6|n.*695C>T|||||| 22 18609647 . A G . . ANN=G|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000416740|protein_coding|3/4|c.974A>G|p.Gln325Arg|1271/1700|974/1403|325/466||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000316027|protein_coding|4/5|c.704A>G|p.Gln235Arg|1052/1518|704/1152|235/383||,G|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000330423|protein_coding|4/5|c.902A>G|p.Gln301Arg|975/2018|902/1350|301/449||,G|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000608634|protein_coding|1/3|c.173A>G|p.Gln58Arg|174/1391|173/825|58/274||WARNING_TRANSCRIPT_NO_START_CODON,G|3_prime_UTR_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|5/6|n.*700A>G|||||5203|,G|downstream_gene_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000426208|protein_coding||c.*582A>G|||||2612|WARNING_TRANSCRIPT_NO_STOP_CODON,G|non_coding_exon_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|5/6|n.*700A>G|||||| 22 18609661 . G A . . ANN=A|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000416740|protein_coding|3/4|c.988G>A|p.Asp330Asn|1285/1700|988/1403|330/466||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000316027|protein_coding|4/5|c.718G>A|p.Asp240Asn|1066/1518|718/1152|240/383||,A|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000330423|protein_coding|4/5|c.916G>A|p.Asp306Asn|989/2018|916/1350|306/449||,A|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000608634|protein_coding|1/3|c.187G>A|p.Asp63Asn|188/1391|187/825|63/274||WARNING_TRANSCRIPT_NO_START_CODON,A|3_prime_UTR_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|5/6|n.*714G>A|||||5217|,A|downstream_gene_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000426208|protein_coding||c.*582G>A|||||2626|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|5/6|n.*714G>A|||||| 22 18609693 . C T . . ANN=T|synonymous_variant|LOW|TUBA8|ENSG00000183785|transcript|ENST00000416740|protein_coding|3/4|c.1020C>T|p.Cys340Cys|1317/1700|1020/1403|340/466||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|TUBA8|ENSG00000183785|transcript|ENST00000316027|protein_coding|4/5|c.750C>T|p.Cys250Cys|1098/1518|750/1152|250/383||,T|synonymous_variant|LOW|TUBA8|ENSG00000183785|transcript|ENST00000330423|protein_coding|4/5|c.948C>T|p.Cys316Cys|1021/2018|948/1350|316/449||,T|synonymous_variant|LOW|TUBA8|ENSG00000183785|transcript|ENST00000608634|protein_coding|1/3|c.219C>T|p.Cys73Cys|220/1391|219/825|73/274||WARNING_TRANSCRIPT_NO_START_CODON,T|3_prime_UTR_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|5/6|n.*746C>T|||||5249|,T|downstream_gene_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000426208|protein_coding||c.*582C>T|||||2658|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|5/6|n.*746C>T|||||| 22 18609703 . C T . . ANN=T|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000416740|protein_coding|3/4|c.1030C>T|p.Arg344Trp|1327/1700|1030/1403|344/466||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000316027|protein_coding|4/5|c.760C>T|p.Arg254Trp|1108/1518|760/1152|254/383||,T|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000330423|protein_coding|4/5|c.958C>T|p.Arg320Trp|1031/2018|958/1350|320/449||,T|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000608634|protein_coding|1/3|c.229C>T|p.Arg77Trp|230/1391|229/825|77/274||WARNING_TRANSCRIPT_NO_START_CODON,T|3_prime_UTR_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|5/6|n.*756C>T|||||5259|,T|downstream_gene_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000426208|protein_coding||c.*582C>T|||||2668|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|5/6|n.*756C>T|||||| 22 18609712 . G A . . ANN=A|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000416740|protein_coding|3/4|c.1039G>A|p.Val347Met|1336/1700|1039/1403|347/466||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000316027|protein_coding|4/5|c.769G>A|p.Val257Met|1117/1518|769/1152|257/383||,A|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000330423|protein_coding|4/5|c.967G>A|p.Val323Met|1040/2018|967/1350|323/449||,A|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000608634|protein_coding|1/3|c.238G>A|p.Val80Met|239/1391|238/825|80/274||WARNING_TRANSCRIPT_NO_START_CODON,A|3_prime_UTR_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|5/6|n.*765G>A|||||5268|,A|downstream_gene_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000426208|protein_coding||c.*582G>A|||||2677|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|5/6|n.*765G>A|||||| 22 18613603 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|TUBA8|ENSG00000183785|transcript|ENST00000416740|protein_coding|3/3|c.1129-7C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|splice_region_variant&intron_variant|LOW|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|5/5|n.*855-7C>T||||||,T|splice_region_variant&intron_variant|LOW|TUBA8|ENSG00000183785|transcript|ENST00000316027|protein_coding|4/4|c.859-7C>T||||||,T|splice_region_variant&intron_variant|LOW|TUBA8|ENSG00000183785|transcript|ENST00000330423|protein_coding|4/4|c.1057-7C>T||||||,T|splice_region_variant&intron_variant|LOW|TUBA8|ENSG00000183785|transcript|ENST00000608634|protein_coding|1/2|c.328-7C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 18613682 . A G . . ANN=G|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000416740|protein_coding|4/4|c.1201A>G|p.Met401Val|1498/1700|1201/1403|401/466||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000316027|protein_coding|5/5|c.931A>G|p.Met311Val|1279/1518|931/1152|311/383||,G|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000330423|protein_coding|5/5|c.1129A>G|p.Met377Val|1202/2018|1129/1350|377/449||,G|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000608634|protein_coding|2/3|c.400A>G|p.Met134Val|401/1391|400/825|134/274||WARNING_TRANSCRIPT_NO_START_CODON,G|3_prime_UTR_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|6/6|n.*927A>G|||||9238|,G|non_coding_exon_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|6/6|n.*927A>G|||||| 22 18613726 . C T . . ANN=T|synonymous_variant|LOW|TUBA8|ENSG00000183785|transcript|ENST00000416740|protein_coding|4/4|c.1245C>T|p.Leu415Leu|1542/1700|1245/1403|415/466||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|TUBA8|ENSG00000183785|transcript|ENST00000316027|protein_coding|5/5|c.975C>T|p.Leu325Leu|1323/1518|975/1152|325/383||,T|synonymous_variant|LOW|TUBA8|ENSG00000183785|transcript|ENST00000330423|protein_coding|5/5|c.1173C>T|p.Leu391Leu|1246/2018|1173/1350|391/449||,T|synonymous_variant|LOW|TUBA8|ENSG00000183785|transcript|ENST00000608634|protein_coding|2/3|c.444C>T|p.Leu148Leu|445/1391|444/825|148/274||WARNING_TRANSCRIPT_NO_START_CODON,T|3_prime_UTR_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|6/6|n.*971C>T|||||9282|,T|non_coding_exon_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|6/6|n.*971C>T|||||| 22 18613770 . A G . . ANN=G|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000416740|protein_coding|4/4|c.1289A>G|p.His430Arg|1586/1700|1289/1403|430/466||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000316027|protein_coding|5/5|c.1019A>G|p.His340Arg|1367/1518|1019/1152|340/383||,G|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000330423|protein_coding|5/5|c.1217A>G|p.His406Arg|1290/2018|1217/1350|406/449||,G|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000608634|protein_coding|2/3|c.488A>G|p.His163Arg|489/1391|488/825|163/274||WARNING_TRANSCRIPT_NO_START_CODON,G|3_prime_UTR_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|6/6|n.*1015A>G|||||9326|,G|non_coding_exon_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|6/6|n.*1015A>G|||||| 22 18613846 . T G . . ANN=G|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000416740|protein_coding|4/4|c.1365T>G|p.Asp455Glu|1662/1700|1365/1403|455/466||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000316027|protein_coding|5/5|c.1095T>G|p.Asp365Glu|1443/1518|1095/1152|365/383||,G|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000330423|protein_coding|5/5|c.1293T>G|p.Asp431Glu|1366/2018|1293/1350|431/449||,G|3_prime_UTR_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|6/6|n.*1091T>G|||||9402|,G|intron_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000608634|protein_coding|2/2|c.491+73T>G||||||WARNING_TRANSCRIPT_NO_START_CODON,G|non_coding_exon_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|6/6|n.*1091T>G|||||| 22 18613916 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000316027|protein_coding|5/5|c.*13C>T|||||13|,T|3_prime_UTR_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000330423|protein_coding|5/5|c.*13C>T|||||13|,T|downstream_gene_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000416740|protein_coding||c.*1700C>T|||||32|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay||n.*932C>T|||||11|,T|intron_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000608634|protein_coding|2/2|c.491+143C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 18613921 . G A . . ANN=A|splice_region_variant|LOW|TUBA8|ENSG00000183785|transcript|ENST00000316027|protein_coding|5/5|c.*18G>A||||||,A|3_prime_UTR_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000316027|protein_coding|5/5|c.*18G>A|||||18|,A|3_prime_UTR_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000330423|protein_coding|5/5|c.*18G>A|||||18|,A|downstream_gene_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000416740|protein_coding||c.*1700G>A|||||37|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay||n.*932G>A|||||16|,A|intron_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000608634|protein_coding|2/2|c.491+148G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 18640397 . C G . . ANN=G|5_prime_UTR_variant|MODIFIER|USP18|ENSG00000184979|transcript|ENST00000215794|protein_coding|2/11|c.-34C>G|||||34| 22 18640527 . G A . . ANN=A|missense_variant|MODERATE|USP18|ENSG00000184979|transcript|ENST00000215794|protein_coding|2/11|c.97G>A|p.Asp33Asn|527/2129|97/1119|33/372|| 22 18640597 . C A . . ANN=A|intron_variant|MODIFIER|USP18|ENSG00000184979|transcript|ENST00000215794|protein_coding|2/10|c.157+10C>A|||||| 22 18642898 . C T . . ANN=T|intron_variant|MODIFIER|USP18|ENSG00000184979|transcript|ENST00000215794|protein_coding|2/10|c.158-41C>T|||||| 22 18642909 . C A . . ANN=A|intron_variant|MODIFIER|USP18|ENSG00000184979|transcript|ENST00000215794|protein_coding|2/10|c.158-30C>A|||||| 22 18642934 . T G . . ANN=G|splice_region_variant&intron_variant|LOW|USP18|ENSG00000184979|transcript|ENST00000215794|protein_coding|2/10|c.158-5T>G|||||| 22 18643059 . G A . . ANN=A|sequence_feature|LOW|USP18|ENSG00000184979|domain:USP|ENST00000215794|protein_coding|5/11|c.254+24G>A||||||,A|sequence_feature|LOW|USP18|ENSG00000184979|domain:USP|ENST00000215794|protein_coding|8/11|c.254+24G>A||||||,A|sequence_feature|LOW|USP18|ENSG00000184979|domain:USP|ENST00000215794|protein_coding|10/11|c.254+24G>A||||||,A|sequence_feature|LOW|USP18|ENSG00000184979|domain:USP|ENST00000215794|protein_coding|6/11|c.254+24G>A||||||,A|sequence_feature|LOW|USP18|ENSG00000184979|domain:USP|ENST00000215794|protein_coding|7/11|c.254+24G>A||||||,A|sequence_feature|LOW|USP18|ENSG00000184979|domain:USP|ENST00000215794|protein_coding|4/11|c.254+24G>A||||||,A|sequence_feature|LOW|USP18|ENSG00000184979|domain:USP|ENST00000215794|protein_coding|9/11|c.254+24G>A||||||,A|sequence_feature|LOW|USP18|ENSG00000184979|domain:USP|ENST00000215794|protein_coding|11/11|c.254+24G>A||||||,A|sequence_feature|LOW|USP18|ENSG00000184979|domain:USP|ENST00000215794|protein_coding|3/11|c.254+24G>A||||||,A|intron_variant|MODIFIER|USP18|ENSG00000184979|transcript|ENST00000215794|protein_coding|3/10|c.254+24G>A|||||| 22 18893846 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000331444|protein_coding|1/5|c.-42G>A|||||42|,A|5_prime_UTR_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|1/5|n.-42G>A|||||42|,A|upstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000427407|nonsense_mediated_decay||n.-25G>A|||||18|,A|upstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000608842|protein_coding||c.-23G>A|||||20|,A|upstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000480608|nonsense_mediated_decay||n.-21G>A|||||22|,A|upstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000477156|retained_intron||n.-1G>A|||||448|,A|upstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000436645|processed_transcript||n.-1G>A|||||2330|,A|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000413981|protein_coding|1/4|c.-299+219G>A||||||,A|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|1/5|n.-42G>A|||||| 22 18893902 . G C . . ANN=C|synonymous_variant|LOW|DGCR6|ENSG00000183628|transcript|ENST00000331444|protein_coding|1/5|c.15G>C|p.Ala5Ala|167/1214|15/663|5/220||,C|synonymous_variant|LOW|DGCR6|ENSG00000183628|transcript|ENST00000608842|protein_coding|1/2|c.15G>C|p.Ala5Ala|37/1837|15/435|5/144||,C|upstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000477156|retained_intron||n.-1G>C|||||392|,C|upstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000436645|processed_transcript||n.-1G>C|||||2274|,C|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000413981|protein_coding|1/4|c.-298-176G>C||||||,C|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|1/5|n.15G>C||||||,C|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000427407|nonsense_mediated_decay|1/6|n.15G>C||||||,C|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000480608|nonsense_mediated_decay|1/5|n.15G>C|||||| 22 18893995 . C G . . ANN=G|splice_region_variant&synonymous_variant|LOW|DGCR6|ENSG00000183628|transcript|ENST00000331444|protein_coding|1/5|c.108C>G|p.Pro36Pro|260/1214|108/663|36/220||,G|splice_region_variant&non_coding_exon_variant|LOW|DGCR6|ENSG00000183628|transcript|ENST00000427407|nonsense_mediated_decay|1/6|n.108C>G||||||,G|splice_region_variant&synonymous_variant|LOW|DGCR6|ENSG00000183628|transcript|ENST00000608842|protein_coding|1/2|c.108C>G|p.Pro36Pro|130/1837|108/435|36/144||,G|splice_region_variant&non_coding_exon_variant|LOW|DGCR6|ENSG00000183628|transcript|ENST00000480608|nonsense_mediated_decay|1/5|n.108C>G||||||,G|upstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000477156|retained_intron||n.-1C>G|||||299|,G|upstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000436645|processed_transcript||n.-1C>G|||||2181|,G|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000413981|protein_coding|1/4|c.-298-83C>G||||||,G|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|1/4|n.93+15C>G|||||| 22 18894001 . CGCGGGCGGG C . . ANN=|upstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000477156|retained_intron||n.-1_-1delGCGGGCGGG|||||292|,|upstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000436645|processed_transcript||n.-1_-1delGCGGGCGGG|||||2174|,|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000331444|protein_coding|1/4|c.110+13_110+21delGGCGGGCGG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000413981|protein_coding|1/4|c.-298-68_-298-60delGGCGGGCGG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|1/4|n.93+30_93+38delGGCGGGCGG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000427407|nonsense_mediated_decay|1/5|n.110+13_110+21delGGCGGGCGG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000608842|protein_coding|1/1|c.110+13_110+21delGGCGGGCGG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000480608|nonsense_mediated_decay|1/4|n.110+13_110+21delGGCGGGCGG||||||INFO_REALIGN_3_PRIME 22 18894009 . G GC . . ANN=C|upstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000477156|retained_intron||n.-1_-1insC|||||284|,C|upstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000436645|processed_transcript||n.-1_-1insC|||||2166|,C|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000331444|protein_coding|1/4|c.110+12_110+13insC||||||,C|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000413981|protein_coding|1/4|c.-298-69_-298-68insC||||||,C|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|1/4|n.93+29_93+30insC||||||,C|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000427407|nonsense_mediated_decay|1/5|n.110+12_110+13insC||||||,C|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000608842|protein_coding|1/1|c.110+12_110+13insC||||||,C|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000480608|nonsense_mediated_decay|1/4|n.110+12_110+13insC|||||| 22 18894042 . T C . . ANN=C|upstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000477156|retained_intron||n.-1T>C|||||252|,C|upstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000436645|processed_transcript||n.-1T>C|||||2134|,C|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000331444|protein_coding|1/4|c.111-36T>C||||||,C|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000413981|protein_coding|1/4|c.-298-36T>C||||||,C|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|1/4|n.94-36T>C||||||,C|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000427407|nonsense_mediated_decay|1/5|n.111-36T>C||||||,C|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000608842|protein_coding|1/1|c.111-36T>C||||||,C|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000480608|nonsense_mediated_decay|1/4|n.111-36T>C|||||| 22 18894058 . C G . . ANN=G|upstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000477156|retained_intron||n.-1C>G|||||236|,G|upstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000436645|processed_transcript||n.-1C>G|||||2118|,G|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000331444|protein_coding|1/4|c.111-20C>G||||||,G|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000413981|protein_coding|1/4|c.-298-20C>G||||||,G|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|1/4|n.94-20C>G||||||,G|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000427407|nonsense_mediated_decay|1/5|n.111-20C>G||||||,G|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000608842|protein_coding|1/1|c.111-20C>G||||||,G|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000480608|nonsense_mediated_decay|1/4|n.111-20C>G|||||| 22 18894209 . A AGCGCCT . . ANN=GCGCCT|disruptive_inframe_insertion|MODERATE|DGCR6|ENSG00000183628|transcript|ENST00000331444|protein_coding|2/5|c.249_254dupGCGCCT|p.Arg84_Leu85dup|407/1214|255/663|85/220||INFO_REALIGN_3_PRIME,GCGCCT|disruptive_inframe_insertion|MODERATE|DGCR6|ENSG00000183628|transcript|ENST00000608842|protein_coding|2/2|c.249_254dupGCGCCT|p.Arg84_Leu85dup|277/1837|255/435|85/144||INFO_REALIGN_3_PRIME,GCGCCT|sequence_feature|LOW|DGCR6|ENSG00000183628|coiled-coil_region|ENST00000331444|protein_coding|3/5|c.242_243insGCGCCT||||||,GCGCCT|sequence_feature|LOW|DGCR6|ENSG00000183628|coiled-coil_region|ENST00000331444|protein_coding|4/5|c.242_243insGCGCCT||||||,GCGCCT|sequence_feature|LOW|DGCR6|ENSG00000183628|coiled-coil_region|ENST00000331444|protein_coding|2/5|c.242_243insGCGCCT||||||,GCGCCT|5_prime_UTR_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000413981|protein_coding|2/5|c.-160_-155dupGCGCCT|||||4215|INFO_REALIGN_3_PRIME,GCGCCT|upstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000477156|retained_intron||n.-1_-1insGCGCCT|||||84|,GCGCCT|upstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000436645|processed_transcript||n.-1_-1insGCGCCT|||||1966|,GCGCCT|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|2/5|n.232_237dupGCGCCT||||||INFO_REALIGN_3_PRIME,GCGCCT|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000427407|nonsense_mediated_decay|2/6|n.249_254dupGCGCCT||||||INFO_REALIGN_3_PRIME,GCGCCT|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000480608|nonsense_mediated_decay|2/5|n.249_254dupGCGCCT||||||INFO_REALIGN_3_PRIME 22 18897756 . C A,G . . ANN=A|missense_variant|MODERATE|DGCR6|ENSG00000183628|transcript|ENST00000331444|protein_coding|3/5|c.343C>A|p.Leu115Ile|495/1214|343/663|115/220||,G|missense_variant|MODERATE|DGCR6|ENSG00000183628|transcript|ENST00000331444|protein_coding|3/5|c.343C>G|p.Leu115Val|495/1214|343/663|115/220||,A|sequence_feature|LOW|DGCR6|ENSG00000183628|coiled-coil_region|ENST00000331444|protein_coding|3/5|c.343C>A||||||,A|sequence_feature|LOW|DGCR6|ENSG00000183628|coiled-coil_region|ENST00000331444|protein_coding|4/5|c.343C>A||||||,A|sequence_feature|LOW|DGCR6|ENSG00000183628|coiled-coil_region|ENST00000331444|protein_coding|2/5|c.343C>A||||||,G|sequence_feature|LOW|DGCR6|ENSG00000183628|coiled-coil_region|ENST00000331444|protein_coding|3/5|c.343C>G||||||,G|sequence_feature|LOW|DGCR6|ENSG00000183628|coiled-coil_region|ENST00000331444|protein_coding|4/5|c.343C>G||||||,G|sequence_feature|LOW|DGCR6|ENSG00000183628|coiled-coil_region|ENST00000331444|protein_coding|2/5|c.343C>G||||||,A|5_prime_UTR_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000413981|protein_coding|3/5|c.-66C>A|||||681|,G|5_prime_UTR_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000413981|protein_coding|3/5|c.-66C>G|||||681|,A|3_prime_UTR_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|3/5|n.*11C>A|||||11|,G|3_prime_UTR_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|3/5|n.*11C>G|||||11|,A|3_prime_UTR_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000480608|nonsense_mediated_decay|3/5|n.*262C>A|||||3354|,G|3_prime_UTR_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000480608|nonsense_mediated_decay|3/5|n.*262C>G|||||3354|,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding||c.*2069G>T|||||2539|,G|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding||c.*2069G>C|||||2539|,A|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000608842|protein_coding||c.*457C>A|||||1974|,G|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000608842|protein_coding||c.*457C>G|||||1974|,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron||n.*3106G>T|||||2538|,G|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron||n.*3106G>C|||||2538|,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding||c.*1640G>T|||||2538|,G|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding||c.*1640G>C|||||2538|,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron||n.*2961G>T|||||2539|,G|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron||n.*2961G>C|||||2539|,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron||n.*2567G>T|||||2539|,G|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron||n.*2567G>C|||||2539|,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron||n.*4676G>T|||||2539|,G|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron||n.*4676G>C|||||2539|,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding||c.*1592G>T|||||2539|,G|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding||c.*1592G>C|||||2539|,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.*4739G>T|||||4287|,G|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.*4739G>C|||||4287|,A|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|3/5|n.*11C>A||||||,G|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|3/5|n.*11C>G||||||,A|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000427407|nonsense_mediated_decay|4/6|n.462C>A||||||,G|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000427407|nonsense_mediated_decay|4/6|n.462C>G||||||,A|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000480608|nonsense_mediated_decay|3/5|n.*262C>A||||||,G|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000480608|nonsense_mediated_decay|3/5|n.*262C>G||||||,A|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000477156|retained_intron|2/2|n.378C>A||||||,G|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000477156|retained_intron|2/2|n.378C>G||||||,A|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000436645|processed_transcript|2/4|n.103C>A||||||,G|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000436645|processed_transcript|2/4|n.103C>G|||||| 22 18897763 . C T . . ANN=T|missense_variant|MODERATE|DGCR6|ENSG00000183628|transcript|ENST00000331444|protein_coding|3/5|c.350C>T|p.Ala117Val|502/1214|350/663|117/220||,T|sequence_feature|LOW|DGCR6|ENSG00000183628|coiled-coil_region|ENST00000331444|protein_coding|3/5|c.350C>T||||||,T|sequence_feature|LOW|DGCR6|ENSG00000183628|coiled-coil_region|ENST00000331444|protein_coding|4/5|c.350C>T||||||,T|sequence_feature|LOW|DGCR6|ENSG00000183628|coiled-coil_region|ENST00000331444|protein_coding|2/5|c.350C>T||||||,T|5_prime_UTR_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000413981|protein_coding|3/5|c.-59C>T|||||674|,T|3_prime_UTR_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|3/5|n.*18C>T|||||18|,T|3_prime_UTR_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000480608|nonsense_mediated_decay|3/5|n.*269C>T|||||3361|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding||c.*2069G>A|||||2532|,T|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000608842|protein_coding||c.*457C>T|||||1981|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron||n.*3106G>A|||||2531|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding||c.*1640G>A|||||2531|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron||n.*2961G>A|||||2532|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron||n.*2567G>A|||||2532|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron||n.*4676G>A|||||2532|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding||c.*1592G>A|||||2532|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.*4739G>A|||||4280|,T|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|3/5|n.*18C>T||||||,T|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000427407|nonsense_mediated_decay|4/6|n.469C>T||||||,T|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000480608|nonsense_mediated_decay|3/5|n.*269C>T||||||,T|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000477156|retained_intron|2/2|n.385C>T||||||,T|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000436645|processed_transcript|2/4|n.110C>T|||||| 22 18897796 . C T . . ANN=T|sequence_feature|LOW|DGCR6|ENSG00000183628|coiled-coil_region|ENST00000331444|protein_coding|3/5|c.372+11C>T||||||,T|sequence_feature|LOW|DGCR6|ENSG00000183628|coiled-coil_region|ENST00000331444|protein_coding|4/5|c.372+11C>T||||||,T|sequence_feature|LOW|DGCR6|ENSG00000183628|coiled-coil_region|ENST00000331444|protein_coding|2/5|c.372+11C>T||||||,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding||c.*2069G>A|||||2499|,T|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000608842|protein_coding||c.*457C>T|||||2014|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron||n.*3106G>A|||||2498|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding||c.*1640G>A|||||2498|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron||n.*2961G>A|||||2499|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron||n.*2567G>A|||||2499|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron||n.*4676G>A|||||2499|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding||c.*1592G>A|||||2499|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.*4739G>A|||||4247|,T|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000331444|protein_coding|3/4|c.372+11C>T||||||,T|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000413981|protein_coding|3/4|c.-37+11C>T||||||,T|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|3/4|n.*40+11C>T||||||,T|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000427407|nonsense_mediated_decay|4/5|n.*2+11C>T||||||,T|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000480608|nonsense_mediated_decay|3/4|n.*291+11C>T||||||,T|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000436645|processed_transcript|2/3|n.132+11C>T||||||,T|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000477156|retained_intron|2/2|n.418C>T|||||| 22 18897812 . G A . . ANN=A|sequence_feature|LOW|DGCR6|ENSG00000183628|coiled-coil_region|ENST00000331444|protein_coding|3/5|c.372+27G>A||||||,A|sequence_feature|LOW|DGCR6|ENSG00000183628|coiled-coil_region|ENST00000331444|protein_coding|4/5|c.372+27G>A||||||,A|sequence_feature|LOW|DGCR6|ENSG00000183628|coiled-coil_region|ENST00000331444|protein_coding|2/5|c.372+27G>A||||||,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding||c.*2069C>T|||||2483|,A|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000608842|protein_coding||c.*457G>A|||||2030|,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron||n.*3106C>T|||||2482|,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding||c.*1640C>T|||||2482|,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron||n.*2961C>T|||||2483|,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron||n.*2567C>T|||||2483|,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron||n.*4676C>T|||||2483|,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding||c.*1592C>T|||||2483|,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.*4739C>T|||||4231|,A|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000331444|protein_coding|3/4|c.372+27G>A||||||,A|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000413981|protein_coding|3/4|c.-37+27G>A||||||,A|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|3/4|n.*40+27G>A||||||,A|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000427407|nonsense_mediated_decay|4/5|n.*2+27G>A||||||,A|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000480608|nonsense_mediated_decay|3/4|n.*291+27G>A||||||,A|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000436645|processed_transcript|2/3|n.132+27G>A||||||,A|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000477156|retained_intron|2/2|n.434G>A|||||| 22 18898351 . ATG A . . ANN=|sequence_feature|LOW|DGCR6|ENSG00000183628|coiled-coil_region|ENST00000331444|protein_coding|3/5|c.373-49_373-48delTG||||||,|sequence_feature|LOW|DGCR6|ENSG00000183628|coiled-coil_region|ENST00000331444|protein_coding|4/5|c.373-49_373-48delTG||||||,|sequence_feature|LOW|DGCR6|ENSG00000183628|coiled-coil_region|ENST00000331444|protein_coding|2/5|c.373-49_373-48delTG||||||,|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding||c.*2069_*2069delCA|||||1943|,|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000608842|protein_coding||c.*457_*457delTG|||||2570|,|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000477156|retained_intron||n.*524_*524delTG|||||450|,|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron||n.*3106_*3106delCA|||||1942|,|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding||c.*1640_*1640delCA|||||1942|,|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron||n.*2961_*2961delCA|||||1943|,|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron||n.*2567_*2567delCA|||||1943|,|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron||n.*4676_*4676delCA|||||1943|,|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding||c.*1592_*1592delCA|||||1943|,|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.*4739_*4739delCA|||||3691|,|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000331444|protein_coding|3/4|c.373-46_373-45delGT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000413981|protein_coding|3/4|c.-36-46_-36-45delGT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|3/4|n.*41-46_*41-45delGT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000427407|nonsense_mediated_decay|4/5|n.*3-46_*3-45delGT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000480608|nonsense_mediated_decay|3/4|n.*292-46_*292-45delGT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000436645|processed_transcript|2/3|n.133-46_133-45delGT||||||INFO_REALIGN_3_PRIME 22 18898378 . C T . . ANN=T|sequence_feature|LOW|DGCR6|ENSG00000183628|coiled-coil_region|ENST00000331444|protein_coding|3/5|c.373-23C>T||||||,T|sequence_feature|LOW|DGCR6|ENSG00000183628|coiled-coil_region|ENST00000331444|protein_coding|4/5|c.373-23C>T||||||,T|sequence_feature|LOW|DGCR6|ENSG00000183628|coiled-coil_region|ENST00000331444|protein_coding|2/5|c.373-23C>T||||||,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding||c.*2069G>A|||||1917|,T|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000608842|protein_coding||c.*457C>T|||||2596|,T|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000477156|retained_intron||n.*524C>T|||||476|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron||n.*3106G>A|||||1916|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding||c.*1640G>A|||||1916|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron||n.*2961G>A|||||1917|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron||n.*2567G>A|||||1917|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron||n.*4676G>A|||||1917|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding||c.*1592G>A|||||1917|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.*4739G>A|||||3665|,T|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000331444|protein_coding|3/4|c.373-23C>T||||||,T|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000413981|protein_coding|3/4|c.-36-23C>T||||||,T|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|3/4|n.*41-23C>T||||||,T|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000427407|nonsense_mediated_decay|4/5|n.*3-23C>T||||||,T|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000480608|nonsense_mediated_decay|3/4|n.*292-23C>T||||||,T|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000436645|processed_transcript|2/3|n.133-23C>T|||||| 22 18898387 . C T . . ANN=T|sequence_feature|LOW|DGCR6|ENSG00000183628|coiled-coil_region|ENST00000331444|protein_coding|3/5|c.373-14C>T||||||,T|sequence_feature|LOW|DGCR6|ENSG00000183628|coiled-coil_region|ENST00000331444|protein_coding|4/5|c.373-14C>T||||||,T|sequence_feature|LOW|DGCR6|ENSG00000183628|coiled-coil_region|ENST00000331444|protein_coding|2/5|c.373-14C>T||||||,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding||c.*2069G>A|||||1908|,T|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000608842|protein_coding||c.*457C>T|||||2605|,T|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000477156|retained_intron||n.*524C>T|||||485|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron||n.*3106G>A|||||1907|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding||c.*1640G>A|||||1907|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron||n.*2961G>A|||||1908|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron||n.*2567G>A|||||1908|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron||n.*4676G>A|||||1908|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding||c.*1592G>A|||||1908|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.*4739G>A|||||3656|,T|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000331444|protein_coding|3/4|c.373-14C>T||||||,T|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000413981|protein_coding|3/4|c.-36-14C>T||||||,T|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|3/4|n.*41-14C>T||||||,T|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000427407|nonsense_mediated_decay|4/5|n.*3-14C>T||||||,T|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000480608|nonsense_mediated_decay|3/4|n.*292-14C>T||||||,T|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000436645|processed_transcript|2/3|n.133-14C>T|||||| 22 18898395 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|DGCR6|ENSG00000183628|transcript|ENST00000331444|protein_coding|3/4|c.373-6C>T||||||,T|splice_region_variant&intron_variant|LOW|DGCR6|ENSG00000183628|transcript|ENST00000413981|protein_coding|3/4|c.-36-6C>T||||||,T|splice_region_variant&intron_variant|LOW|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|3/4|n.*41-6C>T||||||,T|splice_region_variant&intron_variant|LOW|DGCR6|ENSG00000183628|transcript|ENST00000427407|nonsense_mediated_decay|4/5|n.*3-6C>T||||||,T|splice_region_variant&intron_variant|LOW|DGCR6|ENSG00000183628|transcript|ENST00000480608|nonsense_mediated_decay|3/4|n.*292-6C>T||||||,T|splice_region_variant&intron_variant|LOW|DGCR6|ENSG00000183628|transcript|ENST00000436645|processed_transcript|2/3|n.133-6C>T||||||,T|sequence_feature|LOW|DGCR6|ENSG00000183628|coiled-coil_region|ENST00000331444|protein_coding|3/5|c.373-6C>T||||||,T|sequence_feature|LOW|DGCR6|ENSG00000183628|coiled-coil_region|ENST00000331444|protein_coding|4/5|c.373-6C>T||||||,T|sequence_feature|LOW|DGCR6|ENSG00000183628|coiled-coil_region|ENST00000331444|protein_coding|2/5|c.373-6C>T||||||,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding||c.*2069G>A|||||1900|,T|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000608842|protein_coding||c.*457C>T|||||2613|,T|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000477156|retained_intron||n.*524C>T|||||493|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron||n.*3106G>A|||||1899|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding||c.*1640G>A|||||1899|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron||n.*2961G>A|||||1900|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron||n.*2567G>A|||||1900|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron||n.*4676G>A|||||1900|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding||c.*1592G>A|||||1900|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.*4739G>A|||||3648| 22 18898415 . G A . . ANN=A|synonymous_variant|LOW|DGCR6|ENSG00000183628|transcript|ENST00000331444|protein_coding|4/5|c.387G>A|p.Arg129Arg|539/1214|387/663|129/220||,A|sequence_feature|LOW|DGCR6|ENSG00000183628|coiled-coil_region|ENST00000331444|protein_coding|3/5|c.387G>A||||||,A|sequence_feature|LOW|DGCR6|ENSG00000183628|coiled-coil_region|ENST00000331444|protein_coding|4/5|c.387G>A||||||,A|sequence_feature|LOW|DGCR6|ENSG00000183628|coiled-coil_region|ENST00000331444|protein_coding|2/5|c.387G>A||||||,A|5_prime_UTR_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000413981|protein_coding|4/5|c.-22G>A|||||22|,A|3_prime_UTR_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|4/5|n.*55G>A|||||670|,A|3_prime_UTR_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000427407|nonsense_mediated_decay|5/6|n.*17G>A|||||632|,A|3_prime_UTR_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000480608|nonsense_mediated_decay|4/5|n.*306G>A|||||4013|,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding||c.*2069C>T|||||1880|,A|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000608842|protein_coding||c.*457G>A|||||2633|,A|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000477156|retained_intron||n.*524G>A|||||513|,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron||n.*3106C>T|||||1879|,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding||c.*1640C>T|||||1879|,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron||n.*2961C>T|||||1880|,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron||n.*2567C>T|||||1880|,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron||n.*4676C>T|||||1880|,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding||c.*1592C>T|||||1880|,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.*4739C>T|||||3628|,A|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|4/5|n.*55G>A||||||,A|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000427407|nonsense_mediated_decay|5/6|n.*17G>A||||||,A|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000480608|nonsense_mediated_decay|4/5|n.*306G>A||||||,A|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000436645|processed_transcript|3/4|n.147G>A|||||| 22 18898421 . T G . . ANN=G|synonymous_variant|LOW|DGCR6|ENSG00000183628|transcript|ENST00000331444|protein_coding|4/5|c.393T>G|p.Arg131Arg|545/1214|393/663|131/220||,G|sequence_feature|LOW|DGCR6|ENSG00000183628|coiled-coil_region|ENST00000331444|protein_coding|3/5|c.393T>G||||||,G|sequence_feature|LOW|DGCR6|ENSG00000183628|coiled-coil_region|ENST00000331444|protein_coding|4/5|c.393T>G||||||,G|sequence_feature|LOW|DGCR6|ENSG00000183628|coiled-coil_region|ENST00000331444|protein_coding|2/5|c.393T>G||||||,G|5_prime_UTR_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000413981|protein_coding|4/5|c.-16T>G|||||16|,G|3_prime_UTR_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|4/5|n.*61T>G|||||676|,G|3_prime_UTR_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000427407|nonsense_mediated_decay|5/6|n.*23T>G|||||638|,G|3_prime_UTR_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000480608|nonsense_mediated_decay|4/5|n.*312T>G|||||4019|,G|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding||c.*2069A>C|||||1874|,G|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000608842|protein_coding||c.*457T>G|||||2639|,G|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000477156|retained_intron||n.*524T>G|||||519|,G|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron||n.*3106A>C|||||1873|,G|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding||c.*1640A>C|||||1873|,G|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron||n.*2961A>C|||||1874|,G|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron||n.*2567A>C|||||1874|,G|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron||n.*4676A>C|||||1874|,G|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding||c.*1592A>C|||||1874|,G|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.*4739A>C|||||3622|,G|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|4/5|n.*61T>G||||||,G|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000427407|nonsense_mediated_decay|5/6|n.*23T>G||||||,G|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000480608|nonsense_mediated_decay|4/5|n.*312T>G||||||,G|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000436645|processed_transcript|3/4|n.153T>G|||||| 22 18898436 . G A . . ANN=A|synonymous_variant|LOW|DGCR6|ENSG00000183628|transcript|ENST00000331444|protein_coding|4/5|c.408G>A|p.Ala136Ala|560/1214|408/663|136/220||,A|sequence_feature|LOW|DGCR6|ENSG00000183628|coiled-coil_region|ENST00000331444|protein_coding|3/5|c.408G>A||||||,A|sequence_feature|LOW|DGCR6|ENSG00000183628|coiled-coil_region|ENST00000331444|protein_coding|4/5|c.408G>A||||||,A|sequence_feature|LOW|DGCR6|ENSG00000183628|coiled-coil_region|ENST00000331444|protein_coding|2/5|c.408G>A||||||,A|5_prime_UTR_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000413981|protein_coding|4/5|c.-1G>A|||||1|,A|3_prime_UTR_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|4/5|n.*76G>A|||||691|,A|3_prime_UTR_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000427407|nonsense_mediated_decay|5/6|n.*38G>A|||||653|,A|3_prime_UTR_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000480608|nonsense_mediated_decay|4/5|n.*327G>A|||||4034|,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding||c.*2069C>T|||||1859|,A|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000608842|protein_coding||c.*457G>A|||||2654|,A|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000477156|retained_intron||n.*524G>A|||||534|,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron||n.*3106C>T|||||1858|,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding||c.*1640C>T|||||1858|,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron||n.*2961C>T|||||1859|,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron||n.*2567C>T|||||1859|,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron||n.*4676C>T|||||1859|,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding||c.*1592C>T|||||1859|,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.*4739C>T|||||3607|,A|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|4/5|n.*76G>A||||||,A|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000427407|nonsense_mediated_decay|5/6|n.*38G>A||||||,A|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000480608|nonsense_mediated_decay|4/5|n.*327G>A||||||,A|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000436645|processed_transcript|3/4|n.168G>A|||||| 22 18898443 . CAGA C . . ANN=|disruptive_inframe_deletion|MODERATE|DGCR6|ENSG00000183628|transcript|ENST00000331444|protein_coding|4/5|c.419_421delAGA|p.Lys140del|571/1214|419/663|140/220||INFO_REALIGN_3_PRIME,|disruptive_inframe_deletion|MODERATE|DGCR6|ENSG00000183628|transcript|ENST00000413981|protein_coding|4/5|c.11_13delAGA|p.Lys4del|396/1039|11/255|4/84||INFO_REALIGN_3_PRIME,|sequence_feature|LOW|DGCR6|ENSG00000183628|coiled-coil_region|ENST00000331444|protein_coding|3/5|c.416_418delAGA||||||,|sequence_feature|LOW|DGCR6|ENSG00000183628|coiled-coil_region|ENST00000331444|protein_coding|4/5|c.416_418delAGA||||||,|sequence_feature|LOW|DGCR6|ENSG00000183628|coiled-coil_region|ENST00000331444|protein_coding|2/5|c.416_418delAGA||||||,|3_prime_UTR_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|4/5|n.*87_*89delAGA|||||702|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000427407|nonsense_mediated_decay|5/6|n.*49_*51delAGA|||||664|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000480608|nonsense_mediated_decay|4/5|n.*338_*340delAGA|||||4045|INFO_REALIGN_3_PRIME,|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding||c.*2069_*2069delTCT|||||1851|,|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000608842|protein_coding||c.*457_*457delAGA|||||2662|,|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000477156|retained_intron||n.*524_*524delAGA|||||542|,|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron||n.*3106_*3106delTCT|||||1850|,|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding||c.*1640_*1640delTCT|||||1850|,|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron||n.*2961_*2961delTCT|||||1851|,|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron||n.*2567_*2567delTCT|||||1851|,|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron||n.*4676_*4676delTCT|||||1851|,|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding||c.*1592_*1592delTCT|||||1851|,|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.*4739_*4739delTCT|||||3599|,|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|4/5|n.*87_*89delAGA||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000427407|nonsense_mediated_decay|5/6|n.*49_*51delAGA||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000480608|nonsense_mediated_decay|4/5|n.*338_*340delAGA||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000436645|processed_transcript|3/4|n.179_181delAGA||||||INFO_REALIGN_3_PRIME 22 18898555 . C T . . ANN=T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding||c.*2069G>A|||||1740|,T|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000608842|protein_coding||c.*457C>T|||||2773|,T|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000477156|retained_intron||n.*524C>T|||||653|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron||n.*3106G>A|||||1739|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding||c.*1640G>A|||||1739|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron||n.*2961G>A|||||1740|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron||n.*2567G>A|||||1740|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron||n.*4676G>A|||||1740|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding||c.*1592G>A|||||1740|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.*4739G>A|||||3488|,T|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000331444|protein_coding|4/4|c.513+14C>T||||||,T|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000413981|protein_coding|4/4|c.105+14C>T||||||,T|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|4/4|n.*181+14C>T||||||,T|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000427407|nonsense_mediated_decay|5/5|n.*143+14C>T||||||,T|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000480608|nonsense_mediated_decay|4/4|n.*432+14C>T||||||,T|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000436645|processed_transcript|3/3|n.273+14C>T|||||| 22 18898572 . C T . . ANN=T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding||c.*2069G>A|||||1723|,T|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000608842|protein_coding||c.*457C>T|||||2790|,T|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000477156|retained_intron||n.*524C>T|||||670|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron||n.*3106G>A|||||1722|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding||c.*1640G>A|||||1722|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron||n.*2961G>A|||||1723|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron||n.*2567G>A|||||1723|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron||n.*4676G>A|||||1723|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding||c.*1592G>A|||||1723|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.*4739G>A|||||3471|,T|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000331444|protein_coding|4/4|c.513+31C>T||||||,T|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000413981|protein_coding|4/4|c.105+31C>T||||||,T|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|4/4|n.*181+31C>T||||||,T|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000427407|nonsense_mediated_decay|5/5|n.*143+31C>T||||||,T|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000480608|nonsense_mediated_decay|4/4|n.*432+31C>T||||||,T|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000436645|processed_transcript|3/3|n.273+31C>T|||||| 22 18898582 . T G . . ANN=G|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding||c.*2069A>C|||||1713|,G|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000608842|protein_coding||c.*457T>G|||||2800|,G|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000477156|retained_intron||n.*524T>G|||||680|,G|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron||n.*3106A>C|||||1712|,G|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding||c.*1640A>C|||||1712|,G|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron||n.*2961A>C|||||1713|,G|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron||n.*2567A>C|||||1713|,G|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron||n.*4676A>C|||||1713|,G|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding||c.*1592A>C|||||1713|,G|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.*4739A>C|||||3461|,G|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000331444|protein_coding|4/4|c.513+41T>G||||||,G|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000413981|protein_coding|4/4|c.105+41T>G||||||,G|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|4/4|n.*181+41T>G||||||,G|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000427407|nonsense_mediated_decay|5/5|n.*143+41T>G||||||,G|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000480608|nonsense_mediated_decay|4/4|n.*432+41T>G||||||,G|intron_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000436645|processed_transcript|3/3|n.273+41T>G|||||| 22 18900645 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|14/14|c.*43G>A|||||43|,T|3_prime_UTR_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|5/5|n.*1774C>T|||||2900|,T|3_prime_UTR_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|14/14|c.*43G>A|||||43|,T|3_prime_UTR_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|14/14|c.*43G>A|||||43|,T|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000331444|protein_coding||c.*815C>T|||||1044|,T|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000413981|protein_coding||c.*640C>T|||||1044|,T|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000427407|nonsense_mediated_decay||n.*513C>T|||||1050|,T|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000608842|protein_coding||c.*457C>T|||||4863|,T|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000480608|nonsense_mediated_decay||n.*455C>T|||||1045|,T|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000477156|retained_intron||n.*524C>T|||||2743|,T|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000436645|processed_transcript||n.*812C>T|||||1054|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.*4739G>A|||||1398|,T|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|5/5|n.*1774C>T||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|13/13|n.2755G>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron|6/6|n.2611G>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron|9/9|n.2217G>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|11/11|n.4326G>A|||||| 22 18900669 . A G . . ANN=G|3_prime_UTR_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|14/14|c.*19T>C|||||19|,G|3_prime_UTR_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|5/5|n.*1798A>G|||||2924|,G|3_prime_UTR_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|14/14|c.*19T>C|||||19|,G|3_prime_UTR_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|14/14|c.*19T>C|||||19|,G|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000331444|protein_coding||c.*815A>G|||||1068|,G|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000413981|protein_coding||c.*640A>G|||||1068|,G|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000427407|nonsense_mediated_decay||n.*513A>G|||||1074|,G|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000608842|protein_coding||c.*457A>G|||||4887|,G|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000480608|nonsense_mediated_decay||n.*455A>G|||||1069|,G|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000477156|retained_intron||n.*524A>G|||||2767|,G|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000436645|processed_transcript||n.*812A>G|||||1078|,G|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.*4739T>C|||||1374|,G|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|5/5|n.*1798A>G||||||,G|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|13/13|n.2731T>C||||||,G|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron|6/6|n.2587T>C||||||,G|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron|9/9|n.2193T>C||||||,G|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|11/11|n.4302T>C|||||| 22 18900683 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|14/14|c.*5C>T|||||5|,A|3_prime_UTR_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|5/5|n.*1812G>A|||||2938|,A|3_prime_UTR_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|14/14|c.*5C>T|||||5|,A|3_prime_UTR_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|14/14|c.*5C>T|||||5|,A|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000331444|protein_coding||c.*815G>A|||||1082|,A|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000413981|protein_coding||c.*640G>A|||||1082|,A|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000427407|nonsense_mediated_decay||n.*513G>A|||||1088|,A|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000608842|protein_coding||c.*457G>A|||||4901|,A|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000480608|nonsense_mediated_decay||n.*455G>A|||||1083|,A|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000477156|retained_intron||n.*524G>A|||||2781|,A|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000436645|processed_transcript||n.*812G>A|||||1092|,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.*4739C>T|||||1360|,A|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|5/5|n.*1812G>A||||||,A|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|13/13|n.2717C>T||||||,A|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron|6/6|n.2573C>T||||||,A|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron|9/9|n.2179C>T||||||,A|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|11/11|n.4288C>T|||||| 22 18900730 . C T . . ANN=T|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|14/14|c.1761G>A|p.Leu587Leu|2027/2462|1761/1803|587/600||,T|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|14/14|c.1437G>A|p.Leu479Leu|1598/2034|1437/1479|479/492||,T|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|14/14|c.1437G>A|p.Leu479Leu|1550/1985|1437/1479|479/492||,T|3_prime_UTR_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|5/5|n.*1859C>T|||||2985|,T|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000331444|protein_coding||c.*815C>T|||||1129|,T|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000413981|protein_coding||c.*640C>T|||||1129|,T|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000427407|nonsense_mediated_decay||n.*513C>T|||||1135|,T|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000608842|protein_coding||c.*457C>T|||||4948|,T|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000480608|nonsense_mediated_decay||n.*455C>T|||||1130|,T|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000477156|retained_intron||n.*524C>T|||||2828|,T|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000436645|processed_transcript||n.*812C>T|||||1139|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.*4739G>A|||||1313|,T|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|5/5|n.*1859C>T||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|13/13|n.2670G>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron|6/6|n.2526G>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron|9/9|n.2132G>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|11/11|n.4241G>A|||||| 22 18900750 . G A . . ANN=A|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|14/14|c.1741C>T|p.Leu581Leu|2007/2462|1741/1803|581/600||,A|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|14/14|c.1417C>T|p.Leu473Leu|1578/2034|1417/1479|473/492||,A|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|14/14|c.1417C>T|p.Leu473Leu|1530/1985|1417/1479|473/492||,A|3_prime_UTR_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|5/5|n.*1879G>A|||||3005|,A|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000331444|protein_coding||c.*815G>A|||||1149|,A|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000413981|protein_coding||c.*640G>A|||||1149|,A|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000427407|nonsense_mediated_decay||n.*513G>A|||||1155|,A|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000608842|protein_coding||c.*457G>A|||||4968|,A|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000480608|nonsense_mediated_decay||n.*455G>A|||||1150|,A|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000477156|retained_intron||n.*524G>A|||||2848|,A|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000436645|processed_transcript||n.*812G>A|||||1159|,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.*4739C>T|||||1293|,A|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|5/5|n.*1879G>A||||||,A|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|13/13|n.2650C>T||||||,A|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron|6/6|n.2506C>T||||||,A|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron|9/9|n.2112C>T||||||,A|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|11/11|n.4221C>T|||||| 22 18900868 . G A,C,T . . ANN=A|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|14/14|c.1623C>T|p.Ala541Ala|1889/2462|1623/1803|541/600||,C|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|14/14|c.1623C>G|p.Ala541Ala|1889/2462|1623/1803|541/600||,T|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|14/14|c.1623C>A|p.Ala541Ala|1889/2462|1623/1803|541/600||,A|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|14/14|c.1299C>T|p.Ala433Ala|1460/2034|1299/1479|433/492||,C|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|14/14|c.1299C>G|p.Ala433Ala|1460/2034|1299/1479|433/492||,T|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|14/14|c.1299C>A|p.Ala433Ala|1460/2034|1299/1479|433/492||,A|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|14/14|c.1299C>T|p.Ala433Ala|1412/1985|1299/1479|433/492||,C|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|14/14|c.1299C>G|p.Ala433Ala|1412/1985|1299/1479|433/492||,T|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|14/14|c.1299C>A|p.Ala433Ala|1412/1985|1299/1479|433/492||,A|3_prime_UTR_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|5/5|n.*1997G>A|||||3123|,C|3_prime_UTR_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|5/5|n.*1997G>C|||||3123|,T|3_prime_UTR_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|5/5|n.*1997G>T|||||3123|,A|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000331444|protein_coding||c.*815G>A|||||1267|,C|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000331444|protein_coding||c.*815G>C|||||1267|,T|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000331444|protein_coding||c.*815G>T|||||1267|,A|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000413981|protein_coding||c.*640G>A|||||1267|,C|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000413981|protein_coding||c.*640G>C|||||1267|,T|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000413981|protein_coding||c.*640G>T|||||1267|,A|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000427407|nonsense_mediated_decay||n.*513G>A|||||1273|,C|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000427407|nonsense_mediated_decay||n.*513G>C|||||1273|,T|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000427407|nonsense_mediated_decay||n.*513G>T|||||1273|,A|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000480608|nonsense_mediated_decay||n.*455G>A|||||1268|,C|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000480608|nonsense_mediated_decay||n.*455G>C|||||1268|,T|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000480608|nonsense_mediated_decay||n.*455G>T|||||1268|,A|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000477156|retained_intron||n.*524G>A|||||2966|,C|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000477156|retained_intron||n.*524G>C|||||2966|,T|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000477156|retained_intron||n.*524G>T|||||2966|,A|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000436645|processed_transcript||n.*812G>A|||||1277|,C|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000436645|processed_transcript||n.*812G>C|||||1277|,T|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000436645|processed_transcript||n.*812G>T|||||1277|,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.*4739C>T|||||1175|,C|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.*4739C>G|||||1175|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.*4739C>A|||||1175|,A|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|5/5|n.*1997G>A||||||,C|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|5/5|n.*1997G>C||||||,T|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|5/5|n.*1997G>T||||||,A|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|13/13|n.2532C>T||||||,C|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|13/13|n.2532C>G||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|13/13|n.2532C>A||||||,A|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron|6/6|n.2388C>T||||||,C|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron|6/6|n.2388C>G||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron|6/6|n.2388C>A||||||,A|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron|9/9|n.1994C>T||||||,C|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron|9/9|n.1994C>G||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron|9/9|n.1994C>A||||||,A|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|11/11|n.4103C>T||||||,C|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|11/11|n.4103C>G||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|11/11|n.4103C>A|||||| 22 18901004 . C T . . ANN=T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|13/14|c.1562G>A|p.Arg521Gln|1828/2462|1562/1803|521/600||,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|13/14|c.1238G>A|p.Arg413Gln|1399/2034|1238/1479|413/492||,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|13/14|c.1238G>A|p.Arg413Gln|1351/1985|1238/1479|413/492||,T|3_prime_UTR_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|5/5|n.*2133C>T|||||3259|,T|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000331444|protein_coding||c.*815C>T|||||1403|,T|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000413981|protein_coding||c.*640C>T|||||1403|,T|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000427407|nonsense_mediated_decay||n.*513C>T|||||1409|,T|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000480608|nonsense_mediated_decay||n.*455C>T|||||1404|,T|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000477156|retained_intron||n.*524C>T|||||3102|,T|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000436645|processed_transcript||n.*812C>T|||||1413|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.*4739G>A|||||1039|,T|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|5/5|n.*2133C>T||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|12/13|n.2471G>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron|5/6|n.2327G>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron|8/9|n.1933G>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|10/11|n.4042G>A|||||| 22 18901006 . G A . . ANN=A|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|13/14|c.1560C>T|p.His520His|1826/2462|1560/1803|520/600||,A|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|13/14|c.1236C>T|p.His412His|1397/2034|1236/1479|412/492||,A|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|13/14|c.1236C>T|p.His412His|1349/1985|1236/1479|412/492||,A|3_prime_UTR_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|5/5|n.*2135G>A|||||3261|,A|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000331444|protein_coding||c.*815G>A|||||1405|,A|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000413981|protein_coding||c.*640G>A|||||1405|,A|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000427407|nonsense_mediated_decay||n.*513G>A|||||1411|,A|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000480608|nonsense_mediated_decay||n.*455G>A|||||1406|,A|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000477156|retained_intron||n.*524G>A|||||3104|,A|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000436645|processed_transcript||n.*812G>A|||||1415|,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.*4739C>T|||||1037|,A|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|5/5|n.*2135G>A||||||,A|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|12/13|n.2469C>T||||||,A|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron|5/6|n.2325C>T||||||,A|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron|8/9|n.1931C>T||||||,A|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|10/11|n.4040C>T|||||| 22 18904489 . G A . . ANN=A|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|12/14|c.1440C>T|p.Tyr480Tyr|1706/2462|1440/1803|480/600||,A|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|12/14|c.1116C>T|p.Tyr372Tyr|1277/2034|1116/1479|372/492||,A|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|12/14|c.1116C>T|p.Tyr372Tyr|1229/1985|1116/1479|372/492||,A|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000331444|protein_coding||c.*815G>A|||||4888|,A|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000413981|protein_coding||c.*640G>A|||||4888|,A|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay||n.*365G>A|||||2738|,A|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000427407|nonsense_mediated_decay||n.*513G>A|||||4894|,A|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000480608|nonsense_mediated_decay||n.*455G>A|||||4889|,A|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000436645|processed_transcript||n.*812G>A|||||4898|,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000446371|retained_intron||n.*441C>T|||||2580|,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding||c.*553C>T|||||4405|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|11/13|n.2349C>T||||||,A|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron|4/6|n.2205C>T||||||,A|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron|7/9|n.1811C>T||||||,A|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|9/11|n.3920C>T||||||,A|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron|3/3|n.2293C>T|||||| 22 18905882 . G T . . ANN=T|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|11/14|c.1374C>A|p.Gly458Gly|1640/2462|1374/1803|458/600||,T|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|11/14|c.1050C>A|p.Gly350Gly|1211/2034|1050/1479|350/492||,T|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|11/14|c.1050C>A|p.Gly350Gly|1163/1985|1050/1479|350/492||,T|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay||n.*365G>T|||||4131|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000446371|retained_intron||n.*441C>A|||||1187|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding||c.*553C>A|||||3012|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000399694|retained_intron||n.*472C>A|||||3877|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding||c.*594C>A|||||4003|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding||c.*491C>A|||||4511|WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|10/13|n.2283C>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron|3/6|n.2139C>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron|6/9|n.1745C>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|8/11|n.3854C>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron|2/3|n.2227C>A|||||| 22 18905978 . G A . . ANN=A|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|11/14|c.1278C>T|p.Asp426Asp|1544/2462|1278/1803|426/600||,A|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|11/14|c.954C>T|p.Asp318Asp|1115/2034|954/1479|318/492||,A|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|11/14|c.954C>T|p.Asp318Asp|1067/1985|954/1479|318/492||,A|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay||n.*365G>A|||||4227|,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000446371|retained_intron||n.*441C>T|||||1091|,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding||c.*553C>T|||||2916|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000399694|retained_intron||n.*472C>T|||||3781|,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding||c.*594C>T|||||3907|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding||c.*491C>T|||||4415|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|10/13|n.2187C>T||||||,A|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron|3/6|n.2043C>T||||||,A|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron|6/9|n.1649C>T||||||,A|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|8/11|n.3758C>T||||||,A|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron|2/3|n.2131C>T|||||| 22 18907124 . G A . . ANN=A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding||c.*553C>T|||||1770|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000399694|retained_intron||n.*472C>T|||||2635|,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding||c.*594C>T|||||2761|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding||c.*491C>T|||||3269|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|9/13|c.1105-14C>T||||||,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|8/12|n.2014-14C>T||||||,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|9/13|c.781-14C>T||||||,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron|1/5|n.1870-14C>T||||||,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|6/10|n.3585-14C>T||||||,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|9/13|c.781-14C>T||||||,A|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron|5/9|n.1462C>T||||||,A|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron|1/3|n.1944C>T||||||,A|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000446371|retained_intron|2/2|n.386C>T|||||| 22 18907156 . G C . . ANN=C|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding||c.*553C>G|||||1738|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000399694|retained_intron||n.*472C>G|||||2603|,C|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding||c.*594C>G|||||2729|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding||c.*491C>G|||||3237|WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|9/13|c.1105-46C>G||||||,C|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|8/12|n.2014-46C>G||||||,C|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|9/13|c.781-46C>G||||||,C|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron|1/5|n.1870-46C>G||||||,C|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron|4/8|n.1442-12C>G||||||,C|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|6/10|n.3585-46C>G||||||,C|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|9/13|c.781-46C>G||||||,C|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron|1/3|n.1912C>G||||||,C|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000446371|retained_intron|2/2|n.354C>G|||||| 22 18907160 . G A . . ANN=A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding||c.*553C>T|||||1734|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000399694|retained_intron||n.*472C>T|||||2599|,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding||c.*594C>T|||||2725|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding||c.*491C>T|||||3233|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|9/13|c.1105-50C>T||||||,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|8/12|n.2014-50C>T||||||,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|9/13|c.781-50C>T||||||,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron|1/5|n.1870-50C>T||||||,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron|4/8|n.1442-16C>T||||||,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|6/10|n.3585-50C>T||||||,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|9/13|c.781-50C>T||||||,A|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron|1/3|n.1908C>T||||||,A|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000446371|retained_intron|2/2|n.350C>T|||||| 22 18907192 . A C . . ANN=C|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding||c.*553T>G|||||1702|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000399694|retained_intron||n.*472T>G|||||2567|,C|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding||c.*594T>G|||||2693|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding||c.*491T>G|||||3201|WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|9/13|c.1104+27T>G||||||,C|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|8/12|n.2013+27T>G||||||,C|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|9/13|c.780+27T>G||||||,C|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron|1/5|n.1869+27T>G||||||,C|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron|4/8|n.1441+27T>G||||||,C|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|6/10|n.3584+27T>G||||||,C|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|9/13|c.780+27T>G||||||,C|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron|1/3|n.1876T>G||||||,C|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000446371|retained_intron|2/2|n.318T>G|||||| 22 18907207 . G A . . ANN=A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding||c.*553C>T|||||1687|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000399694|retained_intron||n.*472C>T|||||2552|,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding||c.*594C>T|||||2678|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding||c.*491C>T|||||3186|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|9/13|c.1104+12C>T||||||,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|8/12|n.2013+12C>T||||||,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|9/13|c.780+12C>T||||||,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron|1/5|n.1869+12C>T||||||,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron|4/8|n.1441+12C>T||||||,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|6/10|n.3584+12C>T||||||,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|9/13|c.780+12C>T||||||,A|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron|1/3|n.1861C>T||||||,A|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000446371|retained_intron|2/2|n.303C>T|||||| 22 18907349 . G A . . ANN=A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding||c.*553C>T|||||1545|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000399694|retained_intron||n.*472C>T|||||2410|,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding||c.*594C>T|||||2536|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding||c.*491C>T|||||3044|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000496625|retained_intron||n.*632C>T|||||4889|,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|8/13|c.1012-38C>T||||||,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|7/12|n.1921-38C>T||||||,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|8/13|c.688-38C>T||||||,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron|3/8|n.1349-38C>T||||||,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|8/13|c.688-38C>T||||||,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000446371|retained_intron|1/1|n.199-38C>T||||||,A|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron|1/6|n.1739C>T||||||,A|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|6/11|n.3454C>T||||||,A|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron|1/3|n.1719C>T|||||| 22 18907359 . C T . . ANN=T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding||c.*553G>A|||||1535|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000399694|retained_intron||n.*472G>A|||||2400|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding||c.*594G>A|||||2526|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding||c.*491G>A|||||3034|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000496625|retained_intron||n.*632G>A|||||4879|,T|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|8/13|c.1012-48G>A||||||,T|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|7/12|n.1921-48G>A||||||,T|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|8/13|c.688-48G>A||||||,T|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron|3/8|n.1349-48G>A||||||,T|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|8/13|c.688-48G>A||||||,T|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000446371|retained_intron|1/1|n.199-48G>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron|1/6|n.1729G>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|6/11|n.3444G>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron|1/3|n.1709G>A|||||| 22 18908809 . G A . . ANN=A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding||c.*553C>T|||||85|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000399694|retained_intron||n.*472C>T|||||950|,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding||c.*594C>T|||||1076|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding||c.*491C>T|||||1584|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000496625|retained_intron||n.*632C>T|||||3429|,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|8/13|c.1011+46C>T||||||,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|7/12|n.1920+46C>T||||||,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|8/13|c.687+46C>T||||||,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron|3/8|n.1348+46C>T||||||,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|8/13|c.687+46C>T||||||,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000446371|retained_intron|1/1|n.198+46C>T||||||,A|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron|1/6|n.279C>T||||||,A|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|6/11|n.1994C>T||||||,A|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron|1/3|n.259C>T|||||| 22 18908875 . A G . . ANN=G|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|8/14|c.991T>C|p.Leu331Leu|1257/2462|991/1803|331/600||,G|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|8/14|c.667T>C|p.Leu223Leu|828/2034|667/1479|223/492||,G|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|8/14|c.667T>C|p.Leu223Leu|780/1985|667/1479|223/492||,G|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding||c.*553T>C|||||19|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000399694|retained_intron||n.*472T>C|||||884|,G|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding||c.*594T>C|||||1010|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding||c.*491T>C|||||1518|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000496625|retained_intron||n.*632T>C|||||3363|,G|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|7/13|n.1900T>C||||||,G|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron|1/6|n.213T>C||||||,G|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron|3/9|n.1328T>C||||||,G|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|6/11|n.1928T>C||||||,G|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron|1/3|n.193T>C||||||,G|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000446371|retained_intron|1/2|n.178T>C|||||| 22 18908951 . G A . . ANN=A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000399694|retained_intron||n.*472C>T|||||808|,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding||c.*594C>T|||||934|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding||c.*491C>T|||||1442|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000496625|retained_intron||n.*632C>T|||||3287|,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|7/13|c.930-15C>T||||||,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|7/13|c.606-15C>T||||||,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron|2/8|n.1267-15C>T||||||,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|7/13|c.606-15C>T||||||,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding|5/5|c.510-15C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|7/13|n.1824C>T||||||,A|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron|1/6|n.137C>T||||||,A|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|6/11|n.1852C>T||||||,A|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron|1/3|n.117C>T||||||,A|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000446371|retained_intron|1/2|n.102C>T|||||| 22 18908958 . C G . . ANN=G|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000399694|retained_intron||n.*472G>C|||||801|,G|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding||c.*594G>C|||||927|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding||c.*491G>C|||||1435|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000496625|retained_intron||n.*632G>C|||||3280|,G|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|7/13|c.930-22G>C||||||,G|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|7/13|c.606-22G>C||||||,G|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron|2/8|n.1267-22G>C||||||,G|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|7/13|c.606-22G>C||||||,G|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding|5/5|c.510-22G>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|7/13|n.1817G>C||||||,G|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron|1/6|n.130G>C||||||,G|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|6/11|n.1845G>C||||||,G|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron|1/3|n.110G>C||||||,G|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000446371|retained_intron|1/2|n.95G>C|||||| 22 18910283 . CA C . . ANN=|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron||n.-1delT|||||1197|,|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.-1delT|||||1217|,|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000446371|retained_intron||n.-1delT|||||1232|,|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding||c.*491delT|||||109|WARNING_TRANSCRIPT_NO_START_CODON,|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000496625|retained_intron||n.*632delT|||||1954|,|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|6/13|c.849+46delT||||||,|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|6/12|n.857+46delT||||||,|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|6/13|c.525+46delT||||||,|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron|1/8|n.1186+46delT||||||,|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|5/10|n.885+46delT||||||,|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|6/13|c.525+46delT||||||,|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding|4/5|c.429+46delT||||||WARNING_TRANSCRIPT_NO_START_CODON,|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000399694|retained_intron|2/2|n.313+46delT||||||,|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding|6/6|c.372+46delT||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 18910284 . AC A . . ANN=|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron||n.-1delG|||||1198|,|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.-1delG|||||1218|,|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000446371|retained_intron||n.-1delG|||||1233|,|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding||c.*491delG|||||108|WARNING_TRANSCRIPT_NO_START_CODON,|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000496625|retained_intron||n.*632delG|||||1953|,|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|6/13|c.849+45delG||||||,|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|6/12|n.857+45delG||||||,|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|6/13|c.525+45delG||||||,|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron|1/8|n.1186+45delG||||||,|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|5/10|n.885+45delG||||||,|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|6/13|c.525+45delG||||||,|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding|4/5|c.429+45delG||||||WARNING_TRANSCRIPT_NO_START_CODON,|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000399694|retained_intron|2/2|n.313+45delG||||||,|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding|6/6|c.372+45delG||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 18910301 . A G . . ANN=G|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron||n.-1T>C|||||1214|,G|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.-1T>C|||||1234|,G|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000446371|retained_intron||n.-1T>C|||||1249|,G|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding||c.*491T>C|||||92|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000496625|retained_intron||n.*632T>C|||||1937|,G|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|6/13|c.849+29T>C||||||,G|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|6/12|n.857+29T>C||||||,G|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|6/13|c.525+29T>C||||||,G|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron|1/8|n.1186+29T>C||||||,G|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|5/10|n.885+29T>C||||||,G|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|6/13|c.525+29T>C||||||,G|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding|4/5|c.429+29T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000399694|retained_intron|2/2|n.313+29T>C||||||,G|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding|6/6|c.372+29T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 18910355 . G T . . ANN=T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|6/14|c.824C>A|p.Thr275Asn|1090/2462|824/1803|275/600||,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|6/14|c.500C>A|p.Thr167Asn|661/2034|500/1479|167/492||,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|6/14|c.500C>A|p.Thr167Asn|613/1985|500/1479|167/492||,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding|4/6|c.404C>A|p.Thr135Asn|405/553|404/552|135/183||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding|6/7|c.347C>A|p.Thr116Asn|536/594|347/405|116/134||WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron||n.-1C>A|||||1268|,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.-1C>A|||||1288|,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000446371|retained_intron||n.-1C>A|||||1303|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding||c.*491C>A|||||38|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000496625|retained_intron||n.*632C>A|||||1883|,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|6/13|n.832C>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron|1/9|n.1161C>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|5/11|n.860C>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000399694|retained_intron|2/3|n.288C>A|||||| 22 18910357 . G A . . ANN=A|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|6/14|c.822C>T|p.Asp274Asp|1088/2462|822/1803|274/600||,A|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|6/14|c.498C>T|p.Asp166Asp|659/2034|498/1479|166/492||,A|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|6/14|c.498C>T|p.Asp166Asp|611/1985|498/1479|166/492||,A|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding|4/6|c.402C>T|p.Asp134Asp|403/553|402/552|134/183||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding|6/7|c.345C>T|p.Asp115Asp|534/594|345/405|115/134||WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron||n.-1C>T|||||1270|,A|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.-1C>T|||||1290|,A|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000446371|retained_intron||n.-1C>T|||||1305|,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding||c.*491C>T|||||36|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000496625|retained_intron||n.*632C>T|||||1881|,A|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|6/13|n.830C>T||||||,A|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron|1/9|n.1159C>T||||||,A|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|5/11|n.858C>T||||||,A|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000399694|retained_intron|2/3|n.286C>T|||||| 22 18910450 . CA C . . ANN=|splice_region_variant&intron_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|5/13|c.733-5delT||||||,|splice_region_variant&intron_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|5/12|n.741-5delT||||||,|splice_region_variant&intron_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|5/13|c.409-5delT||||||,|splice_region_variant&intron_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|5/13|c.409-5delT||||||,|splice_region_variant&intron_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding|3/5|c.313-5delT||||||WARNING_TRANSCRIPT_NO_START_CODON,|splice_region_variant&intron_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000399694|retained_intron|1/2|n.197-5delT||||||,|splice_region_variant&intron_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding|5/6|c.256-5delT||||||WARNING_TRANSCRIPT_NO_STOP_CODON,|splice_region_variant&intron_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding|3/3|c.436-5delT||||||WARNING_TRANSCRIPT_NO_START_CODON,|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron||n.-1delT|||||1364|,|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.-1delT|||||1384|,|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000446371|retained_intron||n.-1delT|||||1399|,|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000496625|retained_intron||n.*632delT|||||1787|,|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron|1/9|n.1065delT||||||,|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|5/11|n.764delT|||||| 22 18910479 . C T . . ANN=T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron||n.-1G>A|||||1392|,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.-1G>A|||||1412|,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000446371|retained_intron||n.-1G>A|||||1427|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000496625|retained_intron||n.*632G>A|||||1759|,T|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|5/13|c.733-33G>A||||||,T|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|5/12|n.741-33G>A||||||,T|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|5/13|c.409-33G>A||||||,T|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|5/13|c.409-33G>A||||||,T|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding|3/5|c.313-33G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000399694|retained_intron|1/2|n.197-33G>A||||||,T|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding|5/6|c.256-33G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding|3/3|c.436-33G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron|1/9|n.1037G>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|5/11|n.736G>A|||||| 22 18912518 . A C . . ANN=C|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron||n.-1T>G|||||3431|,C|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron||n.-1T>G|||||1003|,C|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.-1T>G|||||3451|,C|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000446371|retained_intron||n.-1T>G|||||3466|,C|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000399694|retained_intron||n.-1T>G|||||1695|,C|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|4/13|c.667+46T>G||||||,C|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|4/12|n.675+46T>G||||||,C|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|4/13|c.343+46T>G||||||,C|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|4/10|n.522+46T>G||||||,C|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|4/13|c.343+46T>G||||||,C|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding|3/5|c.312+46T>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding|4/6|c.190+46T>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding|3/3|c.435+46T>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000496625|retained_intron|3/3|n.352T>G|||||| 22 18912531 . G A . . ANN=A|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron||n.-1C>T|||||3444|,A|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron||n.-1C>T|||||1016|,A|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.-1C>T|||||3464|,A|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000446371|retained_intron||n.-1C>T|||||3479|,A|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000399694|retained_intron||n.-1C>T|||||1708|,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|4/13|c.667+33C>T||||||,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|4/12|n.675+33C>T||||||,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|4/13|c.343+33C>T||||||,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|4/10|n.522+33C>T||||||,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|4/13|c.343+33C>T||||||,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding|3/5|c.312+33C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding|4/6|c.190+33C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding|3/3|c.435+33C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000496625|retained_intron|3/3|n.339C>T|||||| 22 18912581 . C T . . ANN=T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|4/14|c.650G>A|p.Arg217His|916/2462|650/1803|217/600||,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|4/14|c.326G>A|p.Arg109His|487/2034|326/1479|109/492||,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|4/14|c.326G>A|p.Arg109His|439/1985|326/1479|109/492||,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding|3/6|c.295G>A|p.Ala99Thr|296/553|295/552|99/183||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding|4/7|c.173G>A|p.Arg58His|362/594|173/405|58/134||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding|3/4|c.418G>A|p.Ala140Thr|420/491|418/489|140/162||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron||n.-1G>A|||||3494|,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron||n.-1G>A|||||1066|,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.-1G>A|||||3514|,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000446371|retained_intron||n.-1G>A|||||3529|,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000399694|retained_intron||n.-1G>A|||||1758|,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|4/13|n.658G>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|4/11|n.505G>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000496625|retained_intron|3/3|n.289G>A|||||| 22 18912606 . C T . . ANN=T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|4/14|c.625G>A|p.Asp209Asn|891/2462|625/1803|209/600||,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|4/14|c.301G>A|p.Asp101Asn|462/2034|301/1479|101/492||,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|4/14|c.301G>A|p.Asp101Asn|414/1985|301/1479|101/492||,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding|4/7|c.148G>A|p.Asp50Asn|337/594|148/405|50/134||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding|3/6|c.270G>A|p.Ala90Ala|271/553|270/552|90/183||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding|3/4|c.393G>A|p.Ala131Ala|395/491|393/489|131/162||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron||n.-1G>A|||||3519|,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron||n.-1G>A|||||1091|,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.-1G>A|||||3539|,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000446371|retained_intron||n.-1G>A|||||3554|,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000399694|retained_intron||n.-1G>A|||||1783|,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|4/13|n.633G>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|4/11|n.480G>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000496625|retained_intron|3/3|n.264G>A|||||| 22 18912612 . T G . . ANN=G|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|4/14|c.619A>C|p.Lys207Gln|885/2462|619/1803|207/600||,G|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|4/14|c.295A>C|p.Lys99Gln|456/2034|295/1479|99/492||,G|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|4/14|c.295A>C|p.Lys99Gln|408/1985|295/1479|99/492||,G|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding|4/7|c.142A>C|p.Lys48Gln|331/594|142/405|48/134||WARNING_TRANSCRIPT_NO_STOP_CODON,G|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding|3/6|c.264A>C|p.Pro88Pro|265/553|264/552|88/183||WARNING_TRANSCRIPT_NO_START_CODON,G|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding|3/4|c.387A>C|p.Pro129Pro|389/491|387/489|129/162||WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron||n.-1A>C|||||3525|,G|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron||n.-1A>C|||||1097|,G|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.-1A>C|||||3545|,G|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000446371|retained_intron||n.-1A>C|||||3560|,G|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000399694|retained_intron||n.-1A>C|||||1789|,G|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|4/13|n.627A>C||||||,G|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|4/11|n.474A>C||||||,G|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000496625|retained_intron|3/3|n.258A>C|||||| 22 18912620 . T C . . ANN=C|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|4/14|c.611A>G|p.Asn204Ser|877/2462|611/1803|204/600||,C|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|4/14|c.287A>G|p.Asn96Ser|448/2034|287/1479|96/492||,C|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|4/14|c.287A>G|p.Asn96Ser|400/1985|287/1479|96/492||,C|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding|3/6|c.256A>G|p.Met86Val|257/553|256/552|86/183||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding|4/7|c.134A>G|p.Asn45Ser|323/594|134/405|45/134||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding|3/4|c.379A>G|p.Met127Val|381/491|379/489|127/162||WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron||n.-1A>G|||||3533|,C|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron||n.-1A>G|||||1105|,C|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.-1A>G|||||3553|,C|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000446371|retained_intron||n.-1A>G|||||3568|,C|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000399694|retained_intron||n.-1A>G|||||1797|,C|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|4/13|n.619A>G||||||,C|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|4/11|n.466A>G||||||,C|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000496625|retained_intron|3/3|n.250A>G|||||| 22 18912625 . G A . . ANN=A|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding|3/6|c.251C>T|p.Thr84Met|252/553|251/552|84/183||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding|3/4|c.374C>T|p.Thr125Met|376/491|374/489|125/162||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|4/14|c.606C>T|p.Tyr202Tyr|872/2462|606/1803|202/600||,A|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|4/14|c.282C>T|p.Tyr94Tyr|443/2034|282/1479|94/492||,A|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|4/14|c.282C>T|p.Tyr94Tyr|395/1985|282/1479|94/492||,A|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding|4/7|c.129C>T|p.Tyr43Tyr|318/594|129/405|43/134||WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron||n.-1C>T|||||3538|,A|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron||n.-1C>T|||||1110|,A|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.-1C>T|||||3558|,A|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000446371|retained_intron||n.-1C>T|||||3573|,A|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000399694|retained_intron||n.-1C>T|||||1802|,A|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|4/13|n.614C>T||||||,A|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|4/11|n.461C>T||||||,A|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000496625|retained_intron|3/3|n.245C>T|||||| 22 18912653 . C T . . ANN=T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|4/14|c.578G>A|p.Gly193Asp|844/2462|578/1803|193/600||,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|4/14|c.254G>A|p.Gly85Asp|415/2034|254/1479|85/492||,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|4/14|c.254G>A|p.Gly85Asp|367/1985|254/1479|85/492||,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding|3/6|c.223G>A|p.Val75Met|224/553|223/552|75/183||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding|4/7|c.101G>A|p.Gly34Asp|290/594|101/405|34/134||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding|3/4|c.346G>A|p.Val116Met|348/491|346/489|116/162||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron||n.-1G>A|||||3566|,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron||n.-1G>A|||||1138|,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.-1G>A|||||3586|,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000446371|retained_intron||n.-1G>A|||||3601|,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000399694|retained_intron||n.-1G>A|||||1830|,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|4/13|n.586G>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|4/11|n.433G>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000496625|retained_intron|3/3|n.217G>A|||||| 22 18912662 . C T . . ANN=T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|4/14|c.569G>A|p.Arg190His|835/2462|569/1803|190/600||,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|4/14|c.245G>A|p.Arg82His|406/2034|245/1479|82/492||,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|4/14|c.245G>A|p.Arg82His|358/1985|245/1479|82/492||,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding|3/6|c.214G>A|p.Ala72Thr|215/553|214/552|72/183||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding|4/7|c.92G>A|p.Arg31His|281/594|92/405|31/134||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding|3/4|c.337G>A|p.Ala113Thr|339/491|337/489|113/162||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron||n.-1G>A|||||3575|,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron||n.-1G>A|||||1147|,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.-1G>A|||||3595|,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000446371|retained_intron||n.-1G>A|||||3610|,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000399694|retained_intron||n.-1G>A|||||1839|,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|4/13|n.577G>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|4/11|n.424G>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000496625|retained_intron|3/3|n.208G>A|||||| 22 18912677 . C T . . ANN=T|stop_gained|HIGH|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|4/14|c.554G>A|p.Trp185*|820/2462|554/1803|185/600||,T|stop_gained|HIGH|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|4/14|c.230G>A|p.Trp77*|391/2034|230/1479|77/492||,T|stop_gained|HIGH|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|4/14|c.230G>A|p.Trp77*|343/1985|230/1479|77/492||,T|stop_gained|HIGH|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding|4/7|c.77G>A|p.Trp26*|266/594|77/405|26/134||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding|3/6|c.199G>A|p.Gly67Arg|200/553|199/552|67/183||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding|3/4|c.322G>A|p.Gly108Arg|324/491|322/489|108/162||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron||n.-1G>A|||||3590|,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron||n.-1G>A|||||1162|,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.-1G>A|||||3610|,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000446371|retained_intron||n.-1G>A|||||3625|,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000399694|retained_intron||n.-1G>A|||||1854|,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|4/13|n.562G>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|4/11|n.409G>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000496625|retained_intron|3/3|n.193G>A||||||;LOF=(PRODH|ENSG00000100033|14|0.29);NMD=(PRODH|ENSG00000100033|14|0.29) 22 18912678 . A G . . ANN=G|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|4/14|c.553T>C|p.Trp185Arg|819/2462|553/1803|185/600||,G|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|4/14|c.229T>C|p.Trp77Arg|390/2034|229/1479|77/492||,G|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|4/14|c.229T>C|p.Trp77Arg|342/1985|229/1479|77/492||,G|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding|4/7|c.76T>C|p.Trp26Arg|265/594|76/405|26/134||WARNING_TRANSCRIPT_NO_STOP_CODON,G|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding|3/6|c.198T>C|p.Thr66Thr|199/553|198/552|66/183||WARNING_TRANSCRIPT_NO_START_CODON,G|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding|3/4|c.321T>C|p.Thr107Thr|323/491|321/489|107/162||WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron||n.-1T>C|||||3591|,G|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron||n.-1T>C|||||1163|,G|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.-1T>C|||||3611|,G|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000446371|retained_intron||n.-1T>C|||||3626|,G|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000399694|retained_intron||n.-1T>C|||||1855|,G|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|4/13|n.561T>C||||||,G|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|4/11|n.408T>C||||||,G|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000496625|retained_intron|3/3|n.192T>C|||||| 22 18912761 . C G . . ANN=G|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron||n.-1G>C|||||3674|,G|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron||n.-1G>C|||||1246|,G|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.-1G>C|||||3694|,G|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000446371|retained_intron||n.-1G>C|||||3709|,G|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000399694|retained_intron||n.-1G>C|||||1938|,G|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|3/13|c.518-48G>C||||||,G|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|3/12|n.526-48G>C||||||,G|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|3/13|c.194-48G>C||||||,G|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|3/10|n.373-48G>C||||||,G|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|3/13|c.194-48G>C||||||,G|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding|2/5|c.163-48G>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding|3/6|c.41-48G>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding|2/3|c.286-48G>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000496625|retained_intron|2/2|n.157-48G>C|||||| 22 18913156 . G A . . ANN=A|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron||n.-1C>T|||||4069|,A|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron||n.-1C>T|||||1641|,A|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.-1C>T|||||4089|,A|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000446371|retained_intron||n.-1C>T|||||4104|,A|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000399694|retained_intron||n.-1C>T|||||2333|,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|3/13|c.517+45C>T||||||,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|3/12|n.525+45C>T||||||,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|3/13|c.193+45C>T||||||,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|3/10|n.372+45C>T||||||,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|3/13|c.193+45C>T||||||,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding|2/5|c.162+45C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding|3/6|c.40+45C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding|2/3|c.285+45C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000496625|retained_intron|2/2|n.156+45C>T|||||| 22 18913208 . A T . . ANN=T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|3/14|c.510T>A|p.Asp170Glu|776/2462|510/1803|170/600||,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|3/14|c.186T>A|p.Asp62Glu|347/2034|186/1479|62/492||,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|3/14|c.186T>A|p.Asp62Glu|299/1985|186/1479|62/492||,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding|2/6|c.155T>A|p.Met52Lys|156/553|155/552|52/183||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding|3/7|c.33T>A|p.Asp11Glu|222/594|33/405|11/134||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding|2/4|c.278T>A|p.Met93Lys|280/491|278/489|93/162||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron||n.-1T>A|||||4121|,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron||n.-1T>A|||||1693|,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.-1T>A|||||4141|,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000446371|retained_intron||n.-1T>A|||||4156|,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000399694|retained_intron||n.-1T>A|||||2385|,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|3/13|n.518T>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|3/11|n.365T>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000496625|retained_intron|2/3|n.149T>A|||||| 22 18913245 . G A . . ANN=A|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron||n.-1C>T|||||4158|,A|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron||n.-1C>T|||||1730|,A|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.-1C>T|||||4178|,A|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000446371|retained_intron||n.-1C>T|||||4193|,A|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000399694|retained_intron||n.-1C>T|||||2422|,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|2/13|c.483-10C>T||||||,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|2/12|n.491-10C>T||||||,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|2/13|c.159-10C>T||||||,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|2/10|n.338-10C>T||||||,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|2/13|c.159-10C>T||||||,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding|1/5|c.128-10C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding|2/6|c.6-10C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding|1/3|c.251-10C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000496625|retained_intron|1/2|n.122-10C>T|||||| 22 18913273 . G A . . ANN=A|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron||n.-1C>T|||||4186|,A|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron||n.-1C>T|||||1758|,A|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.-1C>T|||||4206|,A|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000446371|retained_intron||n.-1C>T|||||4221|,A|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000399694|retained_intron||n.-1C>T|||||2450|,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|2/13|c.483-38C>T||||||,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|2/12|n.491-38C>T||||||,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|2/13|c.159-38C>T||||||,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|2/10|n.338-38C>T||||||,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|2/13|c.159-38C>T||||||,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding|1/5|c.128-38C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding|2/6|c.6-38C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding|1/3|c.251-38C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000496625|retained_intron|1/2|n.122-38C>T|||||| 22 18913277 . C G . . ANN=G|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron||n.-1G>C|||||4190|,G|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron||n.-1G>C|||||1762|,G|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.-1G>C|||||4210|,G|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000446371|retained_intron||n.-1G>C|||||4225|,G|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000399694|retained_intron||n.-1G>C|||||2454|,G|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|2/13|c.483-42G>C||||||,G|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|2/12|n.491-42G>C||||||,G|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|2/13|c.159-42G>C||||||,G|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|2/10|n.338-42G>C||||||,G|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|2/13|c.159-42G>C||||||,G|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding|1/5|c.128-42G>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding|2/6|c.6-42G>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding|1/3|c.251-42G>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000496625|retained_intron|1/2|n.122-42G>C|||||| 22 18918464 . T G . . ANN=G|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|2/13|c.482+39A>C||||||,G|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|2/12|n.490+39A>C||||||,G|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|2/13|c.158+39A>C||||||,G|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|2/10|n.337+39A>C||||||,G|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|2/13|c.158+39A>C||||||,G|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding|1/5|c.127+5064A>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding|2/6|c.5+39A>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding|1/3|c.250+5064A>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000496625|retained_intron|1/2|n.121+39A>C|||||| 22 18918593 . C T . . ANN=T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|2/14|c.392G>A|p.Arg131Gln|658/2462|392/1803|131/600||,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|2/14|c.68G>A|p.Arg23Gln|229/2034|68/1479|23/492||,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|2/14|c.68G>A|p.Arg23Gln|181/1985|68/1479|23/492||,T|5_prime_UTR_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding|2/7|c.-86G>A|||||86|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding|1/5|c.127+4935G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding|1/3|c.250+4935G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|2/13|n.400G>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|2/11|n.247G>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000496625|retained_intron|1/3|n.31G>A|||||| 22 18918666 . T C . . ANN=C|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|2/14|c.319A>G|p.Lys107Glu|585/2462|319/1803|107/600||,C|5_prime_UTR_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|2/14|c.-6A>G|||||6|,C|5_prime_UTR_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|2/14|c.-6A>G|||||6|,C|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000496625|retained_intron||n.-1A>G|||||43|,C|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding|1/5|c.127+4862A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding|1/6|c.-122-37A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding|1/3|c.250+4862A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|2/13|n.327A>G||||||,C|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|2/11|n.174A>G|||||| 22 18918732 . G A . . ANN=A|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000496625|retained_intron||n.-1C>T|||||109|,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|1/13|c.274-21C>T||||||,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|1/12|n.282-21C>T||||||,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|1/13|c.-34-38C>T||||||,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|1/10|n.129-21C>T||||||,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|1/13|c.-51-21C>T||||||,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding|1/5|c.127+4796C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding|1/6|c.-122-103C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding|1/3|c.250+4796C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 18918760 . T C . . ANN=C|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000496625|retained_intron||n.-1A>G|||||137|,C|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|1/13|c.274-49A>G||||||,C|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|1/12|n.282-49A>G||||||,C|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|1/13|c.-34-66A>G||||||,C|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|1/10|n.129-49A>G||||||,C|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|1/13|c.-51-49A>G||||||,C|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding|1/5|c.127+4768A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding|1/6|c.-122-131A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding|1/3|c.250+4768A>G||||||WARNING_TRANSCRIPT_NO_START_CODON 22 18923524 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|1/13|c.273+4C>T||||||,A|splice_region_variant&intron_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|1/12|n.281+4C>T||||||,A|splice_region_variant&intron_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|1/10|n.128+4C>T||||||,A|splice_region_variant&intron_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding|1/5|c.127+4C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|splice_region_variant&intron_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding|1/3|c.250+4C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding||c.-190C>T|||||1183|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000496625|retained_intron||n.-1C>T|||||4901|,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|1/13|c.-35+159C>T||||||,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|1/13|c.-52+379C>T|||||| 22 18923585 . C G . . ANN=G|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding|1/6|c.70G>C|p.Glu24Gln|71/553|70/552|24/183||WARNING_TRANSCRIPT_NO_START_CODON,G|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding|1/4|c.193G>C|p.Glu65Gln|195/491|193/489|65/162||WARNING_TRANSCRIPT_NO_START_CODON,G|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|1/14|c.216G>C|p.Arg72Arg|482/2462|216/1803|72/600||,G|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding||c.-190G>C|||||1244|WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000496625|retained_intron||n.-1G>C|||||4962|,G|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|1/13|c.-35+98G>C||||||,G|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|1/13|c.-52+318G>C||||||,G|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|1/13|n.224G>C||||||,G|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|1/11|n.71G>C|||||| 22 18923629 . C T . . ANN=T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|1/14|c.172G>A|p.Ala58Thr|438/2462|172/1803|58/600||,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding|1/6|c.26G>A|p.Arg9His|27/553|26/552|9/183||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding|1/4|c.149G>A|p.Arg50His|151/491|149/489|50/162||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding||c.-190G>A|||||1288|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|1/13|c.-35+54G>A||||||,T|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|1/13|c.-52+274G>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|1/13|n.180G>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|1/11|n.27G>A|||||| 22 18923713 . G A . . ANN=A|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|1/14|c.88C>T|p.Pro30Ser|354/2462|88/1803|30/600||,A|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding|1/4|c.65C>T|p.Ala22Val|67/491|65/489|22/162||WARNING_TRANSCRIPT_NO_START_CODON,A|5_prime_UTR_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|1/14|c.-65C>T|||||5053|,A|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron||n.-1C>T|||||58|,A|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding||c.-2C>T|||||58|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding||c.-190C>T|||||1372|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|1/13|c.-52+190C>T||||||,A|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|1/13|n.96C>T|||||| 22 18923745 . G T . . ANN=T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|1/14|c.56C>A|p.Pro19Gln|322/2462|56/1803|19/600||,T|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding|1/4|c.33C>A|p.Pro11Pro|35/491|33/489|11/162||WARNING_TRANSCRIPT_NO_START_CODON,T|5_prime_UTR_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|1/14|c.-97C>A|||||5085|,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron||n.-1C>A|||||90|,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding||c.-2C>A|||||90|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding||c.-190C>A|||||1404|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|1/13|c.-52+158C>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|1/13|n.64C>A|||||| 22 19026331 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|10/10|c.*47A>G|||||47|,C|3_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|9/9|c.*47A>G|||||47|,C|3_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|11/11|n.*47A>G|||||47|,C|3_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|11/11|c.*1271A>G|||||21944|,C|upstream_gene_variant|MODIFIER|CA15P1|ENSG00000241527|transcript|ENST00000481698|unitary_pseudogene||n.-1A>G|||||4254|,C|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|11/11|n.*47A>G||||||,C|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000467659|retained_intron|4/4|n.1478A>G|||||| 22 19026332 . A G . . ANN=G|3_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|10/10|c.*46T>C|||||46|,G|3_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|9/9|c.*46T>C|||||46|,G|3_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|11/11|n.*46T>C|||||46|,G|3_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|11/11|c.*1270T>C|||||21943|,G|upstream_gene_variant|MODIFIER|CA15P1|ENSG00000241527|transcript|ENST00000481698|unitary_pseudogene||n.-1T>C|||||4255|,G|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|11/11|n.*46T>C||||||,G|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000467659|retained_intron|4/4|n.1477T>C|||||| 22 19026337 . A G . . ANN=G|3_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|10/10|c.*41T>C|||||41|,G|3_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|9/9|c.*41T>C|||||41|,G|3_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|11/11|n.*41T>C|||||41|,G|3_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|11/11|c.*1265T>C|||||21938|,G|upstream_gene_variant|MODIFIER|CA15P1|ENSG00000241527|transcript|ENST00000481698|unitary_pseudogene||n.-1T>C|||||4260|,G|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|11/11|n.*41T>C||||||,G|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000467659|retained_intron|4/4|n.1472T>C|||||| 22 19026356 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|10/10|c.*22C>T|||||22|,A|3_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|9/9|c.*22C>T|||||22|,A|3_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|11/11|n.*22C>T|||||22|,A|3_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|11/11|c.*1246C>T|||||21919|,A|upstream_gene_variant|MODIFIER|CA15P1|ENSG00000241527|transcript|ENST00000481698|unitary_pseudogene||n.-1C>T|||||4279|,A|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|11/11|n.*22C>T||||||,A|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000467659|retained_intron|4/4|n.1453C>T|||||| 22 19026413 . G A . . ANN=A|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|10/10|c.1618C>T|p.Arg540Cys|1866/4480|1618/1653|540/550||,A|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|9/9|c.1495C>T|p.Arg499Cys|1743/4361|1495/1530|499/509||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|10/10|c.1618C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|8/10|c.1618C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|9/10|c.1618C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|7/9|c.1495C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|9/9|c.1495C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|8/9|c.1495C>T||||||,A|3_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|11/11|c.*1189C>T|||||21862|,A|upstream_gene_variant|MODIFIER|CA15P1|ENSG00000241527|transcript|ENST00000481698|unitary_pseudogene||n.-1C>T|||||4336|,A|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|11/11|n.946C>T||||||,A|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000467659|retained_intron|4/4|n.1396C>T|||||| 22 19026480 . C G . . ANN=G|synonymous_variant|LOW|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|10/10|c.1551G>C|p.Leu517Leu|1799/4480|1551/1653|517/550||,G|synonymous_variant|LOW|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|9/9|c.1428G>C|p.Leu476Leu|1676/4361|1428/1530|476/509||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|10/10|c.1551G>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|8/10|c.1551G>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|9/10|c.1551G>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|7/9|c.1428G>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|9/9|c.1428G>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|8/9|c.1428G>C||||||,G|3_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|11/11|c.*1122G>C|||||21795|,G|upstream_gene_variant|MODIFIER|CA15P1|ENSG00000241527|transcript|ENST00000481698|unitary_pseudogene||n.-1G>C|||||4403|,G|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|11/11|n.879G>C||||||,G|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000467659|retained_intron|4/4|n.1329G>C|||||| 22 19026500 . CAG C . . ANN=|frameshift_variant|HIGH|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|10/10|c.1529_1530delCT|p.Ser510fs|1778/4480|1529/1653|510/550||,|frameshift_variant|HIGH|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|9/9|c.1406_1407delCT|p.Ser469fs|1655/4361|1406/1530|469/509||,|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|10/10|c.1529_1530delCT||||||,|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|8/10|c.1529_1530delCT||||||,|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|9/10|c.1529_1530delCT||||||,|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|7/9|c.1406_1407delCT||||||,|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|9/9|c.1406_1407delCT||||||,|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|8/9|c.1406_1407delCT||||||,|3_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|11/11|c.*1100_*1101delCT|||||21773|,|upstream_gene_variant|MODIFIER|CA15P1|ENSG00000241527|transcript|ENST00000481698|unitary_pseudogene||n.-1_-1delCT|||||4424|,|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|11/11|n.857_858delCT||||||,|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000467659|retained_intron|4/4|n.1307_1308delCT||||||;LOF=(DGCR2|ENSG00000070413|7|0.29) 22 19026531 . C T . . ANN=T|synonymous_variant|LOW|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|10/10|c.1500G>A|p.Ala500Ala|1748/4480|1500/1653|500/550||,T|synonymous_variant|LOW|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|9/9|c.1377G>A|p.Ala459Ala|1625/4361|1377/1530|459/509||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|10/10|c.1500G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|8/10|c.1500G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|9/10|c.1500G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|7/9|c.1377G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|9/9|c.1377G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|8/9|c.1377G>A||||||,T|3_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|11/11|c.*1071G>A|||||21744|,T|upstream_gene_variant|MODIFIER|CA15P1|ENSG00000241527|transcript|ENST00000481698|unitary_pseudogene||n.-1G>A|||||4454|,T|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|11/11|n.828G>A||||||,T|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000467659|retained_intron|4/4|n.1278G>A|||||| 22 19026556 . C T . . ANN=T|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|10/10|c.1475G>A|p.Arg492His|1723/4480|1475/1653|492/550||,T|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|9/9|c.1352G>A|p.Arg451His|1600/4361|1352/1530|451/509||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|10/10|c.1475G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|8/10|c.1475G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|9/10|c.1475G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|7/9|c.1352G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|9/9|c.1352G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|8/9|c.1352G>A||||||,T|3_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|11/11|c.*1046G>A|||||21719|,T|upstream_gene_variant|MODIFIER|CA15P1|ENSG00000241527|transcript|ENST00000481698|unitary_pseudogene||n.-1G>A|||||4479|,T|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|11/11|n.803G>A||||||,T|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000467659|retained_intron|4/4|n.1253G>A|||||| 22 19026559 . C G . . ANN=G|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|10/10|c.1472G>C|p.Arg491Pro|1720/4480|1472/1653|491/550||,G|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|9/9|c.1349G>C|p.Arg450Pro|1597/4361|1349/1530|450/509||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|10/10|c.1472G>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|8/10|c.1472G>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|9/10|c.1472G>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|7/9|c.1349G>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|9/9|c.1349G>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|8/9|c.1349G>C||||||,G|3_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|11/11|c.*1043G>C|||||21716|,G|upstream_gene_variant|MODIFIER|CA15P1|ENSG00000241527|transcript|ENST00000481698|unitary_pseudogene||n.-1G>C|||||4482|,G|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|11/11|n.800G>C||||||,G|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000467659|retained_intron|4/4|n.1250G>C|||||| 22 19026613 . A G . . ANN=G|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|10/10|c.1418T>C|p.Val473Ala|1666/4480|1418/1653|473/550||,G|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|9/9|c.1295T>C|p.Val432Ala|1543/4361|1295/1530|432/509||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|10/10|c.1418T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|8/10|c.1418T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|9/10|c.1418T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|7/9|c.1295T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|9/9|c.1295T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|8/9|c.1295T>C||||||,G|3_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|11/11|c.*989T>C|||||21662|,G|upstream_gene_variant|MODIFIER|CA15P1|ENSG00000241527|transcript|ENST00000481698|unitary_pseudogene||n.-1T>C|||||4536|,G|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|11/11|n.746T>C||||||,G|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000467659|retained_intron|4/4|n.1196T>C|||||| 22 19026664 . G T . . ANN=T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|10/10|c.1397-30C>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|8/10|c.1397-30C>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|9/10|c.1397-30C>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|7/9|c.1274-30C>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|9/9|c.1274-30C>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|8/9|c.1274-30C>A||||||,T|upstream_gene_variant|MODIFIER|CA15P1|ENSG00000241527|transcript|ENST00000481698|unitary_pseudogene||n.-1C>A|||||4587|,T|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|9/9|c.1397-30C>A||||||,T|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|8/8|c.1274-30C>A||||||,T|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|10/10|n.725-30C>A||||||,T|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|10/10|c.*968-30C>A||||||,T|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000467659|retained_intron|3/3|n.1175-30C>A|||||| 22 19028521 . C T . . ANN=T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|10/10|c.1396+50G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|8/10|c.1396+50G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|9/10|c.1396+50G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|7/9|c.1273+50G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|9/9|c.1273+50G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|8/9|c.1273+50G>A||||||,T|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000206739|transcript|ENST00000384012|misc_RNA||n.-1C>T|||||4248|,T|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|9/9|c.1396+50G>A||||||,T|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|8/8|c.1273+50G>A||||||,T|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|10/10|n.724+50G>A||||||,T|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|10/10|c.*967+50G>A||||||,T|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000467659|retained_intron|3/3|n.1174+50G>A|||||| 22 19028554 . C G . . ANN=G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|10/10|c.1396+17G>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|8/10|c.1396+17G>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|9/10|c.1396+17G>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|7/9|c.1273+17G>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|9/9|c.1273+17G>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|8/9|c.1273+17G>C||||||,G|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000206739|transcript|ENST00000384012|misc_RNA||n.-1C>G|||||4215|,G|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|9/9|c.1396+17G>C||||||,G|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|8/8|c.1273+17G>C||||||,G|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|10/10|n.724+17G>C||||||,G|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|10/10|c.*967+17G>C||||||,G|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000467659|retained_intron|3/3|n.1174+17G>C|||||| 22 19028567 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|9/9|c.1396+4C>T||||||,A|splice_region_variant&intron_variant|LOW|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|8/8|c.1273+4C>T||||||,A|splice_region_variant&intron_variant|LOW|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|10/10|n.724+4C>T||||||,A|splice_region_variant&intron_variant|LOW|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|10/10|c.*967+4C>T||||||,A|splice_region_variant&intron_variant|LOW|DGCR2|ENSG00000070413|transcript|ENST00000467659|retained_intron|3/3|n.1174+4C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|10/10|c.1396+4C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|8/10|c.1396+4C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|9/10|c.1396+4C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|7/9|c.1273+4C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|9/9|c.1273+4C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|8/9|c.1273+4C>T||||||,A|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000206739|transcript|ENST00000384012|misc_RNA||n.-1G>A|||||4202| 22 19028643 . C T . . ANN=T|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|9/10|c.1324G>A|p.Gly442Ser|1572/4480|1324/1653|442/550||,T|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|8/9|c.1201G>A|p.Gly401Ser|1449/4361|1201/1530|401/509||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|10/10|c.1324G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|8/10|c.1324G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|9/10|c.1324G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|7/9|c.1201G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|9/9|c.1201G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|8/9|c.1201G>A||||||,T|3_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|10/11|c.*895G>A|||||19632|,T|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000206739|transcript|ENST00000384012|misc_RNA||n.-1C>T|||||4126|,T|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|10/11|n.652G>A||||||,T|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000467659|retained_intron|3/4|n.1102G>A|||||| 22 19028650 . C T . . ANN=T|synonymous_variant|LOW|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|9/10|c.1317G>A|p.Pro439Pro|1565/4480|1317/1653|439/550||,T|synonymous_variant|LOW|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|8/9|c.1194G>A|p.Pro398Pro|1442/4361|1194/1530|398/509||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|10/10|c.1317G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|8/10|c.1317G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|9/10|c.1317G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|7/9|c.1194G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|9/9|c.1194G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|8/9|c.1194G>A||||||,T|3_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|10/11|c.*888G>A|||||19625|,T|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000206739|transcript|ENST00000384012|misc_RNA||n.-1C>T|||||4119|,T|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|10/11|n.645G>A||||||,T|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000467659|retained_intron|3/4|n.1095G>A|||||| 22 19028665 . C T . . ANN=T|synonymous_variant|LOW|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|9/10|c.1302G>A|p.Thr434Thr|1550/4480|1302/1653|434/550||,T|synonymous_variant|LOW|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|8/9|c.1179G>A|p.Thr393Thr|1427/4361|1179/1530|393/509||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|10/10|c.1302G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|8/10|c.1302G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|9/10|c.1302G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|7/9|c.1179G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|9/9|c.1179G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|8/9|c.1179G>A||||||,T|3_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|10/11|c.*873G>A|||||19610|,T|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000206739|transcript|ENST00000384012|misc_RNA||n.-1C>T|||||4104|,T|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|10/11|n.630G>A||||||,T|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000467659|retained_intron|3/4|n.1080G>A|||||| 22 19028694 . G C . . ANN=C|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|9/10|c.1273C>G|p.His425Asp|1521/4480|1273/1653|425/550||,C|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|8/9|c.1150C>G|p.His384Asp|1398/4361|1150/1530|384/509||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|10/10|c.1273C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|8/10|c.1273C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|9/10|c.1273C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|7/9|c.1150C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|9/9|c.1150C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|8/9|c.1150C>G||||||,C|3_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|10/11|c.*844C>G|||||19581|,C|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000206739|transcript|ENST00000384012|misc_RNA||n.-1G>C|||||4075|,C|downstream_gene_variant|MODIFIER|DGCR11|ENSG00000273311|transcript|ENST00000609958|sense_intronic||n.*2214C>G|||||4981|,C|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|10/11|n.601C>G||||||,C|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000467659|retained_intron|3/4|n.1051C>G|||||| 22 19028782 . C T . . ANN=T|synonymous_variant|LOW|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|9/10|c.1185G>A|p.Arg395Arg|1433/4480|1185/1653|395/550||,T|synonymous_variant|LOW|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|8/9|c.1062G>A|p.Arg354Arg|1310/4361|1062/1530|354/509||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|10/10|c.1185G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|8/10|c.1185G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|9/10|c.1185G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|7/9|c.1062G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|9/9|c.1062G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|8/9|c.1062G>A||||||,T|3_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|10/11|c.*756G>A|||||19493|,T|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000206739|transcript|ENST00000384012|misc_RNA||n.-1C>T|||||3987|,T|downstream_gene_variant|MODIFIER|DGCR11|ENSG00000273311|transcript|ENST00000609958|sense_intronic||n.*2214G>A|||||4893|,T|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|10/11|n.513G>A||||||,T|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000467659|retained_intron|3/4|n.963G>A|||||| 22 19028816 . T C . . ANN=C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|10/10|c.1160-9A>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|8/10|c.1160-9A>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|9/10|c.1160-9A>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|7/9|c.1037-9A>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|9/9|c.1037-9A>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|8/9|c.1037-9A>G||||||,C|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000206739|transcript|ENST00000384012|misc_RNA||n.-1T>C|||||3953|,C|downstream_gene_variant|MODIFIER|DGCR11|ENSG00000273311|transcript|ENST00000609958|sense_intronic||n.*2214A>G|||||4859|,C|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|8/9|c.1160-9A>G||||||,C|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|7/8|c.1037-9A>G||||||,C|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|9/10|n.488-9A>G||||||,C|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|9/10|c.*731-9A>G||||||,C|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000467659|retained_intron|3/4|n.929A>G|||||| 22 19028818 . A G . . ANN=G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|10/10|c.1160-11T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|8/10|c.1160-11T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|9/10|c.1160-11T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|7/9|c.1037-11T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|9/9|c.1037-11T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|8/9|c.1037-11T>C||||||,G|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000206739|transcript|ENST00000384012|misc_RNA||n.-1A>G|||||3951|,G|downstream_gene_variant|MODIFIER|DGCR11|ENSG00000273311|transcript|ENST00000609958|sense_intronic||n.*2214T>C|||||4857|,G|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|8/9|c.1160-11T>C||||||,G|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|7/8|c.1037-11T>C||||||,G|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|9/10|n.488-11T>C||||||,G|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|9/10|c.*731-11T>C||||||,G|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000467659|retained_intron|3/4|n.927T>C|||||| 22 19029286 . G C . . ANN=C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|10/10|c.1159+34C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|8/10|c.1159+34C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|9/10|c.1159+34C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|7/9|c.1036+34C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|9/9|c.1036+34C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|8/9|c.1036+34C>G||||||,C|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000206739|transcript|ENST00000384012|misc_RNA||n.-1G>C|||||3483|,C|downstream_gene_variant|MODIFIER|DGCR11|ENSG00000273311|transcript|ENST00000609958|sense_intronic||n.*2214C>G|||||4389|,C|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|8/9|c.1159+34C>G||||||,C|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|7/8|c.1036+34C>G||||||,C|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|9/10|n.487+34C>G||||||,C|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|9/10|c.*730+34C>G||||||,C|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000467659|retained_intron|3/4|n.459C>G|||||| 22 19029311 . G A . . ANN=A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|10/10|c.1159+9C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|8/10|c.1159+9C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|9/10|c.1159+9C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|7/9|c.1036+9C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|9/9|c.1036+9C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|8/9|c.1036+9C>T||||||,A|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000206739|transcript|ENST00000384012|misc_RNA||n.-1G>A|||||3458|,A|downstream_gene_variant|MODIFIER|DGCR11|ENSG00000273311|transcript|ENST00000609958|sense_intronic||n.*2214C>T|||||4364|,A|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|8/9|c.1159+9C>T||||||,A|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|7/8|c.1036+9C>T||||||,A|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|9/10|n.487+9C>T||||||,A|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|9/10|c.*730+9C>T||||||,A|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000467659|retained_intron|3/4|n.434C>T|||||| 22 19029353 . G A . . ANN=A|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|8/10|c.1126C>T|p.Arg376Trp|1374/4480|1126/1653|376/550||,A|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|7/9|c.1003C>T|p.Arg335Trp|1251/4361|1003/1530|335/509||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|10/10|c.1126C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|8/10|c.1126C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|9/10|c.1126C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|7/9|c.1003C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|9/9|c.1003C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|8/9|c.1003C>T||||||,A|3_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|9/11|c.*697C>T|||||18922|,A|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000206739|transcript|ENST00000384012|misc_RNA||n.-1G>A|||||3416|,A|downstream_gene_variant|MODIFIER|DGCR11|ENSG00000273311|transcript|ENST00000609958|sense_intronic||n.*2214C>T|||||4322|,A|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|9/11|n.454C>T||||||,A|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000467659|retained_intron|3/4|n.392C>T|||||| 22 19029359 . G A . . ANN=A|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|8/10|c.1120C>T|p.Arg374Trp|1368/4480|1120/1653|374/550||,A|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|7/9|c.997C>T|p.Arg333Trp|1245/4361|997/1530|333/509||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|10/10|c.1120C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|8/10|c.1120C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|9/10|c.1120C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|7/9|c.997C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|9/9|c.997C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|8/9|c.997C>T||||||,A|3_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|9/11|c.*691C>T|||||18916|,A|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000206739|transcript|ENST00000384012|misc_RNA||n.-1G>A|||||3410|,A|downstream_gene_variant|MODIFIER|DGCR11|ENSG00000273311|transcript|ENST00000609958|sense_intronic||n.*2214C>T|||||4316|,A|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|9/11|n.448C>T||||||,A|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000467659|retained_intron|3/4|n.386C>T|||||| 22 19029365 . G A . . ANN=A|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|8/10|c.1114C>T|p.Arg372Cys|1362/4480|1114/1653|372/550||,A|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|7/9|c.991C>T|p.Arg331Cys|1239/4361|991/1530|331/509||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|10/10|c.1114C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|8/10|c.1114C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|9/10|c.1114C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|7/9|c.991C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|9/9|c.991C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|8/9|c.991C>T||||||,A|3_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|9/11|c.*685C>T|||||18910|,A|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000206739|transcript|ENST00000384012|misc_RNA||n.-1G>A|||||3404|,A|downstream_gene_variant|MODIFIER|DGCR11|ENSG00000273311|transcript|ENST00000609958|sense_intronic||n.*2214C>T|||||4310|,A|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|9/11|n.442C>T||||||,A|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000467659|retained_intron|3/4|n.380C>T|||||| 22 19029498 . G C . . ANN=C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|7/10|c.1007-26C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|3/10|c.1007-26C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|1/10|c.1007-26C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|4/10|c.1007-26C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|5/10|c.1007-26C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|8/10|c.1007-26C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|2/10|c.1007-26C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|6/10|c.1007-26C>G||||||,C|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000206739|transcript|ENST00000384012|misc_RNA||n.-1G>C|||||3271|,C|downstream_gene_variant|MODIFIER|DGCR11|ENSG00000273311|transcript|ENST00000609958|sense_intronic||n.*2214C>G|||||4177|,C|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|7/9|c.1007-26C>G||||||,C|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|6/8|c.884-26C>G||||||,C|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|8/10|n.335-26C>G||||||,C|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|8/10|c.*578-26C>G||||||,C|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000467659|retained_intron|2/3|n.273-26C>G|||||| 22 19036154 . G C . . ANN=C|missense_variant&splice_region_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|7/10|c.805C>G|p.Gln269Glu|1053/4480|805/1653|269/550||,C|missense_variant&splice_region_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|6/9|c.682C>G|p.Gln228Glu|930/4361|682/1530|228/509||,C|splice_region_variant&non_coding_exon_variant|LOW|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|8/11|n.133C>G||||||,C|splice_region_variant|LOW|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|8/11|c.*376C>G||||||,C|splice_region_variant&non_coding_exon_variant|LOW|DGCR2|ENSG00000070413|transcript|ENST00000467659|retained_intron|2/4|n.71C>G||||||,C|splice_region_variant&non_coding_exon_variant|LOW|DGCR2|ENSG00000070413|transcript|ENST00000608548|processed_transcript|3/3|n.256C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|7/10|c.805C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|3/10|c.805C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|1/10|c.805C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|4/10|c.805C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|5/10|c.805C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|8/10|c.805C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|2/10|c.805C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|6/10|c.805C>G||||||,C|3_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|8/11|c.*376C>G|||||12121|,C|upstream_gene_variant|MODIFIER|DGCR11|ENSG00000273311|transcript|ENST00000609958|sense_intronic||n.-1C>G|||||266|,C|downstream_gene_variant|MODIFIER|Y_RNA|ENSG00000206739|transcript|ENST00000384012|misc_RNA||n.*112G>C|||||3274| 22 19036161 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|6/9|c.803-5T>C||||||,G|splice_region_variant&intron_variant|LOW|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|5/8|c.680-5T>C||||||,G|splice_region_variant&intron_variant|LOW|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|7/10|n.131-5T>C||||||,G|splice_region_variant&intron_variant|LOW|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|7/10|c.*374-5T>C||||||,G|splice_region_variant&intron_variant|LOW|DGCR2|ENSG00000070413|transcript|ENST00000467659|retained_intron|1/3|n.69-5T>C||||||,G|splice_region_variant&intron_variant|LOW|DGCR2|ENSG00000070413|transcript|ENST00000608548|processed_transcript|2/2|n.254-5T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|7/10|c.803-5T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|3/10|c.803-5T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|1/10|c.803-5T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|4/10|c.803-5T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|5/10|c.803-5T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|8/10|c.803-5T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|2/10|c.803-5T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|6/10|c.803-5T>C||||||,G|upstream_gene_variant|MODIFIER|DGCR11|ENSG00000273311|transcript|ENST00000609958|sense_intronic||n.-1T>C|||||273|,G|downstream_gene_variant|MODIFIER|Y_RNA|ENSG00000206739|transcript|ENST00000384012|misc_RNA||n.*112A>G|||||3281| 22 19036172 . A G . . ANN=G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|7/10|c.803-16T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|3/10|c.803-16T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|1/10|c.803-16T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|4/10|c.803-16T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|5/10|c.803-16T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|8/10|c.803-16T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|2/10|c.803-16T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|6/10|c.803-16T>C||||||,G|upstream_gene_variant|MODIFIER|DGCR11|ENSG00000273311|transcript|ENST00000609958|sense_intronic||n.-1T>C|||||284|,G|downstream_gene_variant|MODIFIER|Y_RNA|ENSG00000206739|transcript|ENST00000384012|misc_RNA||n.*112A>G|||||3292|,G|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|6/9|c.803-16T>C||||||,G|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|5/8|c.680-16T>C||||||,G|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|7/10|n.131-16T>C||||||,G|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|7/10|c.*374-16T>C||||||,G|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000467659|retained_intron|1/3|n.69-16T>C||||||,G|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000608548|processed_transcript|2/2|n.254-16T>C|||||| 22 19044623 . A C . . ANN=C|synonymous_variant|LOW|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|6/10|c.678T>G|p.Ser226Ser|926/4480|678/1653|226/550||,C|synonymous_variant|LOW|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|5/9|c.555T>G|p.Ser185Ser|803/4361|555/1530|185/509||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|7/10|c.678T>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|3/10|c.678T>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|1/10|c.678T>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|4/10|c.678T>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|5/10|c.678T>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|8/10|c.678T>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|2/10|c.678T>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|6/10|c.678T>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000263196|protein_coding|4/10|c.678T>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000263196|protein_coding|5/10|c.678T>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000263196|protein_coding|6/10|c.678T>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000263196|protein_coding|4/10|c.678T>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000263196|protein_coding|5/10|c.678T>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000263196|protein_coding|6/10|c.678T>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000537045|protein_coding|3/9|c.555T>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000537045|protein_coding|4/9|c.555T>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000537045|protein_coding|5/9|c.555T>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000537045|protein_coding|3/9|c.555T>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000537045|protein_coding|4/9|c.555T>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000537045|protein_coding|5/9|c.555T>G||||||,C|3_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|7/11|c.*249T>G|||||3652|,C|upstream_gene_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000467659|retained_intron||n.-1T>G|||||57|,C|downstream_gene_variant|MODIFIER|AC004461.4|ENSG00000237347|transcript|ENST00000412461|processed_pseudogene||n.*403A>C|||||598|,C|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|7/11|n.6T>G||||||,C|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000608548|processed_transcript|2/3|n.129T>G||||||,C|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000473832|processed_transcript|4/4|n.490T>G|||||| 22 19044632 . C T . . ANN=T|synonymous_variant|LOW|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|6/10|c.669G>A|p.Ser223Ser|917/4480|669/1653|223/550||,T|synonymous_variant|LOW|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|5/9|c.546G>A|p.Ser182Ser|794/4361|546/1530|182/509||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|7/10|c.669G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|3/10|c.669G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|1/10|c.669G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|4/10|c.669G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|5/10|c.669G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|8/10|c.669G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|2/10|c.669G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|6/10|c.669G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000263196|protein_coding|4/10|c.669G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000263196|protein_coding|5/10|c.669G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000263196|protein_coding|6/10|c.669G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000263196|protein_coding|4/10|c.669G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000263196|protein_coding|5/10|c.669G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000263196|protein_coding|6/10|c.669G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000537045|protein_coding|3/9|c.546G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000537045|protein_coding|4/9|c.546G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000537045|protein_coding|5/9|c.546G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000537045|protein_coding|3/9|c.546G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000537045|protein_coding|4/9|c.546G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000537045|protein_coding|5/9|c.546G>A||||||,T|5_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|7/11|n.-4G>A|||||4|,T|3_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|7/11|c.*240G>A|||||3643|,T|upstream_gene_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000467659|retained_intron||n.-1G>A|||||66|,T|downstream_gene_variant|MODIFIER|AC004461.4|ENSG00000237347|transcript|ENST00000412461|processed_pseudogene||n.*403C>T|||||607|,T|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|7/11|n.-4G>A||||||,T|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000608548|processed_transcript|2/3|n.120G>A||||||,T|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000473832|processed_transcript|4/4|n.481G>A|||||| 22 19044688 . C A . . ANN=A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|7/10|c.626-13G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|3/10|c.626-13G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|1/10|c.626-13G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|4/10|c.626-13G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|5/10|c.626-13G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|8/10|c.626-13G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|2/10|c.626-13G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|6/10|c.626-13G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000263196|protein_coding|4/10|c.626-13G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000263196|protein_coding|5/10|c.626-13G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000263196|protein_coding|6/10|c.626-13G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000263196|protein_coding|4/10|c.626-13G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000263196|protein_coding|5/10|c.626-13G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000263196|protein_coding|6/10|c.626-13G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000537045|protein_coding|3/9|c.503-13G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000537045|protein_coding|4/9|c.503-13G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000537045|protein_coding|5/9|c.503-13G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000537045|protein_coding|3/9|c.503-13G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000537045|protein_coding|4/9|c.503-13G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000537045|protein_coding|5/9|c.503-13G>T||||||,A|upstream_gene_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000467659|retained_intron||n.-1G>T|||||122|,A|downstream_gene_variant|MODIFIER|AC004461.4|ENSG00000237347|transcript|ENST00000412461|processed_pseudogene||n.*403C>A|||||663|,A|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|5/9|c.626-13G>T||||||,A|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|4/8|c.503-13G>T||||||,A|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|6/10|n.-47-13G>T||||||,A|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|6/10|c.*197-13G>T||||||,A|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000608548|processed_transcript|1/2|n.77-13G>T||||||,A|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000473832|processed_transcript|3/3|n.438-13G>T|||||| 22 19050698 . A C . . ANN=C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|7/10|c.625+17T>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|3/10|c.625+17T>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|1/10|c.625+17T>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|4/10|c.625+17T>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|5/10|c.625+17T>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|8/10|c.625+17T>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|2/10|c.625+17T>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|6/10|c.625+17T>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000263196|protein_coding|4/10|c.625+17T>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000263196|protein_coding|5/10|c.625+17T>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000263196|protein_coding|6/10|c.625+17T>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000263196|protein_coding|4/10|c.625+17T>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000263196|protein_coding|5/10|c.625+17T>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000263196|protein_coding|6/10|c.625+17T>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000537045|protein_coding|3/9|c.502+17T>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000537045|protein_coding|4/9|c.502+17T>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000537045|protein_coding|5/9|c.502+17T>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000537045|protein_coding|3/9|c.502+17T>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000537045|protein_coding|4/9|c.502+17T>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000537045|protein_coding|5/9|c.502+17T>G||||||,C|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|5/9|c.625+17T>G||||||,C|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|4/8|c.502+17T>G||||||,C|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|5/10|n.-438+17T>G||||||,C|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|5/10|c.616+17T>G||||||,C|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000608548|processed_transcript|1/2|n.76+17T>G||||||,C|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000473832|processed_transcript|3/3|n.437+17T>G|||||| 22 19050704 . G C . . ANN=C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|7/10|c.625+11C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|3/10|c.625+11C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|1/10|c.625+11C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|4/10|c.625+11C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|5/10|c.625+11C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|8/10|c.625+11C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|2/10|c.625+11C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|6/10|c.625+11C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000263196|protein_coding|4/10|c.625+11C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000263196|protein_coding|5/10|c.625+11C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000263196|protein_coding|6/10|c.625+11C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000263196|protein_coding|4/10|c.625+11C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000263196|protein_coding|5/10|c.625+11C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000263196|protein_coding|6/10|c.625+11C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000537045|protein_coding|3/9|c.502+11C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000537045|protein_coding|4/9|c.502+11C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000537045|protein_coding|5/9|c.502+11C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000537045|protein_coding|3/9|c.502+11C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000537045|protein_coding|4/9|c.502+11C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000537045|protein_coding|5/9|c.502+11C>G||||||,C|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|5/9|c.625+11C>G||||||,C|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|4/8|c.502+11C>G||||||,C|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|5/10|n.-438+11C>G||||||,C|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|5/10|c.616+11C>G||||||,C|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000608548|processed_transcript|1/2|n.76+11C>G||||||,C|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000473832|processed_transcript|3/3|n.437+11C>G|||||| 22 19050750 . C T . . ANN=T|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|5/10|c.590G>A|p.Arg197His|838/4480|590/1653|197/550||,T|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|4/9|c.467G>A|p.Arg156His|715/4361|467/1530|156/509||,T|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|5/11|c.581G>A|p.Arg194His|782/4812|581/810|194/269||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|7/10|c.590G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|3/10|c.590G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|1/10|c.590G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|4/10|c.590G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|5/10|c.590G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|8/10|c.590G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|2/10|c.590G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|6/10|c.590G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000263196|protein_coding|4/10|c.590G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000263196|protein_coding|5/10|c.590G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000263196|protein_coding|6/10|c.590G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000263196|protein_coding|4/10|c.590G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000263196|protein_coding|5/10|c.590G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000263196|protein_coding|6/10|c.590G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000537045|protein_coding|3/9|c.467G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000537045|protein_coding|4/9|c.467G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000537045|protein_coding|5/9|c.467G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000537045|protein_coding|3/9|c.467G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000537045|protein_coding|4/9|c.467G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000537045|protein_coding|5/9|c.467G>A||||||,T|5_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|5/11|n.-473G>A|||||6122|,T|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|5/11|n.-473G>A||||||,T|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000608548|processed_transcript|1/3|n.41G>A||||||,T|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000473832|processed_transcript|3/4|n.402G>A|||||| 22 19050799 . GCACAGAGA G . . ANN=|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|7/10|c.549-16_549-9delTCTCTGTG||||||,|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|3/10|c.549-16_549-9delTCTCTGTG||||||,|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|1/10|c.549-16_549-9delTCTCTGTG||||||,|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|4/10|c.549-16_549-9delTCTCTGTG||||||,|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|5/10|c.549-16_549-9delTCTCTGTG||||||,|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|8/10|c.549-16_549-9delTCTCTGTG||||||,|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|2/10|c.549-16_549-9delTCTCTGTG||||||,|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|6/10|c.549-16_549-9delTCTCTGTG||||||,|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000263196|protein_coding|4/10|c.549-16_549-9delTCTCTGTG||||||,|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000263196|protein_coding|5/10|c.549-16_549-9delTCTCTGTG||||||,|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000263196|protein_coding|6/10|c.549-16_549-9delTCTCTGTG||||||,|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000263196|protein_coding|4/10|c.549-16_549-9delTCTCTGTG||||||,|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000263196|protein_coding|5/10|c.549-16_549-9delTCTCTGTG||||||,|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000263196|protein_coding|6/10|c.549-16_549-9delTCTCTGTG||||||,|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000537045|protein_coding|3/9|c.426-16_426-9delTCTCTGTG||||||,|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000537045|protein_coding|4/9|c.426-16_426-9delTCTCTGTG||||||,|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000537045|protein_coding|5/9|c.426-16_426-9delTCTCTGTG||||||,|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000537045|protein_coding|3/9|c.426-16_426-9delTCTCTGTG||||||,|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000537045|protein_coding|4/9|c.426-16_426-9delTCTCTGTG||||||,|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000537045|protein_coding|5/9|c.426-16_426-9delTCTCTGTG||||||,|upstream_gene_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000608548|processed_transcript||n.-1_-1delTCTCTGTG|||||10|,|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|4/9|c.549-16_549-9delTCTCTGTG||||||,|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|3/8|c.426-16_426-9delTCTCTGTG||||||,|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|4/10|n.-514-16_-514-9delTCTCTGTG||||||,|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|4/10|c.540-16_540-9delTCTCTGTG||||||,|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000473832|processed_transcript|2/3|n.361-16_361-9delTCTCTGTG|||||| 22 19050800 . CACAGAG C . . ANN=|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|7/10|c.549-15_549-10delCTCTGT||||||,|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|3/10|c.549-15_549-10delCTCTGT||||||,|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|1/10|c.549-15_549-10delCTCTGT||||||,|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|4/10|c.549-15_549-10delCTCTGT||||||,|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|5/10|c.549-15_549-10delCTCTGT||||||,|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|8/10|c.549-15_549-10delCTCTGT||||||,|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|2/10|c.549-15_549-10delCTCTGT||||||,|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|6/10|c.549-15_549-10delCTCTGT||||||,|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000263196|protein_coding|4/10|c.549-15_549-10delCTCTGT||||||,|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000263196|protein_coding|5/10|c.549-15_549-10delCTCTGT||||||,|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000263196|protein_coding|6/10|c.549-15_549-10delCTCTGT||||||,|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000263196|protein_coding|4/10|c.549-15_549-10delCTCTGT||||||,|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000263196|protein_coding|5/10|c.549-15_549-10delCTCTGT||||||,|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000263196|protein_coding|6/10|c.549-15_549-10delCTCTGT||||||,|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000537045|protein_coding|3/9|c.426-15_426-10delCTCTGT||||||,|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000537045|protein_coding|4/9|c.426-15_426-10delCTCTGT||||||,|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000537045|protein_coding|5/9|c.426-15_426-10delCTCTGT||||||,|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000537045|protein_coding|3/9|c.426-15_426-10delCTCTGT||||||,|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000537045|protein_coding|4/9|c.426-15_426-10delCTCTGT||||||,|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000537045|protein_coding|5/9|c.426-15_426-10delCTCTGT||||||,|upstream_gene_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000608548|processed_transcript||n.-1_-1delCTCTGT|||||11|,|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|4/9|c.549-15_549-10delCTCTGT||||||,|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|3/8|c.426-15_426-10delCTCTGT||||||,|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|4/10|n.-514-15_-514-10delCTCTGT||||||,|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|4/10|c.540-15_540-10delCTCTGT||||||,|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000473832|processed_transcript|2/3|n.361-15_361-10delCTCTGT|||||| 22 19050827 . G A . . ANN=A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|7/10|c.549-36C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|3/10|c.549-36C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|1/10|c.549-36C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|4/10|c.549-36C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|5/10|c.549-36C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|8/10|c.549-36C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|2/10|c.549-36C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|6/10|c.549-36C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000263196|protein_coding|4/10|c.549-36C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000263196|protein_coding|5/10|c.549-36C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000263196|protein_coding|6/10|c.549-36C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000263196|protein_coding|4/10|c.549-36C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000263196|protein_coding|5/10|c.549-36C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000263196|protein_coding|6/10|c.549-36C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000537045|protein_coding|3/9|c.426-36C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000537045|protein_coding|4/9|c.426-36C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000537045|protein_coding|5/9|c.426-36C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000537045|protein_coding|3/9|c.426-36C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000537045|protein_coding|4/9|c.426-36C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000537045|protein_coding|5/9|c.426-36C>T||||||,A|upstream_gene_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000608548|processed_transcript||n.-1C>T|||||37|,A|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|4/9|c.549-36C>T||||||,A|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|3/8|c.426-36C>T||||||,A|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|4/10|n.-514-36C>T||||||,A|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|4/10|c.540-36C>T||||||,A|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000473832|processed_transcript|2/3|n.361-36C>T|||||| 22 19050831 . G A . . ANN=A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|7/10|c.549-40C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|3/10|c.549-40C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|1/10|c.549-40C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|4/10|c.549-40C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|5/10|c.549-40C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|8/10|c.549-40C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|2/10|c.549-40C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|6/10|c.549-40C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000263196|protein_coding|4/10|c.549-40C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000263196|protein_coding|5/10|c.549-40C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000263196|protein_coding|6/10|c.549-40C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000263196|protein_coding|4/10|c.549-40C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000263196|protein_coding|5/10|c.549-40C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000263196|protein_coding|6/10|c.549-40C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000537045|protein_coding|3/9|c.426-40C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000537045|protein_coding|4/9|c.426-40C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000537045|protein_coding|5/9|c.426-40C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000537045|protein_coding|3/9|c.426-40C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000537045|protein_coding|4/9|c.426-40C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000537045|protein_coding|5/9|c.426-40C>T||||||,A|upstream_gene_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000608548|processed_transcript||n.-1C>T|||||41|,A|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|4/9|c.549-40C>T||||||,A|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|3/8|c.426-40C>T||||||,A|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|4/10|n.-514-40C>T||||||,A|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|4/10|c.540-40C>T||||||,A|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000473832|processed_transcript|2/3|n.361-40C>T|||||| 22 19052348 . A G . . ANN=G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|7/10|c.548+13T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|3/10|c.548+13T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|1/10|c.548+13T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|4/10|c.548+13T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|5/10|c.548+13T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|8/10|c.548+13T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|2/10|c.548+13T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|6/10|c.548+13T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000263196|protein_coding|4/10|c.548+13T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000263196|protein_coding|5/10|c.548+13T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000263196|protein_coding|6/10|c.548+13T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000263196|protein_coding|4/10|c.548+13T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000263196|protein_coding|5/10|c.548+13T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000263196|protein_coding|6/10|c.548+13T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000537045|protein_coding|3/9|c.425+13T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000537045|protein_coding|4/9|c.425+13T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000537045|protein_coding|5/9|c.425+13T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000537045|protein_coding|3/9|c.425+13T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000537045|protein_coding|4/9|c.425+13T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000537045|protein_coding|5/9|c.425+13T>C||||||,G|upstream_gene_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000608548|processed_transcript||n.-1T>C|||||1558|,G|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|4/9|c.548+13T>C||||||,G|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|3/8|c.425+13T>C||||||,G|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|4/10|n.-515+13T>C||||||,G|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|4/10|c.539+13T>C||||||,G|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000473832|processed_transcript|2/3|n.360+13T>C|||||| 22 19052424 . C A . . ANN=A|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|4/10|c.485G>T|p.Arg162Leu|733/4480|485/1653|162/550||,A|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|3/9|c.362G>T|p.Arg121Leu|610/4361|362/1530|121/509||,A|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|4/11|c.476G>T|p.Arg159Leu|677/4812|476/810|159/269||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|7/10|c.485G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|3/10|c.485G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|1/10|c.485G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|4/10|c.485G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|5/10|c.485G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|8/10|c.485G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|2/10|c.485G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|6/10|c.485G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000263196|protein_coding|4/10|c.485G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000263196|protein_coding|5/10|c.485G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000263196|protein_coding|6/10|c.485G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000263196|protein_coding|4/10|c.485G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000263196|protein_coding|5/10|c.485G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000263196|protein_coding|6/10|c.485G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000537045|protein_coding|3/9|c.362G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000537045|protein_coding|4/9|c.362G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000537045|protein_coding|5/9|c.362G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000537045|protein_coding|3/9|c.362G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000537045|protein_coding|4/9|c.362G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000537045|protein_coding|5/9|c.362G>T||||||,A|5_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|4/11|n.-578G>T|||||7796|,A|upstream_gene_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000608548|processed_transcript||n.-1G>T|||||1634|,A|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|4/11|n.-578G>T||||||,A|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000473832|processed_transcript|2/4|n.297G>T|||||| 22 19052486 . G A . . ANN=A|synonymous_variant|LOW|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|4/10|c.423C>T|p.Ala141Ala|671/4480|423/1653|141/550||,A|synonymous_variant|LOW|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|3/9|c.300C>T|p.Ala100Ala|548/4361|300/1530|100/509||,A|synonymous_variant|LOW|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|4/11|c.414C>T|p.Ala138Ala|615/4812|414/810|138/269||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|4/11|n.-640C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|7/10|c.423C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|3/10|c.423C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|1/10|c.423C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|4/10|c.423C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|5/10|c.423C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|8/10|c.423C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|2/10|c.423C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|6/10|c.423C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000263196|protein_coding|4/10|c.423C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000263196|protein_coding|5/10|c.423C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000263196|protein_coding|6/10|c.423C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000537045|protein_coding|3/9|c.300C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000537045|protein_coding|4/9|c.300C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000537045|protein_coding|5/9|c.300C>T||||||,A|5_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|4/11|n.-640C>T|||||7858|,A|upstream_gene_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000608548|processed_transcript||n.-1C>T|||||1696|,A|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|4/11|n.-640C>T||||||,A|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000473832|processed_transcript|2/4|n.235C>T|||||| 22 19052507 . G A . . ANN=A|synonymous_variant|LOW|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|4/10|c.402C>T|p.Ser134Ser|650/4480|402/1653|134/550||,A|synonymous_variant|LOW|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|3/9|c.279C>T|p.Ser93Ser|527/4361|279/1530|93/509||,A|synonymous_variant|LOW|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|4/11|c.393C>T|p.Ser131Ser|594/4812|393/810|131/269||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|7/10|c.402C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|3/10|c.402C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|1/10|c.402C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|4/10|c.402C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|5/10|c.402C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|8/10|c.402C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|2/10|c.402C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|6/10|c.402C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000263196|protein_coding|4/10|c.402C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000263196|protein_coding|5/10|c.402C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000263196|protein_coding|6/10|c.402C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000537045|protein_coding|3/9|c.279C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000537045|protein_coding|4/9|c.279C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000537045|protein_coding|5/9|c.279C>T||||||,A|5_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|4/11|n.-661C>T|||||7879|,A|upstream_gene_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000608548|processed_transcript||n.-1C>T|||||1717|,A|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|4/11|n.-661C>T||||||,A|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000473832|processed_transcript|2/4|n.214C>T|||||| 22 19052583 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|3/9|c.329-3T>C||||||,G|splice_region_variant&intron_variant|LOW|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|2/8|c.206-3T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|7/10|c.329-3T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|3/10|c.329-3T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|1/10|c.329-3T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|4/10|c.329-3T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|5/10|c.329-3T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|8/10|c.329-3T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|2/10|c.329-3T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|6/10|c.329-3T>C||||||,G|upstream_gene_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000608548|processed_transcript||n.-1T>C|||||1793|,G|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|3/10|n.-725-12T>C||||||,G|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|3/10|c.329-12T>C||||||,G|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000473832|processed_transcript|1/3|n.150-12T>C|||||| 22 19052591 . G C . . ANN=C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|7/10|c.329-11C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|3/10|c.329-11C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|1/10|c.329-11C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|4/10|c.329-11C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|5/10|c.329-11C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|8/10|c.329-11C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|2/10|c.329-11C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|6/10|c.329-11C>G||||||,C|upstream_gene_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000608548|processed_transcript||n.-1C>G|||||1801|,C|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|3/9|c.329-11C>G||||||,C|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|2/8|c.206-11C>G||||||,C|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|3/10|n.-725-20C>G||||||,C|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|3/10|c.329-20C>G||||||,C|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000473832|processed_transcript|1/3|n.150-20C>G|||||| 22 19052622 . G C . . ANN=C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|7/10|c.329-42C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|3/10|c.329-42C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|1/10|c.329-42C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|4/10|c.329-42C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|5/10|c.329-42C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|8/10|c.329-42C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|2/10|c.329-42C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|6/10|c.329-42C>G||||||,C|upstream_gene_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000608548|processed_transcript||n.-1C>G|||||1832|,C|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|3/9|c.329-42C>G||||||,C|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|2/8|c.206-42C>G||||||,C|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|3/10|n.-725-51C>G||||||,C|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|3/10|c.329-51C>G||||||,C|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000473832|processed_transcript|1/3|n.150-51C>G|||||| 22 19055595 . G A . . ANN=A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|7/10|c.328+18C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|3/10|c.328+18C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|1/10|c.328+18C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|4/10|c.328+18C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|5/10|c.328+18C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|8/10|c.328+18C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|2/10|c.328+18C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|6/10|c.328+18C>T||||||,A|upstream_gene_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000608548|processed_transcript||n.-1C>T|||||4805|,A|upstream_gene_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000473832|processed_transcript||n.-1C>T|||||2178|,A|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|3/9|c.328+18C>T||||||,A|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|2/8|c.205+18C>T||||||,A|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|3/10|n.-726+18C>T||||||,A|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|3/10|c.328+18C>T|||||| 22 19055622 . G A . . ANN=A|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|3/10|c.319C>T|p.Arg107Cys|567/4480|319/1653|107/550||,A|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|2/9|c.196C>T|p.Arg66Cys|444/4361|196/1530|66/509||,A|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|3/11|c.319C>T|p.Arg107Cys|520/4812|319/810|107/269||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|3/11|n.-735C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|7/10|c.319C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|3/10|c.319C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|1/10|c.319C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|4/10|c.319C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|5/10|c.319C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|8/10|c.319C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|2/10|c.319C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|6/10|c.319C>T||||||,A|5_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|3/11|n.-735C>T|||||10994|,A|upstream_gene_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000608548|processed_transcript||n.-1C>T|||||4832|,A|upstream_gene_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000473832|processed_transcript||n.-1C>T|||||2205|,A|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|3/11|n.-735C>T|||||| 22 19055647 . G A . . ANN=A|synonymous_variant|LOW|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|3/10|c.294C>T|p.His98His|542/4480|294/1653|98/550||,A|synonymous_variant|LOW|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|2/9|c.171C>T|p.His57His|419/4361|171/1530|57/509||,A|synonymous_variant|LOW|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|3/11|c.294C>T|p.His98His|495/4812|294/810|98/269||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|3/11|n.-760C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|7/10|c.294C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|3/10|c.294C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|1/10|c.294C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|4/10|c.294C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|5/10|c.294C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|8/10|c.294C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|2/10|c.294C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|6/10|c.294C>T||||||,A|5_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|3/11|n.-760C>T|||||11019|,A|upstream_gene_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000608548|processed_transcript||n.-1C>T|||||4857|,A|upstream_gene_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000473832|processed_transcript||n.-1C>T|||||2230|,A|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|3/11|n.-760C>T|||||| 22 19055656 . C T . . ANN=T|synonymous_variant|LOW|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|3/10|c.285G>A|p.Ser95Ser|533/4480|285/1653|95/550||,T|synonymous_variant|LOW|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|2/9|c.162G>A|p.Ser54Ser|410/4361|162/1530|54/509||,T|synonymous_variant|LOW|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|3/11|c.285G>A|p.Ser95Ser|486/4812|285/810|95/269||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|7/10|c.285G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|3/10|c.285G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|1/10|c.285G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|4/10|c.285G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|5/10|c.285G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|8/10|c.285G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|2/10|c.285G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|6/10|c.285G>A||||||,T|5_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|3/11|n.-769G>A|||||11028|,T|upstream_gene_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000608548|processed_transcript||n.-1G>A|||||4866|,T|upstream_gene_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000473832|processed_transcript||n.-1G>A|||||2239|,T|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|3/11|n.-769G>A|||||| 22 19055679 . G A . . ANN=A|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|3/10|c.262C>T|p.Arg88Trp|510/4480|262/1653|88/550||,A|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|2/9|c.139C>T|p.Arg47Trp|387/4361|139/1530|47/509||,A|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|3/11|c.262C>T|p.Arg88Trp|463/4812|262/810|88/269||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|7/10|c.262C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|3/10|c.262C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|1/10|c.262C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|4/10|c.262C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|5/10|c.262C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|8/10|c.262C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|2/10|c.262C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|6/10|c.262C>T||||||,A|5_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|3/11|n.-792C>T|||||11051|,A|upstream_gene_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000608548|processed_transcript||n.-1C>T|||||4889|,A|upstream_gene_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000473832|processed_transcript||n.-1C>T|||||2262|,A|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|3/11|n.-792C>T|||||| 22 19055688 . G A . . ANN=A|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|3/10|c.253C>T|p.Arg85Trp|501/4480|253/1653|85/550||,A|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|2/9|c.130C>T|p.Arg44Trp|378/4361|130/1530|44/509||,A|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|3/11|c.253C>T|p.Arg85Trp|454/4812|253/810|85/269||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|7/10|c.253C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|3/10|c.253C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|1/10|c.253C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|4/10|c.253C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|5/10|c.253C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|8/10|c.253C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|2/10|c.253C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|6/10|c.253C>T||||||,A|5_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|3/11|n.-801C>T|||||11060|,A|upstream_gene_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000608548|processed_transcript||n.-1C>T|||||4898|,A|upstream_gene_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000473832|processed_transcript||n.-1C>T|||||2271|,A|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|3/11|n.-801C>T|||||| 22 19076835 . A G . . ANN=G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|7/10|c.202+46T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|3/10|c.202+46T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|1/10|c.202+46T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|4/10|c.202+46T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|5/10|c.202+46T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|8/10|c.202+46T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|2/10|c.202+46T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|6/10|c.202+46T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:LDL-receptor_class_A|ENST00000263196|protein_coding|3/10|c.202+46T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:LDL-receptor_class_A|ENST00000263196|protein_coding|2/10|c.202+46T>C||||||,G|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|2/9|c.202+46T>C||||||,G|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|1/8|c.80-21097T>C||||||,G|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|2/10|n.-852+46T>C||||||,G|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|2/10|c.202+46T>C|||||| 22 19076866 . A G . . ANN=G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|7/10|c.202+15T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|3/10|c.202+15T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|1/10|c.202+15T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|4/10|c.202+15T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|5/10|c.202+15T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|8/10|c.202+15T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|2/10|c.202+15T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|6/10|c.202+15T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:LDL-receptor_class_A|ENST00000263196|protein_coding|3/10|c.202+15T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:LDL-receptor_class_A|ENST00000263196|protein_coding|2/10|c.202+15T>C||||||,G|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|2/9|c.202+15T>C||||||,G|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|1/8|c.80-21128T>C||||||,G|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|2/10|n.-852+15T>C||||||,G|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|2/10|c.202+15T>C|||||| 22 19076900 . G A . . ANN=A|synonymous_variant|LOW|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|2/10|c.183C>T|p.Ser61Ser|431/4480|183/1653|61/550||,A|synonymous_variant|LOW|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|2/11|c.183C>T|p.Ser61Ser|384/4812|183/810|61/269||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|7/10|c.183C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|3/10|c.183C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|1/10|c.183C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|4/10|c.183C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|5/10|c.183C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|8/10|c.183C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|2/10|c.183C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|6/10|c.183C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:LDL-receptor_class_A|ENST00000263196|protein_coding|3/10|c.183C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:LDL-receptor_class_A|ENST00000263196|protein_coding|2/10|c.183C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000263196|protein_coding|2/10|c.183C>T||||||,A|5_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|2/11|n.-871C>T|||||32272|,A|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|1/8|c.80-21162C>T||||||,A|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|2/11|n.-871C>T|||||| 22 19077030 . T C . . ANN=C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|7/10|c.80-27A>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|3/10|c.80-27A>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|1/10|c.80-27A>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|4/10|c.80-27A>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|5/10|c.80-27A>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|8/10|c.80-27A>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|2/10|c.80-27A>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|6/10|c.80-27A>G||||||,C|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|1/9|c.80-27A>G||||||,C|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|1/8|c.80-21292A>G||||||,C|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|1/10|n.-974-27A>G||||||,C|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|1/10|c.80-27A>G|||||| 22 19077038 . G A . . ANN=A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|7/10|c.80-35C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|3/10|c.80-35C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|1/10|c.80-35C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|4/10|c.80-35C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|5/10|c.80-35C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|8/10|c.80-35C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|2/10|c.80-35C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|6/10|c.80-35C>T||||||,A|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|1/9|c.80-35C>T||||||,A|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|1/8|c.80-21300C>T||||||,A|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|1/10|n.-974-35C>T||||||,A|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|1/10|c.80-35C>T|||||| 22 19077049 . C T . . ANN=T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|7/10|c.80-46G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|3/10|c.80-46G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|1/10|c.80-46G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|4/10|c.80-46G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|5/10|c.80-46G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|8/10|c.80-46G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|2/10|c.80-46G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|6/10|c.80-46G>A||||||,T|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|1/9|c.80-46G>A||||||,T|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|1/8|c.80-21311G>A||||||,T|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|1/10|n.-974-46G>A||||||,T|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|1/10|c.80-46G>A|||||| 22 19109597 . C A . . ANN=A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|7/10|c.79+44G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|3/10|c.79+44G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|1/10|c.79+44G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|4/10|c.79+44G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|5/10|c.79+44G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|8/10|c.79+44G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|2/10|c.79+44G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|6/10|c.79+44G>T||||||,A|upstream_gene_variant|MODIFIER|TSSK1A|ENSG00000231086|transcript|ENST00000450724|unitary_pseudogene||n.-1C>A|||||2795|,A|downstream_gene_variant|MODIFIER|AC004471.10|ENSG00000272682|transcript|ENST00000609936|lincRNA||n.*1514G>T|||||2225|,A|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|1/9|c.79+44G>T||||||,A|intron_variant|MODIFIER|AC004471.9|ENSG00000223461|transcript|ENST00000456035|antisense|1/1|n.424+132C>A||||||,A|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|1/8|c.79+44G>T||||||,A|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|1/10|n.-975+44G>T||||||,A|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|1/10|c.79+44G>T|||||| 22 19109609 . A C . . ANN=C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|7/10|c.79+32T>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|3/10|c.79+32T>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|1/10|c.79+32T>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|4/10|c.79+32T>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|5/10|c.79+32T>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|8/10|c.79+32T>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|2/10|c.79+32T>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|6/10|c.79+32T>G||||||,C|upstream_gene_variant|MODIFIER|TSSK1A|ENSG00000231086|transcript|ENST00000450724|unitary_pseudogene||n.-1A>C|||||2783|,C|downstream_gene_variant|MODIFIER|AC004471.10|ENSG00000272682|transcript|ENST00000609936|lincRNA||n.*1514T>G|||||2213|,C|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|1/9|c.79+32T>G||||||,C|intron_variant|MODIFIER|AC004471.9|ENSG00000223461|transcript|ENST00000456035|antisense|1/1|n.424+144A>C||||||,C|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|1/8|c.79+32T>G||||||,C|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|1/10|n.-975+32T>G||||||,C|intron_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|1/10|c.79+32T>G|||||| 22 19109689 . G A . . ANN=A|synonymous_variant|LOW|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|1/10|c.31C>T|p.Leu11Leu|279/4480|31/1653|11/550||,A|synonymous_variant|LOW|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|1/9|c.31C>T|p.Leu11Leu|279/4361|31/1530|11/509||,A|synonymous_variant|LOW|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|1/11|c.31C>T|p.Leu11Leu|232/4812|31/810|11/269||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|1/11|n.-1023C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|signal_peptide|ENST00000263196|protein_coding|1/10|c.31C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|signal_peptide|ENST00000537045|protein_coding|1/9|c.31C>T||||||,A|5_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|1/11|n.-1023C>T|||||65061|,A|upstream_gene_variant|MODIFIER|TSSK1A|ENSG00000231086|transcript|ENST00000450724|unitary_pseudogene||n.-1G>A|||||2703|,A|downstream_gene_variant|MODIFIER|AC004471.10|ENSG00000272682|transcript|ENST00000609936|lincRNA||n.*1514C>T|||||2133|,A|intron_variant|MODIFIER|AC004471.9|ENSG00000223461|transcript|ENST00000456035|antisense|1/1|n.424+224G>A||||||,A|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|1/11|n.-1023C>T|||||| 22 19109747 . G GGCTGCGTGACCCC . . ANN=GCTGCGTGACCCC|5_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|1/10|c.-29_-28insGGGGTCACGCAGC|||||29|,GCTGCGTGACCCC|5_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|1/9|c.-29_-28insGGGGTCACGCAGC|||||29|,GCTGCGTGACCCC|5_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|1/11|n.-1082_-1081insGGGGTCACGCAGC|||||65120|,GCTGCGTGACCCC|5_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|1/11|c.-29_-28insGGGGTCACGCAGC|||||29|,GCTGCGTGACCCC|upstream_gene_variant|MODIFIER|TSSK1A|ENSG00000231086|transcript|ENST00000450724|unitary_pseudogene||n.-1_-1insGCTGCGTGACCCC|||||2644|,GCTGCGTGACCCC|downstream_gene_variant|MODIFIER|AC004471.10|ENSG00000272682|transcript|ENST00000609936|lincRNA||n.*1514_*1514insGGGGTCACGCAGC|||||2074|,CGTGACCCCGCTG|intron_variant|MODIFIER|AC004471.9|ENSG00000223461|transcript|ENST00000456035|antisense|1/1|n.424+286_424+287insCGTGACCCCGCTG||||||INFO_REALIGN_3_PRIME,GCTGCGTGACCCC|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|1/11|n.-1082_-1081insGGGGTCACGCAGC|||||| 22 19109752 . G C . . ANN=C|5_prime_UTR_premature_start_codon_gain_variant|LOW|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|1/10|c.-33C>G||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|1/9|c.-33C>G||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|1/11|n.-1086C>G||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|1/11|c.-33C>G||||||,C|5_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|1/10|c.-33C>G|||||33|,C|5_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|1/9|c.-33C>G|||||33|,C|5_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|1/11|n.-1086C>G|||||65124|,C|5_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|1/11|c.-33C>G|||||33|,C|upstream_gene_variant|MODIFIER|TSSK1A|ENSG00000231086|transcript|ENST00000450724|unitary_pseudogene||n.-1G>C|||||2640|,C|downstream_gene_variant|MODIFIER|AC004471.10|ENSG00000272682|transcript|ENST00000609936|lincRNA||n.*1514C>G|||||2070|,C|intron_variant|MODIFIER|AC004471.9|ENSG00000223461|transcript|ENST00000456035|antisense|1/1|n.424+287G>C||||||,C|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|1/11|n.-1086C>G|||||| 22 19109753 . A G . . ANN=G|5_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|1/10|c.-34T>C|||||34|,G|5_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|1/9|c.-34T>C|||||34|,G|5_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|1/11|n.-1087T>C|||||65125|,G|5_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|1/11|c.-34T>C|||||34|,G|upstream_gene_variant|MODIFIER|TSSK1A|ENSG00000231086|transcript|ENST00000450724|unitary_pseudogene||n.-1A>G|||||2639|,G|downstream_gene_variant|MODIFIER|AC004471.10|ENSG00000272682|transcript|ENST00000609936|lincRNA||n.*1514T>C|||||2069|,G|intron_variant|MODIFIER|AC004471.9|ENSG00000223461|transcript|ENST00000456035|antisense|1/1|n.424+288A>G||||||,G|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|1/11|n.-1087T>C|||||| 22 19109764 . A G . . ANN=G|5_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|1/10|c.-45T>C|||||45|,G|5_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|1/9|c.-45T>C|||||45|,G|5_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|1/11|n.-1098T>C|||||65136|,G|5_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|1/11|c.-45T>C|||||45|,G|upstream_gene_variant|MODIFIER|TSSK1A|ENSG00000231086|transcript|ENST00000450724|unitary_pseudogene||n.-1A>G|||||2628|,G|downstream_gene_variant|MODIFIER|AC004471.10|ENSG00000272682|transcript|ENST00000609936|lincRNA||n.*1514T>C|||||2058|,G|intron_variant|MODIFIER|AC004471.9|ENSG00000223461|transcript|ENST00000456035|antisense|1/1|n.424+299A>G||||||,G|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|1/11|n.-1098T>C|||||| 22 19118901 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding|1/1|c.-12G>A|||||12|,A|3_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|10/10|c.*2808C>T|||||2808|,A|upstream_gene_variant|MODIFIER|AC004471.10|ENSG00000272682|transcript|ENST00000609936|lincRNA||n.-1C>T|||||2939|,A|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay||n.*926C>T|||||2549|,A|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron||n.*2101C>T|||||2580| 22 19118918 . C T . . ANN=T|synonymous_variant|LOW|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding|1/1|c.6C>T|p.Asp2Asp|598/1814|6/1077|2/358||,T|3_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|10/10|c.*2791G>A|||||2791|,T|upstream_gene_variant|MODIFIER|AC004471.10|ENSG00000272682|transcript|ENST00000609936|lincRNA||n.-1G>A|||||2956|,T|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay||n.*926G>A|||||2532|,T|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron||n.*2101G>A|||||2563| 22 19118973 . G A . . ANN=A|missense_variant|MODERATE|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding|1/1|c.61G>A|p.Gly21Ser|653/1814|61/1077|21/358||,A|sequence_feature|LOW|TSSK2|ENSG00000206203|domain:Protein_kinase|ENST00000399635|protein_coding|1/1|c.61G>A||||||,A|sequence_feature|LOW|TSSK2|ENSG00000206203|nucleotide_phosphate-binding_region:ATP|ENST00000399635|protein_coding|1/1|c.61G>A||||||,A|3_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|10/10|c.*2736C>T|||||2736|,A|upstream_gene_variant|MODIFIER|AC004471.10|ENSG00000272682|transcript|ENST00000609936|lincRNA||n.-1C>T|||||3011|,A|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay||n.*926C>T|||||2477|,A|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron||n.*2101C>T|||||2508| 22 19118992 . A G . . ANN=G|missense_variant|MODERATE|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding|1/1|c.80A>G|p.Lys27Arg|672/1814|80/1077|27/358||,G|sequence_feature|LOW|TSSK2|ENSG00000206203|domain:Protein_kinase|ENST00000399635|protein_coding|1/1|c.80A>G||||||,G|3_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|10/10|c.*2717T>C|||||2717|,G|upstream_gene_variant|MODIFIER|AC004471.10|ENSG00000272682|transcript|ENST00000609936|lincRNA||n.-1T>C|||||3030|,G|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay||n.*926T>C|||||2458|,G|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron||n.*2101T>C|||||2489| 22 19119136 . CTT C . . ANN=|frameshift_variant|HIGH|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding|1/1|c.225_226delTT|p.Thr75fs|817/1814|225/1077|75/358||,|sequence_feature|LOW|TSSK2|ENSG00000206203|domain:Protein_kinase|ENST00000399635|protein_coding|1/1|c.225_226delTT||||||,|3_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|10/10|c.*2571_*2572delAA|||||2571|,|upstream_gene_variant|MODIFIER|AC004471.10|ENSG00000272682|transcript|ENST00000609936|lincRNA||n.-1_-1delAA|||||3175|,|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay||n.*926_*926delAA|||||2313|,|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron||n.*2101_*2101delAA|||||2344|;LOF=(TSSK2|ENSG00000206203|1|1.00) 22 19119161 . C T . . ANN=T|synonymous_variant|LOW|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding|1/1|c.249C>T|p.Asp83Asp|841/1814|249/1077|83/358||,T|sequence_feature|LOW|TSSK2|ENSG00000206203|domain:Protein_kinase|ENST00000399635|protein_coding|1/1|c.249C>T||||||,T|3_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|10/10|c.*2548G>A|||||2548|,T|upstream_gene_variant|MODIFIER|AC004471.10|ENSG00000272682|transcript|ENST00000609936|lincRNA||n.-1G>A|||||3199|,T|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay||n.*926G>A|||||2289|,T|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron||n.*2101G>A|||||2320| 22 19119162 . G A . . ANN=A|missense_variant|MODERATE|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding|1/1|c.250G>A|p.Gly84Arg|842/1814|250/1077|84/358||,A|sequence_feature|LOW|TSSK2|ENSG00000206203|domain:Protein_kinase|ENST00000399635|protein_coding|1/1|c.250G>A||||||,A|3_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|10/10|c.*2547C>T|||||2547|,A|upstream_gene_variant|MODIFIER|AC004471.10|ENSG00000272682|transcript|ENST00000609936|lincRNA||n.-1C>T|||||3200|,A|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay||n.*926C>T|||||2288|,A|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron||n.*2101C>T|||||2319| 22 19119252 . C T . . ANN=T|missense_variant|MODERATE|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding|1/1|c.340C>T|p.Arg114Cys|932/1814|340/1077|114/358||,T|sequence_feature|LOW|TSSK2|ENSG00000206203|domain:Protein_kinase|ENST00000399635|protein_coding|1/1|c.340C>T||||||,T|3_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|10/10|c.*2457G>A|||||2457|,T|upstream_gene_variant|MODIFIER|AC004471.10|ENSG00000272682|transcript|ENST00000609936|lincRNA||n.-1G>A|||||3290|,T|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay||n.*926G>A|||||2198|,T|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron||n.*2101G>A|||||2229| 22 19119265 . G A . . ANN=A|missense_variant|MODERATE|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding|1/1|c.353G>A|p.Arg118Gln|945/1814|353/1077|118/358||,A|sequence_feature|LOW|TSSK2|ENSG00000206203|domain:Protein_kinase|ENST00000399635|protein_coding|1/1|c.353G>A||||||,A|3_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|10/10|c.*2444C>T|||||2444|,A|upstream_gene_variant|MODIFIER|AC004471.10|ENSG00000272682|transcript|ENST00000609936|lincRNA||n.-1C>T|||||3303|,A|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay||n.*926C>T|||||2185|,A|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron||n.*2101C>T|||||2216| 22 19119490 . A C . . ANN=C|missense_variant|MODERATE|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding|1/1|c.578A>C|p.Gln193Pro|1170/1814|578/1077|193/358||,C|sequence_feature|LOW|TSSK2|ENSG00000206203|domain:Protein_kinase|ENST00000399635|protein_coding|1/1|c.578A>C||||||,C|3_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|10/10|c.*2219T>G|||||2219|,C|upstream_gene_variant|MODIFIER|AC004471.10|ENSG00000272682|transcript|ENST00000609936|lincRNA||n.-1T>G|||||3528|,C|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay||n.*926T>G|||||1960|,C|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron||n.*2101T>G|||||1991| 22 19119502 . A G . . ANN=G|missense_variant|MODERATE|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding|1/1|c.590A>G|p.Tyr197Cys|1182/1814|590/1077|197/358||,G|sequence_feature|LOW|TSSK2|ENSG00000206203|domain:Protein_kinase|ENST00000399635|protein_coding|1/1|c.590A>G||||||,G|3_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|10/10|c.*2207T>C|||||2207|,G|upstream_gene_variant|MODIFIER|AC004471.10|ENSG00000272682|transcript|ENST00000609936|lincRNA||n.-1T>C|||||3540|,G|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay||n.*926T>C|||||1948|,G|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron||n.*2101T>C|||||1979| 22 19119522 . G A . . ANN=A|missense_variant|MODERATE|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding|1/1|c.610G>A|p.Val204Met|1202/1814|610/1077|204/358||,A|sequence_feature|LOW|TSSK2|ENSG00000206203|domain:Protein_kinase|ENST00000399635|protein_coding|1/1|c.610G>A||||||,A|3_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|10/10|c.*2187C>T|||||2187|,A|upstream_gene_variant|MODIFIER|AC004471.10|ENSG00000272682|transcript|ENST00000609936|lincRNA||n.-1C>T|||||3560|,A|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay||n.*926C>T|||||1928|,A|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron||n.*2101C>T|||||1959| 22 19119545 . C T . . ANN=T|synonymous_variant|LOW|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding|1/1|c.633C>T|p.Cys211Cys|1225/1814|633/1077|211/358||,T|sequence_feature|LOW|TSSK2|ENSG00000206203|domain:Protein_kinase|ENST00000399635|protein_coding|1/1|c.633C>T||||||,T|3_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|10/10|c.*2164G>A|||||2164|,T|upstream_gene_variant|MODIFIER|AC004471.10|ENSG00000272682|transcript|ENST00000609936|lincRNA||n.-1G>A|||||3583|,T|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay||n.*926G>A|||||1905|,T|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron||n.*2101G>A|||||1936| 22 19119549 . T C . . ANN=C|missense_variant|MODERATE|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding|1/1|c.637T>C|p.Ser213Pro|1229/1814|637/1077|213/358||,C|sequence_feature|LOW|TSSK2|ENSG00000206203|domain:Protein_kinase|ENST00000399635|protein_coding|1/1|c.637T>C||||||,C|3_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|10/10|c.*2160A>G|||||2160|,C|upstream_gene_variant|MODIFIER|AC004471.10|ENSG00000272682|transcript|ENST00000609936|lincRNA||n.-1A>G|||||3587|,C|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay||n.*926A>G|||||1901|,C|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron||n.*2101A>G|||||1932| 22 19119580 . A G . . ANN=G|missense_variant|MODERATE|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding|1/1|c.668A>G|p.Lys223Arg|1260/1814|668/1077|223/358||,G|sequence_feature|LOW|TSSK2|ENSG00000206203|domain:Protein_kinase|ENST00000399635|protein_coding|1/1|c.668A>G||||||,G|3_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|10/10|c.*2129T>C|||||2129|,G|upstream_gene_variant|MODIFIER|AC004471.10|ENSG00000272682|transcript|ENST00000609936|lincRNA||n.-1T>C|||||3618|,G|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay||n.*926T>C|||||1870|,G|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron||n.*2101T>C|||||1901| 22 19119589 . G A . . ANN=A|missense_variant|MODERATE|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding|1/1|c.677G>A|p.Arg226His|1269/1814|677/1077|226/358||,A|sequence_feature|LOW|TSSK2|ENSG00000206203|domain:Protein_kinase|ENST00000399635|protein_coding|1/1|c.677G>A||||||,A|3_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|10/10|c.*2120C>T|||||2120|,A|upstream_gene_variant|MODIFIER|AC004471.10|ENSG00000272682|transcript|ENST00000609936|lincRNA||n.-1C>T|||||3627|,A|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay||n.*926C>T|||||1861|,A|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron||n.*2101C>T|||||1892| 22 19119686 . C T . . ANN=T|synonymous_variant|LOW|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding|1/1|c.774C>T|p.Ser258Ser|1366/1814|774/1077|258/358||,T|sequence_feature|LOW|TSSK2|ENSG00000206203|domain:Protein_kinase|ENST00000399635|protein_coding|1/1|c.774C>T||||||,T|3_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|10/10|c.*2023G>A|||||2023|,T|upstream_gene_variant|MODIFIER|AC004471.10|ENSG00000272682|transcript|ENST00000609936|lincRNA||n.-1G>A|||||3724|,T|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay||n.*926G>A|||||1764|,T|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron||n.*2101G>A|||||1795| 22 19119721 . C T . . ANN=T|missense_variant|MODERATE|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding|1/1|c.809C>T|p.Ser270Leu|1401/1814|809/1077|270/358||,T|sequence_feature|LOW|TSSK2|ENSG00000206203|domain:Protein_kinase|ENST00000399635|protein_coding|1/1|c.809C>T||||||,T|3_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|10/10|c.*1988G>A|||||1988|,T|upstream_gene_variant|MODIFIER|AC004471.10|ENSG00000272682|transcript|ENST00000609936|lincRNA||n.-1G>A|||||3759|,T|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay||n.*926G>A|||||1729|,T|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron||n.*2101G>A|||||1760| 22 19119751 . C T . . ANN=T|missense_variant|MODERATE|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding|1/1|c.839C>T|p.Thr280Met|1431/1814|839/1077|280/358||,T|3_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|10/10|c.*1958G>A|||||1958|,T|upstream_gene_variant|MODIFIER|AC004471.10|ENSG00000272682|transcript|ENST00000609936|lincRNA||n.-1G>A|||||3789|,T|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay||n.*926G>A|||||1699|,T|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron||n.*2101G>A|||||1730| 22 19119825 . T C . . ANN=C|synonymous_variant|LOW|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding|1/1|c.913T>C|p.Leu305Leu|1505/1814|913/1077|305/358||,C|3_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|10/10|c.*1884A>G|||||1884|,C|upstream_gene_variant|MODIFIER|AC004471.10|ENSG00000272682|transcript|ENST00000609936|lincRNA||n.-1A>G|||||3863|,C|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay||n.*926A>G|||||1625|,C|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron||n.*2101A>G|||||1656| 22 19119833 . C T . . ANN=T|synonymous_variant|LOW|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding|1/1|c.921C>T|p.Pro307Pro|1513/1814|921/1077|307/358||,T|3_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|10/10|c.*1876G>A|||||1876|,T|upstream_gene_variant|MODIFIER|AC004471.10|ENSG00000272682|transcript|ENST00000609936|lincRNA||n.-1G>A|||||3871|,T|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay||n.*926G>A|||||1617|,T|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron||n.*2101G>A|||||1648| 22 19119938 . G A . . ANN=A|synonymous_variant|LOW|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding|1/1|c.1026G>A|p.Arg342Arg|1618/1814|1026/1077|342/358||,A|3_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|10/10|c.*1771C>T|||||1771|,A|upstream_gene_variant|MODIFIER|AC004471.10|ENSG00000272682|transcript|ENST00000609936|lincRNA||n.-1C>T|||||3976|,A|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay||n.*926C>T|||||1512|,A|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron||n.*2101C>T|||||1543| 22 19119960 . G A . . ANN=A|missense_variant|MODERATE|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding|1/1|c.1048G>A|p.Gly350Arg|1640/1814|1048/1077|350/358||,A|3_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|10/10|c.*1749C>T|||||1749|,A|upstream_gene_variant|MODIFIER|AC004471.10|ENSG00000272682|transcript|ENST00000609936|lincRNA||n.-1C>T|||||3998|,A|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay||n.*926C>T|||||1490|,A|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron||n.*2101C>T|||||1521| 22 19120005 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|10/10|c.*1704C>T|||||1704|,A|3_prime_UTR_variant|MODIFIER|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding|1/1|c.*16G>A|||||16|,A|upstream_gene_variant|MODIFIER|AC004471.10|ENSG00000272682|transcript|ENST00000609936|lincRNA||n.-1C>T|||||4043|,A|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay||n.*926C>T|||||1445|,A|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron||n.*2101C>T|||||1476| 22 19121681 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|10/10|c.*28G>A|||||28|,T|3_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|10/10|n.*651G>A|||||4252|,T|downstream_gene_variant|MODIFIER|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding||c.*1669C>T|||||1547|,T|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|10/10|n.*651G>A||||||,T|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron|10/10|n.1901G>A|||||| 22 19121721 . C T . . ANN=T|synonymous_variant|LOW|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|10/10|c.1419G>A|p.Ser473Ser|1463/5392|1419/1431|473/476||,T|3_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|10/10|n.*611G>A|||||4212|,T|downstream_gene_variant|MODIFIER|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding||c.*1669C>T|||||1587|,T|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|10/10|n.*611G>A||||||,T|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron|10/10|n.1861G>A|||||| 22 19121722 . G C . . ANN=C|missense_variant|MODERATE|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|10/10|c.1418C>G|p.Ser473Trp|1462/5392|1418/1431|473/476||,C|3_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|10/10|n.*610C>G|||||4211|,C|downstream_gene_variant|MODIFIER|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding||c.*1669G>C|||||1588|,C|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|10/10|n.*610C>G||||||,C|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron|10/10|n.1860C>G|||||| 22 19121872 . G A . . ANN=A|missense_variant|MODERATE|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|10/10|c.1268C>T|p.Ala423Val|1312/5392|1268/1431|423/476||,A|3_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|10/10|n.*460C>T|||||4061|,A|downstream_gene_variant|MODIFIER|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding||c.*1669G>A|||||1738|,A|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|10/10|n.*460C>T||||||,A|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron|10/10|n.1710C>T|||||| 22 19122016 . C T . . ANN=T|downstream_gene_variant|MODIFIER|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding||c.*1669C>T|||||1882|,T|intron_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|9/9|c.1152-28G>A||||||,T|intron_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|9/9|n.*344-28G>A||||||,T|intron_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron|9/9|n.1594-28G>A|||||| 22 19122035 . A C . . ANN=C|downstream_gene_variant|MODIFIER|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding||c.*1669A>C|||||1901|,C|intron_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|9/9|c.1152-47T>G||||||,C|intron_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|9/9|n.*344-47T>G||||||,C|intron_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron|9/9|n.1594-47T>G|||||| 22 19122562 . C T . . ANN=T|downstream_gene_variant|MODIFIER|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding||c.*1669C>T|||||2428|,T|intron_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|9/9|c.1151+11G>A||||||,T|intron_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|9/9|n.*343+11G>A||||||,T|intron_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron|9/9|n.1593+11G>A|||||| 22 19122632 . A T . . ANN=T|synonymous_variant|LOW|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|9/10|c.1092T>A|p.Ala364Ala|1136/5392|1092/1431|364/476||,T|3_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|9/10|n.*284T>A|||||3301|,T|downstream_gene_variant|MODIFIER|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding||c.*1669A>T|||||2498|,T|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|9/10|n.*284T>A||||||,T|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron|9/10|n.1534T>A|||||| 22 19122665 . C T . . ANN=T|synonymous_variant|LOW|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|9/10|c.1059G>A|p.Glu353Glu|1103/5392|1059/1431|353/476||,T|3_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|9/10|n.*251G>A|||||3268|,T|downstream_gene_variant|MODIFIER|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding||c.*1669C>T|||||2531|,T|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|9/10|n.*251G>A||||||,T|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron|9/10|n.1501G>A|||||| 22 19122691 . AC A . . ANN=|splice_region_variant&intron_variant|LOW|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|8/9|c.1036-4delG||||||,|splice_region_variant&intron_variant|LOW|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|8/9|n.*228-4delG||||||,|splice_region_variant&intron_variant|LOW|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron|8/9|n.1478-4delG||||||,|downstream_gene_variant|MODIFIER|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding||c.*1669delC|||||2558| 22 19122718 . C T . . ANN=T|downstream_gene_variant|MODIFIER|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding||c.*1669C>T|||||2584|,T|intron_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|8/9|c.1036-30G>A||||||,T|intron_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|8/9|n.*228-30G>A||||||,T|intron_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron|8/9|n.1478-30G>A|||||| 22 19124820 . C T . . ANN=T|downstream_gene_variant|MODIFIER|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding||c.*1669C>T|||||4686|,T|intron_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|8/9|c.1035+16G>A||||||,T|intron_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|8/9|n.*227+16G>A||||||,T|intron_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron|8/9|n.1477+16G>A|||||| 22 19124822 . T A . . ANN=A|downstream_gene_variant|MODIFIER|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding||c.*1669T>A|||||4688|,A|intron_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|8/9|c.1035+14A>T||||||,A|intron_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|8/9|n.*227+14A>T||||||,A|intron_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron|8/9|n.1477+14A>T|||||| 22 19124865 . C T . . ANN=T|missense_variant|MODERATE|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|8/10|c.1006G>A|p.Val336Met|1050/5392|1006/1431|336/476||,T|3_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|8/10|n.*198G>A|||||1068|,T|downstream_gene_variant|MODIFIER|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding||c.*1669C>T|||||4731|,T|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|8/10|n.*198G>A||||||,T|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron|8/10|n.1448G>A|||||| 22 19124866 . G A . . ANN=A|synonymous_variant|LOW|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|8/10|c.1005C>T|p.Tyr335Tyr|1049/5392|1005/1431|335/476||,A|3_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|8/10|n.*197C>T|||||1067|,A|downstream_gene_variant|MODIFIER|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding||c.*1669G>A|||||4732|,A|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|8/10|n.*197C>T||||||,A|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron|8/10|n.1447C>T|||||| 22 19124902 . G A . . ANN=A|synonymous_variant|LOW|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|8/10|c.969C>T|p.Asn323Asn|1013/5392|969/1431|323/476||,A|3_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|8/10|n.*161C>T|||||1031|,A|downstream_gene_variant|MODIFIER|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding||c.*1669G>A|||||4768|,A|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|8/10|n.*161C>T||||||,A|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron|8/10|n.1411C>T|||||| 22 19124938 . G A . . ANN=A|synonymous_variant|LOW|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|8/10|c.933C>T|p.Asn311Asn|977/5392|933/1431|311/476||,A|3_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|8/10|n.*125C>T|||||995|,A|downstream_gene_variant|MODIFIER|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding||c.*1669G>A|||||4804|,A|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|8/10|n.*125C>T||||||,A|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron|8/10|n.1375C>T|||||| 22 19125772 . C T . . ANN=T|missense_variant|MODERATE|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|7/10|c.881G>A|p.Arg294Gln|925/5392|881/1431|294/476||,T|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000469466|retained_intron||n.*581G>A|||||4591|,T|intron_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|7/9|n.*117+44G>A||||||,T|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron|7/10|n.1323G>A|||||| 22 19126623 . C T . . ANN=T|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000469466|retained_intron||n.*581G>A|||||3740|,T|intron_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|6/9|c.822+49G>A||||||,T|intron_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|6/9|n.822+49G>A||||||,T|intron_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron|6/9|n.1264+49G>A|||||| 22 19126631 . T C . . ANN=C|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000469466|retained_intron||n.*581A>G|||||3732|,C|intron_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|6/9|c.822+41A>G||||||,C|intron_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|6/9|n.822+41A>G||||||,C|intron_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron|6/9|n.1264+41A>G|||||| 22 19126794 . C T . . ANN=T|missense_variant|MODERATE|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|6/10|c.700G>A|p.Glu234Lys|744/5392|700/1431|234/476||,T|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000469466|retained_intron||n.*581G>A|||||3569|,T|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|6/10|n.700G>A||||||,T|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron|6/10|n.1142G>A|||||| 22 19126814 . C T . . ANN=T|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000469466|retained_intron||n.*581G>A|||||3549|,T|intron_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|5/9|c.689-9G>A||||||,T|intron_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|5/9|n.689-9G>A||||||,T|intron_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron|5/9|n.1131-9G>A|||||| 22 19127101 . T C . . ANN=C|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000469466|retained_intron||n.*581A>G|||||3262|,C|intron_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|5/9|c.688+24A>G||||||,C|intron_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|5/9|n.688+24A>G||||||,C|intron_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron|5/9|n.1130+24A>G|||||| 22 19127119 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|5/9|c.688+6T>C||||||,G|splice_region_variant&intron_variant|LOW|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|5/9|n.688+6T>C||||||,G|splice_region_variant&intron_variant|LOW|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron|5/9|n.1130+6T>C||||||,G|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000469466|retained_intron||n.*581T>C|||||3244| 22 19127222 . T A . . ANN=A|missense_variant|MODERATE|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|5/10|c.591A>T|p.Glu197Asp|635/5392|591/1431|197/476||,A|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000469466|retained_intron||n.*581A>T|||||3141|,A|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|5/10|n.591A>T||||||,A|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron|5/10|n.1033A>T|||||| 22 19127318 . C T . . ANN=T|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000469466|retained_intron||n.*581G>A|||||3045|,T|intron_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|4/9|c.570+50G>A||||||,T|intron_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|4/9|n.570+50G>A||||||,T|intron_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron|4/9|n.1012+50G>A|||||| 22 19127342 . T A . . ANN=A|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000469466|retained_intron||n.*581A>T|||||3021|,A|intron_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|4/9|c.570+26A>T||||||,A|intron_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|4/9|n.570+26A>T||||||,A|intron_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron|4/9|n.1012+26A>T|||||| 22 19127404 . G A . . ANN=A|synonymous_variant|LOW|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|4/10|c.534C>T|p.His178His|578/5392|534/1431|178/476||,A|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000469466|retained_intron||n.*581C>T|||||2959|,A|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|4/10|n.534C>T||||||,A|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron|4/10|n.976C>T|||||| 22 19127488 . G A . . ANN=A|synonymous_variant|LOW|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|4/10|c.450C>T|p.Val150Val|494/5392|450/1431|150/476||,A|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000469466|retained_intron||n.*581C>T|||||2875|,A|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|4/10|n.450C>T||||||,A|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron|4/10|n.892C>T|||||| 22 19130004 . C T . . ANN=T|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000469466|retained_intron||n.*581G>A|||||359|,T|intron_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|3/9|c.400+47G>A||||||,T|intron_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|3/9|n.400+47G>A||||||,T|intron_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron|3/9|n.842+47G>A|||||| 22 19130064 . T C . . ANN=C|synonymous_variant|LOW|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|3/10|c.387A>G|p.Arg129Arg|431/5392|387/1431|129/476||,C|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000469466|retained_intron||n.*581A>G|||||299|,C|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|3/10|n.387A>G||||||,C|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron|3/10|n.829A>G|||||| 22 19130247 . G A . . ANN=A|missense_variant|MODERATE|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|2/10|c.296C>T|p.Pro99Leu|340/5392|296/1431|99/476||,A|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000469466|retained_intron||n.*581C>T|||||116|,A|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|2/10|n.296C>T||||||,A|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron|2/10|n.738C>T|||||| 22 19130345 . C T . . ANN=T|synonymous_variant|LOW|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|2/10|c.198G>A|p.Lys66Lys|242/5392|198/1431|66/476||,T|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000469466|retained_intron||n.*581G>A|||||18|,T|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|2/10|n.198G>A||||||,T|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron|2/10|n.640G>A|||||| 22 19130445 . C T . . ANN=T|intron_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|1/9|c.136-38G>A||||||,T|intron_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|1/9|n.136-38G>A||||||,T|intron_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron|1/9|n.578-38G>A||||||,T|intron_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000469466|retained_intron|1/1|n.537-38G>A|||||| 22 19132011 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|1/9|c.135+8C>T||||||,A|splice_region_variant&intron_variant|LOW|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|1/9|n.135+8C>T||||||,A|downstream_gene_variant|MODIFIER|GSC2|ENSG00000063515|transcript|ENST00000086933|protein_coding||c.*618C>T|||||4078|,A|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron|1/10|n.136C>T||||||,A|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000469466|retained_intron|1/2|n.162C>T|||||| 22 19132061 . C T . . ANN=T|synonymous_variant|LOW|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|1/10|c.93G>A|p.Ala31Ala|137/5392|93/1431|31/476||,T|downstream_gene_variant|MODIFIER|GSC2|ENSG00000063515|transcript|ENST00000086933|protein_coding||c.*618G>A|||||4028|,T|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|1/10|n.93G>A||||||,T|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron|1/10|n.86G>A||||||,T|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000469466|retained_intron|1/2|n.112G>A|||||| 22 19132062 . G A . . ANN=A|missense_variant|MODERATE|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|1/10|c.92C>T|p.Ala31Val|136/5392|92/1431|31/476||,A|downstream_gene_variant|MODIFIER|GSC2|ENSG00000063515|transcript|ENST00000086933|protein_coding||c.*618C>T|||||4027|,A|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|1/10|n.92C>T||||||,A|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron|1/10|n.85C>T||||||,A|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000469466|retained_intron|1/2|n.111C>T|||||| 22 19132135 . A C . . ANN=C|missense_variant|MODERATE|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|1/10|c.19T>G|p.Ser7Ala|63/5392|19/1431|7/476||,C|downstream_gene_variant|MODIFIER|GSC2|ENSG00000063515|transcript|ENST00000086933|protein_coding||c.*618T>G|||||3954|,C|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|1/10|n.19T>G||||||,C|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron|1/10|n.12T>G||||||,C|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000469466|retained_intron|1/2|n.38T>G|||||| 22 19132155 . G C . . ANN=C|5_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|1/10|c.-2C>G|||||2|,C|5_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|1/10|n.-2C>G|||||2|,C|upstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron||n.-1C>G|||||9|,C|downstream_gene_variant|MODIFIER|GSC2|ENSG00000063515|transcript|ENST00000086933|protein_coding||c.*618C>G|||||3934|,C|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|1/10|n.-2C>G||||||,C|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000469466|retained_intron|1/2|n.18C>G|||||| 22 19132160 . C A . . ANN=A|5_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|1/10|c.-7G>T|||||7|,A|5_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|1/10|n.-7G>T|||||7|,A|upstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron||n.-1G>T|||||14|,A|downstream_gene_variant|MODIFIER|GSC2|ENSG00000063515|transcript|ENST00000086933|protein_coding||c.*618G>T|||||3929|,A|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|1/10|n.-7G>T||||||,A|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000469466|retained_intron|1/2|n.13G>T|||||| 22 19132196 . G A . . ANN=A|5_prime_UTR_premature_start_codon_gain_variant|LOW|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|1/10|c.-43C>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|1/10|n.-43C>T||||||,A|5_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|1/10|c.-43C>T|||||43|,A|5_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|1/10|n.-43C>T|||||43|,A|upstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron||n.-1C>T|||||50|,A|upstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000469466|retained_intron||n.-1C>T|||||24|,A|downstream_gene_variant|MODIFIER|GSC2|ENSG00000063515|transcript|ENST00000086933|protein_coding||c.*618C>T|||||3893|,A|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|1/10|n.-43C>T|||||| 22 19136508 . C G . . ANN=G|missense_variant|MODERATE|GSC2|ENSG00000063515|transcript|ENST00000086933|protein_coding|3/3|c.614G>C|p.Cys205Ser|614/1033|614/618|205/205||,G|upstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding||c.-45G>C|||||4311|,G|upstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay||n.-45G>C|||||4311|,G|upstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron||n.-1G>C|||||4362|,G|upstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000469466|retained_intron||n.-1G>C|||||4336| 22 19136565 . C T . . ANN=T|missense_variant|MODERATE|GSC2|ENSG00000063515|transcript|ENST00000086933|protein_coding|3/3|c.557G>A|p.Arg186His|557/1033|557/618|186/205||,T|upstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding||c.-45G>A|||||4368|,T|upstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay||n.-45G>A|||||4368|,T|upstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron||n.-1G>A|||||4419|,T|upstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000469466|retained_intron||n.-1G>A|||||4393| 22 19136585 . G A . . ANN=A|synonymous_variant|LOW|GSC2|ENSG00000063515|transcript|ENST00000086933|protein_coding|3/3|c.537C>T|p.Ala179Ala|537/1033|537/618|179/205||,A|sequence_feature|LOW|GSC2|ENSG00000063515|DNA-binding_region:Homeobox|ENST00000086933|protein_coding|3/3|c.537C>T||||||,A|sequence_feature|LOW|GSC2|ENSG00000063515|DNA-binding_region:Homeobox|ENST00000086933|protein_coding|2/3|c.537C>T||||||,A|upstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding||c.-45C>T|||||4388|,A|upstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay||n.-45C>T|||||4388|,A|upstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron||n.-1C>T|||||4439|,A|upstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000469466|retained_intron||n.-1C>T|||||4413| 22 19136621 . G T . . ANN=T|sequence_feature|LOW|GSC2|ENSG00000063515|DNA-binding_region:Homeobox|ENST00000086933|protein_coding|3/3|c.514-13C>A||||||,T|sequence_feature|LOW|GSC2|ENSG00000063515|DNA-binding_region:Homeobox|ENST00000086933|protein_coding|2/3|c.514-13C>A||||||,T|upstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding||c.-45C>A|||||4424|,T|upstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay||n.-45C>A|||||4424|,T|upstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron||n.-1C>A|||||4475|,T|upstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000469466|retained_intron||n.-1C>A|||||4449|,T|intron_variant|MODIFIER|GSC2|ENSG00000063515|transcript|ENST00000086933|protein_coding|2/2|c.514-13C>A|||||| 22 19136631 . G A . . ANN=A|sequence_feature|LOW|GSC2|ENSG00000063515|DNA-binding_region:Homeobox|ENST00000086933|protein_coding|3/3|c.514-23C>T||||||,A|sequence_feature|LOW|GSC2|ENSG00000063515|DNA-binding_region:Homeobox|ENST00000086933|protein_coding|2/3|c.514-23C>T||||||,A|upstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding||c.-45C>T|||||4434|,A|upstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay||n.-45C>T|||||4434|,A|upstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron||n.-1C>T|||||4485|,A|upstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000469466|retained_intron||n.-1C>T|||||4459|,A|intron_variant|MODIFIER|GSC2|ENSG00000063515|transcript|ENST00000086933|protein_coding|2/2|c.514-23C>T|||||| 22 19137141 . G A . . ANN=A|sequence_feature|LOW|GSC2|ENSG00000063515|DNA-binding_region:Homeobox|ENST00000086933|protein_coding|3/3|c.513+35C>T||||||,A|sequence_feature|LOW|GSC2|ENSG00000063515|DNA-binding_region:Homeobox|ENST00000086933|protein_coding|2/3|c.513+35C>T||||||,A|upstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding||c.-45C>T|||||4944|,A|upstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay||n.-45C>T|||||4944|,A|upstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron||n.-1C>T|||||4995|,A|upstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000469466|retained_intron||n.-1C>T|||||4969|,A|intron_variant|MODIFIER|GSC2|ENSG00000063515|transcript|ENST00000086933|protein_coding|2/2|c.513+35C>T|||||| 22 19137290 . G A . . ANN=A|synonymous_variant|LOW|GSC2|ENSG00000063515|transcript|ENST00000086933|protein_coding|2/3|c.399C>T|p.Phe133Phe|399/1033|399/618|133/205||,A|sequence_feature|LOW|GSC2|ENSG00000063515|DNA-binding_region:Homeobox|ENST00000086933|protein_coding|3/3|c.399C>T||||||,A|sequence_feature|LOW|GSC2|ENSG00000063515|DNA-binding_region:Homeobox|ENST00000086933|protein_coding|2/3|c.399C>T|||||| 22 19163606 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000215882|protein_coding|9/9|c.*37G>A|||||37|,T|3_prime_UTR_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000451283|protein_coding|9/9|c.*37G>A|||||37|,T|downstream_gene_variant|MODIFIER|AC004463.6|ENSG00000260924|transcript|ENST00000565162|antisense||n.*1445C>T|||||3254|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding||c.*4996G>A|||||3380|,T|downstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000461267|processed_transcript||n.*804G>A|||||574|,T|downstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000468824|processed_transcript||n.*307G>A|||||1897|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding||c.*4796G>A|||||3380|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000412649|retained_intron||n.*4635G>A|||||3383|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript||n.*1714G>A|||||3383|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding||c.*4998G>A|||||3383|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript||n.*1695G>A|||||3682|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron||n.*4994G>A|||||4640|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay||n.*3803G>A|||||4640|,T|non_coding_exon_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000470922|retained_intron|8/8|n.1115G>A|||||| 22 19163685 . A G . . ANN=G|synonymous_variant|LOW|SLC25A1|ENSG00000100075|transcript|ENST00000215882|protein_coding|9/9|c.894T>C|p.Asp298Asp|1051/1641|894/936|298/311||,G|synonymous_variant|LOW|SLC25A1|ENSG00000100075|transcript|ENST00000451283|protein_coding|9/9|c.585T>C|p.Asp195Asp|935/1514|585/627|195/208||,G|sequence_feature|LOW|SLC25A1|ENSG00000100075|repeat:Solcar_3|ENST00000215882|protein_coding|9/9|c.894T>C||||||,G|sequence_feature|LOW|SLC25A1|ENSG00000100075|repeat:Solcar_3|ENST00000215882|protein_coding|7/9|c.894T>C||||||,G|sequence_feature|LOW|SLC25A1|ENSG00000100075|repeat:Solcar_3|ENST00000215882|protein_coding|8/9|c.894T>C||||||,G|downstream_gene_variant|MODIFIER|AC004463.6|ENSG00000260924|transcript|ENST00000565162|antisense||n.*1445A>G|||||3333|,G|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding||c.*4996T>C|||||3301|,G|downstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000461267|processed_transcript||n.*804T>C|||||495|,G|downstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000468824|processed_transcript||n.*307T>C|||||1818|,G|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding||c.*4796T>C|||||3301|,G|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000412649|retained_intron||n.*4635T>C|||||3304|,G|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript||n.*1714T>C|||||3304|,G|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding||c.*4998T>C|||||3304|,G|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript||n.*1695T>C|||||3603|,G|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron||n.*4994T>C|||||4561|,G|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay||n.*3803T>C|||||4561|,G|non_coding_exon_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000470922|retained_intron|8/8|n.1036T>C|||||| 22 19163776 . G A . . ANN=A|sequence_feature|LOW|SLC25A1|ENSG00000100075|repeat:Solcar_3|ENST00000215882|protein_coding|9/9|c.822-19C>T||||||,A|sequence_feature|LOW|SLC25A1|ENSG00000100075|repeat:Solcar_3|ENST00000215882|protein_coding|7/9|c.822-19C>T||||||,A|sequence_feature|LOW|SLC25A1|ENSG00000100075|repeat:Solcar_3|ENST00000215882|protein_coding|8/9|c.822-19C>T||||||,A|downstream_gene_variant|MODIFIER|AC004463.6|ENSG00000260924|transcript|ENST00000565162|antisense||n.*1445G>A|||||3424|,A|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding||c.*4996C>T|||||3210|,A|downstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000461267|processed_transcript||n.*804C>T|||||404|,A|downstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000468824|processed_transcript||n.*307C>T|||||1727|,A|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding||c.*4796C>T|||||3210|,A|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000412649|retained_intron||n.*4635C>T|||||3213|,A|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript||n.*1714C>T|||||3213|,A|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding||c.*4998C>T|||||3213|,A|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript||n.*1695C>T|||||3512|,A|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron||n.*4994C>T|||||4470|,A|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay||n.*3803C>T|||||4470|,A|intron_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000215882|protein_coding|8/8|c.822-19C>T||||||,A|intron_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000451283|protein_coding|8/8|c.513-19C>T||||||,A|intron_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000470922|retained_intron|7/7|n.964-19C>T|||||| 22 19163941 . G T . . ANN=T|missense_variant|MODERATE|SLC25A1|ENSG00000100075|transcript|ENST00000215882|protein_coding|8/9|c.814C>A|p.Leu272Ile|971/1641|814/936|272/311||,T|missense_variant|MODERATE|SLC25A1|ENSG00000100075|transcript|ENST00000451283|protein_coding|8/9|c.505C>A|p.Leu169Ile|855/1514|505/627|169/208||,T|sequence_feature|LOW|SLC25A1|ENSG00000100075|repeat:Solcar_3|ENST00000215882|protein_coding|9/9|c.814C>A||||||,T|sequence_feature|LOW|SLC25A1|ENSG00000100075|repeat:Solcar_3|ENST00000215882|protein_coding|7/9|c.814C>A||||||,T|sequence_feature|LOW|SLC25A1|ENSG00000100075|repeat:Solcar_3|ENST00000215882|protein_coding|8/9|c.814C>A||||||,T|downstream_gene_variant|MODIFIER|AC004463.6|ENSG00000260924|transcript|ENST00000565162|antisense||n.*1445G>T|||||3589|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding||c.*4996C>A|||||3045|,T|downstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000461267|processed_transcript||n.*804C>A|||||239|,T|downstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000468824|processed_transcript||n.*307C>A|||||1562|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding||c.*4796C>A|||||3045|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000412649|retained_intron||n.*4635C>A|||||3048|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript||n.*1714C>A|||||3048|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding||c.*4998C>A|||||3048|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript||n.*1695C>A|||||3347|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron||n.*4994C>A|||||4305|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay||n.*3803C>A|||||4305|,T|non_coding_exon_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000470922|retained_intron|7/8|n.956C>A|||||| 22 19163968 . C T . . ANN=T|missense_variant|MODERATE|SLC25A1|ENSG00000100075|transcript|ENST00000215882|protein_coding|8/9|c.787G>A|p.Gly263Ser|944/1641|787/936|263/311||,T|missense_variant|MODERATE|SLC25A1|ENSG00000100075|transcript|ENST00000451283|protein_coding|8/9|c.478G>A|p.Gly160Ser|828/1514|478/627|160/208||,T|sequence_feature|LOW|SLC25A1|ENSG00000100075|repeat:Solcar_3|ENST00000215882|protein_coding|9/9|c.787G>A||||||,T|sequence_feature|LOW|SLC25A1|ENSG00000100075|repeat:Solcar_3|ENST00000215882|protein_coding|7/9|c.787G>A||||||,T|sequence_feature|LOW|SLC25A1|ENSG00000100075|repeat:Solcar_3|ENST00000215882|protein_coding|8/9|c.787G>A||||||,T|downstream_gene_variant|MODIFIER|AC004463.6|ENSG00000260924|transcript|ENST00000565162|antisense||n.*1445C>T|||||3616|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding||c.*4996G>A|||||3018|,T|downstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000461267|processed_transcript||n.*804G>A|||||212|,T|downstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000468824|processed_transcript||n.*307G>A|||||1535|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding||c.*4796G>A|||||3018|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000412649|retained_intron||n.*4635G>A|||||3021|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript||n.*1714G>A|||||3021|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding||c.*4998G>A|||||3021|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript||n.*1695G>A|||||3320|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron||n.*4994G>A|||||4278|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay||n.*3803G>A|||||4278|,T|non_coding_exon_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000470922|retained_intron|7/8|n.929G>A|||||| 22 19164152 . A G . . ANN=G|missense_variant|MODERATE|SLC25A1|ENSG00000100075|transcript|ENST00000215882|protein_coding|7/9|c.686T>C|p.Ile229Thr|843/1641|686/936|229/311||,G|missense_variant|MODERATE|SLC25A1|ENSG00000100075|transcript|ENST00000451283|protein_coding|7/9|c.377T>C|p.Ile126Thr|727/1514|377/627|126/208||,G|sequence_feature|LOW|SLC25A1|ENSG00000100075|repeat:Solcar_3|ENST00000215882|protein_coding|9/9|c.686T>C||||||,G|sequence_feature|LOW|SLC25A1|ENSG00000100075|repeat:Solcar_3|ENST00000215882|protein_coding|7/9|c.686T>C||||||,G|sequence_feature|LOW|SLC25A1|ENSG00000100075|repeat:Solcar_3|ENST00000215882|protein_coding|8/9|c.686T>C||||||,G|sequence_feature|LOW|SLC25A1|ENSG00000100075|transmembrane_region:Transmembrane_region|ENST00000215882|protein_coding|7/9|c.686T>C||||||,G|downstream_gene_variant|MODIFIER|AC004463.6|ENSG00000260924|transcript|ENST00000565162|antisense||n.*1445A>G|||||3800|,G|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding||c.*4996T>C|||||2834|,G|downstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000461267|processed_transcript||n.*804T>C|||||28|,G|downstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000468824|processed_transcript||n.*307T>C|||||1351|,G|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding||c.*4796T>C|||||2834|,G|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000412649|retained_intron||n.*4635T>C|||||2837|,G|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript||n.*1714T>C|||||2837|,G|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding||c.*4998T>C|||||2837|,G|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript||n.*1695T>C|||||3136|,G|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron||n.*4994T>C|||||4094|,G|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay||n.*3803T>C|||||4094|,G|non_coding_exon_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000470922|retained_intron|6/8|n.828T>C|||||| 22 19164312 . G A . . ANN=A|downstream_gene_variant|MODIFIER|AC004463.6|ENSG00000260924|transcript|ENST00000565162|antisense||n.*1445G>A|||||3960|,A|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding||c.*4996C>T|||||2674|,A|downstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000468824|processed_transcript||n.*307C>T|||||1191|,A|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding||c.*4796C>T|||||2674|,A|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000412649|retained_intron||n.*4635C>T|||||2677|,A|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript||n.*1714C>T|||||2677|,A|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding||c.*4998C>T|||||2677|,A|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript||n.*1695C>T|||||2976|,A|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron||n.*4994C>T|||||3934|,A|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay||n.*3803C>T|||||3934|,A|intron_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000215882|protein_coding|6/8|c.631+47C>T||||||,A|intron_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000451283|protein_coding|6/8|c.322+47C>T||||||,A|intron_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000470922|retained_intron|5/7|n.773+47C>T||||||,A|intron_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000461267|processed_transcript|5/5|n.777+47C>T|||||| 22 19164401 . T C . . ANN=C|missense_variant|MODERATE|SLC25A1|ENSG00000100075|transcript|ENST00000215882|protein_coding|6/9|c.589A>G|p.Ile197Val|746/1641|589/936|197/311||,C|missense_variant|MODERATE|SLC25A1|ENSG00000100075|transcript|ENST00000451283|protein_coding|6/9|c.280A>G|p.Ile94Val|630/1514|280/627|94/208||,C|sequence_feature|LOW|SLC25A1|ENSG00000100075|repeat:Solcar_2|ENST00000215882|protein_coding|6/9|c.589A>G||||||,C|sequence_feature|LOW|SLC25A1|ENSG00000100075|repeat:Solcar_2|ENST00000215882|protein_coding|5/9|c.589A>G||||||,C|sequence_feature|LOW|SLC25A1|ENSG00000100075|repeat:Solcar_2|ENST00000215882|protein_coding|4/9|c.589A>G||||||,C|sequence_feature|LOW|SLC25A1|ENSG00000100075|transmembrane_region:Transmembrane_region|ENST00000215882|protein_coding|6/9|c.589A>G||||||,C|downstream_gene_variant|MODIFIER|AC004463.6|ENSG00000260924|transcript|ENST00000565162|antisense||n.*1445T>C|||||4049|,C|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding||c.*4996A>G|||||2585|,C|downstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000468824|processed_transcript||n.*307A>G|||||1102|,C|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding||c.*4796A>G|||||2585|,C|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000412649|retained_intron||n.*4635A>G|||||2588|,C|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript||n.*1714A>G|||||2588|,C|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding||c.*4998A>G|||||2588|,C|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript||n.*1695A>G|||||2887|,C|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron||n.*4994A>G|||||3845|,C|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay||n.*3803A>G|||||3845|,C|non_coding_exon_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000470922|retained_intron|5/8|n.731A>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000461267|processed_transcript|5/6|n.735A>G|||||| 22 19164504 . G A . . ANN=A|sequence_feature|LOW|SLC25A1|ENSG00000100075|repeat:Solcar_2|ENST00000215882|protein_coding|6/9|c.527-41C>T||||||,A|sequence_feature|LOW|SLC25A1|ENSG00000100075|repeat:Solcar_2|ENST00000215882|protein_coding|5/9|c.527-41C>T||||||,A|sequence_feature|LOW|SLC25A1|ENSG00000100075|repeat:Solcar_2|ENST00000215882|protein_coding|4/9|c.527-41C>T||||||,A|downstream_gene_variant|MODIFIER|AC004463.6|ENSG00000260924|transcript|ENST00000565162|antisense||n.*1445G>A|||||4152|,A|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding||c.*4996C>T|||||2482|,A|downstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000468824|processed_transcript||n.*307C>T|||||999|,A|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding||c.*4796C>T|||||2482|,A|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000412649|retained_intron||n.*4635C>T|||||2485|,A|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript||n.*1714C>T|||||2485|,A|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding||c.*4998C>T|||||2485|,A|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript||n.*1695C>T|||||2784|,A|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron||n.*4994C>T|||||3742|,A|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay||n.*3803C>T|||||3742|,A|intron_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000215882|protein_coding|5/8|c.527-41C>T||||||,A|intron_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000451283|protein_coding|5/8|c.218-41C>T||||||,A|intron_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000470922|retained_intron|4/7|n.669-41C>T||||||,A|intron_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000461267|processed_transcript|4/5|n.673-41C>T|||||| 22 19164509 . C A . . ANN=A|sequence_feature|LOW|SLC25A1|ENSG00000100075|repeat:Solcar_2|ENST00000215882|protein_coding|6/9|c.527-46G>T||||||,A|sequence_feature|LOW|SLC25A1|ENSG00000100075|repeat:Solcar_2|ENST00000215882|protein_coding|5/9|c.527-46G>T||||||,A|sequence_feature|LOW|SLC25A1|ENSG00000100075|repeat:Solcar_2|ENST00000215882|protein_coding|4/9|c.527-46G>T||||||,A|downstream_gene_variant|MODIFIER|AC004463.6|ENSG00000260924|transcript|ENST00000565162|antisense||n.*1445C>A|||||4157|,A|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding||c.*4996G>T|||||2477|,A|downstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000468824|processed_transcript||n.*307G>T|||||994|,A|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding||c.*4796G>T|||||2477|,A|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000412649|retained_intron||n.*4635G>T|||||2480|,A|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript||n.*1714G>T|||||2480|,A|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding||c.*4998G>T|||||2480|,A|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript||n.*1695G>T|||||2779|,A|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron||n.*4994G>T|||||3737|,A|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay||n.*3803G>T|||||3737|,A|intron_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000215882|protein_coding|5/8|c.527-46G>T||||||,A|intron_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000451283|protein_coding|5/8|c.218-46G>T||||||,A|intron_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000470922|retained_intron|4/7|n.669-46G>T||||||,A|intron_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000461267|processed_transcript|4/5|n.673-46G>T|||||| 22 19164688 . T G . . ANN=G|synonymous_variant|LOW|SLC25A1|ENSG00000100075|transcript|ENST00000215882|protein_coding|5/9|c.471A>C|p.Pro157Pro|628/1641|471/936|157/311||,G|synonymous_variant|LOW|SLC25A1|ENSG00000100075|transcript|ENST00000451283|protein_coding|5/9|c.162A>C|p.Pro54Pro|512/1514|162/627|54/208||,G|sequence_feature|LOW|SLC25A1|ENSG00000100075|repeat:Solcar_2|ENST00000215882|protein_coding|6/9|c.471A>C||||||,G|sequence_feature|LOW|SLC25A1|ENSG00000100075|repeat:Solcar_2|ENST00000215882|protein_coding|5/9|c.471A>C||||||,G|sequence_feature|LOW|SLC25A1|ENSG00000100075|repeat:Solcar_2|ENST00000215882|protein_coding|4/9|c.471A>C||||||,G|downstream_gene_variant|MODIFIER|AC004463.6|ENSG00000260924|transcript|ENST00000565162|antisense||n.*1445T>G|||||4336|,G|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding||c.*4996A>C|||||2298|,G|downstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000468824|processed_transcript||n.*307A>C|||||815|,G|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding||c.*4796A>C|||||2298|,G|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000412649|retained_intron||n.*4635A>C|||||2301|,G|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript||n.*1714A>C|||||2301|,G|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding||c.*4998A>C|||||2301|,G|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript||n.*1695A>C|||||2600|,G|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron||n.*4994A>C|||||3558|,G|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay||n.*3803A>C|||||3558|,G|non_coding_exon_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000470922|retained_intron|4/8|n.613A>C||||||,G|non_coding_exon_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000461267|processed_transcript|4/6|n.617A>C|||||| 22 19165216 . G A . . ANN=A|sequence_feature|LOW|SLC25A1|ENSG00000100075|repeat:Solcar_2|ENST00000215882|protein_coding|6/9|c.441+24C>T||||||,A|sequence_feature|LOW|SLC25A1|ENSG00000100075|repeat:Solcar_2|ENST00000215882|protein_coding|5/9|c.441+24C>T||||||,A|sequence_feature|LOW|SLC25A1|ENSG00000100075|repeat:Solcar_2|ENST00000215882|protein_coding|4/9|c.441+24C>T||||||,A|downstream_gene_variant|MODIFIER|AC004463.6|ENSG00000260924|transcript|ENST00000565162|antisense||n.*1445G>A|||||4864|,A|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding||c.*4996C>T|||||1770|,A|downstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000468824|processed_transcript||n.*307C>T|||||287|,A|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding||c.*4796C>T|||||1770|,A|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000412649|retained_intron||n.*4635C>T|||||1773|,A|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript||n.*1714C>T|||||1773|,A|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding||c.*4998C>T|||||1773|,A|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript||n.*1695C>T|||||2072|,A|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron||n.*4994C>T|||||3030|,A|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay||n.*3803C>T|||||3030|,A|intron_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000215882|protein_coding|4/8|c.441+24C>T||||||,A|intron_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000451283|protein_coding|4/8|c.132+24C>T||||||,A|intron_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000470922|retained_intron|3/7|n.583+24C>T||||||,A|intron_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000461267|processed_transcript|3/5|n.587+24C>T|||||| 22 19165264 . G C . . ANN=C|synonymous_variant|LOW|SLC25A1|ENSG00000100075|transcript|ENST00000215882|protein_coding|4/9|c.417C>G|p.Val139Val|574/1641|417/936|139/311||,C|synonymous_variant|LOW|SLC25A1|ENSG00000100075|transcript|ENST00000451283|protein_coding|4/9|c.108C>G|p.Val36Val|458/1514|108/627|36/208||,C|sequence_feature|LOW|SLC25A1|ENSG00000100075|repeat:Solcar_2|ENST00000215882|protein_coding|6/9|c.417C>G||||||,C|sequence_feature|LOW|SLC25A1|ENSG00000100075|repeat:Solcar_2|ENST00000215882|protein_coding|5/9|c.417C>G||||||,C|sequence_feature|LOW|SLC25A1|ENSG00000100075|repeat:Solcar_2|ENST00000215882|protein_coding|4/9|c.417C>G||||||,C|sequence_feature|LOW|SLC25A1|ENSG00000100075|transmembrane_region:Transmembrane_region|ENST00000215882|protein_coding|4/9|c.417C>G||||||,C|downstream_gene_variant|MODIFIER|AC004463.6|ENSG00000260924|transcript|ENST00000565162|antisense||n.*1445G>C|||||4912|,C|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding||c.*4996C>G|||||1722|,C|downstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000468824|processed_transcript||n.*307C>G|||||239|,C|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding||c.*4796C>G|||||1722|,C|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000412649|retained_intron||n.*4635C>G|||||1725|,C|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript||n.*1714C>G|||||1725|,C|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding||c.*4998C>G|||||1725|,C|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript||n.*1695C>G|||||2024|,C|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron||n.*4994C>G|||||2982|,C|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay||n.*3803C>G|||||2982|,C|non_coding_exon_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000470922|retained_intron|3/8|n.559C>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000461267|processed_transcript|3/6|n.563C>G|||||| 22 19165478 . A G . . ANN=G|synonymous_variant|LOW|SLC25A1|ENSG00000100075|transcript|ENST00000215882|protein_coding|3/9|c.279T>C|p.Gly93Gly|436/1641|279/936|93/311||,G|sequence_feature|LOW|SLC25A1|ENSG00000100075|repeat:Solcar_1|ENST00000215882|protein_coding|1/9|c.279T>C||||||,G|sequence_feature|LOW|SLC25A1|ENSG00000100075|repeat:Solcar_1|ENST00000215882|protein_coding|2/9|c.279T>C||||||,G|sequence_feature|LOW|SLC25A1|ENSG00000100075|repeat:Solcar_1|ENST00000215882|protein_coding|3/9|c.279T>C||||||,G|sequence_feature|LOW|SLC25A1|ENSG00000100075|repeat:Solcar_1|ENST00000215882|protein_coding|4/9|c.279T>C||||||,G|sequence_feature|LOW|SLC25A1|ENSG00000100075|transmembrane_region:Transmembrane_region|ENST00000215882|protein_coding|3/9|c.279T>C||||||,G|sequence_feature|LOW|SLC25A1|ENSG00000100075|transmembrane_region:Transmembrane_region|ENST00000215882|protein_coding|4/9|c.279T>C||||||,G|5_prime_UTR_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000451283|protein_coding|3/9|c.-31T>C|||||107|,G|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding||c.*4996T>C|||||1508|,G|downstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000468824|processed_transcript||n.*307T>C|||||25|,G|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding||c.*4796T>C|||||1508|,G|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000412649|retained_intron||n.*4635T>C|||||1511|,G|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript||n.*1714T>C|||||1511|,G|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding||c.*4998T>C|||||1511|,G|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript||n.*1695T>C|||||1810|,G|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron||n.*4994T>C|||||2768|,G|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay||n.*3803T>C|||||2768|,G|non_coding_exon_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000470922|retained_intron|3/8|n.345T>C||||||,G|non_coding_exon_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000461267|processed_transcript|2/6|n.425T>C|||||| 22 19165629 . G T . . ANN=T|sequence_feature|LOW|SLC25A1|ENSG00000100075|repeat:Solcar_1|ENST00000215882|protein_coding|1/9|c.202+17C>A||||||,T|sequence_feature|LOW|SLC25A1|ENSG00000100075|repeat:Solcar_1|ENST00000215882|protein_coding|2/9|c.202+17C>A||||||,T|sequence_feature|LOW|SLC25A1|ENSG00000100075|repeat:Solcar_1|ENST00000215882|protein_coding|3/9|c.202+17C>A||||||,T|sequence_feature|LOW|SLC25A1|ENSG00000100075|repeat:Solcar_1|ENST00000215882|protein_coding|4/9|c.202+17C>A||||||,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding||c.*4996C>A|||||1357|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding||c.*4796C>A|||||1357|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000412649|retained_intron||n.*4635C>A|||||1360|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript||n.*1714C>A|||||1360|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding||c.*4998C>A|||||1360|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript||n.*1695C>A|||||1659|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron||n.*4994C>A|||||2617|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay||n.*3803C>A|||||2617|,T|intron_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000215882|protein_coding|2/8|c.202+17C>A||||||,T|intron_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000451283|protein_coding|2/8|c.-108+17C>A||||||,T|intron_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000470922|retained_intron|2/7|n.268+17C>A||||||,T|intron_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000461267|processed_transcript|1/5|n.348+17C>A||||||,T|non_coding_exon_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000468824|processed_transcript|2/2|n.181C>A|||||| 22 19167741 . C T . . ANN=T|synonymous_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|32/33|c.4914G>A|p.Gly1638Gly|4987/5513|4914/4923|1638/1640||,T|synonymous_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|31/32|c.4743G>A|p.Gly1581Gly|4787/5313|4743/4752|1581/1583||,T|synonymous_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|33/34|c.4914G>A|p.Gly1638Gly|4989/5512|4914/4923|1638/1640||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|30/32|c.4743G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|29/32|c.4743G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|31/32|c.4743G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|32/34|c.4914G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|31/34|c.4914G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|33/34|c.4914G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.4914G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.4914G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.4914G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.4914G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.4914G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.4914G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.4914G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.4914G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.4914G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.4914G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.4914G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.4914G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.4914G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.4914G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.4914G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.4914G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.4914G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.4914G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.4914G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.4914G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.4914G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.4914G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.4914G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.4914G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.4914G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.4914G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.4914G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.4914G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.4914G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.4914G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.4914G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.4914G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.4914G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.4914G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.4914G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.4914G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.4914G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.4914G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.4914G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.4914G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.4914G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.4914G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.4914G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.4914G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.4914G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.4914G>A||||||,T|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000215882|protein_coding||c.-158G>A|||||1398|,T|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000451283|protein_coding||c.-351G>A|||||1707|,T|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000470922|retained_intron||n.-1G>A|||||1489|,T|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000461267|processed_transcript||n.-1G>A|||||1748|,T|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000468824|processed_transcript||n.-1G>A|||||1593|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron||n.*4994G>A|||||505|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay||n.*3803G>A|||||505|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000538828|nonsense_mediated_decay||n.*204G>A|||||3248|,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000412649|retained_intron|2/3|n.4112G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript|9/10|n.1191G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript|11/12|n.1471G>A|||||| 22 19167798 . G A . . ANN=A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|30/32|c.4733-47C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|29/32|c.4733-47C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|31/32|c.4733-47C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|32/34|c.4904-47C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|31/34|c.4904-47C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|33/34|c.4904-47C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.4904-47C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.4904-47C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.4904-47C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.4904-47C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.4904-47C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.4904-47C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.4904-47C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.4904-47C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.4904-47C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.4904-47C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.4904-47C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.4904-47C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.4904-47C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.4904-47C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.4904-47C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.4904-47C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.4904-47C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.4904-47C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.4904-47C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.4904-47C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.4904-47C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.4904-47C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.4904-47C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.4904-47C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.4904-47C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.4904-47C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.4904-47C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.4904-47C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.4904-47C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.4904-47C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_o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22 19167801 . C T . . ANN=T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|30/32|c.4733-50G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|29/32|c.4733-50G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|31/32|c.4733-50G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|32/34|c.4904-50G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|31/34|c.4904-50G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|33/34|c.4904-50G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.4904-50G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.4904-50G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.4904-50G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.4904-50G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.4904-50G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.4904-50G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.4904-50G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.4904-50G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.4904-50G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.4904-50G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.4904-50G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.4904-50G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.4904-50G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.4904-50G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.4904-50G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.4904-50G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.4904-50G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.4904-50G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.4904-50G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.4904-50G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.4904-50G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.4904-50G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.4904-50G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.4904-50G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.4904-50G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.4904-50G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.4904-50G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.4904-50G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.4904-50G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.4904-50G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.4904-50G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.4904-50G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.4904-50G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.4904-50G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.4904-50G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.4904-50G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.4904-50G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.4904-50G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.4904-50G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.4904-50G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.4904-50G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.4904-50G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.4904-50G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.4904-50G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.4904-50G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.4904-50G>A||||||,T|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000215882|protein_coding||c.-158G>A|||||1458|,T|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000451283|protein_coding||c.-351G>A|||||1767|,T|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000470922|retained_intron||n.-1G>A|||||1549|,T|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000461267|processed_transcript||n.-1G>A|||||1808|,T|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000468824|processed_transcript||n.-1G>A|||||1653|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron||n.*4994G>A|||||445|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay||n.*3803G>A|||||445|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000538828|nonsense_mediated_decay||n.*204G>A|||||3188|,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|31/32|c.4904-50G>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|30/31|c.4733-50G>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000412649|retained_intron|1/2|n.4102-50G>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript|8/9|n.1181-50G>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|32/33|c.4904-50G>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript|10/11|n.1461-50G>A|||||| 22 19168288 . C T . . ANN=T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|31/33|c.4859G>A|p.Arg1620His|4932/5513|4859/4923|1620/1640||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|30/32|c.4688G>A|p.Arg1563His|4732/5313|4688/4752|1563/1583||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|32/34|c.4859G>A|p.Arg1620His|4934/5512|4859/4923|1620/1640||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|30/32|c.4688G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|29/32|c.4688G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|31/32|c.4688G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|32/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|31/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|33/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.4859G>A||||||,T|3_prime_UTR_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|31/31|n.*1014G>A|||||18985|,T|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000215882|protein_coding||c.-158G>A|||||1945|,T|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000451283|protein_coding||c.-351G>A|||||2254|,T|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000470922|retained_intron||n.-1G>A|||||2036|,T|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000461267|processed_transcript||n.-1G>A|||||2295|,T|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000468824|processed_transcript||n.-1G>A|||||2140|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000538828|nonsense_mediated_decay||n.*204G>A|||||2701|,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000412649|retained_intron|1/3|n.4057G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript|8/10|n.1136G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript|10/12|n.1416G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|30/30|n.4952G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|31/31|n.*1014G>A|||||| 22 19168289 . G A . . ANN=A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|31/33|c.4858C>T|p.Arg1620Cys|4931/5513|4858/4923|1620/1640||,A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|30/32|c.4687C>T|p.Arg1563Cys|4731/5313|4687/4752|1563/1583||,A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|32/34|c.4858C>T|p.Arg1620Cys|4933/5512|4858/4923|1620/1640||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|30/32|c.4687C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|29/32|c.4687C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|31/32|c.4687C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|32/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|31/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|33/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.4858C>T||||||,A|3_prime_UTR_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|31/31|n.*1013C>T|||||18984|,A|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000215882|protein_coding||c.-158C>T|||||1946|,A|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000451283|protein_coding||c.-351C>T|||||2255|,A|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000470922|retained_intron||n.-1C>T|||||2037|,A|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000461267|processed_transcript||n.-1C>T|||||2296|,A|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000468824|processed_transcript||n.-1C>T|||||2141|,A|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000538828|nonsense_mediated_decay||n.*204C>T|||||2700|,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000412649|retained_intron|1/3|n.4056C>T||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript|8/10|n.1135C>T||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript|10/12|n.1415C>T||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|30/30|n.4951C>T||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|31/31|n.*1013C>T|||||| 22 19168347 . C A . . ANN=A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|30/32|c.4657-28G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|29/32|c.4657-28G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|31/32|c.4657-28G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|32/34|c.4828-28G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|31/34|c.4828-28G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|33/34|c.4828-28G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.4828-28G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.4828-28G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.4828-28G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.4828-28G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.4828-28G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.4828-28G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.4828-28G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.4828-28G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.4828-28G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.4828-28G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.4828-28G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.4828-28G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.4828-28G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.4828-28G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.4828-28G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.4828-28G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.4828-28G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.4828-28G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.4828-28G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.4828-28G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.4828-28G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.4828-28G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.4828-28G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.4828-28G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.4828-28G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.4828-28G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.4828-28G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.4828-28G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.4828-28G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.4828-28G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.4828-28G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.4828-28G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.4828-28G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.4828-28G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.4828-28G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.4828-28G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.4828-28G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.4828-28G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.4828-28G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.4828-28G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.4828-28G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.4828-28G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.4828-28G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.4828-28G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.4828-28G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.4828-28G>T||||||,A|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000215882|protein_coding||c.-158G>T|||||2004|,A|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000451283|protein_coding||c.-351G>T|||||2313|,A|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000470922|retained_intron||n.-1G>T|||||2095|,A|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000461267|processed_transcript||n.-1G>T|||||2354|,A|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000468824|processed_transcript||n.-1G>T|||||2199|,A|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000538828|nonsense_mediated_decay||n.*204G>T|||||2642|,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|30/32|c.4828-28G>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|29/31|c.4657-28G>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript|7/9|n.1105-28G>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|31/33|c.4828-28G>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript|9/11|n.1385-28G>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|29/29|n.4921-28G>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|30/30|n.*983-28G>T||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000412649|retained_intron|1/3|n.3998G>T|||||| 22 19168355 . A C . . ANN=C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|30/32|c.4657-36T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|29/32|c.4657-36T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|31/32|c.4657-36T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|32/34|c.4828-36T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|31/34|c.4828-36T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|33/34|c.4828-36T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.4828-36T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.4828-36T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.4828-36T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.4828-36T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.4828-36T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.4828-36T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.4828-36T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.4828-36T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.4828-36T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.4828-36T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.4828-36T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.4828-36T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.4828-36T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.4828-36T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.4828-36T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.4828-36T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.4828-36T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.4828-36T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.4828-36T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.4828-36T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.4828-36T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.4828-36T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.4828-36T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.4828-36T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.4828-36T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.4828-36T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.4828-36T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.4828-36T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.4828-36T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.4828-36T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_o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22 19170888 . C T . . ANN=T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|30/32|c.4656+15G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|29/32|c.4656+15G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|31/32|c.4656+15G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|32/34|c.4827+15G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|31/34|c.4827+15G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|33/34|c.4827+15G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.4827+15G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.4827+15G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.4827+15G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.4827+15G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.4827+15G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.4827+15G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.4827+15G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.4827+15G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.4827+15G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.4827+15G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.4827+15G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.4827+15G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.4827+15G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.4827+15G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.4827+15G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.4827+15G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.4827+15G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.4827+15G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.4827+15G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.4827+15G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.4827+15G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.4827+15G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.4827+15G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.4827+15G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.4827+15G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.4827+15G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.4827+15G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.4827+15G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.4827+15G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.4827+15G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.4827+15G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.4827+15G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.4827+15G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.4827+15G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.4827+15G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.4827+15G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.4827+15G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.4827+15G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.4827+15G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.4827+15G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.4827+15G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.4827+15G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.4827+15G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.4827+15G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.4827+15G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.4827+15G>A||||||,T|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000215882|protein_coding||c.-158G>A|||||4545|,T|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000451283|protein_coding||c.-351G>A|||||4854|,T|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000470922|retained_intron||n.-1G>A|||||4636|,T|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000461267|processed_transcript||n.-1G>A|||||4895|,T|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000468824|processed_transcript||n.-1G>A|||||4740|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000538828|nonsense_mediated_decay||n.*204G>A|||||101|,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|30/32|c.4827+15G>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|29/31|c.4656+15G>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript|7/9|n.1104+15G>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|31/33|c.4827+15G>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript|9/11|n.1384+15G>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|29/29|n.4920+15G>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|30/30|n.*982+15G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000412649|retained_intron|1/3|n.1457G>A|||||| 22 19170889 . G A . . ANN=A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|30/32|c.4656+14C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|29/32|c.4656+14C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|31/32|c.4656+14C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|32/34|c.4827+14C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|31/34|c.4827+14C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|33/34|c.4827+14C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.4827+14C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.4827+14C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.4827+14C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.4827+14C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.4827+14C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.4827+14C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.4827+14C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.4827+14C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.4827+14C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.4827+14C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.4827+14C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.4827+14C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.4827+14C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.4827+14C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.4827+14C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.4827+14C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.4827+14C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.4827+14C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.4827+14C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.4827+14C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.4827+14C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.4827+14C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.4827+14C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.4827+14C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.4827+14C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.4827+14C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.4827+14C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.4827+14C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.4827+14C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.4827+14C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.4827+14C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.4827+14C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.4827+14C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.4827+14C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.4827+14C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.4827+14C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.4827+14C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.4827+14C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.4827+14C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.4827+14C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.4827+14C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.4827+14C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.4827+14C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.4827+14C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.4827+14C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.4827+14C>T||||||,A|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000215882|protein_coding||c.-158C>T|||||4546|,A|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000451283|protein_coding||c.-351C>T|||||4855|,A|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000470922|retained_intron||n.-1C>T|||||4637|,A|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000461267|processed_transcript||n.-1C>T|||||4896|,A|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000468824|processed_transcript||n.-1C>T|||||4741|,A|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000538828|nonsense_mediated_decay||n.*204C>T|||||100|,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|30/32|c.4827+14C>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|29/31|c.4656+14C>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript|7/9|n.1104+14C>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|31/33|c.4827+14C>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript|9/11|n.1384+14C>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|29/29|n.4920+14C>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|30/30|n.*982+14C>T||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000412649|retained_intron|1/3|n.1456C>T|||||| 22 19170956 . C A,G,T . . ANN=A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|30/33|c.4774G>T|p.Val1592Leu|4847/5513|4774/4923|1592/1640||,G|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|30/33|c.4774G>C|p.Val1592Leu|4847/5513|4774/4923|1592/1640||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|30/33|c.4774G>A|p.Val1592Met|4847/5513|4774/4923|1592/1640||,A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|29/32|c.4603G>T|p.Val1535Leu|4647/5313|4603/4752|1535/1583||,G|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|29/32|c.4603G>C|p.Val1535Leu|4647/5313|4603/4752|1535/1583||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|29/32|c.4603G>A|p.Val1535Met|4647/5313|4603/4752|1535/1583||,A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|31/34|c.4774G>T|p.Val1592Leu|4849/5512|4774/4923|1592/1640||,G|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|31/34|c.4774G>C|p.Val1592Leu|4849/5512|4774/4923|1592/1640||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|31/34|c.4774G>A|p.Val1592Met|4849/5512|4774/4923|1592/1640||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|30/32|c.4603G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|29/32|c.4603G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|31/32|c.4603G>T||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|30/32|c.4603G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|29/32|c.4603G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|31/32|c.4603G>C||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|30/32|c.4603G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|29/32|c.4603G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|31/32|c.4603G>A||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|32/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|31/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|33/34|c.4774G>T||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|32/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|31/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|33/34|c.4774G>C||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|32/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|31/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|33/34|c.4774G>A||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.4774G>T||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.4774G>C||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.4774G>A||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.4774G>T||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.4774G>C||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.4774G>A||||||,A|3_prime_UTR_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|30/31|n.*929G>T|||||16317|,G|3_prime_UTR_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|30/31|n.*929G>C|||||16317|,T|3_prime_UTR_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|30/31|n.*929G>A|||||16317|,A|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000215882|protein_coding||c.-158G>T|||||4613|,G|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000215882|protein_coding||c.-158G>C|||||4613|,T|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000215882|protein_coding||c.-158G>A|||||4613|,A|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000451283|protein_coding||c.-351G>T|||||4922|,G|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000451283|protein_coding||c.-351G>C|||||4922|,T|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000451283|protein_coding||c.-351G>A|||||4922|,A|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000470922|retained_intron||n.-1G>T|||||4704|,G|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000470922|retained_intron||n.-1G>C|||||4704|,T|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000470922|retained_intron||n.-1G>A|||||4704|,A|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000461267|processed_transcript||n.-1G>T|||||4963|,G|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000461267|processed_transcript||n.-1G>C|||||4963|,T|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000461267|processed_transcript||n.-1G>A|||||4963|,A|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000468824|processed_transcript||n.-1G>T|||||4808|,G|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000468824|processed_transcript||n.-1G>C|||||4808|,T|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000468824|processed_transcript||n.-1G>A|||||4808|,A|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000538828|nonsense_mediated_decay||n.*204G>T|||||33|,G|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000538828|nonsense_mediated_decay||n.*204G>C|||||33|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000538828|nonsense_mediated_decay||n.*204G>A|||||33|,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000412649|retained_intron|1/3|n.1389G>T||||||,G|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000412649|retained_intron|1/3|n.1389G>C||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000412649|retained_intron|1/3|n.1389G>A||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript|7/10|n.1051G>T||||||,G|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript|7/10|n.1051G>C||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript|7/10|n.1051G>A||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript|9/12|n.1331G>T||||||,G|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript|9/12|n.1331G>C||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript|9/12|n.1331G>A||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|29/30|n.4867G>T||||||,G|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|29/30|n.4867G>C||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|29/30|n.4867G>A||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|30/31|n.*929G>T||||||,G|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|30/31|n.*929G>C||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|30/31|n.*929G>A|||||| 22 19170999 . AAGCAGGTCAT A . . ANN=|frameshift_variant|HIGH|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|30/33|c.4721_4730delATGACCTGCT|p.Tyr1574fs|4803/5513|4721/4923|1574/1640||,|frameshift_variant|HIGH|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|29/32|c.4550_4559delATGACCTGCT|p.Tyr1517fs|4603/5313|4550/4752|1517/1583||,|frameshift_variant|HIGH|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|31/34|c.4721_4730delATGACCTGCT|p.Tyr1574fs|4805/5512|4721/4923|1574/1640||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|30/32|c.4550_4559delATGACCTGCT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|29/32|c.4550_4559delATGACCTGCT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|31/32|c.4550_4559delATGACCTGCT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|32/34|c.4721_4730delATGACCTGCT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|31/34|c.4721_4730delATGACCTGCT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|33/34|c.4721_4730delATGACCTGCT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.4721_4730delATGACCTGCT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.4721_4730delATGACCTGCT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.4721_4730delATGACCTGCT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.4721_4730delATGACCTGCT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.4721_4730delATGACCTGCT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.4721_4730delATGACCTGCT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.4721_4730delATGACCTGCT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.4721_4730delATGACCTGCT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.4721_4730delATGACCTGCT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.4721_4730delATGACCTGCT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.4721_4730delATGACCTGCT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.4721_4730delATGACCTGCT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.4721_4730delATGACCTGCT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.4721_4730delATGACCTGCT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.4721_4730delATGACCTGCT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.4721_4730delATGACCTGCT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.4721_4730delATGACCTGCT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.4721_4730delATGACCTGCT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.4721_4730delATGACCTGCT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.4721_4730delATGACCTGCT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.4721_4730delATGACCTGCT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.4721_4730delATGACCTGCT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.4721_4730delATGACCTGCT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.4721_4730delATGACCTGCT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.4721_4730delATGACCTGCT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.4721_4730delATGACCTGCT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.4721_4730delATGACCTGCT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.4721_4730delATGACCTGCT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.4721_4730delATGACCTGCT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.4721_4730delATGACCTGCT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.4721_4730delATGACCTGCT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.4721_4730delATGACCTGCT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.4721_4730delATGACCTGCT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.4721_4730delATGACCTGCT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.4721_4730delATGACCTGCT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.4721_4730delATGACCTGCT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.4721_4730delATGACCTGCT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.4721_4730delATGACCTGCT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.4721_4730delATGACCTGCT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.4721_4730delATGACCTGCT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.4721_4730delATGACCTGCT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.4721_4730delATGACCTGCT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.4721_4730delATGACCTGCT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.4721_4730delATGACCTGCT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.4721_4730delATGACCTGCT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.4721_4730delATGACCTGCT||||||,|3_prime_UTR_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|30/31|n.*876_*885delATGACCTGCT|||||16264|,|3_prime_UTR_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000538828|nonsense_mediated_decay|3/3|n.*224_*233delATGACCTGCT|||||1008|,|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000215882|protein_coding||c.-158_-158delATGACCTGCT|||||4657|,|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000451283|protein_coding||c.-351_-351delATGACCTGCT|||||4966|,|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000470922|retained_intron||n.-1_-1delATGACCTGCT|||||4748|,|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000468824|processed_transcript||n.-1_-1delATGACCTGCT|||||4852|,|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000412649|retained_intron|1/3|n.1336_1345delATGACCTGCT||||||,|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript|7/10|n.998_1007delATGACCTGCT||||||,|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript|9/12|n.1278_1287delATGACCTGCT||||||,|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|29/30|n.4814_4823delATGACCTGCT||||||,|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|30/31|n.*876_*885delATGACCTGCT||||||,|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000538828|nonsense_mediated_decay|3/3|n.*224_*233delATGACCTGCT|||||| 22 19171053 . C G . . ANN=G|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|30/33|c.4677G>C|p.Glu1559Asp|4750/5513|4677/4923|1559/1640||,G|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|29/32|c.4506G>C|p.Glu1502Asp|4550/5313|4506/4752|1502/1583||,G|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|31/34|c.4677G>C|p.Glu1559Asp|4752/5512|4677/4923|1559/1640||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|30/32|c.4506G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|29/32|c.4506G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|31/32|c.4506G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|32/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|31/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|33/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_7|ENST00000427926|protein_coding|29/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_7|ENST00000427926|protein_coding|31/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_7|ENST00000427926|protein_coding|30/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_7|ENST00000427926|protein_coding|28/34|c.4677G>C||||||,G|3_prime_UTR_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|30/31|n.*832G>C|||||16220|,G|3_prime_UTR_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000538828|nonsense_mediated_decay|3/3|n.*180G>C|||||964|,G|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000215882|protein_coding||c.-158G>C|||||4710|,G|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000470922|retained_intron||n.-1G>C|||||4801|,G|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000468824|processed_transcript||n.-1G>C|||||4905|,G|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000412649|retained_intron|1/3|n.1292G>C||||||,G|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript|7/10|n.954G>C||||||,G|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript|9/12|n.1234G>C||||||,G|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|29/30|n.4770G>C||||||,G|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|30/31|n.*832G>C||||||,G|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000538828|nonsense_mediated_decay|3/3|n.*180G>C|||||| 22 19171074 . C CT . . ANN=T|frameshift_variant|HIGH|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|30/33|c.4655dupA|p.Leu1553fs|4728/5513|4655/4923|1552/1640||,T|frameshift_variant|HIGH|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|29/32|c.4484dupA|p.Leu1496fs|4528/5313|4484/4752|1495/1583||,T|frameshift_variant|HIGH|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|31/34|c.4655dupA|p.Leu1553fs|4730/5512|4655/4923|1552/1640||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|30/32|c.4484dupA||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|29/32|c.4484dupA||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|31/32|c.4484dupA||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|32/34|c.4655dupA||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|31/34|c.4655dupA||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|33/34|c.4655dupA||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.4655dupA||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.4655dupA||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.4655dupA||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.4655dupA||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.4655dupA||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.4655dupA||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.4655dupA||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.4655dupA||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.4655dupA||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.4655dupA||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.4655dupA||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.4655dupA||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.4655dupA||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.4655dupA||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.4655dupA||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.4655dupA||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.4655dupA||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.4655dupA||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.4655dupA||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.4655dupA||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.4655dupA||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.4655dupA||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.4655dupA||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.4655dupA||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.4655dupA||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.4655dupA||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.4655dupA||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.4655dupA||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.4655dupA||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.4655dupA||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.4655dupA||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.4655dupA||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.4655dupA||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.4655dupA||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.4655dupA||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.4655dupA||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.4655dupA||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.4655dupA||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.4655dupA||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.4655dupA||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.4655dupA||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.4655dupA||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.4655dupA||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.4655dupA||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.4655dupA||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.4655dupA||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_7|ENST00000427926|protein_coding|29/34|c.4655dupA||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_7|ENST00000427926|protein_coding|31/34|c.4655dupA||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_7|ENST00000427926|protein_coding|30/34|c.4655dupA||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_7|ENST00000427926|protein_coding|28/34|c.4655dupA||||||,T|3_prime_UTR_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|30/31|n.*810dupA|||||16198|,T|3_prime_UTR_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000538828|nonsense_mediated_decay|3/3|n.*158dupA|||||942|,T|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000215882|protein_coding||c.-158dupA|||||4732|,T|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000470922|retained_intron||n.-1dupA|||||4823|,T|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000468824|processed_transcript||n.-1dupA|||||4927|,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000412649|retained_intron|1/3|n.1270dupA||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript|7/10|n.932dupA||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript|9/12|n.1212dupA||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|29/30|n.4748dupA||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|30/31|n.*810dupA||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000538828|nonsense_mediated_decay|3/3|n.*158dupA||||||;LOF=(CLTCL1|ENSG00000070371|12|0.25) 22 19171083 . C T . . ANN=T|synonymous_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|30/33|c.4647G>A|p.Leu1549Leu|4720/5513|4647/4923|1549/1640||,T|synonymous_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|29/32|c.4476G>A|p.Leu1492Leu|4520/5313|4476/4752|1492/1583||,T|synonymous_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|31/34|c.4647G>A|p.Leu1549Leu|4722/5512|4647/4923|1549/1640||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.4647G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.4647G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.4647G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.4647G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.4647G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.4647G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.4647G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.4647G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.4647G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.4647G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.4647G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.4647G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.4647G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.4647G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.4647G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.4647G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.4647G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.4647G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.4647G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.4647G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.4647G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.4647G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.4647G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.4647G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.4647G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.4647G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.4647G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.4647G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.4647G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.4647G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.4647G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.4647G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.4647G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.4647G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.4647G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.4647G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.4647G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.4647G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.4647G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.4647G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.4647G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.4647G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.4647G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.4647G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.4647G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.4647G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_7|ENST00000427926|protein_coding|29/34|c.4647G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_7|ENST00000427926|protein_coding|31/34|c.4647G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_7|ENST00000427926|protein_coding|30/34|c.4647G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_7|ENST00000427926|protein_coding|28/34|c.4647G>A||||||,T|3_prime_UTR_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|30/31|n.*802G>A|||||16190|,T|3_prime_UTR_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000538828|nonsense_mediated_decay|3/3|n.*150G>A|||||934|,T|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000215882|protein_coding||c.-158G>A|||||4740|,T|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000470922|retained_intron||n.-1G>A|||||4831|,T|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000468824|processed_transcript||n.-1G>A|||||4935|,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000412649|retained_intron|1/3|n.1262G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript|7/10|n.924G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript|9/12|n.1204G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|29/30|n.4740G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|30/31|n.*802G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000538828|nonsense_mediated_decay|3/3|n.*150G>A|||||| 22 19175095 . A C . . ANN=C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|29/33|c.4580T>G|p.Leu1527Arg|4653/5513|4580/4923|1527/1640||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|30/34|c.4580T>G|p.Leu1527Arg|4655/5512|4580/4923|1527/1640||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_7|ENST00000427926|protein_coding|29/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_7|ENST00000427926|protein_coding|31/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_7|ENST00000427926|protein_coding|30/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_7|ENST00000427926|protein_coding|28/34|c.4580T>G||||||,C|3_prime_UTR_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|29/31|n.*735T>G|||||12178|,C|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000412649|retained_intron||n.-1T>G|||||2751|,C|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|28/31|c.4434+398T>G||||||,C|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript|6/9|n.882+3721T>G||||||,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript|8/12|n.1137T>G||||||,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|28/30|n.4673T>G||||||,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|29/31|n.*735T>G||||||,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000538828|nonsense_mediated_decay|1/3|n.146T>G|||||| 22 19175133 . C A . . ANN=A|synonymous_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|29/33|c.4542G>T|p.Leu1514Leu|4615/5513|4542/4923|1514/1640||,A|synonymous_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|30/34|c.4542G>T|p.Leu1514Leu|4617/5512|4542/4923|1514/1640||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.4542G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.4542G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.4542G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.4542G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.4542G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.4542G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.4542G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.4542G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.4542G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.4542G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.4542G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.4542G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.4542G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.4542G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.4542G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.4542G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.4542G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.4542G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.4542G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.4542G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.4542G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.4542G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.4542G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.4542G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.4542G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.4542G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.4542G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.4542G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.4542G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.4542G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.4542G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.4542G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.4542G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.4542G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.4542G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.4542G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.4542G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.4542G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.4542G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.4542G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.4542G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.4542G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.4542G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.4542G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.4542G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.4542G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_7|ENST00000427926|protein_coding|29/34|c.4542G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_7|ENST00000427926|protein_coding|31/34|c.4542G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_7|ENST00000427926|protein_coding|30/34|c.4542G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_7|ENST00000427926|protein_coding|28/34|c.4542G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|29/34|c.4542G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|30/34|c.4542G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|28/34|c.4542G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|26/34|c.4542G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|24/34|c.4542G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|25/34|c.4542G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|27/34|c.4542G>T||||||,A|3_prime_UTR_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|29/31|n.*697G>T|||||12140|,A|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000412649|retained_intron||n.-1G>T|||||2789|,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|28/31|c.4434+360G>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript|6/9|n.882+3683G>T||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript|8/12|n.1099G>T||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|28/30|n.4635G>T||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|29/31|n.*697G>T||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000538828|nonsense_mediated_decay|1/3|n.108G>T|||||| 22 19175265 . G C . . ANN=C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.4435-25C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.4435-25C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.4435-25C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.4435-25C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.4435-25C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.4435-25C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.4435-25C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.4435-25C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.4435-25C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.4435-25C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.4435-25C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.4435-25C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.4435-25C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.4435-25C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.4435-25C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.4435-25C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.4435-25C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.4435-25C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.4435-25C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.4435-25C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.4435-25C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.4435-25C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.4435-25C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.4435-25C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.4435-25C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.4435-25C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.4435-25C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.4435-25C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.4435-25C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.4435-25C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.4435-25C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.4435-25C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.4435-25C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.4435-25C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.4435-25C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.4435-25C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.4435-25C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.4435-25C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.4435-25C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.4435-25C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.4435-25C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.4435-25C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.4435-25C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.4435-25C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.4435-25C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.4435-25C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_7|ENST00000427926|protein_coding|29/34|c.4435-25C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_7|ENST00000427926|protein_coding|31/34|c.4435-25C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_7|ENST00000427926|protein_coding|30/34|c.4435-25C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_7|ENST00000427926|protein_coding|28/34|c.4435-25C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|29/34|c.4435-25C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|30/34|c.4435-25C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|28/34|c.4435-25C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|26/34|c.4435-25C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|24/34|c.4435-25C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|25/34|c.4435-25C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|27/34|c.4435-25C>G||||||,C|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000412649|retained_intron||n.-1C>G|||||2921|,C|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000538828|nonsense_mediated_decay||n.-1C>G|||||25|,C|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|28/32|c.4435-25C>G||||||,C|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|28/31|c.4434+228C>G||||||,C|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript|6/9|n.882+3551C>G||||||,C|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|29/33|c.4435-25C>G||||||,C|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript|7/11|n.992-25C>G||||||,C|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|27/29|n.4528-25C>G||||||,C|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|28/30|n.*590-25C>G|||||| 22 19175623 . G A . . ANN=A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.4324-20C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.4324-20C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.4324-20C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.4324-20C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.4324-20C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.4324-20C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.4324-20C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.4324-20C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.4324-20C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.4324-20C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.4324-20C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.4324-20C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.4324-20C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.4324-20C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.4324-20C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.4324-20C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.4324-20C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.4324-20C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.4324-20C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.4324-20C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.4324-20C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.4324-20C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.4324-20C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.4324-20C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.4324-20C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.4324-20C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.4324-20C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.4324-20C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.4324-20C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.4324-20C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.4324-20C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.4324-20C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.4324-20C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.4324-20C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.4324-20C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.4324-20C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.4324-20C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.4324-20C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.4324-20C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.4324-20C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.4324-20C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.4324-20C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.4324-20C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.4324-20C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.4324-20C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.4324-20C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_7|ENST00000427926|protein_coding|29/34|c.4324-20C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_7|ENST00000427926|protein_coding|31/34|c.4324-20C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_7|ENST00000427926|protein_coding|30/34|c.4324-20C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_7|ENST00000427926|protein_coding|28/34|c.4324-20C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|29/34|c.4324-20C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|30/34|c.4324-20C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|28/34|c.4324-20C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|26/34|c.4324-20C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|24/34|c.4324-20C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|25/34|c.4324-20C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|27/34|c.4324-20C>T||||||,A|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000412649|retained_intron||n.-1C>T|||||3279|,A|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000538828|nonsense_mediated_decay||n.-1C>T|||||383|,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|27/32|c.4324-20C>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|27/31|c.4324-20C>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript|6/9|n.882+3193C>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|28/33|c.4324-20C>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript|6/11|n.881-20C>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|26/29|n.4417-20C>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|27/30|n.*479-20C>T|||||| 22 19178854 . G A . . ANN=A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|27/33|c.4285C>T|p.Arg1429Trp|4358/5513|4285/4923|1429/1640||,A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|27/32|c.4285C>T|p.Arg1429Trp|4329/5313|4285/4752|1429/1583||,A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|28/34|c.4285C>T|p.Arg1429Trp|4360/5512|4285/4923|1429/1640||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_7|ENST00000427926|protein_coding|29/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_7|ENST00000427926|protein_coding|31/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_7|ENST00000427926|protein_coding|30/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_7|ENST00000427926|protein_coding|28/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|29/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|30/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|28/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|26/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|24/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|25/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|27/34|c.4285C>T||||||,A|3_prime_UTR_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|27/31|n.*440C>T|||||8419|,A|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000538828|nonsense_mediated_decay||n.-1C>T|||||3614|,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript|6/10|n.844C>T||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript|6/12|n.842C>T||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|26/30|n.4378C>T||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|27/31|n.*440C>T|||||| 22 19183727 . T TAGGG . . ANN=AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000353891|protein_coding|27/32|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000353891|protein_coding|25/32|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000353891|protein_coding|24/32|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000353891|protein_coding|26/32|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|29/34|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|30/34|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|28/34|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|26/34|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|24/34|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|25/34|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|27/34|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000427926|protein_coding|28/34|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000427926|protein_coding|26/34|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000427926|protein_coding|25/34|c.4191+46_4191+49dupCCCT||||||,AGGG|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000427926|protein_coding|27/34|c.4191+46_4191+49dupCCCT||||||,AGGG|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|26/32|c.4191+46_4191+49dupCCCT||||||,AGGG|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|26/31|c.4191+46_4191+49dupCCCT||||||,AGGG|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript|5/9|n.750+46_750+49dupCCCT||||||,AGGG|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|27/33|c.4191+46_4191+49dupCCCT||||||,AGGG|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript|5/11|n.748+46_748+49dupCCCT||||||,AGGG|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|25/29|n.4284+46_4284+49dupCCCT||||||,AGGG|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|26/30|n.*346+46_*346+49dupCCCT|||||| 22 19183787 . A G . . ANN=G|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|26/33|c.4181T>C|p.Ile1394Thr|4254/5513|4181/4923|1394/1640||,G|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|26/32|c.4181T>C|p.Ile1394Thr|4225/5313|4181/4752|1394/1583||,G|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|27/34|c.4181T>C|p.Ile1394Thr|4256/5512|4181/4923|1394/1640||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000353891|protein_coding|27/32|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000353891|protein_coding|25/32|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000353891|protein_coding|24/32|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000353891|protein_coding|26/32|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|29/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|30/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|28/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|26/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|24/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|25/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|27/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000427926|protein_coding|28/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000427926|protein_coding|26/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000427926|protein_coding|25/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000427926|protein_coding|27/34|c.4181T>C||||||,G|3_prime_UTR_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|26/31|n.*336T>C|||||3486|,G|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript|5/10|n.740T>C||||||,G|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript|5/12|n.738T>C||||||,G|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|25/30|n.4274T>C||||||,G|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|26/31|n.*336T>C|||||| 22 19183884 . C T . . ANN=T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|26/33|c.4084G>A|p.Val1362Met|4157/5513|4084/4923|1362/1640||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|26/32|c.4084G>A|p.Val1362Met|4128/5313|4084/4752|1362/1583||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|27/34|c.4084G>A|p.Val1362Met|4159/5512|4084/4923|1362/1640||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000353891|protein_coding|27/32|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000353891|protein_coding|25/32|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000353891|protein_coding|24/32|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000353891|protein_coding|26/32|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|29/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|30/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|28/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|26/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|24/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|25/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|27/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000427926|protein_coding|28/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000427926|protein_coding|26/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000427926|protein_coding|25/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000427926|protein_coding|27/34|c.4084G>A||||||,T|3_prime_UTR_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|26/31|n.*239G>A|||||3389|,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript|5/10|n.643G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript|5/12|n.641G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|25/30|n.4177G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|26/31|n.*239G>A|||||| 22 19183948 . G A . . ANN=A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000353891|protein_coding|27/32|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000353891|protein_coding|25/32|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000353891|protein_coding|24/32|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000353891|protein_coding|26/32|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|29/34|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|30/34|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|28/34|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|26/34|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|24/34|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|25/34|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|27/34|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000427926|protein_coding|28/34|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000427926|protein_coding|26/34|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000427926|protein_coding|25/34|c.4042-22C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000427926|protein_coding|27/34|c.4042-22C>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|25/32|c.4042-22C>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|25/31|c.4042-22C>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript|4/9|n.601-22C>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|26/33|c.4042-22C>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript|4/11|n.599-22C>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|25/30|n.*197-22C>T||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|25/30|n.4113C>T|||||| 22 19183995 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|25/32|c.4041+5C>T||||||,A|splice_region_variant&intron_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|25/31|c.4041+5C>T||||||,A|splice_region_variant&intron_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript|4/9|n.600+5C>T||||||,A|splice_region_variant&intron_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|26/33|c.4041+5C>T||||||,A|splice_region_variant&intron_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript|4/11|n.598+5C>T||||||,A|splice_region_variant&intron_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|25/30|n.*196+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000353891|protein_coding|27/32|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000353891|protein_coding|25/32|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000353891|protein_coding|24/32|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000353891|protein_coding|26/32|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|29/34|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|30/34|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|28/34|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|26/34|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|24/34|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|25/34|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|27/34|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000427926|protein_coding|28/34|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000427926|protein_coding|26/34|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000427926|protein_coding|25/34|c.4041+5C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000427926|protein_coding|27/34|c.4041+5C>T||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|25/30|n.4066C>T|||||| 22 19184095 . T C . . ANN=C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|25/33|c.3946A>G|p.Met1316Val|4019/5513|3946/4923|1316/1640||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|25/32|c.3946A>G|p.Met1316Val|3990/5313|3946/4752|1316/1583||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|26/34|c.3946A>G|p.Met1316Val|4021/5512|3946/4923|1316/1640||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000353891|protein_coding|27/32|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000353891|protein_coding|25/32|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000353891|protein_coding|24/32|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000353891|protein_coding|26/32|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|29/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|30/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|28/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|26/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|24/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|25/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|27/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000427926|protein_coding|28/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000427926|protein_coding|26/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000427926|protein_coding|25/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000427926|protein_coding|27/34|c.3946A>G||||||,C|3_prime_UTR_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|25/31|n.*101A>G|||||3178|,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript|4/10|n.505A>G||||||,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript|4/12|n.503A>G||||||,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|25/30|n.3966A>G||||||,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|25/31|n.*101A>G|||||| 22 19184126 . C T . . ANN=T|synonymous_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|25/33|c.3915G>A|p.Ala1305Ala|3988/5513|3915/4923|1305/1640||,T|synonymous_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|25/32|c.3915G>A|p.Ala1305Ala|3959/5313|3915/4752|1305/1583||,T|synonymous_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|26/34|c.3915G>A|p.Ala1305Ala|3990/5512|3915/4923|1305/1640||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000353891|protein_coding|27/32|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000353891|protein_coding|25/32|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000353891|protein_coding|24/32|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000353891|protein_coding|26/32|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|29/34|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|30/34|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|28/34|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|26/34|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|24/34|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|25/34|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|27/34|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000427926|protein_coding|28/34|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000427926|protein_coding|26/34|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000427926|protein_coding|25/34|c.3915G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000427926|protein_coding|27/34|c.3915G>A||||||,T|3_prime_UTR_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|25/31|n.*70G>A|||||3147|,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript|4/10|n.474G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript|4/12|n.472G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|25/30|n.3935G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|25/31|n.*70G>A|||||| 22 19184146 . G C . . ANN=C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|25/33|c.3895C>G|p.Leu1299Val|3968/5513|3895/4923|1299/1640||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|25/32|c.3895C>G|p.Leu1299Val|3939/5313|3895/4752|1299/1583||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|26/34|c.3895C>G|p.Leu1299Val|3970/5512|3895/4923|1299/1640||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000353891|protein_coding|27/32|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000353891|protein_coding|25/32|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000353891|protein_coding|24/32|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000353891|protein_coding|26/32|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|29/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|30/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|28/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|26/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|24/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|25/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|27/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000427926|protein_coding|28/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000427926|protein_coding|26/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000427926|protein_coding|25/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000427926|protein_coding|27/34|c.3895C>G||||||,C|3_prime_UTR_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|25/31|n.*50C>G|||||3127|,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript|4/10|n.454C>G||||||,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript|4/12|n.452C>G||||||,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|25/30|n.3915C>G||||||,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|25/31|n.*50C>G|||||| 22 19184171 . G C . . ANN=C|splice_region_variant&intron_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|24/32|c.3874-4C>G||||||,C|splice_region_variant&intron_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|24/31|c.3874-4C>G||||||,C|splice_region_variant&intron_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript|3/9|n.433-4C>G||||||,C|splice_region_variant&intron_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|25/33|c.3874-4C>G||||||,C|splice_region_variant&intron_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript|3/11|n.431-4C>G||||||,C|splice_region_variant&intron_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|24/29|n.3894-4C>G||||||,C|splice_region_variant&intron_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|24/30|n.*29-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000353891|protein_coding|27/32|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000353891|protein_coding|25/32|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000353891|protein_coding|24/32|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000353891|protein_coding|26/32|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|29/34|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|30/34|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|28/34|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|26/34|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|24/34|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|25/34|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|27/34|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000427926|protein_coding|28/34|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000427926|protein_coding|26/34|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000427926|protein_coding|25/34|c.3874-4C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000427926|protein_coding|27/34|c.3874-4C>G|||||| 22 19187375 . G A . . ANN=A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.3766-23C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.3766-23C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.3766-23C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.3766-23C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.3766-23C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.3766-23C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.3766-23C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.3766-23C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.3766-23C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.3766-23C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.3766-23C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.3766-23C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.3766-23C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.3766-23C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.3766-23C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.3766-23C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.3766-23C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.3766-23C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.3766-23C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.3766-23C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.3766-23C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.3766-23C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.3766-23C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.3766-23C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.3766-23C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.3766-23C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.3766-23C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.3766-23C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.3766-23C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.3766-23C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.3766-23C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.3766-23C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.3766-23C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.3766-23C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.3766-23C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.3766-23C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.3766-23C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.3766-23C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.3766-23C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.3766-23C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.3766-23C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.3766-23C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.3766-23C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.3766-23C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.3766-23C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.3766-23C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|29/34|c.3766-23C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|30/34|c.3766-23C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|28/34|c.3766-23C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|26/34|c.3766-23C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|24/34|c.3766-23C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|25/34|c.3766-23C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|27/34|c.3766-23C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|22/34|c.3766-23C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|21/34|c.3766-23C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|23/34|c.3766-23C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|24/34|c.3766-23C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|25/34|c.3766-23C>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|23/32|c.3766-23C>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|23/31|c.3766-23C>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript|2/9|n.325-23C>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|24/33|c.3766-23C>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript|2/11|n.323-23C>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|23/29|n.3786-23C>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|23/30|n.3704-23C>T|||||| 22 19188876 . G A . . ANN=A|synonymous_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|23/33|c.3729C>T|p.Asn1243Asn|3802/5513|3729/4923|1243/1640||,A|synonymous_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|23/32|c.3729C>T|p.Asn1243Asn|3773/5313|3729/4752|1243/1583||,A|synonymous_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|24/34|c.3729C>T|p.Asn1243Asn|3804/5512|3729/4923|1243/1640||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.3729C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.3729C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.3729C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.3729C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.3729C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.3729C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.3729C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.3729C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.3729C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.3729C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.3729C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.3729C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.3729C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.3729C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.3729C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.3729C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.3729C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.3729C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.3729C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.3729C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.3729C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.3729C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.3729C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.3729C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.3729C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.3729C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.3729C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.3729C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.3729C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.3729C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.3729C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.3729C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.3729C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.3729C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.3729C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.3729C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.3729C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.3729C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.3729C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.3729C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.3729C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.3729C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.3729C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.3729C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.3729C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.3729C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|29/34|c.3729C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|30/34|c.3729C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|28/34|c.3729C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|26/34|c.3729C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|24/34|c.3729C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|25/34|c.3729C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|27/34|c.3729C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|22/34|c.3729C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|21/34|c.3729C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|23/34|c.3729C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|24/34|c.3729C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|25/34|c.3729C>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|23/30|n.3703+26C>T||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript|2/10|n.288C>T||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript|2/12|n.286C>T||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|23/30|n.3749C>T|||||| 22 19188971 . C T . . ANN=T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|23/33|c.3634G>A|p.Glu1212Lys|3707/5513|3634/4923|1212/1640||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|23/32|c.3634G>A|p.Glu1212Lys|3678/5313|3634/4752|1212/1583||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|24/34|c.3634G>A|p.Glu1212Lys|3709/5512|3634/4923|1212/1640||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|22/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|21/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|23/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|24/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|25/34|c.3634G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript|2/10|n.193G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript|2/12|n.191G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|23/30|n.3654G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|23/31|n.3634G>A|||||| 22 19189001 . C CA . . ANN=A|frameshift_variant&splice_region_variant|HIGH|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|23/33|c.3603dupT|p.Gly1202fs|3676/5513|3603/4923|1201/1640||,A|frameshift_variant&splice_region_variant|HIGH|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|23/32|c.3603dupT|p.Gly1202fs|3647/5313|3603/4752|1201/1583||,A|splice_region_variant&non_coding_exon_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript|2/10|n.162dupT||||||,A|splice_region_variant&intron_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|23/33|c.3608-5dupT||||||,A|splice_region_variant&non_coding_exon_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript|2/12|n.160dupT||||||,A|splice_region_variant&non_coding_exon_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|23/30|n.3623dupT||||||,A|splice_region_variant&non_coding_exon_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|23/31|n.3603dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.3608-5dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.3608-5dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.3608-5dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.3608-5dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.3608-5dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.3608-5dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.3608-5dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.3608-5dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.3608-5dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.3608-5dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.3608-5dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.3608-5dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.3608-5dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.3608-5dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.3608-5dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.3608-5dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.3608-5dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.3608-5dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.3608-5dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.3608-5dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.3608-5dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.3608-5dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.3608-5dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.3608-5dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.3608-5dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.3608-5dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.3608-5dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.3608-5dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.3608-5dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.3608-5dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.3608-5dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.3608-5dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.3608-5dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.3608-5dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.3608-5dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.3608-5dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.3608-5dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.3608-5dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.3608-5dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.3608-5dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.3608-5dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.3608-5dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.3608-5dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.3608-5dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.3608-5dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.3608-5dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|22/34|c.3608-5dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|21/34|c.3608-5dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|23/34|c.3608-5dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|24/34|c.3608-5dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|25/34|c.3608-5dupT||||||;LOF=(CLTCL1|ENSG00000070371|12|0.17) 22 19189003 . A AC . . ANN=C|frameshift_variant&splice_region_variant|HIGH|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|23/33|c.3601dupG|p.Val1201fs|3674/5513|3601/4923|1201/1640||,C|frameshift_variant&splice_region_variant|HIGH|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|23/32|c.3601dupG|p.Val1201fs|3645/5313|3601/4752|1201/1583||,C|splice_region_variant&non_coding_exon_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript|2/10|n.160dupG||||||,C|splice_region_variant&intron_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|23/33|c.3608-7dupG||||||,C|splice_region_variant&non_coding_exon_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript|2/12|n.158dupG||||||,C|splice_region_variant&non_coding_exon_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|23/30|n.3621dupG||||||,C|splice_region_variant&non_coding_exon_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|23/31|n.3601dupG||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.3608-7dupG||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.3608-7dupG||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.3608-7dupG||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.3608-7dupG||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.3608-7dupG||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.3608-7dupG||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.3608-7dupG||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.3608-7dupG||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.3608-7dupG||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.3608-7dupG||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.3608-7dupG||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.3608-7dupG||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.3608-7dupG||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.3608-7dupG||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.3608-7dupG||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.3608-7dupG||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.3608-7dupG||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.3608-7dupG||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.3608-7dupG||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.3608-7dupG||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.3608-7dupG||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.3608-7dupG||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.3608-7dupG||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.3608-7dupG||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.3608-7dupG||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.3608-7dupG||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.3608-7dupG||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.3608-7dupG||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.3608-7dupG||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.3608-7dupG||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.3608-7dupG||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.3608-7dupG||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.3608-7dupG||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.3608-7dupG||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.3608-7dupG||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.3608-7dupG||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.3608-7dupG||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.3608-7dupG||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.3608-7dupG||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.3608-7dupG||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.3608-7dupG||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.3608-7dupG||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.3608-7dupG||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.3608-7dupG||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.3608-7dupG||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.3608-7dupG||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|22/34|c.3608-7dupG||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|21/34|c.3608-7dupG||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|23/34|c.3608-7dupG||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|24/34|c.3608-7dupG||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|25/34|c.3608-7dupG||||||;LOF=(CLTCL1|ENSG00000070371|12|0.17) 22 19189027 . C T . . ANN=T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.3608-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.3608-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.3608-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.3608-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.3608-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.3608-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.3608-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.3608-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.3608-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.3608-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.3608-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.3608-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.3608-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.3608-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.3608-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.3608-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.3608-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.3608-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.3608-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.3608-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.3608-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.3608-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.3608-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.3608-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.3608-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.3608-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.3608-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.3608-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.3608-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.3608-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.3608-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.3608-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.3608-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.3608-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.3608-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.3608-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.3608-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.3608-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.3608-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.3608-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.3608-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.3608-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.3608-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.3608-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.3608-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.3608-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|22/34|c.3608-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|21/34|c.3608-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|23/34|c.3608-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|24/34|c.3608-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|25/34|c.3608-30G>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|22/32|c.3601-23G>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|22/31|c.3601-23G>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript|1/9|n.160-23G>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|23/33|c.3608-30G>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript|1/11|n.158-23G>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|22/29|n.3621-23G>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|22/30|n.3601-23G>A|||||| 22 19189034 . ACT A . . ANN=|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.3608-39_3608-38delAG||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.3608-39_3608-38delAG||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.3608-39_3608-38delAG||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.3608-39_3608-38delAG||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.3608-39_3608-38delAG||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.3608-39_3608-38delAG||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.3608-39_3608-38delAG||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.3608-39_3608-38delAG||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.3608-39_3608-38delAG||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.3608-39_3608-38delAG||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.3608-39_3608-38delAG||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.3608-39_3608-38delAG||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.3608-39_3608-38delAG||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.3608-39_3608-38delAG||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.3608-39_3608-38delAG||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.3608-39_3608-38delAG||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.3608-39_3608-38delAG||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.3608-39_3608-38delAG||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.3608-39_3608-38delAG||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.3608-39_3608-38delAG||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.3608-39_3608-38delAG||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.3608-39_3608-38delAG||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.3608-39_3608-38delAG||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.3608-39_3608-38delAG||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.3608-39_3608-38delAG||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.3608-39_3608-38delAG||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.3608-39_3608-38delAG||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.3608-39_3608-38delAG||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.3608-39_3608-38delAG||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.3608-39_3608-38delAG||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.3608-39_3608-38delAG||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.3608-39_3608-38delAG||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.3608-39_3608-38delAG||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.3608-39_3608-38delAG||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.3608-39_3608-38delAG||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.3608-39_3608-38delAG||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.3608-39_3608-38delAG||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.3608-39_3608-38delAG||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.3608-39_3608-38delAG||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.3608-39_3608-38delAG||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.3608-39_3608-38delAG||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.3608-39_3608-38delAG||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.3608-39_3608-38delAG||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.3608-39_3608-38delAG||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.3608-39_3608-38delAG||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.3608-39_3608-38delAG||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|22/34|c.3608-39_3608-38delAG||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|21/34|c.3608-39_3608-38delAG||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|23/34|c.3608-39_3608-38delAG||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|24/34|c.3608-39_3608-38delAG||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|25/34|c.3608-39_3608-38delAG||||||,|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|22/32|c.3601-32_3601-31delAG||||||,|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|22/31|c.3601-32_3601-31delAG||||||,|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript|1/9|n.160-32_160-31delAG||||||,|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|23/33|c.3608-39_3608-38delAG||||||,|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript|1/11|n.158-32_158-31delAG||||||,|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|22/29|n.3621-32_3621-31delAG||||||,|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|22/30|n.3601-32_3601-31delAG|||||| 22 19195680 . T C . . ANN=C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|22/33|c.3584A>G|p.Asn1195Ser|3657/5513|3584/4923|1195/1640||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|22/32|c.3584A>G|p.Asn1195Ser|3628/5313|3584/4752|1195/1583||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|22/34|c.3584A>G|p.Asn1195Ser|3659/5512|3584/4923|1195/1640||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|22/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|21/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|23/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|24/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|25/34|c.3584A>G||||||,C|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript||n.-1A>G|||||494|,C|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript||n.-1A>G|||||496|,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|22/30|n.3604A>G||||||,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|22/31|n.3584A>G|||||| 22 19195771 . G A . . ANN=A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|22/33|c.3493C>T|p.Arg1165Cys|3566/5513|3493/4923|1165/1640||,A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|22/32|c.3493C>T|p.Arg1165Cys|3537/5313|3493/4752|1165/1583||,A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|22/34|c.3493C>T|p.Arg1165Cys|3568/5512|3493/4923|1165/1640||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|22/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|21/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|23/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|24/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|25/34|c.3493C>T||||||,A|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript||n.-1C>T|||||585|,A|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript||n.-1C>T|||||587|,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|22/30|n.3513C>T||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|22/31|n.3493C>T|||||| 22 19196449 . T C . . ANN=C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|21/33|c.3425A>G|p.Gln1142Arg|3498/5513|3425/4923|1142/1640||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|21/32|c.3425A>G|p.Gln1142Arg|3469/5313|3425/4752|1142/1583||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|21/34|c.3425A>G|p.Gln1142Arg|3500/5512|3425/4923|1142/1640||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|22/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|21/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|23/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|24/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|25/34|c.3425A>G||||||,C|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript||n.-1A>G|||||1263|,C|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript||n.-1A>G|||||1265|,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|21/30|n.3445A>G||||||,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|21/31|n.3425A>G|||||| 22 19196491 . T C . . ANN=C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|21/33|c.3383A>G|p.Tyr1128Cys|3456/5513|3383/4923|1128/1640||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|21/32|c.3383A>G|p.Tyr1128Cys|3427/5313|3383/4752|1128/1583||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|21/34|c.3383A>G|p.Tyr1128Cys|3458/5512|3383/4923|1128/1640||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|22/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|21/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|23/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|24/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|25/34|c.3383A>G||||||,C|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript||n.-1A>G|||||1305|,C|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript||n.-1A>G|||||1307|,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|21/30|n.3403A>G||||||,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|21/31|n.3383A>G|||||| 22 19196502 . G A . . ANN=A|synonymous_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|21/33|c.3372C>T|p.Ala1124Ala|3445/5513|3372/4923|1124/1640||,A|synonymous_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|21/32|c.3372C>T|p.Ala1124Ala|3416/5313|3372/4752|1124/1583||,A|synonymous_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|21/34|c.3372C>T|p.Ala1124Ala|3447/5512|3372/4923|1124/1640||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|21/32|c.3372C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|20/32|c.3372C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|19/32|c.3372C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.3372C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.3372C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.3372C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.3372C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.3372C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.3372C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.3372C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.3372C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.3372C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.3372C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.3372C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.3372C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.3372C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.3372C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.3372C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.3372C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.3372C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.3372C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.3372C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.3372C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.3372C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.3372C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.3372C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.3372C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.3372C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.3372C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.3372C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.3372C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.3372C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.3372C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.3372C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.3372C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.3372C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.3372C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.3372C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.3372C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.3372C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.3372C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.3372C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.3372C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.3372C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.3372C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.3372C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.3372C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.3372C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.3372C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|21/34|c.3372C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|20/34|c.3372C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|19/34|c.3372C>T||||||,A|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript||n.-1C>T|||||1316|,A|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript||n.-1C>T|||||1318|,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|21/30|n.3392C>T||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|21/31|n.3372C>T|||||| 22 19196615 . C T . . ANN=T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|21/33|c.3259G>A|p.Glu1087Lys|3332/5513|3259/4923|1087/1640||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|21/32|c.3259G>A|p.Glu1087Lys|3303/5313|3259/4752|1087/1583||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|21/34|c.3259G>A|p.Glu1087Lys|3334/5512|3259/4923|1087/1640||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|21/32|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|20/32|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|19/32|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|21/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|20/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|19/34|c.3259G>A||||||,T|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript||n.-1G>A|||||1429|,T|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript||n.-1G>A|||||1431|,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|21/30|n.3279G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|21/31|n.3259G>A|||||| 22 19196673 . C CA . . ANN=A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|21/32|c.3250-50dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|20/32|c.3250-50dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|19/32|c.3250-50dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.3250-50dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.3250-50dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.3250-50dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.3250-50dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.3250-50dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.3250-50dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.3250-50dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.3250-50dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.3250-50dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.3250-50dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.3250-50dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.3250-50dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.3250-50dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.3250-50dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.3250-50dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.3250-50dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.3250-50dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.3250-50dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.3250-50dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.3250-50dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.3250-50dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.3250-50dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.3250-50dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.3250-50dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.3250-50dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.3250-50dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.3250-50dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.3250-50dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.3250-50dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.3250-50dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.3250-50dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.3250-50dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.3250-50dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.3250-50dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.3250-50dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.3250-50dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.3250-50dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.3250-50dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.3250-50dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.3250-50dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.3250-50dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.3250-50dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.3250-50dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.3250-50dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.3250-50dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.3250-50dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|21/34|c.3250-50dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|20/34|c.3250-50dupT||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|19/34|c.3250-50dupT||||||,A|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript||n.-1dupT|||||1488|,A|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript||n.-1dupT|||||1490|,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|20/32|c.3250-50dupT||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|20/31|c.3250-50dupT||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|20/33|c.3250-50dupT||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|20/29|n.3270-50dupT||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|20/30|n.3250-50dupT|||||| 22 19197819 . T TAC . . ANN=AC|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|21/32|c.3249+15_3249+16dupGT||||||,AC|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|20/32|c.3249+15_3249+16dupGT||||||,AC|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|19/32|c.3249+15_3249+16dupGT||||||,AC|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.3249+15_3249+16dupGT||||||,AC|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.3249+15_3249+16dupGT||||||,AC|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.3249+15_3249+16dupGT||||||,AC|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.3249+15_3249+16dupGT||||||,AC|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.3249+15_3249+16dupGT||||||,AC|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.3249+15_3249+16dupGT||||||,AC|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.3249+15_3249+16dupGT||||||,AC|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.3249+15_3249+16dupGT||||||,AC|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.3249+15_3249+16dupGT||||||,AC|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.3249+15_3249+16dupGT||||||,AC|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.3249+15_3249+16dupGT||||||,AC|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.3249+15_3249+16dupGT||||||,AC|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.3249+15_3249+16dupGT||||||,AC|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.3249+15_3249+16dupGT||||||,AC|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.3249+15_3249+16dupGT||||||,AC|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.3249+15_3249+16dupGT||||||,AC|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.3249+15_3249+16dupGT||||||,AC|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.3249+15_3249+16dupGT||||||,AC|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.3249+15_3249+16dupGT||||||,AC|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.3249+15_3249+16dupGT||||||,AC|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.3249+15_3249+16dupGT||||||,AC|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.3249+15_3249+16dupGT||||||,AC|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.3249+15_3249+16dupGT||||||,AC|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.3249+15_3249+16dupGT||||||,AC|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.3249+15_3249+16dupGT||||||,AC|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.3249+15_3249+16dupGT||||||,AC|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.3249+15_3249+16dupGT||||||,AC|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.3249+15_3249+16dupGT||||||,AC|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.3249+15_3249+16dupGT||||||,AC|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.3249+15_3249+16dupGT||||||,AC|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.3249+15_3249+16dupGT||||||,AC|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.3249+15_3249+16dupGT||||||,AC|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.3249+15_3249+16dupGT||||||,AC|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.3249+15_3249+16dupGT||||||,AC|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.3249+15_3249+16dupGT||||||,AC|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.3249+15_3249+16dupGT||||||,AC|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.3249+15_3249+16dupGT||||||,AC|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.3249+15_3249+16dupGT||||||,AC|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.3249+15_3249+16dupGT||||||,AC|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.3249+15_3249+16dupGT||||||,AC|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.3249+15_3249+16dupGT||||||,AC|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.3249+15_3249+16dupGT||||||,AC|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.3249+15_3249+16dupGT||||||,AC|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.3249+15_3249+16dupGT||||||,AC|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.3249+15_3249+16dupGT||||||,AC|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.3249+15_3249+16dupGT||||||,AC|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|21/34|c.3249+15_3249+16dupGT||||||,AC|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|20/34|c.3249+15_3249+16dupGT||||||,AC|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|19/34|c.3249+15_3249+16dupGT||||||,AC|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript||n.-1_-1dupGT|||||2634|,AC|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript||n.-1_-1dupGT|||||2636|,AC|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|20/32|c.3249+15_3249+16dupGT||||||,AC|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|20/31|c.3249+15_3249+16dupGT||||||,AC|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|20/33|c.3249+15_3249+16dupGT||||||,AC|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|20/29|n.3269+15_3269+16dupGT||||||,AC|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|20/30|n.3249+15_3249+16dupGT|||||| 22 19197896 . T C . . ANN=C|synonymous_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|20/33|c.3189A>G|p.Ala1063Ala|3262/5513|3189/4923|1063/1640||,C|synonymous_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|20/32|c.3189A>G|p.Ala1063Ala|3233/5313|3189/4752|1063/1583||,C|synonymous_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|20/34|c.3189A>G|p.Ala1063Ala|3264/5512|3189/4923|1063/1640||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|21/32|c.3189A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|20/32|c.3189A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|19/32|c.3189A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.3189A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.3189A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.3189A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.3189A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.3189A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.3189A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.3189A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.3189A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.3189A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.3189A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.3189A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.3189A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.3189A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.3189A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.3189A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.3189A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.3189A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.3189A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.3189A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.3189A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.3189A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.3189A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.3189A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.3189A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.3189A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.3189A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.3189A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.3189A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.3189A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.3189A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.3189A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.3189A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.3189A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.3189A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.3189A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.3189A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.3189A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.3189A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.3189A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.3189A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.3189A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.3189A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.3189A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.3189A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.3189A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.3189A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|21/34|c.3189A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|20/34|c.3189A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|19/34|c.3189A>G||||||,C|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript||n.-1A>G|||||2710|,C|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript||n.-1A>G|||||2712|,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|20/30|n.3209A>G||||||,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|20/31|n.3189A>G|||||| 22 19197948 . C T . . ANN=T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|20/33|c.3137G>A|p.Arg1046His|3210/5513|3137/4923|1046/1640||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|20/32|c.3137G>A|p.Arg1046His|3181/5313|3137/4752|1046/1583||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|20/34|c.3137G>A|p.Arg1046His|3212/5512|3137/4923|1046/1640||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|21/32|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|20/32|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|19/32|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|21/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|20/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|19/34|c.3137G>A||||||,T|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript||n.-1G>A|||||2762|,T|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript||n.-1G>A|||||2764|,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|20/30|n.3157G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|20/31|n.3137G>A|||||| 22 19197949 . G A . . ANN=A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|20/33|c.3136C>T|p.Arg1046Cys|3209/5513|3136/4923|1046/1640||,A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|20/32|c.3136C>T|p.Arg1046Cys|3180/5313|3136/4752|1046/1583||,A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|20/34|c.3136C>T|p.Arg1046Cys|3211/5512|3136/4923|1046/1640||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|21/32|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|20/32|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|19/32|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|21/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|20/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|19/34|c.3136C>T||||||,A|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript||n.-1C>T|||||2763|,A|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript||n.-1C>T|||||2765|,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|20/30|n.3156C>T||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|20/31|n.3136C>T|||||| 22 19197988 . T A . . ANN=A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|20/33|c.3097A>T|p.Ile1033Phe|3170/5513|3097/4923|1033/1640||,A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|20/32|c.3097A>T|p.Ile1033Phe|3141/5313|3097/4752|1033/1583||,A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|20/34|c.3097A>T|p.Ile1033Phe|3172/5512|3097/4923|1033/1640||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|21/32|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|20/32|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|19/32|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|21/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|20/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|19/34|c.3097A>T||||||,A|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript||n.-1A>T|||||2802|,A|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript||n.-1A>T|||||2804|,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|20/30|n.3117A>T||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|20/31|n.3097A>T|||||| 22 19198017 . T A . . ANN=A|missense_variant&splice_region_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|20/33|c.3068A>T|p.Asn1023Ile|3141/5513|3068/4923|1023/1640||,A|missense_variant&splice_region_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|20/32|c.3068A>T|p.Asn1023Ile|3112/5313|3068/4752|1023/1583||,A|missense_variant&splice_region_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|20/34|c.3068A>T|p.Asn1023Ile|3143/5512|3068/4923|1023/1640||,A|splice_region_variant&non_coding_exon_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|20/30|n.3088A>T||||||,A|splice_region_variant&non_coding_exon_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|20/31|n.3068A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|21/32|c.3068A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|20/32|c.3068A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|19/32|c.3068A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.3068A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.3068A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.3068A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.3068A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.3068A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.3068A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.3068A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.3068A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.3068A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.3068A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.3068A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.3068A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.3068A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.3068A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.3068A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.3068A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.3068A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.3068A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.3068A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.3068A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.3068A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.3068A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.3068A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.3068A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.3068A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.3068A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.3068A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.3068A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.3068A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.3068A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.3068A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.3068A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.3068A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.3068A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.3068A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.3068A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.3068A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.3068A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.3068A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.3068A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.3068A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.3068A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.3068A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.3068A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.3068A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.3068A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|21/34|c.3068A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|20/34|c.3068A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|19/34|c.3068A>T||||||,A|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript||n.-1A>T|||||2831|,A|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript||n.-1A>T|||||2833| 22 19198044 . G A . . ANN=A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|21/32|c.3066-25C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|20/32|c.3066-25C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|19/32|c.3066-25C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.3066-25C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.3066-25C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.3066-25C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.3066-25C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.3066-25C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.3066-25C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.3066-25C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.3066-25C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.3066-25C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.3066-25C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.3066-25C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.3066-25C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.3066-25C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.3066-25C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.3066-25C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.3066-25C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.3066-25C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.3066-25C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.3066-25C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.3066-25C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.3066-25C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.3066-25C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.3066-25C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.3066-25C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.3066-25C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.3066-25C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.3066-25C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.3066-25C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.3066-25C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.3066-25C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.3066-25C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.3066-25C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.3066-25C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.3066-25C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.3066-25C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.3066-25C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.3066-25C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.3066-25C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.3066-25C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.3066-25C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.3066-25C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.3066-25C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.3066-25C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.3066-25C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.3066-25C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.3066-25C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|21/34|c.3066-25C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|20/34|c.3066-25C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|19/34|c.3066-25C>T||||||,A|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript||n.-1C>T|||||2858|,A|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript||n.-1C>T|||||2860|,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|19/32|c.3066-25C>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|19/31|c.3066-25C>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|19/33|c.3066-25C>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|19/29|n.3086-25C>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|19/30|n.3066-25C>T|||||| 22 19203577 . T A . . ANN=A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|21/32|c.3065+44A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|20/32|c.3065+44A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|19/32|c.3065+44A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.3065+44A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.3065+44A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.3065+44A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.3065+44A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.3065+44A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.3065+44A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.3065+44A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.3065+44A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.3065+44A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.3065+44A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.3065+44A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.3065+44A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.3065+44A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.3065+44A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.3065+44A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.3065+44A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.3065+44A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.3065+44A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.3065+44A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.3065+44A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.3065+44A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.3065+44A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.3065+44A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.3065+44A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.3065+44A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.3065+44A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.3065+44A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.3065+44A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.3065+44A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.3065+44A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.3065+44A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.3065+44A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.3065+44A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.3065+44A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.3065+44A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.3065+44A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.3065+44A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.3065+44A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.3065+44A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.3065+44A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.3065+44A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.3065+44A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.3065+44A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.3065+44A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.3065+44A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.3065+44A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|21/34|c.3065+44A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|20/34|c.3065+44A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|19/34|c.3065+44A>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|19/32|c.3065+44A>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|19/31|c.3065+44A>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|19/33|c.3065+44A>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|19/29|n.3085+44A>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|19/30|n.3065+44A>T|||||| 22 19203603 . C T . . 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coding|28/34|c.3065+18G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.3065+18G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.3065+18G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.3065+18G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.3065+18G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.3065+18G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.3065+18G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.3065+18G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.3065+18G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.3065+18G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.3065+18G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.3065+18G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.3065+18G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|21/34|c.3065+18G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|20/34|c.3065+18G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|19/34|c.3065+18G>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|19/32|c.3065+18G>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|19/31|c.3065+18G>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|19/33|c.3065+18G>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|19/29|n.3085+18G>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|19/30|n.3065+18G>A|||||| 22 19203606 . CT C . . ANN=|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|21/32|c.3065+14delA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|20/32|c.3065+14delA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|19/32|c.3065+14delA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.3065+14delA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.3065+14delA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.3065+14delA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.3065+14delA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.3065+14delA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.3065+14delA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.3065+14delA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.3065+14delA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.3065+14delA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.3065+14delA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.3065+14delA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.3065+14delA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.3065+14delA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.3065+14delA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.3065+14delA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.3065+14delA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.3065+14delA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.3065+14delA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.3065+14delA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.3065+14delA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.3065+14delA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.3065+14delA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.3065+14delA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.3065+14delA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.3065+14delA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.3065+14delA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.3065+14delA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.3065+14delA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.3065+14delA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.3065+14delA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.3065+14delA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.3065+14delA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.3065+14delA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_c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22 19203625 . G A . . ANN=A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|19/33|c.3061C>T|p.His1021Tyr|3134/5513|3061/4923|1021/1640||,A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|19/32|c.3061C>T|p.His1021Tyr|3105/5313|3061/4752|1021/1583||,A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|19/34|c.3061C>T|p.His1021Tyr|3136/5512|3061/4923|1021/1640||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|21/32|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|20/32|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|19/32|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|21/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|20/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|19/34|c.3061C>T||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|19/30|n.3081C>T||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|19/31|n.3061C>T|||||| 22 19203629 . G A . . ANN=A|synonymous_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|19/33|c.3057C>T|p.Ser1019Ser|3130/5513|3057/4923|1019/1640||,A|synonymous_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|19/32|c.3057C>T|p.Ser1019Ser|3101/5313|3057/4752|1019/1583||,A|synonymous_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|19/34|c.3057C>T|p.Ser1019Ser|3132/5512|3057/4923|1019/1640||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|21/32|c.3057C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|20/32|c.3057C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|19/32|c.3057C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.3057C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.3057C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.3057C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.3057C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.3057C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.3057C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.3057C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.3057C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.3057C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.3057C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.3057C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.3057C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.3057C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.3057C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.3057C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.3057C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.3057C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.3057C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.3057C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.3057C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.3057C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.3057C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.3057C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.3057C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.3057C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.3057C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.3057C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.3057C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.3057C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.3057C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.3057C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.3057C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.3057C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.3057C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.3057C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.3057C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.3057C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.3057C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.3057C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.3057C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.3057C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.3057C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.3057C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.3057C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.3057C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.3057C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|21/34|c.3057C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|20/34|c.3057C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|19/34|c.3057C>T||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|19/30|n.3077C>T||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|19/31|n.3057C>T|||||| 22 19203682 . T C . . ANN=C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|19/33|c.3004A>G|p.Asn1002Asp|3077/5513|3004/4923|1002/1640||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|19/32|c.3004A>G|p.Asn1002Asp|3048/5313|3004/4752|1002/1583||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|19/34|c.3004A>G|p.Asn1002Asp|3079/5512|3004/4923|1002/1640||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|21/32|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|20/32|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|19/32|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|21/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|20/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|19/34|c.3004A>G||||||,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|19/30|n.3024A>G||||||,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|19/31|n.3004A>G|||||| 22 19203725 . C T . . ANN=T|synonymous_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|19/33|c.2961G>A|p.Glu987Glu|3034/5513|2961/4923|987/1640||,T|synonymous_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|19/32|c.2961G>A|p.Glu987Glu|3005/5313|2961/4752|987/1583||,T|synonymous_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|19/34|c.2961G>A|p.Glu987Glu|3036/5512|2961/4923|987/1640||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|21/32|c.2961G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|20/32|c.2961G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|19/32|c.2961G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.2961G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.2961G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.2961G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.2961G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.2961G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.2961G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.2961G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.2961G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.2961G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.2961G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.2961G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.2961G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.2961G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.2961G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.2961G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.2961G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.2961G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.2961G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.2961G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.2961G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.2961G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.2961G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.2961G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.2961G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.2961G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.2961G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.2961G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.2961G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.2961G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.2961G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.2961G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.2961G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.2961G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.2961G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.2961G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.2961G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.2961G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.2961G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.2961G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.2961G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.2961G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.2961G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.2961G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.2961G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.2961G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.2961G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|21/34|c.2961G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|20/34|c.2961G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|19/34|c.2961G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|19/30|n.2981G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|19/31|n.2961G>A|||||| 22 19207346 . C T . . 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371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.2919+48G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.2919+48G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.2919+48G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.2919+48G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.2919+48G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.2919+48G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.2919+48G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.2919+48G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.2919+48G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.2919+48G>A||||||,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000458188|nonsense_mediated_decay||n.*132G>A|||||1750|,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|18/32|c.2919+48G>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|18/31|c.2919+48G>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|18/33|c.2919+48G>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|18/29|n.2939+48G>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|18/30|n.2919+48G>A|||||| 22 19207350 . C T . . ANN=T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.2919+44G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.2919+44G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.2919+44G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.2919+44G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.2919+44G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.2919+44G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.2919+44G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.2919+44G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.2919+44G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.2919+44G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.2919+44G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.2919+44G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.2919+44G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.2919+44G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.2919+44G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.2919+44G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.2919+44G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.2919+44G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.2919+44G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.2919+44G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.2919+44G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.2919+44G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.2919+44G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.2919+44G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.2919+44G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.2919+44G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.2919+44G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.2919+44G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.2919+44G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.2919+44G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.2919+44G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.2919+44G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.2919+44G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.2919+44G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.2919+44G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.2919+44G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.2919+44G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.2919+44G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.2919+44G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.2919+44G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.2919+44G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.2919+44G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.2919+44G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.2919+44G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.2919+44G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.2919+44G>A||||||,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000458188|nonsense_mediated_decay||n.*132G>A|||||1746|,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|18/32|c.2919+44G>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|18/31|c.2919+44G>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|18/33|c.2919+44G>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|18/29|n.2939+44G>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|18/30|n.2919+44G>A|||||| 22 19207377 . C A . . ANN=A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.2919+17G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.2919+17G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.2919+17G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.2919+17G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.2919+17G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.2919+17G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.2919+17G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.2919+17G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.2919+17G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.2919+17G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.2919+17G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.2919+17G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.2919+17G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.2919+17G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.2919+17G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.2919+17G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.2919+17G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.2919+17G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.2919+17G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.2919+17G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.2919+17G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.2919+17G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.2919+17G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.2919+17G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.2919+17G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.2919+17G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.2919+17G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.2919+17G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.2919+17G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.2919+17G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.2919+17G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.2919+17G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.2919+17G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.2919+17G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.2919+17G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.2919+17G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.2919+17G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.2919+17G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.2919+17G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.2919+17G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.2919+17G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.2919+17G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.2919+17G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.2919+17G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.2919+17G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.2919+17G>T||||||,A|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000458188|nonsense_mediated_decay||n.*132G>T|||||1719|,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|18/32|c.2919+17G>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|18/31|c.2919+17G>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|18/33|c.2919+17G>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|18/29|n.2939+17G>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|18/30|n.2919+17G>T|||||| 22 19207411 . T C . . ANN=C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|18/33|c.2902A>G|p.Arg968Gly|2975/5513|2902/4923|968/1640||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|18/32|c.2902A>G|p.Arg968Gly|2946/5313|2902/4752|968/1583||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|18/34|c.2902A>G|p.Arg968Gly|2977/5512|2902/4923|968/1640||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000353891|protein_coding|16/32|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000353891|protein_coding|17/32|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000353891|protein_coding|18/32|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000427926|protein_coding|16/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000427926|protein_coding|17/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000427926|protein_coding|18/34|c.2902A>G||||||,C|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000458188|nonsense_mediated_decay||n.*132A>G|||||1685|,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|18/30|n.2922A>G||||||,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|18/31|n.2902A>G|||||| 22 19207455 . G A . . ANN=A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|18/33|c.2858C>T|p.Pro953Leu|2931/5513|2858/4923|953/1640||,A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|18/32|c.2858C>T|p.Pro953Leu|2902/5313|2858/4752|953/1583||,A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|18/34|c.2858C>T|p.Pro953Leu|2933/5512|2858/4923|953/1640||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000353891|protein_coding|16/32|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000353891|protein_coding|17/32|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000353891|protein_coding|18/32|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000427926|protein_coding|16/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000427926|protein_coding|17/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000427926|protein_coding|18/34|c.2858C>T||||||,A|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000458188|nonsense_mediated_decay||n.*132C>T|||||1641|,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|18/30|n.2878C>T||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|18/31|n.2858C>T|||||| 22 19207479 . C T . . ANN=T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|18/33|c.2834G>A|p.Arg945His|2907/5513|2834/4923|945/1640||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|18/32|c.2834G>A|p.Arg945His|2878/5313|2834/4752|945/1583||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|18/34|c.2834G>A|p.Arg945His|2909/5512|2834/4923|945/1640||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000353891|protein_coding|16/32|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000353891|protein_coding|17/32|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000353891|protein_coding|18/32|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000427926|protein_coding|16/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000427926|protein_coding|17/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000427926|protein_coding|18/34|c.2834G>A||||||,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000458188|nonsense_mediated_decay||n.*132G>A|||||1617|,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|18/30|n.2854G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|18/31|n.2834G>A|||||| 22 19207491 . T C . . ANN=C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|18/33|c.2822A>G|p.Lys941Arg|2895/5513|2822/4923|941/1640||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|18/32|c.2822A>G|p.Lys941Arg|2866/5313|2822/4752|941/1583||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|18/34|c.2822A>G|p.Lys941Arg|2897/5512|2822/4923|941/1640||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000353891|protein_coding|16/32|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000353891|protein_coding|17/32|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000353891|protein_coding|18/32|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000427926|protein_coding|16/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000427926|protein_coding|17/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000427926|protein_coding|18/34|c.2822A>G||||||,C|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000458188|nonsense_mediated_decay||n.*132A>G|||||1605|,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|18/30|n.2842A>G||||||,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|18/31|n.2822A>G|||||| 22 19207533 . CAT C . . ANN=|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000353891|protein_coding|16/32|c.2797-19_2797-18delAT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000353891|protein_coding|17/32|c.2797-19_2797-18delAT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000353891|protein_coding|18/32|c.2797-19_2797-18delAT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.2797-19_2797-18delAT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.2797-19_2797-18delAT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.2797-19_2797-18delAT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.2797-19_2797-18delAT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.2797-19_2797-18delAT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.2797-19_2797-18delAT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.2797-19_2797-18delAT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.2797-19_2797-18delAT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.2797-19_2797-18delAT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.2797-19_2797-18delAT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.2797-19_2797-18delAT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.2797-19_2797-18delAT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.2797-19_2797-18delAT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.2797-19_2797-18delAT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.2797-19_2797-18delAT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.2797-19_2797-18delAT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.2797-19_2797-18delAT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.2797-19_2797-18delAT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.2797-19_2797-18delAT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.2797-19_2797-18delAT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.2797-19_2797-18delAT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.2797-19_2797-18delAT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.2797-19_2797-18delAT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.2797-19_2797-18delAT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.2797-19_2797-18delAT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.2797-19_2797-18delAT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.2797-19_2797-18delAT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.2797-19_2797-18delAT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.2797-19_2797-18delAT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.2797-19_2797-18delAT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.2797-19_2797-18delAT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.2797-19_2797-18delAT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.2797-19_2797-18delAT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.2797-19_2797-18delAT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.2797-19_2797-18delAT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.2797-19_2797-18delAT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.2797-19_2797-18delAT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.2797-19_2797-18delAT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.2797-19_2797-18delAT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.2797-19_2797-18delAT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.2797-19_2797-18delAT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.2797-19_2797-18delAT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.2797-19_2797-18delAT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.2797-19_2797-18delAT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.2797-19_2797-18delAT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.2797-19_2797-18delAT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000427926|protein_coding|16/34|c.2797-19_2797-18delAT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000427926|protein_coding|17/34|c.2797-19_2797-18delAT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000427926|protein_coding|18/34|c.2797-19_2797-18delAT||||||,|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000458188|nonsense_mediated_decay||n.*132_*132delAT|||||1562|,|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|17/32|c.2797-19_2797-18delAT||||||,|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|17/31|c.2797-19_2797-18delAT||||||,|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|17/33|c.2797-19_2797-18delAT||||||,|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|17/29|n.2817-19_2817-18delAT||||||,|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|17/30|n.2797-19_2797-18delAT|||||| 22 19209073 . T C . . ANN=C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|17/33|c.2623A>G|p.Thr875Ala|2696/5513|2623/4923|875/1640||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|17/32|c.2623A>G|p.Thr875Ala|2667/5313|2623/4752|875/1583||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|17/34|c.2623A>G|p.Thr875Ala|2698/5512|2623/4923|875/1640||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000353891|protein_coding|16/32|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000353891|protein_coding|17/32|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000353891|protein_coding|18/32|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000427926|protein_coding|16/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000427926|protein_coding|17/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000427926|protein_coding|18/34|c.2623A>G||||||,C|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000458188|nonsense_mediated_decay||n.*132A>G|||||23|,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|17/30|n.2643A>G||||||,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|17/31|n.2623A>G|||||| 22 19209167 . A G . . ANN=G|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000353891|protein_coding|16/32|c.2562-33T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000353891|protein_coding|17/32|c.2562-33T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000353891|protein_coding|18/32|c.2562-33T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.2562-33T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.2562-33T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.2562-33T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.2562-33T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.2562-33T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.2562-33T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.2562-33T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.2562-33T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.2562-33T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.2562-33T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.2562-33T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.2562-33T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.2562-33T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.2562-33T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.2562-33T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.2562-33T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.2562-33T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.2562-33T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.2562-33T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.2562-33T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.2562-33T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.2562-33T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.2562-33T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.2562-33T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.2562-33T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.2562-33T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.2562-33T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.2562-33T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.2562-33T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.2562-33T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.2562-33T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.2562-33T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.2562-33T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.2562-33T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.2562-33T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.2562-33T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.2562-33T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.2562-33T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.2562-33T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.2562-33T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.2562-33T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.2562-33T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.2562-33T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.2562-33T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.2562-33T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.2562-33T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000427926|protein_coding|16/34|c.2562-33T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000427926|protein_coding|17/34|c.2562-33T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000427926|protein_coding|18/34|c.2562-33T>C||||||,G|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|16/32|c.2562-33T>C||||||,G|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|16/31|c.2562-33T>C||||||,G|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|16/33|c.2562-33T>C||||||,G|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|16/29|n.2582-33T>C||||||,G|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|16/30|n.2562-33T>C||||||,G|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000458188|nonsense_mediated_decay|4/4|n.*404-33T>C|||||| 22 19209458 . A C . . ANN=C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000353891|protein_coding|16/32|c.2561+16T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000353891|protein_coding|17/32|c.2561+16T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000353891|protein_coding|18/32|c.2561+16T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.2561+16T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.2561+16T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.2561+16T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.2561+16T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.2561+16T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.2561+16T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.2561+16T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.2561+16T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.2561+16T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.2561+16T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.2561+16T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.2561+16T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.2561+16T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.2561+16T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.2561+16T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.2561+16T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.2561+16T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.2561+16T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.2561+16T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.2561+16T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.2561+16T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.2561+16T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.2561+16T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.2561+16T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.2561+16T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.2561+16T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.2561+16T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.2561+16T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.2561+16T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.2561+16T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.2561+16T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.2561+16T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.2561+16T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.2561+16T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.2561+16T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.2561+16T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.2561+16T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.2561+16T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.2561+16T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.2561+16T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.2561+16T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.2561+16T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.2561+16T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.2561+16T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.2561+16T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.2561+16T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000427926|protein_coding|16/34|c.2561+16T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000427926|protein_coding|17/34|c.2561+16T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000427926|protein_coding|18/34|c.2561+16T>G||||||,C|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|16/32|c.2561+16T>G||||||,C|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|16/31|c.2561+16T>G||||||,C|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|16/33|c.2561+16T>G||||||,C|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|16/29|n.2581+16T>G||||||,C|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|16/30|n.2561+16T>G||||||,C|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000458188|nonsense_mediated_decay|4/4|n.*403+16T>G|||||| 22 19209603 . C T . . ANN=T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|16/33|c.2432G>A|p.Arg811Gln|2505/5513|2432/4923|811/1640||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|16/32|c.2432G>A|p.Arg811Gln|2476/5313|2432/4752|811/1583||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|16/34|c.2432G>A|p.Arg811Gln|2507/5512|2432/4923|811/1640||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000353891|protein_coding|14/32|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000353891|protein_coding|15/32|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000353891|protein_coding|13/32|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000353891|protein_coding|16/32|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000427926|protein_coding|14/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000427926|protein_coding|15/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000427926|protein_coding|13/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000427926|protein_coding|16/34|c.2432G>A||||||,T|3_prime_UTR_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000458188|nonsense_mediated_decay|4/5|n.*274G>A|||||1945|,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|16/30|n.2452G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|16/31|n.2432G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000458188|nonsense_mediated_decay|4/5|n.*274G>A|||||| 22 19210178 . C T . . ANN=T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000353891|protein_coding|14/32|c.2418+29G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000353891|protein_coding|15/32|c.2418+29G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000353891|protein_coding|13/32|c.2418+29G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000353891|protein_coding|16/32|c.2418+29G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.2418+29G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.2418+29G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.2418+29G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.2418+29G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.2418+29G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.2418+29G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.2418+29G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.2418+29G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.2418+29G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.2418+29G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.2418+29G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.2418+29G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.2418+29G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.2418+29G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.2418+29G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.2418+29G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.2418+29G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.2418+29G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.2418+29G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.2418+29G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.2418+29G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.2418+29G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.2418+29G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.2418+29G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.2418+29G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.2418+29G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.2418+29G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.2418+29G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.2418+29G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.2418+29G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.2418+29G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.2418+29G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.2418+29G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.2418+29G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.2418+29G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.2418+29G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.2418+29G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.2418+29G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.2418+29G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.2418+29G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.2418+29G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.2418+29G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.2418+29G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.2418+29G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.2418+29G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.2418+29G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000427926|protein_coding|14/34|c.2418+29G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000427926|protein_coding|15/34|c.2418+29G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000427926|protein_coding|13/34|c.2418+29G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000427926|protein_coding|16/34|c.2418+29G>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|15/32|c.2418+29G>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|15/31|c.2418+29G>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|15/33|c.2418+29G>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|15/29|n.2438+29G>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|15/30|n.2418+29G>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000458188|nonsense_mediated_decay|3/4|n.*260+29G>A|||||| 22 19211535 . T C . . ANN=C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|14/33|c.2171A>G|p.Asp724Gly|2244/5513|2171/4923|724/1640||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|14/32|c.2171A>G|p.Asp724Gly|2215/5313|2171/4752|724/1583||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|14/34|c.2171A>G|p.Asp724Gly|2246/5512|2171/4923|724/1640||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000353891|protein_coding|14/32|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000353891|protein_coding|15/32|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000353891|protein_coding|13/32|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000353891|protein_coding|16/32|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000427926|protein_coding|14/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000427926|protein_coding|15/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000427926|protein_coding|13/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000427926|protein_coding|16/34|c.2171A>G||||||,C|3_prime_UTR_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000458188|nonsense_mediated_decay|2/5|n.*13A>G|||||13|,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|14/30|n.2191A>G||||||,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|14/31|n.2171A>G||||||,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000458188|nonsense_mediated_decay|2/5|n.*13A>G|||||| 22 19211616 . C A . . ANN=A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000353891|protein_coding|14/32|c.2129-39G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000353891|protein_coding|15/32|c.2129-39G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000353891|protein_coding|13/32|c.2129-39G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000353891|protein_coding|16/32|c.2129-39G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.2129-39G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.2129-39G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.2129-39G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.2129-39G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.2129-39G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.2129-39G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.2129-39G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.2129-39G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.2129-39G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.2129-39G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.2129-39G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.2129-39G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.2129-39G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.2129-39G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.2129-39G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.2129-39G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.2129-39G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.2129-39G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.2129-39G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.2129-39G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.2129-39G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.2129-39G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.2129-39G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.2129-39G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.2129-39G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.2129-39G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.2129-39G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.2129-39G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.2129-39G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.2129-39G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.2129-39G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.2129-39G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.2129-39G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.2129-39G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.2129-39G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.2129-39G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.2129-39G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.2129-39G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.2129-39G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.2129-39G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.2129-39G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.2129-39G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.2129-39G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.2129-39G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.2129-39G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.2129-39G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000427926|protein_coding|14/34|c.2129-39G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000427926|protein_coding|15/34|c.2129-39G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000427926|protein_coding|13/34|c.2129-39G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000427926|protein_coding|16/34|c.2129-39G>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|13/32|c.2129-39G>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|13/31|c.2129-39G>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|13/33|c.2129-39G>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|13/29|n.2149-39G>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|13/30|n.2129-39G>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000458188|nonsense_mediated_decay|1/4|n.103-39G>T|||||| 22 19212947 . T C . . ANN=C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000353891|protein_coding|14/32|c.2128+29A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000353891|protein_coding|15/32|c.2128+29A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000353891|protein_coding|13/32|c.2128+29A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000353891|protein_coding|16/32|c.2128+29A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.2128+29A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.2128+29A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.2128+29A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.2128+29A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.2128+29A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.2128+29A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.2128+29A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.2128+29A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.2128+29A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.2128+29A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.2128+29A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.2128+29A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.2128+29A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.2128+29A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.2128+29A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.2128+29A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.2128+29A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.2128+29A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.2128+29A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.2128+29A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.2128+29A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.2128+29A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.2128+29A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.2128+29A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.2128+29A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.2128+29A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.2128+29A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.2128+29A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.2128+29A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.2128+29A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.2128+29A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.2128+29A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.2128+29A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.2128+29A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.2128+29A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.2128+29A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.2128+29A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.2128+29A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.2128+29A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.2128+29A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.2128+29A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.2128+29A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.2128+29A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.2128+29A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.2128+29A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.2128+29A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000427926|protein_coding|14/34|c.2128+29A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000427926|protein_coding|15/34|c.2128+29A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000427926|protein_coding|13/34|c.2128+29A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000427926|protein_coding|16/34|c.2128+29A>G||||||,C|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000540896|retained_intron||n.*477A>G|||||4421|,C|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|13/32|c.2128+29A>G||||||,C|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|13/31|c.2128+29A>G||||||,C|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|13/33|c.2128+29A>G||||||,C|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|13/29|n.2148+29A>G||||||,C|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|13/30|n.2128+29A>G||||||,C|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000458188|nonsense_mediated_decay|1/4|n.102+795A>G|||||| 22 19212959 . G C . . 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7C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.2128+17C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.2128+17C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.2128+17C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.2128+17C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.2128+17C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.2128+17C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.2128+17C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.2128+17C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.2128+17C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.2128+17C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.2128+17C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.2128+17C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.2128+17C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000427926|protein_coding|14/34|c.2128+17C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000427926|protein_coding|15/34|c.2128+17C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000427926|protein_coding|13/34|c.2128+17C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000427926|protein_coding|16/34|c.2128+17C>G||||||,C|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000540896|retained_intron||n.*477C>G|||||4409|,C|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|13/32|c.2128+17C>G||||||,C|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|13/31|c.2128+17C>G||||||,C|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|13/33|c.2128+17C>G||||||,C|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|13/29|n.2148+17C>G||||||,C|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|13/30|n.2128+17C>G||||||,C|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000458188|nonsense_mediated_decay|1/4|n.102+783C>G|||||| 22 19212968 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|13/32|c.2128+8A>G||||||,C|splice_region_variant&intron_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|13/31|c.2128+8A>G||||||,C|splice_region_variant&intron_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|13/33|c.2128+8A>G||||||,C|splice_region_variant&intron_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|13/29|n.2148+8A>G||||||,C|splice_region_variant&intron_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|13/30|n.2128+8A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000353891|protein_coding|14/32|c.2128+8A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000353891|protein_coding|15/32|c.2128+8A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000353891|protein_coding|13/32|c.2128+8A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000353891|protein_coding|16/32|c.2128+8A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.2128+8A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.2128+8A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.2128+8A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.2128+8A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.2128+8A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.2128+8A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.2128+8A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.2128+8A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.2128+8A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.2128+8A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.2128+8A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.2128+8A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.2128+8A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.2128+8A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.2128+8A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.2128+8A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.2128+8A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.2128+8A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.2128+8A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.2128+8A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.2128+8A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.2128+8A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.2128+8A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.2128+8A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.2128+8A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.2128+8A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.2128+8A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.2128+8A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.2128+8A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.2128+8A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.2128+8A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.2128+8A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.2128+8A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.2128+8A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.2128+8A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.2128+8A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.2128+8A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.2128+8A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.2128+8A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.2128+8A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.2128+8A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.2128+8A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.2128+8A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.2128+8A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.2128+8A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.2128+8A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000427926|protein_coding|14/34|c.2128+8A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000427926|protein_coding|15/34|c.2128+8A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000427926|protein_coding|13/34|c.2128+8A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000427926|protein_coding|16/34|c.2128+8A>G||||||,C|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000540896|retained_intron||n.*477A>G|||||4400|,C|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000458188|nonsense_mediated_decay|1/4|n.102+774A>G|||||| 22 19212999 . A T . . ANN=T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|13/33|c.2105T>A|p.Phe702Tyr|2178/5513|2105/4923|702/1640||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|13/32|c.2105T>A|p.Phe702Tyr|2149/5313|2105/4752|702/1583||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|13/34|c.2105T>A|p.Phe702Tyr|2180/5512|2105/4923|702/1640||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000353891|protein_coding|14/32|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000353891|protein_coding|15/32|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000353891|protein_coding|13/32|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000353891|protein_coding|16/32|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000427926|protein_coding|14/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000427926|protein_coding|15/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000427926|protein_coding|13/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000427926|protein_coding|16/34|c.2105T>A||||||,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000540896|retained_intron||n.*477T>A|||||4369|,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000458188|nonsense_mediated_decay|1/4|n.102+743T>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|13/30|n.2125T>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|13/31|n.2105T>A|||||| 22 19213033 . C T . . ANN=T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|13/33|c.2071G>A|p.Glu691Lys|2144/5513|2071/4923|691/1640||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|13/32|c.2071G>A|p.Glu691Lys|2115/5313|2071/4752|691/1583||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|13/34|c.2071G>A|p.Glu691Lys|2146/5512|2071/4923|691/1640||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000353891|protein_coding|14/32|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000353891|protein_coding|15/32|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000353891|protein_coding|13/32|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000353891|protein_coding|16/32|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000427926|protein_coding|14/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000427926|protein_coding|15/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000427926|protein_coding|13/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000427926|protein_coding|16/34|c.2071G>A||||||,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000540896|retained_intron||n.*477G>A|||||4335|,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000458188|nonsense_mediated_decay|1/4|n.102+709G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|13/30|n.2091G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|13/31|n.2071G>A|||||| 22 19213145 . ATTGAC A . . ANN=|frameshift_variant|HIGH|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|13/33|c.1954_1958delGTCAA|p.Val652fs|2031/5513|1954/4923|652/1640||,|frameshift_variant|HIGH|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|13/32|c.1954_1958delGTCAA|p.Val652fs|2002/5313|1954/4752|652/1583||,|frameshift_variant|HIGH|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|13/34|c.1954_1958delGTCAA|p.Val652fs|2033/5512|1954/4923|652/1640||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000353891|protein_coding|10/32|c.1954_1958delGTCAA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000353891|protein_coding|12/32|c.1954_1958delGTCAA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000353891|protein_coding|13/32|c.1954_1958delGTCAA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000353891|protein_coding|11/32|c.1954_1958delGTCAA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.1954_1958delGTCAA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.1954_1958delGTCAA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.1954_1958delGTCAA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.1954_1958delGTCAA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.1954_1958delGTCAA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.1954_1958delGTCAA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.1954_1958delGTCAA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.1954_1958delGTCAA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.1954_1958delGTCAA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.1954_1958delGTCAA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.1954_1958delGTCAA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.1954_1958delGTCAA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.1954_1958delGTCAA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.1954_1958delGTCAA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.1954_1958delGTCAA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.1954_1958delGTCAA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.1954_1958delGTCAA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.1954_1958delGTCAA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.1954_1958delGTCAA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.1954_1958delGTCAA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.1954_1958delGTCAA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.1954_1958delGTCAA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.1954_1958delGTCAA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.1954_1958delGTCAA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.1954_1958delGTCAA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.1954_1958delGTCAA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.1954_1958delGTCAA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.1954_1958delGTCAA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.1954_1958delGTCAA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.1954_1958delGTCAA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.1954_1958delGTCAA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.1954_1958delGTCAA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.1954_1958delGTCAA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.1954_1958delGTCAA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.1954_1958delGTCAA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.1954_1958delGTCAA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.1954_1958delGTCAA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.1954_1958delGTCAA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.1954_1958delGTCAA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.1954_1958delGTCAA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.1954_1958delGTCAA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.1954_1958delGTCAA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.1954_1958delGTCAA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.1954_1958delGTCAA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.1954_1958delGTCAA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.1954_1958delGTCAA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000427926|protein_coding|10/34|c.1954_1958delGTCAA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000427926|protein_coding|12/34|c.1954_1958delGTCAA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000427926|protein_coding|13/34|c.1954_1958delGTCAA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000427926|protein_coding|11/34|c.1954_1958delGTCAA||||||,|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000540896|retained_intron||n.*477_*477delGTCAA|||||4222|,|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000458188|nonsense_mediated_decay|1/4|n.102+592_102+596delGTCAA||||||,|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|13/30|n.1974_1978delGTCAA||||||,|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|13/31|n.1954_1958delGTCAA||||||;LOF=(CLTCL1|ENSG00000070371|12|0.25) 22 19213744 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|12/33|c.1945G>A|p.Glu649Lys|2018/5513|1945/4923|649/1640||,T|missense_variant&splice_region_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|12/32|c.1945G>A|p.Glu649Lys|1989/5313|1945/4752|649/1583||,T|missense_variant&splice_region_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|12/34|c.1945G>A|p.Glu649Lys|2020/5512|1945/4923|649/1640||,T|splice_region_variant&non_coding_exon_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|12/30|n.1965G>A||||||,T|splice_region_variant&non_coding_exon_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|12/31|n.1945G>A||||||,T|splice_region_variant&non_coding_exon_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000458188|nonsense_mediated_decay|1/5|n.100G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000353891|protein_coding|10/32|c.1945G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000353891|protein_coding|12/32|c.1945G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000353891|protein_coding|13/32|c.1945G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000353891|protein_coding|11/32|c.1945G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.1945G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.1945G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.1945G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.1945G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.1945G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.1945G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.1945G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.1945G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.1945G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.1945G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.1945G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.1945G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.1945G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.1945G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.1945G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.1945G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.1945G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.1945G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.1945G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.1945G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.1945G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.1945G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.1945G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.1945G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.1945G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.1945G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.1945G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.1945G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.1945G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.1945G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.1945G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.1945G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.1945G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.1945G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.1945G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.1945G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.1945G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.1945G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.1945G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.1945G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.1945G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.1945G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.1945G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.1945G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.1945G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.1945G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000427926|protein_coding|10/34|c.1945G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000427926|protein_coding|12/34|c.1945G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000427926|protein_coding|13/34|c.1945G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000427926|protein_coding|11/34|c.1945G>A||||||,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000540896|retained_intron||n.*477G>A|||||3624| 22 19213820 . C A . . ANN=A|synonymous_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|12/33|c.1869G>T|p.Leu623Leu|1942/5513|1869/4923|623/1640||,A|synonymous_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|12/32|c.1869G>T|p.Leu623Leu|1913/5313|1869/4752|623/1583||,A|synonymous_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|12/34|c.1869G>T|p.Leu623Leu|1944/5512|1869/4923|623/1640||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000353891|protein_coding|10/32|c.1869G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000353891|protein_coding|12/32|c.1869G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000353891|protein_coding|13/32|c.1869G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000353891|protein_coding|11/32|c.1869G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Distal_segment|ENST00000353891|protein_coding|10/32|c.1869G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Distal_segment|ENST00000353891|protein_coding|12/32|c.1869G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Distal_segment|ENST00000353891|protein_coding|11/32|c.1869G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.1869G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.1869G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.1869G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.1869G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.1869G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.1869G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.1869G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.1869G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.1869G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.1869G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.1869G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.1869G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.1869G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.1869G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.1869G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.1869G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.1869G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.1869G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.1869G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.1869G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.1869G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.1869G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.1869G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.1869G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000427926|protein_coding|10/34|c.1869G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000427926|protein_coding|12/34|c.1869G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000427926|protein_coding|13/34|c.1869G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000427926|protein_coding|11/34|c.1869G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Distal_segment|ENST00000427926|protein_coding|10/34|c.1869G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Distal_segment|ENST00000427926|protein_coding|12/34|c.1869G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Distal_segment|ENST00000427926|protein_coding|11/34|c.1869G>T||||||,A|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000540896|retained_intron||n.*477G>T|||||3548|,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|12/30|n.1889G>T||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|12/31|n.1869G>T||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000458188|nonsense_mediated_decay|1/5|n.24G>T|||||| 22 19217422 . C T . . ANN=T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|11/33|c.1721G>A|p.Arg574His|1794/5513|1721/4923|574/1640||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|11/32|c.1721G>A|p.Arg574His|1765/5313|1721/4752|574/1583||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|11/34|c.1721G>A|p.Arg574His|1796/5512|1721/4923|574/1640||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000353891|protein_coding|10/32|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000353891|protein_coding|12/32|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000353891|protein_coding|13/32|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000353891|protein_coding|11/32|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Distal_segment|ENST00000353891|protein_coding|10/32|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Distal_segment|ENST00000353891|protein_coding|12/32|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Distal_segment|ENST00000353891|protein_coding|11/32|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000427926|protein_coding|10/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000427926|protein_coding|12/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000427926|protein_coding|13/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000427926|protein_coding|11/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Distal_segment|ENST00000427926|protein_coding|10/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Distal_segment|ENST00000427926|protein_coding|12/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Distal_segment|ENST00000427926|protein_coding|11/34|c.1721G>A||||||,T|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000458188|nonsense_mediated_decay||n.-1G>A|||||3579|,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|11/30|n.1741G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|11/31|n.1721G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000540896|retained_intron|2/2|n.423G>A|||||| 22 19219980 . C T . . ANN=T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000353891|protein_coding|10/32|c.1644+19G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000353891|protein_coding|12/32|c.1644+19G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000353891|protein_coding|13/32|c.1644+19G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000353891|protein_coding|11/32|c.1644+19G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Distal_segment|ENST00000353891|protein_coding|10/32|c.1644+19G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Distal_segment|ENST00000353891|protein_coding|12/32|c.1644+19G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Distal_segment|ENST00000353891|protein_coding|11/32|c.1644+19G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.1644+19G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.1644+19G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.1644+19G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.1644+19G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.1644+19G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.1644+19G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.1644+19G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.1644+19G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.1644+19G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.1644+19G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.1644+19G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.1644+19G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.1644+19G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.1644+19G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.1644+19G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.1644+19G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.1644+19G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.1644+19G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.1644+19G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.1644+19G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.1644+19G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.1644+19G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.1644+19G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.1644+19G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000427926|protein_coding|10/34|c.1644+19G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000427926|protein_coding|12/34|c.1644+19G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000427926|protein_coding|13/34|c.1644+19G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000427926|protein_coding|11/34|c.1644+19G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Distal_segment|ENST00000427926|protein_coding|10/34|c.1644+19G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Distal_segment|ENST00000427926|protein_coding|12/34|c.1644+19G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Distal_segment|ENST00000427926|protein_coding|11/34|c.1644+19G>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|10/32|c.1644+19G>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|10/31|c.1644+19G>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|10/33|c.1644+19G>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|10/29|n.1664+19G>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|10/30|n.1644+19G>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000540896|retained_intron|1/1|n.346+19G>A|||||| 22 19219991 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|10/32|c.1644+8T>C||||||,G|splice_region_variant&intron_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|10/31|c.1644+8T>C||||||,G|splice_region_variant&intron_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|10/33|c.1644+8T>C||||||,G|splice_region_variant&intron_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|10/29|n.1664+8T>C||||||,G|splice_region_variant&intron_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|10/30|n.1644+8T>C||||||,G|splice_region_variant&intron_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000540896|retained_intron|1/1|n.346+8T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000353891|protein_coding|10/32|c.1644+8T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000353891|protein_coding|12/32|c.1644+8T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000353891|protein_coding|13/32|c.1644+8T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000353891|protein_coding|11/32|c.1644+8T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Distal_segment|ENST00000353891|protein_coding|10/32|c.1644+8T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Distal_segment|ENST00000353891|protein_coding|12/32|c.1644+8T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Distal_segment|ENST00000353891|protein_coding|11/32|c.1644+8T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.1644+8T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.1644+8T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.1644+8T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.1644+8T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.1644+8T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.1644+8T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.1644+8T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.1644+8T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.1644+8T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.1644+8T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.1644+8T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.1644+8T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.1644+8T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.1644+8T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.1644+8T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.1644+8T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.1644+8T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.1644+8T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.1644+8T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.1644+8T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.1644+8T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.1644+8T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.1644+8T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.1644+8T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000427926|protein_coding|10/34|c.1644+8T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000427926|protein_coding|12/34|c.1644+8T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000427926|protein_coding|13/34|c.1644+8T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000427926|protein_coding|11/34|c.1644+8T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Distal_segment|ENST00000427926|protein_coding|10/34|c.1644+8T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Distal_segment|ENST00000427926|protein_coding|12/34|c.1644+8T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Distal_segment|ENST00000427926|protein_coding|11/34|c.1644+8T>C|||||| 22 19219992 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|10/32|c.1644+7G>A||||||,T|splice_region_variant&intron_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|10/31|c.1644+7G>A||||||,T|splice_region_variant&intron_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|10/33|c.1644+7G>A||||||,T|splice_region_variant&intron_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|10/29|n.1664+7G>A||||||,T|splice_region_variant&intron_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|10/30|n.1644+7G>A||||||,T|splice_region_variant&intron_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000540896|retained_intron|1/1|n.346+7G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000353891|protein_coding|10/32|c.1644+7G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000353891|protein_coding|12/32|c.1644+7G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000353891|protein_coding|13/32|c.1644+7G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000353891|protein_coding|11/32|c.1644+7G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Distal_segment|ENST00000353891|protein_coding|10/32|c.1644+7G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Distal_segment|ENST00000353891|protein_coding|12/32|c.1644+7G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Distal_segment|ENST00000353891|protein_coding|11/32|c.1644+7G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.1644+7G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.1644+7G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.1644+7G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.1644+7G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.1644+7G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.1644+7G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.1644+7G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.1644+7G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.1644+7G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.1644+7G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.1644+7G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.1644+7G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.1644+7G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.1644+7G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.1644+7G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.1644+7G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.1644+7G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.1644+7G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.1644+7G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.1644+7G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.1644+7G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.1644+7G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.1644+7G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.1644+7G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000427926|protein_coding|10/34|c.1644+7G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000427926|protein_coding|12/34|c.1644+7G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000427926|protein_coding|13/34|c.1644+7G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000427926|protein_coding|11/34|c.1644+7G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Distal_segment|ENST00000427926|protein_coding|10/34|c.1644+7G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Distal_segment|ENST00000427926|protein_coding|12/34|c.1644+7G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Distal_segment|ENST00000427926|protein_coding|11/34|c.1644+7G>A|||||| 22 19220065 . C T . . ANN=T|synonymous_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|10/33|c.1578G>A|p.Pro526Pro|1651/5513|1578/4923|526/1640||,T|synonymous_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|10/32|c.1578G>A|p.Pro526Pro|1622/5313|1578/4752|526/1583||,T|synonymous_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|10/34|c.1578G>A|p.Pro526Pro|1653/5512|1578/4923|526/1640||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Distal_segment|ENST00000353891|protein_coding|10/32|c.1578G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Distal_segment|ENST00000353891|protein_coding|12/32|c.1578G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Distal_segment|ENST00000353891|protein_coding|11/32|c.1578G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.1578G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.1578G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.1578G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.1578G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.1578G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.1578G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.1578G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.1578G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.1578G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.1578G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.1578G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.1578G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.1578G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.1578G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.1578G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.1578G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.1578G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.1578G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.1578G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.1578G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.1578G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.1578G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.1578G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.1578G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Distal_segment|ENST00000427926|protein_coding|10/34|c.1578G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Distal_segment|ENST00000427926|protein_coding|12/34|c.1578G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Distal_segment|ENST00000427926|protein_coding|11/34|c.1578G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|10/30|n.1598G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|10/31|n.1578G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000540896|retained_intron|1/2|n.280G>A|||||| 22 19220648 . G T . . ANN=T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Flexible_linker|ENST00000353891|protein_coding|9/32|c.1521+41C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Flexible_linker|ENST00000353891|protein_coding|10/32|c.1521+41C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Flexible_linker|ENST00000427926|protein_coding|9/34|c.1521+41C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Flexible_linker|ENST00000427926|protein_coding|10/34|c.1521+41C>A||||||,T|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000540896|retained_intron||n.-1C>A|||||304|,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|9/32|c.1521+41C>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|9/31|c.1521+41C>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|9/33|c.1521+41C>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|9/29|n.1541+41C>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|9/30|n.1521+41C>A|||||| 22 19220667 . C T . . ANN=T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Flexible_linker|ENST00000353891|protein_coding|9/32|c.1521+22G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Flexible_linker|ENST00000353891|protein_coding|10/32|c.1521+22G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Flexible_linker|ENST00000427926|protein_coding|9/34|c.1521+22G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Flexible_linker|ENST00000427926|protein_coding|10/34|c.1521+22G>A||||||,T|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000540896|retained_intron||n.-1G>A|||||323|,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|9/32|c.1521+22G>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|9/31|c.1521+22G>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|9/33|c.1521+22G>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|9/29|n.1541+22G>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|9/30|n.1521+22G>A|||||| 22 19220768 . C T . . ANN=T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|9/33|c.1442G>A|p.Arg481Gln|1515/5513|1442/4923|481/1640||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|9/32|c.1442G>A|p.Arg481Gln|1486/5313|1442/4752|481/1583||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|9/34|c.1442G>A|p.Arg481Gln|1517/5512|1442/4923|481/1640||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Flexible_linker|ENST00000353891|protein_coding|9/32|c.1442G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Flexible_linker|ENST00000353891|protein_coding|10/32|c.1442G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Flexible_linker|ENST00000427926|protein_coding|9/34|c.1442G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Flexible_linker|ENST00000427926|protein_coding|10/34|c.1442G>A||||||,T|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000540896|retained_intron||n.-1G>A|||||424|,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|9/30|n.1462G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|9/31|n.1442G>A|||||| 22 19220775 . A C . . ANN=C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|9/33|c.1435T>G|p.Tyr479Asp|1508/5513|1435/4923|479/1640||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|9/32|c.1435T>G|p.Tyr479Asp|1479/5313|1435/4752|479/1583||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|9/34|c.1435T>G|p.Tyr479Asp|1510/5512|1435/4923|479/1640||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|9/32|c.1435T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|1/32|c.1435T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|2/32|c.1435T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|7/32|c.1435T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|5/32|c.1435T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|8/32|c.1435T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|3/32|c.1435T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|6/32|c.1435T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|4/32|c.1435T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|9/34|c.1435T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|2/34|c.1435T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|7/34|c.1435T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|5/34|c.1435T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|8/34|c.1435T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|1/34|c.1435T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|3/34|c.1435T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|6/34|c.1435T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|4/34|c.1435T>G||||||,C|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000540896|retained_intron||n.-1T>G|||||431|,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|9/30|n.1455T>G||||||,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|9/31|n.1435T>G|||||| 22 19220908 . C G . . ANN=G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|9/32|c.1368+37G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|1/32|c.1368+37G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|2/32|c.1368+37G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|7/32|c.1368+37G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|5/32|c.1368+37G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|8/32|c.1368+37G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|3/32|c.1368+37G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|6/32|c.1368+37G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|4/32|c.1368+37G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Binding_site_for_the_uncoating_ATPase_involved_in_lattice_disassembly|ENST00000353891|protein_coding|9/32|c.1368+37G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Binding_site_for_the_uncoating_ATPase_involved_in_lattice_disassembly|ENST00000353891|protein_coding|8/32|c.1368+37G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|9/34|c.1368+37G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|2/34|c.1368+37G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|7/34|c.1368+37G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|5/34|c.1368+37G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|8/34|c.1368+37G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|1/34|c.1368+37G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|3/34|c.1368+37G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|6/34|c.1368+37G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|4/34|c.1368+37G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Binding_site_for_the_uncoating_ATPase_involved_in_lattice_disassembly|ENST00000427926|protein_coding|9/34|c.1368+37G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Binding_site_for_the_uncoating_ATPase_involved_in_lattice_disassembly|ENST00000427926|protein_coding|8/34|c.1368+37G>C||||||,G|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000540896|retained_intron||n.-1G>C|||||564|,G|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|8/32|c.1368+37G>C||||||,G|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|8/31|c.1368+37G>C||||||,G|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|8/33|c.1368+37G>C||||||,G|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|8/29|n.1388+37G>C||||||,G|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|8/30|n.1368+37G>C|||||| 22 19220914 . G A . . ANN=A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|9/32|c.1368+31C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|1/32|c.1368+31C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|2/32|c.1368+31C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|7/32|c.1368+31C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|5/32|c.1368+31C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|8/32|c.1368+31C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|3/32|c.1368+31C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|6/32|c.1368+31C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|4/32|c.1368+31C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Binding_site_for_the_uncoating_ATPase_involved_in_lattice_disassembly|ENST00000353891|protein_coding|9/32|c.1368+31C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Binding_site_for_the_uncoating_ATPase_involved_in_lattice_disassembly|ENST00000353891|protein_coding|8/32|c.1368+31C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|9/34|c.1368+31C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|2/34|c.1368+31C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|7/34|c.1368+31C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|5/34|c.1368+31C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|8/34|c.1368+31C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|1/34|c.1368+31C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|3/34|c.1368+31C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|6/34|c.1368+31C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|4/34|c.1368+31C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Binding_site_for_the_uncoating_ATPase_involved_in_lattice_disassembly|ENST00000427926|protein_coding|9/34|c.1368+31C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Binding_site_for_the_uncoating_ATPase_involved_in_lattice_disassembly|ENST00000427926|protein_coding|8/34|c.1368+31C>T||||||,A|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000540896|retained_intron||n.-1C>T|||||570|,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|8/32|c.1368+31C>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|8/31|c.1368+31C>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|8/33|c.1368+31C>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|8/29|n.1388+31C>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|8/30|n.1368+31C>T|||||| 22 19220971 . G T . . ANN=T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|8/33|c.1342C>A|p.Leu448Ile|1415/5513|1342/4923|448/1640||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|8/32|c.1342C>A|p.Leu448Ile|1386/5313|1342/4752|448/1583||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|8/34|c.1342C>A|p.Leu448Ile|1417/5512|1342/4923|448/1640||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|9/32|c.1342C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|1/32|c.1342C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|2/32|c.1342C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|7/32|c.1342C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|5/32|c.1342C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|8/32|c.1342C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|3/32|c.1342C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|6/32|c.1342C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|4/32|c.1342C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|9/34|c.1342C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|2/34|c.1342C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|7/34|c.1342C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|5/34|c.1342C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|8/34|c.1342C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|1/34|c.1342C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|3/34|c.1342C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|6/34|c.1342C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|4/34|c.1342C>A||||||,T|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000540896|retained_intron||n.-1C>A|||||627|,T|downstream_gene_variant|MODIFIER|AC000081.2|ENSG00000230194|transcript|ENST00000433141|processed_pseudogene||n.*297C>A|||||4995|,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|8/30|n.1362C>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|8/31|n.1342C>A|||||| 22 19221123 . G A . . ANN=A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|8/33|c.1190C>T|p.Thr397Met|1263/5513|1190/4923|397/1640||,A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|8/32|c.1190C>T|p.Thr397Met|1234/5313|1190/4752|397/1583||,A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|8/34|c.1190C>T|p.Thr397Met|1265/5512|1190/4923|397/1640||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|9/32|c.1190C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|1/32|c.1190C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|2/32|c.1190C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|7/32|c.1190C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|5/32|c.1190C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|8/32|c.1190C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|3/32|c.1190C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|6/32|c.1190C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|4/32|c.1190C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|9/34|c.1190C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|2/34|c.1190C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|7/34|c.1190C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|5/34|c.1190C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|8/34|c.1190C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|1/34|c.1190C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|3/34|c.1190C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|6/34|c.1190C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|4/34|c.1190C>T||||||,A|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000540896|retained_intron||n.-1C>T|||||779|,A|downstream_gene_variant|MODIFIER|AC000081.2|ENSG00000230194|transcript|ENST00000433141|processed_pseudogene||n.*297C>T|||||4843|,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|8/30|n.1210C>T||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|8/31|n.1190C>T|||||| 22 19221135 . C T . . ANN=T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|8/33|c.1178G>A|p.Arg393His|1251/5513|1178/4923|393/1640||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|8/32|c.1178G>A|p.Arg393His|1222/5313|1178/4752|393/1583||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|8/34|c.1178G>A|p.Arg393His|1253/5512|1178/4923|393/1640||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|9/32|c.1178G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|1/32|c.1178G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|2/32|c.1178G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|7/32|c.1178G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|5/32|c.1178G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|8/32|c.1178G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|3/32|c.1178G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|6/32|c.1178G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|4/32|c.1178G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|9/34|c.1178G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|2/34|c.1178G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|7/34|c.1178G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|5/34|c.1178G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|8/34|c.1178G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|1/34|c.1178G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|3/34|c.1178G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|6/34|c.1178G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|4/34|c.1178G>A||||||,T|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000540896|retained_intron||n.-1G>A|||||791|,T|downstream_gene_variant|MODIFIER|AC000081.2|ENSG00000230194|transcript|ENST00000433141|processed_pseudogene||n.*297G>A|||||4831|,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|8/30|n.1198G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|8/31|n.1178G>A|||||| 22 19221179 . G A . . ANN=A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|9/32|c.1168-34C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|1/32|c.1168-34C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|2/32|c.1168-34C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|7/32|c.1168-34C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|5/32|c.1168-34C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|8/32|c.1168-34C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|3/32|c.1168-34C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|6/32|c.1168-34C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|4/32|c.1168-34C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|9/34|c.1168-34C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|2/34|c.1168-34C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|7/34|c.1168-34C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|5/34|c.1168-34C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|8/34|c.1168-34C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|1/34|c.1168-34C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|3/34|c.1168-34C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|6/34|c.1168-34C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|4/34|c.1168-34C>T||||||,A|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000540896|retained_intron||n.-1C>T|||||835|,A|downstream_gene_variant|MODIFIER|AC000081.2|ENSG00000230194|transcript|ENST00000433141|processed_pseudogene||n.*297C>T|||||4787|,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|7/32|c.1168-34C>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|7/31|c.1168-34C>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|7/33|c.1168-34C>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|7/29|n.1188-34C>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|7/30|n.1168-34C>T|||||| 22 19222138 . C T . . ANN=T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|7/33|c.1061G>A|p.Arg354His|1134/5513|1061/4923|354/1640||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|7/32|c.1061G>A|p.Arg354His|1105/5313|1061/4752|354/1583||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|7/34|c.1061G>A|p.Arg354His|1136/5512|1061/4923|354/1640||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|9/32|c.1061G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|1/32|c.1061G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|2/32|c.1061G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|7/32|c.1061G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|5/32|c.1061G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|8/32|c.1061G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|3/32|c.1061G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|6/32|c.1061G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|4/32|c.1061G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|9/34|c.1061G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|2/34|c.1061G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|7/34|c.1061G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|5/34|c.1061G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|8/34|c.1061G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|1/34|c.1061G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|3/34|c.1061G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|6/34|c.1061G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|4/34|c.1061G>A||||||,T|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000540896|retained_intron||n.-1G>A|||||1794|,T|downstream_gene_variant|MODIFIER|AC000081.2|ENSG00000230194|transcript|ENST00000433141|processed_pseudogene||n.*297G>A|||||3828|,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|7/30|n.1081G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|7/31|n.1061G>A|||||| 22 19222143 . G A . . ANN=A|synonymous_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|7/33|c.1056C>T|p.Ala352Ala|1129/5513|1056/4923|352/1640||,A|synonymous_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|7/32|c.1056C>T|p.Ala352Ala|1100/5313|1056/4752|352/1583||,A|synonymous_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|7/34|c.1056C>T|p.Ala352Ala|1131/5512|1056/4923|352/1640||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|9/32|c.1056C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|1/32|c.1056C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|2/32|c.1056C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|7/32|c.1056C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|5/32|c.1056C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|8/32|c.1056C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|3/32|c.1056C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|6/32|c.1056C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|4/32|c.1056C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|9/34|c.1056C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|2/34|c.1056C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|7/34|c.1056C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|5/34|c.1056C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|8/34|c.1056C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|1/34|c.1056C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|3/34|c.1056C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|6/34|c.1056C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|4/34|c.1056C>T||||||,A|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000540896|retained_intron||n.-1C>T|||||1799|,A|downstream_gene_variant|MODIFIER|AC000081.2|ENSG00000230194|transcript|ENST00000433141|processed_pseudogene||n.*297C>T|||||3823|,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|7/30|n.1076C>T||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|7/31|n.1056C>T|||||| 22 19222154 . G A . . ANN=A|synonymous_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|7/33|c.1045C>T|p.Leu349Leu|1118/5513|1045/4923|349/1640||,A|synonymous_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|7/32|c.1045C>T|p.Leu349Leu|1089/5313|1045/4752|349/1583||,A|synonymous_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|7/34|c.1045C>T|p.Leu349Leu|1120/5512|1045/4923|349/1640||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|9/32|c.1045C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|1/32|c.1045C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|2/32|c.1045C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|7/32|c.1045C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|5/32|c.1045C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|8/32|c.1045C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|3/32|c.1045C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|6/32|c.1045C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|4/32|c.1045C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|9/34|c.1045C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|2/34|c.1045C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|7/34|c.1045C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|5/34|c.1045C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|8/34|c.1045C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|1/34|c.1045C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|3/34|c.1045C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|6/34|c.1045C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|4/34|c.1045C>T||||||,A|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000540896|retained_intron||n.-1C>T|||||1810|,A|downstream_gene_variant|MODIFIER|AC000081.2|ENSG00000230194|transcript|ENST00000433141|processed_pseudogene||n.*297C>T|||||3812|,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|7/30|n.1065C>T||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|7/31|n.1045C>T|||||| 22 19222234 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|6/32|c.970-5T>C||||||,G|splice_region_variant&intron_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|6/31|c.970-5T>C||||||,G|splice_region_variant&intron_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|6/33|c.970-5T>C||||||,G|splice_region_variant&intron_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|6/29|n.990-5T>C||||||,G|splice_region_variant&intron_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|6/30|n.970-5T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|9/32|c.970-5T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|1/32|c.970-5T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|2/32|c.970-5T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|7/32|c.970-5T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|5/32|c.970-5T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|8/32|c.970-5T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|3/32|c.970-5T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|6/32|c.970-5T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|4/32|c.970-5T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_7|ENST00000353891|protein_coding|7/32|c.970-5T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_7|ENST00000353891|protein_coding|6/32|c.970-5T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|9/34|c.970-5T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|2/34|c.970-5T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|7/34|c.970-5T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|5/34|c.970-5T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|8/34|c.970-5T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|1/34|c.970-5T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|3/34|c.970-5T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|6/34|c.970-5T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|4/34|c.970-5T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_7|ENST00000427926|protein_coding|7/34|c.970-5T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_7|ENST00000427926|protein_coding|6/34|c.970-5T>C||||||,G|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000540896|retained_intron||n.-1T>C|||||1890|,G|downstream_gene_variant|MODIFIER|AC000081.2|ENSG00000230194|transcript|ENST00000433141|processed_pseudogene||n.*297T>C|||||3732| 22 19222239 . CACA C . . ANN=|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|9/32|c.970-13_970-11delTGT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|1/32|c.970-13_970-11delTGT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|2/32|c.970-13_970-11delTGT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|7/32|c.970-13_970-11delTGT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|5/32|c.970-13_970-11delTGT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|8/32|c.970-13_970-11delTGT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|3/32|c.970-13_970-11delTGT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|6/32|c.970-13_970-11delTGT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|4/32|c.970-13_970-11delTGT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_7|ENST00000353891|protein_coding|7/32|c.970-13_970-11delTGT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_7|ENST00000353891|protein_coding|6/32|c.970-13_970-11delTGT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|9/34|c.970-13_970-11delTGT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|2/34|c.970-13_970-11delTGT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|7/34|c.970-13_970-11delTGT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|5/34|c.970-13_970-11delTGT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|8/34|c.970-13_970-11delTGT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|1/34|c.970-13_970-11delTGT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|3/34|c.970-13_970-11delTGT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|6/34|c.970-13_970-11delTGT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|4/34|c.970-13_970-11delTGT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_7|ENST00000427926|protein_coding|7/34|c.970-13_970-11delTGT||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_7|ENST00000427926|protein_coding|6/34|c.970-13_970-11delTGT||||||,|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000540896|retained_intron||n.-1_-1delTGT|||||1896|,|downstream_gene_variant|MODIFIER|AC000081.2|ENSG00000230194|transcript|ENST00000433141|processed_pseudogene||n.*297_*297delTGT|||||3726|,|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|6/32|c.970-13_970-11delTGT||||||,|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|6/31|c.970-13_970-11delTGT||||||,|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|6/33|c.970-13_970-11delTGT||||||,|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|6/29|n.990-13_990-11delTGT||||||,|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|6/30|n.970-13_970-11delTGT|||||| 22 19222259 . C T . . ANN=T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|9/32|c.970-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|1/32|c.970-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|2/32|c.970-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|7/32|c.970-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|5/32|c.970-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|8/32|c.970-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|3/32|c.970-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|6/32|c.970-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|4/32|c.970-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_7|ENST00000353891|protein_coding|7/32|c.970-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_7|ENST00000353891|protein_coding|6/32|c.970-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|9/34|c.970-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|2/34|c.970-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|7/34|c.970-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|5/34|c.970-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|8/34|c.970-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|1/34|c.970-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|3/34|c.970-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|6/34|c.970-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|4/34|c.970-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_7|ENST00000427926|protein_coding|7/34|c.970-30G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_7|ENST00000427926|protein_coding|6/34|c.970-30G>A||||||,T|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000540896|retained_intron||n.-1G>A|||||1915|,T|downstream_gene_variant|MODIFIER|AC000081.2|ENSG00000230194|transcript|ENST00000433141|processed_pseudogene||n.*297G>A|||||3707|,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|6/32|c.970-30G>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|6/31|c.970-30G>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|6/33|c.970-30G>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|6/29|n.990-30G>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|6/30|n.970-30G>A|||||| 22 19222260 . G A . . ANN=A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|9/32|c.970-31C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|1/32|c.970-31C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|2/32|c.970-31C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|7/32|c.970-31C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|5/32|c.970-31C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|8/32|c.970-31C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|3/32|c.970-31C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|6/32|c.970-31C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|4/32|c.970-31C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_7|ENST00000353891|protein_coding|7/32|c.970-31C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_7|ENST00000353891|protein_coding|6/32|c.970-31C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|9/34|c.970-31C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|2/34|c.970-31C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|7/34|c.970-31C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|5/34|c.970-31C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|8/34|c.970-31C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|1/34|c.970-31C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|3/34|c.970-31C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|6/34|c.970-31C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|4/34|c.970-31C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_7|ENST00000427926|protein_coding|7/34|c.970-31C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_7|ENST00000427926|protein_coding|6/34|c.970-31C>T||||||,A|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000540896|retained_intron||n.-1C>T|||||1916|,A|downstream_gene_variant|MODIFIER|AC000081.2|ENSG00000230194|transcript|ENST00000433141|processed_pseudogene||n.*297C>T|||||3706|,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|6/32|c.970-31C>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|6/31|c.970-31C>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|6/33|c.970-31C>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|6/29|n.990-31C>T||||||,A|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|6/30|n.970-31C>T|||||| 22 19223229 . T C . . ANN=C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|6/33|c.959A>G|p.Lys320Arg|1032/5513|959/4923|320/1640||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|6/32|c.959A>G|p.Lys320Arg|1003/5313|959/4752|320/1583||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|6/34|c.959A>G|p.Lys320Arg|1034/5512|959/4923|320/1640||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|9/32|c.959A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|1/32|c.959A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|2/32|c.959A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|7/32|c.959A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|5/32|c.959A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|8/32|c.959A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|3/32|c.959A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|6/32|c.959A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|4/32|c.959A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_7|ENST00000353891|protein_coding|7/32|c.959A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_7|ENST00000353891|protein_coding|6/32|c.959A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|9/34|c.959A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|2/34|c.959A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|7/34|c.959A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|5/34|c.959A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|8/34|c.959A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|1/34|c.959A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|3/34|c.959A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|6/34|c.959A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|4/34|c.959A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_7|ENST00000427926|protein_coding|7/34|c.959A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_7|ENST00000427926|protein_coding|6/34|c.959A>G||||||,C|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000540896|retained_intron||n.-1A>G|||||2885|,C|downstream_gene_variant|MODIFIER|AC000081.2|ENSG00000230194|transcript|ENST00000433141|processed_pseudogene||n.*297A>G|||||2737|,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|6/30|n.979A>G||||||,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|6/31|n.959A>G|||||| 22 19223261 . G A . . ANN=A|synonymous_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|6/33|c.927C>T|p.His309His|1000/5513|927/4923|309/1640||,A|synonymous_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|6/32|c.927C>T|p.His309His|971/5313|927/4752|309/1583||,A|synonymous_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|6/34|c.927C>T|p.His309His|1002/5512|927/4923|309/1640||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|9/32|c.927C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|1/32|c.927C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|2/32|c.927C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|7/32|c.927C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|5/32|c.927C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|8/32|c.927C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|3/32|c.927C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|6/32|c.927C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|4/32|c.927C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_7|ENST00000353891|protein_coding|7/32|c.927C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_7|ENST00000353891|protein_coding|6/32|c.927C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|9/34|c.927C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|2/34|c.927C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|7/34|c.927C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|5/34|c.927C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|8/34|c.927C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|1/34|c.927C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|3/34|c.927C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|6/34|c.927C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|4/34|c.927C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_7|ENST00000427926|protein_coding|7/34|c.927C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_7|ENST00000427926|protein_coding|6/34|c.927C>T||||||,A|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000540896|retained_intron||n.-1C>T|||||2917|,A|downstream_gene_variant|MODIFIER|AC000081.2|ENSG00000230194|transcript|ENST00000433141|processed_pseudogene||n.*297C>T|||||2705|,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|6/30|n.947C>T||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|6/31|n.927C>T|||||| 22 19223332 . C G . . ANN=G|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|6/33|c.856G>C|p.Asp286His|929/5513|856/4923|286/1640||,G|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|6/32|c.856G>C|p.Asp286His|900/5313|856/4752|286/1583||,G|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|6/34|c.856G>C|p.Asp286His|931/5512|856/4923|286/1640||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|9/32|c.856G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|1/32|c.856G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|2/32|c.856G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|7/32|c.856G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|5/32|c.856G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|8/32|c.856G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|3/32|c.856G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|6/32|c.856G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|4/32|c.856G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_6|ENST00000353891|protein_coding|5/32|c.856G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_6|ENST00000353891|protein_coding|6/32|c.856G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|9/34|c.856G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|2/34|c.856G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|7/34|c.856G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|5/34|c.856G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|8/34|c.856G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|1/34|c.856G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|3/34|c.856G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|6/34|c.856G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|4/34|c.856G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_6|ENST00000427926|protein_coding|5/34|c.856G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_6|ENST00000427926|protein_coding|6/34|c.856G>C||||||,G|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000540896|retained_intron||n.-1G>C|||||2988|,G|downstream_gene_variant|MODIFIER|AC000081.2|ENSG00000230194|transcript|ENST00000433141|processed_pseudogene||n.*297G>C|||||2634|,G|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|6/30|n.876G>C||||||,G|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|6/31|n.856G>C|||||| 22 19223352 . T C . . ANN=C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|6/33|c.836A>G|p.Tyr279Cys|909/5513|836/4923|279/1640||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|6/32|c.836A>G|p.Tyr279Cys|880/5313|836/4752|279/1583||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|6/34|c.836A>G|p.Tyr279Cys|911/5512|836/4923|279/1640||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|9/32|c.836A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|1/32|c.836A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|2/32|c.836A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|7/32|c.836A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|5/32|c.836A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|8/32|c.836A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|3/32|c.836A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|6/32|c.836A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|4/32|c.836A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_6|ENST00000353891|protein_coding|5/32|c.836A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_6|ENST00000353891|protein_coding|6/32|c.836A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|9/34|c.836A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|2/34|c.836A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|7/34|c.836A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|5/34|c.836A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|8/34|c.836A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|1/34|c.836A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|3/34|c.836A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|6/34|c.836A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|4/34|c.836A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_6|ENST00000427926|protein_coding|5/34|c.836A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_6|ENST00000427926|protein_coding|6/34|c.836A>G||||||,C|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000540896|retained_intron||n.-1A>G|||||3008|,C|downstream_gene_variant|MODIFIER|AC000081.2|ENSG00000230194|transcript|ENST00000433141|processed_pseudogene||n.*297A>G|||||2614|,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|6/30|n.856A>G||||||,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|6/31|n.836A>G|||||| 22 19226767 . T C . . ANN=C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|9/32|c.795+31A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|1/32|c.795+31A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|2/32|c.795+31A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|7/32|c.795+31A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|5/32|c.795+31A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|8/32|c.795+31A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|3/32|c.795+31A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|6/32|c.795+31A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|4/32|c.795+31A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_6|ENST00000353891|protein_coding|5/32|c.795+31A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_6|ENST00000353891|protein_coding|6/32|c.795+31A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|9/34|c.795+31A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|2/34|c.795+31A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|7/34|c.795+31A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|5/34|c.795+31A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|8/34|c.795+31A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|1/34|c.795+31A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|3/34|c.795+31A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|6/34|c.795+31A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|4/34|c.795+31A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_6|ENST00000427926|protein_coding|5/34|c.795+31A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_6|ENST00000427926|protein_coding|6/34|c.795+31A>G||||||,C|upstream_gene_variant|MODIFIER|AC000081.2|ENSG00000230194|transcript|ENST00000433141|processed_pseudogene||n.-1A>G|||||505|,C|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|5/32|c.795+31A>G||||||,C|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|5/31|c.795+31A>G||||||,C|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|5/33|c.795+31A>G||||||,C|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|5/29|n.815+31A>G||||||,C|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|5/30|n.795+31A>G|||||| 22 19226874 . T C . . ANN=C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|5/33|c.719A>G|p.Asn240Ser|792/5513|719/4923|240/1640||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|5/32|c.719A>G|p.Asn240Ser|763/5313|719/4752|240/1583||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|5/34|c.719A>G|p.Asn240Ser|794/5512|719/4923|240/1640||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|9/32|c.719A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|1/32|c.719A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|2/32|c.719A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|7/32|c.719A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|5/32|c.719A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|8/32|c.719A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|3/32|c.719A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|6/32|c.719A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|4/32|c.719A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_5|ENST00000353891|protein_coding|5/32|c.719A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_5|ENST00000353891|protein_coding|4/32|c.719A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|9/34|c.719A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|2/34|c.719A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|7/34|c.719A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|5/34|c.719A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|8/34|c.719A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|1/34|c.719A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|3/34|c.719A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|6/34|c.719A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|4/34|c.719A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_5|ENST00000427926|protein_coding|5/34|c.719A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_5|ENST00000427926|protein_coding|4/34|c.719A>G||||||,C|upstream_gene_variant|MODIFIER|AC000081.2|ENSG00000230194|transcript|ENST00000433141|processed_pseudogene||n.-1A>G|||||612|,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|5/30|n.739A>G||||||,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|5/31|n.719A>G|||||| 22 19226958 . G T . . ANN=T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|9/32|c.682-47C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|1/32|c.682-47C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|2/32|c.682-47C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|7/32|c.682-47C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|5/32|c.682-47C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|8/32|c.682-47C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|3/32|c.682-47C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|6/32|c.682-47C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|4/32|c.682-47C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_5|ENST00000353891|protein_coding|5/32|c.682-47C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_5|ENST00000353891|protein_coding|4/32|c.682-47C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|9/34|c.682-47C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|2/34|c.682-47C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|7/34|c.682-47C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|5/34|c.682-47C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|8/34|c.682-47C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|1/34|c.682-47C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|3/34|c.682-47C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|6/34|c.682-47C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|4/34|c.682-47C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_5|ENST00000427926|protein_coding|5/34|c.682-47C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_5|ENST00000427926|protein_coding|4/34|c.682-47C>A||||||,T|upstream_gene_variant|MODIFIER|AC000081.2|ENSG00000230194|transcript|ENST00000433141|processed_pseudogene||n.-1C>A|||||696|,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|4/32|c.682-47C>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|4/31|c.682-47C>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|4/33|c.682-47C>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|4/29|n.702-47C>A||||||,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|4/30|n.682-47C>A|||||| 22 19230365 . T C . . ANN=C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|4/33|c.614A>G|p.Lys205Arg|687/5513|614/4923|205/1640||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|4/32|c.614A>G|p.Lys205Arg|658/5313|614/4752|205/1583||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|4/34|c.614A>G|p.Lys205Arg|689/5512|614/4923|205/1640||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|9/32|c.614A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|1/32|c.614A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|2/32|c.614A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|7/32|c.614A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|5/32|c.614A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|8/32|c.614A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|3/32|c.614A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|6/32|c.614A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|4/32|c.614A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_5|ENST00000353891|protein_coding|5/32|c.614A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_5|ENST00000353891|protein_coding|4/32|c.614A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|9/34|c.614A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|2/34|c.614A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|7/34|c.614A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|5/34|c.614A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|8/34|c.614A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|1/34|c.614A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|3/34|c.614A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|6/34|c.614A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|4/34|c.614A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_5|ENST00000427926|protein_coding|5/34|c.614A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_5|ENST00000427926|protein_coding|4/34|c.614A>G||||||,C|upstream_gene_variant|MODIFIER|AC000081.2|ENSG00000230194|transcript|ENST00000433141|processed_pseudogene||n.-1A>G|||||4103|,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|4/30|n.634A>G||||||,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|4/31|n.614A>G|||||| 22 19241488 . C T . . ANN=T|synonymous_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|3/33|c.513G>A|p.Ser171Ser|586/5513|513/4923|171/1640||,T|synonymous_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|3/32|c.513G>A|p.Ser171Ser|557/5313|513/4752|171/1583||,T|synonymous_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|3/34|c.513G>A|p.Ser171Ser|588/5512|513/4923|171/1640||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|9/32|c.513G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|1/32|c.513G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|2/32|c.513G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|7/32|c.513G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|5/32|c.513G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|8/32|c.513G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|3/32|c.513G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|6/32|c.513G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|4/32|c.513G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_4|ENST00000353891|protein_coding|3/32|c.513G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_4|ENST00000353891|protein_coding|4/32|c.513G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|9/34|c.513G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|2/34|c.513G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|7/34|c.513G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|5/34|c.513G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|8/34|c.513G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|1/34|c.513G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|3/34|c.513G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|6/34|c.513G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|4/34|c.513G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_4|ENST00000427926|protein_coding|3/34|c.513G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_4|ENST00000427926|protein_coding|4/34|c.513G>A||||||,T|upstream_gene_variant|MODIFIER|KRT18P62|ENSG00000233471|transcript|ENST00000446618|processed_pseudogene||n.-1C>T|||||3555|,T|downstream_gene_variant|MODIFIER|SNORA15|ENSG00000251940|transcript|ENST00000516131|snoRNA||n.*94C>T|||||3999|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000449918|protein_coding||c.*582G>A|||||69|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|3/30|n.533G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|3/31|n.513G>A|||||| 22 19241585 . A C . . ANN=C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|3/33|c.416T>G|p.Met139Arg|489/5513|416/4923|139/1640||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|3/32|c.416T>G|p.Met139Arg|460/5313|416/4752|139/1583||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|3/34|c.416T>G|p.Met139Arg|491/5512|416/4923|139/1640||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000449918|protein_coding|4/4|c.479T>G|p.Met160Arg|554/582|479/507|160/168||WARNING_TRANSCRIPT_NO_STOP_CODON,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|9/32|c.416T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|1/32|c.416T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|2/32|c.416T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|7/32|c.416T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|5/32|c.416T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|8/32|c.416T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|3/32|c.416T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|6/32|c.416T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|4/32|c.416T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_3|ENST00000353891|protein_coding|3/32|c.416T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|9/34|c.416T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|2/34|c.416T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|7/34|c.416T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|5/34|c.416T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|8/34|c.416T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|1/34|c.416T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|3/34|c.416T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|6/34|c.416T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|4/34|c.416T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_3|ENST00000427926|protein_coding|3/34|c.416T>G||||||,C|upstream_gene_variant|MODIFIER|KRT18P62|ENSG00000233471|transcript|ENST00000446618|processed_pseudogene||n.-1A>C|||||3458|,C|downstream_gene_variant|MODIFIER|SNORA15|ENSG00000251940|transcript|ENST00000516131|snoRNA||n.*94A>C|||||4096|,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|3/30|n.436T>G||||||,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|3/31|n.416T>G|||||| 22 19241631 . C T . . ANN=T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|3/33|c.370G>A|p.Glu124Lys|443/5513|370/4923|124/1640||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|3/32|c.370G>A|p.Glu124Lys|414/5313|370/4752|124/1583||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|3/34|c.370G>A|p.Glu124Lys|445/5512|370/4923|124/1640||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000449918|protein_coding|4/4|c.433G>A|p.Glu145Lys|508/582|433/507|145/168||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|9/32|c.370G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|1/32|c.370G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|2/32|c.370G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|7/32|c.370G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|5/32|c.370G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|8/32|c.370G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|3/32|c.370G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|6/32|c.370G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|4/32|c.370G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_3|ENST00000353891|protein_coding|3/32|c.370G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|9/34|c.370G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|2/34|c.370G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|7/34|c.370G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|5/34|c.370G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|8/34|c.370G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|1/34|c.370G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|3/34|c.370G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|6/34|c.370G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|4/34|c.370G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_3|ENST00000427926|protein_coding|3/34|c.370G>A||||||,T|upstream_gene_variant|MODIFIER|KRT18P62|ENSG00000233471|transcript|ENST00000446618|processed_pseudogene||n.-1C>T|||||3412|,T|downstream_gene_variant|MODIFIER|SNORA15|ENSG00000251940|transcript|ENST00000516131|snoRNA||n.*94C>T|||||4142|,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|3/30|n.390G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|3/31|n.370G>A|||||| 22 19241688 . C T . . ANN=T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|3/33|c.313G>A|p.Ala105Thr|386/5513|313/4923|105/1640||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|3/32|c.313G>A|p.Ala105Thr|357/5313|313/4752|105/1583||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|3/34|c.313G>A|p.Ala105Thr|388/5512|313/4923|105/1640||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000449918|protein_coding|4/4|c.376G>A|p.Ala126Thr|451/582|376/507|126/168||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|9/32|c.313G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|1/32|c.313G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|2/32|c.313G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|7/32|c.313G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|5/32|c.313G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|8/32|c.313G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|3/32|c.313G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|6/32|c.313G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|4/32|c.313G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_2|ENST00000353891|protein_coding|2/32|c.313G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_2|ENST00000353891|protein_coding|3/32|c.313G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|9/34|c.313G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|2/34|c.313G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|7/34|c.313G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|5/34|c.313G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|8/34|c.313G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|1/34|c.313G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|3/34|c.313G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|6/34|c.313G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|4/34|c.313G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_2|ENST00000427926|protein_coding|2/34|c.313G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_2|ENST00000427926|protein_coding|3/34|c.313G>A||||||,T|upstream_gene_variant|MODIFIER|KRT18P62|ENSG00000233471|transcript|ENST00000446618|processed_pseudogene||n.-1C>T|||||3355|,T|downstream_gene_variant|MODIFIER|SNORA15|ENSG00000251940|transcript|ENST00000516131|snoRNA||n.*94C>T|||||4199|,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|3/30|n.333G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|3/31|n.313G>A|||||| 22 19263157 . A G . . ANN=G|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|2/33|c.239T>C|p.Ile80Thr|312/5513|239/4923|80/1640||,G|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|2/32|c.239T>C|p.Ile80Thr|283/5313|239/4752|80/1583||,G|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|2/34|c.239T>C|p.Ile80Thr|314/5512|239/4923|80/1640||,G|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000449918|protein_coding|2/4|c.239T>C|p.Ile80Thr|314/582|239/507|80/168||WARNING_TRANSCRIPT_NO_STOP_CODON,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|9/32|c.239T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|1/32|c.239T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|2/32|c.239T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|7/32|c.239T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|5/32|c.239T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|8/32|c.239T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|3/32|c.239T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|6/32|c.239T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|4/32|c.239T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_2|ENST00000353891|protein_coding|2/32|c.239T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_2|ENST00000353891|protein_coding|3/32|c.239T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|9/34|c.239T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|2/34|c.239T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|7/34|c.239T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|5/34|c.239T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|8/34|c.239T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|1/34|c.239T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|3/34|c.239T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|6/34|c.239T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|4/34|c.239T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_2|ENST00000427926|protein_coding|2/34|c.239T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_2|ENST00000427926|protein_coding|3/34|c.239T>C||||||,G|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|2/30|n.259T>C||||||,G|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|2/31|n.239T>C|||||| 22 19263172 . G C . . ANN=C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|2/33|c.224C>G|p.Pro75Arg|297/5513|224/4923|75/1640||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|2/32|c.224C>G|p.Pro75Arg|268/5313|224/4752|75/1583||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|2/34|c.224C>G|p.Pro75Arg|299/5512|224/4923|75/1640||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000449918|protein_coding|2/4|c.224C>G|p.Pro75Arg|299/582|224/507|75/168||WARNING_TRANSCRIPT_NO_STOP_CODON,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|9/32|c.224C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|1/32|c.224C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|2/32|c.224C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|7/32|c.224C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|5/32|c.224C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|8/32|c.224C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|3/32|c.224C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|6/32|c.224C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|4/32|c.224C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_2|ENST00000353891|protein_coding|2/32|c.224C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_2|ENST00000353891|protein_coding|3/32|c.224C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|9/34|c.224C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|2/34|c.224C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|7/34|c.224C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|5/34|c.224C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|8/34|c.224C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|1/34|c.224C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|3/34|c.224C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|6/34|c.224C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|4/34|c.224C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_2|ENST00000427926|protein_coding|2/34|c.224C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_2|ENST00000427926|protein_coding|3/34|c.224C>G||||||,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|2/30|n.244C>G||||||,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|2/31|n.224C>G|||||| 22 19263214 . G A . . ANN=A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|2/33|c.182C>T|p.Pro61Leu|255/5513|182/4923|61/1640||,A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|2/32|c.182C>T|p.Pro61Leu|226/5313|182/4752|61/1583||,A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|2/34|c.182C>T|p.Pro61Leu|257/5512|182/4923|61/1640||,A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000449918|protein_coding|2/4|c.182C>T|p.Pro61Leu|257/582|182/507|61/168||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|9/32|c.182C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|1/32|c.182C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|2/32|c.182C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|7/32|c.182C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|5/32|c.182C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|8/32|c.182C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|3/32|c.182C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|6/32|c.182C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|4/32|c.182C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_1|ENST00000353891|protein_coding|2/32|c.182C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|9/34|c.182C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|2/34|c.182C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|7/34|c.182C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|5/34|c.182C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|8/34|c.182C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|1/34|c.182C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|3/34|c.182C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|6/34|c.182C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|4/34|c.182C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_1|ENST00000427926|protein_coding|2/34|c.182C>T||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|2/30|n.202C>T||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|2/31|n.182C>T|||||| 22 19263266 . C A . . ANN=A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|2/33|c.130G>T|p.Val44Phe|203/5513|130/4923|44/1640||,A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|2/32|c.130G>T|p.Val44Phe|174/5313|130/4752|44/1583||,A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|2/34|c.130G>T|p.Val44Phe|205/5512|130/4923|44/1640||,A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000449918|protein_coding|2/4|c.130G>T|p.Val44Phe|205/582|130/507|44/168||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|9/32|c.130G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|1/32|c.130G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|2/32|c.130G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|7/32|c.130G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|5/32|c.130G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|8/32|c.130G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|3/32|c.130G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|6/32|c.130G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|4/32|c.130G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_1|ENST00000353891|protein_coding|2/32|c.130G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|9/34|c.130G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|2/34|c.130G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|7/34|c.130G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|5/34|c.130G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|8/34|c.130G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|1/34|c.130G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|3/34|c.130G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|6/34|c.130G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|4/34|c.130G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_1|ENST00000427926|protein_coding|2/34|c.130G>T||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|2/30|n.150G>T||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|2/31|n.130G>T|||||| 22 19263345 . GT G . . ANN=|frameshift_variant|HIGH|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|2/33|c.50delA|p.Asn17fs|123/5513|50/4923|17/1640||,|frameshift_variant|HIGH|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|2/32|c.50delA|p.Asn17fs|94/5313|50/4752|17/1583||,|frameshift_variant|HIGH|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|2/34|c.50delA|p.Asn17fs|125/5512|50/4923|17/1640||,|frameshift_variant|HIGH|CLTCL1|ENSG00000070371|transcript|ENST00000449918|protein_coding|2/4|c.50delA|p.Asn17fs|125/582|50/507|17/168||WARNING_TRANSCRIPT_NO_STOP_CODON,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|9/32|c.50delA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|1/32|c.50delA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|2/32|c.50delA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|7/32|c.50delA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|5/32|c.50delA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|8/32|c.50delA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|3/32|c.50delA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|6/32|c.50delA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|4/32|c.50delA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|9/34|c.50delA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|2/34|c.50delA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|7/34|c.50delA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|5/34|c.50delA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|8/34|c.50delA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|1/34|c.50delA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|3/34|c.50delA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|6/34|c.50delA||||||,|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|4/34|c.50delA||||||,|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|2/30|n.70delA||||||,|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|2/31|n.50delA||||||;LOF=(CLTCL1|ENSG00000070371|12|0.08) 22 19263351 . G T . . ANN=T|splice_region_variant&synonymous_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|2/33|c.45C>A|p.Leu15Leu|118/5513|45/4923|15/1640||,T|splice_region_variant&synonymous_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|2/32|c.45C>A|p.Leu15Leu|89/5313|45/4752|15/1583||,T|splice_region_variant&synonymous_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|2/34|c.45C>A|p.Leu15Leu|120/5512|45/4923|15/1640||,T|splice_region_variant&non_coding_exon_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|2/30|n.65C>A||||||,T|splice_region_variant&non_coding_exon_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|2/31|n.45C>A||||||,T|splice_region_variant&synonymous_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000449918|protein_coding|2/4|c.45C>A|p.Leu15Leu|120/582|45/507|15/168||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|9/32|c.45C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|1/32|c.45C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|2/32|c.45C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|7/32|c.45C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|5/32|c.45C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|8/32|c.45C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|3/32|c.45C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|6/32|c.45C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|4/32|c.45C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|9/34|c.45C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|2/34|c.45C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|7/34|c.45C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|5/34|c.45C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|8/34|c.45C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|1/34|c.45C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|3/34|c.45C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|6/34|c.45C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|4/34|c.45C>A|||||| 22 19263352 . A G . . ANN=G|missense_variant&splice_region_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|2/33|c.44T>C|p.Leu15Pro|117/5513|44/4923|15/1640||,G|missense_variant&splice_region_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|2/32|c.44T>C|p.Leu15Pro|88/5313|44/4752|15/1583||,G|missense_variant&splice_region_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|2/34|c.44T>C|p.Leu15Pro|119/5512|44/4923|15/1640||,G|missense_variant&splice_region_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000449918|protein_coding|2/4|c.44T>C|p.Leu15Pro|119/582|44/507|15/168||WARNING_TRANSCRIPT_NO_STOP_CODON,G|splice_region_variant&non_coding_exon_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|2/30|n.64T>C||||||,G|splice_region_variant&non_coding_exon_variant|LOW|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|2/31|n.44T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|9/32|c.44T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|1/32|c.44T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|2/32|c.44T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|7/32|c.44T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|5/32|c.44T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|8/32|c.44T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|3/32|c.44T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|6/32|c.44T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|4/32|c.44T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|9/34|c.44T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|2/34|c.44T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|7/34|c.44T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|5/34|c.44T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|8/34|c.44T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|1/34|c.44T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|3/34|c.44T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|6/34|c.44T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|4/34|c.44T>C|||||| 22 19279194 . G T . . ANN=T|5_prime_UTR_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|1/33|c.-30C>A|||||30|,T|5_prime_UTR_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|1/32|c.-30C>A|||||30|,T|5_prime_UTR_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|1/34|c.-30C>A|||||30|,T|5_prime_UTR_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000449918|protein_coding|1/4|c.-30C>A|||||30|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron||n.-1C>A|||||10|,T|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay||n.-21C>A|||||10| 22 19340834 . G C . . ANN=C|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|25/25|c.2848+45C>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|20/25|c.2848+45C>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|22/25|c.2848+45C>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|24/25|c.2848+45C>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|19/25|c.2848+45C>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|21/25|c.2848+45C>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|23/25|c.2848+45C>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|18/25|c.2848+45C>G||||||,C|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|23/24|c.2848+45C>G||||||,C|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|19/20|c.2227+45C>G||||||,C|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|23/24|c.2716+45C>G||||||,C|intron_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|23/23|n.*2618+45C>G||||||,C|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|23/23|c.*189+45C>G|||||| 22 19340907 . G A . . ANN=A|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|23/25|c.2820C>T|p.Leu940Leu|3077/4053|2820/3054|940/1017||,A|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|19/21|c.2199C>T|p.Leu733Leu|2419/3395|2199/2433|733/810||,A|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|23/25|c.2688C>T|p.Leu896Leu|2820/3436|2688/2922|896/973||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|25/25|c.2820C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|20/25|c.2820C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|22/25|c.2820C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|24/25|c.2820C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|19/25|c.2820C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|21/25|c.2820C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|23/25|c.2820C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|18/25|c.2820C>T||||||,A|3_prime_UTR_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|23/24|n.*2590C>T|||||55186|,A|3_prime_UTR_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|23/24|c.*161C>T|||||637|,A|non_coding_exon_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|23/24|n.*2590C>T|||||| 22 19340928 . G A . . ANN=A|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|23/25|c.2799C>T|p.His933His|3056/4053|2799/3054|933/1017||,A|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|19/21|c.2178C>T|p.His726His|2398/3395|2178/2433|726/810||,A|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|23/25|c.2667C>T|p.His889His|2799/3436|2667/2922|889/973||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|25/25|c.2799C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|20/25|c.2799C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|22/25|c.2799C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|24/25|c.2799C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|19/25|c.2799C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|21/25|c.2799C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|23/25|c.2799C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|18/25|c.2799C>T||||||,A|3_prime_UTR_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|23/24|n.*2569C>T|||||55165|,A|3_prime_UTR_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|23/24|c.*140C>T|||||616|,A|non_coding_exon_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|23/24|n.*2569C>T|||||| 22 19341006 . A G . . ANN=G|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|23/25|c.2721T>C|p.Pro907Pro|2978/4053|2721/3054|907/1017||,G|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|19/21|c.2100T>C|p.Pro700Pro|2320/3395|2100/2433|700/810||,G|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|23/25|c.2589T>C|p.Pro863Pro|2721/3436|2589/2922|863/973||,G|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|25/25|c.2721T>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|20/25|c.2721T>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|22/25|c.2721T>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|24/25|c.2721T>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|19/25|c.2721T>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|21/25|c.2721T>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|23/25|c.2721T>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|18/25|c.2721T>C||||||,G|3_prime_UTR_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|23/24|n.*2491T>C|||||55087|,G|3_prime_UTR_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|23/24|c.*62T>C|||||538|,G|non_coding_exon_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|23/24|n.*2491T>C|||||| 22 19341007 . G C . . ANN=C|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|23/25|c.2720C>G|p.Pro907Arg|2977/4053|2720/3054|907/1017||,C|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|19/21|c.2099C>G|p.Pro700Arg|2319/3395|2099/2433|700/810||,C|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|23/25|c.2588C>G|p.Pro863Arg|2720/3436|2588/2922|863/973||,C|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|25/25|c.2720C>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|20/25|c.2720C>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|22/25|c.2720C>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|24/25|c.2720C>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|19/25|c.2720C>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|21/25|c.2720C>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|23/25|c.2720C>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|18/25|c.2720C>G||||||,C|3_prime_UTR_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|23/24|n.*2490C>G|||||55086|,C|3_prime_UTR_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|23/24|c.*61C>G|||||537|,C|non_coding_exon_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|23/24|n.*2490C>G|||||| 22 19341085 . TAC T . . ANN=|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|25/25|c.2685-45_2685-44delGT||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|20/25|c.2685-45_2685-44delGT||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|22/25|c.2685-45_2685-44delGT||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|24/25|c.2685-45_2685-44delGT||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|19/25|c.2685-45_2685-44delGT||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|21/25|c.2685-45_2685-44delGT||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|23/25|c.2685-45_2685-44delGT||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|18/25|c.2685-45_2685-44delGT||||||,|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|22/24|c.2685-45_2685-44delGT||||||,|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|18/20|c.2064-45_2064-44delGT||||||,|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|22/24|c.2553-45_2553-44delGT||||||,|intron_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|22/23|n.*2455-45_*2455-44delGT||||||,|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|22/23|c.*26-45_*26-44delGT|||||| 22 19341548 . C T . . ANN=T|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|22/24|c.2417G>A|p.Arg806His|2707/2979|2417/2421|806/806||,T|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|22/25|c.2655G>A|p.Pro885Pro|2912/4053|2655/3054|885/1017||,T|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|18/21|c.2034G>A|p.Pro678Pro|2254/3395|2034/2433|678/810||,T|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|22/25|c.2523G>A|p.Pro841Pro|2655/3436|2523/2922|841/973||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|25/25|c.2655G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|20/25|c.2655G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|22/25|c.2655G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|24/25|c.2655G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|19/25|c.2655G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|21/25|c.2655G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|23/25|c.2655G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|18/25|c.2655G>A||||||,T|3_prime_UTR_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|22/24|n.*2425G>A|||||54545|,T|non_coding_exon_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|22/24|n.*2425G>A|||||| 22 19343718 . C A . . ANN=A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|25/25|c.2455+35G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|20/25|c.2455+35G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|22/25|c.2455+35G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|24/25|c.2455+35G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|19/25|c.2455+35G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|21/25|c.2455+35G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|23/25|c.2455+35G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|18/25|c.2455+35G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|20/25|c.2455+35G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|19/25|c.2455+35G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|21/25|c.2455+35G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|18/25|c.2455+35G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|17/25|c.2455+35G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|20/25|c.2455+35G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|16/25|c.2455+35G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|19/25|c.2455+35G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|21/25|c.2455+35G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|18/25|c.2455+35G>T||||||,A|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|20/24|c.2455+35G>T||||||,A|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|16/20|c.1834+35G>T||||||,A|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|20/24|c.2323+35G>T||||||,A|intron_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|21/23|n.*2331+35G>T||||||,A|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|21/23|c.2323+35G>T|||||| 22 19343769 . T C . . ANN=C|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|20/25|c.2439A>G|p.Leu813Leu|2696/4053|2439/3054|813/1017||,C|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|16/21|c.1818A>G|p.Leu606Leu|2038/3395|1818/2433|606/810||,C|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|20/25|c.2307A>G|p.Leu769Leu|2439/3436|2307/2922|769/973||,C|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|21/24|c.2307A>G|p.Leu769Leu|2597/2979|2307/2421|769/806||,C|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|25/25|c.2439A>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|20/25|c.2439A>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|22/25|c.2439A>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|24/25|c.2439A>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|19/25|c.2439A>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|21/25|c.2439A>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|23/25|c.2439A>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|18/25|c.2439A>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|20/25|c.2439A>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|19/25|c.2439A>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|21/25|c.2439A>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|18/25|c.2439A>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|17/25|c.2439A>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|20/25|c.2439A>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|16/25|c.2439A>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|19/25|c.2439A>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|21/25|c.2439A>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|18/25|c.2439A>G||||||,C|3_prime_UTR_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|21/24|n.*2315A>G|||||52324|,C|non_coding_exon_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|21/24|n.*2315A>G|||||| 22 19344404 . GC G . . ANN=|splice_region_variant&intron_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|19/24|c.2396+8delG||||||,|splice_region_variant&intron_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|19/24|c.2264+8delG||||||,|splice_region_variant&intron_variant|LOW|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|20/23|n.*2272+8delG||||||,|splice_region_variant&intron_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|20/23|c.2264+8delG||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|25/25|c.2396+8delG||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|20/25|c.2396+8delG||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|22/25|c.2396+8delG||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|24/25|c.2396+8delG||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|19/25|c.2396+8delG||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|21/25|c.2396+8delG||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|23/25|c.2396+8delG||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|18/25|c.2396+8delG||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|20/25|c.2396+8delG||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|19/25|c.2396+8delG||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|21/25|c.2396+8delG||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|18/25|c.2396+8delG||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|17/25|c.2396+8delG||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|20/25|c.2396+8delG||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|16/25|c.2396+8delG||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|19/25|c.2396+8delG||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|21/25|c.2396+8delG||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|18/25|c.2396+8delG||||||,|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|15/20|c.1776-594delG|||||| 22 19344492 . G A . . ANN=A|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|19/25|c.2317C>T|p.Leu773Leu|2574/4053|2317/3054|773/1017||,A|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|19/25|c.2185C>T|p.Leu729Leu|2317/3436|2185/2922|729/973||,A|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|20/24|c.2185C>T|p.Leu729Leu|2475/2979|2185/2421|729/806||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|25/25|c.2317C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|20/25|c.2317C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|22/25|c.2317C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|24/25|c.2317C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|19/25|c.2317C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|21/25|c.2317C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|23/25|c.2317C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|18/25|c.2317C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|20/25|c.2317C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|19/25|c.2317C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|21/25|c.2317C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|18/25|c.2317C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|17/25|c.2317C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|20/25|c.2317C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|16/25|c.2317C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|19/25|c.2317C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|21/25|c.2317C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|18/25|c.2317C>T||||||,A|3_prime_UTR_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|20/24|n.*2193C>T|||||51601|,A|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|15/20|c.1776-681C>T||||||,A|non_coding_exon_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|20/24|n.*2193C>T|||||| 22 19344524 . G A . . ANN=A|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|19/25|c.2285C>T|p.Thr762Ile|2542/4053|2285/3054|762/1017||,A|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|19/25|c.2153C>T|p.Thr718Ile|2285/3436|2153/2922|718/973||,A|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|20/24|c.2153C>T|p.Thr718Ile|2443/2979|2153/2421|718/806||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|25/25|c.2285C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|20/25|c.2285C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|22/25|c.2285C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|24/25|c.2285C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|19/25|c.2285C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|21/25|c.2285C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|23/25|c.2285C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|18/25|c.2285C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|20/25|c.2285C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|19/25|c.2285C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|21/25|c.2285C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|18/25|c.2285C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|17/25|c.2285C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|20/25|c.2285C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|16/25|c.2285C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|19/25|c.2285C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|21/25|c.2285C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|18/25|c.2285C>T||||||,A|3_prime_UTR_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|20/24|n.*2161C>T|||||51569|,A|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|15/20|c.1776-713C>T||||||,A|non_coding_exon_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|20/24|n.*2161C>T|||||| 22 19346834 . C T . . ANN=T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|25/25|c.2234+25G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|20/25|c.2234+25G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|22/25|c.2234+25G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|24/25|c.2234+25G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|19/25|c.2234+25G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|21/25|c.2234+25G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|23/25|c.2234+25G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|18/25|c.2234+25G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|20/25|c.2234+25G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|19/25|c.2234+25G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|21/25|c.2234+25G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|18/25|c.2234+25G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|17/25|c.2234+25G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|20/25|c.2234+25G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|16/25|c.2234+25G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|19/25|c.2234+25G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|21/25|c.2234+25G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|18/25|c.2234+25G>A||||||,T|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|18/24|c.2234+25G>A||||||,T|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|15/20|c.1776-3023G>A||||||,T|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|18/24|c.2102+25G>A||||||,T|intron_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|19/23|n.*2110+25G>A||||||,T|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|19/23|c.2102+25G>A|||||| 22 19346835 . G A . . ANN=A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|25/25|c.2234+24C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|20/25|c.2234+24C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|22/25|c.2234+24C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|24/25|c.2234+24C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|19/25|c.2234+24C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|21/25|c.2234+24C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|23/25|c.2234+24C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|18/25|c.2234+24C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|20/25|c.2234+24C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|19/25|c.2234+24C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|21/25|c.2234+24C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|18/25|c.2234+24C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|17/25|c.2234+24C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|20/25|c.2234+24C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|16/25|c.2234+24C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|19/25|c.2234+24C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|21/25|c.2234+24C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|18/25|c.2234+24C>T||||||,A|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|18/24|c.2234+24C>T||||||,A|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|15/20|c.1776-3024C>T||||||,A|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|18/24|c.2102+24C>T||||||,A|intron_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|19/23|n.*2110+24C>T||||||,A|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|19/23|c.2102+24C>T|||||| 22 19346897 . C T . . ANN=T|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|18/25|c.2196G>A|p.Thr732Thr|2453/4053|2196/3054|732/1017||,T|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|18/25|c.2064G>A|p.Thr688Thr|2196/3436|2064/2922|688/973||,T|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|19/24|c.2064G>A|p.Thr688Thr|2354/2979|2064/2421|688/806||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|17/25|c.2196G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|20/25|c.2196G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|16/25|c.2196G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|19/25|c.2196G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|21/25|c.2196G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|18/25|c.2196G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|17/25|c.2196G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|16/25|c.2196G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|18/25|c.2196G>A||||||,T|3_prime_UTR_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|19/24|n.*2072G>A|||||49196|,T|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|15/20|c.1776-3086G>A||||||,T|non_coding_exon_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|19/24|n.*2072G>A|||||| 22 19347033 . G A . . ANN=A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|17/25|c.2086-26C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|20/25|c.2086-26C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|16/25|c.2086-26C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|19/25|c.2086-26C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|21/25|c.2086-26C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|18/25|c.2086-26C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|17/25|c.2086-26C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|16/25|c.2086-26C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|18/25|c.2086-26C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|15/25|c.2086-26C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|17/25|c.2086-26C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|16/25|c.2086-26C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|13/25|c.2086-26C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|12/25|c.2086-26C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|18/25|c.2086-26C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|14/25|c.2086-26C>T||||||,A|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|17/24|c.2086-26C>T||||||,A|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|15/20|c.1776-3222C>T||||||,A|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|17/24|c.1954-26C>T||||||,A|intron_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|18/23|n.*1962-26C>T||||||,A|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|18/23|c.1954-26C>T|||||| 22 19348891 . C A . . ANN=A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|17/25|c.1981-27G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|20/25|c.1981-27G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|16/25|c.1981-27G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|19/25|c.1981-27G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|21/25|c.1981-27G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|18/25|c.1981-27G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|17/25|c.1981-27G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|16/25|c.1981-27G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|18/25|c.1981-27G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|15/25|c.1981-27G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|17/25|c.1981-27G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|16/25|c.1981-27G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|13/25|c.1981-27G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|12/25|c.1981-27G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|18/25|c.1981-27G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|14/25|c.1981-27G>T||||||,A|upstream_gene_variant|MODIFIER|RN7SL168P|ENSG00000244296|transcript|ENST00000463821|misc_RNA||n.-1C>A|||||4398|,A|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|16/24|c.1981-27G>T||||||,A|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|15/20|c.1776-5080G>T||||||,A|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|16/24|c.1849-27G>T||||||,A|intron_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|17/23|n.*1857-27G>T||||||,A|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|17/23|c.1849-27G>T|||||| 22 19348896 . C T . . ANN=T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|17/25|c.1981-32G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|20/25|c.1981-32G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|16/25|c.1981-32G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|19/25|c.1981-32G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|21/25|c.1981-32G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|18/25|c.1981-32G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|17/25|c.1981-32G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|16/25|c.1981-32G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|18/25|c.1981-32G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|15/25|c.1981-32G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|17/25|c.1981-32G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|16/25|c.1981-32G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|13/25|c.1981-32G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|12/25|c.1981-32G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|18/25|c.1981-32G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|14/25|c.1981-32G>A||||||,T|upstream_gene_variant|MODIFIER|RN7SL168P|ENSG00000244296|transcript|ENST00000463821|misc_RNA||n.-1C>T|||||4393|,T|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|16/24|c.1981-32G>A||||||,T|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|15/20|c.1776-5085G>A||||||,T|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|16/24|c.1849-32G>A||||||,T|intron_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|17/23|n.*1857-32G>A||||||,T|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|17/23|c.1849-32G>A|||||| 22 19348905 . T G . . ANN=G|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|17/25|c.1981-41A>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|20/25|c.1981-41A>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|16/25|c.1981-41A>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|19/25|c.1981-41A>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|21/25|c.1981-41A>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|18/25|c.1981-41A>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|17/25|c.1981-41A>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|16/25|c.1981-41A>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|18/25|c.1981-41A>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|15/25|c.1981-41A>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|17/25|c.1981-41A>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|16/25|c.1981-41A>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|13/25|c.1981-41A>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|12/25|c.1981-41A>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|18/25|c.1981-41A>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|14/25|c.1981-41A>C||||||,G|upstream_gene_variant|MODIFIER|RN7SL168P|ENSG00000244296|transcript|ENST00000463821|misc_RNA||n.-1T>G|||||4384|,G|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|16/24|c.1981-41A>C||||||,G|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|15/20|c.1776-5094A>C||||||,G|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|16/24|c.1849-41A>C||||||,G|intron_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|17/23|n.*1857-41A>C||||||,G|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|17/23|c.1849-41A>C|||||| 22 19348906 . A G . . ANN=G|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|17/25|c.1981-42T>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|20/25|c.1981-42T>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|16/25|c.1981-42T>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|19/25|c.1981-42T>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|21/25|c.1981-42T>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|18/25|c.1981-42T>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|17/25|c.1981-42T>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|16/25|c.1981-42T>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|18/25|c.1981-42T>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|15/25|c.1981-42T>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|17/25|c.1981-42T>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|16/25|c.1981-42T>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|13/25|c.1981-42T>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|12/25|c.1981-42T>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|18/25|c.1981-42T>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|14/25|c.1981-42T>C||||||,G|upstream_gene_variant|MODIFIER|RN7SL168P|ENSG00000244296|transcript|ENST00000463821|misc_RNA||n.-1A>G|||||4383|,G|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|16/24|c.1981-42T>C||||||,G|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|15/20|c.1776-5095T>C||||||,G|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|16/24|c.1849-42T>C||||||,G|intron_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|17/23|n.*1857-42T>C||||||,G|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|17/23|c.1849-42T>C|||||| 22 19349202 . G A . . ANN=A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|17/25|c.1980+48C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|20/25|c.1980+48C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|16/25|c.1980+48C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|19/25|c.1980+48C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|21/25|c.1980+48C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|18/25|c.1980+48C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|17/25|c.1980+48C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|16/25|c.1980+48C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|18/25|c.1980+48C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|15/25|c.1980+48C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|17/25|c.1980+48C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|16/25|c.1980+48C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|13/25|c.1980+48C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|12/25|c.1980+48C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|18/25|c.1980+48C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|14/25|c.1980+48C>T||||||,A|upstream_gene_variant|MODIFIER|RN7SL168P|ENSG00000244296|transcript|ENST00000463821|misc_RNA||n.-1G>A|||||4087|,A|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|16/24|c.1980+48C>T||||||,A|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|15/20|c.1776-5391C>T||||||,A|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|16/24|c.1848+48C>T||||||,A|intron_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|17/23|n.*1856+48C>T||||||,A|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|17/23|c.1848+48C>T|||||| 22 19349298 . C A . . ANN=A|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|16/25|c.1932G>T|p.Gly644Gly|2189/4053|1932/3054|644/1017||,A|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|16/25|c.1800G>T|p.Gly600Gly|1932/3436|1800/2922|600/973||,A|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|17/24|c.1800G>T|p.Gly600Gly|2090/2979|1800/2421|600/806||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|17/25|c.1932G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|20/25|c.1932G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|16/25|c.1932G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|19/25|c.1932G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|21/25|c.1932G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|18/25|c.1932G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|17/25|c.1932G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|16/25|c.1932G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|18/25|c.1932G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|15/25|c.1932G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|17/25|c.1932G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|16/25|c.1932G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|13/25|c.1932G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|12/25|c.1932G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|18/25|c.1932G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|14/25|c.1932G>T||||||,A|3_prime_UTR_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|17/24|n.*1808G>T|||||46795|,A|upstream_gene_variant|MODIFIER|RN7SL168P|ENSG00000244296|transcript|ENST00000463821|misc_RNA||n.-1C>A|||||3991|,A|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|15/20|c.1776-5487G>T||||||,A|non_coding_exon_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|17/24|n.*1808G>T|||||| 22 19349416 . C T . . ANN=T|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|16/25|c.1814G>A|p.Arg605Gln|2071/4053|1814/3054|605/1017||,T|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|16/25|c.1682G>A|p.Arg561Gln|1814/3436|1682/2922|561/973||,T|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|17/24|c.1682G>A|p.Arg561Gln|1972/2979|1682/2421|561/806||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|17/25|c.1814G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|20/25|c.1814G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|16/25|c.1814G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|19/25|c.1814G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|21/25|c.1814G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|18/25|c.1814G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|17/25|c.1814G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|16/25|c.1814G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|18/25|c.1814G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|15/25|c.1814G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|17/25|c.1814G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|16/25|c.1814G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|13/25|c.1814G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|12/25|c.1814G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|18/25|c.1814G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|14/25|c.1814G>A||||||,T|3_prime_UTR_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|17/24|n.*1690G>A|||||46677|,T|upstream_gene_variant|MODIFIER|RN7SL168P|ENSG00000244296|transcript|ENST00000463821|misc_RNA||n.-1C>T|||||3873|,T|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|15/20|c.1776-5605G>A||||||,T|non_coding_exon_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|17/24|n.*1690G>A|||||| 22 19349470 . A G . . ANN=G|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|15/25|c.1776-16T>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|17/25|c.1776-16T>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|16/25|c.1776-16T>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|13/25|c.1776-16T>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|12/25|c.1776-16T>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|18/25|c.1776-16T>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|14/25|c.1776-16T>C||||||,G|upstream_gene_variant|MODIFIER|RN7SL168P|ENSG00000244296|transcript|ENST00000463821|misc_RNA||n.-1A>G|||||3819|,G|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|15/24|c.1776-16T>C||||||,G|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|15/20|c.1776-5659T>C||||||,G|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|15/24|c.1644-16T>C||||||,G|intron_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|16/23|n.*1652-16T>C||||||,G|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|16/23|c.1644-16T>C|||||| 22 19363188 . C T . . ANN=T|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|15/25|c.1741G>A|p.Ala581Thr|1998/4053|1741/3054|581/1017||,T|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|15/21|c.1741G>A|p.Ala581Thr|1961/3395|1741/2433|581/810||,T|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|15/25|c.1609G>A|p.Ala537Thr|1741/3436|1609/2922|537/973||,T|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|16/24|c.1609G>A|p.Ala537Thr|1899/2979|1609/2421|537/806||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|15/25|c.1741G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|17/25|c.1741G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|16/25|c.1741G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|13/25|c.1741G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|12/25|c.1741G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|18/25|c.1741G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|14/25|c.1741G>A||||||,T|3_prime_UTR_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|16/24|n.*1617G>A|||||32905|,T|non_coding_exon_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|16/24|n.*1617G>A|||||| 22 19363213 . C G . . ANN=G|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|15/25|c.1716G>C|p.Arg572Arg|1973/4053|1716/3054|572/1017||,G|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|15/21|c.1716G>C|p.Arg572Arg|1936/3395|1716/2433|572/810||,G|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|15/25|c.1584G>C|p.Arg528Arg|1716/3436|1584/2922|528/973||,G|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|16/24|c.1584G>C|p.Arg528Arg|1874/2979|1584/2421|528/806||,G|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|15/25|c.1716G>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|17/25|c.1716G>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|16/25|c.1716G>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|13/25|c.1716G>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|12/25|c.1716G>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|18/25|c.1716G>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|14/25|c.1716G>C||||||,G|3_prime_UTR_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|16/24|n.*1592G>C|||||32880|,G|non_coding_exon_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|16/24|n.*1592G>C|||||| 22 19365428 . C A . . ANN=A|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|14/25|c.1577G>T|p.Ser526Ile|1834/4053|1577/3054|526/1017||,A|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|14/21|c.1577G>T|p.Ser526Ile|1797/3395|1577/2433|526/810||,A|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|14/25|c.1445G>T|p.Ser482Ile|1577/3436|1445/2922|482/973||,A|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|15/24|c.1445G>T|p.Ser482Ile|1735/2979|1445/2421|482/806||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|15/25|c.1577G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|17/25|c.1577G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|16/25|c.1577G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|13/25|c.1577G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|12/25|c.1577G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|18/25|c.1577G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|14/25|c.1577G>T||||||,A|3_prime_UTR_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|15/24|n.*1453G>T|||||30665|,A|non_coding_exon_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|15/24|n.*1453G>T|||||| 22 19365466 . G A . . ANN=A|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|14/25|c.1539C>T|p.Gly513Gly|1796/4053|1539/3054|513/1017||,A|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|14/21|c.1539C>T|p.Gly513Gly|1759/3395|1539/2433|513/810||,A|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|14/25|c.1407C>T|p.Gly469Gly|1539/3436|1407/2922|469/973||,A|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|15/24|c.1407C>T|p.Gly469Gly|1697/2979|1407/2421|469/806||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|15/25|c.1539C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|17/25|c.1539C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|16/25|c.1539C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|13/25|c.1539C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|12/25|c.1539C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|18/25|c.1539C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|14/25|c.1539C>T||||||,A|3_prime_UTR_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|15/24|n.*1415C>T|||||30627|,A|non_coding_exon_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|15/24|n.*1415C>T|||||| 22 19365526 . G C . . ANN=C|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|14/25|c.1479C>G|p.Leu493Leu|1736/4053|1479/3054|493/1017||,C|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|14/21|c.1479C>G|p.Leu493Leu|1699/3395|1479/2433|493/810||,C|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|14/25|c.1347C>G|p.Leu449Leu|1479/3436|1347/2922|449/973||,C|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|15/24|c.1347C>G|p.Leu449Leu|1637/2979|1347/2421|449/806||,C|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|15/25|c.1479C>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|17/25|c.1479C>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|16/25|c.1479C>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|13/25|c.1479C>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|12/25|c.1479C>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|18/25|c.1479C>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|14/25|c.1479C>G||||||,C|3_prime_UTR_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|15/24|n.*1355C>G|||||30567|,C|non_coding_exon_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|15/24|n.*1355C>G|||||| 22 19365538 . C T . . ANN=T|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|14/25|c.1467G>A|p.Ala489Ala|1724/4053|1467/3054|489/1017||,T|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|14/21|c.1467G>A|p.Ala489Ala|1687/3395|1467/2433|489/810||,T|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|14/25|c.1335G>A|p.Ala445Ala|1467/3436|1335/2922|445/973||,T|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|15/24|c.1335G>A|p.Ala445Ala|1625/2979|1335/2421|445/806||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|15/25|c.1467G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|17/25|c.1467G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|16/25|c.1467G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|13/25|c.1467G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|12/25|c.1467G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|18/25|c.1467G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|14/25|c.1467G>A||||||,T|3_prime_UTR_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|15/24|n.*1343G>A|||||30555|,T|non_coding_exon_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|15/24|n.*1343G>A|||||| 22 19365597 . CAAGT C . . ANN=|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|15/25|c.1416-12_1416-9delACTT||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|17/25|c.1416-12_1416-9delACTT||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|16/25|c.1416-12_1416-9delACTT||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|13/25|c.1416-12_1416-9delACTT||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|12/25|c.1416-12_1416-9delACTT||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|18/25|c.1416-12_1416-9delACTT||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|14/25|c.1416-12_1416-9delACTT||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_ASF1A|ENST00000263208|protein_coding|13/25|c.1416-12_1416-9delACTT||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_ASF1A|ENST00000263208|protein_coding|12/25|c.1416-12_1416-9delACTT||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_ASF1A|ENST00000263208|protein_coding|14/25|c.1416-12_1416-9delACTT||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|region_of_interest:Required_for_repression_of_histone_gene_transcription|ENST00000263208|protein_coding|13/25|c.1416-12_1416-9delACTT||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|region_of_interest:Required_for_repression_of_histone_gene_transcription|ENST00000263208|protein_coding|12/25|c.1416-12_1416-9delACTT||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|region_of_interest:Required_for_repression_of_histone_gene_transcription|ENST00000263208|protein_coding|14/25|c.1416-12_1416-9delACTT||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_ASF1A|ENST00000340170|protein_coding|13/21|c.1416-12_1416-9delACTT||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_ASF1A|ENST00000340170|protein_coding|12/21|c.1416-12_1416-9delACTT||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_ASF1A|ENST00000340170|protein_coding|14/21|c.1416-12_1416-9delACTT||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|region_of_interest:Required_for_repression_of_histone_gene_transcription|ENST00000340170|protein_coding|13/21|c.1416-12_1416-9delACTT||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|region_of_interest:Required_for_repression_of_histone_gene_transcription|ENST00000340170|protein_coding|12/21|c.1416-12_1416-9delACTT||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|region_of_interest:Required_for_repression_of_histone_gene_transcription|ENST00000340170|protein_coding|14/21|c.1416-12_1416-9delACTT||||||,|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|13/24|c.1416-12_1416-9delACTT||||||,|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|13/20|c.1416-12_1416-9delACTT||||||,|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|13/24|c.1284-12_1284-9delACTT||||||,|intron_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|14/23|n.*1292-12_*1292-9delACTT||||||,|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|14/23|c.1284-12_1284-9delACTT|||||| 22 19371166 . G A . . ANN=A|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|13/25|c.1392C>T|p.Leu464Leu|1649/4053|1392/3054|464/1017||,A|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|13/21|c.1392C>T|p.Leu464Leu|1612/3395|1392/2433|464/810||,A|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|13/25|c.1260C>T|p.Leu420Leu|1392/3436|1260/2922|420/973||,A|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|14/24|c.1260C>T|p.Leu420Leu|1550/2979|1260/2421|420/806||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|15/25|c.1392C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|17/25|c.1392C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|16/25|c.1392C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|13/25|c.1392C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|12/25|c.1392C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|18/25|c.1392C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|14/25|c.1392C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_ASF1A|ENST00000263208|protein_coding|13/25|c.1392C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_ASF1A|ENST00000263208|protein_coding|12/25|c.1392C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_ASF1A|ENST00000263208|protein_coding|14/25|c.1392C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|region_of_interest:Required_for_repression_of_histone_gene_transcription|ENST00000263208|protein_coding|13/25|c.1392C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|region_of_interest:Required_for_repression_of_histone_gene_transcription|ENST00000263208|protein_coding|12/25|c.1392C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|region_of_interest:Required_for_repression_of_histone_gene_transcription|ENST00000263208|protein_coding|14/25|c.1392C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_ASF1A|ENST00000340170|protein_coding|13/21|c.1392C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_ASF1A|ENST00000340170|protein_coding|12/21|c.1392C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_ASF1A|ENST00000340170|protein_coding|14/21|c.1392C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|region_of_interest:Required_for_repression_of_histone_gene_transcription|ENST00000340170|protein_coding|13/21|c.1392C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|region_of_interest:Required_for_repression_of_histone_gene_transcription|ENST00000340170|protein_coding|12/21|c.1392C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|region_of_interest:Required_for_repression_of_histone_gene_transcription|ENST00000340170|protein_coding|14/21|c.1392C>T||||||,A|3_prime_UTR_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|14/24|n.*1268C>T|||||24927|,A|non_coding_exon_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|14/24|n.*1268C>T|||||| 22 19373016 . C T . . ANN=T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|15/25|c.1329+28G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|17/25|c.1329+28G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|16/25|c.1329+28G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|13/25|c.1329+28G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|12/25|c.1329+28G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|18/25|c.1329+28G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|14/25|c.1329+28G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_ASF1A|ENST00000263208|protein_coding|13/25|c.1329+28G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_ASF1A|ENST00000263208|protein_coding|12/25|c.1329+28G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_ASF1A|ENST00000263208|protein_coding|14/25|c.1329+28G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|region_of_interest:Required_for_repression_of_histone_gene_transcription|ENST00000263208|protein_coding|13/25|c.1329+28G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|region_of_interest:Required_for_repression_of_histone_gene_transcription|ENST00000263208|protein_coding|12/25|c.1329+28G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|region_of_interest:Required_for_repression_of_histone_gene_transcription|ENST00000263208|protein_coding|14/25|c.1329+28G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_ASF1A|ENST00000340170|protein_coding|13/21|c.1329+28G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_ASF1A|ENST00000340170|protein_coding|12/21|c.1329+28G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_ASF1A|ENST00000340170|protein_coding|14/21|c.1329+28G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|region_of_interest:Required_for_repression_of_histone_gene_transcription|ENST00000340170|protein_coding|13/21|c.1329+28G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|region_of_interest:Required_for_repression_of_histone_gene_transcription|ENST00000340170|protein_coding|12/21|c.1329+28G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|region_of_interest:Required_for_repression_of_histone_gene_transcription|ENST00000340170|protein_coding|14/21|c.1329+28G>A||||||,T|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|12/24|c.1329+28G>A||||||,T|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|12/20|c.1329+28G>A||||||,T|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|12/24|c.1197+28G>A||||||,T|intron_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|13/23|n.*1205+28G>A||||||,T|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|13/23|c.1197+28G>A|||||| 22 19373080 . G A . . ANN=A|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|12/25|c.1293C>T|p.Gly431Gly|1550/4053|1293/3054|431/1017||,A|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|12/21|c.1293C>T|p.Gly431Gly|1513/3395|1293/2433|431/810||,A|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|12/25|c.1161C>T|p.Gly387Gly|1293/3436|1161/2922|387/973||,A|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|13/24|c.1161C>T|p.Gly387Gly|1451/2979|1161/2421|387/806||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|15/25|c.1293C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|17/25|c.1293C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|16/25|c.1293C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|13/25|c.1293C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|12/25|c.1293C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|18/25|c.1293C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|14/25|c.1293C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_ASF1A|ENST00000263208|protein_coding|13/25|c.1293C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_ASF1A|ENST00000263208|protein_coding|12/25|c.1293C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_ASF1A|ENST00000263208|protein_coding|14/25|c.1293C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_ASF1A|ENST00000340170|protein_coding|13/21|c.1293C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_ASF1A|ENST00000340170|protein_coding|12/21|c.1293C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_ASF1A|ENST00000340170|protein_coding|14/21|c.1293C>T||||||,A|3_prime_UTR_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|13/24|n.*1169C>T|||||23013|,A|non_coding_exon_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|13/24|n.*1169C>T|||||| 22 19373100 . A T . . ANN=T|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|12/25|c.1273T>A|p.Ser425Thr|1530/4053|1273/3054|425/1017||,T|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|12/21|c.1273T>A|p.Ser425Thr|1493/3395|1273/2433|425/810||,T|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|12/25|c.1141T>A|p.Ser381Thr|1273/3436|1141/2922|381/973||,T|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|13/24|c.1141T>A|p.Ser381Thr|1431/2979|1141/2421|381/806||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|15/25|c.1273T>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|17/25|c.1273T>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|16/25|c.1273T>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|13/25|c.1273T>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|12/25|c.1273T>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|18/25|c.1273T>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|14/25|c.1273T>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_ASF1A|ENST00000263208|protein_coding|13/25|c.1273T>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_ASF1A|ENST00000263208|protein_coding|12/25|c.1273T>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_ASF1A|ENST00000263208|protein_coding|14/25|c.1273T>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_ASF1A|ENST00000340170|protein_coding|13/21|c.1273T>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_ASF1A|ENST00000340170|protein_coding|12/21|c.1273T>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_ASF1A|ENST00000340170|protein_coding|14/21|c.1273T>A||||||,T|3_prime_UTR_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|13/24|n.*1149T>A|||||22993|,T|non_coding_exon_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|13/24|n.*1149T>A|||||| 22 19373191 . G A . . ANN=A|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|12/25|c.1182C>T|p.Ala394Ala|1439/4053|1182/3054|394/1017||,A|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|12/21|c.1182C>T|p.Ala394Ala|1402/3395|1182/2433|394/810||,A|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|12/25|c.1050C>T|p.Ala350Ala|1182/3436|1050/2922|350/973||,A|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|13/24|c.1050C>T|p.Ala350Ala|1340/2979|1050/2421|350/806||,A|3_prime_UTR_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|13/24|n.*1058C>T|||||22902|,A|non_coding_exon_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|13/24|n.*1058C>T|||||| 22 19373296 . A C . . ANN=C|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|11/24|c.1114-37T>G||||||,C|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|11/20|c.1114-37T>G||||||,C|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|11/24|c.982-37T>G||||||,C|intron_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|12/23|n.*990-37T>G||||||,C|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|12/23|c.982-37T>G|||||| 22 19375217 . A G . . ANN=G|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|11/24|c.1113+17T>C||||||,G|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|11/20|c.1113+17T>C||||||,G|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|11/24|c.981+17T>C||||||,G|intron_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|12/23|n.*989+17T>C||||||,G|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|12/23|c.981+17T>C|||||| 22 19375282 . G C . . ANN=C|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|11/25|c.1065C>G|p.Leu355Leu|1322/4053|1065/3054|355/1017||,C|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|11/21|c.1065C>G|p.Leu355Leu|1285/3395|1065/2433|355/810||,C|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|11/25|c.933C>G|p.Leu311Leu|1065/3436|933/2922|311/973||,C|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|12/24|c.933C>G|p.Leu311Leu|1223/2979|933/2421|311/806||,C|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_7|ENST00000263208|protein_coding|10/25|c.1065C>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_7|ENST00000263208|protein_coding|11/25|c.1065C>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_7|ENST00000340170|protein_coding|11/21|c.1065C>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_7|ENST00000340170|protein_coding|10/21|c.1065C>G||||||,C|3_prime_UTR_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|12/24|n.*941C>G|||||20811|,C|non_coding_exon_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|12/24|n.*941C>G|||||| 22 19375978 . C T . . ANN=T|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_7|ENST00000263208|protein_coding|10/25|c.1007+29G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_7|ENST00000263208|protein_coding|11/25|c.1007+29G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_7|ENST00000340170|protein_coding|11/21|c.1007+29G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_7|ENST00000340170|protein_coding|10/21|c.1007+29G>A||||||,T|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|10/24|c.1007+29G>A||||||,T|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|10/20|c.1007+29G>A||||||,T|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|10/24|c.875+29G>A||||||,T|intron_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|11/23|n.*883+29G>A||||||,T|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|11/23|c.875+29G>A|||||| 22 19376062 . G A . . ANN=A|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|10/25|c.952C>T|p.Arg318Trp|1209/4053|952/3054|318/1017||,A|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|10/21|c.952C>T|p.Arg318Trp|1172/3395|952/2433|318/810||,A|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|10/25|c.820C>T|p.Arg274Trp|952/3436|820/2922|274/973||,A|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|11/24|c.820C>T|p.Arg274Trp|1110/2979|820/2421|274/806||,A|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_6|ENST00000263208|protein_coding|10/25|c.952C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_6|ENST00000263208|protein_coding|8/25|c.952C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_6|ENST00000263208|protein_coding|9/25|c.952C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_6|ENST00000340170|protein_coding|10/21|c.952C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_6|ENST00000340170|protein_coding|9/21|c.952C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_6|ENST00000340170|protein_coding|8/21|c.952C>T||||||,A|3_prime_UTR_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|11/24|n.*828C>T|||||20031|,A|non_coding_exon_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|11/24|n.*828C>T|||||| 22 19376123 . C T . . ANN=T|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_6|ENST00000263208|protein_coding|10/25|c.937-46G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_6|ENST00000263208|protein_coding|8/25|c.937-46G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_6|ENST00000263208|protein_coding|9/25|c.937-46G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_6|ENST00000340170|protein_coding|10/21|c.937-46G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_6|ENST00000340170|protein_coding|9/21|c.937-46G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_6|ENST00000340170|protein_coding|8/21|c.937-46G>A||||||,T|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|9/24|c.937-46G>A||||||,T|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|9/20|c.937-46G>A||||||,T|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|9/24|c.805-46G>A||||||,T|intron_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|10/23|n.*813-46G>A||||||,T|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|10/23|c.805-46G>A|||||| 22 19376124 . C T . . ANN=T|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_6|ENST00000263208|protein_coding|10/25|c.937-47G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_6|ENST00000263208|protein_coding|8/25|c.937-47G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_6|ENST00000263208|protein_coding|9/25|c.937-47G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_6|ENST00000340170|protein_coding|10/21|c.937-47G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_6|ENST00000340170|protein_coding|9/21|c.937-47G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_6|ENST00000340170|protein_coding|8/21|c.937-47G>A||||||,T|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|9/24|c.937-47G>A||||||,T|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|9/20|c.937-47G>A||||||,T|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|9/24|c.805-47G>A||||||,T|intron_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|10/23|n.*813-47G>A||||||,T|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|10/23|c.805-47G>A|||||| 22 19379574 . C T . . ANN=T|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_6|ENST00000263208|protein_coding|10/25|c.936+50G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_6|ENST00000263208|protein_coding|8/25|c.936+50G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_6|ENST00000263208|protein_coding|9/25|c.936+50G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_6|ENST00000340170|protein_coding|10/21|c.936+50G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_6|ENST00000340170|protein_coding|9/21|c.936+50G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_6|ENST00000340170|protein_coding|8/21|c.936+50G>A||||||,T|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|9/24|c.936+50G>A||||||,T|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|9/20|c.936+50G>A||||||,T|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|9/24|c.804+50G>A||||||,T|intron_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|10/23|n.*812+50G>A||||||,T|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|10/23|c.804+50G>A|||||| 22 19379617 . G C . . ANN=C|splice_region_variant&intron_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|9/24|c.936+7C>G||||||,C|splice_region_variant&intron_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|9/20|c.936+7C>G||||||,C|splice_region_variant&intron_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|9/24|c.804+7C>G||||||,C|splice_region_variant&intron_variant|LOW|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|10/23|n.*812+7C>G||||||,C|splice_region_variant&intron_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|10/23|c.804+7C>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_6|ENST00000263208|protein_coding|10/25|c.936+7C>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_6|ENST00000263208|protein_coding|8/25|c.936+7C>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_6|ENST00000263208|protein_coding|9/25|c.936+7C>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_6|ENST00000340170|protein_coding|10/21|c.936+7C>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_6|ENST00000340170|protein_coding|9/21|c.936+7C>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_6|ENST00000340170|protein_coding|8/21|c.936+7C>G|||||| 22 19381922 . C T . . ANN=T|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|8/25|c.765G>A|p.Arg255Arg|1022/4053|765/3054|255/1017||,T|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|8/21|c.765G>A|p.Arg255Arg|985/3395|765/2433|255/810||,T|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|8/25|c.633G>A|p.Arg211Arg|765/3436|633/2922|211/973||,T|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|9/24|c.633G>A|p.Arg211Arg|923/2979|633/2421|211/806||,T|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_5|ENST00000263208|protein_coding|8/25|c.765G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_5|ENST00000340170|protein_coding|8/21|c.765G>A||||||,T|3_prime_UTR_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|9/24|n.*641G>A|||||14171|,T|downstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000464189|processed_transcript||n.*560G>A|||||3662|,T|downstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000452818|nonsense_mediated_decay||n.*160G>A|||||3669|,T|non_coding_exon_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|9/24|n.*641G>A|||||| 22 19384355 . C T . . ANN=T|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|7/25|c.609G>A|p.Thr203Thr|866/4053|609/3054|203/1017||,T|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|7/21|c.609G>A|p.Thr203Thr|829/3395|609/2433|203/810||,T|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|7/25|c.477G>A|p.Thr159Thr|609/3436|477/2922|159/973||,T|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|8/24|c.477G>A|p.Thr159Thr|767/2979|477/2421|159/806||,T|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_4|ENST00000263208|protein_coding|7/25|c.609G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_4|ENST00000340170|protein_coding|7/21|c.609G>A||||||,T|3_prime_UTR_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|8/24|n.*485G>A|||||11738|,T|downstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000464189|processed_transcript||n.*560G>A|||||1229|,T|downstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000452818|nonsense_mediated_decay||n.*160G>A|||||1236|,T|non_coding_exon_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|8/24|n.*485G>A|||||| 22 19384377 . C T . . ANN=T|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|7/25|c.587G>A|p.Arg196His|844/4053|587/3054|196/1017||,T|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|7/21|c.587G>A|p.Arg196His|807/3395|587/2433|196/810||,T|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|7/25|c.455G>A|p.Arg152His|587/3436|455/2922|152/973||,T|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|8/24|c.455G>A|p.Arg152His|745/2979|455/2421|152/806||,T|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_4|ENST00000263208|protein_coding|7/25|c.587G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_4|ENST00000340170|protein_coding|7/21|c.587G>A||||||,T|3_prime_UTR_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|8/24|n.*463G>A|||||11716|,T|downstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000464189|processed_transcript||n.*560G>A|||||1207|,T|downstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000452818|nonsense_mediated_decay||n.*160G>A|||||1214|,T|non_coding_exon_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|8/24|n.*463G>A|||||| 22 19384439 . G A . . ANN=A|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|7/25|c.525C>T|p.Gly175Gly|782/4053|525/3054|175/1017||,A|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|7/21|c.525C>T|p.Gly175Gly|745/3395|525/2433|175/810||,A|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|7/25|c.393C>T|p.Gly131Gly|525/3436|393/2922|131/973||,A|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|8/24|c.393C>T|p.Gly131Gly|683/2979|393/2421|131/806||,A|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_4|ENST00000263208|protein_coding|7/25|c.525C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_4|ENST00000340170|protein_coding|7/21|c.525C>T||||||,A|3_prime_UTR_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|8/24|n.*401C>T|||||11654|,A|downstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000464189|processed_transcript||n.*560C>T|||||1145|,A|downstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000452818|nonsense_mediated_decay||n.*160C>T|||||1152|,A|non_coding_exon_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|8/24|n.*401C>T|||||| 22 19385634 . G A . . ANN=A|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_3|ENST00000263208|protein_coding|7/25|c.398-24C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_3|ENST00000263208|protein_coding|6/25|c.398-24C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_3|ENST00000263208|protein_coding|5/25|c.398-24C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_3|ENST00000340170|protein_coding|7/21|c.398-24C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_3|ENST00000340170|protein_coding|6/21|c.398-24C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_3|ENST00000340170|protein_coding|5/21|c.398-24C>T||||||,A|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|5/24|c.398-24C>T||||||,A|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|5/20|c.398-24C>T||||||,A|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|5/24|c.266-24C>T||||||,A|intron_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|6/23|n.*274-24C>T||||||,A|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|6/23|c.266-24C>T||||||,A|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000464189|processed_transcript|5/5|n.534-24C>T||||||,A|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000452818|nonsense_mediated_decay|5/5|n.*274-24C>T|||||| 22 19385645 . T C . . ANN=C|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_3|ENST00000263208|protein_coding|7/25|c.398-35A>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_3|ENST00000263208|protein_coding|6/25|c.398-35A>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_3|ENST00000263208|protein_coding|5/25|c.398-35A>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_3|ENST00000340170|protein_coding|7/21|c.398-35A>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_3|ENST00000340170|protein_coding|6/21|c.398-35A>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_3|ENST00000340170|protein_coding|5/21|c.398-35A>G||||||,C|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|5/24|c.398-35A>G||||||,C|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|5/20|c.398-35A>G||||||,C|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|5/24|c.266-35A>G||||||,C|intron_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|6/23|n.*274-35A>G||||||,C|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|6/23|c.266-35A>G||||||,C|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000464189|processed_transcript|5/5|n.534-35A>G||||||,C|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000452818|nonsense_mediated_decay|5/5|n.*274-35A>G|||||| 22 19385660 . T C . . ANN=C|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_3|ENST00000263208|protein_coding|7/25|c.398-50A>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_3|ENST00000263208|protein_coding|6/25|c.398-50A>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_3|ENST00000263208|protein_coding|5/25|c.398-50A>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_3|ENST00000340170|protein_coding|7/21|c.398-50A>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_3|ENST00000340170|protein_coding|6/21|c.398-50A>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_3|ENST00000340170|protein_coding|5/21|c.398-50A>G||||||,C|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|5/24|c.398-50A>G||||||,C|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|5/20|c.398-50A>G||||||,C|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|5/24|c.266-50A>G||||||,C|intron_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|6/23|n.*274-50A>G||||||,C|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|6/23|c.266-50A>G||||||,C|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000464189|processed_transcript|5/5|n.534-50A>G||||||,C|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000452818|nonsense_mediated_decay|5/5|n.*274-50A>G|||||| 22 19394675 . A G . . ANN=G|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_2|ENST00000263208|protein_coding|4/25|c.302+32T>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_2|ENST00000263208|protein_coding|5/25|c.302+32T>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_2|ENST00000263208|protein_coding|3/25|c.302+32T>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_2|ENST00000340170|protein_coding|4/21|c.302+32T>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_2|ENST00000340170|protein_coding|5/21|c.302+32T>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_2|ENST00000340170|protein_coding|3/21|c.302+32T>C||||||,G|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|4/24|c.302+32T>C||||||,G|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|4/20|c.302+32T>C||||||,G|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|4/24|c.170+32T>C||||||,G|intron_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|5/23|n.*178+32T>C||||||,G|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|5/23|c.170+32T>C||||||,G|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000464189|processed_transcript|4/5|n.438+32T>C||||||,G|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000452818|nonsense_mediated_decay|4/5|n.*178+32T>C|||||| 22 19394689 . A G . . ANN=G|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_2|ENST00000263208|protein_coding|4/25|c.302+18T>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_2|ENST00000263208|protein_coding|5/25|c.302+18T>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_2|ENST00000263208|protein_coding|3/25|c.302+18T>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_2|ENST00000340170|protein_coding|4/21|c.302+18T>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_2|ENST00000340170|protein_coding|5/21|c.302+18T>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_2|ENST00000340170|protein_coding|3/21|c.302+18T>C||||||,G|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|4/24|c.302+18T>C||||||,G|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|4/20|c.302+18T>C||||||,G|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|4/24|c.170+18T>C||||||,G|intron_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|5/23|n.*178+18T>C||||||,G|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|5/23|c.170+18T>C||||||,G|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000464189|processed_transcript|4/5|n.438+18T>C||||||,G|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000452818|nonsense_mediated_decay|4/5|n.*178+18T>C|||||| 22 19394805 . G GA . . ANN=A|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_2|ENST00000263208|protein_coding|4/25|c.212-9dupT||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_2|ENST00000263208|protein_coding|5/25|c.212-9dupT||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_2|ENST00000263208|protein_coding|3/25|c.212-9dupT||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_2|ENST00000340170|protein_coding|4/21|c.212-9dupT||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_2|ENST00000340170|protein_coding|5/21|c.212-9dupT||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_2|ENST00000340170|protein_coding|3/21|c.212-9dupT||||||,A|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|3/24|c.212-9dupT||||||,A|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|3/20|c.212-9dupT||||||,A|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|3/24|c.80-9dupT||||||,A|intron_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|4/23|n.*88-9dupT||||||,A|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|4/23|c.80-9dupT||||||,A|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000464189|processed_transcript|3/5|n.348-9dupT||||||,A|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000452818|nonsense_mediated_decay|3/5|n.*88-9dupT|||||| 22 19394830 . C G . . ANN=G|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_2|ENST00000263208|protein_coding|4/25|c.212-33G>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_2|ENST00000263208|protein_coding|5/25|c.212-33G>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_2|ENST00000263208|protein_coding|3/25|c.212-33G>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_2|ENST00000340170|protein_coding|4/21|c.212-33G>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_2|ENST00000340170|protein_coding|5/21|c.212-33G>C||||||,G|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_2|ENST00000340170|protein_coding|3/21|c.212-33G>C||||||,G|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|3/24|c.212-33G>C||||||,G|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|3/20|c.212-33G>C||||||,G|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|3/24|c.80-33G>C||||||,G|intron_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|4/23|n.*88-33G>C||||||,G|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|4/23|c.80-33G>C||||||,G|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000464189|processed_transcript|3/5|n.348-33G>C||||||,G|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000452818|nonsense_mediated_decay|3/5|n.*88-33G>C|||||| 22 19398310 . AAAG A . . ANN=|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_1|ENST00000263208|protein_coding|2/25|c.38-12_38-10delCTT||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_1|ENST00000263208|protein_coding|1/25|c.38-12_38-10delCTT||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_1|ENST00000263208|protein_coding|3/25|c.38-12_38-10delCTT||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_1|ENST00000340170|protein_coding|2/21|c.38-12_38-10delCTT||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_1|ENST00000340170|protein_coding|3/21|c.38-12_38-10delCTT||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_1|ENST00000340170|protein_coding|1/21|c.38-12_38-10delCTT||||||,|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|1/24|c.38-12_38-10delCTT||||||,|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|1/20|c.38-12_38-10delCTT||||||,|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|1/24|c.-95-12_-95-10delCTT||||||,|intron_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|2/23|n.193-12_193-10delCTT||||||,|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|2/23|c.-95-12_-95-10delCTT||||||,|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000464189|processed_transcript|1/5|n.174-12_174-10delCTT||||||,|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000452818|nonsense_mediated_decay|1/5|n.73-12_73-10delCTT|||||| 22 19398311 . AAG A . . ANN=|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_1|ENST00000263208|protein_coding|2/25|c.38-12_38-11delCT||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_1|ENST00000263208|protein_coding|1/25|c.38-12_38-11delCT||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_1|ENST00000263208|protein_coding|3/25|c.38-12_38-11delCT||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_1|ENST00000340170|protein_coding|2/21|c.38-12_38-11delCT||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_1|ENST00000340170|protein_coding|3/21|c.38-12_38-11delCT||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_1|ENST00000340170|protein_coding|1/21|c.38-12_38-11delCT||||||,|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|1/24|c.38-12_38-11delCT||||||,|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|1/20|c.38-12_38-11delCT||||||,|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|1/24|c.-95-12_-95-11delCT||||||,|intron_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|2/23|n.193-12_193-11delCT||||||,|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|2/23|c.-95-12_-95-11delCT||||||,|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000464189|processed_transcript|1/5|n.174-12_174-11delCT||||||,|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000452818|nonsense_mediated_decay|1/5|n.73-12_73-11delCT|||||| 22 19398312 . AG A . . ANN=|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_1|ENST00000263208|protein_coding|2/25|c.38-12delC||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_1|ENST00000263208|protein_coding|1/25|c.38-12delC||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_1|ENST00000263208|protein_coding|3/25|c.38-12delC||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_1|ENST00000340170|protein_coding|2/21|c.38-12delC||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_1|ENST00000340170|protein_coding|3/21|c.38-12delC||||||,|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_1|ENST00000340170|protein_coding|1/21|c.38-12delC||||||,|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|1/24|c.38-12delC||||||,|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|1/20|c.38-12delC||||||,|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|1/24|c.-95-12delC||||||,|intron_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|2/23|n.193-12delC||||||,|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|2/23|c.-95-12delC||||||,|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000464189|processed_transcript|1/5|n.174-12delC||||||,|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000452818|nonsense_mediated_decay|1/5|n.73-12delC|||||| 22 19418979 . G A . . ANN=A|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|1/25|c.21C>T|p.Thr7Thr|278/4053|21/3054|7/1017||,A|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|1/21|c.21C>T|p.Thr7Thr|241/3395|21/2433|7/810||,A|upstream_gene_variant|MODIFIER|MRPL40|ENSG00000185608|transcript|ENST00000333130|protein_coding||c.-654G>A|||||446|,A|upstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000464189|processed_transcript||n.-1C>T|||||1193|,A|upstream_gene_variant|MODIFIER|MRPL40|ENSG00000185608|transcript|ENST00000443660|processed_transcript||n.-1G>A|||||1123|,A|upstream_gene_variant|MODIFIER|MRPL40|ENSG00000185608|transcript|ENST00000471259|processed_transcript||n.-1G>A|||||1483|,A|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|1/24|c.-96+16209C>T||||||,A|intron_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|2/23|n.192+15922C>T||||||,A|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|2/23|c.-96+15922C>T||||||,A|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000452818|nonsense_mediated_decay|1/5|n.72+15922C>T|||||| 22 19418991 . G A . . ANN=A|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|1/25|c.9C>T|p.Leu3Leu|266/4053|9/3054|3/1017||,A|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|1/21|c.9C>T|p.Leu3Leu|229/3395|9/2433|3/810||,A|upstream_gene_variant|MODIFIER|MRPL40|ENSG00000185608|transcript|ENST00000333130|protein_coding||c.-654G>A|||||434|,A|upstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000464189|processed_transcript||n.-1C>T|||||1205|,A|upstream_gene_variant|MODIFIER|MRPL40|ENSG00000185608|transcript|ENST00000443660|processed_transcript||n.-1G>A|||||1111|,A|upstream_gene_variant|MODIFIER|MRPL40|ENSG00000185608|transcript|ENST00000471259|processed_transcript||n.-1G>A|||||1471|,A|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|1/24|c.-96+16197C>T||||||,A|intron_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|2/23|n.192+15910C>T||||||,A|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|2/23|c.-96+15910C>T||||||,A|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000452818|nonsense_mediated_decay|1/5|n.72+15910C>T|||||| 22 19419005 . G GGCC . . ANN=GCC|5_prime_UTR_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|1/25|c.-9_-7dupGGC|||||7|,GCC|5_prime_UTR_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|1/21|c.-9_-7dupGGC|||||7|,GCC|upstream_gene_variant|MODIFIER|MRPL40|ENSG00000185608|transcript|ENST00000333130|protein_coding||c.-654_-654insGCC|||||419|,GCC|upstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000464189|processed_transcript||n.-1_-1dupGGC|||||1220|,GCC|upstream_gene_variant|MODIFIER|MRPL40|ENSG00000185608|transcript|ENST00000443660|processed_transcript||n.-1_-1insGCC|||||1096|,GCC|upstream_gene_variant|MODIFIER|MRPL40|ENSG00000185608|transcript|ENST00000471259|processed_transcript||n.-1_-1insGCC|||||1456|,GCC|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|1/24|c.-96+16180_-96+16182dupGGC||||||,GCC|intron_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|2/23|n.192+15893_192+15895dupGGC||||||,GCC|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|2/23|c.-96+15893_-96+15895dupGGC||||||,GCC|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000452818|nonsense_mediated_decay|1/5|n.72+15893_72+15895dupGGC|||||| 22 19420029 . G T . . ANN=T|5_prime_UTR_variant|MODIFIER|MRPL40|ENSG00000185608|transcript|ENST00000333130|protein_coding|1/4|c.-49G>T|||||49|,T|upstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding||c.-258C>A|||||773|,T|upstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding||c.-221C>A|||||810|,T|upstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000464189|processed_transcript||n.-1C>A|||||2243|,T|upstream_gene_variant|MODIFIER|MRPL40|ENSG00000185608|transcript|ENST00000443660|processed_transcript||n.-1G>T|||||73|,T|upstream_gene_variant|MODIFIER|MRPL40|ENSG00000185608|transcript|ENST00000471259|processed_transcript||n.-1G>T|||||433|,T|TF_binding_site_variant|MODIFIER|||CTCF|MA0139.1|||||||||,T|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|1/24|c.-96+15159C>A||||||,T|intron_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|2/23|n.192+14872C>A||||||,T|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|2/23|c.-96+14872C>A||||||,T|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000452818|nonsense_mediated_decay|1/5|n.72+14872C>A|||||| 22 19420030 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|MRPL40|ENSG00000185608|transcript|ENST00000333130|protein_coding|1/4|c.-48C>T|||||48|,T|upstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding||c.-258G>A|||||774|,T|upstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding||c.-221G>A|||||811|,T|upstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000464189|processed_transcript||n.-1G>A|||||2244|,T|upstream_gene_variant|MODIFIER|MRPL40|ENSG00000185608|transcript|ENST00000443660|processed_transcript||n.-1C>T|||||72|,T|upstream_gene_variant|MODIFIER|MRPL40|ENSG00000185608|transcript|ENST00000471259|processed_transcript||n.-1C>T|||||432|,T|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|1/24|c.-96+15158G>A||||||,T|intron_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|2/23|n.192+14871G>A||||||,T|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|2/23|c.-96+14871G>A||||||,T|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000452818|nonsense_mediated_decay|1/5|n.72+14871G>A|||||| 22 19420035 . C T . . ANN=T|5_prime_UTR_premature_start_codon_gain_variant|LOW|MRPL40|ENSG00000185608|transcript|ENST00000333130|protein_coding|1/4|c.-43C>T||||||,T|5_prime_UTR_variant|MODIFIER|MRPL40|ENSG00000185608|transcript|ENST00000333130|protein_coding|1/4|c.-43C>T|||||43|,T|upstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding||c.-258G>A|||||779|,T|upstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding||c.-221G>A|||||816|,T|upstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000464189|processed_transcript||n.-1G>A|||||2249|,T|upstream_gene_variant|MODIFIER|MRPL40|ENSG00000185608|transcript|ENST00000443660|processed_transcript||n.-1C>T|||||67|,T|upstream_gene_variant|MODIFIER|MRPL40|ENSG00000185608|transcript|ENST00000471259|processed_transcript||n.-1C>T|||||427|,T|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|1/24|c.-96+15153G>A||||||,T|intron_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|2/23|n.192+14866G>A||||||,T|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|2/23|c.-96+14866G>A||||||,T|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000452818|nonsense_mediated_decay|1/5|n.72+14866G>A|||||| 22 19420098 . A C . . ANN=C|synonymous_variant|LOW|MRPL40|ENSG00000185608|transcript|ENST00000333130|protein_coding|1/4|c.21A>C|p.Arg7Arg|674/1387|21/621|7/206||,C|sequence_feature|LOW|MRPL40|ENSG00000185608|transit_peptide:Mitochondrion|ENST00000333130|protein_coding|2/4|c.21A>C||||||,C|sequence_feature|LOW|MRPL40|ENSG00000185608|transit_peptide:Mitochondrion|ENST00000333130|protein_coding|3/4|c.21A>C||||||,C|sequence_feature|LOW|MRPL40|ENSG00000185608|transit_peptide:Mitochondrion|ENST00000333130|protein_coding|1/4|c.21A>C||||||,C|upstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding||c.-258T>G|||||842|,C|upstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding||c.-221T>G|||||879|,C|upstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000464189|processed_transcript||n.-1T>G|||||2312|,C|upstream_gene_variant|MODIFIER|MRPL40|ENSG00000185608|transcript|ENST00000443660|processed_transcript||n.-1A>C|||||4|,C|upstream_gene_variant|MODIFIER|MRPL40|ENSG00000185608|transcript|ENST00000471259|processed_transcript||n.-1A>C|||||364|,C|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|1/24|c.-96+15090T>G||||||,C|intron_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|2/23|n.192+14803T>G||||||,C|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|2/23|c.-96+14803T>G||||||,C|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000452818|nonsense_mediated_decay|1/5|n.72+14803T>G|||||| 22 19420109 . T C . . ANN=C|missense_variant|MODERATE|MRPL40|ENSG00000185608|transcript|ENST00000333130|protein_coding|1/4|c.32T>C|p.Leu11Pro|685/1387|32/621|11/206||,C|sequence_feature|LOW|MRPL40|ENSG00000185608|transit_peptide:Mitochondrion|ENST00000333130|protein_coding|2/4|c.32T>C||||||,C|sequence_feature|LOW|MRPL40|ENSG00000185608|transit_peptide:Mitochondrion|ENST00000333130|protein_coding|3/4|c.32T>C||||||,C|sequence_feature|LOW|MRPL40|ENSG00000185608|transit_peptide:Mitochondrion|ENST00000333130|protein_coding|1/4|c.32T>C||||||,C|upstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding||c.-258A>G|||||853|,C|upstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding||c.-221A>G|||||890|,C|upstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000464189|processed_transcript||n.-1A>G|||||2323|,C|upstream_gene_variant|MODIFIER|MRPL40|ENSG00000185608|transcript|ENST00000471259|processed_transcript||n.-1T>C|||||353|,C|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|1/24|c.-96+15079A>G||||||,C|intron_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|2/23|n.192+14792A>G||||||,C|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|2/23|c.-96+14792A>G||||||,C|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000452818|nonsense_mediated_decay|1/5|n.72+14792A>G||||||,C|non_coding_exon_variant|MODIFIER|MRPL40|ENSG00000185608|transcript|ENST00000443660|processed_transcript|1/4|n.8T>C|||||| 22 19420165 . C A . . ANN=A|sequence_feature|LOW|MRPL40|ENSG00000185608|transit_peptide:Mitochondrion|ENST00000333130|protein_coding|2/4|c.53+35C>A||||||,A|sequence_feature|LOW|MRPL40|ENSG00000185608|transit_peptide:Mitochondrion|ENST00000333130|protein_coding|3/4|c.53+35C>A||||||,A|sequence_feature|LOW|MRPL40|ENSG00000185608|transit_peptide:Mitochondrion|ENST00000333130|protein_coding|1/4|c.53+35C>A||||||,A|upstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding||c.-258G>T|||||909|,A|upstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding||c.-221G>T|||||946|,A|upstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000464189|processed_transcript||n.-1G>T|||||2379|,A|upstream_gene_variant|MODIFIER|MRPL40|ENSG00000185608|transcript|ENST00000471259|processed_transcript||n.-1C>A|||||297|,A|intron_variant|MODIFIER|MRPL40|ENSG00000185608|transcript|ENST00000333130|protein_coding|1/3|c.53+35C>A||||||,A|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|1/24|c.-96+15023G>T||||||,A|intron_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|2/23|n.192+14736G>T||||||,A|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|2/23|c.-96+14736G>T||||||,A|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000452818|nonsense_mediated_decay|1/5|n.72+14736G>T||||||,A|non_coding_exon_variant|MODIFIER|MRPL40|ENSG00000185608|transcript|ENST00000443660|processed_transcript|1/4|n.64C>A|||||| 22 19420180 . G C . . ANN=C|sequence_feature|LOW|MRPL40|ENSG00000185608|transit_peptide:Mitochondrion|ENST00000333130|protein_coding|2/4|c.53+50G>C||||||,C|sequence_feature|LOW|MRPL40|ENSG00000185608|transit_peptide:Mitochondrion|ENST00000333130|protein_coding|3/4|c.53+50G>C||||||,C|sequence_feature|LOW|MRPL40|ENSG00000185608|transit_peptide:Mitochondrion|ENST00000333130|protein_coding|1/4|c.53+50G>C||||||,C|upstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding||c.-258C>G|||||924|,C|upstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding||c.-221C>G|||||961|,C|upstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000464189|processed_transcript||n.-1C>G|||||2394|,C|upstream_gene_variant|MODIFIER|MRPL40|ENSG00000185608|transcript|ENST00000471259|processed_transcript||n.-1G>C|||||282|,C|intron_variant|MODIFIER|MRPL40|ENSG00000185608|transcript|ENST00000333130|protein_coding|1/3|c.53+50G>C||||||,C|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|1/24|c.-96+15008C>G||||||,C|intron_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|2/23|n.192+14721C>G||||||,C|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|2/23|c.-96+14721C>G||||||,C|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000452818|nonsense_mediated_decay|1/5|n.72+14721C>G||||||,C|non_coding_exon_variant|MODIFIER|MRPL40|ENSG00000185608|transcript|ENST00000443660|processed_transcript|1/4|n.79G>C|||||| 22 19420762 . T C . . ANN=C|sequence_feature|LOW|MRPL40|ENSG00000185608|transit_peptide:Mitochondrion|ENST00000333130|protein_coding|2/4|c.54-26T>C||||||,C|sequence_feature|LOW|MRPL40|ENSG00000185608|transit_peptide:Mitochondrion|ENST00000333130|protein_coding|3/4|c.54-26T>C||||||,C|sequence_feature|LOW|MRPL40|ENSG00000185608|transit_peptide:Mitochondrion|ENST00000333130|protein_coding|1/4|c.54-26T>C||||||,C|upstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding||c.-258A>G|||||1506|,C|upstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding||c.-221A>G|||||1543|,C|upstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000464189|processed_transcript||n.-1A>G|||||2976|,C|intron_variant|MODIFIER|MRPL40|ENSG00000185608|transcript|ENST00000333130|protein_coding|1/3|c.54-26T>C||||||,C|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|1/24|c.-96+14426A>G||||||,C|intron_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|2/23|n.192+14139A>G||||||,C|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|2/23|c.-96+14139A>G||||||,C|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000452818|nonsense_mediated_decay|1/5|n.72+14139A>G||||||,C|intron_variant|MODIFIER|MRPL40|ENSG00000185608|transcript|ENST00000443660|processed_transcript|1/3|n.282-26T>C||||||,C|non_coding_exon_variant|MODIFIER|MRPL40|ENSG00000185608|transcript|ENST00000471259|processed_transcript|1/3|n.301T>C|||||| 22 19420778 . T A . . ANN=A|sequence_feature|LOW|MRPL40|ENSG00000185608|transit_peptide:Mitochondrion|ENST00000333130|protein_coding|2/4|c.54-10T>A||||||,A|sequence_feature|LOW|MRPL40|ENSG00000185608|transit_peptide:Mitochondrion|ENST00000333130|protein_coding|3/4|c.54-10T>A||||||,A|sequence_feature|LOW|MRPL40|ENSG00000185608|transit_peptide:Mitochondrion|ENST00000333130|protein_coding|1/4|c.54-10T>A||||||,A|upstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding||c.-258A>T|||||1522|,A|upstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding||c.-221A>T|||||1559|,A|upstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000464189|processed_transcript||n.-1A>T|||||2992|,A|intron_variant|MODIFIER|MRPL40|ENSG00000185608|transcript|ENST00000333130|protein_coding|1/3|c.54-10T>A||||||,A|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|1/24|c.-96+14410A>T||||||,A|intron_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|2/23|n.192+14123A>T||||||,A|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|2/23|c.-96+14123A>T||||||,A|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000452818|nonsense_mediated_decay|1/5|n.72+14123A>T||||||,A|intron_variant|MODIFIER|MRPL40|ENSG00000185608|transcript|ENST00000443660|processed_transcript|1/3|n.282-10T>A||||||,A|non_coding_exon_variant|MODIFIER|MRPL40|ENSG00000185608|transcript|ENST00000471259|processed_transcript|1/3|n.317T>A|||||| 22 19423248 . G A . . ANN=A|synonymous_variant|LOW|MRPL40|ENSG00000185608|transcript|ENST00000333130|protein_coding|4/4|c.384G>A|p.Glu128Glu|1037/1387|384/621|128/206||,A|upstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding||c.-258C>T|||||3992|,A|upstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding||c.-221C>T|||||4029|,A|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|1/24|c.-96+11940C>T||||||,A|intron_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|2/23|n.192+11653C>T||||||,A|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|2/23|c.-96+11653C>T||||||,A|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000452818|nonsense_mediated_decay|1/5|n.72+11653C>T||||||,A|non_coding_exon_variant|MODIFIER|MRPL40|ENSG00000185608|transcript|ENST00000443660|processed_transcript|4/4|n.612G>A||||||,A|non_coding_exon_variant|MODIFIER|MRPL40|ENSG00000185608|transcript|ENST00000471259|processed_transcript|3/3|n.657G>A|||||| 22 19423249 . C T . . ANN=T|missense_variant|MODERATE|MRPL40|ENSG00000185608|transcript|ENST00000333130|protein_coding|4/4|c.385C>T|p.Arg129Cys|1038/1387|385/621|129/206||,T|upstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding||c.-258G>A|||||3993|,T|upstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding||c.-221G>A|||||4030|,T|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|1/24|c.-96+11939G>A||||||,T|intron_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|2/23|n.192+11652G>A||||||,T|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|2/23|c.-96+11652G>A||||||,T|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000452818|nonsense_mediated_decay|1/5|n.72+11652G>A||||||,T|non_coding_exon_variant|MODIFIER|MRPL40|ENSG00000185608|transcript|ENST00000443660|processed_transcript|4/4|n.613C>T||||||,T|non_coding_exon_variant|MODIFIER|MRPL40|ENSG00000185608|transcript|ENST00000471259|processed_transcript|3/3|n.658C>T|||||| 22 19423250 . G A . . ANN=A|missense_variant|MODERATE|MRPL40|ENSG00000185608|transcript|ENST00000333130|protein_coding|4/4|c.386G>A|p.Arg129His|1039/1387|386/621|129/206||,A|upstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding||c.-258C>T|||||3994|,A|upstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding||c.-221C>T|||||4031|,A|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|1/24|c.-96+11938C>T||||||,A|intron_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|2/23|n.192+11651C>T||||||,A|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|2/23|c.-96+11651C>T||||||,A|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000452818|nonsense_mediated_decay|1/5|n.72+11651C>T||||||,A|non_coding_exon_variant|MODIFIER|MRPL40|ENSG00000185608|transcript|ENST00000443660|processed_transcript|4/4|n.614G>A||||||,A|non_coding_exon_variant|MODIFIER|MRPL40|ENSG00000185608|transcript|ENST00000471259|processed_transcript|3/3|n.659G>A|||||| 22 19423356 . G T . . ANN=T|synonymous_variant|LOW|MRPL40|ENSG00000185608|transcript|ENST00000333130|protein_coding|4/4|c.492G>T|p.Arg164Arg|1145/1387|492/621|164/206||,T|upstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding||c.-258C>A|||||4100|,T|upstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding||c.-221C>A|||||4137|,T|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|1/24|c.-96+11832C>A||||||,T|intron_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|2/23|n.192+11545C>A||||||,T|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|2/23|c.-96+11545C>A||||||,T|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000452818|nonsense_mediated_decay|1/5|n.72+11545C>A||||||,T|non_coding_exon_variant|MODIFIER|MRPL40|ENSG00000185608|transcript|ENST00000443660|processed_transcript|4/4|n.720G>T||||||,T|non_coding_exon_variant|MODIFIER|MRPL40|ENSG00000185608|transcript|ENST00000471259|processed_transcript|3/3|n.765G>T|||||| 22 19438220 . T A . . ANN=A|sequence_feature|MODERATE|UFD1L|ENSG00000070010|amino_acid_modification:Phosphoserine|ENST00000263202|protein_coding|12/12|c.897A>T||||||,A|synonymous_variant|LOW|UFD1L|ENSG00000070010|transcript|ENST00000263202|protein_coding|12/12|c.897A>T|p.Ser299Ser|1027/1814|897/924|299/307||,A|synonymous_variant|LOW|UFD1L|ENSG00000070010|transcript|ENST00000360834|protein_coding|11/11|c.864A>T|p.Ser288Ser|994/1750|864/891|288/296||,A|3_prime_UTR_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000399523|protein_coding|12/12|c.*43A>T|||||43|,A|upstream_gene_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000399562|protein_coding||c.-434A>T|||||2465|,A|upstream_gene_variant|MODIFIER|AC000068.9|ENSG00000273300|transcript|ENST00000607934|antisense||n.-1T>A|||||3482|,A|upstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding||c.-133A>T|||||2996|,A|upstream_gene_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay||n.-4A>T|||||3006|,A|upstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding||c.-291A>T|||||3006|,A|upstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000452818|nonsense_mediated_decay||n.-2A>T|||||3247|,A|upstream_gene_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000399568|protein_coding||c.-5A>T|||||3005|,A|upstream_gene_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000542103|protein_coding||c.-434A>T|||||2465|,A|upstream_gene_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000333059|protein_coding||c.-10A>T|||||3000|,A|downstream_gene_variant|MODIFIER|AC000068.5|ENSG00000185065|transcript|ENST00000431090|antisense||n.*2097T>A|||||592|,A|downstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000447868|protein_coding||c.*596A>T|||||4983|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000459854|retained_intron|11/11|n.4962A>T||||||,A|non_coding_exon_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000466373|retained_intron|8/8|n.2987A>T|||||| 22 19438227 . CCTT C . . ANN=|disruptive_inframe_deletion|MODERATE|UFD1L|ENSG00000070010|transcript|ENST00000263202|protein_coding|12/12|c.887_889delAAG|p.Glu296del|1019/1814|887/924|296/307||,|disruptive_inframe_deletion|MODERATE|UFD1L|ENSG00000070010|transcript|ENST00000360834|protein_coding|11/11|c.854_856delAAG|p.Glu285del|986/1750|854/891|285/296||,|3_prime_UTR_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000399523|protein_coding|12/12|c.*33_*35delAAG|||||33|,|upstream_gene_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000399562|protein_coding||c.-434_-434delAAG|||||2473|,|upstream_gene_variant|MODIFIER|AC000068.9|ENSG00000273300|transcript|ENST00000607934|antisense||n.-1_-1delCTT|||||3474|,|upstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding||c.-133_-133delAAG|||||3004|,|upstream_gene_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay||n.-4_-4delAAG|||||3014|,|upstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding||c.-291_-291delAAG|||||3014|,|upstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000452818|nonsense_mediated_decay||n.-2_-2delAAG|||||3255|,|upstream_gene_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000399568|protein_coding||c.-5_-5delAAG|||||3013|,|upstream_gene_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000542103|protein_coding||c.-434_-434delAAG|||||2473|,|upstream_gene_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000333059|protein_coding||c.-10_-10delAAG|||||3008|,|downstream_gene_variant|MODIFIER|AC000068.5|ENSG00000185065|transcript|ENST00000431090|antisense||n.*2097_*2097delCTT|||||600|,|downstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000447868|protein_coding||c.*596_*596delAAG|||||4975|WARNING_TRANSCRIPT_INCOMPLETE,|non_coding_exon_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000459854|retained_intron|11/11|n.4952_4954delAAG||||||,|non_coding_exon_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000466373|retained_intron|8/8|n.2977_2979delAAG|||||| 22 19438305 . C G . . ANN=G|upstream_gene_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000399562|protein_coding||c.-434G>C|||||2550|,G|upstream_gene_variant|MODIFIER|AC000068.9|ENSG00000273300|transcript|ENST00000607934|antisense||n.-1C>G|||||3397|,G|upstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding||c.-133G>C|||||3081|,G|upstream_gene_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay||n.-4G>C|||||3091|,G|upstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding||c.-291G>C|||||3091|,G|upstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000452818|nonsense_mediated_decay||n.-2G>C|||||3332|,G|upstream_gene_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000399568|protein_coding||c.-5G>C|||||3090|,G|upstream_gene_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000542103|protein_coding||c.-434G>C|||||2550|,G|upstream_gene_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000333059|protein_coding||c.-10G>C|||||3085|,G|downstream_gene_variant|MODIFIER|AC000068.5|ENSG00000185065|transcript|ENST00000431090|antisense||n.*2097C>G|||||677|,G|downstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000447868|protein_coding||c.*596G>C|||||4898|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000263202|protein_coding|11/11|c.850-38G>C||||||,G|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000360834|protein_coding|10/10|c.817-38G>C||||||,G|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000399523|protein_coding|11/11|c.797-38G>C||||||,G|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000466373|retained_intron|7/7|n.2940-38G>C||||||,G|non_coding_exon_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000459854|retained_intron|11/11|n.4877G>C|||||| 22 19442261 . A G . . ANN=G|upstream_gene_variant|MODIFIER|AC000068.10|ENSG00000273212|transcript|ENST00000608816|antisense||n.-1A>G|||||1765|,G|downstream_gene_variant|MODIFIER|AC000068.5|ENSG00000185065|transcript|ENST00000431090|antisense||n.*2097A>G|||||4633|,G|downstream_gene_variant|MODIFIER|AC000068.9|ENSG00000273300|transcript|ENST00000607934|antisense||n.*427A>G|||||133|,G|downstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000447868|protein_coding||c.*596T>C|||||942|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000421968|protein_coding||c.*670T>C|||||2142|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000263202|protein_coding|11/11|c.849+11T>C||||||,G|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000360834|protein_coding|10/10|c.816+11T>C||||||,G|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000399523|protein_coding|11/11|c.796+64T>C||||||,G|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000466373|retained_intron|6/7|n.2816+64T>C||||||,G|non_coding_exon_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000459854|retained_intron|11/11|n.921T>C|||||| 22 19443158 . C T . . ANN=T|upstream_gene_variant|MODIFIER|AC000068.10|ENSG00000273212|transcript|ENST00000608816|antisense||n.-1C>T|||||868|,T|downstream_gene_variant|MODIFIER|AC000068.9|ENSG00000273300|transcript|ENST00000607934|antisense||n.*427C>T|||||1030|,T|downstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000447868|protein_coding||c.*596G>A|||||45|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000421968|protein_coding||c.*670G>A|||||1245|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000263202|protein_coding|10/11|c.767+45G>A||||||,T|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000360834|protein_coding|9/10|c.734+45G>A||||||,T|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000399523|protein_coding|10/11|c.767+45G>A||||||,T|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000459854|retained_intron|10/10|n.828+45G>A||||||,T|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000466373|retained_intron|5/7|n.2787+45G>A|||||| 22 19443171 . C T . . ANN=T|upstream_gene_variant|MODIFIER|AC000068.10|ENSG00000273212|transcript|ENST00000608816|antisense||n.-1C>T|||||855|,T|downstream_gene_variant|MODIFIER|AC000068.9|ENSG00000273300|transcript|ENST00000607934|antisense||n.*427C>T|||||1043|,T|downstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000447868|protein_coding||c.*596G>A|||||32|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000421968|protein_coding||c.*670G>A|||||1232|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000263202|protein_coding|10/11|c.767+32G>A||||||,T|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000360834|protein_coding|9/10|c.734+32G>A||||||,T|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000399523|protein_coding|10/11|c.767+32G>A||||||,T|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000459854|retained_intron|10/10|n.828+32G>A||||||,T|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000466373|retained_intron|5/7|n.2787+32G>A|||||| 22 19443268 . T C . . ANN=C|synonymous_variant|LOW|UFD1L|ENSG00000070010|transcript|ENST00000263202|protein_coding|10/12|c.702A>G|p.Arg234Arg|832/1814|702/924|234/307||,C|synonymous_variant|LOW|UFD1L|ENSG00000070010|transcript|ENST00000360834|protein_coding|9/11|c.669A>G|p.Arg223Arg|799/1750|669/891|223/296||,C|synonymous_variant|LOW|UFD1L|ENSG00000070010|transcript|ENST00000399523|protein_coding|10/12|c.702A>G|p.Arg234Arg|789/1007|702/801|234/266||,C|synonymous_variant|LOW|UFD1L|ENSG00000070010|transcript|ENST00000447868|protein_coding|7/7|c.414A>G|p.Arg138Arg|531/596|414/479|138/158||WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|AC000068.10|ENSG00000273212|transcript|ENST00000608816|antisense||n.-1T>C|||||758|,C|downstream_gene_variant|MODIFIER|AC000068.9|ENSG00000273300|transcript|ENST00000607934|antisense||n.*427T>C|||||1140|,C|downstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000421968|protein_coding||c.*670A>G|||||1135|WARNING_TRANSCRIPT_NO_STOP_CODON,C|non_coding_exon_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000459854|retained_intron|10/11|n.763A>G||||||,C|non_coding_exon_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000466373|retained_intron|5/8|n.2722A>G|||||| 22 19443311 . G C . . ANN=C|upstream_gene_variant|MODIFIER|AC000068.10|ENSG00000273212|transcript|ENST00000608816|antisense||n.-1G>C|||||715|,C|downstream_gene_variant|MODIFIER|AC000068.9|ENSG00000273300|transcript|ENST00000607934|antisense||n.*427G>C|||||1183|,C|downstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000421968|protein_coding||c.*670C>G|||||1092|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000263202|protein_coding|9/11|c.679-20C>G||||||,C|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000360834|protein_coding|8/10|c.646-20C>G||||||,C|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000399523|protein_coding|9/11|c.679-20C>G||||||,C|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000459854|retained_intron|9/10|n.740-20C>G||||||,C|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000466373|retained_intron|4/7|n.2699-20C>G||||||,C|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000447868|protein_coding|6/6|c.391-20C>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 19444181 . G A . . ANN=A|downstream_gene_variant|MODIFIER|AC000068.9|ENSG00000273300|transcript|ENST00000607934|antisense||n.*427G>A|||||2053|,A|downstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000421968|protein_coding||c.*670C>T|||||222|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000263202|protein_coding|8/11|c.631-24C>T||||||,A|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000360834|protein_coding|7/10|c.598-24C>T||||||,A|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000399523|protein_coding|8/11|c.631-24C>T||||||,A|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000459854|retained_intron|8/10|n.692-24C>T||||||,A|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000466373|retained_intron|3/7|n.2651-24C>T||||||,A|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000447868|protein_coding|5/6|c.343-24C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|AC000068.10|ENSG00000273212|transcript|ENST00000608816|antisense|1/1|n.156G>A|||||| 22 19444195 . G A . . ANN=A|downstream_gene_variant|MODIFIER|AC000068.9|ENSG00000273300|transcript|ENST00000607934|antisense||n.*427G>A|||||2067|,A|downstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000421968|protein_coding||c.*670C>T|||||208|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000263202|protein_coding|8/11|c.631-38C>T||||||,A|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000360834|protein_coding|7/10|c.598-38C>T||||||,A|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000399523|protein_coding|8/11|c.631-38C>T||||||,A|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000459854|retained_intron|8/10|n.692-38C>T||||||,A|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000466373|retained_intron|3/7|n.2651-38C>T||||||,A|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000447868|protein_coding|5/6|c.343-38C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|AC000068.10|ENSG00000273212|transcript|ENST00000608816|antisense|1/1|n.170G>A|||||| 22 19445561 . C T . . ANN=T|sequence_feature|LOW|UFD1L|ENSG00000070010|beta_strand|ENST00000263202|protein_coding|7/12|c.564+33G>A||||||,T|sequence_feature|LOW|UFD1L|ENSG00000070010|beta_strand|ENST00000263202|protein_coding|8/12|c.564+33G>A||||||,T|sequence_feature|LOW|UFD1L|ENSG00000070010|beta_strand|ENST00000399523|protein_coding|7/12|c.564+33G>A||||||,T|sequence_feature|LOW|UFD1L|ENSG00000070010|beta_strand|ENST00000399523|protein_coding|8/12|c.564+33G>A||||||,T|downstream_gene_variant|MODIFIER|AC000068.9|ENSG00000273300|transcript|ENST00000607934|antisense||n.*427C>T|||||3433|,T|downstream_gene_variant|MODIFIER|AC000068.10|ENSG00000273212|transcript|ENST00000608816|antisense||n.*460C>T|||||1076|,T|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000263202|protein_coding|7/11|c.564+33G>A||||||,T|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000360834|protein_coding|6/10|c.531+33G>A||||||,T|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000399523|protein_coding|7/11|c.564+33G>A||||||,T|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000459854|retained_intron|7/10|n.625+33G>A||||||,T|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000466373|retained_intron|2/7|n.2584+33G>A||||||,T|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000447868|protein_coding|4/6|c.276+33G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000421968|protein_coding|6/6|c.531+33G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 19445576 . C G . . ANN=G|sequence_feature|LOW|UFD1L|ENSG00000070010|beta_strand|ENST00000263202|protein_coding|7/12|c.564+18G>C||||||,G|sequence_feature|LOW|UFD1L|ENSG00000070010|beta_strand|ENST00000263202|protein_coding|8/12|c.564+18G>C||||||,G|sequence_feature|LOW|UFD1L|ENSG00000070010|beta_strand|ENST00000399523|protein_coding|7/12|c.564+18G>C||||||,G|sequence_feature|LOW|UFD1L|ENSG00000070010|beta_strand|ENST00000399523|protein_coding|8/12|c.564+18G>C||||||,G|downstream_gene_variant|MODIFIER|AC000068.9|ENSG00000273300|transcript|ENST00000607934|antisense||n.*427C>G|||||3448|,G|downstream_gene_variant|MODIFIER|AC000068.10|ENSG00000273212|transcript|ENST00000608816|antisense||n.*460C>G|||||1091|,G|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000263202|protein_coding|7/11|c.564+18G>C||||||,G|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000360834|protein_coding|6/10|c.531+18G>C||||||,G|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000399523|protein_coding|7/11|c.564+18G>C||||||,G|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000459854|retained_intron|7/10|n.625+18G>C||||||,G|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000466373|retained_intron|2/7|n.2584+18G>C||||||,G|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000447868|protein_coding|4/6|c.276+18G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000421968|protein_coding|6/6|c.531+18G>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 19452712 . G C . . ANN=C|downstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000484101|processed_transcript||n.*751C>G|||||13|,C|downstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000489406|retained_intron||n.*994C>G|||||2214|,C|downstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000494054|protein_coding||c.*588C>G|||||2684|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000474226|protein_coding||c.*293C>G|||||2706|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000263202|protein_coding|6/11|c.495+13C>G||||||,C|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000360834|protein_coding|5/10|c.462+13C>G||||||,C|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000399523|protein_coding|6/11|c.495+13C>G||||||,C|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000459854|retained_intron|6/10|n.556+13C>G||||||,C|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000466373|retained_intron|1/7|n.2515+13C>G||||||,C|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000447868|protein_coding|3/6|c.207+13C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000421968|protein_coding|5/6|c.462+13C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 19455376 . C T . . ANN=T|sequence_feature|LOW|UFD1L|ENSG00000070010|helix|ENST00000263202|protein_coding|5/12|c.422+20G>A||||||,T|sequence_feature|LOW|UFD1L|ENSG00000070010|helix|ENST00000263202|protein_coding|6/12|c.422+20G>A||||||,T|sequence_feature|LOW|UFD1L|ENSG00000070010|helix|ENST00000399523|protein_coding|5/12|c.422+20G>A||||||,T|sequence_feature|LOW|UFD1L|ENSG00000070010|helix|ENST00000399523|protein_coding|6/12|c.422+20G>A||||||,T|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000466373|retained_intron||n.-1G>A|||||137|,T|downstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000494054|protein_coding||c.*588G>A|||||20|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000474226|protein_coding||c.*293G>A|||||42|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000263202|protein_coding|5/11|c.422+20G>A||||||,T|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000360834|protein_coding|4/10|c.389+20G>A||||||,T|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000399523|protein_coding|5/11|c.422+20G>A||||||,T|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000459854|retained_intron|5/10|n.483+20G>A||||||,T|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000447868|protein_coding|2/6|c.134+20G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000421968|protein_coding|4/6|c.389+20G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000484101|processed_transcript|5/5|n.678+20G>A||||||,T|non_coding_exon_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000489406|retained_intron|5/5|n.544G>A|||||| 22 19455430 . G C . . ANN=C|missense_variant|MODERATE|UFD1L|ENSG00000070010|transcript|ENST00000263202|protein_coding|5/12|c.388C>G|p.Pro130Ala|518/1814|388/924|130/307||,C|missense_variant|MODERATE|UFD1L|ENSG00000070010|transcript|ENST00000360834|protein_coding|4/11|c.355C>G|p.Pro119Ala|485/1750|355/891|119/296||,C|missense_variant|MODERATE|UFD1L|ENSG00000070010|transcript|ENST00000399523|protein_coding|5/12|c.388C>G|p.Pro130Ala|475/1007|388/801|130/266||,C|missense_variant|MODERATE|UFD1L|ENSG00000070010|transcript|ENST00000447868|protein_coding|2/7|c.100C>G|p.Pro34Ala|217/596|100/479|34/158||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|UFD1L|ENSG00000070010|transcript|ENST00000421968|protein_coding|4/7|c.355C>G|p.Pro119Ala|455/670|355/570|119/189||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|UFD1L|ENSG00000070010|transcript|ENST00000494054|protein_coding|5/5|c.373C>G|p.Pro125Ala|554/588|373/407|125/134||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|UFD1L|ENSG00000070010|transcript|ENST00000474226|protein_coding|3/3|c.196C>G|p.Pro66Ala|281/293|196/208|66/68||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|UFD1L|ENSG00000070010|helix|ENST00000263202|protein_coding|5/12|c.388C>G||||||,C|sequence_feature|LOW|UFD1L|ENSG00000070010|helix|ENST00000399523|protein_coding|5/12|c.388C>G||||||,C|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000466373|retained_intron||n.-1C>G|||||191|,C|non_coding_exon_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000459854|retained_intron|5/11|n.449C>G||||||,C|non_coding_exon_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000484101|processed_transcript|5/6|n.644C>G||||||,C|non_coding_exon_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000489406|retained_intron|5/5|n.490C>G|||||| 22 19455497 . G A . . ANN=A|synonymous_variant|LOW|UFD1L|ENSG00000070010|transcript|ENST00000263202|protein_coding|5/12|c.321C>T|p.Gly107Gly|451/1814|321/924|107/307||,A|synonymous_variant|LOW|UFD1L|ENSG00000070010|transcript|ENST00000360834|protein_coding|4/11|c.288C>T|p.Gly96Gly|418/1750|288/891|96/296||,A|synonymous_variant|LOW|UFD1L|ENSG00000070010|transcript|ENST00000399523|protein_coding|5/12|c.321C>T|p.Gly107Gly|408/1007|321/801|107/266||,A|synonymous_variant|LOW|UFD1L|ENSG00000070010|transcript|ENST00000447868|protein_coding|2/7|c.33C>T|p.Gly11Gly|150/596|33/479|11/158||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|UFD1L|ENSG00000070010|transcript|ENST00000421968|protein_coding|4/7|c.288C>T|p.Gly96Gly|388/670|288/570|96/189||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|UFD1L|ENSG00000070010|transcript|ENST00000494054|protein_coding|5/5|c.306C>T|p.Gly102Gly|487/588|306/407|102/134||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|UFD1L|ENSG00000070010|transcript|ENST00000474226|protein_coding|3/3|c.129C>T|p.Gly43Gly|214/293|129/208|43/68||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000466373|retained_intron||n.-1C>T|||||258|,A|non_coding_exon_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000459854|retained_intron|5/11|n.382C>T||||||,A|non_coding_exon_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000484101|processed_transcript|5/6|n.577C>T||||||,A|non_coding_exon_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000489406|retained_intron|5/5|n.423C>T|||||| 22 19459176 . G C . . ANN=C|sequence_feature|LOW|UFD1L|ENSG00000070010|helix|ENST00000263202|protein_coding|5/12|c.291+34C>G||||||,C|sequence_feature|LOW|UFD1L|ENSG00000070010|helix|ENST00000263202|protein_coding|4/12|c.291+34C>G||||||,C|sequence_feature|LOW|UFD1L|ENSG00000070010|helix|ENST00000399523|protein_coding|5/12|c.291+34C>G||||||,C|sequence_feature|LOW|UFD1L|ENSG00000070010|helix|ENST00000399523|protein_coding|4/12|c.291+34C>G||||||,C|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000466373|retained_intron||n.-1C>G|||||3937|,C|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000263202|protein_coding|4/11|c.291+34C>G||||||,C|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000360834|protein_coding|3/10|c.258+34C>G||||||,C|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000399523|protein_coding|4/11|c.291+34C>G||||||,C|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000459854|retained_intron|4/10|n.352+34C>G||||||,C|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000447868|protein_coding|1/6|c.4-3650C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000421968|protein_coding|3/6|c.258+34C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000484101|processed_transcript|4/5|n.547+34C>G||||||,C|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000489406|retained_intron|4/4|n.393+34C>G||||||,C|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000494054|protein_coding|4/4|c.276+34C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000474226|protein_coding|2/2|c.99+34C>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 19462668 . A C . . ANN=C|sequence_feature|LOW|UFD1L|ENSG00000070010|beta_strand|ENST00000263202|protein_coding|2/12|c.137-45T>G||||||,C|sequence_feature|LOW|UFD1L|ENSG00000070010|beta_strand|ENST00000263202|protein_coding|3/12|c.137-45T>G||||||,C|sequence_feature|LOW|UFD1L|ENSG00000070010|beta_strand|ENST00000399523|protein_coding|2/12|c.137-45T>G||||||,C|sequence_feature|LOW|UFD1L|ENSG00000070010|beta_strand|ENST00000399523|protein_coding|3/12|c.137-45T>G||||||,C|upstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding||c.-79A>C|||||4746|,C|upstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding||c.-257A>C|||||4314|,C|upstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000438587|protein_coding||c.-76A>C|||||4337|WARNING_TRANSCRIPT_NO_STOP_CODON,C|upstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000455750|protein_coding||c.-232A>C|||||4593|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000491520|retained_intron||n.-1A>C|||||4593|,C|upstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding||c.-77A>C|||||4748|,C|upstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000483431|processed_transcript||n.-1A>C|||||4756|,C|upstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding||c.-32A>C|||||4793|,C|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000263202|protein_coding|2/11|c.137-45T>G||||||,C|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000360834|protein_coding|2/10|c.136+325T>G||||||,C|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000399523|protein_coding|2/11|c.137-45T>G||||||,C|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000459854|retained_intron|2/10|n.198-45T>G||||||,C|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000447868|protein_coding|1/6|c.3+3938T>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000421968|protein_coding|2/6|c.136+325T>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000484101|processed_transcript|2/5|n.393-45T>G||||||,C|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000489406|retained_intron|2/4|n.239-45T>G||||||,C|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000494054|protein_coding|2/4|c.122-45T>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000474226|protein_coding|1/2|c.-23-3337T>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 19463060 . G A . . ANN=A|synonymous_variant|LOW|UFD1L|ENSG00000070010|transcript|ENST00000263202|protein_coding|2/12|c.69C>T|p.Tyr23Tyr|199/1814|69/924|23/307||,A|synonymous_variant|LOW|UFD1L|ENSG00000070010|transcript|ENST00000360834|protein_coding|2/11|c.69C>T|p.Tyr23Tyr|199/1750|69/891|23/296||,A|synonymous_variant|LOW|UFD1L|ENSG00000070010|transcript|ENST00000399523|protein_coding|2/12|c.69C>T|p.Tyr23Tyr|156/1007|69/801|23/266||,A|synonymous_variant|LOW|UFD1L|ENSG00000070010|transcript|ENST00000421968|protein_coding|2/7|c.69C>T|p.Tyr23Tyr|169/670|69/570|23/189||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|UFD1L|ENSG00000070010|transcript|ENST00000494054|protein_coding|2/5|c.54C>T|p.Tyr18Tyr|235/588|54/407|18/134||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|UFD1L|ENSG00000070010|beta_strand|ENST00000263202|protein_coding|2/12|c.69C>T||||||,A|sequence_feature|LOW|UFD1L|ENSG00000070010|beta_strand|ENST00000399523|protein_coding|2/12|c.69C>T||||||,A|upstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding||c.-79G>A|||||4354|,A|upstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding||c.-257G>A|||||3922|,A|upstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000438587|protein_coding||c.-76G>A|||||3945|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000455750|protein_coding||c.-232G>A|||||4201|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000491520|retained_intron||n.-1G>A|||||4201|,A|upstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding||c.-77G>A|||||4356|,A|upstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000483431|processed_transcript||n.-1G>A|||||4364|,A|upstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding||c.-32G>A|||||4401|,A|upstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000487669|retained_intron||n.-1G>A|||||4613|,A|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000447868|protein_coding|1/6|c.3+3546C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000474226|protein_coding|1/2|c.-24+3546C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000459854|retained_intron|2/11|n.156C>T||||||,A|non_coding_exon_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000484101|processed_transcript|2/6|n.325C>T||||||,A|non_coding_exon_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000489406|retained_intron|2/5|n.171C>T|||||| 22 19463108 . G A . . ANN=A|synonymous_variant|LOW|UFD1L|ENSG00000070010|transcript|ENST00000263202|protein_coding|2/12|c.21C>T|p.Phe7Phe|151/1814|21/924|7/307||,A|synonymous_variant|LOW|UFD1L|ENSG00000070010|transcript|ENST00000360834|protein_coding|2/11|c.21C>T|p.Phe7Phe|151/1750|21/891|7/296||,A|synonymous_variant|LOW|UFD1L|ENSG00000070010|transcript|ENST00000399523|protein_coding|2/12|c.21C>T|p.Phe7Phe|108/1007|21/801|7/266||,A|synonymous_variant|LOW|UFD1L|ENSG00000070010|transcript|ENST00000421968|protein_coding|2/7|c.21C>T|p.Phe7Phe|121/670|21/570|7/189||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|UFD1L|ENSG00000070010|transcript|ENST00000494054|protein_coding|2/5|c.6C>T|p.Phe2Phe|187/588|6/407|2/134||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding||c.-79G>A|||||4306|,A|upstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding||c.-257G>A|||||3874|,A|upstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000438587|protein_coding||c.-76G>A|||||3897|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000455750|protein_coding||c.-232G>A|||||4153|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000491520|retained_intron||n.-1G>A|||||4153|,A|upstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding||c.-77G>A|||||4308|,A|upstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000483431|processed_transcript||n.-1G>A|||||4316|,A|upstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding||c.-32G>A|||||4353|,A|upstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000487669|retained_intron||n.-1G>A|||||4565|,A|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000447868|protein_coding|1/6|c.3+3498C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000474226|protein_coding|1/2|c.-24+3498C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000459854|retained_intron|2/11|n.108C>T||||||,A|non_coding_exon_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000484101|processed_transcript|2/6|n.277C>T||||||,A|non_coding_exon_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000489406|retained_intron|2/5|n.123C>T|||||| 22 19467462 . G T . . ANN=T|5_prime_UTR_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|1/20|c.-30G>T|||||30|,T|5_prime_UTR_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|2/20|c.-30G>T|||||30|,T|5_prime_UTR_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000455750|protein_coding|1/4|c.-30G>T|||||30|WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|1/19|c.-30G>T|||||30|,T|5_prime_UTR_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|1/18|c.-30G>T|||||30|,T|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000263202|protein_coding||c.-131C>A|||||724|,T|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000360834|protein_coding||c.-131C>A|||||724|,T|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000399523|protein_coding||c.-88C>A|||||767|,T|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000459854|retained_intron||n.-1C>A|||||767|,T|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000447868|protein_coding||c.-118C>A|||||737|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000421968|protein_coding||c.-101C>A|||||754|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000484101|processed_transcript||n.-1C>A|||||856|,T|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000489406|retained_intron||n.-1C>A|||||752|,T|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000494054|protein_coding||c.-182C>A|||||1008|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000474226|protein_coding||c.-86C>A|||||795|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000487669|retained_intron||n.-1G>T|||||211|,T|upstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000428937|nonsense_mediated_decay||n.-3G>T|||||2812|,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000438587|protein_coding|1/5|c.16-219G>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000491520|retained_intron|1/4|n.202G>T||||||,T|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000483431|processed_transcript|1/8|n.39G>T|||||| 22 19467482 . C A . . ANN=A|5_prime_UTR_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|1/20|c.-10C>A|||||10|,A|5_prime_UTR_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|2/20|c.-10C>A|||||10|,A|5_prime_UTR_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000455750|protein_coding|1/4|c.-10C>A|||||10|WARNING_TRANSCRIPT_INCOMPLETE,A|5_prime_UTR_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|1/19|c.-10C>A|||||10|,A|5_prime_UTR_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|1/18|c.-10C>A|||||10|,A|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000263202|protein_coding||c.-131G>T|||||744|,A|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000360834|protein_coding||c.-131G>T|||||744|,A|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000399523|protein_coding||c.-88G>T|||||787|,A|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000459854|retained_intron||n.-1G>T|||||787|,A|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000447868|protein_coding||c.-118G>T|||||757|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000421968|protein_coding||c.-101G>T|||||774|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000484101|processed_transcript||n.-1G>T|||||876|,A|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000489406|retained_intron||n.-1G>T|||||772|,A|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000494054|protein_coding||c.-182G>T|||||1028|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000474226|protein_coding||c.-86G>T|||||815|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000487669|retained_intron||n.-1C>A|||||191|,A|upstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000428937|nonsense_mediated_decay||n.-3C>A|||||2792|,A|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000438587|protein_coding|1/5|c.16-199C>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000491520|retained_intron|1/4|n.222C>A||||||,A|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000483431|processed_transcript|1/8|n.59C>A|||||| 22 19467489 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|1/20|c.-3G>A|||||3|,A|5_prime_UTR_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|2/20|c.-3G>A|||||3|,A|5_prime_UTR_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000455750|protein_coding|1/4|c.-3G>A|||||3|WARNING_TRANSCRIPT_INCOMPLETE,A|5_prime_UTR_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|1/19|c.-3G>A|||||3|,A|5_prime_UTR_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|1/18|c.-3G>A|||||3|,A|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000263202|protein_coding||c.-131C>T|||||751|,A|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000360834|protein_coding||c.-131C>T|||||751|,A|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000399523|protein_coding||c.-88C>T|||||794|,A|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000459854|retained_intron||n.-1C>T|||||794|,A|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000447868|protein_coding||c.-118C>T|||||764|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000421968|protein_coding||c.-101C>T|||||781|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000484101|processed_transcript||n.-1C>T|||||883|,A|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000489406|retained_intron||n.-1C>T|||||779|,A|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000494054|protein_coding||c.-182C>T|||||1035|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000474226|protein_coding||c.-86C>T|||||822|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000487669|retained_intron||n.-1G>A|||||184|,A|upstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000428937|nonsense_mediated_decay||n.-3G>A|||||2785|,A|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000438587|protein_coding|1/5|c.16-192G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000491520|retained_intron|1/4|n.229G>A||||||,A|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000483431|processed_transcript|1/8|n.66G>A|||||| 22 19467510 . C G . . ANN=G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|1/20|c.19C>G|p.Arg7Gly|97/2007|19/1797|7/598||,G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|2/20|c.19C>G|p.Arg7Gly|275/2090|19/1701|7/566||,G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000455750|protein_coding|1/4|c.19C>G|p.Arg7Gly|250/568|19/337|7/111||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|1/19|c.19C>G|p.Arg7Gly|95/1909|19/1701|7/566||,G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|1/18|c.19C>G|p.Arg7Gly|50/1693|19/1563|7/520||,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000263202|protein_coding||c.-131G>C|||||772|,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000360834|protein_coding||c.-131G>C|||||772|,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000399523|protein_coding||c.-88G>C|||||815|,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000459854|retained_intron||n.-1G>C|||||815|,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000447868|protein_coding||c.-118G>C|||||785|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000421968|protein_coding||c.-101G>C|||||802|WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000484101|processed_transcript||n.-1G>C|||||904|,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000489406|retained_intron||n.-1G>C|||||800|,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000494054|protein_coding||c.-182G>C|||||1056|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000474226|protein_coding||c.-86G>C|||||843|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000487669|retained_intron||n.-1C>G|||||163|,G|upstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000428937|nonsense_mediated_decay||n.-3C>G|||||2764|,G|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000438587|protein_coding|1/5|c.16-171C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000491520|retained_intron|1/4|n.250C>G||||||,G|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000483431|processed_transcript|1/8|n.87C>G|||||| 22 19467652 . T C . . ANN=C|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000263202|protein_coding||c.-131A>G|||||914|,C|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000360834|protein_coding||c.-131A>G|||||914|,C|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000399523|protein_coding||c.-88A>G|||||957|,C|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000459854|retained_intron||n.-1A>G|||||957|,C|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000447868|protein_coding||c.-118A>G|||||927|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000421968|protein_coding||c.-101A>G|||||944|WARNING_TRANSCRIPT_NO_STOP_CODON,C|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000484101|processed_transcript||n.-1A>G|||||1046|,C|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000489406|retained_intron||n.-1A>G|||||942|,C|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000494054|protein_coding||c.-182A>G|||||1198|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000474226|protein_coding||c.-86A>G|||||985|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000487669|retained_intron||n.-1T>C|||||21|,C|upstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000428937|nonsense_mediated_decay||n.-3T>C|||||2622|,C|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|1/19|c.52-29T>C||||||,C|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|2/19|c.52-29T>C||||||,C|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000438587|protein_coding|1/5|c.16-29T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000455750|protein_coding|1/3|c.52-29T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|1/18|c.52-29T>C||||||,C|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000483431|processed_transcript|1/7|n.120-29T>C||||||,C|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|1/17|c.52-29T>C||||||,C|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000491520|retained_intron|1/4|n.392T>C|||||| 22 19467717 . C T . . ANN=T|synonymous_variant|LOW|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|2/20|c.88C>T|p.Leu30Leu|166/2007|88/1797|30/598||,T|synonymous_variant|LOW|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|3/20|c.88C>T|p.Leu30Leu|344/2090|88/1701|30/566||,T|synonymous_variant|LOW|CDC45|ENSG00000093009|transcript|ENST00000438587|protein_coding|2/6|c.52C>T|p.Leu18Leu|127/552|52/477|18/158||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|CDC45|ENSG00000093009|transcript|ENST00000455750|protein_coding|2/4|c.88C>T|p.Leu30Leu|319/568|88/337|30/111||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|2/19|c.88C>T|p.Leu30Leu|164/1909|88/1701|30/566||,T|synonymous_variant|LOW|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|2/18|c.88C>T|p.Leu30Leu|119/1693|88/1563|30/520||,T|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000263202|protein_coding||c.-131G>A|||||979|,T|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000360834|protein_coding||c.-131G>A|||||979|,T|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000399523|protein_coding||c.-88G>A|||||1022|,T|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000459854|retained_intron||n.-1G>A|||||1022|,T|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000447868|protein_coding||c.-118G>A|||||992|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000421968|protein_coding||c.-101G>A|||||1009|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000484101|processed_transcript||n.-1G>A|||||1111|,T|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000489406|retained_intron||n.-1G>A|||||1007|,T|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000494054|protein_coding||c.-182G>A|||||1263|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000474226|protein_coding||c.-86G>A|||||1050|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000428937|nonsense_mediated_decay||n.-3C>T|||||2557|,T|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000491520|retained_intron|1/4|n.457C>T||||||,T|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000483431|processed_transcript|2/8|n.156C>T||||||,T|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000487669|retained_intron|1/8|n.45C>T|||||| 22 19468514 . T C . . ANN=C|synonymous_variant|LOW|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|3/20|c.150T>C|p.Val50Val|228/2007|150/1797|50/598||,C|synonymous_variant|LOW|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|4/20|c.150T>C|p.Val50Val|406/2090|150/1701|50/566||,C|synonymous_variant|LOW|CDC45|ENSG00000093009|transcript|ENST00000438587|protein_coding|3/6|c.114T>C|p.Val38Val|189/552|114/477|38/158||WARNING_TRANSCRIPT_NO_STOP_CODON,C|synonymous_variant|LOW|CDC45|ENSG00000093009|transcript|ENST00000455750|protein_coding|3/4|c.150T>C|p.Val50Val|381/568|150/337|50/111||WARNING_TRANSCRIPT_INCOMPLETE,C|synonymous_variant|LOW|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|3/19|c.150T>C|p.Val50Val|226/1909|150/1701|50/566||,C|synonymous_variant|LOW|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|3/18|c.150T>C|p.Val50Val|181/1693|150/1563|50/520||,C|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000263202|protein_coding||c.-131A>G|||||1776|,C|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000360834|protein_coding||c.-131A>G|||||1776|,C|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000399523|protein_coding||c.-88A>G|||||1819|,C|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000459854|retained_intron||n.-1A>G|||||1819|,C|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000447868|protein_coding||c.-118A>G|||||1789|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000421968|protein_coding||c.-101A>G|||||1806|WARNING_TRANSCRIPT_NO_STOP_CODON,C|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000484101|processed_transcript||n.-1A>G|||||1908|,C|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000489406|retained_intron||n.-1A>G|||||1804|,C|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000494054|protein_coding||c.-182A>G|||||2060|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000474226|protein_coding||c.-86A>G|||||1847|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000428937|nonsense_mediated_decay||n.-3T>C|||||1760|,C|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000491520|retained_intron|2/4|n.519T>C||||||,C|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000483431|processed_transcript|3/8|n.218T>C||||||,C|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000487669|retained_intron|2/8|n.107T>C|||||| 22 19470201 . C T . . ANN=T|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000263202|protein_coding||c.-131G>A|||||3463|,T|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000360834|protein_coding||c.-131G>A|||||3463|,T|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000399523|protein_coding||c.-88G>A|||||3506|,T|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000459854|retained_intron||n.-1G>A|||||3506|,T|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000447868|protein_coding||c.-118G>A|||||3476|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000421968|protein_coding||c.-101G>A|||||3493|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000484101|processed_transcript||n.-1G>A|||||3595|,T|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000489406|retained_intron||n.-1G>A|||||3491|,T|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000494054|protein_coding||c.-182G>A|||||3747|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000474226|protein_coding||c.-86G>A|||||3534|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000428937|nonsense_mediated_decay||n.-3C>T|||||73|,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|3/19|c.205-12C>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|4/19|c.205-12C>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000438587|protein_coding|3/5|c.169-12C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000455750|protein_coding|3/3|c.205-12C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000491520|retained_intron|2/3|n.574-12C>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|3/18|c.205-12C>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000483431|processed_transcript|3/7|n.273-12C>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|3/17|c.205-1184C>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000487669|retained_intron|2/7|n.162-12C>T|||||| 22 19470249 . G A . . ANN=A|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|4/20|c.241G>A|p.Val81Ile|319/2007|241/1797|81/598||,A|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|5/20|c.241G>A|p.Val81Ile|497/2090|241/1701|81/566||,A|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000438587|protein_coding|4/6|c.205G>A|p.Val69Ile|280/552|205/477|69/158||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000455750|protein_coding|4/4|c.241G>A|p.Val81Ile|472/568|241/337|81/111||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|4/19|c.241G>A|p.Val81Ile|317/1909|241/1701|81/566||,A|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000263202|protein_coding||c.-131C>T|||||3511|,A|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000360834|protein_coding||c.-131C>T|||||3511|,A|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000399523|protein_coding||c.-88C>T|||||3554|,A|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000459854|retained_intron||n.-1C>T|||||3554|,A|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000447868|protein_coding||c.-118C>T|||||3524|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000421968|protein_coding||c.-101C>T|||||3541|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000484101|processed_transcript||n.-1C>T|||||3643|,A|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000489406|retained_intron||n.-1C>T|||||3539|,A|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000494054|protein_coding||c.-182C>T|||||3795|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000474226|protein_coding||c.-86C>T|||||3582|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000428937|nonsense_mediated_decay||n.-3G>A|||||25|,A|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|3/17|c.205-1136G>A||||||,A|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000491520|retained_intron|3/4|n.610G>A||||||,A|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000483431|processed_transcript|4/8|n.309G>A||||||,A|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000487669|retained_intron|3/8|n.198G>A|||||| 22 19470305 . C T . . ANN=T|synonymous_variant|LOW|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|4/20|c.297C>T|p.Asp99Asp|375/2007|297/1797|99/598||,T|synonymous_variant|LOW|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|5/20|c.297C>T|p.Asp99Asp|553/2090|297/1701|99/566||,T|synonymous_variant|LOW|CDC45|ENSG00000093009|transcript|ENST00000438587|protein_coding|4/6|c.261C>T|p.Asp87Asp|336/552|261/477|87/158||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|CDC45|ENSG00000093009|transcript|ENST00000455750|protein_coding|4/4|c.297C>T|p.Asp99Asp|528/568|297/337|99/111||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|4/19|c.297C>T|p.Asp99Asp|373/1909|297/1701|99/566||,T|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000263202|protein_coding||c.-131G>A|||||3567|,T|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000360834|protein_coding||c.-131G>A|||||3567|,T|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000399523|protein_coding||c.-88G>A|||||3610|,T|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000459854|retained_intron||n.-1G>A|||||3610|,T|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000447868|protein_coding||c.-118G>A|||||3580|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000421968|protein_coding||c.-101G>A|||||3597|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000484101|processed_transcript||n.-1G>A|||||3699|,T|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000489406|retained_intron||n.-1G>A|||||3595|,T|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000494054|protein_coding||c.-182G>A|||||3851|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000474226|protein_coding||c.-86G>A|||||3638|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|3/17|c.205-1080C>T||||||,T|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000491520|retained_intron|3/4|n.666C>T||||||,T|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000483431|processed_transcript|4/8|n.365C>T||||||,T|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000487669|retained_intron|3/8|n.254C>T||||||,T|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000428937|nonsense_mediated_decay|1/8|n.30C>T|||||| 22 19471407 . A G . . ANN=G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|5/20|c.365A>G|p.Asp122Gly|443/2007|365/1797|122/598||,G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|6/20|c.365A>G|p.Asp122Gly|621/2090|365/1701|122/566||,G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000438587|protein_coding|5/6|c.329A>G|p.Asp110Gly|404/552|329/477|110/158||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|5/19|c.365A>G|p.Asp122Gly|441/1909|365/1701|122/566||,G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|4/18|c.227A>G|p.Asp76Gly|258/1693|227/1563|76/520||,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000263202|protein_coding||c.-131T>C|||||4669|,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000360834|protein_coding||c.-131T>C|||||4669|,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000399523|protein_coding||c.-88T>C|||||4712|,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000459854|retained_intron||n.-1T>C|||||4712|,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000447868|protein_coding||c.-118T>C|||||4682|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000421968|protein_coding||c.-101T>C|||||4699|WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000484101|processed_transcript||n.-1T>C|||||4801|,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000489406|retained_intron||n.-1T>C|||||4697|,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000494054|protein_coding||c.-182T>C|||||4953|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000474226|protein_coding||c.-86T>C|||||4740|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000455750|protein_coding||c.*568A>G|||||1062|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000491520|retained_intron||n.*723A>G|||||11|,G|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000483431|processed_transcript|5/8|n.433A>G||||||,G|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000487669|retained_intron|4/8|n.322A>G||||||,G|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000428937|nonsense_mediated_decay|2/8|n.98A>G|||||| 22 19471506 . A G . . ANN=G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|5/20|c.464A>G|p.Glu155Gly|542/2007|464/1797|155/598||,G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|6/20|c.464A>G|p.Glu155Gly|720/2090|464/1701|155/566||,G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000438587|protein_coding|5/6|c.428A>G|p.Glu143Gly|503/552|428/477|143/158||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|5/19|c.464A>G|p.Glu155Gly|540/1909|464/1701|155/566||,G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|4/18|c.326A>G|p.Glu109Gly|357/1693|326/1563|109/520||,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000263202|protein_coding||c.-131T>C|||||4768|,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000360834|protein_coding||c.-131T>C|||||4768|,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000399523|protein_coding||c.-88T>C|||||4811|,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000459854|retained_intron||n.-1T>C|||||4811|,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000447868|protein_coding||c.-118T>C|||||4781|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000421968|protein_coding||c.-101T>C|||||4798|WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000484101|processed_transcript||n.-1T>C|||||4900|,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000489406|retained_intron||n.-1T>C|||||4796|,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000474226|protein_coding||c.-86T>C|||||4839|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000455750|protein_coding||c.*568A>G|||||1161|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000491520|retained_intron||n.*723A>G|||||110|,G|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000483431|processed_transcript|5/8|n.532A>G||||||,G|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000487669|retained_intron|4/8|n.421A>G||||||,G|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000428937|nonsense_mediated_decay|2/8|n.197A>G|||||| 22 19481883 . C T . . ANN=T|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|6/20|c.520C>T|p.Arg174Trp|598/2007|520/1797|174/598||,T|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|7/20|c.520C>T|p.Arg174Trp|776/2090|520/1701|174/566||,T|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|6/19|c.520C>T|p.Arg174Trp|596/1909|520/1701|174/566||,T|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|5/18|c.382C>T|p.Arg128Trp|413/1693|382/1563|128/520||,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000438587|protein_coding||c.*552C>T|||||7|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000483431|processed_transcript|6/8|n.588C>T||||||,T|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000487669|retained_intron|5/8|n.477C>T||||||,T|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000428937|nonsense_mediated_decay|3/8|n.253C>T|||||| 22 19483472 . C T . . ANN=T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000438587|protein_coding||c.*552C>T|||||1596|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|7/19|c.639-32C>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|7/19|c.543-32C>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|6/18|c.543-32C>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000483431|processed_transcript|7/7|n.707-32C>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|5/17|c.405-32C>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000487669|retained_intron|6/7|n.629-32C>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000428937|nonsense_mediated_decay|4/7|n.*117-32C>T|||||| 22 19483565 . A T . . ANN=T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000438587|protein_coding||c.*552A>T|||||1689|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000483431|processed_transcript||n.*712A>T|||||56|,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|8/19|c.687+13A>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|8/19|c.591+13A>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|7/18|c.591+13A>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|6/17|c.453+13A>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000487669|retained_intron|7/7|n.677+13A>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000428937|nonsense_mediated_decay|5/7|n.*165+13A>T|||||| 22 19483593 . C T . . ANN=T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000438587|protein_coding||c.*552C>T|||||1717|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000483431|processed_transcript||n.*712C>T|||||84|,T|TF_binding_site_variant|MODIFIER|||CTCF|MA0139.1|||||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|8/19|c.687+41C>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|8/19|c.591+41C>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|7/18|c.591+41C>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|6/17|c.453+41C>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000487669|retained_intron|7/7|n.677+41C>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000428937|nonsense_mediated_decay|5/7|n.*165+41C>T|||||| 22 19486597 . C T . . ANN=T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000438587|protein_coding||c.*552C>T|||||4721|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000483431|processed_transcript||n.*712C>T|||||3088|,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000487669|retained_intron||n.*736C>T|||||1630|,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|9/19|c.750-27C>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|9/19|c.654-27C>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|8/18|c.654-27C>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|7/17|c.516-27C>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000428937|nonsense_mediated_decay|6/7|n.*228-27C>T|||||| 22 19486598 . G A . . ANN=A|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000438587|protein_coding||c.*552G>A|||||4722|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000483431|processed_transcript||n.*712G>A|||||3089|,A|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000487669|retained_intron||n.*736G>A|||||1631|,A|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|9/19|c.750-26G>A||||||,A|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|9/19|c.654-26G>A||||||,A|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|8/18|c.654-26G>A||||||,A|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|7/17|c.516-26G>A||||||,A|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000428937|nonsense_mediated_decay|6/7|n.*228-26G>A|||||| 22 19486600 . C T . . ANN=T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000438587|protein_coding||c.*552C>T|||||4724|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000483431|processed_transcript||n.*712C>T|||||3091|,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000487669|retained_intron||n.*736C>T|||||1633|,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|9/19|c.750-24C>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|9/19|c.654-24C>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|8/18|c.654-24C>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|7/17|c.516-24C>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000428937|nonsense_mediated_decay|6/7|n.*228-24C>T|||||| 22 19486707 . G T . . ANN=T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000438587|protein_coding||c.*552G>T|||||4831|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000483431|processed_transcript||n.*712G>T|||||3198|,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000487669|retained_intron||n.*736G>T|||||1740|,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|10/19|c.800+33G>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|10/19|c.704+33G>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|9/18|c.704+33G>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|8/17|c.566+33G>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000428937|nonsense_mediated_decay|7/7|n.*278+33G>T|||||| 22 19492858 . C T . . ANN=T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|10/19|c.801-27C>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|10/19|c.705-27C>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|9/18|c.705-27C>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|8/17|c.567-27C>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000428937|nonsense_mediated_decay|7/7|n.*279-27C>T||||||,T|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000471470|retained_intron|1/5|n.282C>T|||||| 22 19492894 . C T . . ANN=T|synonymous_variant|LOW|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|11/20|c.810C>T|p.Tyr270Tyr|888/2007|810/1797|270/598||,T|synonymous_variant|LOW|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|11/20|c.714C>T|p.Tyr238Tyr|970/2090|714/1701|238/566||,T|synonymous_variant|LOW|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|10/19|c.714C>T|p.Tyr238Tyr|790/1909|714/1701|238/566||,T|synonymous_variant|LOW|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|9/18|c.576C>T|p.Tyr192Tyr|607/1693|576/1563|192/520||,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000428937|nonsense_mediated_decay||n.*290C>T|||||1|,T|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000471470|retained_intron|1/5|n.318C>T|||||| 22 19492948 . C T . . ANN=T|synonymous_variant|LOW|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|11/20|c.864C>T|p.Asn288Asn|942/2007|864/1797|288/598||,T|synonymous_variant|LOW|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|11/20|c.768C>T|p.Asn256Asn|1024/2090|768/1701|256/566||,T|synonymous_variant|LOW|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|10/19|c.768C>T|p.Asn256Asn|844/1909|768/1701|256/566||,T|synonymous_variant|LOW|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|9/18|c.630C>T|p.Asn210Asn|661/1693|630/1563|210/520||,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000428937|nonsense_mediated_decay||n.*290C>T|||||55|,T|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000471470|retained_intron|1/5|n.372C>T|||||| 22 19492987 . G A . . ANN=A|synonymous_variant|LOW|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|11/20|c.903G>A|p.Arg301Arg|981/2007|903/1797|301/598||,A|synonymous_variant|LOW|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|11/20|c.807G>A|p.Arg269Arg|1063/2090|807/1701|269/566||,A|synonymous_variant|LOW|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|10/19|c.807G>A|p.Arg269Arg|883/1909|807/1701|269/566||,A|synonymous_variant|LOW|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|9/18|c.669G>A|p.Arg223Arg|700/1693|669/1563|223/520||,A|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000428937|nonsense_mediated_decay||n.*290G>A|||||94|,A|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000471470|retained_intron|1/5|n.411G>A|||||| 22 19494978 . C T . . ANN=T|synonymous_variant|LOW|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|12/20|c.990C>T|p.Ala330Ala|1068/2007|990/1797|330/598||,T|synonymous_variant|LOW|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|12/20|c.894C>T|p.Ala298Ala|1150/2090|894/1701|298/566||,T|synonymous_variant|LOW|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|11/19|c.894C>T|p.Ala298Ala|970/1909|894/1701|298/566||,T|synonymous_variant|LOW|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|10/18|c.756C>T|p.Ala252Ala|787/1693|756/1563|252/520||,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000428937|nonsense_mediated_decay||n.*290C>T|||||2085|,T|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000471470|retained_intron|2/5|n.498C>T|||||| 22 19496080 . C G . . ANN=G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|14/20|c.1179C>G|p.Phe393Leu|1257/2007|1179/1797|393/598||,G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|14/20|c.1083C>G|p.Phe361Leu|1339/2090|1083/1701|361/566||,G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|13/19|c.1083C>G|p.Phe361Leu|1159/1909|1083/1701|361/566||,G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|12/18|c.945C>G|p.Phe315Leu|976/1693|945/1563|315/520||,G|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000428937|nonsense_mediated_decay||n.*290C>G|||||3187|,G|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000471470|retained_intron|4/5|n.687C>G|||||| 22 19496119 . C T . . ANN=T|synonymous_variant|LOW|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|14/20|c.1218C>T|p.Ser406Ser|1296/2007|1218/1797|406/598||,T|synonymous_variant|LOW|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|14/20|c.1122C>T|p.Ser374Ser|1378/2090|1122/1701|374/566||,T|synonymous_variant|LOW|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|13/19|c.1122C>T|p.Ser374Ser|1198/1909|1122/1701|374/566||,T|synonymous_variant|LOW|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|12/18|c.984C>T|p.Ser328Ser|1015/1693|984/1563|328/520||,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000428937|nonsense_mediated_decay||n.*290C>T|||||3226|,T|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000471470|retained_intron|4/5|n.726C>T|||||| 22 19496123 . G A . . ANN=A|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|14/20|c.1222G>A|p.Val408Met|1300/2007|1222/1797|408/598||,A|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|14/20|c.1126G>A|p.Val376Met|1382/2090|1126/1701|376/566||,A|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|13/19|c.1126G>A|p.Val376Met|1202/1909|1126/1701|376/566||,A|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|12/18|c.988G>A|p.Val330Met|1019/1693|988/1563|330/520||,A|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000428937|nonsense_mediated_decay||n.*290G>A|||||3230|,A|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000471470|retained_intron|4/5|n.730G>A|||||| 22 19496238 . C T . . ANN=T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000428937|nonsense_mediated_decay||n.*290C>T|||||3345|,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|14/19|c.1313+24C>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|14/19|c.1217+24C>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|13/18|c.1217+24C>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|12/17|c.1079+24C>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000471470|retained_intron|4/4|n.821+24C>T|||||| 22 19502238 . G A . . ANN=A|upstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000493724|retained_intron||n.-1G>A|||||1719|,A|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|14/19|c.1314-34G>A||||||,A|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|14/19|c.1218-34G>A||||||,A|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|13/18|c.1218-34G>A||||||,A|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|12/17|c.1080-34G>A||||||,A|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000471470|retained_intron|4/4|n.822-34G>A|||||| 22 19502300 . C G . . ANN=G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|15/20|c.1342C>G|p.Leu448Val|1420/2007|1342/1797|448/598||,G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|15/20|c.1246C>G|p.Leu416Val|1502/2090|1246/1701|416/566||,G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|14/19|c.1246C>G|p.Leu416Val|1322/1909|1246/1701|416/566||,G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|13/18|c.1108C>G|p.Leu370Val|1139/1693|1108/1563|370/520||,G|upstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000493724|retained_intron||n.-1C>G|||||1657|,G|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000471470|retained_intron|5/5|n.850C>G|||||| 22 19502445 . C T . . ANN=T|upstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000493724|retained_intron||n.-1C>T|||||1512|,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000471470|retained_intron||n.*857C>T|||||138|,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|15/19|c.1452+35C>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|15/19|c.1356+35C>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|14/18|c.1356+35C>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|13/17|c.1218+35C>T|||||| 22 19502488 . G A . . ANN=A|missense_variant&splice_region_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|16/20|c.1453G>A|p.Gly485Ser|1531/2007|1453/1797|485/598||,A|missense_variant&splice_region_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|16/20|c.1357G>A|p.Gly453Ser|1613/2090|1357/1701|453/566||,A|missense_variant&splice_region_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|15/19|c.1357G>A|p.Gly453Ser|1433/1909|1357/1701|453/566||,A|missense_variant&splice_region_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|14/18|c.1219G>A|p.Gly407Ser|1250/1693|1219/1563|407/520||,A|upstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000493724|retained_intron||n.-1G>A|||||1469|,A|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000471470|retained_intron||n.*857G>A|||||181| 22 19502547 . C T . . ANN=T|synonymous_variant|LOW|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|16/20|c.1512C>T|p.His504His|1590/2007|1512/1797|504/598||,T|synonymous_variant|LOW|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|16/20|c.1416C>T|p.His472His|1672/2090|1416/1701|472/566||,T|synonymous_variant|LOW|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|15/19|c.1416C>T|p.His472His|1492/1909|1416/1701|472/566||,T|synonymous_variant|LOW|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|14/18|c.1278C>T|p.His426His|1309/1693|1278/1563|426/520||,T|upstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000493724|retained_intron||n.-1C>T|||||1410|,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000471470|retained_intron||n.*857C>T|||||240| 22 19502588 . G C . . ANN=C|upstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000493724|retained_intron||n.-1G>C|||||1369|,C|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000471470|retained_intron||n.*857G>C|||||281|,C|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|16/19|c.1536+17G>C||||||,C|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|16/19|c.1440+17G>C||||||,C|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|15/18|c.1440+17G>C||||||,C|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|14/17|c.1302+17G>C|||||| 22 19504134 . A G . . ANN=G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|17/20|c.1621A>G|p.Ile541Val|1699/2007|1621/1797|541/598||,G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|17/20|c.1525A>G|p.Ile509Val|1781/2090|1525/1701|509/566||,G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|16/19|c.1525A>G|p.Ile509Val|1601/1909|1525/1701|509/566||,G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|15/18|c.1387A>G|p.Ile463Val|1418/1693|1387/1563|463/520||,G|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000471470|retained_intron||n.*857A>G|||||1827|,G|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000493724|retained_intron|1/4|n.178A>G|||||| 22 19504186 . G A . . ANN=A|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000471470|retained_intron||n.*857G>A|||||1879|,A|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|17/19|c.1655+18G>A||||||,A|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|17/19|c.1559+18G>A||||||,A|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|16/18|c.1559+18G>A||||||,A|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|15/17|c.1421+18G>A||||||,A|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000493724|retained_intron|1/3|n.212+18G>A|||||| 22 19504192 . G C . . ANN=C|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000471470|retained_intron||n.*857G>C|||||1885|,C|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|17/19|c.1655+24G>C||||||,C|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|17/19|c.1559+24G>C||||||,C|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|16/18|c.1559+24G>C||||||,C|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|15/17|c.1421+24G>C||||||,C|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000493724|retained_intron|1/3|n.212+24G>C|||||| 22 19504204 . CG C . . ANN=|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000471470|retained_intron||n.*857delG|||||1898|,|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|17/19|c.1655+41delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|17/19|c.1559+41delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|16/18|c.1559+41delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|15/17|c.1421+41delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000493724|retained_intron|1/3|n.212+41delG||||||INFO_REALIGN_3_PRIME 22 19504298 . T C . . ANN=C|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000471470|retained_intron||n.*857T>C|||||1991|,C|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|17/19|c.1656-42T>C||||||,C|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|17/19|c.1560-42T>C||||||,C|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|16/18|c.1560-42T>C||||||,C|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|15/17|c.1422-42T>C||||||,C|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000493724|retained_intron|1/3|n.213-42T>C|||||| 22 19504318 . G A . . ANN=A|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000471470|retained_intron||n.*857G>A|||||2011|,A|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|17/19|c.1656-22G>A||||||,A|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|17/19|c.1560-22G>A||||||,A|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|16/18|c.1560-22G>A||||||,A|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|15/17|c.1422-22G>A||||||,A|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000493724|retained_intron|1/3|n.213-22G>A|||||| 22 19504319 . A T . . ANN=T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000471470|retained_intron||n.*857A>T|||||2012|,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|17/19|c.1656-21A>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|17/19|c.1560-21A>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|16/18|c.1560-21A>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|15/17|c.1422-21A>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000493724|retained_intron|1/3|n.213-21A>T|||||| 22 19504328 . G T . . ANN=T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000471470|retained_intron||n.*857G>T|||||2021|,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|17/19|c.1656-12G>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|17/19|c.1560-12G>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|16/18|c.1560-12G>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|15/17|c.1422-12G>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000493724|retained_intron|1/3|n.213-12G>T|||||| 22 19504355 . G T . . ANN=T|synonymous_variant|LOW|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|18/20|c.1671G>T|p.Ala557Ala|1749/2007|1671/1797|557/598||,T|synonymous_variant|LOW|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|18/20|c.1575G>T|p.Ala525Ala|1831/2090|1575/1701|525/566||,T|synonymous_variant|LOW|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|17/19|c.1575G>T|p.Ala525Ala|1651/1909|1575/1701|525/566||,T|synonymous_variant|LOW|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|16/18|c.1437G>T|p.Ala479Ala|1468/1693|1437/1563|479/520||,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000471470|retained_intron||n.*857G>T|||||2048|,T|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000493724|retained_intron|2/4|n.228G>T|||||| 22 19504398 . A G . . ANN=G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|18/20|c.1714A>G|p.Asn572Asp|1792/2007|1714/1797|572/598||,G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|18/20|c.1618A>G|p.Asn540Asp|1874/2090|1618/1701|540/566||,G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|17/19|c.1618A>G|p.Asn540Asp|1694/1909|1618/1701|540/566||,G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|16/18|c.1480A>G|p.Asn494Asp|1511/1693|1480/1563|494/520||,G|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000471470|retained_intron||n.*857A>G|||||2091|,G|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000493724|retained_intron|2/4|n.271A>G|||||| 22 19506344 . C G . . ANN=G|downstream_gene_variant|MODIFIER|CLDN5|ENSG00000184113|transcript|ENST00000403084|protein_coding||c.*1785G>C|||||4206|,G|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000471470|retained_intron||n.*857C>G|||||4037|,G|downstream_gene_variant|MODIFIER|CLDN5|ENSG00000184113|transcript|ENST00000406028|protein_coding||c.*1973G>C|||||4203|,G|downstream_gene_variant|MODIFIER|CLDN5|ENSG00000184113|transcript|ENST00000413119|protein_coding||c.*1213G>C|||||4231|,G|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|18/19|c.1733-23C>G||||||,G|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|18/19|c.1637-23C>G||||||,G|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|17/18|c.1637-23C>G||||||,G|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|16/17|c.1499-23C>G||||||,G|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000493724|retained_intron|2/3|n.290-23C>G|||||| 22 19506456 . G T . . ANN=T|downstream_gene_variant|MODIFIER|CLDN5|ENSG00000184113|transcript|ENST00000403084|protein_coding||c.*1785C>A|||||4094|,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000471470|retained_intron||n.*857G>T|||||4149|,T|downstream_gene_variant|MODIFIER|CLDN5|ENSG00000184113|transcript|ENST00000406028|protein_coding||c.*1973C>A|||||4091|,T|downstream_gene_variant|MODIFIER|CLDN5|ENSG00000184113|transcript|ENST00000413119|protein_coding||c.*1213C>A|||||4119|,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|19/19|c.*1+24G>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|19/19|c.*1+24G>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|18/18|c.*1+24G>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|17/17|c.*1+24G>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000493724|retained_intron|3/3|n.355+24G>T|||||| 22 19506476 . C T . . ANN=T|downstream_gene_variant|MODIFIER|CLDN5|ENSG00000184113|transcript|ENST00000403084|protein_coding||c.*1785G>A|||||4074|,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000471470|retained_intron||n.*857C>T|||||4169|,T|downstream_gene_variant|MODIFIER|CLDN5|ENSG00000184113|transcript|ENST00000406028|protein_coding||c.*1973G>A|||||4071|,T|downstream_gene_variant|MODIFIER|CLDN5|ENSG00000184113|transcript|ENST00000413119|protein_coding||c.*1213G>A|||||4099|,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|19/19|c.*1+44C>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|19/19|c.*1+44C>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|18/18|c.*1+44C>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|17/17|c.*1+44C>T||||||,T|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000493724|retained_intron|3/3|n.355+44C>T|||||| 22 19511103 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|CLDN5|ENSG00000184113|transcript|ENST00000403084|protein_coding|1/1|c.*19G>A|||||19|,T|3_prime_UTR_variant|MODIFIER|CLDN5|ENSG00000184113|transcript|ENST00000406028|protein_coding|2/2|c.*19G>A|||||19|,T|3_prime_UTR_variant|MODIFIER|CLDN5|ENSG00000184113|transcript|ENST00000413119|protein_coding|2/2|c.*19G>A|||||19|,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding||c.*1875C>T|||||2969|,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding||c.*1957C>T|||||2968|,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding||c.*1777C>T|||||2969|,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding||c.*1594C>T|||||3002|,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000493724|retained_intron||n.*469C>T|||||2986| 22 19511229 . C T . . ANN=T|missense_variant|MODERATE|CLDN5|ENSG00000184113|transcript|ENST00000403084|protein_coding|1/1|c.805G>A|p.Gly269Ser|1678/2357|805/912|269/303||,T|missense_variant|MODERATE|CLDN5|ENSG00000184113|transcript|ENST00000406028|protein_coding|2/2|c.805G>A|p.Gly269Ser|1866/2548|805/912|269/303||,T|missense_variant|MODERATE|CLDN5|ENSG00000184113|transcript|ENST00000413119|protein_coding|2/2|c.805G>A|p.Gly269Ser|1106/1760|805/912|269/303||,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding||c.*1875C>T|||||3095|,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding||c.*1957C>T|||||3094|,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding||c.*1777C>T|||||3095|,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding||c.*1594C>T|||||3128|,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000493724|retained_intron||n.*469C>T|||||3112| 22 19511476 . G A . . ANN=A|synonymous_variant|LOW|CLDN5|ENSG00000184113|transcript|ENST00000403084|protein_coding|1/1|c.558C>T|p.Gly186Gly|1431/2357|558/912|186/303||,A|synonymous_variant|LOW|CLDN5|ENSG00000184113|transcript|ENST00000406028|protein_coding|2/2|c.558C>T|p.Gly186Gly|1619/2548|558/912|186/303||,A|synonymous_variant|LOW|CLDN5|ENSG00000184113|transcript|ENST00000413119|protein_coding|2/2|c.558C>T|p.Gly186Gly|859/1760|558/912|186/303||,A|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding||c.*1875G>A|||||3342|,A|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding||c.*1957G>A|||||3341|,A|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding||c.*1777G>A|||||3342|,A|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding||c.*1594G>A|||||3375|,A|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000493724|retained_intron||n.*469G>A|||||3359| 22 19511479 . C T . . ANN=T|synonymous_variant|LOW|CLDN5|ENSG00000184113|transcript|ENST00000403084|protein_coding|1/1|c.555G>A|p.Ala185Ala|1428/2357|555/912|185/303||,T|synonymous_variant|LOW|CLDN5|ENSG00000184113|transcript|ENST00000406028|protein_coding|2/2|c.555G>A|p.Ala185Ala|1616/2548|555/912|185/303||,T|synonymous_variant|LOW|CLDN5|ENSG00000184113|transcript|ENST00000413119|protein_coding|2/2|c.555G>A|p.Ala185Ala|856/1760|555/912|185/303||,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding||c.*1875C>T|||||3345|,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding||c.*1957C>T|||||3344|,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding||c.*1777C>T|||||3345|,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding||c.*1594C>T|||||3378|,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000493724|retained_intron||n.*469C>T|||||3362| 22 19511515 . C T . . ANN=T|synonymous_variant|LOW|CLDN5|ENSG00000184113|transcript|ENST00000403084|protein_coding|1/1|c.519G>A|p.Val173Val|1392/2357|519/912|173/303||,T|synonymous_variant|LOW|CLDN5|ENSG00000184113|transcript|ENST00000406028|protein_coding|2/2|c.519G>A|p.Val173Val|1580/2548|519/912|173/303||,T|synonymous_variant|LOW|CLDN5|ENSG00000184113|transcript|ENST00000413119|protein_coding|2/2|c.519G>A|p.Val173Val|820/1760|519/912|173/303||,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding||c.*1875C>T|||||3381|,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding||c.*1957C>T|||||3380|,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding||c.*1777C>T|||||3381|,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding||c.*1594C>T|||||3414|,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000493724|retained_intron||n.*469C>T|||||3398| 22 19511520 . C T . . ANN=T|missense_variant|MODERATE|CLDN5|ENSG00000184113|transcript|ENST00000403084|protein_coding|1/1|c.514G>A|p.Ala172Thr|1387/2357|514/912|172/303||,T|missense_variant|MODERATE|CLDN5|ENSG00000184113|transcript|ENST00000406028|protein_coding|2/2|c.514G>A|p.Ala172Thr|1575/2548|514/912|172/303||,T|missense_variant|MODERATE|CLDN5|ENSG00000184113|transcript|ENST00000413119|protein_coding|2/2|c.514G>A|p.Ala172Thr|815/1760|514/912|172/303||,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding||c.*1875C>T|||||3386|,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding||c.*1957C>T|||||3385|,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding||c.*1777C>T|||||3386|,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding||c.*1594C>T|||||3419|,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000493724|retained_intron||n.*469C>T|||||3403| 22 19511539 . C T . . ANN=T|synonymous_variant|LOW|CLDN5|ENSG00000184113|transcript|ENST00000403084|protein_coding|1/1|c.495G>A|p.Ala165Ala|1368/2357|495/912|165/303||,T|synonymous_variant|LOW|CLDN5|ENSG00000184113|transcript|ENST00000406028|protein_coding|2/2|c.495G>A|p.Ala165Ala|1556/2548|495/912|165/303||,T|synonymous_variant|LOW|CLDN5|ENSG00000184113|transcript|ENST00000413119|protein_coding|2/2|c.495G>A|p.Ala165Ala|796/1760|495/912|165/303||,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding||c.*1875C>T|||||3405|,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding||c.*1957C>T|||||3404|,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding||c.*1777C>T|||||3405|,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding||c.*1594C>T|||||3438|,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000493724|retained_intron||n.*469C>T|||||3422| 22 19511780 . G C . . ANN=C|missense_variant|MODERATE|CLDN5|ENSG00000184113|transcript|ENST00000403084|protein_coding|1/1|c.254C>G|p.Ala85Gly|1127/2357|254/912|85/303||,C|missense_variant|MODERATE|CLDN5|ENSG00000184113|transcript|ENST00000406028|protein_coding|2/2|c.254C>G|p.Ala85Gly|1315/2548|254/912|85/303||,C|missense_variant|MODERATE|CLDN5|ENSG00000184113|transcript|ENST00000413119|protein_coding|2/2|c.254C>G|p.Ala85Gly|555/1760|254/912|85/303||,C|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding||c.*1875G>C|||||3646|,C|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding||c.*1957G>C|||||3645|,C|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding||c.*1777G>C|||||3646|,C|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding||c.*1594G>C|||||3679|,C|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000493724|retained_intron||n.*469G>C|||||3663| 22 19702274 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000412544|protein_coding|1/10|c.-128C>T|||||4938|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000383045|protein_coding||c.-307C>T|||||3681|,T|upstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000455843|nonsense_mediated_decay||n.-1519C>T|||||2469|,T|upstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000431124|protein_coding||c.-9C>T|||||2519|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000490204|processed_transcript||n.-1C>T|||||3408|,T|upstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000438754|protein_coding||c.-281C>T|||||3707|,T|upstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000431044|nonsense_mediated_decay||n.-191C>T|||||3718|,T|upstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000395109|protein_coding||c.-255C>T|||||4684|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000477238|retained_intron||n.-1C>T|||||4779|,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000455784|protein_coding|1/11|c.44-30C>T||||||,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000406395|protein_coding|1/11|c.44-30C>T||||||,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000406172|nonsense_mediated_decay|1/9|n.44-30C>T|||||| 22 19707076 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000395109|protein_coding|1/6|c.-136G>A|||||136|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|GP1BB|ENSG00000203618|transcript|ENST00000366425|protein_coding||c.-626G>A|||||3392|,A|upstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000413258|protein_coding||c.-2G>A|||||635|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000480423|retained_intron||n.-1G>A|||||789|,A|upstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000470814|retained_intron||n.-1G>A|||||1001|,A|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000490204|processed_transcript||n.*774G>A|||||498|,A|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000383045|protein_coding|1/10|c.82-49G>A||||||,A|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000455784|protein_coding|2/11|c.55-49G>A||||||,A|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000406395|protein_coding|2/11|c.55-49G>A||||||,A|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000406172|nonsense_mediated_decay|2/9|n.55-49G>A||||||,A|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000412544|protein_coding|1/9|c.-87-49G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000455843|nonsense_mediated_decay|1/11|n.82-49G>A||||||,A|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000431124|protein_coding|1/7|c.169-49G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000438754|protein_coding|1/10|c.82-49G>A||||||,A|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000431044|nonsense_mediated_decay|1/11|n.-87-49G>A||||||,A|non_coding_exon_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000477238|retained_intron|1/2|n.24G>A|||||| 22 19707096 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000395109|protein_coding|1/6|c.-116G>A|||||116|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|GP1BB|ENSG00000203618|transcript|ENST00000366425|protein_coding||c.-626G>A|||||3372|,A|upstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000413258|protein_coding||c.-2G>A|||||615|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000480423|retained_intron||n.-1G>A|||||769|,A|upstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000470814|retained_intron||n.-1G>A|||||981|,A|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000490204|processed_transcript||n.*774G>A|||||518|,A|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000383045|protein_coding|1/10|c.82-29G>A||||||,A|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000455784|protein_coding|2/11|c.55-29G>A||||||,A|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000406395|protein_coding|2/11|c.55-29G>A||||||,A|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000406172|nonsense_mediated_decay|2/9|n.55-29G>A||||||,A|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000412544|protein_coding|1/9|c.-87-29G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000455843|nonsense_mediated_decay|1/11|n.82-29G>A||||||,A|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000431124|protein_coding|1/7|c.169-29G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000438754|protein_coding|1/10|c.82-29G>A||||||,A|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000431044|nonsense_mediated_decay|1/11|n.-87-29G>A||||||,A|non_coding_exon_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000477238|retained_intron|1/2|n.44G>A|||||| 22 19707112 . A G . . ANN=G|5_prime_UTR_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000395109|protein_coding|1/6|c.-100A>G|||||100|WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|GP1BB|ENSG00000203618|transcript|ENST00000366425|protein_coding||c.-626A>G|||||3356|,G|upstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000413258|protein_coding||c.-2A>G|||||599|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000480423|retained_intron||n.-1A>G|||||753|,G|upstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000470814|retained_intron||n.-1A>G|||||965|,G|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000490204|processed_transcript||n.*774A>G|||||534|,G|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000383045|protein_coding|1/10|c.82-13A>G||||||,G|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000455784|protein_coding|2/11|c.55-13A>G||||||,G|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000406395|protein_coding|2/11|c.55-13A>G||||||,G|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000406172|nonsense_mediated_decay|2/9|n.55-13A>G||||||,G|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000412544|protein_coding|1/9|c.-87-13A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000455843|nonsense_mediated_decay|1/11|n.82-13A>G||||||,G|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000431124|protein_coding|1/7|c.169-13A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000438754|protein_coding|1/10|c.82-13A>G||||||,G|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000431044|nonsense_mediated_decay|1/11|n.-87-13A>G||||||,G|non_coding_exon_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000477238|retained_intron|1/2|n.60A>G|||||| 22 19707280 . C T . . ANN=T|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|4/12|c.152-49C>T||||||,T|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|10/12|c.152-49C>T||||||,T|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|3/12|c.152-49C>T||||||,T|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|6/12|c.152-49C>T||||||,T|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|7/12|c.152-49C>T||||||,T|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|9/12|c.152-49C>T||||||,T|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|8/12|c.152-49C>T||||||,T|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|5/12|c.152-49C>T||||||,T|sequence_feature|LOW|SEPT5|ENSG00000184702|nucleotide_phosphate-binding_region:GTP|ENST00000455784|protein_coding|4/12|c.152-49C>T||||||,T|sequence_feature|LOW|SEPT5|ENSG00000184702|nucleotide_phosphate-binding_region:GTP|ENST00000455784|protein_coding|3/12|c.152-49C>T||||||,T|sequence_feature|LOW|SEPT5|ENSG00000184702|nucleotide_phosphate-binding_region:GTP|ENST00000438754|protein_coding|3/11|c.179-49C>T||||||,T|sequence_feature|LOW|SEPT5|ENSG00000184702|nucleotide_phosphate-binding_region:GTP|ENST00000438754|protein_coding|2/11|c.179-49C>T||||||,T|upstream_gene_variant|MODIFIER|GP1BB|ENSG00000203618|transcript|ENST00000366425|protein_coding||c.-626C>T|||||3188|,T|upstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000413258|protein_coding||c.-2C>T|||||431|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000480423|retained_intron||n.-1C>T|||||585|,T|upstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000470814|retained_intron||n.-1C>T|||||797|,T|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000490204|processed_transcript||n.*774C>T|||||702|,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000383045|protein_coding|2/10|c.179-49C>T||||||,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000455784|protein_coding|3/11|c.152-49C>T||||||,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000406395|protein_coding|3/11|c.152-49C>T||||||,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000406172|nonsense_mediated_decay|3/9|n.152-49C>T||||||,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000412544|protein_coding|2/9|c.11-49C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000455843|nonsense_mediated_decay|2/11|n.179-49C>T||||||,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000431124|protein_coding|2/7|c.266-49C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000438754|protein_coding|2/10|c.179-49C>T||||||,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000431044|nonsense_mediated_decay|2/11|n.11-49C>T||||||,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000395109|protein_coding|1/5|c.11-49C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000477238|retained_intron|1/1|n.170-49C>T|||||| 22 19707435 . C T . . ANN=T|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|4/12|c.238+20C>T||||||,T|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|10/12|c.238+20C>T||||||,T|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|3/12|c.238+20C>T||||||,T|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|6/12|c.238+20C>T||||||,T|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|7/12|c.238+20C>T||||||,T|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|9/12|c.238+20C>T||||||,T|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|8/12|c.238+20C>T||||||,T|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|5/12|c.238+20C>T||||||,T|upstream_gene_variant|MODIFIER|GP1BB|ENSG00000203618|transcript|ENST00000366425|protein_coding||c.-626C>T|||||3033|,T|upstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000413258|protein_coding||c.-2C>T|||||276|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000480423|retained_intron||n.-1C>T|||||430|,T|upstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000470814|retained_intron||n.-1C>T|||||642|,T|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000490204|processed_transcript||n.*774C>T|||||857|,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000383045|protein_coding|3/10|c.265+20C>T||||||,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000455784|protein_coding|4/11|c.238+20C>T||||||,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000406395|protein_coding|4/11|c.238+20C>T||||||,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000406172|nonsense_mediated_decay|4/9|n.238+20C>T||||||,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000412544|protein_coding|3/9|c.97+20C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000455843|nonsense_mediated_decay|3/11|n.265+20C>T||||||,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000431124|protein_coding|3/7|c.352+20C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000438754|protein_coding|3/10|c.265+20C>T||||||,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000431044|nonsense_mediated_decay|3/11|n.97+20C>T||||||,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000395109|protein_coding|2/5|c.97+20C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000477238|retained_intron|2/2|n.276C>T|||||| 22 19707596 . C CT . . ANN=T|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|4/12|c.239-42_239-41insT||||||,T|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|10/12|c.239-42_239-41insT||||||,T|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|3/12|c.239-42_239-41insT||||||,T|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|6/12|c.239-42_239-41insT||||||,T|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|7/12|c.239-42_239-41insT||||||,T|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|9/12|c.239-42_239-41insT||||||,T|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|8/12|c.239-42_239-41insT||||||,T|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|5/12|c.239-42_239-41insT||||||,T|upstream_gene_variant|MODIFIER|GP1BB|ENSG00000203618|transcript|ENST00000366425|protein_coding||c.-626_-626insT|||||2871|,T|upstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000413258|protein_coding||c.-2_-2insT|||||114|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000480423|retained_intron||n.-1_-1insT|||||268|,T|upstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000470814|retained_intron||n.-1_-1insT|||||480|,T|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000490204|processed_transcript||n.*774_*774insT|||||1019|,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000383045|protein_coding|3/10|c.266-41dupT||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000455784|protein_coding|4/11|c.239-41dupT||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000406395|protein_coding|4/11|c.239-41dupT||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000406172|nonsense_mediated_decay|4/9|n.239-41dupT||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000412544|protein_coding|3/9|c.98-41dupT||||||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000455843|nonsense_mediated_decay|3/11|n.266-41dupT||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000431124|protein_coding|3/7|c.353-41dupT||||||WARNING_TRANSCRIPT_NO_STOP_CODON&INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000438754|protein_coding|3/10|c.266-41dupT||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000431044|nonsense_mediated_decay|3/11|n.98-41dupT||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000395109|protein_coding|2/5|c.98-41dupT||||||WARNING_TRANSCRIPT_NO_STOP_CODON&INFO_REALIGN_3_PRIME,T|non_coding_exon_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000477238|retained_intron|2/2|n.438dupT||||||INFO_REALIGN_3_PRIME 22 19707622 . G A . . ANN=A|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|4/12|c.239-16G>A||||||,A|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|10/12|c.239-16G>A||||||,A|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|3/12|c.239-16G>A||||||,A|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|6/12|c.239-16G>A||||||,A|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|7/12|c.239-16G>A||||||,A|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|9/12|c.239-16G>A||||||,A|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|8/12|c.239-16G>A||||||,A|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|5/12|c.239-16G>A||||||,A|upstream_gene_variant|MODIFIER|GP1BB|ENSG00000203618|transcript|ENST00000366425|protein_coding||c.-626G>A|||||2846|,A|upstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000413258|protein_coding||c.-2G>A|||||89|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000480423|retained_intron||n.-1G>A|||||243|,A|upstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000470814|retained_intron||n.-1G>A|||||455|,A|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000490204|processed_transcript||n.*774G>A|||||1044|,A|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000383045|protein_coding|3/10|c.266-16G>A||||||,A|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000455784|protein_coding|4/11|c.239-16G>A||||||,A|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000406395|protein_coding|4/11|c.239-16G>A||||||,A|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000406172|nonsense_mediated_decay|4/9|n.239-16G>A||||||,A|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000412544|protein_coding|3/9|c.98-16G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000455843|nonsense_mediated_decay|3/11|n.266-16G>A||||||,A|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000431124|protein_coding|3/7|c.353-16G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000438754|protein_coding|3/10|c.266-16G>A||||||,A|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000431044|nonsense_mediated_decay|3/11|n.98-16G>A||||||,A|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000395109|protein_coding|2/5|c.98-16G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000477238|retained_intron|2/2|n.463G>A|||||| 22 19707757 . G A . . ANN=A|missense_variant|MODERATE|SEPT5|ENSG00000184702|transcript|ENST00000383045|protein_coding|4/11|c.385G>A|p.Glu129Lys|691/1588|385/1137|129/378||,A|missense_variant|MODERATE|SEPT5|ENSG00000184702|transcript|ENST00000455784|protein_coding|5/12|c.358G>A|p.Glu120Lys|483/2070|358/1110|120/369||,A|missense_variant|MODERATE|SEPT5|ENSG00000184702|transcript|ENST00000406395|protein_coding|5/12|c.358G>A|p.Glu120Lys|443/1974|358/1014|120/337||,A|missense_variant|MODERATE|SEPT5|ENSG00000184702|transcript|ENST00000412544|protein_coding|4/10|c.217G>A|p.Glu73Lys|421/1108|217/904|73/300||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|SEPT5|ENSG00000184702|transcript|ENST00000431124|protein_coding|4/8|c.472G>A|p.Glu158Lys|480/920|472/912|158/303||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|SEPT5|ENSG00000184702|transcript|ENST00000438754|protein_coding|4/11|c.385G>A|p.Glu129Lys|665/2241|385/1041|129/346||,A|missense_variant|MODERATE|SEPT5|ENSG00000184702|transcript|ENST00000395109|protein_coding|3/6|c.217G>A|p.Glu73Lys|471/794|217/540|73/179||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|SEPT5|ENSG00000184702|transcript|ENST00000413258|protein_coding|1/4|c.46G>A|p.Glu16Lys|47/318|46/317|16/104||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|4/12|c.358G>A||||||,A|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|10/12|c.358G>A||||||,A|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|3/12|c.358G>A||||||,A|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|6/12|c.358G>A||||||,A|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|7/12|c.358G>A||||||,A|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|9/12|c.358G>A||||||,A|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|8/12|c.358G>A||||||,A|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|5/12|c.358G>A||||||,A|upstream_gene_variant|MODIFIER|GP1BB|ENSG00000203618|transcript|ENST00000366425|protein_coding||c.-626G>A|||||2711|,A|upstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000480423|retained_intron||n.-1G>A|||||108|,A|upstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000470814|retained_intron||n.-1G>A|||||320|,A|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000490204|processed_transcript||n.*774G>A|||||1179|,A|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000477238|retained_intron||n.*577G>A|||||21|,A|non_coding_exon_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000406172|nonsense_mediated_decay|5/10|n.358G>A||||||,A|non_coding_exon_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000455843|nonsense_mediated_decay|4/12|n.385G>A||||||,A|non_coding_exon_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000431044|nonsense_mediated_decay|4/12|n.217G>A|||||| 22 19707797 . C T . . ANN=T|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|4/12|c.362+36C>T||||||,T|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|10/12|c.362+36C>T||||||,T|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|3/12|c.362+36C>T||||||,T|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|6/12|c.362+36C>T||||||,T|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|7/12|c.362+36C>T||||||,T|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|9/12|c.362+36C>T||||||,T|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|8/12|c.362+36C>T||||||,T|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|5/12|c.362+36C>T||||||,T|upstream_gene_variant|MODIFIER|GP1BB|ENSG00000203618|transcript|ENST00000366425|protein_coding||c.-626C>T|||||2671|,T|upstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000480423|retained_intron||n.-1C>T|||||68|,T|upstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000470814|retained_intron||n.-1C>T|||||280|,T|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000490204|processed_transcript||n.*774C>T|||||1219|,T|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000477238|retained_intron||n.*577C>T|||||61|,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000383045|protein_coding|4/10|c.389+36C>T||||||,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000455784|protein_coding|5/11|c.362+36C>T||||||,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000406395|protein_coding|5/11|c.362+36C>T||||||,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000406172|nonsense_mediated_decay|5/9|n.362+36C>T||||||,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000412544|protein_coding|4/9|c.221+36C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000455843|nonsense_mediated_decay|4/11|n.389+36C>T||||||,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000431124|protein_coding|4/7|c.476+36C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000438754|protein_coding|4/10|c.389+36C>T||||||,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000431044|nonsense_mediated_decay|4/11|n.221+36C>T||||||,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000395109|protein_coding|3/5|c.221+36C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000413258|protein_coding|1/3|c.50+36C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 19707803 . C CA . . ANN=A|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|4/12|c.363-40_363-39insA||||||,A|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|10/12|c.363-40_363-39insA||||||,A|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|3/12|c.363-40_363-39insA||||||,A|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|6/12|c.363-40_363-39insA||||||,A|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|7/12|c.363-40_363-39insA||||||,A|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|9/12|c.363-40_363-39insA||||||,A|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|8/12|c.363-40_363-39insA||||||,A|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|5/12|c.363-40_363-39insA||||||,A|upstream_gene_variant|MODIFIER|GP1BB|ENSG00000203618|transcript|ENST00000366425|protein_coding||c.-626_-626insA|||||2664|,A|upstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000480423|retained_intron||n.-1_-1insA|||||61|,A|upstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000470814|retained_intron||n.-1_-1insA|||||273|,A|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000490204|processed_transcript||n.*774_*774insA|||||1226|,A|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000477238|retained_intron||n.*577_*577insA|||||68|,A|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000383045|protein_coding|4/10|c.390-39dupA||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000455784|protein_coding|5/11|c.363-39dupA||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000406395|protein_coding|5/11|c.363-39dupA||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000406172|nonsense_mediated_decay|5/9|n.363-39dupA||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000412544|protein_coding|4/9|c.222-39dupA||||||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000455843|nonsense_mediated_decay|4/11|n.390-39dupA||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000431124|protein_coding|4/7|c.477-39dupA||||||WARNING_TRANSCRIPT_NO_STOP_CODON&INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000438754|protein_coding|4/10|c.390-39dupA||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000431044|nonsense_mediated_decay|4/11|n.222-39dupA||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000395109|protein_coding|3/5|c.222-39dupA||||||WARNING_TRANSCRIPT_NO_STOP_CODON&INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000413258|protein_coding|1/3|c.51-39dupA||||||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME 22 19707810 . C T . . ANN=T|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|4/12|c.363-33C>T||||||,T|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|10/12|c.363-33C>T||||||,T|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|3/12|c.363-33C>T||||||,T|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|6/12|c.363-33C>T||||||,T|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|7/12|c.363-33C>T||||||,T|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|9/12|c.363-33C>T||||||,T|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|8/12|c.363-33C>T||||||,T|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|5/12|c.363-33C>T||||||,T|upstream_gene_variant|MODIFIER|GP1BB|ENSG00000203618|transcript|ENST00000366425|protein_coding||c.-626C>T|||||2658|,T|upstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000480423|retained_intron||n.-1C>T|||||55|,T|upstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000470814|retained_intron||n.-1C>T|||||267|,T|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000490204|processed_transcript||n.*774C>T|||||1232|,T|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000477238|retained_intron||n.*577C>T|||||74|,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000383045|protein_coding|4/10|c.390-33C>T||||||,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000455784|protein_coding|5/11|c.363-33C>T||||||,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000406395|protein_coding|5/11|c.363-33C>T||||||,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000406172|nonsense_mediated_decay|5/9|n.363-33C>T||||||,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000412544|protein_coding|4/9|c.222-33C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000455843|nonsense_mediated_decay|4/11|n.390-33C>T||||||,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000431124|protein_coding|4/7|c.477-33C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000438754|protein_coding|4/10|c.390-33C>T||||||,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000431044|nonsense_mediated_decay|4/11|n.222-33C>T||||||,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000395109|protein_coding|3/5|c.222-33C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000413258|protein_coding|1/3|c.51-33C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 19708074 . T C . . ANN=C|missense_variant&splice_region_variant|MODERATE|SEPT5|ENSG00000184702|transcript|ENST00000383045|protein_coding|6/11|c.527T>C|p.Leu176Pro|833/1588|527/1137|176/378||,C|missense_variant&splice_region_variant|MODERATE|SEPT5|ENSG00000184702|transcript|ENST00000455784|protein_coding|7/12|c.500T>C|p.Leu167Pro|625/2070|500/1110|167/369||,C|missense_variant&splice_region_variant|MODERATE|SEPT5|ENSG00000184702|transcript|ENST00000406395|protein_coding|7/12|c.500T>C|p.Leu167Pro|585/1974|500/1014|167/337||,C|missense_variant&splice_region_variant|MODERATE|SEPT5|ENSG00000184702|transcript|ENST00000412544|protein_coding|6/10|c.359T>C|p.Leu120Pro|563/1108|359/904|120/300||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant&splice_region_variant|MODERATE|SEPT5|ENSG00000184702|transcript|ENST00000431124|protein_coding|6/8|c.614T>C|p.Leu205Pro|622/920|614/912|205/303||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant&splice_region_variant|MODERATE|SEPT5|ENSG00000184702|transcript|ENST00000438754|protein_coding|6/11|c.527T>C|p.Leu176Pro|807/2241|527/1041|176/346||,C|missense_variant&splice_region_variant|MODERATE|SEPT5|ENSG00000184702|transcript|ENST00000395109|protein_coding|5/6|c.359T>C|p.Leu120Pro|613/794|359/540|120/179||WARNING_TRANSCRIPT_NO_STOP_CODON,C|splice_region_variant&non_coding_exon_variant|LOW|SEPT5|ENSG00000184702|transcript|ENST00000406172|nonsense_mediated_decay|7/10|n.500T>C||||||,C|splice_region_variant&non_coding_exon_variant|LOW|SEPT5|ENSG00000184702|transcript|ENST00000455843|nonsense_mediated_decay|6/12|n.527T>C||||||,C|splice_region_variant&non_coding_exon_variant|LOW|SEPT5|ENSG00000184702|transcript|ENST00000431044|nonsense_mediated_decay|6/12|n.359T>C||||||,C|splice_region_variant&non_coding_exon_variant|LOW|SEPT5|ENSG00000184702|transcript|ENST00000480423|retained_intron|2/4|n.116T>C||||||,C|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|4/12|c.500T>C||||||,C|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|10/12|c.500T>C||||||,C|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|3/12|c.500T>C||||||,C|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|6/12|c.500T>C||||||,C|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|7/12|c.500T>C||||||,C|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|9/12|c.500T>C||||||,C|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|8/12|c.500T>C||||||,C|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|5/12|c.500T>C||||||,C|upstream_gene_variant|MODIFIER|GP1BB|ENSG00000203618|transcript|ENST00000366425|protein_coding||c.-626T>C|||||2394|,C|upstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000470814|retained_intron||n.-1T>C|||||3|,C|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000490204|processed_transcript||n.*774T>C|||||1496|,C|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000477238|retained_intron||n.*577T>C|||||338|,C|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000413258|protein_coding|2/3|c.186-91T>C||||||WARNING_TRANSCRIPT_INCOMPLETE 22 19708247 . G A . . ANN=A|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|4/12|c.616-44G>A||||||,A|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|10/12|c.616-44G>A||||||,A|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|3/12|c.616-44G>A||||||,A|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|6/12|c.616-44G>A||||||,A|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|7/12|c.616-44G>A||||||,A|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|9/12|c.616-44G>A||||||,A|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|8/12|c.616-44G>A||||||,A|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|5/12|c.616-44G>A||||||,A|upstream_gene_variant|MODIFIER|GP1BB|ENSG00000203618|transcript|ENST00000366425|protein_coding||c.-626G>A|||||2221|,A|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000490204|processed_transcript||n.*774G>A|||||1669|,A|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000477238|retained_intron||n.*577G>A|||||511|,A|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000383045|protein_coding|6/10|c.643-44G>A||||||,A|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000455784|protein_coding|7/11|c.616-44G>A||||||,A|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000406395|protein_coding|7/11|c.616-44G>A||||||,A|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000406172|nonsense_mediated_decay|7/9|n.616-44G>A||||||,A|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000412544|protein_coding|6/9|c.475-44G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000455843|nonsense_mediated_decay|6/11|n.643-44G>A||||||,A|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000431124|protein_coding|6/7|c.730-44G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000438754|protein_coding|6/10|c.643-44G>A||||||,A|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000431044|nonsense_mediated_decay|6/11|n.475-44G>A||||||,A|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000395109|protein_coding|5/5|c.475-44G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000413258|protein_coding|3/3|c.211-44G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000480423|retained_intron|2/3|n.232-44G>A||||||,A|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000470814|retained_intron|1/5|n.114-44G>A|||||| 22 19708374 . G A . . ANN=A|synonymous_variant|LOW|SEPT5|ENSG00000184702|transcript|ENST00000383045|protein_coding|7/11|c.726G>A|p.Gln242Gln|1032/1588|726/1137|242/378||,A|synonymous_variant|LOW|SEPT5|ENSG00000184702|transcript|ENST00000455784|protein_coding|8/12|c.699G>A|p.Gln233Gln|824/2070|699/1110|233/369||,A|synonymous_variant|LOW|SEPT5|ENSG00000184702|transcript|ENST00000406395|protein_coding|8/12|c.699G>A|p.Gln233Gln|784/1974|699/1014|233/337||,A|synonymous_variant|LOW|SEPT5|ENSG00000184702|transcript|ENST00000412544|protein_coding|7/10|c.558G>A|p.Gln186Gln|762/1108|558/904|186/300||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|SEPT5|ENSG00000184702|transcript|ENST00000431124|protein_coding|7/8|c.813G>A|p.Gln271Gln|821/920|813/912|271/303||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|SEPT5|ENSG00000184702|transcript|ENST00000438754|protein_coding|7/11|c.726G>A|p.Gln242Gln|1006/2241|726/1041|242/346||,A|synonymous_variant|LOW|SEPT5|ENSG00000184702|transcript|ENST00000413258|protein_coding|4/4|c.294G>A|p.Gln98Gln|295/318|294/317|98/104||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|4/12|c.699G>A||||||,A|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|10/12|c.699G>A||||||,A|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|3/12|c.699G>A||||||,A|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|6/12|c.699G>A||||||,A|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|7/12|c.699G>A||||||,A|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|9/12|c.699G>A||||||,A|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|8/12|c.699G>A||||||,A|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|5/12|c.699G>A||||||,A|upstream_gene_variant|MODIFIER|GP1BB|ENSG00000203618|transcript|ENST00000366425|protein_coding||c.-626G>A|||||2094|,A|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000490204|processed_transcript||n.*774G>A|||||1796|,A|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000395109|protein_coding||c.*794G>A|||||18|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000477238|retained_intron||n.*577G>A|||||638|,A|non_coding_exon_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000406172|nonsense_mediated_decay|8/10|n.699G>A||||||,A|non_coding_exon_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000455843|nonsense_mediated_decay|7/12|n.726G>A||||||,A|non_coding_exon_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000431044|nonsense_mediated_decay|7/12|n.558G>A||||||,A|non_coding_exon_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000480423|retained_intron|3/4|n.315G>A||||||,A|non_coding_exon_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000470814|retained_intron|2/6|n.197G>A|||||| 22 19708414 . G T . . ANN=T|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|4/12|c.717+22G>T||||||,T|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|10/12|c.717+22G>T||||||,T|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|3/12|c.717+22G>T||||||,T|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|6/12|c.717+22G>T||||||,T|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|7/12|c.717+22G>T||||||,T|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|9/12|c.717+22G>T||||||,T|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|8/12|c.717+22G>T||||||,T|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|5/12|c.717+22G>T||||||,T|upstream_gene_variant|MODIFIER|GP1BB|ENSG00000203618|transcript|ENST00000366425|protein_coding||c.-626G>T|||||2054|,T|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000490204|processed_transcript||n.*774G>T|||||1836|,T|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000395109|protein_coding||c.*794G>T|||||58|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000477238|retained_intron||n.*577G>T|||||678|,T|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000413258|protein_coding||c.*318G>T|||||17|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000383045|protein_coding|7/10|c.744+22G>T||||||,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000455784|protein_coding|8/11|c.717+22G>T||||||,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000406395|protein_coding|8/11|c.717+22G>T||||||,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000406172|nonsense_mediated_decay|8/9|n.717+22G>T||||||,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000412544|protein_coding|7/9|c.576+22G>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000455843|nonsense_mediated_decay|7/11|n.744+22G>T||||||,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000431124|protein_coding|7/7|c.831+22G>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000438754|protein_coding|7/10|c.744+22G>T||||||,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000431044|nonsense_mediated_decay|7/11|n.576+22G>T||||||,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000480423|retained_intron|3/3|n.333+22G>T||||||,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000470814|retained_intron|2/5|n.215+22G>T|||||| 22 19709460 . C G . . ANN=G|missense_variant|MODERATE|SEPT5|ENSG00000184702|transcript|ENST00000383045|protein_coding|9/11|c.957C>G|p.His319Gln|1263/1588|957/1137|319/378||,G|missense_variant|MODERATE|SEPT5|ENSG00000184702|transcript|ENST00000455784|protein_coding|10/12|c.930C>G|p.His310Gln|1055/2070|930/1110|310/369||,G|missense_variant|MODERATE|SEPT5|ENSG00000184702|transcript|ENST00000406395|protein_coding|10/12|c.919C>G|p.Leu307Val|1004/1974|919/1014|307/337||,G|missense_variant|MODERATE|SEPT5|ENSG00000184702|transcript|ENST00000412544|protein_coding|9/10|c.789C>G|p.His263Gln|993/1108|789/904|263/300||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|SEPT5|ENSG00000184702|transcript|ENST00000438754|protein_coding|9/11|c.946C>G|p.Leu316Val|1226/2241|946/1041|316/346||,G|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|4/12|c.930C>G||||||,G|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|10/12|c.930C>G||||||,G|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|3/12|c.930C>G||||||,G|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|6/12|c.930C>G||||||,G|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|7/12|c.930C>G||||||,G|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|9/12|c.930C>G||||||,G|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|8/12|c.930C>G||||||,G|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|5/12|c.930C>G||||||,G|3_prime_UTR_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000406172|nonsense_mediated_decay|9/10|n.*86C>G|||||86|,G|upstream_gene_variant|MODIFIER|GP1BB|ENSG00000203618|transcript|ENST00000366425|protein_coding||c.-626C>G|||||1008|,G|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000431124|protein_coding||c.*920C>G|||||217|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000490204|processed_transcript||n.*774C>G|||||2882|,G|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000395109|protein_coding||c.*794C>G|||||1104|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000477238|retained_intron||n.*577C>G|||||1724|,G|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000413258|protein_coding||c.*318C>G|||||1063|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000480423|retained_intron||n.*563C>G|||||68|,G|non_coding_exon_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000406172|nonsense_mediated_decay|9/10|n.*86C>G||||||,G|non_coding_exon_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000455843|nonsense_mediated_decay|9/12|n.957C>G||||||,G|non_coding_exon_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000431044|nonsense_mediated_decay|9/12|n.789C>G||||||,G|non_coding_exon_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000470814|retained_intron|4/6|n.428C>G|||||| 22 19709741 . T TC . . ANN=C|upstream_gene_variant|MODIFIER|GP1BB|ENSG00000203618|transcript|ENST00000366425|protein_coding||c.-626_-626insC|||||726|,C|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000431124|protein_coding||c.*920_*920insC|||||499|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000490204|processed_transcript||n.*774_*774insC|||||3164|,C|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000395109|protein_coding||c.*794_*794insC|||||1386|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000477238|retained_intron||n.*577_*577insC|||||2006|,C|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000413258|protein_coding||c.*318_*318insC|||||1345|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000480423|retained_intron||n.*563_*563insC|||||350|,C|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000383045|protein_coding|9/10|c.978-12dupC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000455784|protein_coding|10/11|c.951-12dupC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000406395|protein_coding|10/11|c.940-12dupC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000406172|nonsense_mediated_decay|9/9|n.*107-12dupC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000412544|protein_coding|9/9|c.810-12dupC||||||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000455843|nonsense_mediated_decay|9/11|n.978-12dupC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000438754|protein_coding|9/10|c.967-12dupC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000431044|nonsense_mediated_decay|9/11|n.810-12dupC||||||INFO_REALIGN_3_PRIME,C|non_coding_exon_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000470814|retained_intron|4/6|n.716dupC||||||INFO_REALIGN_3_PRIME 22 19709748 . C T . . ANN=T|upstream_gene_variant|MODIFIER|GP1BB|ENSG00000203618|transcript|ENST00000366425|protein_coding||c.-626C>T|||||720|,T|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000431124|protein_coding||c.*920C>T|||||505|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000490204|processed_transcript||n.*774C>T|||||3170|,T|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000395109|protein_coding||c.*794C>T|||||1392|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000477238|retained_intron||n.*577C>T|||||2012|,T|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000413258|protein_coding||c.*318C>T|||||1351|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000480423|retained_intron||n.*563C>T|||||356|,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000383045|protein_coding|9/10|c.978-12C>T||||||,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000455784|protein_coding|10/11|c.951-12C>T||||||,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000406395|protein_coding|10/11|c.940-12C>T||||||,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000406172|nonsense_mediated_decay|9/9|n.*107-12C>T||||||,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000412544|protein_coding|9/9|c.810-12C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000455843|nonsense_mediated_decay|9/11|n.978-12C>T||||||,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000438754|protein_coding|9/10|c.967-12C>T||||||,T|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000431044|nonsense_mediated_decay|9/11|n.810-12C>T||||||,T|non_coding_exon_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000470814|retained_intron|4/6|n.716C>T|||||| 22 19709868 . TGGGGCGGCG T . . ANN=|TF_binding_site_variant|LOW|||Egr1|MA0162.1|||n.null_nulldelGGGGCGGCG||||||,|sequence_feature|LOW|SEPT5|ENSG00000184702|coiled-coil_region|ENST00000455784|protein_coding|12/12|c.1053+7_1053+15delGGGGCGGCG||||||,|sequence_feature|LOW|SEPT5|ENSG00000184702|coiled-coil_region|ENST00000455784|protein_coding|11/12|c.1053+7_1053+15delGGGGCGGCG||||||,|3_prime_UTR_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000406172|nonsense_mediated_decay|10/10|n.*226_*234delGGGCGGCGG|||||505|INFO_REALIGN_3_PRIME,|upstream_gene_variant|MODIFIER|GP1BB|ENSG00000203618|transcript|ENST00000366425|protein_coding||c.-626_-626delGGGGCGGCG|||||599|,|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000412544|protein_coding||c.*1108_*1108delGGGGCGGCG|||||15|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000431124|protein_coding||c.*920_*920delGGGGCGGCG|||||626|WARNING_TRANSCRIPT_NO_STOP_CODON,|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000490204|processed_transcript||n.*774_*774delGGGGCGGCG|||||3291|,|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000395109|protein_coding||c.*794_*794delGGGGCGGCG|||||1513|WARNING_TRANSCRIPT_NO_STOP_CODON,|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000477238|retained_intron||n.*577_*577delGGGGCGGCG|||||2133|,|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000413258|protein_coding||c.*318_*318delGGGGCGGCG|||||1472|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000480423|retained_intron||n.*563_*563delGGGGCGGCG|||||477|,|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000383045|protein_coding|10/10|c.1080+17_1080+25delGGGCGGCGG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000455784|protein_coding|11/11|c.1053+17_1053+25delGGGCGGCGG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000406395|protein_coding|11/11|c.*28+17_*28+25delGGGCGGCGG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000455843|nonsense_mediated_decay|10/11|n.1080+17_1080+25delGGGCGGCGG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000438754|protein_coding|10/10|c.*28+17_*28+25delGGGCGGCGG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000431044|nonsense_mediated_decay|10/11|n.912+17_912+25delGGGCGGCGG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000470814|retained_intron|4/5|n.830+17_830+25delGGGCGGCGG||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000406172|nonsense_mediated_decay|10/10|n.*226_*234delGGGCGGCGG||||||INFO_REALIGN_3_PRIME 22 19709909 . CT C . . ANN=|sequence_feature|LOW|SEPT5|ENSG00000184702|coiled-coil_region|ENST00000455784|protein_coding|12/12|c.1054-41delT||||||,|sequence_feature|LOW|SEPT5|ENSG00000184702|coiled-coil_region|ENST00000455784|protein_coding|11/12|c.1054-41delT||||||,|3_prime_UTR_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000406172|nonsense_mediated_decay|10/10|n.*257delT|||||536|,|upstream_gene_variant|MODIFIER|GP1BB|ENSG00000203618|transcript|ENST00000366425|protein_coding||c.-626delT|||||558|,|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000412544|protein_coding||c.*1108delT|||||56|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000431124|protein_coding||c.*920delT|||||667|WARNING_TRANSCRIPT_NO_STOP_CODON,|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000490204|processed_transcript||n.*774delT|||||3332|,|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000395109|protein_coding||c.*794delT|||||1554|WARNING_TRANSCRIPT_NO_STOP_CODON,|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000477238|retained_intron||n.*577delT|||||2174|,|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000413258|protein_coding||c.*318delT|||||1513|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000480423|retained_intron||n.*563delT|||||518|,|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000383045|protein_coding|10/10|c.1081-41delT||||||,|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000455784|protein_coding|11/11|c.1054-41delT||||||,|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000406395|protein_coding|11/11|c.*29-41delT||||||,|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000455843|nonsense_mediated_decay|10/11|n.1081-41delT||||||,|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000438754|protein_coding|10/10|c.*29-41delT||||||,|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000431044|nonsense_mediated_decay|10/11|n.913-41delT||||||,|intron_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000470814|retained_intron|4/5|n.831-41delT||||||,|non_coding_exon_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000406172|nonsense_mediated_decay|10/10|n.*257delT|||||| 22 19711493 . G T . . ANN=T|missense_variant|MODERATE|GP1BB|ENSG00000203618|transcript|ENST00000366425|protein_coding|2/2|c.127G>T|p.Gly43Trp|752/1553|127/621|43/206||,T|sequence_feature|LOW|GP1BB|ENSG00000203618|domain:LRRNT|ENST00000366425|protein_coding|2/2|c.127G>T||||||,T|sequence_feature|LOW|GP1BB|ENSG00000203618|topological_domain:Extracellular|ENST00000366425|protein_coding|2/2|c.127G>T||||||,T|3_prime_UTR_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000455843|nonsense_mediated_decay|12/12|n.*1212G>T|||||1486|,T|3_prime_UTR_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000431044|nonsense_mediated_decay|12/12|n.*1212G>T|||||1486|,T|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000383045|protein_coding||c.*1443G>T|||||1341|,T|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000455784|protein_coding||c.*1235G>T|||||651|,T|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000406395|protein_coding||c.*1099G>T|||||696|,T|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000406172|nonsense_mediated_decay||n.*807G>T|||||651|,T|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000412544|protein_coding||c.*1108G>T|||||1639|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000431124|protein_coding||c.*920G>T|||||2250|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000490204|processed_transcript||n.*774G>T|||||4915|,T|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000438754|protein_coding||c.*1321G>T|||||651|,T|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000395109|protein_coding||c.*794G>T|||||3137|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000477238|retained_intron||n.*577G>T|||||3757|,T|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000413258|protein_coding||c.*318G>T|||||3096|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000480423|retained_intron||n.*563G>T|||||2101|,T|non_coding_exon_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000455843|nonsense_mediated_decay|12/12|n.*1212G>T||||||,T|non_coding_exon_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000431044|nonsense_mediated_decay|12/12|n.*1212G>T||||||,T|non_coding_exon_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000470814|retained_intron|6/6|n.2099G>T|||||| 22 19747128 . C T . . ANN=T|5_prime_UTR_premature_start_codon_gain_variant|LOW|TBX1|ENSG00000184058|transcript|ENST00000332710|protein_coding|2/9|c.-39C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|TBX1|ENSG00000184058|transcript|ENST00000329705|protein_coding|2/9|c.-39C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|TBX1|ENSG00000184058|transcript|ENST00000359500|protein_coding|2/10|c.-39C>T||||||,T|5_prime_UTR_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000332710|protein_coding|2/9|c.-39C>T|||||39|,T|5_prime_UTR_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000329705|protein_coding|2/9|c.-39C>T|||||39|,T|5_prime_UTR_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000359500|protein_coding|2/10|c.-39C>T|||||39|,T|upstream_gene_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000475303|retained_intron||n.-1C>T|||||1592| 22 19747164 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000332710|protein_coding|2/9|c.-3G>A|||||3|,A|5_prime_UTR_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000329705|protein_coding|2/9|c.-3G>A|||||3|,A|5_prime_UTR_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000359500|protein_coding|2/10|c.-3G>A|||||3|,A|upstream_gene_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000475303|retained_intron||n.-1G>A|||||1556| 22 19748690 . G A . . ANN=A|synonymous_variant|LOW|TBX1|ENSG00000184058|transcript|ENST00000332710|protein_coding|3/9|c.297G>A|p.Ala99Ala|426/2082|297/1488|99/495||,A|synonymous_variant|LOW|TBX1|ENSG00000184058|transcript|ENST00000329705|protein_coding|3/9|c.297G>A|p.Ala99Ala|426/1465|297/1197|99/398||,A|synonymous_variant|LOW|TBX1|ENSG00000184058|transcript|ENST00000359500|protein_coding|3/10|c.297G>A|p.Ala99Ala|426/1538|297/1119|99/372||,A|sequence_feature|LOW|TBX1|ENSG00000184058|compositionally_biased_region:Poly-Ala|ENST00000332710|protein_coding|3/9|c.297G>A||||||,A|sequence_feature|LOW|TBX1|ENSG00000184058|compositionally_biased_region:Poly-Ala|ENST00000329705|protein_coding|3/9|c.297G>A||||||,A|sequence_feature|LOW|TBX1|ENSG00000184058|compositionally_biased_region:Poly-Ala|ENST00000359500|protein_coding|3/10|c.297G>A||||||,A|upstream_gene_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000475303|retained_intron||n.-1G>A|||||30|,A|upstream_gene_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000484336|retained_intron||n.-1G>A|||||3912| 22 19748695 . TGAA T . . ANN=|disruptive_inframe_deletion|MODERATE|TBX1|ENSG00000184058|transcript|ENST00000332710|protein_coding|3/9|c.309_311delGAA|p.Lys103del|438/2082|309/1488|103/495||INFO_REALIGN_3_PRIME,|disruptive_inframe_deletion|MODERATE|TBX1|ENSG00000184058|transcript|ENST00000329705|protein_coding|3/9|c.309_311delGAA|p.Lys103del|438/1465|309/1197|103/398||INFO_REALIGN_3_PRIME,|disruptive_inframe_deletion|MODERATE|TBX1|ENSG00000184058|transcript|ENST00000359500|protein_coding|3/10|c.309_311delGAA|p.Lys103del|438/1538|309/1119|103/372||INFO_REALIGN_3_PRIME,|upstream_gene_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000475303|retained_intron||n.-1_-1delGAA|||||24|,|upstream_gene_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000484336|retained_intron||n.-1_-1delGAA|||||3906| 22 19748714 . G A . . ANN=A|synonymous_variant|LOW|TBX1|ENSG00000184058|transcript|ENST00000332710|protein_coding|3/9|c.321G>A|p.Val107Val|450/2082|321/1488|107/495||,A|synonymous_variant|LOW|TBX1|ENSG00000184058|transcript|ENST00000329705|protein_coding|3/9|c.321G>A|p.Val107Val|450/1465|321/1197|107/398||,A|synonymous_variant|LOW|TBX1|ENSG00000184058|transcript|ENST00000359500|protein_coding|3/10|c.321G>A|p.Val107Val|450/1538|321/1119|107/372||,A|upstream_gene_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000475303|retained_intron||n.-1G>A|||||6|,A|upstream_gene_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000484336|retained_intron||n.-1G>A|||||3888| 22 19750773 . T C . . ANN=C|synonymous_variant|LOW|TBX1|ENSG00000184058|transcript|ENST00000332710|protein_coding|4/9|c.420T>C|p.Phe140Phe|549/2082|420/1488|140/495||,C|synonymous_variant|LOW|TBX1|ENSG00000184058|transcript|ENST00000329705|protein_coding|4/9|c.420T>C|p.Phe140Phe|549/1465|420/1197|140/398||,C|synonymous_variant|LOW|TBX1|ENSG00000184058|transcript|ENST00000359500|protein_coding|4/10|c.420T>C|p.Phe140Phe|549/1538|420/1119|140/372||,C|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|7/9|c.420T>C||||||,C|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|5/9|c.420T>C||||||,C|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|4/9|c.420T>C||||||,C|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|3/9|c.420T>C||||||,C|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|6/9|c.420T>C||||||,C|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|7/9|c.420T>C||||||,C|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|5/9|c.420T>C||||||,C|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|4/9|c.420T>C||||||,C|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|3/9|c.420T>C||||||,C|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|6/9|c.420T>C||||||,C|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|7/10|c.420T>C||||||,C|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|5/10|c.420T>C||||||,C|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|4/10|c.420T>C||||||,C|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|3/10|c.420T>C||||||,C|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|6/10|c.420T>C||||||,C|upstream_gene_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000484336|retained_intron||n.-1T>C|||||1829|,C|non_coding_exon_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000475303|retained_intron|2/2|n.94T>C|||||| 22 19750797 . C T . . ANN=T|synonymous_variant|LOW|TBX1|ENSG00000184058|transcript|ENST00000332710|protein_coding|4/9|c.444C>T|p.Phe148Phe|573/2082|444/1488|148/495||,T|synonymous_variant|LOW|TBX1|ENSG00000184058|transcript|ENST00000329705|protein_coding|4/9|c.444C>T|p.Phe148Phe|573/1465|444/1197|148/398||,T|synonymous_variant|LOW|TBX1|ENSG00000184058|transcript|ENST00000359500|protein_coding|4/10|c.444C>T|p.Phe148Phe|573/1538|444/1119|148/372||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|7/9|c.444C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|5/9|c.444C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|4/9|c.444C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|3/9|c.444C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|6/9|c.444C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|beta_strand|ENST00000332710|protein_coding|4/9|c.444C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|7/9|c.444C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|5/9|c.444C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|4/9|c.444C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|3/9|c.444C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|6/9|c.444C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|beta_strand|ENST00000329705|protein_coding|4/9|c.444C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|7/10|c.444C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|5/10|c.444C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|4/10|c.444C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|3/10|c.444C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|6/10|c.444C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|beta_strand|ENST00000359500|protein_coding|4/10|c.444C>T||||||,T|upstream_gene_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000484336|retained_intron||n.-1C>T|||||1805|,T|non_coding_exon_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000475303|retained_intron|2/2|n.118C>T|||||| 22 19750845 . G A . . ANN=A|synonymous_variant|LOW|TBX1|ENSG00000184058|transcript|ENST00000332710|protein_coding|4/9|c.492G>A|p.Pro164Pro|621/2082|492/1488|164/495||,A|synonymous_variant|LOW|TBX1|ENSG00000184058|transcript|ENST00000329705|protein_coding|4/9|c.492G>A|p.Pro164Pro|621/1465|492/1197|164/398||,A|synonymous_variant|LOW|TBX1|ENSG00000184058|transcript|ENST00000359500|protein_coding|4/10|c.492G>A|p.Pro164Pro|621/1538|492/1119|164/372||,A|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|7/9|c.492G>A||||||,A|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|5/9|c.492G>A||||||,A|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|4/9|c.492G>A||||||,A|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|3/9|c.492G>A||||||,A|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|6/9|c.492G>A||||||,A|sequence_feature|LOW|TBX1|ENSG00000184058|beta_strand|ENST00000332710|protein_coding|4/9|c.492G>A||||||,A|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|7/9|c.492G>A||||||,A|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|5/9|c.492G>A||||||,A|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|4/9|c.492G>A||||||,A|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|3/9|c.492G>A||||||,A|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|6/9|c.492G>A||||||,A|sequence_feature|LOW|TBX1|ENSG00000184058|beta_strand|ENST00000329705|protein_coding|4/9|c.492G>A||||||,A|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|7/10|c.492G>A||||||,A|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|5/10|c.492G>A||||||,A|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|4/10|c.492G>A||||||,A|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|3/10|c.492G>A||||||,A|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|6/10|c.492G>A||||||,A|sequence_feature|LOW|TBX1|ENSG00000184058|beta_strand|ENST00000359500|protein_coding|4/10|c.492G>A||||||,A|upstream_gene_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000484336|retained_intron||n.-1G>A|||||1757|,A|non_coding_exon_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000475303|retained_intron|2/2|n.166G>A|||||| 22 19750906 . C A . . ANN=A|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|7/9|c.512+41C>A||||||,A|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|5/9|c.512+41C>A||||||,A|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|4/9|c.512+41C>A||||||,A|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|3/9|c.512+41C>A||||||,A|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|6/9|c.512+41C>A||||||,A|sequence_feature|LOW|TBX1|ENSG00000184058|beta_strand|ENST00000332710|protein_coding|5/9|c.512+41C>A||||||,A|sequence_feature|LOW|TBX1|ENSG00000184058|beta_strand|ENST00000332710|protein_coding|4/9|c.512+41C>A||||||,A|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|7/9|c.512+41C>A||||||,A|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|5/9|c.512+41C>A||||||,A|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|4/9|c.512+41C>A||||||,A|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|3/9|c.512+41C>A||||||,A|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|6/9|c.512+41C>A||||||,A|sequence_feature|LOW|TBX1|ENSG00000184058|beta_strand|ENST00000329705|protein_coding|5/9|c.512+41C>A||||||,A|sequence_feature|LOW|TBX1|ENSG00000184058|beta_strand|ENST00000329705|protein_coding|4/9|c.512+41C>A||||||,A|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|7/10|c.512+41C>A||||||,A|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|5/10|c.512+41C>A||||||,A|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|4/10|c.512+41C>A||||||,A|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|3/10|c.512+41C>A||||||,A|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|6/10|c.512+41C>A||||||,A|sequence_feature|LOW|TBX1|ENSG00000184058|beta_strand|ENST00000359500|protein_coding|5/10|c.512+41C>A||||||,A|sequence_feature|LOW|TBX1|ENSG00000184058|beta_strand|ENST00000359500|protein_coding|4/10|c.512+41C>A||||||,A|upstream_gene_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000484336|retained_intron||n.-1C>A|||||1696|,A|intron_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000332710|protein_coding|4/8|c.512+41C>A||||||,A|intron_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000329705|protein_coding|4/8|c.512+41C>A||||||,A|intron_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000359500|protein_coding|4/9|c.512+41C>A||||||,A|non_coding_exon_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000475303|retained_intron|2/2|n.227C>A|||||| 22 19751654 . C T . . ANN=T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|7/9|c.513-24C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|5/9|c.513-24C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|4/9|c.513-24C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|3/9|c.513-24C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|6/9|c.513-24C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|beta_strand|ENST00000332710|protein_coding|5/9|c.513-24C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|beta_strand|ENST00000332710|protein_coding|4/9|c.513-24C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|7/9|c.513-24C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|5/9|c.513-24C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|4/9|c.513-24C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|3/9|c.513-24C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|6/9|c.513-24C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|beta_strand|ENST00000329705|protein_coding|5/9|c.513-24C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|beta_strand|ENST00000329705|protein_coding|4/9|c.513-24C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|7/10|c.513-24C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|5/10|c.513-24C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|4/10|c.513-24C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|3/10|c.513-24C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|6/10|c.513-24C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|beta_strand|ENST00000359500|protein_coding|5/10|c.513-24C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|beta_strand|ENST00000359500|protein_coding|4/10|c.513-24C>T||||||,T|upstream_gene_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000484336|retained_intron||n.-1C>T|||||948|,T|downstream_gene_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000475303|retained_intron||n.*546C>T|||||429|,T|intron_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000332710|protein_coding|4/8|c.513-24C>T||||||,T|intron_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000329705|protein_coding|4/8|c.513-24C>T||||||,T|intron_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000359500|protein_coding|4/9|c.513-24C>T|||||| 22 19751665 . C T . . ANN=T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|7/9|c.513-13C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|5/9|c.513-13C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|4/9|c.513-13C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|3/9|c.513-13C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|6/9|c.513-13C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|beta_strand|ENST00000332710|protein_coding|5/9|c.513-13C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|beta_strand|ENST00000332710|protein_coding|4/9|c.513-13C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|7/9|c.513-13C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|5/9|c.513-13C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|4/9|c.513-13C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|3/9|c.513-13C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|6/9|c.513-13C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|beta_strand|ENST00000329705|protein_coding|5/9|c.513-13C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|beta_strand|ENST00000329705|protein_coding|4/9|c.513-13C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|7/10|c.513-13C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|5/10|c.513-13C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|4/10|c.513-13C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|3/10|c.513-13C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|6/10|c.513-13C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|beta_strand|ENST00000359500|protein_coding|5/10|c.513-13C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|beta_strand|ENST00000359500|protein_coding|4/10|c.513-13C>T||||||,T|upstream_gene_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000484336|retained_intron||n.-1C>T|||||937|,T|downstream_gene_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000475303|retained_intron||n.*546C>T|||||440|,T|intron_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000332710|protein_coding|4/8|c.513-13C>T||||||,T|intron_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000329705|protein_coding|4/8|c.513-13C>T||||||,T|intron_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000359500|protein_coding|4/9|c.513-13C>T|||||| 22 19751670 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|TBX1|ENSG00000184058|transcript|ENST00000332710|protein_coding|4/8|c.513-8C>T||||||,T|splice_region_variant&intron_variant|LOW|TBX1|ENSG00000184058|transcript|ENST00000329705|protein_coding|4/8|c.513-8C>T||||||,T|splice_region_variant&intron_variant|LOW|TBX1|ENSG00000184058|transcript|ENST00000359500|protein_coding|4/9|c.513-8C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|7/9|c.513-8C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|5/9|c.513-8C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|4/9|c.513-8C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|3/9|c.513-8C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|6/9|c.513-8C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|beta_strand|ENST00000332710|protein_coding|5/9|c.513-8C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|beta_strand|ENST00000332710|protein_coding|4/9|c.513-8C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|7/9|c.513-8C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|5/9|c.513-8C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|4/9|c.513-8C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|3/9|c.513-8C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|6/9|c.513-8C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|beta_strand|ENST00000329705|protein_coding|5/9|c.513-8C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|beta_strand|ENST00000329705|protein_coding|4/9|c.513-8C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|7/10|c.513-8C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|5/10|c.513-8C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|4/10|c.513-8C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|3/10|c.513-8C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|6/10|c.513-8C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|beta_strand|ENST00000359500|protein_coding|5/10|c.513-8C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|beta_strand|ENST00000359500|protein_coding|4/10|c.513-8C>T||||||,T|upstream_gene_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000484336|retained_intron||n.-1C>T|||||932|,T|downstream_gene_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000475303|retained_intron||n.*546C>T|||||445| 22 19751696 . C T . . ANN=T|synonymous_variant|LOW|TBX1|ENSG00000184058|transcript|ENST00000332710|protein_coding|5/9|c.531C>T|p.Ser177Ser|660/2082|531/1488|177/495||,T|synonymous_variant|LOW|TBX1|ENSG00000184058|transcript|ENST00000329705|protein_coding|5/9|c.531C>T|p.Ser177Ser|660/1465|531/1197|177/398||,T|synonymous_variant|LOW|TBX1|ENSG00000184058|transcript|ENST00000359500|protein_coding|5/10|c.531C>T|p.Ser177Ser|660/1538|531/1119|177/372||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|7/9|c.531C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|5/9|c.531C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|4/9|c.531C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|3/9|c.531C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|6/9|c.531C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|turn|ENST00000332710|protein_coding|5/9|c.531C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|7/9|c.531C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|5/9|c.531C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|4/9|c.531C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|3/9|c.531C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|6/9|c.531C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|turn|ENST00000329705|protein_coding|5/9|c.531C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|7/10|c.531C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|5/10|c.531C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|4/10|c.531C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|3/10|c.531C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|6/10|c.531C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|turn|ENST00000359500|protein_coding|5/10|c.531C>T||||||,T|upstream_gene_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000484336|retained_intron||n.-1C>T|||||906|,T|downstream_gene_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000475303|retained_intron||n.*546C>T|||||471| 22 19751829 . C T . . ANN=T|synonymous_variant|LOW|TBX1|ENSG00000184058|transcript|ENST00000332710|protein_coding|5/9|c.664C>T|p.Leu222Leu|793/2082|664/1488|222/495||,T|synonymous_variant|LOW|TBX1|ENSG00000184058|transcript|ENST00000329705|protein_coding|5/9|c.664C>T|p.Leu222Leu|793/1465|664/1197|222/398||,T|synonymous_variant|LOW|TBX1|ENSG00000184058|transcript|ENST00000359500|protein_coding|5/10|c.664C>T|p.Leu222Leu|793/1538|664/1119|222/372||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|7/9|c.664C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|5/9|c.664C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|4/9|c.664C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|3/9|c.664C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|6/9|c.664C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|7/9|c.664C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|5/9|c.664C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|4/9|c.664C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|3/9|c.664C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|6/9|c.664C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|7/10|c.664C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|5/10|c.664C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|4/10|c.664C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|3/10|c.664C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|6/10|c.664C>T||||||,T|upstream_gene_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000484336|retained_intron||n.-1C>T|||||773|,T|downstream_gene_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000475303|retained_intron||n.*546C>T|||||604| 22 19751892 . C T . . ANN=T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|7/9|c.684+43C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|5/9|c.684+43C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|4/9|c.684+43C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|3/9|c.684+43C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|6/9|c.684+43C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|7/9|c.684+43C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|5/9|c.684+43C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|4/9|c.684+43C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|3/9|c.684+43C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|6/9|c.684+43C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|7/10|c.684+43C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|5/10|c.684+43C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|4/10|c.684+43C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|3/10|c.684+43C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|6/10|c.684+43C>T||||||,T|upstream_gene_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000484336|retained_intron||n.-1C>T|||||710|,T|downstream_gene_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000475303|retained_intron||n.*546C>T|||||667|,T|intron_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000332710|protein_coding|5/8|c.684+43C>T||||||,T|intron_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000329705|protein_coding|5/8|c.684+43C>T||||||,T|intron_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000359500|protein_coding|5/9|c.684+43C>T|||||| 22 19752522 . C T . . ANN=T|synonymous_variant|LOW|TBX1|ENSG00000184058|transcript|ENST00000332710|protein_coding|6/9|c.726C>T|p.His242His|855/2082|726/1488|242/495||,T|synonymous_variant|LOW|TBX1|ENSG00000184058|transcript|ENST00000329705|protein_coding|6/9|c.726C>T|p.His242His|855/1465|726/1197|242/398||,T|synonymous_variant|LOW|TBX1|ENSG00000184058|transcript|ENST00000359500|protein_coding|6/10|c.726C>T|p.His242His|855/1538|726/1119|242/372||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|7/9|c.726C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|5/9|c.726C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|4/9|c.726C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|3/9|c.726C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|6/9|c.726C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|beta_strand|ENST00000332710|protein_coding|6/9|c.726C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|7/9|c.726C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|5/9|c.726C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|4/9|c.726C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|3/9|c.726C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|6/9|c.726C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|beta_strand|ENST00000329705|protein_coding|6/9|c.726C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|7/10|c.726C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|5/10|c.726C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|4/10|c.726C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|3/10|c.726C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|6/10|c.726C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|beta_strand|ENST00000359500|protein_coding|6/10|c.726C>T||||||,T|upstream_gene_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000484336|retained_intron||n.-1C>T|||||80|,T|downstream_gene_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000475303|retained_intron||n.*546C>T|||||1297| 22 19752609 . C T . . ANN=T|synonymous_variant|LOW|TBX1|ENSG00000184058|transcript|ENST00000332710|protein_coding|6/9|c.813C>T|p.Thr271Thr|942/2082|813/1488|271/495||,T|synonymous_variant|LOW|TBX1|ENSG00000184058|transcript|ENST00000329705|protein_coding|6/9|c.813C>T|p.Thr271Thr|942/1465|813/1197|271/398||,T|synonymous_variant|LOW|TBX1|ENSG00000184058|transcript|ENST00000359500|protein_coding|6/10|c.813C>T|p.Thr271Thr|942/1538|813/1119|271/372||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|7/9|c.813C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|5/9|c.813C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|4/9|c.813C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|3/9|c.813C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|6/9|c.813C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|beta_strand|ENST00000332710|protein_coding|6/9|c.813C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|7/9|c.813C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|5/9|c.813C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|4/9|c.813C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|3/9|c.813C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|6/9|c.813C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|beta_strand|ENST00000329705|protein_coding|6/9|c.813C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|7/10|c.813C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|5/10|c.813C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|4/10|c.813C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|3/10|c.813C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|6/10|c.813C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|beta_strand|ENST00000359500|protein_coding|6/10|c.813C>T||||||,T|downstream_gene_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000475303|retained_intron||n.*546C>T|||||1384|,T|non_coding_exon_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000484336|retained_intron|1/3|n.8C>T|||||| 22 19752610 . G T . . ANN=T|missense_variant|MODERATE|TBX1|ENSG00000184058|transcript|ENST00000332710|protein_coding|6/9|c.814G>T|p.Ala272Ser|943/2082|814/1488|272/495||,T|missense_variant|MODERATE|TBX1|ENSG00000184058|transcript|ENST00000329705|protein_coding|6/9|c.814G>T|p.Ala272Ser|943/1465|814/1197|272/398||,T|missense_variant|MODERATE|TBX1|ENSG00000184058|transcript|ENST00000359500|protein_coding|6/10|c.814G>T|p.Ala272Ser|943/1538|814/1119|272/372||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|7/9|c.814G>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|5/9|c.814G>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|4/9|c.814G>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|3/9|c.814G>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|6/9|c.814G>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|beta_strand|ENST00000332710|protein_coding|6/9|c.814G>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|7/9|c.814G>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|5/9|c.814G>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|4/9|c.814G>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|3/9|c.814G>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|6/9|c.814G>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|beta_strand|ENST00000329705|protein_coding|6/9|c.814G>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|7/10|c.814G>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|5/10|c.814G>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|4/10|c.814G>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|3/10|c.814G>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|6/10|c.814G>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|beta_strand|ENST00000359500|protein_coding|6/10|c.814G>T||||||,T|downstream_gene_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000475303|retained_intron||n.*546G>T|||||1385|,T|non_coding_exon_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000484336|retained_intron|1/3|n.9G>T|||||| 22 19753233 . C T . . ANN=T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|7/9|c.841-48C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|5/9|c.841-48C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|4/9|c.841-48C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|3/9|c.841-48C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|6/9|c.841-48C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|helix|ENST00000332710|protein_coding|7/9|c.841-48C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|helix|ENST00000332710|protein_coding|6/9|c.841-48C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|7/9|c.841-48C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|5/9|c.841-48C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|4/9|c.841-48C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|3/9|c.841-48C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|6/9|c.841-48C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|helix|ENST00000329705|protein_coding|7/9|c.841-48C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|helix|ENST00000329705|protein_coding|6/9|c.841-48C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|7/10|c.841-48C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|5/10|c.841-48C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|4/10|c.841-48C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|3/10|c.841-48C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|6/10|c.841-48C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|helix|ENST00000359500|protein_coding|7/10|c.841-48C>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|helix|ENST00000359500|protein_coding|6/10|c.841-48C>T||||||,T|downstream_gene_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000475303|retained_intron||n.*546C>T|||||2008|,T|intron_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000332710|protein_coding|6/8|c.841-48C>T||||||,T|intron_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000329705|protein_coding|6/8|c.841-48C>T||||||,T|intron_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000359500|protein_coding|6/9|c.841-48C>T||||||,T|intron_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000484336|retained_intron|1/2|n.36-48C>T|||||| 22 19753374 . A C . . ANN=C|downstream_gene_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000475303|retained_intron||n.*546A>C|||||2149|,C|intron_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000332710|protein_coding|7/8|c.908+26A>C||||||,C|intron_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000329705|protein_coding|7/8|c.908+26A>C||||||,C|intron_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000359500|protein_coding|7/9|c.908+26A>C||||||,C|intron_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000484336|retained_intron|2/2|n.103+26A>C|||||| 22 19753379 . C T . . ANN=T|downstream_gene_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000475303|retained_intron||n.*546C>T|||||2154|,T|intron_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000332710|protein_coding|7/8|c.908+31C>T||||||,T|intron_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000329705|protein_coding|7/8|c.908+31C>T||||||,T|intron_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000359500|protein_coding|7/9|c.908+31C>T||||||,T|intron_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000484336|retained_intron|2/2|n.103+31C>T|||||| 22 19753401 . C A . . ANN=A|downstream_gene_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000475303|retained_intron||n.*546C>A|||||2176|,A|intron_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000332710|protein_coding|7/8|c.909-24C>A||||||,A|intron_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000329705|protein_coding|7/8|c.909-24C>A||||||,A|intron_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000359500|protein_coding|7/9|c.909-24C>A||||||,A|intron_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000484336|retained_intron|2/2|n.104-24C>A|||||| 22 19753443 . C T . . ANN=T|synonymous_variant|LOW|TBX1|ENSG00000184058|transcript|ENST00000332710|protein_coding|8/9|c.927C>T|p.Pro309Pro|1056/2082|927/1488|309/495||,T|synonymous_variant|LOW|TBX1|ENSG00000184058|transcript|ENST00000329705|protein_coding|8/9|c.927C>T|p.Pro309Pro|1056/1465|927/1197|309/398||,T|synonymous_variant|LOW|TBX1|ENSG00000184058|transcript|ENST00000359500|protein_coding|8/10|c.927C>T|p.Pro309Pro|1056/1538|927/1119|309/372||,T|downstream_gene_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000475303|retained_intron||n.*546C>T|||||2218|,T|non_coding_exon_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000484336|retained_intron|3/3|n.122C>T|||||| 22 19753444 . G A . . ANN=A|missense_variant|MODERATE|TBX1|ENSG00000184058|transcript|ENST00000332710|protein_coding|8/9|c.928G>A|p.Gly310Ser|1057/2082|928/1488|310/495||,A|missense_variant|MODERATE|TBX1|ENSG00000184058|transcript|ENST00000329705|protein_coding|8/9|c.928G>A|p.Gly310Ser|1057/1465|928/1197|310/398||,A|missense_variant|MODERATE|TBX1|ENSG00000184058|transcript|ENST00000359500|protein_coding|8/10|c.928G>A|p.Gly310Ser|1057/1538|928/1119|310/372||,A|downstream_gene_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000475303|retained_intron||n.*546G>A|||||2219|,A|non_coding_exon_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000484336|retained_intron|3/3|n.123G>A|||||| 22 19754091 . A C . . ANN=C|missense_variant|MODERATE|TBX1|ENSG00000184058|transcript|ENST00000332710|protein_coding|9/9|c.1189A>C|p.Asn397His|1318/2082|1189/1488|397/495||,C|downstream_gene_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000475303|retained_intron||n.*546A>C|||||2866|,C|downstream_gene_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000484336|retained_intron||n.*529A>C|||||241|,C|intron_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000329705|protein_coding|8/8|c.1009+566A>C||||||,C|intron_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000359500|protein_coding|8/9|c.1009+566A>C|||||| 22 19754117 . C T . . ANN=T|synonymous_variant|LOW|TBX1|ENSG00000184058|transcript|ENST00000332710|protein_coding|9/9|c.1215C>T|p.Pro405Pro|1344/2082|1215/1488|405/495||,T|downstream_gene_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000475303|retained_intron||n.*546C>T|||||2892|,T|downstream_gene_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000484336|retained_intron||n.*529C>T|||||267|,T|intron_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000329705|protein_coding|8/8|c.1009+592C>T||||||,T|intron_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000359500|protein_coding|8/9|c.1009+592C>T|||||| 22 19754211 . C T . . ANN=T|missense_variant|MODERATE|TBX1|ENSG00000184058|transcript|ENST00000332710|protein_coding|9/9|c.1309C>T|p.Pro437Ser|1438/2082|1309/1488|437/495||,T|downstream_gene_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000475303|retained_intron||n.*546C>T|||||2986|,T|downstream_gene_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000484336|retained_intron||n.*529C>T|||||361|,T|intron_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000329705|protein_coding|8/8|c.1009+686C>T||||||,T|intron_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000359500|protein_coding|8/9|c.1009+686C>T|||||| 22 19766701 . A G . . ANN=G|downstream_gene_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding||c.*1221T>C|||||4046|,G|intron_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000329705|protein_coding|8/8|c.1010-42A>G||||||,G|intron_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000359500|protein_coding|8/9|c.1010-3735A>G|||||| 22 19766730 . G A . . ANN=A|downstream_gene_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding||c.*1221C>T|||||4017|,A|intron_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000329705|protein_coding|8/8|c.1010-13G>A||||||,A|intron_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000359500|protein_coding|8/9|c.1010-3706G>A|||||| 22 19766782 . C T . . ANN=T|missense_variant|MODERATE|TBX1|ENSG00000184058|transcript|ENST00000329705|protein_coding|9/9|c.1049C>T|p.Thr350Met|1178/1465|1049/1197|350/398||,T|downstream_gene_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding||c.*1221G>A|||||3965|,T|intron_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000359500|protein_coding|8/9|c.1010-3654C>T|||||| 22 19766797 . C G . . ANN=G|missense_variant|MODERATE|TBX1|ENSG00000184058|transcript|ENST00000329705|protein_coding|9/9|c.1064C>G|p.Pro355Arg|1193/1465|1064/1197|355/398||,G|downstream_gene_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding||c.*1221G>C|||||3950|,G|intron_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000359500|protein_coding|8/9|c.1010-3639C>G|||||| 22 19766809 . T C . . ANN=C|missense_variant|MODERATE|TBX1|ENSG00000184058|transcript|ENST00000329705|protein_coding|9/9|c.1076T>C|p.Val359Ala|1205/1465|1076/1197|359/398||,C|downstream_gene_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding||c.*1221A>G|||||3938|,C|intron_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000359500|protein_coding|8/9|c.1010-3627T>C|||||| 22 19766828 . A G . . ANN=G|synonymous_variant|LOW|TBX1|ENSG00000184058|transcript|ENST00000329705|protein_coding|9/9|c.1095A>G|p.Ala365Ala|1224/1465|1095/1197|365/398||,G|downstream_gene_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding||c.*1221T>C|||||3919|,G|intron_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000359500|protein_coding|8/9|c.1010-3608A>G|||||| 22 19766954 . C G . . ANN=G|3_prime_UTR_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000329705|protein_coding|9/9|c.*24C>G|||||24|,G|downstream_gene_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding||c.*1221G>C|||||3793|,G|intron_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000359500|protein_coding|8/9|c.1010-3482C>G|||||| 22 19770436 . G A . . ANN=A|missense_variant&splice_region_variant|MODERATE|TBX1|ENSG00000184058|transcript|ENST00000359500|protein_coding|9/10|c.1010G>A|p.Gly337Glu|1139/1538|1010/1119|337/372||,A|downstream_gene_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding||c.*1221C>T|||||311|,A|downstream_gene_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000329705|protein_coding||c.*1326G>A|||||3367| 22 19770566 . C T . . ANN=T|downstream_gene_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding||c.*1221G>A|||||181|,T|downstream_gene_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000329705|protein_coding||c.*1326C>T|||||3497|,T|intron_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000359500|protein_coding|9/9|c.*10+11C>T|||||| 22 19770584 . T C . . ANN=C|downstream_gene_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding||c.*1221A>G|||||163|,C|downstream_gene_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000329705|protein_coding||c.*1326T>C|||||3515|,C|intron_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000359500|protein_coding|9/9|c.*10+29T>C|||||| 22 19776245 . TAG T . . ANN=|frameshift_variant|HIGH|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|8/8|c.969_970delCT|p.Leu323fs|1207/6706|969/984|323/327||,|frameshift_variant|HIGH|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|7/7|c.969_970delCT|p.Leu323fs|1391/1699|969/984|323/327||,|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_6|ENST00000403325|protein_coding|7/7|c.969_970delCT||||||,|upstream_gene_variant|MODIFIER|AC000089.3|ENSG00000235776|transcript|ENST00000424559|processed_pseudogene||n.-1_-1delAG|||||3571|,|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|7/7|c.631-98_631-97delCT||||||,|non_coding_exon_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|6/6|n.937_938delCT|||||| 22 19776348 . C A . . ANN=A|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|8/8|c.868G>T|p.Val290Leu|1105/6706|868/984|290/327||,A|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|7/7|c.868G>T|p.Val290Leu|1289/1699|868/984|290/327||,A|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_5|ENST00000403325|protein_coding|7/7|c.868G>T||||||,A|upstream_gene_variant|MODIFIER|AC000089.3|ENSG00000235776|transcript|ENST00000424559|processed_pseudogene||n.-1C>A|||||3469|,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|7/7|c.631-199G>T||||||,A|non_coding_exon_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|6/6|n.836G>T|||||| 22 19776365 . G A . . ANN=A|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|8/8|c.851C>T|p.Thr284Met|1088/6706|851/984|284/327||,A|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|7/7|c.851C>T|p.Thr284Met|1272/1699|851/984|284/327||,A|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_5|ENST00000403325|protein_coding|7/7|c.851C>T||||||,A|upstream_gene_variant|MODIFIER|AC000089.3|ENSG00000235776|transcript|ENST00000424559|processed_pseudogene||n.-1G>A|||||3452|,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|7/7|c.631-216C>T||||||,A|non_coding_exon_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|6/6|n.819C>T|||||| 22 19776382 . G A . . ANN=A|synonymous_variant|LOW|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|8/8|c.834C>T|p.Arg278Arg|1071/6706|834/984|278/327||,A|synonymous_variant|LOW|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|7/7|c.834C>T|p.Arg278Arg|1255/1699|834/984|278/327||,A|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_5|ENST00000403325|protein_coding|7/7|c.834C>T||||||,A|upstream_gene_variant|MODIFIER|AC000089.3|ENSG00000235776|transcript|ENST00000424559|processed_pseudogene||n.-1G>A|||||3435|,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|7/7|c.631-233C>T||||||,A|non_coding_exon_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|6/6|n.802C>T|||||| 22 19776389 . C T . . ANN=T|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|8/8|c.827G>A|p.Arg276His|1064/6706|827/984|276/327||,T|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|7/7|c.827G>A|p.Arg276His|1248/1699|827/984|276/327||,T|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_5|ENST00000403325|protein_coding|7/7|c.827G>A||||||,T|upstream_gene_variant|MODIFIER|AC000089.3|ENSG00000235776|transcript|ENST00000424559|processed_pseudogene||n.-1C>T|||||3428|,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|7/7|c.631-240G>A||||||,T|non_coding_exon_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|6/6|n.795G>A|||||| 22 19776406 . G A . . ANN=A|synonymous_variant|LOW|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|8/8|c.810C>T|p.Thr270Thr|1047/6706|810/984|270/327||,A|synonymous_variant|LOW|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|7/7|c.810C>T|p.Thr270Thr|1231/1699|810/984|270/327||,A|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_5|ENST00000403325|protein_coding|7/7|c.810C>T||||||,A|upstream_gene_variant|MODIFIER|AC000089.3|ENSG00000235776|transcript|ENST00000424559|processed_pseudogene||n.-1G>A|||||3411|,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|7/7|c.631-257C>T||||||,A|non_coding_exon_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|6/6|n.778C>T|||||| 22 19776444 . C T . . ANN=T|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|8/8|c.772G>A|p.Glu258Lys|1009/6706|772/984|258/327||,T|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|7/7|c.772G>A|p.Glu258Lys|1193/1699|772/984|258/327||,T|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_5|ENST00000403325|protein_coding|7/7|c.772G>A||||||,T|upstream_gene_variant|MODIFIER|AC000089.3|ENSG00000235776|transcript|ENST00000424559|processed_pseudogene||n.-1C>T|||||3373|,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|7/7|c.631-295G>A||||||,T|non_coding_exon_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|6/6|n.740G>A|||||| 22 19776500 . A AG . . ANN=G|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_4|ENST00000403325|protein_coding|7/7|c.733-18dupC||||||,G|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_4|ENST00000403325|protein_coding|6/7|c.733-18dupC||||||,G|upstream_gene_variant|MODIFIER|AC000089.3|ENSG00000235776|transcript|ENST00000424559|processed_pseudogene||n.-1_-1insG|||||3316|,G|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|7/7|c.733-18dupC||||||,G|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|6/6|c.733-18dupC||||||,G|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|7/7|c.631-352dupC||||||,G|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|5/5|n.701-18dupC|||||| 22 19789541 . A C . . ANN=C|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|7/8|c.715T>G|p.Trp239Gly|952/6706|715/984|239/327||,C|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|6/7|c.715T>G|p.Trp239Gly|1136/1699|715/984|239/327||,C|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_4|ENST00000403325|protein_coding|7/7|c.715T>G||||||,C|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_4|ENST00000403325|protein_coding|6/7|c.715T>G||||||,C|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|7/7|c.630+85T>G||||||,C|non_coding_exon_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|5/6|n.683T>G||||||,C|non_coding_exon_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|4/4|n.835T>G|||||| 22 19789627 . G A . . ANN=A|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|7/8|c.629C>T|p.Pro210Leu|866/6706|629/984|210/327||,A|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|6/7|c.629C>T|p.Pro210Leu|1050/1699|629/984|210/327||,A|missense_variant&splice_region_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|7/8|c.629C>T|p.Pro210Leu|866/1076|629/639|210/212||,A|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_4|ENST00000403325|protein_coding|7/7|c.629C>T||||||,A|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_4|ENST00000403325|protein_coding|6/7|c.629C>T||||||,A|non_coding_exon_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|5/6|n.597C>T||||||,A|non_coding_exon_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|4/4|n.749C>T|||||| 22 19789649 . G A . . ANN=A|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|7/8|c.607C>T|p.Arg203Cys|844/6706|607/984|203/327||,A|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|6/7|c.607C>T|p.Arg203Cys|1028/1699|607/984|203/327||,A|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|7/8|c.607C>T|p.Arg203Cys|844/1076|607/639|203/212||,A|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_3|ENST00000403325|protein_coding|6/7|c.607C>T||||||,A|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_3|ENST00000403325|protein_coding|5/7|c.607C>T||||||,A|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_3|ENST00000405009|protein_coding|7/8|c.607C>T||||||,A|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_3|ENST00000405009|protein_coding|6/8|c.607C>T||||||,A|non_coding_exon_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|5/6|n.575C>T||||||,A|non_coding_exon_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|4/4|n.727C>T|||||| 22 19789723 . C T . . ANN=T|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|7/8|c.533G>A|p.Arg178His|770/6706|533/984|178/327||,T|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|6/7|c.533G>A|p.Arg178His|954/1699|533/984|178/327||,T|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|7/8|c.533G>A|p.Arg178His|770/1076|533/639|178/212||,T|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_3|ENST00000403325|protein_coding|6/7|c.533G>A||||||,T|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_3|ENST00000403325|protein_coding|5/7|c.533G>A||||||,T|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_3|ENST00000405009|protein_coding|7/8|c.533G>A||||||,T|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_3|ENST00000405009|protein_coding|6/8|c.533G>A||||||,T|non_coding_exon_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|5/6|n.501G>A||||||,T|non_coding_exon_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|4/4|n.653G>A|||||| 22 19794176 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|6/7|c.516+6G>A||||||,T|splice_region_variant&intron_variant|LOW|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|5/6|c.516+6G>A||||||,T|splice_region_variant&intron_variant|LOW|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|6/7|c.516+6G>A||||||,T|splice_region_variant&intron_variant|LOW|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|4/5|n.484+6G>A||||||,T|splice_region_variant&intron_variant|LOW|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|3/3|n.636+6G>A||||||,T|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_3|ENST00000403325|protein_coding|6/7|c.516+6G>A||||||,T|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_3|ENST00000403325|protein_coding|5/7|c.516+6G>A||||||,T|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_3|ENST00000405009|protein_coding|7/8|c.516+6G>A||||||,T|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_3|ENST00000405009|protein_coding|6/8|c.516+6G>A|||||| 22 19799859 . G C . . ANN=C|synonymous_variant|LOW|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|5/8|c.366C>G|p.Ala122Ala|603/6706|366/984|122/327||,C|synonymous_variant|LOW|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|4/7|c.366C>G|p.Ala122Ala|787/1699|366/984|122/327||,C|synonymous_variant|LOW|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|5/8|c.366C>G|p.Ala122Ala|603/1076|366/639|122/212||,C|synonymous_variant|LOW|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|3/3|c.240C>G|p.Ala80Ala|661/702|240/281|80/92||WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|3/6|n.334C>G||||||,C|non_coding_exon_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|2/4|n.486C>G|||||| 22 19799875 . C T . . ANN=T|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|5/8|c.350G>A|p.Arg117Gln|587/6706|350/984|117/327||,T|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|4/7|c.350G>A|p.Arg117Gln|771/1699|350/984|117/327||,T|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|5/8|c.350G>A|p.Arg117Gln|587/1076|350/639|117/212||,T|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|3/3|c.224G>A|p.Arg75Gln|645/702|224/281|75/92||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|3/6|n.318G>A||||||,T|non_coding_exon_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|2/4|n.470G>A|||||| 22 19799963 . G A . . ANN=A|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|5/8|c.262C>T|p.Arg88Trp|499/6706|262/984|88/327||,A|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|4/7|c.262C>T|p.Arg88Trp|683/1699|262/984|88/327||,A|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|5/8|c.262C>T|p.Arg88Trp|499/1076|262/639|88/212||,A|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|3/3|c.136C>T|p.Arg46Trp|557/702|136/281|46/92||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_2|ENST00000403325|protein_coding|3/7|c.262C>T||||||,A|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_2|ENST00000403325|protein_coding|4/7|c.262C>T||||||,A|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_2|ENST00000405009|protein_coding|4/8|c.262C>T||||||,A|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_2|ENST00000405009|protein_coding|5/8|c.262C>T||||||,A|non_coding_exon_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|3/6|n.230C>T||||||,A|non_coding_exon_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|2/4|n.382C>T|||||| 22 19808167 . A G . . ANN=G|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|4/8|c.208T>C|p.Cys70Arg|445/6706|208/984|70/327||,G|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|3/7|c.208T>C|p.Cys70Arg|629/1699|208/984|70/327||,G|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|4/8|c.208T>C|p.Cys70Arg|445/1076|208/639|70/212||,G|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_2|ENST00000403325|protein_coding|3/7|c.208T>C||||||,G|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_2|ENST00000403325|protein_coding|4/7|c.208T>C||||||,G|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_2|ENST00000405009|protein_coding|4/8|c.208T>C||||||,G|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_2|ENST00000405009|protein_coding|5/8|c.208T>C||||||,G|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.223-8197T>C||||||,G|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.375-8197T>C||||||,G|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|2/2|c.128+584T>C||||||WARNING_TRANSCRIPT_INCOMPLETE 22 19808177 . G A . . ANN=A|synonymous_variant|LOW|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|4/8|c.198C>T|p.His66His|435/6706|198/984|66/327||,A|synonymous_variant|LOW|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|3/7|c.198C>T|p.His66His|619/1699|198/984|66/327||,A|synonymous_variant|LOW|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|4/8|c.198C>T|p.His66His|435/1076|198/639|66/212||,A|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_2|ENST00000403325|protein_coding|3/7|c.198C>T||||||,A|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_2|ENST00000403325|protein_coding|4/7|c.198C>T||||||,A|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_2|ENST00000405009|protein_coding|4/8|c.198C>T||||||,A|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_2|ENST00000405009|protein_coding|5/8|c.198C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.223-8207C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.375-8207C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|2/2|c.128+574C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 19808205 . C T . . ANN=T|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|4/8|c.170G>A|p.Arg57Gln|407/6706|170/984|57/327||,T|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|3/7|c.170G>A|p.Arg57Gln|591/1699|170/984|57/327||,T|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|4/8|c.170G>A|p.Arg57Gln|407/1076|170/639|57/212||,T|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_1|ENST00000403325|protein_coding|3/7|c.170G>A||||||,T|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_1|ENST00000403325|protein_coding|2/7|c.170G>A||||||,T|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_1|ENST00000405009|protein_coding|4/8|c.170G>A||||||,T|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_1|ENST00000405009|protein_coding|3/8|c.170G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.223-8235G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.375-8235G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|2/2|c.128+546G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 19808769 . C T . . ANN=T|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|3/8|c.110G>A|p.Arg37His|347/6706|110/984|37/327||,T|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|2/7|c.110G>A|p.Arg37His|531/1699|110/984|37/327||,T|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|3/8|c.110G>A|p.Arg37His|347/1076|110/639|37/212||,T|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|2/3|c.110G>A|p.Arg37His|531/702|110/281|37/92||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_1|ENST00000403325|protein_coding|3/7|c.110G>A||||||,T|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_1|ENST00000403325|protein_coding|2/7|c.110G>A||||||,T|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_1|ENST00000405009|protein_coding|4/8|c.110G>A||||||,T|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_1|ENST00000405009|protein_coding|3/8|c.110G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.223-8799G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.375-8799G>A|||||| 22 19808791 . C T . . ANN=T|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|3/8|c.88G>A|p.Glu30Lys|325/6706|88/984|30/327||,T|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|2/7|c.88G>A|p.Glu30Lys|509/1699|88/984|30/327||,T|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|3/8|c.88G>A|p.Glu30Lys|325/1076|88/639|30/212||,T|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|2/3|c.88G>A|p.Glu30Lys|509/702|88/281|30/92||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_1|ENST00000403325|protein_coding|3/7|c.88G>A||||||,T|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_1|ENST00000403325|protein_coding|2/7|c.88G>A||||||,T|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_1|ENST00000405009|protein_coding|4/8|c.88G>A||||||,T|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_1|ENST00000405009|protein_coding|3/8|c.88G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.223-8821G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.375-8821G>A|||||| 22 19808792 . G A . . ANN=A|synonymous_variant|LOW|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|3/8|c.87C>T|p.Cys29Cys|324/6706|87/984|29/327||,A|synonymous_variant|LOW|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|2/7|c.87C>T|p.Cys29Cys|508/1699|87/984|29/327||,A|synonymous_variant|LOW|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|3/8|c.87C>T|p.Cys29Cys|324/1076|87/639|29/212||,A|synonymous_variant|LOW|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|2/3|c.87C>T|p.Cys29Cys|508/702|87/281|29/92||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_1|ENST00000403325|protein_coding|3/7|c.87C>T||||||,A|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_1|ENST00000403325|protein_coding|2/7|c.87C>T||||||,A|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_1|ENST00000405009|protein_coding|4/8|c.87C>T||||||,A|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_1|ENST00000405009|protein_coding|3/8|c.87C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.223-8822C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.375-8822C>T|||||| 22 19808805 . G A . . ANN=A|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|3/8|c.74C>T|p.Ala25Val|311/6706|74/984|25/327||,A|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|2/7|c.74C>T|p.Ala25Val|495/1699|74/984|25/327||,A|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|3/8|c.74C>T|p.Ala25Val|311/1076|74/639|25/212||,A|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|2/3|c.74C>T|p.Ala25Val|495/702|74/281|25/92||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_1|ENST00000403325|protein_coding|3/7|c.74C>T||||||,A|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_1|ENST00000403325|protein_coding|2/7|c.74C>T||||||,A|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_1|ENST00000405009|protein_coding|4/8|c.74C>T||||||,A|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_1|ENST00000405009|protein_coding|3/8|c.74C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.223-8835C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.375-8835C>T|||||| 22 19808813 . C T . . ANN=T|synonymous_variant|LOW|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|3/8|c.66G>A|p.Pro22Pro|303/6706|66/984|22/327||,T|synonymous_variant|LOW|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|2/7|c.66G>A|p.Pro22Pro|487/1699|66/984|22/327||,T|synonymous_variant|LOW|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|3/8|c.66G>A|p.Pro22Pro|303/1076|66/639|22/212||,T|synonymous_variant|LOW|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|2/3|c.66G>A|p.Pro22Pro|487/702|66/281|22/92||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_1|ENST00000403325|protein_coding|3/7|c.66G>A||||||,T|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_1|ENST00000403325|protein_coding|2/7|c.66G>A||||||,T|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_1|ENST00000405009|protein_coding|4/8|c.66G>A||||||,T|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_1|ENST00000405009|protein_coding|3/8|c.66G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.223-8843G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.375-8843G>A|||||| 22 19808822 . G A . . ANN=A|synonymous_variant|LOW|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|3/8|c.57C>T|p.Thr19Thr|294/6706|57/984|19/327||,A|synonymous_variant|LOW|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|2/7|c.57C>T|p.Thr19Thr|478/1699|57/984|19/327||,A|synonymous_variant|LOW|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|3/8|c.57C>T|p.Thr19Thr|294/1076|57/639|19/212||,A|synonymous_variant|LOW|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|2/3|c.57C>T|p.Thr19Thr|478/702|57/281|19/92||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_1|ENST00000403325|protein_coding|3/7|c.57C>T||||||,A|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_1|ENST00000403325|protein_coding|2/7|c.57C>T||||||,A|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_1|ENST00000405009|protein_coding|4/8|c.57C>T||||||,A|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_1|ENST00000405009|protein_coding|3/8|c.57C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.223-8852C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.375-8852C>T|||||| 22 19808859 . G C . . ANN=C|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|3/8|c.20C>G|p.Pro7Arg|257/6706|20/984|7/327||,C|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|2/7|c.20C>G|p.Pro7Arg|441/1699|20/984|7/327||,C|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|3/8|c.20C>G|p.Pro7Arg|257/1076|20/639|7/212||,C|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|2/3|c.20C>G|p.Pro7Arg|441/702|20/281|7/92||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|GNB1L|ENSG00000185838|compositionally_biased_region:Poly-Pro|ENST00000403325|protein_coding|2/7|c.20C>G||||||,C|sequence_feature|LOW|GNB1L|ENSG00000185838|compositionally_biased_region:Poly-Pro|ENST00000405009|protein_coding|3/8|c.20C>G||||||,C|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.223-8889C>G||||||,C|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.375-8889C>G|||||| 22 19808874 . G A . . ANN=A|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|3/8|c.5C>T|p.Thr2Met|242/6706|5/984|2/327||,A|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|2/7|c.5C>T|p.Thr2Met|426/1699|5/984|2/327||,A|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|3/8|c.5C>T|p.Thr2Met|242/1076|5/639|2/212||,A|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|2/3|c.5C>T|p.Thr2Met|426/702|5/281|2/92||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.223-8904C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.375-8904C>T|||||| 22 19838729 . C T . . ANN=T|synonymous_variant|LOW|C22orf29|ENSG00000215012|transcript|ENST00000328554|protein_coding|3/3|c.1056G>A|p.Pro352Pro|1559/6619|1056/1095|352/364||,T|synonymous_variant|LOW|C22orf29|ENSG00000215012|transcript|ENST00000407472|protein_coding|3/3|c.1056G>A|p.Pro352Pro|1455/6523|1056/1095|352/364||,T|synonymous_variant|LOW|C22orf29|ENSG00000215012|transcript|ENST00000405640|protein_coding|2/2|c.1056G>A|p.Pro352Pro|1725/6785|1056/1095|352/364||,T|downstream_gene_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000416337|protein_coding||c.*730G>A|||||783|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|2/7|c.-21+3237G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|1/6|c.-21+3237G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|2/7|c.-21+3237G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.222+3237G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.374+3237G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|1/2|c.-21+3237G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000484072|processed_transcript|2/2|n.141+3237G>A|||||| 22 19838873 . C T . . ANN=T|synonymous_variant|LOW|C22orf29|ENSG00000215012|transcript|ENST00000328554|protein_coding|3/3|c.912G>A|p.Ser304Ser|1415/6619|912/1095|304/364||,T|synonymous_variant|LOW|C22orf29|ENSG00000215012|transcript|ENST00000407472|protein_coding|3/3|c.912G>A|p.Ser304Ser|1311/6523|912/1095|304/364||,T|synonymous_variant|LOW|C22orf29|ENSG00000215012|transcript|ENST00000405640|protein_coding|2/2|c.912G>A|p.Ser304Ser|1581/6785|912/1095|304/364||,T|sequence_feature|LOW|C22orf29|ENSG00000215012|compositionally_biased_region:Pro-rich|ENST00000407472|protein_coding|3/3|c.912G>A||||||,T|downstream_gene_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000416337|protein_coding||c.*730G>A|||||639|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|2/7|c.-21+3093G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|1/6|c.-21+3093G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|2/7|c.-21+3093G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.222+3093G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.374+3093G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|1/2|c.-21+3093G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000484072|processed_transcript|2/2|n.141+3093G>A|||||| 22 19838891 . T A . . ANN=A|synonymous_variant|LOW|C22orf29|ENSG00000215012|transcript|ENST00000328554|protein_coding|3/3|c.894A>T|p.Thr298Thr|1397/6619|894/1095|298/364||,A|synonymous_variant|LOW|C22orf29|ENSG00000215012|transcript|ENST00000407472|protein_coding|3/3|c.894A>T|p.Thr298Thr|1293/6523|894/1095|298/364||,A|synonymous_variant|LOW|C22orf29|ENSG00000215012|transcript|ENST00000405640|protein_coding|2/2|c.894A>T|p.Thr298Thr|1563/6785|894/1095|298/364||,A|sequence_feature|LOW|C22orf29|ENSG00000215012|compositionally_biased_region:Pro-rich|ENST00000407472|protein_coding|3/3|c.894A>T||||||,A|downstream_gene_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000416337|protein_coding||c.*730A>T|||||621|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|2/7|c.-21+3075A>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|1/6|c.-21+3075A>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|2/7|c.-21+3075A>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.222+3075A>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.374+3075A>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|1/2|c.-21+3075A>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000484072|processed_transcript|2/2|n.141+3075A>T|||||| 22 19838915 . G T . . ANN=T|synonymous_variant|LOW|C22orf29|ENSG00000215012|transcript|ENST00000328554|protein_coding|3/3|c.870C>A|p.Ser290Ser|1373/6619|870/1095|290/364||,T|synonymous_variant|LOW|C22orf29|ENSG00000215012|transcript|ENST00000407472|protein_coding|3/3|c.870C>A|p.Ser290Ser|1269/6523|870/1095|290/364||,T|synonymous_variant|LOW|C22orf29|ENSG00000215012|transcript|ENST00000405640|protein_coding|2/2|c.870C>A|p.Ser290Ser|1539/6785|870/1095|290/364||,T|sequence_feature|LOW|C22orf29|ENSG00000215012|compositionally_biased_region:Pro-rich|ENST00000407472|protein_coding|3/3|c.870C>A||||||,T|downstream_gene_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000416337|protein_coding||c.*730C>A|||||597|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|2/7|c.-21+3051C>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|1/6|c.-21+3051C>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|2/7|c.-21+3051C>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.222+3051C>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.374+3051C>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|1/2|c.-21+3051C>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000484072|processed_transcript|2/2|n.141+3051C>A|||||| 22 19839019 . C T . . ANN=T|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000328554|protein_coding|3/3|c.766G>A|p.Glu256Lys|1269/6619|766/1095|256/364||,T|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000407472|protein_coding|3/3|c.766G>A|p.Glu256Lys|1165/6523|766/1095|256/364||,T|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000405640|protein_coding|2/2|c.766G>A|p.Glu256Lys|1435/6785|766/1095|256/364||,T|downstream_gene_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000416337|protein_coding||c.*730G>A|||||493|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|2/7|c.-21+2947G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|1/6|c.-21+2947G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|2/7|c.-21+2947G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.222+2947G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.374+2947G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|1/2|c.-21+2947G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000484072|processed_transcript|2/2|n.141+2947G>A|||||| 22 19839113 . T C . . ANN=C|synonymous_variant|LOW|C22orf29|ENSG00000215012|transcript|ENST00000328554|protein_coding|3/3|c.672A>G|p.Ala224Ala|1175/6619|672/1095|224/364||,C|synonymous_variant|LOW|C22orf29|ENSG00000215012|transcript|ENST00000407472|protein_coding|3/3|c.672A>G|p.Ala224Ala|1071/6523|672/1095|224/364||,C|synonymous_variant|LOW|C22orf29|ENSG00000215012|transcript|ENST00000405640|protein_coding|2/2|c.672A>G|p.Ala224Ala|1341/6785|672/1095|224/364||,C|downstream_gene_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000416337|protein_coding||c.*730A>G|||||399|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|2/7|c.-21+2853A>G||||||,C|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|1/6|c.-21+2853A>G||||||,C|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|2/7|c.-21+2853A>G||||||,C|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.222+2853A>G||||||,C|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.374+2853A>G||||||,C|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|1/2|c.-21+2853A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000484072|processed_transcript|2/2|n.141+2853A>G|||||| 22 19839241 . G C . . ANN=C|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000328554|protein_coding|3/3|c.544C>G|p.Pro182Ala|1047/6619|544/1095|182/364||,C|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000407472|protein_coding|3/3|c.544C>G|p.Pro182Ala|943/6523|544/1095|182/364||,C|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000405640|protein_coding|2/2|c.544C>G|p.Pro182Ala|1213/6785|544/1095|182/364||,C|downstream_gene_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000416337|protein_coding||c.*730C>G|||||271|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|2/7|c.-21+2725C>G||||||,C|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|1/6|c.-21+2725C>G||||||,C|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|2/7|c.-21+2725C>G||||||,C|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.222+2725C>G||||||,C|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.374+2725C>G||||||,C|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|1/2|c.-21+2725C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000484072|processed_transcript|2/2|n.141+2725C>G|||||| 22 19839274 . A G . . ANN=G|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000328554|protein_coding|3/3|c.511T>C|p.Phe171Leu|1014/6619|511/1095|171/364||,G|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000407472|protein_coding|3/3|c.511T>C|p.Phe171Leu|910/6523|511/1095|171/364||,G|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000405640|protein_coding|2/2|c.511T>C|p.Phe171Leu|1180/6785|511/1095|171/364||,G|downstream_gene_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000416337|protein_coding||c.*730T>C|||||238|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|2/7|c.-21+2692T>C||||||,G|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|1/6|c.-21+2692T>C||||||,G|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|2/7|c.-21+2692T>C||||||,G|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.222+2692T>C||||||,G|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.374+2692T>C||||||,G|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|1/2|c.-21+2692T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000484072|processed_transcript|2/2|n.141+2692T>C|||||| 22 19839281 . G A . . ANN=A|synonymous_variant|LOW|C22orf29|ENSG00000215012|transcript|ENST00000328554|protein_coding|3/3|c.504C>T|p.Tyr168Tyr|1007/6619|504/1095|168/364||,A|synonymous_variant|LOW|C22orf29|ENSG00000215012|transcript|ENST00000407472|protein_coding|3/3|c.504C>T|p.Tyr168Tyr|903/6523|504/1095|168/364||,A|synonymous_variant|LOW|C22orf29|ENSG00000215012|transcript|ENST00000405640|protein_coding|2/2|c.504C>T|p.Tyr168Tyr|1173/6785|504/1095|168/364||,A|downstream_gene_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000416337|protein_coding||c.*730C>T|||||231|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|2/7|c.-21+2685C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|1/6|c.-21+2685C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|2/7|c.-21+2685C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.222+2685C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.374+2685C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|1/2|c.-21+2685C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000484072|processed_transcript|2/2|n.141+2685C>T|||||| 22 19839286 . C T . . ANN=T|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000328554|protein_coding|3/3|c.499G>A|p.Asp167Asn|1002/6619|499/1095|167/364||,T|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000407472|protein_coding|3/3|c.499G>A|p.Asp167Asn|898/6523|499/1095|167/364||,T|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000405640|protein_coding|2/2|c.499G>A|p.Asp167Asn|1168/6785|499/1095|167/364||,T|downstream_gene_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000416337|protein_coding||c.*730G>A|||||226|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|2/7|c.-21+2680G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|1/6|c.-21+2680G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|2/7|c.-21+2680G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.222+2680G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.374+2680G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|1/2|c.-21+2680G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000484072|processed_transcript|2/2|n.141+2680G>A|||||| 22 19839293 . C G . . ANN=G|synonymous_variant|LOW|C22orf29|ENSG00000215012|transcript|ENST00000328554|protein_coding|3/3|c.492G>C|p.Leu164Leu|995/6619|492/1095|164/364||,G|synonymous_variant|LOW|C22orf29|ENSG00000215012|transcript|ENST00000407472|protein_coding|3/3|c.492G>C|p.Leu164Leu|891/6523|492/1095|164/364||,G|synonymous_variant|LOW|C22orf29|ENSG00000215012|transcript|ENST00000405640|protein_coding|2/2|c.492G>C|p.Leu164Leu|1161/6785|492/1095|164/364||,G|downstream_gene_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000416337|protein_coding||c.*730G>C|||||219|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|2/7|c.-21+2673G>C||||||,G|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|1/6|c.-21+2673G>C||||||,G|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|2/7|c.-21+2673G>C||||||,G|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.222+2673G>C||||||,G|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.374+2673G>C||||||,G|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|1/2|c.-21+2673G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000484072|processed_transcript|2/2|n.141+2673G>C|||||| 22 19839351 . C T . . ANN=T|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000328554|protein_coding|3/3|c.434G>A|p.Arg145His|937/6619|434/1095|145/364||,T|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000407472|protein_coding|3/3|c.434G>A|p.Arg145His|833/6523|434/1095|145/364||,T|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000405640|protein_coding|2/2|c.434G>A|p.Arg145His|1103/6785|434/1095|145/364||,T|downstream_gene_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000416337|protein_coding||c.*730G>A|||||161|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|2/7|c.-21+2615G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|1/6|c.-21+2615G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|2/7|c.-21+2615G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.222+2615G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.374+2615G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|1/2|c.-21+2615G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000484072|processed_transcript|2/2|n.141+2615G>A|||||| 22 19839352 . G A . . ANN=A|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000328554|protein_coding|3/3|c.433C>T|p.Arg145Cys|936/6619|433/1095|145/364||,A|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000407472|protein_coding|3/3|c.433C>T|p.Arg145Cys|832/6523|433/1095|145/364||,A|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000405640|protein_coding|2/2|c.433C>T|p.Arg145Cys|1102/6785|433/1095|145/364||,A|downstream_gene_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000416337|protein_coding||c.*730C>T|||||160|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|2/7|c.-21+2614C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|1/6|c.-21+2614C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|2/7|c.-21+2614C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.222+2614C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.374+2614C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|1/2|c.-21+2614C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000484072|processed_transcript|2/2|n.141+2614C>T|||||| 22 19839355 . T C . . ANN=C|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000328554|protein_coding|3/3|c.430A>G|p.Arg144Gly|933/6619|430/1095|144/364||,C|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000407472|protein_coding|3/3|c.430A>G|p.Arg144Gly|829/6523|430/1095|144/364||,C|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000405640|protein_coding|2/2|c.430A>G|p.Arg144Gly|1099/6785|430/1095|144/364||,C|downstream_gene_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000416337|protein_coding||c.*730A>G|||||157|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|2/7|c.-21+2611A>G||||||,C|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|1/6|c.-21+2611A>G||||||,C|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|2/7|c.-21+2611A>G||||||,C|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.222+2611A>G||||||,C|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.374+2611A>G||||||,C|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|1/2|c.-21+2611A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000484072|processed_transcript|2/2|n.141+2611A>G|||||| 22 19839365 . G A . . ANN=A|synonymous_variant|LOW|C22orf29|ENSG00000215012|transcript|ENST00000328554|protein_coding|3/3|c.420C>T|p.Cys140Cys|923/6619|420/1095|140/364||,A|synonymous_variant|LOW|C22orf29|ENSG00000215012|transcript|ENST00000407472|protein_coding|3/3|c.420C>T|p.Cys140Cys|819/6523|420/1095|140/364||,A|synonymous_variant|LOW|C22orf29|ENSG00000215012|transcript|ENST00000405640|protein_coding|2/2|c.420C>T|p.Cys140Cys|1089/6785|420/1095|140/364||,A|downstream_gene_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000416337|protein_coding||c.*730C>T|||||147|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|2/7|c.-21+2601C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|1/6|c.-21+2601C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|2/7|c.-21+2601C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.222+2601C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.374+2601C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|1/2|c.-21+2601C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000484072|processed_transcript|2/2|n.141+2601C>T|||||| 22 19839378 . ATGT A . . ANN=|disruptive_inframe_deletion|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000328554|protein_coding|3/3|c.404_406delACA|p.Asn135del|909/6619|404/1095|135/364||,|disruptive_inframe_deletion|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000407472|protein_coding|3/3|c.404_406delACA|p.Asn135del|805/6523|404/1095|135/364||,|disruptive_inframe_deletion|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000405640|protein_coding|2/2|c.404_406delACA|p.Asn135del|1075/6785|404/1095|135/364||,|downstream_gene_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000416337|protein_coding||c.*730_*730delACA|||||133|WARNING_TRANSCRIPT_NO_STOP_CODON,|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|2/7|c.-21+2585_-21+2587delACA||||||,|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|1/6|c.-21+2585_-21+2587delACA||||||,|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|2/7|c.-21+2585_-21+2587delACA||||||,|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.222+2585_222+2587delACA||||||,|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.374+2585_374+2587delACA||||||,|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|1/2|c.-21+2585_-21+2587delACA||||||WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000484072|processed_transcript|2/2|n.141+2585_141+2587delACA|||||| 22 19839418 . C A . . ANN=A|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000328554|protein_coding|3/3|c.367G>T|p.Asp123Tyr|870/6619|367/1095|123/364||,A|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000407472|protein_coding|3/3|c.367G>T|p.Asp123Tyr|766/6523|367/1095|123/364||,A|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000405640|protein_coding|2/2|c.367G>T|p.Asp123Tyr|1036/6785|367/1095|123/364||,A|sequence_feature|LOW|C22orf29|ENSG00000215012|short_sequence_motif:BH3|ENST00000407472|protein_coding|3/3|c.367G>T||||||,A|downstream_gene_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000416337|protein_coding||c.*730G>T|||||94|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|2/7|c.-21+2548G>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|1/6|c.-21+2548G>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|2/7|c.-21+2548G>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.222+2548G>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.374+2548G>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|1/2|c.-21+2548G>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000484072|processed_transcript|2/2|n.141+2548G>T|||||| 22 19839438 . C T . . ANN=T|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000328554|protein_coding|3/3|c.347G>A|p.Arg116His|850/6619|347/1095|116/364||,T|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000407472|protein_coding|3/3|c.347G>A|p.Arg116His|746/6523|347/1095|116/364||,T|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000405640|protein_coding|2/2|c.347G>A|p.Arg116His|1016/6785|347/1095|116/364||,T|sequence_feature|LOW|C22orf29|ENSG00000215012|short_sequence_motif:BH3|ENST00000407472|protein_coding|3/3|c.347G>A||||||,T|downstream_gene_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000416337|protein_coding||c.*730G>A|||||74|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|2/7|c.-21+2528G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|1/6|c.-21+2528G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|2/7|c.-21+2528G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.222+2528G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.374+2528G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|1/2|c.-21+2528G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000484072|processed_transcript|2/2|n.141+2528G>A|||||| 22 19839453 . G A . . ANN=A|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000328554|protein_coding|3/3|c.332C>T|p.Pro111Leu|835/6619|332/1095|111/364||,A|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000407472|protein_coding|3/3|c.332C>T|p.Pro111Leu|731/6523|332/1095|111/364||,A|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000405640|protein_coding|2/2|c.332C>T|p.Pro111Leu|1001/6785|332/1095|111/364||,A|downstream_gene_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000416337|protein_coding||c.*730C>T|||||59|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|2/7|c.-21+2513C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|1/6|c.-21+2513C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|2/7|c.-21+2513C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.222+2513C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.374+2513C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|1/2|c.-21+2513C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000484072|processed_transcript|2/2|n.141+2513C>T|||||| 22 19839467 . G A . . ANN=A|synonymous_variant|LOW|C22orf29|ENSG00000215012|transcript|ENST00000328554|protein_coding|3/3|c.318C>T|p.Thr106Thr|821/6619|318/1095|106/364||,A|synonymous_variant|LOW|C22orf29|ENSG00000215012|transcript|ENST00000407472|protein_coding|3/3|c.318C>T|p.Thr106Thr|717/6523|318/1095|106/364||,A|synonymous_variant|LOW|C22orf29|ENSG00000215012|transcript|ENST00000405640|protein_coding|2/2|c.318C>T|p.Thr106Thr|987/6785|318/1095|106/364||,A|downstream_gene_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000416337|protein_coding||c.*730C>T|||||45|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|2/7|c.-21+2499C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|1/6|c.-21+2499C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|2/7|c.-21+2499C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.222+2499C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.374+2499C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|1/2|c.-21+2499C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000484072|processed_transcript|2/2|n.141+2499C>T|||||| 22 19839516 . C T . . ANN=T|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000328554|protein_coding|3/3|c.269G>A|p.Arg90Gln|772/6619|269/1095|90/364||,T|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000407472|protein_coding|3/3|c.269G>A|p.Arg90Gln|668/6523|269/1095|90/364||,T|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000405640|protein_coding|2/2|c.269G>A|p.Arg90Gln|938/6785|269/1095|90/364||,T|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000416337|protein_coding|3/3|c.269G>A|p.Arg90Gln|726/730|269/273|90/90||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|2/7|c.-21+2450G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|1/6|c.-21+2450G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|2/7|c.-21+2450G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.222+2450G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.374+2450G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|1/2|c.-21+2450G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000484072|processed_transcript|2/2|n.141+2450G>A|||||| 22 19839517 . G A . . ANN=A|stop_gained|HIGH|C22orf29|ENSG00000215012|transcript|ENST00000328554|protein_coding|3/3|c.268C>T|p.Arg90*|771/6619|268/1095|90/364||,A|stop_gained|HIGH|C22orf29|ENSG00000215012|transcript|ENST00000407472|protein_coding|3/3|c.268C>T|p.Arg90*|667/6523|268/1095|90/364||,A|stop_gained|HIGH|C22orf29|ENSG00000215012|transcript|ENST00000405640|protein_coding|2/2|c.268C>T|p.Arg90*|937/6785|268/1095|90/364||,A|stop_gained|HIGH|C22orf29|ENSG00000215012|transcript|ENST00000416337|protein_coding|3/3|c.268C>T|p.Arg90*|725/730|268/273|90/90||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|2/7|c.-21+2449C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|1/6|c.-21+2449C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|2/7|c.-21+2449C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.222+2449C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.374+2449C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|1/2|c.-21+2449C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000484072|processed_transcript|2/2|n.141+2449C>T|||||| 22 19839523 . T C . . ANN=C|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000328554|protein_coding|3/3|c.262A>G|p.Ser88Gly|765/6619|262/1095|88/364||,C|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000407472|protein_coding|3/3|c.262A>G|p.Ser88Gly|661/6523|262/1095|88/364||,C|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000405640|protein_coding|2/2|c.262A>G|p.Ser88Gly|931/6785|262/1095|88/364||,C|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000416337|protein_coding|3/3|c.262A>G|p.Ser88Gly|719/730|262/273|88/90||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|2/7|c.-21+2443A>G||||||,C|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|1/6|c.-21+2443A>G||||||,C|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|2/7|c.-21+2443A>G||||||,C|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.222+2443A>G||||||,C|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.374+2443A>G||||||,C|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|1/2|c.-21+2443A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000484072|processed_transcript|2/2|n.141+2443A>G|||||| 22 19839566 . G A . . ANN=A|synonymous_variant|LOW|C22orf29|ENSG00000215012|transcript|ENST00000328554|protein_coding|3/3|c.219C>T|p.Gly73Gly|722/6619|219/1095|73/364||,A|synonymous_variant|LOW|C22orf29|ENSG00000215012|transcript|ENST00000407472|protein_coding|3/3|c.219C>T|p.Gly73Gly|618/6523|219/1095|73/364||,A|synonymous_variant|LOW|C22orf29|ENSG00000215012|transcript|ENST00000405640|protein_coding|2/2|c.219C>T|p.Gly73Gly|888/6785|219/1095|73/364||,A|synonymous_variant|LOW|C22orf29|ENSG00000215012|transcript|ENST00000416337|protein_coding|3/3|c.219C>T|p.Gly73Gly|676/730|219/273|73/90||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|2/7|c.-21+2400C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|1/6|c.-21+2400C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|2/7|c.-21+2400C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.222+2400C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.374+2400C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|1/2|c.-21+2400C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000484072|processed_transcript|2/2|n.141+2400C>T|||||| 22 19839606 . G A . . ANN=A|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000328554|protein_coding|3/3|c.179C>T|p.Thr60Met|682/6619|179/1095|60/364||,A|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000407472|protein_coding|3/3|c.179C>T|p.Thr60Met|578/6523|179/1095|60/364||,A|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000405640|protein_coding|2/2|c.179C>T|p.Thr60Met|848/6785|179/1095|60/364||,A|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000416337|protein_coding|3/3|c.179C>T|p.Thr60Met|636/730|179/273|60/90||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|2/7|c.-21+2360C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|1/6|c.-21+2360C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|2/7|c.-21+2360C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.222+2360C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.374+2360C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|1/2|c.-21+2360C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000484072|processed_transcript|2/2|n.141+2360C>T|||||| 22 19839727 . T A . . ANN=A|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000328554|protein_coding|3/3|c.58A>T|p.Asn20Tyr|561/6619|58/1095|20/364||,A|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000407472|protein_coding|3/3|c.58A>T|p.Asn20Tyr|457/6523|58/1095|20/364||,A|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000405640|protein_coding|2/2|c.58A>T|p.Asn20Tyr|727/6785|58/1095|20/364||,A|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000416337|protein_coding|3/3|c.58A>T|p.Asn20Tyr|515/730|58/273|20/90||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|2/7|c.-21+2239A>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|1/6|c.-21+2239A>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|2/7|c.-21+2239A>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.222+2239A>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.374+2239A>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|1/2|c.-21+2239A>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000484072|processed_transcript|2/2|n.141+2239A>T|||||| 22 19839757 . CCTG C . . ANN=|inframe_deletion|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000328554|protein_coding|3/3|c.25_27delCAG|p.Gln9del|530/6619|25/1095|9/364||,|inframe_deletion|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000407472|protein_coding|3/3|c.25_27delCAG|p.Gln9del|426/6523|25/1095|9/364||,|inframe_deletion|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000405640|protein_coding|2/2|c.25_27delCAG|p.Gln9del|696/6785|25/1095|9/364||,|inframe_deletion|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000416337|protein_coding|3/3|c.25_27delCAG|p.Gln9del|484/730|25/273|9/90||WARNING_TRANSCRIPT_NO_STOP_CODON,|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|2/7|c.-21+2206_-21+2208delCAG||||||,|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|1/6|c.-21+2206_-21+2208delCAG||||||,|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|2/7|c.-21+2206_-21+2208delCAG||||||,|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.222+2206_222+2208delCAG||||||,|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.374+2206_374+2208delCAG||||||,|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|1/2|c.-21+2206_-21+2208delCAG||||||WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000484072|processed_transcript|2/2|n.141+2206_141+2208delCAG|||||| 22 19839761 . C A . . ANN=A|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000328554|protein_coding|3/3|c.24G>T|p.Gln8His|527/6619|24/1095|8/364||,A|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000407472|protein_coding|3/3|c.24G>T|p.Gln8His|423/6523|24/1095|8/364||,A|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000405640|protein_coding|2/2|c.24G>T|p.Gln8His|693/6785|24/1095|8/364||,A|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000416337|protein_coding|3/3|c.24G>T|p.Gln8His|481/730|24/273|8/90||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|2/7|c.-21+2205G>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|1/6|c.-21+2205G>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|2/7|c.-21+2205G>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.222+2205G>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.374+2205G>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|1/2|c.-21+2205G>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000484072|processed_transcript|2/2|n.141+2205G>T|||||| 22 19864649 . C T . . ANN=T|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|17/18|c.1554G>A|p.Thr518Thr|1561/1933|1554/1575|518/524||,T|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|17/18|c.1464G>A|p.Thr488Thr|1648/2025|1464/1485|488/494||,T|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|17/17|c.1551G>A|p.Thr517Thr|1551/3130|1551/1572|517/523||,T|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|17/17|c.1551G>A|p.Thr517Thr|1551/3130|1551/1566|517/521||,T|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|17/18|c.1464G>A|p.Thr488Thr|1523/1814|1464/1479|488/492||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|12/13|n.1628G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|16/17|n.1479G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462330|processed_transcript|6/7|n.757G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000487165|retained_intron|6/7|n.1648G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|16/17|n.1485G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000495655|retained_intron|5/5|n.1098G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000485358|processed_transcript|6/7|n.597G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462843|processed_transcript|7/8|n.677G>A|||||| 22 19864669 . G A . . ANN=A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|17/18|c.1534C>T|p.Arg512Cys|1541/1933|1534/1575|512/524||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|17/18|c.1444C>T|p.Arg482Cys|1628/2025|1444/1485|482/494||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|17/17|c.1531C>T|p.Arg511Cys|1531/3130|1531/1572|511/523||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|17/17|c.1531C>T|p.Arg511Cys|1531/3130|1531/1566|511/521||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|17/18|c.1444C>T|p.Arg482Cys|1503/1814|1444/1479|482/492||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|12/13|n.1608C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|16/17|n.1459C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462330|processed_transcript|6/7|n.737C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000487165|retained_intron|6/7|n.1628C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|16/17|n.1465C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000495655|retained_intron|5/5|n.1078C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000485358|processed_transcript|6/7|n.577C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462843|processed_transcript|7/8|n.657C>T|||||| 22 19864680 . C T . . ANN=T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|17/18|c.1523G>A|p.Arg508His|1530/1933|1523/1575|508/524||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|17/18|c.1433G>A|p.Arg478His|1617/2025|1433/1485|478/494||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|17/17|c.1520G>A|p.Arg507His|1520/3130|1520/1572|507/523||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|17/17|c.1520G>A|p.Arg507His|1520/3130|1520/1566|507/521||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|17/18|c.1433G>A|p.Arg478His|1492/1814|1433/1479|478/492||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|12/13|n.1597G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|16/17|n.1448G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462330|processed_transcript|6/7|n.726G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000487165|retained_intron|6/7|n.1617G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|16/17|n.1454G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000495655|retained_intron|5/5|n.1067G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000485358|processed_transcript|6/7|n.566G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462843|processed_transcript|7/8|n.646G>A|||||| 22 19864729 . G A . . ANN=A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|17/18|c.1474C>T|p.Arg492Trp|1481/1933|1474/1575|492/524||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|17/18|c.1384C>T|p.Arg462Trp|1568/2025|1384/1485|462/494||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|17/17|c.1471C>T|p.Arg491Trp|1471/3130|1471/1572|491/523||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|17/17|c.1471C>T|p.Arg491Trp|1471/3130|1471/1566|491/521||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|17/18|c.1384C>T|p.Arg462Trp|1443/1814|1384/1479|462/492||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|12/13|n.1548C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|16/17|n.1399C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462330|processed_transcript|6/7|n.677C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000487165|retained_intron|6/7|n.1568C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|16/17|n.1405C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000495655|retained_intron|5/5|n.1018C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000485358|processed_transcript|6/7|n.517C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462843|processed_transcript|7/8|n.597C>T|||||| 22 19865595 . G A . . ANN=A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|16/17|c.1445+18C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|16/17|c.1355+18C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|11/12|n.1519+18C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|15/16|n.1392+18C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462330|processed_transcript|5/6|n.648+18C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000487165|retained_intron|5/6|n.1539+18C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|15/16|n.1376+18C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000495655|retained_intron|4/4|n.989+18C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|16/16|c.1442+18C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|16/16|c.1442+18C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|16/17|c.1355+18C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000485358|processed_transcript|5/6|n.488+18C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462843|processed_transcript|6/7|n.568+18C>T|||||| 22 19865606 . GACTT G . . ANN=|splice_region_variant&intron_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|16/17|c.1445+3_1445+6delAAGT||||||,|splice_region_variant&intron_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|16/17|c.1355+3_1355+6delAAGT||||||,|splice_region_variant&intron_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|11/12|n.1519+3_1519+6delAAGT||||||,|splice_region_variant&intron_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|15/16|n.1392+3_1392+6delAAGT||||||,|splice_region_variant&intron_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000462330|processed_transcript|5/6|n.648+3_648+6delAAGT||||||,|splice_region_variant&intron_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000487165|retained_intron|5/6|n.1539+3_1539+6delAAGT||||||,|splice_region_variant&intron_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|15/16|n.1376+3_1376+6delAAGT||||||,|splice_region_variant&intron_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000495655|retained_intron|4/4|n.989+3_989+6delAAGT||||||,|splice_region_variant&intron_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|16/16|c.1442+3_1442+6delAAGT||||||,|splice_region_variant&intron_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|16/16|c.1442+3_1442+6delAAGT||||||,|splice_region_variant&intron_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|16/17|c.1355+3_1355+6delAAGT||||||,|splice_region_variant&intron_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000485358|processed_transcript|5/6|n.488+3_488+6delAAGT||||||,|splice_region_variant&intron_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000462843|processed_transcript|6/7|n.568+3_568+6delAAGT|||||| 22 19865651 . G C . . ANN=C|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|16/18|c.1407C>G|p.Asn469Lys|1414/1933|1407/1575|469/524||,C|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|16/18|c.1317C>G|p.Asn439Lys|1501/2025|1317/1485|439/494||,C|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|16/17|c.1404C>G|p.Asn468Lys|1404/3130|1404/1572|468/523||,C|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|16/17|c.1404C>G|p.Asn468Lys|1404/3130|1404/1566|468/521||,C|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|16/18|c.1317C>G|p.Asn439Lys|1376/1814|1317/1479|439/492||,C|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|11/13|n.1481C>G||||||,C|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|15/17|n.1354C>G||||||,C|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462330|processed_transcript|5/7|n.610C>G||||||,C|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000487165|retained_intron|5/7|n.1501C>G||||||,C|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|15/17|n.1338C>G||||||,C|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000495655|retained_intron|4/5|n.951C>G||||||,C|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000485358|processed_transcript|5/7|n.450C>G||||||,C|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462843|processed_transcript|6/8|n.530C>G|||||| 22 19865759 . G A . . ANN=A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|15/17|c.1348-49C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|15/17|c.1258-49C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|10/12|n.1422-49C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|14/16|n.1295-49C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462330|processed_transcript|4/6|n.551-49C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000487165|retained_intron|4/6|n.1442-49C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|14/16|n.1279-49C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000495655|retained_intron|3/4|n.892-49C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|15/16|c.1345-49C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|15/16|c.1345-49C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|15/17|c.1258-49C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000485358|processed_transcript|4/6|n.391-49C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462843|processed_transcript|5/7|n.471-49C>T|||||| 22 19865869 . T C . . ANN=C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|15/17|c.1347+20A>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|15/17|c.1257+20A>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|10/12|n.1421+20A>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|14/16|n.1294+20A>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462330|processed_transcript|4/6|n.550+20A>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000487165|retained_intron|4/6|n.1441+20A>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|14/16|n.1278+20A>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000495655|retained_intron|3/4|n.891+20A>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|15/16|c.1344+20A>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|15/16|c.1344+20A>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|15/17|c.1257+20A>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000485358|processed_transcript|4/6|n.390+20A>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462843|processed_transcript|5/7|n.470+20A>G|||||| 22 19867658 . G A . . ANN=A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|14/17|c.1275+44C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|14/17|c.1185+44C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|9/12|n.1349+44C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|13/16|n.1222+44C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462330|processed_transcript|3/6|n.478+44C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000487165|retained_intron|3/6|n.1369+44C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|13/16|n.1206+44C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000495655|retained_intron|2/4|n.819+44C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|14/16|c.1272+44C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|14/16|c.1272+44C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|14/17|c.1185+44C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000485358|processed_transcript|3/6|n.318+44C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462843|processed_transcript|4/7|n.398+44C>T|||||| 22 19867744 . G A . . ANN=A|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|14/18|c.1233C>T|p.Ser411Ser|1240/1933|1233/1575|411/524||,A|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|14/18|c.1143C>T|p.Ser381Ser|1327/2025|1143/1485|381/494||,A|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|14/17|c.1230C>T|p.Ser410Ser|1230/3130|1230/1572|410/523||,A|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|14/17|c.1230C>T|p.Ser410Ser|1230/3130|1230/1566|410/521||,A|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|14/18|c.1143C>T|p.Ser381Ser|1202/1814|1143/1479|381/492||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|9/13|n.1307C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|13/17|n.1180C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462330|processed_transcript|3/7|n.436C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000487165|retained_intron|3/7|n.1327C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|13/17|n.1164C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000495655|retained_intron|2/5|n.777C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000485358|processed_transcript|3/7|n.276C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462843|processed_transcript|4/8|n.356C>T|||||| 22 19867771 . C T . . ANN=T|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|14/18|c.1206G>A|p.Pro402Pro|1213/1933|1206/1575|402/524||,T|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|14/18|c.1116G>A|p.Pro372Pro|1300/2025|1116/1485|372/494||,T|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|14/17|c.1203G>A|p.Pro401Pro|1203/3130|1203/1572|401/523||,T|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|14/17|c.1203G>A|p.Pro401Pro|1203/3130|1203/1566|401/521||,T|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|14/18|c.1116G>A|p.Pro372Pro|1175/1814|1116/1479|372/492||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|9/13|n.1280G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|13/17|n.1153G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462330|processed_transcript|3/7|n.409G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000487165|retained_intron|3/7|n.1300G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|13/17|n.1137G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000495655|retained_intron|2/5|n.750G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000485358|processed_transcript|3/7|n.249G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462843|processed_transcript|4/8|n.329G>A|||||| 22 19867810 . G A . . ANN=A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|13/17|c.1183-16C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|13/17|c.1093-16C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|8/12|n.1257-16C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|12/16|n.1130-16C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462330|processed_transcript|2/6|n.386-16C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000487165|retained_intron|2/6|n.1277-16C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|12/16|n.1114-16C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000495655|retained_intron|1/4|n.727-16C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|13/16|c.1180-16C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|13/16|c.1180-16C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|13/17|c.1093-16C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000485358|processed_transcript|2/6|n.226-16C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462843|processed_transcript|3/7|n.306-16C>T|||||| 22 19867818 . G C . . ANN=C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|13/17|c.1183-24C>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|13/17|c.1093-24C>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|8/12|n.1257-24C>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|12/16|n.1130-24C>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462330|processed_transcript|2/6|n.386-24C>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000487165|retained_intron|2/6|n.1277-24C>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|12/16|n.1114-24C>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000495655|retained_intron|1/4|n.727-24C>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|13/16|c.1180-24C>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|13/16|c.1180-24C>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|13/17|c.1093-24C>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000485358|processed_transcript|2/6|n.226-24C>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462843|processed_transcript|3/7|n.306-24C>G|||||| 22 19868096 . G A . . ANN=A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|13/17|c.1182+49C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|13/17|c.1092+49C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|8/12|n.1256+49C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|12/16|n.1129+49C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462330|processed_transcript|2/6|n.385+49C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000487165|retained_intron|2/6|n.1276+49C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|12/16|n.1113+49C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000495655|retained_intron|1/4|n.726+49C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|13/16|c.1179+49C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|13/16|c.1179+49C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|13/17|c.1092+49C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000485358|processed_transcript|2/6|n.225+49C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462843|processed_transcript|3/7|n.305+49C>T|||||| 22 19868177 . C T . . ANN=T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|13/18|c.1150G>A|p.Gly384Ser|1157/1933|1150/1575|384/524||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|13/18|c.1060G>A|p.Gly354Ser|1244/2025|1060/1485|354/494||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|13/17|c.1147G>A|p.Gly383Ser|1147/3130|1147/1572|383/523||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|13/17|c.1147G>A|p.Gly383Ser|1147/3130|1147/1566|383/521||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|13/18|c.1060G>A|p.Gly354Ser|1119/1814|1060/1479|354/492||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|8/13|n.1224G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|12/17|n.1097G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462330|processed_transcript|2/7|n.353G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000487165|retained_intron|2/7|n.1244G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|12/17|n.1081G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000495655|retained_intron|1/5|n.694G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000485358|processed_transcript|2/7|n.193G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462843|processed_transcript|3/8|n.273G>A|||||| 22 19868190 . C G . . ANN=G|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|13/18|c.1137G>C|p.Val379Val|1144/1933|1137/1575|379/524||,G|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|13/18|c.1047G>C|p.Val349Val|1231/2025|1047/1485|349/494||,G|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|13/17|c.1134G>C|p.Val378Val|1134/3130|1134/1572|378/523||,G|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|13/17|c.1134G>C|p.Val378Val|1134/3130|1134/1566|378/521||,G|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|13/18|c.1047G>C|p.Val349Val|1106/1814|1047/1479|349/492||,G|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|8/13|n.1211G>C||||||,G|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|12/17|n.1084G>C||||||,G|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462330|processed_transcript|2/7|n.340G>C||||||,G|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000487165|retained_intron|2/7|n.1231G>C||||||,G|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|12/17|n.1068G>C||||||,G|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000495655|retained_intron|1/5|n.681G>C||||||,G|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000485358|processed_transcript|2/7|n.180G>C||||||,G|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462843|processed_transcript|3/8|n.260G>C|||||| 22 19868215 . G A . . ANN=A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|13/18|c.1112C>T|p.Ala371Val|1119/1933|1112/1575|371/524||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|13/18|c.1022C>T|p.Ala341Val|1206/2025|1022/1485|341/494||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|13/17|c.1109C>T|p.Ala370Val|1109/3130|1109/1572|370/523||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|13/17|c.1109C>T|p.Ala370Val|1109/3130|1109/1566|370/521||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|13/18|c.1022C>T|p.Ala341Val|1081/1814|1022/1479|341/492||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|8/13|n.1186C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|12/17|n.1059C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462330|processed_transcript|2/7|n.315C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000487165|retained_intron|2/7|n.1206C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|12/17|n.1043C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000495655|retained_intron|1/5|n.656C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000485358|processed_transcript|2/7|n.155C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462843|processed_transcript|3/8|n.235C>T|||||| 22 19868218 . A G . . ANN=G|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|13/18|c.1109T>C|p.Ile370Thr|1116/1933|1109/1575|370/524||,G|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|13/18|c.1019T>C|p.Ile340Thr|1203/2025|1019/1485|340/494||,G|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|13/17|c.1106T>C|p.Ile369Thr|1106/3130|1106/1572|369/523||,G|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|13/17|c.1106T>C|p.Ile369Thr|1106/3130|1106/1566|369/521||,G|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|13/18|c.1019T>C|p.Ile340Thr|1078/1814|1019/1479|340/492||,G|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|8/13|n.1183T>C||||||,G|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|12/17|n.1056T>C||||||,G|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462330|processed_transcript|2/7|n.312T>C||||||,G|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000487165|retained_intron|2/7|n.1203T>C||||||,G|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|12/17|n.1040T>C||||||,G|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000495655|retained_intron|1/5|n.653T>C||||||,G|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000485358|processed_transcript|2/7|n.152T>C||||||,G|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462843|processed_transcript|3/8|n.232T>C|||||| 22 19868228 . G A . . ANN=A|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|13/18|c.1099C>T|p.Leu367Leu|1106/1933|1099/1575|367/524||,A|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|13/18|c.1009C>T|p.Leu337Leu|1193/2025|1009/1485|337/494||,A|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|13/17|c.1096C>T|p.Leu366Leu|1096/3130|1096/1572|366/523||,A|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|13/17|c.1096C>T|p.Leu366Leu|1096/3130|1096/1566|366/521||,A|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|13/18|c.1009C>T|p.Leu337Leu|1068/1814|1009/1479|337/492||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|8/13|n.1173C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|12/17|n.1046C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462330|processed_transcript|2/7|n.302C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000487165|retained_intron|2/7|n.1193C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|12/17|n.1030C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000495655|retained_intron|1/5|n.643C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000485358|processed_transcript|2/7|n.142C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462843|processed_transcript|3/8|n.222C>T|||||| 22 19868236 . C T . . ANN=T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|13/18|c.1091G>A|p.Arg364Gln|1098/1933|1091/1575|364/524||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|13/18|c.1001G>A|p.Arg334Gln|1185/2025|1001/1485|334/494||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|13/17|c.1088G>A|p.Arg363Gln|1088/3130|1088/1572|363/523||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|13/17|c.1088G>A|p.Arg363Gln|1088/3130|1088/1566|363/521||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|13/18|c.1001G>A|p.Arg334Gln|1060/1814|1001/1479|334/492||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|8/13|n.1165G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|12/17|n.1038G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462330|processed_transcript|2/7|n.294G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000487165|retained_intron|2/7|n.1185G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|12/17|n.1022G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000495655|retained_intron|1/5|n.635G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000485358|processed_transcript|2/7|n.134G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462843|processed_transcript|3/8|n.214G>A|||||| 22 19868255 . AG A . . ANN=|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|12/17|c.1087-16delC||||||,|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|12/17|c.997-16delC||||||,|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|7/12|n.1161-16delC||||||,|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|11/16|n.1034-16delC||||||,|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462330|processed_transcript|1/6|n.290-16delC||||||,|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000487165|retained_intron|1/6|n.1181-16delC||||||,|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|11/16|n.1018-16delC||||||,|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|12/16|c.1084-16delC||||||,|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|12/16|c.1084-16delC||||||,|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|12/17|c.997-16delC||||||,|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000485358|processed_transcript|1/6|n.130-16delC||||||,|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462843|processed_transcript|2/7|n.210-16delC||||||,|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000495655|retained_intron|1/5|n.615delC|||||| 22 19868262 . C G . . ANN=G|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|12/17|c.1087-22G>C||||||,G|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|12/17|c.997-22G>C||||||,G|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|7/12|n.1161-22G>C||||||,G|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|11/16|n.1034-22G>C||||||,G|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462330|processed_transcript|1/6|n.290-22G>C||||||,G|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000487165|retained_intron|1/6|n.1181-22G>C||||||,G|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|11/16|n.1018-22G>C||||||,G|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|12/16|c.1084-22G>C||||||,G|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|12/16|c.1084-22G>C||||||,G|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|12/17|c.997-22G>C||||||,G|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000485358|processed_transcript|1/6|n.130-22G>C||||||,G|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462843|processed_transcript|2/7|n.210-22G>C||||||,G|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000495655|retained_intron|1/5|n.609G>C|||||| 22 19870831 . C T . . ANN=T|upstream_gene_variant|MODIFIER|AC000078.5|ENSG00000232926|transcript|ENST00000420617|processed_pseudogene||n.-1C>T|||||3981|,T|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462330|processed_transcript||n.-1G>A|||||1939|,T|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000495655|retained_intron||n.-1G>A|||||1961|,T|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000485358|processed_transcript||n.-1G>A|||||2144|,T|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462843|processed_transcript||n.-1G>A|||||2154|,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|12/17|c.1086+17G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|12/17|c.996+17G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|7/12|n.1160+17G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|11/16|n.1033+17G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000487165|retained_intron|1/6|n.1180+17G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|11/16|n.1017+17G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|12/16|c.1083+17G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|12/16|c.1083+17G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|12/17|c.996+17G>A|||||| 22 19870857 . G A . . ANN=A|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|12/18|c.1077C>T|p.Asp359Asp|1084/1933|1077/1575|359/524||,A|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|12/18|c.987C>T|p.Asp329Asp|1171/2025|987/1485|329/494||,A|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|12/17|c.1074C>T|p.Asp358Asp|1074/3130|1074/1572|358/523||,A|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|12/17|c.1074C>T|p.Asp358Asp|1074/3130|1074/1566|358/521||,A|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|12/18|c.987C>T|p.Asp329Asp|1046/1814|987/1479|329/492||,A|upstream_gene_variant|MODIFIER|AC000078.5|ENSG00000232926|transcript|ENST00000420617|processed_pseudogene||n.-1G>A|||||3955|,A|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462330|processed_transcript||n.-1C>T|||||1965|,A|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000495655|retained_intron||n.-1C>T|||||1987|,A|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000485358|processed_transcript||n.-1C>T|||||2170|,A|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462843|processed_transcript||n.-1C>T|||||2180|,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|7/13|n.1151C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|11/17|n.1024C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000487165|retained_intron|1/7|n.1171C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|11/17|n.1008C>T|||||| 22 19870897 . C T . . ANN=T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|12/18|c.1037G>A|p.Arg346Gln|1044/1933|1037/1575|346/524||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|12/18|c.947G>A|p.Arg316Gln|1131/2025|947/1485|316/494||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|12/17|c.1034G>A|p.Arg345Gln|1034/3130|1034/1572|345/523||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|12/17|c.1034G>A|p.Arg345Gln|1034/3130|1034/1566|345/521||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|12/18|c.947G>A|p.Arg316Gln|1006/1814|947/1479|316/492||,T|upstream_gene_variant|MODIFIER|AC000078.5|ENSG00000232926|transcript|ENST00000420617|processed_pseudogene||n.-1C>T|||||3915|,T|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462330|processed_transcript||n.-1G>A|||||2005|,T|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000495655|retained_intron||n.-1G>A|||||2027|,T|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000485358|processed_transcript||n.-1G>A|||||2210|,T|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462843|processed_transcript||n.-1G>A|||||2220|,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|7/13|n.1111G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|11/17|n.984G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000487165|retained_intron|1/7|n.1131G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|11/17|n.968G>A|||||| 22 19870918 . T A . . ANN=A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|12/18|c.1016A>T|p.Gln339Leu|1023/1933|1016/1575|339/524||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|12/18|c.926A>T|p.Gln309Leu|1110/2025|926/1485|309/494||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|12/17|c.1013A>T|p.Gln338Leu|1013/3130|1013/1572|338/523||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|12/17|c.1013A>T|p.Gln338Leu|1013/3130|1013/1566|338/521||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|12/18|c.926A>T|p.Gln309Leu|985/1814|926/1479|309/492||,A|upstream_gene_variant|MODIFIER|AC000078.5|ENSG00000232926|transcript|ENST00000420617|processed_pseudogene||n.-1T>A|||||3894|,A|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462330|processed_transcript||n.-1A>T|||||2026|,A|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000495655|retained_intron||n.-1A>T|||||2048|,A|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000485358|processed_transcript||n.-1A>T|||||2231|,A|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462843|processed_transcript||n.-1A>T|||||2241|,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|7/13|n.1090A>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|11/17|n.963A>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000487165|retained_intron|1/7|n.1110A>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|11/17|n.947A>T|||||| 22 19871018 . C T . . ANN=T|upstream_gene_variant|MODIFIER|AC000078.5|ENSG00000232926|transcript|ENST00000420617|processed_pseudogene||n.-1C>T|||||3794|,T|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462330|processed_transcript||n.-1G>A|||||2126|,T|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000495655|retained_intron||n.-1G>A|||||2148|,T|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000485358|processed_transcript||n.-1G>A|||||2331|,T|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462843|processed_transcript||n.-1G>A|||||2341|,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|11/17|c.950-34G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|11/17|c.860-34G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|6/12|n.1024-34G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|10/16|n.897-34G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|10/16|n.881-34G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|11/16|c.947-34G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|11/16|c.947-34G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|11/17|c.860-34G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000487165|retained_intron|1/7|n.1010G>A|||||| 22 19882888 . G A . . ANN=A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|11/17|c.949+42C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|11/17|c.859+42C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|6/12|n.1023+42C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|10/16|n.896+42C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|10/16|n.880+42C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|11/16|c.946+42C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|11/16|c.946+42C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|11/17|c.859+42C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000334363|protein_coding|11/11|c.949+42C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000491939|processed_transcript|11/11|n.939+42C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000475995|processed_transcript|2/2|n.267+42C>T|||||| 22 19882946 . G A . . ANN=A|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|11/18|c.933C>T|p.Thr311Thr|940/1933|933/1575|311/524||,A|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|11/18|c.843C>T|p.Thr281Thr|1027/2025|843/1485|281/494||,A|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|11/17|c.930C>T|p.Thr310Thr|930/3130|930/1572|310/523||,A|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|11/17|c.930C>T|p.Thr310Thr|930/3130|930/1566|310/521||,A|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|11/18|c.843C>T|p.Thr281Thr|902/1814|843/1479|281/492||,A|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000334363|protein_coding|11/12|c.933C>T|p.Thr311Thr|934/1893|933/1017|311/338||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|6/13|n.1007C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|10/17|n.880C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|10/17|n.864C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000491939|processed_transcript|11/12|n.923C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000475995|processed_transcript|2/3|n.251C>T|||||| 22 19882976 . G T . . ANN=T|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|11/18|c.903C>A|p.Thr301Thr|910/1933|903/1575|301/524||,T|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|11/18|c.813C>A|p.Thr271Thr|997/2025|813/1485|271/494||,T|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|11/17|c.900C>A|p.Thr300Thr|900/3130|900/1572|300/523||,T|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|11/17|c.900C>A|p.Thr300Thr|900/3130|900/1566|300/521||,T|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|11/18|c.813C>A|p.Thr271Thr|872/1814|813/1479|271/492||,T|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000334363|protein_coding|11/12|c.903C>A|p.Thr301Thr|904/1893|903/1017|301/338||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|6/13|n.977C>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|10/17|n.850C>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|10/17|n.834C>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000491939|processed_transcript|11/12|n.893C>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000475995|processed_transcript|2/3|n.221C>A|||||| 22 19882984 . T G . . ANN=G|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|11/18|c.895A>C|p.Ser299Arg|902/1933|895/1575|299/524||,G|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|11/18|c.805A>C|p.Ser269Arg|989/2025|805/1485|269/494||,G|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|11/17|c.892A>C|p.Ser298Arg|892/3130|892/1572|298/523||,G|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|11/17|c.892A>C|p.Ser298Arg|892/3130|892/1566|298/521||,G|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|11/18|c.805A>C|p.Ser269Arg|864/1814|805/1479|269/492||,G|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000334363|protein_coding|11/12|c.895A>C|p.Ser299Arg|896/1893|895/1017|299/338||,G|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|6/13|n.969A>C||||||,G|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|10/17|n.842A>C||||||,G|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|10/17|n.826A>C||||||,G|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000491939|processed_transcript|11/12|n.885A>C||||||,G|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000475995|processed_transcript|2/3|n.213A>C|||||| 22 19883032 . G A . . ANN=A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|11/18|c.847C>T|p.Arg283Trp|854/1933|847/1575|283/524||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|11/18|c.757C>T|p.Arg253Trp|941/2025|757/1485|253/494||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|11/17|c.844C>T|p.Arg282Trp|844/3130|844/1572|282/523||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|11/17|c.844C>T|p.Arg282Trp|844/3130|844/1566|282/521||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|11/18|c.757C>T|p.Arg253Trp|816/1814|757/1479|253/492||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000334363|protein_coding|11/12|c.847C>T|p.Arg283Trp|848/1893|847/1017|283/338||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|6/13|n.921C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|10/17|n.794C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|10/17|n.778C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000491939|processed_transcript|11/12|n.837C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000475995|processed_transcript|2/3|n.165C>T|||||| 22 19883042 . A G . . ANN=G|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|11/18|c.837T>C|p.Cys279Cys|844/1933|837/1575|279/524||,G|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|11/18|c.747T>C|p.Cys249Cys|931/2025|747/1485|249/494||,G|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|11/17|c.834T>C|p.Cys278Cys|834/3130|834/1572|278/523||,G|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|11/17|c.834T>C|p.Cys278Cys|834/3130|834/1566|278/521||,G|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|11/18|c.747T>C|p.Cys249Cys|806/1814|747/1479|249/492||,G|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000334363|protein_coding|11/12|c.837T>C|p.Cys279Cys|838/1893|837/1017|279/338||,G|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|6/13|n.911T>C||||||,G|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|10/17|n.784T>C||||||,G|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|10/17|n.768T>C||||||,G|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000491939|processed_transcript|11/12|n.827T>C||||||,G|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000475995|processed_transcript|2/3|n.155T>C|||||| 22 19883063 . G A . . ANN=A|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|11/18|c.816C>T|p.Gly272Gly|823/1933|816/1575|272/524||,A|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|11/18|c.726C>T|p.Gly242Gly|910/2025|726/1485|242/494||,A|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|11/17|c.813C>T|p.Gly271Gly|813/3130|813/1572|271/523||,A|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|11/17|c.813C>T|p.Gly271Gly|813/3130|813/1566|271/521||,A|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|11/18|c.726C>T|p.Gly242Gly|785/1814|726/1479|242/492||,A|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000334363|protein_coding|11/12|c.816C>T|p.Gly272Gly|817/1893|816/1017|272/338||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|6/13|n.890C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|10/17|n.763C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|10/17|n.747C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000491939|processed_transcript|11/12|n.806C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000475995|processed_transcript|2/3|n.134C>T|||||| 22 19883123 . C T . . ANN=T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|10/17|c.775-19G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|10/17|c.685-19G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|5/12|n.849-19G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|9/16|n.722-19G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|9/16|n.706-19G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|10/16|c.772-19G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|10/16|c.772-19G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|10/17|c.685-19G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000334363|protein_coding|10/11|c.775-19G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000491939|processed_transcript|10/11|n.765-19G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000475995|processed_transcript|1/2|n.93-19G>A|||||| 22 19885548 . G T . . ANN=T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|10/17|c.774+14C>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|10/17|c.684+14C>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|5/12|n.848+14C>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|9/16|n.721+14C>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|9/16|n.705+14C>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|10/16|c.771+14C>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|10/16|c.771+14C>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|10/17|c.684+14C>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000334363|protein_coding|10/11|c.774+14C>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000491939|processed_transcript|10/11|n.764+14C>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000475995|processed_transcript|1/2|n.92+14C>A|||||| 22 19885573 . C G . . ANN=G|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|10/18|c.763G>C|p.Gly255Arg|770/1933|763/1575|255/524||,G|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|10/18|c.673G>C|p.Gly225Arg|857/2025|673/1485|225/494||,G|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|10/17|c.760G>C|p.Gly254Arg|760/3130|760/1572|254/523||,G|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|10/17|c.760G>C|p.Gly254Arg|760/3130|760/1566|254/521||,G|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|10/18|c.673G>C|p.Gly225Arg|732/1814|673/1479|225/492||,G|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000334363|protein_coding|10/12|c.763G>C|p.Gly255Arg|764/1893|763/1017|255/338||,G|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|5/13|n.837G>C||||||,G|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|9/17|n.710G>C||||||,G|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|9/17|n.694G>C||||||,G|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000491939|processed_transcript|10/12|n.753G>C||||||,G|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000475995|processed_transcript|1/3|n.81G>C|||||| 22 19885574 . G A . . ANN=A|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|10/18|c.762C>T|p.Arg254Arg|769/1933|762/1575|254/524||,A|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|10/18|c.672C>T|p.Arg224Arg|856/2025|672/1485|224/494||,A|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|10/17|c.759C>T|p.Arg253Arg|759/3130|759/1572|253/523||,A|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|10/17|c.759C>T|p.Arg253Arg|759/3130|759/1566|253/521||,A|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|10/18|c.672C>T|p.Arg224Arg|731/1814|672/1479|224/492||,A|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000334363|protein_coding|10/12|c.762C>T|p.Arg254Arg|763/1893|762/1017|254/338||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|5/13|n.836C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|9/17|n.709C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|9/17|n.693C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000491939|processed_transcript|10/12|n.752C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000475995|processed_transcript|1/3|n.80C>T|||||| 22 19886557 . G A . . ANN=A|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000475995|processed_transcript||n.-1C>T|||||904|,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|9/17|c.682+15C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|9/17|c.592+15C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|4/12|n.756+15C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|8/16|n.629+15C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|8/16|n.613+15C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|9/16|c.679+15C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|9/16|c.679+15C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|9/17|c.592+15C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000334363|protein_coding|9/11|c.682+15C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000491939|processed_transcript|9/11|n.672+15C>T|||||| 22 19898877 . C A . . ANN=A|downstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000496729|retained_intron||n.*910G>T|||||3546|,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|8/17|c.662+23G>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|8/17|c.572+23G>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|3/12|n.736+23G>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|7/16|n.609+23G>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|7/16|n.593+23G>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|8/16|c.659+23G>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|8/16|c.659+23G>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|8/17|c.572+23G>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000334363|protein_coding|8/11|c.662+23G>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000491939|processed_transcript|8/11|n.652+23G>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000484672|processed_transcript|4/4|n.292+23G>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000471835|retained_intron|3/3|n.230G>T|||||| 22 19898886 . C T . . ANN=T|downstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000496729|retained_intron||n.*910G>A|||||3537|,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|8/17|c.662+14G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|8/17|c.572+14G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|3/12|n.736+14G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|7/16|n.609+14G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|7/16|n.593+14G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|8/16|c.659+14G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|8/16|c.659+14G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|8/17|c.572+14G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000334363|protein_coding|8/11|c.662+14G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000491939|processed_transcript|8/11|n.652+14G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000484672|processed_transcript|4/4|n.292+14G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000471835|retained_intron|3/3|n.221G>A|||||| 22 19898887 . G A . . ANN=A|downstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000496729|retained_intron||n.*910C>T|||||3536|,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|8/17|c.662+13C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|8/17|c.572+13C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|3/12|n.736+13C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|7/16|n.609+13C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|7/16|n.593+13C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|8/16|c.659+13C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|8/16|c.659+13C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|8/17|c.572+13C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000334363|protein_coding|8/11|c.662+13C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000491939|processed_transcript|8/11|n.652+13C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000484672|processed_transcript|4/4|n.292+13C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000471835|retained_intron|3/3|n.220C>T|||||| 22 19898912 . G T . . ANN=T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|8/18|c.650C>A|p.Ser217Tyr|657/1933|650/1575|217/524||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|8/18|c.560C>A|p.Ser187Tyr|744/2025|560/1485|187/494||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|8/17|c.647C>A|p.Ser216Tyr|647/3130|647/1572|216/523||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|8/17|c.647C>A|p.Ser216Tyr|647/3130|647/1566|216/521||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|8/18|c.560C>A|p.Ser187Tyr|619/1814|560/1479|187/492||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000334363|protein_coding|8/12|c.650C>A|p.Ser217Tyr|651/1893|650/1017|217/338||,T|downstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000496729|retained_intron||n.*910C>A|||||3511|,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|3/13|n.724C>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|7/17|n.597C>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|7/17|n.581C>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000491939|processed_transcript|8/12|n.640C>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000484672|processed_transcript|4/5|n.280C>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000471835|retained_intron|3/3|n.195C>A|||||| 22 19898997 . A G . . ANN=G|downstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000496729|retained_intron||n.*910T>C|||||3426|,G|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|7/17|c.592-27T>C||||||,G|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|7/17|c.502-27T>C||||||,G|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|2/12|n.666-27T>C||||||,G|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|6/16|n.539-27T>C||||||,G|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|6/16|n.523-27T>C||||||,G|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|7/16|c.589-27T>C||||||,G|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|7/16|c.589-27T>C||||||,G|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|7/17|c.502-27T>C||||||,G|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000334363|protein_coding|7/11|c.592-27T>C||||||,G|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000491939|processed_transcript|7/11|n.582-27T>C||||||,G|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000484672|processed_transcript|3/4|n.222-27T>C||||||,G|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000471835|retained_intron|2/2|n.137-27T>C|||||| 22 19902718 . AT A . . ANN=|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|7/17|c.591+18delA||||||,|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|7/17|c.501+18delA||||||,|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|2/12|n.665+18delA||||||,|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|6/16|n.538+18delA||||||,|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|6/16|n.522+18delA||||||,|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|7/16|c.588+18delA||||||,|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|7/16|c.588+18delA||||||,|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|7/17|c.501+18delA||||||,|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000334363|protein_coding|7/11|c.591+18delA||||||,|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000491939|processed_transcript|7/11|n.581+18delA||||||,|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000484672|processed_transcript|3/4|n.221+18delA||||||,|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000471835|retained_intron|2/2|n.136+18delA||||||,|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000496729|retained_intron|7/7|n.614delA|||||| 22 19902805 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|6/17|c.529-6C>T||||||,A|splice_region_variant&intron_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|6/17|c.439-6C>T||||||,A|splice_region_variant&intron_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|1/12|n.603-6C>T||||||,A|splice_region_variant&intron_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|5/16|n.476-6C>T||||||,A|splice_region_variant&intron_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|5/16|n.460-6C>T||||||,A|splice_region_variant&intron_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|6/16|c.526-6C>T||||||,A|splice_region_variant&intron_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|6/16|c.526-6C>T||||||,A|splice_region_variant&intron_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|6/17|c.439-6C>T||||||,A|splice_region_variant&intron_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000334363|protein_coding|6/11|c.529-6C>T||||||,A|splice_region_variant&intron_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000491939|processed_transcript|6/11|n.519-6C>T||||||,A|splice_region_variant&intron_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000484672|processed_transcript|2/4|n.159-6C>T||||||,A|splice_region_variant&intron_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000471835|retained_intron|1/2|n.74-6C>T||||||,A|splice_region_variant&intron_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000496729|retained_intron|6/6|n.534-6C>T|||||| 22 19902833 . A C . . ANN=C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|6/17|c.529-34T>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|6/17|c.439-34T>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|1/12|n.603-34T>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|5/16|n.476-34T>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|5/16|n.460-34T>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|6/16|c.526-34T>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|6/16|c.526-34T>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|6/17|c.439-34T>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000334363|protein_coding|6/11|c.529-34T>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000491939|processed_transcript|6/11|n.519-34T>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000484672|processed_transcript|2/4|n.159-34T>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000471835|retained_intron|1/2|n.74-34T>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000496729|retained_intron|6/6|n.534-34T>G|||||| 22 19902840 . T C . . ANN=C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|6/17|c.529-41A>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|6/17|c.439-41A>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|1/12|n.603-41A>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|5/16|n.476-41A>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|5/16|n.460-41A>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|6/16|c.526-41A>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|6/16|c.526-41A>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|6/17|c.439-41A>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000334363|protein_coding|6/11|c.529-41A>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000491939|processed_transcript|6/11|n.519-41A>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000484672|processed_transcript|2/4|n.159-41A>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000471835|retained_intron|1/2|n.74-41A>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000496729|retained_intron|6/6|n.534-41A>G|||||| 22 19903267 . G A . . ANN=A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|6/17|c.528+21C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|6/17|c.438+21C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|1/12|n.602+21C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|5/16|n.475+21C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|5/16|n.459+21C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|6/16|c.525+21C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|6/16|c.525+21C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|6/17|c.438+21C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000334363|protein_coding|6/11|c.528+21C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000491939|processed_transcript|6/11|n.518+21C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000484672|processed_transcript|2/4|n.158+21C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000471835|retained_intron|1/2|n.73+21C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000496729|retained_intron|6/6|n.533+21C>T|||||| 22 19903290 . C G . . ANN=G|missense_variant&splice_region_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|6/18|c.526G>C|p.Glu176Gln|533/1933|526/1575|176/524||,G|missense_variant&splice_region_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|6/18|c.436G>C|p.Glu146Gln|620/2025|436/1485|146/494||,G|missense_variant&splice_region_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|6/17|c.523G>C|p.Glu175Gln|523/3130|523/1572|175/523||,G|missense_variant&splice_region_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|6/17|c.523G>C|p.Glu175Gln|523/3130|523/1566|175/521||,G|missense_variant&splice_region_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|6/18|c.436G>C|p.Glu146Gln|495/1814|436/1479|146/492||,G|missense_variant&splice_region_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000334363|protein_coding|6/12|c.526G>C|p.Glu176Gln|527/1893|526/1017|176/338||,G|splice_region_variant&non_coding_exon_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|1/13|n.600G>C||||||,G|splice_region_variant&non_coding_exon_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|5/17|n.473G>C||||||,G|splice_region_variant&non_coding_exon_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|5/17|n.457G>C||||||,G|splice_region_variant&non_coding_exon_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000491939|processed_transcript|6/12|n.516G>C||||||,G|splice_region_variant&non_coding_exon_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000484672|processed_transcript|2/5|n.156G>C||||||,G|splice_region_variant&non_coding_exon_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000471835|retained_intron|1/3|n.71G>C||||||,G|splice_region_variant&non_coding_exon_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000496729|retained_intron|6/7|n.531G>C|||||| 22 19903311 . C T . . ANN=T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|6/18|c.505G>A|p.Gly169Ser|512/1933|505/1575|169/524||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|6/18|c.415G>A|p.Gly139Ser|599/2025|415/1485|139/494||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|6/17|c.502G>A|p.Gly168Ser|502/3130|502/1572|168/523||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|6/17|c.502G>A|p.Gly168Ser|502/3130|502/1566|168/521||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|6/18|c.415G>A|p.Gly139Ser|474/1814|415/1479|139/492||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000334363|protein_coding|6/12|c.505G>A|p.Gly169Ser|506/1893|505/1017|169/338||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|1/13|n.579G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|5/17|n.452G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|5/17|n.436G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000491939|processed_transcript|6/12|n.495G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000484672|processed_transcript|2/5|n.135G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000471835|retained_intron|1/3|n.50G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000496729|retained_intron|6/7|n.510G>A|||||| 22 19903354 . G A . . ANN=A|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|6/18|c.462C>T|p.Tyr154Tyr|469/1933|462/1575|154/524||,A|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|6/18|c.372C>T|p.Tyr124Tyr|556/2025|372/1485|124/494||,A|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|6/17|c.459C>T|p.Tyr153Tyr|459/3130|459/1572|153/523||,A|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|6/17|c.459C>T|p.Tyr153Tyr|459/3130|459/1566|153/521||,A|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|6/18|c.372C>T|p.Tyr124Tyr|431/1814|372/1479|124/492||,A|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000334363|protein_coding|6/12|c.462C>T|p.Tyr154Tyr|463/1893|462/1017|154/338||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|1/13|n.536C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|5/17|n.409C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|5/17|n.393C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000491939|processed_transcript|6/12|n.452C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000484672|processed_transcript|2/5|n.92C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000471835|retained_intron|1/3|n.7C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000496729|retained_intron|6/7|n.467C>T|||||| 22 19905710 . G C . . ANN=C|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|5/18|c.405C>G|p.His135Gln|412/1933|405/1575|135/524||,C|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|5/18|c.315C>G|p.His105Gln|499/2025|315/1485|105/494||,C|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|5/17|c.402C>G|p.His134Gln|402/3130|402/1572|134/523||,C|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|5/17|c.402C>G|p.His134Gln|402/3130|402/1566|134/521||,C|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|5/18|c.315C>G|p.His105Gln|374/1814|315/1479|105/492||,C|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000334363|protein_coding|5/12|c.405C>G|p.His135Gln|406/1893|405/1017|135/338||,C|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron||n.-1C>G|||||1821|,C|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000471835|retained_intron||n.-1C>G|||||2350|,C|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|4/17|n.352C>G||||||,C|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|4/17|n.336C>G||||||,C|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000491939|processed_transcript|5/12|n.395C>G||||||,C|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000484672|processed_transcript|1/5|n.35C>G||||||,C|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000496729|retained_intron|5/7|n.410C>G|||||| 22 19905748 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|4/17|c.375-8C>T||||||,A|splice_region_variant&intron_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|4/17|c.285-8C>T||||||,A|splice_region_variant&intron_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|3/16|n.322-8C>T||||||,A|splice_region_variant&intron_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|3/16|n.306-8C>T||||||,A|splice_region_variant&intron_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|4/16|c.372-8C>T||||||,A|splice_region_variant&intron_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|4/16|c.372-8C>T||||||,A|splice_region_variant&intron_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|4/17|c.285-8C>T||||||,A|splice_region_variant&intron_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000334363|protein_coding|4/11|c.375-8C>T||||||,A|splice_region_variant&intron_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000491939|processed_transcript|4/11|n.365-8C>T||||||,A|splice_region_variant&intron_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000496729|retained_intron|4/6|n.380-8C>T||||||,A|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron||n.-1C>T|||||1859|,A|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000484672|processed_transcript||n.-1C>T|||||4|,A|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000471835|retained_intron||n.-1C>T|||||2388| 22 19905759 . A C . . ANN=C|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron||n.-1T>G|||||1870|,C|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000484672|processed_transcript||n.-1T>G|||||15|,C|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000471835|retained_intron||n.-1T>G|||||2399|,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|4/17|c.375-19T>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|4/17|c.285-19T>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|3/16|n.322-19T>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|3/16|n.306-19T>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|4/16|c.372-19T>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|4/16|c.372-19T>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|4/17|c.285-19T>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000334363|protein_coding|4/11|c.375-19T>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000491939|processed_transcript|4/11|n.365-19T>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000496729|retained_intron|4/6|n.380-19T>G|||||| 22 19905781 . G C . . ANN=C|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron||n.-1C>G|||||1892|,C|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000484672|processed_transcript||n.-1C>G|||||37|,C|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000471835|retained_intron||n.-1C>G|||||2421|,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|4/17|c.375-41C>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|4/17|c.285-41C>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|3/16|n.322-41C>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|3/16|n.306-41C>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|4/16|c.372-41C>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|4/16|c.372-41C>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|4/17|c.285-41C>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000334363|protein_coding|4/11|c.375-41C>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000491939|processed_transcript|4/11|n.365-41C>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000496729|retained_intron|4/6|n.380-41C>G|||||| 22 19906366 . C T . . ANN=T|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron||n.-1G>A|||||2477|,T|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000484672|processed_transcript||n.-1G>A|||||622|,T|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000471835|retained_intron||n.-1G>A|||||3006|,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|4/17|c.374+17G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|4/17|c.284+17G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|3/16|n.321+17G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|3/16|n.305+17G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|4/16|c.371+17G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|4/16|c.371+17G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|4/17|c.284+17G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000334363|protein_coding|4/11|c.374+17G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000491939|processed_transcript|4/11|n.364+17G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000496729|retained_intron|4/6|n.379+17G>A|||||| 22 19906367 . G T . . ANN=T|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron||n.-1C>A|||||2478|,T|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000484672|processed_transcript||n.-1C>A|||||623|,T|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000471835|retained_intron||n.-1C>A|||||3007|,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|4/17|c.374+16C>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|4/17|c.284+16C>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|3/16|n.321+16C>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|3/16|n.305+16C>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|4/16|c.371+16C>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|4/16|c.371+16C>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|4/17|c.284+16C>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000334363|protein_coding|4/11|c.374+16C>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000491939|processed_transcript|4/11|n.364+16C>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000496729|retained_intron|4/6|n.379+16C>A|||||| 22 19906370 . G A . . ANN=A|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron||n.-1C>T|||||2481|,A|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000484672|processed_transcript||n.-1C>T|||||626|,A|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000471835|retained_intron||n.-1C>T|||||3010|,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|4/17|c.374+13C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|4/17|c.284+13C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|3/16|n.321+13C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|3/16|n.305+13C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|4/16|c.371+13C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|4/16|c.371+13C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|4/17|c.284+13C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000334363|protein_coding|4/11|c.374+13C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000491939|processed_transcript|4/11|n.364+13C>T||||||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000496729|retained_intron|4/6|n.379+13C>T|||||| 22 19906391 . C T . . ANN=T|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|4/18|c.366G>A|p.Pro122Pro|373/1933|366/1575|122/524||,T|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|4/18|c.276G>A|p.Pro92Pro|460/2025|276/1485|92/494||,T|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|4/17|c.363G>A|p.Pro121Pro|363/3130|363/1572|121/523||,T|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|4/17|c.363G>A|p.Pro121Pro|363/3130|363/1566|121/521||,T|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|4/18|c.276G>A|p.Pro92Pro|335/1814|276/1479|92/492||,T|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000334363|protein_coding|4/12|c.366G>A|p.Pro122Pro|367/1893|366/1017|122/338||,T|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron||n.-1G>A|||||2502|,T|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000484672|processed_transcript||n.-1G>A|||||647|,T|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000471835|retained_intron||n.-1G>A|||||3031|,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|3/17|n.313G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|3/17|n.297G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000491939|processed_transcript|4/12|n.356G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000496729|retained_intron|4/7|n.371G>A|||||| 22 19906454 . T C . . ANN=C|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|4/18|c.303A>G|p.Ala101Ala|310/1933|303/1575|101/524||,C|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|4/18|c.213A>G|p.Ala71Ala|397/2025|213/1485|71/494||,C|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|4/17|c.300A>G|p.Ala100Ala|300/3130|300/1572|100/523||,C|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|4/17|c.300A>G|p.Ala100Ala|300/3130|300/1566|100/521||,C|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|4/18|c.213A>G|p.Ala71Ala|272/1814|213/1479|71/492||,C|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000334363|protein_coding|4/12|c.303A>G|p.Ala101Ala|304/1893|303/1017|101/338||,C|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron||n.-1A>G|||||2565|,C|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000484672|processed_transcript||n.-1A>G|||||710|,C|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000471835|retained_intron||n.-1A>G|||||3094|,C|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|3/17|n.250A>G||||||,C|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|3/17|n.234A>G||||||,C|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000491939|processed_transcript|4/12|n.293A>G||||||,C|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000496729|retained_intron|4/7|n.308A>G|||||| 22 19906498 . C T . . ANN=T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|4/18|c.259G>A|p.Val87Ile|266/1933|259/1575|87/524||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|4/18|c.169G>A|p.Val57Ile|353/2025|169/1485|57/494||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|4/17|c.256G>A|p.Val86Ile|256/3130|256/1572|86/523||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|4/17|c.256G>A|p.Val86Ile|256/3130|256/1566|86/521||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|4/18|c.169G>A|p.Val57Ile|228/1814|169/1479|57/492||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000334363|protein_coding|4/12|c.259G>A|p.Val87Ile|260/1893|259/1017|87/338||,T|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron||n.-1G>A|||||2609|,T|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000484672|processed_transcript||n.-1G>A|||||754|,T|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000471835|retained_intron||n.-1G>A|||||3138|,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|3/17|n.206G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|3/17|n.190G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000491939|processed_transcript|4/12|n.249G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000496729|retained_intron|4/7|n.264G>A|||||| 22 19906511 . G A . . ANN=A|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|4/18|c.246C>T|p.Leu82Leu|253/1933|246/1575|82/524||,A|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|4/18|c.156C>T|p.Leu52Leu|340/2025|156/1485|52/494||,A|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|4/17|c.243C>T|p.Leu81Leu|243/3130|243/1572|81/523||,A|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|4/17|c.243C>T|p.Leu81Leu|243/3130|243/1566|81/521||,A|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|4/18|c.156C>T|p.Leu52Leu|215/1814|156/1479|52/492||,A|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000334363|protein_coding|4/12|c.246C>T|p.Leu82Leu|247/1893|246/1017|82/338||,A|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron||n.-1C>T|||||2622|,A|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000484672|processed_transcript||n.-1C>T|||||767|,A|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000471835|retained_intron||n.-1C>T|||||3151|,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|3/17|n.193C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|3/17|n.177C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000491939|processed_transcript|4/12|n.236C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000496729|retained_intron|4/7|n.251C>T|||||| 22 19907042 . C T . . ANN=T|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron||n.-1G>A|||||3153|,T|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000484672|processed_transcript||n.-1G>A|||||1298|,T|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000471835|retained_intron||n.-1G>A|||||3682|,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|3/17|c.229+24G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|3/17|c.139+24G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|2/16|n.177-515G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|2/16|n.160+24G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|3/16|c.226+24G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|3/16|c.226+24G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|3/17|c.139+24G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000334363|protein_coding|3/11|c.229+24G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000491939|processed_transcript|3/11|n.219+24G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000496729|retained_intron|3/6|n.234+24G>A|||||| 22 19907085 . G A . . ANN=A|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|3/18|c.210C>T|p.Tyr70Tyr|217/1933|210/1575|70/524||,A|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|3/18|c.120C>T|p.Tyr40Tyr|304/2025|120/1485|40/494||,A|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|3/17|c.207C>T|p.Tyr69Tyr|207/3130|207/1572|69/523||,A|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|3/17|c.207C>T|p.Tyr69Tyr|207/3130|207/1566|69/521||,A|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|3/18|c.120C>T|p.Tyr40Tyr|179/1814|120/1479|40/492||,A|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000334363|protein_coding|3/12|c.210C>T|p.Tyr70Tyr|211/1893|210/1017|70/338||,A|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron||n.-1C>T|||||3196|,A|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000484672|processed_transcript||n.-1C>T|||||1341|,A|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000471835|retained_intron||n.-1C>T|||||3725|,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|2/16|n.177-558C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|2/17|n.141C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000491939|processed_transcript|3/12|n.200C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000496729|retained_intron|3/7|n.215C>T|||||| 22 19907099 . C A . . ANN=A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|3/18|c.196G>T|p.Ala66Ser|203/1933|196/1575|66/524||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|3/18|c.106G>T|p.Ala36Ser|290/2025|106/1485|36/494||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|3/17|c.193G>T|p.Ala65Ser|193/3130|193/1572|65/523||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|3/17|c.193G>T|p.Ala65Ser|193/3130|193/1566|65/521||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|3/18|c.106G>T|p.Ala36Ser|165/1814|106/1479|36/492||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000334363|protein_coding|3/12|c.196G>T|p.Ala66Ser|197/1893|196/1017|66/338||,A|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron||n.-1G>T|||||3210|,A|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000484672|processed_transcript||n.-1G>T|||||1355|,A|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000471835|retained_intron||n.-1G>T|||||3739|,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|2/16|n.177-572G>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|2/17|n.127G>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000491939|processed_transcript|3/12|n.186G>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000496729|retained_intron|3/7|n.201G>T|||||| 22 19907118 . G A . . ANN=A|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|3/18|c.177C>T|p.Ala59Ala|184/1933|177/1575|59/524||,A|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|3/18|c.87C>T|p.Ala29Ala|271/2025|87/1485|29/494||,A|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|3/17|c.174C>T|p.Ala58Ala|174/3130|174/1572|58/523||,A|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|3/17|c.174C>T|p.Ala58Ala|174/3130|174/1566|58/521||,A|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|3/18|c.87C>T|p.Ala29Ala|146/1814|87/1479|29/492||,A|synonymous_variant|LOW|TXNRD2|ENSG00000184470|transcript|ENST00000334363|protein_coding|3/12|c.177C>T|p.Ala59Ala|178/1893|177/1017|59/338||,A|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron||n.-1C>T|||||3229|,A|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000484672|processed_transcript||n.-1C>T|||||1374|,A|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000471835|retained_intron||n.-1C>T|||||3758|,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|2/16|n.177-591C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|2/17|n.108C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000491939|processed_transcript|3/12|n.167C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000496729|retained_intron|3/7|n.182C>T|||||| 22 19918615 . T A . . ANN=A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|2/18|c.110A>T|p.Gln37Leu|117/1933|110/1575|37/524||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|2/18|c.20A>T|p.Gln7Leu|204/2025|20/1485|7/494||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|2/17|c.107A>T|p.Gln36Leu|107/3130|107/1572|36/523||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|2/17|c.107A>T|p.Gln36Leu|107/3130|107/1566|36/521||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|2/18|c.20A>T|p.Gln7Leu|79/1814|20/1479|7/492||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000334363|protein_coding|2/12|c.110A>T|p.Gln37Leu|111/1893|110/1017|37/338||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|1/16|n.103+10609A>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|2/17|n.114A>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000491939|processed_transcript|2/12|n.100A>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000496729|retained_intron|2/7|n.115A>T|||||| 22 19918633 . G C . . ANN=C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|1/17|c.104-12C>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|1/17|c.14-12C>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|1/16|n.108-12C>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|1/16|n.103+10591C>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|1/16|c.104-15C>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|1/16|c.104-15C>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|1/17|c.14-12C>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000334363|protein_coding|1/11|c.104-12C>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000491939|processed_transcript|1/11|n.94-12C>G||||||,C|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000496729|retained_intron|1/6|n.109-12C>G|||||| 22 19918647 . C T . . ANN=T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|1/17|c.104-26G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|1/17|c.14-26G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|1/16|n.108-26G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|1/16|n.103+10577G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|1/16|c.104-29G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|1/16|c.104-29G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|1/17|c.14-26G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000334363|protein_coding|1/11|c.104-26G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000491939|processed_transcript|1/11|n.94-26G>A||||||,T|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000496729|retained_intron|1/6|n.109-26G>A|||||| 22 19950040 . C T . . ANN=T|5_prime_UTR_premature_start_codon_gain_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding|3/6|c.-10C>T||||||,T|5_prime_UTR_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding|3/6|c.-10C>T|||||10|,T|upstream_gene_variant|MODIFIER|MIR4761|ENSG00000265087|transcript|ENST00000585066|miRNA||n.-1C>T|||||1236|,T|upstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.-131C>T|||||30|,T|upstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000493893|processed_transcript||n.-1C>T|||||828|,T|upstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.-2C>T|||||1182|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding|2/5|c.1-10C>T||||||,T|intron_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403184|protein_coding|2/4|c.1-10C>T||||||,T|intron_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding|3/6|c.-150-10C>T||||||,T|intron_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000467943|retained_intron|2/2|n.197-10C>T||||||,T|intron_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding|2/5|c.1-10C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay|2/5|n.1-10C>T||||||,T|intron_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding|2/5|c.1-10C>T|||||| 22 19950137 . G A . . ANN=A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding|3/6|c.88G>A|p.Gly30Ser|470/2437|88/816|30/271||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000403184|protein_coding|3/5|c.88G>A|p.Gly30Ser|344/2217|88/708|30/235||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding|3/6|c.88G>A|p.Gly30Ser|598/1548|88/816|30/271||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding|3/6|c.88G>A|p.Gly30Ser|290/871|88/669|30/222||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding|3/6|c.88G>A|p.Gly30Ser|331/1339|88/816|30/271||,A|5_prime_UTR_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding|4/7|c.-63G>A|||||63|,A|5_prime_UTR_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding|1/4|c.-63G>A|||||63|,A|upstream_gene_variant|MODIFIER|MIR4761|ENSG00000265087|transcript|ENST00000585066|miRNA||n.-1G>A|||||1139|,A|upstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000493893|processed_transcript||n.-1G>A|||||731|,A|upstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.-2G>A|||||1085|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000467943|retained_intron|3/3|n.284G>A||||||,A|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay|3/6|n.88G>A|||||| 22 19950166 . C T . . ANN=T|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding|3/6|c.117C>T|p.Asn39Asn|499/2437|117/816|39/271||,T|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000403184|protein_coding|3/5|c.117C>T|p.Asn39Asn|373/2217|117/708|39/235||,T|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding|3/6|c.117C>T|p.Asn39Asn|627/1548|117/816|39/271||,T|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding|3/6|c.117C>T|p.Asn39Asn|319/871|117/669|39/222||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding|3/6|c.117C>T|p.Asn39Asn|360/1339|117/816|39/271||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding|4/7|c.-34C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding|1/4|c.-34C>T||||||,T|5_prime_UTR_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding|4/7|c.-34C>T|||||34|,T|5_prime_UTR_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding|1/4|c.-34C>T|||||34|,T|upstream_gene_variant|MODIFIER|MIR4761|ENSG00000265087|transcript|ENST00000585066|miRNA||n.-1C>T|||||1110|,T|upstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000493893|processed_transcript||n.-1C>T|||||702|,T|upstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.-2C>T|||||1056|WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000467943|retained_intron|3/3|n.313C>T||||||,T|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay|3/6|n.117C>T|||||| 22 19950235 . C T . . ANN=T|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding|3/6|c.186C>T|p.His62His|568/2437|186/816|62/271||,T|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000403184|protein_coding|3/5|c.186C>T|p.His62His|442/2217|186/708|62/235||,T|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding|3/6|c.186C>T|p.His62His|696/1548|186/816|62/271||,T|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding|4/7|c.36C>T|p.His12His|565/1457|36/666|12/221||,T|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding|3/6|c.186C>T|p.His62His|388/871|186/669|62/222||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding|3/6|c.186C>T|p.His62His|429/1339|186/816|62/271||,T|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding|1/4|c.36C>T|p.His12His|166/2035|36/666|12/221||,T|TF_binding_site_variant|LOW|||Cmyc|MA0147.1|||||||||,T|TF_binding_site_variant|LOW|||Cmyc|MA0059.1|||||||||,T|sequence_feature|LOW|COMT|ENSG00000093010|helix|ENST00000406520|protein_coding|3/6|c.186C>T||||||,T|upstream_gene_variant|MODIFIER|MIR4761|ENSG00000265087|transcript|ENST00000585066|miRNA||n.-1C>T|||||1041|,T|upstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000493893|processed_transcript||n.-1C>T|||||633|,T|upstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.-2C>T|||||987|WARNING_TRANSCRIPT_NO_START_CODON,T|TF_binding_site_variant|MODIFIER|||Cmyc|MA0059.1|||||||||,T|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000467943|retained_intron|3/3|n.382C>T||||||,T|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay|3/6|n.186C>T|||||| 22 19950257 . G A . . ANN=A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding|3/6|c.208G>A|p.Gly70Arg|590/2437|208/816|70/271||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000403184|protein_coding|3/5|c.208G>A|p.Gly70Arg|464/2217|208/708|70/235||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding|3/6|c.208G>A|p.Gly70Arg|718/1548|208/816|70/271||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding|4/7|c.58G>A|p.Gly20Arg|587/1457|58/666|20/221||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding|3/6|c.208G>A|p.Gly70Arg|410/871|208/669|70/222||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding|3/6|c.208G>A|p.Gly70Arg|451/1339|208/816|70/271||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding|1/4|c.58G>A|p.Gly20Arg|188/2035|58/666|20/221||,A|upstream_gene_variant|MODIFIER|MIR4761|ENSG00000265087|transcript|ENST00000585066|miRNA||n.-1G>A|||||1019|,A|upstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000493893|processed_transcript||n.-1G>A|||||611|,A|upstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.-2G>A|||||965|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000467943|retained_intron|3/3|n.404G>A||||||,A|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay|3/6|n.208G>A|||||| 22 19950263 . G T . . ANN=T|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding|3/6|c.214G>T|p.Ala72Ser|596/2437|214/816|72/271||,T|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000403184|protein_coding|3/5|c.214G>T|p.Ala72Ser|470/2217|214/708|72/235||,T|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding|3/6|c.214G>T|p.Ala72Ser|724/1548|214/816|72/271||,T|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding|4/7|c.64G>T|p.Ala22Ser|593/1457|64/666|22/221||,T|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding|3/6|c.214G>T|p.Ala72Ser|416/871|214/669|72/222||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding|3/6|c.214G>T|p.Ala72Ser|457/1339|214/816|72/271||,T|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding|1/4|c.64G>T|p.Ala22Ser|194/2035|64/666|22/221||,T|sequence_feature|LOW|COMT|ENSG00000093010|helix|ENST00000406520|protein_coding|3/6|c.214G>T||||||,T|upstream_gene_variant|MODIFIER|MIR4761|ENSG00000265087|transcript|ENST00000585066|miRNA||n.-1G>T|||||1013|,T|upstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000493893|processed_transcript||n.-1G>T|||||605|,T|upstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.-2G>T|||||959|WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000467943|retained_intron|3/3|n.410G>T||||||,T|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay|3/6|n.214G>T|||||| 22 19950268 . G A . . ANN=A|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding|3/6|c.219G>A|p.Gln73Gln|601/2437|219/816|73/271||,A|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000403184|protein_coding|3/5|c.219G>A|p.Gln73Gln|475/2217|219/708|73/235||,A|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding|3/6|c.219G>A|p.Gln73Gln|729/1548|219/816|73/271||,A|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding|4/7|c.69G>A|p.Gln23Gln|598/1457|69/666|23/221||,A|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding|3/6|c.219G>A|p.Gln73Gln|421/871|219/669|73/222||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding|3/6|c.219G>A|p.Gln73Gln|462/1339|219/816|73/271||,A|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding|1/4|c.69G>A|p.Gln23Gln|199/2035|69/666|23/221||,A|sequence_feature|LOW|COMT|ENSG00000093010|helix|ENST00000406520|protein_coding|3/6|c.219G>A||||||,A|upstream_gene_variant|MODIFIER|MIR4761|ENSG00000265087|transcript|ENST00000585066|miRNA||n.-1G>A|||||1008|,A|upstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000493893|processed_transcript||n.-1G>A|||||600|,A|upstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.-2G>A|||||954|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000467943|retained_intron|3/3|n.415G>A||||||,A|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay|3/6|n.219G>A|||||| 22 19950299 . G A . . ANN=A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding|3/6|c.250G>A|p.Glu84Lys|632/2437|250/816|84/271||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000403184|protein_coding|3/5|c.250G>A|p.Glu84Lys|506/2217|250/708|84/235||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding|3/6|c.250G>A|p.Glu84Lys|760/1548|250/816|84/271||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding|4/7|c.100G>A|p.Glu34Lys|629/1457|100/666|34/221||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding|3/6|c.250G>A|p.Glu84Lys|452/871|250/669|84/222||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding|3/6|c.250G>A|p.Glu84Lys|493/1339|250/816|84/271||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding|1/4|c.100G>A|p.Glu34Lys|230/2035|100/666|34/221||,A|sequence_feature|LOW|COMT|ENSG00000093010|helix|ENST00000406520|protein_coding|3/6|c.250G>A||||||,A|upstream_gene_variant|MODIFIER|MIR4761|ENSG00000265087|transcript|ENST00000585066|miRNA||n.-1G>A|||||977|,A|upstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000493893|processed_transcript||n.-1G>A|||||569|,A|upstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.-2G>A|||||923|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000467943|retained_intron|3/3|n.446G>A||||||,A|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay|3/6|n.250G>A|||||| 22 19950310 . G A . . ANN=A|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding|3/6|c.261G>A|p.Glu87Glu|643/2437|261/816|87/271||,A|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000403184|protein_coding|3/5|c.261G>A|p.Glu87Glu|517/2217|261/708|87/235||,A|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding|3/6|c.261G>A|p.Glu87Glu|771/1548|261/816|87/271||,A|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding|4/7|c.111G>A|p.Glu37Glu|640/1457|111/666|37/221||,A|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding|3/6|c.261G>A|p.Glu87Glu|463/871|261/669|87/222||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding|3/6|c.261G>A|p.Glu87Glu|504/1339|261/816|87/271||,A|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding|1/4|c.111G>A|p.Glu37Glu|241/2035|111/666|37/221||,A|upstream_gene_variant|MODIFIER|MIR4761|ENSG00000265087|transcript|ENST00000585066|miRNA||n.-1G>A|||||966|,A|upstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000493893|processed_transcript||n.-1G>A|||||558|,A|upstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.-2G>A|||||912|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000467943|retained_intron|3/3|n.457G>A||||||,A|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay|3/6|n.261G>A|||||| 22 19950329 . G A . . ANN=A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding|3/6|c.280G>A|p.Asp94Asn|662/2437|280/816|94/271||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000403184|protein_coding|3/5|c.280G>A|p.Asp94Asn|536/2217|280/708|94/235||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding|3/6|c.280G>A|p.Asp94Asn|790/1548|280/816|94/271||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding|4/7|c.130G>A|p.Asp44Asn|659/1457|130/666|44/221||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding|3/6|c.280G>A|p.Asp94Asn|482/871|280/669|94/222||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding|3/6|c.280G>A|p.Asp94Asn|523/1339|280/816|94/271||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding|1/4|c.130G>A|p.Asp44Asn|260/2035|130/666|44/221||,A|sequence_feature|LOW|COMT|ENSG00000093010|helix|ENST00000406520|protein_coding|4/6|c.280G>A||||||,A|sequence_feature|LOW|COMT|ENSG00000093010|helix|ENST00000406520|protein_coding|3/6|c.280G>A||||||,A|upstream_gene_variant|MODIFIER|MIR4761|ENSG00000265087|transcript|ENST00000585066|miRNA||n.-1G>A|||||947|,A|upstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000493893|processed_transcript||n.-1G>A|||||539|,A|upstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.-2G>A|||||893|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000467943|retained_intron|3/3|n.476G>A||||||,A|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay|3/6|n.280G>A|||||| 22 19951103 . G A . . ANN=A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding|4/6|c.304G>A|p.Ala102Thr|686/2437|304/816|102/271||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000403184|protein_coding|4/5|c.304G>A|p.Ala102Thr|560/2217|304/708|102/235||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding|4/6|c.304G>A|p.Ala102Thr|814/1548|304/816|102/271||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding|5/7|c.154G>A|p.Ala52Thr|683/1457|154/666|52/221||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding|4/6|c.304G>A|p.Ala102Thr|506/871|304/669|102/222||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding|4/6|c.304G>A|p.Ala102Thr|547/1339|304/816|102/271||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding|2/4|c.154G>A|p.Ala52Thr|284/2035|154/666|52/221||,A|sequence_feature|LOW|COMT|ENSG00000093010|helix|ENST00000406520|protein_coding|4/6|c.304G>A||||||,A|sequence_feature|LOW|COMT|ENSG00000093010|helix|ENST00000406520|protein_coding|3/6|c.304G>A||||||,A|upstream_gene_variant|MODIFIER|MIR4761|ENSG00000265087|transcript|ENST00000585066|miRNA||n.-1G>A|||||173|,A|upstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.-2G>A|||||119|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000467943|retained_intron||n.*546G>A|||||704|,A|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay|4/6|n.304G>A||||||,A|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000493893|processed_transcript|2/3|n.42G>A|||||| 22 19951116 . A G . . ANN=G|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding|4/6|c.317A>G|p.Glu106Gly|699/2437|317/816|106/271||,G|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000403184|protein_coding|4/5|c.317A>G|p.Glu106Gly|573/2217|317/708|106/235||,G|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding|4/6|c.317A>G|p.Glu106Gly|827/1548|317/816|106/271||,G|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding|5/7|c.167A>G|p.Glu56Gly|696/1457|167/666|56/221||,G|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding|4/6|c.317A>G|p.Glu106Gly|519/871|317/669|106/222||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding|4/6|c.317A>G|p.Glu106Gly|560/1339|317/816|106/271||,G|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding|2/4|c.167A>G|p.Glu56Gly|297/2035|167/666|56/221||,G|sequence_feature|LOW|COMT|ENSG00000093010|helix|ENST00000406520|protein_coding|4/6|c.317A>G||||||,G|sequence_feature|LOW|COMT|ENSG00000093010|helix|ENST00000406520|protein_coding|3/6|c.317A>G||||||,G|upstream_gene_variant|MODIFIER|MIR4761|ENSG00000265087|transcript|ENST00000585066|miRNA||n.-1A>G|||||160|,G|upstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.-2A>G|||||106|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000467943|retained_intron||n.*546A>G|||||717|,G|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay|4/6|n.317A>G||||||,G|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000493893|processed_transcript|2/3|n.55A>G|||||| 22 19951207 . C G . . ANN=G|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding|4/6|c.408C>G|p.Leu136Leu|790/2437|408/816|136/271||,G|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000403184|protein_coding|4/5|c.408C>G|p.Leu136Leu|664/2217|408/708|136/235||,G|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding|4/6|c.408C>G|p.Leu136Leu|918/1548|408/816|136/271||,G|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding|5/7|c.258C>G|p.Leu86Leu|787/1457|258/666|86/221||,G|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding|4/6|c.408C>G|p.Leu136Leu|610/871|408/669|136/222||WARNING_TRANSCRIPT_NO_STOP_CODON,G|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding|4/6|c.408C>G|p.Leu136Leu|651/1339|408/816|136/271||,G|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding|2/4|c.258C>G|p.Leu86Leu|388/2035|258/666|86/221||,G|sequence_feature|LOW|COMT|ENSG00000093010|beta_strand|ENST00000406520|protein_coding|4/6|c.408C>G||||||,G|upstream_gene_variant|MODIFIER|MIR4761|ENSG00000265087|transcript|ENST00000585066|miRNA||n.-1C>G|||||69|,G|upstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.-2C>G|||||15|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000467943|retained_intron||n.*546C>G|||||808|,G|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay|4/6|n.408C>G||||||,G|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000493893|processed_transcript|2/3|n.146C>G|||||| 22 19951220 . A G . . ANN=G|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding|4/6|c.421A>G|p.Ile141Val|803/2437|421/816|141/271||,G|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000403184|protein_coding|4/5|c.421A>G|p.Ile141Val|677/2217|421/708|141/235||,G|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding|4/6|c.421A>G|p.Ile141Val|931/1548|421/816|141/271||,G|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding|5/7|c.271A>G|p.Ile91Val|800/1457|271/666|91/221||,G|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding|4/6|c.421A>G|p.Ile141Val|623/871|421/669|141/222||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding|4/6|c.421A>G|p.Ile141Val|664/1339|421/816|141/271||,G|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding|2/4|c.271A>G|p.Ile91Val|401/2035|271/666|91/221||,G|sequence_feature|LOW|COMT|ENSG00000093010|beta_strand|ENST00000406520|protein_coding|4/6|c.421A>G||||||,G|sequence_feature|LOW|COMT|ENSG00000093010|binding_site:S-adenosyl-L-methionine|ENST00000406520|protein_coding|4/6|c.421A>G||||||,G|upstream_gene_variant|MODIFIER|MIR4761|ENSG00000265087|transcript|ENST00000585066|miRNA||n.-1A>G|||||56|,G|upstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.-2A>G|||||2|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000467943|retained_intron||n.*546A>G|||||821|,G|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay|4/6|n.421A>G||||||,G|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000493893|processed_transcript|2/3|n.159A>G|||||| 22 19951237 . C T . . ANN=T|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding|4/6|c.438C>T|p.Ala146Ala|820/2437|438/816|146/271||,T|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000403184|protein_coding|4/5|c.438C>T|p.Ala146Ala|694/2217|438/708|146/235||,T|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding|4/6|c.438C>T|p.Ala146Ala|948/1548|438/816|146/271||,T|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding|5/7|c.288C>T|p.Ala96Ala|817/1457|288/666|96/221||,T|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding|4/6|c.438C>T|p.Ala146Ala|640/871|438/669|146/222||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding|4/6|c.438C>T|p.Ala146Ala|681/1339|438/816|146/271||,T|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding|2/4|c.288C>T|p.Ala96Ala|418/2035|288/666|96/221||,T|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding|1/3|c.15C>T|p.Ala5Ala|16/724|15/456|5/151||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|COMT|ENSG00000093010|helix|ENST00000406520|protein_coding|4/6|c.438C>T||||||,T|upstream_gene_variant|MODIFIER|MIR4761|ENSG00000265087|transcript|ENST00000585066|miRNA||n.-1C>T|||||39|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000467943|retained_intron||n.*546C>T|||||838|,T|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay|4/6|n.438C>T||||||,T|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000493893|processed_transcript|2/3|n.176C>T|||||| 22 19951247 . C A . . ANN=A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding|4/6|c.448C>A|p.Gln150Lys|830/2437|448/816|150/271||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000403184|protein_coding|4/5|c.448C>A|p.Gln150Lys|704/2217|448/708|150/235||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding|4/6|c.448C>A|p.Gln150Lys|958/1548|448/816|150/271||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding|5/7|c.298C>A|p.Gln100Lys|827/1457|298/666|100/221||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding|4/6|c.448C>A|p.Gln150Lys|650/871|448/669|150/222||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding|4/6|c.448C>A|p.Gln150Lys|691/1339|448/816|150/271||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding|2/4|c.298C>A|p.Gln100Lys|428/2035|298/666|100/221||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding|1/3|c.25C>A|p.Gln9Lys|26/724|25/456|9/151||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|COMT|ENSG00000093010|helix|ENST00000406520|protein_coding|4/6|c.448C>A||||||,A|upstream_gene_variant|MODIFIER|MIR4761|ENSG00000265087|transcript|ENST00000585066|miRNA||n.-1C>A|||||29|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000467943|retained_intron||n.*546C>A|||||848|,A|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay|4/6|n.448C>A||||||,A|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000493893|processed_transcript|2/3|n.186C>A|||||| 22 19951270 . C T . . ANN=T|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding|4/6|c.471C>T|p.Gly157Gly|853/2437|471/816|157/271||,T|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000403184|protein_coding|4/5|c.471C>T|p.Gly157Gly|727/2217|471/708|157/235||,T|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding|4/6|c.471C>T|p.Gly157Gly|981/1548|471/816|157/271||,T|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding|5/7|c.321C>T|p.Gly107Gly|850/1457|321/666|107/221||,T|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding|4/6|c.471C>T|p.Gly157Gly|673/871|471/669|157/222||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding|4/6|c.471C>T|p.Gly157Gly|714/1339|471/816|157/271||,T|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding|2/4|c.321C>T|p.Gly107Gly|451/2035|321/666|107/221||,T|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding|1/3|c.48C>T|p.Gly16Gly|49/724|48/456|16/151||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|MIR4761|ENSG00000265087|transcript|ENST00000585066|miRNA||n.-1C>T|||||6|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000467943|retained_intron||n.*546C>T|||||871|,T|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay|4/6|n.471C>T||||||,T|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000493893|processed_transcript|2/3|n.209C>T|||||| 22 19951271 . G A . . ANN=A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding|4/6|c.472G>A|p.Val158Met|854/2437|472/816|158/271||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000403184|protein_coding|4/5|c.472G>A|p.Val158Met|728/2217|472/708|158/235||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding|4/6|c.472G>A|p.Val158Met|982/1548|472/816|158/271||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding|5/7|c.322G>A|p.Val108Met|851/1457|322/666|108/221||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding|4/6|c.472G>A|p.Val158Met|674/871|472/669|158/222||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding|4/6|c.472G>A|p.Val158Met|715/1339|472/816|158/271||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding|2/4|c.322G>A|p.Val108Met|452/2035|322/666|108/221||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding|1/3|c.49G>A|p.Val17Met|50/724|49/456|17/151||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|MIR4761|ENSG00000265087|transcript|ENST00000585066|miRNA||n.-1G>A|||||5|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000467943|retained_intron||n.*546G>A|||||872|,A|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay|4/6|n.472G>A||||||,A|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000493893|processed_transcript|2/3|n.210G>A|||||| 22 19951710 . C T . . ANN=T|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding|5/6|c.503C>T|p.Ala168Val|885/2437|503/816|168/271||,T|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000403184|protein_coding|5/5|c.503C>T|p.Ala168Val|759/2217|503/708|168/235||,T|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding|5/6|c.503C>T|p.Ala168Val|1013/1548|503/816|168/271||,T|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding|6/7|c.353C>T|p.Ala118Val|882/1457|353/666|118/221||,T|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding|5/6|c.503C>T|p.Ala168Val|705/871|503/669|168/222||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding|5/6|c.503C>T|p.Ala168Val|746/1339|503/816|168/271||,T|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding|3/4|c.353C>T|p.Ala118Val|483/2035|353/666|118/221||,T|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding|2/3|c.80C>T|p.Ala27Val|81/724|80/456|27/151||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|COMT|ENSG00000093010|region_of_interest:S-adenosyl-L-methionine_binding|ENST00000406520|protein_coding|5/6|c.503C>T||||||,T|downstream_gene_variant|MODIFIER|MIR4761|ENSG00000265087|transcript|ENST00000585066|miRNA||n.*82C>T|||||353|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000467943|retained_intron||n.*546C>T|||||1311|,T|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay|5/6|n.561C>T||||||,T|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000493893|processed_transcript|3/3|n.241C>T|||||| 22 19951717 . G A . . ANN=A|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding|5/6|c.510G>A|p.Gln170Gln|892/2437|510/816|170/271||,A|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000403184|protein_coding|5/5|c.510G>A|p.Gln170Gln|766/2217|510/708|170/235||,A|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding|5/6|c.510G>A|p.Gln170Gln|1020/1548|510/816|170/271||,A|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding|6/7|c.360G>A|p.Gln120Gln|889/1457|360/666|120/221||,A|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding|5/6|c.510G>A|p.Gln170Gln|712/871|510/669|170/222||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding|5/6|c.510G>A|p.Gln170Gln|753/1339|510/816|170/271||,A|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding|3/4|c.360G>A|p.Gln120Gln|490/2035|360/666|120/221||,A|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding|2/3|c.87G>A|p.Gln29Gln|88/724|87/456|29/151||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|COMT|ENSG00000093010|region_of_interest:S-adenosyl-L-methionine_binding|ENST00000406520|protein_coding|5/6|c.510G>A||||||,A|sequence_feature|LOW|COMT|ENSG00000093010|helix|ENST00000406520|protein_coding|5/6|c.510G>A||||||,A|downstream_gene_variant|MODIFIER|MIR4761|ENSG00000265087|transcript|ENST00000585066|miRNA||n.*82G>A|||||360|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000467943|retained_intron||n.*546G>A|||||1318|,A|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay|5/6|n.568G>A||||||,A|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000493893|processed_transcript|3/3|n.248G>A|||||| 22 19951804 . G A . . ANN=A|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding|5/6|c.597G>A|p.Pro199Pro|979/2437|597/816|199/271||,A|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000403184|protein_coding|5/5|c.597G>A|p.Pro199Pro|853/2217|597/708|199/235||,A|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding|5/6|c.597G>A|p.Pro199Pro|1107/1548|597/816|199/271||,A|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding|6/7|c.447G>A|p.Pro149Pro|976/1457|447/666|149/221||,A|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding|5/6|c.597G>A|p.Pro199Pro|799/871|597/669|199/222||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding|5/6|c.597G>A|p.Pro199Pro|840/1339|597/816|199/271||,A|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding|3/4|c.447G>A|p.Pro149Pro|577/2035|447/666|149/221||,A|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding|2/3|c.174G>A|p.Pro58Pro|175/724|174/456|58/151||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|COMT|ENSG00000093010|helix|ENST00000406520|protein_coding|6/6|c.597G>A||||||,A|sequence_feature|LOW|COMT|ENSG00000093010|helix|ENST00000406520|protein_coding|5/6|c.597G>A||||||,A|3_prime_UTR_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay|5/6|n.*55G>A|||||55|,A|downstream_gene_variant|MODIFIER|MIR4761|ENSG00000265087|transcript|ENST00000585066|miRNA||n.*82G>A|||||447|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000467943|retained_intron||n.*546G>A|||||1405|,A|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay|5/6|n.*55G>A||||||,A|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000493893|processed_transcript|3/3|n.335G>A|||||| 22 19951816 . C T . . ANN=T|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding|5/6|c.609C>T|p.Leu203Leu|991/2437|609/816|203/271||,T|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000403184|protein_coding|5/5|c.609C>T|p.Leu203Leu|865/2217|609/708|203/235||,T|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding|5/6|c.609C>T|p.Leu203Leu|1119/1548|609/816|203/271||,T|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding|6/7|c.459C>T|p.Leu153Leu|988/1457|459/666|153/221||,T|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding|5/6|c.609C>T|p.Leu203Leu|811/871|609/669|203/222||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding|5/6|c.609C>T|p.Leu203Leu|852/1339|609/816|203/271||,T|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding|3/4|c.459C>T|p.Leu153Leu|589/2035|459/666|153/221||,T|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding|2/3|c.186C>T|p.Leu62Leu|187/724|186/456|62/151||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|COMT|ENSG00000093010|helix|ENST00000406520|protein_coding|6/6|c.609C>T||||||,T|sequence_feature|LOW|COMT|ENSG00000093010|helix|ENST00000406520|protein_coding|5/6|c.609C>T||||||,T|3_prime_UTR_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay|5/6|n.*67C>T|||||67|,T|downstream_gene_variant|MODIFIER|MIR4761|ENSG00000265087|transcript|ENST00000585066|miRNA||n.*82C>T|||||459|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000467943|retained_intron||n.*546C>T|||||1417|,T|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay|5/6|n.*67C>T||||||,T|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000493893|processed_transcript|3/3|n.347C>T|||||| 22 19951869 . CCATT C . . ANN=|frameshift_variant|HIGH|COMT|ENSG00000093010|transcript|ENST00000403184|protein_coding|5/5|c.665_668delTTCA|p.Ile222fs|921/2217|665/708|222/235||INFO_REALIGN_3_PRIME,|sequence_feature|LOW|COMT|ENSG00000093010|helix|ENST00000406520|protein_coding|6/6|c.615+48_615+51delCATT||||||,|sequence_feature|LOW|COMT|ENSG00000093010|helix|ENST00000406520|protein_coding|5/6|c.615+48_615+51delCATT||||||,|downstream_gene_variant|MODIFIER|MIR4761|ENSG00000265087|transcript|ENST00000585066|miRNA||n.*82_*82delCATT|||||513|,|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000467943|retained_intron||n.*546_*546delCATT|||||1471|,|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000493893|processed_transcript||n.*354_*354delCATT|||||47|,|intron_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding|5/5|c.615+50_615+53delTTCA||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding|5/5|c.615+50_615+53delTTCA||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding|6/6|c.465+50_465+53delTTCA||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding|5/5|c.615+50_615+53delTTCA||||||WARNING_TRANSCRIPT_NO_STOP_CODON&INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay|5/5|n.*73+50_*73+53delTTCA||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding|5/5|c.615+50_615+53delTTCA||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding|3/3|c.465+50_465+53delTTCA||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding|2/2|c.192+50_192+53delTTCA||||||WARNING_TRANSCRIPT_NO_START_CODON&INFO_REALIGN_3_PRIME;LOF=(COMT|ENSG00000093010|11|0.09) 22 19956014 . G C . . ANN=C|sequence_feature|LOW|COMT|ENSG00000093010|helix|ENST00000406520|protein_coding|6/6|c.616-45G>C||||||,C|sequence_feature|LOW|COMT|ENSG00000093010|helix|ENST00000406520|protein_coding|5/6|c.616-45G>C||||||,C|downstream_gene_variant|MODIFIER|MIR4761|ENSG00000265087|transcript|ENST00000585066|miRNA||n.*82G>C|||||4657|,C|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding||c.*3181C>G|||||1405|,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403184|protein_coding||c.*964G>C|||||2846|,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000493893|processed_transcript||n.*354G>C|||||4191|,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.*457G>C|||||797|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron||n.*2549C>G|||||1407|,C|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding||c.*2700C>G|||||1407|,C|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding||c.*2700C>G|||||2737|,C|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding||c.*2682C>G|||||2737|,C|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding||c.*2871C>G|||||2737|,C|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551C>G|||||4671|,C|intron_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding|5/5|c.616-45G>C||||||,C|intron_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding|5/5|c.616-45G>C||||||,C|intron_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding|6/6|c.466-45G>C||||||,C|intron_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding|5/5|c.616-45G>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay|5/5|n.*74-45G>C||||||,C|intron_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding|5/5|c.616-45G>C||||||,C|intron_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding|3/3|c.466-45G>C|||||| 22 19956208 . C T . . ANN=T|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding|6/6|c.765C>T|p.Asp255Asp|1147/2437|765/816|255/271||,T|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding|6/6|c.765C>T|p.Asp255Asp|1275/1548|765/816|255/271||,T|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding|7/7|c.615C>T|p.Asp205Asp|1144/1457|615/666|205/221||,T|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding|6/6|c.765C>T|p.Asp255Asp|1008/1339|765/816|255/271||,T|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding|4/4|c.615C>T|p.Asp205Asp|745/2035|615/666|205/221||,T|sequence_feature|LOW|COMT|ENSG00000093010|beta_strand|ENST00000406520|protein_coding|6/6|c.765C>T||||||,T|3_prime_UTR_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay|6/6|n.*223C>T|||||4459|,T|downstream_gene_variant|MODIFIER|MIR4761|ENSG00000265087|transcript|ENST00000585066|miRNA||n.*82C>T|||||4851|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding||c.*3181G>A|||||1211|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403184|protein_coding||c.*964C>T|||||3040|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871C>T|||||96|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000493893|processed_transcript||n.*354C>T|||||4385|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.*457C>T|||||991|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron||n.*2549G>A|||||1213|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding||c.*2700G>A|||||1213|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding||c.*2700G>A|||||2543|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding||c.*2682G>A|||||2543|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding||c.*2871G>A|||||2543|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551G>A|||||4477|,T|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay|6/6|n.*223C>T|||||| 22 19956214 . G A . . ANN=A|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding|6/6|c.771G>A|p.Leu257Leu|1153/2437|771/816|257/271||,A|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding|6/6|c.771G>A|p.Leu257Leu|1281/1548|771/816|257/271||,A|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding|7/7|c.621G>A|p.Leu207Leu|1150/1457|621/666|207/221||,A|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding|6/6|c.771G>A|p.Leu257Leu|1014/1339|771/816|257/271||,A|synonymous_variant|LOW|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding|4/4|c.621G>A|p.Leu207Leu|751/2035|621/666|207/221||,A|sequence_feature|LOW|COMT|ENSG00000093010|beta_strand|ENST00000406520|protein_coding|6/6|c.771G>A||||||,A|3_prime_UTR_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay|6/6|n.*229G>A|||||4465|,A|downstream_gene_variant|MODIFIER|MIR4761|ENSG00000265087|transcript|ENST00000585066|miRNA||n.*82G>A|||||4857|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding||c.*3181C>T|||||1205|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403184|protein_coding||c.*964G>A|||||3046|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871G>A|||||102|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000493893|processed_transcript||n.*354G>A|||||4391|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.*457G>A|||||997|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron||n.*2549C>T|||||1207|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding||c.*2700C>T|||||1207|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding||c.*2700C>T|||||2537|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding||c.*2682C>T|||||2537|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding||c.*2871C>T|||||2537|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551C>T|||||4471|,A|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay|6/6|n.*229G>A|||||| 22 19956221 . G A . . ANN=A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding|6/6|c.778G>A|p.Ala260Thr|1160/2437|778/816|260/271||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding|6/6|c.778G>A|p.Ala260Thr|1288/1548|778/816|260/271||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding|7/7|c.628G>A|p.Ala210Thr|1157/1457|628/666|210/221||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding|6/6|c.778G>A|p.Ala260Thr|1021/1339|778/816|260/271||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding|4/4|c.628G>A|p.Ala210Thr|758/2035|628/666|210/221||,A|sequence_feature|LOW|COMT|ENSG00000093010|beta_strand|ENST00000406520|protein_coding|6/6|c.778G>A||||||,A|3_prime_UTR_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay|6/6|n.*236G>A|||||4472|,A|downstream_gene_variant|MODIFIER|MIR4761|ENSG00000265087|transcript|ENST00000585066|miRNA||n.*82G>A|||||4864|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding||c.*3181C>T|||||1198|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403184|protein_coding||c.*964G>A|||||3053|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871G>A|||||109|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000493893|processed_transcript||n.*354G>A|||||4398|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.*457G>A|||||1004|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron||n.*2549C>T|||||1200|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding||c.*2700C>T|||||1200|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding||c.*2700C>T|||||2530|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding||c.*2682C>T|||||2530|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding||c.*2871C>T|||||2530|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551C>T|||||4464|,A|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay|6/6|n.*236G>A|||||| 22 19956262 . G C . . ANN=C|3_prime_UTR_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding|6/6|c.*3G>C|||||3|,C|3_prime_UTR_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding|6/6|c.*3G>C|||||3|,C|3_prime_UTR_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding|7/7|c.*3G>C|||||3|,C|3_prime_UTR_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay|6/6|n.*277G>C|||||4513|,C|3_prime_UTR_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding|6/6|c.*3G>C|||||3|,C|3_prime_UTR_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding|4/4|c.*3G>C|||||3|,C|downstream_gene_variant|MODIFIER|MIR4761|ENSG00000265087|transcript|ENST00000585066|miRNA||n.*82G>C|||||4905|,C|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding||c.*3181C>G|||||1157|,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403184|protein_coding||c.*964G>C|||||3094|,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871G>C|||||150|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000493893|processed_transcript||n.*354G>C|||||4439|,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.*457G>C|||||1045|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron||n.*2549C>G|||||1159|,C|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding||c.*2700C>G|||||1159|,C|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding||c.*2700C>G|||||2489|,C|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding||c.*2682C>G|||||2489|,C|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding||c.*2871C>G|||||2489|,C|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551C>G|||||4423|,C|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay|6/6|n.*277G>C|||||| 22 19956269 . C CG . . ANN=G|3_prime_UTR_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding|6/6|c.*12dupG|||||13|INFO_REALIGN_3_PRIME,G|3_prime_UTR_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding|6/6|c.*12dupG|||||13|INFO_REALIGN_3_PRIME,G|3_prime_UTR_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding|7/7|c.*12dupG|||||13|INFO_REALIGN_3_PRIME,G|3_prime_UTR_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay|6/6|n.*286dupG|||||4523|INFO_REALIGN_3_PRIME,G|3_prime_UTR_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding|6/6|c.*12dupG|||||13|INFO_REALIGN_3_PRIME,G|3_prime_UTR_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding|4/4|c.*12dupG|||||13|INFO_REALIGN_3_PRIME,G|downstream_gene_variant|MODIFIER|MIR4761|ENSG00000265087|transcript|ENST00000585066|miRNA||n.*82_*82insG|||||4913|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding||c.*3181dupC|||||1149|,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403184|protein_coding||c.*964_*964insG|||||3102|,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871_*871insG|||||158|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000493893|processed_transcript||n.*354_*354insG|||||4447|,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.*457_*457insG|||||1053|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron||n.*2549dupC|||||1151|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding||c.*2700dupC|||||1151|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding||c.*2700dupC|||||2481|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding||c.*2682dupC|||||2481|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding||c.*2871dupC|||||2481|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551dupC|||||4415|,G|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay|6/6|n.*286dupG||||||INFO_REALIGN_3_PRIME 22 19958710 . T A . . ANN=A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198T>A|||||1212|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326T>A|||||2229|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195T>A|||||2189|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871T>A|||||2598|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765T>A|||||2171|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059T>A|||||2171|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796T>A|||||1212|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.*457T>A|||||3493|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding||c.*2700A>T|||||41|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding||c.*2682A>T|||||41|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding||c.*2871A>T|||||41|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551A>T|||||1975|,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|19/19|c.*12+29A>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|11/11|n.1704-444A>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|17/17|c.*12+29A>T|||||| 22 19958719 . A G . . ANN=G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198A>G|||||1221|,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326A>G|||||2238|,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195A>G|||||2198|,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871A>G|||||2607|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765A>G|||||2180|,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059A>G|||||2180|,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796A>G|||||1221|,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.*457A>G|||||3502|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding||c.*2700T>C|||||32|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding||c.*2682T>C|||||32|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding||c.*2871T>C|||||32|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551T>C|||||1966|,G|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|19/19|c.*12+20T>C||||||,G|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|11/11|n.1704-453T>C||||||,G|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|17/17|c.*12+20T>C|||||| 22 19958789 . C T . . ANN=T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|19/20|c.2851G>A|p.Gly951Arg|3143/4041|2851/2889|951/962||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|17/18|c.2662G>A|p.Gly888Arg|2662/3558|2662/2700|888/899||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|17/17|c.2662G>A|p.Gly888Arg|2662/2700|2662/2700|888/899||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|16/16|c.2644G>A|p.Gly882Arg|2644/2682|2644/2682|882/893||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|16/16|c.2833G>A|p.Gly945Arg|2833/2871|2833/2871|945/956||,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198C>T|||||1291|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326C>T|||||2308|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195C>T|||||2268|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871C>T|||||2677|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765C>T|||||2250|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059C>T|||||2250|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796C>T|||||1291|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.*457C>T|||||3572|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551G>A|||||1896|,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|11/11|n.1704-523G>A|||||| 22 19958793 . G C . . ANN=C|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|19/20|c.2847C>G|p.Ala949Ala|3139/4041|2847/2889|949/962||,C|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|17/18|c.2658C>G|p.Ala886Ala|2658/3558|2658/2700|886/899||,C|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|17/17|c.2658C>G|p.Ala886Ala|2658/2700|2658/2700|886/899||,C|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|16/16|c.2640C>G|p.Ala880Ala|2640/2682|2640/2682|880/893||,C|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|16/16|c.2829C>G|p.Ala943Ala|2829/2871|2829/2871|943/956||,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198G>C|||||1295|,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326G>C|||||2312|,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195G>C|||||2272|,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871G>C|||||2681|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765G>C|||||2254|,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059G>C|||||2254|,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796G>C|||||1295|,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.*457G>C|||||3576|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551C>G|||||1892|,C|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|11/11|n.1704-527C>G|||||| 22 19958811 . C T . . ANN=T|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|19/20|c.2829G>A|p.Ala943Ala|3121/4041|2829/2889|943/962||,T|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|17/18|c.2640G>A|p.Ala880Ala|2640/3558|2640/2700|880/899||,T|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|17/17|c.2640G>A|p.Ala880Ala|2640/2700|2640/2700|880/899||,T|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|16/16|c.2622G>A|p.Ala874Ala|2622/2682|2622/2682|874/893||,T|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|16/16|c.2811G>A|p.Ala937Ala|2811/2871|2811/2871|937/956||,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198C>T|||||1313|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326C>T|||||2330|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195C>T|||||2290|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871C>T|||||2699|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765C>T|||||2272|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059C>T|||||2272|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796C>T|||||1313|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.*457C>T|||||3594|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551G>A|||||1874|,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|11/11|n.1704-545G>A|||||| 22 19958814 . G A . . ANN=A|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|19/20|c.2826C>T|p.Pro942Pro|3118/4041|2826/2889|942/962||,A|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|17/18|c.2637C>T|p.Pro879Pro|2637/3558|2637/2700|879/899||,A|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|17/17|c.2637C>T|p.Pro879Pro|2637/2700|2637/2700|879/899||,A|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|16/16|c.2619C>T|p.Pro873Pro|2619/2682|2619/2682|873/893||,A|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|16/16|c.2808C>T|p.Pro936Pro|2808/2871|2808/2871|936/956||,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198G>A|||||1316|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326G>A|||||2333|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195G>A|||||2293|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871G>A|||||2702|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765G>A|||||2275|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059G>A|||||2275|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796G>A|||||1316|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.*457G>A|||||3597|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551C>T|||||1871|,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|11/11|n.1704-548C>T|||||| 22 19958829 . G A . . ANN=A|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|19/20|c.2811C>T|p.Pro937Pro|3103/4041|2811/2889|937/962||,A|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|17/18|c.2622C>T|p.Pro874Pro|2622/3558|2622/2700|874/899||,A|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|17/17|c.2622C>T|p.Pro874Pro|2622/2700|2622/2700|874/899||,A|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|16/16|c.2604C>T|p.Pro868Pro|2604/2682|2604/2682|868/893||,A|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|16/16|c.2793C>T|p.Pro931Pro|2793/2871|2793/2871|931/956||,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198G>A|||||1331|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326G>A|||||2348|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195G>A|||||2308|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871G>A|||||2717|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765G>A|||||2290|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059G>A|||||2290|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796G>A|||||1331|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.*457G>A|||||3612|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551C>T|||||1856|,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|11/11|n.1704-563C>T|||||| 22 19958870 . G A . . ANN=A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198G>A|||||1372|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326G>A|||||2389|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195G>A|||||2349|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871G>A|||||2758|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765G>A|||||2331|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059G>A|||||2331|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796G>A|||||1372|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.*457G>A|||||3653|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551C>T|||||1815|,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|18/19|c.2782-12C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|11/11|n.1703+539C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|16/17|c.2593-12C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|16/16|c.2593-12C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|15/15|c.2575-12C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|15/15|c.2764-12C>T|||||| 22 19958885 . G A . . ANN=A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198G>A|||||1387|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326G>A|||||2404|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195G>A|||||2364|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871G>A|||||2773|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765G>A|||||2346|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059G>A|||||2346|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796G>A|||||1387|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.*457G>A|||||3668|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551C>T|||||1800|,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|18/19|c.2782-27C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|11/11|n.1703+524C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|16/17|c.2593-27C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|16/16|c.2593-27C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|15/15|c.2575-27C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|15/15|c.2764-27C>T|||||| 22 19958898 . GGTTA G . . ANN=|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198_*1198delGTTA|||||1401|,|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326_*1326delGTTA|||||2418|,|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195_*1195delGTTA|||||2378|,|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871_*871delGTTA|||||2787|WARNING_TRANSCRIPT_NO_STOP_CODON,|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765_*765delGTTA|||||2360|,|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059_*1059delGTTA|||||2360|,|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796_*796delGTTA|||||1401|,|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.*457_*457delGTTA|||||3682|WARNING_TRANSCRIPT_NO_START_CODON,|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551_*551delTAAC|||||1786|,|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|18/19|c.2782-44_2782-41delTAAC||||||,|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|11/11|n.1703+507_1703+510delTAAC||||||,|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|16/17|c.2593-44_2593-41delTAAC||||||,|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|16/16|c.2593-44_2593-41delTAAC||||||,|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|15/15|c.2575-44_2575-41delTAAC||||||,|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|15/15|c.2764-44_2764-41delTAAC|||||| 22 19959366 . G A . . ANN=A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198G>A|||||1868|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326G>A|||||2885|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195G>A|||||2845|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871G>A|||||3254|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765G>A|||||2827|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059G>A|||||2827|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796G>A|||||1868|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.*457G>A|||||4149|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551C>T|||||1319|,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|18/19|c.2781+43C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|11/11|n.1703+43C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|16/17|c.2592+43C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|16/16|c.2592+43C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|15/15|c.2574+43C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|15/15|c.2763+43C>T|||||| 22 19959376 . C T . . ANN=T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198C>T|||||1878|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326C>T|||||2895|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195C>T|||||2855|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871C>T|||||3264|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765C>T|||||2837|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059C>T|||||2837|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796C>T|||||1878|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.*457C>T|||||4159|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551G>A|||||1309|,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|18/19|c.2781+33G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|11/11|n.1703+33G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|16/17|c.2592+33G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|16/16|c.2592+33G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|15/15|c.2574+33G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|15/15|c.2763+33G>A|||||| 22 19959388 . C T . . ANN=T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198C>T|||||1890|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326C>T|||||2907|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195C>T|||||2867|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871C>T|||||3276|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765C>T|||||2849|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059C>T|||||2849|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796C>T|||||1890|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.*457C>T|||||4171|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551G>A|||||1297|,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|18/19|c.2781+21G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|11/11|n.1703+21G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|16/17|c.2592+21G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|16/16|c.2592+21G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|15/15|c.2574+21G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|15/15|c.2763+21G>A|||||| 22 19959455 . C T . . ANN=T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|18/20|c.2735G>A|p.Arg912Gln|3027/4041|2735/2889|912/962||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|16/18|c.2546G>A|p.Arg849Gln|2546/3558|2546/2700|849/899||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|16/17|c.2546G>A|p.Arg849Gln|2546/2700|2546/2700|849/899||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|15/16|c.2528G>A|p.Arg843Gln|2528/2682|2528/2682|843/893||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|15/16|c.2717G>A|p.Arg906Gln|2717/2871|2717/2871|906/956||,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198C>T|||||1957|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326C>T|||||2974|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195C>T|||||2934|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871C>T|||||3343|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765C>T|||||2916|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059C>T|||||2916|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796C>T|||||1957|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.*457C>T|||||4238|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551G>A|||||1230|,T|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|11/12|n.1657G>A|||||| 22 19959456 . G A . . ANN=A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|18/20|c.2734C>T|p.Arg912Trp|3026/4041|2734/2889|912/962||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|16/18|c.2545C>T|p.Arg849Trp|2545/3558|2545/2700|849/899||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|16/17|c.2545C>T|p.Arg849Trp|2545/2700|2545/2700|849/899||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|15/16|c.2527C>T|p.Arg843Trp|2527/2682|2527/2682|843/893||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|15/16|c.2716C>T|p.Arg906Trp|2716/2871|2716/2871|906/956||,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198G>A|||||1958|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326G>A|||||2975|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195G>A|||||2935|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871G>A|||||3344|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765G>A|||||2917|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059G>A|||||2917|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796G>A|||||1958|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.*457G>A|||||4239|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551C>T|||||1229|,A|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|11/12|n.1656C>T|||||| 22 19959457 . T C . . ANN=C|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|18/20|c.2733A>G|p.Pro911Pro|3025/4041|2733/2889|911/962||,C|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|16/18|c.2544A>G|p.Pro848Pro|2544/3558|2544/2700|848/899||,C|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|16/17|c.2544A>G|p.Pro848Pro|2544/2700|2544/2700|848/899||,C|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|15/16|c.2526A>G|p.Pro842Pro|2526/2682|2526/2682|842/893||,C|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|15/16|c.2715A>G|p.Pro905Pro|2715/2871|2715/2871|905/956||,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198T>C|||||1959|,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326T>C|||||2976|,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195T>C|||||2936|,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871T>C|||||3345|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765T>C|||||2918|,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059T>C|||||2918|,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796T>C|||||1959|,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.*457T>C|||||4240|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551A>G|||||1228|,C|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|11/12|n.1655A>G|||||| 22 19959464 . C T . . ANN=T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|18/20|c.2726G>A|p.Arg909Gln|3018/4041|2726/2889|909/962||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|16/18|c.2537G>A|p.Arg846Gln|2537/3558|2537/2700|846/899||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|16/17|c.2537G>A|p.Arg846Gln|2537/2700|2537/2700|846/899||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|15/16|c.2519G>A|p.Arg840Gln|2519/2682|2519/2682|840/893||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|15/16|c.2708G>A|p.Arg903Gln|2708/2871|2708/2871|903/956||,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198C>T|||||1966|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326C>T|||||2983|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195C>T|||||2943|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871C>T|||||3352|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765C>T|||||2925|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059C>T|||||2925|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796C>T|||||1966|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.*457C>T|||||4247|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551G>A|||||1221|,T|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|11/12|n.1648G>A|||||| 22 19959473 . C T . . ANN=T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|18/20|c.2717G>A|p.Arg906Gln|3009/4041|2717/2889|906/962||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|16/18|c.2528G>A|p.Arg843Gln|2528/3558|2528/2700|843/899||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|16/17|c.2528G>A|p.Arg843Gln|2528/2700|2528/2700|843/899||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|15/16|c.2510G>A|p.Arg837Gln|2510/2682|2510/2682|837/893||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|15/16|c.2699G>A|p.Arg900Gln|2699/2871|2699/2871|900/956||,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198C>T|||||1975|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326C>T|||||2992|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195C>T|||||2952|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871C>T|||||3361|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765C>T|||||2934|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059C>T|||||2934|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796C>T|||||1975|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.*457C>T|||||4256|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551G>A|||||1212|,T|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|11/12|n.1639G>A|||||| 22 19959503 . G A . . ANN=A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198G>A|||||2005|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326G>A|||||3022|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195G>A|||||2982|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871G>A|||||3391|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765G>A|||||2964|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059G>A|||||2964|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796G>A|||||2005|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.*457G>A|||||4286|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551C>T|||||1182|,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|17/19|c.2696-9C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|10/11|n.1618-9C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|15/17|c.2507-9C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|15/16|c.2507-9C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|14/15|c.2489-9C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|14/15|c.2678-9C>T|||||| 22 19959539 . G A . . ANN=A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198G>A|||||2041|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326G>A|||||3058|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195G>A|||||3018|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871G>A|||||3427|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765G>A|||||3000|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059G>A|||||3000|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796G>A|||||2041|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.*457G>A|||||4322|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551C>T|||||1146|,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|17/19|c.2696-45C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|10/11|n.1618-45C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|15/17|c.2507-45C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|15/16|c.2507-45C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|14/15|c.2489-45C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|14/15|c.2678-45C>T|||||| 22 19959843 . C T . . ANN=T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198C>T|||||2345|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326C>T|||||3362|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195C>T|||||3322|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871C>T|||||3731|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765C>T|||||3304|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059C>T|||||3304|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796C>T|||||2345|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.*457C>T|||||4626|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551G>A|||||842|,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|17/19|c.2695+38G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|10/11|n.1617+38G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|15/17|c.2506+38G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|15/16|c.2506+38G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|14/15|c.2488+38G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|14/15|c.2677+38G>A|||||| 22 19959918 . G A . . ANN=A|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|17/20|c.2658C>T|p.Gly886Gly|2950/4041|2658/2889|886/962||,A|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|15/18|c.2469C>T|p.Gly823Gly|2469/3558|2469/2700|823/899||,A|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|15/17|c.2469C>T|p.Gly823Gly|2469/2700|2469/2700|823/899||,A|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|14/16|c.2451C>T|p.Gly817Gly|2451/2682|2451/2682|817/893||,A|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|14/16|c.2640C>T|p.Gly880Gly|2640/2871|2640/2871|880/956||,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198G>A|||||2420|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326G>A|||||3437|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195G>A|||||3397|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871G>A|||||3806|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765G>A|||||3379|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059G>A|||||3379|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796G>A|||||2420|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.*457G>A|||||4701|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551C>T|||||767|,A|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|10/12|n.1580C>T|||||| 22 19959919 . C A . . ANN=A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|17/20|c.2657G>T|p.Gly886Val|2949/4041|2657/2889|886/962||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|15/18|c.2468G>T|p.Gly823Val|2468/3558|2468/2700|823/899||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|15/17|c.2468G>T|p.Gly823Val|2468/2700|2468/2700|823/899||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|14/16|c.2450G>T|p.Gly817Val|2450/2682|2450/2682|817/893||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|14/16|c.2639G>T|p.Gly880Val|2639/2871|2639/2871|880/956||,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198C>A|||||2421|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326C>A|||||3438|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195C>A|||||3398|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871C>A|||||3807|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765C>A|||||3380|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059C>A|||||3380|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796C>A|||||2421|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.*457C>A|||||4702|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551G>T|||||766|,A|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|10/12|n.1579G>T|||||| 22 19959955 . A G . . ANN=G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198A>G|||||2457|,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326A>G|||||3474|,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195A>G|||||3434|,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871A>G|||||3843|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765A>G|||||3416|,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059A>G|||||3416|,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796A>G|||||2457|,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.*457A>G|||||4738|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551T>C|||||730|,G|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|16/19|c.2642-21T>C||||||,G|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|9/11|n.1564-21T>C||||||,G|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|14/17|c.2453-21T>C||||||,G|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|14/16|c.2453-21T>C||||||,G|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|13/15|c.2435-21T>C||||||,G|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|13/15|c.2624-21T>C|||||| 22 19960220 . G A . . ANN=A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198G>A|||||2722|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326G>A|||||3739|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195G>A|||||3699|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871G>A|||||4108|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765G>A|||||3681|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059G>A|||||3681|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796G>A|||||2722|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551C>T|||||465|,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|16/19|c.2641+40C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|9/11|n.1563+40C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|14/17|c.2452+40C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|14/16|c.2452+40C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|13/15|c.2434+40C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|13/15|c.2623+40C>T|||||| 22 19960238 . C A,G,T . . ANN=A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198C>A|||||2740|,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198C>G|||||2740|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198C>T|||||2740|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326C>A|||||3757|,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326C>G|||||3757|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326C>T|||||3757|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195C>A|||||3717|,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195C>G|||||3717|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195C>T|||||3717|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871C>A|||||4126|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871C>G|||||4126|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871C>T|||||4126|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765C>A|||||3699|,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765C>G|||||3699|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765C>T|||||3699|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059C>A|||||3699|,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059C>G|||||3699|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059C>T|||||3699|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796C>A|||||2740|,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796C>G|||||2740|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796C>T|||||2740|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551G>T|||||447|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551G>C|||||447|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551G>A|||||447|,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|16/19|c.2641+22G>T||||||,G|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|16/19|c.2641+22G>C||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|16/19|c.2641+22G>A||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|9/11|n.1563+22G>T||||||,G|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|9/11|n.1563+22G>C||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|9/11|n.1563+22G>A||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|14/17|c.2452+22G>T||||||,G|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|14/17|c.2452+22G>C||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|14/17|c.2452+22G>A||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|14/16|c.2452+22G>T||||||,G|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|14/16|c.2452+22G>C||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|14/16|c.2452+22G>A||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|13/15|c.2434+22G>T||||||,G|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|13/15|c.2434+22G>C||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|13/15|c.2434+22G>A||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|13/15|c.2623+22G>T||||||,G|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|13/15|c.2623+22G>C||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|13/15|c.2623+22G>A|||||| 22 19960326 . G A . . ANN=A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|16/20|c.2575C>T|p.Pro859Ser|2867/4041|2575/2889|859/962||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|14/18|c.2386C>T|p.Pro796Ser|2386/3558|2386/2700|796/899||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|14/17|c.2386C>T|p.Pro796Ser|2386/2700|2386/2700|796/899||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|13/16|c.2368C>T|p.Pro790Ser|2368/2682|2368/2682|790/893||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|13/16|c.2557C>T|p.Pro853Ser|2557/2871|2557/2871|853/956||,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198G>A|||||2828|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326G>A|||||3845|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195G>A|||||3805|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871G>A|||||4214|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765G>A|||||3787|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059G>A|||||3787|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796G>A|||||2828|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551C>T|||||359|,A|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|9/12|n.1497C>T|||||| 22 19960370 . C T . . ANN=T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198C>T|||||2872|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326C>T|||||3889|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195C>T|||||3849|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871C>T|||||4258|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765C>T|||||3831|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059C>T|||||3831|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796C>T|||||2872|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551G>A|||||315|,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|15/19|c.2551-20G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|8/11|n.1473-20G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|13/17|c.2362-20G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|13/16|c.2362-20G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|12/15|c.2344-20G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|12/15|c.2533-20G>A|||||| 22 19960374 . G C . . ANN=C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198G>C|||||2876|,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326G>C|||||3893|,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195G>C|||||3853|,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871G>C|||||4262|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765G>C|||||3835|,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059G>C|||||3835|,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796G>C|||||2876|,C|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551C>G|||||311|,C|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|15/19|c.2551-24C>G||||||,C|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|8/11|n.1473-24C>G||||||,C|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|13/17|c.2362-24C>G||||||,C|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|13/16|c.2362-24C>G||||||,C|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|12/15|c.2344-24C>G||||||,C|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|12/15|c.2533-24C>G|||||| 22 19960375 . G A . . ANN=A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198G>A|||||2877|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326G>A|||||3894|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195G>A|||||3854|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871G>A|||||4263|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765G>A|||||3836|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059G>A|||||3836|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796G>A|||||2877|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551C>T|||||310|,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|15/19|c.2551-25C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|8/11|n.1473-25C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|13/17|c.2362-25C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|13/16|c.2362-25C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|12/15|c.2344-25C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|12/15|c.2533-25C>T|||||| 22 19960394 . G A . . ANN=A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198G>A|||||2896|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326G>A|||||3913|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195G>A|||||3873|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871G>A|||||4282|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765G>A|||||3855|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059G>A|||||3855|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796G>A|||||2896|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551C>T|||||291|,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|15/19|c.2551-44C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|8/11|n.1473-44C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|13/17|c.2362-44C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|13/16|c.2362-44C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|12/15|c.2344-44C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|12/15|c.2533-44C>T|||||| 22 19960412 . G T . . ANN=T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198G>T|||||2914|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326G>T|||||3931|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195G>T|||||3891|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871G>T|||||4300|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765G>T|||||3873|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059G>T|||||3873|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796G>T|||||2914|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551C>A|||||273|,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|15/19|c.2550+36C>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|8/11|n.1472+36C>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|13/17|c.2361+36C>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|13/16|c.2361+36C>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|12/15|c.2343+36C>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|12/15|c.2532+36C>A|||||| 22 19960421 . A G . . ANN=G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198A>G|||||2923|,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326A>G|||||3940|,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195A>G|||||3900|,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871A>G|||||4309|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765A>G|||||3882|,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059A>G|||||3882|,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796A>G|||||2923|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551T>C|||||264|,G|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|15/19|c.2550+27T>C||||||,G|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|8/11|n.1472+27T>C||||||,G|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|13/17|c.2361+27T>C||||||,G|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|13/16|c.2361+27T>C||||||,G|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|12/15|c.2343+27T>C||||||,G|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|12/15|c.2532+27T>C|||||| 22 19960429 . A C . . ANN=C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198A>C|||||2931|,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326A>C|||||3948|,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195A>C|||||3908|,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871A>C|||||4317|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765A>C|||||3890|,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059A>C|||||3890|,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796A>C|||||2931|,C|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551T>G|||||256|,C|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|15/19|c.2550+19T>G||||||,C|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|8/11|n.1472+19T>G||||||,C|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|13/17|c.2361+19T>G||||||,C|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|13/16|c.2361+19T>G||||||,C|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|12/15|c.2343+19T>G||||||,C|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|12/15|c.2532+19T>G|||||| 22 19960434 . C A . . ANN=A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198C>A|||||2936|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326C>A|||||3953|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195C>A|||||3913|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871C>A|||||4322|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765C>A|||||3895|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059C>A|||||3895|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796C>A|||||2936|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551G>T|||||251|,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|15/19|c.2550+14G>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|8/11|n.1472+14G>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|13/17|c.2361+14G>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|13/16|c.2361+14G>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|12/15|c.2343+14G>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|12/15|c.2532+14G>T|||||| 22 19960485 . G C . . ANN=C|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|15/20|c.2513C>G|p.Thr838Ser|2805/4041|2513/2889|838/962||,C|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|13/18|c.2324C>G|p.Thr775Ser|2324/3558|2324/2700|775/899||,C|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|13/17|c.2324C>G|p.Thr775Ser|2324/2700|2324/2700|775/899||,C|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|12/16|c.2306C>G|p.Thr769Ser|2306/2682|2306/2682|769/893||,C|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|12/16|c.2495C>G|p.Thr832Ser|2495/2871|2495/2871|832/956||,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198G>C|||||2987|,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326G>C|||||4004|,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195G>C|||||3964|,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871G>C|||||4373|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765G>C|||||3946|,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059G>C|||||3946|,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796G>C|||||2987|,C|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551C>G|||||200|,C|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|8/12|n.1435C>G|||||| 22 19960499 . C T . . ANN=T|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|15/20|c.2499G>A|p.Lys833Lys|2791/4041|2499/2889|833/962||,T|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|13/18|c.2310G>A|p.Lys770Lys|2310/3558|2310/2700|770/899||,T|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|13/17|c.2310G>A|p.Lys770Lys|2310/2700|2310/2700|770/899||,T|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|12/16|c.2292G>A|p.Lys764Lys|2292/2682|2292/2682|764/893||,T|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|12/16|c.2481G>A|p.Lys827Lys|2481/2871|2481/2871|827/956||,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198C>T|||||3001|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326C>T|||||4018|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195C>T|||||3978|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871C>T|||||4387|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765C>T|||||3960|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059C>T|||||3960|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796C>T|||||3001|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551G>A|||||186|,T|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|8/12|n.1421G>A|||||| 22 19960512 . A G . . ANN=G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|15/20|c.2486T>C|p.Val829Ala|2778/4041|2486/2889|829/962||,G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|13/18|c.2297T>C|p.Val766Ala|2297/3558|2297/2700|766/899||,G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|13/17|c.2297T>C|p.Val766Ala|2297/2700|2297/2700|766/899||,G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|12/16|c.2279T>C|p.Val760Ala|2279/2682|2279/2682|760/893||,G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|12/16|c.2468T>C|p.Val823Ala|2468/2871|2468/2871|823/956||,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198A>G|||||3014|,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326A>G|||||4031|,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195A>G|||||3991|,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871A>G|||||4400|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765A>G|||||3973|,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059A>G|||||3973|,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796A>G|||||3014|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551T>C|||||173|,G|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|8/12|n.1408T>C|||||| 22 19960533 . G A . . ANN=A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|15/20|c.2465C>T|p.Ala822Val|2757/4041|2465/2889|822/962||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|13/18|c.2276C>T|p.Ala759Val|2276/3558|2276/2700|759/899||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|13/17|c.2276C>T|p.Ala759Val|2276/2700|2276/2700|759/899||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|12/16|c.2258C>T|p.Ala753Val|2258/2682|2258/2682|753/893||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|12/16|c.2447C>T|p.Ala816Val|2447/2871|2447/2871|816/956||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_10|ENST00000263207|protein_coding|15/20|c.2465C>T||||||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_10|ENST00000263207|protein_coding|14/20|c.2465C>T||||||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_10|ENST00000401994|protein_coding|13/17|c.2276C>T||||||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_10|ENST00000401994|protein_coding|12/17|c.2276C>T||||||,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198G>A|||||3035|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326G>A|||||4052|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195G>A|||||4012|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871G>A|||||4421|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765G>A|||||3994|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059G>A|||||3994|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796G>A|||||3035|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551C>T|||||152|,A|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|8/12|n.1387C>T|||||| 22 19960536 . G A . . ANN=A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|15/20|c.2462C>T|p.Ala821Val|2754/4041|2462/2889|821/962||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|13/18|c.2273C>T|p.Ala758Val|2273/3558|2273/2700|758/899||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|13/17|c.2273C>T|p.Ala758Val|2273/2700|2273/2700|758/899||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|12/16|c.2255C>T|p.Ala752Val|2255/2682|2255/2682|752/893||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|12/16|c.2444C>T|p.Ala815Val|2444/2871|2444/2871|815/956||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_10|ENST00000263207|protein_coding|15/20|c.2462C>T||||||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_10|ENST00000263207|protein_coding|14/20|c.2462C>T||||||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_10|ENST00000401994|protein_coding|13/17|c.2273C>T||||||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_10|ENST00000401994|protein_coding|12/17|c.2273C>T||||||,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198G>A|||||3038|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326G>A|||||4055|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195G>A|||||4015|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871G>A|||||4424|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765G>A|||||3997|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059G>A|||||3997|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796G>A|||||3038|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551C>T|||||149|,A|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|8/12|n.1384C>T|||||| 22 19960542 . G C . . ANN=C|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|15/20|c.2456C>G|p.Ala819Gly|2748/4041|2456/2889|819/962||,C|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|13/18|c.2267C>G|p.Ala756Gly|2267/3558|2267/2700|756/899||,C|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|13/17|c.2267C>G|p.Ala756Gly|2267/2700|2267/2700|756/899||,C|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|12/16|c.2249C>G|p.Ala750Gly|2249/2682|2249/2682|750/893||,C|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|12/16|c.2438C>G|p.Ala813Gly|2438/2871|2438/2871|813/956||,C|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_10|ENST00000263207|protein_coding|15/20|c.2456C>G||||||,C|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_10|ENST00000263207|protein_coding|14/20|c.2456C>G||||||,C|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_10|ENST00000401994|protein_coding|13/17|c.2267C>G||||||,C|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_10|ENST00000401994|protein_coding|12/17|c.2267C>G||||||,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198G>C|||||3044|,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326G>C|||||4061|,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195G>C|||||4021|,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871G>C|||||4430|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765G>C|||||4003|,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059G>C|||||4003|,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796G>C|||||3044|,C|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551C>G|||||143|,C|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|8/12|n.1378C>G|||||| 22 19960548 . C G . . ANN=G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|15/20|c.2450G>C|p.Arg817Pro|2742/4041|2450/2889|817/962||,G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|13/18|c.2261G>C|p.Arg754Pro|2261/3558|2261/2700|754/899||,G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|13/17|c.2261G>C|p.Arg754Pro|2261/2700|2261/2700|754/899||,G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|12/16|c.2243G>C|p.Arg748Pro|2243/2682|2243/2682|748/893||,G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|12/16|c.2432G>C|p.Arg811Pro|2432/2871|2432/2871|811/956||,G|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_10|ENST00000263207|protein_coding|15/20|c.2450G>C||||||,G|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_10|ENST00000263207|protein_coding|14/20|c.2450G>C||||||,G|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_10|ENST00000401994|protein_coding|13/17|c.2261G>C||||||,G|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_10|ENST00000401994|protein_coding|12/17|c.2261G>C||||||,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198C>G|||||3050|,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326C>G|||||4067|,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195C>G|||||4027|,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871C>G|||||4436|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765C>G|||||4009|,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059C>G|||||4009|,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796C>G|||||3050|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551G>C|||||137|,G|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|8/12|n.1372G>C|||||| 22 19960583 . G T . . ANN=T|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_10|ENST00000263207|protein_coding|15/20|c.2439-24C>A||||||,T|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_10|ENST00000263207|protein_coding|14/20|c.2439-24C>A||||||,T|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_10|ENST00000401994|protein_coding|13/17|c.2250-24C>A||||||,T|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_10|ENST00000401994|protein_coding|12/17|c.2250-24C>A||||||,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198G>T|||||3085|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326G>T|||||4102|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195G>T|||||4062|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871G>T|||||4471|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765G>T|||||4044|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059G>T|||||4044|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796G>T|||||3085|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551C>A|||||102|,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|14/19|c.2439-24C>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|7/11|n.1361-24C>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|12/17|c.2250-24C>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|12/16|c.2250-24C>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|11/15|c.2232-24C>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|11/15|c.2421-24C>A|||||| 22 19960606 . G C . . ANN=C|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_10|ENST00000263207|protein_coding|15/20|c.2438+36C>G||||||,C|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_10|ENST00000263207|protein_coding|14/20|c.2438+36C>G||||||,C|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_10|ENST00000401994|protein_coding|13/17|c.2249+36C>G||||||,C|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_10|ENST00000401994|protein_coding|12/17|c.2249+36C>G||||||,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198G>C|||||3108|,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326G>C|||||4125|,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195G>C|||||4085|,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871G>C|||||4494|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765G>C|||||4067|,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059G>C|||||4067|,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796G>C|||||3108|,C|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551C>G|||||79|,C|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|14/19|c.2438+36C>G||||||,C|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|7/11|n.1360+36C>G||||||,C|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|12/17|c.2249+36C>G||||||,C|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|12/16|c.2249+36C>G||||||,C|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|11/15|c.2231+36C>G||||||,C|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|11/15|c.2420+36C>G|||||| 22 19960666 . G A . . ANN=A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|14/20|c.2414C>T|p.Ala805Val|2706/4041|2414/2889|805/962||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|12/18|c.2225C>T|p.Ala742Val|2225/3558|2225/2700|742/899||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|12/17|c.2225C>T|p.Ala742Val|2225/2700|2225/2700|742/899||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|11/16|c.2207C>T|p.Ala736Val|2207/2682|2207/2682|736/893||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|11/16|c.2396C>T|p.Ala799Val|2396/2871|2396/2871|799/956||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_10|ENST00000263207|protein_coding|15/20|c.2414C>T||||||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_10|ENST00000263207|protein_coding|14/20|c.2414C>T||||||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_10|ENST00000401994|protein_coding|13/17|c.2225C>T||||||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_10|ENST00000401994|protein_coding|12/17|c.2225C>T||||||,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198G>A|||||3168|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326G>A|||||4185|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195G>A|||||4145|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871G>A|||||4554|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765G>A|||||4127|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059G>A|||||4127|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796G>A|||||3168|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551C>T|||||19|,A|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|7/12|n.1336C>T|||||| 22 19960722 . G A . . ANN=A|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|14/20|c.2358C>T|p.Ile786Ile|2650/4041|2358/2889|786/962||,A|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|12/18|c.2169C>T|p.Ile723Ile|2169/3558|2169/2700|723/899||,A|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|12/17|c.2169C>T|p.Ile723Ile|2169/2700|2169/2700|723/899||,A|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|11/16|c.2151C>T|p.Ile717Ile|2151/2682|2151/2682|717/893||,A|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|11/16|c.2340C>T|p.Ile780Ile|2340/2871|2340/2871|780/956||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_10|ENST00000263207|protein_coding|15/20|c.2358C>T||||||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_10|ENST00000263207|protein_coding|14/20|c.2358C>T||||||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_10|ENST00000401994|protein_coding|13/17|c.2169C>T||||||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_10|ENST00000401994|protein_coding|12/17|c.2169C>T||||||,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198G>A|||||3224|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326G>A|||||4241|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195G>A|||||4201|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871G>A|||||4610|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765G>A|||||4183|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059G>A|||||4183|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796G>A|||||3224|,A|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|7/12|n.1280C>T||||||,A|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript|4/4|n.514C>T|||||| 22 19961127 . A G . . ANN=G|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_9|ENST00000263207|protein_coding|13/20|c.2239+39T>C||||||,G|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_9|ENST00000263207|protein_coding|14/20|c.2239+39T>C||||||,G|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_9|ENST00000401994|protein_coding|11/17|c.2050+39T>C||||||,G|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_9|ENST00000401994|protein_coding|12/17|c.2050+39T>C||||||,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198A>G|||||3629|,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326A>G|||||4646|,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195A>G|||||4606|,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765A>G|||||4588|,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059A>G|||||4588|,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796A>G|||||3629|,G|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|13/19|c.2239+39T>C||||||,G|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|6/11|n.1161+39T>C||||||,G|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|11/17|c.2050+39T>C||||||,G|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|11/16|c.2050+39T>C||||||,G|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|10/15|c.2032+39T>C||||||,G|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|10/15|c.2221+39T>C||||||,G|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript|3/3|n.395+39T>C|||||| 22 19961335 . G A . . ANN=A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198G>A|||||3837|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326G>A|||||4854|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195G>A|||||4814|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765G>A|||||4796|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059G>A|||||4796|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796G>A|||||3837|,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|12/19|c.2089-19C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|5/11|n.1011-19C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|10/17|c.1900-19C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|10/16|c.1900-19C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|9/15|c.1882-19C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|9/15|c.2071-19C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript|2/3|n.245-19C>T|||||| 22 19961668 . G A . . ANN=A|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|12/20|c.2055C>T|p.Gly685Gly|2347/4041|2055/2889|685/962||,A|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|10/18|c.1866C>T|p.Gly622Gly|1866/3558|1866/2700|622/899||,A|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|10/17|c.1866C>T|p.Gly622Gly|1866/2700|1866/2700|622/899||,A|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|9/16|c.1848C>T|p.Gly616Gly|1848/2682|1848/2682|616/893||,A|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|9/16|c.2037C>T|p.Gly679Gly|2037/2871|2037/2871|679/956||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_7|ENST00000263207|protein_coding|11/20|c.2055C>T||||||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_7|ENST00000263207|protein_coding|12/20|c.2055C>T||||||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_7|ENST00000401994|protein_coding|9/17|c.1866C>T||||||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_7|ENST00000401994|protein_coding|10/17|c.1866C>T||||||,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198G>A|||||4170|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796G>A|||||4170|,A|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|5/12|n.977C>T||||||,A|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript|2/4|n.211C>T|||||| 22 19961730 . G A . . ANN=A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|12/20|c.1993C>T|p.Arg665Cys|2285/4041|1993/2889|665/962||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|10/18|c.1804C>T|p.Arg602Cys|1804/3558|1804/2700|602/899||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|10/17|c.1804C>T|p.Arg602Cys|1804/2700|1804/2700|602/899||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|9/16|c.1786C>T|p.Arg596Cys|1786/2682|1786/2682|596/893||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|9/16|c.1975C>T|p.Arg659Cys|1975/2871|1975/2871|659/956||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_7|ENST00000263207|protein_coding|11/20|c.1993C>T||||||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_7|ENST00000263207|protein_coding|12/20|c.1993C>T||||||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_7|ENST00000401994|protein_coding|9/17|c.1804C>T||||||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_7|ENST00000401994|protein_coding|10/17|c.1804C>T||||||,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198G>A|||||4232|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796G>A|||||4232|,A|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|5/12|n.915C>T||||||,A|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript|2/4|n.149C>T|||||| 22 19961740 . G A . . ANN=A|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|12/20|c.1983C>T|p.Pro661Pro|2275/4041|1983/2889|661/962||,A|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|10/18|c.1794C>T|p.Pro598Pro|1794/3558|1794/2700|598/899||,A|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|10/17|c.1794C>T|p.Pro598Pro|1794/2700|1794/2700|598/899||,A|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|9/16|c.1776C>T|p.Pro592Pro|1776/2682|1776/2682|592/893||,A|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|9/16|c.1965C>T|p.Pro655Pro|1965/2871|1965/2871|655/956||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_7|ENST00000263207|protein_coding|11/20|c.1983C>T||||||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_7|ENST00000263207|protein_coding|12/20|c.1983C>T||||||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_7|ENST00000401994|protein_coding|9/17|c.1794C>T||||||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_7|ENST00000401994|protein_coding|10/17|c.1794C>T||||||,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198G>A|||||4242|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796G>A|||||4242|,A|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|5/12|n.905C>T||||||,A|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript|2/4|n.139C>T|||||| 22 19963258 . G C . . ANN=C|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|11/20|c.1911C>G|p.Asp637Glu|2203/4041|1911/2889|637/962||,C|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|9/18|c.1722C>G|p.Asp574Glu|1722/3558|1722/2700|574/899||,C|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|9/17|c.1722C>G|p.Asp574Glu|1722/2700|1722/2700|574/899||,C|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|8/16|c.1704C>G|p.Asp568Glu|1704/2682|1704/2682|568/893||,C|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|8/16|c.1893C>G|p.Asp631Glu|1893/2871|1893/2871|631/956||,C|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron||n.*2108C>G|||||4262|,C|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|4/12|n.833C>G||||||,C|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript|1/4|n.28C>G|||||| 22 19963271 . T G . . ANN=G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|11/20|c.1898A>C|p.Asp633Ala|2190/4041|1898/2889|633/962||,G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|9/18|c.1709A>C|p.Asp570Ala|1709/3558|1709/2700|570/899||,G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|9/17|c.1709A>C|p.Asp570Ala|1709/2700|1709/2700|570/899||,G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|8/16|c.1691A>C|p.Asp564Ala|1691/2682|1691/2682|564/893||,G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|8/16|c.1880A>C|p.Asp627Ala|1880/2871|1880/2871|627/956||,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron||n.*2108A>C|||||4249|,G|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|4/12|n.820A>C||||||,G|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript|1/4|n.15A>C|||||| 22 19964193 . C T . . ANN=T|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.-1G>A|||||908|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron||n.*2108G>A|||||3327|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript||n.*863G>A|||||4482|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript||n.*631G>A|||||4712|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript||n.*433G>A|||||4875|,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|10/19|c.1888+36G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|3/11|n.810+745G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|8/17|c.1699+36G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|8/16|c.1699+36G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|7/15|c.1681+745G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|7/15|c.1870+745G>A|||||| 22 19964291 . C T . . ANN=T|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.-1G>A|||||1006|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron||n.*2108G>A|||||3229|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript||n.*863G>A|||||4384|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript||n.*631G>A|||||4614|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript||n.*433G>A|||||4777|,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|9/19|c.1871-45G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|3/11|n.810+647G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|7/17|c.1682-45G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|7/16|c.1682-45G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|7/15|c.1681+647G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|7/15|c.1870+647G>A|||||| 22 19964895 . G C . . ANN=C|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.-1C>G|||||1610|,C|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron||n.*2108C>G|||||2625|,C|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript||n.*863C>G|||||3780|,C|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript||n.*631C>G|||||4010|,C|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript||n.*433C>G|||||4173|,C|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258C>G|||||4619|,C|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|9/19|c.1870+43C>G||||||,C|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|3/11|n.810+43C>G||||||,C|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|7/17|c.1681+43C>G||||||,C|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|7/16|c.1681+43C>G||||||,C|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|7/15|c.1681+43C>G||||||,C|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|7/15|c.1870+43C>G|||||| 22 19964920 . C A . . ANN=A|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.-1G>T|||||1635|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron||n.*2108G>T|||||2600|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript||n.*863G>T|||||3755|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript||n.*631G>T|||||3985|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript||n.*433G>T|||||4148|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258G>T|||||4594|,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|9/19|c.1870+18G>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|3/11|n.810+18G>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|7/17|c.1681+18G>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|7/16|c.1681+18G>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|7/15|c.1681+18G>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|7/15|c.1870+18G>T|||||| 22 19964925 . C T . . ANN=T|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.-1G>A|||||1640|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron||n.*2108G>A|||||2595|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript||n.*863G>A|||||3750|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript||n.*631G>A|||||3980|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript||n.*433G>A|||||4143|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258G>A|||||4589|,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|9/19|c.1870+13G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|3/11|n.810+13G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|7/17|c.1681+13G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|7/16|c.1681+13G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|7/15|c.1681+13G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|7/15|c.1870+13G>A|||||| 22 19964927 . G A . . ANN=A|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.-1C>T|||||1642|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron||n.*2108C>T|||||2593|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript||n.*863C>T|||||3748|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript||n.*631C>T|||||3978|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript||n.*433C>T|||||4141|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258C>T|||||4587|,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|9/19|c.1870+11C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|3/11|n.810+11C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|7/17|c.1681+11C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|7/16|c.1681+11C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|7/15|c.1681+11C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|7/15|c.1870+11C>T|||||| 22 19965047 . G A . . ANN=A|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|9/20|c.1761C>T|p.Pro587Pro|2053/4041|1761/2889|587/962||,A|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|7/18|c.1572C>T|p.Pro524Pro|1572/3558|1572/2700|524/899||,A|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|7/17|c.1572C>T|p.Pro524Pro|1572/2700|1572/2700|524/899||,A|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|7/16|c.1572C>T|p.Pro524Pro|1572/2682|1572/2682|524/893||,A|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|7/16|c.1761C>T|p.Pro587Pro|1761/2871|1761/2871|587/956||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_6|ENST00000263207|protein_coding|9/20|c.1761C>T||||||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_6|ENST00000401994|protein_coding|7/17|c.1572C>T||||||,A|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.-1C>T|||||1762|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron||n.*2108C>T|||||2473|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript||n.*863C>T|||||3628|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript||n.*631C>T|||||3858|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript||n.*433C>T|||||4021|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258C>T|||||4467|,A|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|3/12|n.701C>T|||||| 22 19965059 . G A . . ANN=A|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|9/20|c.1749C>T|p.His583His|2041/4041|1749/2889|583/962||,A|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|7/18|c.1560C>T|p.His520His|1560/3558|1560/2700|520/899||,A|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|7/17|c.1560C>T|p.His520His|1560/2700|1560/2700|520/899||,A|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|7/16|c.1560C>T|p.His520His|1560/2682|1560/2682|520/893||,A|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|7/16|c.1749C>T|p.His583His|1749/2871|1749/2871|583/956||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_6|ENST00000263207|protein_coding|9/20|c.1749C>T||||||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_6|ENST00000401994|protein_coding|7/17|c.1560C>T||||||,A|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.-1C>T|||||1774|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron||n.*2108C>T|||||2461|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript||n.*863C>T|||||3616|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript||n.*631C>T|||||3846|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript||n.*433C>T|||||4009|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258C>T|||||4455|,A|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|3/12|n.689C>T|||||| 22 19965069 . T C . . ANN=C|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|9/20|c.1739A>G|p.Tyr580Cys|2031/4041|1739/2889|580/962||,C|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|7/18|c.1550A>G|p.Tyr517Cys|1550/3558|1550/2700|517/899||,C|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|7/17|c.1550A>G|p.Tyr517Cys|1550/2700|1550/2700|517/899||,C|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|7/16|c.1550A>G|p.Tyr517Cys|1550/2682|1550/2682|517/893||,C|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|7/16|c.1739A>G|p.Tyr580Cys|1739/2871|1739/2871|580/956||,C|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_6|ENST00000263207|protein_coding|9/20|c.1739A>G||||||,C|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_6|ENST00000401994|protein_coding|7/17|c.1550A>G||||||,C|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.-1A>G|||||1784|,C|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron||n.*2108A>G|||||2451|,C|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript||n.*863A>G|||||3606|,C|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript||n.*631A>G|||||3836|,C|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript||n.*433A>G|||||3999|,C|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258A>G|||||4445|,C|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|3/12|n.679A>G|||||| 22 19965084 . A G . . ANN=G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|9/20|c.1724T>C|p.Met575Thr|2016/4041|1724/2889|575/962||,G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|7/18|c.1535T>C|p.Met512Thr|1535/3558|1535/2700|512/899||,G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|7/17|c.1535T>C|p.Met512Thr|1535/2700|1535/2700|512/899||,G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|7/16|c.1535T>C|p.Met512Thr|1535/2682|1535/2682|512/893||,G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|7/16|c.1724T>C|p.Met575Thr|1724/2871|1724/2871|575/956||,G|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_6|ENST00000263207|protein_coding|9/20|c.1724T>C||||||,G|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_6|ENST00000401994|protein_coding|7/17|c.1535T>C||||||,G|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.-1T>C|||||1799|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron||n.*2108T>C|||||2436|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript||n.*863T>C|||||3591|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript||n.*631T>C|||||3821|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript||n.*433T>C|||||3984|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258T>C|||||4430|,G|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|3/12|n.664T>C|||||| 22 19965107 . C T . . ANN=T|splice_region_variant&synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|9/20|c.1701G>A|p.Ser567Ser|1993/4041|1701/2889|567/962||,T|splice_region_variant&non_coding_exon_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|3/12|n.641G>A||||||,T|splice_region_variant&synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|7/18|c.1512G>A|p.Ser504Ser|1512/3558|1512/2700|504/899||,T|splice_region_variant&synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|7/17|c.1512G>A|p.Ser504Ser|1512/2700|1512/2700|504/899||,T|splice_region_variant&synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|7/16|c.1512G>A|p.Ser504Ser|1512/2682|1512/2682|504/893||,T|splice_region_variant&synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|7/16|c.1701G>A|p.Ser567Ser|1701/2871|1701/2871|567/956||,T|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.-1G>A|||||1822|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron||n.*2108G>A|||||2413|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript||n.*863G>A|||||3568|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript||n.*631G>A|||||3798|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript||n.*433G>A|||||3961|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258G>A|||||4407| 22 19965125 . A G . . ANN=G|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.-1T>C|||||1840|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron||n.*2108T>C|||||2395|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript||n.*863T>C|||||3550|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript||n.*631T>C|||||3780|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript||n.*433T>C|||||3943|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258T>C|||||4389|,G|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|8/19|c.1699-16T>C||||||,G|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|2/11|n.639-16T>C||||||,G|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|6/17|c.1510-16T>C||||||,G|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|6/16|c.1510-16T>C||||||,G|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|6/15|c.1510-16T>C||||||,G|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|6/15|c.1699-16T>C|||||| 22 19965437 . G A . . ANN=A|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.-1C>T|||||2152|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron||n.*2108C>T|||||2083|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript||n.*863C>T|||||3238|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript||n.*631C>T|||||3468|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript||n.*433C>T|||||3631|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258C>T|||||4077|,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|8/19|c.1698+44C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|2/11|n.638+44C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|6/17|c.1509+44C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|6/16|c.1509+44C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|6/15|c.1509+44C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|6/15|c.1698+44C>T|||||| 22 19965469 . G A . . ANN=A|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.-1C>T|||||2184|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron||n.*2108C>T|||||2051|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript||n.*863C>T|||||3206|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript||n.*631C>T|||||3436|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript||n.*433C>T|||||3599|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258C>T|||||4045|,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|8/19|c.1698+12C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|2/11|n.638+12C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|6/17|c.1509+12C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|6/16|c.1509+12C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|6/15|c.1509+12C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|6/15|c.1698+12C>T|||||| 22 19965501 . G A . . ANN=A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|8/20|c.1678C>T|p.Arg560Trp|1970/4041|1678/2889|560/962||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|6/18|c.1489C>T|p.Arg497Trp|1489/3558|1489/2700|497/899||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|6/17|c.1489C>T|p.Arg497Trp|1489/2700|1489/2700|497/899||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|6/16|c.1489C>T|p.Arg497Trp|1489/2682|1489/2682|497/893||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|6/16|c.1678C>T|p.Arg560Trp|1678/2871|1678/2871|560/956||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_5|ENST00000263207|protein_coding|7/20|c.1678C>T||||||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_5|ENST00000263207|protein_coding|8/20|c.1678C>T||||||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_5|ENST00000401994|protein_coding|5/17|c.1489C>T||||||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_5|ENST00000401994|protein_coding|6/17|c.1489C>T||||||,A|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.-1C>T|||||2216|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron||n.*2108C>T|||||2019|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript||n.*863C>T|||||3174|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript||n.*631C>T|||||3404|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript||n.*433C>T|||||3567|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258C>T|||||4013|,A|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|2/12|n.618C>T|||||| 22 19965563 . C T . . ANN=T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|8/20|c.1616G>A|p.Arg539Gln|1908/4041|1616/2889|539/962||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|6/18|c.1427G>A|p.Arg476Gln|1427/3558|1427/2700|476/899||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|6/17|c.1427G>A|p.Arg476Gln|1427/2700|1427/2700|476/899||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|6/16|c.1427G>A|p.Arg476Gln|1427/2682|1427/2682|476/893||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|6/16|c.1616G>A|p.Arg539Gln|1616/2871|1616/2871|539/956||,T|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_5|ENST00000263207|protein_coding|7/20|c.1616G>A||||||,T|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_5|ENST00000263207|protein_coding|8/20|c.1616G>A||||||,T|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_5|ENST00000401994|protein_coding|5/17|c.1427G>A||||||,T|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_5|ENST00000401994|protein_coding|6/17|c.1427G>A||||||,T|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.-1G>A|||||2278|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron||n.*2108G>A|||||1957|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript||n.*863G>A|||||3112|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript||n.*631G>A|||||3342|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript||n.*433G>A|||||3505|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258G>A|||||3951|,T|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|2/12|n.556G>A|||||| 22 19966549 . T C . . ANN=C|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|7/20|c.1451A>G|p.His484Arg|1743/4041|1451/2889|484/962||,C|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|5/18|c.1262A>G|p.His421Arg|1262/3558|1262/2700|421/899||,C|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|5/17|c.1262A>G|p.His421Arg|1262/2700|1262/2700|421/899||,C|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|5/16|c.1262A>G|p.His421Arg|1262/2682|1262/2682|421/893||,C|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|5/16|c.1451A>G|p.His484Arg|1451/2871|1451/2871|484/956||,C|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_4|ENST00000263207|protein_coding|7/20|c.1451A>G||||||,C|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_4|ENST00000401994|protein_coding|5/17|c.1262A>G||||||,C|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.-1A>G|||||3264|,C|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron||n.*2108A>G|||||971|,C|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript||n.*863A>G|||||2126|,C|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript||n.*631A>G|||||2356|,C|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript||n.*433A>G|||||2519|,C|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258A>G|||||2965|,C|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|1/12|n.391A>G|||||| 22 19966562 . C T . . ANN=T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|7/20|c.1438G>A|p.Val480Ile|1730/4041|1438/2889|480/962||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|5/18|c.1249G>A|p.Val417Ile|1249/3558|1249/2700|417/899||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|5/17|c.1249G>A|p.Val417Ile|1249/2700|1249/2700|417/899||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|5/16|c.1249G>A|p.Val417Ile|1249/2682|1249/2682|417/893||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|5/16|c.1438G>A|p.Val480Ile|1438/2871|1438/2871|480/956||,T|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_4|ENST00000263207|protein_coding|7/20|c.1438G>A||||||,T|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_4|ENST00000401994|protein_coding|5/17|c.1249G>A||||||,T|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.-1G>A|||||3277|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron||n.*2108G>A|||||958|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript||n.*863G>A|||||2113|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript||n.*631G>A|||||2343|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript||n.*433G>A|||||2506|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258G>A|||||2952|,T|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|1/12|n.378G>A|||||| 22 19966579 . T G . . ANN=G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|7/20|c.1421A>C|p.Tyr474Ser|1713/4041|1421/2889|474/962||,G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|5/18|c.1232A>C|p.Tyr411Ser|1232/3558|1232/2700|411/899||,G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|5/17|c.1232A>C|p.Tyr411Ser|1232/2700|1232/2700|411/899||,G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|5/16|c.1232A>C|p.Tyr411Ser|1232/2682|1232/2682|411/893||,G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|5/16|c.1421A>C|p.Tyr474Ser|1421/2871|1421/2871|474/956||,G|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_4|ENST00000263207|protein_coding|7/20|c.1421A>C||||||,G|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_4|ENST00000401994|protein_coding|5/17|c.1232A>C||||||,G|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.-1A>C|||||3294|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron||n.*2108A>C|||||941|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript||n.*863A>C|||||2096|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript||n.*631A>C|||||2326|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript||n.*433A>C|||||2489|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258A>C|||||2935|,G|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|1/12|n.361A>C|||||| 22 19966610 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|6/19|c.1397-7C>T||||||,A|splice_region_variant&intron_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|4/17|c.1208-7C>T||||||,A|splice_region_variant&intron_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|4/16|c.1208-7C>T||||||,A|splice_region_variant&intron_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|4/15|c.1208-7C>T||||||,A|splice_region_variant&intron_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|4/15|c.1397-7C>T||||||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_3|ENST00000263207|protein_coding|6/20|c.1397-7C>T||||||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_3|ENST00000263207|protein_coding|7/20|c.1397-7C>T||||||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_3|ENST00000401994|protein_coding|4/17|c.1208-7C>T||||||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_3|ENST00000401994|protein_coding|5/17|c.1208-7C>T||||||,A|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.-1C>T|||||3325|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron||n.*2108C>T|||||910|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript||n.*863C>T|||||2065|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript||n.*631C>T|||||2295|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript||n.*433C>T|||||2458|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258C>T|||||2904|,A|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|1/12|n.330C>T|||||| 22 19966614 . C T . . ANN=T|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_3|ENST00000263207|protein_coding|6/20|c.1397-11G>A||||||,T|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_3|ENST00000263207|protein_coding|7/20|c.1397-11G>A||||||,T|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_3|ENST00000401994|protein_coding|4/17|c.1208-11G>A||||||,T|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_3|ENST00000401994|protein_coding|5/17|c.1208-11G>A||||||,T|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.-1G>A|||||3329|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron||n.*2108G>A|||||906|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript||n.*863G>A|||||2061|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript||n.*631G>A|||||2291|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript||n.*433G>A|||||2454|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258G>A|||||2900|,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|6/19|c.1397-11G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|4/17|c.1208-11G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|4/16|c.1208-11G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|4/15|c.1208-11G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|4/15|c.1397-11G>A||||||,T|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|1/12|n.326G>A|||||| 22 19966646 . G A . . ANN=A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_3|ENST00000263207|protein_coding|6/20|c.1397-43C>T||||||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_3|ENST00000263207|protein_coding|7/20|c.1397-43C>T||||||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_3|ENST00000401994|protein_coding|4/17|c.1208-43C>T||||||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_3|ENST00000401994|protein_coding|5/17|c.1208-43C>T||||||,A|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.-1C>T|||||3361|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron||n.*2108C>T|||||874|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript||n.*863C>T|||||2029|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript||n.*631C>T|||||2259|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript||n.*433C>T|||||2422|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258C>T|||||2868|,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|6/19|c.1397-43C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|4/17|c.1208-43C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|4/16|c.1208-43C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|4/15|c.1208-43C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|4/15|c.1397-43C>T||||||,A|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|1/12|n.294C>T|||||| 22 19966647 . C T . . ANN=T|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_3|ENST00000263207|protein_coding|6/20|c.1397-44G>A||||||,T|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_3|ENST00000263207|protein_coding|7/20|c.1397-44G>A||||||,T|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_3|ENST00000401994|protein_coding|4/17|c.1208-44G>A||||||,T|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_3|ENST00000401994|protein_coding|5/17|c.1208-44G>A||||||,T|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.-1G>A|||||3362|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron||n.*2108G>A|||||873|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript||n.*863G>A|||||2028|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript||n.*631G>A|||||2258|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript||n.*433G>A|||||2421|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258G>A|||||2867|,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|6/19|c.1397-44G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|4/17|c.1208-44G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|4/16|c.1208-44G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|4/15|c.1208-44G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|4/15|c.1397-44G>A||||||,T|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|1/12|n.293G>A|||||| 22 19967226 . C T . . ANN=T|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_3|ENST00000263207|protein_coding|6/20|c.1396+40G>A||||||,T|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_3|ENST00000263207|protein_coding|7/20|c.1396+40G>A||||||,T|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_3|ENST00000401994|protein_coding|4/17|c.1207+40G>A||||||,T|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_3|ENST00000401994|protein_coding|5/17|c.1207+40G>A||||||,T|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron||n.-1G>A|||||287|,T|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.-1G>A|||||3941|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron||n.*2108G>A|||||294|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript||n.*863G>A|||||1449|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript||n.*631G>A|||||1679|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript||n.*433G>A|||||1842|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258G>A|||||2288|,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|6/19|c.1396+40G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|4/17|c.1207+40G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|4/16|c.1207+40G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|4/15|c.1207+40G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|4/15|c.1396+40G>A|||||| 22 19967239 . A T . . ANN=T|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_3|ENST00000263207|protein_coding|6/20|c.1396+27T>A||||||,T|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_3|ENST00000263207|protein_coding|7/20|c.1396+27T>A||||||,T|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_3|ENST00000401994|protein_coding|4/17|c.1207+27T>A||||||,T|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_3|ENST00000401994|protein_coding|5/17|c.1207+27T>A||||||,T|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron||n.-1T>A|||||300|,T|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.-1T>A|||||3954|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron||n.*2108T>A|||||281|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript||n.*863T>A|||||1436|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript||n.*631T>A|||||1666|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript||n.*433T>A|||||1829|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258T>A|||||2275|,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|6/19|c.1396+27T>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|4/17|c.1207+27T>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|4/16|c.1207+27T>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|4/15|c.1207+27T>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|4/15|c.1396+27T>A|||||| 22 19967248 . T C . . ANN=C|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_3|ENST00000263207|protein_coding|6/20|c.1396+18A>G||||||,C|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_3|ENST00000263207|protein_coding|7/20|c.1396+18A>G||||||,C|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_3|ENST00000401994|protein_coding|4/17|c.1207+18A>G||||||,C|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_3|ENST00000401994|protein_coding|5/17|c.1207+18A>G||||||,C|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron||n.-1A>G|||||309|,C|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.-1A>G|||||3963|,C|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron||n.*2108A>G|||||272|,C|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript||n.*863A>G|||||1427|,C|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript||n.*631A>G|||||1657|,C|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript||n.*433A>G|||||1820|,C|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258A>G|||||2266|,C|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|6/19|c.1396+18A>G||||||,C|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|4/17|c.1207+18A>G||||||,C|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|4/16|c.1207+18A>G||||||,C|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|4/15|c.1207+18A>G||||||,C|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|4/15|c.1396+18A>G|||||| 22 19967312 . G T . . ANN=T|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|6/20|c.1350C>A|p.Arg450Arg|1642/4041|1350/2889|450/962||,T|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|4/18|c.1161C>A|p.Arg387Arg|1161/3558|1161/2700|387/899||,T|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|4/17|c.1161C>A|p.Arg387Arg|1161/2700|1161/2700|387/899||,T|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|4/16|c.1161C>A|p.Arg387Arg|1161/2682|1161/2682|387/893||,T|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|4/16|c.1350C>A|p.Arg450Arg|1350/2871|1350/2871|450/956||,T|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_3|ENST00000263207|protein_coding|6/20|c.1350C>A||||||,T|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_3|ENST00000263207|protein_coding|7/20|c.1350C>A||||||,T|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_3|ENST00000401994|protein_coding|4/17|c.1161C>A||||||,T|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_3|ENST00000401994|protein_coding|5/17|c.1161C>A||||||,T|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron||n.-1C>A|||||373|,T|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.-1C>A|||||4027|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron||n.*2108C>A|||||208|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript||n.*863C>A|||||1363|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript||n.*631C>A|||||1593|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript||n.*433C>A|||||1756|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258C>A|||||2202| 22 19967330 . A G . . ANN=G|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|6/20|c.1332T>C|p.Gly444Gly|1624/4041|1332/2889|444/962||,G|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|4/18|c.1143T>C|p.Gly381Gly|1143/3558|1143/2700|381/899||,G|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|4/17|c.1143T>C|p.Gly381Gly|1143/2700|1143/2700|381/899||,G|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|4/16|c.1143T>C|p.Gly381Gly|1143/2682|1143/2682|381/893||,G|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|4/16|c.1332T>C|p.Gly444Gly|1332/2871|1332/2871|444/956||,G|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_3|ENST00000263207|protein_coding|6/20|c.1332T>C||||||,G|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_3|ENST00000263207|protein_coding|7/20|c.1332T>C||||||,G|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_3|ENST00000401994|protein_coding|4/17|c.1143T>C||||||,G|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_3|ENST00000401994|protein_coding|5/17|c.1143T>C||||||,G|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron||n.-1T>C|||||391|,G|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.-1T>C|||||4045|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron||n.*2108T>C|||||190|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript||n.*863T>C|||||1345|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript||n.*631T>C|||||1575|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript||n.*433T>C|||||1738|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258T>C|||||2184| 22 19967480 . C G . . ANN=G|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|6/20|c.1182G>C|p.Arg394Arg|1474/4041|1182/2889|394/962||,G|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|4/18|c.993G>C|p.Arg331Arg|993/3558|993/2700|331/899||,G|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|4/17|c.993G>C|p.Arg331Arg|993/2700|993/2700|331/899||,G|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|4/16|c.993G>C|p.Arg331Arg|993/2682|993/2682|331/893||,G|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|4/16|c.1182G>C|p.Arg394Arg|1182/2871|1182/2871|394/956||,G|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_2|ENST00000263207|protein_coding|6/20|c.1182G>C||||||,G|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_2|ENST00000401994|protein_coding|4/17|c.993G>C||||||,G|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron||n.-1G>C|||||541|,G|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.-1G>C|||||4195|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron||n.*2108G>C|||||40|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript||n.*863G>C|||||1195|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript||n.*631G>C|||||1425|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript||n.*433G>C|||||1588|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258G>C|||||2034| 22 19967543 . G A . . ANN=A|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|6/20|c.1119C>T|p.Pro373Pro|1411/4041|1119/2889|373/962||,A|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|4/18|c.930C>T|p.Pro310Pro|930/3558|930/2700|310/899||,A|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|4/17|c.930C>T|p.Pro310Pro|930/2700|930/2700|310/899||,A|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|4/16|c.930C>T|p.Pro310Pro|930/2682|930/2682|310/893||,A|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|4/16|c.1119C>T|p.Pro373Pro|1119/2871|1119/2871|373/956||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_1|ENST00000263207|protein_coding|6/20|c.1119C>T||||||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_1|ENST00000401994|protein_coding|4/17|c.930C>T||||||,A|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron||n.-1C>T|||||604|,A|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.-1C>T|||||4258|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript||n.*863C>T|||||1132|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript||n.*631C>T|||||1362|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript||n.*433C>T|||||1525|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258C>T|||||1971|,A|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron|3/3|n.2085C>T|||||| 22 19967567 . G A . . ANN=A|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|6/20|c.1095C>T|p.Ala365Ala|1387/4041|1095/2889|365/962||,A|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|4/18|c.906C>T|p.Ala302Ala|906/3558|906/2700|302/899||,A|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|4/17|c.906C>T|p.Ala302Ala|906/2700|906/2700|302/899||,A|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|4/16|c.906C>T|p.Ala302Ala|906/2682|906/2682|302/893||,A|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|4/16|c.1095C>T|p.Ala365Ala|1095/2871|1095/2871|365/956||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_1|ENST00000263207|protein_coding|6/20|c.1095C>T||||||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_1|ENST00000401994|protein_coding|4/17|c.906C>T||||||,A|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron||n.-1C>T|||||628|,A|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.-1C>T|||||4282|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript||n.*863C>T|||||1108|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript||n.*631C>T|||||1338|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript||n.*433C>T|||||1501|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258C>T|||||1947|,A|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron|3/3|n.2061C>T|||||| 22 19967614 . G A . . ANN=A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|6/20|c.1048C>T|p.Arg350Cys|1340/4041|1048/2889|350/962||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|4/18|c.859C>T|p.Arg287Cys|859/3558|859/2700|287/899||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|4/17|c.859C>T|p.Arg287Cys|859/2700|859/2700|287/899||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|4/16|c.859C>T|p.Arg287Cys|859/2682|859/2682|287/893||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|4/16|c.1048C>T|p.Arg350Cys|1048/2871|1048/2871|350/956||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_1|ENST00000263207|protein_coding|6/20|c.1048C>T||||||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_1|ENST00000401994|protein_coding|4/17|c.859C>T||||||,A|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron||n.-1C>T|||||675|,A|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.-1C>T|||||4329|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript||n.*863C>T|||||1061|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript||n.*631C>T|||||1291|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript||n.*433C>T|||||1454|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258C>T|||||1900|,A|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron|3/3|n.2014C>T|||||| 22 19967648 . C G . . ANN=G|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|6/20|c.1014G>C|p.Arg338Arg|1306/4041|1014/2889|338/962||,G|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|4/18|c.825G>C|p.Arg275Arg|825/3558|825/2700|275/899||,G|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|4/17|c.825G>C|p.Arg275Arg|825/2700|825/2700|275/899||,G|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|4/16|c.825G>C|p.Arg275Arg|825/2682|825/2682|275/893||,G|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|4/16|c.1014G>C|p.Arg338Arg|1014/2871|1014/2871|338/956||,G|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron||n.-1G>C|||||709|,G|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.-1G>C|||||4363|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript||n.*863G>C|||||1027|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript||n.*631G>C|||||1257|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript||n.*433G>C|||||1420|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258G>C|||||1866|,G|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron|3/3|n.1980G>C|||||| 22 19967808 . G T . . ANN=T|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron||n.-1C>A|||||869|,T|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.-1C>A|||||4523|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript||n.*863C>A|||||867|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript||n.*631C>A|||||1097|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript||n.*433C>A|||||1260|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258C>A|||||1706|,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|5/19|c.897-43C>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|3/17|c.708-43C>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|3/16|c.708-43C>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|3/15|c.708-43C>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|3/15|c.897-43C>A||||||,T|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron|3/3|n.1820C>A|||||| 22 19968714 . G A . . ANN=A|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron||n.-1C>T|||||1775|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript||n.*631C>T|||||191|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript||n.*433C>T|||||354|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258C>T|||||800|,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|5/19|c.896+20C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|3/17|c.707+20C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|3/16|c.707+20C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|3/15|c.707+20C>T||||||,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|3/15|c.896+20C>T||||||,A|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron|3/3|n.914C>T||||||,A|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript|3/3|n.824C>T|||||| 22 19968719 . C T . . ANN=T|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron||n.-1G>A|||||1780|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript||n.*631G>A|||||186|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript||n.*433G>A|||||349|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258G>A|||||795|,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|5/19|c.896+15G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|3/17|c.707+15G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|3/16|c.707+15G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|3/15|c.707+15G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|3/15|c.896+15G>A||||||,T|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron|3/3|n.909G>A||||||,T|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript|3/3|n.819G>A|||||| 22 19968933 . G A . . ANN=A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|5/20|c.697C>T|p.Arg233Trp|989/4041|697/2889|233/962||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|3/18|c.508C>T|p.Arg170Trp|508/3558|508/2700|170/899||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|3/17|c.508C>T|p.Arg170Trp|508/2700|508/2700|170/899||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|3/16|c.508C>T|p.Arg170Trp|508/2682|508/2682|170/893||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|3/16|c.697C>T|p.Arg233Trp|697/2871|697/2871|233/956||,A|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron||n.-1C>T|||||1994|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript||n.*433C>T|||||135|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258C>T|||||581|,A|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron|3/3|n.695C>T||||||,A|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript|3/3|n.605C>T||||||,A|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript|4/4|n.603C>T|||||| 22 19968971 . G A . . ANN=A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|5/20|c.659C>T|p.Pro220Leu|951/4041|659/2889|220/962||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|3/18|c.470C>T|p.Pro157Leu|470/3558|470/2700|157/899||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|3/17|c.470C>T|p.Pro157Leu|470/2700|470/2700|157/899||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|3/16|c.470C>T|p.Pro157Leu|470/2682|470/2682|157/893||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|3/16|c.659C>T|p.Pro220Leu|659/2871|659/2871|220/956||,A|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron||n.-1C>T|||||2032|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript||n.*433C>T|||||97|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258C>T|||||543|,A|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron|3/3|n.657C>T||||||,A|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript|3/3|n.567C>T||||||,A|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript|4/4|n.565C>T|||||| 22 19969043 . C T . . ANN=T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|5/20|c.587G>A|p.Arg196Gln|879/4041|587/2889|196/962||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|3/18|c.398G>A|p.Arg133Gln|398/3558|398/2700|133/899||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|3/17|c.398G>A|p.Arg133Gln|398/2700|398/2700|133/899||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|3/16|c.398G>A|p.Arg133Gln|398/2682|398/2682|133/893||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|3/16|c.587G>A|p.Arg196Gln|587/2871|587/2871|196/956||,T|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron||n.-1G>A|||||2104|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript||n.*433G>A|||||25|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258G>A|||||471|,T|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron|3/3|n.585G>A||||||,T|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript|3/3|n.495G>A||||||,T|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript|4/4|n.493G>A|||||| 22 19969075 . A G . . ANN=G|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|5/20|c.555T>C|p.Ser185Ser|847/4041|555/2889|185/962||,G|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|3/18|c.366T>C|p.Ser122Ser|366/3558|366/2700|122/899||,G|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|3/17|c.366T>C|p.Ser122Ser|366/2700|366/2700|122/899||,G|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|3/16|c.366T>C|p.Ser122Ser|366/2682|366/2682|122/893||,G|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|3/16|c.555T>C|p.Ser185Ser|555/2871|555/2871|185/956||,G|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron||n.-1T>C|||||2136|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258T>C|||||439|,G|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron|3/3|n.553T>C||||||,G|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript|3/3|n.463T>C||||||,G|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript|4/4|n.461T>C||||||,G|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript|3/3|n.426T>C|||||| 22 19969106 . A G . . ANN=G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|5/20|c.524T>C|p.Val175Ala|816/4041|524/2889|175/962||,G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|3/18|c.335T>C|p.Val112Ala|335/3558|335/2700|112/899||,G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|3/17|c.335T>C|p.Val112Ala|335/2700|335/2700|112/899||,G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|3/16|c.335T>C|p.Val112Ala|335/2682|335/2682|112/893||,G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|3/16|c.524T>C|p.Val175Ala|524/2871|524/2871|175/956||,G|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron||n.-1T>C|||||2167|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258T>C|||||408|,G|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron|3/3|n.522T>C||||||,G|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript|3/3|n.432T>C||||||,G|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript|4/4|n.430T>C||||||,G|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript|3/3|n.395T>C|||||| 22 19969182 . C T . . ANN=T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|5/20|c.448G>A|p.Asp150Asn|740/4041|448/2889|150/962||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|3/18|c.259G>A|p.Asp87Asn|259/3558|259/2700|87/899||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|3/17|c.259G>A|p.Asp87Asn|259/2700|259/2700|87/899||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|3/16|c.259G>A|p.Asp87Asn|259/2682|259/2682|87/893||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|3/16|c.448G>A|p.Asp150Asn|448/2871|448/2871|150/956||,T|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron||n.-1G>A|||||2243|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258G>A|||||332|,T|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron|3/3|n.446G>A||||||,T|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript|3/3|n.356G>A||||||,T|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript|4/4|n.354G>A||||||,T|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript|3/3|n.319G>A|||||| 22 19969208 . A G . . ANN=G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|5/20|c.422T>C|p.Val141Ala|714/4041|422/2889|141/962||,G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|3/18|c.233T>C|p.Val78Ala|233/3558|233/2700|78/899||,G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|3/17|c.233T>C|p.Val78Ala|233/2700|233/2700|78/899||,G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|3/16|c.233T>C|p.Val78Ala|233/2682|233/2682|78/893||,G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|3/16|c.422T>C|p.Val141Ala|422/2871|422/2871|141/956||,G|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron||n.-1T>C|||||2269|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258T>C|||||306|,G|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron|3/3|n.420T>C||||||,G|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript|3/3|n.330T>C||||||,G|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript|4/4|n.328T>C||||||,G|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript|3/3|n.293T>C|||||| 22 19969285 . T G . . ANN=G|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron||n.-1A>C|||||2346|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258A>C|||||229|,G|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|4/19|c.370-25A>C||||||,G|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|2/17|c.181-25A>C||||||,G|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|2/16|c.181-25A>C||||||,G|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|2/15|c.181-25A>C||||||,G|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|2/15|c.370-25A>C||||||,G|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron|2/2|n.368-25A>C||||||,G|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript|2/2|n.278-25A>C||||||,G|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript|3/3|n.276-25A>C||||||,G|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript|2/2|n.241-25A>C|||||| 22 19969295 . C T . . ANN=T|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron||n.-1G>A|||||2356|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258G>A|||||219|,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|4/19|c.370-35G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|2/17|c.181-35G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|2/16|c.181-35G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|2/15|c.181-35G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|2/15|c.370-35G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron|2/2|n.368-35G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript|2/2|n.278-35G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript|3/3|n.276-35G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript|2/2|n.241-35G>A|||||| 22 19969420 . C T . . ANN=T|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron||n.-1G>A|||||2481|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258G>A|||||94|,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|4/19|c.369+36G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|2/17|c.180+36G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|2/16|c.180+36G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|2/15|c.180+36G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|2/15|c.369+36G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron|2/2|n.367+36G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript|2/2|n.277+36G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript|3/3|n.275+36G>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript|2/2|n.240+36G>A|||||| 22 19969469 . C T . . ANN=T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|4/20|c.356G>A|p.Arg119His|648/4041|356/2889|119/962||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|2/18|c.167G>A|p.Arg56His|167/3558|167/2700|56/899||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|2/17|c.167G>A|p.Arg56His|167/2700|167/2700|56/899||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|2/16|c.167G>A|p.Arg56His|167/2682|167/2682|56/893||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|2/16|c.356G>A|p.Arg119His|356/2871|356/2871|119/956||,T|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron||n.-1G>A|||||2530|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258G>A|||||45|,T|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron|2/3|n.354G>A||||||,T|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript|2/3|n.264G>A||||||,T|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript|3/4|n.262G>A||||||,T|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript|2/3|n.227G>A|||||| 22 19969488 . C T . . ANN=T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|4/20|c.337G>A|p.Glu113Lys|629/4041|337/2889|113/962||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|2/18|c.148G>A|p.Glu50Lys|148/3558|148/2700|50/899||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|2/17|c.148G>A|p.Glu50Lys|148/2700|148/2700|50/899||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|2/16|c.148G>A|p.Glu50Lys|148/2682|148/2682|50/893||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|2/16|c.337G>A|p.Glu113Lys|337/2871|337/2871|113/956||,T|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron||n.-1G>A|||||2549|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258G>A|||||26|,T|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron|2/3|n.335G>A||||||,T|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript|2/3|n.245G>A||||||,T|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript|3/4|n.243G>A||||||,T|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript|2/3|n.208G>A|||||| 22 19969495 . G T . . ANN=T|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|4/20|c.330C>A|p.Val110Val|622/4041|330/2889|110/962||,T|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|2/18|c.141C>A|p.Val47Val|141/3558|141/2700|47/899||,T|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|2/17|c.141C>A|p.Val47Val|141/2700|141/2700|47/899||,T|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|2/16|c.141C>A|p.Val47Val|141/2682|141/2682|47/893||,T|synonymous_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|2/16|c.330C>A|p.Val110Val|330/2871|330/2871|110/956||,T|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron||n.-1C>A|||||2556|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258C>A|||||19|,T|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron|2/3|n.328C>A||||||,T|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript|2/3|n.238C>A||||||,T|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript|3/4|n.236C>A||||||,T|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript|2/3|n.201C>A|||||| 22 19978074 . A T . . ANN=T|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding||c.-1T>A|||||3458|,T|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding||c.-1T>A|||||3458|,T|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding||c.-1T>A|||||3458|,T|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript||n.-1T>A|||||3361|,T|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript||n.-1T>A|||||3396|,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|3/19|c.210+34T>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|1/15|c.210+34T>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron|1/2|n.208+34T>A||||||,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript|1/1|n.158-8460T>A|||||| 22 19978218 . G A . . ANN=A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|3/20|c.100C>T|p.Arg34Trp|392/4041|100/2889|34/962||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|1/16|c.100C>T|p.Arg34Trp|100/2871|100/2871|34/956||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|coiled-coil_region|ENST00000263207|protein_coding|3/20|c.100C>T||||||,A|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding||c.-1C>T|||||3602|,A|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding||c.-1C>T|||||3602|,A|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding||c.-1C>T|||||3602|,A|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript||n.-1C>T|||||3505|,A|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript||n.-1C>T|||||3540|,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript|1/1|n.158-8604C>T||||||,A|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron|1/3|n.98C>T|||||| 22 19978253 . C T . . ANN=T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|3/20|c.65G>A|p.Arg22His|357/4041|65/2889|22/962||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|1/16|c.65G>A|p.Arg22His|65/2871|65/2871|22/956||,T|sequence_feature|LOW|ARVCF|ENSG00000099889|coiled-coil_region|ENST00000263207|protein_coding|3/20|c.65G>A||||||,T|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding||c.-1G>A|||||3637|,T|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding||c.-1G>A|||||3637|,T|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding||c.-1G>A|||||3637|,T|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript||n.-1G>A|||||3540|,T|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript||n.-1G>A|||||3575|,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript|1/1|n.158-8639G>A||||||,T|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron|1/3|n.63G>A|||||| 22 19978278 . C T . . ANN=T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|3/20|c.40G>A|p.Ala14Thr|332/4041|40/2889|14/962||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|1/16|c.40G>A|p.Ala14Thr|40/2871|40/2871|14/956||,T|sequence_feature|LOW|ARVCF|ENSG00000099889|coiled-coil_region|ENST00000263207|protein_coding|3/20|c.40G>A||||||,T|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding||c.-1G>A|||||3662|,T|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding||c.-1G>A|||||3662|,T|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding||c.-1G>A|||||3662|,T|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript||n.-1G>A|||||3565|,T|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript||n.-1G>A|||||3600|,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript|1/1|n.158-8664G>A||||||,T|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron|1/3|n.38G>A|||||| 22 19978335 . G A . . ANN=A|splice_region_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|3/20|c.-18C>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|3/20|c.-18C>T||||||,A|5_prime_UTR_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|3/20|c.-18C>T|||||18|,A|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding||c.-1C>T|||||3719|,A|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding||c.-1C>T|||||3719|,A|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding||c.-1C>T|||||3719|,A|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding||c.-1C>T|||||18|,A|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron||n.-1C>T|||||20|,A|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript||n.-1C>T|||||3622|,A|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript||n.-1C>T|||||3657|,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript|1/1|n.158-8721C>T|||||| 22 20024308 . C T . . ANN=T|5_prime_UTR_premature_start_codon_gain_variant|LOW|TANGO2|ENSG00000183597|transcript|ENST00000401833|protein_coding|2/9|c.-131C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|TANGO2|ENSG00000183597|transcript|ENST00000401886|protein_coding|2/7|c.-14C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|TANGO2|ENSG00000183597|transcript|ENST00000432198|protein_coding|3/5|c.-14C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|TANGO2|ENSG00000183597|transcript|ENST00000447208|protein_coding|3/10|c.-14C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|TANGO2|ENSG00000183597|transcript|ENST00000398042|protein_coding|2/7|c.-14C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|2/8|n.-131C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|TANGO2|ENSG00000183597|transcript|ENST00000450664|protein_coding|2/7|c.-14C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|2/9|n.-14C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|TANGO2|ENSG00000183597|transcript|ENST00000432883|protein_coding|2/7|c.-14C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|TANGO2|ENSG00000183597|transcript|ENST00000327374|protein_coding|2/9|c.-14C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|TANGO2|ENSG00000183597|transcript|ENST00000430807|nonsense_mediated_decay|2/7|n.-14C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|TANGO2|ENSG00000183597|transcript|ENST00000434168|protein_coding|2/8|c.-14C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|TANGO2|ENSG00000183597|transcript|ENST00000434570|protein_coding|1/6|c.-131C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|TANGO2|ENSG00000183597|transcript|ENST00000420290|protein_coding|1/7|c.-193C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|TANGO2|ENSG00000183597|transcript|ENST00000444651|nonsense_mediated_decay|1/6|n.-14C>T||||||,T|5_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000401833|protein_coding|2/9|c.-131C>T|||||131|,T|5_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000401886|protein_coding|2/7|c.-14C>T|||||14|,T|5_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000432198|protein_coding|3/5|c.-14C>T|||||14|WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000447208|protein_coding|3/10|c.-14C>T|||||14|,T|5_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000398042|protein_coding|2/7|c.-14C>T|||||14|,T|5_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|2/8|n.-131C>T|||||131|,T|5_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450664|protein_coding|2/7|c.-14C>T|||||14|WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|2/9|n.-14C>T|||||14|,T|5_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000432883|protein_coding|2/7|c.-14C>T|||||14|,T|5_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000327374|protein_coding|2/9|c.-14C>T|||||14|,T|5_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000430807|nonsense_mediated_decay|2/7|n.-14C>T|||||14|,T|5_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434168|protein_coding|2/8|c.-14C>T|||||14|WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434570|protein_coding|1/6|c.-131C>T|||||131|,T|5_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000420290|protein_coding|1/7|c.-193C>T|||||15714|,T|5_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000444651|nonsense_mediated_decay|1/6|n.-14C>T|||||14|,T|upstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000456048|protein_coding||c.-1C>T|||||239|,T|downstream_gene_variant|MODIFIER|MIR185|ENSG00000208023|transcript|ENST00000385288|miRNA||n.*82C>T|||||3565|,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000471707|retained_intron|2/5|n.205C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000475446|processed_transcript|2/4|n.188C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000411907|processed_transcript|2/6|n.92C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|2/8|n.-131C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|2/9|n.-14C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000479679|processed_transcript|2/6|n.151C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000430807|nonsense_mediated_decay|2/7|n.-14C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000462579|retained_intron|1/5|n.27C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000444651|nonsense_mediated_decay|1/6|n.-14C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000484373|retained_intron|1/4|n.26C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000485715|processed_transcript|1/6|n.26C>T|||||| 22 20024318 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000401833|protein_coding|2/9|c.-121C>T|||||121|,T|5_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000401886|protein_coding|2/7|c.-4C>T|||||4|,T|5_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000432198|protein_coding|3/5|c.-4C>T|||||4|WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000447208|protein_coding|3/10|c.-4C>T|||||4|,T|5_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000398042|protein_coding|2/7|c.-4C>T|||||4|,T|5_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|2/8|n.-121C>T|||||121|,T|5_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450664|protein_coding|2/7|c.-4C>T|||||4|WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|2/9|n.-4C>T|||||4|,T|5_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000432883|protein_coding|2/7|c.-4C>T|||||4|,T|5_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000327374|protein_coding|2/9|c.-4C>T|||||4|,T|5_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000430807|nonsense_mediated_decay|2/7|n.-4C>T|||||4|,T|5_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434168|protein_coding|2/8|c.-4C>T|||||4|WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434570|protein_coding|1/6|c.-121C>T|||||121|,T|5_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000420290|protein_coding|1/7|c.-183C>T|||||15704|,T|5_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000444651|nonsense_mediated_decay|1/6|n.-4C>T|||||4|,T|upstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000456048|protein_coding||c.-1C>T|||||229|,T|downstream_gene_variant|MODIFIER|MIR185|ENSG00000208023|transcript|ENST00000385288|miRNA||n.*82C>T|||||3575|,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000471707|retained_intron|2/5|n.215C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000475446|processed_transcript|2/4|n.198C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000411907|processed_transcript|2/6|n.102C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|2/8|n.-121C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|2/9|n.-4C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000479679|processed_transcript|2/6|n.161C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000430807|nonsense_mediated_decay|2/7|n.-4C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000462579|retained_intron|1/5|n.37C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000444651|nonsense_mediated_decay|1/6|n.-4C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000484373|retained_intron|1/4|n.36C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000485715|processed_transcript|1/6|n.36C>T|||||| 22 20024404 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000401833|protein_coding|2/9|c.-35C>T|||||35|,T|5_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|2/8|n.-35C>T|||||35|,T|5_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434570|protein_coding|1/6|c.-35C>T|||||35|,T|upstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000456048|protein_coding||c.-1C>T|||||143|,T|downstream_gene_variant|MODIFIER|MIR185|ENSG00000208023|transcript|ENST00000385288|miRNA||n.*82C>T|||||3661|,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000471707|retained_intron|2/4|n.274+27C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000401886|protein_coding|2/6|c.56+27C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000475446|processed_transcript|2/3|n.257+27C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000432198|protein_coding|3/4|c.56+27C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000447208|protein_coding|3/9|c.56+27C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000411907|processed_transcript|2/5|n.161+27C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000398042|protein_coding|2/6|c.56+27C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450664|protein_coding|2/6|c.56+27C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|2/8|n.56+27C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000432883|protein_coding|2/6|c.56+27C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000327374|protein_coding|2/8|c.56+27C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000479679|processed_transcript|2/5|n.220+27C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000430807|nonsense_mediated_decay|2/6|n.56+27C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434168|protein_coding|2/7|c.56+27C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000462579|retained_intron|1/4|n.96+27C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000420290|protein_coding|1/6|c.-124+27C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000444651|nonsense_mediated_decay|1/5|n.56+27C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000484373|retained_intron|1/3|n.95+27C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000485715|processed_transcript|1/5|n.95+27C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|2/8|n.-35C>T|||||| 22 20024417 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000401833|protein_coding|2/9|c.-22C>T|||||22|,T|5_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|2/8|n.-22C>T|||||22|,T|5_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434570|protein_coding|1/6|c.-22C>T|||||22|,T|upstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000456048|protein_coding||c.-1C>T|||||130|,T|downstream_gene_variant|MODIFIER|MIR185|ENSG00000208023|transcript|ENST00000385288|miRNA||n.*82C>T|||||3674|,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000471707|retained_intron|2/4|n.274+40C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000401886|protein_coding|2/6|c.56+40C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000475446|processed_transcript|2/3|n.257+40C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000432198|protein_coding|3/4|c.56+40C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000447208|protein_coding|3/9|c.56+40C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000411907|processed_transcript|2/5|n.161+40C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000398042|protein_coding|2/6|c.56+40C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450664|protein_coding|2/6|c.56+40C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|2/8|n.56+40C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000432883|protein_coding|2/6|c.56+40C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000327374|protein_coding|2/8|c.56+40C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000479679|processed_transcript|2/5|n.220+40C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000430807|nonsense_mediated_decay|2/6|n.56+40C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434168|protein_coding|2/7|c.56+40C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000462579|retained_intron|1/4|n.96+40C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000420290|protein_coding|1/6|c.-124+40C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000444651|nonsense_mediated_decay|1/5|n.56+40C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000484373|retained_intron|1/3|n.95+40C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000485715|processed_transcript|1/5|n.95+40C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|2/8|n.-22C>T|||||| 22 20030980 . C T . . ANN=T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000401833|protein_coding|3/8|c.268+14C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000471707|retained_intron|3/4|n.363+14C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000401886|protein_coding|3/6|c.145+14C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000475446|processed_transcript|3/3|n.346+14C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000432198|protein_coding|4/4|c.145+14C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000447208|protein_coding|4/9|c.145+14C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000411907|processed_transcript|3/5|n.250+14C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000398042|protein_coding|3/6|c.145+14C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|3/7|n.268+14C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450664|protein_coding|3/6|c.145+14C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|3/8|n.145+14C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000432883|protein_coding|3/6|c.145+14C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000327374|protein_coding|3/8|c.145+14C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000479679|processed_transcript|3/5|n.309+14C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000430807|nonsense_mediated_decay|3/6|n.145+14C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434168|protein_coding|3/7|c.145+14C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000462579|retained_intron|2/4|n.185+14C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434570|protein_coding|2/5|c.268+14C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000420290|protein_coding|2/6|c.-35+14C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000444651|nonsense_mediated_decay|2/5|n.145+14C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000484373|retained_intron|2/3|n.184+14C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000485715|processed_transcript|2/5|n.184+14C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000456048|protein_coding|2/7|c.160+14C>T|||||| 22 20031016 . G C . . ANN=C|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000401833|protein_coding|3/8|c.268+50G>C||||||,C|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000471707|retained_intron|3/4|n.363+50G>C||||||,C|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000401886|protein_coding|3/6|c.145+50G>C||||||,C|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000475446|processed_transcript|3/3|n.346+50G>C||||||,C|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000432198|protein_coding|4/4|c.145+50G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000447208|protein_coding|4/9|c.145+50G>C||||||,C|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000411907|processed_transcript|3/5|n.250+50G>C||||||,C|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000398042|protein_coding|3/6|c.145+50G>C||||||,C|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|3/7|n.268+50G>C||||||,C|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450664|protein_coding|3/6|c.145+50G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|3/8|n.145+50G>C||||||,C|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000432883|protein_coding|3/6|c.145+50G>C||||||,C|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000327374|protein_coding|3/8|c.145+50G>C||||||,C|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000479679|processed_transcript|3/5|n.309+50G>C||||||,C|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000430807|nonsense_mediated_decay|3/6|n.145+50G>C||||||,C|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434168|protein_coding|3/7|c.145+50G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000462579|retained_intron|2/4|n.185+50G>C||||||,C|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434570|protein_coding|2/5|c.268+50G>C||||||,C|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000420290|protein_coding|2/6|c.-35+50G>C||||||,C|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000444651|nonsense_mediated_decay|2/5|n.145+50G>C||||||,C|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000484373|retained_intron|2/3|n.184+50G>C||||||,C|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000485715|processed_transcript|2/5|n.184+50G>C||||||,C|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000456048|protein_coding|2/7|c.160+50G>C|||||| 22 20041022 . T A . . ANN=A|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000401833|protein_coding|5/9|c.451T>A|p.Ser151Thr|715/1920|451/954|151/317||,A|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000447208|protein_coding|6/10|c.328T>A|p.Ser110Thr|648/1496|328/831|110/276||,A|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000450664|protein_coding|5/7|c.328T>A|p.Ser110Thr|400/570|328/496|110/164||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000327374|protein_coding|5/9|c.328T>A|p.Ser110Thr|506/2273|328/831|110/276||,A|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000434168|protein_coding|5/8|c.328T>A|p.Ser110Thr|511/862|328/679|110/225||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000434570|protein_coding|4/6|c.451T>A|p.Ser151Thr|608/883|451/597|151/198||,A|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000456048|protein_coding|4/8|c.343T>A|p.Ser115Thr|343/2108|343/846|115/281||,A|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|5/9|n.*39T>A|||||39|,A|upstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490121|processed_transcript||n.-1T>A|||||2444|,A|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000432198|protein_coding||c.*585T>A|||||915|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000471707|retained_intron|4/4|n.483+915T>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000401886|protein_coding|4/6|c.265+915T>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000411907|processed_transcript|4/5|n.370+915T>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000398042|protein_coding|4/6|c.265+915T>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|4/7|n.388+915T>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000432883|protein_coding|4/6|c.265+915T>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000430807|nonsense_mediated_decay|4/6|n.265+915T>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000462579|retained_intron|3/4|n.305+915T>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000420290|protein_coding|3/6|c.86+915T>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000444651|nonsense_mediated_decay|3/5|n.265+915T>A||||||,A|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|5/9|n.*39T>A||||||,A|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000479679|processed_transcript|6/6|n.851T>A||||||,A|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000484373|retained_intron|4/4|n.367T>A||||||,A|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000485715|processed_transcript|4/6|n.367T>A||||||,A|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490583|processed_transcript|1/5|n.65T>A|||||| 22 20041023 . C T . . ANN=T|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000401833|protein_coding|5/9|c.452C>T|p.Ser151Phe|716/1920|452/954|151/317||,T|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000447208|protein_coding|6/10|c.329C>T|p.Ser110Phe|649/1496|329/831|110/276||,T|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000450664|protein_coding|5/7|c.329C>T|p.Ser110Phe|401/570|329/496|110/164||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000327374|protein_coding|5/9|c.329C>T|p.Ser110Phe|507/2273|329/831|110/276||,T|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000434168|protein_coding|5/8|c.329C>T|p.Ser110Phe|512/862|329/679|110/225||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000434570|protein_coding|4/6|c.452C>T|p.Ser151Phe|609/883|452/597|151/198||,T|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000456048|protein_coding|4/8|c.344C>T|p.Ser115Phe|344/2108|344/846|115/281||,T|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|5/9|n.*40C>T|||||40|,T|upstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490121|processed_transcript||n.-1C>T|||||2443|,T|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000432198|protein_coding||c.*585C>T|||||916|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000471707|retained_intron|4/4|n.483+916C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000401886|protein_coding|4/6|c.265+916C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000411907|processed_transcript|4/5|n.370+916C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000398042|protein_coding|4/6|c.265+916C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|4/7|n.388+916C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000432883|protein_coding|4/6|c.265+916C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000430807|nonsense_mediated_decay|4/6|n.265+916C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000462579|retained_intron|3/4|n.305+916C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000420290|protein_coding|3/6|c.86+916C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000444651|nonsense_mediated_decay|3/5|n.265+916C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|5/9|n.*40C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000479679|processed_transcript|6/6|n.852C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000484373|retained_intron|4/4|n.368C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000485715|processed_transcript|4/6|n.368C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490583|processed_transcript|1/5|n.66C>T|||||| 22 20041098 . C T . . ANN=T|upstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490121|processed_transcript||n.-1C>T|||||2368|,T|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000432198|protein_coding||c.*585C>T|||||991|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000479679|processed_transcript||n.*894C>T|||||33|,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000401833|protein_coding|5/8|c.503+24C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000471707|retained_intron|4/4|n.483+991C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000401886|protein_coding|4/6|c.265+991C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000447208|protein_coding|6/9|c.380+24C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000411907|processed_transcript|4/5|n.370+991C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000398042|protein_coding|4/6|c.265+991C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|4/7|n.388+991C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450664|protein_coding|5/6|c.380+24C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|5/8|n.*91+24C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000432883|protein_coding|4/6|c.265+991C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000327374|protein_coding|5/8|c.380+24C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000430807|nonsense_mediated_decay|4/6|n.265+991C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434168|protein_coding|5/7|c.380+24C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000462579|retained_intron|3/4|n.305+991C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434570|protein_coding|4/5|c.503+24C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000420290|protein_coding|3/6|c.86+991C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000444651|nonsense_mediated_decay|3/5|n.265+991C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000485715|processed_transcript|4/5|n.419+24C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000456048|protein_coding|4/7|c.395+24C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490583|processed_transcript|1/4|n.117+24C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000484373|retained_intron|4/4|n.443C>T|||||| 22 20041119 . C CG . . ANN=G|upstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490121|processed_transcript||n.-1_-1insG|||||2346|,G|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000432198|protein_coding||c.*585_*585insG|||||1013|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000479679|processed_transcript||n.*894_*894insG|||||55|,G|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000401833|protein_coding|5/8|c.503+50dupG||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000471707|retained_intron|4/4|n.483+1017dupG||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000401886|protein_coding|4/6|c.265+1017dupG||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000447208|protein_coding|6/9|c.380+50dupG||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000411907|processed_transcript|4/5|n.370+1017dupG||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000398042|protein_coding|4/6|c.265+1017dupG||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|4/7|n.388+1017dupG||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450664|protein_coding|5/6|c.380+50dupG||||||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|5/8|n.*91+50dupG||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000432883|protein_coding|4/6|c.265+1017dupG||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000327374|protein_coding|5/8|c.380+50dupG||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000430807|nonsense_mediated_decay|4/6|n.265+1017dupG||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434168|protein_coding|5/7|c.380+50dupG||||||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000462579|retained_intron|3/4|n.305+1017dupG||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434570|protein_coding|4/5|c.503+50dupG||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000420290|protein_coding|3/6|c.86+1017dupG||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000444651|nonsense_mediated_decay|3/5|n.265+1017dupG||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000485715|processed_transcript|4/5|n.419+50dupG||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000456048|protein_coding|4/7|c.395+50dupG||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490583|processed_transcript|1/4|n.117+50dupG||||||INFO_REALIGN_3_PRIME,G|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000484373|retained_intron|4/4|n.469dupG||||||INFO_REALIGN_3_PRIME 22 20043423 . G A . . ANN=A|upstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490121|processed_transcript||n.-1G>A|||||43|,A|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000432198|protein_coding||c.*585G>A|||||3316|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000479679|processed_transcript||n.*894G>A|||||2358|,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000401833|protein_coding|5/8|c.504-43G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000471707|retained_intron|4/4|n.484-43G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000401886|protein_coding|4/6|c.265+3316G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000447208|protein_coding|6/9|c.381-43G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000411907|processed_transcript|4/5|n.371-43G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000398042|protein_coding|4/6|c.265+3316G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|4/7|n.389-43G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450664|protein_coding|5/6|c.381-43G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|5/8|n.*92-43G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000432883|protein_coding|4/6|c.265+3316G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000327374|protein_coding|5/8|c.381-43G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000430807|nonsense_mediated_decay|4/6|n.266-43G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434168|protein_coding|5/7|c.381-43G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000462579|retained_intron|3/4|n.306-43G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434570|protein_coding|4/5|c.504-43G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000420290|protein_coding|3/6|c.87-43G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000444651|nonsense_mediated_decay|3/5|n.266-43G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000485715|processed_transcript|4/5|n.419+2349G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000456048|protein_coding|4/7|c.396-43G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490583|processed_transcript|1/4|n.118-43G>A||||||,A|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000484373|retained_intron|4/4|n.2768G>A|||||| 22 20043426 . C T . . ANN=T|upstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490121|processed_transcript||n.-1C>T|||||40|,T|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000432198|protein_coding||c.*585C>T|||||3319|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000479679|processed_transcript||n.*894C>T|||||2361|,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000401833|protein_coding|5/8|c.504-40C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000471707|retained_intron|4/4|n.484-40C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000401886|protein_coding|4/6|c.265+3319C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000447208|protein_coding|6/9|c.381-40C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000411907|processed_transcript|4/5|n.371-40C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000398042|protein_coding|4/6|c.265+3319C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|4/7|n.389-40C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450664|protein_coding|5/6|c.381-40C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|5/8|n.*92-40C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000432883|protein_coding|4/6|c.265+3319C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000327374|protein_coding|5/8|c.381-40C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000430807|nonsense_mediated_decay|4/6|n.266-40C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434168|protein_coding|5/7|c.381-40C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000462579|retained_intron|3/4|n.306-40C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434570|protein_coding|4/5|c.504-40C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000420290|protein_coding|3/6|c.87-40C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000444651|nonsense_mediated_decay|3/5|n.266-40C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000485715|processed_transcript|4/5|n.419+2352C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000456048|protein_coding|4/7|c.396-40C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490583|processed_transcript|1/4|n.118-40C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000484373|retained_intron|4/4|n.2771C>T|||||| 22 20043504 . G A . . ANN=A|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000401833|protein_coding|6/9|c.542G>A|p.Arg181Gln|806/1920|542/954|181/317||,A|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000447208|protein_coding|7/10|c.419G>A|p.Arg140Gln|739/1496|419/831|140/276||,A|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000450664|protein_coding|6/7|c.419G>A|p.Arg140Gln|491/570|419/496|140/164||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000327374|protein_coding|6/9|c.419G>A|p.Arg140Gln|597/2273|419/831|140/276||,A|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000434168|protein_coding|6/8|c.419G>A|p.Arg140Gln|602/862|419/679|140/225||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000434570|protein_coding|5/6|c.542G>A|p.Arg181Gln|699/883|542/597|181/198||,A|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000420290|protein_coding|4/7|c.125G>A|p.Arg42Gln|344/931|125/537|42/178||,A|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000456048|protein_coding|5/8|c.434G>A|p.Arg145Gln|434/2108|434/846|145/281||,A|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|6/9|n.*130G>A|||||2521|,A|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000432198|protein_coding||c.*585G>A|||||3397|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000479679|processed_transcript||n.*894G>A|||||2439|,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000401886|protein_coding|4/6|c.265+3397G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000398042|protein_coding|4/6|c.265+3397G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000432883|protein_coding|4/6|c.265+3397G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000485715|processed_transcript|4/5|n.419+2430G>A||||||,A|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000471707|retained_intron|5/5|n.522G>A||||||,A|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000411907|processed_transcript|5/6|n.409G>A||||||,A|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|5/8|n.427G>A||||||,A|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|6/9|n.*130G>A||||||,A|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000430807|nonsense_mediated_decay|5/7|n.304G>A||||||,A|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000462579|retained_intron|4/5|n.344G>A||||||,A|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000444651|nonsense_mediated_decay|4/6|n.304G>A||||||,A|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000484373|retained_intron|4/4|n.2849G>A||||||,A|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490583|processed_transcript|2/5|n.156G>A||||||,A|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490121|processed_transcript|1/2|n.39G>A|||||| 22 20043570 . G A . . ANN=A|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000432198|protein_coding||c.*585G>A|||||3463|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000479679|processed_transcript||n.*894G>A|||||2505|,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000401833|protein_coding|6/8|c.574+34G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000401886|protein_coding|4/6|c.265+3463G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000447208|protein_coding|7/9|c.451+34G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000411907|processed_transcript|5/5|n.441+34G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000398042|protein_coding|4/6|c.265+3463G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|5/7|n.*6+34G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450664|protein_coding|6/6|c.451+34G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|6/8|n.*162+34G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000432883|protein_coding|4/6|c.265+3463G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000327374|protein_coding|6/8|c.451+34G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000430807|nonsense_mediated_decay|5/6|n.*6+34G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434168|protein_coding|6/7|c.451+34G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000462579|retained_intron|4/4|n.376+34G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434570|protein_coding|5/5|c.574+34G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000420290|protein_coding|4/6|c.157+34G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000444651|nonsense_mediated_decay|4/5|n.*6+34G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000485715|processed_transcript|4/5|n.419+2496G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000456048|protein_coding|5/7|c.466+34G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490583|processed_transcript|2/4|n.188+34G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490121|processed_transcript|1/1|n.71+34G>A||||||,A|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000471707|retained_intron|5/5|n.588G>A||||||,A|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000484373|retained_intron|4/4|n.2915G>A|||||| 22 20043582 . G A . . ANN=A|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000432198|protein_coding||c.*585G>A|||||3475|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000479679|processed_transcript||n.*894G>A|||||2517|,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000401833|protein_coding|6/8|c.574+46G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000401886|protein_coding|4/6|c.265+3475G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000447208|protein_coding|7/9|c.451+46G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000411907|processed_transcript|5/5|n.441+46G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000398042|protein_coding|4/6|c.265+3475G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|5/7|n.*6+46G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450664|protein_coding|6/6|c.451+46G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|6/8|n.*162+46G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000432883|protein_coding|4/6|c.265+3475G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000327374|protein_coding|6/8|c.451+46G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000430807|nonsense_mediated_decay|5/6|n.*6+46G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434168|protein_coding|6/7|c.451+46G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000462579|retained_intron|4/4|n.376+46G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434570|protein_coding|5/5|c.574+46G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000420290|protein_coding|4/6|c.157+46G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000444651|nonsense_mediated_decay|4/5|n.*6+46G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000485715|processed_transcript|4/5|n.419+2508G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000456048|protein_coding|5/7|c.466+46G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490583|processed_transcript|2/4|n.188+46G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490121|processed_transcript|1/1|n.71+46G>A||||||,A|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000471707|retained_intron|5/5|n.600G>A||||||,A|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000484373|retained_intron|4/4|n.2927G>A|||||| 22 20049028 . A G . . ANN=G|upstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000476940|processed_transcript||n.-1A>G|||||2068|,G|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000601746|antisense||n.*930T>C|||||1506|,G|downstream_gene_variant|MODIFIER|AC006547.15|ENSG00000268292|transcript|ENST00000600090|antisense||n.*583T>C|||||3047|,G|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490121|processed_transcript||n.*125A>G|||||278|,G|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000415503|antisense||n.*508T>C|||||1475|,G|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000608610|antisense||n.*831T>C|||||1506|,G|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000600937|antisense||n.*631T>C|||||1506|,G|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000595864|antisense||n.*666T>C|||||1506|,G|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000596334|antisense||n.*701T>C|||||1506|,G|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000600617|antisense||n.*878T>C|||||1506|,G|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000598339|antisense||n.*805T>C|||||1506|,G|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000609644|antisense||n.*589T>C|||||1529|,G|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000609191|antisense||n.*828T>C|||||1529|,G|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000401833|protein_coding|6/8|c.575-25A>G||||||,G|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000401886|protein_coding|4/6|c.266-25A>G||||||,G|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000447208|protein_coding|7/9|c.452-25A>G||||||,G|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000411907|processed_transcript|5/5|n.442-25A>G||||||,G|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000398042|protein_coding|4/6|c.266-25A>G||||||,G|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|5/7|n.*7-25A>G||||||,G|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450664|protein_coding|6/6|c.452-25A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|6/8|n.*163-25A>G||||||,G|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000432883|protein_coding|4/6|c.266-25A>G||||||,G|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000327374|protein_coding|6/8|c.452-25A>G||||||,G|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000430807|nonsense_mediated_decay|5/6|n.*7-25A>G||||||,G|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434168|protein_coding|6/7|c.452-25A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000462579|retained_intron|4/4|n.377-25A>G||||||,G|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434570|protein_coding|5/5|c.575-3037A>G||||||,G|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000420290|protein_coding|4/6|c.158-25A>G||||||,G|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000444651|nonsense_mediated_decay|4/5|n.*7-1833A>G||||||,G|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000485715|processed_transcript|4/5|n.420-25A>G||||||,G|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000456048|protein_coding|5/7|c.467-25A>G||||||,G|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490583|processed_transcript|2/4|n.189-25A>G|||||| 22 20049118 . C T . . ANN=T|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000401833|protein_coding|7/9|c.640C>T|p.Leu214Phe|904/1920|640/954|214/317||,T|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000401886|protein_coding|5/7|c.331C>T|p.Leu111Phe|549/1559|331/645|111/214||,T|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000447208|protein_coding|8/10|c.517C>T|p.Leu173Phe|837/1496|517/831|173/276||,T|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000398042|protein_coding|5/7|c.331C>T|p.Leu111Phe|433/2011|331/645|111/214||,T|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000432883|protein_coding|5/7|c.331C>T|p.Leu111Phe|509/2085|331/645|111/214||,T|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000327374|protein_coding|7/9|c.517C>T|p.Leu173Phe|695/2273|517/831|173/276||,T|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000434168|protein_coding|7/8|c.517C>T|p.Leu173Phe|700/862|517/679|173/225||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000420290|protein_coding|5/7|c.223C>T|p.Leu75Phe|442/931|223/537|75/178||,T|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000456048|protein_coding|6/8|c.532C>T|p.Leu178Phe|532/2108|532/846|178/281||,T|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|6/8|n.*72C>T|||||5588|,T|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|7/9|n.*228C>T|||||8135|,T|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000430807|nonsense_mediated_decay|6/7|n.*72C>T|||||5588|,T|upstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000476940|processed_transcript||n.-1C>T|||||1978|,T|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000601746|antisense||n.*930G>A|||||1416|,T|downstream_gene_variant|MODIFIER|AC006547.15|ENSG00000268292|transcript|ENST00000600090|antisense||n.*583G>A|||||2957|,T|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450664|protein_coding||c.*568C>T|||||19|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490121|processed_transcript||n.*125C>T|||||368|,T|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000415503|antisense||n.*508G>A|||||1385|,T|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000608610|antisense||n.*831G>A|||||1416|,T|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000600937|antisense||n.*631G>A|||||1416|,T|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000595864|antisense||n.*666G>A|||||1416|,T|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000596334|antisense||n.*701G>A|||||1416|,T|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000600617|antisense||n.*878G>A|||||1416|,T|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000598339|antisense||n.*805G>A|||||1416|,T|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000609644|antisense||n.*589G>A|||||1439|,T|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000609191|antisense||n.*828G>A|||||1439|,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434570|protein_coding|5/5|c.575-2947C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000444651|nonsense_mediated_decay|4/5|n.*7-1743C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000411907|processed_transcript|6/6|n.507C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|6/8|n.*72C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|7/9|n.*228C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000430807|nonsense_mediated_decay|6/7|n.*72C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000462579|retained_intron|5/5|n.442C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000485715|processed_transcript|5/6|n.485C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490583|processed_transcript|3/5|n.254C>T|||||| 22 20049131 . C T . . ANN=T|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000401833|protein_coding|7/9|c.653C>T|p.Ala218Val|917/1920|653/954|218/317||,T|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000401886|protein_coding|5/7|c.344C>T|p.Ala115Val|562/1559|344/645|115/214||,T|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000447208|protein_coding|8/10|c.530C>T|p.Ala177Val|850/1496|530/831|177/276||,T|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000398042|protein_coding|5/7|c.344C>T|p.Ala115Val|446/2011|344/645|115/214||,T|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000432883|protein_coding|5/7|c.344C>T|p.Ala115Val|522/2085|344/645|115/214||,T|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000327374|protein_coding|7/9|c.530C>T|p.Ala177Val|708/2273|530/831|177/276||,T|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000434168|protein_coding|7/8|c.530C>T|p.Ala177Val|713/862|530/679|177/225||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000420290|protein_coding|5/7|c.236C>T|p.Ala79Val|455/931|236/537|79/178||,T|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000456048|protein_coding|6/8|c.545C>T|p.Ala182Val|545/2108|545/846|182/281||,T|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|6/8|n.*85C>T|||||5601|,T|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|7/9|n.*241C>T|||||8148|,T|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000430807|nonsense_mediated_decay|6/7|n.*85C>T|||||5601|,T|upstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000476940|processed_transcript||n.-1C>T|||||1965|,T|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000601746|antisense||n.*930G>A|||||1403|,T|downstream_gene_variant|MODIFIER|AC006547.15|ENSG00000268292|transcript|ENST00000600090|antisense||n.*583G>A|||||2944|,T|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450664|protein_coding||c.*568C>T|||||32|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490121|processed_transcript||n.*125C>T|||||381|,T|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000415503|antisense||n.*508G>A|||||1372|,T|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000608610|antisense||n.*831G>A|||||1403|,T|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000600937|antisense||n.*631G>A|||||1403|,T|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000595864|antisense||n.*666G>A|||||1403|,T|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000596334|antisense||n.*701G>A|||||1403|,T|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000600617|antisense||n.*878G>A|||||1403|,T|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000598339|antisense||n.*805G>A|||||1403|,T|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000609644|antisense||n.*589G>A|||||1426|,T|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000609191|antisense||n.*828G>A|||||1426|,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434570|protein_coding|5/5|c.575-2934C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000444651|nonsense_mediated_decay|4/5|n.*7-1730C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000411907|processed_transcript|6/6|n.520C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|6/8|n.*85C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|7/9|n.*241C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000430807|nonsense_mediated_decay|6/7|n.*85C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000462579|retained_intron|5/5|n.455C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000485715|processed_transcript|5/6|n.498C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490583|processed_transcript|3/5|n.267C>T|||||| 22 20049244 . C T . . ANN=T|upstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000476940|processed_transcript||n.-1C>T|||||1852|,T|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000601746|antisense||n.*930G>A|||||1290|,T|downstream_gene_variant|MODIFIER|AC006547.15|ENSG00000268292|transcript|ENST00000600090|antisense||n.*583G>A|||||2831|,T|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000411907|processed_transcript||n.*568C>T|||||65|,T|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450664|protein_coding||c.*568C>T|||||145|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490121|processed_transcript||n.*125C>T|||||494|,T|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000415503|antisense||n.*508G>A|||||1259|,T|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000608610|antisense||n.*831G>A|||||1290|,T|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000600937|antisense||n.*631G>A|||||1290|,T|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000595864|antisense||n.*666G>A|||||1290|,T|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000596334|antisense||n.*701G>A|||||1290|,T|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000600617|antisense||n.*878G>A|||||1290|,T|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000598339|antisense||n.*805G>A|||||1290|,T|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000609644|antisense||n.*589G>A|||||1313|,T|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000609191|antisense||n.*828G>A|||||1313|,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000401833|protein_coding|7/8|c.728+38C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000401886|protein_coding|5/6|c.419+38C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000447208|protein_coding|8/9|c.605+38C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000398042|protein_coding|5/6|c.419+38C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|6/7|n.*160+38C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|7/8|n.*316+38C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000432883|protein_coding|5/6|c.419+38C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000327374|protein_coding|7/8|c.605+38C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000430807|nonsense_mediated_decay|6/6|n.*160+38C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434168|protein_coding|7/7|c.605+38C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434570|protein_coding|5/5|c.575-2821C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000420290|protein_coding|5/6|c.311+38C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000444651|nonsense_mediated_decay|4/5|n.*7-1617C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000485715|processed_transcript|5/5|n.571+40C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000456048|protein_coding|6/7|c.620+38C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490583|processed_transcript|3/4|n.365+15C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000462579|retained_intron|5/5|n.568C>T|||||| 22 20050815 . C T . . ANN=T|upstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000476940|processed_transcript||n.-1C>T|||||281|,T|downstream_gene_variant|MODIFIER|AC006547.15|ENSG00000268292|transcript|ENST00000600090|antisense||n.*583G>A|||||1260|,T|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000411907|processed_transcript||n.*568C>T|||||1636|,T|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450664|protein_coding||c.*568C>T|||||1716|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000462579|retained_intron||n.*649C>T|||||1490|,T|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490121|processed_transcript||n.*125C>T|||||2065|,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000401833|protein_coding|7/8|c.729-46C>T||||||,T|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000601746|antisense|3/3|n.788-139G>A||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000401886|protein_coding|5/6|c.420-46C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000447208|protein_coding|8/9|c.606-46C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000398042|protein_coding|5/6|c.420-46C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|6/7|n.*161-46C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|7/8|n.*317-46C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000432883|protein_coding|5/6|c.420-46C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000327374|protein_coding|7/8|c.606-46C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000430807|nonsense_mediated_decay|6/6|n.*161-46C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434168|protein_coding|7/7|c.606-46C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434570|protein_coding|5/5|c.575-1250C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000420290|protein_coding|5/6|c.312-46C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000444651|nonsense_mediated_decay|4/5|n.*7-46C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000485715|processed_transcript|5/5|n.572-46C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000456048|protein_coding|6/7|c.621-46C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490583|processed_transcript|3/4|n.366-46C>T||||||,T|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000415503|antisense|2/2|n.335-139G>A||||||,T|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000608610|antisense|2/2|n.692-142G>A||||||,T|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000600937|antisense|3/3|n.492-142G>A||||||,T|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000595864|antisense|3/3|n.549-164G>A||||||,T|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000596334|antisense|3/3|n.562-142G>A||||||,T|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000600617|antisense|3/3|n.742-145G>A||||||,T|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000598339|antisense|2/2|n.688-164G>A||||||,T|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000609644|antisense|3/3|n.495-164G>A||||||,T|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000609191|antisense|2/2|n.709-139G>A|||||| 22 20050883 . G A . . ANN=A|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000401833|protein_coding|8/9|c.751G>A|p.Glu251Lys|1015/1920|751/954|251/317||,A|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000401886|protein_coding|6/7|c.442G>A|p.Glu148Lys|660/1559|442/645|148/214||,A|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000447208|protein_coding|9/10|c.628G>A|p.Glu210Lys|948/1496|628/831|210/276||,A|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000398042|protein_coding|6/7|c.442G>A|p.Glu148Lys|544/2011|442/645|148/214||,A|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000432883|protein_coding|6/7|c.442G>A|p.Glu148Lys|620/2085|442/645|148/214||,A|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000327374|protein_coding|8/9|c.628G>A|p.Glu210Lys|806/2273|628/831|210/276||,A|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000434168|protein_coding|8/8|c.628G>A|p.Glu210Lys|811/862|628/679|210/225||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000420290|protein_coding|6/7|c.334G>A|p.Glu112Lys|553/931|334/537|112/178||,A|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000456048|protein_coding|7/8|c.643G>A|p.Glu215Lys|643/2108|643/846|215/281||,A|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|7/8|n.*183G>A|||||7353|,A|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|8/9|n.*339G>A|||||9900|,A|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000430807|nonsense_mediated_decay|7/7|n.*183G>A|||||7353|,A|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000444651|nonsense_mediated_decay|5/6|n.*29G>A|||||7353|,A|upstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000476940|processed_transcript||n.-1G>A|||||213|,A|downstream_gene_variant|MODIFIER|AC006547.15|ENSG00000268292|transcript|ENST00000600090|antisense||n.*583C>T|||||1192|,A|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000411907|processed_transcript||n.*568G>A|||||1704|,A|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450664|protein_coding||c.*568G>A|||||1784|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000462579|retained_intron||n.*649G>A|||||1558|,A|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490121|processed_transcript||n.*125G>A|||||2133|,A|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000601746|antisense|3/3|n.788-207C>T||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434570|protein_coding|5/5|c.575-1182G>A||||||,A|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000415503|antisense|2/2|n.335-207C>T||||||,A|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000608610|antisense|2/2|n.692-210C>T||||||,A|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000600937|antisense|3/3|n.492-210C>T||||||,A|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000595864|antisense|3/3|n.549-232C>T||||||,A|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000596334|antisense|3/3|n.562-210C>T||||||,A|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000600617|antisense|3/3|n.742-213C>T||||||,A|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000598339|antisense|2/2|n.688-232C>T||||||,A|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000609644|antisense|3/3|n.495-232C>T||||||,A|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000609191|antisense|2/2|n.709-207C>T||||||,A|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|7/8|n.*183G>A||||||,A|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|8/9|n.*339G>A||||||,A|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000430807|nonsense_mediated_decay|7/7|n.*183G>A||||||,A|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000444651|nonsense_mediated_decay|5/6|n.*29G>A||||||,A|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000485715|processed_transcript|6/6|n.594G>A||||||,A|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490583|processed_transcript|4/5|n.388G>A|||||| 22 20050886 . G C . . ANN=C|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000401833|protein_coding|8/9|c.754G>C|p.Asp252His|1018/1920|754/954|252/317||,C|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000401886|protein_coding|6/7|c.445G>C|p.Asp149His|663/1559|445/645|149/214||,C|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000447208|protein_coding|9/10|c.631G>C|p.Asp211His|951/1496|631/831|211/276||,C|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000398042|protein_coding|6/7|c.445G>C|p.Asp149His|547/2011|445/645|149/214||,C|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000432883|protein_coding|6/7|c.445G>C|p.Asp149His|623/2085|445/645|149/214||,C|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000327374|protein_coding|8/9|c.631G>C|p.Asp211His|809/2273|631/831|211/276||,C|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000434168|protein_coding|8/8|c.631G>C|p.Asp211His|814/862|631/679|211/225||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000420290|protein_coding|6/7|c.337G>C|p.Asp113His|556/931|337/537|113/178||,C|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000456048|protein_coding|7/8|c.646G>C|p.Asp216His|646/2108|646/846|216/281||,C|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|7/8|n.*186G>C|||||7356|,C|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|8/9|n.*342G>C|||||9903|,C|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000430807|nonsense_mediated_decay|7/7|n.*186G>C|||||7356|,C|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000444651|nonsense_mediated_decay|5/6|n.*32G>C|||||7356|,C|upstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000476940|processed_transcript||n.-1G>C|||||210|,C|downstream_gene_variant|MODIFIER|AC006547.15|ENSG00000268292|transcript|ENST00000600090|antisense||n.*583C>G|||||1189|,C|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000411907|processed_transcript||n.*568G>C|||||1707|,C|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450664|protein_coding||c.*568G>C|||||1787|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000462579|retained_intron||n.*649G>C|||||1561|,C|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490121|processed_transcript||n.*125G>C|||||2136|,C|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000601746|antisense|3/3|n.788-210C>G||||||,C|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434570|protein_coding|5/5|c.575-1179G>C||||||,C|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000415503|antisense|2/2|n.335-210C>G||||||,C|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000608610|antisense|2/2|n.692-213C>G||||||,C|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000600937|antisense|3/3|n.492-213C>G||||||,C|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000595864|antisense|3/3|n.549-235C>G||||||,C|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000596334|antisense|3/3|n.562-213C>G||||||,C|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000600617|antisense|3/3|n.742-216C>G||||||,C|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000598339|antisense|2/2|n.688-235C>G||||||,C|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000609644|antisense|3/3|n.495-235C>G||||||,C|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000609191|antisense|2/2|n.709-210C>G||||||,C|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|7/8|n.*186G>C||||||,C|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|8/9|n.*342G>C||||||,C|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000430807|nonsense_mediated_decay|7/7|n.*186G>C||||||,C|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000444651|nonsense_mediated_decay|5/6|n.*32G>C||||||,C|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000485715|processed_transcript|6/6|n.597G>C||||||,C|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490583|processed_transcript|4/5|n.391G>C|||||| 22 20050957 . C T . . ANN=T|synonymous_variant|LOW|TANGO2|ENSG00000183597|transcript|ENST00000401833|protein_coding|8/9|c.825C>T|p.Tyr275Tyr|1089/1920|825/954|275/317||,T|synonymous_variant|LOW|TANGO2|ENSG00000183597|transcript|ENST00000401886|protein_coding|6/7|c.516C>T|p.Tyr172Tyr|734/1559|516/645|172/214||,T|synonymous_variant|LOW|TANGO2|ENSG00000183597|transcript|ENST00000447208|protein_coding|9/10|c.702C>T|p.Tyr234Tyr|1022/1496|702/831|234/276||,T|synonymous_variant|LOW|TANGO2|ENSG00000183597|transcript|ENST00000398042|protein_coding|6/7|c.516C>T|p.Tyr172Tyr|618/2011|516/645|172/214||,T|synonymous_variant|LOW|TANGO2|ENSG00000183597|transcript|ENST00000432883|protein_coding|6/7|c.516C>T|p.Tyr172Tyr|694/2085|516/645|172/214||,T|synonymous_variant|LOW|TANGO2|ENSG00000183597|transcript|ENST00000327374|protein_coding|8/9|c.702C>T|p.Tyr234Tyr|880/2273|702/831|234/276||,T|synonymous_variant|LOW|TANGO2|ENSG00000183597|transcript|ENST00000420290|protein_coding|6/7|c.408C>T|p.Tyr136Tyr|627/931|408/537|136/178||,T|synonymous_variant|LOW|TANGO2|ENSG00000183597|transcript|ENST00000456048|protein_coding|7/8|c.717C>T|p.Tyr239Tyr|717/2108|717/846|239/281||,T|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|7/8|n.*257C>T|||||7427|,T|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|8/9|n.*413C>T|||||9974|,T|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000444651|nonsense_mediated_decay|5/6|n.*103C>T|||||7427|,T|upstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000476940|processed_transcript||n.-1C>T|||||139|,T|downstream_gene_variant|MODIFIER|AC006547.15|ENSG00000268292|transcript|ENST00000600090|antisense||n.*583G>A|||||1118|,T|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000411907|processed_transcript||n.*568C>T|||||1778|,T|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450664|protein_coding||c.*568C>T|||||1858|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000430807|nonsense_mediated_decay||n.*489C>T|||||13|,T|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434168|protein_coding||c.*862C>T|||||23|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000462579|retained_intron||n.*649C>T|||||1632|,T|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000485715|processed_transcript||n.*617C>T|||||51|,T|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490121|processed_transcript||n.*125C>T|||||2207|,T|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000601746|antisense|3/3|n.788-281G>A||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434570|protein_coding|5/5|c.575-1108C>T||||||,T|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000415503|antisense|2/2|n.335-281G>A||||||,T|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000608610|antisense|2/2|n.692-284G>A||||||,T|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000600937|antisense|3/3|n.492-284G>A||||||,T|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000595864|antisense|3/3|n.549-306G>A||||||,T|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000596334|antisense|3/3|n.562-284G>A||||||,T|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000600617|antisense|3/3|n.742-287G>A||||||,T|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000598339|antisense|2/2|n.688-306G>A||||||,T|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000609644|antisense|3/3|n.495-306G>A||||||,T|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000609191|antisense|2/2|n.709-281G>A||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|7/8|n.*257C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|8/9|n.*413C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000444651|nonsense_mediated_decay|5/6|n.*103C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490583|processed_transcript|4/5|n.462C>T|||||| 22 20050979 . G A . . ANN=A|upstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000476940|processed_transcript||n.-1G>A|||||117|,A|downstream_gene_variant|MODIFIER|AC006547.15|ENSG00000268292|transcript|ENST00000600090|antisense||n.*583C>T|||||1096|,A|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000411907|processed_transcript||n.*568G>A|||||1800|,A|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450664|protein_coding||c.*568G>A|||||1880|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000430807|nonsense_mediated_decay||n.*489G>A|||||35|,A|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434168|protein_coding||c.*862G>A|||||45|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000462579|retained_intron||n.*649G>A|||||1654|,A|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000485715|processed_transcript||n.*617G>A|||||73|,A|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490121|processed_transcript||n.*125G>A|||||2229|,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000401833|protein_coding|8/8|c.833+14G>A||||||,A|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000601746|antisense|3/3|n.788-303C>T||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000401886|protein_coding|6/6|c.524+14G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000447208|protein_coding|9/9|c.710+14G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000398042|protein_coding|6/6|c.524+14G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|7/7|n.*265+14G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|8/8|n.*421+14G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000432883|protein_coding|6/6|c.524+14G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000327374|protein_coding|8/8|c.710+14G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434570|protein_coding|5/5|c.575-1086G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000420290|protein_coding|6/6|c.416+14G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000444651|nonsense_mediated_decay|5/5|n.*111+14G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000456048|protein_coding|7/7|c.725+14G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490583|processed_transcript|4/4|n.470+14G>A||||||,A|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000415503|antisense|2/2|n.335-303C>T||||||,A|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000608610|antisense|2/2|n.692-306C>T||||||,A|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000600937|antisense|3/3|n.492-306C>T||||||,A|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000595864|antisense|3/3|n.549-328C>T||||||,A|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000596334|antisense|3/3|n.562-306C>T||||||,A|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000600617|antisense|3/3|n.742-309C>T||||||,A|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000598339|antisense|2/2|n.688-328C>T||||||,A|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000609644|antisense|3/3|n.495-328C>T||||||,A|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000609191|antisense|2/2|n.709-303C>T|||||| 22 20052038 . T C . . ANN=C|downstream_gene_variant|MODIFIER|AC006547.15|ENSG00000268292|transcript|ENST00000600090|antisense||n.*583A>G|||||37|,C|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000411907|processed_transcript||n.*568T>C|||||2859|,C|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450664|protein_coding||c.*568T>C|||||2939|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000430807|nonsense_mediated_decay||n.*489T>C|||||1094|,C|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434168|protein_coding||c.*862T>C|||||1104|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000462579|retained_intron||n.*649T>C|||||2713|,C|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000485715|processed_transcript||n.*617T>C|||||1132|,C|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490121|processed_transcript||n.*125T>C|||||3288|,C|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000401833|protein_coding|8/8|c.834-27T>C||||||,C|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000601746|antisense|3/3|n.787+631A>G||||||,C|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000401886|protein_coding|6/6|c.525-27T>C||||||,C|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000447208|protein_coding|9/9|c.711-27T>C||||||,C|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000398042|protein_coding|6/6|c.525-27T>C||||||,C|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|7/7|n.*266-27T>C||||||,C|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|8/8|n.*422-27T>C||||||,C|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000432883|protein_coding|6/6|c.525-27T>C||||||,C|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000327374|protein_coding|8/8|c.711-27T>C||||||,C|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434570|protein_coding|5/5|c.575-27T>C||||||,C|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000420290|protein_coding|6/6|c.417-27T>C||||||,C|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000444651|nonsense_mediated_decay|5/5|n.*112-27T>C||||||,C|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000456048|protein_coding|7/7|c.726-27T>C||||||,C|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490583|processed_transcript|4/4|n.471-27T>C||||||,C|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000415503|antisense|2/2|n.334+631A>G||||||,C|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000608610|antisense|2/2|n.691+631A>G||||||,C|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000600937|antisense|3/3|n.491+631A>G||||||,C|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000595864|antisense|3/3|n.548+631A>G||||||,C|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000596334|antisense|3/3|n.561+631A>G||||||,C|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000600617|antisense|3/3|n.741+631A>G||||||,C|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000598339|antisense|2/2|n.687+631A>G||||||,C|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000609644|antisense|3/3|n.494+631A>G||||||,C|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000609191|antisense|2/2|n.708+631A>G||||||,C|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000476940|processed_transcript|1/1|n.27-27T>C|||||| 22 20052043 . G A . . ANN=A|downstream_gene_variant|MODIFIER|AC006547.15|ENSG00000268292|transcript|ENST00000600090|antisense||n.*583C>T|||||32|,A|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000411907|processed_transcript||n.*568G>A|||||2864|,A|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450664|protein_coding||c.*568G>A|||||2944|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000430807|nonsense_mediated_decay||n.*489G>A|||||1099|,A|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434168|protein_coding||c.*862G>A|||||1109|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000462579|retained_intron||n.*649G>A|||||2718|,A|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000485715|processed_transcript||n.*617G>A|||||1137|,A|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490121|processed_transcript||n.*125G>A|||||3293|,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000401833|protein_coding|8/8|c.834-22G>A||||||,A|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000601746|antisense|3/3|n.787+626C>T||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000401886|protein_coding|6/6|c.525-22G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000447208|protein_coding|9/9|c.711-22G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000398042|protein_coding|6/6|c.525-22G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|7/7|n.*266-22G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|8/8|n.*422-22G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000432883|protein_coding|6/6|c.525-22G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000327374|protein_coding|8/8|c.711-22G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434570|protein_coding|5/5|c.575-22G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000420290|protein_coding|6/6|c.417-22G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000444651|nonsense_mediated_decay|5/5|n.*112-22G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000456048|protein_coding|7/7|c.726-22G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490583|processed_transcript|4/4|n.471-22G>A||||||,A|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000415503|antisense|2/2|n.334+626C>T||||||,A|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000608610|antisense|2/2|n.691+626C>T||||||,A|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000600937|antisense|3/3|n.491+626C>T||||||,A|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000595864|antisense|3/3|n.548+626C>T||||||,A|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000596334|antisense|3/3|n.561+626C>T||||||,A|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000600617|antisense|3/3|n.741+626C>T||||||,A|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000598339|antisense|2/2|n.687+626C>T||||||,A|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000609644|antisense|3/3|n.494+626C>T||||||,A|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000609191|antisense|2/2|n.708+626C>T||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000476940|processed_transcript|1/1|n.27-22G>A|||||| 22 20052050 . C T . . ANN=T|downstream_gene_variant|MODIFIER|AC006547.15|ENSG00000268292|transcript|ENST00000600090|antisense||n.*583G>A|||||25|,T|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000411907|processed_transcript||n.*568C>T|||||2871|,T|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450664|protein_coding||c.*568C>T|||||2951|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000430807|nonsense_mediated_decay||n.*489C>T|||||1106|,T|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434168|protein_coding||c.*862C>T|||||1116|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000462579|retained_intron||n.*649C>T|||||2725|,T|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000485715|processed_transcript||n.*617C>T|||||1144|,T|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490121|processed_transcript||n.*125C>T|||||3300|,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000401833|protein_coding|8/8|c.834-15C>T||||||,T|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000601746|antisense|3/3|n.787+619G>A||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000401886|protein_coding|6/6|c.525-15C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000447208|protein_coding|9/9|c.711-15C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000398042|protein_coding|6/6|c.525-15C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|7/7|n.*266-15C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|8/8|n.*422-15C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000432883|protein_coding|6/6|c.525-15C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000327374|protein_coding|8/8|c.711-15C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434570|protein_coding|5/5|c.575-15C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000420290|protein_coding|6/6|c.417-15C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000444651|nonsense_mediated_decay|5/5|n.*112-15C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000456048|protein_coding|7/7|c.726-15C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490583|processed_transcript|4/4|n.471-15C>T||||||,T|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000415503|antisense|2/2|n.334+619G>A||||||,T|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000608610|antisense|2/2|n.691+619G>A||||||,T|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000600937|antisense|3/3|n.491+619G>A||||||,T|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000595864|antisense|3/3|n.548+619G>A||||||,T|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000596334|antisense|3/3|n.561+619G>A||||||,T|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000600617|antisense|3/3|n.741+619G>A||||||,T|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000598339|antisense|2/2|n.687+619G>A||||||,T|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000609644|antisense|3/3|n.494+619G>A||||||,T|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000609191|antisense|2/2|n.708+619G>A||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000476940|processed_transcript|1/1|n.27-15C>T|||||| 22 20052054 . C G . . ANN=G|downstream_gene_variant|MODIFIER|AC006547.15|ENSG00000268292|transcript|ENST00000600090|antisense||n.*583G>C|||||21|,G|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000411907|processed_transcript||n.*568C>G|||||2875|,G|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450664|protein_coding||c.*568C>G|||||2955|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000430807|nonsense_mediated_decay||n.*489C>G|||||1110|,G|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434168|protein_coding||c.*862C>G|||||1120|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000462579|retained_intron||n.*649C>G|||||2729|,G|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000485715|processed_transcript||n.*617C>G|||||1148|,G|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490121|processed_transcript||n.*125C>G|||||3304|,G|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000401833|protein_coding|8/8|c.834-11C>G||||||,G|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000601746|antisense|3/3|n.787+615G>C||||||,G|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000401886|protein_coding|6/6|c.525-11C>G||||||,G|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000447208|protein_coding|9/9|c.711-11C>G||||||,G|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000398042|protein_coding|6/6|c.525-11C>G||||||,G|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|7/7|n.*266-11C>G||||||,G|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|8/8|n.*422-11C>G||||||,G|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000432883|protein_coding|6/6|c.525-11C>G||||||,G|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000327374|protein_coding|8/8|c.711-11C>G||||||,G|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434570|protein_coding|5/5|c.575-11C>G||||||,G|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000420290|protein_coding|6/6|c.417-11C>G||||||,G|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000444651|nonsense_mediated_decay|5/5|n.*112-11C>G||||||,G|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000456048|protein_coding|7/7|c.726-11C>G||||||,G|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490583|processed_transcript|4/4|n.471-11C>G||||||,G|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000415503|antisense|2/2|n.334+615G>C||||||,G|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000608610|antisense|2/2|n.691+615G>C||||||,G|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000600937|antisense|3/3|n.491+615G>C||||||,G|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000595864|antisense|3/3|n.548+615G>C||||||,G|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000596334|antisense|3/3|n.561+615G>C||||||,G|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000600617|antisense|3/3|n.741+615G>C||||||,G|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000598339|antisense|2/2|n.687+615G>C||||||,G|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000609644|antisense|3/3|n.494+615G>C||||||,G|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000609191|antisense|2/2|n.708+615G>C||||||,G|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000476940|processed_transcript|1/1|n.27-11C>G|||||| 22 20052089 . T G . . ANN=G|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000401833|protein_coding|9/9|c.858T>G|p.Asp286Glu|1122/1920|858/954|286/317||,G|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000401886|protein_coding|7/7|c.549T>G|p.Asp183Glu|767/1559|549/645|183/214||,G|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000447208|protein_coding|10/10|c.735T>G|p.Asp245Glu|1055/1496|735/831|245/276||,G|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000398042|protein_coding|7/7|c.549T>G|p.Asp183Glu|651/2011|549/645|183/214||,G|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000432883|protein_coding|7/7|c.549T>G|p.Asp183Glu|727/2085|549/645|183/214||,G|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000327374|protein_coding|9/9|c.735T>G|p.Asp245Glu|913/2273|735/831|245/276||,G|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000420290|protein_coding|7/7|c.441T>G|p.Asp147Glu|660/931|441/537|147/178||,G|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000456048|protein_coding|8/8|c.750T>G|p.Asp250Glu|750/2108|750/846|250/281||,G|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|8/8|n.*290T>G|||||8559|,G|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|9/9|n.*446T>G|||||11106|,G|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434570|protein_coding|6/6|c.*2T>G|||||2|,G|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000444651|nonsense_mediated_decay|6/6|n.*136T>G|||||8559|,G|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000411907|processed_transcript||n.*568T>G|||||2910|,G|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450664|protein_coding||c.*568T>G|||||2990|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000430807|nonsense_mediated_decay||n.*489T>G|||||1145|,G|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434168|protein_coding||c.*862T>G|||||1155|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000462579|retained_intron||n.*649T>G|||||2764|,G|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000485715|processed_transcript||n.*617T>G|||||1183|,G|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490121|processed_transcript||n.*125T>G|||||3339|,G|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000601746|antisense|3/3|n.787+580A>C||||||,G|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000415503|antisense|2/2|n.334+580A>C||||||,G|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000608610|antisense|2/2|n.691+580A>C||||||,G|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000600937|antisense|3/3|n.491+580A>C||||||,G|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000595864|antisense|3/3|n.548+580A>C||||||,G|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000596334|antisense|3/3|n.561+580A>C||||||,G|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000600617|antisense|3/3|n.741+580A>C||||||,G|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000598339|antisense|2/2|n.687+580A>C||||||,G|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000609644|antisense|3/3|n.494+580A>C||||||,G|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000609191|antisense|2/2|n.708+580A>C||||||,G|non_coding_exon_variant|MODIFIER|AC006547.15|ENSG00000268292|transcript|ENST00000600090|antisense|2/2|n.569A>C||||||,G|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|8/8|n.*290T>G||||||,G|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|9/9|n.*446T>G||||||,G|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000444651|nonsense_mediated_decay|6/6|n.*136T>G||||||,G|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490583|processed_transcript|5/5|n.495T>G||||||,G|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000476940|processed_transcript|2/2|n.51T>G|||||| 22 20052092 . G A . . ANN=A|synonymous_variant|LOW|TANGO2|ENSG00000183597|transcript|ENST00000401833|protein_coding|9/9|c.861G>A|p.Ala287Ala|1125/1920|861/954|287/317||,A|synonymous_variant|LOW|TANGO2|ENSG00000183597|transcript|ENST00000401886|protein_coding|7/7|c.552G>A|p.Ala184Ala|770/1559|552/645|184/214||,A|synonymous_variant|LOW|TANGO2|ENSG00000183597|transcript|ENST00000447208|protein_coding|10/10|c.738G>A|p.Ala246Ala|1058/1496|738/831|246/276||,A|synonymous_variant|LOW|TANGO2|ENSG00000183597|transcript|ENST00000398042|protein_coding|7/7|c.552G>A|p.Ala184Ala|654/2011|552/645|184/214||,A|synonymous_variant|LOW|TANGO2|ENSG00000183597|transcript|ENST00000432883|protein_coding|7/7|c.552G>A|p.Ala184Ala|730/2085|552/645|184/214||,A|synonymous_variant|LOW|TANGO2|ENSG00000183597|transcript|ENST00000327374|protein_coding|9/9|c.738G>A|p.Ala246Ala|916/2273|738/831|246/276||,A|synonymous_variant|LOW|TANGO2|ENSG00000183597|transcript|ENST00000420290|protein_coding|7/7|c.444G>A|p.Ala148Ala|663/931|444/537|148/178||,A|synonymous_variant|LOW|TANGO2|ENSG00000183597|transcript|ENST00000456048|protein_coding|8/8|c.753G>A|p.Ala251Ala|753/2108|753/846|251/281||,A|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|8/8|n.*293G>A|||||8562|,A|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|9/9|n.*449G>A|||||11109|,A|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434570|protein_coding|6/6|c.*5G>A|||||5|,A|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000444651|nonsense_mediated_decay|6/6|n.*139G>A|||||8562|,A|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000411907|processed_transcript||n.*568G>A|||||2913|,A|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450664|protein_coding||c.*568G>A|||||2993|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000430807|nonsense_mediated_decay||n.*489G>A|||||1148|,A|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434168|protein_coding||c.*862G>A|||||1158|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000462579|retained_intron||n.*649G>A|||||2767|,A|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000485715|processed_transcript||n.*617G>A|||||1186|,A|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490121|processed_transcript||n.*125G>A|||||3342|,A|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000601746|antisense|3/3|n.787+577C>T||||||,A|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000415503|antisense|2/2|n.334+577C>T||||||,A|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000608610|antisense|2/2|n.691+577C>T||||||,A|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000600937|antisense|3/3|n.491+577C>T||||||,A|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000595864|antisense|3/3|n.548+577C>T||||||,A|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000596334|antisense|3/3|n.561+577C>T||||||,A|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000600617|antisense|3/3|n.741+577C>T||||||,A|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000598339|antisense|2/2|n.687+577C>T||||||,A|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000609644|antisense|3/3|n.494+577C>T||||||,A|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000609191|antisense|2/2|n.708+577C>T||||||,A|non_coding_exon_variant|MODIFIER|AC006547.15|ENSG00000268292|transcript|ENST00000600090|antisense|2/2|n.566C>T||||||,A|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|8/8|n.*293G>A||||||,A|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|9/9|n.*449G>A||||||,A|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000444651|nonsense_mediated_decay|6/6|n.*139G>A||||||,A|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490583|processed_transcript|5/5|n.498G>A||||||,A|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000476940|processed_transcript|2/2|n.54G>A|||||| 22 20052143 . C T . . ANN=T|synonymous_variant|LOW|TANGO2|ENSG00000183597|transcript|ENST00000401833|protein_coding|9/9|c.912C>T|p.Ser304Ser|1176/1920|912/954|304/317||,T|synonymous_variant|LOW|TANGO2|ENSG00000183597|transcript|ENST00000401886|protein_coding|7/7|c.603C>T|p.Ser201Ser|821/1559|603/645|201/214||,T|synonymous_variant|LOW|TANGO2|ENSG00000183597|transcript|ENST00000447208|protein_coding|10/10|c.789C>T|p.Ser263Ser|1109/1496|789/831|263/276||,T|synonymous_variant|LOW|TANGO2|ENSG00000183597|transcript|ENST00000398042|protein_coding|7/7|c.603C>T|p.Ser201Ser|705/2011|603/645|201/214||,T|synonymous_variant|LOW|TANGO2|ENSG00000183597|transcript|ENST00000432883|protein_coding|7/7|c.603C>T|p.Ser201Ser|781/2085|603/645|201/214||,T|synonymous_variant|LOW|TANGO2|ENSG00000183597|transcript|ENST00000327374|protein_coding|9/9|c.789C>T|p.Ser263Ser|967/2273|789/831|263/276||,T|synonymous_variant|LOW|TANGO2|ENSG00000183597|transcript|ENST00000420290|protein_coding|7/7|c.495C>T|p.Ser165Ser|714/931|495/537|165/178||,T|synonymous_variant|LOW|TANGO2|ENSG00000183597|transcript|ENST00000456048|protein_coding|8/8|c.804C>T|p.Ser268Ser|804/2108|804/846|268/281||,T|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|8/8|n.*344C>T|||||8613|,T|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|9/9|n.*500C>T|||||11160|,T|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434570|protein_coding|6/6|c.*56C>T|||||56|,T|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000444651|nonsense_mediated_decay|6/6|n.*190C>T|||||8613|,T|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000411907|processed_transcript||n.*568C>T|||||2964|,T|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450664|protein_coding||c.*568C>T|||||3044|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000430807|nonsense_mediated_decay||n.*489C>T|||||1199|,T|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434168|protein_coding||c.*862C>T|||||1209|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000462579|retained_intron||n.*649C>T|||||2818|,T|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000485715|processed_transcript||n.*617C>T|||||1237|,T|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490121|processed_transcript||n.*125C>T|||||3393|,T|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000601746|antisense|3/3|n.787+526G>A||||||,T|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000415503|antisense|2/2|n.334+526G>A||||||,T|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000608610|antisense|2/2|n.691+526G>A||||||,T|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000600937|antisense|3/3|n.491+526G>A||||||,T|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000595864|antisense|3/3|n.548+526G>A||||||,T|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000596334|antisense|3/3|n.561+526G>A||||||,T|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000600617|antisense|3/3|n.741+526G>A||||||,T|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000598339|antisense|2/2|n.687+526G>A||||||,T|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000609644|antisense|3/3|n.494+526G>A||||||,T|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000609191|antisense|2/2|n.708+526G>A||||||,T|non_coding_exon_variant|MODIFIER|AC006547.15|ENSG00000268292|transcript|ENST00000600090|antisense|2/2|n.515G>A||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|8/8|n.*344C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|9/9|n.*500C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000444651|nonsense_mediated_decay|6/6|n.*190C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490583|processed_transcript|5/5|n.549C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000476940|processed_transcript|2/2|n.105C>T|||||| 22 20052166 . A G . . ANN=G|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000401833|protein_coding|9/9|c.935A>G|p.Glu312Gly|1199/1920|935/954|312/317||,G|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000401886|protein_coding|7/7|c.626A>G|p.Glu209Gly|844/1559|626/645|209/214||,G|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000447208|protein_coding|10/10|c.812A>G|p.Glu271Gly|1132/1496|812/831|271/276||,G|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000398042|protein_coding|7/7|c.626A>G|p.Glu209Gly|728/2011|626/645|209/214||,G|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000432883|protein_coding|7/7|c.626A>G|p.Glu209Gly|804/2085|626/645|209/214||,G|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000327374|protein_coding|9/9|c.812A>G|p.Glu271Gly|990/2273|812/831|271/276||,G|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000420290|protein_coding|7/7|c.518A>G|p.Glu173Gly|737/931|518/537|173/178||,G|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000456048|protein_coding|8/8|c.827A>G|p.Glu276Gly|827/2108|827/846|276/281||,G|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|8/8|n.*367A>G|||||8636|,G|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|9/9|n.*523A>G|||||11183|,G|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434570|protein_coding|6/6|c.*79A>G|||||79|,G|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000444651|nonsense_mediated_decay|6/6|n.*213A>G|||||8636|,G|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000411907|processed_transcript||n.*568A>G|||||2987|,G|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450664|protein_coding||c.*568A>G|||||3067|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000430807|nonsense_mediated_decay||n.*489A>G|||||1222|,G|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434168|protein_coding||c.*862A>G|||||1232|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000462579|retained_intron||n.*649A>G|||||2841|,G|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000485715|processed_transcript||n.*617A>G|||||1260|,G|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490121|processed_transcript||n.*125A>G|||||3416|,G|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000601746|antisense|3/3|n.787+503T>C||||||,G|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000415503|antisense|2/2|n.334+503T>C||||||,G|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000608610|antisense|2/2|n.691+503T>C||||||,G|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000600937|antisense|3/3|n.491+503T>C||||||,G|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000595864|antisense|3/3|n.548+503T>C||||||,G|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000596334|antisense|3/3|n.561+503T>C||||||,G|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000600617|antisense|3/3|n.741+503T>C||||||,G|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000598339|antisense|2/2|n.687+503T>C||||||,G|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000609644|antisense|3/3|n.494+503T>C||||||,G|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000609191|antisense|2/2|n.708+503T>C||||||,G|non_coding_exon_variant|MODIFIER|AC006547.15|ENSG00000268292|transcript|ENST00000600090|antisense|2/2|n.492T>C||||||,G|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|8/8|n.*367A>G||||||,G|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|9/9|n.*523A>G||||||,G|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000444651|nonsense_mediated_decay|6/6|n.*213A>G||||||,G|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490583|processed_transcript|5/5|n.572A>G||||||,G|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000476940|processed_transcript|2/2|n.128A>G|||||| 22 20073773 . C T . . ANN=T|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding|2/14|c.287C>T|p.Pro96Leu|716/4514|287/2322|96/773||,T|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding|2/13|c.287C>T|p.Pro96Leu|716/4419|287/2223|96/740||,T|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000457069|protein_coding|2/2|c.287C>T|p.Pro96Leu|681/770|287/376|96/124||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding|1/12|c.287C>T|p.Pro96Leu|429/4129|287/2223|96/740||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_nuclear_localization_and_retention|ENST00000351989|protein_coding|3/14|c.287C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_nuclear_localization_and_retention|ENST00000351989|protein_coding|2/14|c.287C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|4/14|c.287C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|3/14|c.287C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|2/14|c.287C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|5/14|c.287C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_nuclear_localization_and_retention|ENST00000407755|protein_coding|2/12|c.287C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_nuclear_localization_and_retention|ENST00000407755|protein_coding|1/12|c.287C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|2/12|c.287C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|1/12|c.287C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|4/12|c.287C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|3/12|c.287C>T||||||,T|upstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.-1C>T|||||786|,T|downstream_gene_variant|MODIFIER|MIR3618|ENSG00000266567|transcript|ENST00000580330|miRNA||n.*88C>T|||||417|,T|downstream_gene_variant|MODIFIER|MIR1306|ENSG00000221366|transcript|ENST00000408439|miRNA||n.*85C>T|||||108|,T|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron|1/12|n.431C>T|||||| 22 20073919 . C T . . ANN=T|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding|2/14|c.433C>T|p.Arg145Trp|862/4514|433/2322|145/773||,T|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding|2/13|c.433C>T|p.Arg145Trp|862/4419|433/2223|145/740||,T|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding|1/12|c.433C>T|p.Arg145Trp|575/4129|433/2223|145/740||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_nuclear_localization_and_retention|ENST00000351989|protein_coding|3/14|c.433C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_nuclear_localization_and_retention|ENST00000351989|protein_coding|2/14|c.433C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|4/14|c.433C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|3/14|c.433C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|2/14|c.433C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|5/14|c.433C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_nuclear_localization_and_retention|ENST00000407755|protein_coding|2/12|c.433C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_nuclear_localization_and_retention|ENST00000407755|protein_coding|1/12|c.433C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|2/12|c.433C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|1/12|c.433C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|4/12|c.433C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|3/12|c.433C>T||||||,T|upstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.-1C>T|||||640|,T|downstream_gene_variant|MODIFIER|MIR3618|ENSG00000266567|transcript|ENST00000580330|miRNA||n.*88C>T|||||563|,T|downstream_gene_variant|MODIFIER|MIR1306|ENSG00000221366|transcript|ENST00000408439|miRNA||n.*85C>T|||||254|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000457069|protein_coding||c.*770C>T|||||57|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron|1/12|n.577C>T|||||| 22 20073923 . C T . . ANN=T|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding|2/14|c.437C>T|p.Ala146Val|866/4514|437/2322|146/773||,T|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding|2/13|c.437C>T|p.Ala146Val|866/4419|437/2223|146/740||,T|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding|1/12|c.437C>T|p.Ala146Val|579/4129|437/2223|146/740||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_nuclear_localization_and_retention|ENST00000351989|protein_coding|3/14|c.437C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_nuclear_localization_and_retention|ENST00000351989|protein_coding|2/14|c.437C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|4/14|c.437C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|3/14|c.437C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|2/14|c.437C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|5/14|c.437C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_nuclear_localization_and_retention|ENST00000407755|protein_coding|2/12|c.437C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_nuclear_localization_and_retention|ENST00000407755|protein_coding|1/12|c.437C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|2/12|c.437C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|1/12|c.437C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|4/12|c.437C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|3/12|c.437C>T||||||,T|upstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.-1C>T|||||636|,T|downstream_gene_variant|MODIFIER|MIR3618|ENSG00000266567|transcript|ENST00000580330|miRNA||n.*88C>T|||||567|,T|downstream_gene_variant|MODIFIER|MIR1306|ENSG00000221366|transcript|ENST00000408439|miRNA||n.*85C>T|||||258|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000457069|protein_coding||c.*770C>T|||||61|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron|1/12|n.581C>T|||||| 22 20073924 . G A . . ANN=A|synonymous_variant|LOW|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding|2/14|c.438G>A|p.Ala146Ala|867/4514|438/2322|146/773||,A|synonymous_variant|LOW|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding|2/13|c.438G>A|p.Ala146Ala|867/4419|438/2223|146/740||,A|synonymous_variant|LOW|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding|1/12|c.438G>A|p.Ala146Ala|580/4129|438/2223|146/740||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_nuclear_localization_and_retention|ENST00000351989|protein_coding|3/14|c.438G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_nuclear_localization_and_retention|ENST00000351989|protein_coding|2/14|c.438G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|4/14|c.438G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|3/14|c.438G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|2/14|c.438G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|5/14|c.438G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_nuclear_localization_and_retention|ENST00000407755|protein_coding|2/12|c.438G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_nuclear_localization_and_retention|ENST00000407755|protein_coding|1/12|c.438G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|2/12|c.438G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|1/12|c.438G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|4/12|c.438G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|3/12|c.438G>A||||||,A|upstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.-1G>A|||||635|,A|downstream_gene_variant|MODIFIER|MIR3618|ENSG00000266567|transcript|ENST00000580330|miRNA||n.*88G>A|||||568|,A|downstream_gene_variant|MODIFIER|MIR1306|ENSG00000221366|transcript|ENST00000408439|miRNA||n.*85G>A|||||259|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000457069|protein_coding||c.*770G>A|||||62|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron|1/12|n.582G>A|||||| 22 20073930 . C T . . ANN=T|synonymous_variant|LOW|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding|2/14|c.444C>T|p.Cys148Cys|873/4514|444/2322|148/773||,T|synonymous_variant|LOW|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding|2/13|c.444C>T|p.Cys148Cys|873/4419|444/2223|148/740||,T|synonymous_variant|LOW|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding|1/12|c.444C>T|p.Cys148Cys|586/4129|444/2223|148/740||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_nuclear_localization_and_retention|ENST00000351989|protein_coding|3/14|c.444C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_nuclear_localization_and_retention|ENST00000351989|protein_coding|2/14|c.444C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|4/14|c.444C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|3/14|c.444C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|2/14|c.444C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|5/14|c.444C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_nuclear_localization_and_retention|ENST00000407755|protein_coding|2/12|c.444C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_nuclear_localization_and_retention|ENST00000407755|protein_coding|1/12|c.444C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|2/12|c.444C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|1/12|c.444C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|4/12|c.444C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|3/12|c.444C>T||||||,T|upstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.-1C>T|||||629|,T|downstream_gene_variant|MODIFIER|MIR3618|ENSG00000266567|transcript|ENST00000580330|miRNA||n.*88C>T|||||574|,T|downstream_gene_variant|MODIFIER|MIR1306|ENSG00000221366|transcript|ENST00000408439|miRNA||n.*85C>T|||||265|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000457069|protein_coding||c.*770C>T|||||68|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron|1/12|n.588C>T|||||| 22 20073937 . C T . . ANN=T|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding|2/14|c.451C>T|p.Leu151Phe|880/4514|451/2322|151/773||,T|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding|2/13|c.451C>T|p.Leu151Phe|880/4419|451/2223|151/740||,T|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding|1/12|c.451C>T|p.Leu151Phe|593/4129|451/2223|151/740||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_nuclear_localization_and_retention|ENST00000351989|protein_coding|3/14|c.451C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_nuclear_localization_and_retention|ENST00000351989|protein_coding|2/14|c.451C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|4/14|c.451C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|3/14|c.451C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|2/14|c.451C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|5/14|c.451C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_nuclear_localization_and_retention|ENST00000407755|protein_coding|2/12|c.451C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_nuclear_localization_and_retention|ENST00000407755|protein_coding|1/12|c.451C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|2/12|c.451C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|1/12|c.451C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|4/12|c.451C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|3/12|c.451C>T||||||,T|upstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.-1C>T|||||622|,T|downstream_gene_variant|MODIFIER|MIR3618|ENSG00000266567|transcript|ENST00000580330|miRNA||n.*88C>T|||||581|,T|downstream_gene_variant|MODIFIER|MIR1306|ENSG00000221366|transcript|ENST00000408439|miRNA||n.*85C>T|||||272|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000457069|protein_coding||c.*770C>T|||||75|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron|1/12|n.595C>T|||||| 22 20074006 . A G . . ANN=G|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding|2/14|c.520A>G|p.Ile174Val|949/4514|520/2322|174/773||,G|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding|2/13|c.520A>G|p.Ile174Val|949/4419|520/2223|174/740||,G|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding|1/12|c.520A>G|p.Ile174Val|662/4129|520/2223|174/740||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_nuclear_localization_and_retention|ENST00000351989|protein_coding|3/14|c.520A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_nuclear_localization_and_retention|ENST00000351989|protein_coding|2/14|c.520A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|4/14|c.520A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|3/14|c.520A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|2/14|c.520A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|5/14|c.520A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_nuclear_localization_and_retention|ENST00000407755|protein_coding|2/12|c.520A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_nuclear_localization_and_retention|ENST00000407755|protein_coding|1/12|c.520A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|2/12|c.520A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|1/12|c.520A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|4/12|c.520A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|3/12|c.520A>G||||||,G|upstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.-1A>G|||||553|,G|downstream_gene_variant|MODIFIER|MIR3618|ENSG00000266567|transcript|ENST00000580330|miRNA||n.*88A>G|||||650|,G|downstream_gene_variant|MODIFIER|MIR1306|ENSG00000221366|transcript|ENST00000408439|miRNA||n.*85A>G|||||341|,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000457069|protein_coding||c.*770A>G|||||144|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron|1/12|n.664A>G|||||| 22 20074699 . C T . . ANN=T|synonymous_variant|LOW|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding|3/14|c.735C>T|p.Asn245Asn|1164/4514|735/2322|245/773||,T|synonymous_variant|LOW|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding|3/13|c.735C>T|p.Asn245Asn|1164/4419|735/2223|245/740||,T|synonymous_variant|LOW|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding|2/12|c.735C>T|p.Asn245Asn|877/4129|735/2223|245/740||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_nuclear_localization_and_retention|ENST00000351989|protein_coding|3/14|c.735C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_nuclear_localization_and_retention|ENST00000351989|protein_coding|2/14|c.735C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|4/14|c.735C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|3/14|c.735C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|2/14|c.735C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|5/14|c.735C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_nuclear_localization_and_retention|ENST00000407755|protein_coding|2/12|c.735C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_nuclear_localization_and_retention|ENST00000407755|protein_coding|1/12|c.735C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|2/12|c.735C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|1/12|c.735C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|4/12|c.735C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|3/12|c.735C>T||||||,T|downstream_gene_variant|MODIFIER|MIR3618|ENSG00000266567|transcript|ENST00000580330|miRNA||n.*88C>T|||||1343|,T|downstream_gene_variant|MODIFIER|MIR1306|ENSG00000221366|transcript|ENST00000408439|miRNA||n.*85C>T|||||1034|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000457069|protein_coding||c.*770C>T|||||837|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron|1/12|n.1357C>T||||||,T|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron|1/11|n.141C>T|||||| 22 20074819 . G C . . ANN=C|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding|3/14|c.855G>C|p.Met285Ile|1284/4514|855/2322|285/773||,C|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding|3/13|c.855G>C|p.Met285Ile|1284/4419|855/2223|285/740||,C|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding|2/12|c.855G>C|p.Met285Ile|997/4129|855/2223|285/740||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|4/14|c.855G>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|3/14|c.855G>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|2/14|c.855G>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|5/14|c.855G>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|9/14|c.855G>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|7/14|c.855G>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|4/14|c.855G>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|6/14|c.855G>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|3/14|c.855G>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|11/14|c.855G>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|12/14|c.855G>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|13/14|c.855G>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|5/14|c.855G>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|8/14|c.855G>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|14/14|c.855G>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|10/14|c.855G>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|2/12|c.855G>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|1/12|c.855G>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|4/12|c.855G>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|3/12|c.855G>C||||||,C|downstream_gene_variant|MODIFIER|MIR3618|ENSG00000266567|transcript|ENST00000580330|miRNA||n.*88G>C|||||1463|,C|downstream_gene_variant|MODIFIER|MIR1306|ENSG00000221366|transcript|ENST00000408439|miRNA||n.*85G>C|||||1154|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000457069|protein_coding||c.*770G>C|||||957|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron|1/12|n.1477G>C||||||,C|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron|1/11|n.261G>C|||||| 22 20074870 . G C . . ANN=C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|4/14|c.880+26G>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|3/14|c.880+26G>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|2/14|c.880+26G>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|5/14|c.880+26G>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|9/14|c.880+26G>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|7/14|c.880+26G>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|4/14|c.880+26G>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|6/14|c.880+26G>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|3/14|c.880+26G>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|11/14|c.880+26G>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|12/14|c.880+26G>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|13/14|c.880+26G>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|5/14|c.880+26G>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|8/14|c.880+26G>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|14/14|c.880+26G>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|10/14|c.880+26G>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|2/12|c.880+26G>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|1/12|c.880+26G>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|4/12|c.880+26G>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|3/12|c.880+26G>C||||||,C|downstream_gene_variant|MODIFIER|MIR3618|ENSG00000266567|transcript|ENST00000580330|miRNA||n.*88G>C|||||1514|,C|downstream_gene_variant|MODIFIER|MIR1306|ENSG00000221366|transcript|ENST00000408439|miRNA||n.*85G>C|||||1205|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000457069|protein_coding||c.*770G>C|||||1008|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding|3/13|c.880+26G>C||||||,C|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding|3/12|c.880+26G>C||||||,C|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron|1/11|n.1502+26G>C||||||,C|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding|2/11|c.880+26G>C||||||,C|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron|1/10|n.286+26G>C|||||| 22 20077155 . T A . . ANN=A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|4/14|c.881-37T>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|3/14|c.881-37T>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|2/14|c.881-37T>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|5/14|c.881-37T>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|9/14|c.881-37T>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|7/14|c.881-37T>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|4/14|c.881-37T>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|6/14|c.881-37T>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|3/14|c.881-37T>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|11/14|c.881-37T>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|12/14|c.881-37T>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|13/14|c.881-37T>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|5/14|c.881-37T>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|8/14|c.881-37T>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|14/14|c.881-37T>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|10/14|c.881-37T>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|2/12|c.881-37T>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|1/12|c.881-37T>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|4/12|c.881-37T>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|3/12|c.881-37T>A||||||,A|downstream_gene_variant|MODIFIER|MIR3618|ENSG00000266567|transcript|ENST00000580330|miRNA||n.*88T>A|||||3799|,A|downstream_gene_variant|MODIFIER|MIR1306|ENSG00000221366|transcript|ENST00000408439|miRNA||n.*85T>A|||||3490|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000457069|protein_coding||c.*770T>A|||||3293|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding|3/13|c.881-37T>A||||||,A|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding|3/12|c.881-37T>A||||||,A|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron|1/11|n.1503-37T>A||||||,A|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding|2/11|c.881-37T>A||||||,A|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron|1/10|n.287-37T>A|||||| 22 20077451 . A G . . ANN=G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|4/14|c.1024-48A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|3/14|c.1024-48A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|2/14|c.1024-48A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|5/14|c.1024-48A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|9/14|c.1024-48A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|7/14|c.1024-48A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|4/14|c.1024-48A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|6/14|c.1024-48A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|3/14|c.1024-48A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|11/14|c.1024-48A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|12/14|c.1024-48A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|13/14|c.1024-48A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|5/14|c.1024-48A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|8/14|c.1024-48A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|14/14|c.1024-48A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|10/14|c.1024-48A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|turn|ENST00000351989|protein_coding|4/14|c.1024-48A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|turn|ENST00000351989|protein_coding|5/14|c.1024-48A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|2/12|c.1024-48A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|1/12|c.1024-48A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|4/12|c.1024-48A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|3/12|c.1024-48A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|turn|ENST00000407755|protein_coding|4/12|c.1024-48A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|turn|ENST00000407755|protein_coding|3/12|c.1024-48A>G||||||,G|upstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000491892|retained_intron||n.-1A>G|||||4784|,G|downstream_gene_variant|MODIFIER|MIR3618|ENSG00000266567|transcript|ENST00000580330|miRNA||n.*88A>G|||||4095|,G|downstream_gene_variant|MODIFIER|MIR1306|ENSG00000221366|transcript|ENST00000408439|miRNA||n.*85A>G|||||3786|,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000457069|protein_coding||c.*770A>G|||||3589|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding|4/13|c.1024-48A>G||||||,G|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding|4/12|c.1024-48A>G||||||,G|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron|2/11|n.1646-48A>G||||||,G|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding|3/11|c.1024-48A>G||||||,G|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron|2/11|n.546A>G|||||| 22 20077456 . C T . . ANN=T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|4/14|c.1024-43C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|3/14|c.1024-43C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|2/14|c.1024-43C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|5/14|c.1024-43C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|9/14|c.1024-43C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|7/14|c.1024-43C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|4/14|c.1024-43C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|6/14|c.1024-43C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|3/14|c.1024-43C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|11/14|c.1024-43C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|12/14|c.1024-43C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|13/14|c.1024-43C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|5/14|c.1024-43C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|8/14|c.1024-43C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|14/14|c.1024-43C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|10/14|c.1024-43C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|turn|ENST00000351989|protein_coding|4/14|c.1024-43C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|turn|ENST00000351989|protein_coding|5/14|c.1024-43C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|2/12|c.1024-43C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|1/12|c.1024-43C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|4/12|c.1024-43C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|3/12|c.1024-43C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|turn|ENST00000407755|protein_coding|4/12|c.1024-43C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|turn|ENST00000407755|protein_coding|3/12|c.1024-43C>T||||||,T|upstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000491892|retained_intron||n.-1C>T|||||4779|,T|downstream_gene_variant|MODIFIER|MIR3618|ENSG00000266567|transcript|ENST00000580330|miRNA||n.*88C>T|||||4100|,T|downstream_gene_variant|MODIFIER|MIR1306|ENSG00000221366|transcript|ENST00000408439|miRNA||n.*85C>T|||||3791|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000457069|protein_coding||c.*770C>T|||||3594|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding|4/13|c.1024-43C>T||||||,T|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding|4/12|c.1024-43C>T||||||,T|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron|2/11|n.1646-43C>T||||||,T|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding|3/11|c.1024-43C>T||||||,T|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron|2/11|n.551C>T|||||| 22 20077523 . A G . . ANN=G|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding|5/14|c.1048A>G|p.Ile350Val|1477/4514|1048/2322|350/773||,G|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding|5/13|c.1048A>G|p.Ile350Val|1477/4419|1048/2223|350/740||,G|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding|4/12|c.1048A>G|p.Ile350Val|1190/4129|1048/2223|350/740||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|9/14|c.1048A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|7/14|c.1048A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|4/14|c.1048A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|6/14|c.1048A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|3/14|c.1048A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|11/14|c.1048A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|12/14|c.1048A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|13/14|c.1048A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|5/14|c.1048A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|8/14|c.1048A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|14/14|c.1048A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|10/14|c.1048A>G||||||,G|upstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000491892|retained_intron||n.-1A>G|||||4712|,G|downstream_gene_variant|MODIFIER|MIR3618|ENSG00000266567|transcript|ENST00000580330|miRNA||n.*88A>G|||||4167|,G|downstream_gene_variant|MODIFIER|MIR1306|ENSG00000221366|transcript|ENST00000408439|miRNA||n.*85A>G|||||3858|,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000457069|protein_coding||c.*770A>G|||||3661|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron|3/12|n.1670A>G||||||,G|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron|2/11|n.618A>G|||||| 22 20077566 . G A . . ANN=A|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding|5/14|c.1091G>A|p.Arg364Gln|1520/4514|1091/2322|364/773||,A|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding|5/13|c.1091G>A|p.Arg364Gln|1520/4419|1091/2223|364/740||,A|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding|4/12|c.1091G>A|p.Arg364Gln|1233/4129|1091/2223|364/740||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|9/14|c.1091G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|7/14|c.1091G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|4/14|c.1091G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|6/14|c.1091G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|3/14|c.1091G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|11/14|c.1091G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|12/14|c.1091G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|13/14|c.1091G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|5/14|c.1091G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|8/14|c.1091G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|14/14|c.1091G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|10/14|c.1091G>A||||||,A|upstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000491892|retained_intron||n.-1G>A|||||4669|,A|downstream_gene_variant|MODIFIER|MIR3618|ENSG00000266567|transcript|ENST00000580330|miRNA||n.*88G>A|||||4210|,A|downstream_gene_variant|MODIFIER|MIR1306|ENSG00000221366|transcript|ENST00000408439|miRNA||n.*85G>A|||||3901|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000457069|protein_coding||c.*770G>A|||||3704|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron|3/12|n.1713G>A||||||,A|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron|2/11|n.661G>A|||||| 22 20077681 . G A . . ANN=A|synonymous_variant|LOW|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding|5/14|c.1206G>A|p.Pro402Pro|1635/4514|1206/2322|402/773||,A|synonymous_variant|LOW|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding|5/13|c.1206G>A|p.Pro402Pro|1635/4419|1206/2223|402/740||,A|synonymous_variant|LOW|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding|4/12|c.1206G>A|p.Pro402Pro|1348/4129|1206/2223|402/740||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|9/14|c.1206G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|7/14|c.1206G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|4/14|c.1206G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|6/14|c.1206G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|3/14|c.1206G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|11/14|c.1206G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|12/14|c.1206G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|13/14|c.1206G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|5/14|c.1206G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|8/14|c.1206G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|14/14|c.1206G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|10/14|c.1206G>A||||||,A|upstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000491892|retained_intron||n.-1G>A|||||4554|,A|downstream_gene_variant|MODIFIER|MIR3618|ENSG00000266567|transcript|ENST00000580330|miRNA||n.*88G>A|||||4325|,A|downstream_gene_variant|MODIFIER|MIR1306|ENSG00000221366|transcript|ENST00000408439|miRNA||n.*85G>A|||||4016|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000457069|protein_coding||c.*770G>A|||||3819|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron|3/12|n.1828G>A||||||,A|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron|2/11|n.776G>A|||||| 22 20077694 . G A . . ANN=A|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding|5/14|c.1219G>A|p.Glu407Lys|1648/4514|1219/2322|407/773||,A|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding|5/13|c.1219G>A|p.Glu407Lys|1648/4419|1219/2223|407/740||,A|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding|4/12|c.1219G>A|p.Glu407Lys|1361/4129|1219/2223|407/740||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|9/14|c.1219G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|7/14|c.1219G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|4/14|c.1219G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|6/14|c.1219G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|3/14|c.1219G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|11/14|c.1219G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|12/14|c.1219G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|13/14|c.1219G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|5/14|c.1219G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|8/14|c.1219G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|14/14|c.1219G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|10/14|c.1219G>A||||||,A|upstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000491892|retained_intron||n.-1G>A|||||4541|,A|downstream_gene_variant|MODIFIER|MIR3618|ENSG00000266567|transcript|ENST00000580330|miRNA||n.*88G>A|||||4338|,A|downstream_gene_variant|MODIFIER|MIR1306|ENSG00000221366|transcript|ENST00000408439|miRNA||n.*85G>A|||||4029|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000457069|protein_coding||c.*770G>A|||||3832|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron|3/12|n.1841G>A||||||,A|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron|2/11|n.789G>A|||||| 22 20077720 . A C . . ANN=C|synonymous_variant|LOW|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding|5/14|c.1245A>C|p.Ala415Ala|1674/4514|1245/2322|415/773||,C|synonymous_variant|LOW|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding|5/13|c.1245A>C|p.Ala415Ala|1674/4419|1245/2223|415/740||,C|synonymous_variant|LOW|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding|4/12|c.1245A>C|p.Ala415Ala|1387/4129|1245/2223|415/740||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|9/14|c.1245A>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|7/14|c.1245A>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|4/14|c.1245A>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|6/14|c.1245A>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|3/14|c.1245A>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|11/14|c.1245A>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|12/14|c.1245A>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|13/14|c.1245A>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|5/14|c.1245A>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|8/14|c.1245A>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|14/14|c.1245A>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|10/14|c.1245A>C||||||,C|upstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000491892|retained_intron||n.-1A>C|||||4515|,C|downstream_gene_variant|MODIFIER|MIR3618|ENSG00000266567|transcript|ENST00000580330|miRNA||n.*88A>C|||||4364|,C|downstream_gene_variant|MODIFIER|MIR1306|ENSG00000221366|transcript|ENST00000408439|miRNA||n.*85A>C|||||4055|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000457069|protein_coding||c.*770A>C|||||3858|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron|3/12|n.1867A>C||||||,C|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron|2/11|n.815A>C|||||| 22 20077756 . C T . . ANN=T|synonymous_variant|LOW|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding|5/14|c.1281C>T|p.Val427Val|1710/4514|1281/2322|427/773||,T|synonymous_variant|LOW|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding|5/13|c.1281C>T|p.Val427Val|1710/4419|1281/2223|427/740||,T|synonymous_variant|LOW|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding|4/12|c.1281C>T|p.Val427Val|1423/4129|1281/2223|427/740||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|9/14|c.1281C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|7/14|c.1281C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|4/14|c.1281C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|6/14|c.1281C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|3/14|c.1281C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|11/14|c.1281C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|12/14|c.1281C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|13/14|c.1281C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|5/14|c.1281C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|8/14|c.1281C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|14/14|c.1281C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|10/14|c.1281C>T||||||,T|upstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000491892|retained_intron||n.-1C>T|||||4479|,T|downstream_gene_variant|MODIFIER|MIR3618|ENSG00000266567|transcript|ENST00000580330|miRNA||n.*88C>T|||||4400|,T|downstream_gene_variant|MODIFIER|MIR1306|ENSG00000221366|transcript|ENST00000408439|miRNA||n.*85C>T|||||4091|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000457069|protein_coding||c.*770C>T|||||3894|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron|3/12|n.1903C>T||||||,T|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron|2/11|n.851C>T|||||| 22 20078948 . T C . . ANN=C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|9/14|c.1307-10T>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|7/14|c.1307-10T>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|4/14|c.1307-10T>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|6/14|c.1307-10T>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|3/14|c.1307-10T>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|11/14|c.1307-10T>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|12/14|c.1307-10T>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|13/14|c.1307-10T>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|5/14|c.1307-10T>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|8/14|c.1307-10T>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|14/14|c.1307-10T>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|10/14|c.1307-10T>C||||||,C|upstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000491892|retained_intron||n.-1T>C|||||3287|,C|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding|5/13|c.1307-10T>C||||||,C|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding|5/12|c.1307-10T>C||||||,C|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron|3/11|n.1929-10T>C||||||,C|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding|4/11|c.1307-10T>C||||||,C|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron|2/10|n.877-10T>C|||||| 22 20079354 . C T . . ANN=T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|9/14|c.1505-38C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|7/14|c.1505-38C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|4/14|c.1505-38C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|6/14|c.1505-38C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|3/14|c.1505-38C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|11/14|c.1505-38C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|12/14|c.1505-38C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|13/14|c.1505-38C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|5/14|c.1505-38C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|8/14|c.1505-38C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|14/14|c.1505-38C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|10/14|c.1505-38C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|9/14|c.1505-38C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|7/14|c.1505-38C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|6/14|c.1505-38C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|11/14|c.1505-38C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|12/14|c.1505-38C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|13/14|c.1505-38C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|8/14|c.1505-38C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|14/14|c.1505-38C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|10/14|c.1505-38C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|beta_strand|ENST00000351989|protein_coding|7/14|c.1505-38C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|beta_strand|ENST00000351989|protein_coding|6/14|c.1505-38C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|beta_strand|ENST00000407755|protein_coding|5/12|c.1505-38C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|beta_strand|ENST00000407755|protein_coding|6/12|c.1505-38C>T||||||,T|upstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000491892|retained_intron||n.-1C>T|||||2881|,T|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding|6/13|c.1505-38C>T||||||,T|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding|6/12|c.1505-38C>T||||||,T|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron|4/11|n.2127-38C>T||||||,T|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding|5/11|c.1505-38C>T||||||,T|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron|3/10|n.1075-38C>T|||||| 22 20079508 . C T . . ANN=T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|9/14|c.1606+15C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|7/14|c.1606+15C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|4/14|c.1606+15C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|6/14|c.1606+15C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|3/14|c.1606+15C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|11/14|c.1606+15C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|12/14|c.1606+15C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|13/14|c.1606+15C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|5/14|c.1606+15C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|8/14|c.1606+15C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|14/14|c.1606+15C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|10/14|c.1606+15C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|9/14|c.1606+15C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|7/14|c.1606+15C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|6/14|c.1606+15C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|11/14|c.1606+15C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|12/14|c.1606+15C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|13/14|c.1606+15C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|8/14|c.1606+15C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|14/14|c.1606+15C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|10/14|c.1606+15C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|domain:DRBM_1|ENST00000351989|protein_coding|9/14|c.1606+15C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|domain:DRBM_1|ENST00000351989|protein_coding|7/14|c.1606+15C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|domain:DRBM_1|ENST00000351989|protein_coding|8/14|c.1606+15C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|beta_strand|ENST00000351989|protein_coding|7/14|c.1606+15C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|beta_strand|ENST00000351989|protein_coding|8/14|c.1606+15C>T||||||,T|upstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000491892|retained_intron||n.-1C>T|||||2727|,T|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding|7/13|c.1606+15C>T||||||,T|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding|7/12|c.1606+15C>T||||||,T|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron|5/11|n.2228+15C>T||||||,T|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding|6/11|c.1606+15C>T||||||,T|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron|4/10|n.1176+15C>T|||||| 22 20080296 . C T . . ANN=T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|9/14|c.1607-36C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|7/14|c.1607-36C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|4/14|c.1607-36C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|6/14|c.1607-36C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|3/14|c.1607-36C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|11/14|c.1607-36C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|12/14|c.1607-36C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|13/14|c.1607-36C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|5/14|c.1607-36C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|8/14|c.1607-36C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|14/14|c.1607-36C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|10/14|c.1607-36C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|9/14|c.1607-36C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|7/14|c.1607-36C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|6/14|c.1607-36C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|11/14|c.1607-36C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|12/14|c.1607-36C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|13/14|c.1607-36C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|8/14|c.1607-36C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|14/14|c.1607-36C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|10/14|c.1607-36C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|domain:DRBM_1|ENST00000351989|protein_coding|9/14|c.1607-36C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|domain:DRBM_1|ENST00000351989|protein_coding|7/14|c.1607-36C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|domain:DRBM_1|ENST00000351989|protein_coding|8/14|c.1607-36C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|beta_strand|ENST00000351989|protein_coding|7/14|c.1607-36C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|beta_strand|ENST00000351989|protein_coding|8/14|c.1607-36C>T||||||,T|upstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000491892|retained_intron||n.-1C>T|||||1939|,T|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding|7/13|c.1607-36C>T||||||,T|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding|7/12|c.1606+803C>T||||||,T|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron|5/11|n.2229-36C>T||||||,T|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding|6/11|c.1606+803C>T||||||,T|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron|4/10|n.1177-36C>T|||||| 22 20080435 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding|8/13|c.1705+5C>T||||||,T|splice_region_variant&intron_variant|LOW|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron|6/11|n.2327+5C>T||||||,T|splice_region_variant&intron_variant|LOW|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron|5/10|n.1275+5C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|9/14|c.1705+5C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|7/14|c.1705+5C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|4/14|c.1705+5C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|6/14|c.1705+5C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|3/14|c.1705+5C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|11/14|c.1705+5C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|12/14|c.1705+5C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|13/14|c.1705+5C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|5/14|c.1705+5C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|8/14|c.1705+5C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|14/14|c.1705+5C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|10/14|c.1705+5C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|9/14|c.1705+5C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|7/14|c.1705+5C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|6/14|c.1705+5C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|11/14|c.1705+5C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|12/14|c.1705+5C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|13/14|c.1705+5C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|8/14|c.1705+5C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|14/14|c.1705+5C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|10/14|c.1705+5C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|domain:DRBM_1|ENST00000351989|protein_coding|9/14|c.1705+5C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|domain:DRBM_1|ENST00000351989|protein_coding|7/14|c.1705+5C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|domain:DRBM_1|ENST00000351989|protein_coding|8/14|c.1705+5C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|helix|ENST00000351989|protein_coding|9/14|c.1705+5C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|helix|ENST00000351989|protein_coding|8/14|c.1705+5C>T||||||,T|upstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000491892|retained_intron||n.-1C>T|||||1800|,T|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding|7/12|c.1606+942C>T||||||,T|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding|6/11|c.1606+942C>T|||||| 22 20080447 . G A . . ANN=A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|9/14|c.1705+17G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|7/14|c.1705+17G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|4/14|c.1705+17G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|6/14|c.1705+17G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|3/14|c.1705+17G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|11/14|c.1705+17G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|12/14|c.1705+17G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|13/14|c.1705+17G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|5/14|c.1705+17G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|8/14|c.1705+17G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|14/14|c.1705+17G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|10/14|c.1705+17G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|9/14|c.1705+17G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|7/14|c.1705+17G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|6/14|c.1705+17G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|11/14|c.1705+17G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|12/14|c.1705+17G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|13/14|c.1705+17G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|8/14|c.1705+17G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|14/14|c.1705+17G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|10/14|c.1705+17G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|domain:DRBM_1|ENST00000351989|protein_coding|9/14|c.1705+17G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|domain:DRBM_1|ENST00000351989|protein_coding|7/14|c.1705+17G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|domain:DRBM_1|ENST00000351989|protein_coding|8/14|c.1705+17G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|helix|ENST00000351989|protein_coding|9/14|c.1705+17G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|helix|ENST00000351989|protein_coding|8/14|c.1705+17G>A||||||,A|upstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000491892|retained_intron||n.-1G>A|||||1788|,A|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding|8/13|c.1705+17G>A||||||,A|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding|7/12|c.1606+954G>A||||||,A|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron|6/11|n.2327+17G>A||||||,A|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding|6/11|c.1606+954G>A||||||,A|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron|5/10|n.1275+17G>A|||||| 22 20080475 . GT G . . 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T C . . ANN=C|splice_region_variant&intron_variant|LOW|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding|8/13|c.1706-8T>C||||||,C|splice_region_variant&intron_variant|LOW|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding|7/12|c.1607-8T>C||||||,C|splice_region_variant&intron_variant|LOW|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron|6/11|n.2328-8T>C||||||,C|splice_region_variant&intron_variant|LOW|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding|6/11|c.1607-8T>C||||||,C|splice_region_variant&intron_variant|LOW|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron|5/10|n.1276-8T>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|9/14|c.1706-8T>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|7/14|c.1706-8T>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|4/14|c.1706-8T>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|6/14|c.1706-8T>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|3/14|c.1706-8T>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|11/14|c.1706-8T>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|12/14|c.1706-8T>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|13/14|c.1706-8T>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|5/14|c.1706-8T>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|8/14|c.1706-8T>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|14/14|c.1706-8T>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|10/14|c.1706-8T>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|9/14|c.1706-8T>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|7/14|c.1706-8T>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|6/14|c.1706-8T>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|11/14|c.1706-8T>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|12/14|c.1706-8T>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|13/14|c.1706-8T>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|8/14|c.1706-8T>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|14/14|c.1706-8T>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|10/14|c.1706-8T>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|domain:DRBM_1|ENST00000351989|protein_coding|9/14|c.1706-8T>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|domain:DRBM_1|ENST00000351989|protein_coding|7/14|c.1706-8T>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|domain:DRBM_1|ENST00000351989|protein_coding|8/14|c.1706-8T>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|helix|ENST00000351989|protein_coding|9/14|c.1706-8T>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|helix|ENST00000351989|protein_coding|8/14|c.1706-8T>C||||||,C|upstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000491892|retained_intron||n.-1T>C|||||7| 22 20082293 . A G . . ANN=G|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding|9/14|c.1763A>G|p.Lys588Arg|2192/4514|1763/2322|588/773||,G|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding|8/13|c.1664A>G|p.Lys555Arg|2093/4419|1664/2223|555/740||,G|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding|7/12|c.1664A>G|p.Lys555Arg|1806/4129|1664/2223|555/740||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|9/14|c.1763A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|7/14|c.1763A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|4/14|c.1763A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|6/14|c.1763A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|3/14|c.1763A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|11/14|c.1763A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|12/14|c.1763A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|13/14|c.1763A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|5/14|c.1763A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|8/14|c.1763A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|14/14|c.1763A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|10/14|c.1763A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|9/14|c.1763A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|7/14|c.1763A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|6/14|c.1763A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|11/14|c.1763A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|12/14|c.1763A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|13/14|c.1763A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|8/14|c.1763A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|14/14|c.1763A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|10/14|c.1763A>G||||||,G|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron|7/12|n.2385A>G||||||,G|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron|6/11|n.1333A>G||||||,G|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000491892|retained_intron|1/3|n.59A>G|||||| 22 20082352 . T C . . 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C T . . ANN=T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|9/14|c.1789-45C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|7/14|c.1789-45C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|4/14|c.1789-45C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|6/14|c.1789-45C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|3/14|c.1789-45C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|11/14|c.1789-45C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|12/14|c.1789-45C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|13/14|c.1789-45C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|5/14|c.1789-45C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|8/14|c.1789-45C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|14/14|c.1789-45C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|10/14|c.1789-45C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|9/14|c.1789-45C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|7/14|c.1789-45C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|6/14|c.1789-45C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|11/14|c.1789-45C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|12/14|c.1789-45C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|13/14|c.1789-45C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|8/14|c.1789-45C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|14/14|c.1789-45C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|10/14|c.1789-45C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|helix|ENST00000351989|protein_coding|9/14|c.1789-45C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|helix|ENST00000351989|protein_coding|10/14|c.1789-45C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|helix|ENST00000407755|protein_coding|7/12|c.1690-45C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|helix|ENST00000407755|protein_coding|8/12|c.1690-45C>T||||||,T|upstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495351|retained_intron||n.-1C>T|||||50|,T|upstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron||n.-1C>T|||||435|,T|upstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.-1C>T|||||1440|,T|downstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.*526G>A|||||4689|,T|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding|9/13|c.1789-45C>T||||||,T|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding|8/12|c.1690-45C>T||||||,T|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron|7/11|n.2411-45C>T||||||,T|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding|7/11|c.1690-45C>T||||||,T|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron|6/10|n.1359-45C>T||||||,T|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcri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22 20093837 . C T . . ANN=T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|9/14|c.1889+37C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|7/14|c.1889+37C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|4/14|c.1889+37C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|6/14|c.1889+37C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|3/14|c.1889+37C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|11/14|c.1889+37C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|12/14|c.1889+37C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|13/14|c.1889+37C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|5/14|c.1889+37C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|8/14|c.1889+37C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|14/14|c.1889+37C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|10/14|c.1889+37C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|9/14|c.1889+37C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|7/14|c.1889+37C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|6/14|c.1889+37C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|11/14|c.1889+37C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|12/14|c.1889+37C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|13/14|c.1889+37C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|8/14|c.1889+37C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|14/14|c.1889+37C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|10/14|c.1889+37C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|domain:DRBM_2|ENST00000351989|protein_coding|11/14|c.1889+37C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|domain:DRBM_2|ENST00000351989|protein_coding|12/14|c.1889+37C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|domain:DRBM_2|ENST00000351989|protein_coding|10/14|c.1889+37C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|domain:DRBM_2|ENST00000407755|protein_coding|9/12|c.1790+37C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|domain:DRBM_2|ENST00000407755|protein_coding|10/12|c.1790+37C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|domain:DRBM_2|ENST00000407755|protein_coding|8/12|c.1790+37C>T||||||,T|upstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron||n.-1C>T|||||253|,T|upstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.-1C>T|||||1258|,T|downstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.*526G>A|||||4507|,T|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding|10/13|c.1889+37C>T||||||,T|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding|9/12|c.1790+37C>T||||||,T|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron|8/11|n.2511+37C>T||||||,T|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding|8/11|c.1790+37C>T||||||,T|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron|7/10|n.1459+37C>T||||||,T|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000491892|retained_intron|2/2|n.185+37C>T||||||,T|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495351|retained_intron|1/2|n.96+37C>T|||||| 22 20094211 . G A . . 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ture|LOW|DGCR8|ENSG00000128191|beta_strand|ENST00000407755|protein_coding|10/12|c.1887G>A||||||,A|upstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.-1G>A|||||884|,A|downstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.*526C>T|||||4133|,A|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron|8/11|n.1556G>A||||||,A|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000491892|retained_intron|3/3|n.282G>A||||||,A|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495351|retained_intron|2/3|n.193G>A||||||,A|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron|1/3|n.122G>A|||||| 22 20094244 . C T . . ANN=T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|9/14|c.1996+23C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|7/14|c.1996+23C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|4/14|c.1996+23C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|6/14|c.1996+23C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|3/14|c.1996+23C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|11/14|c.1996+23C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|12/14|c.1996+23C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|13/14|c.1996+23C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|5/14|c.1996+23C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|8/14|c.1996+23C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|14/14|c.1996+23C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|10/14|c.1996+23C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|9/14|c.1996+23C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|7/14|c.1996+23C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|6/14|c.1996+23C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|11/14|c.1996+23C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|12/14|c.1996+23C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|13/14|c.1996+23C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|8/14|c.1996+23C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|14/14|c.1996+23C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|10/14|c.1996+23C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|domain:DRBM_2|ENST00000351989|protein_coding|11/14|c.1996+23C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|domain:DRBM_2|ENST00000351989|protein_coding|12/14|c.1996+23C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|domain:DRBM_2|ENST00000351989|protein_coding|10/14|c.1996+23C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|beta_strand|ENST00000351989|protein_coding|11/14|c.1996+23C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|beta_strand|ENST00000351989|protein_coding|12/14|c.1996+23C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|domain:DRBM_2|ENST00000407755|protein_coding|9/12|c.1897+23C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|domain:DRBM_2|ENST00000407755|protein_coding|10/12|c.1897+23C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|domain:DRBM_2|ENST00000407755|protein_coding|8/12|c.1897+23C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|beta_strand|ENST00000407755|protein_coding|9/12|c.1897+23C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|beta_strand|ENST00000407755|protein_coding|10/12|c.1897+23C>T||||||,T|upstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.-1C>T|||||851|,T|downstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.*526G>A|||||4100|,T|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding|11/13|c.1996+23C>T||||||,T|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding|10/12|c.1897+23C>T||||||,T|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron|9/11|n.2605+36C>T||||||,T|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding|9/11|c.1897+23C>T||||||,T|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron|8/10|n.1566+23C>T||||||,T|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495351|retained_intron|2/2|n.203+23C>T||||||,T|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron|1/2|n.132+23C>T||||||,T|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000491892|retained_intron|3/3|n.315C>T|||||| 22 20094263 . C T . . ANN=T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|9/14|c.1996+42C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|7/14|c.1996+42C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|4/14|c.1996+42C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|6/14|c.1996+42C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|3/14|c.1996+42C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|11/14|c.1996+42C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|12/14|c.1996+42C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|13/14|c.1996+42C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|5/14|c.1996+42C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|8/14|c.1996+42C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|14/14|c.1996+42C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|10/14|c.1996+42C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|9/14|c.1996+42C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|7/14|c.1996+42C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|6/14|c.1996+42C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|11/14|c.1996+42C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|12/14|c.1996+42C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|13/14|c.1996+42C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|8/14|c.1996+42C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|14/14|c.1996+42C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|10/14|c.1996+42C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|domain:DRBM_2|ENST00000351989|protein_coding|11/14|c.1996+42C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|domain:DRBM_2|ENST00000351989|protein_coding|12/14|c.1996+42C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|domain:DRBM_2|ENST00000351989|protein_coding|10/14|c.1996+42C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|beta_strand|ENST00000351989|protein_coding|11/14|c.1996+42C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|beta_strand|ENST00000351989|protein_coding|12/14|c.1996+42C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|domain:DRBM_2|ENST00000407755|protein_coding|9/12|c.1897+42C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|domain:DRBM_2|ENST00000407755|protein_coding|10/12|c.1897+42C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|domain:DRBM_2|ENST00000407755|protein_coding|8/12|c.1897+42C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|beta_strand|ENST00000407755|protein_coding|9/12|c.1897+42C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|beta_strand|ENST00000407755|protein_coding|10/12|c.1897+42C>T||||||,T|upstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.-1C>T|||||832|,T|downstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.*526G>A|||||4081|,T|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding|11/13|c.1996+42C>T||||||,T|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding|10/12|c.1897+42C>T||||||,T|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron|9/11|n.2605+55C>T||||||,T|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding|9/11|c.1897+42C>T||||||,T|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron|8/10|n.1566+42C>T||||||,T|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495351|retained_intron|2/2|n.203+42C>T||||||,T|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron|1/2|n.132+42C>T||||||,T|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000491892|retained_intron|3/3|n.334C>T|||||| 22 20094762 . C A . . ANN=A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|9/14|c.1997-32C>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|7/14|c.1997-32C>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|4/14|c.1997-32C>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|6/14|c.1997-32C>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|3/14|c.1997-32C>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|11/14|c.1997-32C>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|12/14|c.1997-32C>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|13/14|c.1997-32C>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|5/14|c.1997-32C>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|8/14|c.1997-32C>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|14/14|c.1997-32C>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|10/14|c.1997-32C>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|9/14|c.1997-32C>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|7/14|c.1997-32C>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|6/14|c.1997-32C>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|11/14|c.1997-32C>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|12/14|c.1997-32C>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|13/14|c.1997-32C>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|8/14|c.1997-32C>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|14/14|c.1997-32C>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|10/14|c.1997-32C>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|domain:DRBM_2|ENST00000351989|protein_coding|11/14|c.1997-32C>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|domain:DRBM_2|ENST00000351989|protein_coding|12/14|c.1997-32C>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|domain:DRBM_2|ENST00000351989|protein_coding|10/14|c.1997-32C>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|beta_strand|ENST00000351989|protein_coding|11/14|c.1997-32C>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|beta_strand|ENST00000351989|protein_coding|12/14|c.1997-32C>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|domain:DRBM_2|ENST00000407755|protein_coding|9/12|c.1898-32C>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|domain:DRBM_2|ENST00000407755|protein_coding|10/12|c.1898-32C>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|domain:DRBM_2|ENST00000407755|protein_coding|8/12|c.1898-32C>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|beta_strand|ENST00000407755|protein_coding|9/12|c.1898-32C>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|beta_strand|ENST00000407755|protein_coding|10/12|c.1898-32C>A||||||,A|upstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.-1C>A|||||333|,A|downstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.*526G>T|||||3582|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000491892|retained_intron||n.*630C>A|||||203|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding||c.*2267G>T|||||4627|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding||c.*2240G>T|||||4636|,A|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding|11/13|c.1997-32C>A||||||,A|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding|10/12|c.1898-32C>A||||||,A|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron|9/11|n.2606-32C>A||||||,A|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding|9/11|c.1898-32C>A||||||,A|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron|8/10|n.1567-32C>A||||||,A|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495351|retained_intron|2/2|n.204-32C>A||||||,A|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron|1/2|n.133-32C>A|||||| 22 20094825 . C T . . ANN=T|synonymous_variant|LOW|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding|12/14|c.2028C>T|p.Ala676Ala|2457/4514|2028/2322|676/773||,T|synonymous_variant|LOW|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding|11/13|c.1929C>T|p.Ala643Ala|2358/4419|1929/2223|643/740||,T|synonymous_variant|LOW|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding|10/12|c.1929C>T|p.Ala643Ala|2071/4129|1929/2223|643/740||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|9/14|c.2028C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|7/14|c.2028C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|4/14|c.2028C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|6/14|c.2028C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|3/14|c.2028C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|11/14|c.2028C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|12/14|c.2028C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|13/14|c.2028C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|5/14|c.2028C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|8/14|c.2028C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|14/14|c.2028C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|10/14|c.2028C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|9/14|c.2028C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|7/14|c.2028C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|6/14|c.2028C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|11/14|c.2028C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|12/14|c.2028C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|13/14|c.2028C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|8/14|c.2028C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|14/14|c.2028C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|10/14|c.2028C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|domain:DRBM_2|ENST00000351989|protein_coding|11/14|c.2028C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|domain:DRBM_2|ENST00000351989|protein_coding|12/14|c.2028C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|domain:DRBM_2|ENST00000351989|protein_coding|10/14|c.2028C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|helix|ENST00000351989|protein_coding|12/14|c.2028C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|domain:DRBM_2|ENST00000407755|protein_coding|9/12|c.1929C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|domain:DRBM_2|ENST00000407755|protein_coding|10/12|c.1929C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|domain:DRBM_2|ENST00000407755|protein_coding|8/12|c.1929C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|helix|ENST00000407755|protein_coding|10/12|c.1929C>T||||||,T|upstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.-1C>T|||||270|,T|downstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.*526G>A|||||3519|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000491892|retained_intron||n.*630C>T|||||266|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding||c.*2267G>A|||||4564|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding||c.*2240G>A|||||4573|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.*762G>A|||||4999|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.*477G>A|||||4999|WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron|10/12|n.2637C>T||||||,T|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron|9/11|n.1598C>T||||||,T|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495351|retained_intron|3/3|n.235C>T||||||,T|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron|2/3|n.164C>T|||||| 22 20096364 . C T . . ANN=T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|9/14|c.2125-49C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|7/14|c.2125-49C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|4/14|c.2125-49C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|6/14|c.2125-49C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|3/14|c.2125-49C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|11/14|c.2125-49C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|12/14|c.2125-49C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|13/14|c.2125-49C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|5/14|c.2125-49C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|8/14|c.2125-49C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|14/14|c.2125-49C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|10/14|c.2125-49C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|9/14|c.2125-49C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|7/14|c.2125-49C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|6/14|c.2125-49C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|11/14|c.2125-49C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|12/14|c.2125-49C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|13/14|c.2125-49C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|8/14|c.2125-49C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|14/14|c.2125-49C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|10/14|c.2125-49C>T||||||,T|downstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.*526G>A|||||1980|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding||c.*2248G>A|||||3497|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000491892|retained_intron||n.*630C>T|||||1805|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495351|retained_intron||n.*508C>T|||||1266|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding||c.*2267G>A|||||3025|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding||c.*2240G>A|||||3034|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.*762G>A|||||3460|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.*477G>A|||||3460|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding||c.*2028G>A|||||3463|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.*1040G>A|||||3487|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.*654G>A|||||3658|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.*426G>A|||||3727|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron||n.*1098G>A|||||4051|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.*854G>A|||||4277|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.*848G>A|||||4645|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.*379G>A|||||4809|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.*757G>A|||||4863|,T|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding|12/13|c.2125-49C>T||||||,T|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding|11/12|c.2026-49C>T||||||,T|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron|10/11|n.2734-49C>T||||||,T|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding|10/11|c.2026-49C>T||||||,T|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron|9/10|n.1695-49C>T||||||,T|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron|2/2|n.261-49C>T||||||,T|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron|1/2|n.1270C>T|||||| 22 20096395 . A G . . 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G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron||n.*1098T>C|||||4020|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.*854T>C|||||4246|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.*848T>C|||||4614|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.*379T>C|||||4778|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.*757T>C|||||4832|,G|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding|12/13|c.2125-18A>G||||||,G|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding|11/12|c.2026-18A>G||||||,G|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron|10/11|n.2734-18A>G||||||,G|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding|10/11|c.2026-18A>G||||||,G|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron|9/10|n.1695-18A>G||||||,G|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron|2/2|n.261-18A>G||||||,G|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron|1/2|n.1301A>G|||||| 22 20097518 . T C . . ANN=C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|9/14|c.2239-30T>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|7/14|c.2239-30T>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|4/14|c.2239-30T>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|6/14|c.2239-30T>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|3/14|c.2239-30T>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|11/14|c.2239-30T>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|12/14|c.2239-30T>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|13/14|c.2239-30T>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|5/14|c.2239-30T>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|8/14|c.2239-30T>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|14/14|c.2239-30T>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|10/14|c.2239-30T>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|9/14|c.2239-30T>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|7/14|c.2239-30T>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|6/14|c.2239-30T>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|11/14|c.2239-30T>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|12/14|c.2239-30T>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|13/14|c.2239-30T>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|8/14|c.2239-30T>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|14/14|c.2239-30T>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|10/14|c.2239-30T>C||||||,C|downstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.*526A>G|||||826|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding||c.*2248A>G|||||2343|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000491892|retained_intron||n.*630T>C|||||2959|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495351|retained_intron||n.*508T>C|||||2420|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron||n.*555T>C|||||811|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding||c.*2267A>G|||||1871|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding||c.*2240A>G|||||1880|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.*762A>G|||||2306|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.*477A>G|||||2306|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding||c.*2028A>G|||||2309|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.*1040A>G|||||2333|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.*654A>G|||||2504|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.*426A>G|||||2573|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron||n.*1098A>G|||||2897|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.*854A>G|||||3123|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.*848A>G|||||3491|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.*379A>G|||||3655|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.*757A>G|||||3709|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582A>G|||||4772|,C|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding|13/13|c.2239-30T>C||||||,C|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding|12/12|c.2140-30T>C||||||,C|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron|11/11|n.2848-30T>C||||||,C|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding|11/11|c.2140-30T>C||||||,C|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron|10/10|n.1809-30T>C||||||,C|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron|1/1|n.1433-30T>C|||||| 22 20097523 . C G . . ANN=G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|9/14|c.2239-25C>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|7/14|c.2239-25C>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|4/14|c.2239-25C>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|6/14|c.2239-25C>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|3/14|c.2239-25C>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|11/14|c.2239-25C>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|12/14|c.2239-25C>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|13/14|c.2239-25C>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|5/14|c.2239-25C>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|8/14|c.2239-25C>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|14/14|c.2239-25C>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|10/14|c.2239-25C>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|9/14|c.2239-25C>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|7/14|c.2239-25C>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|6/14|c.2239-25C>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|11/14|c.2239-25C>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|12/14|c.2239-25C>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|13/14|c.2239-25C>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|8/14|c.2239-25C>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|14/14|c.2239-25C>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|10/14|c.2239-25C>G||||||,G|downstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.*526G>C|||||821|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding||c.*2248G>C|||||2338|,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000491892|retained_intron||n.*630C>G|||||2964|,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495351|retained_intron||n.*508C>G|||||2425|,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron||n.*555C>G|||||816|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding||c.*2267G>C|||||1866|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding||c.*2240G>C|||||1875|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.*762G>C|||||2301|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.*477G>C|||||2301|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding||c.*2028G>C|||||2304|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.*1040G>C|||||2328|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.*654G>C|||||2499|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.*426G>C|||||2568|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron||n.*1098G>C|||||2892|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.*854G>C|||||3118|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.*848G>C|||||3486|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.*379G>C|||||3650|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.*757G>C|||||3704|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582G>C|||||4767|,G|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding|13/13|c.2239-25C>G||||||,G|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding|12/12|c.2140-25C>G||||||,G|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron|11/11|n.2848-25C>G||||||,G|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding|11/11|c.2140-25C>G||||||,G|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron|10/10|n.1809-25C>G||||||,G|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron|1/1|n.1433-25C>G|||||| 22 20097530 . C A . . ANN=A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|9/14|c.2239-18C>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|7/14|c.2239-18C>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|4/14|c.2239-18C>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|6/14|c.2239-18C>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|3/14|c.2239-18C>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|11/14|c.2239-18C>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|12/14|c.2239-18C>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|13/14|c.2239-18C>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|5/14|c.2239-18C>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|8/14|c.2239-18C>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|14/14|c.2239-18C>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|10/14|c.2239-18C>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|9/14|c.2239-18C>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|7/14|c.2239-18C>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|6/14|c.2239-18C>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|11/14|c.2239-18C>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|12/14|c.2239-18C>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|13/14|c.2239-18C>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|8/14|c.2239-18C>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|14/14|c.2239-18C>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|10/14|c.2239-18C>A||||||,A|downstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.*526G>T|||||814|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding||c.*2248G>T|||||2331|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000491892|retained_intron||n.*630C>A|||||2971|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495351|retained_intron||n.*508C>A|||||2432|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron||n.*555C>A|||||823|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding||c.*2267G>T|||||1859|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding||c.*2240G>T|||||1868|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.*762G>T|||||2294|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.*477G>T|||||2294|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding||c.*2028G>T|||||2297|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.*1040G>T|||||2321|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.*654G>T|||||2492|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.*426G>T|||||2561|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron||n.*1098G>T|||||2885|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.*854G>T|||||3111|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.*848G>T|||||3479|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.*379G>T|||||3643|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.*757G>T|||||3697|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582G>T|||||4760|,A|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding|13/13|c.2239-18C>A||||||,A|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding|12/12|c.2140-18C>A||||||,A|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron|11/11|n.2848-18C>A||||||,A|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding|11/11|c.2140-18C>A||||||,A|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron|10/10|n.1809-18C>A||||||,A|intron_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron|1/1|n.1433-18C>A|||||| 22 20097585 . C T . . ANN=T|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding|14/14|c.2276C>T|p.Ala759Val|2705/4514|2276/2322|759/773||,T|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding|13/13|c.2177C>T|p.Ala726Val|2606/4419|2177/2223|726/740||,T|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding|12/12|c.2177C>T|p.Ala726Val|2319/4129|2177/2223|726/740||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|9/14|c.2276C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|7/14|c.2276C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|6/14|c.2276C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|11/14|c.2276C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|12/14|c.2276C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|13/14|c.2276C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|8/14|c.2276C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|14/14|c.2276C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|10/14|c.2276C>T||||||,T|downstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.*526G>A|||||759|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding||c.*2248G>A|||||2276|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000491892|retained_intron||n.*630C>T|||||3026|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495351|retained_intron||n.*508C>T|||||2487|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron||n.*555C>T|||||878|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding||c.*2267G>A|||||1804|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding||c.*2240G>A|||||1813|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.*762G>A|||||2239|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.*477G>A|||||2239|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding||c.*2028G>A|||||2242|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.*1040G>A|||||2266|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.*654G>A|||||2437|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.*426G>A|||||2506|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron||n.*1098G>A|||||2830|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.*854G>A|||||3056|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.*848G>A|||||3424|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.*379G>A|||||3588|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.*757G>A|||||3642|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582G>A|||||4705|,T|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron|12/12|n.2885C>T||||||,T|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron|11/11|n.1846C>T||||||,T|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron|2/2|n.1470C>T|||||| 22 20097602 . G A . . ANN=A|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding|14/14|c.2293G>A|p.Gly765Ser|2722/4514|2293/2322|765/773||,A|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding|13/13|c.2194G>A|p.Gly732Ser|2623/4419|2194/2223|732/740||,A|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding|12/12|c.2194G>A|p.Gly732Ser|2336/4129|2194/2223|732/740||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|9/14|c.2293G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|7/14|c.2293G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|6/14|c.2293G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|11/14|c.2293G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|12/14|c.2293G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|13/14|c.2293G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|8/14|c.2293G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|14/14|c.2293G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|10/14|c.2293G>A||||||,A|downstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.*526C>T|||||742|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding||c.*2248C>T|||||2259|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000491892|retained_intron||n.*630G>A|||||3043|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495351|retained_intron||n.*508G>A|||||2504|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron||n.*555G>A|||||895|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding||c.*2267C>T|||||1787|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding||c.*2240C>T|||||1796|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.*762C>T|||||2222|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.*477C>T|||||2222|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding||c.*2028C>T|||||2225|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.*1040C>T|||||2249|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.*654C>T|||||2420|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.*426C>T|||||2489|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron||n.*1098C>T|||||2813|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.*854C>T|||||3039|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.*848C>T|||||3407|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.*379C>T|||||3571|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.*757C>T|||||3625|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582C>T|||||4688|,A|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron|12/12|n.2902G>A||||||,A|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron|11/11|n.1863G>A||||||,A|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron|2/2|n.1487G>A|||||| 22 20097643 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding|14/14|c.*12C>T|||||12|,T|3_prime_UTR_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding|13/13|c.*12C>T|||||12|,T|3_prime_UTR_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding|12/12|c.*12C>T|||||12|,T|downstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.*526G>A|||||701|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding||c.*2248G>A|||||2218|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000491892|retained_intron||n.*630C>T|||||3084|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495351|retained_intron||n.*508C>T|||||2545|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron||n.*555C>T|||||936|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding||c.*2267G>A|||||1746|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding||c.*2240G>A|||||1755|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.*762G>A|||||2181|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.*477G>A|||||2181|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding||c.*2028G>A|||||2184|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.*1040G>A|||||2208|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.*654G>A|||||2379|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.*426G>A|||||2448|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron||n.*1098G>A|||||2772|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.*854G>A|||||2998|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.*848G>A|||||3366|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.*379G>A|||||3530|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.*757G>A|||||3584|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582G>A|||||4647|,T|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron|12/12|n.2943C>T||||||,T|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron|11/11|n.1904C>T||||||,T|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron|2/2|n.1528C>T|||||| 22 20097650 . G C . . ANN=C|3_prime_UTR_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding|14/14|c.*19G>C|||||19|,C|3_prime_UTR_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding|13/13|c.*19G>C|||||19|,C|3_prime_UTR_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding|12/12|c.*19G>C|||||19|,C|downstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.*526C>G|||||694|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding||c.*2248C>G|||||2211|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000491892|retained_intron||n.*630G>C|||||3091|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495351|retained_intron||n.*508G>C|||||2552|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron||n.*555G>C|||||943|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding||c.*2267C>G|||||1739|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding||c.*2240C>G|||||1748|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.*762C>G|||||2174|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.*477C>G|||||2174|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding||c.*2028C>G|||||2177|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.*1040C>G|||||2201|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.*654C>G|||||2372|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.*426C>G|||||2441|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron||n.*1098C>G|||||2765|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.*854C>G|||||2991|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.*848C>G|||||3359|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.*379C>G|||||3523|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.*757C>G|||||3577|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582C>G|||||4640|,C|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron|12/12|n.2950G>C||||||,C|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron|11/11|n.1911G>C||||||,C|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron|2/2|n.1535G>C|||||| 22 20097653 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding|14/14|c.*22C>T|||||22|,T|3_prime_UTR_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding|13/13|c.*22C>T|||||22|,T|3_prime_UTR_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding|12/12|c.*22C>T|||||22|,T|downstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.*526G>A|||||691|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding||c.*2248G>A|||||2208|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000491892|retained_intron||n.*630C>T|||||3094|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495351|retained_intron||n.*508C>T|||||2555|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron||n.*555C>T|||||946|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding||c.*2267G>A|||||1736|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding||c.*2240G>A|||||1745|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.*762G>A|||||2171|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.*477G>A|||||2171|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding||c.*2028G>A|||||2174|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.*1040G>A|||||2198|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.*654G>A|||||2369|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.*426G>A|||||2438|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron||n.*1098G>A|||||2762|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.*854G>A|||||2988|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.*848G>A|||||3356|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.*379G>A|||||3520|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.*757G>A|||||3574|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582G>A|||||4637|,T|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron|12/12|n.2953C>T||||||,T|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron|11/11|n.1914C>T||||||,T|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron|2/2|n.1538C>T|||||| 22 20097656 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding|14/14|c.*25G>A|||||25|,A|3_prime_UTR_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding|13/13|c.*25G>A|||||25|,A|3_prime_UTR_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding|12/12|c.*25G>A|||||25|,A|downstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.*526C>T|||||688|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding||c.*2248C>T|||||2205|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000491892|retained_intron||n.*630G>A|||||3097|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495351|retained_intron||n.*508G>A|||||2558|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron||n.*555G>A|||||949|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding||c.*2267C>T|||||1733|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding||c.*2240C>T|||||1742|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.*762C>T|||||2168|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.*477C>T|||||2168|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding||c.*2028C>T|||||2171|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.*1040C>T|||||2195|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.*654C>T|||||2366|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.*426C>T|||||2435|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron||n.*1098C>T|||||2759|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.*854C>T|||||2985|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.*848C>T|||||3353|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.*379C>T|||||3517|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.*757C>T|||||3571|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582C>T|||||4634|,A|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron|12/12|n.2956G>A||||||,A|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron|11/11|n.1917G>A||||||,A|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron|2/2|n.1541G>A|||||| 22 20100133 . G A . . ANN=A|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|12/12|c.1885C>T|p.Pro629Ser|2201/2473|1885/1932|629/643||,A|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|12/12|c.1831C>T|p.Pro611Ser|2220/2964|1831/1878|611/625||,A|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|13/13|c.1831C>T|p.Pro611Ser|2193/2928|1831/1878|611/625||,A|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding|4/4|c.430C>T|p.Pro144Ser|430/739|430/477|144/158||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding|3/3|c.382C>T|p.Pro128Ser|384/426|382/424|128/140||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|12/12|c.*164C>T|||||164|,A|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1C>T|||||735|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248G>A|||||3328|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832G>A|||||3328|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248G>A|||||3328|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227G>A|||||4814|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1G>A|||||4914|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103G>A|||||4938|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94G>A|||||4947|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751G>A|||||739|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652G>A|||||735|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695G>A|||||738|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365G>A|||||738|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661G>A|||||733|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron||n.*555G>A|||||3426|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669G>A|||||1349|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron||n.*1098C>T|||||282|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.*854C>T|||||508|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.*848C>T|||||876|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.*379C>T|||||1040|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.*757C>T|||||1094|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582C>T|||||2157|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957C>T|||||2727|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378C>T|||||2739|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060C>T|||||2967|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943C>T|||||3000|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582C>T|||||3632|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron|2/2|n.453C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron|4/4|n.758C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron|3/3|n.543C>T|||||| 22 20100158 . G C . . ANN=C|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|12/12|c.1860C>G|p.Ser620Arg|2176/2473|1860/1932|620/643||,C|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|12/12|c.1806C>G|p.Ser602Arg|2195/2964|1806/1878|602/625||,C|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|13/13|c.1806C>G|p.Ser602Arg|2168/2928|1806/1878|602/625||,C|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding|4/4|c.405C>G|p.Ser135Arg|405/739|405/477|135/158||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding|3/3|c.357C>G|p.Ser119Arg|359/426|357/424|119/140||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|MODERATE|TRMT2A|ENSG00000099899|amino_acid_modification:Phosphoserine|ENST00000403707|protein_coding|13/13|c.1806C>G||||||,C|3_prime_UTR_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|12/12|c.*139C>G|||||139|,C|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1C>G|||||760|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248G>C|||||3303|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832G>C|||||3303|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248G>C|||||3303|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227G>C|||||4789|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1G>C|||||4889|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103G>C|||||4913|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94G>C|||||4922|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751G>C|||||764|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652G>C|||||760|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695G>C|||||763|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365G>C|||||763|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661G>C|||||758|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron||n.*555G>C|||||3451|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669G>C|||||1374|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron||n.*1098C>G|||||257|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.*854C>G|||||483|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.*848C>G|||||851|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.*379C>G|||||1015|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.*757C>G|||||1069|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582C>G|||||2132|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957C>G|||||2702|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378C>G|||||2714|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060C>G|||||2942|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943C>G|||||2975|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582C>G|||||3607|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron|2/2|n.428C>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron|4/4|n.733C>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron|3/3|n.518C>G|||||| 22 20100166 . G GC . . ANN=C|frameshift_variant|HIGH|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|12/12|c.1851dupG|p.Pro618fs|2167/2473|1851/1932|617/643||,C|frameshift_variant|HIGH|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|12/12|c.1797dupG|p.Pro600fs|2186/2964|1797/1878|599/625||,C|frameshift_variant|HIGH|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|13/13|c.1797dupG|p.Pro600fs|2159/2928|1797/1878|599/625||,C|frameshift_variant|HIGH|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding|4/4|c.396dupG|p.Pro133fs|396/739|396/477|132/158||WARNING_TRANSCRIPT_NO_START_CODON,C|frameshift_variant|HIGH|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding|3/3|c.348dupG|p.Pro117fs|350/426|348/424|116/140||WARNING_TRANSCRIPT_INCOMPLETE,C|3_prime_UTR_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|12/12|c.*130dupG|||||130|,C|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1dupG|||||769|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248_-248insC|||||3294|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832_-832insC|||||3294|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248_-248insC|||||3294|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227_-227insC|||||4780|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1_-1insC|||||4880|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103_-103insC|||||4904|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94_-94insC|||||4913|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751_*2751insC|||||773|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652_*2652insC|||||769|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695_*4695insC|||||772|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365_*2365insC|||||772|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661_*3661insC|||||767|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron||n.*555_*555insC|||||3460|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669_*2669insC|||||1383|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron||n.*1098dupG|||||248|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.*854dupG|||||474|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.*848dupG|||||842|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.*379dupG|||||1006|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.*757dupG|||||1060|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582dupG|||||2123|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957dupG|||||2693|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378dupG|||||2705|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060dupG|||||2933|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943dupG|||||2966|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582dupG|||||3598|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron|2/2|n.419dupG||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron|4/4|n.724dupG||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron|3/3|n.509dupG||||||;LOF=(TRMT2A|ENSG00000099899|20|0.10) 22 20100200 . C T . . ANN=T|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|12/12|c.1818G>A|p.Arg606Arg|2134/2473|1818/1932|606/643||,T|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|12/12|c.1764G>A|p.Arg588Arg|2153/2964|1764/1878|588/625||,T|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|13/13|c.1764G>A|p.Arg588Arg|2126/2928|1764/1878|588/625||,T|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding|4/4|c.363G>A|p.Arg121Arg|363/739|363/477|121/158||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding|3/3|c.315G>A|p.Arg105Arg|317/426|315/424|105/140||WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|12/12|c.*97G>A|||||97|,T|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1G>A|||||802|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248C>T|||||3261|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832C>T|||||3261|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248C>T|||||3261|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227C>T|||||4747|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1C>T|||||4847|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103C>T|||||4871|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94C>T|||||4880|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1C>T|||||4976|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751C>T|||||806|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652C>T|||||802|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695C>T|||||805|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365C>T|||||805|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661C>T|||||800|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron||n.*555C>T|||||3493|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669C>T|||||1416|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron||n.*1098G>A|||||215|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.*854G>A|||||441|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.*848G>A|||||809|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.*379G>A|||||973|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.*757G>A|||||1027|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582G>A|||||2090|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957G>A|||||2660|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378G>A|||||2672|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060G>A|||||2900|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943G>A|||||2933|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582G>A|||||3565|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron|2/2|n.386G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron|4/4|n.691G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron|3/3|n.476G>A|||||| 22 20100209 . C T . . ANN=T|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|12/12|c.1809G>A|p.Leu603Leu|2125/2473|1809/1932|603/643||,T|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|12/12|c.1755G>A|p.Leu585Leu|2144/2964|1755/1878|585/625||,T|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|13/13|c.1755G>A|p.Leu585Leu|2117/2928|1755/1878|585/625||,T|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding|4/4|c.354G>A|p.Leu118Leu|354/739|354/477|118/158||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding|3/3|c.306G>A|p.Leu102Leu|308/426|306/424|102/140||WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|12/12|c.*88G>A|||||88|,T|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1G>A|||||811|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248C>T|||||3252|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832C>T|||||3252|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248C>T|||||3252|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227C>T|||||4738|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1C>T|||||4838|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103C>T|||||4862|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94C>T|||||4871|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1C>T|||||4967|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751C>T|||||815|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652C>T|||||811|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695C>T|||||814|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365C>T|||||814|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661C>T|||||809|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron||n.*555C>T|||||3502|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669C>T|||||1425|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron||n.*1098G>A|||||206|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.*854G>A|||||432|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.*848G>A|||||800|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.*379G>A|||||964|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.*757G>A|||||1018|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582G>A|||||2081|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957G>A|||||2651|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378G>A|||||2663|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060G>A|||||2891|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943G>A|||||2924|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582G>A|||||3556|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron|2/2|n.377G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron|4/4|n.682G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron|3/3|n.467G>A|||||| 22 20100273 . C T . . ANN=T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|12/12|c.1745G>A|p.Arg582Gln|2061/2473|1745/1932|582/643||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|12/12|c.1691G>A|p.Arg564Gln|2080/2964|1691/1878|564/625||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|13/13|c.1691G>A|p.Arg564Gln|2053/2928|1691/1878|564/625||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding|4/4|c.290G>A|p.Arg97Gln|290/739|290/477|97/158||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding|3/3|c.242G>A|p.Arg81Gln|244/426|242/424|81/140||WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|12/12|c.*24G>A|||||24|,T|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1G>A|||||875|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248C>T|||||3188|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832C>T|||||3188|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248C>T|||||3188|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227C>T|||||4674|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1C>T|||||4774|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103C>T|||||4798|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94C>T|||||4807|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1C>T|||||4903|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751C>T|||||879|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652C>T|||||875|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695C>T|||||878|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365C>T|||||878|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661C>T|||||873|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron||n.*555C>T|||||3566|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669C>T|||||1489|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron||n.*1098G>A|||||142|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.*854G>A|||||368|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.*848G>A|||||736|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.*379G>A|||||900|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.*757G>A|||||954|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582G>A|||||2017|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957G>A|||||2587|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378G>A|||||2599|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060G>A|||||2827|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943G>A|||||2860|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582G>A|||||3492|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron|2/2|n.313G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron|4/4|n.618G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron|3/3|n.403G>A|||||| 22 20100387 . G A . . ANN=A|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1C>T|||||989|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248G>A|||||3074|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832G>A|||||3074|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248G>A|||||3074|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227G>A|||||4560|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1G>A|||||4660|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103G>A|||||4684|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94G>A|||||4693|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1G>A|||||4789|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486G>A|||||4918|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751G>A|||||993|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652G>A|||||989|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695G>A|||||992|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365G>A|||||992|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661G>A|||||987|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron||n.*555G>A|||||3680|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669G>A|||||1603|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron||n.*1098C>T|||||28|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.*854C>T|||||254|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.*848C>T|||||622|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.*379C>T|||||786|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.*757C>T|||||840|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582C>T|||||1903|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957C>T|||||2473|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378C>T|||||2485|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060C>T|||||2713|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943C>T|||||2746|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582C>T|||||3378|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|11/11|c.1700+47C>T||||||,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|11/11|c.1646+47C>T||||||,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|12/12|c.1646+47C>T||||||,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron|1/1|n.268+47C>T||||||,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding|3/3|c.246-70C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|11/11|c.1646+47C>T||||||,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron|2/2|n.358+47C>T||||||,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding|2/2|c.198-70C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron|4/4|n.504C>T|||||| 22 20100400 . C T . . ANN=T|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1G>A|||||1002|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248C>T|||||3061|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832C>T|||||3061|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248C>T|||||3061|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227C>T|||||4547|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1C>T|||||4647|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103C>T|||||4671|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94C>T|||||4680|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1C>T|||||4776|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486C>T|||||4905|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174C>T|||||4998|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751C>T|||||1006|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652C>T|||||1002|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695C>T|||||1005|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365C>T|||||1005|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661C>T|||||1000|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron||n.*555C>T|||||3693|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669C>T|||||1616|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron||n.*1098G>A|||||15|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.*854G>A|||||241|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.*848G>A|||||609|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.*379G>A|||||773|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.*757G>A|||||827|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582G>A|||||1890|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957G>A|||||2460|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378G>A|||||2472|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060G>A|||||2700|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943G>A|||||2733|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582G>A|||||3365|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|11/11|c.1700+34G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|11/11|c.1646+34G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|12/12|c.1646+34G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron|1/1|n.268+34G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding|3/3|c.245+79G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|11/11|c.1646+34G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron|2/2|n.358+34G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding|2/2|c.198-83G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron|4/4|n.491G>A|||||| 22 20100409 . C T . . ANN=T|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1G>A|||||1011|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248C>T|||||3052|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832C>T|||||3052|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248C>T|||||3052|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227C>T|||||4538|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1C>T|||||4638|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103C>T|||||4662|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94C>T|||||4671|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1C>T|||||4767|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486C>T|||||4896|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174C>T|||||4989|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751C>T|||||1015|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652C>T|||||1011|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695C>T|||||1014|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365C>T|||||1014|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661C>T|||||1009|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron||n.*555C>T|||||3702|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669C>T|||||1625|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron||n.*1098G>A|||||6|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.*854G>A|||||232|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.*848G>A|||||600|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.*379G>A|||||764|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.*757G>A|||||818|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582G>A|||||1881|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957G>A|||||2451|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378G>A|||||2463|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060G>A|||||2691|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943G>A|||||2724|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582G>A|||||3356|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|11/11|c.1700+25G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|11/11|c.1646+25G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|12/12|c.1646+25G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron|1/1|n.268+25G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding|3/3|c.245+70G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|11/11|c.1646+25G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron|2/2|n.358+25G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding|2/2|c.198-92G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron|4/4|n.482G>A|||||| 22 20100419 . C T . . ANN=T|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1G>A|||||1021|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248C>T|||||3042|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832C>T|||||3042|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248C>T|||||3042|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227C>T|||||4528|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1C>T|||||4628|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103C>T|||||4652|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94C>T|||||4661|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1C>T|||||4757|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486C>T|||||4886|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174C>T|||||4979|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751C>T|||||1025|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652C>T|||||1021|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695C>T|||||1024|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365C>T|||||1024|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661C>T|||||1019|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron||n.*555C>T|||||3712|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669C>T|||||1635|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.*854G>A|||||222|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.*848G>A|||||590|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.*379G>A|||||754|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.*757G>A|||||808|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582G>A|||||1871|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957G>A|||||2441|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378G>A|||||2453|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060G>A|||||2681|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943G>A|||||2714|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582G>A|||||3346|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|11/11|c.1700+15G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|11/11|c.1646+15G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|12/12|c.1646+15G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron|1/1|n.268+15G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding|3/3|c.245+60G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|11/11|c.1646+15G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron|2/2|n.358+15G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding|2/2|c.198-102G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron|4/4|n.472G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|9/9|n.1094G>A|||||| 22 20100526 . G C . . ANN=C|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|11/12|c.1608C>G|p.Ser536Ser|1924/2473|1608/1932|536/643||,C|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|11/12|c.1554C>G|p.Ser518Ser|1943/2964|1554/1878|518/625||,C|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|12/13|c.1554C>G|p.Ser518Ser|1916/2928|1554/1878|518/625||,C|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding|3/4|c.198C>G|p.Ser66Ser|198/739|198/477|66/158||WARNING_TRANSCRIPT_NO_START_CODON,C|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|11/12|c.1554C>G|p.Ser518Ser|1893/2498|1554/1689|518/562||,C|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1C>G|||||1128|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219G>C|||||4931|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248G>C|||||2935|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832G>C|||||2935|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248G>C|||||2935|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227G>C|||||4421|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1G>C|||||4521|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103G>C|||||4545|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94G>C|||||4554|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1G>C|||||4650|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486G>C|||||4779|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174G>C|||||4872|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497G>C|||||4950|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751G>C|||||1132|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652G>C|||||1128|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695G>C|||||1131|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365G>C|||||1131|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661G>C|||||1126|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron||n.*555G>C|||||3819|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669G>C|||||1742|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.*854C>G|||||115|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.*848C>G|||||483|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.*379C>G|||||647|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.*757C>G|||||701|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582C>G|||||1764|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957C>G|||||2334|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378C>G|||||2346|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060C>G|||||2574|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943C>G|||||2607|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582C>G|||||3239|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding|2/2|c.198-209C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron|1/2|n.176C>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron|4/4|n.365C>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron|2/3|n.266C>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|9/9|n.987C>G|||||| 22 20100567 . G A . . ANN=A|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1C>T|||||1169|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219G>A|||||4890|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248G>A|||||2894|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832G>A|||||2894|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248G>A|||||2894|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227G>A|||||4380|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1G>A|||||4480|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103G>A|||||4504|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94G>A|||||4513|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1G>A|||||4609|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486G>A|||||4738|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174G>A|||||4831|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497G>A|||||4909|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751G>A|||||1173|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652G>A|||||1169|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695G>A|||||1172|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365G>A|||||1172|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661G>A|||||1167|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron||n.*555G>A|||||3860|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669G>A|||||1783|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.*854C>T|||||74|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.*848C>T|||||442|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.*379C>T|||||606|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.*757C>T|||||660|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582C>T|||||1723|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957C>T|||||2293|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378C>T|||||2305|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060C>T|||||2533|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943C>T|||||2566|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582C>T|||||3198|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|10/11|c.1604-37C>T||||||,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|10/11|c.1550-37C>T||||||,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|11/12|c.1550-37C>T||||||,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding|2/3|c.194-37C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|10/11|c.1550-37C>T||||||,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron|3/3|n.361-37C>T||||||,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron|1/2|n.262-37C>T||||||,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding|2/2|c.198-250C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|8/8|n.983-37C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron|1/2|n.135C>T|||||| 22 20100596 . T C . . ANN=C|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1A>G|||||1198|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219T>C|||||4861|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248T>C|||||2865|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832T>C|||||2865|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248T>C|||||2865|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227T>C|||||4351|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1T>C|||||4451|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103T>C|||||4475|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94T>C|||||4484|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1T>C|||||4580|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486T>C|||||4709|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174T>C|||||4802|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497T>C|||||4880|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751T>C|||||1202|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652T>C|||||1198|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695T>C|||||1201|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365T>C|||||1201|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661T>C|||||1196|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron||n.*555T>C|||||3889|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669T>C|||||1812|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.*854A>G|||||45|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.*848A>G|||||413|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.*379A>G|||||577|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.*757A>G|||||631|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582A>G|||||1694|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957A>G|||||2264|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378A>G|||||2276|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060A>G|||||2504|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943A>G|||||2537|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582A>G|||||3169|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|10/11|c.1603+45A>G||||||,C|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|10/11|c.1549+45A>G||||||,C|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|11/12|c.1549+45A>G||||||,C|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding|2/3|c.193+45A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|10/11|c.1549+45A>G||||||,C|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron|3/3|n.360+45A>G||||||,C|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron|1/2|n.261+45A>G||||||,C|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding|2/2|c.198-279A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|8/8|n.982+45A>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron|1/2|n.106A>G|||||| 22 20100615 . C T . . ANN=T|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1G>A|||||1217|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219C>T|||||4842|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248C>T|||||2846|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832C>T|||||2846|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248C>T|||||2846|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227C>T|||||4332|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1C>T|||||4432|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103C>T|||||4456|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94C>T|||||4465|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1C>T|||||4561|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486C>T|||||4690|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174C>T|||||4783|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497C>T|||||4861|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751C>T|||||1221|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652C>T|||||1217|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695C>T|||||1220|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365C>T|||||1220|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661C>T|||||1215|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron||n.*555C>T|||||3908|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669C>T|||||1831|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.*854G>A|||||26|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.*848G>A|||||394|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.*379G>A|||||558|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.*757G>A|||||612|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582G>A|||||1675|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957G>A|||||2245|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378G>A|||||2257|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060G>A|||||2485|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943G>A|||||2518|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582G>A|||||3150|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|10/11|c.1603+26G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|10/11|c.1549+26G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|11/12|c.1549+26G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding|2/3|c.193+26G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|10/11|c.1549+26G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron|3/3|n.360+26G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron|1/2|n.261+26G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding|2/2|c.198-298G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|8/8|n.982+26G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron|1/2|n.87G>A|||||| 22 20100674 . C T . . ANN=T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|10/12|c.1570G>A|p.Val524Met|1886/2473|1570/1932|524/643||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|10/12|c.1516G>A|p.Val506Met|1905/2964|1516/1878|506/625||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|11/13|c.1516G>A|p.Val506Met|1878/2928|1516/1878|506/625||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding|2/4|c.160G>A|p.Val54Met|160/739|160/477|54/158||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|10/12|c.1516G>A|p.Val506Met|1855/2498|1516/1689|506/562||,T|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1G>A|||||1276|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219C>T|||||4783|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248C>T|||||2787|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832C>T|||||2787|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248C>T|||||2787|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227C>T|||||4273|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1C>T|||||4373|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103C>T|||||4397|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94C>T|||||4406|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1C>T|||||4502|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486C>T|||||4631|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174C>T|||||4724|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497C>T|||||4802|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751C>T|||||1280|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652C>T|||||1276|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695C>T|||||1279|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365C>T|||||1279|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661C>T|||||1274|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron||n.*555C>T|||||3967|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669C>T|||||1890|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.*848G>A|||||335|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.*379G>A|||||499|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.*757G>A|||||553|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582G>A|||||1616|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957G>A|||||2186|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378G>A|||||2198|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060G>A|||||2426|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943G>A|||||2459|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582G>A|||||3091|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding|2/2|c.197+281G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron|1/2|n.28G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron|3/4|n.327G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron|1/3|n.228G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|8/9|n.949G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript|8/8|n.821G>A|||||| 22 20100687 . G A . . ANN=A|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|10/12|c.1557C>T|p.Ala519Ala|1873/2473|1557/1932|519/643||,A|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|10/12|c.1503C>T|p.Ala501Ala|1892/2964|1503/1878|501/625||,A|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|11/13|c.1503C>T|p.Ala501Ala|1865/2928|1503/1878|501/625||,A|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding|2/4|c.147C>T|p.Ala49Ala|147/739|147/477|49/158||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|10/12|c.1503C>T|p.Ala501Ala|1842/2498|1503/1689|501/562||,A|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1C>T|||||1289|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219G>A|||||4770|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248G>A|||||2774|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832G>A|||||2774|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248G>A|||||2774|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227G>A|||||4260|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1G>A|||||4360|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103G>A|||||4384|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94G>A|||||4393|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1G>A|||||4489|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486G>A|||||4618|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174G>A|||||4711|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497G>A|||||4789|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751G>A|||||1293|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652G>A|||||1289|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695G>A|||||1292|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365G>A|||||1292|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661G>A|||||1287|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron||n.*555G>A|||||3980|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669G>A|||||1903|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.*848C>T|||||322|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.*379C>T|||||486|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.*757C>T|||||540|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582C>T|||||1603|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957C>T|||||2173|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378C>T|||||2185|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060C>T|||||2413|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943C>T|||||2446|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582C>T|||||3078|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding|2/2|c.197+268C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron|1/2|n.15C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron|3/4|n.314C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron|1/3|n.215C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|8/9|n.936C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript|8/8|n.808C>T|||||| 22 20100697 . C T . . ANN=T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|10/12|c.1547G>A|p.Ser516Asn|1863/2473|1547/1932|516/643||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|10/12|c.1493G>A|p.Ser498Asn|1882/2964|1493/1878|498/625||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|11/13|c.1493G>A|p.Ser498Asn|1855/2928|1493/1878|498/625||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding|2/4|c.137G>A|p.Ser46Asn|137/739|137/477|46/158||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|10/12|c.1493G>A|p.Ser498Asn|1832/2498|1493/1689|498/562||,T|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1G>A|||||1299|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219C>T|||||4760|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248C>T|||||2764|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832C>T|||||2764|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248C>T|||||2764|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227C>T|||||4250|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1C>T|||||4350|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103C>T|||||4374|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94C>T|||||4383|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1C>T|||||4479|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486C>T|||||4608|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174C>T|||||4701|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497C>T|||||4779|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751C>T|||||1303|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652C>T|||||1299|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695C>T|||||1302|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365C>T|||||1302|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661C>T|||||1297|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron||n.*555C>T|||||3990|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669C>T|||||1913|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.*848G>A|||||312|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.*379G>A|||||476|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.*757G>A|||||530|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582G>A|||||1593|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957G>A|||||2163|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378G>A|||||2175|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060G>A|||||2403|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943G>A|||||2436|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582G>A|||||3068|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding|2/2|c.197+258G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron|1/2|n.5G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron|3/4|n.304G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron|1/3|n.205G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|8/9|n.926G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript|8/8|n.798G>A|||||| 22 20100705 . G A . . ANN=A|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|10/12|c.1539C>T|p.Thr513Thr|1855/2473|1539/1932|513/643||,A|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|10/12|c.1485C>T|p.Thr495Thr|1874/2964|1485/1878|495/625||,A|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|11/13|c.1485C>T|p.Thr495Thr|1847/2928|1485/1878|495/625||,A|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding|2/4|c.129C>T|p.Thr43Thr|129/739|129/477|43/158||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|10/12|c.1485C>T|p.Thr495Thr|1824/2498|1485/1689|495/562||,A|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1C>T|||||1307|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219G>A|||||4752|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1C>T|||||4|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248G>A|||||2756|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832G>A|||||2756|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248G>A|||||2756|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227G>A|||||4242|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1G>A|||||4342|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103G>A|||||4366|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94G>A|||||4375|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1G>A|||||4471|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486G>A|||||4600|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174G>A|||||4693|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497G>A|||||4771|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751G>A|||||1311|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652G>A|||||1307|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695G>A|||||1310|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365G>A|||||1310|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661G>A|||||1305|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron||n.*555G>A|||||3998|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669G>A|||||1921|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.*848C>T|||||304|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.*379C>T|||||468|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.*757C>T|||||522|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582C>T|||||1585|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957C>T|||||2155|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378C>T|||||2167|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060C>T|||||2395|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943C>T|||||2428|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582C>T|||||3060|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding|2/2|c.197+250C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron|3/4|n.296C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron|1/3|n.197C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|8/9|n.918C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript|8/8|n.790C>T|||||| 22 20100779 . C G . . ANN=G|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1G>C|||||1381|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219C>G|||||4678|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1G>C|||||78|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248C>G|||||2682|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832C>G|||||2682|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248C>G|||||2682|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227C>G|||||4168|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1C>G|||||4268|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103C>G|||||4292|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94C>G|||||4301|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1C>G|||||4397|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486C>G|||||4526|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174C>G|||||4619|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497C>G|||||4697|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751C>G|||||1385|,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652C>G|||||1381|,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695C>G|||||1384|,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365C>G|||||1384|,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661C>G|||||1379|,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron||n.*555C>G|||||4072|,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669C>G|||||1995|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.*848G>C|||||230|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.*379G>C|||||394|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.*757G>C|||||448|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582G>C|||||1511|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957G>C|||||2081|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378G>C|||||2093|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060G>C|||||2321|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943G>C|||||2354|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582G>C|||||2986|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|9/11|c.1487-22G>C||||||,G|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|9/11|c.1433-22G>C||||||,G|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|10/12|c.1433-22G>C||||||,G|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding|1/3|c.77-22G>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|9/11|c.1433-22G>C||||||,G|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron|2/3|n.244-22G>C||||||,G|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding|2/2|c.197+176G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|7/8|n.866-22G>C||||||,G|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript|7/7|n.738-22G>C||||||,G|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron|1/3|n.123G>C|||||| 22 20100791 . C G . . ANN=G|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1G>C|||||1393|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219C>G|||||4666|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1G>C|||||90|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248C>G|||||2670|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832C>G|||||2670|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248C>G|||||2670|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227C>G|||||4156|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1C>G|||||4256|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103C>G|||||4280|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94C>G|||||4289|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1C>G|||||4385|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486C>G|||||4514|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174C>G|||||4607|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497C>G|||||4685|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751C>G|||||1397|,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652C>G|||||1393|,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695C>G|||||1396|,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365C>G|||||1396|,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661C>G|||||1391|,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron||n.*555C>G|||||4084|,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669C>G|||||2007|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.*848G>C|||||218|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.*379G>C|||||382|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.*757G>C|||||436|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582G>C|||||1499|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957G>C|||||2069|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378G>C|||||2081|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060G>C|||||2309|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943G>C|||||2342|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582G>C|||||2974|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|9/11|c.1487-34G>C||||||,G|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|9/11|c.1433-34G>C||||||,G|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|10/12|c.1433-34G>C||||||,G|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding|1/3|c.77-34G>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|9/11|c.1433-34G>C||||||,G|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron|2/3|n.244-34G>C||||||,G|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding|2/2|c.197+164G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|7/8|n.866-34G>C||||||,G|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript|7/7|n.738-34G>C||||||,G|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron|1/3|n.111G>C|||||| 22 20100911 . C T . . ANN=T|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1G>A|||||1513|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219C>T|||||4546|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1G>A|||||210|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1G>A|||||10|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248C>T|||||2550|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832C>T|||||2550|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248C>T|||||2550|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227C>T|||||4036|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1C>T|||||4136|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103C>T|||||4160|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94C>T|||||4169|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1C>T|||||4265|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486C>T|||||4394|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174C>T|||||4487|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497C>T|||||4565|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751C>T|||||1517|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652C>T|||||1513|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695C>T|||||1516|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365C>T|||||1516|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661C>T|||||1511|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron||n.*555C>T|||||4204|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669C>T|||||2127|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.*848G>A|||||98|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.*379G>A|||||262|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.*757G>A|||||316|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582G>A|||||1379|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957G>A|||||1949|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378G>A|||||1961|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060G>A|||||2189|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943G>A|||||2222|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582G>A|||||2854|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|9/11|c.1486+44G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|9/11|c.1432+44G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|10/12|c.1432+44G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding|1/3|c.76+44G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|9/11|c.1432+44G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron|2/3|n.243+44G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding|2/2|c.197+44G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|7/8|n.865+44G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript|7/7|n.737+44G>A|||||| 22 20100940 . G A . . ANN=A|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1C>T|||||1542|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219G>A|||||4517|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1C>T|||||239|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1C>T|||||39|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248G>A|||||2521|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832G>A|||||2521|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248G>A|||||2521|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227G>A|||||4007|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1G>A|||||4107|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103G>A|||||4131|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94G>A|||||4140|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1G>A|||||4236|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486G>A|||||4365|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174G>A|||||4458|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497G>A|||||4536|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751G>A|||||1546|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652G>A|||||1542|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695G>A|||||1545|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365G>A|||||1545|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661G>A|||||1540|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron||n.*555G>A|||||4233|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669G>A|||||2156|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.*848C>T|||||69|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.*379C>T|||||233|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.*757C>T|||||287|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582C>T|||||1350|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957C>T|||||1920|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378C>T|||||1932|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060C>T|||||2160|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943C>T|||||2193|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582C>T|||||2825|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|9/11|c.1486+15C>T||||||,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|9/11|c.1432+15C>T||||||,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|10/12|c.1432+15C>T||||||,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding|1/3|c.76+15C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|9/11|c.1432+15C>T||||||,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron|2/3|n.243+15C>T||||||,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding|2/2|c.197+15C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|7/8|n.865+15C>T||||||,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript|7/7|n.737+15C>T|||||| 22 20101025 . T C . . ANN=C|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding|2/3|c.127A>G|p.Lys43Glu|129/426|127/424|43/140||WARNING_TRANSCRIPT_INCOMPLETE,C|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|9/12|c.1416A>G|p.Val472Val|1732/2473|1416/1932|472/643||,C|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|9/12|c.1362A>G|p.Val454Val|1751/2964|1362/1878|454/625||,C|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|10/13|c.1362A>G|p.Val454Val|1724/2928|1362/1878|454/625||,C|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding|1/4|c.6A>G|p.Val2Val|6/739|6/477|2/158||WARNING_TRANSCRIPT_NO_START_CODON,C|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|9/12|c.1362A>G|p.Val454Val|1701/2498|1362/1689|454/562||,C|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1A>G|||||1627|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219T>C|||||4432|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1A>G|||||324|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1A>G|||||124|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248T>C|||||2436|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832T>C|||||2436|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248T>C|||||2436|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227T>C|||||3922|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1T>C|||||4022|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103T>C|||||4046|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94T>C|||||4055|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1T>C|||||4151|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486T>C|||||4280|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174T>C|||||4373|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497T>C|||||4451|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751T>C|||||1631|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652T>C|||||1627|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695T>C|||||1630|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365T>C|||||1630|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661T>C|||||1625|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron||n.*555T>C|||||4318|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669T>C|||||2241|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.*379A>G|||||148|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.*757A>G|||||202|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582A>G|||||1265|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957A>G|||||1835|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378A>G|||||1847|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060A>G|||||2075|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943A>G|||||2108|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582A>G|||||2740|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron|2/4|n.173A>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|7/9|n.795A>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript|7/8|n.667A>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron|5/5|n.832A>G|||||| 22 20101045 . C T . . ANN=T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|9/12|c.1396G>A|p.Ala466Thr|1712/2473|1396/1932|466/643||,T|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1G>A|||||1647|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219C>T|||||4412|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1G>A|||||344|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1G>A|||||15|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1G>A|||||144|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248C>T|||||2416|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832C>T|||||2416|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248C>T|||||2416|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227C>T|||||3902|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1C>T|||||4002|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103C>T|||||4026|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94C>T|||||4035|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1C>T|||||4131|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486C>T|||||4260|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174C>T|||||4353|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497C>T|||||4431|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751C>T|||||1651|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652C>T|||||1647|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695C>T|||||1650|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365C>T|||||1650|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661C>T|||||1645|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron||n.*555C>T|||||4338|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669C>T|||||2261|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.*379G>A|||||128|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.*757G>A|||||182|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582G>A|||||1245|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957G>A|||||1815|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378G>A|||||1827|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060G>A|||||2055|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943G>A|||||2088|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582G>A|||||2720|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|8/11|c.1357-15G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|9/12|c.1357-15G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|8/11|c.1357-15G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding|1/2|c.122-15G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|6/8|n.790-15G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript|6/7|n.662-15G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron|4/4|n.827-15G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron|2/4|n.153G>A|||||| 22 20101233 . G A . . ANN=A|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding|1/3|c.97C>T|p.His33Tyr|99/426|97/424|33/140||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|8/12|c.1332C>T|p.Gly444Gly|1648/2473|1332/1932|444/643||,A|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|8/12|c.1332C>T|p.Gly444Gly|1721/2964|1332/1878|444/625||,A|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|9/13|c.1332C>T|p.Gly444Gly|1694/2928|1332/1878|444/625||,A|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|8/12|c.1332C>T|p.Gly444Gly|1671/2498|1332/1689|444/562||,A|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1C>T|||||1835|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219G>A|||||4224|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1C>T|||||532|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1C>T|||||203|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1C>T|||||332|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248G>A|||||2228|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832G>A|||||2228|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248G>A|||||2228|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227G>A|||||3714|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1G>A|||||3814|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103G>A|||||3838|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94G>A|||||3847|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1G>A|||||3943|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486G>A|||||4072|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174G>A|||||4165|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497G>A|||||4243|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751G>A|||||1839|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652G>A|||||1835|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695G>A|||||1838|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365G>A|||||1838|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661G>A|||||1833|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron||n.*555G>A|||||4526|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669G>A|||||2449|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582C>T|||||1057|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957C>T|||||1627|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378C>T|||||1639|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060C>T|||||1867|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943C>T|||||1900|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582C>T|||||2532|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron|1/4|n.89C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|6/9|n.765C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript|6/8|n.637C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron|4/5|n.802C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript|3/3|n.319C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron|4/4|n.751C>T|||||| 22 20101343 . C T . . ANN=T|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1G>A|||||1945|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219C>T|||||4114|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1G>A|||||642|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1G>A|||||313|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1G>A|||||22|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1G>A|||||442|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3G>A|||||12|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248C>T|||||2118|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832C>T|||||2118|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248C>T|||||2118|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227C>T|||||3604|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1C>T|||||3704|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103C>T|||||3728|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94C>T|||||3737|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1C>T|||||3833|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486C>T|||||3962|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174C>T|||||4055|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497C>T|||||4133|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751C>T|||||1949|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652C>T|||||1945|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695C>T|||||1948|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365C>T|||||1948|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661C>T|||||1943|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron||n.*555C>T|||||4636|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669C>T|||||2559|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582G>A|||||947|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957G>A|||||1517|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378G>A|||||1529|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060G>A|||||1757|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943G>A|||||1790|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582G>A|||||2422|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|7/11|c.1234-12G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|7/11|c.1234-12G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|8/12|c.1234-12G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|7/11|c.1234-12G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|5/8|n.667-12G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript|5/7|n.539-12G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron|3/4|n.704-12G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript|2/2|n.221-12G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron|3/3|n.653-12G>A|||||| 22 20102047 . G A . . ANN=A|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1C>T|||||2649|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219G>A|||||3410|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1C>T|||||1346|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1C>T|||||1017|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1C>T|||||726|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1C>T|||||1146|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3C>T|||||716|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248G>A|||||1414|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832G>A|||||1414|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248G>A|||||1414|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227G>A|||||2900|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1G>A|||||3000|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103G>A|||||3024|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94G>A|||||3033|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1G>A|||||3129|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486G>A|||||3258|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174G>A|||||3351|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497G>A|||||3429|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751G>A|||||2653|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652G>A|||||2649|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695G>A|||||2652|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365G>A|||||2652|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661G>A|||||2647|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669G>A|||||3263|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582C>T|||||243|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957C>T|||||813|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378C>T|||||825|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060C>T|||||1053|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943C>T|||||1086|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582C>T|||||1718|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|7/11|c.1233+50C>T||||||,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|7/11|c.1233+50C>T||||||,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|8/12|c.1233+50C>T||||||,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|7/11|c.1233+50C>T||||||,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|5/8|n.666+50C>T||||||,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript|5/7|n.538+50C>T||||||,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron|3/4|n.703+50C>T||||||,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript|2/2|n.220+50C>T||||||,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron|3/3|n.652+50C>T|||||| 22 20102062 . A G . . ANN=G|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1T>C|||||2664|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219A>G|||||3395|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1T>C|||||1361|,G|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1T>C|||||1032|WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1T>C|||||741|,G|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1T>C|||||1161|,G|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3T>C|||||731|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248A>G|||||1399|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832A>G|||||1399|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248A>G|||||1399|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227A>G|||||2885|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1A>G|||||2985|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103A>G|||||3009|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94A>G|||||3018|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1A>G|||||3114|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486A>G|||||3243|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174A>G|||||3336|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497A>G|||||3414|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751A>G|||||2668|,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652A>G|||||2664|,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695A>G|||||2667|,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365A>G|||||2667|,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661A>G|||||2662|,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669A>G|||||3278|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582T>C|||||228|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957T>C|||||798|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378T>C|||||810|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060T>C|||||1038|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943T>C|||||1071|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582T>C|||||1703|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|7/11|c.1233+35T>C||||||,G|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|7/11|c.1233+35T>C||||||,G|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|8/12|c.1233+35T>C||||||,G|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|7/11|c.1233+35T>C||||||,G|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|5/8|n.666+35T>C||||||,G|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript|5/7|n.538+35T>C||||||,G|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron|3/4|n.703+35T>C||||||,G|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript|2/2|n.220+35T>C||||||,G|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron|3/3|n.652+35T>C|||||| 22 20102064 . A G . . ANN=G|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1T>C|||||2666|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219A>G|||||3393|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1T>C|||||1363|,G|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1T>C|||||1034|WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1T>C|||||743|,G|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1T>C|||||1163|,G|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3T>C|||||733|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248A>G|||||1397|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832A>G|||||1397|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248A>G|||||1397|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227A>G|||||2883|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1A>G|||||2983|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103A>G|||||3007|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94A>G|||||3016|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1A>G|||||3112|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486A>G|||||3241|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174A>G|||||3334|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497A>G|||||3412|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751A>G|||||2670|,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652A>G|||||2666|,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695A>G|||||2669|,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365A>G|||||2669|,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661A>G|||||2664|,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669A>G|||||3280|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582T>C|||||226|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957T>C|||||796|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378T>C|||||808|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060T>C|||||1036|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943T>C|||||1069|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582T>C|||||1701|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|7/11|c.1233+33T>C||||||,G|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|7/11|c.1233+33T>C||||||,G|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|8/12|c.1233+33T>C||||||,G|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|7/11|c.1233+33T>C||||||,G|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|5/8|n.666+33T>C||||||,G|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript|5/7|n.538+33T>C||||||,G|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron|3/4|n.703+33T>C||||||,G|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript|2/2|n.220+33T>C||||||,G|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron|3/3|n.652+33T>C|||||| 22 20102090 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|7/11|c.1233+7A>G||||||,C|splice_region_variant&intron_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|7/11|c.1233+7A>G||||||,C|splice_region_variant&intron_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|8/12|c.1233+7A>G||||||,C|splice_region_variant&intron_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|7/11|c.1233+7A>G||||||,C|splice_region_variant&intron_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|5/8|n.666+7A>G||||||,C|splice_region_variant&intron_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript|5/7|n.538+7A>G||||||,C|splice_region_variant&intron_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron|3/4|n.703+7A>G||||||,C|splice_region_variant&intron_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript|2/2|n.220+7A>G||||||,C|splice_region_variant&intron_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron|3/3|n.652+7A>G||||||,C|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1A>G|||||2692|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219T>C|||||3367|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1A>G|||||1389|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1A>G|||||1060|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1A>G|||||769|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1A>G|||||1189|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3A>G|||||759|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248T>C|||||1371|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832T>C|||||1371|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248T>C|||||1371|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227T>C|||||2857|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1T>C|||||2957|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103T>C|||||2981|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94T>C|||||2990|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1T>C|||||3086|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486T>C|||||3215|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174T>C|||||3308|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497T>C|||||3386|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751T>C|||||2696|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652T>C|||||2692|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695T>C|||||2695|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365T>C|||||2695|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661T>C|||||2690|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669T>C|||||3306|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582A>G|||||200|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957A>G|||||770|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378A>G|||||782|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060A>G|||||1010|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943A>G|||||1043|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582A>G|||||1675|WARNING_TRANSCRIPT_INCOMPLETE 22 20102103 . G A . . ANN=A|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|7/12|c.1227C>T|p.Phe409Phe|1543/2473|1227/1932|409/643||,A|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|7/12|c.1227C>T|p.Phe409Phe|1616/2964|1227/1878|409/625||,A|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|8/13|c.1227C>T|p.Phe409Phe|1589/2928|1227/1878|409/625||,A|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|7/12|c.1227C>T|p.Phe409Phe|1566/2498|1227/1689|409/562||,A|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1C>T|||||2705|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219G>A|||||3354|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1C>T|||||1402|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1C>T|||||1073|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1C>T|||||782|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1C>T|||||1202|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3C>T|||||772|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248G>A|||||1358|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832G>A|||||1358|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248G>A|||||1358|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227G>A|||||2844|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1G>A|||||2944|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103G>A|||||2968|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94G>A|||||2977|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1G>A|||||3073|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486G>A|||||3202|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174G>A|||||3295|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497G>A|||||3373|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751G>A|||||2709|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652G>A|||||2705|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695G>A|||||2708|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365G>A|||||2708|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661G>A|||||2703|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669G>A|||||3319|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582C>T|||||187|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957C>T|||||757|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378C>T|||||769|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060C>T|||||997|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943C>T|||||1030|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582C>T|||||1662|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|5/9|n.660C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript|5/8|n.532C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron|3/5|n.697C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript|2/3|n.214C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron|3/4|n.646C>T|||||| 22 20102256 . C A . . ANN=A|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1G>T|||||2858|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219C>A|||||3201|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1G>T|||||1555|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1G>T|||||1226|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1G>T|||||935|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1G>T|||||1355|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3G>T|||||925|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248C>A|||||1205|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832C>A|||||1205|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248C>A|||||1205|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227C>A|||||2691|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1C>A|||||2791|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103C>A|||||2815|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94C>A|||||2824|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1C>A|||||2920|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486C>A|||||3049|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174C>A|||||3142|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497C>A|||||3220|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751C>A|||||2862|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652C>A|||||2858|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695C>A|||||2861|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365C>A|||||2861|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661C>A|||||2856|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669C>A|||||3472|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582G>T|||||34|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957G>T|||||604|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378G>T|||||616|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060G>T|||||844|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943G>T|||||877|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582G>T|||||1509|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|6/11|c.1121+28G>T||||||,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|6/11|c.1121+28G>T||||||,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|7/12|c.1121+28G>T||||||,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|6/11|c.1121+28G>T||||||,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|4/8|n.554+28G>T||||||,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript|4/7|n.430+28G>T||||||,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron|2/4|n.591+28G>T||||||,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript|1/2|n.108+28G>T||||||,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron|2/3|n.544+28G>T|||||| 22 20102298 . C A . . ANN=A|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|6/12|c.1107G>T|p.Val369Val|1423/2473|1107/1932|369/643||,A|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|6/12|c.1107G>T|p.Val369Val|1496/2964|1107/1878|369/625||,A|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|7/13|c.1107G>T|p.Val369Val|1469/2928|1107/1878|369/625||,A|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|6/12|c.1107G>T|p.Val369Val|1446/2498|1107/1689|369/562||,A|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1G>T|||||2900|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219C>A|||||3159|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1G>T|||||1597|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1G>T|||||1268|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1G>T|||||977|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1G>T|||||1397|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3G>T|||||967|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248C>A|||||1163|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832C>A|||||1163|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248C>A|||||1163|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227C>A|||||2649|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1C>A|||||2749|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103C>A|||||2773|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94C>A|||||2782|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1C>A|||||2878|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486C>A|||||3007|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174C>A|||||3100|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497C>A|||||3178|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751C>A|||||2904|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652C>A|||||2900|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695C>A|||||2903|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365C>A|||||2903|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661C>A|||||2898|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669C>A|||||3514|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957G>T|||||562|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378G>T|||||574|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060G>T|||||802|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943G>T|||||835|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582G>T|||||1467|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|4/9|n.540G>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript|4/8|n.416G>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron|2/5|n.577G>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript|1/3|n.94G>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron|2/4|n.530G>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron|3/3|n.574G>T|||||| 22 20102308 . A G . . ANN=G|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|6/12|c.1097T>C|p.Leu366Pro|1413/2473|1097/1932|366/643||,G|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|6/12|c.1097T>C|p.Leu366Pro|1486/2964|1097/1878|366/625||,G|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|7/13|c.1097T>C|p.Leu366Pro|1459/2928|1097/1878|366/625||,G|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|6/12|c.1097T>C|p.Leu366Pro|1436/2498|1097/1689|366/562||,G|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1T>C|||||2910|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219A>G|||||3149|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1T>C|||||1607|,G|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1T>C|||||1278|WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1T>C|||||987|,G|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1T>C|||||1407|,G|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3T>C|||||977|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248A>G|||||1153|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832A>G|||||1153|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248A>G|||||1153|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227A>G|||||2639|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1A>G|||||2739|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103A>G|||||2763|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94A>G|||||2772|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1A>G|||||2868|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486A>G|||||2997|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174A>G|||||3090|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497A>G|||||3168|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751A>G|||||2914|,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652A>G|||||2910|,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695A>G|||||2913|,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365A>G|||||2913|,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661A>G|||||2908|,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669A>G|||||3524|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957T>C|||||552|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378T>C|||||564|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060T>C|||||792|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943T>C|||||825|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582T>C|||||1457|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|4/9|n.530T>C||||||,G|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript|4/8|n.406T>C||||||,G|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron|2/5|n.567T>C||||||,G|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript|1/3|n.84T>C||||||,G|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron|2/4|n.520T>C||||||,G|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron|3/3|n.564T>C|||||| 22 20102330 . T C . . ANN=C|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|6/12|c.1075A>G|p.Arg359Gly|1391/2473|1075/1932|359/643||,C|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|6/12|c.1075A>G|p.Arg359Gly|1464/2964|1075/1878|359/625||,C|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|7/13|c.1075A>G|p.Arg359Gly|1437/2928|1075/1878|359/625||,C|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|6/12|c.1075A>G|p.Arg359Gly|1414/2498|1075/1689|359/562||,C|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1A>G|||||2932|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219T>C|||||3127|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1A>G|||||1629|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1A>G|||||1300|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1A>G|||||1009|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1A>G|||||1429|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3A>G|||||999|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248T>C|||||1131|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832T>C|||||1131|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248T>C|||||1131|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227T>C|||||2617|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1T>C|||||2717|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103T>C|||||2741|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94T>C|||||2750|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1T>C|||||2846|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486T>C|||||2975|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174T>C|||||3068|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497T>C|||||3146|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751T>C|||||2936|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652T>C|||||2932|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695T>C|||||2935|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365T>C|||||2935|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661T>C|||||2930|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669T>C|||||3546|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957A>G|||||530|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378A>G|||||542|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060A>G|||||770|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943A>G|||||803|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582A>G|||||1435|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|4/9|n.508A>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript|4/8|n.384A>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron|2/5|n.545A>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript|1/3|n.62A>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron|2/4|n.498A>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron|3/3|n.542A>G|||||| 22 20102360 . G A . . ANN=A|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|6/12|c.1045C>T|p.Leu349Leu|1361/2473|1045/1932|349/643||,A|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|6/12|c.1045C>T|p.Leu349Leu|1434/2964|1045/1878|349/625||,A|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|7/13|c.1045C>T|p.Leu349Leu|1407/2928|1045/1878|349/625||,A|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|6/12|c.1045C>T|p.Leu349Leu|1384/2498|1045/1689|349/562||,A|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1C>T|||||2962|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219G>A|||||3097|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1C>T|||||1659|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1C>T|||||1330|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1C>T|||||1039|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1C>T|||||1459|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3C>T|||||1029|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248G>A|||||1101|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832G>A|||||1101|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248G>A|||||1101|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227G>A|||||2587|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1G>A|||||2687|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103G>A|||||2711|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94G>A|||||2720|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1G>A|||||2816|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486G>A|||||2945|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174G>A|||||3038|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497G>A|||||3116|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751G>A|||||2966|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652G>A|||||2962|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695G>A|||||2965|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365G>A|||||2965|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661G>A|||||2960|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669G>A|||||3576|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957C>T|||||500|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378C>T|||||512|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060C>T|||||740|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943C>T|||||773|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582C>T|||||1405|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|4/9|n.478C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript|4/8|n.354C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron|2/5|n.515C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript|1/3|n.32C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron|2/4|n.468C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron|3/3|n.512C>T|||||| 22 20102364 . G A . . ANN=A|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|6/12|c.1041C>T|p.Thr347Thr|1357/2473|1041/1932|347/643||,A|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|6/12|c.1041C>T|p.Thr347Thr|1430/2964|1041/1878|347/625||,A|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|7/13|c.1041C>T|p.Thr347Thr|1403/2928|1041/1878|347/625||,A|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|6/12|c.1041C>T|p.Thr347Thr|1380/2498|1041/1689|347/562||,A|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1C>T|||||2966|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219G>A|||||3093|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1C>T|||||1663|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1C>T|||||1334|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1C>T|||||1043|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1C>T|||||1463|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3C>T|||||1033|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248G>A|||||1097|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832G>A|||||1097|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248G>A|||||1097|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227G>A|||||2583|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1G>A|||||2683|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103G>A|||||2707|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94G>A|||||2716|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1G>A|||||2812|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486G>A|||||2941|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174G>A|||||3034|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497G>A|||||3112|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751G>A|||||2970|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652G>A|||||2966|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695G>A|||||2969|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365G>A|||||2969|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661G>A|||||2964|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669G>A|||||3580|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957C>T|||||496|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378C>T|||||508|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060C>T|||||736|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943C>T|||||769|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582C>T|||||1401|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|4/9|n.474C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript|4/8|n.350C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron|2/5|n.511C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript|1/3|n.28C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron|2/4|n.464C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron|3/3|n.508C>T|||||| 22 20102750 . C T . . ANN=T|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1G>A|||||3352|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219C>T|||||2707|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1G>A|||||2049|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1G>A|||||1720|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1G>A|||||1429|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1G>A|||||1849|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3G>A|||||1419|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.-1G>A|||||359|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248C>T|||||711|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832C>T|||||711|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248C>T|||||711|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227C>T|||||2197|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1C>T|||||2297|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103C>T|||||2321|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94C>T|||||2330|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1C>T|||||2426|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486C>T|||||2555|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174C>T|||||2648|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497C>T|||||2726|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751C>T|||||3356|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652C>T|||||3352|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695C>T|||||3355|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365C>T|||||3355|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661C>T|||||3350|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669C>T|||||3966|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957G>A|||||110|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378G>A|||||122|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060G>A|||||350|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943G>A|||||383|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582G>A|||||1015|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|4/11|c.890+39G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|4/11|c.890+39G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|5/12|c.890+39G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|4/11|c.890+39G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|2/8|n.323+39G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript|2/7|n.199+39G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron|1/2|n.357+39G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron|1/5|n.213G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron|1/4|n.166G>A|||||| 22 20102789 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|4/12|c.890G>A|p.Arg297Gln|1206/2473|890/1932|297/643||,T|missense_variant&splice_region_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|4/12|c.890G>A|p.Arg297Gln|1279/2964|890/1878|297/625||,T|missense_variant&splice_region_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|5/13|c.890G>A|p.Arg297Gln|1252/2928|890/1878|297/625||,T|missense_variant&splice_region_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|4/12|c.890G>A|p.Arg297Gln|1229/2498|890/1689|297/562||,T|splice_region_variant&non_coding_exon_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|2/9|n.323G>A||||||,T|splice_region_variant&non_coding_exon_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript|2/8|n.199G>A||||||,T|splice_region_variant&non_coding_exon_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron|1/3|n.357G>A||||||,T|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1G>A|||||3391|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219C>T|||||2668|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1G>A|||||2088|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1G>A|||||1759|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1G>A|||||1468|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1G>A|||||1888|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3G>A|||||1458|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.-1G>A|||||398|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248C>T|||||672|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832C>T|||||672|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248C>T|||||672|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227C>T|||||2158|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1C>T|||||2258|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103C>T|||||2282|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94C>T|||||2291|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1C>T|||||2387|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486C>T|||||2516|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174C>T|||||2609|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497C>T|||||2687|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751C>T|||||3395|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652C>T|||||3391|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695C>T|||||3394|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365C>T|||||3394|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661C>T|||||3389|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669C>T|||||4005|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957G>A|||||71|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378G>A|||||83|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060G>A|||||311|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943G>A|||||344|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582G>A|||||976|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron|1/5|n.174G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron|1/4|n.127G>A|||||| 22 20102842 . C T . . ANN=T|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|4/12|c.837G>A|p.Val279Val|1153/2473|837/1932|279/643||,T|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|4/12|c.837G>A|p.Val279Val|1226/2964|837/1878|279/625||,T|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|5/13|c.837G>A|p.Val279Val|1199/2928|837/1878|279/625||,T|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|4/12|c.837G>A|p.Val279Val|1176/2498|837/1689|279/562||,T|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1G>A|||||3444|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219C>T|||||2615|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1G>A|||||2141|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1G>A|||||1812|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1G>A|||||1521|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1G>A|||||1941|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3G>A|||||1511|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.-1G>A|||||451|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248C>T|||||619|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832C>T|||||619|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248C>T|||||619|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227C>T|||||2105|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1C>T|||||2205|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103C>T|||||2229|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94C>T|||||2238|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1C>T|||||2334|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486C>T|||||2463|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174C>T|||||2556|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497C>T|||||2634|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751C>T|||||3448|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652C>T|||||3444|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695C>T|||||3447|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365C>T|||||3447|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661C>T|||||3442|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669C>T|||||4058|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957G>A|||||18|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378G>A|||||30|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060G>A|||||258|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943G>A|||||291|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582G>A|||||923|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|2/9|n.270G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript|2/8|n.146G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron|1/5|n.121G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron|1/4|n.74G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron|1/3|n.304G>A|||||| 22 20102855 . G A . . ANN=A|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|4/12|c.824C>T|p.Pro275Leu|1140/2473|824/1932|275/643||,A|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|4/12|c.824C>T|p.Pro275Leu|1213/2964|824/1878|275/625||,A|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|5/13|c.824C>T|p.Pro275Leu|1186/2928|824/1878|275/625||,A|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|4/12|c.824C>T|p.Pro275Leu|1163/2498|824/1689|275/562||,A|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1C>T|||||3457|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219G>A|||||2602|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1C>T|||||2154|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1C>T|||||1825|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1C>T|||||1534|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1C>T|||||1954|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3C>T|||||1524|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.-1C>T|||||464|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248G>A|||||606|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832G>A|||||606|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248G>A|||||606|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227G>A|||||2092|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1G>A|||||2192|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103G>A|||||2216|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94G>A|||||2225|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1G>A|||||2321|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486G>A|||||2450|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174G>A|||||2543|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497G>A|||||2621|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751G>A|||||3461|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652G>A|||||3457|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695G>A|||||3460|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365G>A|||||3460|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661G>A|||||3455|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669G>A|||||4071|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957C>T|||||5|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378C>T|||||17|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060C>T|||||245|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943C>T|||||278|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582C>T|||||910|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|2/9|n.257C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript|2/8|n.133C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron|1/5|n.108C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron|1/4|n.61C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron|1/3|n.291C>T|||||| 22 20102871 . A C . . ANN=C|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|4/12|c.808T>G|p.Cys270Gly|1124/2473|808/1932|270/643||,C|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|4/12|c.808T>G|p.Cys270Gly|1197/2964|808/1878|270/625||,C|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|5/13|c.808T>G|p.Cys270Gly|1170/2928|808/1878|270/625||,C|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|4/12|c.808T>G|p.Cys270Gly|1147/2498|808/1689|270/562||,C|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1T>G|||||3473|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219A>C|||||2586|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1T>G|||||2170|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1T>G|||||1841|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1T>G|||||1550|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1T>G|||||1970|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3T>G|||||1540|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.-1T>G|||||480|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248A>C|||||590|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832A>C|||||590|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248A>C|||||590|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227A>C|||||2076|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1A>C|||||2176|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103A>C|||||2200|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94A>C|||||2209|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1A>C|||||2305|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486A>C|||||2434|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174A>C|||||2527|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497A>C|||||2605|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751A>C|||||3477|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652A>C|||||3473|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695A>C|||||3476|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365A>C|||||3476|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661A>C|||||3471|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669A>C|||||4087|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378T>G|||||1|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060T>G|||||229|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943T>G|||||262|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582T>G|||||894|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|2/9|n.241T>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript|2/8|n.117T>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron|1/5|n.92T>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron|1/4|n.45T>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron|1/3|n.275T>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron|2/2|n.946T>G|||||| 22 20103012 . G A . . ANN=A|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1C>T|||||3614|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219G>A|||||2445|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1C>T|||||2311|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1C>T|||||1982|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1C>T|||||1691|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1C>T|||||2111|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3C>T|||||1681|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.-1C>T|||||50|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.-1C>T|||||621|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.-1C>T|||||97|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248G>A|||||449|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832G>A|||||449|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248G>A|||||449|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227G>A|||||1935|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1G>A|||||2035|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103G>A|||||2059|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94G>A|||||2068|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1G>A|||||2164|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486G>A|||||2293|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174G>A|||||2386|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497G>A|||||2464|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751G>A|||||3618|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652G>A|||||3614|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695G>A|||||3617|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365G>A|||||3617|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661G>A|||||3612|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669G>A|||||4228|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060C>T|||||88|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943C>T|||||121|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582C>T|||||753|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|3/11|c.709-42C>T||||||,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|3/11|c.709-42C>T||||||,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|4/12|c.709-42C>T||||||,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|3/11|c.709-42C>T||||||,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|1/8|n.142-42C>T||||||,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript|1/7|n.18-42C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron|1/3|n.134C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron|2/2|n.805C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript|3/3|n.238C>T|||||| 22 20103158 . A G . . ANN=G|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1T>C|||||3760|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219A>G|||||2299|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1T>C|||||2457|,G|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1T>C|||||2128|WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1T>C|||||1837|,G|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1T>C|||||2257|,G|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3T>C|||||1827|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.-1T>C|||||196|,G|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.-1T>C|||||767|,G|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.-1T>C|||||243|,G|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.-1T>C|||||13|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248A>G|||||303|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832A>G|||||303|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248A>G|||||303|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227A>G|||||1789|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1A>G|||||1889|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103A>G|||||1913|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94A>G|||||1922|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1A>G|||||2018|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486A>G|||||2147|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174A>G|||||2240|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497A>G|||||2318|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751A>G|||||3764|,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652A>G|||||3760|,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695A>G|||||3763|,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365A>G|||||3763|,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661A>G|||||3758|,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669A>G|||||4374|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582T>C|||||607|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|3/11|c.708+37T>C||||||,G|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|3/11|c.708+37T>C||||||,G|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|4/12|c.708+37T>C||||||,G|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|3/11|c.708+37T>C||||||,G|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|1/8|n.141+37T>C||||||,G|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript|1/7|n.17+37T>C||||||,G|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript|2/2|n.172+37T>C||||||,G|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron|2/2|n.659T>C||||||,G|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron|3/3|n.1002T>C||||||,G|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron|4/4|n.918T>C|||||| 22 20103189 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|3/11|c.708+6A>G||||||,C|splice_region_variant&intron_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|3/11|c.708+6A>G||||||,C|splice_region_variant&intron_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|4/12|c.708+6A>G||||||,C|splice_region_variant&intron_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|3/11|c.708+6A>G||||||,C|splice_region_variant&intron_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|1/8|n.141+6A>G||||||,C|splice_region_variant&intron_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript|1/7|n.17+6A>G||||||,C|splice_region_variant&intron_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript|2/2|n.172+6A>G||||||,C|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1A>G|||||3791|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219T>C|||||2268|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1A>G|||||2488|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1A>G|||||2159|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1A>G|||||1868|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1A>G|||||2288|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3A>G|||||1858|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.-1A>G|||||227|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.-1A>G|||||798|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.-1A>G|||||274|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.-1A>G|||||44|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248T>C|||||272|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832T>C|||||272|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248T>C|||||272|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227T>C|||||1758|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1T>C|||||1858|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103T>C|||||1882|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94T>C|||||1891|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1T>C|||||1987|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486T>C|||||2116|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174T>C|||||2209|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497T>C|||||2287|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751T>C|||||3795|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652T>C|||||3791|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695T>C|||||3794|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365T>C|||||3794|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661T>C|||||3789|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669T>C|||||4405|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582A>G|||||576|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron|2/2|n.628A>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron|3/3|n.971A>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron|4/4|n.887A>G|||||| 22 20103253 . C T . . ANN=T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|3/12|c.650G>A|p.Arg217Lys|966/2473|650/1932|217/643||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|3/12|c.650G>A|p.Arg217Lys|1039/2964|650/1878|217/625||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|4/13|c.650G>A|p.Arg217Lys|1012/2928|650/1878|217/625||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|3/12|c.650G>A|p.Arg217Lys|989/2498|650/1689|217/562||,T|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1G>A|||||3855|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219C>T|||||2204|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1G>A|||||2552|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1G>A|||||2223|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1G>A|||||1932|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1G>A|||||2352|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3G>A|||||1922|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.-1G>A|||||42|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.-1G>A|||||291|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.-1G>A|||||862|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.-1G>A|||||338|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.-1G>A|||||108|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248C>T|||||208|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832C>T|||||208|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248C>T|||||208|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227C>T|||||1694|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1C>T|||||1794|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103C>T|||||1818|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94C>T|||||1827|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1C>T|||||1923|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486C>T|||||2052|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174C>T|||||2145|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497C>T|||||2223|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751C>T|||||3859|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652C>T|||||3855|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695C>T|||||3858|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365C>T|||||3858|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661C>T|||||3853|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669C>T|||||4469|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582G>A|||||512|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|1/9|n.83G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron|2/2|n.564G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript|2/3|n.114G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron|3/3|n.907G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron|4/4|n.823G>A|||||| 22 20103263 . G T . . ANN=T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|3/12|c.640C>A|p.Leu214Ile|956/2473|640/1932|214/643||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|3/12|c.640C>A|p.Leu214Ile|1029/2964|640/1878|214/625||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|4/13|c.640C>A|p.Leu214Ile|1002/2928|640/1878|214/625||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|3/12|c.640C>A|p.Leu214Ile|979/2498|640/1689|214/562||,T|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1C>A|||||3865|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219G>T|||||2194|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1C>A|||||2562|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1C>A|||||2233|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1C>A|||||1942|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1C>A|||||2362|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3C>A|||||1932|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.-1C>A|||||52|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.-1C>A|||||301|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.-1C>A|||||872|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.-1C>A|||||348|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.-1C>A|||||118|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248G>T|||||198|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832G>T|||||198|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248G>T|||||198|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227G>T|||||1684|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1G>T|||||1784|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103G>T|||||1808|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94G>T|||||1817|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1G>T|||||1913|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486G>T|||||2042|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174G>T|||||2135|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497G>T|||||2213|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751G>T|||||3869|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652G>T|||||3865|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695G>T|||||3868|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365G>T|||||3868|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661G>T|||||3863|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669G>T|||||4479|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582C>A|||||502|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|1/9|n.73C>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron|2/2|n.554C>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript|2/3|n.104C>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron|3/3|n.897C>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron|4/4|n.813C>A|||||| 22 20103264 . C T . . ANN=T|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|3/12|c.639G>A|p.Leu213Leu|955/2473|639/1932|213/643||,T|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|3/12|c.639G>A|p.Leu213Leu|1028/2964|639/1878|213/625||,T|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|4/13|c.639G>A|p.Leu213Leu|1001/2928|639/1878|213/625||,T|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|3/12|c.639G>A|p.Leu213Leu|978/2498|639/1689|213/562||,T|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1G>A|||||3866|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219C>T|||||2193|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1G>A|||||2563|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1G>A|||||2234|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1G>A|||||1943|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1G>A|||||2363|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3G>A|||||1933|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.-1G>A|||||53|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.-1G>A|||||302|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.-1G>A|||||873|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.-1G>A|||||349|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.-1G>A|||||119|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248C>T|||||197|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832C>T|||||197|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248C>T|||||197|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227C>T|||||1683|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1C>T|||||1783|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103C>T|||||1807|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94C>T|||||1816|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1C>T|||||1912|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486C>T|||||2041|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174C>T|||||2134|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497C>T|||||2212|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751C>T|||||3870|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652C>T|||||3866|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695C>T|||||3869|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365C>T|||||3869|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661C>T|||||3864|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669C>T|||||4480|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582G>A|||||501|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|1/9|n.72G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron|2/2|n.553G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript|2/3|n.103G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron|3/3|n.896G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron|4/4|n.812G>A|||||| 22 20103344 . C T . . ANN=T|sequence_feature|LOW|TRMT2A|ENSG00000099899|coiled-coil_region|ENST00000403707|protein_coding|4/13|c.600-41G>A||||||,T|sequence_feature|LOW|TRMT2A|ENSG00000099899|coiled-coil_region|ENST00000403707|protein_coding|3/13|c.600-41G>A||||||,T|sequence_feature|LOW|TRMT2A|ENSG00000099899|coiled-coil_region|ENST00000404751|protein_coding|3/12|c.600-41G>A||||||,T|sequence_feature|LOW|TRMT2A|ENSG00000099899|coiled-coil_region|ENST00000404751|protein_coding|2/12|c.600-41G>A||||||,T|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1G>A|||||3946|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219C>T|||||2113|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1G>A|||||2643|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1G>A|||||2314|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1G>A|||||2023|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1G>A|||||2443|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3G>A|||||2013|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron||n.-1G>A|||||9|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.-1G>A|||||133|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.-1G>A|||||382|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.-1G>A|||||953|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.-1G>A|||||429|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.-1G>A|||||199|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248C>T|||||117|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832C>T|||||117|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248C>T|||||117|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227C>T|||||1603|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1C>T|||||1703|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103C>T|||||1727|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94C>T|||||1736|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1C>T|||||1832|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486C>T|||||1961|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174C>T|||||2054|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497C>T|||||2132|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751C>T|||||3950|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652C>T|||||3946|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695C>T|||||3949|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365C>T|||||3949|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661C>T|||||3944|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669C>T|||||4560|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582G>A|||||421|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|2/11|c.600-41G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|2/11|c.600-41G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|3/12|c.600-41G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|2/11|c.600-41G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron|1/1|n.514-41G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript|1/2|n.64-41G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron|2/2|n.857-41G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron|3/3|n.773-41G>A|||||| 22 20103539 . G A . . ANN=A|sequence_feature|LOW|TRMT2A|ENSG00000099899|coiled-coil_region|ENST00000403707|protein_coding|4/13|c.599+22C>T||||||,A|sequence_feature|LOW|TRMT2A|ENSG00000099899|coiled-coil_region|ENST00000403707|protein_coding|3/13|c.599+22C>T||||||,A|sequence_feature|LOW|TRMT2A|ENSG00000099899|coiled-coil_region|ENST00000404751|protein_coding|3/12|c.599+22C>T||||||,A|sequence_feature|LOW|TRMT2A|ENSG00000099899|coiled-coil_region|ENST00000404751|protein_coding|2/12|c.599+22C>T||||||,A|5_prime_UTR_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding|1/3|c.-169G>A|||||169|WARNING_TRANSCRIPT_INCOMPLETE,A|5_prime_UTR_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding|1/6|c.-753G>A|||||6642|,A|5_prime_UTR_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay|1/6|n.-169G>A|||||169|,A|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1C>T|||||4141|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219G>A|||||1918|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1C>T|||||2838|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1C>T|||||2509|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1C>T|||||2218|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1C>T|||||2638|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3C>T|||||2208|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron||n.-1C>T|||||204|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.-1C>T|||||328|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.-1C>T|||||577|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.-1C>T|||||1148|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.-1C>T|||||624|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.-1C>T|||||394|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227G>A|||||1408|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1G>A|||||1508|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103G>A|||||1532|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94G>A|||||1541|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1G>A|||||1637|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486G>A|||||1766|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174G>A|||||1859|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497G>A|||||1937|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751G>A|||||4145|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652G>A|||||4141|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695G>A|||||4144|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365G>A|||||4144|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661G>A|||||4139|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669G>A|||||4755|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582C>T|||||226|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|2/11|c.599+22C>T||||||,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|2/11|c.599+22C>T||||||,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|3/12|c.599+22C>T||||||,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|2/11|c.599+22C>T||||||,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron|1/1|n.513+22C>T||||||,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript|1/2|n.63+22C>T||||||,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron|2/2|n.856+42C>T||||||,A|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron|3/3|n.772+22C>T||||||,A|non_coding_exon_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay|1/6|n.-169G>A|||||| 22 20103604 . G A . . ANN=A|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|2/12|c.556C>T|p.Arg186Trp|872/2473|556/1932|186/643||,A|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|2/12|c.556C>T|p.Arg186Trp|945/2964|556/1878|186/625||,A|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|3/13|c.556C>T|p.Arg186Trp|918/2928|556/1878|186/625||,A|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|2/12|c.556C>T|p.Arg186Trp|895/2498|556/1689|186/562||,A|sequence_feature|LOW|TRMT2A|ENSG00000099899|coiled-coil_region|ENST00000403707|protein_coding|4/13|c.556C>T||||||,A|sequence_feature|LOW|TRMT2A|ENSG00000099899|coiled-coil_region|ENST00000403707|protein_coding|3/13|c.556C>T||||||,A|sequence_feature|LOW|TRMT2A|ENSG00000099899|coiled-coil_region|ENST00000404751|protein_coding|3/12|c.556C>T||||||,A|sequence_feature|LOW|TRMT2A|ENSG00000099899|coiled-coil_region|ENST00000404751|protein_coding|2/12|c.556C>T||||||,A|5_prime_UTR_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding|1/3|c.-104G>A|||||104|WARNING_TRANSCRIPT_INCOMPLETE,A|5_prime_UTR_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding|1/6|c.-688G>A|||||6577|,A|5_prime_UTR_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay|1/6|n.-104G>A|||||104|,A|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1C>T|||||4206|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219G>A|||||1853|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1C>T|||||2903|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1C>T|||||2574|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1C>T|||||2283|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1C>T|||||2703|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3C>T|||||2273|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron||n.-1C>T|||||269|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.-1C>T|||||393|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.-1C>T|||||642|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.-1C>T|||||1213|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.-1C>T|||||689|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.-1C>T|||||459|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227G>A|||||1343|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1G>A|||||1443|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103G>A|||||1467|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94G>A|||||1476|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1G>A|||||1572|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486G>A|||||1701|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174G>A|||||1794|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497G>A|||||1872|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751G>A|||||4210|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652G>A|||||4206|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695G>A|||||4209|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365G>A|||||4209|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661G>A|||||4204|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669G>A|||||4820|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582C>T|||||161|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron|1/2|n.470C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript|1/3|n.20C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron|2/3|n.833C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron|3/4|n.729C>T||||||,A|non_coding_exon_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay|1/6|n.-104G>A|||||| 22 20103736 . G A . . ANN=A|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|2/12|c.424C>T|p.Arg142Cys|740/2473|424/1932|142/643||,A|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|2/12|c.424C>T|p.Arg142Cys|813/2964|424/1878|142/625||,A|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|3/13|c.424C>T|p.Arg142Cys|786/2928|424/1878|142/625||,A|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|2/12|c.424C>T|p.Arg142Cys|763/2498|424/1689|142/562||,A|missense_variant|MODERATE|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding|1/3|c.29G>A|p.Arg10His|276/744|29/497|10/164||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|TRMT2A|ENSG00000099899|domain:RRM|ENST00000403707|protein_coding|3/13|c.424C>T||||||,A|sequence_feature|LOW|TRMT2A|ENSG00000099899|domain:RRM|ENST00000404751|protein_coding|2/12|c.424C>T||||||,A|5_prime_UTR_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding|1/6|c.-556G>A|||||6445|,A|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1C>T|||||4338|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219G>A|||||1721|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1C>T|||||3035|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1C>T|||||2706|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1C>T|||||2415|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1C>T|||||2835|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3C>T|||||2405|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron||n.-1C>T|||||401|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.-1C>T|||||525|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.-1C>T|||||774|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.-1C>T|||||1345|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.-1C>T|||||821|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.-1C>T|||||591|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.-1C>T|||||113|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227G>A|||||1211|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1G>A|||||1311|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103G>A|||||1335|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94G>A|||||1344|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1G>A|||||1440|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486G>A|||||1569|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174G>A|||||1662|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497G>A|||||1740|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751G>A|||||4342|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652G>A|||||4338|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695G>A|||||4341|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365G>A|||||4341|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661G>A|||||4336|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669G>A|||||4952|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582C>T|||||29|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron|1/2|n.338C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron|2/3|n.701C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron|3/4|n.597C>T||||||,A|non_coding_exon_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay|1/6|n.29G>A|||||| 22 20103750 . C T . . ANN=T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|2/12|c.410G>A|p.Arg137His|726/2473|410/1932|137/643||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|2/12|c.410G>A|p.Arg137His|799/2964|410/1878|137/625||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|3/13|c.410G>A|p.Arg137His|772/2928|410/1878|137/625||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|2/12|c.410G>A|p.Arg137His|749/2498|410/1689|137/562||,T|missense_variant|MODERATE|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding|1/3|c.43C>T|p.Arg15Trp|290/744|43/497|15/164||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|TRMT2A|ENSG00000099899|domain:RRM|ENST00000403707|protein_coding|3/13|c.410G>A||||||,T|sequence_feature|LOW|TRMT2A|ENSG00000099899|domain:RRM|ENST00000404751|protein_coding|2/12|c.410G>A||||||,T|5_prime_UTR_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding|1/6|c.-542C>T|||||6431|,T|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1G>A|||||4352|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219C>T|||||1707|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1G>A|||||3049|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1G>A|||||2720|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1G>A|||||2429|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1G>A|||||2849|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3G>A|||||2419|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron||n.-1G>A|||||415|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.-1G>A|||||539|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.-1G>A|||||788|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.-1G>A|||||1359|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.-1G>A|||||835|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.-1G>A|||||605|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.-1G>A|||||127|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227C>T|||||1197|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1C>T|||||1297|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103C>T|||||1321|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94C>T|||||1330|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1C>T|||||1426|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486C>T|||||1555|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174C>T|||||1648|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497C>T|||||1726|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751C>T|||||4356|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652C>T|||||4352|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695C>T|||||4355|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365C>T|||||4355|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661C>T|||||4350|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669C>T|||||4966|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582G>A|||||15|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron|1/2|n.324G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron|2/3|n.687G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron|3/4|n.583G>A||||||,T|non_coding_exon_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay|1/6|n.43C>T|||||| 22 20103803 . A C . . ANN=C|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|2/12|c.357T>G|p.Ala119Ala|673/2473|357/1932|119/643||,C|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|2/12|c.357T>G|p.Ala119Ala|746/2964|357/1878|119/625||,C|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|3/13|c.357T>G|p.Ala119Ala|719/2928|357/1878|119/625||,C|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|2/12|c.357T>G|p.Ala119Ala|696/2498|357/1689|119/562||,C|synonymous_variant|LOW|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding|1/3|c.96A>C|p.Ala32Ala|343/744|96/497|32/164||WARNING_TRANSCRIPT_INCOMPLETE,C|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding|2/2|c.321T>G|p.Ala107Ala|544/582|321/359|107/118||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|TRMT2A|ENSG00000099899|domain:RRM|ENST00000403707|protein_coding|3/13|c.357T>G||||||,C|sequence_feature|LOW|TRMT2A|ENSG00000099899|domain:RRM|ENST00000404751|protein_coding|2/12|c.357T>G||||||,C|5_prime_UTR_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding|1/6|c.-489A>C|||||6378|,C|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1T>G|||||4405|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219A>C|||||1654|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1T>G|||||3102|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1T>G|||||2773|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1T>G|||||2482|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1T>G|||||2902|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3T>G|||||2472|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron||n.-1T>G|||||468|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.-1T>G|||||592|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.-1T>G|||||841|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.-1T>G|||||1412|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.-1T>G|||||888|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.-1T>G|||||658|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.-1T>G|||||180|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227A>C|||||1144|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1A>C|||||1244|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103A>C|||||1268|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94A>C|||||1277|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1A>C|||||1373|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486A>C|||||1502|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174A>C|||||1595|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497A>C|||||1673|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751A>C|||||4409|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652A>C|||||4405|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695A>C|||||4408|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365A>C|||||4408|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661A>C|||||4403|,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron|1/2|n.271T>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron|2/3|n.634T>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron|3/4|n.530T>G||||||,C|non_coding_exon_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay|1/6|n.96A>C|||||| 22 20103915 . C T . . ANN=T|stop_gained|HIGH|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding|1/3|c.208C>T|p.Arg70*|455/744|208/497|70/164||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|2/12|c.245G>A|p.Arg82His|561/2473|245/1932|82/643||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|2/12|c.245G>A|p.Arg82His|634/2964|245/1878|82/625||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|3/13|c.245G>A|p.Arg82His|607/2928|245/1878|82/625||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|2/12|c.245G>A|p.Arg82His|584/2498|245/1689|82/562||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding|2/2|c.209G>A|p.Arg70His|432/582|209/359|70/118||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|TRMT2A|ENSG00000099899|domain:RRM|ENST00000403707|protein_coding|3/13|c.245G>A||||||,T|sequence_feature|LOW|TRMT2A|ENSG00000099899|domain:RRM|ENST00000404751|protein_coding|2/12|c.245G>A||||||,T|5_prime_UTR_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding|1/6|c.-377C>T|||||6266|,T|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1G>A|||||4517|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219C>T|||||1542|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1G>A|||||3214|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1G>A|||||2885|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1G>A|||||2594|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1G>A|||||3014|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3G>A|||||2584|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron||n.-1G>A|||||580|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.-1G>A|||||704|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.-1G>A|||||953|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.-1G>A|||||1524|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.-1G>A|||||1000|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.-1G>A|||||770|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.-1G>A|||||292|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227C>T|||||1032|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1C>T|||||1132|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103C>T|||||1156|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94C>T|||||1165|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1C>T|||||1261|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486C>T|||||1390|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174C>T|||||1483|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497C>T|||||1561|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751C>T|||||4521|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652C>T|||||4517|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695C>T|||||4520|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365C>T|||||4520|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661C>T|||||4515|,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron|1/2|n.159G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron|2/3|n.522G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron|3/4|n.418G>A||||||,T|non_coding_exon_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay|1/6|n.208C>T||||||;LOF=(RANBP1|ENSG00000099901|14|0.07);NMD=(RANBP1|ENSG00000099901|14|0.07) 22 20103925 . T C . . ANN=C|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|2/12|c.235A>G|p.Asn79Asp|551/2473|235/1932|79/643||,C|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|2/12|c.235A>G|p.Asn79Asp|624/2964|235/1878|79/625||,C|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|3/13|c.235A>G|p.Asn79Asp|597/2928|235/1878|79/625||,C|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|2/12|c.235A>G|p.Asn79Asp|574/2498|235/1689|79/562||,C|missense_variant|MODERATE|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding|1/3|c.218T>C|p.Phe73Ser|465/744|218/497|73/164||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding|2/2|c.199A>G|p.Asn67Asp|422/582|199/359|67/118||WARNING_TRANSCRIPT_INCOMPLETE,C|splice_region_variant&intron_variant|LOW|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding|1/5|c.-374+7T>C||||||,C|splice_region_variant&intron_variant|LOW|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay|1/5|n.211+7T>C||||||,C|sequence_feature|LOW|TRMT2A|ENSG00000099899|domain:RRM|ENST00000403707|protein_coding|3/13|c.235A>G||||||,C|sequence_feature|LOW|TRMT2A|ENSG00000099899|domain:RRM|ENST00000404751|protein_coding|2/12|c.235A>G||||||,C|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1A>G|||||4527|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219T>C|||||1532|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1A>G|||||3224|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1A>G|||||2895|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1A>G|||||2604|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1A>G|||||3024|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3A>G|||||2594|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron||n.-1A>G|||||590|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.-1A>G|||||714|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.-1A>G|||||963|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.-1A>G|||||1534|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.-1A>G|||||1010|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.-1A>G|||||780|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.-1A>G|||||302|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227T>C|||||1022|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1T>C|||||1122|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103T>C|||||1146|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94T>C|||||1155|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1T>C|||||1251|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486T>C|||||1380|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174T>C|||||1473|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497T>C|||||1551|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751T>C|||||4531|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652T>C|||||4527|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695T>C|||||4530|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365T>C|||||4530|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661T>C|||||4525|,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron|1/2|n.149A>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron|2/3|n.512A>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron|3/4|n.408A>G|||||| 22 20103953 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding|1/3|c.246G>A|p.Glu82Glu|493/744|246/497|82/164||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|2/12|c.207C>T|p.Thr69Thr|523/2473|207/1932|69/643||,A|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|2/12|c.207C>T|p.Thr69Thr|596/2964|207/1878|69/625||,A|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|3/13|c.207C>T|p.Thr69Thr|569/2928|207/1878|69/625||,A|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|2/12|c.207C>T|p.Thr69Thr|546/2498|207/1689|69/562||,A|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding|2/2|c.171C>T|p.Thr57Thr|394/582|171/359|57/118||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1C>T|||||4555|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219G>A|||||1504|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1C>T|||||3252|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1C>T|||||2923|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1C>T|||||2632|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1C>T|||||3052|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3C>T|||||2622|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron||n.-1C>T|||||618|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.-1C>T|||||742|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.-1C>T|||||991|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.-1C>T|||||1562|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.-1C>T|||||1038|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.-1C>T|||||808|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.-1C>T|||||330|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227G>A|||||994|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1G>A|||||1094|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103G>A|||||1118|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94G>A|||||1127|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1G>A|||||1223|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486G>A|||||1352|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174G>A|||||1445|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497G>A|||||1523|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751G>A|||||4559|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652G>A|||||4555|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695G>A|||||4558|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365G>A|||||4558|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661G>A|||||4553|,A|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding|1/5|c.-374+35G>A||||||,A|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay|1/5|n.211+35G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron|1/2|n.121C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron|2/3|n.484C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron|3/4|n.380C>T|||||| 22 20104101 . C T . . ANN=T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|2/12|c.59G>A|p.Ser20Asn|375/2473|59/1932|20/643||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|2/12|c.59G>A|p.Ser20Asn|448/2964|59/1878|20/625||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|3/13|c.59G>A|p.Ser20Asn|421/2928|59/1878|20/625||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|2/12|c.59G>A|p.Ser20Asn|398/2498|59/1689|20/562||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding|2/2|c.23G>A|p.Ser8Asn|246/582|23/359|8/118||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1G>A|||||4703|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219C>T|||||1356|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1G>A|||||3400|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1G>A|||||3071|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1G>A|||||2780|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1G>A|||||3200|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3G>A|||||2770|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron||n.-1G>A|||||766|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.-1G>A|||||890|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.-1G>A|||||1139|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.-1G>A|||||1710|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.-1G>A|||||1186|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.-1G>A|||||956|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.-1G>A|||||28|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.-1G>A|||||478|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227C>T|||||846|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1C>T|||||946|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103C>T|||||970|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94C>T|||||979|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1C>T|||||1075|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486C>T|||||1204|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174C>T|||||1297|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497C>T|||||1375|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751C>T|||||4707|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652C>T|||||4703|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695C>T|||||4706|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365C>T|||||4706|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661C>T|||||4701|,T|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding|1/2|c.246+148C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding|1/5|c.-374+183C>T||||||,T|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay|1/5|n.211+183C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron|2/3|n.336G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron|3/4|n.232G>A|||||| 22 20104146 . A C . . ANN=C|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1T>G|||||4748|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219A>C|||||1311|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1T>G|||||3445|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1T>G|||||3116|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1T>G|||||2825|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1T>G|||||3245|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3T>G|||||2815|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron||n.-1T>G|||||811|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.-1T>G|||||935|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.-1T>G|||||1184|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.-1T>G|||||1755|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.-1T>G|||||1231|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.-1T>G|||||1001|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.-1T>G|||||73|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.-1T>G|||||523|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227A>C|||||801|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1A>C|||||901|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103A>C|||||925|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94A>C|||||934|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1A>C|||||1030|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486A>C|||||1159|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174A>C|||||1252|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497A>C|||||1330|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751A>C|||||4752|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652A>C|||||4748|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695A>C|||||4751|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365A>C|||||4751|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661A>C|||||4746|,C|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|1/11|c.25-11T>G||||||,C|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|1/11|c.25-11T>G||||||,C|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|2/12|c.25-11T>G||||||,C|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|1/11|c.25-11T>G||||||,C|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron|1/2|n.302-11T>G||||||,C|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron|2/3|n.198-11T>G||||||,C|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding|1/2|c.246+193A>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding|1/5|c.-374+228A>C||||||,C|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay|1/5|n.211+228A>C||||||,C|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding|1/1|c.-12-11T>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 20104430 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|1/12|c.-1G>A|||||1|,T|5_prime_UTR_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|1/12|c.-1G>A|||||1|,T|5_prime_UTR_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|2/13|c.-1G>A|||||1|,T|5_prime_UTR_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|1/12|c.-1G>A|||||1|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219C>T|||||1027|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1G>A|||||3729|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1G>A|||||3400|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1G>A|||||3109|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1G>A|||||3529|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3G>A|||||3099|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron||n.-1G>A|||||1095|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.-1G>A|||||1219|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.-1G>A|||||1468|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.-1G>A|||||2039|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.-1G>A|||||1515|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.-1G>A|||||1285|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.-1G>A|||||357|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.-1G>A|||||807|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227C>T|||||517|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1C>T|||||617|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103C>T|||||641|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94C>T|||||650|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1C>T|||||746|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486C>T|||||875|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174C>T|||||968|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497C>T|||||1046|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding|1/2|c.246+477C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding|1/5|c.-374+512C>T||||||,T|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay|1/5|n.211+512C>T||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding|1/1|c.-13+122G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron|1/3|n.277G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron|2/4|n.173G>A|||||| 22 20106681 . G A . . ANN=A|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000402752|protein_coding|2/6|c.152+9G>A||||||,A|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000402752|protein_coding|3/6|c.152+9G>A||||||,A|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000402752|protein_coding|5/6|c.152+9G>A||||||,A|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000402752|protein_coding|4/6|c.152+9G>A||||||,A|sequence_feature|LOW|RANBP1|ENSG00000099901|beta_strand|ENST00000402752|protein_coding|2/6|c.152+9G>A||||||,A|sequence_feature|LOW|RANBP1|ENSG00000099901|beta_strand|ENST00000402752|protein_coding|3/6|c.152+9G>A||||||,A|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000331821|protein_coding|2/6|c.152+9G>A||||||,A|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000331821|protein_coding|3/6|c.152+9G>A||||||,A|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000331821|protein_coding|5/6|c.152+9G>A||||||,A|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000331821|protein_coding|4/6|c.152+9G>A||||||,A|sequence_feature|LOW|RANBP1|ENSG00000099901|beta_strand|ENST00000331821|protein_coding|2/6|c.152+9G>A||||||,A|sequence_feature|LOW|RANBP1|ENSG00000099901|beta_strand|ENST00000331821|protein_coding|3/6|c.152+9G>A||||||,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding||c.-317C>T|||||1936|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding||c.-390C>T|||||1863|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding||c.-363C>T|||||1766|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding||c.-340C>T|||||1913|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron||n.-1C>T|||||3346|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.-1C>T|||||3470|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.-1C>T|||||3719|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.-1C>T|||||4290|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.-1C>T|||||3766|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.-1C>T|||||3536|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.-1C>T|||||2608|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.-1C>T|||||3058|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.-1C>T|||||1975|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.-1C>T|||||1955|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.-224C>T|||||1919|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000448394|protein_coding||c.-1G>A|||||3449|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000486575|retained_intron||n.-1G>A|||||4981|,A|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding|2/4|c.2+9G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding|2/2|c.383+9G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding|2/5|c.-237+9G>A||||||,A|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay|2/5|n.*126+9G>A||||||,A|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding|2/5|c.152+9G>A||||||,A|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron|2/2|n.278+9G>A||||||,A|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding|2/5|c.152+9G>A||||||,A|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding|2/3|c.152+9G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding|2/2|c.2+9G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding|2/2|c.2+9G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding|2/5|c.2+9G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript|2/2|n.158G>A|||||| 22 20109760 . C G . . ANN=G|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000402752|protein_coding|2/6|c.153-27C>G||||||,G|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000402752|protein_coding|3/6|c.153-27C>G||||||,G|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000402752|protein_coding|5/6|c.153-27C>G||||||,G|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000402752|protein_coding|4/6|c.153-27C>G||||||,G|sequence_feature|LOW|RANBP1|ENSG00000099901|beta_strand|ENST00000402752|protein_coding|2/6|c.153-27C>G||||||,G|sequence_feature|LOW|RANBP1|ENSG00000099901|beta_strand|ENST00000402752|protein_coding|3/6|c.153-27C>G||||||,G|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000331821|protein_coding|2/6|c.153-27C>G||||||,G|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000331821|protein_coding|3/6|c.153-27C>G||||||,G|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000331821|protein_coding|5/6|c.153-27C>G||||||,G|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000331821|protein_coding|4/6|c.153-27C>G||||||,G|sequence_feature|LOW|RANBP1|ENSG00000099901|beta_strand|ENST00000331821|protein_coding|2/6|c.153-27C>G||||||,G|sequence_feature|LOW|RANBP1|ENSG00000099901|beta_strand|ENST00000331821|protein_coding|3/6|c.153-27C>G||||||,G|upstream_gene_variant|MODIFIER|SNORA77|ENSG00000264346|transcript|ENST00000578179|snoRNA||n.-1C>G|||||4165|,G|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding||c.-390G>C|||||4942|,G|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding||c.-363G>C|||||4845|,G|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding||c.-340G>C|||||4992|,G|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.-224G>C|||||4998|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000448394|protein_coding||c.-1C>G|||||370|WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000486575|retained_intron||n.-1C>G|||||1902|,G|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.*529C>G|||||2708|,G|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding|2/4|c.3-27C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding|2/2|c.384-27C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding|2/5|c.-236-27C>G||||||,G|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay|2/5|n.*127-27C>G||||||,G|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding|2/5|c.153-27C>G||||||,G|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron|2/2|n.279-27C>G||||||,G|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding|2/5|c.153-27C>G||||||,G|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding|2/3|c.153-27C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding|2/2|c.3-27C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding|2/2|c.3-27C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding|2/5|c.3-27C>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 20109764 . TAACCTCA T . . ANN=|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000402752|protein_coding|2/6|c.153-22_153-16delAACCTCA||||||,|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000402752|protein_coding|3/6|c.153-22_153-16delAACCTCA||||||,|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000402752|protein_coding|5/6|c.153-22_153-16delAACCTCA||||||,|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000402752|protein_coding|4/6|c.153-22_153-16delAACCTCA||||||,|sequence_feature|LOW|RANBP1|ENSG00000099901|beta_strand|ENST00000402752|protein_coding|2/6|c.153-22_153-16delAACCTCA||||||,|sequence_feature|LOW|RANBP1|ENSG00000099901|beta_strand|ENST00000402752|protein_coding|3/6|c.153-22_153-16delAACCTCA||||||,|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000331821|protein_coding|2/6|c.153-22_153-16delAACCTCA||||||,|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000331821|protein_coding|3/6|c.153-22_153-16delAACCTCA||||||,|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000331821|protein_coding|5/6|c.153-22_153-16delAACCTCA||||||,|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000331821|protein_coding|4/6|c.153-22_153-16delAACCTCA||||||,|sequence_feature|LOW|RANBP1|ENSG00000099901|beta_strand|ENST00000331821|protein_coding|2/6|c.153-22_153-16delAACCTCA||||||,|sequence_feature|LOW|RANBP1|ENSG00000099901|beta_strand|ENST00000331821|protein_coding|3/6|c.153-22_153-16delAACCTCA||||||,|upstream_gene_variant|MODIFIER|SNORA77|ENSG00000264346|transcript|ENST00000578179|snoRNA||n.-1_-1delAACCTCA|||||4160|,|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding||c.-390_-390delTGAGGTT|||||4947|,|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding||c.-363_-363delTGAGGTT|||||4850|,|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding||c.null_-340delTGAGGTT|||||4997|,|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000448394|protein_coding||c.-1_-1delAACCTCA|||||365|WARNING_TRANSCRIPT_NO_START_CODON,|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000486575|retained_intron||n.-1_-1delAACCTCA|||||1897|,|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.*529_*529delAACCTCA|||||2713|,|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding|2/4|c.3-22_3-16delAACCTCA||||||WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding|2/2|c.384-22_384-16delAACCTCA||||||WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding|2/5|c.-236-22_-236-16delAACCTCA||||||,|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay|2/5|n.*127-22_*127-16delAACCTCA||||||,|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding|2/5|c.153-22_153-16delAACCTCA||||||,|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron|2/2|n.279-22_279-16delAACCTCA||||||,|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding|2/5|c.153-22_153-16delAACCTCA||||||,|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding|2/3|c.153-22_153-16delAACCTCA||||||WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding|2/2|c.3-22_3-16delAACCTCA||||||WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding|2/2|c.3-22_3-16delAACCTCA||||||WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding|2/5|c.3-22_3-16delAACCTCA||||||WARNING_TRANSCRIPT_INCOMPLETE 22 20109977 . C T . . ANN=T|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000402752|protein_coding|2/6|c.310+33C>T||||||,T|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000402752|protein_coding|3/6|c.310+33C>T||||||,T|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000402752|protein_coding|5/6|c.310+33C>T||||||,T|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000402752|protein_coding|4/6|c.310+33C>T||||||,T|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000331821|protein_coding|2/6|c.310+33C>T||||||,T|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000331821|protein_coding|3/6|c.310+33C>T||||||,T|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000331821|protein_coding|5/6|c.310+33C>T||||||,T|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000331821|protein_coding|4/6|c.310+33C>T||||||,T|upstream_gene_variant|MODIFIER|SNORA77|ENSG00000264346|transcript|ENST00000578179|snoRNA||n.-1C>T|||||3948|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000448394|protein_coding||c.-1C>T|||||153|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000486575|retained_intron||n.-1C>T|||||1685|,T|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.*744C>T|||||77|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.*529C>T|||||2925|,T|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.*645C>T|||||33|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.*333C>T|||||33|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding|3/4|c.160+33C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding|3/5|c.-79+33C>T||||||,T|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay|3/5|n.*284+33C>T||||||,T|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding|3/5|c.310+33C>T||||||,T|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding|3/5|c.310+33C>T||||||,T|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding|3/3|c.310+33C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding|3/5|c.160+33C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron|3/3|n.469C>T|||||| 22 20112812 . C T . . ANN=T|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000402752|protein_coding|2/6|c.311-19C>T||||||,T|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000402752|protein_coding|3/6|c.311-19C>T||||||,T|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000402752|protein_coding|5/6|c.311-19C>T||||||,T|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000402752|protein_coding|4/6|c.311-19C>T||||||,T|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000331821|protein_coding|2/6|c.311-19C>T||||||,T|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000331821|protein_coding|3/6|c.311-19C>T||||||,T|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000331821|protein_coding|5/6|c.311-19C>T||||||,T|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000331821|protein_coding|4/6|c.311-19C>T||||||,T|upstream_gene_variant|MODIFIER|SNORA77|ENSG00000264346|transcript|ENST00000578179|snoRNA||n.-1C>T|||||1113|,T|upstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding||c.-17C>T|||||4167|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.*744C>T|||||2912|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.*699C>T|||||2605|,T|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.*645C>T|||||2868|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.*333C>T|||||2868|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding|3/4|c.161-19C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding|4/5|c.41-19C>T||||||,T|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay|4/5|n.*403-19C>T||||||,T|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding|3/5|c.311-19C>T||||||,T|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding|3/5|c.311-19C>T||||||,T|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding|3/3|c.311-19C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding|3/5|c.161-19C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000448394|protein_coding|1/3|c.92-19C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000486575|retained_intron|1/2|n.1151C>T|||||| 22 20112840 . T C . . ANN=C|missense_variant|MODERATE|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding|4/5|c.170T>C|p.Met57Thr|388/832|170/614|57/203||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding|5/6|c.50T>C|p.Met17Thr|881/1879|50/546|17/181||,C|missense_variant|MODERATE|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding|4/6|c.320T>C|p.Met107Thr|546/1132|320/603|107/200||,C|missense_variant|MODERATE|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding|4/6|c.320T>C|p.Met107Thr|422/837|320/606|107/201||,C|missense_variant|MODERATE|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding|4/4|c.320T>C|p.Met107Thr|413/584|320/491|107/162||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding|4/6|c.170T>C|p.Met57Thr|666/932|170/436|57/144||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|RANBP1|ENSG00000099901|transcript|ENST00000448394|protein_coding|2/4|c.101T>C|p.Met34Thr|101/688|101/387|34/128||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000402752|protein_coding|2/6|c.320T>C||||||,C|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000402752|protein_coding|3/6|c.320T>C||||||,C|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000402752|protein_coding|5/6|c.320T>C||||||,C|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000402752|protein_coding|4/6|c.320T>C||||||,C|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000331821|protein_coding|2/6|c.320T>C||||||,C|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000331821|protein_coding|3/6|c.320T>C||||||,C|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000331821|protein_coding|5/6|c.320T>C||||||,C|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000331821|protein_coding|4/6|c.320T>C||||||,C|3_prime_UTR_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay|5/6|n.*412T>C|||||6294|,C|upstream_gene_variant|MODIFIER|SNORA77|ENSG00000264346|transcript|ENST00000578179|snoRNA||n.-1T>C|||||1085|,C|upstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding||c.-17T>C|||||4139|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.*744T>C|||||2940|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.*699T>C|||||2633|,C|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.*645T>C|||||2896|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.*333T>C|||||2896|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay|5/6|n.*412T>C||||||,C|non_coding_exon_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000486575|retained_intron|1/2|n.1179T>C|||||| 22 20113005 . C T . . ANN=T|missense_variant|MODERATE|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding|4/4|c.485C>T|p.Ala162Val|578/584|485/491|162/162||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000402752|protein_coding|2/6|c.439+46C>T||||||,T|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000402752|protein_coding|3/6|c.439+46C>T||||||,T|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000402752|protein_coding|5/6|c.439+46C>T||||||,T|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000402752|protein_coding|4/6|c.439+46C>T||||||,T|sequence_feature|LOW|RANBP1|ENSG00000099901|helix|ENST00000402752|protein_coding|5/6|c.439+46C>T||||||,T|sequence_feature|LOW|RANBP1|ENSG00000099901|helix|ENST00000402752|protein_coding|4/6|c.439+46C>T||||||,T|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000331821|protein_coding|2/6|c.439+46C>T||||||,T|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000331821|protein_coding|3/6|c.439+46C>T||||||,T|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000331821|protein_coding|5/6|c.439+46C>T||||||,T|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000331821|protein_coding|4/6|c.439+46C>T||||||,T|sequence_feature|LOW|RANBP1|ENSG00000099901|helix|ENST00000331821|protein_coding|5/6|c.439+46C>T||||||,T|sequence_feature|LOW|RANBP1|ENSG00000099901|helix|ENST00000331821|protein_coding|4/6|c.439+46C>T||||||,T|upstream_gene_variant|MODIFIER|SNORA77|ENSG00000264346|transcript|ENST00000578179|snoRNA||n.-1C>T|||||920|,T|upstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding||c.-17C>T|||||3974|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.*744C>T|||||3105|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.*699C>T|||||2798|,T|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.*645C>T|||||3061|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.*333C>T|||||3061|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding|4/4|c.289+46C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding|5/5|c.169+46C>T||||||,T|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay|5/5|n.*531+46C>T||||||,T|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding|4/5|c.439+46C>T||||||,T|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding|4/5|c.439+46C>T||||||,T|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding|4/5|c.289+46C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000448394|protein_coding|2/3|c.220+46C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000486575|retained_intron|1/1|n.1298+46C>T|||||| 22 20113777 . T C . . ANN=C|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000402752|protein_coding|2/6|c.440-49T>C||||||,C|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000402752|protein_coding|3/6|c.440-49T>C||||||,C|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000402752|protein_coding|5/6|c.440-49T>C||||||,C|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000402752|protein_coding|4/6|c.440-49T>C||||||,C|sequence_feature|LOW|RANBP1|ENSG00000099901|helix|ENST00000402752|protein_coding|5/6|c.440-49T>C||||||,C|sequence_feature|LOW|RANBP1|ENSG00000099901|helix|ENST00000402752|protein_coding|4/6|c.440-49T>C||||||,C|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000331821|protein_coding|2/6|c.440-49T>C||||||,C|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000331821|protein_coding|3/6|c.440-49T>C||||||,C|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000331821|protein_coding|5/6|c.440-49T>C||||||,C|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000331821|protein_coding|4/6|c.440-49T>C||||||,C|sequence_feature|LOW|RANBP1|ENSG00000099901|helix|ENST00000331821|protein_coding|5/6|c.440-49T>C||||||,C|sequence_feature|LOW|RANBP1|ENSG00000099901|helix|ENST00000331821|protein_coding|4/6|c.440-49T>C||||||,C|upstream_gene_variant|MODIFIER|SNORA77|ENSG00000264346|transcript|ENST00000578179|snoRNA||n.-1T>C|||||148|,C|upstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding||c.-17T>C|||||3202|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.*744T>C|||||3877|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.*699T>C|||||3570|,C|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.*584T>C|||||766|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.*645T>C|||||3833|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.*333T>C|||||3833|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding|4/4|c.290-49T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding|5/5|c.170-49T>C||||||,C|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay|5/5|n.*532-49T>C||||||,C|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding|4/5|c.440-49T>C||||||,C|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding|4/5|c.440-49T>C||||||,C|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding|4/5|c.290-49T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000448394|protein_coding|2/3|c.221-49T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000486575|retained_intron|1/1|n.1299-49T>C|||||| 22 20113809 . C T . . ANN=T|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000402752|protein_coding|2/6|c.440-17C>T||||||,T|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000402752|protein_coding|3/6|c.440-17C>T||||||,T|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000402752|protein_coding|5/6|c.440-17C>T||||||,T|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000402752|protein_coding|4/6|c.440-17C>T||||||,T|sequence_feature|LOW|RANBP1|ENSG00000099901|helix|ENST00000402752|protein_coding|5/6|c.440-17C>T||||||,T|sequence_feature|LOW|RANBP1|ENSG00000099901|helix|ENST00000402752|protein_coding|4/6|c.440-17C>T||||||,T|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000331821|protein_coding|2/6|c.440-17C>T||||||,T|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000331821|protein_coding|3/6|c.440-17C>T||||||,T|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000331821|protein_coding|5/6|c.440-17C>T||||||,T|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000331821|protein_coding|4/6|c.440-17C>T||||||,T|sequence_feature|LOW|RANBP1|ENSG00000099901|helix|ENST00000331821|protein_coding|5/6|c.440-17C>T||||||,T|sequence_feature|LOW|RANBP1|ENSG00000099901|helix|ENST00000331821|protein_coding|4/6|c.440-17C>T||||||,T|upstream_gene_variant|MODIFIER|SNORA77|ENSG00000264346|transcript|ENST00000578179|snoRNA||n.-1C>T|||||116|,T|upstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding||c.-17C>T|||||3170|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.*744C>T|||||3909|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.*699C>T|||||3602|,T|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.*584C>T|||||798|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.*645C>T|||||3865|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.*333C>T|||||3865|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding|4/4|c.290-17C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding|5/5|c.170-17C>T||||||,T|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay|5/5|n.*532-17C>T||||||,T|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding|4/5|c.440-17C>T||||||,T|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding|4/5|c.440-17C>T||||||,T|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding|4/5|c.290-17C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000448394|protein_coding|2/3|c.221-17C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000486575|retained_intron|1/1|n.1299-17C>T|||||| 22 20113896 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding|5/5|c.505+5C>T||||||,T|splice_region_variant&intron_variant|LOW|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding|5/5|c.505+5C>T||||||,T|splice_region_variant&intron_variant|LOW|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding|5/5|c.355+5C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|splice_region_variant&intron_variant|LOW|RANBP1|ENSG00000099901|transcript|ENST00000448394|protein_coding|3/3|c.286+5C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding|5/5|c.360C>T|p.Asp120Asp|578/832|360/614|120/203||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding|6/6|c.240C>T|p.Asp80Asp|1071/1879|240/546|80/181||,T|3_prime_UTR_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay|6/6|n.*602C>T|||||7350|,T|upstream_gene_variant|MODIFIER|SNORA77|ENSG00000264346|transcript|ENST00000578179|snoRNA||n.-1C>T|||||29|,T|upstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding||c.-17C>T|||||3083|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.*744C>T|||||3996|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.*699C>T|||||3689|,T|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.*584C>T|||||885|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.*645C>T|||||3952|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.*333C>T|||||3952|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay|6/6|n.*602C>T||||||,T|non_coding_exon_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000486575|retained_intron|2/2|n.1369C>T|||||| 22 20114479 . A G . . ANN=G|splice_region_variant&synonymous_variant|LOW|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding|6/6|c.507A>G|p.Gly169Gly|733/1132|507/603|169/200||,G|splice_region_variant&synonymous_variant|LOW|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding|6/6|c.357A>G|p.Gly119Gly|853/932|357/436|119/144||WARNING_TRANSCRIPT_INCOMPLETE,G|synonymous_variant|LOW|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding|6/6|c.510A>G|p.Gly170Gly|612/837|510/606|170/201||,G|synonymous_variant|LOW|RANBP1|ENSG00000099901|transcript|ENST00000448394|protein_coding|4/4|c.291A>G|p.Gly97Gly|291/688|291/387|97/128||WARNING_TRANSCRIPT_NO_START_CODON,G|3_prime_UTR_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding|6/6|c.*277A>G|||||277|,G|3_prime_UTR_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay|6/6|n.*1185A>G|||||7933|,G|upstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding||c.-1A>G|||||4992|,G|upstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding||c.-17A>G|||||2500|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding||c.-142A>G|||||4851|,G|upstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding||c.-1A>G|||||4992|,G|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.*832A>G|||||329|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|SNORA77|ENSG00000264346|transcript|ENST00000578179|snoRNA||n.*125A>G|||||430|,G|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.*744A>G|||||4579|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.*699A>G|||||4272|,G|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.*584A>G|||||1468|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.*645A>G|||||4535|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.*333A>G|||||4535|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay|6/6|n.*1185A>G||||||,G|non_coding_exon_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000486575|retained_intron|2/2|n.1952A>G|||||| 22 20114500 . C T . . ANN=T|synonymous_variant|LOW|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding|6/6|c.528C>T|p.Ala176Ala|754/1132|528/603|176/200||,T|synonymous_variant|LOW|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding|6/6|c.531C>T|p.Ala177Ala|633/837|531/606|177/201||,T|synonymous_variant|LOW|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding|6/6|c.378C>T|p.Ala126Ala|874/932|378/436|126/144||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|RANBP1|ENSG00000099901|transcript|ENST00000448394|protein_coding|4/4|c.312C>T|p.Ala104Ala|312/688|312/387|104/128||WARNING_TRANSCRIPT_NO_START_CODON,T|3_prime_UTR_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding|6/6|c.*298C>T|||||298|,T|3_prime_UTR_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay|6/6|n.*1206C>T|||||7954|,T|upstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding||c.-1C>T|||||4971|,T|upstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding||c.-17C>T|||||2479|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding||c.-142C>T|||||4830|,T|upstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding||c.-1C>T|||||4971|,T|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.*832C>T|||||350|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SNORA77|ENSG00000264346|transcript|ENST00000578179|snoRNA||n.*125C>T|||||451|,T|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.*744C>T|||||4600|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.*699C>T|||||4293|,T|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.*584C>T|||||1489|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.*645C>T|||||4556|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.*333C>T|||||4556|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay|6/6|n.*1206C>T||||||,T|non_coding_exon_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000486575|retained_intron|2/2|n.1973C>T|||||| 22 20114512 . G A . . ANN=A|synonymous_variant|LOW|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding|6/6|c.540G>A|p.Ala180Ala|766/1132|540/603|180/200||,A|synonymous_variant|LOW|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding|6/6|c.543G>A|p.Ala181Ala|645/837|543/606|181/201||,A|synonymous_variant|LOW|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding|6/6|c.390G>A|p.Ala130Ala|886/932|390/436|130/144||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|RANBP1|ENSG00000099901|transcript|ENST00000448394|protein_coding|4/4|c.324G>A|p.Ala108Ala|324/688|324/387|108/128||WARNING_TRANSCRIPT_NO_START_CODON,A|3_prime_UTR_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding|6/6|c.*310G>A|||||310|,A|3_prime_UTR_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay|6/6|n.*1218G>A|||||7966|,A|upstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding||c.-1G>A|||||4959|,A|upstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding||c.-17G>A|||||2467|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding||c.-142G>A|||||4818|,A|upstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding||c.-1G>A|||||4959|,A|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.*832G>A|||||362|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SNORA77|ENSG00000264346|transcript|ENST00000578179|snoRNA||n.*125G>A|||||463|,A|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.*744G>A|||||4612|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.*699G>A|||||4305|,A|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.*584G>A|||||1501|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.*645G>A|||||4568|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.*333G>A|||||4568|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay|6/6|n.*1218G>A||||||,A|non_coding_exon_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000486575|retained_intron|2/2|n.1985G>A|||||| 22 20114518 . G A . . ANN=A|sequence_feature|MODERATE|RANBP1|ENSG00000099901|amino_acid_modification:N6-acetyllysine|ENST00000402752|protein_coding|6/6|c.546G>A||||||,A|sequence_feature|MODERATE|RANBP1|ENSG00000099901|cross-link:Glycyl_lysine_isopeptide__Lys-Gly___interchain_with_G-Cter_in_ubiquitin_|ENST00000402752|protein_coding|6/6|c.546G>A||||||,A|sequence_feature|MODERATE|RANBP1|ENSG00000099901|amino_acid_modification:N6-acetyllysine|ENST00000331821|protein_coding|6/6|c.549G>A||||||,A|sequence_feature|MODERATE|RANBP1|ENSG00000099901|cross-link:Glycyl_lysine_isopeptide__Lys-Gly___interchain_with_G-Cter_in_ubiquitin_|ENST00000331821|protein_coding|6/6|c.549G>A||||||,A|synonymous_variant|LOW|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding|6/6|c.546G>A|p.Lys182Lys|772/1132|546/603|182/200||,A|synonymous_variant|LOW|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding|6/6|c.549G>A|p.Lys183Lys|651/837|549/606|183/201||,A|synonymous_variant|LOW|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding|6/6|c.396G>A|p.Lys132Lys|892/932|396/436|132/144||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|RANBP1|ENSG00000099901|transcript|ENST00000448394|protein_coding|4/4|c.330G>A|p.Lys110Lys|330/688|330/387|110/128||WARNING_TRANSCRIPT_NO_START_CODON,A|3_prime_UTR_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding|6/6|c.*316G>A|||||316|,A|3_prime_UTR_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay|6/6|n.*1224G>A|||||7972|,A|upstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding||c.-1G>A|||||4953|,A|upstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding||c.-17G>A|||||2461|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding||c.-142G>A|||||4812|,A|upstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding||c.-1G>A|||||4953|,A|upstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript||n.-1G>A|||||5000|,A|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.*832G>A|||||368|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SNORA77|ENSG00000264346|transcript|ENST00000578179|snoRNA||n.*125G>A|||||469|,A|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.*744G>A|||||4618|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.*699G>A|||||4311|,A|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.*584G>A|||||1507|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.*645G>A|||||4574|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.*333G>A|||||4574|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay|6/6|n.*1224G>A||||||,A|non_coding_exon_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000486575|retained_intron|2/2|n.1991G>A|||||| 22 20126702 . C T . . ANN=T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Lumenal|ENST00000405930|protein_coding|2/11|c.105-15C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Lumenal|ENST00000405930|protein_coding|1/11|c.105-15C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Lumenal|ENST00000334554|protein_coding|1/11|c.105-15C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Lumenal|ENST00000334554|protein_coding|2/11|c.105-15C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Lumenal|ENST00000320602|protein_coding|2/9|c.105-15C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Lumenal|ENST00000320602|protein_coding|1/9|c.105-15C>T||||||,T|upstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.-1C>T|||||758|,T|upstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron||n.-1C>T|||||1226|,T|intron_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|1/10|c.105-15C>T||||||,T|intron_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding|1/3|c.72-15C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|1/10|c.105-15C>T||||||,T|intron_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|1/8|c.105-15C>T||||||,T|intron_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript|1/4|n.58-1438C>T|||||| 22 20126741 . G T . . ANN=T|synonymous_variant|LOW|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|2/11|c.129G>T|p.Val43Val|129/3112|129/2337|43/778||,T|synonymous_variant|LOW|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding|2/4|c.96G>T|p.Val32Val|112/557|96/541|32/179||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|2/11|c.129G>T|p.Val43Val|270/5046|129/2298|43/765||,T|synonymous_variant|LOW|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|2/9|c.129G>T|p.Val43Val|129/3072|129/2022|43/673||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Lumenal|ENST00000405930|protein_coding|2/11|c.129G>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Lumenal|ENST00000405930|protein_coding|1/11|c.129G>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Lumenal|ENST00000334554|protein_coding|1/11|c.129G>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Lumenal|ENST00000334554|protein_coding|2/11|c.129G>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Lumenal|ENST00000320602|protein_coding|2/9|c.129G>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Lumenal|ENST00000320602|protein_coding|1/9|c.129G>T||||||,T|upstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.-1G>T|||||719|,T|upstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron||n.-1G>T|||||1187|,T|intron_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript|1/4|n.58-1399G>T|||||| 22 20126829 . T C . . ANN=C|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|2/11|c.217T>C|p.Phe73Leu|217/3112|217/2337|73/778||,C|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding|2/4|c.184T>C|p.Phe62Leu|200/557|184/541|62/179||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|2/11|c.217T>C|p.Phe73Leu|358/5046|217/2298|73/765||,C|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|2/9|c.217T>C|p.Phe73Leu|217/3072|217/2022|73/673||,C|sequence_feature|LOW|ZDHHC8|ENSG00000099904|transmembrane_region:Transmembrane_region|ENST00000405930|protein_coding|2/11|c.217T>C||||||,C|sequence_feature|LOW|ZDHHC8|ENSG00000099904|transmembrane_region:Transmembrane_region|ENST00000334554|protein_coding|2/11|c.217T>C||||||,C|sequence_feature|LOW|ZDHHC8|ENSG00000099904|transmembrane_region:Transmembrane_region|ENST00000320602|protein_coding|2/9|c.217T>C||||||,C|upstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.-1T>C|||||631|,C|upstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron||n.-1T>C|||||1099|,C|intron_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript|1/4|n.58-1311T>C|||||| 22 20127026 . C T . . ANN=T|synonymous_variant|LOW|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|3/11|c.252C>T|p.Asp84Asp|252/3112|252/2337|84/778||,T|synonymous_variant|LOW|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding|3/4|c.219C>T|p.Asp73Asp|235/557|219/541|73/179||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|3/11|c.252C>T|p.Asp84Asp|393/5046|252/2298|84/765||,T|synonymous_variant|LOW|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|3/9|c.252C>T|p.Asp84Asp|252/3072|252/2022|84/673||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000405930|protein_coding|2/11|c.252C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000405930|protein_coding|4/11|c.252C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000405930|protein_coding|3/11|c.252C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|2/11|c.252C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|4/11|c.252C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|3/11|c.252C>T||||||,T|upstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.-1C>T|||||434|,T|upstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron||n.-1C>T|||||902|,T|intron_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript|1/4|n.58-1114C>T|||||| 22 20127032 . C T . . ANN=T|synonymous_variant|LOW|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|3/11|c.258C>T|p.Phe86Phe|258/3112|258/2337|86/778||,T|synonymous_variant|LOW|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding|3/4|c.225C>T|p.Phe75Phe|241/557|225/541|75/179||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|3/11|c.258C>T|p.Phe86Phe|399/5046|258/2298|86/765||,T|synonymous_variant|LOW|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|3/9|c.258C>T|p.Phe86Phe|258/3072|258/2022|86/673||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000405930|protein_coding|2/11|c.258C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000405930|protein_coding|4/11|c.258C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000405930|protein_coding|3/11|c.258C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|2/11|c.258C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|4/11|c.258C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|3/11|c.258C>T||||||,T|upstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.-1C>T|||||428|,T|upstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron||n.-1C>T|||||896|,T|intron_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript|1/4|n.58-1108C>T|||||| 22 20127226 . G T . . ANN=T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000405930|protein_coding|2/11|c.385-17G>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000405930|protein_coding|4/11|c.385-17G>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000405930|protein_coding|3/11|c.385-17G>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|zinc_finger_region:DHHC-type|ENST00000405930|protein_coding|4/11|c.385-17G>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|zinc_finger_region:DHHC-type|ENST00000405930|protein_coding|3/11|c.385-17G>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|2/11|c.385-17G>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|4/11|c.385-17G>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|3/11|c.385-17G>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|zinc_finger_region:DHHC-type|ENST00000334554|protein_coding|4/11|c.385-17G>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|zinc_finger_region:DHHC-type|ENST00000334554|protein_coding|3/11|c.385-17G>T||||||,T|upstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.-1G>T|||||234|,T|upstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron||n.-1G>T|||||702|,T|intron_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|3/10|c.385-17G>T||||||,T|intron_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding|3/3|c.352-17G>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|3/10|c.385-17G>T||||||,T|intron_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|3/8|c.384+68G>T||||||,T|intron_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript|1/4|n.58-914G>T|||||| 22 20127267 . G A . . ANN=A|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|4/11|c.409G>A|p.Val137Ile|409/3112|409/2337|137/778||,A|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding|4/4|c.376G>A|p.Val126Ile|392/557|376/541|126/179||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|4/11|c.409G>A|p.Val137Ile|550/5046|409/2298|137/765||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000405930|protein_coding|2/11|c.409G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000405930|protein_coding|4/11|c.409G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000405930|protein_coding|3/11|c.409G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|zinc_finger_region:DHHC-type|ENST00000405930|protein_coding|4/11|c.409G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|zinc_finger_region:DHHC-type|ENST00000405930|protein_coding|3/11|c.409G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|2/11|c.409G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|4/11|c.409G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|3/11|c.409G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|zinc_finger_region:DHHC-type|ENST00000334554|protein_coding|4/11|c.409G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|zinc_finger_region:DHHC-type|ENST00000334554|protein_coding|3/11|c.409G>A||||||,A|upstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.-1G>A|||||193|,A|upstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron||n.-1G>A|||||661|,A|intron_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|3/8|c.384+109G>A||||||,A|intron_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript|1/4|n.58-873G>A|||||| 22 20127374 . G A . . ANN=A|synonymous_variant|LOW|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|4/11|c.516G>A|p.Leu172Leu|516/3112|516/2337|172/778||,A|synonymous_variant|LOW|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding|4/4|c.483G>A|p.Leu161Leu|499/557|483/541|161/179||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|4/11|c.516G>A|p.Leu172Leu|657/5046|516/2298|172/765||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Lumenal|ENST00000405930|protein_coding|5/11|c.516G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Lumenal|ENST00000405930|protein_coding|4/11|c.516G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Lumenal|ENST00000334554|protein_coding|5/11|c.516G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Lumenal|ENST00000334554|protein_coding|4/11|c.516G>A||||||,A|upstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.-1G>A|||||86|,A|upstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron||n.-1G>A|||||554|,A|intron_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|3/8|c.384+216G>A||||||,A|intron_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript|1/4|n.58-766G>A|||||| 22 20127408 . A G . . ANN=G|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|4/11|c.550A>G|p.Thr184Ala|550/3112|550/2337|184/778||,G|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding|4/4|c.517A>G|p.Thr173Ala|533/557|517/541|173/179||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|4/11|c.550A>G|p.Thr184Ala|691/5046|550/2298|184/765||,G|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Lumenal|ENST00000405930|protein_coding|5/11|c.550A>G||||||,G|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Lumenal|ENST00000405930|protein_coding|4/11|c.550A>G||||||,G|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Lumenal|ENST00000334554|protein_coding|5/11|c.550A>G||||||,G|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Lumenal|ENST00000334554|protein_coding|4/11|c.550A>G||||||,G|upstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.-1A>G|||||52|,G|upstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron||n.-1A>G|||||520|,G|intron_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|3/8|c.384+250A>G||||||,G|intron_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript|1/4|n.58-732A>G|||||| 22 20128402 . T C . . ANN=C|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|7/11|c.761T>C|p.Val254Ala|761/3112|761/2337|254/778||,C|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|7/11|c.761T>C|p.Val254Ala|902/5046|761/2298|254/765||,C|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|5/9|c.485T>C|p.Val162Ala|485/3072|485/2022|162/673||,C|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|5/11|c.761T>C||||||,C|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|10/11|c.761T>C||||||,C|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|6/11|c.761T>C||||||,C|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|9/11|c.761T>C||||||,C|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|11/11|c.761T>C||||||,C|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|8/11|c.761T>C||||||,C|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|7/11|c.761T>C||||||,C|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding||c.*557T>C|||||970|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript|3/5|n.158T>C||||||,C|non_coding_exon_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron|3/4|n.382T>C||||||,C|non_coding_exon_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron|2/5|n.313T>C|||||| 22 20128426 . C T . . ANN=T|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|7/11|c.785C>T|p.Ala262Val|785/3112|785/2337|262/778||,T|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|7/11|c.785C>T|p.Ala262Val|926/5046|785/2298|262/765||,T|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|5/9|c.509C>T|p.Ala170Val|509/3072|509/2022|170/673||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|5/11|c.785C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|10/11|c.785C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|6/11|c.785C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|9/11|c.785C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|11/11|c.785C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|8/11|c.785C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|7/11|c.785C>T||||||,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding||c.*557C>T|||||994|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript|3/5|n.182C>T||||||,T|non_coding_exon_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron|3/4|n.406C>T||||||,T|non_coding_exon_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron|2/5|n.337C>T|||||| 22 20128733 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|7/10|c.895-7C>T||||||,T|splice_region_variant&intron_variant|LOW|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|7/10|c.895-7C>T||||||,T|splice_region_variant&intron_variant|LOW|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|5/8|c.619-7C>T||||||,T|splice_region_variant&intron_variant|LOW|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript|3/4|n.292-7C>T||||||,T|splice_region_variant&intron_variant|LOW|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron|3/3|n.516-7C>T||||||,T|splice_region_variant&intron_variant|LOW|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron|2/4|n.447-7C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|5/11|c.895-7C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|10/11|c.895-7C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|6/11|c.895-7C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|9/11|c.895-7C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|11/11|c.895-7C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|8/11|c.895-7C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|7/11|c.895-7C>T||||||,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding||c.*557C>T|||||1301|WARNING_TRANSCRIPT_INCOMPLETE 22 20128851 . G A . . ANN=A|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|8/11|c.1006G>A|p.Gly336Ser|1006/3112|1006/2337|336/778||,A|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|8/11|c.1006G>A|p.Gly336Ser|1147/5046|1006/2298|336/765||,A|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|6/9|c.730G>A|p.Gly244Ser|730/3072|730/2022|244/673||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|5/11|c.1006G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|10/11|c.1006G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|6/11|c.1006G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|9/11|c.1006G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|11/11|c.1006G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|8/11|c.1006G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|7/11|c.1006G>A||||||,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding||c.*557G>A|||||1419|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.*625G>A|||||2|,A|non_coding_exon_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript|4/5|n.403G>A||||||,A|non_coding_exon_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron|3/5|n.558G>A|||||| 22 20128880 . G A . . ANN=A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|5/11|c.1015+20G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|10/11|c.1015+20G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|6/11|c.1015+20G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|9/11|c.1015+20G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|11/11|c.1015+20G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|8/11|c.1015+20G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|7/11|c.1015+20G>A||||||,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding||c.*557G>A|||||1448|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.*625G>A|||||31|,A|intron_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|8/10|c.1015+20G>A||||||,A|intron_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|8/10|c.1015+20G>A||||||,A|intron_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|6/8|c.739+20G>A||||||,A|intron_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript|4/4|n.412+20G>A||||||,A|intron_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron|3/4|n.567+20G>A|||||| 22 20128881 . A C . . ANN=C|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|5/11|c.1015+21A>C||||||,C|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|10/11|c.1015+21A>C||||||,C|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|6/11|c.1015+21A>C||||||,C|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|9/11|c.1015+21A>C||||||,C|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|11/11|c.1015+21A>C||||||,C|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|8/11|c.1015+21A>C||||||,C|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|7/11|c.1015+21A>C||||||,C|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding||c.*557A>C|||||1449|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.*625A>C|||||32|,C|intron_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|8/10|c.1015+21A>C||||||,C|intron_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|8/10|c.1015+21A>C||||||,C|intron_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|6/8|c.739+21A>C||||||,C|intron_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript|4/4|n.412+21A>C||||||,C|intron_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron|3/4|n.567+21A>C|||||| 22 20128956 . C T . . ANN=T|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|9/11|c.1028C>T|p.Ser343Leu|1028/3112|1028/2337|343/778||,T|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|9/11|c.1028C>T|p.Ser343Leu|1169/5046|1028/2298|343/765||,T|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|7/9|c.752C>T|p.Ser251Leu|752/3072|752/2022|251/673||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|5/11|c.1028C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|10/11|c.1028C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|6/11|c.1028C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|9/11|c.1028C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|11/11|c.1028C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|8/11|c.1028C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|7/11|c.1028C>T||||||,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding||c.*557C>T|||||1524|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.*625C>T|||||107|,T|non_coding_exon_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript|5/5|n.425C>T||||||,T|non_coding_exon_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron|4/5|n.580C>T|||||| 22 20128978 . G A . . ANN=A|synonymous_variant|LOW|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|9/11|c.1050G>A|p.Pro350Pro|1050/3112|1050/2337|350/778||,A|synonymous_variant|LOW|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|9/11|c.1050G>A|p.Pro350Pro|1191/5046|1050/2298|350/765||,A|synonymous_variant|LOW|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|7/9|c.774G>A|p.Pro258Pro|774/3072|774/2022|258/673||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|5/11|c.1050G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|10/11|c.1050G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|6/11|c.1050G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|9/11|c.1050G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|11/11|c.1050G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|8/11|c.1050G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|7/11|c.1050G>A||||||,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding||c.*557G>A|||||1546|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.*625G>A|||||129|,A|non_coding_exon_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript|5/5|n.447G>A||||||,A|non_coding_exon_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron|4/5|n.602G>A|||||| 22 20128986 . C T . . ANN=T|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|9/11|c.1058C>T|p.Ala353Val|1058/3112|1058/2337|353/778||,T|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|9/11|c.1058C>T|p.Ala353Val|1199/5046|1058/2298|353/765||,T|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|7/9|c.782C>T|p.Ala261Val|782/3072|782/2022|261/673||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|5/11|c.1058C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|10/11|c.1058C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|6/11|c.1058C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|9/11|c.1058C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|11/11|c.1058C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|8/11|c.1058C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|7/11|c.1058C>T||||||,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding||c.*557C>T|||||1554|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.*625C>T|||||137|,T|non_coding_exon_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript|5/5|n.455C>T||||||,T|non_coding_exon_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron|4/5|n.610C>T|||||| 22 20129072 . C T . . ANN=T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|5/11|c.1125+19C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|10/11|c.1125+19C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|6/11|c.1125+19C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|9/11|c.1125+19C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|11/11|c.1125+19C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|8/11|c.1125+19C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|7/11|c.1125+19C>T||||||,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding||c.*557C>T|||||1640|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript||n.*524C>T|||||17|,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.*625C>T|||||223|,T|intron_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|9/10|c.1125+19C>T||||||,T|intron_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|9/10|c.1125+19C>T||||||,T|intron_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|7/8|c.849+19C>T||||||,T|intron_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron|4/4|n.677+19C>T|||||| 22 20130321 . C T . . ANN=T|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|10/11|c.1168C>T|p.Arg390Cys|1168/3112|1168/2337|390/778||,T|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|10/11|c.1168C>T|p.Arg390Cys|1309/5046|1168/2298|390/765||,T|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|8/9|c.892C>T|p.Arg298Cys|892/3072|892/2022|298/673||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|5/11|c.1168C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|10/11|c.1168C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|6/11|c.1168C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|9/11|c.1168C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|11/11|c.1168C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|8/11|c.1168C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|7/11|c.1168C>T||||||,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding||c.*557C>T|||||2889|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript||n.*524C>T|||||1266|,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.*625C>T|||||1472|,T|non_coding_exon_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron|5/5|n.720C>T|||||| 22 20130341 . C T . . ANN=T|synonymous_variant|LOW|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|10/11|c.1188C>T|p.Ser396Ser|1188/3112|1188/2337|396/778||,T|synonymous_variant|LOW|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|10/11|c.1188C>T|p.Ser396Ser|1329/5046|1188/2298|396/765||,T|synonymous_variant|LOW|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|8/9|c.912C>T|p.Ser304Ser|912/3072|912/2022|304/673||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|5/11|c.1188C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|10/11|c.1188C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|6/11|c.1188C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|9/11|c.1188C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|11/11|c.1188C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|8/11|c.1188C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|7/11|c.1188C>T||||||,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding||c.*557C>T|||||2909|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript||n.*524C>T|||||1286|,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.*625C>T|||||1492|,T|non_coding_exon_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron|5/5|n.740C>T|||||| 22 20130416 . C T . . ANN=T|synonymous_variant|LOW|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|10/11|c.1263C>T|p.Ser421Ser|1263/3112|1263/2337|421/778||,T|synonymous_variant|LOW|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|10/11|c.1263C>T|p.Ser421Ser|1404/5046|1263/2298|421/765||,T|synonymous_variant|LOW|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|8/9|c.987C>T|p.Ser329Ser|987/3072|987/2022|329/673||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|5/11|c.1263C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|10/11|c.1263C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|6/11|c.1263C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|9/11|c.1263C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|11/11|c.1263C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|8/11|c.1263C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|7/11|c.1263C>T||||||,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding||c.*557C>T|||||2984|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript||n.*524C>T|||||1361|,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.*625C>T|||||1567|,T|non_coding_exon_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron|5/5|n.815C>T|||||| 22 20130455 . C T . . ANN=T|synonymous_variant|LOW|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|10/11|c.1302C>T|p.Ser434Ser|1302/3112|1302/2337|434/778||,T|synonymous_variant|LOW|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|10/11|c.1302C>T|p.Ser434Ser|1443/5046|1302/2298|434/765||,T|synonymous_variant|LOW|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|8/9|c.1026C>T|p.Ser342Ser|1026/3072|1026/2022|342/673||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|5/11|c.1302C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|10/11|c.1302C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|6/11|c.1302C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|9/11|c.1302C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|11/11|c.1302C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|8/11|c.1302C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|7/11|c.1302C>T||||||,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding||c.*557C>T|||||3023|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript||n.*524C>T|||||1400|,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.*625C>T|||||1606|,T|non_coding_exon_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron|5/5|n.854C>T|||||| 22 20130558 . G A . . ANN=A|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|10/11|c.1405G>A|p.Ala469Thr|1405/3112|1405/2337|469/778||,A|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|10/11|c.1405G>A|p.Ala469Thr|1546/5046|1405/2298|469/765||,A|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|8/9|c.1129G>A|p.Ala377Thr|1129/3072|1129/2022|377/673||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|5/11|c.1405G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|10/11|c.1405G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|6/11|c.1405G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|9/11|c.1405G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|11/11|c.1405G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|8/11|c.1405G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|7/11|c.1405G>A||||||,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding||c.*557G>A|||||3126|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript||n.*524G>A|||||1503|,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.*625G>A|||||1709|,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron||n.*909G>A|||||48| 22 20130626 . C T . . ANN=T|synonymous_variant|LOW|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|10/11|c.1473C>T|p.His491His|1473/3112|1473/2337|491/778||,T|synonymous_variant|LOW|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|10/11|c.1473C>T|p.His491His|1614/5046|1473/2298|491/765||,T|synonymous_variant|LOW|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|8/9|c.1197C>T|p.His399His|1197/3072|1197/2022|399/673||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|5/11|c.1473C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|10/11|c.1473C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|6/11|c.1473C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|9/11|c.1473C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|11/11|c.1473C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|8/11|c.1473C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|7/11|c.1473C>T||||||,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding||c.*557C>T|||||3194|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript||n.*524C>T|||||1571|,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.*625C>T|||||1777|,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron||n.*909C>T|||||116| 22 20130654 . G A . . ANN=A|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|10/11|c.1501G>A|p.Val501Met|1501/3112|1501/2337|501/778||,A|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|10/11|c.1501G>A|p.Val501Met|1642/5046|1501/2298|501/765||,A|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|8/9|c.1225G>A|p.Val409Met|1225/3072|1225/2022|409/673||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|5/11|c.1501G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|10/11|c.1501G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|6/11|c.1501G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|9/11|c.1501G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|11/11|c.1501G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|8/11|c.1501G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|7/11|c.1501G>A||||||,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding||c.*557G>A|||||3222|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript||n.*524G>A|||||1599|,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.*625G>A|||||1805|,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron||n.*909G>A|||||144| 22 20130697 . G A . . ANN=A|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|10/11|c.1544G>A|p.Gly515Asp|1544/3112|1544/2337|515/778||,A|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|10/11|c.1544G>A|p.Gly515Asp|1685/5046|1544/2298|515/765||,A|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|8/9|c.1268G>A|p.Gly423Asp|1268/3072|1268/2022|423/673||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|5/11|c.1544G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|10/11|c.1544G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|6/11|c.1544G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|9/11|c.1544G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|11/11|c.1544G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|8/11|c.1544G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|7/11|c.1544G>A||||||,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding||c.*557G>A|||||3265|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript||n.*524G>A|||||1642|,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.*625G>A|||||1848|,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron||n.*909G>A|||||187| 22 20130885 . G A . . ANN=A|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|10/11|c.1732G>A|p.Val578Ile|1732/3112|1732/2337|578/778||,A|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|10/11|c.1732G>A|p.Val578Ile|1873/5046|1732/2298|578/765||,A|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|8/9|c.1456G>A|p.Val486Ile|1456/3072|1456/2022|486/673||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|5/11|c.1732G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|10/11|c.1732G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|6/11|c.1732G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|9/11|c.1732G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|11/11|c.1732G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|8/11|c.1732G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|7/11|c.1732G>A||||||,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding||c.*557G>A|||||3453|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript||n.*524G>A|||||1830|,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.*625G>A|||||2036|,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron||n.*909G>A|||||375| 22 20130908 . C T . . ANN=T|synonymous_variant|LOW|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|10/11|c.1755C>T|p.Tyr585Tyr|1755/3112|1755/2337|585/778||,T|synonymous_variant|LOW|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|10/11|c.1755C>T|p.Tyr585Tyr|1896/5046|1755/2298|585/765||,T|synonymous_variant|LOW|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|8/9|c.1479C>T|p.Tyr493Tyr|1479/3072|1479/2022|493/673||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|5/11|c.1755C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|10/11|c.1755C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|6/11|c.1755C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|9/11|c.1755C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|11/11|c.1755C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|8/11|c.1755C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|7/11|c.1755C>T||||||,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding||c.*557C>T|||||3476|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript||n.*524C>T|||||1853|,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.*625C>T|||||2059|,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron||n.*909C>T|||||398| 22 20130920 . G A . . ANN=A|synonymous_variant|LOW|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|10/11|c.1767G>A|p.Gln589Gln|1767/3112|1767/2337|589/778||,A|synonymous_variant|LOW|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|10/11|c.1767G>A|p.Gln589Gln|1908/5046|1767/2298|589/765||,A|synonymous_variant|LOW|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|8/9|c.1491G>A|p.Gln497Gln|1491/3072|1491/2022|497/673||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|5/11|c.1767G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|10/11|c.1767G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|6/11|c.1767G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|9/11|c.1767G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|11/11|c.1767G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|8/11|c.1767G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|7/11|c.1767G>A||||||,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding||c.*557G>A|||||3488|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript||n.*524G>A|||||1865|,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.*625G>A|||||2071|,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron||n.*909G>A|||||410| 22 20130955 . C T . . ANN=T|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|10/11|c.1802C>T|p.Ala601Val|1802/3112|1802/2337|601/778||,T|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|10/11|c.1802C>T|p.Ala601Val|1943/5046|1802/2298|601/765||,T|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|8/9|c.1526C>T|p.Ala509Val|1526/3072|1526/2022|509/673||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|5/11|c.1802C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|10/11|c.1802C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|6/11|c.1802C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|9/11|c.1802C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|11/11|c.1802C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|8/11|c.1802C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|7/11|c.1802C>T||||||,T|downstream_gene_variant|MODIFIER|AC006547.14|ENSG00000234409|transcript|ENST00000439765|protein_coding||c.*1099G>A|||||4995|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding||c.*557C>T|||||3523|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript||n.*524C>T|||||1900|,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.*625C>T|||||2106|,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron||n.*909C>T|||||445| 22 20131018 . C T . . ANN=T|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|10/11|c.1865C>T|p.Pro622Leu|1865/3112|1865/2337|622/778||,T|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|10/11|c.1865C>T|p.Pro622Leu|2006/5046|1865/2298|622/765||,T|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|8/9|c.1589C>T|p.Pro530Leu|1589/3072|1589/2022|530/673||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|5/11|c.1865C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|10/11|c.1865C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|6/11|c.1865C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|9/11|c.1865C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|11/11|c.1865C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|8/11|c.1865C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|7/11|c.1865C>T||||||,T|downstream_gene_variant|MODIFIER|AC006547.14|ENSG00000234409|transcript|ENST00000439765|protein_coding||c.*1099G>A|||||4932|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding||c.*557C>T|||||3586|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript||n.*524C>T|||||1963|,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.*625C>T|||||2169|,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron||n.*909C>T|||||508| 22 20131055 . C T . . ANN=T|synonymous_variant|LOW|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|10/11|c.1902C>T|p.Ser634Ser|1902/3112|1902/2337|634/778||,T|synonymous_variant|LOW|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|10/11|c.1902C>T|p.Ser634Ser|2043/5046|1902/2298|634/765||,T|synonymous_variant|LOW|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|8/9|c.1626C>T|p.Ser542Ser|1626/3072|1626/2022|542/673||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|5/11|c.1902C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|10/11|c.1902C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|6/11|c.1902C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|9/11|c.1902C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|11/11|c.1902C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|8/11|c.1902C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|7/11|c.1902C>T||||||,T|downstream_gene_variant|MODIFIER|AC006547.14|ENSG00000234409|transcript|ENST00000439765|protein_coding||c.*1099G>A|||||4895|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding||c.*557C>T|||||3623|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript||n.*524C>T|||||2000|,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.*625C>T|||||2206|,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron||n.*909C>T|||||545| 22 20131115 . C T . . ANN=T|synonymous_variant|LOW|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|10/11|c.1962C>T|p.Asn654Asn|1962/3112|1962/2337|654/778||,T|synonymous_variant|LOW|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|10/11|c.1962C>T|p.Asn654Asn|2103/5046|1962/2298|654/765||,T|synonymous_variant|LOW|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|8/9|c.1686C>T|p.Asn562Asn|1686/3072|1686/2022|562/673||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|5/11|c.1962C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|10/11|c.1962C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|6/11|c.1962C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|9/11|c.1962C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|11/11|c.1962C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|8/11|c.1962C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|7/11|c.1962C>T||||||,T|downstream_gene_variant|MODIFIER|AC006547.14|ENSG00000234409|transcript|ENST00000439765|protein_coding||c.*1099G>A|||||4835|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding||c.*557C>T|||||3683|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript||n.*524C>T|||||2060|,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.*625C>T|||||2266|,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron||n.*909C>T|||||605|,T|downstream_gene_variant|MODIFIER|AC006547.14|ENSG00000234409|transcript|ENST00000444532|retained_intron||n.*628G>A|||||4994| 22 20131116 . G A . . ANN=A|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|10/11|c.1963G>A|p.Ala655Thr|1963/3112|1963/2337|655/778||,A|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|10/11|c.1963G>A|p.Ala655Thr|2104/5046|1963/2298|655/765||,A|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|8/9|c.1687G>A|p.Ala563Thr|1687/3072|1687/2022|563/673||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|5/11|c.1963G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|10/11|c.1963G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|6/11|c.1963G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|9/11|c.1963G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|11/11|c.1963G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|8/11|c.1963G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|7/11|c.1963G>A||||||,A|downstream_gene_variant|MODIFIER|AC006547.14|ENSG00000234409|transcript|ENST00000439765|protein_coding||c.*1099C>T|||||4834|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding||c.*557G>A|||||3684|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript||n.*524G>A|||||2061|,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.*625G>A|||||2267|,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron||n.*909G>A|||||606|,A|downstream_gene_variant|MODIFIER|AC006547.14|ENSG00000234409|transcript|ENST00000444532|retained_intron||n.*628C>T|||||4993| 22 20131121 . G C . . ANN=C|synonymous_variant|LOW|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|10/11|c.1968G>C|p.Pro656Pro|1968/3112|1968/2337|656/778||,C|synonymous_variant|LOW|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|10/11|c.1968G>C|p.Pro656Pro|2109/5046|1968/2298|656/765||,C|synonymous_variant|LOW|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|8/9|c.1692G>C|p.Pro564Pro|1692/3072|1692/2022|564/673||,C|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|5/11|c.1968G>C||||||,C|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|10/11|c.1968G>C||||||,C|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|6/11|c.1968G>C||||||,C|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|9/11|c.1968G>C||||||,C|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|11/11|c.1968G>C||||||,C|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|8/11|c.1968G>C||||||,C|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|7/11|c.1968G>C||||||,C|downstream_gene_variant|MODIFIER|AC006547.14|ENSG00000234409|transcript|ENST00000439765|protein_coding||c.*1099C>G|||||4829|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding||c.*557G>C|||||3689|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript||n.*524G>C|||||2066|,C|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.*625G>C|||||2272|,C|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron||n.*909G>C|||||611|,C|downstream_gene_variant|MODIFIER|AC006547.14|ENSG00000234409|transcript|ENST00000444532|retained_intron||n.*628C>G|||||4988| 22 20131213 . G A . . ANN=A|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|10/11|c.2060G>A|p.Gly687Asp|2060/3112|2060/2337|687/778||,A|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|10/11|c.2060G>A|p.Gly687Asp|2201/5046|2060/2298|687/765||,A|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|8/9|c.1784G>A|p.Gly595Asp|1784/3072|1784/2022|595/673||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|5/11|c.2060G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|10/11|c.2060G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|6/11|c.2060G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|9/11|c.2060G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|11/11|c.2060G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|8/11|c.2060G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|7/11|c.2060G>A||||||,A|downstream_gene_variant|MODIFIER|AC006547.14|ENSG00000234409|transcript|ENST00000439765|protein_coding||c.*1099C>T|||||4737|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding||c.*557G>A|||||3781|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript||n.*524G>A|||||2158|,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.*625G>A|||||2364|,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron||n.*909G>A|||||703|,A|downstream_gene_variant|MODIFIER|AC006547.14|ENSG00000234409|transcript|ENST00000444532|retained_intron||n.*628C>T|||||4896| 22 20132749 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|10/10|c.2127-3C>T||||||,T|splice_region_variant&intron_variant|LOW|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|8/8|c.1851-3C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|5/11|c.2127-3C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|10/11|c.2127-3C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|6/11|c.2127-3C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|9/11|c.2127-3C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|11/11|c.2127-3C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|8/11|c.2127-3C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|7/11|c.2127-3C>T||||||,T|downstream_gene_variant|MODIFIER|AC006547.14|ENSG00000234409|transcript|ENST00000439765|protein_coding||c.*1099G>A|||||3201|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript||n.*524C>T|||||3694|,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.*625C>T|||||3900|,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron||n.*909C>T|||||2239|,T|downstream_gene_variant|MODIFIER|AC006547.14|ENSG00000234409|transcript|ENST00000444532|retained_intron||n.*628G>A|||||3360|,T|downstream_gene_variant|MODIFIER|AC006547.14|ENSG00000234409|transcript|ENST00000540078|protein_coding||c.*660G>A|||||4337|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|10/10|c.2126+1470C>T|||||| 22 20132841 . G A . . ANN=A|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|11/11|c.2216G>A|p.Gly739Glu|2357/5046|2216/2298|739/765||,A|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|9/9|c.1940G>A|p.Gly647Glu|1940/3072|1940/2022|647/673||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|5/11|c.2216G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|10/11|c.2216G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|6/11|c.2216G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|9/11|c.2216G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|11/11|c.2216G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|8/11|c.2216G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|7/11|c.2216G>A||||||,A|downstream_gene_variant|MODIFIER|AC006547.14|ENSG00000234409|transcript|ENST00000439765|protein_coding||c.*1099C>T|||||3109|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript||n.*524G>A|||||3786|,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.*625G>A|||||3992|,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron||n.*909G>A|||||2331|,A|downstream_gene_variant|MODIFIER|AC006547.14|ENSG00000234409|transcript|ENST00000444532|retained_intron||n.*628C>T|||||3268|,A|downstream_gene_variant|MODIFIER|AC006547.14|ENSG00000234409|transcript|ENST00000540078|protein_coding||c.*660C>T|||||4245|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|10/10|c.2126+1562G>A|||||| 22 20132858 . A G . . ANN=G|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|11/11|c.2233A>G|p.Thr745Ala|2374/5046|2233/2298|745/765||,G|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|9/9|c.1957A>G|p.Thr653Ala|1957/3072|1957/2022|653/673||,G|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|5/11|c.2233A>G||||||,G|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|10/11|c.2233A>G||||||,G|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|6/11|c.2233A>G||||||,G|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|9/11|c.2233A>G||||||,G|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|11/11|c.2233A>G||||||,G|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|8/11|c.2233A>G||||||,G|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|7/11|c.2233A>G||||||,G|downstream_gene_variant|MODIFIER|AC006547.14|ENSG00000234409|transcript|ENST00000439765|protein_coding||c.*1099T>C|||||3092|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript||n.*524A>G|||||3803|,G|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.*625A>G|||||4009|,G|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron||n.*909A>G|||||2348|,G|downstream_gene_variant|MODIFIER|AC006547.14|ENSG00000234409|transcript|ENST00000444532|retained_intron||n.*628T>C|||||3251|,G|downstream_gene_variant|MODIFIER|AC006547.14|ENSG00000234409|transcript|ENST00000540078|protein_coding||c.*660T>C|||||4228|WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|10/10|c.2126+1579A>G|||||| 22 20132861 . C T . . ANN=T|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|11/11|c.2236C>T|p.Arg746Trp|2377/5046|2236/2298|746/765||,T|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|9/9|c.1960C>T|p.Arg654Trp|1960/3072|1960/2022|654/673||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|5/11|c.2236C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|10/11|c.2236C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|6/11|c.2236C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|9/11|c.2236C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|11/11|c.2236C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|8/11|c.2236C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|7/11|c.2236C>T||||||,T|downstream_gene_variant|MODIFIER|AC006547.14|ENSG00000234409|transcript|ENST00000439765|protein_coding||c.*1099G>A|||||3089|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript||n.*524C>T|||||3806|,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.*625C>T|||||4012|,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron||n.*909C>T|||||2351|,T|downstream_gene_variant|MODIFIER|AC006547.14|ENSG00000234409|transcript|ENST00000444532|retained_intron||n.*628G>A|||||3248|,T|downstream_gene_variant|MODIFIER|AC006547.14|ENSG00000234409|transcript|ENST00000540078|protein_coding||c.*660G>A|||||4225|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|10/10|c.2126+1582C>T|||||| 22 20132890 . C T . . ANN=T|synonymous_variant|LOW|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|11/11|c.2265C>T|p.Gly755Gly|2406/5046|2265/2298|755/765||,T|synonymous_variant|LOW|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|9/9|c.1989C>T|p.Gly663Gly|1989/3072|1989/2022|663/673||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|5/11|c.2265C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|10/11|c.2265C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|6/11|c.2265C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|9/11|c.2265C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|11/11|c.2265C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|8/11|c.2265C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|7/11|c.2265C>T||||||,T|downstream_gene_variant|MODIFIER|AC006547.14|ENSG00000234409|transcript|ENST00000439765|protein_coding||c.*1099G>A|||||3060|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript||n.*524C>T|||||3835|,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.*625C>T|||||4041|,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron||n.*909C>T|||||2380|,T|downstream_gene_variant|MODIFIER|AC006547.14|ENSG00000234409|transcript|ENST00000444532|retained_intron||n.*628G>A|||||3219|,T|downstream_gene_variant|MODIFIER|AC006547.14|ENSG00000234409|transcript|ENST00000540078|protein_coding||c.*660G>A|||||4196|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|10/10|c.2126+1611C>T|||||| 22 20132932 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|11/11|c.*9T>C|||||9|,C|3_prime_UTR_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|9/9|c.*9T>C|||||9|,C|downstream_gene_variant|MODIFIER|AC006547.14|ENSG00000234409|transcript|ENST00000439765|protein_coding||c.*1099A>G|||||3018|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript||n.*524T>C|||||3877|,C|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.*625T>C|||||4083|,C|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron||n.*909T>C|||||2422|,C|downstream_gene_variant|MODIFIER|AC006547.14|ENSG00000234409|transcript|ENST00000444532|retained_intron||n.*628A>G|||||3177|,C|downstream_gene_variant|MODIFIER|AC006547.14|ENSG00000234409|transcript|ENST00000540078|protein_coding||c.*660A>G|||||4154|WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|10/10|c.2127-1612T>C|||||| 22 20132972 . A G . . ANN=G|3_prime_UTR_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|11/11|c.*49A>G|||||49|,G|3_prime_UTR_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|9/9|c.*49A>G|||||49|,G|downstream_gene_variant|MODIFIER|AC006547.14|ENSG00000234409|transcript|ENST00000439765|protein_coding||c.*1099T>C|||||2978|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript||n.*524A>G|||||3917|,G|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.*625A>G|||||4123|,G|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron||n.*909A>G|||||2462|,G|downstream_gene_variant|MODIFIER|AC006547.14|ENSG00000234409|transcript|ENST00000444532|retained_intron||n.*628T>C|||||3137|,G|downstream_gene_variant|MODIFIER|AC006547.14|ENSG00000234409|transcript|ENST00000540078|protein_coding||c.*660T>C|||||4114|WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|10/10|c.2127-1572A>G|||||| 22 20229461 . G A . . ANN=A|missense_variant|MODERATE|RTN4R|ENSG00000040608|transcript|ENST00000425986|protein_coding|2/2|c.1450C>T|p.Arg484Trp|1452/1973|1450/1677|484/558||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|RTN4R|ENSG00000040608|transcript|ENST00000416372|protein_coding|2/2|c.1252C>T|p.Arg418Trp|1254/1777|1252/1479|418/492||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|RTN4R|ENSG00000040608|transcript|ENST00000043402|protein_coding|2/2|c.1195C>T|p.Arg399Trp|1634/2157|1195/1422|399/473||,A|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000469601|processed_transcript||n.*672C>T|||||659|,A|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000474642|processed_transcript||n.*559C>T|||||911|,A|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000463936|processed_transcript||n.*458C>T|||||1082| 22 20229474 . C T . . ANN=T|synonymous_variant|LOW|RTN4R|ENSG00000040608|transcript|ENST00000425986|protein_coding|2/2|c.1437G>A|p.Pro479Pro|1439/1973|1437/1677|479/558||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|RTN4R|ENSG00000040608|transcript|ENST00000416372|protein_coding|2/2|c.1239G>A|p.Pro413Pro|1241/1777|1239/1479|413/492||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|RTN4R|ENSG00000040608|transcript|ENST00000043402|protein_coding|2/2|c.1182G>A|p.Pro394Pro|1621/2157|1182/1422|394/473||,T|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000469601|processed_transcript||n.*672G>A|||||646|,T|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000474642|processed_transcript||n.*559G>A|||||898|,T|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000463936|processed_transcript||n.*458G>A|||||1069| 22 20229501 . C A . . ANN=A|synonymous_variant|LOW|RTN4R|ENSG00000040608|transcript|ENST00000425986|protein_coding|2/2|c.1410G>T|p.Gly470Gly|1412/1973|1410/1677|470/558||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|RTN4R|ENSG00000040608|transcript|ENST00000416372|protein_coding|2/2|c.1212G>T|p.Gly404Gly|1214/1777|1212/1479|404/492||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|RTN4R|ENSG00000040608|transcript|ENST00000043402|protein_coding|2/2|c.1155G>T|p.Gly385Gly|1594/2157|1155/1422|385/473||,A|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000469601|processed_transcript||n.*672G>T|||||619|,A|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000474642|processed_transcript||n.*559G>T|||||871|,A|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000463936|processed_transcript||n.*458G>T|||||1042| 22 20229561 . G A . . ANN=A|synonymous_variant|LOW|RTN4R|ENSG00000040608|transcript|ENST00000425986|protein_coding|2/2|c.1350C>T|p.Pro450Pro|1352/1973|1350/1677|450/558||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|RTN4R|ENSG00000040608|transcript|ENST00000416372|protein_coding|2/2|c.1152C>T|p.Pro384Pro|1154/1777|1152/1479|384/492||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|RTN4R|ENSG00000040608|transcript|ENST00000043402|protein_coding|2/2|c.1095C>T|p.Pro365Pro|1534/2157|1095/1422|365/473||,A|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000469601|processed_transcript||n.*672C>T|||||559|,A|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000474642|processed_transcript||n.*559C>T|||||811|,A|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000463936|processed_transcript||n.*458C>T|||||982| 22 20229564 . C T . . ANN=T|synonymous_variant|LOW|RTN4R|ENSG00000040608|transcript|ENST00000425986|protein_coding|2/2|c.1347G>A|p.Pro449Pro|1349/1973|1347/1677|449/558||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|RTN4R|ENSG00000040608|transcript|ENST00000416372|protein_coding|2/2|c.1149G>A|p.Pro383Pro|1151/1777|1149/1479|383/492||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|RTN4R|ENSG00000040608|transcript|ENST00000043402|protein_coding|2/2|c.1092G>A|p.Pro364Pro|1531/2157|1092/1422|364/473||,T|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000469601|processed_transcript||n.*672G>A|||||556|,T|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000474642|processed_transcript||n.*559G>A|||||808|,T|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000463936|processed_transcript||n.*458G>A|||||979| 22 20229569 . C T . . ANN=T|missense_variant|MODERATE|RTN4R|ENSG00000040608|transcript|ENST00000425986|protein_coding|2/2|c.1342G>A|p.Val448Met|1344/1973|1342/1677|448/558||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|RTN4R|ENSG00000040608|transcript|ENST00000416372|protein_coding|2/2|c.1144G>A|p.Val382Met|1146/1777|1144/1479|382/492||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|RTN4R|ENSG00000040608|transcript|ENST00000043402|protein_coding|2/2|c.1087G>A|p.Val363Met|1526/2157|1087/1422|363/473||,T|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000469601|processed_transcript||n.*672G>A|||||551|,T|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000474642|processed_transcript||n.*559G>A|||||803|,T|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000463936|processed_transcript||n.*458G>A|||||974| 22 20229635 . C A . . ANN=A|missense_variant|MODERATE|RTN4R|ENSG00000040608|transcript|ENST00000425986|protein_coding|2/2|c.1276G>T|p.Ala426Ser|1278/1973|1276/1677|426/558||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|RTN4R|ENSG00000040608|transcript|ENST00000416372|protein_coding|2/2|c.1078G>T|p.Ala360Ser|1080/1777|1078/1479|360/492||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|RTN4R|ENSG00000040608|transcript|ENST00000043402|protein_coding|2/2|c.1021G>T|p.Ala341Ser|1460/2157|1021/1422|341/473||,A|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000469601|processed_transcript||n.*672G>T|||||485|,A|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000474642|processed_transcript||n.*559G>T|||||737|,A|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000463936|processed_transcript||n.*458G>T|||||908| 22 20229716 . C T . . ANN=T|missense_variant|MODERATE|RTN4R|ENSG00000040608|transcript|ENST00000425986|protein_coding|2/2|c.1195G>A|p.Gly399Ser|1197/1973|1195/1677|399/558||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|RTN4R|ENSG00000040608|transcript|ENST00000416372|protein_coding|2/2|c.997G>A|p.Gly333Ser|999/1777|997/1479|333/492||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|RTN4R|ENSG00000040608|transcript|ENST00000043402|protein_coding|2/2|c.940G>A|p.Gly314Ser|1379/2157|940/1422|314/473||,T|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000469601|processed_transcript||n.*672G>A|||||404|,T|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000474642|processed_transcript||n.*559G>A|||||656|,T|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000463936|processed_transcript||n.*458G>A|||||827| 22 20230007 . C G . . ANN=G|missense_variant|MODERATE|RTN4R|ENSG00000040608|transcript|ENST00000425986|protein_coding|2/2|c.904G>C|p.Val302Leu|906/1973|904/1677|302/558||WARNING_TRANSCRIPT_NO_START_CODON,G|missense_variant|MODERATE|RTN4R|ENSG00000040608|transcript|ENST00000416372|protein_coding|2/2|c.706G>C|p.Val236Leu|708/1777|706/1479|236/492||WARNING_TRANSCRIPT_NO_START_CODON,G|missense_variant|MODERATE|RTN4R|ENSG00000040608|transcript|ENST00000043402|protein_coding|2/2|c.649G>C|p.Val217Leu|1088/2157|649/1422|217/473||,G|sequence_feature|LOW|RTN4R|ENSG00000040608|repeat:LRR_7|ENST00000043402|protein_coding|2/2|c.649G>C||||||,G|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000469601|processed_transcript||n.*672G>C|||||113|,G|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000474642|processed_transcript||n.*559G>C|||||365|,G|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000463936|processed_transcript||n.*458G>C|||||536| 22 20230080 . G A . . ANN=A|synonymous_variant|LOW|RTN4R|ENSG00000040608|transcript|ENST00000425986|protein_coding|2/2|c.831C>T|p.Ser277Ser|833/1973|831/1677|277/558||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|RTN4R|ENSG00000040608|transcript|ENST00000416372|protein_coding|2/2|c.633C>T|p.Ser211Ser|635/1777|633/1479|211/492||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|RTN4R|ENSG00000040608|transcript|ENST00000043402|protein_coding|2/2|c.576C>T|p.Ser192Ser|1015/2157|576/1422|192/473||,A|sequence_feature|LOW|RTN4R|ENSG00000040608|repeat:LRR_6|ENST00000043402|protein_coding|2/2|c.576C>T||||||,A|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000469601|processed_transcript||n.*672C>T|||||40|,A|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000474642|processed_transcript||n.*559C>T|||||292|,A|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000463936|processed_transcript||n.*458C>T|||||463| 22 20230163 . C T . . ANN=T|missense_variant|MODERATE|RTN4R|ENSG00000040608|transcript|ENST00000425986|protein_coding|2/2|c.748G>A|p.Ala250Thr|750/1973|748/1677|250/558||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|RTN4R|ENSG00000040608|transcript|ENST00000416372|protein_coding|2/2|c.550G>A|p.Ala184Thr|552/1777|550/1479|184/492||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|RTN4R|ENSG00000040608|transcript|ENST00000043402|protein_coding|2/2|c.493G>A|p.Ala165Thr|932/2157|493/1422|165/473||,T|sequence_feature|LOW|RTN4R|ENSG00000040608|repeat:LRR_5|ENST00000043402|protein_coding|2/2|c.493G>A||||||,T|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000474642|processed_transcript||n.*559G>A|||||209|,T|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000463936|processed_transcript||n.*458G>A|||||380|,T|non_coding_exon_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000469601|processed_transcript|2/2|n.629G>A|||||| 22 20230264 . C T . . ANN=T|missense_variant|MODERATE|RTN4R|ENSG00000040608|transcript|ENST00000425986|protein_coding|2/2|c.647G>A|p.Arg216His|649/1973|647/1677|216/558||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|RTN4R|ENSG00000040608|transcript|ENST00000416372|protein_coding|2/2|c.449G>A|p.Arg150His|451/1777|449/1479|150/492||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|RTN4R|ENSG00000040608|transcript|ENST00000043402|protein_coding|2/2|c.392G>A|p.Arg131His|831/2157|392/1422|131/473||,T|sequence_feature|LOW|RTN4R|ENSG00000040608|repeat:LRR_4|ENST00000043402|protein_coding|2/2|c.392G>A||||||,T|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000474642|processed_transcript||n.*559G>A|||||108|,T|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000463936|processed_transcript||n.*458G>A|||||279|,T|non_coding_exon_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000469601|processed_transcript|2/2|n.528G>A|||||| 22 20230301 . G A . . ANN=A|missense_variant|MODERATE|RTN4R|ENSG00000040608|transcript|ENST00000425986|protein_coding|2/2|c.610C>T|p.Arg204Trp|612/1973|610/1677|204/558||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|RTN4R|ENSG00000040608|transcript|ENST00000416372|protein_coding|2/2|c.412C>T|p.Arg138Trp|414/1777|412/1479|138/492||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|RTN4R|ENSG00000040608|transcript|ENST00000043402|protein_coding|2/2|c.355C>T|p.Arg119Trp|794/2157|355/1422|119/473||,A|sequence_feature|LOW|RTN4R|ENSG00000040608|repeat:LRR_3|ENST00000043402|protein_coding|2/2|c.355C>T||||||,A|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000474642|processed_transcript||n.*559C>T|||||71|,A|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000463936|processed_transcript||n.*458C>T|||||242|,A|non_coding_exon_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000469601|processed_transcript|2/2|n.491C>T|||||| 22 20230317 . G A . . ANN=A|synonymous_variant|LOW|RTN4R|ENSG00000040608|transcript|ENST00000425986|protein_coding|2/2|c.594C>T|p.Ser198Ser|596/1973|594/1677|198/558||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|RTN4R|ENSG00000040608|transcript|ENST00000416372|protein_coding|2/2|c.396C>T|p.Ser132Ser|398/1777|396/1479|132/492||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|RTN4R|ENSG00000040608|transcript|ENST00000043402|protein_coding|2/2|c.339C>T|p.Ser113Ser|778/2157|339/1422|113/473||,A|sequence_feature|LOW|RTN4R|ENSG00000040608|repeat:LRR_3|ENST00000043402|protein_coding|2/2|c.339C>T||||||,A|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000474642|processed_transcript||n.*559C>T|||||55|,A|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000463936|processed_transcript||n.*458C>T|||||226|,A|non_coding_exon_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000469601|processed_transcript|2/2|n.475C>T|||||| 22 20230386 . C T . . ANN=T|synonymous_variant|LOW|RTN4R|ENSG00000040608|transcript|ENST00000425986|protein_coding|2/2|c.525G>A|p.Ser175Ser|527/1973|525/1677|175/558||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|RTN4R|ENSG00000040608|transcript|ENST00000416372|protein_coding|2/2|c.327G>A|p.Ser109Ser|329/1777|327/1479|109/492||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|RTN4R|ENSG00000040608|transcript|ENST00000043402|protein_coding|2/2|c.270G>A|p.Ser90Ser|709/2157|270/1422|90/473||,T|sequence_feature|LOW|RTN4R|ENSG00000040608|repeat:LRR_2|ENST00000043402|protein_coding|2/2|c.270G>A||||||,T|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000463936|processed_transcript||n.*458G>A|||||157|,T|non_coding_exon_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000469601|processed_transcript|2/2|n.406G>A||||||,T|non_coding_exon_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000474642|processed_transcript|3/3|n.545G>A|||||| 22 20230390 . T G . . ANN=G|missense_variant|MODERATE|RTN4R|ENSG00000040608|transcript|ENST00000425986|protein_coding|2/2|c.521A>C|p.His174Pro|523/1973|521/1677|174/558||WARNING_TRANSCRIPT_NO_START_CODON,G|missense_variant|MODERATE|RTN4R|ENSG00000040608|transcript|ENST00000416372|protein_coding|2/2|c.323A>C|p.His108Pro|325/1777|323/1479|108/492||WARNING_TRANSCRIPT_NO_START_CODON,G|missense_variant|MODERATE|RTN4R|ENSG00000040608|transcript|ENST00000043402|protein_coding|2/2|c.266A>C|p.His89Pro|705/2157|266/1422|89/473||,G|sequence_feature|LOW|RTN4R|ENSG00000040608|repeat:LRR_2|ENST00000043402|protein_coding|2/2|c.266A>C||||||,G|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000463936|processed_transcript||n.*458A>C|||||153|,G|non_coding_exon_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000469601|processed_transcript|2/2|n.402A>C||||||,G|non_coding_exon_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000474642|processed_transcript|3/3|n.541A>C|||||| 22 20230464 . C A . . ANN=A|synonymous_variant|LOW|RTN4R|ENSG00000040608|transcript|ENST00000425986|protein_coding|2/2|c.447G>T|p.Leu149Leu|449/1973|447/1677|149/558||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|RTN4R|ENSG00000040608|transcript|ENST00000416372|protein_coding|2/2|c.249G>T|p.Leu83Leu|251/1777|249/1479|83/492||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|RTN4R|ENSG00000040608|transcript|ENST00000043402|protein_coding|2/2|c.192G>T|p.Leu64Leu|631/2157|192/1422|64/473||,A|sequence_feature|LOW|RTN4R|ENSG00000040608|repeat:LRR_1|ENST00000043402|protein_coding|2/2|c.192G>T||||||,A|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000463936|processed_transcript||n.*458G>T|||||79|,A|non_coding_exon_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000469601|processed_transcript|2/2|n.328G>T||||||,A|non_coding_exon_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000474642|processed_transcript|3/3|n.467G>T|||||| 22 20230572 . T C . . ANN=C|synonymous_variant|LOW|RTN4R|ENSG00000040608|transcript|ENST00000425986|protein_coding|2/2|c.339A>G|p.Pro113Pro|341/1973|339/1677|113/558||WARNING_TRANSCRIPT_NO_START_CODON,C|synonymous_variant|LOW|RTN4R|ENSG00000040608|transcript|ENST00000416372|protein_coding|2/2|c.141A>G|p.Pro47Pro|143/1777|141/1479|47/492||WARNING_TRANSCRIPT_NO_START_CODON,C|synonymous_variant|LOW|RTN4R|ENSG00000040608|transcript|ENST00000043402|protein_coding|2/2|c.84A>G|p.Pro28Pro|523/2157|84/1422|28/473||,C|sequence_feature|LOW|RTN4R|ENSG00000040608|domain:LRRNT|ENST00000043402|protein_coding|2/2|c.84A>G||||||,C|sequence_feature|LOW|RTN4R|ENSG00000040608|disulfide_bond|ENST00000043402|protein_coding|2/2|c.84A>G||||||,C|non_coding_exon_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000469601|processed_transcript|2/2|n.220A>G||||||,C|non_coding_exon_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000474642|processed_transcript|3/3|n.359A>G||||||,C|non_coding_exon_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000463936|processed_transcript|2/2|n.429A>G|||||| 22 20302276 . A T . . ANN=T|missense_variant|MODERATE|DGCR6L|ENSG00000128185|transcript|ENST00000248879|protein_coding|5/5|c.585T>A|p.Asn195Lys|677/1154|585/663|195/220||,T|missense_variant|MODERATE|DGCR6L|ENSG00000128185|transcript|ENST00000405465|protein_coding|4/4|c.471T>A|p.Asn157Lys|492/962|471/549|157/182||,T|3_prime_UTR_variant|MODIFIER|DGCR6L|ENSG00000128185|transcript|ENST00000443409|nonsense_mediated_decay|4/4|n.*190T>A|||||701|,T|downstream_gene_variant|MODIFIER|XXbac-B444P24.10|ENSG00000161132|transcript|ENST00000438948|unprocessed_pseudogene||n.*1240A>T|||||1537|,T|downstream_gene_variant|MODIFIER|XXbac-B444P24.13|ENSG00000273343|transcript|ENST00000608275|sense_intronic||n.*631T>A|||||3366|,T|non_coding_exon_variant|MODIFIER|DGCR6L|ENSG00000128185|transcript|ENST00000443409|nonsense_mediated_decay|4/4|n.*190T>A|||||| 22 20302837 . C G . . ANN=G|downstream_gene_variant|MODIFIER|XXbac-B444P24.10|ENSG00000161132|transcript|ENST00000438948|unprocessed_pseudogene||n.*1240C>G|||||2098|,G|downstream_gene_variant|MODIFIER|XXbac-B444P24.13|ENSG00000273343|transcript|ENST00000608275|sense_intronic||n.*631G>C|||||2805|,G|intron_variant|MODIFIER|DGCR6L|ENSG00000128185|transcript|ENST00000248879|protein_coding|4/4|c.513+22G>C||||||,G|intron_variant|MODIFIER|DGCR6L|ENSG00000128185|transcript|ENST00000405465|protein_coding|3/3|c.399+22G>C||||||,G|intron_variant|MODIFIER|DGCR6L|ENSG00000128185|transcript|ENST00000443409|nonsense_mediated_decay|3/3|n.*118+22G>C|||||| 22 20302968 . C T . . ANN=T|missense_variant|MODERATE|DGCR6L|ENSG00000128185|transcript|ENST00000248879|protein_coding|4/5|c.404G>A|p.Arg135Gln|496/1154|404/663|135/220||,T|missense_variant|MODERATE|DGCR6L|ENSG00000128185|transcript|ENST00000405465|protein_coding|3/4|c.290G>A|p.Arg97Gln|311/962|290/549|97/182||,T|sequence_feature|LOW|DGCR6L|ENSG00000128185|coiled-coil_region|ENST00000248879|protein_coding|3/5|c.404G>A||||||,T|sequence_feature|LOW|DGCR6L|ENSG00000128185|coiled-coil_region|ENST00000248879|protein_coding|2/5|c.404G>A||||||,T|sequence_feature|LOW|DGCR6L|ENSG00000128185|coiled-coil_region|ENST00000248879|protein_coding|4/5|c.404G>A||||||,T|3_prime_UTR_variant|MODIFIER|DGCR6L|ENSG00000128185|transcript|ENST00000443409|nonsense_mediated_decay|3/4|n.*9G>A|||||9|,T|downstream_gene_variant|MODIFIER|XXbac-B444P24.10|ENSG00000161132|transcript|ENST00000438948|unprocessed_pseudogene||n.*1240C>T|||||2229|,T|downstream_gene_variant|MODIFIER|XXbac-B444P24.13|ENSG00000273343|transcript|ENST00000608275|sense_intronic||n.*631G>A|||||2674|,T|non_coding_exon_variant|MODIFIER|DGCR6L|ENSG00000128185|transcript|ENST00000443409|nonsense_mediated_decay|3/4|n.*9G>A|||||| 22 20302997 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|DGCR6L|ENSG00000128185|transcript|ENST00000248879|protein_coding|4/5|c.375C>T|p.Ala125Ala|467/1154|375/663|125/220||,A|splice_region_variant&synonymous_variant|LOW|DGCR6L|ENSG00000128185|transcript|ENST00000405465|protein_coding|3/4|c.261C>T|p.Ala87Ala|282/962|261/549|87/182||,A|splice_region_variant&non_coding_exon_variant|LOW|DGCR6L|ENSG00000128185|transcript|ENST00000443409|nonsense_mediated_decay|3/4|n.274C>T||||||,A|sequence_feature|LOW|DGCR6L|ENSG00000128185|coiled-coil_region|ENST00000248879|protein_coding|3/5|c.375C>T||||||,A|sequence_feature|LOW|DGCR6L|ENSG00000128185|coiled-coil_region|ENST00000248879|protein_coding|2/5|c.375C>T||||||,A|sequence_feature|LOW|DGCR6L|ENSG00000128185|coiled-coil_region|ENST00000248879|protein_coding|4/5|c.375C>T||||||,A|downstream_gene_variant|MODIFIER|XXbac-B444P24.10|ENSG00000161132|transcript|ENST00000438948|unprocessed_pseudogene||n.*1240G>A|||||2258|,A|downstream_gene_variant|MODIFIER|XXbac-B444P24.13|ENSG00000273343|transcript|ENST00000608275|sense_intronic||n.*631C>T|||||2645| 22 20303017 . C T . . ANN=T|sequence_feature|LOW|DGCR6L|ENSG00000128185|coiled-coil_region|ENST00000248879|protein_coding|3/5|c.373-18G>A||||||,T|sequence_feature|LOW|DGCR6L|ENSG00000128185|coiled-coil_region|ENST00000248879|protein_coding|2/5|c.373-18G>A||||||,T|sequence_feature|LOW|DGCR6L|ENSG00000128185|coiled-coil_region|ENST00000248879|protein_coding|4/5|c.373-18G>A||||||,T|downstream_gene_variant|MODIFIER|XXbac-B444P24.10|ENSG00000161132|transcript|ENST00000438948|unprocessed_pseudogene||n.*1240C>T|||||2278|,T|downstream_gene_variant|MODIFIER|XXbac-B444P24.13|ENSG00000273343|transcript|ENST00000608275|sense_intronic||n.*631G>A|||||2625|,T|intron_variant|MODIFIER|DGCR6L|ENSG00000128185|transcript|ENST00000248879|protein_coding|3/4|c.373-18G>A||||||,T|intron_variant|MODIFIER|DGCR6L|ENSG00000128185|transcript|ENST00000405465|protein_coding|2/3|c.259-18G>A||||||,T|intron_variant|MODIFIER|DGCR6L|ENSG00000128185|transcript|ENST00000443409|nonsense_mediated_decay|2/3|n.272-18G>A|||||| 22 20303019 . C T . . ANN=T|sequence_feature|LOW|DGCR6L|ENSG00000128185|coiled-coil_region|ENST00000248879|protein_coding|3/5|c.373-20G>A||||||,T|sequence_feature|LOW|DGCR6L|ENSG00000128185|coiled-coil_region|ENST00000248879|protein_coding|2/5|c.373-20G>A||||||,T|sequence_feature|LOW|DGCR6L|ENSG00000128185|coiled-coil_region|ENST00000248879|protein_coding|4/5|c.373-20G>A||||||,T|downstream_gene_variant|MODIFIER|XXbac-B444P24.10|ENSG00000161132|transcript|ENST00000438948|unprocessed_pseudogene||n.*1240C>T|||||2280|,T|downstream_gene_variant|MODIFIER|XXbac-B444P24.13|ENSG00000273343|transcript|ENST00000608275|sense_intronic||n.*631G>A|||||2623|,T|intron_variant|MODIFIER|DGCR6L|ENSG00000128185|transcript|ENST00000248879|protein_coding|3/4|c.373-20G>A||||||,T|intron_variant|MODIFIER|DGCR6L|ENSG00000128185|transcript|ENST00000405465|protein_coding|2/3|c.259-20G>A||||||,T|intron_variant|MODIFIER|DGCR6L|ENSG00000128185|transcript|ENST00000443409|nonsense_mediated_decay|2/3|n.272-20G>A|||||| 22 20303024 . G C . . ANN=C|sequence_feature|LOW|DGCR6L|ENSG00000128185|coiled-coil_region|ENST00000248879|protein_coding|3/5|c.373-25C>G||||||,C|sequence_feature|LOW|DGCR6L|ENSG00000128185|coiled-coil_region|ENST00000248879|protein_coding|2/5|c.373-25C>G||||||,C|sequence_feature|LOW|DGCR6L|ENSG00000128185|coiled-coil_region|ENST00000248879|protein_coding|4/5|c.373-25C>G||||||,C|downstream_gene_variant|MODIFIER|XXbac-B444P24.10|ENSG00000161132|transcript|ENST00000438948|unprocessed_pseudogene||n.*1240G>C|||||2285|,C|downstream_gene_variant|MODIFIER|XXbac-B444P24.13|ENSG00000273343|transcript|ENST00000608275|sense_intronic||n.*631C>G|||||2618|,C|intron_variant|MODIFIER|DGCR6L|ENSG00000128185|transcript|ENST00000248879|protein_coding|3/4|c.373-25C>G||||||,C|intron_variant|MODIFIER|DGCR6L|ENSG00000128185|transcript|ENST00000405465|protein_coding|2/3|c.259-25C>G||||||,C|intron_variant|MODIFIER|DGCR6L|ENSG00000128185|transcript|ENST00000443409|nonsense_mediated_decay|2/3|n.272-25C>G|||||| 22 20303664 . G A . . ANN=A|missense_variant|MODERATE|DGCR6L|ENSG00000128185|transcript|ENST00000248879|protein_coding|3/5|c.350C>T|p.Ala117Val|442/1154|350/663|117/220||,A|sequence_feature|LOW|DGCR6L|ENSG00000128185|coiled-coil_region|ENST00000248879|protein_coding|3/5|c.350C>T||||||,A|sequence_feature|LOW|DGCR6L|ENSG00000128185|coiled-coil_region|ENST00000248879|protein_coding|2/5|c.350C>T||||||,A|sequence_feature|LOW|DGCR6L|ENSG00000128185|coiled-coil_region|ENST00000248879|protein_coding|4/5|c.350C>T||||||,A|upstream_gene_variant|MODIFIER|XXbac-B444P24.14|ENSG00000273139|transcript|ENST00000609632|lincRNA||n.-1G>A|||||4598|,A|downstream_gene_variant|MODIFIER|XXbac-B444P24.10|ENSG00000161132|transcript|ENST00000438948|unprocessed_pseudogene||n.*1240G>A|||||2925|,A|downstream_gene_variant|MODIFIER|XXbac-B444P24.13|ENSG00000273343|transcript|ENST00000608275|sense_intronic||n.*631C>T|||||1978|,A|intron_variant|MODIFIER|DGCR6L|ENSG00000128185|transcript|ENST00000405465|protein_coding|2/3|c.259-665C>T||||||,A|intron_variant|MODIFIER|DGCR6L|ENSG00000128185|transcript|ENST00000443409|nonsense_mediated_decay|2/3|n.272-665C>T|||||| 22 20307346 . G GC . . ANN=C|upstream_gene_variant|MODIFIER|XXbac-B444P24.13|ENSG00000273343|transcript|ENST00000608275|sense_intronic||n.-1dupG|||||1075|,C|upstream_gene_variant|MODIFIER|XXbac-B444P24.14|ENSG00000273139|transcript|ENST00000609632|lincRNA||n.-1_-1insC|||||915|,C|intron_variant|MODIFIER|DGCR6L|ENSG00000128185|transcript|ENST00000248879|protein_coding|1/4|c.111-25dupG||||||,C|intron_variant|MODIFIER|DGCR6L|ENSG00000128185|transcript|ENST00000405465|protein_coding|1/3|c.111-38dupG||||||,C|intron_variant|MODIFIER|DGCR6L|ENSG00000128185|transcript|ENST00000443409|nonsense_mediated_decay|1/3|n.111-25dupG|||||| 22 20307520 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|DGCR6L|ENSG00000128185|transcript|ENST00000248879|protein_coding|1/5|c.-9G>A|||||9|,T|5_prime_UTR_variant|MODIFIER|DGCR6L|ENSG00000128185|transcript|ENST00000405465|protein_coding|1/4|c.-9G>A|||||9|,T|5_prime_UTR_variant|MODIFIER|DGCR6L|ENSG00000128185|transcript|ENST00000443409|nonsense_mediated_decay|1/4|n.-9G>A|||||9|,T|upstream_gene_variant|MODIFIER|XXbac-B444P24.13|ENSG00000273343|transcript|ENST00000608275|sense_intronic||n.-1G>A|||||1248|,T|upstream_gene_variant|MODIFIER|XXbac-B444P24.14|ENSG00000273139|transcript|ENST00000609632|lincRNA||n.-1C>T|||||742|,T|non_coding_exon_variant|MODIFIER|DGCR6L|ENSG00000128185|transcript|ENST00000443409|nonsense_mediated_decay|1/4|n.-9G>A|||||| 22 20457872 . C CA . . ANN=A|frameshift_variant|HIGH|RIMBP3|ENSG00000196622|transcript|ENST00000426804|protein_coding|1/1|c.3429dupT|p.Gly1144fs|3914/5784|3429/4920|1143/1639||,A|sequence_feature|LOW|RIMBP3|ENSG00000196622|domain:Fibronectin_type-III_2|ENST00000426804|protein_coding|1/1|c.3429dupT||||||,A|upstream_gene_variant|MODIFIER|RN7SKP131|ENSG00000199876|transcript|ENST00000363006|misc_RNA||n.-1dupT|||||1904|,A|downstream_gene_variant|MODIFIER|SCARNA17|ENSG00000252571|transcript|ENST00000516762|snoRNA||n.*143_*143insA|||||2509|,A|downstream_gene_variant|MODIFIER|SCARNA18|ENSG00000252024|transcript|ENST00000516215|snoRNA||n.*83_*83insA|||||2341|;LOF=(RIMBP3|ENSG00000196622|1|1.00) 22 20458100 . A ACACCTG . . ANN=CACCTG|inframe_insertion|MODERATE|RIMBP3|ENSG00000196622|transcript|ENST00000426804|protein_coding|1/1|c.3196_3201dupCAGGTG|p.Gln1066_Val1067dup|3686/5784|3201/4920|1067/1639||,CACCTG|sequence_feature|LOW|RIMBP3|ENSG00000196622|domain:Fibronectin_type-III_1|ENST00000426804|protein_coding|1/1|c.3196_3201dupCAGGTG||||||,CACCTG|upstream_gene_variant|MODIFIER|RN7SKP131|ENSG00000199876|transcript|ENST00000363006|misc_RNA||n.-1_-1dupCAGGTG|||||2132|,CACCTG|downstream_gene_variant|MODIFIER|SCARNA17|ENSG00000252571|transcript|ENST00000516762|snoRNA||n.*143_*143insCACCTG|||||2737|,CACCTG|downstream_gene_variant|MODIFIER|SCARNA18|ENSG00000252024|transcript|ENST00000516215|snoRNA||n.*83_*83insCACCTG|||||2569| 22 20748934 . C T . . ANN=T|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000356671|protein_coding|2/6|c.16C>T|p.Pro6Ser|228/2503|16/1935|6/644||,T|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000400451|protein_coding|1/5|c.16C>T|p.Pro6Ser|530/3159|16/1935|6/644||,T|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000403682|protein_coding|1/4|c.16C>T|p.Pro6Ser|517/2789|16/537|6/178||,T|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000420626|protein_coding|1/2|c.16C>T|p.Pro6Ser|456/591|16/151|6/49||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000405993|protein_coding|1/4|c.16C>T|p.Pro6Ser|16/1839|16/1839|6/612||,T|upstream_gene_variant|MODIFIER|USP41|ENSG00000161133|transcript|ENST00000454608|protein_coding||c.-1G>A|||||3886|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000476678|retained_intron||n.-1C>T|||||4867|,T|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000357502|protein_coding|1/4|c.50+310C>T||||||,T|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000493734|retained_intron|1/4|n.457C>T||||||,T|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|1/6|n.16C>T|||||| 22 20748994 . A G . . ANN=G|upstream_gene_variant|MODIFIER|USP41|ENSG00000161133|transcript|ENST00000454608|protein_coding||c.-1T>C|||||3946|WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000476678|retained_intron||n.-1A>G|||||4807|,G|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000356671|protein_coding|2/5|c.34+42A>G||||||,G|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000400451|protein_coding|1/4|c.34+42A>G||||||,G|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000403682|protein_coding|1/3|c.34+42A>G||||||,G|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000357502|protein_coding|1/4|c.50+370A>G||||||,G|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000420626|protein_coding|1/1|c.34+42A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|1/5|n.34+42A>G||||||,G|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000405993|protein_coding|1/3|c.34+42A>G||||||,G|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000493734|retained_intron|1/4|n.517A>G|||||| 22 20749694 . G A . . ANN=A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000356671|protein_coding|3/6|c.106G>A|p.Glu36Lys|318/2503|106/1935|36/644||,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000400451|protein_coding|2/5|c.106G>A|p.Glu36Lys|620/3159|106/1935|36/644||,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000357502|protein_coding|2/5|c.122G>A|p.Arg41Gln|246/2788|122/639|41/212||,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000405993|protein_coding|2/4|c.106G>A|p.Glu36Lys|106/1839|106/1839|36/612||,A|upstream_gene_variant|MODIFIER|USP41|ENSG00000161133|transcript|ENST00000454608|protein_coding||c.-1C>T|||||4646|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000476678|retained_intron||n.-1G>A|||||4107|,A|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000403682|protein_coding|1/3|c.34+742G>A||||||,A|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000420626|protein_coding|1/1|c.34+742G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000493734|retained_intron|1/4|n.1217G>A||||||,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|2/6|n.106G>A|||||| 22 20754872 . A G . . ANN=G|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000356671|protein_coding|3/5|c.121-50A>G||||||,G|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000400451|protein_coding|2/4|c.121-50A>G||||||,G|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000403682|protein_coding|1/3|c.35-50A>G||||||,G|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000357502|protein_coding|2/4|c.137-50A>G||||||,G|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000493734|retained_intron|1/3|n.1232-50A>G||||||,G|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000420626|protein_coding|1/1|c.35-4795A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|3/5|n.*7-50A>G||||||,G|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000405993|protein_coding|2/3|c.121-50A>G||||||,G|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000476678|retained_intron|1/2|n.1072A>G|||||| 22 20755067 . C G . . ANN=G|sequence_feature|LOW|ZNF74|ENSG00000185252|domain:KRAB|ENST00000356671|protein_coding|4/6|c.247+19C>G||||||,G|sequence_feature|LOW|ZNF74|ENSG00000185252|domain:KRAB|ENST00000356671|protein_coding|5/6|c.247+19C>G||||||,G|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000356671|protein_coding|4/5|c.247+19C>G||||||,G|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000400451|protein_coding|3/4|c.247+19C>G||||||,G|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000403682|protein_coding|2/3|c.161+19C>G||||||,G|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000357502|protein_coding|3/4|c.263+19C>G||||||,G|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000493734|retained_intron|2/3|n.1358+19C>G||||||,G|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000420626|protein_coding|1/1|c.35-4600C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|4/5|n.*133+19C>G||||||,G|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000405993|protein_coding|3/3|c.247+19C>G||||||,G|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000476678|retained_intron|1/2|n.1267C>G|||||| 22 20755076 . C T . . ANN=T|sequence_feature|LOW|ZNF74|ENSG00000185252|domain:KRAB|ENST00000356671|protein_coding|4/6|c.247+28C>T||||||,T|sequence_feature|LOW|ZNF74|ENSG00000185252|domain:KRAB|ENST00000356671|protein_coding|5/6|c.247+28C>T||||||,T|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000356671|protein_coding|4/5|c.247+28C>T||||||,T|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000400451|protein_coding|3/4|c.247+28C>T||||||,T|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000403682|protein_coding|2/3|c.161+28C>T||||||,T|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000357502|protein_coding|3/4|c.263+28C>T||||||,T|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000493734|retained_intron|2/3|n.1358+28C>T||||||,T|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000420626|protein_coding|1/1|c.35-4591C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|4/5|n.*133+28C>T||||||,T|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000405993|protein_coding|3/3|c.247+28C>T||||||,T|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000476678|retained_intron|1/2|n.1276C>T|||||| 22 20755097 . T C . . ANN=C|sequence_feature|LOW|ZNF74|ENSG00000185252|domain:KRAB|ENST00000356671|protein_coding|4/6|c.247+49T>C||||||,C|sequence_feature|LOW|ZNF74|ENSG00000185252|domain:KRAB|ENST00000356671|protein_coding|5/6|c.247+49T>C||||||,C|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000356671|protein_coding|4/5|c.247+49T>C||||||,C|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000400451|protein_coding|3/4|c.247+49T>C||||||,C|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000403682|protein_coding|2/3|c.161+49T>C||||||,C|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000357502|protein_coding|3/4|c.263+49T>C||||||,C|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000493734|retained_intron|2/3|n.1358+49T>C||||||,C|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000420626|protein_coding|1/1|c.35-4570T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|4/5|n.*133+49T>C||||||,C|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000405993|protein_coding|3/3|c.247+49T>C||||||,C|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000476678|retained_intron|1/2|n.1297T>C|||||| 22 20755098 . A G . . ANN=G|sequence_feature|LOW|ZNF74|ENSG00000185252|domain:KRAB|ENST00000356671|protein_coding|4/6|c.247+50A>G||||||,G|sequence_feature|LOW|ZNF74|ENSG00000185252|domain:KRAB|ENST00000356671|protein_coding|5/6|c.247+50A>G||||||,G|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000356671|protein_coding|4/5|c.247+50A>G||||||,G|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000400451|protein_coding|3/4|c.247+50A>G||||||,G|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000403682|protein_coding|2/3|c.161+50A>G||||||,G|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000357502|protein_coding|3/4|c.263+50A>G||||||,G|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000493734|retained_intron|2/3|n.1358+50A>G||||||,G|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000420626|protein_coding|1/1|c.35-4569A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|4/5|n.*133+50A>G||||||,G|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000405993|protein_coding|3/3|c.247+50A>G||||||,G|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000476678|retained_intron|1/2|n.1298A>G|||||| 22 20755519 . G A . . ANN=A|sequence_feature|LOW|ZNF74|ENSG00000185252|domain:KRAB|ENST00000356671|protein_coding|4/6|c.248-48G>A||||||,A|sequence_feature|LOW|ZNF74|ENSG00000185252|domain:KRAB|ENST00000356671|protein_coding|5/6|c.248-48G>A||||||,A|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000356671|protein_coding|4/5|c.248-48G>A||||||,A|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000400451|protein_coding|3/4|c.248-48G>A||||||,A|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000403682|protein_coding|2/3|c.162-48G>A||||||,A|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000357502|protein_coding|3/4|c.264-48G>A||||||,A|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000493734|retained_intron|2/3|n.1359-48G>A||||||,A|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000420626|protein_coding|1/1|c.35-4148G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|4/5|n.*134-48G>A||||||,A|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000405993|protein_coding|3/3|c.247+471G>A||||||,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000476678|retained_intron|1/2|n.1719G>A|||||| 22 20755527 . G A . . ANN=A|sequence_feature|LOW|ZNF74|ENSG00000185252|domain:KRAB|ENST00000356671|protein_coding|4/6|c.248-40G>A||||||,A|sequence_feature|LOW|ZNF74|ENSG00000185252|domain:KRAB|ENST00000356671|protein_coding|5/6|c.248-40G>A||||||,A|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000356671|protein_coding|4/5|c.248-40G>A||||||,A|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000400451|protein_coding|3/4|c.248-40G>A||||||,A|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000403682|protein_coding|2/3|c.162-40G>A||||||,A|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000357502|protein_coding|3/4|c.264-40G>A||||||,A|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000493734|retained_intron|2/3|n.1359-40G>A||||||,A|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000420626|protein_coding|1/1|c.35-4140G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|4/5|n.*134-40G>A||||||,A|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000405993|protein_coding|3/3|c.247+479G>A||||||,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000476678|retained_intron|1/2|n.1727G>A|||||| 22 20755631 . G A . . ANN=A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000356671|protein_coding|5/6|c.312G>A|p.Met104Ile|524/2503|312/1935|104/644||,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000400451|protein_coding|4/5|c.312G>A|p.Met104Ile|826/3159|312/1935|104/644||,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000403682|protein_coding|3/4|c.226G>A|p.Ala76Thr|727/2789|226/537|76/178||,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000357502|protein_coding|4/5|c.328G>A|p.Ala110Thr|452/2788|328/639|110/212||,A|sequence_feature|LOW|ZNF74|ENSG00000185252|domain:KRAB|ENST00000356671|protein_coding|4/6|c.312G>A||||||,A|sequence_feature|LOW|ZNF74|ENSG00000185252|domain:KRAB|ENST00000356671|protein_coding|5/6|c.312G>A||||||,A|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|5/6|n.*198G>A|||||1657|,A|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000420626|protein_coding|1/1|c.35-4036G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000405993|protein_coding|3/3|c.247+583G>A||||||,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000493734|retained_intron|3/4|n.1423G>A||||||,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|5/6|n.*198G>A||||||,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000476678|retained_intron|1/2|n.1831G>A|||||| 22 20759620 . G A . . ANN=A|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000356671|protein_coding|5/5|c.344-47G>A||||||,A|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000400451|protein_coding|4/4|c.344-47G>A||||||,A|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000403682|protein_coding|3/3|c.258-47G>A||||||,A|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000357502|protein_coding|4/4|c.360-47G>A||||||,A|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000493734|retained_intron|3/3|n.1455-47G>A||||||,A|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000420626|protein_coding|1/1|c.35-47G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|5/5|n.*230-47G>A||||||,A|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000405993|protein_coding|3/3|c.248-47G>A||||||,A|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000476678|retained_intron|1/1|n.1863-47G>A|||||| 22 20759672 . G A . . ANN=A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000356671|protein_coding|6/6|c.349G>A|p.Glu117Lys|561/2503|349/1935|117/644||,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000400451|protein_coding|5/5|c.349G>A|p.Glu117Lys|863/3159|349/1935|117/644||,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000403682|protein_coding|4/4|c.263G>A|p.Gly88Glu|764/2789|263/537|88/178||,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000357502|protein_coding|5/5|c.365G>A|p.Gly122Glu|489/2788|365/639|122/212||,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000420626|protein_coding|2/2|c.40G>A|p.Glu14Lys|480/591|40/151|14/49||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000405993|protein_coding|4/4|c.253G>A|p.Glu85Lys|253/1839|253/1839|85/612||,A|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*235G>A|||||5698|,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000493734|retained_intron|4/4|n.1460G>A||||||,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*235G>A||||||,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000476678|retained_intron|2/2|n.1868G>A|||||| 22 20759804 . G A . . ANN=A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000356671|protein_coding|6/6|c.481G>A|p.Ala161Thr|693/2503|481/1935|161/644||,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000400451|protein_coding|5/5|c.481G>A|p.Ala161Thr|995/3159|481/1935|161/644||,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000403682|protein_coding|4/4|c.395G>A|p.Gly132Asp|896/2789|395/537|132/178||,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000357502|protein_coding|5/5|c.497G>A|p.Gly166Asp|621/2788|497/639|166/212||,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000405993|protein_coding|4/4|c.385G>A|p.Ala129Thr|385/1839|385/1839|129/612||,A|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*367G>A|||||5830|,A|downstream_gene_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000420626|protein_coding||c.*591G>A|||||21|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000493734|retained_intron|4/4|n.1592G>A||||||,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*367G>A||||||,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000476678|retained_intron|2/2|n.2000G>A|||||| 22 20759825 . C A . . ANN=A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000356671|protein_coding|6/6|c.502C>A|p.Pro168Thr|714/2503|502/1935|168/644||,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000400451|protein_coding|5/5|c.502C>A|p.Pro168Thr|1016/3159|502/1935|168/644||,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000403682|protein_coding|4/4|c.416C>A|p.Thr139Asn|917/2789|416/537|139/178||,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000357502|protein_coding|5/5|c.518C>A|p.Thr173Asn|642/2788|518/639|173/212||,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000405993|protein_coding|4/4|c.406C>A|p.Pro136Thr|406/1839|406/1839|136/612||,A|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*388C>A|||||5851|,A|downstream_gene_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000420626|protein_coding||c.*591C>A|||||42|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000493734|retained_intron|4/4|n.1613C>A||||||,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*388C>A||||||,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000476678|retained_intron|2/2|n.2021C>A|||||| 22 20759967 . C T . . ANN=T|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000356671|protein_coding|6/6|c.644C>T|p.Ala215Val|856/2503|644/1935|215/644||,T|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000400451|protein_coding|5/5|c.644C>T|p.Ala215Val|1158/3159|644/1935|215/644||,T|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000405993|protein_coding|4/4|c.548C>T|p.Ala183Val|548/1839|548/1839|183/612||,T|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000403682|protein_coding|4/4|c.*21C>T|||||21|,T|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000357502|protein_coding|5/5|c.*21C>T|||||21|,T|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*530C>T|||||5993|,T|downstream_gene_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000420626|protein_coding||c.*591C>T|||||184|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000493734|retained_intron|4/4|n.1755C>T||||||,T|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*530C>T||||||,T|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000476678|retained_intron|2/2|n.2163C>T|||||| 22 20760074 . G T . . ANN=T|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000356671|protein_coding|6/6|c.751G>T|p.Gly251Cys|963/2503|751/1935|251/644||,T|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000400451|protein_coding|5/5|c.751G>T|p.Gly251Cys|1265/3159|751/1935|251/644||,T|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000405993|protein_coding|4/4|c.655G>T|p.Gly219Cys|655/1839|655/1839|219/612||,T|sequence_feature|LOW|ZNF74|ENSG00000185252|zinc_finger_region:C2H2-type_1|ENST00000356671|protein_coding|6/6|c.751G>T||||||,T|sequence_feature|LOW|ZNF74|ENSG00000185252|zinc_finger_region:C2H2-type_1|ENST00000405993|protein_coding|4/4|c.655G>T||||||,T|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000403682|protein_coding|4/4|c.*128G>T|||||128|,T|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000357502|protein_coding|5/5|c.*128G>T|||||128|,T|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*637G>T|||||6100|,T|downstream_gene_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000420626|protein_coding||c.*591G>T|||||291|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000493734|retained_intron|4/4|n.1862G>T||||||,T|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*637G>T||||||,T|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000476678|retained_intron|2/2|n.2270G>T|||||| 22 20760106 . C T . . ANN=T|synonymous_variant|LOW|ZNF74|ENSG00000185252|transcript|ENST00000356671|protein_coding|6/6|c.783C>T|p.Ser261Ser|995/2503|783/1935|261/644||,T|synonymous_variant|LOW|ZNF74|ENSG00000185252|transcript|ENST00000400451|protein_coding|5/5|c.783C>T|p.Ser261Ser|1297/3159|783/1935|261/644||,T|synonymous_variant|LOW|ZNF74|ENSG00000185252|transcript|ENST00000405993|protein_coding|4/4|c.687C>T|p.Ser229Ser|687/1839|687/1839|229/612||,T|sequence_feature|LOW|ZNF74|ENSG00000185252|zinc_finger_region:C2H2-type_1|ENST00000356671|protein_coding|6/6|c.783C>T||||||,T|sequence_feature|LOW|ZNF74|ENSG00000185252|zinc_finger_region:C2H2-type_1|ENST00000405993|protein_coding|4/4|c.687C>T||||||,T|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000403682|protein_coding|4/4|c.*160C>T|||||160|,T|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000357502|protein_coding|5/5|c.*160C>T|||||160|,T|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*669C>T|||||6132|,T|downstream_gene_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000420626|protein_coding||c.*591C>T|||||323|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000493734|retained_intron|4/4|n.1894C>T||||||,T|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*669C>T||||||,T|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000476678|retained_intron|2/2|n.2302C>T|||||| 22 20760178 . C T . . ANN=T|synonymous_variant|LOW|ZNF74|ENSG00000185252|transcript|ENST00000356671|protein_coding|6/6|c.855C>T|p.Phe285Phe|1067/2503|855/1935|285/644||,T|synonymous_variant|LOW|ZNF74|ENSG00000185252|transcript|ENST00000400451|protein_coding|5/5|c.855C>T|p.Phe285Phe|1369/3159|855/1935|285/644||,T|synonymous_variant|LOW|ZNF74|ENSG00000185252|transcript|ENST00000405993|protein_coding|4/4|c.759C>T|p.Phe253Phe|759/1839|759/1839|253/612||,T|sequence_feature|LOW|ZNF74|ENSG00000185252|zinc_finger_region:C2H2-type_2|ENST00000356671|protein_coding|6/6|c.855C>T||||||,T|sequence_feature|LOW|ZNF74|ENSG00000185252|zinc_finger_region:C2H2-type_2|ENST00000405993|protein_coding|4/4|c.759C>T||||||,T|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000403682|protein_coding|4/4|c.*232C>T|||||232|,T|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000357502|protein_coding|5/5|c.*232C>T|||||232|,T|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*741C>T|||||6204|,T|downstream_gene_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000420626|protein_coding||c.*591C>T|||||395|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000493734|retained_intron|4/4|n.1966C>T||||||,T|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*741C>T||||||,T|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000476678|retained_intron|2/2|n.2374C>T|||||| 22 20760516 . C A . . ANN=A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000356671|protein_coding|6/6|c.1193C>A|p.Thr398Asn|1405/2503|1193/1935|398/644||,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000400451|protein_coding|5/5|c.1193C>A|p.Thr398Asn|1707/3159|1193/1935|398/644||,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000405993|protein_coding|4/4|c.1097C>A|p.Thr366Asn|1097/1839|1097/1839|366/612||,A|sequence_feature|LOW|ZNF74|ENSG00000185252|zinc_finger_region:C2H2-type_6|ENST00000356671|protein_coding|6/6|c.1193C>A||||||,A|sequence_feature|LOW|ZNF74|ENSG00000185252|zinc_finger_region:C2H2-type_6|ENST00000405993|protein_coding|4/4|c.1097C>A||||||,A|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000403682|protein_coding|4/4|c.*570C>A|||||570|,A|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000357502|protein_coding|5/5|c.*570C>A|||||570|,A|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*1079C>A|||||6542|,A|downstream_gene_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000420626|protein_coding||c.*591C>A|||||733|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000493734|retained_intron|4/4|n.2304C>A||||||,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*1079C>A||||||,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000476678|retained_intron|2/2|n.2712C>A|||||| 22 20760795 . G A . . ANN=A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000356671|protein_coding|6/6|c.1472G>A|p.Arg491Gln|1684/2503|1472/1935|491/644||,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000400451|protein_coding|5/5|c.1472G>A|p.Arg491Gln|1986/3159|1472/1935|491/644||,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000405993|protein_coding|4/4|c.1376G>A|p.Arg459Gln|1376/1839|1376/1839|459/612||,A|sequence_feature|LOW|ZNF74|ENSG00000185252|zinc_finger_region:C2H2-type_9|ENST00000356671|protein_coding|6/6|c.1472G>A||||||,A|sequence_feature|LOW|ZNF74|ENSG00000185252|zinc_finger_region:C2H2-type_9|ENST00000405993|protein_coding|4/4|c.1376G>A||||||,A|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000403682|protein_coding|4/4|c.*849G>A|||||849|,A|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000357502|protein_coding|5/5|c.*849G>A|||||849|,A|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*1358G>A|||||6821|,A|downstream_gene_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000420626|protein_coding||c.*591G>A|||||1012|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000493734|retained_intron|4/4|n.2583G>A||||||,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*1358G>A||||||,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000476678|retained_intron|2/2|n.2991G>A|||||| 22 20760977 . G A . . ANN=A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000356671|protein_coding|6/6|c.1654G>A|p.Gly552Arg|1866/2503|1654/1935|552/644||,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000400451|protein_coding|5/5|c.1654G>A|p.Gly552Arg|2168/3159|1654/1935|552/644||,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000405993|protein_coding|4/4|c.1558G>A|p.Gly520Arg|1558/1839|1558/1839|520/612||,A|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000403682|protein_coding|4/4|c.*1031G>A|||||1031|,A|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000357502|protein_coding|5/5|c.*1031G>A|||||1031|,A|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*1540G>A|||||7003|,A|downstream_gene_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000420626|protein_coding||c.*591G>A|||||1194|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000493734|retained_intron|4/4|n.2765G>A||||||,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*1540G>A||||||,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000476678|retained_intron|2/2|n.3173G>A|||||| 22 20761018 . C T . . ANN=T|synonymous_variant|LOW|ZNF74|ENSG00000185252|transcript|ENST00000356671|protein_coding|6/6|c.1695C>T|p.Phe565Phe|1907/2503|1695/1935|565/644||,T|synonymous_variant|LOW|ZNF74|ENSG00000185252|transcript|ENST00000400451|protein_coding|5/5|c.1695C>T|p.Phe565Phe|2209/3159|1695/1935|565/644||,T|synonymous_variant|LOW|ZNF74|ENSG00000185252|transcript|ENST00000405993|protein_coding|4/4|c.1599C>T|p.Phe533Phe|1599/1839|1599/1839|533/612||,T|sequence_feature|LOW|ZNF74|ENSG00000185252|zinc_finger_region:C2H2-type_12|ENST00000356671|protein_coding|6/6|c.1695C>T||||||,T|sequence_feature|LOW|ZNF74|ENSG00000185252|zinc_finger_region:C2H2-type_12|ENST00000405993|protein_coding|4/4|c.1599C>T||||||,T|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000403682|protein_coding|4/4|c.*1072C>T|||||1072|,T|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000357502|protein_coding|5/5|c.*1072C>T|||||1072|,T|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*1581C>T|||||7044|,T|downstream_gene_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000420626|protein_coding||c.*591C>T|||||1235|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000493734|retained_intron|4/4|n.2806C>T||||||,T|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*1581C>T||||||,T|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000476678|retained_intron|2/2|n.3214C>T|||||| 22 20761028 . T C . . ANN=C|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000356671|protein_coding|6/6|c.1705T>C|p.Ser569Pro|1917/2503|1705/1935|569/644||,C|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000400451|protein_coding|5/5|c.1705T>C|p.Ser569Pro|2219/3159|1705/1935|569/644||,C|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000405993|protein_coding|4/4|c.1609T>C|p.Ser537Pro|1609/1839|1609/1839|537/612||,C|sequence_feature|LOW|ZNF74|ENSG00000185252|zinc_finger_region:C2H2-type_12|ENST00000356671|protein_coding|6/6|c.1705T>C||||||,C|sequence_feature|LOW|ZNF74|ENSG00000185252|zinc_finger_region:C2H2-type_12|ENST00000405993|protein_coding|4/4|c.1609T>C||||||,C|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000403682|protein_coding|4/4|c.*1082T>C|||||1082|,C|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000357502|protein_coding|5/5|c.*1082T>C|||||1082|,C|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*1591T>C|||||7054|,C|downstream_gene_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000420626|protein_coding||c.*591T>C|||||1245|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000493734|retained_intron|4/4|n.2816T>C||||||,C|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*1591T>C||||||,C|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000476678|retained_intron|2/2|n.3224T>C|||||| 22 20761033 . C A . . ANN=A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000356671|protein_coding|6/6|c.1710C>A|p.His570Gln|1922/2503|1710/1935|570/644||,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000400451|protein_coding|5/5|c.1710C>A|p.His570Gln|2224/3159|1710/1935|570/644||,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000405993|protein_coding|4/4|c.1614C>A|p.His538Gln|1614/1839|1614/1839|538/612||,A|sequence_feature|LOW|ZNF74|ENSG00000185252|zinc_finger_region:C2H2-type_12|ENST00000356671|protein_coding|6/6|c.1710C>A||||||,A|sequence_feature|LOW|ZNF74|ENSG00000185252|zinc_finger_region:C2H2-type_12|ENST00000405993|protein_coding|4/4|c.1614C>A||||||,A|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000403682|protein_coding|4/4|c.*1087C>A|||||1087|,A|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000357502|protein_coding|5/5|c.*1087C>A|||||1087|,A|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*1596C>A|||||7059|,A|downstream_gene_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000420626|protein_coding||c.*591C>A|||||1250|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000493734|retained_intron|4/4|n.2821C>A||||||,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*1596C>A||||||,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000476678|retained_intron|2/2|n.3229C>A|||||| 22 20761052 . C G . . ANN=G|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000356671|protein_coding|6/6|c.1729C>G|p.Leu577Val|1941/2503|1729/1935|577/644||,G|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000400451|protein_coding|5/5|c.1729C>G|p.Leu577Val|2243/3159|1729/1935|577/644||,G|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000405993|protein_coding|4/4|c.1633C>G|p.Leu545Val|1633/1839|1633/1839|545/612||,G|sequence_feature|LOW|ZNF74|ENSG00000185252|zinc_finger_region:C2H2-type_12|ENST00000356671|protein_coding|6/6|c.1729C>G||||||,G|sequence_feature|LOW|ZNF74|ENSG00000185252|zinc_finger_region:C2H2-type_12|ENST00000405993|protein_coding|4/4|c.1633C>G||||||,G|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000403682|protein_coding|4/4|c.*1106C>G|||||1106|,G|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000357502|protein_coding|5/5|c.*1106C>G|||||1106|,G|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*1615C>G|||||7078|,G|downstream_gene_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000420626|protein_coding||c.*591C>G|||||1269|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000493734|retained_intron|4/4|n.2840C>G||||||,G|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*1615C>G||||||,G|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000476678|retained_intron|2/2|n.3248C>G|||||| 22 20761063 . G A . . ANN=A|synonymous_variant|LOW|ZNF74|ENSG00000185252|transcript|ENST00000356671|protein_coding|6/6|c.1740G>A|p.Glu580Glu|1952/2503|1740/1935|580/644||,A|synonymous_variant|LOW|ZNF74|ENSG00000185252|transcript|ENST00000400451|protein_coding|5/5|c.1740G>A|p.Glu580Glu|2254/3159|1740/1935|580/644||,A|synonymous_variant|LOW|ZNF74|ENSG00000185252|transcript|ENST00000405993|protein_coding|4/4|c.1644G>A|p.Glu548Glu|1644/1839|1644/1839|548/612||,A|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000403682|protein_coding|4/4|c.*1117G>A|||||1117|,A|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000357502|protein_coding|5/5|c.*1117G>A|||||1117|,A|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*1626G>A|||||7089|,A|downstream_gene_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000420626|protein_coding||c.*591G>A|||||1280|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000493734|retained_intron|4/4|n.2851G>A||||||,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*1626G>A||||||,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000476678|retained_intron|2/2|n.3259G>A|||||| 22 20761079 . A G . . ANN=G|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000356671|protein_coding|6/6|c.1756A>G|p.Ile586Val|1968/2503|1756/1935|586/644||,G|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000400451|protein_coding|5/5|c.1756A>G|p.Ile586Val|2270/3159|1756/1935|586/644||,G|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000405993|protein_coding|4/4|c.1660A>G|p.Ile554Val|1660/1839|1660/1839|554/612||,G|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000403682|protein_coding|4/4|c.*1133A>G|||||1133|,G|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000357502|protein_coding|5/5|c.*1133A>G|||||1133|,G|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*1642A>G|||||7105|,G|downstream_gene_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000420626|protein_coding||c.*591A>G|||||1296|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000493734|retained_intron|4/4|n.2867A>G||||||,G|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*1642A>G||||||,G|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000476678|retained_intron|2/2|n.3275A>G|||||| 22 20761099 . G C . . ANN=C|synonymous_variant|LOW|ZNF74|ENSG00000185252|transcript|ENST00000356671|protein_coding|6/6|c.1776G>C|p.Leu592Leu|1988/2503|1776/1935|592/644||,C|synonymous_variant|LOW|ZNF74|ENSG00000185252|transcript|ENST00000400451|protein_coding|5/5|c.1776G>C|p.Leu592Leu|2290/3159|1776/1935|592/644||,C|synonymous_variant|LOW|ZNF74|ENSG00000185252|transcript|ENST00000405993|protein_coding|4/4|c.1680G>C|p.Leu560Leu|1680/1839|1680/1839|560/612||,C|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000403682|protein_coding|4/4|c.*1153G>C|||||1153|,C|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000357502|protein_coding|5/5|c.*1153G>C|||||1153|,C|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*1662G>C|||||7125|,C|downstream_gene_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000420626|protein_coding||c.*591G>C|||||1316|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000493734|retained_intron|4/4|n.2887G>C||||||,C|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*1662G>C||||||,C|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000476678|retained_intron|2/2|n.3295G>C|||||| 22 20761111 . C T . . ANN=T|synonymous_variant|LOW|ZNF74|ENSG00000185252|transcript|ENST00000356671|protein_coding|6/6|c.1788C>T|p.Tyr596Tyr|2000/2503|1788/1935|596/644||,T|synonymous_variant|LOW|ZNF74|ENSG00000185252|transcript|ENST00000400451|protein_coding|5/5|c.1788C>T|p.Tyr596Tyr|2302/3159|1788/1935|596/644||,T|synonymous_variant|LOW|ZNF74|ENSG00000185252|transcript|ENST00000405993|protein_coding|4/4|c.1692C>T|p.Tyr564Tyr|1692/1839|1692/1839|564/612||,T|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000403682|protein_coding|4/4|c.*1165C>T|||||1165|,T|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000357502|protein_coding|5/5|c.*1165C>T|||||1165|,T|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*1674C>T|||||7137|,T|downstream_gene_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000420626|protein_coding||c.*591C>T|||||1328|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000493734|retained_intron|4/4|n.2899C>T||||||,T|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*1674C>T||||||,T|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000476678|retained_intron|2/2|n.3307C>T|||||| 22 20761112 . T A . . ANN=A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000356671|protein_coding|6/6|c.1789T>A|p.Tyr597Asn|2001/2503|1789/1935|597/644||,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000400451|protein_coding|5/5|c.1789T>A|p.Tyr597Asn|2303/3159|1789/1935|597/644||,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000405993|protein_coding|4/4|c.1693T>A|p.Tyr565Asn|1693/1839|1693/1839|565/612||,A|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000403682|protein_coding|4/4|c.*1166T>A|||||1166|,A|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000357502|protein_coding|5/5|c.*1166T>A|||||1166|,A|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*1675T>A|||||7138|,A|downstream_gene_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000420626|protein_coding||c.*591T>A|||||1329|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000493734|retained_intron|4/4|n.2900T>A||||||,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*1675T>A||||||,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000476678|retained_intron|2/2|n.3308T>A|||||| 22 20761192 . G T . . ANN=T|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000356671|protein_coding|6/6|c.1869G>T|p.Lys623Asn|2081/2503|1869/1935|623/644||,T|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000400451|protein_coding|5/5|c.1869G>T|p.Lys623Asn|2383/3159|1869/1935|623/644||,T|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000405993|protein_coding|4/4|c.1773G>T|p.Lys591Asn|1773/1839|1773/1839|591/612||,T|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000403682|protein_coding|4/4|c.*1246G>T|||||1246|,T|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000357502|protein_coding|5/5|c.*1246G>T|||||1246|,T|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*1755G>T|||||7218|,T|downstream_gene_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000420626|protein_coding||c.*591G>T|||||1409|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000493734|retained_intron|4/4|n.2980G>T||||||,T|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*1755G>T||||||,T|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000476678|retained_intron|2/2|n.3388G>T|||||| 22 20761193 . C T . . ANN=T|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000356671|protein_coding|6/6|c.1870C>T|p.Leu624Phe|2082/2503|1870/1935|624/644||,T|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000400451|protein_coding|5/5|c.1870C>T|p.Leu624Phe|2384/3159|1870/1935|624/644||,T|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000405993|protein_coding|4/4|c.1774C>T|p.Leu592Phe|1774/1839|1774/1839|592/612||,T|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000403682|protein_coding|4/4|c.*1247C>T|||||1247|,T|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000357502|protein_coding|5/5|c.*1247C>T|||||1247|,T|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*1756C>T|||||7219|,T|downstream_gene_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000420626|protein_coding||c.*591C>T|||||1410|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000493734|retained_intron|4/4|n.2981C>T||||||,T|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*1756C>T||||||,T|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000476678|retained_intron|2/2|n.3389C>T|||||| 22 20779768 . G C . . ANN=C|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|11/11|c.2510C>G|p.Ala837Gly|2615/3278|2510/2613|837/870||,C|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|11/11|c.2495C>G|p.Ala832Gly|2566/3460|2495/2598|832/865||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|9/11|c.2510C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|10/11|c.2510C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|11/11|c.2510C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|8/11|c.2510C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|compositionally_biased_region:Pro-rich|ENST00000266214|protein_coding|11/11|c.2510C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|compositionally_biased_region:Pro-rich|ENST00000405555|protein_coding|11/11|c.2495C>G||||||,C|downstream_gene_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000494535|retained_intron||n.*780C>G|||||606|,C|downstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay||n.*196C>G|||||3760| 22 20779822 . G C . . ANN=C|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|11/11|c.2456C>G|p.Ala819Gly|2561/3278|2456/2613|819/870||,C|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|11/11|c.2441C>G|p.Ala814Gly|2512/3460|2441/2598|814/865||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|9/11|c.2456C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|10/11|c.2456C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|11/11|c.2456C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|8/11|c.2456C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|compositionally_biased_region:Pro-rich|ENST00000266214|protein_coding|11/11|c.2456C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|compositionally_biased_region:Pro-rich|ENST00000405555|protein_coding|11/11|c.2441C>G||||||,C|downstream_gene_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000494535|retained_intron||n.*780C>G|||||552|,C|downstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay||n.*196C>G|||||3706| 22 20779892 . C T . . ANN=T|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|11/11|c.2386G>A|p.Gly796Ser|2491/3278|2386/2613|796/870||,T|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|11/11|c.2371G>A|p.Gly791Ser|2442/3460|2371/2598|791/865||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|9/11|c.2386G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|10/11|c.2386G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|11/11|c.2386G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|8/11|c.2386G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|compositionally_biased_region:Pro-rich|ENST00000266214|protein_coding|11/11|c.2386G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|compositionally_biased_region:Pro-rich|ENST00000405555|protein_coding|11/11|c.2371G>A||||||,T|downstream_gene_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000494535|retained_intron||n.*780G>A|||||482|,T|downstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay||n.*196G>A|||||3636| 22 20779947 . G C . . ANN=C|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|11/11|c.2331C>G|p.Asp777Glu|2436/3278|2331/2613|777/870||,C|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|11/11|c.2316C>G|p.Asp772Glu|2387/3460|2316/2598|772/865||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|9/11|c.2331C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|10/11|c.2331C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|11/11|c.2331C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|8/11|c.2331C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|compositionally_biased_region:Pro-rich|ENST00000266214|protein_coding|11/11|c.2331C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|compositionally_biased_region:Pro-rich|ENST00000405555|protein_coding|11/11|c.2316C>G||||||,C|downstream_gene_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000494535|retained_intron||n.*780C>G|||||427|,C|downstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay||n.*196C>G|||||3581| 22 20779973 . C CG . . ANN=G|frameshift_variant|HIGH|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|11/11|c.2304dupC|p.Glu769fs|2409/3278|2304/2613|768/870||,G|frameshift_variant|HIGH|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|11/11|c.2289dupC|p.Glu764fs|2360/3460|2289/2598|763/865||,G|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|9/11|c.2304dupC||||||,G|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|10/11|c.2304dupC||||||,G|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|11/11|c.2304dupC||||||,G|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|8/11|c.2304dupC||||||,G|sequence_feature|LOW|SCARF2|ENSG00000244486|compositionally_biased_region:Pro-rich|ENST00000266214|protein_coding|11/11|c.2304dupC||||||,G|sequence_feature|LOW|SCARF2|ENSG00000244486|compositionally_biased_region:Pro-rich|ENST00000405555|protein_coding|11/11|c.2289dupC||||||,G|downstream_gene_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000494535|retained_intron||n.*780dupC|||||400|,G|downstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay||n.*196dupC|||||3554|;LOF=(SCARF2|ENSG00000244486|3|0.67) 22 20780026 . GC G . . ANN=|frameshift_variant|HIGH|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|11/11|c.2251delG|p.Ala751fs|2356/3278|2251/2613|751/870||,|frameshift_variant|HIGH|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|11/11|c.2236delG|p.Ala746fs|2307/3460|2236/2598|746/865||,|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|9/11|c.2251delG||||||,|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|10/11|c.2251delG||||||,|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|11/11|c.2251delG||||||,|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|8/11|c.2251delG||||||,|sequence_feature|LOW|SCARF2|ENSG00000244486|compositionally_biased_region:Pro-rich|ENST00000266214|protein_coding|11/11|c.2251delG||||||,|sequence_feature|LOW|SCARF2|ENSG00000244486|compositionally_biased_region:Pro-rich|ENST00000405555|protein_coding|11/11|c.2236delG||||||,|downstream_gene_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000494535|retained_intron||n.*780delG|||||347|,|downstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay||n.*196delG|||||3501|;LOF=(SCARF2|ENSG00000244486|3|0.67) 22 20780029 . G C . . ANN=C|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|11/11|c.2249C>G|p.Ala750Gly|2354/3278|2249/2613|750/870||,C|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|11/11|c.2234C>G|p.Ala745Gly|2305/3460|2234/2598|745/865||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|9/11|c.2249C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|10/11|c.2249C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|11/11|c.2249C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|8/11|c.2249C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|compositionally_biased_region:Pro-rich|ENST00000266214|protein_coding|11/11|c.2249C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|compositionally_biased_region:Pro-rich|ENST00000405555|protein_coding|11/11|c.2234C>G||||||,C|downstream_gene_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000494535|retained_intron||n.*780C>G|||||345|,C|downstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay||n.*196C>G|||||3499| 22 20780031 . G C . . ANN=C|synonymous_variant|LOW|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|11/11|c.2247C>G|p.Arg749Arg|2352/3278|2247/2613|749/870||,C|synonymous_variant|LOW|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|11/11|c.2232C>G|p.Arg744Arg|2303/3460|2232/2598|744/865||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|9/11|c.2247C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|10/11|c.2247C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|11/11|c.2247C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|8/11|c.2247C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|compositionally_biased_region:Pro-rich|ENST00000266214|protein_coding|11/11|c.2247C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|compositionally_biased_region:Pro-rich|ENST00000405555|protein_coding|11/11|c.2232C>G||||||,C|downstream_gene_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000494535|retained_intron||n.*780C>G|||||343|,C|downstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay||n.*196C>G|||||3497| 22 20780091 . C G . . ANN=G|synonymous_variant|LOW|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|11/11|c.2187G>C|p.Pro729Pro|2292/3278|2187/2613|729/870||,G|synonymous_variant|LOW|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|11/11|c.2172G>C|p.Pro724Pro|2243/3460|2172/2598|724/865||,G|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|9/11|c.2187G>C||||||,G|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|10/11|c.2187G>C||||||,G|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|11/11|c.2187G>C||||||,G|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|8/11|c.2187G>C||||||,G|sequence_feature|LOW|SCARF2|ENSG00000244486|compositionally_biased_region:Pro-rich|ENST00000266214|protein_coding|11/11|c.2187G>C||||||,G|sequence_feature|LOW|SCARF2|ENSG00000244486|compositionally_biased_region:Pro-rich|ENST00000405555|protein_coding|11/11|c.2172G>C||||||,G|downstream_gene_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000494535|retained_intron||n.*780G>C|||||283|,G|downstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay||n.*196G>C|||||3437| 22 20780097 . G C . . ANN=C|synonymous_variant|LOW|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|11/11|c.2181C>G|p.Arg727Arg|2286/3278|2181/2613|727/870||,C|synonymous_variant|LOW|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|11/11|c.2166C>G|p.Arg722Arg|2237/3460|2166/2598|722/865||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|9/11|c.2181C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|10/11|c.2181C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|11/11|c.2181C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|8/11|c.2181C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|compositionally_biased_region:Pro-rich|ENST00000266214|protein_coding|11/11|c.2181C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|compositionally_biased_region:Pro-rich|ENST00000405555|protein_coding|11/11|c.2166C>G||||||,C|downstream_gene_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000494535|retained_intron||n.*780C>G|||||277|,C|downstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay||n.*196C>G|||||3431| 22 20780296 . G A . . ANN=A|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|11/11|c.1982C>T|p.Pro661Leu|2087/3278|1982/2613|661/870||,A|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|11/11|c.1967C>T|p.Pro656Leu|2038/3460|1967/2598|656/865||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|9/11|c.1982C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|10/11|c.1982C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|11/11|c.1982C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|8/11|c.1982C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|compositionally_biased_region:Pro-rich|ENST00000266214|protein_coding|11/11|c.1982C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|compositionally_biased_region:Pro-rich|ENST00000405555|protein_coding|11/11|c.1967C>T||||||,A|downstream_gene_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000494535|retained_intron||n.*780C>T|||||78|,A|downstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay||n.*196C>T|||||3232| 22 20780316 . G A . . ANN=A|synonymous_variant|LOW|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|11/11|c.1962C>T|p.Pro654Pro|2067/3278|1962/2613|654/870||,A|synonymous_variant|LOW|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|11/11|c.1947C>T|p.Pro649Pro|2018/3460|1947/2598|649/865||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|9/11|c.1962C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|10/11|c.1962C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|11/11|c.1962C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|8/11|c.1962C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|compositionally_biased_region:Pro-rich|ENST00000266214|protein_coding|11/11|c.1962C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|compositionally_biased_region:Pro-rich|ENST00000405555|protein_coding|11/11|c.1947C>T||||||,A|downstream_gene_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000494535|retained_intron||n.*780C>T|||||58|,A|downstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay||n.*196C>T|||||3212| 22 20780474 . C T . . ANN=T|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|11/11|c.1804G>A|p.Glu602Lys|1909/3278|1804/2613|602/870||,T|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|11/11|c.1789G>A|p.Glu597Lys|1860/3460|1789/2598|597/865||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|9/11|c.1804G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|10/11|c.1804G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|11/11|c.1804G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|8/11|c.1804G>A||||||,T|downstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay||n.*196G>A|||||3054|,T|non_coding_exon_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000494535|retained_intron|5/5|n.680G>A|||||| 22 20781670 . T C . . ANN=C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|9/11|c.1708+15A>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|10/11|c.1708+15A>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|11/11|c.1708+15A>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|8/11|c.1708+15A>G||||||,C|downstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay||n.*196A>G|||||1858|,C|intron_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|10/10|c.1708+15A>G||||||,C|intron_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|10/10|c.1693+15A>G||||||,C|intron_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000494535|retained_intron|4/4|n.584+15A>G|||||| 22 20781725 . G A . . ANN=A|synonymous_variant|LOW|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|10/11|c.1668C>T|p.Asp556Asp|1773/3278|1668/2613|556/870||,A|synonymous_variant|LOW|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|10/11|c.1653C>T|p.Asp551Asp|1724/3460|1653/2598|551/865||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|9/11|c.1668C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|10/11|c.1668C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|11/11|c.1668C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|8/11|c.1668C>T||||||,A|downstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay||n.*196C>T|||||1803|,A|non_coding_exon_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000494535|retained_intron|4/5|n.544C>T|||||| 22 20781732 . G A . . ANN=A|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|10/11|c.1661C>T|p.Ser554Leu|1766/3278|1661/2613|554/870||,A|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|10/11|c.1646C>T|p.Ser549Leu|1717/3460|1646/2598|549/865||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|9/11|c.1661C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|10/11|c.1661C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|11/11|c.1661C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|8/11|c.1661C>T||||||,A|downstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay||n.*196C>T|||||1796|,A|non_coding_exon_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000494535|retained_intron|4/5|n.537C>T|||||| 22 20781827 . G A . . ANN=A|synonymous_variant|LOW|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|10/11|c.1566C>T|p.His522His|1671/3278|1566/2613|522/870||,A|synonymous_variant|LOW|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|10/11|c.1551C>T|p.His517His|1622/3460|1551/2598|517/865||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|9/11|c.1566C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|10/11|c.1566C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|11/11|c.1566C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|8/11|c.1566C>T||||||,A|downstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay||n.*196C>T|||||1701|,A|non_coding_exon_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000494535|retained_intron|4/5|n.442C>T|||||| 22 20781869 . T C . . ANN=C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|9/11|c.1556-32A>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|10/11|c.1556-32A>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|11/11|c.1556-32A>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|8/11|c.1556-32A>G||||||,C|downstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay||n.*196A>G|||||1659|,C|intron_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|9/10|c.1556-32A>G||||||,C|intron_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|9/10|c.1541-32A>G||||||,C|intron_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000494535|retained_intron|3/4|n.432-32A>G|||||| 22 20781872 . A T . . ANN=T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|9/11|c.1556-35T>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|10/11|c.1556-35T>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|11/11|c.1556-35T>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|8/11|c.1556-35T>A||||||,T|downstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay||n.*196T>A|||||1656|,T|intron_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|9/10|c.1556-35T>A||||||,T|intron_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|9/10|c.1541-35T>A||||||,T|intron_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000494535|retained_intron|3/4|n.432-35T>A|||||| 22 20781886 . G A . . ANN=A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|9/11|c.1556-49C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|10/11|c.1556-49C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|11/11|c.1556-49C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|8/11|c.1556-49C>T||||||,A|downstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay||n.*196C>T|||||1642|,A|intron_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|9/10|c.1556-49C>T||||||,A|intron_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|9/10|c.1541-49C>T||||||,A|intron_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000494535|retained_intron|3/4|n.432-49C>T|||||| 22 20783485 . C A . . ANN=A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|9/11|c.1555+27G>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|10/11|c.1555+27G>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|11/11|c.1555+27G>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|8/11|c.1555+27G>T||||||,A|downstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay||n.*196G>T|||||43|,A|intron_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|9/10|c.1555+27G>T||||||,A|intron_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|9/10|c.1540+27G>T||||||,A|intron_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000494535|retained_intron|3/4|n.431+27G>T|||||| 22 20783575 . T C . . ANN=C|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|9/11|c.1492A>G|p.Ser498Gly|1597/3278|1492/2613|498/870||,C|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|9/11|c.1477A>G|p.Ser493Gly|1548/3460|1477/2598|493/865||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|9/11|c.1492A>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|10/11|c.1492A>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|11/11|c.1492A>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|8/11|c.1492A>G||||||,C|3_prime_UTR_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay|5/5|n.*401A>G|||||1252|,C|non_coding_exon_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000494535|retained_intron|3/5|n.368A>G||||||,C|non_coding_exon_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay|5/5|n.*401A>G|||||| 22 20783692 . G C . . ANN=C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|9/11|c.1425-50C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|10/11|c.1425-50C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|11/11|c.1425-50C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|8/11|c.1425-50C>G||||||,C|intron_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|8/10|c.1425-50C>G||||||,C|intron_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|8/10|c.1425-65C>G||||||,C|intron_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000494535|retained_intron|2/4|n.316-65C>G||||||,C|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay|4/4|n.*334-50C>G|||||| 22 20783783 . G C . . ANN=C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|9/11|c.1424+40C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|10/11|c.1424+40C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|11/11|c.1424+40C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|8/11|c.1424+40C>G||||||,C|intron_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|8/10|c.1424+40C>G||||||,C|intron_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|8/10|c.1424+40C>G||||||,C|intron_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000494535|retained_intron|2/4|n.315+40C>G||||||,C|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay|4/4|n.*333+40C>G|||||| 22 20783815 . G C . . ANN=C|splice_region_variant&intron_variant|LOW|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|8/10|c.1424+8C>G||||||,C|splice_region_variant&intron_variant|LOW|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|8/10|c.1424+8C>G||||||,C|splice_region_variant&intron_variant|LOW|SCARF2|ENSG00000244486|transcript|ENST00000494535|retained_intron|2/4|n.315+8C>G||||||,C|splice_region_variant&intron_variant|LOW|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay|4/4|n.*333+8C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|9/11|c.1424+8C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|10/11|c.1424+8C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|11/11|c.1424+8C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|8/11|c.1424+8C>G|||||| 22 20783834 . G A . . ANN=A|synonymous_variant|LOW|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|8/11|c.1413C>T|p.Asp471Asp|1518/3278|1413/2613|471/870||,A|synonymous_variant|LOW|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|8/11|c.1413C>T|p.Asp471Asp|1484/3460|1413/2598|471/865||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|9/11|c.1413C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|10/11|c.1413C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|11/11|c.1413C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|8/11|c.1413C>T||||||,A|3_prime_UTR_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay|4/5|n.*322C>T|||||993|,A|non_coding_exon_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000494535|retained_intron|2/5|n.304C>T||||||,A|non_coding_exon_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay|4/5|n.*322C>T|||||| 22 20783960 . C T . . ANN=T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|5/11|c.1307-20G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|6/11|c.1307-20G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|7/11|c.1307-20G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|2/11|c.1307-20G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|8/11|c.1307-20G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|3/11|c.1307-20G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|4/11|c.1307-20G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|1/11|c.1307-20G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|5/11|c.1307-20G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|6/11|c.1307-20G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|7/11|c.1307-20G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|2/11|c.1307-20G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|8/11|c.1307-20G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|3/11|c.1307-20G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|4/11|c.1307-20G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|1/11|c.1307-20G>A||||||,T|intron_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|7/10|c.1307-20G>A||||||,T|intron_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|7/10|c.1307-20G>A||||||,T|intron_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000494535|retained_intron|1/4|n.198-20G>A||||||,T|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay|3/4|n.*216-20G>A|||||| 22 20783986 . T C . . ANN=C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|5/11|c.1306+31A>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|6/11|c.1306+31A>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|7/11|c.1306+31A>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|2/11|c.1306+31A>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|8/11|c.1306+31A>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|3/11|c.1306+31A>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|4/11|c.1306+31A>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|1/11|c.1306+31A>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|5/11|c.1306+31A>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|6/11|c.1306+31A>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|7/11|c.1306+31A>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|2/11|c.1306+31A>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|8/11|c.1306+31A>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|3/11|c.1306+31A>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|4/11|c.1306+31A>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|1/11|c.1306+31A>G||||||,C|intron_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|7/10|c.1306+31A>G||||||,C|intron_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|7/10|c.1306+31A>G||||||,C|intron_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000494535|retained_intron|1/4|n.197+31A>G||||||,C|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay|3/4|n.*215+31A>G|||||| 22 20784050 . T A . . ANN=A|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|7/11|c.1273A>T|p.Thr425Ser|1378/3278|1273/2613|425/870||,A|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|7/11|c.1273A>T|p.Thr425Ser|1344/3460|1273/2598|425/865||,A|TF_binding_site_variant|LOW|||Max|MA0058.1|||||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|5/11|c.1273A>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|6/11|c.1273A>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|7/11|c.1273A>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|2/11|c.1273A>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|8/11|c.1273A>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|3/11|c.1273A>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|4/11|c.1273A>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|1/11|c.1273A>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|5/11|c.1273A>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|6/11|c.1273A>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|7/11|c.1273A>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|2/11|c.1273A>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|8/11|c.1273A>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|3/11|c.1273A>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|4/11|c.1273A>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|1/11|c.1273A>T||||||,A|3_prime_UTR_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay|3/5|n.*182A>T|||||777|,A|TF_binding_site_variant|MODIFIER|||Cmyc|MA0147.1|||||||||,A|non_coding_exon_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000494535|retained_intron|1/5|n.164A>T||||||,A|non_coding_exon_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay|3/5|n.*182A>T|||||| 22 20784152 . G A . . ANN=A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|5/11|c.1203-32C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|6/11|c.1203-32C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|7/11|c.1203-32C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|2/11|c.1203-32C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|8/11|c.1203-32C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|3/11|c.1203-32C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|4/11|c.1203-32C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|1/11|c.1203-32C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|domain:EGF-like_7|ENST00000266214|protein_coding|6/11|c.1203-32C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|domain:EGF-like_7|ENST00000266214|protein_coding|7/11|c.1203-32C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|disulfide_bond|ENST00000266214|protein_coding|6/11|c.1203-32C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|disulfide_bond|ENST00000266214|protein_coding|7/11|c.1203-32C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|5/11|c.1203-32C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|6/11|c.1203-32C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|7/11|c.1203-32C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|2/11|c.1203-32C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|8/11|c.1203-32C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|3/11|c.1203-32C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|4/11|c.1203-32C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|1/11|c.1203-32C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|domain:EGF-like_7|ENST00000405555|protein_coding|6/11|c.1203-32C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|domain:EGF-like_7|ENST00000405555|protein_coding|7/11|c.1203-32C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|disulfide_bond|ENST00000405555|protein_coding|6/11|c.1203-32C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|disulfide_bond|ENST00000405555|protein_coding|7/11|c.1203-32C>T||||||,A|intron_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|6/10|c.1203-32C>T||||||,A|intron_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|6/10|c.1203-32C>T||||||,A|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay|2/4|n.*112-32C>T||||||,A|non_coding_exon_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000494535|retained_intron|1/5|n.62C>T|||||| 22 20784168 . GC G . . ANN=|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|5/11|c.1203-49delG||||||,|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|6/11|c.1203-49delG||||||,|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|7/11|c.1203-49delG||||||,|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|2/11|c.1203-49delG||||||,|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|8/11|c.1203-49delG||||||,|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|3/11|c.1203-49delG||||||,|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|4/11|c.1203-49delG||||||,|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|1/11|c.1203-49delG||||||,|sequence_feature|LOW|SCARF2|ENSG00000244486|domain:EGF-like_7|ENST00000266214|protein_coding|6/11|c.1203-49delG||||||,|sequence_feature|LOW|SCARF2|ENSG00000244486|domain:EGF-like_7|ENST00000266214|protein_coding|7/11|c.1203-49delG||||||,|sequence_feature|LOW|SCARF2|ENSG00000244486|disulfide_bond|ENST00000266214|protein_coding|6/11|c.1203-49delG||||||,|sequence_feature|LOW|SCARF2|ENSG00000244486|disulfide_bond|ENST00000266214|protein_coding|7/11|c.1203-49delG||||||,|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|5/11|c.1203-49delG||||||,|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|6/11|c.1203-49delG||||||,|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|7/11|c.1203-49delG||||||,|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|2/11|c.1203-49delG||||||,|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|8/11|c.1203-49delG||||||,|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|3/11|c.1203-49delG||||||,|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|4/11|c.1203-49delG||||||,|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|1/11|c.1203-49delG||||||,|sequence_feature|LOW|SCARF2|ENSG00000244486|domain:EGF-like_7|ENST00000405555|protein_coding|6/11|c.1203-49delG||||||,|sequence_feature|LOW|SCARF2|ENSG00000244486|domain:EGF-like_7|ENST00000405555|protein_coding|7/11|c.1203-49delG||||||,|sequence_feature|LOW|SCARF2|ENSG00000244486|disulfide_bond|ENST00000405555|protein_coding|6/11|c.1203-49delG||||||,|sequence_feature|LOW|SCARF2|ENSG00000244486|disulfide_bond|ENST00000405555|protein_coding|7/11|c.1203-49delG||||||,|intron_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|6/10|c.1203-49delG||||||,|intron_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|6/10|c.1203-49delG||||||,|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay|2/4|n.*112-49delG||||||,|non_coding_exon_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000494535|retained_intron|1/5|n.45delG|||||| 22 20784797 . A G . . ANN=G|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|6/11|c.1121T>C|p.Phe374Ser|1226/3278|1121/2613|374/870||,G|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|6/11|c.1121T>C|p.Phe374Ser|1192/3460|1121/2598|374/865||,G|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|5/11|c.1121T>C||||||,G|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|6/11|c.1121T>C||||||,G|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|7/11|c.1121T>C||||||,G|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|2/11|c.1121T>C||||||,G|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|8/11|c.1121T>C||||||,G|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|3/11|c.1121T>C||||||,G|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|4/11|c.1121T>C||||||,G|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|1/11|c.1121T>C||||||,G|sequence_feature|LOW|SCARF2|ENSG00000244486|domain:EGF-like_7|ENST00000266214|protein_coding|6/11|c.1121T>C||||||,G|sequence_feature|LOW|SCARF2|ENSG00000244486|domain:EGF-like_7|ENST00000266214|protein_coding|7/11|c.1121T>C||||||,G|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|5/11|c.1121T>C||||||,G|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|6/11|c.1121T>C||||||,G|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|7/11|c.1121T>C||||||,G|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|2/11|c.1121T>C||||||,G|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|8/11|c.1121T>C||||||,G|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|3/11|c.1121T>C||||||,G|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|4/11|c.1121T>C||||||,G|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|1/11|c.1121T>C||||||,G|sequence_feature|LOW|SCARF2|ENSG00000244486|domain:EGF-like_7|ENST00000405555|protein_coding|6/11|c.1121T>C||||||,G|sequence_feature|LOW|SCARF2|ENSG00000244486|domain:EGF-like_7|ENST00000405555|protein_coding|7/11|c.1121T>C||||||,G|3_prime_UTR_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay|2/5|n.*30T>C|||||30|,G|upstream_gene_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000494535|retained_intron||n.-1T>C|||||584|,G|non_coding_exon_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay|2/5|n.*30T>C|||||| 22 20784865 . C T . . ANN=T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|5/11|c.1074-21G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|6/11|c.1074-21G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|7/11|c.1074-21G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|2/11|c.1074-21G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|8/11|c.1074-21G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|3/11|c.1074-21G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|4/11|c.1074-21G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|1/11|c.1074-21G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|5/11|c.1074-21G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|6/11|c.1074-21G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|7/11|c.1074-21G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|2/11|c.1074-21G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|8/11|c.1074-21G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|3/11|c.1074-21G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|4/11|c.1074-21G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|1/11|c.1074-21G>A||||||,T|upstream_gene_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000494535|retained_intron||n.-1G>A|||||652|,T|intron_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|5/10|c.1074-21G>A||||||,T|intron_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|5/10|c.1074-21G>A||||||,T|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay|1/4|n.178-21G>A|||||| 22 20784892 . C T . . ANN=T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|5/11|c.1074-48G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|6/11|c.1074-48G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|7/11|c.1074-48G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|2/11|c.1074-48G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|8/11|c.1074-48G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|3/11|c.1074-48G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|4/11|c.1074-48G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|1/11|c.1074-48G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|5/11|c.1074-48G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|6/11|c.1074-48G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|7/11|c.1074-48G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|2/11|c.1074-48G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|8/11|c.1074-48G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|3/11|c.1074-48G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|4/11|c.1074-48G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|1/11|c.1074-48G>A||||||,T|upstream_gene_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000494535|retained_intron||n.-1G>A|||||679|,T|intron_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|5/10|c.1074-48G>A||||||,T|intron_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|5/10|c.1074-48G>A||||||,T|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay|1/4|n.178-48G>A|||||| 22 20785078 . G T . . ANN=T|synonymous_variant|LOW|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|5/11|c.972C>A|p.Gly324Gly|1077/3278|972/2613|324/870||,T|synonymous_variant|LOW|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|5/11|c.972C>A|p.Gly324Gly|1043/3460|972/2598|324/865||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|5/11|c.972C>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|6/11|c.972C>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|7/11|c.972C>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|2/11|c.972C>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|8/11|c.972C>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|3/11|c.972C>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|4/11|c.972C>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|1/11|c.972C>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|5/11|c.972C>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|6/11|c.972C>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|7/11|c.972C>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|2/11|c.972C>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|8/11|c.972C>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|3/11|c.972C>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|4/11|c.972C>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|1/11|c.972C>A||||||,T|upstream_gene_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000494535|retained_intron||n.-1C>A|||||865|,T|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay|1/4|n.178-234C>A|||||| 22 20785257 . G C . . ANN=C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|5/11|c.854+48C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|6/11|c.854+48C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|7/11|c.854+48C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|2/11|c.854+48C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|8/11|c.854+48C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|3/11|c.854+48C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|4/11|c.854+48C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|1/11|c.854+48C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|5/11|c.854+48C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|6/11|c.854+48C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|7/11|c.854+48C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|2/11|c.854+48C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|8/11|c.854+48C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|3/11|c.854+48C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|4/11|c.854+48C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|1/11|c.854+48C>G||||||,C|upstream_gene_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000494535|retained_intron||n.-1C>G|||||1044|,C|intron_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|4/10|c.854+48C>G||||||,C|intron_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|4/10|c.854+48C>G||||||,C|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay|1/4|n.178-413C>G|||||| 22 20785533 . C T . . ANN=T|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|4/11|c.626G>A|p.Arg209His|731/3278|626/2613|209/870||,T|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|4/11|c.626G>A|p.Arg209His|697/3460|626/2598|209/865||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|5/11|c.626G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|6/11|c.626G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|7/11|c.626G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|2/11|c.626G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|8/11|c.626G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|3/11|c.626G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|4/11|c.626G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|1/11|c.626G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|domain:EGF-like_4|ENST00000266214|protein_coding|4/11|c.626G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|disulfide_bond|ENST00000266214|protein_coding|4/11|c.626G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|5/11|c.626G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|6/11|c.626G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|7/11|c.626G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|2/11|c.626G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|8/11|c.626G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|3/11|c.626G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|4/11|c.626G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|1/11|c.626G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|domain:EGF-like_4|ENST00000405555|protein_coding|4/11|c.626G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|disulfide_bond|ENST00000405555|protein_coding|4/11|c.626G>A||||||,T|upstream_gene_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000494535|retained_intron||n.-1G>A|||||1320|,T|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay|1/4|n.178-689G>A|||||| 22 20785639 . G A . . ANN=A|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|4/11|c.520C>T|p.Pro174Ser|625/3278|520/2613|174/870||,A|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|4/11|c.520C>T|p.Pro174Ser|591/3460|520/2598|174/865||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|5/11|c.520C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|6/11|c.520C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|7/11|c.520C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|2/11|c.520C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|8/11|c.520C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|3/11|c.520C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|4/11|c.520C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|1/11|c.520C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|domain:EGF-like_3|ENST00000266214|protein_coding|4/11|c.520C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|disulfide_bond|ENST00000266214|protein_coding|4/11|c.520C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|5/11|c.520C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|6/11|c.520C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|7/11|c.520C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|2/11|c.520C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|8/11|c.520C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|3/11|c.520C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|4/11|c.520C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|1/11|c.520C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|domain:EGF-like_3|ENST00000405555|protein_coding|4/11|c.520C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|disulfide_bond|ENST00000405555|protein_coding|4/11|c.520C>T||||||,A|upstream_gene_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000494535|retained_intron||n.-1C>T|||||1426|,A|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay|1/4|n.178-795C>T|||||| 22 20786033 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|3/11|c.333C>T|p.Thr111Thr|438/3278|333/2613|111/870||,A|splice_region_variant&synonymous_variant|LOW|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|3/11|c.333C>T|p.Thr111Thr|404/3460|333/2598|111/865||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|5/11|c.333C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|6/11|c.333C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|7/11|c.333C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|2/11|c.333C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|8/11|c.333C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|3/11|c.333C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|4/11|c.333C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|1/11|c.333C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|5/11|c.333C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|6/11|c.333C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|7/11|c.333C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|2/11|c.333C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|8/11|c.333C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|3/11|c.333C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|4/11|c.333C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|1/11|c.333C>T||||||,A|upstream_gene_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000494535|retained_intron||n.-1C>T|||||1820|,A|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay|1/4|n.178-1189C>T|||||| 22 20786125 . C T . . ANN=T|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|3/11|c.241G>A|p.Glu81Lys|346/3278|241/2613|81/870||,T|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|3/11|c.241G>A|p.Glu81Lys|312/3460|241/2598|81/865||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|5/11|c.241G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|6/11|c.241G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|7/11|c.241G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|2/11|c.241G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|8/11|c.241G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|3/11|c.241G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|4/11|c.241G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|1/11|c.241G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|domain:EGF-like_1|ENST00000266214|protein_coding|2/11|c.241G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|domain:EGF-like_1|ENST00000266214|protein_coding|3/11|c.241G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|disulfide_bond|ENST00000266214|protein_coding|3/11|c.241G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|disulfide_bond|ENST00000266214|protein_coding|2/11|c.241G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|5/11|c.241G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|6/11|c.241G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|7/11|c.241G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|2/11|c.241G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|8/11|c.241G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|3/11|c.241G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|4/11|c.241G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|1/11|c.241G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|domain:EGF-like_1|ENST00000405555|protein_coding|2/11|c.241G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|domain:EGF-like_1|ENST00000405555|protein_coding|3/11|c.241G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|disulfide_bond|ENST00000405555|protein_coding|3/11|c.241G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|disulfide_bond|ENST00000405555|protein_coding|2/11|c.241G>A||||||,T|upstream_gene_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000494535|retained_intron||n.-1G>A|||||1912|,T|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay|1/4|n.178-1281G>A|||||| 22 20786126 . G A . . ANN=A|synonymous_variant|LOW|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|3/11|c.240C>T|p.Cys80Cys|345/3278|240/2613|80/870||,A|synonymous_variant|LOW|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|3/11|c.240C>T|p.Cys80Cys|311/3460|240/2598|80/865||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|5/11|c.240C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|6/11|c.240C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|7/11|c.240C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|2/11|c.240C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|8/11|c.240C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|3/11|c.240C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|4/11|c.240C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|1/11|c.240C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|domain:EGF-like_1|ENST00000266214|protein_coding|2/11|c.240C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|domain:EGF-like_1|ENST00000266214|protein_coding|3/11|c.240C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|disulfide_bond|ENST00000266214|protein_coding|3/11|c.240C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|disulfide_bond|ENST00000266214|protein_coding|2/11|c.240C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|5/11|c.240C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|6/11|c.240C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|7/11|c.240C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|2/11|c.240C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|8/11|c.240C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|3/11|c.240C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|4/11|c.240C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|1/11|c.240C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|domain:EGF-like_1|ENST00000405555|protein_coding|2/11|c.240C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|domain:EGF-like_1|ENST00000405555|protein_coding|3/11|c.240C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|disulfide_bond|ENST00000405555|protein_coding|3/11|c.240C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|disulfide_bond|ENST00000405555|protein_coding|2/11|c.240C>T||||||,A|upstream_gene_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000494535|retained_intron||n.-1C>T|||||1913|,A|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay|1/4|n.178-1282C>T|||||| 22 20786271 . G C . . ANN=C|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|2/11|c.178C>G|p.Gln60Glu|283/3278|178/2613|60/870||,C|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|2/11|c.178C>G|p.Gln60Glu|249/3460|178/2598|60/865||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|5/11|c.178C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|6/11|c.178C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|7/11|c.178C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|2/11|c.178C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|8/11|c.178C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|3/11|c.178C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|4/11|c.178C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|1/11|c.178C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|5/11|c.178C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|6/11|c.178C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|7/11|c.178C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|2/11|c.178C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|8/11|c.178C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|3/11|c.178C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|4/11|c.178C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|1/11|c.178C>G||||||,C|upstream_gene_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000494535|retained_intron||n.-1C>G|||||2058|,C|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay|1/4|n.178-1427C>G|||||| 22 20791821 . G A . . ANN=A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|5/11|c.173+48C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|6/11|c.173+48C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|7/11|c.173+48C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|2/11|c.173+48C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|8/11|c.173+48C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|3/11|c.173+48C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|4/11|c.173+48C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|1/11|c.173+48C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|5/11|c.173+48C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|6/11|c.173+48C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|7/11|c.173+48C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|2/11|c.173+48C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|8/11|c.173+48C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|3/11|c.173+48C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|4/11|c.173+48C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|1/11|c.173+48C>T||||||,A|downstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000328879|protein_coding||c.*2062C>T|||||3985|,A|downstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000440659|protein_coding||c.*1808C>T|||||4127|,A|intron_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|1/10|c.173+48C>T||||||,A|intron_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|1/10|c.173+48C>T||||||,A|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay|1/4|n.178-6977C>T|||||| 22 20791966 . G A . . ANN=A|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|1/11|c.76C>T|p.Pro26Ser|181/3278|76/2613|26/870||,A|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|1/11|c.76C>T|p.Pro26Ser|147/3460|76/2598|26/865||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|signal_peptide|ENST00000266214|protein_coding|1/11|c.76C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|signal_peptide|ENST00000405555|protein_coding|1/11|c.76C>T||||||,A|downstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000328879|protein_coding||c.*2062C>T|||||3840|,A|downstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000440659|protein_coding||c.*1808C>T|||||3982|,A|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay|1/4|n.178-7122C>T|||||| 22 20796444 . G A . . ANN=A|synonymous_variant|LOW|KLHL22|ENSG00000099910|transcript|ENST00000328879|protein_coding|7/7|c.1821C>T|p.Asp607Asp|1978/2616|1821/1905|607/634||,A|synonymous_variant|LOW|KLHL22|ENSG00000099910|transcript|ENST00000440659|protein_coding|6/6|c.1392C>T|p.Asp464Asp|1724/2220|1392/1476|464/491||,A|upstream_gene_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding||c.-106C>T|||||4298|,A|upstream_gene_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding||c.-72C>T|||||4332|,A|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay|1/4|n.177+4286C>T|||||| 22 20796458 . G A . . ANN=A|missense_variant|MODERATE|KLHL22|ENSG00000099910|transcript|ENST00000328879|protein_coding|7/7|c.1807C>T|p.Arg603Cys|1964/2616|1807/1905|603/634||,A|missense_variant|MODERATE|KLHL22|ENSG00000099910|transcript|ENST00000440659|protein_coding|6/6|c.1378C>T|p.Arg460Cys|1710/2220|1378/1476|460/491||,A|upstream_gene_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding||c.-106C>T|||||4312|,A|upstream_gene_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding||c.-72C>T|||||4346|,A|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay|1/4|n.177+4272C>T|||||| 22 20796567 . G A . . ANN=A|synonymous_variant|LOW|KLHL22|ENSG00000099910|transcript|ENST00000328879|protein_coding|7/7|c.1698C>T|p.Tyr566Tyr|1855/2616|1698/1905|566/634||,A|synonymous_variant|LOW|KLHL22|ENSG00000099910|transcript|ENST00000440659|protein_coding|6/6|c.1269C>T|p.Tyr423Tyr|1601/2220|1269/1476|423/491||,A|sequence_feature|LOW|KLHL22|ENSG00000099910|repeat:Kelch_6|ENST00000328879|protein_coding|7/7|c.1698C>T||||||,A|upstream_gene_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding||c.-106C>T|||||4421|,A|upstream_gene_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding||c.-72C>T|||||4455|,A|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay|1/4|n.177+4163C>T|||||| 22 20796597 . G A . . ANN=A|synonymous_variant|LOW|KLHL22|ENSG00000099910|transcript|ENST00000328879|protein_coding|7/7|c.1668C>T|p.Arg556Arg|1825/2616|1668/1905|556/634||,A|synonymous_variant|LOW|KLHL22|ENSG00000099910|transcript|ENST00000440659|protein_coding|6/6|c.1239C>T|p.Arg413Arg|1571/2220|1239/1476|413/491||,A|sequence_feature|LOW|KLHL22|ENSG00000099910|repeat:Kelch_6|ENST00000328879|protein_coding|7/7|c.1668C>T||||||,A|upstream_gene_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding||c.-106C>T|||||4451|,A|upstream_gene_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding||c.-72C>T|||||4485|,A|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay|1/4|n.177+4133C>T|||||| 22 20796615 . A T . . ANN=T|synonymous_variant|LOW|KLHL22|ENSG00000099910|transcript|ENST00000328879|protein_coding|7/7|c.1650T>A|p.Gly550Gly|1807/2616|1650/1905|550/634||,T|synonymous_variant|LOW|KLHL22|ENSG00000099910|transcript|ENST00000440659|protein_coding|6/6|c.1221T>A|p.Gly407Gly|1553/2220|1221/1476|407/491||,T|sequence_feature|LOW|KLHL22|ENSG00000099910|repeat:Kelch_6|ENST00000328879|protein_coding|7/7|c.1650T>A||||||,T|upstream_gene_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding||c.-106T>A|||||4469|,T|upstream_gene_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding||c.-72T>A|||||4503|,T|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay|1/4|n.177+4115T>A|||||| 22 20796662 . C T . . ANN=T|missense_variant|MODERATE|KLHL22|ENSG00000099910|transcript|ENST00000328879|protein_coding|7/7|c.1603G>A|p.Gly535Ser|1760/2616|1603/1905|535/634||,T|missense_variant|MODERATE|KLHL22|ENSG00000099910|transcript|ENST00000440659|protein_coding|6/6|c.1174G>A|p.Gly392Ser|1506/2220|1174/1476|392/491||,T|sequence_feature|LOW|KLHL22|ENSG00000099910|repeat:Kelch_5|ENST00000328879|protein_coding|6/7|c.1603G>A||||||,T|sequence_feature|LOW|KLHL22|ENSG00000099910|repeat:Kelch_5|ENST00000328879|protein_coding|7/7|c.1603G>A||||||,T|upstream_gene_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding||c.-106G>A|||||4516|,T|upstream_gene_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding||c.-72G>A|||||4550|,T|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay|1/4|n.177+4068G>A|||||| 22 20796729 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|KLHL22|ENSG00000099910|transcript|ENST00000328879|protein_coding|6/6|c.1540-4G>A||||||,T|splice_region_variant&intron_variant|LOW|KLHL22|ENSG00000099910|transcript|ENST00000440659|protein_coding|5/5|c.1111-4G>A||||||,T|sequence_feature|LOW|KLHL22|ENSG00000099910|repeat:Kelch_5|ENST00000328879|protein_coding|6/7|c.1540-4G>A||||||,T|sequence_feature|LOW|KLHL22|ENSG00000099910|repeat:Kelch_5|ENST00000328879|protein_coding|7/7|c.1540-4G>A||||||,T|upstream_gene_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding||c.-106G>A|||||4583|,T|upstream_gene_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding||c.-72G>A|||||4617|,T|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay|1/4|n.177+4001G>A|||||| 22 20796769 . G A . . ANN=A|sequence_feature|LOW|KLHL22|ENSG00000099910|repeat:Kelch_5|ENST00000328879|protein_coding|6/7|c.1540-44C>T||||||,A|sequence_feature|LOW|KLHL22|ENSG00000099910|repeat:Kelch_5|ENST00000328879|protein_coding|7/7|c.1540-44C>T||||||,A|upstream_gene_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding||c.-106C>T|||||4623|,A|upstream_gene_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding||c.-72C>T|||||4657|,A|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000328879|protein_coding|6/6|c.1540-44C>T||||||,A|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay|1/4|n.177+3961C>T||||||,A|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000440659|protein_coding|5/5|c.1111-44C>T|||||| 22 20800701 . G A . . ANN=A|sequence_feature|LOW|KLHL22|ENSG00000099910|repeat:Kelch_5|ENST00000328879|protein_coding|6/7|c.1539+29C>T||||||,A|sequence_feature|LOW|KLHL22|ENSG00000099910|repeat:Kelch_5|ENST00000328879|protein_coding|7/7|c.1539+29C>T||||||,A|upstream_gene_variant|MODIFIER|XXbac-B562F10.11|ENSG00000215493|transcript|ENST00000426448|processed_pseudogene||n.-1G>A|||||3708|,A|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000328879|protein_coding|6/6|c.1539+29C>T||||||,A|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay|1/4|n.177+29C>T||||||,A|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000440659|protein_coding|5/5|c.1110+29C>T|||||| 22 20800738 . C T . . ANN=T|missense_variant|MODERATE|KLHL22|ENSG00000099910|transcript|ENST00000328879|protein_coding|6/7|c.1531G>A|p.Val511Met|1688/2616|1531/1905|511/634||,T|missense_variant|MODERATE|KLHL22|ENSG00000099910|transcript|ENST00000440659|protein_coding|5/6|c.1102G>A|p.Val368Met|1434/2220|1102/1476|368/491||,T|sequence_feature|LOW|KLHL22|ENSG00000099910|repeat:Kelch_5|ENST00000328879|protein_coding|6/7|c.1531G>A||||||,T|sequence_feature|LOW|KLHL22|ENSG00000099910|repeat:Kelch_5|ENST00000328879|protein_coding|7/7|c.1531G>A||||||,T|upstream_gene_variant|MODIFIER|XXbac-B562F10.11|ENSG00000215493|transcript|ENST00000426448|processed_pseudogene||n.-1C>T|||||3671|,T|non_coding_exon_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay|1/5|n.169G>A|||||| 22 20800781 . A G . . ANN=G|synonymous_variant|LOW|KLHL22|ENSG00000099910|transcript|ENST00000328879|protein_coding|6/7|c.1488T>C|p.Tyr496Tyr|1645/2616|1488/1905|496/634||,G|synonymous_variant|LOW|KLHL22|ENSG00000099910|transcript|ENST00000440659|protein_coding|5/6|c.1059T>C|p.Tyr353Tyr|1391/2220|1059/1476|353/491||,G|sequence_feature|LOW|KLHL22|ENSG00000099910|repeat:Kelch_5|ENST00000328879|protein_coding|6/7|c.1488T>C||||||,G|sequence_feature|LOW|KLHL22|ENSG00000099910|repeat:Kelch_5|ENST00000328879|protein_coding|7/7|c.1488T>C||||||,G|upstream_gene_variant|MODIFIER|XXbac-B562F10.11|ENSG00000215493|transcript|ENST00000426448|processed_pseudogene||n.-1A>G|||||3628|,G|non_coding_exon_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay|1/5|n.126T>C|||||| 22 20800835 . A G . . ANN=G|synonymous_variant|LOW|KLHL22|ENSG00000099910|transcript|ENST00000328879|protein_coding|6/7|c.1434T>C|p.Asp478Asp|1591/2616|1434/1905|478/634||,G|synonymous_variant|LOW|KLHL22|ENSG00000099910|transcript|ENST00000440659|protein_coding|5/6|c.1005T>C|p.Asp335Asp|1337/2220|1005/1476|335/491||,G|sequence_feature|LOW|KLHL22|ENSG00000099910|repeat:Kelch_4|ENST00000328879|protein_coding|6/7|c.1434T>C||||||,G|upstream_gene_variant|MODIFIER|XXbac-B562F10.11|ENSG00000215493|transcript|ENST00000426448|processed_pseudogene||n.-1A>G|||||3574|,G|non_coding_exon_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay|1/5|n.72T>C|||||| 22 20800848 . T C . . ANN=C|missense_variant|MODERATE|KLHL22|ENSG00000099910|transcript|ENST00000328879|protein_coding|6/7|c.1421A>G|p.His474Arg|1578/2616|1421/1905|474/634||,C|missense_variant|MODERATE|KLHL22|ENSG00000099910|transcript|ENST00000440659|protein_coding|5/6|c.992A>G|p.His331Arg|1324/2220|992/1476|331/491||,C|sequence_feature|LOW|KLHL22|ENSG00000099910|repeat:Kelch_4|ENST00000328879|protein_coding|6/7|c.1421A>G||||||,C|upstream_gene_variant|MODIFIER|XXbac-B562F10.11|ENSG00000215493|transcript|ENST00000426448|processed_pseudogene||n.-1T>C|||||3561|,C|non_coding_exon_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay|1/5|n.59A>G|||||| 22 20800913 . G A . . ANN=A|synonymous_variant|LOW|KLHL22|ENSG00000099910|transcript|ENST00000328879|protein_coding|6/7|c.1356C>T|p.Cys452Cys|1513/2616|1356/1905|452/634||,A|synonymous_variant|LOW|KLHL22|ENSG00000099910|transcript|ENST00000440659|protein_coding|5/6|c.927C>T|p.Cys309Cys|1259/2220|927/1476|309/491||,A|sequence_feature|LOW|KLHL22|ENSG00000099910|repeat:Kelch_4|ENST00000328879|protein_coding|6/7|c.1356C>T||||||,A|upstream_gene_variant|MODIFIER|XXbac-B562F10.11|ENSG00000215493|transcript|ENST00000426448|processed_pseudogene||n.-1G>A|||||3496|,A|upstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay||n.-2C>T|||||6| 22 20800941 . G A . . ANN=A|missense_variant|MODERATE|KLHL22|ENSG00000099910|transcript|ENST00000328879|protein_coding|6/7|c.1328C>T|p.Thr443Met|1485/2616|1328/1905|443/634||,A|missense_variant|MODERATE|KLHL22|ENSG00000099910|transcript|ENST00000440659|protein_coding|5/6|c.899C>T|p.Thr300Met|1231/2220|899/1476|300/491||,A|sequence_feature|LOW|KLHL22|ENSG00000099910|repeat:Kelch_3|ENST00000328879|protein_coding|6/7|c.1328C>T||||||,A|sequence_feature|LOW|KLHL22|ENSG00000099910|repeat:Kelch_3|ENST00000328879|protein_coding|5/7|c.1328C>T||||||,A|upstream_gene_variant|MODIFIER|XXbac-B562F10.11|ENSG00000215493|transcript|ENST00000426448|processed_pseudogene||n.-1G>A|||||3468|,A|upstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay||n.-2C>T|||||34| 22 20800983 . G A . . ANN=A|sequence_feature|LOW|KLHL22|ENSG00000099910|repeat:Kelch_3|ENST00000328879|protein_coding|6/7|c.1306-20C>T||||||,A|sequence_feature|LOW|KLHL22|ENSG00000099910|repeat:Kelch_3|ENST00000328879|protein_coding|5/7|c.1306-20C>T||||||,A|upstream_gene_variant|MODIFIER|XXbac-B562F10.11|ENSG00000215493|transcript|ENST00000426448|processed_pseudogene||n.-1G>A|||||3426|,A|upstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay||n.-2C>T|||||76|,A|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000328879|protein_coding|5/6|c.1306-20C>T||||||,A|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000440659|protein_coding|4/5|c.877-20C>T|||||| 22 20812116 . G A . . ANN=A|synonymous_variant|LOW|KLHL22|ENSG00000099910|transcript|ENST00000328879|protein_coding|5/7|c.1284C>T|p.Tyr428Tyr|1441/2616|1284/1905|428/634||,A|synonymous_variant|LOW|KLHL22|ENSG00000099910|transcript|ENST00000440659|protein_coding|4/6|c.855C>T|p.Tyr285Tyr|1187/2220|855/1476|285/491||,A|sequence_feature|LOW|KLHL22|ENSG00000099910|repeat:Kelch_3|ENST00000328879|protein_coding|6/7|c.1284C>T||||||,A|sequence_feature|LOW|KLHL22|ENSG00000099910|repeat:Kelch_3|ENST00000328879|protein_coding|5/7|c.1284C>T||||||,A|non_coding_exon_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000487090|processed_transcript|2/3|n.325C>T||||||,A|non_coding_exon_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000479601|retained_intron|5/5|n.1350C>T|||||| 22 20819327 . C T . . ANN=T|synonymous_variant|LOW|KLHL22|ENSG00000099910|transcript|ENST00000328879|protein_coding|4/7|c.930G>A|p.Pro310Pro|1087/2616|930/1905|310/634||,T|synonymous_variant|LOW|KLHL22|ENSG00000099910|transcript|ENST00000440659|protein_coding|3/6|c.501G>A|p.Pro167Pro|833/2220|501/1476|167/491||,T|sequence_feature|LOW|KLHL22|ENSG00000099910|repeat:Kelch_1|ENST00000328879|protein_coding|4/7|c.930G>A||||||,T|downstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000451553|protein_coding||c.*724G>A|||||22|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000444967|protein_coding||c.*1045G>A|||||140|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000458248|protein_coding||c.*742G>A|||||225|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000443285|protein_coding||c.*792G>A|||||277|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000494929|processed_transcript||n.*550G>A|||||352|,T|downstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000431430|protein_coding||c.*572G>A|||||502|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000487090|processed_transcript|1/2|n.153+294G>A||||||,T|non_coding_exon_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000479601|retained_intron|4/5|n.996G>A|||||| 22 20819372 . C T . . ANN=T|synonymous_variant|LOW|KLHL22|ENSG00000099910|transcript|ENST00000328879|protein_coding|4/7|c.885G>A|p.Ser295Ser|1042/2616|885/1905|295/634||,T|synonymous_variant|LOW|KLHL22|ENSG00000099910|transcript|ENST00000440659|protein_coding|3/6|c.456G>A|p.Ser152Ser|788/2220|456/1476|152/491||,T|synonymous_variant|LOW|KLHL22|ENSG00000099910|transcript|ENST00000451553|protein_coding|3/3|c.654G>A|p.Ser218Ser|701/724|654/677|218/224||WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000444967|protein_coding||c.*1045G>A|||||95|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000458248|protein_coding||c.*742G>A|||||180|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000443285|protein_coding||c.*792G>A|||||232|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000494929|processed_transcript||n.*550G>A|||||307|,T|downstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000431430|protein_coding||c.*572G>A|||||457|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000487090|processed_transcript|1/2|n.153+249G>A||||||,T|non_coding_exon_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000479601|retained_intron|4/5|n.951G>A|||||| 22 20819567 . G A . . ANN=A|synonymous_variant|LOW|KLHL22|ENSG00000099910|transcript|ENST00000328879|protein_coding|4/7|c.690C>T|p.Asp230Asp|847/2616|690/1905|230/634||,A|synonymous_variant|LOW|KLHL22|ENSG00000099910|transcript|ENST00000440659|protein_coding|3/6|c.261C>T|p.Asp87Asp|593/2220|261/1476|87/491||,A|synonymous_variant|LOW|KLHL22|ENSG00000099910|transcript|ENST00000451553|protein_coding|3/3|c.459C>T|p.Asp153Asp|506/724|459/677|153/224||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|KLHL22|ENSG00000099910|transcript|ENST00000444967|protein_coding|6/6|c.786C>T|p.Asp262Asp|945/1045|786/886|262/294||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|KLHL22|ENSG00000099910|transcript|ENST00000458248|protein_coding|4/4|c.690C>T|p.Asp230Asp|727/742|690/705|230/234||WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000443285|protein_coding||c.*792C>T|||||37|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000494929|processed_transcript||n.*550C>T|||||112|,A|downstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000431430|protein_coding||c.*572C>T|||||262|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000487090|processed_transcript|1/2|n.153+54C>T||||||,A|non_coding_exon_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000479601|retained_intron|4/5|n.756C>T|||||| 22 20819577 . A G . . ANN=G|missense_variant|MODERATE|KLHL22|ENSG00000099910|transcript|ENST00000328879|protein_coding|4/7|c.680T>C|p.Val227Ala|837/2616|680/1905|227/634||,G|missense_variant|MODERATE|KLHL22|ENSG00000099910|transcript|ENST00000440659|protein_coding|3/6|c.251T>C|p.Val84Ala|583/2220|251/1476|84/491||,G|missense_variant|MODERATE|KLHL22|ENSG00000099910|transcript|ENST00000451553|protein_coding|3/3|c.449T>C|p.Val150Ala|496/724|449/677|150/224||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|KLHL22|ENSG00000099910|transcript|ENST00000444967|protein_coding|6/6|c.776T>C|p.Val259Ala|935/1045|776/886|259/294||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|KLHL22|ENSG00000099910|transcript|ENST00000458248|protein_coding|4/4|c.680T>C|p.Val227Ala|717/742|680/705|227/234||WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000443285|protein_coding||c.*792T>C|||||27|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000494929|processed_transcript||n.*550T>C|||||102|,G|downstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000431430|protein_coding||c.*572T>C|||||252|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000487090|processed_transcript|1/2|n.153+44T>C||||||,G|non_coding_exon_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000479601|retained_intron|4/5|n.746T>C|||||| 22 20825697 . G A . . ANN=A|synonymous_variant|LOW|KLHL22|ENSG00000099910|transcript|ENST00000328879|protein_coding|3/7|c.333C>T|p.Ser111Ser|490/2616|333/1905|111/634||,A|synonymous_variant|LOW|KLHL22|ENSG00000099910|transcript|ENST00000451553|protein_coding|2/3|c.102C>T|p.Ser34Ser|149/724|102/677|34/224||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|KLHL22|ENSG00000099910|transcript|ENST00000444967|protein_coding|5/6|c.429C>T|p.Ser143Ser|588/1045|429/886|143/294||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|KLHL22|ENSG00000099910|transcript|ENST00000458248|protein_coding|3/4|c.333C>T|p.Ser111Ser|370/742|333/705|111/234||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|KLHL22|ENSG00000099910|transcript|ENST00000443285|protein_coding|4/5|c.435C>T|p.Ser145Ser|472/792|435/755|145/250||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|KLHL22|ENSG00000099910|transcript|ENST00000431430|protein_coding|3/4|c.333C>T|p.Ser111Ser|430/572|333/475|111/157||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|KLHL22|ENSG00000099910|domain:BTB|ENST00000328879|protein_coding|2/7|c.333C>T||||||,A|sequence_feature|LOW|KLHL22|ENSG00000099910|domain:BTB|ENST00000328879|protein_coding|3/7|c.333C>T||||||,A|downstream_gene_variant|MODIFIER|KLHL22-IT1|ENSG00000255156|transcript|ENST00000532431|misc_RNA||n.*109C>T|||||3793|,A|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000440659|protein_coding|2/5|c.-36-5834C>T||||||,A|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000494929|processed_transcript|2/2|n.319-5787C>T||||||,A|non_coding_exon_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000479601|retained_intron|3/5|n.399C>T|||||| 22 20843232 . C T . . ANN=T|sequence_feature|LOW|KLHL22|ENSG00000099910|domain:BTB|ENST00000328879|protein_coding|2/7|c.227+40G>A||||||,T|sequence_feature|LOW|KLHL22|ENSG00000099910|domain:BTB|ENST00000328879|protein_coding|3/7|c.227+40G>A||||||,T|upstream_gene_variant|MODIFIER|KRT18P5|ENSG00000236670|transcript|ENST00000436075|processed_pseudogene||n.-1G>A|||||4840|,T|downstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000423364|protein_coding||c.*769G>A|||||40|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000328879|protein_coding|2/6|c.227+40G>A||||||,T|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000440659|protein_coding|2/5|c.-37+40G>A||||||,T|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000479601|retained_intron|2/4|n.293+40G>A||||||,T|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000451553|protein_coding|1/2|c.-5+6815G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000444967|protein_coding|4/5|c.323+40G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000458248|protein_coding|2/3|c.227+40G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000443285|protein_coding|3/4|c.329+40G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000494929|processed_transcript|2/2|n.318+40G>A||||||,T|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000431430|protein_coding|2/3|c.227+40G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000470335|processed_transcript|2/2|n.345+40G>A||||||,T|non_coding_exon_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000490556|processed_transcript|2/2|n.294G>A|||||| 22 20843315 . C G . . ANN=G|missense_variant|MODERATE|KLHL22|ENSG00000099910|transcript|ENST00000328879|protein_coding|2/7|c.184G>C|p.Glu62Gln|341/2616|184/1905|62/634||,G|missense_variant|MODERATE|KLHL22|ENSG00000099910|transcript|ENST00000444967|protein_coding|4/6|c.280G>C|p.Glu94Gln|439/1045|280/886|94/294||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|KLHL22|ENSG00000099910|transcript|ENST00000458248|protein_coding|2/4|c.184G>C|p.Glu62Gln|221/742|184/705|62/234||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|KLHL22|ENSG00000099910|transcript|ENST00000443285|protein_coding|3/5|c.286G>C|p.Glu96Gln|323/792|286/755|96/250||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|KLHL22|ENSG00000099910|transcript|ENST00000431430|protein_coding|2/4|c.184G>C|p.Glu62Gln|281/572|184/475|62/157||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|KLHL22|ENSG00000099910|transcript|ENST00000423364|protein_coding|3/3|c.280G>C|p.Glu94Gln|726/769|280/323|94/106||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|KLHL22|ENSG00000099910|domain:BTB|ENST00000328879|protein_coding|2/7|c.184G>C||||||,G|sequence_feature|LOW|KLHL22|ENSG00000099910|domain:BTB|ENST00000328879|protein_coding|3/7|c.184G>C||||||,G|5_prime_UTR_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000440659|protein_coding|2/6|c.-80G>C|||||23488|,G|upstream_gene_variant|MODIFIER|KRT18P5|ENSG00000236670|transcript|ENST00000436075|processed_pseudogene||n.-1G>C|||||4923|,G|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000451553|protein_coding|1/2|c.-5+6732G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000479601|retained_intron|2/5|n.250G>C||||||,G|non_coding_exon_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000494929|processed_transcript|2/3|n.275G>C||||||,G|non_coding_exon_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000470335|processed_transcript|2/3|n.302G>C||||||,G|non_coding_exon_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000490556|processed_transcript|2/2|n.211G>C|||||| 22 20843378 . G A . . ANN=A|synonymous_variant|LOW|KLHL22|ENSG00000099910|transcript|ENST00000328879|protein_coding|2/7|c.121C>T|p.Leu41Leu|278/2616|121/1905|41/634||,A|synonymous_variant|LOW|KLHL22|ENSG00000099910|transcript|ENST00000444967|protein_coding|4/6|c.217C>T|p.Leu73Leu|376/1045|217/886|73/294||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|KLHL22|ENSG00000099910|transcript|ENST00000458248|protein_coding|2/4|c.121C>T|p.Leu41Leu|158/742|121/705|41/234||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|KLHL22|ENSG00000099910|transcript|ENST00000443285|protein_coding|3/5|c.223C>T|p.Leu75Leu|260/792|223/755|75/250||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|KLHL22|ENSG00000099910|transcript|ENST00000431430|protein_coding|2/4|c.121C>T|p.Leu41Leu|218/572|121/475|41/157||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|KLHL22|ENSG00000099910|transcript|ENST00000423364|protein_coding|3/3|c.217C>T|p.Leu73Leu|663/769|217/323|73/106||WARNING_TRANSCRIPT_INCOMPLETE,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|KLHL22|ENSG00000099910|transcript|ENST00000440659|protein_coding|2/6|c.-143C>T||||||,A|5_prime_UTR_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000440659|protein_coding|2/6|c.-143C>T|||||23551|,A|upstream_gene_variant|MODIFIER|KRT18P5|ENSG00000236670|transcript|ENST00000436075|processed_pseudogene||n.-1C>T|||||4986|,A|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000451553|protein_coding|1/2|c.-5+6669C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000490556|processed_transcript|1/1|n.204-56C>T||||||,A|non_coding_exon_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000479601|retained_intron|2/5|n.187C>T||||||,A|non_coding_exon_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000494929|processed_transcript|2/3|n.212C>T||||||,A|non_coding_exon_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000470335|processed_transcript|2/3|n.239C>T|||||| 22 20843508 . C T . . ANN=T|synonymous_variant|LOW|KLHL22|ENSG00000099910|transcript|ENST00000444967|protein_coding|4/6|c.87G>A|p.Val29Val|246/1045|87/886|29/294||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|KLHL22|ENSG00000099910|transcript|ENST00000443285|protein_coding|3/5|c.93G>A|p.Val31Val|130/792|93/755|31/250||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|KLHL22|ENSG00000099910|transcript|ENST00000423364|protein_coding|3/3|c.87G>A|p.Val29Val|533/769|87/323|29/106||WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000328879|protein_coding|2/7|c.-10G>A|||||10|,T|5_prime_UTR_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000440659|protein_coding|2/6|c.-273G>A|||||23681|,T|5_prime_UTR_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000431430|protein_coding|2/4|c.-10G>A|||||10|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000451553|protein_coding|1/2|c.-5+6539G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000458248|protein_coding|1/3|c.-1-9G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000490556|processed_transcript|1/1|n.204-186G>A||||||,T|non_coding_exon_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000479601|retained_intron|2/5|n.57G>A||||||,T|non_coding_exon_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000494929|processed_transcript|2/3|n.82G>A||||||,T|non_coding_exon_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000470335|processed_transcript|2/3|n.109G>A|||||| 22 20861934 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|1/18|c.-32G>A|||||32|,A|5_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000444094|nonsense_mediated_decay|1/4|n.-32G>A|||||32|,A|5_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000414658|protein_coding|1/7|c.-228G>A|||||29480|WARNING_TRANSCRIPT_INCOMPLETE,A|5_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|1/17|n.-32G>A|||||32|,A|5_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000432052|protein_coding|1/6|c.-228G>A|||||29480|WARNING_TRANSCRIPT_INCOMPLETE,A|5_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|1/16|c.-152G>A|||||29522|,A|5_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|1/17|c.-32G>A|||||32|,A|5_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|1/11|c.-322G>A|||||56937|,A|5_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|1/17|c.-99G>A|||||29480|,A|5_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|1/16|c.-32G>A|||||32|,A|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000441501|nonsense_mediated_decay||n.-226G>A|||||401|,A|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding||c.-404G>A|||||405|,A|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000438962|protein_coding||c.-217G>A|||||410|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000445987|protein_coding|2/5|c.-11+6811G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000444094|nonsense_mediated_decay|1/4|n.-32G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000486656|retained_intron|1/3|n.66G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|1/17|n.-32G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000477824|processed_transcript|1/5|n.36G>A|||||| 22 20862056 . G A . . ANN=A|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000263205|protein_coding|1/18|c.68+23G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000263205|protein_coding|3/18|c.68+23G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000263205|protein_coding|4/18|c.68+23G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000263205|protein_coding|2/18|c.68+23G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000263205|protein_coding|1/18|c.68+23G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000263205|protein_coding|2/18|c.68+23G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000292733|protein_coding|3/17|c.68+23G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000292733|protein_coding|1/17|c.68+23G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000292733|protein_coding|4/17|c.68+23G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000292733|protein_coding|2/17|c.68+23G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000292733|protein_coding|1/17|c.68+23G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000292733|protein_coding|2/17|c.68+23G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000382974|protein_coding|3/16|c.68+23G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000382974|protein_coding|4/16|c.68+23G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000382974|protein_coding|1/16|c.68+23G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000382974|protein_coding|2/16|c.68+23G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000382974|protein_coding|1/16|c.68+23G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000382974|protein_coding|2/16|c.68+23G>A||||||,A|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000441501|nonsense_mediated_decay||n.-226G>A|||||279|,A|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding||c.-404G>A|||||283|,A|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000438962|protein_coding||c.-217G>A|||||288|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|1/17|c.68+23G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000445987|protein_coding|2/5|c.-11+6933G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000444094|nonsense_mediated_decay|1/3|n.68+23G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000486656|retained_intron|1/2|n.165+23G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000414658|protein_coding|1/6|c.-129+23G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|1/16|n.68+23G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000432052|protein_coding|1/5|c.-129+23G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|1/15|c.-53+23G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|1/16|c.68+23G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|1/10|c.-223+23G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000477824|processed_transcript|1/4|n.135+23G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|1/16|c.-11+34G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|1/15|c.68+23G>A|||||| 22 20891365 . C T . . ANN=T|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000263205|protein_coding|1/18|c.69-39C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000263205|protein_coding|3/18|c.69-39C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000263205|protein_coding|4/18|c.69-39C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000263205|protein_coding|2/18|c.69-39C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000263205|protein_coding|1/18|c.69-39C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000263205|protein_coding|2/18|c.69-39C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000292733|protein_coding|3/17|c.69-39C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000292733|protein_coding|1/17|c.69-39C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000292733|protein_coding|4/17|c.69-39C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000292733|protein_coding|2/17|c.69-39C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000292733|protein_coding|1/17|c.69-39C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000292733|protein_coding|2/17|c.69-39C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000382974|protein_coding|3/16|c.69-39C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000382974|protein_coding|4/16|c.69-39C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000382974|protein_coding|1/16|c.69-39C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000382974|protein_coding|2/16|c.69-39C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000382974|protein_coding|1/16|c.69-39C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000382974|protein_coding|2/16|c.69-39C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|1/17|c.69-39C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000445987|protein_coding|2/5|c.-10-39C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000444094|nonsense_mediated_decay|1/3|n.69-39C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000486656|retained_intron|1/2|n.166-39C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000414658|protein_coding|2/6|c.-10-39C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|1/16|n.69-39C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000432052|protein_coding|2/5|c.-10-39C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|1/15|c.-52-39C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|1/16|c.69-39C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|1/10|c.-222-39C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000477824|processed_transcript|2/4|n.254-39C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|1/16|c.-10-39C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|1/15|c.69-39C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000441501|nonsense_mediated_decay|1/5|n.173-39C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|1/16|c.-10-39C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000438962|protein_coding|2/2|c.291-39C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000445189|protein_coding|1/4|c.-10-39C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000451058|protein_coding|1/4|c.-10-39C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473028|processed_transcript|1/3|n.81-39C>T|||||| 22 20891366 . T C . . ANN=C|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000263205|protein_coding|1/18|c.69-38T>C||||||,C|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000263205|protein_coding|3/18|c.69-38T>C||||||,C|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000263205|protein_coding|4/18|c.69-38T>C||||||,C|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000263205|protein_coding|2/18|c.69-38T>C||||||,C|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000263205|protein_coding|1/18|c.69-38T>C||||||,C|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000263205|protein_coding|2/18|c.69-38T>C||||||,C|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000292733|protein_coding|3/17|c.69-38T>C||||||,C|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000292733|protein_coding|1/17|c.69-38T>C||||||,C|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000292733|protein_coding|4/17|c.69-38T>C||||||,C|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000292733|protein_coding|2/17|c.69-38T>C||||||,C|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000292733|protein_coding|1/17|c.69-38T>C||||||,C|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000292733|protein_coding|2/17|c.69-38T>C||||||,C|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000382974|protein_coding|3/16|c.69-38T>C||||||,C|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000382974|protein_coding|4/16|c.69-38T>C||||||,C|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000382974|protein_coding|1/16|c.69-38T>C||||||,C|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000382974|protein_coding|2/16|c.69-38T>C||||||,C|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000382974|protein_coding|1/16|c.69-38T>C||||||,C|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000382974|protein_coding|2/16|c.69-38T>C||||||,C|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|1/17|c.69-38T>C||||||,C|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000445987|protein_coding|2/5|c.-10-38T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000444094|nonsense_mediated_decay|1/3|n.69-38T>C||||||,C|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000486656|retained_intron|1/2|n.166-38T>C||||||,C|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000414658|protein_coding|2/6|c.-10-38T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|1/16|n.69-38T>C||||||,C|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000432052|protein_coding|2/5|c.-10-38T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|1/15|c.-52-38T>C||||||,C|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|1/16|c.69-38T>C||||||,C|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|1/10|c.-222-38T>C||||||,C|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000477824|processed_transcript|2/4|n.254-38T>C||||||,C|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|1/16|c.-10-38T>C||||||,C|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|1/15|c.69-38T>C||||||,C|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000441501|nonsense_mediated_decay|1/5|n.173-38T>C||||||,C|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|1/16|c.-10-38T>C||||||,C|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000438962|protein_coding|2/2|c.291-38T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000445189|protein_coding|1/4|c.-10-38T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000451058|protein_coding|1/4|c.-10-38T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473028|processed_transcript|1/3|n.81-38T>C|||||| 22 20891380 . G A . . ANN=A|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000263205|protein_coding|1/18|c.69-24G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000263205|protein_coding|3/18|c.69-24G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000263205|protein_coding|4/18|c.69-24G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000263205|protein_coding|2/18|c.69-24G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000263205|protein_coding|1/18|c.69-24G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000263205|protein_coding|2/18|c.69-24G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000292733|protein_coding|3/17|c.69-24G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000292733|protein_coding|1/17|c.69-24G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000292733|protein_coding|4/17|c.69-24G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000292733|protein_coding|2/17|c.69-24G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000292733|protein_coding|1/17|c.69-24G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000292733|protein_coding|2/17|c.69-24G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000382974|protein_coding|3/16|c.69-24G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000382974|protein_coding|4/16|c.69-24G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000382974|protein_coding|1/16|c.69-24G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000382974|protein_coding|2/16|c.69-24G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000382974|protein_coding|1/16|c.69-24G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000382974|protein_coding|2/16|c.69-24G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|1/17|c.69-24G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000445987|protein_coding|2/5|c.-10-24G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000444094|nonsense_mediated_decay|1/3|n.69-24G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000486656|retained_intron|1/2|n.166-24G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000414658|protein_coding|2/6|c.-10-24G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|1/16|n.69-24G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000432052|protein_coding|2/5|c.-10-24G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|1/15|c.-52-24G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|1/16|c.69-24G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|1/10|c.-222-24G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000477824|processed_transcript|2/4|n.254-24G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|1/16|c.-10-24G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|1/15|c.69-24G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000441501|nonsense_mediated_decay|1/5|n.173-24G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|1/16|c.-10-24G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000438962|protein_coding|2/2|c.291-24G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000445189|protein_coding|1/4|c.-10-24G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000451058|protein_coding|1/4|c.-10-24G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473028|processed_transcript|1/3|n.81-24G>A|||||| 22 20891498 . C CCCTA . . ANN=CCTA|splice_donor_variant&intron_variant|HIGH|MED15|ENSG00000099917|transcript|ENST00000486656|retained_intron|2/2|n.261_264dupCCTA||||||INFO_REALIGN_3_PRIME,CCTA|splice_donor_variant&intron_variant|HIGH|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|2/16|n.164_167dupCCTA||||||INFO_REALIGN_3_PRIME,CCTA|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000263205|protein_coding|1/18|c.156+7_156+8insCCTA||||||,CCTA|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000263205|protein_coding|3/18|c.156+7_156+8insCCTA||||||,CCTA|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000263205|protein_coding|4/18|c.156+7_156+8insCCTA||||||,CCTA|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000263205|protein_coding|2/18|c.156+7_156+8insCCTA||||||,CCTA|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000263205|protein_coding|3/18|c.156+7_156+8insCCTA||||||,CCTA|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000263205|protein_coding|4/18|c.156+7_156+8insCCTA||||||,CCTA|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000263205|protein_coding|2/18|c.156+7_156+8insCCTA||||||,CCTA|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000292733|protein_coding|3/17|c.156+7_156+8insCCTA||||||,CCTA|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000292733|protein_coding|1/17|c.156+7_156+8insCCTA||||||,CCTA|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000292733|protein_coding|4/17|c.156+7_156+8insCCTA||||||,CCTA|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000292733|protein_coding|2/17|c.156+7_156+8insCCTA||||||,CCTA|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000292733|protein_coding|3/17|c.156+7_156+8insCCTA||||||,CCTA|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000292733|protein_coding|4/17|c.156+7_156+8insCCTA||||||,CCTA|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000292733|protein_coding|2/17|c.156+7_156+8insCCTA||||||,CCTA|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000382974|protein_coding|3/16|c.156+7_156+8insCCTA||||||,CCTA|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000382974|protein_coding|4/16|c.156+7_156+8insCCTA||||||,CCTA|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000382974|protein_coding|1/16|c.156+7_156+8insCCTA||||||,CCTA|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000382974|protein_coding|2/16|c.156+7_156+8insCCTA||||||,CCTA|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000382974|protein_coding|3/16|c.156+7_156+8insCCTA||||||,CCTA|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000382974|protein_coding|4/16|c.156+7_156+8insCCTA||||||,CCTA|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000382974|protein_coding|2/16|c.156+7_156+8insCCTA||||||,CCTA|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000438962|protein_coding||c.*573_*573insCCTA|||||29|WARNING_TRANSCRIPT_NO_STOP_CODON,CCTA|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|2/17|c.156+8_156+11dupCCTA||||||INFO_REALIGN_3_PRIME,CCTA|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000445987|protein_coding|3/5|c.78+8_78+11dupCCTA||||||WARNING_TRANSCRIPT_NO_STOP_CODON&INFO_REALIGN_3_PRIME,CCTA|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000444094|nonsense_mediated_decay|2/3|n.156+8_156+11dupCCTA||||||INFO_REALIGN_3_PRIME,CCTA|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000414658|protein_coding|3/6|c.78+8_78+11dupCCTA||||||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME,CCTA|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000432052|protein_coding|3/5|c.78+8_78+11dupCCTA||||||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME,CCTA|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|2/15|c.36+8_36+11dupCCTA||||||INFO_REALIGN_3_PRIME,CCTA|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|2/16|c.156+8_156+11dupCCTA||||||INFO_REALIGN_3_PRIME,CCTA|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|2/10|c.-135+8_-135+11dupCCTA||||||INFO_REALIGN_3_PRIME,CCTA|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000477824|processed_transcript|3/4|n.341+8_341+11dupCCTA||||||INFO_REALIGN_3_PRIME,CCTA|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|2/16|c.78+8_78+11dupCCTA||||||INFO_REALIGN_3_PRIME,CCTA|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|2/15|c.156+8_156+11dupCCTA||||||INFO_REALIGN_3_PRIME,CCTA|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000441501|nonsense_mediated_decay|2/5|n.*74+8_*74+11dupCCTA||||||INFO_REALIGN_3_PRIME,CCTA|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|2/16|c.78+8_78+11dupCCTA||||||INFO_REALIGN_3_PRIME,CCTA|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000445189|protein_coding|2/4|c.78+8_78+11dupCCTA||||||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME,CCTA|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000451058|protein_coding|2/4|c.78+8_78+11dupCCTA||||||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME,CCTA|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473028|processed_transcript|2/3|n.168+8_168+11dupCCTA||||||INFO_REALIGN_3_PRIME 22 20891501 . T TACCG . . ANN=CCGA|splice_donor_variant&intron_variant|HIGH|MED15|ENSG00000099917|transcript|ENST00000486656|retained_intron|2/2|n.264_264+1insCCGA||||||INFO_REALIGN_3_PRIME,CCGA|splice_donor_variant&intron_variant|HIGH|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|2/16|n.167_167+1insCCGA||||||INFO_REALIGN_3_PRIME,ACCG|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000263205|protein_coding|1/18|c.156+10_156+11insACCG||||||,ACCG|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000263205|protein_coding|3/18|c.156+10_156+11insACCG||||||,ACCG|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000263205|protein_coding|4/18|c.156+10_156+11insACCG||||||,ACCG|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000263205|protein_coding|2/18|c.156+10_156+11insACCG||||||,ACCG|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000263205|protein_coding|3/18|c.156+10_156+11insACCG||||||,ACCG|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000263205|protein_coding|4/18|c.156+10_156+11insACCG||||||,ACCG|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000263205|protein_coding|2/18|c.156+10_156+11insACCG||||||,ACCG|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000292733|protein_coding|3/17|c.156+10_156+11insACCG||||||,ACCG|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000292733|protein_coding|1/17|c.156+10_156+11insACCG||||||,ACCG|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000292733|protein_coding|4/17|c.156+10_156+11insACCG||||||,ACCG|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000292733|protein_coding|2/17|c.156+10_156+11insACCG||||||,ACCG|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000292733|protein_coding|3/17|c.156+10_156+11insACCG||||||,ACCG|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000292733|protein_coding|4/17|c.156+10_156+11insACCG||||||,ACCG|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000292733|protein_coding|2/17|c.156+10_156+11insACCG||||||,ACCG|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000382974|protein_coding|3/16|c.156+10_156+11insACCG||||||,ACCG|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000382974|protein_coding|4/16|c.156+10_156+11insACCG||||||,ACCG|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000382974|protein_coding|1/16|c.156+10_156+11insACCG||||||,ACCG|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000382974|protein_coding|2/16|c.156+10_156+11insACCG||||||,ACCG|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000382974|protein_coding|3/16|c.156+10_156+11insACCG||||||,ACCG|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000382974|protein_coding|4/16|c.156+10_156+11insACCG||||||,ACCG|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000382974|protein_coding|2/16|c.156+10_156+11insACCG||||||,ACCG|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000438962|protein_coding||c.*573_*573insACCG|||||32|WARNING_TRANSCRIPT_NO_STOP_CODON,CCGA|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|2/17|c.156+11_156+12insCCGA||||||INFO_REALIGN_3_PRIME,CCGA|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000445987|protein_coding|3/5|c.78+11_78+12insCCGA||||||WARNING_TRANSCRIPT_NO_STOP_CODON&INFO_REALIGN_3_PRIME,CCGA|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000444094|nonsense_mediated_decay|2/3|n.156+11_156+12insCCGA||||||INFO_REALIGN_3_PRIME,CCGA|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000414658|protein_coding|3/6|c.78+11_78+12insCCGA||||||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME,CCGA|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000432052|protein_coding|3/5|c.78+11_78+12insCCGA||||||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME,CCGA|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|2/15|c.36+11_36+12insCCGA||||||INFO_REALIGN_3_PRIME,CCGA|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|2/16|c.156+11_156+12insCCGA||||||INFO_REALIGN_3_PRIME,CCGA|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|2/10|c.-135+11_-135+12insCCGA||||||INFO_REALIGN_3_PRIME,CCGA|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000477824|processed_transcript|3/4|n.341+11_341+12insCCGA||||||INFO_REALIGN_3_PRIME,CCGA|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|2/16|c.78+11_78+12insCCGA||||||INFO_REALIGN_3_PRIME,CCGA|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|2/15|c.156+11_156+12insCCGA||||||INFO_REALIGN_3_PRIME,CCGA|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000441501|nonsense_mediated_decay|2/5|n.*74+11_*74+12insCCGA||||||INFO_REALIGN_3_PRIME,CCGA|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|2/16|c.78+11_78+12insCCGA||||||INFO_REALIGN_3_PRIME,CCGA|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000445189|protein_coding|2/4|c.78+11_78+12insCCGA||||||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME,CCGA|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000451058|protein_coding|2/4|c.78+11_78+12insCCGA||||||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME,CCGA|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473028|processed_transcript|2/3|n.168+11_168+12insCCGA||||||INFO_REALIGN_3_PRIME 22 20891502 . A ACCTG . . ANN=CCTG|splice_donor_variant&intron_variant|HIGH|MED15|ENSG00000099917|transcript|ENST00000486656|retained_intron|2/2|n.264_264+1insCCTG||||||,CCTG|splice_donor_variant&intron_variant|HIGH|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|2/16|n.167_167+1insCCTG||||||,CCTG|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000263205|protein_coding|1/18|c.156+11_156+12insCCTG||||||,CCTG|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000263205|protein_coding|3/18|c.156+11_156+12insCCTG||||||,CCTG|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000263205|protein_coding|4/18|c.156+11_156+12insCCTG||||||,CCTG|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000263205|protein_coding|2/18|c.156+11_156+12insCCTG||||||,CCTG|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000263205|protein_coding|3/18|c.156+11_156+12insCCTG||||||,CCTG|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000263205|protein_coding|4/18|c.156+11_156+12insCCTG||||||,CCTG|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000263205|protein_coding|2/18|c.156+11_156+12insCCTG||||||,CCTG|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000292733|protein_coding|3/17|c.156+11_156+12insCCTG||||||,CCTG|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000292733|protein_coding|1/17|c.156+11_156+12insCCTG||||||,CCTG|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000292733|protein_coding|4/17|c.156+11_156+12insCCTG||||||,CCTG|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000292733|protein_coding|2/17|c.156+11_156+12insCCTG||||||,CCTG|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000292733|protein_coding|3/17|c.156+11_156+12insCCTG||||||,CCTG|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000292733|protein_coding|4/17|c.156+11_156+12insCCTG||||||,CCTG|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000292733|protein_coding|2/17|c.156+11_156+12insCCTG||||||,CCTG|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000382974|protein_coding|3/16|c.156+11_156+12insCCTG||||||,CCTG|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000382974|protein_coding|4/16|c.156+11_156+12insCCTG||||||,CCTG|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000382974|protein_coding|1/16|c.156+11_156+12insCCTG||||||,CCTG|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000382974|protein_coding|2/16|c.156+11_156+12insCCTG||||||,CCTG|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000382974|protein_coding|3/16|c.156+11_156+12insCCTG||||||,CCTG|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000382974|protein_coding|4/16|c.156+11_156+12insCCTG||||||,CCTG|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000382974|protein_coding|2/16|c.156+11_156+12insCCTG||||||,CCTG|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000438962|protein_coding||c.*573_*573insCCTG|||||33|WARNING_TRANSCRIPT_NO_STOP_CODON,CCTG|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|2/17|c.156+11_156+12insCCTG||||||,CCTG|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000445987|protein_coding|3/5|c.78+11_78+12insCCTG||||||WARNING_TRANSCRIPT_NO_STOP_CODON,CCTG|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000444094|nonsense_mediated_decay|2/3|n.156+11_156+12insCCTG||||||,CCTG|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000414658|protein_coding|3/6|c.78+11_78+12insCCTG||||||WARNING_TRANSCRIPT_INCOMPLETE,CCTG|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000432052|protein_coding|3/5|c.78+11_78+12insCCTG||||||WARNING_TRANSCRIPT_INCOMPLETE,CCTG|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|2/15|c.36+11_36+12insCCTG||||||,CCTG|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|2/16|c.156+11_156+12insCCTG||||||,CCTG|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|2/10|c.-135+11_-135+12insCCTG||||||,CCTG|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000477824|processed_transcript|3/4|n.341+11_341+12insCCTG||||||,CCTG|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|2/16|c.78+11_78+12insCCTG||||||,CCTG|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|2/15|c.156+11_156+12insCCTG||||||,CCTG|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000441501|nonsense_mediated_decay|2/5|n.*74+11_*74+12insCCTG||||||,CCTG|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|2/16|c.78+11_78+12insCCTG||||||,CCTG|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000445189|protein_coding|2/4|c.78+11_78+12insCCTG||||||WARNING_TRANSCRIPT_INCOMPLETE,CCTG|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000451058|protein_coding|2/4|c.78+11_78+12insCCTG||||||WARNING_TRANSCRIPT_INCOMPLETE,CCTG|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473028|processed_transcript|2/3|n.168+11_168+12insCCTG|||||| 22 20891539 . G A . . ANN=A|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000263205|protein_coding|1/18|c.156+48G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000263205|protein_coding|3/18|c.156+48G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000263205|protein_coding|4/18|c.156+48G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000263205|protein_coding|2/18|c.156+48G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000263205|protein_coding|3/18|c.156+48G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000263205|protein_coding|4/18|c.156+48G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000263205|protein_coding|2/18|c.156+48G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000292733|protein_coding|3/17|c.156+48G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000292733|protein_coding|1/17|c.156+48G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000292733|protein_coding|4/17|c.156+48G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000292733|protein_coding|2/17|c.156+48G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000292733|protein_coding|3/17|c.156+48G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000292733|protein_coding|4/17|c.156+48G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000292733|protein_coding|2/17|c.156+48G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000382974|protein_coding|3/16|c.156+48G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000382974|protein_coding|4/16|c.156+48G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000382974|protein_coding|1/16|c.156+48G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|interacting_region:Interaction_with_SREBF1|ENST00000382974|protein_coding|2/16|c.156+48G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000382974|protein_coding|3/16|c.156+48G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000382974|protein_coding|4/16|c.156+48G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|helix|ENST00000382974|protein_coding|2/16|c.156+48G>A||||||,A|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000438962|protein_coding||c.*573G>A|||||69|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|2/17|c.156+48G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000445987|protein_coding|3/5|c.78+48G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000444094|nonsense_mediated_decay|2/3|n.156+48G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000486656|retained_intron|2/2|n.264+37G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000414658|protein_coding|3/6|c.78+48G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|2/16|n.167+37G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000432052|protein_coding|3/5|c.78+48G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|2/15|c.36+48G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|2/16|c.156+48G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|2/10|c.-135+48G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000477824|processed_transcript|3/4|n.341+48G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|2/16|c.78+48G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|2/15|c.156+48G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000441501|nonsense_mediated_decay|2/5|n.*74+48G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|2/16|c.78+48G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000445189|protein_coding|2/4|c.78+48G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000451058|protein_coding|2/4|c.78+48G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473028|processed_transcript|2/3|n.168+48G>A|||||| 22 20909206 . C T . . ANN=T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000486656|retained_intron||n.*577C>T|||||3171|,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|4/17|c.239-17C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000445987|protein_coding|5/5|c.161-17C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000444094|nonsense_mediated_decay|2/3|n.157-17C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000414658|protein_coding|5/6|c.161-17C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|4/16|n.*82-17C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000432052|protein_coding|5/5|c.160+1745C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|4/15|c.118+1745C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|4/16|c.239-17C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|2/10|c.-134-9531C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000477824|processed_transcript|3/4|n.342-17C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|4/16|c.161-17C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|4/15|c.238+1745C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000441501|nonsense_mediated_decay|4/5|n.*157-17C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|4/16|c.161-17C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000445189|protein_coding|4/4|c.161-17C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000451058|protein_coding|4/4|c.161-17C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473028|processed_transcript|2/3|n.169-17C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000457322|protein_coding|3/4|c.122-17C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000428629|protein_coding|3/3|c.97+1745C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000424287|protein_coding|3/4|c.98-17C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000423862|protein_coding|3/6|c.140-17C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000420849|nonsense_mediated_decay|4/4|n.*158-17C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000487550|processed_transcript|2/4|n.112-17C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476767|retained_intron|1/3|n.79-17C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|1/13|n.681C>T|||||| 22 20909255 . G A . . ANN=A|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|5/18|c.271G>A|p.Gly91Arg|340/3351|271/2367|91/788||,A|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000445987|protein_coding|6/6|c.193G>A|p.Gly65Arg|423/590|193/360|65/119||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000414658|protein_coding|6/7|c.193G>A|p.Gly65Arg|486/717|193/424|65/140||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|5/17|c.271G>A|p.Gly91Arg|348/3252|271/2247|91/748||,A|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|5/17|c.193G>A|p.Gly65Arg|321/3210|193/2169|65/722||,A|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|5/17|c.193G>A|p.Gly65Arg|596/2703|193/2169|65/722||,A|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000445189|protein_coding|5/5|c.193G>A|p.Gly65Arg|416/596|193/373|65/123||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000451058|protein_coding|5/5|c.193G>A|p.Gly65Arg|295/418|193/316|65/104||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000457322|protein_coding|4/5|c.154G>A|p.Gly52Arg|295/623|154/482|52/159||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000424287|protein_coding|4/5|c.130G>A|p.Gly44Arg|222/589|130/497|44/164||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000423862|protein_coding|4/7|c.172G>A|p.Gly58Arg|173/581|172/580|58/192||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000444094|nonsense_mediated_decay|3/4|n.*24G>A|||||24|,A|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|5/17|n.*114G>A|||||3532|,A|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000441501|nonsense_mediated_decay|5/6|n.*189G>A|||||17838|,A|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000420849|nonsense_mediated_decay|5/5|n.*190G>A|||||2386|,A|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000486656|retained_intron||n.*577G>A|||||3220|,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000432052|protein_coding|5/5|c.160+1794G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|4/15|c.118+1794G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|2/10|c.-134-9482G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|4/15|c.238+1794G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000428629|protein_coding|3/3|c.97+1794G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000444094|nonsense_mediated_decay|3/4|n.*24G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|5/17|n.*114G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000477824|processed_transcript|4/5|n.374G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000441501|nonsense_mediated_decay|5/6|n.*189G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473028|processed_transcript|3/4|n.201G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000420849|nonsense_mediated_decay|5/5|n.*190G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000487550|processed_transcript|3/5|n.144G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476767|retained_intron|2/4|n.111G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|1/13|n.730G>A|||||| 22 20909272 . C T . . ANN=T|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|5/18|c.288C>T|p.Ala96Ala|357/3351|288/2367|96/788||,T|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000445987|protein_coding|6/6|c.210C>T|p.Ala70Ala|440/590|210/360|70/119||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000414658|protein_coding|6/7|c.210C>T|p.Ala70Ala|503/717|210/424|70/140||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|5/17|c.288C>T|p.Ala96Ala|365/3252|288/2247|96/748||,T|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|5/17|c.210C>T|p.Ala70Ala|338/3210|210/2169|70/722||,T|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|5/17|c.210C>T|p.Ala70Ala|613/2703|210/2169|70/722||,T|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000445189|protein_coding|5/5|c.210C>T|p.Ala70Ala|433/596|210/373|70/123||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000451058|protein_coding|5/5|c.210C>T|p.Ala70Ala|312/418|210/316|70/104||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000457322|protein_coding|4/5|c.171C>T|p.Ala57Ala|312/623|171/482|57/159||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000424287|protein_coding|4/5|c.147C>T|p.Ala49Ala|239/589|147/497|49/164||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000423862|protein_coding|4/7|c.189C>T|p.Ala63Ala|190/581|189/580|63/192||WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000444094|nonsense_mediated_decay|3/4|n.*41C>T|||||41|,T|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|5/17|n.*131C>T|||||3549|,T|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000441501|nonsense_mediated_decay|5/6|n.*206C>T|||||17855|,T|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000420849|nonsense_mediated_decay|5/5|n.*207C>T|||||2403|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000486656|retained_intron||n.*577C>T|||||3237|,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000432052|protein_coding|5/5|c.160+1811C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|4/15|c.118+1811C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|2/10|c.-134-9465C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|4/15|c.238+1811C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000428629|protein_coding|3/3|c.97+1811C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000444094|nonsense_mediated_decay|3/4|n.*41C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|5/17|n.*131C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000477824|processed_transcript|4/5|n.391C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000441501|nonsense_mediated_decay|5/6|n.*206C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473028|processed_transcript|3/4|n.218C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000420849|nonsense_mediated_decay|5/5|n.*207C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000487550|processed_transcript|3/5|n.161C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476767|retained_intron|2/4|n.128C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|1/13|n.747C>T|||||| 22 20909294 . C T . . ANN=T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|5/18|c.310C>T|p.Arg104Trp|379/3351|310/2367|104/788||,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000445987|protein_coding|6/6|c.232C>T|p.Arg78Trp|462/590|232/360|78/119||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000414658|protein_coding|6/7|c.232C>T|p.Arg78Trp|525/717|232/424|78/140||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|5/17|c.310C>T|p.Arg104Trp|387/3252|310/2247|104/748||,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|5/17|c.232C>T|p.Arg78Trp|360/3210|232/2169|78/722||,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|5/17|c.232C>T|p.Arg78Trp|635/2703|232/2169|78/722||,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000445189|protein_coding|5/5|c.232C>T|p.Arg78Trp|455/596|232/373|78/123||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000451058|protein_coding|5/5|c.232C>T|p.Arg78Trp|334/418|232/316|78/104||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000457322|protein_coding|4/5|c.193C>T|p.Arg65Trp|334/623|193/482|65/159||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000424287|protein_coding|4/5|c.169C>T|p.Arg57Trp|261/589|169/497|57/164||WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000444094|nonsense_mediated_decay|3/4|n.*63C>T|||||63|,T|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|5/17|n.*153C>T|||||3571|,T|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000441501|nonsense_mediated_decay|5/6|n.*228C>T|||||17877|,T|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000420849|nonsense_mediated_decay|5/5|n.*229C>T|||||2425|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000486656|retained_intron||n.*577C>T|||||3259|,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000432052|protein_coding|5/5|c.160+1833C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|4/15|c.118+1833C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|2/10|c.-134-9443C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|4/15|c.238+1833C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000428629|protein_coding|3/3|c.97+1833C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000423862|protein_coding|4/6|c.199+12C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000444094|nonsense_mediated_decay|3/4|n.*63C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|5/17|n.*153C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000477824|processed_transcript|4/5|n.413C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000441501|nonsense_mediated_decay|5/6|n.*228C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473028|processed_transcript|3/4|n.240C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000420849|nonsense_mediated_decay|5/5|n.*229C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000487550|processed_transcript|3/5|n.183C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476767|retained_intron|2/4|n.150C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|1/13|n.769C>T|||||| 22 20909330 . C G . . ANN=G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|5/18|c.346C>G|p.Leu116Val|415/3351|346/2367|116/788||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000445987|protein_coding|6/6|c.268C>G|p.Leu90Val|498/590|268/360|90/119||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000414658|protein_coding|6/7|c.268C>G|p.Leu90Val|561/717|268/424|90/140||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|5/17|c.346C>G|p.Leu116Val|423/3252|346/2247|116/748||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|5/17|c.268C>G|p.Leu90Val|396/3210|268/2169|90/722||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|5/17|c.268C>G|p.Leu90Val|671/2703|268/2169|90/722||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000445189|protein_coding|5/5|c.268C>G|p.Leu90Val|491/596|268/373|90/123||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000451058|protein_coding|5/5|c.268C>G|p.Leu90Val|370/418|268/316|90/104||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000457322|protein_coding|4/5|c.229C>G|p.Leu77Val|370/623|229/482|77/159||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000424287|protein_coding|4/5|c.205C>G|p.Leu69Val|297/589|205/497|69/164||WARNING_TRANSCRIPT_INCOMPLETE,G|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000444094|nonsense_mediated_decay|3/4|n.*99C>G|||||99|,G|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|5/17|n.*189C>G|||||3607|,G|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000441501|nonsense_mediated_decay|5/6|n.*264C>G|||||17913|,G|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000420849|nonsense_mediated_decay|5/5|n.*265C>G|||||2461|,G|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000486656|retained_intron||n.*577C>G|||||3295|,G|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000432052|protein_coding|5/5|c.160+1869C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|4/15|c.118+1869C>G||||||,G|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|2/10|c.-134-9407C>G||||||,G|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|4/15|c.238+1869C>G||||||,G|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000428629|protein_coding|3/3|c.97+1869C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000423862|protein_coding|4/6|c.200-34C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000444094|nonsense_mediated_decay|3/4|n.*99C>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|5/17|n.*189C>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000477824|processed_transcript|4/5|n.449C>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000441501|nonsense_mediated_decay|5/6|n.*264C>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473028|processed_transcript|3/4|n.276C>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000420849|nonsense_mediated_decay|5/5|n.*265C>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000487550|processed_transcript|3/5|n.219C>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476767|retained_intron|2/4|n.186C>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|1/13|n.805C>G|||||| 22 20909371 . G A . . ANN=A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|5/18|c.387G>A|p.Pro129Pro|456/3351|387/2367|129/788||,A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000445987|protein_coding|6/6|c.309G>A|p.Pro103Pro|539/590|309/360|103/119||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000414658|protein_coding|6/7|c.309G>A|p.Pro103Pro|602/717|309/424|103/140||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|5/17|c.387G>A|p.Pro129Pro|464/3252|387/2247|129/748||,A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|5/17|c.309G>A|p.Pro103Pro|437/3210|309/2169|103/722||,A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|5/17|c.309G>A|p.Pro103Pro|712/2703|309/2169|103/722||,A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000445189|protein_coding|5/5|c.309G>A|p.Pro103Pro|532/596|309/373|103/123||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000451058|protein_coding|5/5|c.309G>A|p.Pro103Pro|411/418|309/316|103/104||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000457322|protein_coding|4/5|c.270G>A|p.Pro90Pro|411/623|270/482|90/159||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000424287|protein_coding|4/5|c.246G>A|p.Pro82Pro|338/589|246/497|82/164||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000423862|protein_coding|5/7|c.207G>A|p.Pro69Pro|208/581|207/580|69/192||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000444094|nonsense_mediated_decay|3/4|n.*140G>A|||||140|,A|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|5/17|n.*230G>A|||||3648|,A|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000441501|nonsense_mediated_decay|5/6|n.*305G>A|||||17954|,A|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000486656|retained_intron||n.*577G>A|||||3336|,A|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000420849|nonsense_mediated_decay||n.*131G>A|||||7|,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000432052|protein_coding|5/5|c.160+1910G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|4/15|c.118+1910G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|2/10|c.-134-9366G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|4/15|c.238+1910G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000428629|protein_coding|3/3|c.97+1910G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000444094|nonsense_mediated_decay|3/4|n.*140G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|5/17|n.*230G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000477824|processed_transcript|4/5|n.490G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000441501|nonsense_mediated_decay|5/6|n.*305G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473028|processed_transcript|3/4|n.317G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000487550|processed_transcript|3/5|n.260G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476767|retained_intron|2/4|n.227G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|1/13|n.846G>A|||||| 22 20909389 . G A . . ANN=A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|5/18|c.405G>A|p.Gly135Gly|474/3351|405/2367|135/788||,A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000445987|protein_coding|6/6|c.327G>A|p.Gly109Gly|557/590|327/360|109/119||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000414658|protein_coding|6/7|c.327G>A|p.Gly109Gly|620/717|327/424|109/140||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|5/17|c.405G>A|p.Gly135Gly|482/3252|405/2247|135/748||,A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|5/17|c.327G>A|p.Gly109Gly|455/3210|327/2169|109/722||,A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|5/17|c.327G>A|p.Gly109Gly|730/2703|327/2169|109/722||,A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000445189|protein_coding|5/5|c.327G>A|p.Gly109Gly|550/596|327/373|109/123||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000457322|protein_coding|4/5|c.288G>A|p.Gly96Gly|429/623|288/482|96/159||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000424287|protein_coding|4/5|c.264G>A|p.Gly88Gly|356/589|264/497|88/164||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000423862|protein_coding|5/7|c.225G>A|p.Gly75Gly|226/581|225/580|75/192||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000444094|nonsense_mediated_decay|3/4|n.*158G>A|||||158|,A|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|5/17|n.*248G>A|||||3666|,A|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000441501|nonsense_mediated_decay|5/6|n.*323G>A|||||17972|,A|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000486656|retained_intron||n.*577G>A|||||3354|,A|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000451058|protein_coding||c.*418G>A|||||11|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000420849|nonsense_mediated_decay||n.*131G>A|||||25|,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000432052|protein_coding|5/5|c.160+1928G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|4/15|c.118+1928G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|2/10|c.-134-9348G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|4/15|c.238+1928G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000428629|protein_coding|3/3|c.97+1928G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000444094|nonsense_mediated_decay|3/4|n.*158G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|5/17|n.*248G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000477824|processed_transcript|4/5|n.508G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000441501|nonsense_mediated_decay|5/6|n.*323G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473028|processed_transcript|3/4|n.335G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000487550|processed_transcript|3/5|n.278G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476767|retained_intron|2/4|n.245G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|1/13|n.864G>A|||||| 22 20909448 . C T . . ANN=T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000445987|protein_coding||c.*590C>T|||||26|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000486656|retained_intron||n.*577C>T|||||3413|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000445189|protein_coding||c.*596C>T|||||13|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000451058|protein_coding||c.*418C>T|||||70|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000420849|nonsense_mediated_decay||n.*131C>T|||||84|,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|5/17|c.451+13C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000444094|nonsense_mediated_decay|3/3|n.*204+13C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000414658|protein_coding|6/6|c.373+13C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|5/16|n.*294+13C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000432052|protein_coding|5/5|c.160+1987C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|4/15|c.118+1987C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|5/16|c.451+13C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|2/10|c.-134-9289C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000477824|processed_transcript|4/4|n.554+13C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|5/16|c.373+13C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|4/15|c.238+1987C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000441501|nonsense_mediated_decay|5/5|n.*369+13C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|5/16|c.373+13C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473028|processed_transcript|3/3|n.381+13C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000457322|protein_coding|4/4|c.334+13C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000428629|protein_coding|3/3|c.97+1987C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000424287|protein_coding|4/4|c.310+13C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000423862|protein_coding|5/6|c.271+13C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000487550|processed_transcript|3/4|n.324+13C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476767|retained_intron|2/3|n.291+13C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|1/12|n.910+13C>T|||||| 22 20909465 . C T . . ANN=T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000445987|protein_coding||c.*590C>T|||||43|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000486656|retained_intron||n.*577C>T|||||3430|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000445189|protein_coding||c.*596C>T|||||30|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000451058|protein_coding||c.*418C>T|||||87|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000420849|nonsense_mediated_decay||n.*131C>T|||||101|,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|5/17|c.451+30C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000444094|nonsense_mediated_decay|3/3|n.*204+30C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000414658|protein_coding|6/6|c.373+30C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|5/16|n.*294+30C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000432052|protein_coding|5/5|c.160+2004C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|4/15|c.118+2004C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|5/16|c.451+30C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|2/10|c.-134-9272C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000477824|processed_transcript|4/4|n.554+30C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|5/16|c.373+30C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|4/15|c.238+2004C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000441501|nonsense_mediated_decay|5/5|n.*369+30C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|5/16|c.373+30C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473028|processed_transcript|3/3|n.381+30C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000457322|protein_coding|4/4|c.334+30C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000428629|protein_coding|3/3|c.97+2004C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000424287|protein_coding|4/4|c.310+30C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000423862|protein_coding|5/6|c.271+30C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000487550|processed_transcript|3/4|n.324+30C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476767|retained_intron|2/3|n.291+30C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|1/12|n.910+30C>T|||||| 22 20918716 . G A . . ANN=A|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript||n.-1G>A|||||2036|,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|5/17|c.452-21G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000444094|nonsense_mediated_decay|3/3|n.*205-21G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000414658|protein_coding|6/6|c.374-21G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|5/16|n.*295-21G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000432052|protein_coding|5/5|c.161-21G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|4/15|c.119-21G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|5/16|c.452-21G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|2/10|c.-134-21G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000477824|processed_transcript|4/4|n.555-21G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|5/16|c.374-21G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|4/15|c.239-21G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000441501|nonsense_mediated_decay|5/5|n.*370-21G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|5/16|c.374-21G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473028|processed_transcript|3/3|n.382-21G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000457322|protein_coding|4/4|c.335-21G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000428629|protein_coding|3/3|c.98-21G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000424287|protein_coding|4/4|c.311-21G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000423862|protein_coding|5/6|c.272-21G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000487550|processed_transcript|3/4|n.325-21G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476767|retained_intron|2/3|n.292-21G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|1/12|n.911-21G>A|||||| 22 20918779 . A G . . ANN=G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|6/18|c.494A>G|p.Gln165Arg|563/3351|494/2367|165/788||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000414658|protein_coding|7/7|c.416A>G|p.Gln139Arg|709/717|416/424|139/140||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000432052|protein_coding|6/6|c.203A>G|p.Gln68Arg|484/598|203/317|68/104||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|5/16|c.161A>G|p.Gln54Arg|361/3041|161/1914|54/637||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|6/17|c.494A>G|p.Gln165Arg|571/3252|494/2247|165/748||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|6/17|c.416A>G|p.Gln139Arg|544/3210|416/2169|139/722||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|5/16|c.281A>G|p.Gln94Arg|319/2235|281/2034|94/677||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|6/17|c.416A>G|p.Gln139Arg|819/2703|416/2169|139/722||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000457322|protein_coding|5/5|c.377A>G|p.Gln126Arg|518/623|377/482|126/159||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000428629|protein_coding|4/4|c.140A>G|p.Gln47Arg|466/572|140/246|47/81||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000424287|protein_coding|5/5|c.353A>G|p.Gln118Arg|445/589|353/497|118/164||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000423862|protein_coding|6/7|c.314A>G|p.Gln105Arg|315/581|314/580|105/192||WARNING_TRANSCRIPT_INCOMPLETE,G|splice_region_variant&non_coding_exon_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000444094|nonsense_mediated_decay|4/4|n.*247A>G||||||,G|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Poly-Gln|ENST00000263205|protein_coding|6/18|c.494A>G||||||,G|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Poly-Gln|ENST00000292733|protein_coding|6/17|c.494A>G||||||,G|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Poly-Gln|ENST00000382974|protein_coding|5/16|c.281A>G||||||,G|5_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|3/11|c.-92A>G|||||92|,G|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000444094|nonsense_mediated_decay|4/4|n.*247A>G|||||9548|,G|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|6/17|n.*337A>G|||||13056|,G|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000441501|nonsense_mediated_decay|6/6|n.*412A>G|||||27362|,G|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript||n.-1A>G|||||1973|,G|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000477824|processed_transcript||n.*571A>G|||||26|,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|6/17|n.*337A>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000441501|nonsense_mediated_decay|6/6|n.*412A>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473028|processed_transcript|4/4|n.424A>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000487550|processed_transcript|4/5|n.367A>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476767|retained_intron|3/4|n.334A>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|2/13|n.953A>G|||||| 22 20918794 . A T . . ANN=T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|6/18|c.509A>T|p.Gln170Leu|578/3351|509/2367|170/788||,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000432052|protein_coding|6/6|c.218A>T|p.Gln73Leu|499/598|218/317|73/104||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|5/16|c.176A>T|p.Gln59Leu|376/3041|176/1914|59/637||,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|6/17|c.509A>T|p.Gln170Leu|586/3252|509/2247|170/748||,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|6/17|c.431A>T|p.Gln144Leu|559/3210|431/2169|144/722||,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|5/16|c.296A>T|p.Gln99Leu|334/2235|296/2034|99/677||,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|6/17|c.431A>T|p.Gln144Leu|834/2703|431/2169|144/722||,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000457322|protein_coding|5/5|c.392A>T|p.Gln131Leu|533/623|392/482|131/159||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000428629|protein_coding|4/4|c.155A>T|p.Gln52Leu|481/572|155/246|52/81||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000424287|protein_coding|5/5|c.368A>T|p.Gln123Leu|460/589|368/497|123/164||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000423862|protein_coding|6/7|c.329A>T|p.Gln110Leu|330/581|329/580|110/192||WARNING_TRANSCRIPT_INCOMPLETE,T|splice_region_variant&non_coding_exon_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000441501|nonsense_mediated_decay|6/6|n.*427A>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|3/11|c.-77A>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Poly-Gln|ENST00000263205|protein_coding|6/18|c.509A>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Poly-Gln|ENST00000292733|protein_coding|6/17|c.509A>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Poly-Gln|ENST00000382974|protein_coding|5/16|c.296A>T||||||,T|5_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|3/11|c.-77A>T|||||77|,T|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|6/17|n.*352A>T|||||13071|,T|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000441501|nonsense_mediated_decay|6/6|n.*427A>T|||||27377|,T|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript||n.-1A>T|||||1958|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000444094|nonsense_mediated_decay||n.*303A>T|||||14|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000414658|protein_coding||c.*717A>T|||||7|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000477824|processed_transcript||n.*571A>T|||||41|,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|6/17|n.*352A>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473028|processed_transcript|4/4|n.439A>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000487550|processed_transcript|4/5|n.382A>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476767|retained_intron|3/4|n.349A>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|2/13|n.968A>T|||||| 22 20918987 . C T . . ANN=T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Poly-Gln|ENST00000263205|protein_coding|7/18|c.690+12C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Poly-Gln|ENST00000263205|protein_coding|6/18|c.690+12C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Poly-Gln|ENST00000292733|protein_coding|7/17|c.690+12C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Poly-Gln|ENST00000292733|protein_coding|6/17|c.690+12C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Poly-Gln|ENST00000382974|protein_coding|6/16|c.477+12C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Poly-Gln|ENST00000382974|protein_coding|5/16|c.477+12C>T||||||,T|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript||n.-1C>T|||||1765|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000444094|nonsense_mediated_decay||n.*303C>T|||||207|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000414658|protein_coding||c.*717C>T|||||200|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000432052|protein_coding||c.*598C>T|||||94|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000477824|processed_transcript||n.*571C>T|||||234|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000441501|nonsense_mediated_decay||n.*411C>T|||||191|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473028|processed_transcript||n.*556C>T|||||76|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000457322|protein_coding||c.*623C>T|||||103|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000428629|protein_coding||c.*572C>T|||||102|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000424287|protein_coding||c.*589C>T|||||64|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|6/17|c.690+12C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|6/16|n.*533+12C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|5/15|c.357+12C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|6/16|c.690+12C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|3/10|c.105+12C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|6/16|c.612+12C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|5/15|c.477+12C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|6/16|c.612+12C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000423862|protein_coding|6/6|c.510+12C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000487550|processed_transcript|4/4|n.563+12C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476767|retained_intron|3/3|n.530+12C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|2/12|n.1149+12C>T|||||| 22 20920813 . ACAG A,ACAGCAG,ACAGCAGCAG . . ANN=CAG|inframe_insertion|MODERATE|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|7/18|c.784_786dupCAG|p.Gln262dup|856/3351|787/2367|263/788||INFO_REALIGN_3_PRIME,CAGCAG|inframe_insertion|MODERATE|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|7/18|c.781_786dupCAGCAG|p.Gln261_Gln262dup|856/3351|787/2367|263/788||INFO_REALIGN_3_PRIME,CAG|inframe_insertion|MODERATE|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|6/16|c.451_453dupCAG|p.Gln151dup|654/3041|454/1914|152/637||INFO_REALIGN_3_PRIME,CAGCAG|inframe_insertion|MODERATE|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|6/16|c.448_453dupCAGCAG|p.Gln150_Gln151dup|654/3041|454/1914|152/637||INFO_REALIGN_3_PRIME,CAG|inframe_insertion|MODERATE|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|7/17|c.784_786dupCAG|p.Gln262dup|864/3252|787/2247|263/748||INFO_REALIGN_3_PRIME,CAGCAG|inframe_insertion|MODERATE|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|7/17|c.781_786dupCAGCAG|p.Gln261_Gln262dup|864/3252|787/2247|263/748||INFO_REALIGN_3_PRIME,CAG|inframe_insertion|MODERATE|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|4/11|c.199_201dupCAG|p.Gln67dup|567/2149|202/570|68/189||INFO_REALIGN_3_PRIME,CAGCAG|inframe_insertion|MODERATE|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|4/11|c.196_201dupCAGCAG|p.Gln66_Gln67dup|567/2149|202/570|68/189||INFO_REALIGN_3_PRIME,CAG|inframe_insertion|MODERATE|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|7/17|c.706_708dupCAG|p.Gln236dup|837/3210|709/2169|237/722||INFO_REALIGN_3_PRIME,CAGCAG|inframe_insertion|MODERATE|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|7/17|c.703_708dupCAGCAG|p.Gln235_Gln236dup|837/3210|709/2169|237/722||INFO_REALIGN_3_PRIME,CAG|inframe_insertion|MODERATE|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|6/16|c.571_573dupCAG|p.Gln191dup|612/2235|574/2034|192/677||INFO_REALIGN_3_PRIME,CAGCAG|inframe_insertion|MODERATE|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|6/16|c.568_573dupCAGCAG|p.Gln190_Gln191dup|612/2235|574/2034|192/677||INFO_REALIGN_3_PRIME,CAG|inframe_insertion|MODERATE|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|7/17|c.706_708dupCAG|p.Gln236dup|1112/2703|709/2169|237/722||INFO_REALIGN_3_PRIME,CAGCAG|inframe_insertion|MODERATE|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|7/17|c.703_708dupCAGCAG|p.Gln235_Gln236dup|1112/2703|709/2169|237/722||INFO_REALIGN_3_PRIME,|inframe_deletion|MODERATE|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|7/18|c.784_786delCAG|p.Gln262del|853/3351|784/2367|262/788||INFO_REALIGN_3_PRIME,|inframe_deletion|MODERATE|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|6/16|c.451_453delCAG|p.Gln151del|651/3041|451/1914|151/637||INFO_REALIGN_3_PRIME,|inframe_deletion|MODERATE|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|7/17|c.784_786delCAG|p.Gln262del|861/3252|784/2247|262/748||INFO_REALIGN_3_PRIME,|inframe_deletion|MODERATE|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|4/11|c.199_201delCAG|p.Gln67del|564/2149|199/570|67/189||INFO_REALIGN_3_PRIME,|inframe_deletion|MODERATE|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|7/17|c.706_708delCAG|p.Gln236del|834/3210|706/2169|236/722||INFO_REALIGN_3_PRIME,|inframe_deletion|MODERATE|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|6/16|c.571_573delCAG|p.Gln191del|609/2235|571/2034|191/677||INFO_REALIGN_3_PRIME,|inframe_deletion|MODERATE|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|7/17|c.706_708delCAG|p.Gln236del|1109/2703|706/2169|236/722||INFO_REALIGN_3_PRIME,|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Poly-Gln|ENST00000263205|protein_coding|7/18|c.751_753delCAG||||||,CAG|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Poly-Gln|ENST00000263205|protein_coding|7/18|c.751_753dupCAG||||||,CAGCAG|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Poly-Gln|ENST00000263205|protein_coding|7/18|c.753_754insCAGCAG||||||,|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Poly-Gln|ENST00000292733|protein_coding|7/17|c.751_753delCAG||||||,CAG|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Poly-Gln|ENST00000292733|protein_coding|7/17|c.751_753dupCAG||||||,CAGCAG|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Poly-Gln|ENST00000292733|protein_coding|7/17|c.753_754insCAGCAG||||||,|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Poly-Gln|ENST00000382974|protein_coding|6/16|c.538_540delCAG||||||,CAG|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Poly-Gln|ENST00000382974|protein_coding|6/16|c.538_540dupCAG||||||,CAGCAG|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Poly-Gln|ENST00000382974|protein_coding|6/16|c.540_541insCAGCAG||||||,|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|7/17|n.*627_*629delCAG|||||15124|INFO_REALIGN_3_PRIME,CAG|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|7/17|n.*627_*629dupCAG|||||15127|INFO_REALIGN_3_PRIME,CAGCAG|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|7/17|n.*624_*629dupCAGCAG|||||15127|INFO_REALIGN_3_PRIME,|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000444094|nonsense_mediated_decay||n.*303_*303delCAG|||||2034|,CAG|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000444094|nonsense_mediated_decay||n.*303_*303dupCAG|||||2037|,CAGCAG|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000444094|nonsense_mediated_decay||n.*303_*303insCAGCAG|||||2037|,|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000414658|protein_coding||c.*717_*717delCAG|||||2027|WARNING_TRANSCRIPT_INCOMPLETE,CAG|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000414658|protein_coding||c.*717_*717dupCAG|||||2030|WARNING_TRANSCRIPT_INCOMPLETE,CAGCAG|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000414658|protein_coding||c.*717_*717insCAGCAG|||||2030|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000432052|protein_coding||c.*598_*598delCAG|||||1921|WARNING_TRANSCRIPT_INCOMPLETE,CAG|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000432052|protein_coding||c.*598_*598dupCAG|||||1924|WARNING_TRANSCRIPT_INCOMPLETE,CAGCAG|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000432052|protein_coding||c.*598_*598insCAGCAG|||||1924|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000477824|processed_transcript||n.*571_*571delCAG|||||2061|,CAG|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000477824|processed_transcript||n.*571_*571dupCAG|||||2064|,CAGCAG|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000477824|processed_transcript||n.*571_*571insCAGCAG|||||2064|,|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000441501|nonsense_mediated_decay||n.*411_*411delCAG|||||2018|,CAG|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000441501|nonsense_mediated_decay||n.*411_*411dupCAG|||||2021|,CAGCAG|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000441501|nonsense_mediated_decay||n.*411_*411insCAGCAG|||||2021|,|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473028|processed_transcript||n.*556_*556delCAG|||||1903|,CAG|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473028|processed_transcript||n.*556_*556dupCAG|||||1906|,CAGCAG|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473028|processed_transcript||n.*556_*556insCAGCAG|||||1906|,|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000457322|protein_coding||c.*623_*623delCAG|||||1930|WARNING_TRANSCRIPT_INCOMPLETE,CAG|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000457322|protein_coding||c.*623_*623dupCAG|||||1933|WARNING_TRANSCRIPT_INCOMPLETE,CAGCAG|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000457322|protein_coding||c.*623_*623insCAGCAG|||||1933|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000428629|protein_coding||c.*572_*572delCAG|||||1929|WARNING_TRANSCRIPT_NO_STOP_CODON,CAG|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000428629|protein_coding||c.*572_*572dupCAG|||||1932|WARNING_TRANSCRIPT_NO_STOP_CODON,CAGCAG|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000428629|protein_coding||c.*572_*572insCAGCAG|||||1932|WARNING_TRANSCRIPT_NO_STOP_CODON,|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000424287|protein_coding||c.*589_*589delCAG|||||1891|WARNING_TRANSCRIPT_INCOMPLETE,CAG|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000424287|protein_coding||c.*589_*589dupCAG|||||1894|WARNING_TRANSCRIPT_INCOMPLETE,CAGCAG|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000424287|protein_coding||c.*589_*589insCAGCAG|||||1894|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000487550|processed_transcript||n.*587_*587delCAG|||||37|,CAG|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000487550|processed_transcript||n.*587_*587dupCAG|||||40|,CAGCAG|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000487550|processed_transcript||n.*587_*587insCAGCAG|||||40|,|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476767|retained_intron||n.*590_*590delCAG|||||1|,CAG|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476767|retained_intron||n.*590_*590dupCAG|||||4|,CAGCAG|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476767|retained_intron||n.*590_*590insCAGCAG|||||4|,|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|7/17|n.*627_*629delCAG||||||INFO_REALIGN_3_PRIME,CAG|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|7/17|n.*627_*629dupCAG||||||INFO_REALIGN_3_PRIME,CAGCAG|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|7/17|n.*624_*629dupCAGCAG||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|3/13|n.1243_1245delCAG||||||INFO_REALIGN_3_PRIME,CAG|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|3/13|n.1243_1245dupCAG||||||INFO_REALIGN_3_PRIME,CAGCAG|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|3/13|n.1240_1245dupCAGCAG||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript|1/4|n.96_98delCAG||||||INFO_REALIGN_3_PRIME,CAG|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript|1/4|n.96_98dupCAG||||||INFO_REALIGN_3_PRIME,CAGCAG|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript|1/4|n.93_98dupCAGCAG||||||INFO_REALIGN_3_PRIME 22 20920906 . G T . . ANN=T|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|7/18|c.843G>T|p.Pro281Pro|912/3351|843/2367|281/788||,T|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|6/16|c.510G>T|p.Pro170Pro|710/3041|510/1914|170/637||,T|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|7/17|c.843G>T|p.Pro281Pro|920/3252|843/2247|281/748||,T|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|4/11|c.258G>T|p.Pro86Pro|623/2149|258/570|86/189||,T|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|7/17|c.765G>T|p.Pro255Pro|893/3210|765/2169|255/722||,T|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|6/16|c.630G>T|p.Pro210Pro|668/2235|630/2034|210/677||,T|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|7/17|c.765G>T|p.Pro255Pro|1168/2703|765/2169|255/722||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|11/18|c.843G>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|9/18|c.843G>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|8/18|c.843G>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|7/18|c.843G>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|10/18|c.843G>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|12/18|c.843G>T||||||,T|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|7/17|n.*686G>T|||||15183|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000444094|nonsense_mediated_decay||n.*303G>T|||||2126|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000414658|protein_coding||c.*717G>T|||||2119|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000432052|protein_coding||c.*598G>T|||||2013|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000477824|processed_transcript||n.*571G>T|||||2153|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000441501|nonsense_mediated_decay||n.*411G>T|||||2110|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473028|processed_transcript||n.*556G>T|||||1995|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000457322|protein_coding||c.*623G>T|||||2022|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000428629|protein_coding||c.*572G>T|||||2021|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000424287|protein_coding||c.*589G>T|||||1983|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000423862|protein_coding||c.*581G>T|||||83|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000487550|processed_transcript||n.*587G>T|||||129|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476767|retained_intron||n.*590G>T|||||93|,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|7/17|n.*686G>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|3/13|n.1302G>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript|1/4|n.155G>T|||||| 22 20921025 . A G . . ANN=G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|7/18|c.962A>G|p.Gln321Arg|1031/3351|962/2367|321/788||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|6/16|c.629A>G|p.Gln210Arg|829/3041|629/1914|210/637||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|7/17|c.962A>G|p.Gln321Arg|1039/3252|962/2247|321/748||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|4/11|c.377A>G|p.Gln126Arg|742/2149|377/570|126/189||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|7/17|c.884A>G|p.Gln295Arg|1012/3210|884/2169|295/722||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|6/16|c.749A>G|p.Gln250Arg|787/2235|749/2034|250/677||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|7/17|c.884A>G|p.Gln295Arg|1287/2703|884/2169|295/722||,G|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|11/18|c.962A>G||||||,G|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|9/18|c.962A>G||||||,G|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|8/18|c.962A>G||||||,G|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|7/18|c.962A>G||||||,G|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|10/18|c.962A>G||||||,G|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|12/18|c.962A>G||||||,G|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|7/17|n.*805A>G|||||15302|,G|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000444094|nonsense_mediated_decay||n.*303A>G|||||2245|,G|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000414658|protein_coding||c.*717A>G|||||2238|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000432052|protein_coding||c.*598A>G|||||2132|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000477824|processed_transcript||n.*571A>G|||||2272|,G|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000441501|nonsense_mediated_decay||n.*411A>G|||||2229|,G|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473028|processed_transcript||n.*556A>G|||||2114|,G|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000457322|protein_coding||c.*623A>G|||||2141|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000428629|protein_coding||c.*572A>G|||||2140|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000424287|protein_coding||c.*589A>G|||||2102|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000423862|protein_coding||c.*581A>G|||||202|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000487550|processed_transcript||n.*587A>G|||||248|,G|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476767|retained_intron||n.*590A>G|||||212|,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|7/17|n.*805A>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|3/13|n.1421A>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript|1/4|n.274A>G|||||| 22 20922898 . A C . . ANN=C|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|8/18|c.1132A>C|p.Met378Leu|1201/3351|1132/2367|378/788||,C|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|7/16|c.799A>C|p.Met267Leu|999/3041|799/1914|267/637||,C|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|8/17|c.1132A>C|p.Met378Leu|1209/3252|1132/2247|378/748||,C|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|5/11|c.547A>C|p.Met183Leu|912/2149|547/570|183/189||,C|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|8/17|c.1054A>C|p.Met352Leu|1182/3210|1054/2169|352/722||,C|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|7/16|c.919A>C|p.Met307Leu|957/2235|919/2034|307/677||,C|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|8/17|c.1054A>C|p.Met352Leu|1457/2703|1054/2169|352/722||,C|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|11/18|c.1132A>C||||||,C|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|9/18|c.1132A>C||||||,C|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|8/18|c.1132A>C||||||,C|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|7/18|c.1132A>C||||||,C|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|10/18|c.1132A>C||||||,C|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|12/18|c.1132A>C||||||,C|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|8/17|n.*975A>C|||||17175|,C|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000444094|nonsense_mediated_decay||n.*303A>C|||||4118|,C|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000414658|protein_coding||c.*717A>C|||||4111|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000432052|protein_coding||c.*598A>C|||||4005|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000477824|processed_transcript||n.*571A>C|||||4145|,C|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000441501|nonsense_mediated_decay||n.*411A>C|||||4102|,C|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473028|processed_transcript||n.*556A>C|||||3987|,C|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000457322|protein_coding||c.*623A>C|||||4014|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000428629|protein_coding||c.*572A>C|||||4013|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000424287|protein_coding||c.*589A>C|||||3975|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000423862|protein_coding||c.*581A>C|||||2075|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000487550|processed_transcript||n.*587A>C|||||2121|,C|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476767|retained_intron||n.*590A>C|||||2085|,C|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|8/17|n.*975A>C||||||,C|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|4/13|n.1591A>C||||||,C|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript|2/4|n.444A>C|||||| 22 20922926 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|8/17|c.1152+8C>T||||||,T|splice_region_variant&intron_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|8/16|n.*995+8C>T||||||,T|splice_region_variant&intron_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|7/15|c.819+8C>T||||||,T|splice_region_variant&intron_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|8/16|c.1152+8C>T||||||,T|splice_region_variant&intron_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|5/10|c.567+8C>T||||||,T|splice_region_variant&intron_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|8/16|c.1074+8C>T||||||,T|splice_region_variant&intron_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|7/15|c.939+8C>T||||||,T|splice_region_variant&intron_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|8/16|c.1074+8C>T||||||,T|splice_region_variant&intron_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|4/12|n.1611+8C>T||||||,T|splice_region_variant&intron_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript|2/3|n.464+8C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|11/18|c.1152+8C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|9/18|c.1152+8C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|8/18|c.1152+8C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|7/18|c.1152+8C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|10/18|c.1152+8C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|12/18|c.1152+8C>T||||||,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000444094|nonsense_mediated_decay||n.*303C>T|||||4146|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000414658|protein_coding||c.*717C>T|||||4139|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000432052|protein_coding||c.*598C>T|||||4033|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000477824|processed_transcript||n.*571C>T|||||4173|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000441501|nonsense_mediated_decay||n.*411C>T|||||4130|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473028|processed_transcript||n.*556C>T|||||4015|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000457322|protein_coding||c.*623C>T|||||4042|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000428629|protein_coding||c.*572C>T|||||4041|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000424287|protein_coding||c.*589C>T|||||4003|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000423862|protein_coding||c.*581C>T|||||2103|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000487550|processed_transcript||n.*587C>T|||||2149|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476767|retained_intron||n.*590C>T|||||2113| 22 20929453 . G T . . ANN=T|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|9/18|c.1206G>T|p.Pro402Pro|1275/3351|1206/2367|402/788||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|11/18|c.1206G>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|9/18|c.1206G>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|8/18|c.1206G>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|7/18|c.1206G>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|10/18|c.1206G>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|12/18|c.1206G>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|8/16|n.*995+6535G>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|7/15|c.819+6535G>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|8/16|c.1152+6535G>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|5/10|c.567+6535G>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|8/16|c.1074+6535G>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|7/15|c.939+6535G>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|8/16|c.1074+6535G>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|4/12|n.1611+6535G>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript|2/3|n.464+6535G>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000489651|retained_intron|1/10|n.1489G>T|||||| 22 20929528 . G A . . ANN=A|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|11/18|c.1272+9G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|9/18|c.1272+9G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|8/18|c.1272+9G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|7/18|c.1272+9G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|10/18|c.1272+9G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|12/18|c.1272+9G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|9/17|c.1272+9G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|8/16|n.*995+6610G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|7/15|c.819+6610G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|8/16|c.1152+6610G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|5/10|c.567+6610G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|8/16|c.1074+6610G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|7/15|c.939+6610G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|8/16|c.1074+6610G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|4/12|n.1611+6610G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript|2/3|n.464+6610G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000489651|retained_intron|1/9|n.1555+9G>A|||||| 22 20936852 . C T . . ANN=T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|11/18|c.1273-46C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|9/18|c.1273-46C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|8/18|c.1273-46C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|7/18|c.1273-46C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|10/18|c.1273-46C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|12/18|c.1273-46C>T||||||,T|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476187|retained_intron||n.-1C>T|||||365|,T|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000461076|retained_intron||n.-1C>T|||||773|,T|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000436496|retained_intron||n.-1C>T|||||2381|,T|downstream_gene_variant|MODIFIER|AC007050.18|ENSG00000250261|transcript|ENST00000508880|unprocessed_pseudogene||n.*1123G>A|||||4931|,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|9/17|c.1273-46C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|8/16|n.*996-46C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|7/15|c.820-46C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|8/16|c.1153-46C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|5/10|c.568-548C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|8/16|c.1075-46C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|7/15|c.940-46C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|8/16|c.1075-46C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|4/12|n.1612-46C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript|2/3|n.465-275C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000489651|retained_intron|1/9|n.1556-46C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473244|retained_intron|1/9|n.665C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000493216|retained_intron|1/3|n.472C>T|||||| 22 20936873 . G A . . ANN=A|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|11/18|c.1273-25G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|9/18|c.1273-25G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|8/18|c.1273-25G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|7/18|c.1273-25G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|10/18|c.1273-25G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|12/18|c.1273-25G>A||||||,A|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476187|retained_intron||n.-1G>A|||||344|,A|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000461076|retained_intron||n.-1G>A|||||752|,A|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000436496|retained_intron||n.-1G>A|||||2360|,A|downstream_gene_variant|MODIFIER|AC007050.18|ENSG00000250261|transcript|ENST00000508880|unprocessed_pseudogene||n.*1123C>T|||||4910|,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|9/17|c.1273-25G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|8/16|n.*996-25G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|7/15|c.820-25G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|8/16|c.1153-25G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|5/10|c.568-527G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|8/16|c.1075-25G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|7/15|c.940-25G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|8/16|c.1075-25G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|4/12|n.1612-25G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript|2/3|n.465-254G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000489651|retained_intron|1/9|n.1556-25G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473244|retained_intron|1/9|n.686G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000493216|retained_intron|1/3|n.493G>A|||||| 22 20936980 . C G . . ANN=G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|10/18|c.1355C>G|p.Pro452Arg|1424/3351|1355/2367|452/788||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|8/16|c.902C>G|p.Pro301Arg|1102/3041|902/1914|301/637||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|9/17|c.1235C>G|p.Pro412Arg|1312/3252|1235/2247|412/748||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|9/17|c.1157C>G|p.Pro386Arg|1285/3210|1157/2169|386/722||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|8/16|c.1022C>G|p.Pro341Arg|1060/2235|1022/2034|341/677||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|9/17|c.1157C>G|p.Pro386Arg|1560/2703|1157/2169|386/722||,G|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|11/18|c.1355C>G||||||,G|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|9/18|c.1355C>G||||||,G|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|8/18|c.1355C>G||||||,G|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|7/18|c.1355C>G||||||,G|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|10/18|c.1355C>G||||||,G|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|12/18|c.1355C>G||||||,G|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Poly-Pro|ENST00000263205|protein_coding|10/18|c.1355C>G||||||,G|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Poly-Pro|ENST00000292733|protein_coding|9/17|c.1235C>G||||||,G|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Poly-Pro|ENST00000382974|protein_coding|8/16|c.1022C>G||||||,G|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|9/17|n.*1078C>G|||||31257|,G|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476187|retained_intron||n.-1C>G|||||237|,G|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000461076|retained_intron||n.-1C>G|||||645|,G|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000436496|retained_intron||n.-1C>G|||||2253|,G|downstream_gene_variant|MODIFIER|AC007050.18|ENSG00000250261|transcript|ENST00000508880|unprocessed_pseudogene||n.*1123G>C|||||4803|,G|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|5/10|c.568-420C>G||||||,G|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript|2/3|n.465-147C>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|9/17|n.*1078C>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|5/13|n.1694C>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000489651|retained_intron|2/10|n.1638C>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473244|retained_intron|1/9|n.793C>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000493216|retained_intron|1/3|n.600C>G|||||| 22 20936993 . G A . . ANN=A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|10/18|c.1368G>A|p.Pro456Pro|1437/3351|1368/2367|456/788||,A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|8/16|c.915G>A|p.Pro305Pro|1115/3041|915/1914|305/637||,A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|9/17|c.1248G>A|p.Pro416Pro|1325/3252|1248/2247|416/748||,A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|9/17|c.1170G>A|p.Pro390Pro|1298/3210|1170/2169|390/722||,A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|8/16|c.1035G>A|p.Pro345Pro|1073/2235|1035/2034|345/677||,A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|9/17|c.1170G>A|p.Pro390Pro|1573/2703|1170/2169|390/722||,A|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|11/18|c.1368G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|9/18|c.1368G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|8/18|c.1368G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|7/18|c.1368G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|10/18|c.1368G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|12/18|c.1368G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Poly-Pro|ENST00000263205|protein_coding|10/18|c.1368G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Poly-Pro|ENST00000292733|protein_coding|9/17|c.1248G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Poly-Pro|ENST00000382974|protein_coding|8/16|c.1035G>A||||||,A|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|9/17|n.*1091G>A|||||31270|,A|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476187|retained_intron||n.-1G>A|||||224|,A|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000461076|retained_intron||n.-1G>A|||||632|,A|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000436496|retained_intron||n.-1G>A|||||2240|,A|downstream_gene_variant|MODIFIER|AC007050.18|ENSG00000250261|transcript|ENST00000508880|unprocessed_pseudogene||n.*1123C>T|||||4790|,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|5/10|c.568-407G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript|2/3|n.465-134G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|9/17|n.*1091G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|5/13|n.1707G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000489651|retained_intron|2/10|n.1651G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473244|retained_intron|1/9|n.806G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000493216|retained_intron|1/3|n.613G>A|||||| 22 20937074 . G A . . ANN=A|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|11/18|c.1409+40G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|9/18|c.1409+40G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|8/18|c.1409+40G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|7/18|c.1409+40G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|10/18|c.1409+40G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|12/18|c.1409+40G>A||||||,A|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476187|retained_intron||n.-1G>A|||||143|,A|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000461076|retained_intron||n.-1G>A|||||551|,A|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000436496|retained_intron||n.-1G>A|||||2159|,A|downstream_gene_variant|MODIFIER|AC007050.18|ENSG00000250261|transcript|ENST00000508880|unprocessed_pseudogene||n.*1123C>T|||||4709|,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|10/17|c.1409+40G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|9/16|n.*1132+40G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|8/15|c.956+40G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|9/16|c.1289+40G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|5/10|c.568-326G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|9/16|c.1211+40G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|8/15|c.1076+40G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|9/16|c.1211+40G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|5/12|n.1748+40G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript|2/3|n.465-53G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000489651|retained_intron|2/9|n.1692+40G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473244|retained_intron|1/8|n.847+40G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000493216|retained_intron|1/3|n.694G>A|||||| 22 20937175 . G A . . ANN=A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|11/18|c.1458G>A|p.Pro486Pro|1527/3351|1458/2367|486/788||,A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|9/16|c.1005G>A|p.Pro335Pro|1205/3041|1005/1914|335/637||,A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|10/17|c.1338G>A|p.Pro446Pro|1415/3252|1338/2247|446/748||,A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|10/17|c.1260G>A|p.Pro420Pro|1388/3210|1260/2169|420/722||,A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|9/16|c.1125G>A|p.Pro375Pro|1163/2235|1125/2034|375/677||,A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|10/17|c.1260G>A|p.Pro420Pro|1663/2703|1260/2169|420/722||,A|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|11/18|c.1458G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|9/18|c.1458G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|8/18|c.1458G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|7/18|c.1458G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|10/18|c.1458G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|12/18|c.1458G>A||||||,A|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|10/17|n.*1181G>A|||||31452|,A|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476187|retained_intron||n.-1G>A|||||42|,A|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000461076|retained_intron||n.-1G>A|||||450|,A|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000436496|retained_intron||n.-1G>A|||||2058|,A|downstream_gene_variant|MODIFIER|AC007050.18|ENSG00000250261|transcript|ENST00000508880|unprocessed_pseudogene||n.*1123C>T|||||4608|,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|5/10|c.568-225G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|10/17|n.*1181G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|6/13|n.1797G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript|3/4|n.513G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000489651|retained_intron|3/10|n.1741G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473244|retained_intron|2/9|n.896G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000493216|retained_intron|1/3|n.795G>A|||||| 22 20937201 . C T . . ANN=T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|11/18|c.1484C>T|p.Ala495Val|1553/3351|1484/2367|495/788||,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|9/16|c.1031C>T|p.Ala344Val|1231/3041|1031/1914|344/637||,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|10/17|c.1364C>T|p.Ala455Val|1441/3252|1364/2247|455/748||,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|10/17|c.1286C>T|p.Ala429Val|1414/3210|1286/2169|429/722||,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|9/16|c.1151C>T|p.Ala384Val|1189/2235|1151/2034|384/677||,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|10/17|c.1286C>T|p.Ala429Val|1689/2703|1286/2169|429/722||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|11/18|c.1484C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|9/18|c.1484C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|8/18|c.1484C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|7/18|c.1484C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|10/18|c.1484C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|12/18|c.1484C>T||||||,T|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|10/17|n.*1207C>T|||||31478|,T|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476187|retained_intron||n.-1C>T|||||16|,T|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000461076|retained_intron||n.-1C>T|||||424|,T|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000436496|retained_intron||n.-1C>T|||||2032|,T|downstream_gene_variant|MODIFIER|AC007050.18|ENSG00000250261|transcript|ENST00000508880|unprocessed_pseudogene||n.*1123G>A|||||4582|,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|5/10|c.568-199C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|10/17|n.*1207C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|6/13|n.1823C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript|3/4|n.539C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000489651|retained_intron|3/10|n.1767C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473244|retained_intron|2/9|n.922C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000493216|retained_intron|1/3|n.821C>T|||||| 22 20937202 . G A . . ANN=A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|11/18|c.1485G>A|p.Ala495Ala|1554/3351|1485/2367|495/788||,A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|9/16|c.1032G>A|p.Ala344Ala|1232/3041|1032/1914|344/637||,A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|10/17|c.1365G>A|p.Ala455Ala|1442/3252|1365/2247|455/748||,A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|10/17|c.1287G>A|p.Ala429Ala|1415/3210|1287/2169|429/722||,A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|9/16|c.1152G>A|p.Ala384Ala|1190/2235|1152/2034|384/677||,A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|10/17|c.1287G>A|p.Ala429Ala|1690/2703|1287/2169|429/722||,A|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|11/18|c.1485G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|9/18|c.1485G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|8/18|c.1485G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|7/18|c.1485G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|10/18|c.1485G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|12/18|c.1485G>A||||||,A|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|10/17|n.*1208G>A|||||31479|,A|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476187|retained_intron||n.-1G>A|||||15|,A|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000461076|retained_intron||n.-1G>A|||||423|,A|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000436496|retained_intron||n.-1G>A|||||2031|,A|downstream_gene_variant|MODIFIER|AC007050.18|ENSG00000250261|transcript|ENST00000508880|unprocessed_pseudogene||n.*1123C>T|||||4581|,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|5/10|c.568-198G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|10/17|n.*1208G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|6/13|n.1824G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript|3/4|n.540G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000489651|retained_intron|3/10|n.1768G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473244|retained_intron|2/9|n.923G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000493216|retained_intron|1/3|n.822G>A|||||| 22 20937204 . G A . . ANN=A|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|11/18|c.1487G>A|p.Arg496Gln|1556/3351|1487/2367|496/788||,A|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|9/16|c.1034G>A|p.Arg345Gln|1234/3041|1034/1914|345/637||,A|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|10/17|c.1367G>A|p.Arg456Gln|1444/3252|1367/2247|456/748||,A|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|10/17|c.1289G>A|p.Arg430Gln|1417/3210|1289/2169|430/722||,A|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|9/16|c.1154G>A|p.Arg385Gln|1192/2235|1154/2034|385/677||,A|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|10/17|c.1289G>A|p.Arg430Gln|1692/2703|1289/2169|430/722||,A|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|11/18|c.1487G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|9/18|c.1487G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|8/18|c.1487G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|7/18|c.1487G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|10/18|c.1487G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|12/18|c.1487G>A||||||,A|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|10/17|n.*1210G>A|||||31481|,A|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476187|retained_intron||n.-1G>A|||||13|,A|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000461076|retained_intron||n.-1G>A|||||421|,A|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000436496|retained_intron||n.-1G>A|||||2029|,A|downstream_gene_variant|MODIFIER|AC007050.18|ENSG00000250261|transcript|ENST00000508880|unprocessed_pseudogene||n.*1123C>T|||||4579|,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|5/10|c.568-196G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|10/17|n.*1210G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|6/13|n.1826G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript|3/4|n.542G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000489651|retained_intron|3/10|n.1770G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473244|retained_intron|2/9|n.925G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000493216|retained_intron|1/3|n.824G>A|||||| 22 20937350 . T TC . . ANN=C|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|11/18|c.1538-50_1538-49insC||||||,C|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|9/18|c.1538-50_1538-49insC||||||,C|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|8/18|c.1538-50_1538-49insC||||||,C|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|7/18|c.1538-50_1538-49insC||||||,C|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|10/18|c.1538-50_1538-49insC||||||,C|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|12/18|c.1538-50_1538-49insC||||||,C|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000461076|retained_intron||n.-1_-1insC|||||274|,C|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000436496|retained_intron||n.-1_-1insC|||||1882|,C|downstream_gene_variant|MODIFIER|AC007050.18|ENSG00000250261|transcript|ENST00000508880|unprocessed_pseudogene||n.*1123dupG|||||4432|,C|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|11/17|c.1538-46dupC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|10/16|n.*1261-46dupC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|9/15|c.1085-46dupC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|10/16|c.1418-46dupC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|5/10|c.568-46dupC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|10/16|c.1340-46dupC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|9/15|c.1205-46dupC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|10/16|c.1340-46dupC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|6/12|n.1877-46dupC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript|3/3|n.593-46dupC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000489651|retained_intron|3/9|n.1821-46dupC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473244|retained_intron|2/8|n.976-46dupC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476187|retained_intron|1/2|n.39-46dupC||||||INFO_REALIGN_3_PRIME,C|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000493216|retained_intron|1/3|n.974dupC||||||INFO_REALIGN_3_PRIME 22 20937358 . C T . . ANN=T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|11/18|c.1538-42C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|9/18|c.1538-42C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|8/18|c.1538-42C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|7/18|c.1538-42C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|10/18|c.1538-42C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|12/18|c.1538-42C>T||||||,T|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000461076|retained_intron||n.-1C>T|||||267|,T|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000436496|retained_intron||n.-1C>T|||||1875|,T|downstream_gene_variant|MODIFIER|AC007050.18|ENSG00000250261|transcript|ENST00000508880|unprocessed_pseudogene||n.*1123G>A|||||4425|,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|11/17|c.1538-42C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|10/16|n.*1261-42C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|9/15|c.1085-42C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|10/16|c.1418-42C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|5/10|c.568-42C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|10/16|c.1340-42C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|9/15|c.1205-42C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|10/16|c.1340-42C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|6/12|n.1877-42C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript|3/3|n.593-42C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000489651|retained_intron|3/9|n.1821-42C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473244|retained_intron|2/8|n.976-42C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476187|retained_intron|1/2|n.39-42C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000493216|retained_intron|1/3|n.978C>T|||||| 22 20937386 . C T . . ANN=T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|11/18|c.1538-14C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|9/18|c.1538-14C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|8/18|c.1538-14C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|7/18|c.1538-14C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|10/18|c.1538-14C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|12/18|c.1538-14C>T||||||,T|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000461076|retained_intron||n.-1C>T|||||239|,T|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000436496|retained_intron||n.-1C>T|||||1847|,T|downstream_gene_variant|MODIFIER|AC007050.18|ENSG00000250261|transcript|ENST00000508880|unprocessed_pseudogene||n.*1123G>A|||||4397|,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|11/17|c.1538-14C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|10/16|n.*1261-14C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|9/15|c.1085-14C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|10/16|c.1418-14C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|5/10|c.568-14C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|10/16|c.1340-14C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|9/15|c.1205-14C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|10/16|c.1340-14C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|6/12|n.1877-14C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript|3/3|n.593-14C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000489651|retained_intron|3/9|n.1821-14C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473244|retained_intron|2/8|n.976-14C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476187|retained_intron|1/2|n.39-14C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000493216|retained_intron|1/3|n.1006C>T|||||| 22 20937513 . A G . . ANN=G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|12/18|c.1651A>G|p.Asn551Asp|1720/3351|1651/2367|551/788||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|10/16|c.1198A>G|p.Asn400Asp|1398/3041|1198/1914|400/637||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|11/17|c.1531A>G|p.Asn511Asp|1608/3252|1531/2247|511/748||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|11/17|c.1453A>G|p.Asn485Asp|1581/3210|1453/2169|485/722||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|10/16|c.1318A>G|p.Asn440Asp|1356/2235|1318/2034|440/677||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|11/17|c.1453A>G|p.Asn485Asp|1856/2703|1453/2169|485/722||,G|splice_region_variant&non_coding_exon_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript|4/4|n.706A>G||||||,G|sequence_feature|LOW|MED15|ENSG00000099917|short_sequence_motif:Nuclear_localization_signal|ENST00000263205|protein_coding|13/18|c.1651A>G||||||,G|sequence_feature|LOW|MED15|ENSG00000099917|short_sequence_motif:Nuclear_localization_signal|ENST00000263205|protein_coding|12/18|c.1651A>G||||||,G|sequence_feature|LOW|MED15|ENSG00000099917|short_sequence_motif:Nuclear_localization_signal|ENST00000292733|protein_coding|12/17|c.1531A>G||||||,G|sequence_feature|LOW|MED15|ENSG00000099917|short_sequence_motif:Nuclear_localization_signal|ENST00000292733|protein_coding|11/17|c.1531A>G||||||,G|sequence_feature|LOW|MED15|ENSG00000099917|short_sequence_motif:Nuclear_localization_signal|ENST00000382974|protein_coding|11/16|c.1318A>G||||||,G|sequence_feature|LOW|MED15|ENSG00000099917|short_sequence_motif:Nuclear_localization_signal|ENST00000382974|protein_coding|10/16|c.1318A>G||||||,G|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|11/17|n.*1374A>G|||||31790|,G|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|6/11|c.*111A>G|||||111|,G|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000461076|retained_intron||n.-1A>G|||||112|,G|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000436496|retained_intron||n.-1A>G|||||1720|,G|downstream_gene_variant|MODIFIER|AC007050.18|ENSG00000250261|transcript|ENST00000508880|unprocessed_pseudogene||n.*1123T>C|||||4270|,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|11/17|n.*1374A>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|7/13|n.1990A>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000489651|retained_intron|4/10|n.1934A>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473244|retained_intron|3/9|n.1089A>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000493216|retained_intron|1/3|n.1133A>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476187|retained_intron|2/3|n.152A>G|||||| 22 20937564 . C T . . ANN=T|sequence_feature|LOW|MED15|ENSG00000099917|short_sequence_motif:Nuclear_localization_signal|ENST00000263205|protein_coding|13/18|c.1672+30C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|short_sequence_motif:Nuclear_localization_signal|ENST00000263205|protein_coding|12/18|c.1672+30C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|short_sequence_motif:Nuclear_localization_signal|ENST00000292733|protein_coding|12/17|c.1552+30C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|short_sequence_motif:Nuclear_localization_signal|ENST00000292733|protein_coding|11/17|c.1552+30C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|short_sequence_motif:Nuclear_localization_signal|ENST00000382974|protein_coding|11/16|c.1339+30C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|short_sequence_motif:Nuclear_localization_signal|ENST00000382974|protein_coding|10/16|c.1339+30C>T||||||,T|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000461076|retained_intron||n.-1C>T|||||61|,T|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000436496|retained_intron||n.-1C>T|||||1669|,T|downstream_gene_variant|MODIFIER|AC007050.18|ENSG00000250261|transcript|ENST00000508880|unprocessed_pseudogene||n.*1123G>A|||||4219|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript||n.*707C>T|||||50|,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|12/17|c.1672+30C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|11/16|n.*1395+30C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|10/15|c.1219+30C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|11/16|c.1552+30C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|6/10|c.*132+30C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|11/16|c.1474+30C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|10/15|c.1339+30C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|11/16|c.1474+30C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|7/12|n.2011+30C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000489651|retained_intron|4/9|n.1955+30C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473244|retained_intron|3/8|n.1110+30C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000493216|retained_intron|1/2|n.1154+30C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476187|retained_intron|2/2|n.173+30C>T|||||| 22 20937601 . C T . . ANN=T|sequence_feature|LOW|MED15|ENSG00000099917|short_sequence_motif:Nuclear_localization_signal|ENST00000263205|protein_coding|13/18|c.1673-16C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|short_sequence_motif:Nuclear_localization_signal|ENST00000263205|protein_coding|12/18|c.1673-16C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|short_sequence_motif:Nuclear_localization_signal|ENST00000292733|protein_coding|12/17|c.1553-16C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|short_sequence_motif:Nuclear_localization_signal|ENST00000292733|protein_coding|11/17|c.1553-16C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|short_sequence_motif:Nuclear_localization_signal|ENST00000382974|protein_coding|11/16|c.1340-16C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|short_sequence_motif:Nuclear_localization_signal|ENST00000382974|protein_coding|10/16|c.1340-16C>T||||||,T|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000461076|retained_intron||n.-1C>T|||||24|,T|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000436496|retained_intron||n.-1C>T|||||1632|,T|downstream_gene_variant|MODIFIER|AC007050.18|ENSG00000250261|transcript|ENST00000508880|unprocessed_pseudogene||n.*1123G>A|||||4182|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript||n.*707C>T|||||87|,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|12/17|c.1673-16C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|11/16|n.*1396-16C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|10/15|c.1220-16C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|11/16|c.1553-16C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|6/10|c.*133-16C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|11/16|c.1475-16C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|10/15|c.1340-16C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|11/16|c.1475-16C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|7/12|n.2012-16C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000489651|retained_intron|4/9|n.1956-16C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473244|retained_intron|3/8|n.1111-16C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000493216|retained_intron|1/2|n.1155-16C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476187|retained_intron|2/2|n.174-16C>T|||||| 22 20937606 . T TG . . ANN=G|sequence_feature|LOW|MED15|ENSG00000099917|short_sequence_motif:Nuclear_localization_signal|ENST00000263205|protein_coding|13/18|c.1673-11_1673-10insG||||||,G|sequence_feature|LOW|MED15|ENSG00000099917|short_sequence_motif:Nuclear_localization_signal|ENST00000263205|protein_coding|12/18|c.1673-11_1673-10insG||||||,G|sequence_feature|LOW|MED15|ENSG00000099917|short_sequence_motif:Nuclear_localization_signal|ENST00000292733|protein_coding|12/17|c.1553-11_1553-10insG||||||,G|sequence_feature|LOW|MED15|ENSG00000099917|short_sequence_motif:Nuclear_localization_signal|ENST00000292733|protein_coding|11/17|c.1553-11_1553-10insG||||||,G|sequence_feature|LOW|MED15|ENSG00000099917|short_sequence_motif:Nuclear_localization_signal|ENST00000382974|protein_coding|11/16|c.1340-11_1340-10insG||||||,G|sequence_feature|LOW|MED15|ENSG00000099917|short_sequence_motif:Nuclear_localization_signal|ENST00000382974|protein_coding|10/16|c.1340-11_1340-10insG||||||,G|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000461076|retained_intron||n.-1_-1insG|||||18|,G|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000436496|retained_intron||n.-1_-1insG|||||1626|,G|downstream_gene_variant|MODIFIER|AC007050.18|ENSG00000250261|transcript|ENST00000508880|unprocessed_pseudogene||n.*1123_*1123insC|||||4176|,G|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript||n.*707_*707insG|||||93|,G|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|12/17|c.1673-11_1673-10insG||||||,G|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|11/16|n.*1396-11_*1396-10insG||||||,G|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|10/15|c.1220-11_1220-10insG||||||,G|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|11/16|c.1553-11_1553-10insG||||||,G|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|6/10|c.*133-11_*133-10insG||||||,G|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|11/16|c.1475-11_1475-10insG||||||,G|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|10/15|c.1340-11_1340-10insG||||||,G|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|11/16|c.1475-11_1475-10insG||||||,G|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|7/12|n.2012-11_2012-10insG||||||,G|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000489651|retained_intron|4/9|n.1956-11_1956-10insG||||||,G|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473244|retained_intron|3/8|n.1111-11_1111-10insG||||||,G|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000493216|retained_intron|1/2|n.1155-11_1155-10insG||||||,G|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476187|retained_intron|2/2|n.174-11_174-10insG|||||| 22 20937648 . C T . . ANN=T|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|13/18|c.1704C>T|p.Ser568Ser|1773/3351|1704/2367|568/788||,T|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|11/16|c.1251C>T|p.Ser417Ser|1451/3041|1251/1914|417/637||,T|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|12/17|c.1584C>T|p.Ser528Ser|1661/3252|1584/2247|528/748||,T|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|12/17|c.1506C>T|p.Ser502Ser|1634/3210|1506/2169|502/722||,T|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|11/16|c.1371C>T|p.Ser457Ser|1409/2235|1371/2034|457/677||,T|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|12/17|c.1506C>T|p.Ser502Ser|1909/2703|1506/2169|502/722||,T|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|12/17|n.*1427C>T|||||31925|,T|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|7/11|c.*164C>T|||||246|,T|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000436496|retained_intron||n.-1C>T|||||1585|,T|downstream_gene_variant|MODIFIER|AC007050.18|ENSG00000250261|transcript|ENST00000508880|unprocessed_pseudogene||n.*1123G>A|||||4135|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript||n.*707C>T|||||134|,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|12/17|n.*1427C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|8/13|n.2043C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000489651|retained_intron|5/10|n.1987C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473244|retained_intron|4/9|n.1142C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000493216|retained_intron|2/3|n.1186C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476187|retained_intron|3/3|n.205C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000461076|retained_intron|1/3|n.24C>T|||||| 22 20939110 . C T . . ANN=T|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000436496|retained_intron||n.-1C>T|||||123|,T|downstream_gene_variant|MODIFIER|AC007050.18|ENSG00000250261|transcript|ENST00000508880|unprocessed_pseudogene||n.*1123G>A|||||2673|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript||n.*707C>T|||||1596|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476187|retained_intron||n.*593C>T|||||1074|,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|14/17|c.1804-32C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|13/16|n.*1527-32C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|12/15|c.1351-32C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|13/16|c.1684-32C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|8/10|c.*264-32C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|13/16|c.1606-32C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|12/15|c.1471-32C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|13/16|c.1606-32C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|9/12|n.2143-32C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000489651|retained_intron|6/9|n.2087-32C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473244|retained_intron|5/8|n.1242-32C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000461076|retained_intron|2/2|n.124-278C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000493216|retained_intron|2/3|n.2648C>T|||||| 22 20939123 . G A . . ANN=A|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000436496|retained_intron||n.-1G>A|||||110|,A|downstream_gene_variant|MODIFIER|AC007050.18|ENSG00000250261|transcript|ENST00000508880|unprocessed_pseudogene||n.*1123C>T|||||2660|,A|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript||n.*707G>A|||||1609|,A|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476187|retained_intron||n.*593G>A|||||1087|,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|14/17|c.1804-19G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|13/16|n.*1527-19G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|12/15|c.1351-19G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|13/16|c.1684-19G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|8/10|c.*264-19G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|13/16|c.1606-19G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|12/15|c.1471-19G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|13/16|c.1606-19G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|9/12|n.2143-19G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000489651|retained_intron|6/9|n.2087-19G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473244|retained_intron|5/8|n.1242-19G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000461076|retained_intron|2/2|n.124-265G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000493216|retained_intron|2/3|n.2661G>A|||||| 22 20939161 . C T . . ANN=T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|15/18|c.1823C>T|p.Pro608Leu|1892/3351|1823/2367|608/788||,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|13/16|c.1370C>T|p.Pro457Leu|1570/3041|1370/1914|457/637||,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|14/17|c.1703C>T|p.Pro568Leu|1780/3252|1703/2247|568/748||,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|14/17|c.1625C>T|p.Pro542Leu|1753/3210|1625/2169|542/722||,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|13/16|c.1490C>T|p.Pro497Leu|1528/2235|1490/2034|497/677||,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|14/17|c.1625C>T|p.Pro542Leu|2028/2703|1625/2169|542/722||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Poly-Pro|ENST00000263205|protein_coding|15/18|c.1823C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Poly-Pro|ENST00000292733|protein_coding|14/17|c.1703C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Poly-Pro|ENST00000382974|protein_coding|13/16|c.1490C>T||||||,T|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|14/17|n.*1546C>T|||||33438|,T|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|9/11|c.*283C>T|||||1759|,T|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000436496|retained_intron||n.-1C>T|||||72|,T|downstream_gene_variant|MODIFIER|AC007050.18|ENSG00000250261|transcript|ENST00000508880|unprocessed_pseudogene||n.*1123G>A|||||2622|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript||n.*707C>T|||||1647|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476187|retained_intron||n.*593C>T|||||1125|,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000461076|retained_intron|2/2|n.124-227C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|14/17|n.*1546C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|10/13|n.2162C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000489651|retained_intron|7/10|n.2106C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473244|retained_intron|6/9|n.1261C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000493216|retained_intron|2/3|n.2699C>T|||||| 22 20939296 . C T . . ANN=T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|15/18|c.1958C>T|p.Pro653Leu|2027/3351|1958/2367|653/788||,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|13/16|c.1505C>T|p.Pro502Leu|1705/3041|1505/1914|502/637||,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|14/17|c.1838C>T|p.Pro613Leu|1915/3252|1838/2247|613/748||,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|14/17|c.1760C>T|p.Pro587Leu|1888/3210|1760/2169|587/722||,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|13/16|c.1625C>T|p.Pro542Leu|1663/2235|1625/2034|542/677||,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|14/17|c.1760C>T|p.Pro587Leu|2163/2703|1760/2169|587/722||,T|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|14/17|n.*1681C>T|||||33573|,T|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|9/11|c.*418C>T|||||1894|,T|downstream_gene_variant|MODIFIER|AC007050.18|ENSG00000250261|transcript|ENST00000508880|unprocessed_pseudogene||n.*1123G>A|||||2487|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript||n.*707C>T|||||1782|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476187|retained_intron||n.*593C>T|||||1260|,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000461076|retained_intron|2/2|n.124-92C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|14/17|n.*1681C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|10/13|n.2297C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000489651|retained_intron|7/10|n.2241C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473244|retained_intron|6/9|n.1396C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000493216|retained_intron|2/3|n.2834C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000436496|retained_intron|1/2|n.64C>T|||||| 22 20939298 . A G . . ANN=G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|15/18|c.1960A>G|p.Ile654Val|2029/3351|1960/2367|654/788||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|13/16|c.1507A>G|p.Ile503Val|1707/3041|1507/1914|503/637||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|14/17|c.1840A>G|p.Ile614Val|1917/3252|1840/2247|614/748||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|14/17|c.1762A>G|p.Ile588Val|1890/3210|1762/2169|588/722||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|13/16|c.1627A>G|p.Ile543Val|1665/2235|1627/2034|543/677||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|14/17|c.1762A>G|p.Ile588Val|2165/2703|1762/2169|588/722||,G|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|14/17|n.*1683A>G|||||33575|,G|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|9/11|c.*420A>G|||||1896|,G|downstream_gene_variant|MODIFIER|AC007050.18|ENSG00000250261|transcript|ENST00000508880|unprocessed_pseudogene||n.*1123T>C|||||2485|,G|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript||n.*707A>G|||||1784|,G|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476187|retained_intron||n.*593A>G|||||1262|,G|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000461076|retained_intron|2/2|n.124-90A>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|14/17|n.*1683A>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|10/13|n.2299A>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000489651|retained_intron|7/10|n.2243A>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473244|retained_intron|6/9|n.1398A>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000493216|retained_intron|2/3|n.2836A>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000436496|retained_intron|1/2|n.66A>G|||||| 22 20939400 . G A . . ANN=A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|16/18|c.1977G>A|p.Val659Val|2046/3351|1977/2367|659/788||,A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|14/16|c.1524G>A|p.Val508Val|1724/3041|1524/1914|508/637||,A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|15/17|c.1857G>A|p.Val619Val|1934/3252|1857/2247|619/748||,A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|15/17|c.1779G>A|p.Val593Val|1907/3210|1779/2169|593/722||,A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|14/16|c.1644G>A|p.Val548Val|1682/2235|1644/2034|548/677||,A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|15/17|c.1779G>A|p.Val593Val|2182/2703|1779/2169|593/722||,A|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|15/17|n.*1700G>A|||||33677|,A|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|9/11|c.*522G>A|||||1998|,A|downstream_gene_variant|MODIFIER|AC007050.18|ENSG00000250261|transcript|ENST00000508880|unprocessed_pseudogene||n.*1123C>T|||||2383|,A|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript||n.*707G>A|||||1886|,A|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476187|retained_intron||n.*593G>A|||||1364|,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|15/17|n.*1700G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|11/13|n.2316G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000489651|retained_intron|8/10|n.2260G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473244|retained_intron|7/9|n.1415G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000493216|retained_intron|2/3|n.2938G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000461076|retained_intron|3/3|n.136G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000436496|retained_intron|2/2|n.83G>A|||||| 22 20940002 . T G . . ANN=G|downstream_gene_variant|MODIFIER|AC007050.18|ENSG00000250261|transcript|ENST00000508880|unprocessed_pseudogene||n.*1123A>C|||||1781|,G|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript||n.*707T>G|||||2488|,G|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476187|retained_intron||n.*593T>G|||||1966|,G|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000436496|retained_intron||n.*393T>G|||||292|,G|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|16/17|c.2132-13T>G||||||,G|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|15/16|n.*1855-13T>G||||||,G|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|14/15|c.1679-13T>G||||||,G|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|15/16|c.2012-13T>G||||||,G|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|9/10|c.*677-13T>G||||||,G|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|15/16|c.1934-13T>G||||||,G|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|14/15|c.1799-13T>G||||||,G|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|15/16|c.1934-13T>G||||||,G|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|11/12|n.2471-13T>G||||||,G|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000489651|retained_intron|8/9|n.2415-13T>G||||||,G|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473244|retained_intron|7/8|n.1570-13T>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000493216|retained_intron|2/3|n.3540T>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000461076|retained_intron|3/3|n.738T>G|||||| 22 20940046 . G A . . ANN=A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|17/18|c.2163G>A|p.Leu721Leu|2232/3351|2163/2367|721/788||,A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|15/16|c.1710G>A|p.Leu570Leu|1910/3041|1710/1914|570/637||,A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|16/17|c.2043G>A|p.Leu681Leu|2120/3252|2043/2247|681/748||,A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|16/17|c.1965G>A|p.Leu655Leu|2093/3210|1965/2169|655/722||,A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|15/16|c.1830G>A|p.Leu610Leu|1868/2235|1830/2034|610/677||,A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|16/17|c.1965G>A|p.Leu655Leu|2368/2703|1965/2169|655/722||,A|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|16/17|n.*1886G>A|||||34323|,A|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|10/11|c.*708G>A|||||2644|,A|downstream_gene_variant|MODIFIER|AC007050.18|ENSG00000250261|transcript|ENST00000508880|unprocessed_pseudogene||n.*1123C>T|||||1737|,A|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript||n.*707G>A|||||2532|,A|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476187|retained_intron||n.*593G>A|||||2010|,A|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000436496|retained_intron||n.*393G>A|||||336|,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|16/17|n.*1886G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|12/13|n.2502G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000489651|retained_intron|9/10|n.2446G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473244|retained_intron|8/9|n.1601G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000493216|retained_intron|2/3|n.3584G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000461076|retained_intron|3/3|n.782G>A|||||| 22 20940085 . G A . . ANN=A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|17/18|c.2202G>A|p.Pro734Pro|2271/3351|2202/2367|734/788||,A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|15/16|c.1749G>A|p.Pro583Pro|1949/3041|1749/1914|583/637||,A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|16/17|c.2082G>A|p.Pro694Pro|2159/3252|2082/2247|694/748||,A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|16/17|c.2004G>A|p.Pro668Pro|2132/3210|2004/2169|668/722||,A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|15/16|c.1869G>A|p.Pro623Pro|1907/2235|1869/2034|623/677||,A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|16/17|c.2004G>A|p.Pro668Pro|2407/2703|2004/2169|668/722||,A|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|16/17|n.*1925G>A|||||34362|,A|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|10/11|c.*747G>A|||||2683|,A|downstream_gene_variant|MODIFIER|AC007050.18|ENSG00000250261|transcript|ENST00000508880|unprocessed_pseudogene||n.*1123C>T|||||1698|,A|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript||n.*707G>A|||||2571|,A|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476187|retained_intron||n.*593G>A|||||2049|,A|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000436496|retained_intron||n.*393G>A|||||375|,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|16/17|n.*1925G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|12/13|n.2541G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000489651|retained_intron|9/10|n.2485G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473244|retained_intron|8/9|n.1640G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000493216|retained_intron|2/3|n.3623G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000461076|retained_intron|3/3|n.821G>A|||||| 22 20940807 . G A . . ANN=A|downstream_gene_variant|MODIFIER|AC007050.18|ENSG00000250261|transcript|ENST00000508880|unprocessed_pseudogene||n.*1123C>T|||||976|,A|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript||n.*707G>A|||||3293|,A|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476187|retained_intron||n.*593G>A|||||2771|,A|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000461076|retained_intron||n.*826G>A|||||717|,A|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000436496|retained_intron||n.*393G>A|||||1097|,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|17/17|c.2231-48G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|16/16|n.*1954-48G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|15/15|c.1778-48G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|16/16|c.2111-48G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|10/10|c.*776-48G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|16/16|c.2033-48G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|15/15|c.1898-48G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|16/16|c.2033-48G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|12/12|n.2570-48G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000489651|retained_intron|9/9|n.2514-48G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473244|retained_intron|8/8|n.1669-48G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000493216|retained_intron|2/2|n.3652-48G>A|||||| 22 20940822 . C T . . ANN=T|downstream_gene_variant|MODIFIER|AC007050.18|ENSG00000250261|transcript|ENST00000508880|unprocessed_pseudogene||n.*1123G>A|||||961|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript||n.*707C>T|||||3308|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476187|retained_intron||n.*593C>T|||||2786|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000461076|retained_intron||n.*826C>T|||||732|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000436496|retained_intron||n.*393C>T|||||1112|,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|17/17|c.2231-33C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|16/16|n.*1954-33C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|15/15|c.1778-33C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|16/16|c.2111-33C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|10/10|c.*776-33C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|16/16|c.2033-33C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|15/15|c.1898-33C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|16/16|c.2033-33C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|12/12|n.2570-33C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000489651|retained_intron|9/9|n.2514-33C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473244|retained_intron|8/8|n.1669-33C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000493216|retained_intron|2/2|n.3652-33C>T|||||| 22 20940856 . C T . . ANN=T|splice_region_variant&synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|18/18|c.2232C>T|p.Asp744Asp|2301/3351|2232/2367|744/788||,T|splice_region_variant&non_coding_exon_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|17/17|n.*1955C>T||||||,T|splice_region_variant&synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|16/16|c.1779C>T|p.Asp593Asp|1979/3041|1779/1914|593/637||,T|splice_region_variant&synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|17/17|c.2112C>T|p.Asp704Asp|2189/3252|2112/2247|704/748||,T|splice_region_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|11/11|c.*777C>T||||||,T|splice_region_variant&synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|17/17|c.2034C>T|p.Asp678Asp|2162/3210|2034/2169|678/722||,T|splice_region_variant&synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|16/16|c.1899C>T|p.Asp633Asp|1937/2235|1899/2034|633/677||,T|splice_region_variant&synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|17/17|c.2034C>T|p.Asp678Asp|2437/2703|2034/2169|678/722||,T|splice_region_variant&non_coding_exon_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|13/13|n.2571C>T||||||,T|splice_region_variant&non_coding_exon_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000489651|retained_intron|10/10|n.2515C>T||||||,T|splice_region_variant&non_coding_exon_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000473244|retained_intron|9/9|n.1670C>T||||||,T|splice_region_variant&non_coding_exon_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000493216|retained_intron|3/3|n.3653C>T||||||,T|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|17/17|n.*1955C>T|||||35133|,T|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|11/11|c.*777C>T|||||3454|,T|downstream_gene_variant|MODIFIER|AC007050.18|ENSG00000250261|transcript|ENST00000508880|unprocessed_pseudogene||n.*1123G>A|||||927|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript||n.*707C>T|||||3342|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476187|retained_intron||n.*593C>T|||||2820|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000461076|retained_intron||n.*826C>T|||||766|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000436496|retained_intron||n.*393C>T|||||1146| 22 20940857 . G A . . ANN=A|missense_variant&splice_region_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|18/18|c.2233G>A|p.Ala745Thr|2302/3351|2233/2367|745/788||,A|missense_variant&splice_region_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|16/16|c.1780G>A|p.Ala594Thr|1980/3041|1780/1914|594/637||,A|missense_variant&splice_region_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|17/17|c.2113G>A|p.Ala705Thr|2190/3252|2113/2247|705/748||,A|missense_variant&splice_region_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|17/17|c.2035G>A|p.Ala679Thr|2163/3210|2035/2169|679/722||,A|missense_variant&splice_region_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|16/16|c.1900G>A|p.Ala634Thr|1938/2235|1900/2034|634/677||,A|missense_variant&splice_region_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|17/17|c.2035G>A|p.Ala679Thr|2438/2703|2035/2169|679/722||,A|splice_region_variant&non_coding_exon_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|17/17|n.*1956G>A||||||,A|splice_region_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|11/11|c.*778G>A||||||,A|splice_region_variant&non_coding_exon_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|13/13|n.2572G>A||||||,A|splice_region_variant&non_coding_exon_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000489651|retained_intron|10/10|n.2516G>A||||||,A|splice_region_variant&non_coding_exon_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000473244|retained_intron|9/9|n.1671G>A||||||,A|splice_region_variant&non_coding_exon_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000493216|retained_intron|3/3|n.3654G>A||||||,A|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|17/17|n.*1956G>A|||||35134|,A|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|11/11|c.*778G>A|||||3455|,A|downstream_gene_variant|MODIFIER|AC007050.18|ENSG00000250261|transcript|ENST00000508880|unprocessed_pseudogene||n.*1123C>T|||||926|,A|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript||n.*707G>A|||||3343|,A|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476187|retained_intron||n.*593G>A|||||2821|,A|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000461076|retained_intron||n.*826G>A|||||767|,A|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000436496|retained_intron||n.*393G>A|||||1147| 22 20940877 . G A . . ANN=A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|18/18|c.2253G>A|p.Ser751Ser|2322/3351|2253/2367|751/788||,A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|16/16|c.1800G>A|p.Ser600Ser|2000/3041|1800/1914|600/637||,A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|17/17|c.2133G>A|p.Ser711Ser|2210/3252|2133/2247|711/748||,A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|17/17|c.2055G>A|p.Ser685Ser|2183/3210|2055/2169|685/722||,A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|16/16|c.1920G>A|p.Ser640Ser|1958/2235|1920/2034|640/677||,A|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|17/17|c.2055G>A|p.Ser685Ser|2458/2703|2055/2169|685/722||,A|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|17/17|n.*1976G>A|||||35154|,A|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|11/11|c.*798G>A|||||3475|,A|downstream_gene_variant|MODIFIER|AC007050.18|ENSG00000250261|transcript|ENST00000508880|unprocessed_pseudogene||n.*1123C>T|||||906|,A|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript||n.*707G>A|||||3363|,A|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476187|retained_intron||n.*593G>A|||||2841|,A|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000461076|retained_intron||n.*826G>A|||||787|,A|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000436496|retained_intron||n.*393G>A|||||1167|,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|17/17|n.*1976G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|13/13|n.2592G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000489651|retained_intron|10/10|n.2536G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473244|retained_intron|9/9|n.1691G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000493216|retained_intron|3/3|n.3674G>A|||||| 22 20940934 . C T . . ANN=T|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|18/18|c.2310C>T|p.Thr770Thr|2379/3351|2310/2367|770/788||,T|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|16/16|c.1857C>T|p.Thr619Thr|2057/3041|1857/1914|619/637||,T|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|17/17|c.2190C>T|p.Thr730Thr|2267/3252|2190/2247|730/748||,T|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|17/17|c.2112C>T|p.Thr704Thr|2240/3210|2112/2169|704/722||,T|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|16/16|c.1977C>T|p.Thr659Thr|2015/2235|1977/2034|659/677||,T|synonymous_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|17/17|c.2112C>T|p.Thr704Thr|2515/2703|2112/2169|704/722||,T|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|17/17|n.*2033C>T|||||35211|,T|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|11/11|c.*855C>T|||||3532|,T|downstream_gene_variant|MODIFIER|AC007050.18|ENSG00000250261|transcript|ENST00000508880|unprocessed_pseudogene||n.*1123G>A|||||849|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript||n.*707C>T|||||3420|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476187|retained_intron||n.*593C>T|||||2898|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000461076|retained_intron||n.*826C>T|||||844|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000436496|retained_intron||n.*393C>T|||||1224|,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|17/17|n.*2033C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|13/13|n.2649C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000489651|retained_intron|10/10|n.2593C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473244|retained_intron|9/9|n.1748C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000493216|retained_intron|3/3|n.3731C>T|||||| 22 20941012 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|18/18|c.*21C>T|||||21|,T|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|17/17|n.*2111C>T|||||35289|,T|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|16/16|c.*21C>T|||||21|,T|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|17/17|c.*21C>T|||||21|,T|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|11/11|c.*933C>T|||||3610|,T|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|17/17|c.*21C>T|||||21|,T|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|16/16|c.*21C>T|||||21|,T|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|17/17|c.*21C>T|||||21|,T|downstream_gene_variant|MODIFIER|AC007050.18|ENSG00000250261|transcript|ENST00000508880|unprocessed_pseudogene||n.*1123G>A|||||771|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript||n.*707C>T|||||3498|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476187|retained_intron||n.*593C>T|||||2976|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000461076|retained_intron||n.*826C>T|||||922|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000436496|retained_intron||n.*393C>T|||||1302|,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|17/17|n.*2111C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|13/13|n.2727C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000489651|retained_intron|10/10|n.2671C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473244|retained_intron|9/9|n.1826C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000493216|retained_intron|3/3|n.3809C>T|||||| 22 20941038 . A C . . ANN=C|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|18/18|c.*47A>C|||||47|,C|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|17/17|n.*2137A>C|||||35315|,C|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|16/16|c.*47A>C|||||47|,C|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|17/17|c.*47A>C|||||47|,C|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|11/11|c.*959A>C|||||3636|,C|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|17/17|c.*47A>C|||||47|,C|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|16/16|c.*47A>C|||||47|,C|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|17/17|c.*47A>C|||||47|,C|downstream_gene_variant|MODIFIER|AC007050.18|ENSG00000250261|transcript|ENST00000508880|unprocessed_pseudogene||n.*1123T>G|||||745|,C|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript||n.*707A>C|||||3524|,C|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476187|retained_intron||n.*593A>C|||||3002|,C|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000461076|retained_intron||n.*826A>C|||||948|,C|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000436496|retained_intron||n.*393A>C|||||1328|,C|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|17/17|n.*2137A>C||||||,C|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|13/13|n.2753A>C||||||,C|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000489651|retained_intron|10/10|n.2697A>C||||||,C|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473244|retained_intron|9/9|n.1852A>C||||||,C|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000493216|retained_intron|3/3|n.3835A>C|||||| 22 20941039 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|18/18|c.*48C>T|||||48|,T|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|17/17|n.*2138C>T|||||35316|,T|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|16/16|c.*48C>T|||||48|,T|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|17/17|c.*48C>T|||||48|,T|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|11/11|c.*960C>T|||||3637|,T|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|17/17|c.*48C>T|||||48|,T|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|16/16|c.*48C>T|||||48|,T|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|17/17|c.*48C>T|||||48|,T|downstream_gene_variant|MODIFIER|AC007050.18|ENSG00000250261|transcript|ENST00000508880|unprocessed_pseudogene||n.*1123G>A|||||744|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript||n.*707C>T|||||3525|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476187|retained_intron||n.*593C>T|||||3003|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000461076|retained_intron||n.*826C>T|||||949|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000436496|retained_intron||n.*393C>T|||||1329|,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|17/17|n.*2138C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|13/13|n.2754C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000489651|retained_intron|10/10|n.2698C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473244|retained_intron|9/9|n.1853C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000493216|retained_intron|3/3|n.3836C>T|||||| 22 21062316 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|55/55|c.*19C>T|||||19|,A|3_prime_UTR_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000414196|protein_coding|23/23|c.*19C>T|||||19|,A|3_prime_UTR_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|55/55|c.*19C>T|||||19|,A|3_prime_UTR_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000399213|protein_coding|13/13|c.*19C>T|||||19|,A|downstream_gene_variant|MODIFIER|TMEM191A|ENSG00000226287|transcript|ENST00000450925|processed_transcript||n.*1961G>A|||||3422|,A|downstream_gene_variant|MODIFIER|TMEM191A|ENSG00000226287|transcript|ENST00000436618|retained_intron||n.*926G>A|||||3688|,A|downstream_gene_variant|MODIFIER|TMEM191A|ENSG00000226287|transcript|ENST00000442222|processed_transcript||n.*737G>A|||||3426|,A|downstream_gene_variant|MODIFIER|TMEM191A|ENSG00000226287|transcript|ENST00000445836|processed_transcript||n.*671G>A|||||3523|,A|downstream_gene_variant|MODIFIER|TMEM191A|ENSG00000226287|transcript|ENST00000452055|retained_intron||n.*788G>A|||||3422|,A|downstream_gene_variant|MODIFIER|TMEM191A|ENSG00000226287|transcript|ENST00000414022|retained_intron||n.*466G>A|||||3774|,A|downstream_gene_variant|MODIFIER|TMEM191A|ENSG00000226287|transcript|ENST00000454833|retained_intron||n.*419G>A|||||3909|,A|downstream_gene_variant|MODIFIER|TMEM191A|ENSG00000226287|transcript|ENST00000419950|processed_transcript||n.*663G>A|||||3422|,A|downstream_gene_variant|MODIFIER|TMEM191A|ENSG00000226287|transcript|ENST00000422715|retained_intron||n.*471G>A|||||3794|,A|downstream_gene_variant|MODIFIER|TMEM191A|ENSG00000226287|transcript|ENST00000428752|retained_intron||n.*614G>A|||||3470|,A|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000482030|retained_intron||n.*655C>T|||||2724|,A|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466394|retained_intron||n.*782C>T|||||3274|,A|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000492581|retained_intron|10/10|n.3590C>T||||||,A|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000477245|retained_intron|23/23|n.2701C>T||||||,A|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466772|retained_intron|13/13|n.2785C>T|||||| 22 21067690 . G A . . ANN=A|sequence_feature|LOW|PI4KA|ENSG00000241973|region_of_interest:Pleckstrin_homology__PH__domain_conferring_phosphoinositide_binding_specificity|ENST00000414196|protein_coding|12/23|c.1718-12C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|region_of_interest:Pleckstrin_homology__PH__domain_conferring_phosphoinositide_binding_specificity|ENST00000414196|protein_coding|16/23|c.1718-12C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|region_of_interest:Pleckstrin_homology__PH__domain_conferring_phosphoinositide_binding_specificity|ENST00000414196|protein_coding|15/23|c.1718-12C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|region_of_interest:Pleckstrin_homology__PH__domain_conferring_phosphoinositide_binding_specificity|ENST00000414196|protein_coding|13/23|c.1718-12C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|region_of_interest:Pleckstrin_homology__PH__domain_conferring_phosphoinositide_binding_specificity|ENST00000414196|protein_coding|14/23|c.1718-12C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|region_of_interest:Pleckstrin_homology__PH__domain_conferring_phosphoinositide_binding_specificity|ENST00000572273|protein_coding|44/55|c.5288-12C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|region_of_interest:Pleckstrin_homology__PH__domain_conferring_phosphoinositide_binding_specificity|ENST00000572273|protein_coding|48/55|c.5288-12C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|region_of_interest:Pleckstrin_homology__PH__domain_conferring_phosphoinositide_binding_specificity|ENST00000572273|protein_coding|47/55|c.5288-12C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|region_of_interest:Pleckstrin_homology__PH__domain_conferring_phosphoinositide_binding_specificity|ENST00000572273|protein_coding|46/55|c.5288-12C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|region_of_interest:Pleckstrin_homology__PH__domain_conferring_phosphoinositide_binding_specificity|ENST00000572273|protein_coding|45/55|c.5288-12C>T||||||,A|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000482030|retained_intron||n.-1C>T|||||409|,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|47/54|c.5462-12C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000492581|retained_intron|5/9|n.1058-12C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000414196|protein_coding|15/22|c.1718-12C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|47/54|c.5288-12C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000477245|retained_intron|15/22|n.1835-12C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466772|retained_intron|7/12|n.639-12C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000399213|protein_coding|5/12|c.467-12C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466394|retained_intron|3/6|n.282-12C>T|||||| 22 21072992 . C T . . ANN=T|synonymous_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|44/55|c.5235G>A|p.Ser1745Ser|5322/6752|5235/6309|1745/2102||,T|synonymous_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000414196|protein_coding|12/23|c.1491G>A|p.Ser497Ser|1608/3036|1491/2565|497/854||,T|synonymous_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|44/55|c.5061G>A|p.Ser1687Ser|5292/6720|5061/6135|1687/2044||,T|synonymous_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000399213|protein_coding|2/13|c.240G>A|p.Ser80Ser|240/1636|240/1308|80/435||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|region_of_interest:Pleckstrin_homology__PH__domain_conferring_phosphoinositide_binding_specificity|ENST00000414196|protein_coding|12/23|c.1491G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|region_of_interest:Pleckstrin_homology__PH__domain_conferring_phosphoinositide_binding_specificity|ENST00000414196|protein_coding|16/23|c.1491G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|region_of_interest:Pleckstrin_homology__PH__domain_conferring_phosphoinositide_binding_specificity|ENST00000414196|protein_coding|15/23|c.1491G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|region_of_interest:Pleckstrin_homology__PH__domain_conferring_phosphoinositide_binding_specificity|ENST00000414196|protein_coding|13/23|c.1491G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|region_of_interest:Pleckstrin_homology__PH__domain_conferring_phosphoinositide_binding_specificity|ENST00000414196|protein_coding|14/23|c.1491G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|region_of_interest:Pleckstrin_homology__PH__domain_conferring_phosphoinositide_binding_specificity|ENST00000572273|protein_coding|44/55|c.5061G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|region_of_interest:Pleckstrin_homology__PH__domain_conferring_phosphoinositide_binding_specificity|ENST00000572273|protein_coding|48/55|c.5061G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|region_of_interest:Pleckstrin_homology__PH__domain_conferring_phosphoinositide_binding_specificity|ENST00000572273|protein_coding|47/55|c.5061G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|region_of_interest:Pleckstrin_homology__PH__domain_conferring_phosphoinositide_binding_specificity|ENST00000572273|protein_coding|46/55|c.5061G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|region_of_interest:Pleckstrin_homology__PH__domain_conferring_phosphoinositide_binding_specificity|ENST00000572273|protein_coding|45/55|c.5061G>A||||||,T|upstream_gene_variant|MODIFIER|AC007308.6|ENSG00000234252|transcript|ENST00000430719|antisense||n.-1C>T|||||4343|,T|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466394|retained_intron||n.-1G>A|||||860|,T|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000492581|retained_intron|2/10|n.831G>A||||||,T|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000477245|retained_intron|12/23|n.1608G>A||||||,T|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466772|retained_intron|4/13|n.412G>A|||||| 22 21073090 . C G . . ANN=G|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|44/55|c.5137G>C|p.Asp1713His|5224/6752|5137/6309|1713/2102||,G|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000414196|protein_coding|12/23|c.1393G>C|p.Asp465His|1510/3036|1393/2565|465/854||,G|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|44/55|c.4963G>C|p.Asp1655His|5194/6720|4963/6135|1655/2044||,G|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000399213|protein_coding|2/13|c.142G>C|p.Asp48His|142/1636|142/1308|48/435||,G|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|8/23|c.1393G>C||||||,G|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|11/23|c.1393G>C||||||,G|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|9/23|c.1393G>C||||||,G|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|12/23|c.1393G>C||||||,G|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|10/23|c.1393G>C||||||,G|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|7/23|c.1393G>C||||||,G|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|44/55|c.4963G>C||||||,G|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|42/55|c.4963G>C||||||,G|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|43/55|c.4963G>C||||||,G|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|41/55|c.4963G>C||||||,G|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|40/55|c.4963G>C||||||,G|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|39/55|c.4963G>C||||||,G|upstream_gene_variant|MODIFIER|AC007308.6|ENSG00000234252|transcript|ENST00000430719|antisense||n.-1C>G|||||4245|,G|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466394|retained_intron||n.-1G>C|||||958|,G|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000492581|retained_intron|2/10|n.733G>C||||||,G|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000477245|retained_intron|12/23|n.1510G>C||||||,G|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466772|retained_intron|4/13|n.314G>C|||||| 22 21073122 . G A . . ANN=A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|8/23|c.1373-12C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|11/23|c.1373-12C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|9/23|c.1373-12C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|12/23|c.1373-12C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|10/23|c.1373-12C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|7/23|c.1373-12C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|44/55|c.4943-12C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|42/55|c.4943-12C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|43/55|c.4943-12C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|41/55|c.4943-12C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|40/55|c.4943-12C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|39/55|c.4943-12C>T||||||,A|upstream_gene_variant|MODIFIER|AC007308.6|ENSG00000234252|transcript|ENST00000430719|antisense||n.-1G>A|||||4213|,A|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466394|retained_intron||n.-1C>T|||||990|,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|43/54|c.5117-12C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000492581|retained_intron|1/9|n.713-12C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000414196|protein_coding|11/22|c.1373-12C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|43/54|c.4943-12C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000477245|retained_intron|11/22|n.1490-12C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466772|retained_intron|3/12|n.294-12C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000399213|protein_coding|1/12|c.122-12C>T|||||| 22 21075537 . A C . . ANN=C|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|8/23|c.1372+49T>G||||||,C|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|11/23|c.1372+49T>G||||||,C|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|9/23|c.1372+49T>G||||||,C|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|12/23|c.1372+49T>G||||||,C|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|10/23|c.1372+49T>G||||||,C|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|7/23|c.1372+49T>G||||||,C|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|44/55|c.4942+49T>G||||||,C|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|42/55|c.4942+49T>G||||||,C|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|43/55|c.4942+49T>G||||||,C|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|41/55|c.4942+49T>G||||||,C|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|40/55|c.4942+49T>G||||||,C|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|39/55|c.4942+49T>G||||||,C|upstream_gene_variant|MODIFIER|AC007308.6|ENSG00000234252|transcript|ENST00000430719|antisense||n.-1A>C|||||1798|,C|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466394|retained_intron||n.-1T>G|||||3405|,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|43/54|c.5116+49T>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000492581|retained_intron|1/9|n.712+49T>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000414196|protein_coding|11/22|c.1372+49T>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|43/54|c.4942+49T>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000477245|retained_intron|11/22|n.1489+49T>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466772|retained_intron|3/12|n.293+49T>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000399213|protein_coding|1/12|c.121+49T>G|||||| 22 21075586 . G C . . ANN=C|missense_variant&splice_region_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|43/55|c.5116C>G|p.Pro1706Ala|5203/6752|5116/6309|1706/2102||,C|missense_variant&splice_region_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000414196|protein_coding|11/23|c.1372C>G|p.Pro458Ala|1489/3036|1372/2565|458/854||,C|missense_variant&splice_region_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|43/55|c.4942C>G|p.Pro1648Ala|5173/6720|4942/6135|1648/2044||,C|missense_variant&splice_region_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000399213|protein_coding|1/13|c.121C>G|p.Pro41Ala|121/1636|121/1308|41/435||,C|splice_region_variant&non_coding_exon_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000492581|retained_intron|1/10|n.712C>G||||||,C|splice_region_variant&non_coding_exon_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000477245|retained_intron|11/23|n.1489C>G||||||,C|splice_region_variant&non_coding_exon_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000466772|retained_intron|3/13|n.293C>G||||||,C|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|8/23|c.1372C>G||||||,C|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|11/23|c.1372C>G||||||,C|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|9/23|c.1372C>G||||||,C|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|12/23|c.1372C>G||||||,C|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|10/23|c.1372C>G||||||,C|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|7/23|c.1372C>G||||||,C|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|44/55|c.4942C>G||||||,C|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|42/55|c.4942C>G||||||,C|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|43/55|c.4942C>G||||||,C|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|41/55|c.4942C>G||||||,C|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|40/55|c.4942C>G||||||,C|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|39/55|c.4942C>G||||||,C|upstream_gene_variant|MODIFIER|AC007308.6|ENSG00000234252|transcript|ENST00000430719|antisense||n.-1G>C|||||1749|,C|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466394|retained_intron||n.-1C>G|||||3454| 22 21080753 . C T . . ANN=T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|8/23|c.1251+23G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|11/23|c.1251+23G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|9/23|c.1251+23G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|12/23|c.1251+23G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|10/23|c.1251+23G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|7/23|c.1251+23G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|44/55|c.4821+23G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|42/55|c.4821+23G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|43/55|c.4821+23G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|41/55|c.4821+23G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|40/55|c.4821+23G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|39/55|c.4821+23G>A||||||,T|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000492581|retained_intron||n.-1G>A|||||4456|,T|downstream_gene_variant|MODIFIER|AC007308.6|ENSG00000234252|transcript|ENST00000430719|antisense||n.*2400C>T|||||545|,T|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485123|retained_intron||n.*455G>A|||||1104|,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|42/54|c.4995+23G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000414196|protein_coding|10/22|c.1251+23G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|42/54|c.4821+23G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000477245|retained_intron|10/22|n.1368+23G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466772|retained_intron|2/12|n.172+33G>A||||||,T|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000489966|retained_intron|2/2|n.141G>A|||||| 22 21080864 . G C . . ANN=C|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|8/23|c.1198-35C>G||||||,C|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|11/23|c.1198-35C>G||||||,C|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|9/23|c.1198-35C>G||||||,C|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|12/23|c.1198-35C>G||||||,C|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|10/23|c.1198-35C>G||||||,C|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|7/23|c.1198-35C>G||||||,C|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|44/55|c.4768-35C>G||||||,C|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|42/55|c.4768-35C>G||||||,C|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|43/55|c.4768-35C>G||||||,C|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|41/55|c.4768-35C>G||||||,C|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|40/55|c.4768-35C>G||||||,C|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|39/55|c.4768-35C>G||||||,C|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000492581|retained_intron||n.-1C>G|||||4567|,C|downstream_gene_variant|MODIFIER|AC007308.6|ENSG00000234252|transcript|ENST00000430719|antisense||n.*2400G>C|||||656|,C|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485123|retained_intron||n.*455C>G|||||993|,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|41/54|c.4942-35C>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000414196|protein_coding|9/22|c.1198-35C>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|41/54|c.4768-35C>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000477245|retained_intron|9/22|n.1315-35C>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466772|retained_intron|1/12|n.129-35C>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000489966|retained_intron|1/1|n.65-35C>G|||||| 22 21080877 . C T . . ANN=T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|8/23|c.1198-48G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|11/23|c.1198-48G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|9/23|c.1198-48G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|12/23|c.1198-48G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|10/23|c.1198-48G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|7/23|c.1198-48G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|44/55|c.4768-48G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|42/55|c.4768-48G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|43/55|c.4768-48G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|41/55|c.4768-48G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|40/55|c.4768-48G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|39/55|c.4768-48G>A||||||,T|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000492581|retained_intron||n.-1G>A|||||4580|,T|downstream_gene_variant|MODIFIER|AC007308.6|ENSG00000234252|transcript|ENST00000430719|antisense||n.*2400C>T|||||669|,T|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485123|retained_intron||n.*455G>A|||||980|,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|41/54|c.4942-48G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000414196|protein_coding|9/22|c.1198-48G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|41/54|c.4768-48G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000477245|retained_intron|9/22|n.1315-48G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466772|retained_intron|1/12|n.129-48G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000489966|retained_intron|1/1|n.65-48G>A|||||| 22 21081480 . T C . . ANN=C|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|8/23|c.1197+38A>G||||||,C|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|11/23|c.1197+38A>G||||||,C|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|9/23|c.1197+38A>G||||||,C|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|12/23|c.1197+38A>G||||||,C|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|10/23|c.1197+38A>G||||||,C|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|7/23|c.1197+38A>G||||||,C|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|44/55|c.4767+38A>G||||||,C|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|42/55|c.4767+38A>G||||||,C|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|43/55|c.4767+38A>G||||||,C|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|41/55|c.4767+38A>G||||||,C|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|40/55|c.4767+38A>G||||||,C|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|39/55|c.4767+38A>G||||||,C|downstream_gene_variant|MODIFIER|AC007308.6|ENSG00000234252|transcript|ENST00000430719|antisense||n.*2400T>C|||||1272|,C|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485123|retained_intron||n.*455A>G|||||377|,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|41/54|c.4941+38A>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000414196|protein_coding|9/22|c.1197+38A>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|41/54|c.4767+38A>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000477245|retained_intron|9/22|n.1314+38A>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466772|retained_intron|1/12|n.128+38A>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000489966|retained_intron|1/1|n.64+38A>G|||||| 22 21081634 . C T . . ANN=T|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|41/55|c.4825G>A|p.Val1609Met|4912/6752|4825/6309|1609/2102||,T|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000414196|protein_coding|9/23|c.1081G>A|p.Val361Met|1198/3036|1081/2565|361/854||,T|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|41/55|c.4651G>A|p.Val1551Met|4882/6720|4651/6135|1551/2044||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|8/23|c.1081G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|11/23|c.1081G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|9/23|c.1081G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|12/23|c.1081G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|10/23|c.1081G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|7/23|c.1081G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|44/55|c.4651G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|42/55|c.4651G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|43/55|c.4651G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|41/55|c.4651G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|40/55|c.4651G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|39/55|c.4651G>A||||||,T|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000489966|retained_intron||n.-1G>A|||||53|,T|downstream_gene_variant|MODIFIER|AC007308.6|ENSG00000234252|transcript|ENST00000430719|antisense||n.*2400C>T|||||1426|,T|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485123|retained_intron||n.*455G>A|||||223|,T|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000477245|retained_intron|9/23|n.1198G>A||||||,T|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466772|retained_intron|1/13|n.12G>A|||||| 22 21082013 . G A . . ANN=A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|8/23|c.1029+49C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|11/23|c.1029+49C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|9/23|c.1029+49C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|12/23|c.1029+49C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|10/23|c.1029+49C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|7/23|c.1029+49C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|44/55|c.4599+49C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|42/55|c.4599+49C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|43/55|c.4599+49C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|41/55|c.4599+49C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|40/55|c.4599+49C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|39/55|c.4599+49C>T||||||,A|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466772|retained_intron||n.-1C>T|||||368|,A|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000489966|retained_intron||n.-1C>T|||||432|,A|downstream_gene_variant|MODIFIER|AC007308.6|ENSG00000234252|transcript|ENST00000430719|antisense||n.*2400G>A|||||1805|,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|40/54|c.4773+49C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000414196|protein_coding|8/22|c.1029+49C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|40/54|c.4599+49C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000477245|retained_intron|8/22|n.1146+49C>T||||||,A|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485123|retained_intron|2/2|n.299C>T|||||| 22 21082033 . C T . . ANN=T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|8/23|c.1029+29G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|11/23|c.1029+29G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|9/23|c.1029+29G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|12/23|c.1029+29G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|10/23|c.1029+29G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|7/23|c.1029+29G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|44/55|c.4599+29G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|42/55|c.4599+29G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|43/55|c.4599+29G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|41/55|c.4599+29G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|40/55|c.4599+29G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|39/55|c.4599+29G>A||||||,T|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466772|retained_intron||n.-1G>A|||||388|,T|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000489966|retained_intron||n.-1G>A|||||452|,T|downstream_gene_variant|MODIFIER|AC007308.6|ENSG00000234252|transcript|ENST00000430719|antisense||n.*2400C>T|||||1825|,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|40/54|c.4773+29G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000414196|protein_coding|8/22|c.1029+29G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|40/54|c.4599+29G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000477245|retained_intron|8/22|n.1146+29G>A||||||,T|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485123|retained_intron|2/2|n.279G>A|||||| 22 21082168 . G A . . ANN=A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|8/23|c.939-16C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|11/23|c.939-16C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|9/23|c.939-16C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|12/23|c.939-16C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|10/23|c.939-16C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|7/23|c.939-16C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|44/55|c.4509-16C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|42/55|c.4509-16C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|43/55|c.4509-16C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|41/55|c.4509-16C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|40/55|c.4509-16C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|39/55|c.4509-16C>T||||||,A|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466772|retained_intron||n.-1C>T|||||523|,A|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000489966|retained_intron||n.-1C>T|||||587|,A|downstream_gene_variant|MODIFIER|AC007308.6|ENSG00000234252|transcript|ENST00000430719|antisense||n.*2400G>A|||||1960|,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|39/54|c.4683-16C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000414196|protein_coding|7/22|c.939-16C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|39/54|c.4509-16C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000477245|retained_intron|7/22|n.1056-16C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485123|retained_intron|1/1|n.160-16C>T|||||| 22 21083591 . G A . . ANN=A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|8/23|c.938+10C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|11/23|c.938+10C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|9/23|c.938+10C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|12/23|c.938+10C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|10/23|c.938+10C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|7/23|c.938+10C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|44/55|c.4508+10C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|42/55|c.4508+10C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|43/55|c.4508+10C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|41/55|c.4508+10C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|40/55|c.4508+10C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|39/55|c.4508+10C>T||||||,A|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466772|retained_intron||n.-1C>T|||||1946|,A|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000489966|retained_intron||n.-1C>T|||||2010|,A|downstream_gene_variant|MODIFIER|AC007308.6|ENSG00000234252|transcript|ENST00000430719|antisense||n.*2400G>A|||||3383|,A|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000462210|retained_intron||n.*560C>T|||||4433|,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|39/54|c.4682+10C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000414196|protein_coding|7/22|c.938+10C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|39/54|c.4508+10C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000477245|retained_intron|7/22|n.1055+10C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485123|retained_intron|1/1|n.159+10C>T|||||| 22 21083611 . G A . . ANN=A|synonymous_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|39/55|c.4672C>T|p.Leu1558Leu|4759/6752|4672/6309|1558/2102||,A|synonymous_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000414196|protein_coding|7/23|c.928C>T|p.Leu310Leu|1045/3036|928/2565|310/854||,A|synonymous_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|39/55|c.4498C>T|p.Leu1500Leu|4729/6720|4498/6135|1500/2044||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|8/23|c.928C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|11/23|c.928C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|9/23|c.928C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|12/23|c.928C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|10/23|c.928C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|7/23|c.928C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|44/55|c.4498C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|42/55|c.4498C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|43/55|c.4498C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|41/55|c.4498C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|40/55|c.4498C>T||||||,A|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|39/55|c.4498C>T||||||,A|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466772|retained_intron||n.-1C>T|||||1966|,A|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000489966|retained_intron||n.-1C>T|||||2030|,A|downstream_gene_variant|MODIFIER|AC007308.6|ENSG00000234252|transcript|ENST00000430719|antisense||n.*2400G>A|||||3403|,A|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000462210|retained_intron||n.*560C>T|||||4413|,A|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000477245|retained_intron|7/23|n.1045C>T||||||,A|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485123|retained_intron|1/2|n.149C>T|||||| 22 21083886 . G A . . ANN=A|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466772|retained_intron||n.-1C>T|||||2241|,A|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000489966|retained_intron||n.-1C>T|||||2305|,A|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485123|retained_intron||n.-1C>T|||||127|,A|downstream_gene_variant|MODIFIER|AC007308.6|ENSG00000234252|transcript|ENST00000430719|antisense||n.*2400G>A|||||3678|,A|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000462210|retained_intron||n.*560C>T|||||4138|,A|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000477368|processed_transcript||n.*535C>T|||||4879|,A|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000494113|retained_intron||n.*515C>T|||||4879|,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|38/54|c.4488+34C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000414196|protein_coding|6/22|c.744+34C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|38/54|c.4314+34C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000477245|retained_intron|6/22|n.861+34C>T|||||| 22 21083938 . C T . . ANN=T|synonymous_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|38/55|c.4470G>A|p.Thr1490Thr|4557/6752|4470/6309|1490/2102||,T|synonymous_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000414196|protein_coding|6/23|c.726G>A|p.Thr242Thr|843/3036|726/2565|242/854||,T|synonymous_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|38/55|c.4296G>A|p.Thr1432Thr|4527/6720|4296/6135|1432/2044||,T|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466772|retained_intron||n.-1G>A|||||2293|,T|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000489966|retained_intron||n.-1G>A|||||2357|,T|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485123|retained_intron||n.-1G>A|||||179|,T|downstream_gene_variant|MODIFIER|AC007308.6|ENSG00000234252|transcript|ENST00000430719|antisense||n.*2400C>T|||||3730|,T|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000462210|retained_intron||n.*560G>A|||||4086|,T|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000477368|processed_transcript||n.*535G>A|||||4827|,T|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000494113|retained_intron||n.*515G>A|||||4827|,T|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000477245|retained_intron|6/23|n.843G>A|||||| 22 21083959 . T C . . ANN=C|synonymous_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|38/55|c.4449A>G|p.Lys1483Lys|4536/6752|4449/6309|1483/2102||,C|synonymous_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000414196|protein_coding|6/23|c.705A>G|p.Lys235Lys|822/3036|705/2565|235/854||,C|synonymous_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|38/55|c.4275A>G|p.Lys1425Lys|4506/6720|4275/6135|1425/2044||,C|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466772|retained_intron||n.-1A>G|||||2314|,C|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000489966|retained_intron||n.-1A>G|||||2378|,C|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485123|retained_intron||n.-1A>G|||||200|,C|downstream_gene_variant|MODIFIER|AC007308.6|ENSG00000234252|transcript|ENST00000430719|antisense||n.*2400T>C|||||3751|,C|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000462210|retained_intron||n.*560A>G|||||4065|,C|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000477368|processed_transcript||n.*535A>G|||||4806|,C|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000494113|retained_intron||n.*515A>G|||||4806|,C|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000477245|retained_intron|6/23|n.822A>G|||||| 22 21084155 . C G . . ANN=G|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466772|retained_intron||n.-1G>C|||||2510|,G|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000489966|retained_intron||n.-1G>C|||||2574|,G|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485123|retained_intron||n.-1G>C|||||396|,G|downstream_gene_variant|MODIFIER|AC007308.6|ENSG00000234252|transcript|ENST00000430719|antisense||n.*2400C>G|||||3947|,G|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000462210|retained_intron||n.*560G>C|||||3869|,G|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000477368|processed_transcript||n.*535G>C|||||4610|,G|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000494113|retained_intron||n.*515G>C|||||4610|,G|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|37/54|c.4408+25G>C||||||,G|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000414196|protein_coding|5/22|c.664+25G>C||||||,G|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|37/54|c.4234+25G>C||||||,G|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000477245|retained_intron|5/22|n.781+25G>C|||||| 22 21084208 . G A . . ANN=A|synonymous_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|37/55|c.4380C>T|p.Ser1460Ser|4467/6752|4380/6309|1460/2102||,A|synonymous_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000414196|protein_coding|5/23|c.636C>T|p.Ser212Ser|753/3036|636/2565|212/854||,A|synonymous_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|37/55|c.4206C>T|p.Ser1402Ser|4437/6720|4206/6135|1402/2044||,A|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466772|retained_intron||n.-1C>T|||||2563|,A|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000489966|retained_intron||n.-1C>T|||||2627|,A|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485123|retained_intron||n.-1C>T|||||449|,A|downstream_gene_variant|MODIFIER|AC007308.6|ENSG00000234252|transcript|ENST00000430719|antisense||n.*2400G>A|||||4000|,A|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000462210|retained_intron||n.*560C>T|||||3816|,A|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000477368|processed_transcript||n.*535C>T|||||4557|,A|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000494113|retained_intron||n.*515C>T|||||4557|,A|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000477245|retained_intron|5/23|n.753C>T|||||| 22 21084220 . G A . . ANN=A|synonymous_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|37/55|c.4368C>T|p.Tyr1456Tyr|4455/6752|4368/6309|1456/2102||,A|synonymous_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000414196|protein_coding|5/23|c.624C>T|p.Tyr208Tyr|741/3036|624/2565|208/854||,A|synonymous_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|37/55|c.4194C>T|p.Tyr1398Tyr|4425/6720|4194/6135|1398/2044||,A|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466772|retained_intron||n.-1C>T|||||2575|,A|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000489966|retained_intron||n.-1C>T|||||2639|,A|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485123|retained_intron||n.-1C>T|||||461|,A|downstream_gene_variant|MODIFIER|AC007308.6|ENSG00000234252|transcript|ENST00000430719|antisense||n.*2400G>A|||||4012|,A|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000462210|retained_intron||n.*560C>T|||||3804|,A|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000477368|processed_transcript||n.*535C>T|||||4545|,A|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000494113|retained_intron||n.*515C>T|||||4545|,A|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000477245|retained_intron|5/23|n.741C>T|||||| 22 21088881 . CA C . . ANN=|5_prime_UTR_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000414196|protein_coding|1/23|c.-44delT|||||44|,|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000462210|retained_intron||n.-1delT|||||99|,|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|32/54|c.3742-41delT||||||,|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|32/54|c.3568-41delT||||||,|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000477368|processed_transcript|1/1|n.459-41delT||||||,|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000494113|retained_intron|2/2|n.439-41delT||||||,|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000477245|retained_intron|1/23|n.74delT|||||| 22 21096605 . G A . . ANN=A|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|32/55|c.3652C>T|p.Pro1218Ser|3739/6752|3652/6309|1218/2102||,A|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|32/55|c.3478C>T|p.Pro1160Ser|3709/6720|3478/6135|1160/2044||,A|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000494113|retained_intron|2/3|n.349C>T|||||| 22 21096619 . T C . . ANN=C|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|32/55|c.3638A>G|p.His1213Arg|3725/6752|3638/6309|1213/2102||,C|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|32/55|c.3464A>G|p.His1155Arg|3695/6720|3464/6135|1155/2044||,C|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000494113|retained_intron|2/3|n.335A>G|||||| 22 21096679 . C T . . ANN=T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|31/54|c.3614-36G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|31/54|c.3440-36G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000494113|retained_intron|1/2|n.311-36G>A|||||| 22 21096865 . C T . . ANN=T|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000475414|retained_intron||n.*400G>A|||||4907|,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|31/54|c.3613+31G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|31/54|c.3439+31G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000494113|retained_intron|1/2|n.310+31G>A|||||| 22 21096885 . CAGTG C . . ANN=|splice_region_variant&intron_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|31/54|c.3613+7_3613+10delCACT||||||,|splice_region_variant&intron_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|31/54|c.3439+7_3439+10delCACT||||||,|splice_region_variant&intron_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000494113|retained_intron|1/2|n.310+7_310+10delCACT||||||,|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000475414|retained_intron||n.*400_*400delCACT|||||4886| 22 21096904 . C T . . ANN=T|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|31/55|c.3605G>A|p.Ser1202Asn|3692/6752|3605/6309|1202/2102||,T|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|31/55|c.3431G>A|p.Ser1144Asn|3662/6720|3431/6135|1144/2044||,T|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000475414|retained_intron||n.*400G>A|||||4868|,T|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000494113|retained_intron|1/3|n.302G>A|||||| 22 21097036 . C T . . ANN=T|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|31/55|c.3473G>A|p.Arg1158Gln|3560/6752|3473/6309|1158/2102||,T|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|31/55|c.3299G>A|p.Arg1100Gln|3530/6720|3299/6135|1100/2044||,T|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000475414|retained_intron||n.*400G>A|||||4736|,T|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000494113|retained_intron|1/3|n.170G>A|||||| 22 21097037 . G A . . ANN=A|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|31/55|c.3472C>T|p.Arg1158Trp|3559/6752|3472/6309|1158/2102||,A|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|31/55|c.3298C>T|p.Arg1100Trp|3529/6720|3298/6135|1100/2044||,A|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000475414|retained_intron||n.*400C>T|||||4735|,A|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000494113|retained_intron|1/3|n.169C>T|||||| 22 21098897 . GCAAGGA G . . ANN=|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000494113|retained_intron||n.-1_-1delTCCTTG|||||1693|,|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000475414|retained_intron||n.*400_*400delTCCTTG|||||2874|,|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|30/54|c.3456+13_3456+18delTCCTTG||||||,|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|30/54|c.3282+13_3282+18delTCCTTG|||||| 22 21098898 . C T . . ANN=T|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000494113|retained_intron||n.-1G>A|||||1693|,T|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000475414|retained_intron||n.*400G>A|||||2874|,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|30/54|c.3456+18G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|30/54|c.3282+18G>A|||||| 22 21101940 . C T . . ANN=T|synonymous_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|29/55|c.3294G>A|p.Thr1098Thr|3381/6752|3294/6309|1098/2102||,T|synonymous_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|29/55|c.3120G>A|p.Thr1040Thr|3351/6720|3120/6135|1040/2044||,T|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000494113|retained_intron||n.-1G>A|||||4735|,T|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000475414|retained_intron|4/4|n.232G>A|||||| 22 21104150 . T C . . ANN=C|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript||n.*589A>G|||||3284|,C|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript||n.*589A>G|||||3284|,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|28/54|c.3243+43A>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|28/54|c.3069+43A>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000475414|retained_intron|3/3|n.181+43A>G|||||| 22 21104315 . C T . . ANN=T|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript||n.*589G>A|||||3119|,T|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript||n.*589G>A|||||3119|,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|27/54|c.3154-33G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|27/54|c.2980-33G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000475414|retained_intron|2/3|n.92-33G>A|||||| 22 21105608 . C T . . ANN=T|synonymous_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|27/55|c.3126G>A|p.Thr1042Thr|3213/6752|3126/6309|1042/2102||,T|synonymous_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|27/55|c.2952G>A|p.Thr984Thr|3183/6720|2952/6135|984/2044||,T|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript||n.*589G>A|||||1826|,T|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript||n.*589G>A|||||1826|,T|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000475414|retained_intron|2/4|n.64G>A|||||| 22 21105614 . C G . . ANN=G|synonymous_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|27/55|c.3120G>C|p.Arg1040Arg|3207/6752|3120/6309|1040/2102||,G|synonymous_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|27/55|c.2946G>C|p.Arg982Arg|3177/6720|2946/6135|982/2044||,G|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript||n.*589G>C|||||1820|,G|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript||n.*589G>C|||||1820|,G|TF_binding_site_variant|MODIFIER|||CTCF|MA0139.1|||||||||,G|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000475414|retained_intron|2/4|n.58G>C|||||| 22 21105998 . C T . . ANN=T|synonymous_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|26/55|c.3033G>A|p.Leu1011Leu|3120/6752|3033/6309|1011/2102||,T|synonymous_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|26/55|c.2859G>A|p.Leu953Leu|3090/6720|2859/6135|953/2044||,T|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000475414|retained_intron||n.-1G>A|||||30|,T|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript||n.*589G>A|||||1436|,T|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript||n.*589G>A|||||1436| 22 21106055 . G A . . ANN=A|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000475414|retained_intron||n.-1C>T|||||87|,A|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript||n.*589C>T|||||1379|,A|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript||n.*589C>T|||||1379|,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|25/54|c.2988-12C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|25/54|c.2814-12C>T|||||| 22 21106077 . C T . . ANN=T|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000475414|retained_intron||n.-1G>A|||||109|,T|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript||n.*589G>A|||||1357|,T|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript||n.*589G>A|||||1357|,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|25/54|c.2988-34G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|25/54|c.2814-34G>A|||||| 22 21107153 . T C . . ANN=C|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000475414|retained_intron||n.-1A>G|||||1185|,C|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript||n.*589A>G|||||281|,C|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript||n.*589A>G|||||281|,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|25/54|c.2987+38A>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|25/54|c.2813+38A>G|||||| 22 21107179 . A G . . ANN=G|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000475414|retained_intron||n.-1T>C|||||1211|,G|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript||n.*589T>C|||||255|,G|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript||n.*589T>C|||||255|,G|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|25/54|c.2987+12T>C||||||,G|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|25/54|c.2813+12T>C|||||| 22 21107183 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|25/54|c.2987+8C>T||||||,A|splice_region_variant&intron_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|25/54|c.2813+8C>T||||||,A|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000475414|retained_intron||n.-1C>T|||||1215|,A|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript||n.*589C>T|||||251|,A|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript||n.*589C>T|||||251| 22 21107345 . G C . . ANN=C|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000475414|retained_intron||n.-1C>G|||||1377|,C|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript||n.*589C>G|||||89|,C|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript||n.*589C>G|||||89|,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|24/54|c.2863-30C>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|24/54|c.2689-30C>G|||||| 22 21107374 . C T . . ANN=T|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000475414|retained_intron||n.-1G>A|||||1406|,T|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript||n.*589G>A|||||60|,T|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript||n.*589G>A|||||60|,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|24/54|c.2862+24G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|24/54|c.2688+24G>A|||||| 22 21107413 . G A . . ANN=A|synonymous_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|24/55|c.2847C>T|p.Asn949Asn|2934/6752|2847/6309|949/2102||,A|synonymous_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|24/55|c.2673C>T|p.Asn891Asn|2904/6720|2673/6135|891/2044||,A|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000475414|retained_intron||n.-1C>T|||||1445|,A|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript||n.*589C>T|||||21|,A|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript||n.*589C>T|||||21| 22 21107463 . T C . . ANN=C|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|24/55|c.2797A>G|p.Met933Val|2884/6752|2797/6309|933/2102||,C|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|24/55|c.2623A>G|p.Met875Val|2854/6720|2623/6135|875/2044||,C|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000475414|retained_intron||n.-1A>G|||||1495|,C|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|7/7|n.560A>G||||||,C|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|7/7|n.560A>G|||||| 22 21107486 . C A . . ANN=A|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000475414|retained_intron||n.-1G>T|||||1518|,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|23/54|c.2792-18G>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|23/54|c.2618-18G>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|6/6|n.555-18G>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|6/6|n.555-18G>T|||||| 22 21115543 . C A . . ANN=A|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron||n.*646G>T|||||3360|,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|23/54|c.2791+49G>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|23/54|c.2617+49G>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|6/6|n.554+49G>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|6/6|n.554+49G>T|||||| 22 21115576 . A G . . ANN=G|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron||n.*646T>C|||||3327|,G|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|23/54|c.2791+16T>C||||||,G|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|23/54|c.2617+16T>C||||||,G|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|6/6|n.554+16T>C||||||,G|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|6/6|n.554+16T>C|||||| 22 21115714 . G A . . ANN=A|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron||n.*646C>T|||||3189|,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|22/54|c.2709-40C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|22/54|c.2535-40C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|5/6|n.472-40C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|5/6|n.472-40C>T|||||| 22 21119099 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|22/54|c.2708+6C>T||||||,A|splice_region_variant&intron_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|22/54|c.2534+6C>T||||||,A|splice_region_variant&intron_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|5/6|n.471+6C>T||||||,A|splice_region_variant&intron_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|5/6|n.471+6C>T||||||,A|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|5/5|n.450C>T|||||| 22 21119148 . T C . . ANN=C|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|22/55|c.2665A>G|p.Met889Val|2752/6752|2665/6309|889/2102||,C|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|22/55|c.2491A>G|p.Met831Val|2722/6720|2491/6135|831/2044||,C|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|5/7|n.428A>G||||||,C|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|5/7|n.428A>G||||||,C|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|5/5|n.401A>G|||||| 22 21119278 . C T . . ANN=T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|21/54|c.2575-40G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|21/54|c.2401-40G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|4/6|n.338-40G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|4/6|n.338-40G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|4/4|n.311-40G>A|||||| 22 21119433 . G A . . ANN=A|synonymous_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|21/55|c.2529C>T|p.Ser843Ser|2616/6752|2529/6309|843/2102||,A|synonymous_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|21/55|c.2355C>T|p.Ser785Ser|2586/6720|2355/6135|785/2044||,A|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|4/7|n.292C>T||||||,A|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|4/7|n.292C>T||||||,A|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|4/5|n.265C>T|||||| 22 21119564 . C A . . ANN=A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|20/54|c.2438-40G>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|20/54|c.2264-40G>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|3/6|n.201-40G>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|3/6|n.201-40G>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|3/4|n.174-40G>T|||||| 22 21119838 . C T . . ANN=T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|20/54|c.2437+35G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|20/54|c.2263+35G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|3/6|n.200+35G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|3/6|n.200+35G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|3/4|n.173+35G>A|||||| 22 21119867 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|20/54|c.2437+6G>A||||||,T|splice_region_variant&intron_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|20/54|c.2263+6G>A||||||,T|splice_region_variant&intron_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|3/6|n.200+6G>A||||||,T|splice_region_variant&intron_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|3/6|n.200+6G>A||||||,T|splice_region_variant&intron_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|3/4|n.173+6G>A|||||| 22 21119995 . A T . . ANN=T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|19/54|c.2329-14T>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|19/54|c.2155-14T>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|2/6|n.92-14T>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|2/6|n.92-14T>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|2/4|n.65-14T>A|||||| 22 21133609 . C T . . ANN=T|synonymous_variant|LOW|SERPIND1|ENSG00000099937|transcript|ENST00000215727|protein_coding|2/5|c.9C>T|p.His3His|292/2437|9/1500|3/499||,T|synonymous_variant|LOW|SERPIND1|ENSG00000099937|transcript|ENST00000406799|protein_coding|1/4|c.9C>T|p.His3His|141/1798|9/1500|3/499||,T|sequence_feature|LOW|SERPIND1|ENSG00000099937|signal_peptide|ENST00000406799|protein_coding|1/4|c.9C>T||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|19/54|c.2329-13628G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|19/54|c.2155-13628G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|2/6|n.92-13628G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|2/6|n.92-13628G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|2/4|n.65-13628G>A|||||| 22 21133618 . C T . . ANN=T|synonymous_variant|LOW|SERPIND1|ENSG00000099937|transcript|ENST00000215727|protein_coding|2/5|c.18C>T|p.Asn6Asn|301/2437|18/1500|6/499||,T|synonymous_variant|LOW|SERPIND1|ENSG00000099937|transcript|ENST00000406799|protein_coding|1/4|c.18C>T|p.Asn6Asn|150/1798|18/1500|6/499||,T|sequence_feature|LOW|SERPIND1|ENSG00000099937|signal_peptide|ENST00000406799|protein_coding|1/4|c.18C>T||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|19/54|c.2329-13637G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|19/54|c.2155-13637G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|2/6|n.92-13637G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|2/6|n.92-13637G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|2/4|n.65-13637G>A|||||| 22 21133619 . G A . . ANN=A|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000215727|protein_coding|2/5|c.19G>A|p.Ala7Thr|302/2437|19/1500|7/499||,A|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000406799|protein_coding|1/4|c.19G>A|p.Ala7Thr|151/1798|19/1500|7/499||,A|sequence_feature|LOW|SERPIND1|ENSG00000099937|signal_peptide|ENST00000406799|protein_coding|1/4|c.19G>A||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|19/54|c.2329-13638C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|19/54|c.2155-13638C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|2/6|n.92-13638C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|2/6|n.92-13638C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|2/4|n.65-13638C>T|||||| 22 21133685 . G A . . ANN=A|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000215727|protein_coding|2/5|c.85G>A|p.Glu29Lys|368/2437|85/1500|29/499||,A|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000406799|protein_coding|1/4|c.85G>A|p.Glu29Lys|217/1798|85/1500|29/499||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|19/54|c.2329-13704C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|19/54|c.2155-13704C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|2/6|n.92-13704C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|2/6|n.92-13704C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|2/4|n.65-13704C>T|||||| 22 21133692 . G A . . ANN=A|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000215727|protein_coding|2/5|c.92G>A|p.Gly31Glu|375/2437|92/1500|31/499||,A|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000406799|protein_coding|1/4|c.92G>A|p.Gly31Glu|224/1798|92/1500|31/499||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|19/54|c.2329-13711C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|19/54|c.2155-13711C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|2/6|n.92-13711C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|2/6|n.92-13711C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|2/4|n.65-13711C>T|||||| 22 21133793 . G A . . ANN=A|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000215727|protein_coding|2/5|c.193G>A|p.Val65Ile|476/2437|193/1500|65/499||,A|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000406799|protein_coding|1/4|c.193G>A|p.Val65Ile|325/1798|193/1500|65/499||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|19/54|c.2328+13688C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|19/54|c.2154+13688C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|2/6|n.91+13688C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|2/6|n.91+13688C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|2/4|n.64+13688C>T|||||| 22 21133831 . C A,T . . ANN=A|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000215727|protein_coding|2/5|c.231C>A|p.Asp77Glu|514/2437|231/1500|77/499||,A|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000406799|protein_coding|1/4|c.231C>A|p.Asp77Glu|363/1798|231/1500|77/499||,T|synonymous_variant|LOW|SERPIND1|ENSG00000099937|transcript|ENST00000215727|protein_coding|2/5|c.231C>T|p.Asp77Asp|514/2437|231/1500|77/499||,T|synonymous_variant|LOW|SERPIND1|ENSG00000099937|transcript|ENST00000406799|protein_coding|1/4|c.231C>T|p.Asp77Asp|363/1798|231/1500|77/499||,A|sequence_feature|LOW|SERPIND1|ENSG00000099937|region_of_interest:Chemotactic_activity|ENST00000406799|protein_coding|1/4|c.231C>A||||||,T|sequence_feature|LOW|SERPIND1|ENSG00000099937|region_of_interest:Chemotactic_activity|ENST00000406799|protein_coding|1/4|c.231C>T||||||,A|sequence_feature|LOW|SERPIND1|ENSG00000099937|repeat:1|ENST00000406799|protein_coding|1/4|c.231C>A||||||,T|sequence_feature|LOW|SERPIND1|ENSG00000099937|repeat:1|ENST00000406799|protein_coding|1/4|c.231C>T||||||,A|sequence_feature|LOW|SERPIND1|ENSG00000099937|region_of_interest:2_X_11_AA_approximate_repeats_Asp/Glu-rich__acidic___hirudin-like_|ENST00000406799|protein_coding|1/4|c.231C>A||||||,T|sequence_feature|LOW|SERPIND1|ENSG00000099937|region_of_interest:2_X_11_AA_approximate_repeats_Asp/Glu-rich__acidic___hirudin-like_|ENST00000406799|protein_coding|1/4|c.231C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|19/54|c.2328+13650G>T||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|19/54|c.2328+13650G>A||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|19/54|c.2154+13650G>T||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|19/54|c.2154+13650G>A||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|2/6|n.91+13650G>T||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|2/6|n.91+13650G>A||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|2/6|n.91+13650G>T||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|2/6|n.91+13650G>A||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|2/4|n.64+13650G>T||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|2/4|n.64+13650G>A|||||| 22 21133860 . G A . . ANN=A|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000215727|protein_coding|2/5|c.260G>A|p.Ser87Asn|543/2437|260/1500|87/499||,A|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000406799|protein_coding|1/4|c.260G>A|p.Ser87Asn|392/1798|260/1500|87/499||,A|sequence_feature|LOW|SERPIND1|ENSG00000099937|region_of_interest:2_X_11_AA_approximate_repeats_Asp/Glu-rich__acidic___hirudin-like_|ENST00000406799|protein_coding|1/4|c.260G>A||||||,A|sequence_feature|LOW|SERPIND1|ENSG00000099937|helix|ENST00000406799|protein_coding|1/4|c.260G>A||||||,A|sequence_feature|LOW|SERPIND1|ENSG00000099937|repeat:2|ENST00000406799|protein_coding|1/4|c.260G>A||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|19/54|c.2328+13621C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|19/54|c.2154+13621C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|2/6|n.91+13621C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|2/6|n.91+13621C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|2/4|n.64+13621C>T|||||| 22 21133885 . C T . . ANN=T|synonymous_variant|LOW|SERPIND1|ENSG00000099937|transcript|ENST00000215727|protein_coding|2/5|c.285C>T|p.Ile95Ile|568/2437|285/1500|95/499||,T|synonymous_variant|LOW|SERPIND1|ENSG00000099937|transcript|ENST00000406799|protein_coding|1/4|c.285C>T|p.Ile95Ile|417/1798|285/1500|95/499||,T|sequence_feature|LOW|SERPIND1|ENSG00000099937|region_of_interest:2_X_11_AA_approximate_repeats_Asp/Glu-rich__acidic___hirudin-like_|ENST00000406799|protein_coding|1/4|c.285C>T||||||,T|sequence_feature|LOW|SERPIND1|ENSG00000099937|repeat:2|ENST00000406799|protein_coding|1/4|c.285C>T||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|19/54|c.2328+13596G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|19/54|c.2154+13596G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|2/6|n.91+13596G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|2/6|n.91+13596G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|2/4|n.64+13596G>A|||||| 22 21133886 . G A . . ANN=A|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000215727|protein_coding|2/5|c.286G>A|p.Val96Ile|569/2437|286/1500|96/499||,A|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000406799|protein_coding|1/4|c.286G>A|p.Val96Ile|418/1798|286/1500|96/499||,A|sequence_feature|LOW|SERPIND1|ENSG00000099937|region_of_interest:2_X_11_AA_approximate_repeats_Asp/Glu-rich__acidic___hirudin-like_|ENST00000406799|protein_coding|1/4|c.286G>A||||||,A|sequence_feature|LOW|SERPIND1|ENSG00000099937|repeat:2|ENST00000406799|protein_coding|1/4|c.286G>A||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|19/54|c.2328+13595C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|19/54|c.2154+13595C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|2/6|n.91+13595C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|2/6|n.91+13595C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|2/4|n.64+13595C>T|||||| 22 21134007 . A T . . ANN=T|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000215727|protein_coding|2/5|c.407A>T|p.Asn136Ile|690/2437|407/1500|136/499||,T|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000406799|protein_coding|1/4|c.407A>T|p.Asn136Ile|539/1798|407/1500|136/499||,T|sequence_feature|LOW|SERPIND1|ENSG00000099937|helix|ENST00000406799|protein_coding|1/4|c.407A>T||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|19/54|c.2328+13474T>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|19/54|c.2154+13474T>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|2/6|n.91+13474T>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|2/6|n.91+13474T>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|2/4|n.64+13474T>A|||||| 22 21134023 . G A . . ANN=A|synonymous_variant|LOW|SERPIND1|ENSG00000099937|transcript|ENST00000215727|protein_coding|2/5|c.423G>A|p.Leu141Leu|706/2437|423/1500|141/499||,A|synonymous_variant|LOW|SERPIND1|ENSG00000099937|transcript|ENST00000406799|protein_coding|1/4|c.423G>A|p.Leu141Leu|555/1798|423/1500|141/499||,A|sequence_feature|LOW|SERPIND1|ENSG00000099937|helix|ENST00000406799|protein_coding|1/4|c.423G>A||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|19/54|c.2328+13458C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|19/54|c.2154+13458C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|2/6|n.91+13458C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|2/6|n.91+13458C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|2/4|n.64+13458C>T|||||| 22 21134037 . A T . . ANN=T|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000215727|protein_coding|2/5|c.437A>T|p.Asn146Ile|720/2437|437/1500|146/499||,T|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000406799|protein_coding|1/4|c.437A>T|p.Asn146Ile|569/1798|437/1500|146/499||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|19/54|c.2328+13444T>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|19/54|c.2154+13444T>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|2/6|n.91+13444T>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|2/6|n.91+13444T>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|2/4|n.64+13444T>A|||||| 22 21134067 . T C . . ANN=C|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000215727|protein_coding|2/5|c.467T>C|p.Val156Ala|750/2437|467/1500|156/499||,C|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000406799|protein_coding|1/4|c.467T>C|p.Val156Ala|599/1798|467/1500|156/499||,C|sequence_feature|LOW|SERPIND1|ENSG00000099937|helix|ENST00000406799|protein_coding|1/4|c.467T>C||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|19/54|c.2328+13414A>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|19/54|c.2154+13414A>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|2/6|n.91+13414A>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|2/6|n.91+13414A>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|2/4|n.64+13414A>G|||||| 22 21134083 . G A . . ANN=A|synonymous_variant|LOW|SERPIND1|ENSG00000099937|transcript|ENST00000215727|protein_coding|2/5|c.483G>A|p.Ala161Ala|766/2437|483/1500|161/499||,A|synonymous_variant|LOW|SERPIND1|ENSG00000099937|transcript|ENST00000406799|protein_coding|1/4|c.483G>A|p.Ala161Ala|615/1798|483/1500|161/499||,A|sequence_feature|LOW|SERPIND1|ENSG00000099937|helix|ENST00000406799|protein_coding|1/4|c.483G>A||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|19/54|c.2328+13398C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|19/54|c.2154+13398C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|2/6|n.91+13398C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|2/6|n.91+13398C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|2/4|n.64+13398C>T|||||| 22 21134136 . C T . . ANN=T|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000215727|protein_coding|2/5|c.536C>T|p.Ser179Leu|819/2437|536/1500|179/499||,T|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000406799|protein_coding|1/4|c.536C>T|p.Ser179Leu|668/1798|536/1500|179/499||,T|sequence_feature|LOW|SERPIND1|ENSG00000099937|helix|ENST00000406799|protein_coding|1/4|c.536C>T||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|19/54|c.2328+13345G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|19/54|c.2154+13345G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|2/6|n.91+13345G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|2/6|n.91+13345G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|2/4|n.64+13345G>A|||||| 22 21134223 . G A . . ANN=A|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000215727|protein_coding|2/5|c.623G>A|p.Arg208His|906/2437|623/1500|208/499||,A|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000406799|protein_coding|1/4|c.623G>A|p.Arg208His|755/1798|623/1500|208/499||,A|sequence_feature|LOW|SERPIND1|ENSG00000099937|region_of_interest:Glycosaminoglycan-binding_site|ENST00000406799|protein_coding|1/4|c.623G>A||||||,A|sequence_feature|LOW|SERPIND1|ENSG00000099937|helix|ENST00000406799|protein_coding|1/4|c.623G>A||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|19/54|c.2328+13258C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|19/54|c.2154+13258C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|2/6|n.91+13258C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|2/6|n.91+13258C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|2/4|n.64+13258C>T|||||| 22 21134284 . G A . . ANN=A|synonymous_variant|LOW|SERPIND1|ENSG00000099937|transcript|ENST00000215727|protein_coding|2/5|c.684G>A|p.Lys228Lys|967/2437|684/1500|228/499||,A|synonymous_variant|LOW|SERPIND1|ENSG00000099937|transcript|ENST00000406799|protein_coding|1/4|c.684G>A|p.Lys228Lys|816/1798|684/1500|228/499||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|19/54|c.2328+13197C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|19/54|c.2154+13197C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|2/6|n.91+13197C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|2/6|n.91+13197C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|2/4|n.64+13197C>T|||||| 22 21134430 . C T . . ANN=T|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000215727|protein_coding|2/5|c.830C>T|p.Ala277Val|1113/2437|830/1500|277/499||,T|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000406799|protein_coding|1/4|c.830C>T|p.Ala277Val|962/1798|830/1500|277/499||,T|sequence_feature|LOW|SERPIND1|ENSG00000099937|turn|ENST00000406799|protein_coding|1/4|c.830C>T||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|19/54|c.2328+13051G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|19/54|c.2154+13051G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|2/6|n.91+13051G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|2/6|n.91+13051G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|2/4|n.64+13051G>A|||||| 22 21134442 . T C . . ANN=C|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000215727|protein_coding|2/5|c.842T>C|p.Ile281Thr|1125/2437|842/1500|281/499||,C|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000406799|protein_coding|1/4|c.842T>C|p.Ile281Thr|974/1798|842/1500|281/499||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|19/54|c.2328+13039A>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|19/54|c.2154+13039A>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|2/6|n.91+13039A>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|2/6|n.91+13039A>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|2/4|n.64+13039A>G|||||| 22 21134513 . C T . . ANN=T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|19/54|c.2328+12968G>A||||||,T|intron_variant|MODIFIER|SERPIND1|ENSG00000099937|transcript|ENST00000215727|protein_coding|2/4|c.889+24C>T||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|19/54|c.2154+12968G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|2/6|n.91+12968G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|2/6|n.91+12968G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|2/4|n.64+12968G>A||||||,T|intron_variant|MODIFIER|SERPIND1|ENSG00000099937|transcript|ENST00000406799|protein_coding|1/3|c.889+24C>T|||||| 22 21138483 . G T . . ANN=T|synonymous_variant|LOW|SERPIND1|ENSG00000099937|transcript|ENST00000215727|protein_coding|3/5|c.1113G>T|p.Ala371Ala|1396/2437|1113/1500|371/499||,T|synonymous_variant|LOW|SERPIND1|ENSG00000099937|transcript|ENST00000406799|protein_coding|2/4|c.1113G>T|p.Ala371Ala|1245/1798|1113/1500|371/499||,T|sequence_feature|LOW|SERPIND1|ENSG00000099937|helix|ENST00000406799|protein_coding|2/4|c.1113G>T||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|19/54|c.2328+8998C>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|19/54|c.2154+8998C>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|2/6|n.91+8998C>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|2/6|n.91+8998C>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|2/4|n.64+8998C>A|||||| 22 21138487 . C T . . ANN=T|synonymous_variant|LOW|SERPIND1|ENSG00000099937|transcript|ENST00000215727|protein_coding|3/5|c.1117C>T|p.Leu373Leu|1400/2437|1117/1500|373/499||,T|synonymous_variant|LOW|SERPIND1|ENSG00000099937|transcript|ENST00000406799|protein_coding|2/4|c.1117C>T|p.Leu373Leu|1249/1798|1117/1500|373/499||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|19/54|c.2328+8994G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|19/54|c.2154+8994G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|2/6|n.91+8994G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|2/6|n.91+8994G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|2/4|n.64+8994G>A|||||| 22 21138544 . C T . . ANN=T|sequence_feature|LOW|SERPIND1|ENSG00000099937|beta_strand|ENST00000406799|protein_coding|2/4|c.1163+11C>T||||||,T|sequence_feature|LOW|SERPIND1|ENSG00000099937|beta_strand|ENST00000406799|protein_coding|3/4|c.1163+11C>T||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|19/54|c.2328+8937G>A||||||,T|intron_variant|MODIFIER|SERPIND1|ENSG00000099937|transcript|ENST00000215727|protein_coding|3/4|c.1163+11C>T||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|19/54|c.2154+8937G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|2/6|n.91+8937G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|2/6|n.91+8937G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|2/4|n.64+8937G>A||||||,T|intron_variant|MODIFIER|SERPIND1|ENSG00000099937|transcript|ENST00000406799|protein_coding|2/3|c.1163+11C>T|||||| 22 21140287 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|SERPIND1|ENSG00000099937|transcript|ENST00000215727|protein_coding|3/4|c.1164-5T>C||||||,C|splice_region_variant&intron_variant|LOW|SERPIND1|ENSG00000099937|transcript|ENST00000406799|protein_coding|2/3|c.1164-5T>C||||||,C|sequence_feature|LOW|SERPIND1|ENSG00000099937|beta_strand|ENST00000406799|protein_coding|2/4|c.1164-5T>C||||||,C|sequence_feature|LOW|SERPIND1|ENSG00000099937|beta_strand|ENST00000406799|protein_coding|3/4|c.1164-5T>C||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|19/54|c.2328+7194A>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|19/54|c.2154+7194A>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|2/6|n.91+7194A>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|2/6|n.91+7194A>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|2/4|n.64+7194A>G|||||| 22 21141116 . C A,T . . ANN=A|sequence_feature|LOW|SERPIND1|ENSG00000099937|beta_strand|ENST00000406799|protein_coding|3/4|c.1309-47C>A||||||,A|sequence_feature|LOW|SERPIND1|ENSG00000099937|beta_strand|ENST00000406799|protein_coding|4/4|c.1309-47C>A||||||,T|sequence_feature|LOW|SERPIND1|ENSG00000099937|beta_strand|ENST00000406799|protein_coding|3/4|c.1309-47C>T||||||,T|sequence_feature|LOW|SERPIND1|ENSG00000099937|beta_strand|ENST00000406799|protein_coding|4/4|c.1309-47C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|19/54|c.2328+6365G>T||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|19/54|c.2328+6365G>A||||||,A|intron_variant|MODIFIER|SERPIND1|ENSG00000099937|transcript|ENST00000215727|protein_coding|4/4|c.1309-47C>A||||||,T|intron_variant|MODIFIER|SERPIND1|ENSG00000099937|transcript|ENST00000215727|protein_coding|4/4|c.1309-47C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|19/54|c.2154+6365G>T||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|19/54|c.2154+6365G>A||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|2/6|n.91+6365G>T||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|2/6|n.91+6365G>A||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|2/6|n.91+6365G>T||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|2/6|n.91+6365G>A||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|2/4|n.64+6365G>T||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|2/4|n.64+6365G>A||||||,A|intron_variant|MODIFIER|SERPIND1|ENSG00000099937|transcript|ENST00000406799|protein_coding|3/3|c.1309-47C>A||||||,T|intron_variant|MODIFIER|SERPIND1|ENSG00000099937|transcript|ENST00000406799|protein_coding|3/3|c.1309-47C>T|||||| 22 21141179 . C T . . ANN=T|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000215727|protein_coding|5/5|c.1325C>T|p.Thr442Met|1608/2437|1325/1500|442/499||,T|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000406799|protein_coding|4/4|c.1325C>T|p.Thr442Met|1457/1798|1325/1500|442/499||,T|sequence_feature|LOW|SERPIND1|ENSG00000099937|beta_strand|ENST00000406799|protein_coding|3/4|c.1325C>T||||||,T|sequence_feature|LOW|SERPIND1|ENSG00000099937|beta_strand|ENST00000406799|protein_coding|4/4|c.1325C>T||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|19/54|c.2328+6302G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|19/54|c.2154+6302G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|2/6|n.91+6302G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|2/6|n.91+6302G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|2/4|n.64+6302G>A|||||| 22 21141225 . G A . . ANN=A|synonymous_variant|LOW|SERPIND1|ENSG00000099937|transcript|ENST00000215727|protein_coding|5/5|c.1371G>A|p.Thr457Thr|1654/2437|1371/1500|457/499||,A|synonymous_variant|LOW|SERPIND1|ENSG00000099937|transcript|ENST00000406799|protein_coding|4/4|c.1371G>A|p.Thr457Thr|1503/1798|1371/1500|457/499||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|19/54|c.2328+6256C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|19/54|c.2154+6256C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|2/6|n.91+6256C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|2/6|n.91+6256C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|2/4|n.64+6256C>T|||||| 22 21141265 . G A . . ANN=A|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000215727|protein_coding|5/5|c.1411G>A|p.Val471Ile|1694/2437|1411/1500|471/499||,A|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000406799|protein_coding|4/4|c.1411G>A|p.Val471Ile|1543/1798|1411/1500|471/499||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|19/54|c.2328+6216C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|19/54|c.2154+6216C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|2/6|n.91+6216C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|2/6|n.91+6216C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|2/4|n.64+6216C>T|||||| 22 21141300 . T C . . ANN=C|synonymous_variant|LOW|SERPIND1|ENSG00000099937|transcript|ENST00000215727|protein_coding|5/5|c.1446T>C|p.His482His|1729/2437|1446/1500|482/499||,C|synonymous_variant|LOW|SERPIND1|ENSG00000099937|transcript|ENST00000406799|protein_coding|4/4|c.1446T>C|p.His482His|1578/1798|1446/1500|482/499||,C|sequence_feature|LOW|SERPIND1|ENSG00000099937|turn|ENST00000406799|protein_coding|4/4|c.1446T>C||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|19/54|c.2328+6181A>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|19/54|c.2154+6181A>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|2/6|n.91+6181A>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|2/6|n.91+6181A>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|2/4|n.64+6181A>G|||||| 22 21141392 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|SERPIND1|ENSG00000099937|transcript|ENST00000215727|protein_coding|5/5|c.*38C>T|||||38|,T|3_prime_UTR_variant|MODIFIER|SERPIND1|ENSG00000099937|transcript|ENST00000406799|protein_coding|4/4|c.*38C>T|||||38|,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|19/54|c.2328+6089G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|19/54|c.2154+6089G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|2/6|n.91+6089G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|2/6|n.91+6089G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|2/4|n.64+6089G>A|||||| 22 21147564 . G C . . ANN=C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|18/54|c.2278-33C>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|18/54|c.2104-33C>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|1/6|n.41-33C>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|1/6|n.41-33C>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|1/4|n.14-33C>G|||||| 22 21150389 . G A . . ANN=A|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript||n.-1C>T|||||2727|,A|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript||n.-1C>T|||||2727|,A|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron||n.*2301C>T|||||2377|,A|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485950|retained_intron||n.*479C>T|||||2839|,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|18/54|c.2277+45C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|18/54|c.2103+45C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|1/4|n.13+45C>T|||||| 22 21150408 . G A . . ANN=A|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript||n.-1C>T|||||2746|,A|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript||n.-1C>T|||||2746|,A|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron||n.*2301C>T|||||2358|,A|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485950|retained_intron||n.*479C>T|||||2820|,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|18/54|c.2277+26C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|18/54|c.2103+26C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|1/4|n.13+26C>T|||||| 22 21150479 . C G . . ANN=G|synonymous_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|18/55|c.2232G>C|p.Gly744Gly|2319/6752|2232/6309|744/2102||,G|synonymous_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|18/55|c.2058G>C|p.Gly686Gly|2289/6720|2058/6135|686/2044||,G|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript||n.-1G>C|||||2817|,G|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript||n.-1G>C|||||2817|,G|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron||n.-1G>C|||||33|,G|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron||n.*2301G>C|||||2287|,G|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485950|retained_intron||n.*479G>C|||||2749| 22 21150521 . G A . . ANN=A|synonymous_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|18/55|c.2190C>T|p.Leu730Leu|2277/6752|2190/6309|730/2102||,A|synonymous_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|18/55|c.2016C>T|p.Leu672Leu|2247/6720|2016/6135|672/2044||,A|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript||n.-1C>T|||||2859|,A|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript||n.-1C>T|||||2859|,A|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron||n.-1C>T|||||75|,A|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron||n.*2301C>T|||||2245|,A|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485950|retained_intron||n.*479C>T|||||2707| 22 21150649 . G A . . ANN=A|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript||n.-1C>T|||||2987|,A|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript||n.-1C>T|||||2987|,A|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron||n.-1C>T|||||203|,A|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron||n.*2301C>T|||||2117|,A|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485950|retained_intron||n.*479C>T|||||2579|,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|17/54|c.2109-47C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|17/54|c.1935-47C>T|||||| 22 21152916 . G A . . ANN=A|synonymous_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|17/55|c.2064C>T|p.Ser688Ser|2151/6752|2064/6309|688/2102||,A|synonymous_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|17/55|c.1890C>T|p.Ser630Ser|2121/6720|1890/6135|630/2044||,A|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron||n.-1C>T|||||2470|,A|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485950|retained_intron||n.*479C>T|||||312|,A|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|17/17|n.2151C>T|||||| 22 21152979 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|16/54|c.2005-4C>T||||||,A|splice_region_variant&intron_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|16/54|c.1831-4C>T||||||,A|splice_region_variant&intron_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|16/16|n.2092-4C>T||||||,A|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron||n.-1C>T|||||2533|,A|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485950|retained_intron||n.*479C>T|||||249| 22 21153335 . G A . . ANN=A|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron||n.-1C>T|||||2889|,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|16/54|c.2004+46C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|16/54|c.1830+46C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|16/16|n.2091+46C>T||||||,A|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485950|retained_intron|3/3|n.372C>T|||||| 22 21153433 . G C . . ANN=C|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|16/55|c.1952C>G|p.Pro651Arg|2039/6752|1952/6309|651/2102||,C|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|16/55|c.1778C>G|p.Pro593Arg|2009/6720|1778/6135|593/2044||,C|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron||n.-1C>G|||||2987|,C|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|16/17|n.2039C>G||||||,C|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485950|retained_intron|3/3|n.274C>G|||||| 22 21153492 . C T . . ANN=T|synonymous_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|16/55|c.1893G>A|p.Pro631Pro|1980/6752|1893/6309|631/2102||,T|synonymous_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|16/55|c.1719G>A|p.Pro573Pro|1950/6720|1719/6135|573/2044||,T|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron||n.-1G>A|||||3046|,T|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|16/17|n.1980G>A||||||,T|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485950|retained_intron|3/3|n.215G>A|||||| 22 21153590 . C T . . ANN=T|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron||n.-1G>A|||||3144|,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|15/54|c.1821-26G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|15/54|c.1647-26G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|15/16|n.1908-26G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485950|retained_intron|2/2|n.143-26G>A|||||| 22 21153606 . C T . . ANN=T|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron||n.-1G>A|||||3160|,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|15/54|c.1821-42G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|15/54|c.1647-42G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|15/16|n.1908-42G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485950|retained_intron|2/2|n.143-42G>A|||||| 22 21153964 . G A . . ANN=A|synonymous_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|15/55|c.1815C>T|p.Ser605Ser|1902/6752|1815/6309|605/2102||,A|synonymous_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|15/55|c.1641C>T|p.Ser547Ser|1872/6720|1641/6135|547/2044||,A|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron||n.-1C>T|||||3518|,A|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|15/17|n.1902C>T||||||,A|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485950|retained_intron|2/3|n.137C>T|||||| 22 21156239 . C T . . ANN=T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|14/54|c.1724+22G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|14/54|c.1550+22G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|14/16|n.1811+22G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485950|retained_intron|1/2|n.46+22G>A|||||| 22 21156277 . T C . . ANN=C|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|14/55|c.1708A>G|p.Ile570Val|1795/6752|1708/6309|570/2102||,C|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|14/55|c.1534A>G|p.Ile512Val|1765/6720|1534/6135|512/2044||,C|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|14/17|n.1795A>G||||||,C|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485950|retained_intron|1/3|n.30A>G|||||| 22 21156281 . G T . . ANN=T|synonymous_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|14/55|c.1704C>A|p.Ile568Ile|1791/6752|1704/6309|568/2102||,T|synonymous_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|14/55|c.1530C>A|p.Ile510Ile|1761/6720|1530/6135|510/2044||,T|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|14/17|n.1791C>A||||||,T|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485950|retained_intron|1/3|n.26C>A|||||| 22 21156293 . C A . . ANN=A|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|14/55|c.1692G>T|p.Gln564His|1779/6752|1692/6309|564/2102||,A|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|14/55|c.1518G>T|p.Gln506His|1749/6720|1518/6135|506/2044||,A|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|14/17|n.1779G>T||||||,A|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485950|retained_intron|1/3|n.14G>T|||||| 22 21156388 . C T . . ANN=T|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|14/55|c.1597G>A|p.Gly533Ser|1684/6752|1597/6309|533/2102||,T|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|14/55|c.1423G>A|p.Gly475Ser|1654/6720|1423/6135|475/2044||,T|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485950|retained_intron||n.-1G>A|||||82|,T|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|14/17|n.1684G>A|||||| 22 21156416 . T C . . ANN=C|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485950|retained_intron||n.-1A>G|||||110|,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|13/54|c.1592-23A>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|13/54|c.1418-23A>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|13/16|n.1679-23A>G|||||| 22 21157642 . T C . . ANN=C|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485950|retained_intron||n.-1A>G|||||1336|,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|12/54|c.1462-34A>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|12/54|c.1288-34A>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|12/16|n.1549-34A>G|||||| 22 21158703 . A G . . ANN=G|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485950|retained_intron||n.-1T>C|||||2397|,G|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|11/54|c.1361-15T>C||||||,G|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|11/54|c.1187-15T>C||||||,G|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|11/16|n.1448-15T>C|||||| 22 21159311 . C T . . ANN=T|synonymous_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|11/55|c.1311G>A|p.Ala437Ala|1398/6752|1311/6309|437/2102||,T|synonymous_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|11/55|c.1137G>A|p.Ala379Ala|1368/6720|1137/6135|379/2044||,T|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485950|retained_intron||n.-1G>A|||||3005|,T|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|11/17|n.1398G>A|||||| 22 21159355 . G A . . ANN=A|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|11/55|c.1267C>T|p.Arg423Trp|1354/6752|1267/6309|423/2102||,A|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|11/55|c.1093C>T|p.Arg365Trp|1324/6720|1093/6135|365/2044||,A|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485950|retained_intron||n.-1C>T|||||3049|,A|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|11/17|n.1354C>T|||||| 22 21159437 . A G . . ANN=G|synonymous_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|11/55|c.1185T>C|p.Phe395Phe|1272/6752|1185/6309|395/2102||,G|synonymous_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|11/55|c.1011T>C|p.Phe337Phe|1242/6720|1011/6135|337/2044||,G|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485950|retained_intron||n.-1T>C|||||3131|,G|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|11/17|n.1272T>C|||||| 22 21159480 . C T . . ANN=T|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485950|retained_intron||n.-1G>A|||||3174|,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|10/54|c.1169-27G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|10/54|c.995-27G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|10/16|n.1256-27G>A|||||| 22 21161796 . C T . . ANN=T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|9/54|c.1072-50G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|9/54|c.898-50G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|9/16|n.1159-50G>A|||||| 22 21165248 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|9/54|c.1071+7C>T||||||,A|splice_region_variant&intron_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|9/54|c.897+7C>T||||||,A|splice_region_variant&intron_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|9/16|n.1158+7C>T|||||| 22 21165308 . C T . . ANN=T|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|9/55|c.1018G>A|p.Val340Ile|1105/6752|1018/6309|340/2102||,T|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|9/55|c.844G>A|p.Val282Ile|1075/6720|844/6135|282/2044||,T|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|9/17|n.1105G>A|||||| 22 21165311 . T C . . ANN=C|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|9/55|c.1015A>G|p.Ile339Val|1102/6752|1015/6309|339/2102||,C|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|9/55|c.841A>G|p.Ile281Val|1072/6720|841/6135|281/2044||,C|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|9/17|n.1102A>G|||||| 22 21167605 . G GACA . . ANN=ACA|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|8/54|c.1005+38_1005+40dupTGT||||||,ACA|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|8/54|c.831+38_831+40dupTGT||||||,ACA|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|8/16|n.1092+38_1092+40dupTGT|||||| 22 21167606 . A ACAC . . ANN=CAC|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|8/54|c.1005+39_1005+40insGTG||||||,CAC|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|8/54|c.831+39_831+40insGTG||||||,CAC|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|8/16|n.1092+39_1092+40insGTG|||||| 22 21167607 . C CAAT . . ANN=AAT|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|8/54|c.1005+38_1005+39insATT||||||,AAT|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|8/54|c.831+38_831+39insATT||||||,AAT|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|8/16|n.1092+38_1092+39insATT|||||| 22 21167667 . C T . . ANN=T|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|8/55|c.984G>A|p.Met328Ile|1071/6752|984/6309|328/2102||,T|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|8/55|c.810G>A|p.Met270Ile|1041/6720|810/6135|270/2044||,T|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|8/17|n.1071G>A|||||| 22 21167697 . T C . . ANN=C|synonymous_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|8/55|c.954A>G|p.Thr318Thr|1041/6752|954/6309|318/2102||,C|synonymous_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|8/55|c.780A>G|p.Thr260Thr|1011/6720|780/6135|260/2044||,C|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|8/17|n.1041A>G|||||| 22 21167775 . C T . . ANN=T|synonymous_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|8/55|c.876G>A|p.Gly292Gly|963/6752|876/6309|292/2102||,T|synonymous_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|8/55|c.702G>A|p.Gly234Gly|933/6720|702/6135|234/2044||,T|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|8/17|n.963G>A|||||| 22 21167781 . G A . . ANN=A|synonymous_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|8/55|c.870C>T|p.Pro290Pro|957/6752|870/6309|290/2102||,A|synonymous_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|8/55|c.696C>T|p.Pro232Pro|927/6720|696/6135|232/2044||,A|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|8/17|n.957C>T|||||| 22 21167787 . G A . . ANN=A|synonymous_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|8/55|c.864C>T|p.Cys288Cys|951/6752|864/6309|288/2102||,A|synonymous_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|8/55|c.690C>T|p.Cys230Cys|921/6720|690/6135|230/2044||,A|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|8/17|n.951C>T|||||| 22 21172754 . G A . . ANN=A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|7/54|c.856+17C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|7/54|c.682+17C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|7/16|n.943+17C>T|||||| 22 21172778 . G A . . ANN=A|synonymous_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|7/55|c.849C>T|p.Tyr283Tyr|936/6752|849/6309|283/2102||,A|synonymous_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|7/55|c.675C>T|p.Tyr225Tyr|906/6720|675/6135|225/2044||,A|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|7/17|n.936C>T|||||| 22 21173902 . G C . . ANN=C|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000449120|protein_coding||c.*574C>G|||||4733|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|6/54|c.789+27C>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|6/54|c.615+27C>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|6/16|n.876+27C>G|||||| 22 21174120 . T C . . ANN=C|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|6/55|c.598A>G|p.Met200Val|685/6752|598/6309|200/2102||,C|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|6/55|c.424A>G|p.Met142Val|655/6720|424/6135|142/2044||,C|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000449120|protein_coding||c.*574A>G|||||4515|WARNING_TRANSCRIPT_NO_STOP_CODON,C|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|6/17|n.685A>G|||||| 22 21174798 . T C . . ANN=C|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000449120|protein_coding||c.*574A>G|||||3837|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|5/54|c.529+29A>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|5/54|c.355+29A>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|5/16|n.616+29A>G|||||| 22 21174855 . C A . . ANN=A|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|5/55|c.501G>T|p.Met167Ile|588/6752|501/6309|167/2102||,A|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|5/55|c.327G>T|p.Met109Ile|558/6720|327/6135|109/2044||,A|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000449120|protein_coding||c.*574G>T|||||3780|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|5/17|n.588G>T|||||| 22 21174902 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|4/54|c.457-3C>T||||||,A|splice_region_variant&intron_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|4/54|c.283-3C>T||||||,A|splice_region_variant&intron_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|4/16|n.544-3C>T||||||,A|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000449120|protein_coding||c.*574C>T|||||3733|WARNING_TRANSCRIPT_NO_STOP_CODON 22 21174913 . G A . . ANN=A|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000449120|protein_coding||c.*574C>T|||||3722|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|4/54|c.457-14C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|4/54|c.283-14C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|4/16|n.544-14C>T|||||| 22 21174920 . A AG . . ANN=G|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000449120|protein_coding||c.*574dupC|||||3714|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|4/54|c.457-22dupC||||||,G|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|4/54|c.283-22dupC||||||,G|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|4/16|n.544-22dupC|||||| 22 21174922 . A G . . ANN=G|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000449120|protein_coding||c.*574T>C|||||3713|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|4/54|c.457-23T>C||||||,G|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|4/54|c.283-23T>C||||||,G|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|4/16|n.544-23T>C|||||| 22 21174931 . AC A . . ANN=|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000449120|protein_coding||c.*574delG|||||3703|WARNING_TRANSCRIPT_NO_STOP_CODON,|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|4/54|c.457-33delG||||||,|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|4/54|c.283-33delG||||||,|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|4/16|n.544-33delG|||||| 22 21178578 . T C . . ANN=C|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000449120|protein_coding||c.*574A>G|||||57|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|4/54|c.456+36A>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|4/54|c.282+36A>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|4/16|n.543+36A>G|||||| 22 21178633 . T C . . ANN=C|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|4/55|c.437A>G|p.Asp146Gly|524/6752|437/6309|146/2102||,C|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|4/55|c.263A>G|p.Asp88Gly|494/6720|263/6135|88/2044||,C|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000449120|protein_coding||c.*574A>G|||||2|WARNING_TRANSCRIPT_NO_STOP_CODON,C|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|4/17|n.524A>G|||||| 22 21178723 . A C . . ANN=C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|3/54|c.368-21T>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|3/54|c.194-21T>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|3/16|n.455-21T>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000449120|protein_coding|3/3|c.194-21T>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 21188819 . T C . . ANN=C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|3/54|c.367+31A>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|3/54|c.193+31A>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|3/16|n.454+31A>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000449120|protein_coding|3/3|c.193+31A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 21188823 . T C . . ANN=C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|3/54|c.367+27A>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|3/54|c.193+27A>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|3/16|n.454+27A>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000449120|protein_coding|3/3|c.193+27A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 21188928 . C T . . ANN=T|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|3/55|c.289G>A|p.Val97Ile|376/6752|289/6309|97/2102||,T|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|3/55|c.115G>A|p.Val39Ile|346/6720|115/6135|39/2044||,T|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000449120|protein_coding|3/4|c.115G>A|p.Val39Ile|428/574|115/261|39/86||WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|3/17|n.376G>A|||||| 22 21188955 . T G . . ANN=G|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|2/54|c.274-12A>C||||||,G|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|2/54|c.100-12A>C||||||,G|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|2/16|n.361-12A>C||||||,G|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000449120|protein_coding|2/3|c.100-12A>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 21188961 . G T . . ANN=T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|2/54|c.274-18C>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|2/54|c.100-18C>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|2/16|n.361-18C>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000449120|protein_coding|2/3|c.100-18C>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 21188964 . T C . . ANN=C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|2/54|c.274-21A>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|2/54|c.100-21A>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|2/16|n.361-21A>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000449120|protein_coding|2/3|c.100-21A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 21213367 . C G . . ANN=G|5_prime_UTR_premature_start_codon_gain_variant|LOW|SNAP29|ENSG00000099940|transcript|ENST00000215730|protein_coding|1/5|c.-32C>G||||||,G|5_prime_UTR_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000215730|protein_coding|1/5|c.-32C>G|||||32|,G|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding||c.-88G>C|||||267|,G|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding||c.-232G>C|||||297|,G|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron||n.-1G>C|||||267|,G|upstream_gene_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000490458|retained_intron||n.-1C>G|||||2|,G|upstream_gene_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000439214|protein_coding||c.-201C>G|||||404|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000449120|protein_coding|1/3|c.-19+44G>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 21213380 . C T . . ANN=T|5_prime_UTR_premature_start_codon_gain_variant|LOW|SNAP29|ENSG00000099940|transcript|ENST00000215730|protein_coding|1/5|c.-19C>T||||||,T|5_prime_UTR_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000215730|protein_coding|1/5|c.-19C>T|||||19|,T|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding||c.-88G>A|||||280|,T|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding||c.-232G>A|||||310|,T|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron||n.-1G>A|||||280|,T|upstream_gene_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000439214|protein_coding||c.-201C>T|||||391|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000449120|protein_coding|1/3|c.-19+31G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000490458|retained_intron|1/2|n.12C>T|||||| 22 21213391 . C G . . ANN=G|5_prime_UTR_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000215730|protein_coding|1/5|c.-8C>G|||||8|,G|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding||c.-88G>C|||||291|,G|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding||c.-232G>C|||||321|,G|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron||n.-1G>C|||||291|,G|upstream_gene_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000439214|protein_coding||c.-201C>G|||||380|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000449120|protein_coding|1/3|c.-19+20G>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|non_coding_exon_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000490458|retained_intron|1/2|n.23C>G|||||| 22 21213394 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000215730|protein_coding|1/5|c.-5G>A|||||5|,A|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding||c.-88C>T|||||294|,A|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding||c.-232C>T|||||324|,A|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron||n.-1C>T|||||294|,A|upstream_gene_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000439214|protein_coding||c.-201G>A|||||377|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000449120|protein_coding|1/3|c.-19+17C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000490458|retained_intron|1/2|n.26G>A|||||| 22 21213416 . A G . . ANN=G|synonymous_variant|LOW|SNAP29|ENSG00000099940|transcript|ENST00000215730|protein_coding|1/5|c.18A>G|p.Lys6Lys|146/4287|18/777|6/258||,G|5_prime_UTR_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000449120|protein_coding|1/4|c.-24T>C|||||20415|WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding||c.-88T>C|||||316|,G|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding||c.-232T>C|||||346|,G|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron||n.-1T>C|||||316|,G|upstream_gene_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000439214|protein_coding||c.-201A>G|||||355|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000490458|retained_intron|1/2|n.48A>G|||||| 22 21213463 . C T . . ANN=T|missense_variant|MODERATE|SNAP29|ENSG00000099940|transcript|ENST00000215730|protein_coding|1/5|c.65C>T|p.Pro22Leu|193/4287|65/777|22/258||,T|5_prime_UTR_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000449120|protein_coding|1/4|c.-71G>A|||||20462|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding||c.-88G>A|||||363|,T|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding||c.-232G>A|||||393|,T|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron||n.-1G>A|||||363|,T|upstream_gene_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000439214|protein_coding||c.-201C>T|||||308|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000490458|retained_intron|1/2|n.95C>T|||||| 22 21213470 . T A . . ANN=A|synonymous_variant|LOW|SNAP29|ENSG00000099940|transcript|ENST00000215730|protein_coding|1/5|c.72T>A|p.Pro24Pro|200/4287|72/777|24/258||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|PI4KA|ENSG00000241973|transcript|ENST00000449120|protein_coding|1/4|c.-78A>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|5_prime_UTR_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000449120|protein_coding|1/4|c.-78A>T|||||20469|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding||c.-88A>T|||||370|,A|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding||c.-232A>T|||||400|,A|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron||n.-1A>T|||||370|,A|upstream_gene_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000439214|protein_coding||c.-201T>A|||||301|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000490458|retained_intron|1/2|n.102T>A|||||| 22 21213479 . C G . . ANN=G|missense_variant|MODERATE|SNAP29|ENSG00000099940|transcript|ENST00000215730|protein_coding|1/5|c.81C>G|p.Asp27Glu|209/4287|81/777|27/258||,G|5_prime_UTR_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000449120|protein_coding|1/4|c.-87G>C|||||20478|WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding||c.-88G>C|||||379|,G|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding||c.-232G>C|||||409|,G|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron||n.-1G>C|||||379|,G|upstream_gene_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000439214|protein_coding||c.-201C>G|||||292|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000490458|retained_intron|1/2|n.111C>G|||||| 22 21213511 . C T . . ANN=T|missense_variant|MODERATE|SNAP29|ENSG00000099940|transcript|ENST00000215730|protein_coding|1/5|c.113C>T|p.Pro38Leu|241/4287|113/777|38/258||,T|5_prime_UTR_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000449120|protein_coding|1/4|c.-119G>A|||||20510|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding||c.-88G>A|||||411|,T|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding||c.-232G>A|||||441|,T|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron||n.-1G>A|||||411|,T|upstream_gene_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000439214|protein_coding||c.-201C>T|||||260|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000490458|retained_intron|1/2|n.143C>T|||||| 22 21213516 . G A . . ANN=A|missense_variant|MODERATE|SNAP29|ENSG00000099940|transcript|ENST00000215730|protein_coding|1/5|c.118G>A|p.Asp40Asn|246/4287|118/777|40/258||,A|5_prime_UTR_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000449120|protein_coding|1/4|c.-124C>T|||||20515|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding||c.-88C>T|||||416|,A|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding||c.-232C>T|||||446|,A|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron||n.-1C>T|||||416|,A|upstream_gene_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000439214|protein_coding||c.-201G>A|||||255|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000490458|retained_intron|1/2|n.148G>A|||||| 22 21213528 . T C . . ANN=C|missense_variant|MODERATE|SNAP29|ENSG00000099940|transcript|ENST00000215730|protein_coding|1/5|c.130T>C|p.Tyr44His|258/4287|130/777|44/258||,C|5_prime_UTR_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000449120|protein_coding|1/4|c.-136A>G|||||20527|WARNING_TRANSCRIPT_NO_STOP_CODON,C|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding||c.-88A>G|||||428|,C|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding||c.-232A>G|||||458|,C|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron||n.-1A>G|||||428|,C|upstream_gene_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000439214|protein_coding||c.-201T>C|||||243|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000490458|retained_intron|1/2|n.160T>C|||||| 22 21224575 . G A . . ANN=A|sequence_feature|LOW|SNAP29|ENSG00000099940|coiled-coil_region|ENST00000215730|protein_coding|1/5|c.238-50G>A||||||,A|sequence_feature|LOW|SNAP29|ENSG00000099940|coiled-coil_region|ENST00000215730|protein_coding|2/5|c.238-50G>A||||||,A|intron_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000215730|protein_coding|1/4|c.238-50G>A||||||,A|intron_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000490458|retained_intron|1/1|n.268-50G>A||||||,A|intron_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000439214|protein_coding|1/4|c.-42-50G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 21224581 . G A . . ANN=A|sequence_feature|LOW|SNAP29|ENSG00000099940|coiled-coil_region|ENST00000215730|protein_coding|1/5|c.238-44G>A||||||,A|sequence_feature|LOW|SNAP29|ENSG00000099940|coiled-coil_region|ENST00000215730|protein_coding|2/5|c.238-44G>A||||||,A|intron_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000215730|protein_coding|1/4|c.238-44G>A||||||,A|intron_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000490458|retained_intron|1/1|n.268-44G>A||||||,A|intron_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000439214|protein_coding|1/4|c.-42-44G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 21224646 . G A . . ANN=A|missense_variant|MODERATE|SNAP29|ENSG00000099940|transcript|ENST00000215730|protein_coding|2/5|c.259G>A|p.Val87Ile|387/4287|259/777|87/258||,A|sequence_feature|LOW|SNAP29|ENSG00000099940|coiled-coil_region|ENST00000215730|protein_coding|1/5|c.259G>A||||||,A|sequence_feature|LOW|SNAP29|ENSG00000099940|coiled-coil_region|ENST00000215730|protein_coding|2/5|c.259G>A||||||,A|5_prime_UTR_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000439214|protein_coding|2/5|c.-21G>A|||||21|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000490458|retained_intron|2/2|n.289G>A|||||| 22 21224652 . G A . . ANN=A|missense_variant|MODERATE|SNAP29|ENSG00000099940|transcript|ENST00000215730|protein_coding|2/5|c.265G>A|p.Glu89Lys|393/4287|265/777|89/258||,A|sequence_feature|LOW|SNAP29|ENSG00000099940|coiled-coil_region|ENST00000215730|protein_coding|1/5|c.265G>A||||||,A|sequence_feature|LOW|SNAP29|ENSG00000099940|coiled-coil_region|ENST00000215730|protein_coding|2/5|c.265G>A||||||,A|5_prime_UTR_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000439214|protein_coding|2/5|c.-15G>A|||||15|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000490458|retained_intron|2/2|n.295G>A|||||| 22 21224705 . G C . . ANN=C|missense_variant|MODERATE|SNAP29|ENSG00000099940|transcript|ENST00000215730|protein_coding|2/5|c.318G>C|p.Gln106His|446/4287|318/777|106/258||,C|missense_variant|MODERATE|SNAP29|ENSG00000099940|transcript|ENST00000439214|protein_coding|2/5|c.39G>C|p.Gln13His|239/681|39/481|13/159||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|SNAP29|ENSG00000099940|coiled-coil_region|ENST00000215730|protein_coding|1/5|c.318G>C||||||,C|sequence_feature|LOW|SNAP29|ENSG00000099940|coiled-coil_region|ENST00000215730|protein_coding|2/5|c.318G>C||||||,C|non_coding_exon_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000490458|retained_intron|2/2|n.348G>C|||||| 22 21224845 . G A . . ANN=A|intron_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000215730|protein_coding|2/4|c.434+24G>A||||||,A|intron_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000439214|protein_coding|2/4|c.155+24G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000490458|retained_intron|2/2|n.488G>A|||||| 22 21235306 . C T . . ANN=T|intron_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000215730|protein_coding|2/4|c.435-31C>T||||||,T|intron_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000439214|protein_coding|2/4|c.156-31C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 21235389 . A G . . ANN=G|missense_variant|MODERATE|SNAP29|ENSG00000099940|transcript|ENST00000215730|protein_coding|3/5|c.487A>G|p.Ser163Gly|615/4287|487/777|163/258||,G|missense_variant|MODERATE|SNAP29|ENSG00000099940|transcript|ENST00000439214|protein_coding|3/5|c.208A>G|p.Ser70Gly|408/681|208/481|70/159||WARNING_TRANSCRIPT_INCOMPLETE 22 21235417 . A C . . ANN=C|missense_variant|MODERATE|SNAP29|ENSG00000099940|transcript|ENST00000215730|protein_coding|3/5|c.515A>C|p.Asp172Ala|643/4287|515/777|172/258||,C|missense_variant|MODERATE|SNAP29|ENSG00000099940|transcript|ENST00000439214|protein_coding|3/5|c.236A>C|p.Asp79Ala|436/681|236/481|79/159||WARNING_TRANSCRIPT_INCOMPLETE 22 21237751 . A T . . ANN=T|splice_region_variant&intron_variant|LOW|SNAP29|ENSG00000099940|transcript|ENST00000215730|protein_coding|3/4|c.521-8A>T||||||,T|splice_region_variant&intron_variant|LOW|SNAP29|ENSG00000099940|transcript|ENST00000439214|protein_coding|3/4|c.242-8A>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 21237816 . C G . . ANN=G|missense_variant|MODERATE|SNAP29|ENSG00000099940|transcript|ENST00000215730|protein_coding|4/5|c.578C>G|p.Pro193Arg|706/4287|578/777|193/258||,G|missense_variant|MODERATE|SNAP29|ENSG00000099940|transcript|ENST00000439214|protein_coding|4/5|c.299C>G|p.Pro100Arg|499/681|299/481|100/159||WARNING_TRANSCRIPT_INCOMPLETE 22 21237874 . C T . . ANN=T|sequence_feature|LOW|SNAP29|ENSG00000099940|domain:t-SNARE_coiled-coil_homology|ENST00000215730|protein_coding|4/5|c.619+17C>T||||||,T|sequence_feature|LOW|SNAP29|ENSG00000099940|domain:t-SNARE_coiled-coil_homology|ENST00000215730|protein_coding|5/5|c.619+17C>T||||||,T|intron_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000215730|protein_coding|4/4|c.619+17C>T||||||,T|intron_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000439214|protein_coding|4/4|c.340+17C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 21241923 . G A . . ANN=A|sequence_feature|LOW|SNAP29|ENSG00000099940|domain:t-SNARE_coiled-coil_homology|ENST00000215730|protein_coding|4/5|c.620-44G>A||||||,A|sequence_feature|LOW|SNAP29|ENSG00000099940|domain:t-SNARE_coiled-coil_homology|ENST00000215730|protein_coding|5/5|c.620-44G>A||||||,A|downstream_gene_variant|MODIFIER|AC007308.7|ENSG00000272600|transcript|ENST00000608856|antisense||n.*373C>T|||||1571|,A|intron_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000215730|protein_coding|4/4|c.620-44G>A||||||,A|intron_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000439214|protein_coding|4/4|c.341-44G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 21241945 . G A . . ANN=A|sequence_feature|LOW|SNAP29|ENSG00000099940|domain:t-SNARE_coiled-coil_homology|ENST00000215730|protein_coding|4/5|c.620-22G>A||||||,A|sequence_feature|LOW|SNAP29|ENSG00000099940|domain:t-SNARE_coiled-coil_homology|ENST00000215730|protein_coding|5/5|c.620-22G>A||||||,A|downstream_gene_variant|MODIFIER|AC007308.7|ENSG00000272600|transcript|ENST00000608856|antisense||n.*373C>T|||||1549|,A|intron_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000215730|protein_coding|4/4|c.620-22G>A||||||,A|intron_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000439214|protein_coding|4/4|c.341-22G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 21241954 . C T . . ANN=T|sequence_feature|LOW|SNAP29|ENSG00000099940|domain:t-SNARE_coiled-coil_homology|ENST00000215730|protein_coding|4/5|c.620-13C>T||||||,T|sequence_feature|LOW|SNAP29|ENSG00000099940|domain:t-SNARE_coiled-coil_homology|ENST00000215730|protein_coding|5/5|c.620-13C>T||||||,T|downstream_gene_variant|MODIFIER|AC007308.7|ENSG00000272600|transcript|ENST00000608856|antisense||n.*373G>A|||||1540|,T|intron_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000215730|protein_coding|4/4|c.620-13C>T||||||,T|intron_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000439214|protein_coding|4/4|c.341-13C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 21241960 . C G . . ANN=G|splice_region_variant&intron_variant|LOW|SNAP29|ENSG00000099940|transcript|ENST00000215730|protein_coding|4/4|c.620-7C>G||||||,G|splice_region_variant&intron_variant|LOW|SNAP29|ENSG00000099940|transcript|ENST00000439214|protein_coding|4/4|c.341-7C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|SNAP29|ENSG00000099940|domain:t-SNARE_coiled-coil_homology|ENST00000215730|protein_coding|4/5|c.620-7C>G||||||,G|sequence_feature|LOW|SNAP29|ENSG00000099940|domain:t-SNARE_coiled-coil_homology|ENST00000215730|protein_coding|5/5|c.620-7C>G||||||,G|downstream_gene_variant|MODIFIER|AC007308.7|ENSG00000272600|transcript|ENST00000608856|antisense||n.*373G>C|||||1534| 22 21241970 . A T . . ANN=T|missense_variant|MODERATE|SNAP29|ENSG00000099940|transcript|ENST00000215730|protein_coding|5/5|c.623A>T|p.Glu208Val|751/4287|623/777|208/258||,T|missense_variant|MODERATE|SNAP29|ENSG00000099940|transcript|ENST00000439214|protein_coding|5/5|c.344A>T|p.Glu115Val|544/681|344/481|115/159||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|SNAP29|ENSG00000099940|domain:t-SNARE_coiled-coil_homology|ENST00000215730|protein_coding|4/5|c.623A>T||||||,T|sequence_feature|LOW|SNAP29|ENSG00000099940|domain:t-SNARE_coiled-coil_homology|ENST00000215730|protein_coding|5/5|c.623A>T||||||,T|downstream_gene_variant|MODIFIER|AC007308.7|ENSG00000272600|transcript|ENST00000608856|antisense||n.*373T>A|||||1524| 22 21241976 . C T . . ANN=T|missense_variant|MODERATE|SNAP29|ENSG00000099940|transcript|ENST00000215730|protein_coding|5/5|c.629C>T|p.Ser210Phe|757/4287|629/777|210/258||,T|missense_variant|MODERATE|SNAP29|ENSG00000099940|transcript|ENST00000439214|protein_coding|5/5|c.350C>T|p.Ser117Phe|550/681|350/481|117/159||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|SNAP29|ENSG00000099940|domain:t-SNARE_coiled-coil_homology|ENST00000215730|protein_coding|4/5|c.629C>T||||||,T|sequence_feature|LOW|SNAP29|ENSG00000099940|domain:t-SNARE_coiled-coil_homology|ENST00000215730|protein_coding|5/5|c.629C>T||||||,T|downstream_gene_variant|MODIFIER|AC007308.7|ENSG00000272600|transcript|ENST00000608856|antisense||n.*373G>A|||||1518| 22 21242095 . A C . . ANN=C|missense_variant|MODERATE|SNAP29|ENSG00000099940|transcript|ENST00000215730|protein_coding|5/5|c.748A>C|p.Ser250Arg|876/4287|748/777|250/258||,C|missense_variant|MODERATE|SNAP29|ENSG00000099940|transcript|ENST00000439214|protein_coding|5/5|c.469A>C|p.Ser157Arg|669/681|469/481|157/159||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|SNAP29|ENSG00000099940|domain:t-SNARE_coiled-coil_homology|ENST00000215730|protein_coding|4/5|c.748A>C||||||,C|sequence_feature|LOW|SNAP29|ENSG00000099940|domain:t-SNARE_coiled-coil_homology|ENST00000215730|protein_coding|5/5|c.748A>C||||||,C|downstream_gene_variant|MODIFIER|AC007308.7|ENSG00000272600|transcript|ENST00000608856|antisense||n.*373T>G|||||1399| 22 21242113 . C T . . ANN=T|stop_gained|HIGH|SNAP29|ENSG00000099940|transcript|ENST00000215730|protein_coding|5/5|c.766C>T|p.Arg256*|894/4287|766/777|256/258||,T|sequence_feature|LOW|SNAP29|ENSG00000099940|domain:t-SNARE_coiled-coil_homology|ENST00000215730|protein_coding|4/5|c.766C>T||||||,T|sequence_feature|LOW|SNAP29|ENSG00000099940|domain:t-SNARE_coiled-coil_homology|ENST00000215730|protein_coding|5/5|c.766C>T||||||,T|downstream_gene_variant|MODIFIER|AC007308.7|ENSG00000272600|transcript|ENST00000608856|antisense||n.*373G>A|||||1381|,T|downstream_gene_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000439214|protein_coding||c.*681C>T|||||6|WARNING_TRANSCRIPT_INCOMPLETE 22 21242150 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000215730|protein_coding|5/5|c.*26T>C|||||26|,C|downstream_gene_variant|MODIFIER|AC007308.7|ENSG00000272600|transcript|ENST00000608856|antisense||n.*373A>G|||||1344|,C|downstream_gene_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000439214|protein_coding||c.*681T>C|||||43|WARNING_TRANSCRIPT_INCOMPLETE 22 21272182 . A G . . ANN=G|5_prime_UTR_variant|MODIFIER|CRKL|ENSG00000099942|transcript|ENST00000354336|protein_coding|1/3|c.-41A>G|||||41|,G|5_prime_UTR_variant|MODIFIER|CRKL|ENSG00000099942|transcript|ENST00000411769|nonsense_mediated_decay|1/4|n.-41A>G|||||41|,G|non_coding_exon_variant|MODIFIER|CRKL|ENSG00000099942|transcript|ENST00000411769|nonsense_mediated_decay|1/4|n.-41A>G|||||| 22 21272258 . C T . . ANN=T|synonymous_variant|LOW|CRKL|ENSG00000099942|transcript|ENST00000354336|protein_coding|1/3|c.36C>T|p.Ser12Ser|545/5325|36/912|12/303||,T|TF_binding_site_variant|MODIFIER|||Nrsf|MA0138.2|||||||||,T|non_coding_exon_variant|MODIFIER|CRKL|ENSG00000099942|transcript|ENST00000411769|nonsense_mediated_decay|1/4|n.36C>T|||||| 22 21272300 . C G . . ANN=G|synonymous_variant|LOW|CRKL|ENSG00000099942|transcript|ENST00000354336|protein_coding|1/3|c.78C>G|p.Thr26Thr|587/5325|78/912|26/303||,G|TF_binding_site_variant|MODIFIER|||Nrsf|MA0138.2|||||||||,G|TF_binding_site_variant|MODIFIER|||Nrsf|MA0138.1|||||||||,G|non_coding_exon_variant|MODIFIER|CRKL|ENSG00000099942|transcript|ENST00000411769|nonsense_mediated_decay|1/4|n.78C>G|||||| 22 21288324 . A G . . ANN=G|missense_variant|MODERATE|CRKL|ENSG00000099942|transcript|ENST00000354336|protein_coding|2/3|c.569A>G|p.His190Arg|1078/5325|569/912|190/303||,G|non_coding_exon_variant|MODIFIER|CRKL|ENSG00000099942|transcript|ENST00000411769|nonsense_mediated_decay|2/4|n.569A>G|||||| 22 21288416 . G A . . ANN=A|missense_variant|MODERATE|CRKL|ENSG00000099942|transcript|ENST00000354336|protein_coding|2/3|c.661G>A|p.Gly221Ser|1170/5325|661/912|221/303||,A|non_coding_exon_variant|MODIFIER|CRKL|ENSG00000099942|transcript|ENST00000411769|nonsense_mediated_decay|2/4|n.661G>A|||||| 22 21303949 . C CTT . . ANN=TT|intron_variant|MODIFIER|CRKL|ENSG00000099942|transcript|ENST00000354336|protein_coding|2/2|c.778-46_778-45dupTT||||||INFO_REALIGN_3_PRIME,TT|intron_variant|MODIFIER|CRKL|ENSG00000099942|transcript|ENST00000411769|nonsense_mediated_decay|2/3|n.778-46_778-45dupTT||||||INFO_REALIGN_3_PRIME 22 21303955 . CTTG C . . ANN=|intron_variant|MODIFIER|CRKL|ENSG00000099942|transcript|ENST00000354336|protein_coding|2/2|c.778-40_778-38delTTG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|CRKL|ENSG00000099942|transcript|ENST00000411769|nonsense_mediated_decay|2/3|n.778-40_778-38delTTG||||||INFO_REALIGN_3_PRIME 22 21304158 . CT C . . ANN=|3_prime_UTR_variant|MODIFIER|CRKL|ENSG00000099942|transcript|ENST00000354336|protein_coding|3/3|c.*28delT|||||28|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|CRKL|ENSG00000099942|transcript|ENST00000411769|nonsense_mediated_decay|3/4|n.*28delT|||||28|INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|CRKL|ENSG00000099942|transcript|ENST00000411769|nonsense_mediated_decay|3/4|n.*28delT||||||INFO_REALIGN_3_PRIME 22 21322238 . C T . . ANN=T|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|2/19|c.80C>T|p.Ala27Val|187/2157|80/1761|27/586||,T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|2/21|c.6C>T|p.Gly2Gly|246/2387|6/1818|2/605||,T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|2/20|c.6C>T|p.Gly2Gly|191/2309|6/1797|2/598||,T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding|3/6|c.6C>T|p.Gly2Gly|223/606|6/389|2/128||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding|2/10|c.6C>T|p.Gly2Gly|291/1094|6/809|2/268||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|2/20|c.6C>T|p.Gly2Gly|195/2333|6/1815|2/604||,T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|1/19|c.6C>T|p.Gly2Gly|149/2230|6/1797|2/598||,T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|1/20|c.6C>T|p.Gly2Gly|149/2251|6/1818|2/605||,T|downstream_gene_variant|MODIFIER|XXbac-B135H6.15|ENSG00000237476|transcript|ENST00000444039|lincRNA||n.*684C>T|||||3271|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000479523|retained_intron||n.*562C>T|||||914|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000495869|retained_intron||n.*501C>T|||||1152|,T|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay|2/7|n.6C>T||||||,T|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron|2/3|n.182C>T||||||,T|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron|3/4|n.218C>T||||||,T|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay|2/5|n.6C>T||||||,T|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript|2/5|n.201C>T||||||,T|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron|2/3|n.195C>T||||||,T|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript|2/5|n.199C>T|||||| 22 21322243 . G C . . ANN=C|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|2/21|c.11G>C|p.Cys4Ser|251/2387|11/1818|4/605||,C|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|2/20|c.11G>C|p.Cys4Ser|196/2309|11/1797|4/598||,C|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding|3/6|c.11G>C|p.Cys4Ser|228/606|11/389|4/128||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding|2/10|c.11G>C|p.Cys4Ser|296/1094|11/809|4/268||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|2/20|c.11G>C|p.Cys4Ser|200/2333|11/1815|4/604||,C|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|2/19|c.85G>C|p.Ala29Pro|192/2157|85/1761|29/586||,C|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|1/19|c.11G>C|p.Cys4Ser|154/2230|11/1797|4/598||,C|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|1/20|c.11G>C|p.Cys4Ser|154/2251|11/1818|4/605||,C|downstream_gene_variant|MODIFIER|XXbac-B135H6.15|ENSG00000237476|transcript|ENST00000444039|lincRNA||n.*684G>C|||||3276|,C|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000479523|retained_intron||n.*562G>C|||||919|,C|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000495869|retained_intron||n.*501G>C|||||1157|,C|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay|2/7|n.11G>C||||||,C|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron|2/3|n.187G>C||||||,C|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron|3/4|n.223G>C||||||,C|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay|2/5|n.11G>C||||||,C|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript|2/5|n.206G>C||||||,C|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron|2/3|n.200G>C||||||,C|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript|2/5|n.204G>C|||||| 22 21327589 . C T . . ANN=T|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|3/20|c.43C>T|p.Pro15Ser|232/2333|43/1815|15/604||,T|splice_region_variant&intron_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|2/20|c.32-7C>T||||||,T|splice_region_variant&intron_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|2/19|c.32-7C>T||||||,T|splice_region_variant&intron_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay|2/6|n.32-7C>T||||||,T|splice_region_variant&intron_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron|2/2|n.208-7C>T||||||,T|splice_region_variant&intron_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding|3/5|c.32-7C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|splice_region_variant&intron_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron|3/3|n.244-7C>T||||||,T|splice_region_variant&intron_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding|2/9|c.32-7C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|splice_region_variant&intron_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript|2/4|n.227-7C>T||||||,T|splice_region_variant&intron_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron|2/2|n.221-7C>T||||||,T|splice_region_variant&intron_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript|2/4|n.225-7C>T||||||,T|splice_region_variant&intron_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|2/18|c.106-7C>T||||||,T|splice_region_variant&intron_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|1/18|c.32-7C>T||||||,T|splice_region_variant&intron_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|1/19|c.32-7C>T||||||,T|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript||n.-1C>T|||||1213|,T|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript||n.-1C>T|||||2392|,T|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.-1C>T|||||3573|,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay|2/4|n.32-71C>T|||||| 22 21327642 . G A . . ANN=A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|3/19|c.152G>A|p.Arg51Lys|259/2157|152/1761|51/586||,A|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|3/21|c.78G>A|p.Lys26Lys|318/2387|78/1818|26/605||,A|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|3/20|c.78G>A|p.Lys26Lys|263/2309|78/1797|26/598||,A|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding|4/6|c.78G>A|p.Lys26Lys|295/606|78/389|26/128||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding|3/10|c.78G>A|p.Lys26Lys|363/1094|78/809|26/268||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|3/20|c.96G>A|p.Lys32Lys|285/2333|96/1815|32/604||,A|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|2/19|c.78G>A|p.Lys26Lys|221/2230|78/1797|26/598||,A|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|2/20|c.78G>A|p.Lys26Lys|221/2251|78/1818|26/605||,A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript||n.-1G>A|||||1160|,A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript||n.-1G>A|||||2339|,A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.-1G>A|||||3520|,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay|2/4|n.32-18G>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay|3/7|n.78G>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron|3/3|n.254G>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron|4/4|n.290G>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript|3/5|n.273G>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron|3/3|n.267G>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript|3/5|n.271G>A|||||| 22 21327798 . C A . . ANN=A|stop_gained|HIGH|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|3/19|c.308C>A|p.Ser103*|415/2157|308/1761|103/586||,A|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|3/21|c.234C>A|p.Leu78Leu|474/2387|234/1818|78/605||,A|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|3/20|c.234C>A|p.Leu78Leu|419/2309|234/1797|78/598||,A|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding|4/6|c.234C>A|p.Leu78Leu|451/606|234/389|78/128||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding|3/10|c.234C>A|p.Leu78Leu|519/1094|234/809|78/268||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|3/20|c.252C>A|p.Leu84Leu|441/2333|252/1815|84/604||,A|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|2/19|c.234C>A|p.Leu78Leu|377/2230|234/1797|78/598||,A|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|2/20|c.234C>A|p.Leu78Leu|377/2251|234/1818|78/605||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|3/20|c.252C>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|5/20|c.252C>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|6/20|c.252C>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|4/20|c.252C>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|2/19|c.234C>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|4/19|c.234C>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|5/19|c.234C>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|3/19|c.234C>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|2/20|c.234C>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|4/20|c.234C>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|5/20|c.234C>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|3/20|c.234C>A||||||,A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript||n.-1C>A|||||1004|,A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript||n.-1C>A|||||2183|,A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.-1C>A|||||3364|,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay|3/7|n.234C>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron|3/3|n.410C>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron|4/4|n.446C>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay|3/5|n.170C>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript|3/5|n.429C>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron|3/3|n.423C>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript|3/5|n.427C>A||||||;LOF=(AIFM3|ENSG00000183773|20|0.05);NMD=(AIFM3|ENSG00000183773|20|0.05) 22 21327834 . C G . . ANN=G|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|3/20|c.263+25C>G||||||,G|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|5/20|c.263+25C>G||||||,G|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|6/20|c.263+25C>G||||||,G|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|4/20|c.263+25C>G||||||,G|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|2/19|c.245+25C>G||||||,G|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|4/19|c.245+25C>G||||||,G|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|5/19|c.245+25C>G||||||,G|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|3/19|c.245+25C>G||||||,G|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|2/20|c.245+25C>G||||||,G|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|4/20|c.245+25C>G||||||,G|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|5/20|c.245+25C>G||||||,G|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|3/20|c.245+25C>G||||||,G|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript||n.-1C>G|||||968|,G|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript||n.-1C>G|||||2147|,G|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.-1C>G|||||3328|,G|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|3/20|c.245+25C>G||||||,G|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|3/19|c.245+25C>G||||||,G|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay|3/6|n.245+25C>G||||||,G|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding|4/5|c.245+25C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding|3/9|c.245+25C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay|3/4|n.181+25C>G||||||,G|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript|3/4|n.440+25C>G||||||,G|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|3/19|c.263+25C>G||||||,G|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript|3/4|n.438+25C>G||||||,G|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|3/18|c.319+25C>G||||||,G|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|2/18|c.245+25C>G||||||,G|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|2/19|c.245+25C>G||||||,G|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron|3/3|n.446C>G||||||,G|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron|4/4|n.482C>G||||||,G|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron|3/3|n.459C>G|||||| 22 21327836 . G A . . ANN=A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|3/20|c.263+27G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|5/20|c.263+27G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|6/20|c.263+27G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|4/20|c.263+27G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|2/19|c.245+27G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|4/19|c.245+27G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|5/19|c.245+27G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|3/19|c.245+27G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|2/20|c.245+27G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|4/20|c.245+27G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|5/20|c.245+27G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|3/20|c.245+27G>A||||||,A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript||n.-1G>A|||||966|,A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript||n.-1G>A|||||2145|,A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.-1G>A|||||3326|,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|3/20|c.245+27G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|3/19|c.245+27G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay|3/6|n.245+27G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding|4/5|c.245+27G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding|3/9|c.245+27G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay|3/4|n.181+27G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript|3/4|n.440+27G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|3/19|c.263+27G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript|3/4|n.438+27G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|3/18|c.319+27G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|2/18|c.245+27G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|2/19|c.245+27G>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron|3/3|n.448G>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron|4/4|n.484G>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron|3/3|n.461G>A|||||| 22 21328017 . G T . . ANN=T|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|3/20|c.264-30G>T||||||,T|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|5/20|c.264-30G>T||||||,T|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|6/20|c.264-30G>T||||||,T|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|4/20|c.264-30G>T||||||,T|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|2/19|c.246-30G>T||||||,T|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|4/19|c.246-30G>T||||||,T|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|5/19|c.246-30G>T||||||,T|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|3/19|c.246-30G>T||||||,T|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|2/20|c.246-30G>T||||||,T|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|4/20|c.246-30G>T||||||,T|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|5/20|c.246-30G>T||||||,T|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|3/20|c.246-30G>T||||||,T|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript||n.-1G>T|||||785|,T|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript||n.-1G>T|||||1964|,T|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.-1G>T|||||3145|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546G>T|||||83|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556G>T|||||109|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592G>T|||||50|,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|3/20|c.246-30G>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|3/19|c.246-30G>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay|3/6|n.245+208G>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding|4/5|c.246-30G>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding|3/9|c.246-30G>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay|3/4|n.182-30G>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript|3/4|n.440+208G>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|3/19|c.264-30G>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript|3/4|n.438+208G>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|3/18|c.319+208G>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|2/18|c.246-30G>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|2/19|c.246-30G>T|||||| 22 21328036 . C T . . ANN=T|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|3/20|c.264-11C>T||||||,T|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|5/20|c.264-11C>T||||||,T|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|6/20|c.264-11C>T||||||,T|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|4/20|c.264-11C>T||||||,T|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|2/19|c.246-11C>T||||||,T|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|4/19|c.246-11C>T||||||,T|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|5/19|c.246-11C>T||||||,T|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|3/19|c.246-11C>T||||||,T|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|2/20|c.246-11C>T||||||,T|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|4/20|c.246-11C>T||||||,T|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|5/20|c.246-11C>T||||||,T|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|3/20|c.246-11C>T||||||,T|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript||n.-1C>T|||||766|,T|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript||n.-1C>T|||||1945|,T|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.-1C>T|||||3126|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546C>T|||||102|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556C>T|||||128|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592C>T|||||69|,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|3/20|c.246-11C>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|3/19|c.246-11C>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay|3/6|n.245+227C>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding|4/5|c.246-11C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding|3/9|c.246-11C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay|3/4|n.182-11C>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript|3/4|n.440+227C>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|3/19|c.264-11C>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript|3/4|n.438+227C>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|3/18|c.319+227C>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|2/18|c.246-11C>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|2/19|c.246-11C>T|||||| 22 21328131 . G A . . ANN=A|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|4/21|c.330G>A|p.Pro110Pro|570/2387|330/1818|110/605||,A|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|4/20|c.330G>A|p.Pro110Pro|515/2309|330/1797|110/598||,A|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding|5/6|c.330G>A|p.Pro110Pro|547/606|330/389|110/128||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding|4/10|c.330G>A|p.Pro110Pro|615/1094|330/809|110/268||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|4/20|c.348G>A|p.Pro116Pro|537/2333|348/1815|116/604||,A|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|3/19|c.330G>A|p.Pro110Pro|473/2230|330/1797|110/598||,A|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|3/20|c.330G>A|p.Pro110Pro|473/2251|330/1818|110/605||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|3/20|c.348G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|5/20|c.348G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|6/20|c.348G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|4/20|c.348G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|2/19|c.330G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|4/19|c.330G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|5/19|c.330G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|3/19|c.330G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|2/20|c.330G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|4/20|c.330G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|5/20|c.330G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|3/20|c.330G>A||||||,A|3_prime_UTR_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay|4/5|n.*41G>A|||||41|,A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript||n.-1G>A|||||671|,A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript||n.-1G>A|||||1850|,A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.-1G>A|||||3031|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546G>A|||||197|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556G>A|||||223|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592G>A|||||164|,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay|3/6|n.246-221G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript|3/4|n.441-221G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript|3/4|n.439-221G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|3/18|c.320-221G>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay|4/5|n.*41G>A|||||| 22 21328178 . G A . . ANN=A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|3/20|c.373+22G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|5/20|c.373+22G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|6/20|c.373+22G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|4/20|c.373+22G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|2/19|c.355+22G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|4/19|c.355+22G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|5/19|c.355+22G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|3/19|c.355+22G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|2/20|c.355+22G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|4/20|c.355+22G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|5/20|c.355+22G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|3/20|c.355+22G>A||||||,A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript||n.-1G>A|||||624|,A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript||n.-1G>A|||||1803|,A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.-1G>A|||||2984|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546G>A|||||244|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556G>A|||||270|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592G>A|||||211|,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|4/20|c.355+22G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|4/19|c.355+22G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay|3/6|n.246-174G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding|5/5|c.355+22G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding|4/9|c.355+22G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay|4/4|n.*66+22G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript|3/4|n.441-174G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|4/19|c.373+22G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript|3/4|n.439-174G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|3/18|c.320-174G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|3/18|c.355+22G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|3/19|c.355+22G>A|||||| 22 21328327 . G C . . ANN=C|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|3/20|c.374-25G>C||||||,C|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|5/20|c.374-25G>C||||||,C|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|6/20|c.374-25G>C||||||,C|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|4/20|c.374-25G>C||||||,C|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|2/19|c.356-25G>C||||||,C|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|4/19|c.356-25G>C||||||,C|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|5/19|c.356-25G>C||||||,C|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|3/19|c.356-25G>C||||||,C|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|2/20|c.356-25G>C||||||,C|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|4/20|c.356-25G>C||||||,C|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|5/20|c.356-25G>C||||||,C|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|3/20|c.356-25G>C||||||,C|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript||n.-1G>C|||||475|,C|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript||n.-1G>C|||||1654|,C|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.-1G>C|||||2835|,C|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546G>C|||||393|,C|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556G>C|||||419|,C|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592G>C|||||360|,C|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|4/20|c.356-25G>C||||||,C|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|4/19|c.356-25G>C||||||,C|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay|3/6|n.246-25G>C||||||,C|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding|5/5|c.356-25G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding|4/9|c.356-25G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay|4/4|n.*67-25G>C||||||,C|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript|3/4|n.441-25G>C||||||,C|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|4/19|c.374-25G>C||||||,C|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript|3/4|n.439-25G>C||||||,C|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|3/18|c.320-25G>C||||||,C|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|3/18|c.356-25G>C||||||,C|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|3/19|c.356-25G>C|||||| 22 21328435 . G A . . ANN=A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|5/21|c.439G>A|p.Gly147Ser|679/2387|439/1818|147/605||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|5/20|c.439G>A|p.Gly147Ser|624/2309|439/1797|147/598||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding|5/10|c.439G>A|p.Gly147Ser|724/1094|439/809|147/268||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|5/20|c.457G>A|p.Gly153Ser|646/2333|457/1815|153/604||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|4/19|c.403G>A|p.Gly135Ser|510/2157|403/1761|135/586||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|4/19|c.439G>A|p.Gly147Ser|582/2230|439/1797|147/598||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|4/20|c.439G>A|p.Gly147Ser|582/2251|439/1818|147/605||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|3/20|c.457G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|5/20|c.457G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|6/20|c.457G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|4/20|c.457G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|2/19|c.439G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|4/19|c.439G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|5/19|c.439G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|3/19|c.439G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|2/20|c.439G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|4/20|c.439G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|5/20|c.439G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|3/20|c.439G>A||||||,A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript||n.-1G>A|||||367|,A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript||n.-1G>A|||||1546|,A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.-1G>A|||||2727|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546G>A|||||501|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding||c.*606G>A|||||50|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556G>A|||||527|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay||n.*421G>A|||||50|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592G>A|||||468|,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay|4/7|n.329G>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript|4/5|n.524G>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript|4/5|n.522G>A|||||| 22 21328477 . C T . . ANN=T|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|3/20|c.483+16C>T||||||,T|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|5/20|c.483+16C>T||||||,T|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|6/20|c.483+16C>T||||||,T|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|4/20|c.483+16C>T||||||,T|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|2/19|c.465+16C>T||||||,T|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|4/19|c.465+16C>T||||||,T|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|5/19|c.465+16C>T||||||,T|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|3/19|c.465+16C>T||||||,T|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|2/20|c.465+16C>T||||||,T|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|4/20|c.465+16C>T||||||,T|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|5/20|c.465+16C>T||||||,T|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|3/20|c.465+16C>T||||||,T|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript||n.-1C>T|||||325|,T|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript||n.-1C>T|||||1504|,T|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.-1C>T|||||2685|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546C>T|||||543|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding||c.*606C>T|||||92|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556C>T|||||569|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay||n.*421C>T|||||92|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592C>T|||||510|,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|5/20|c.465+16C>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|5/19|c.465+16C>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay|4/6|n.355+16C>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding|5/9|c.465+16C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript|4/4|n.550+16C>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|5/19|c.483+16C>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript|4/4|n.548+16C>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|4/18|c.429+16C>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|4/18|c.465+16C>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|4/19|c.465+16C>T|||||| 22 21328555 . G A . . ANN=A|splice_region_variant&non_coding_exon_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript|5/5|n.563G>A||||||,A|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|6/21|c.480G>A|p.Lys160Lys|720/2387|480/1818|160/605||,A|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|6/20|c.480G>A|p.Lys160Lys|665/2309|480/1797|160/598||,A|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding|6/10|c.480G>A|p.Lys160Lys|765/1094|480/809|160/268||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|6/20|c.498G>A|p.Lys166Lys|687/2333|498/1815|166/604||,A|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|5/19|c.444G>A|p.Lys148Lys|551/2157|444/1761|148/586||,A|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|5/19|c.480G>A|p.Lys160Lys|623/2230|480/1797|160/598||,A|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|5/20|c.480G>A|p.Lys160Lys|623/2251|480/1818|160/605||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|3/20|c.498G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|5/20|c.498G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|6/20|c.498G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|4/20|c.498G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|2/19|c.480G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|4/19|c.480G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|5/19|c.480G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|3/19|c.480G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|2/20|c.480G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|4/20|c.480G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|5/20|c.480G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|3/20|c.480G>A||||||,A|3_prime_UTR_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay|5/7|n.*4G>A|||||4|,A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript||n.-1G>A|||||247|,A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript||n.-1G>A|||||1426|,A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.-1G>A|||||2607|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546G>A|||||621|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding||c.*606G>A|||||170|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556G>A|||||647|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay||n.*421G>A|||||170|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592G>A|||||588|,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay|5/7|n.*4G>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript|5/5|n.565G>A|||||| 22 21328567 . C T . . ANN=T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|6/21|c.492C>T|p.Tyr164Tyr|732/2387|492/1818|164/605||,T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|6/20|c.492C>T|p.Tyr164Tyr|677/2309|492/1797|164/598||,T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding|6/10|c.492C>T|p.Tyr164Tyr|777/1094|492/809|164/268||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|6/20|c.510C>T|p.Tyr170Tyr|699/2333|510/1815|170/604||,T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|5/19|c.456C>T|p.Tyr152Tyr|563/2157|456/1761|152/586||,T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|5/19|c.492C>T|p.Tyr164Tyr|635/2230|492/1797|164/598||,T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|5/20|c.492C>T|p.Tyr164Tyr|635/2251|492/1818|164/605||,T|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|3/20|c.510C>T||||||,T|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|5/20|c.510C>T||||||,T|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|6/20|c.510C>T||||||,T|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|4/20|c.510C>T||||||,T|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|2/19|c.492C>T||||||,T|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|4/19|c.492C>T||||||,T|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|5/19|c.492C>T||||||,T|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|3/19|c.492C>T||||||,T|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|2/20|c.492C>T||||||,T|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|4/20|c.492C>T||||||,T|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|5/20|c.492C>T||||||,T|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|3/20|c.492C>T||||||,T|3_prime_UTR_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay|5/7|n.*16C>T|||||16|,T|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript||n.-1C>T|||||235|,T|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript||n.-1C>T|||||1414|,T|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.-1C>T|||||2595|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546C>T|||||633|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding||c.*606C>T|||||182|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556C>T|||||659|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay||n.*421C>T|||||182|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592C>T|||||600|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript||n.*564C>T|||||11|,T|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay|5/7|n.*16C>T||||||,T|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript|5/5|n.577C>T|||||| 22 21328568 . G A . . ANN=A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|6/21|c.493G>A|p.Val165Ile|733/2387|493/1818|165/605||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|6/20|c.493G>A|p.Val165Ile|678/2309|493/1797|165/598||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding|6/10|c.493G>A|p.Val165Ile|778/1094|493/809|165/268||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|6/20|c.511G>A|p.Val171Ile|700/2333|511/1815|171/604||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|5/19|c.457G>A|p.Val153Ile|564/2157|457/1761|153/586||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|5/19|c.493G>A|p.Val165Ile|636/2230|493/1797|165/598||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|5/20|c.493G>A|p.Val165Ile|636/2251|493/1818|165/605||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|3/20|c.511G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|5/20|c.511G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|6/20|c.511G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|4/20|c.511G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|2/19|c.493G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|4/19|c.493G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|5/19|c.493G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|3/19|c.493G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|2/20|c.493G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|4/20|c.493G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|5/20|c.493G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|3/20|c.493G>A||||||,A|3_prime_UTR_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay|5/7|n.*17G>A|||||17|,A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript||n.-1G>A|||||234|,A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript||n.-1G>A|||||1413|,A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.-1G>A|||||2594|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546G>A|||||634|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding||c.*606G>A|||||183|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556G>A|||||660|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay||n.*421G>A|||||183|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592G>A|||||601|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript||n.*564G>A|||||12|,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay|5/7|n.*17G>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript|5/5|n.578G>A|||||| 22 21328572 . G A . . ANN=A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|6/21|c.497G>A|p.Arg166Gln|737/2387|497/1818|166/605||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|6/20|c.497G>A|p.Arg166Gln|682/2309|497/1797|166/598||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding|6/10|c.497G>A|p.Arg166Gln|782/1094|497/809|166/268||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|6/20|c.515G>A|p.Arg172Gln|704/2333|515/1815|172/604||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|5/19|c.461G>A|p.Arg154Gln|568/2157|461/1761|154/586||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|5/19|c.497G>A|p.Arg166Gln|640/2230|497/1797|166/598||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|5/20|c.497G>A|p.Arg166Gln|640/2251|497/1818|166/605||,A|3_prime_UTR_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay|5/7|n.*21G>A|||||21|,A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript||n.-1G>A|||||230|,A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript||n.-1G>A|||||1409|,A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.-1G>A|||||2590|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546G>A|||||638|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding||c.*606G>A|||||187|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556G>A|||||664|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay||n.*421G>A|||||187|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592G>A|||||605|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript||n.*564G>A|||||16|,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay|5/7|n.*21G>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript|5/5|n.582G>A|||||| 22 21328876 . C T . . ANN=T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|7/21|c.573C>T|p.Tyr191Tyr|813/2387|573/1818|191/605||,T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|7/20|c.573C>T|p.Tyr191Tyr|758/2309|573/1797|191/598||,T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding|7/10|c.573C>T|p.Tyr191Tyr|858/1094|573/809|191/268||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|7/20|c.591C>T|p.Tyr197Tyr|780/2333|591/1815|197/604||,T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|6/19|c.537C>T|p.Tyr179Tyr|644/2157|537/1761|179/586||,T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|6/19|c.573C>T|p.Tyr191Tyr|716/2230|573/1797|191/598||,T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|6/20|c.573C>T|p.Tyr191Tyr|716/2251|573/1818|191/605||,T|3_prime_UTR_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay|6/7|n.*97C>T|||||325|,T|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript||n.-1C>T|||||1105|,T|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.-1C>T|||||2286|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.-1C>T|||||4875|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546C>T|||||942|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding||c.*606C>T|||||491|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556C>T|||||968|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay||n.*421C>T|||||491|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript||n.*596C>T|||||290|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592C>T|||||909|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript||n.*564C>T|||||320|,T|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay|6/7|n.*97C>T||||||,T|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|1/14|n.75C>T|||||| 22 21328899 . T C . . ANN=C|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|7/21|c.596T>C|p.Ile199Thr|836/2387|596/1818|199/605||,C|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|7/20|c.596T>C|p.Ile199Thr|781/2309|596/1797|199/598||,C|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding|7/10|c.596T>C|p.Ile199Thr|881/1094|596/809|199/268||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|7/20|c.614T>C|p.Ile205Thr|803/2333|614/1815|205/604||,C|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|6/19|c.560T>C|p.Ile187Thr|667/2157|560/1761|187/586||,C|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|6/19|c.596T>C|p.Ile199Thr|739/2230|596/1797|199/598||,C|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|6/20|c.596T>C|p.Ile199Thr|739/2251|596/1818|199/605||,C|3_prime_UTR_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay|6/7|n.*120T>C|||||348|,C|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript||n.-1T>C|||||1082|,C|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.-1T>C|||||2263|,C|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.-1T>C|||||4852|,C|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546T>C|||||965|,C|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding||c.*606T>C|||||514|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556T>C|||||991|,C|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay||n.*421T>C|||||514|,C|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript||n.*596T>C|||||313|,C|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592T>C|||||932|,C|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript||n.*564T>C|||||343|,C|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay|6/7|n.*120T>C||||||,C|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|1/14|n.98T>C|||||| 22 21328976 . C T . . ANN=T|sequence_feature|LOW|AIFM3|ENSG00000183773|nucleotide_phosphate-binding_region:FAD|ENST00000405089|protein_coding|8/20|c.626-17C>T||||||,T|sequence_feature|LOW|AIFM3|ENSG00000183773|nucleotide_phosphate-binding_region:FAD|ENST00000405089|protein_coding|7/20|c.626-17C>T||||||,T|sequence_feature|LOW|AIFM3|ENSG00000183773|nucleotide_phosphate-binding_region:FAD|ENST00000333607|protein_coding|7/19|c.608-17C>T||||||,T|sequence_feature|LOW|AIFM3|ENSG00000183773|nucleotide_phosphate-binding_region:FAD|ENST00000333607|protein_coding|6/19|c.608-17C>T||||||,T|sequence_feature|LOW|AIFM3|ENSG00000183773|nucleotide_phosphate-binding_region:FAD|ENST00000440238|protein_coding|7/20|c.608-17C>T||||||,T|sequence_feature|LOW|AIFM3|ENSG00000183773|nucleotide_phosphate-binding_region:FAD|ENST00000440238|protein_coding|6/20|c.608-17C>T||||||,T|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript||n.-1C>T|||||1005|,T|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.-1C>T|||||2186|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.-1C>T|||||4775|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546C>T|||||1042|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding||c.*606C>T|||||591|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556C>T|||||1068|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay||n.*421C>T|||||591|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript||n.*596C>T|||||390|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592C>T|||||1009|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript||n.*564C>T|||||420|,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|7/20|c.608-17C>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|7/19|c.608-17C>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay|6/6|n.*132-17C>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding|7/9|c.608-17C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|7/19|c.626-17C>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|6/18|c.572-17C>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|6/18|c.608-17C>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|6/19|c.608-17C>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|1/13|n.110-41C>T|||||| 22 21329052 . G A . . ANN=A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|8/21|c.667G>A|p.Val223Ile|907/2387|667/1818|223/605||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|8/20|c.667G>A|p.Val223Ile|852/2309|667/1797|223/598||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding|8/10|c.667G>A|p.Val223Ile|952/1094|667/809|223/268||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|8/20|c.685G>A|p.Val229Ile|874/2333|685/1815|229/604||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|7/19|c.631G>A|p.Val211Ile|738/2157|631/1761|211/586||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|7/19|c.667G>A|p.Val223Ile|810/2230|667/1797|223/598||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|7/20|c.667G>A|p.Val223Ile|810/2251|667/1818|223/605||,A|3_prime_UTR_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay|7/7|n.*191G>A|||||501|,A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript||n.-1G>A|||||929|,A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.-1G>A|||||2110|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.-1G>A|||||4699|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546G>A|||||1118|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding||c.*606G>A|||||667|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556G>A|||||1144|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay||n.*421G>A|||||667|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript||n.*596G>A|||||466|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592G>A|||||1085|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript||n.*564G>A|||||496|,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay|7/7|n.*191G>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|2/14|n.145G>A|||||| 22 21329084 . C T . . ANN=T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|8/21|c.699C>T|p.Tyr233Tyr|939/2387|699/1818|233/605||,T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|8/20|c.699C>T|p.Tyr233Tyr|884/2309|699/1797|233/598||,T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding|8/10|c.699C>T|p.Tyr233Tyr|984/1094|699/809|233/268||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|8/20|c.717C>T|p.Tyr239Tyr|906/2333|717/1815|239/604||,T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|7/19|c.663C>T|p.Tyr221Tyr|770/2157|663/1761|221/586||,T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|7/19|c.699C>T|p.Tyr233Tyr|842/2230|699/1797|233/598||,T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|7/20|c.699C>T|p.Tyr233Tyr|842/2251|699/1818|233/605||,T|3_prime_UTR_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay|7/7|n.*223C>T|||||533|,T|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript||n.-1C>T|||||897|,T|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.-1C>T|||||2078|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.-1C>T|||||4667|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546C>T|||||1150|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding||c.*606C>T|||||699|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556C>T|||||1176|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay||n.*421C>T|||||699|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript||n.*596C>T|||||498|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592C>T|||||1117|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript||n.*564C>T|||||528|,T|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay|7/7|n.*223C>T||||||,T|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|2/14|n.177C>T|||||| 22 21329120 . G A . . ANN=A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript||n.-1G>A|||||861|,A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.-1G>A|||||2042|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.-1G>A|||||4631|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay||n.*547G>A|||||17|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546G>A|||||1186|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding||c.*606G>A|||||735|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556G>A|||||1212|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay||n.*421G>A|||||735|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript||n.*596G>A|||||534|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592G>A|||||1153|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript||n.*564G>A|||||564|,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|8/20|c.720+15G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|8/19|c.720+15G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding|8/9|c.720+15G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|8/19|c.738+15G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|7/18|c.684+15G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|7/18|c.720+15G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|7/19|c.720+15G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|2/13|n.198+15G>A|||||| 22 21329123 . A G . . ANN=G|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript||n.-1A>G|||||858|,G|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.-1A>G|||||2039|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.-1A>G|||||4628|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay||n.*547A>G|||||20|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546A>G|||||1189|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding||c.*606A>G|||||738|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556A>G|||||1215|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay||n.*421A>G|||||738|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript||n.*596A>G|||||537|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592A>G|||||1156|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript||n.*564A>G|||||567|,G|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|8/20|c.720+18A>G||||||,G|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|8/19|c.720+18A>G||||||,G|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding|8/9|c.720+18A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|8/19|c.738+18A>G||||||,G|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|7/18|c.684+18A>G||||||,G|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|7/18|c.720+18A>G||||||,G|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|7/19|c.720+18A>G||||||,G|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|2/13|n.198+18A>G|||||| 22 21330097 . G A . . ANN=A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.-1G>A|||||1065|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.-1G>A|||||3654|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay||n.*547G>A|||||994|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546G>A|||||2163|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding||c.*606G>A|||||1712|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556G>A|||||2189|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay||n.*421G>A|||||1712|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript||n.*596G>A|||||1511|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592G>A|||||2130|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript||n.*564G>A|||||1541|,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|9/20|c.807+30G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|9/19|c.807+30G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding|9/9|c.807+30G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|9/19|c.825+30G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|8/18|c.771+30G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|8/18|c.807+30G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|8/19|c.807+30G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|3/13|n.285+30G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript|1/10|n.87+30G>A|||||| 22 21330116 . C G . . ANN=G|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.-1C>G|||||1046|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.-1C>G|||||3635|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay||n.*547C>G|||||1013|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546C>G|||||2182|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding||c.*606C>G|||||1731|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556C>G|||||2208|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay||n.*421C>G|||||1731|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript||n.*596C>G|||||1530|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592C>G|||||2149|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript||n.*564C>G|||||1560|,G|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|9/20|c.807+49C>G||||||,G|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|9/19|c.807+49C>G||||||,G|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding|9/9|c.807+49C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|9/19|c.825+49C>G||||||,G|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|8/18|c.771+49C>G||||||,G|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|8/18|c.807+49C>G||||||,G|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|8/19|c.807+49C>G||||||,G|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|3/13|n.285+49C>G||||||,G|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript|1/10|n.87+49C>G|||||| 22 21330507 . G A . . ANN=A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|10/21|c.811G>A|p.Val271Ile|1051/2387|811/1818|271/605||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|10/20|c.811G>A|p.Val271Ile|996/2309|811/1797|271/598||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|10/20|c.829G>A|p.Val277Ile|1018/2333|829/1815|277/604||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|9/19|c.775G>A|p.Val259Ile|882/2157|775/1761|259/586||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|9/19|c.811G>A|p.Val271Ile|954/2230|811/1797|271/598||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|9/20|c.811G>A|p.Val271Ile|954/2251|811/1818|271/605||,A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.-1G>A|||||655|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.-1G>A|||||3244|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay||n.*547G>A|||||1404|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546G>A|||||2573|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding||c.*606G>A|||||2122|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556G>A|||||2599|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding||c.*1094G>A|||||2|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay||n.*421G>A|||||2122|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript||n.*596G>A|||||1921|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592G>A|||||2540|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript||n.*564G>A|||||1951|,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|4/14|n.289G>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript|2/11|n.91G>A|||||| 22 21330608 . C T . . ANN=T|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.-1C>T|||||554|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.-1C>T|||||3143|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay||n.*547C>T|||||1505|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546C>T|||||2674|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding||c.*606C>T|||||2223|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556C>T|||||2700|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding||c.*1094C>T|||||103|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay||n.*421C>T|||||2223|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript||n.*596C>T|||||2022|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592C>T|||||2641|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript||n.*564C>T|||||2052|,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|10/20|c.899+13C>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|10/19|c.899+13C>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|10/19|c.917+13C>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|9/18|c.863+13C>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|9/18|c.899+13C>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|9/19|c.899+13C>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|4/13|n.377+13C>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript|2/10|n.179+13C>T|||||| 22 21330622 . G A . . ANN=A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.-1G>A|||||540|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.-1G>A|||||3129|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay||n.*547G>A|||||1519|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546G>A|||||2688|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding||c.*606G>A|||||2237|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556G>A|||||2714|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding||c.*1094G>A|||||117|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay||n.*421G>A|||||2237|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript||n.*596G>A|||||2036|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592G>A|||||2655|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript||n.*564G>A|||||2066|,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|10/20|c.899+27G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|10/19|c.899+27G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|10/19|c.917+27G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|9/18|c.863+27G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|9/18|c.899+27G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|9/19|c.899+27G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|4/13|n.377+27G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript|2/10|n.179+27G>A|||||| 22 21330750 . G A . . ANN=A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|11/21|c.953G>A|p.Arg318Gln|1193/2387|953/1818|318/605||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|11/20|c.953G>A|p.Arg318Gln|1138/2309|953/1797|318/598||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|11/20|c.971G>A|p.Arg324Gln|1160/2333|971/1815|324/604||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|10/19|c.917G>A|p.Arg306Gln|1024/2157|917/1761|306/586||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|10/19|c.953G>A|p.Arg318Gln|1096/2230|953/1797|318/598||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|10/20|c.953G>A|p.Arg318Gln|1096/2251|953/1818|318/605||,A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.-1G>A|||||412|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.-1G>A|||||3001|,A|downstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.*395C>T|||||4900|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay||n.*547G>A|||||1647|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546G>A|||||2816|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding||c.*606G>A|||||2365|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556G>A|||||2842|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding||c.*1094G>A|||||245|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay||n.*421G>A|||||2365|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript||n.*596G>A|||||2164|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592G>A|||||2783|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript||n.*564G>A|||||2194|,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|5/14|n.431G>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript|3/11|n.233G>A|||||| 22 21330787 . C T . . ANN=T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|11/21|c.990C>T|p.Ala330Ala|1230/2387|990/1818|330/605||,T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|11/20|c.990C>T|p.Ala330Ala|1175/2309|990/1797|330/598||,T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|11/20|c.1008C>T|p.Ala336Ala|1197/2333|1008/1815|336/604||,T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|10/19|c.954C>T|p.Ala318Ala|1061/2157|954/1761|318/586||,T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|10/19|c.990C>T|p.Ala330Ala|1133/2230|990/1797|330/598||,T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|10/20|c.990C>T|p.Ala330Ala|1133/2251|990/1818|330/605||,T|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.-1C>T|||||375|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.-1C>T|||||2964|,T|downstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.*395G>A|||||4863|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay||n.*547C>T|||||1684|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546C>T|||||2853|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding||c.*606C>T|||||2402|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556C>T|||||2879|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding||c.*1094C>T|||||282|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay||n.*421C>T|||||2402|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript||n.*596C>T|||||2201|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592C>T|||||2820|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript||n.*564C>T|||||2231|,T|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|5/14|n.468C>T||||||,T|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript|3/11|n.270C>T|||||| 22 21330789 . G A . . ANN=A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|11/21|c.992G>A|p.Arg331Gln|1232/2387|992/1818|331/605||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|11/20|c.992G>A|p.Arg331Gln|1177/2309|992/1797|331/598||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|11/20|c.1010G>A|p.Arg337Gln|1199/2333|1010/1815|337/604||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|10/19|c.956G>A|p.Arg319Gln|1063/2157|956/1761|319/586||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|10/19|c.992G>A|p.Arg331Gln|1135/2230|992/1797|331/598||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|10/20|c.992G>A|p.Arg331Gln|1135/2251|992/1818|331/605||,A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.-1G>A|||||373|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.-1G>A|||||2962|,A|downstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.*395C>T|||||4861|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay||n.*547G>A|||||1686|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546G>A|||||2855|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding||c.*606G>A|||||2404|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556G>A|||||2881|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding||c.*1094G>A|||||284|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay||n.*421G>A|||||2404|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript||n.*596G>A|||||2203|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592G>A|||||2822|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript||n.*564G>A|||||2233|,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|5/14|n.470G>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript|3/11|n.272G>A|||||| 22 21330800 . G A . . ANN=A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|11/21|c.1003G>A|p.Val335Met|1243/2387|1003/1818|335/605||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|11/20|c.1003G>A|p.Val335Met|1188/2309|1003/1797|335/598||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|11/20|c.1021G>A|p.Val341Met|1210/2333|1021/1815|341/604||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|10/19|c.967G>A|p.Val323Met|1074/2157|967/1761|323/586||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|10/19|c.1003G>A|p.Val335Met|1146/2230|1003/1797|335/598||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|10/20|c.1003G>A|p.Val335Met|1146/2251|1003/1818|335/605||,A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.-1G>A|||||362|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.-1G>A|||||2951|,A|downstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.*395C>T|||||4850|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay||n.*547G>A|||||1697|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546G>A|||||2866|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding||c.*606G>A|||||2415|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556G>A|||||2892|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding||c.*1094G>A|||||295|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay||n.*421G>A|||||2415|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript||n.*596G>A|||||2214|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592G>A|||||2833|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript||n.*564G>A|||||2244|,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|5/14|n.481G>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript|3/11|n.283G>A|||||| 22 21330855 . T A . . ANN=A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.-1T>A|||||307|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.-1T>A|||||2896|,A|downstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.*395A>T|||||4795|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay||n.*547T>A|||||1752|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546T>A|||||2921|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding||c.*606T>A|||||2470|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556T>A|||||2947|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding||c.*1094T>A|||||350|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay||n.*421T>A|||||2470|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript||n.*596T>A|||||2269|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592T>A|||||2888|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript||n.*564T>A|||||2299|,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|11/20|c.1030+28T>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|11/19|c.1030+28T>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|11/19|c.1048+28T>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|10/18|c.994+28T>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|10/18|c.1030+28T>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|10/19|c.1030+28T>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|5/13|n.508+28T>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript|3/10|n.310+28T>A|||||| 22 21330939 . G A . . ANN=A|splice_acceptor_variant&intron_variant|HIGH|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|11/20|c.1031-1G>A||||||,A|splice_acceptor_variant&intron_variant|HIGH|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|11/19|c.1031-1G>A||||||,A|splice_acceptor_variant&intron_variant|HIGH|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|11/19|c.1049-1G>A||||||,A|splice_acceptor_variant&intron_variant|HIGH|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|10/18|c.995-1G>A||||||,A|splice_acceptor_variant&intron_variant|HIGH|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|10/18|c.1031-1G>A||||||,A|splice_acceptor_variant&intron_variant|HIGH|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|10/19|c.1031-1G>A||||||,A|splice_acceptor_variant&intron_variant|HIGH|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|5/13|n.509-1G>A||||||,A|splice_acceptor_variant&intron_variant|HIGH|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript|3/10|n.311-1G>A||||||,A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.-1G>A|||||223|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.-1G>A|||||2812|,A|downstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.*395C>T|||||4711|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay||n.*547G>A|||||1836|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546G>A|||||3005|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding||c.*606G>A|||||2554|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556G>A|||||3031|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding||c.*1094G>A|||||434|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay||n.*421G>A|||||2554|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript||n.*596G>A|||||2353|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592G>A|||||2972|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript||n.*564G>A|||||2383|;LOF=(AIFM3|ENSG00000183773|20|0.30) 22 21331007 . G A . . ANN=A|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|12/21|c.1098G>A|p.Thr366Thr|1338/2387|1098/1818|366/605||,A|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|12/20|c.1098G>A|p.Thr366Thr|1283/2309|1098/1797|366/598||,A|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|12/20|c.1116G>A|p.Thr372Thr|1305/2333|1116/1815|372/604||,A|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|11/19|c.1062G>A|p.Thr354Thr|1169/2157|1062/1761|354/586||,A|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|11/19|c.1098G>A|p.Thr366Thr|1241/2230|1098/1797|366/598||,A|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|11/20|c.1098G>A|p.Thr366Thr|1241/2251|1098/1818|366/605||,A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.-1G>A|||||155|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.-1G>A|||||2744|,A|downstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.*395C>T|||||4643|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay||n.*547G>A|||||1904|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546G>A|||||3073|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding||c.*606G>A|||||2622|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556G>A|||||3099|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding||c.*1094G>A|||||502|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay||n.*421G>A|||||2622|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript||n.*596G>A|||||2421|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592G>A|||||3040|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript||n.*564G>A|||||2451|,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|6/14|n.576G>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript|4/11|n.378G>A|||||| 22 21331032 . C T . . ANN=T|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|12/21|c.1123C>T|p.Arg375Cys|1363/2387|1123/1818|375/605||,T|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|12/20|c.1123C>T|p.Arg375Cys|1308/2309|1123/1797|375/598||,T|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|12/20|c.1141C>T|p.Arg381Cys|1330/2333|1141/1815|381/604||,T|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|11/19|c.1087C>T|p.Arg363Cys|1194/2157|1087/1761|363/586||,T|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|11/19|c.1123C>T|p.Arg375Cys|1266/2230|1123/1797|375/598||,T|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|11/20|c.1123C>T|p.Arg375Cys|1266/2251|1123/1818|375/605||,T|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.-1C>T|||||130|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.-1C>T|||||2719|,T|downstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.*395G>A|||||4618|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay||n.*547C>T|||||1929|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546C>T|||||3098|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding||c.*606C>T|||||2647|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556C>T|||||3124|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding||c.*1094C>T|||||527|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay||n.*421C>T|||||2647|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript||n.*596C>T|||||2446|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592C>T|||||3065|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript||n.*564C>T|||||2476|,T|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|6/14|n.601C>T||||||,T|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript|4/11|n.403C>T|||||| 22 21331043 . A T . . ANN=T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|12/21|c.1134A>T|p.Arg378Arg|1374/2387|1134/1818|378/605||,T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|12/20|c.1134A>T|p.Arg378Arg|1319/2309|1134/1797|378/598||,T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|12/20|c.1152A>T|p.Arg384Arg|1341/2333|1152/1815|384/604||,T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|11/19|c.1098A>T|p.Arg366Arg|1205/2157|1098/1761|366/586||,T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|11/19|c.1134A>T|p.Arg378Arg|1277/2230|1134/1797|378/598||,T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|11/20|c.1134A>T|p.Arg378Arg|1277/2251|1134/1818|378/605||,T|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.-1A>T|||||119|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.-1A>T|||||2708|,T|downstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.*395T>A|||||4607|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay||n.*547A>T|||||1940|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546A>T|||||3109|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding||c.*606A>T|||||2658|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556A>T|||||3135|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding||c.*1094A>T|||||538|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay||n.*421A>T|||||2658|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript||n.*596A>T|||||2457|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592A>T|||||3076|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript||n.*564A>T|||||2487|,T|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|6/14|n.612A>T||||||,T|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript|4/11|n.414A>T|||||| 22 21331056 . G A . . ANN=A|splice_donor_variant&intron_variant|HIGH|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|12/20|c.1146+1G>A||||||,A|splice_donor_variant&intron_variant|HIGH|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|12/19|c.1146+1G>A||||||,A|splice_donor_variant&intron_variant|HIGH|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|12/19|c.1164+1G>A||||||,A|splice_donor_variant&intron_variant|HIGH|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|11/18|c.1110+1G>A||||||,A|splice_donor_variant&intron_variant|HIGH|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|11/18|c.1146+1G>A||||||,A|splice_donor_variant&intron_variant|HIGH|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|11/19|c.1146+1G>A||||||,A|splice_donor_variant&intron_variant|HIGH|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|6/13|n.624+1G>A||||||,A|splice_donor_variant&intron_variant|HIGH|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript|4/10|n.426+1G>A||||||,A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.-1G>A|||||106|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.-1G>A|||||2695|,A|downstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.*395C>T|||||4594|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay||n.*547G>A|||||1953|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546G>A|||||3122|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding||c.*606G>A|||||2671|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556G>A|||||3148|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding||c.*1094G>A|||||551|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay||n.*421G>A|||||2671|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript||n.*596G>A|||||2470|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592G>A|||||3089|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript||n.*564G>A|||||2500|;LOF=(AIFM3|ENSG00000183773|20|0.30) 22 21331129 . C T . . ANN=T|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.-1C>T|||||33|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.-1C>T|||||2622|,T|downstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.*395G>A|||||4521|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay||n.*547C>T|||||2026|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546C>T|||||3195|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding||c.*606C>T|||||2744|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556C>T|||||3221|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding||c.*1094C>T|||||624|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay||n.*421C>T|||||2744|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript||n.*596C>T|||||2543|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592C>T|||||3162|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript||n.*564C>T|||||2573|,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|12/20|c.1147-27C>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|12/19|c.1147-27C>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|12/19|c.1165-27C>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|11/18|c.1111-27C>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|11/18|c.1147-27C>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|11/19|c.1147-27C>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|6/13|n.625-27C>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript|4/10|n.427-27C>T|||||| 22 21331171 . C T . . ANN=T|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|13/21|c.1162C>T|p.Arg388Trp|1402/2387|1162/1818|388/605||,T|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|13/20|c.1162C>T|p.Arg388Trp|1347/2309|1162/1797|388/598||,T|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|13/20|c.1180C>T|p.Arg394Trp|1369/2333|1180/1815|394/604||,T|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|12/19|c.1126C>T|p.Arg376Trp|1233/2157|1126/1761|376/586||,T|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|12/19|c.1162C>T|p.Arg388Trp|1305/2230|1162/1797|388/598||,T|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|12/20|c.1162C>T|p.Arg388Trp|1305/2251|1162/1818|388/605||,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.-1C>T|||||2580|,T|downstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.*395G>A|||||4479|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay||n.*547C>T|||||2068|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546C>T|||||3237|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding||c.*606C>T|||||2786|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556C>T|||||3263|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding||c.*1094C>T|||||666|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay||n.*421C>T|||||2786|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript||n.*596C>T|||||2585|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592C>T|||||3204|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript||n.*564C>T|||||2615|,T|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|7/14|n.640C>T||||||,T|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript|5/11|n.442C>T||||||,T|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron|1/4|n.10C>T|||||| 22 21331194 . G A . . ANN=A|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|13/21|c.1185G>A|p.Thr395Thr|1425/2387|1185/1818|395/605||,A|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|13/20|c.1185G>A|p.Thr395Thr|1370/2309|1185/1797|395/598||,A|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|13/20|c.1203G>A|p.Thr401Thr|1392/2333|1203/1815|401/604||,A|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|12/19|c.1149G>A|p.Thr383Thr|1256/2157|1149/1761|383/586||,A|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|12/19|c.1185G>A|p.Thr395Thr|1328/2230|1185/1797|395/598||,A|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|12/20|c.1185G>A|p.Thr395Thr|1328/2251|1185/1818|395/605||,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.-1G>A|||||2557|,A|downstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.*395C>T|||||4456|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay||n.*547G>A|||||2091|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546G>A|||||3260|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding||c.*606G>A|||||2809|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556G>A|||||3286|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding||c.*1094G>A|||||689|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay||n.*421G>A|||||2809|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript||n.*596G>A|||||2608|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592G>A|||||3227|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript||n.*564G>A|||||2638|,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|7/14|n.663G>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript|5/11|n.465G>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron|1/4|n.33G>A|||||| 22 21331233 . CCCTTCT C . . ANN=|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.-1_-1delCCTTCT|||||2517|,|downstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.*395_*395delAGAAGG|||||4416|,|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay||n.*547_*547delCCTTCT|||||2131|,|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546_*546delCCTTCT|||||3300|,|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding||c.*606_*606delCCTTCT|||||2849|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556_*556delCCTTCT|||||3326|,|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding||c.*1094_*1094delCCTTCT|||||729|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay||n.*421_*421delCCTTCT|||||2849|,|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript||n.*596_*596delCCTTCT|||||2648|,|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592_*592delCCTTCT|||||3267|,|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript||n.*564_*564delCCTTCT|||||2678|,|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|13/20|c.1218+9_1218+14delTTCTCC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|13/19|c.1218+9_1218+14delTTCTCC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|13/19|c.1236+9_1236+14delTTCTCC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|12/18|c.1182+9_1182+14delTTCTCC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|12/18|c.1218+9_1218+14delTTCTCC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|12/19|c.1218+9_1218+14delTTCTCC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|7/13|n.696+9_696+14delTTCTCC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript|5/10|n.498+9_498+14delTTCTCC||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron|1/4|n.75_80delTTCTCC||||||INFO_REALIGN_3_PRIME 22 21331427 . G A . . ANN=A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.-360G>A|||||4875|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.-1G>A|||||2324|,A|downstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.*395C>T|||||4223|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay||n.*547G>A|||||2324|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546G>A|||||3493|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding||c.*606G>A|||||3042|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556G>A|||||3519|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding||c.*1094G>A|||||922|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay||n.*421G>A|||||3042|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript||n.*596G>A|||||2841|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592G>A|||||3460|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript||n.*564G>A|||||2871|,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|14/20|c.1282+43G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|14/19|c.1282+43G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|14/19|c.1300+43G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|13/18|c.1246+43G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|13/18|c.1282+43G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|13/19|c.1282+43G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|8/13|n.760+43G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript|6/10|n.562+43G>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron|1/4|n.266G>A|||||| 22 21331948 . G A . . ANN=A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.-360G>A|||||4354|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.-1G>A|||||1803|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.-104G>A|||||4610|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron||n.-1G>A|||||4638|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.-50G>A|||||4664|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.-42G>A|||||4672|,A|downstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.*395C>T|||||3702|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay||n.*547G>A|||||2845|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546G>A|||||4014|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding||c.*606G>A|||||3563|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556G>A|||||4040|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding||c.*1094G>A|||||1443|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay||n.*421G>A|||||3563|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript||n.*596G>A|||||3362|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592G>A|||||3981|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript||n.*564G>A|||||3392|,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|14/20|c.1283-41G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|14/19|c.1283-41G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|14/19|c.1301-41G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|13/18|c.1247-41G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|13/18|c.1283-41G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|13/19|c.1283-41G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|8/13|n.761-41G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript|6/10|n.563-229G>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron|1/4|n.787G>A|||||| 22 21331950 . C G . . ANN=G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.-360C>G|||||4352|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.-1C>G|||||1801|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.-104C>G|||||4608|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron||n.-1C>G|||||4636|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.-50C>G|||||4662|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.-42C>G|||||4670|,G|downstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.*395G>C|||||3700|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay||n.*547C>G|||||2847|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546C>G|||||4016|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding||c.*606C>G|||||3565|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556C>G|||||4042|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding||c.*1094C>G|||||1445|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay||n.*421C>G|||||3565|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript||n.*596C>G|||||3364|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592C>G|||||3983|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript||n.*564C>G|||||3394|,G|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|14/20|c.1283-39C>G||||||,G|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|14/19|c.1283-39C>G||||||,G|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|14/19|c.1301-39C>G||||||,G|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|13/18|c.1247-39C>G||||||,G|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|13/18|c.1283-39C>G||||||,G|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|13/19|c.1283-39C>G||||||,G|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|8/13|n.761-39C>G||||||,G|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript|6/10|n.563-227C>G||||||,G|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron|1/4|n.789C>G|||||| 22 21331959 . G A . . ANN=A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.-360G>A|||||4343|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.-1G>A|||||1792|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.-104G>A|||||4599|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron||n.-1G>A|||||4627|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.-50G>A|||||4653|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.-42G>A|||||4661|,A|downstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.*395C>T|||||3691|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay||n.*547G>A|||||2856|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546G>A|||||4025|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding||c.*606G>A|||||3574|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556G>A|||||4051|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding||c.*1094G>A|||||1454|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay||n.*421G>A|||||3574|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript||n.*596G>A|||||3373|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592G>A|||||3992|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript||n.*564G>A|||||3403|,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|14/20|c.1283-30G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|14/19|c.1283-30G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|14/19|c.1301-30G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|13/18|c.1247-30G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|13/18|c.1283-30G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|13/19|c.1283-30G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|8/13|n.761-30G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript|6/10|n.563-218G>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron|1/4|n.798G>A|||||| 22 21332030 . G A . . ANN=A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|15/21|c.1324G>A|p.Gly442Ser|1564/2387|1324/1818|442/605||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|15/20|c.1324G>A|p.Gly442Ser|1509/2309|1324/1797|442/598||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|15/20|c.1342G>A|p.Gly448Ser|1531/2333|1342/1815|448/604||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|14/19|c.1288G>A|p.Gly430Ser|1395/2157|1288/1761|430/586||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|14/19|c.1324G>A|p.Gly442Ser|1467/2230|1324/1797|442/598||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|14/20|c.1324G>A|p.Gly442Ser|1467/2251|1324/1818|442/605||,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.-360G>A|||||4272|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.-1G>A|||||1721|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.-104G>A|||||4528|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron||n.-1G>A|||||4556|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.-50G>A|||||4582|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.-42G>A|||||4590|,A|downstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.*395C>T|||||3620|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay||n.*547G>A|||||2927|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546G>A|||||4096|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding||c.*606G>A|||||3645|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556G>A|||||4122|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding||c.*1094G>A|||||1525|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay||n.*421G>A|||||3645|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript||n.*596G>A|||||3444|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592G>A|||||4063|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript||n.*564G>A|||||3474|,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript|6/10|n.563-147G>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|9/14|n.802G>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron|1/4|n.869G>A|||||| 22 21332152 . G A . . ANN=A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.-360G>A|||||4150|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.-1G>A|||||1599|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.-104G>A|||||4406|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron||n.-1G>A|||||4434|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.-50G>A|||||4460|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.-42G>A|||||4468|,A|downstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.*395C>T|||||3498|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay||n.*547G>A|||||3049|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546G>A|||||4218|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding||c.*606G>A|||||3767|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556G>A|||||4244|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding||c.*1094G>A|||||1647|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay||n.*421G>A|||||3767|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript||n.*596G>A|||||3566|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592G>A|||||4185|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript||n.*564G>A|||||3596|,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|15/20|c.1360-25G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|15/19|c.1360-25G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|15/19|c.1378-25G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|14/18|c.1324-25G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|14/18|c.1360-25G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|14/19|c.1360-25G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|9/13|n.838-25G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript|6/10|n.563-25G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron|1/3|n.905-25G>A|||||| 22 21332187 . C G . . ANN=G|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|16/21|c.1370C>G|p.Thr457Ser|1610/2387|1370/1818|457/605||,G|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|16/20|c.1370C>G|p.Thr457Ser|1555/2309|1370/1797|457/598||,G|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|16/20|c.1388C>G|p.Thr463Ser|1577/2333|1388/1815|463/604||,G|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|15/19|c.1334C>G|p.Thr445Ser|1441/2157|1334/1761|445/586||,G|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|15/19|c.1370C>G|p.Thr457Ser|1513/2230|1370/1797|457/598||,G|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|15/20|c.1370C>G|p.Thr457Ser|1513/2251|1370/1818|457/605||,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.-360C>G|||||4115|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.-1C>G|||||1564|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.-104C>G|||||4371|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron||n.-1C>G|||||4399|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.-50C>G|||||4425|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.-42C>G|||||4433|,G|downstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.*395G>C|||||3463|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay||n.*547C>G|||||3084|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546C>G|||||4253|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding||c.*606C>G|||||3802|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556C>G|||||4279|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding||c.*1094C>G|||||1682|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay||n.*421C>G|||||3802|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript||n.*596C>G|||||3601|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592C>G|||||4220|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript||n.*564C>G|||||3631|,G|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|10/14|n.848C>G||||||,G|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript|7/11|n.573C>G||||||,G|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron|2/4|n.915C>G|||||| 22 21332263 . C T . . ANN=T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|16/21|c.1446C>T|p.Asn482Asn|1686/2387|1446/1818|482/605||,T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|16/20|c.1446C>T|p.Asn482Asn|1631/2309|1446/1797|482/598||,T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|16/20|c.1464C>T|p.Asn488Asn|1653/2333|1464/1815|488/604||,T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|15/19|c.1410C>T|p.Asn470Asn|1517/2157|1410/1761|470/586||,T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|15/19|c.1446C>T|p.Asn482Asn|1589/2230|1446/1797|482/598||,T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|15/20|c.1446C>T|p.Asn482Asn|1589/2251|1446/1818|482/605||,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.-360C>T|||||4039|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.-1C>T|||||1488|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.-104C>T|||||4295|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron||n.-1C>T|||||4323|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.-50C>T|||||4349|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.-42C>T|||||4357|,T|downstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.*395G>A|||||3387|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay||n.*547C>T|||||3160|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546C>T|||||4329|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding||c.*606C>T|||||3878|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556C>T|||||4355|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding||c.*1094C>T|||||1758|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay||n.*421C>T|||||3878|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript||n.*596C>T|||||3677|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592C>T|||||4296|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript||n.*564C>T|||||3707|,T|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|10/14|n.924C>T||||||,T|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript|7/11|n.649C>T||||||,T|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron|2/4|n.991C>T|||||| 22 21333542 . C T . . ANN=T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.-360C>T|||||2760|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.-1C>T|||||209|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.-104C>T|||||3016|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron||n.-1C>T|||||3044|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.-50C>T|||||3070|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.-42C>T|||||3078|,T|downstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.*395G>A|||||2108|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay||n.*547C>T|||||4439|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding||c.*1094C>T|||||3037|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript||n.*596C>T|||||4956|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript||n.*564C>T|||||4986|,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|16/20|c.1478-18C>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|16/19|c.1478-18C>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|16/19|c.1496-18C>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|15/18|c.1442-18C>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|15/18|c.1478-18C>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|15/19|c.1478-18C>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|10/13|n.956-18C>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript|7/10|n.681-18C>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron|2/3|n.1023-18C>T|||||| 22 21333552 . T A . . ANN=A|splice_region_variant&intron_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|16/20|c.1478-8T>A||||||,A|splice_region_variant&intron_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|16/19|c.1478-8T>A||||||,A|splice_region_variant&intron_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|16/19|c.1496-8T>A||||||,A|splice_region_variant&intron_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|15/18|c.1442-8T>A||||||,A|splice_region_variant&intron_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|15/18|c.1478-8T>A||||||,A|splice_region_variant&intron_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|15/19|c.1478-8T>A||||||,A|splice_region_variant&intron_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|10/13|n.956-8T>A||||||,A|splice_region_variant&intron_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript|7/10|n.681-8T>A||||||,A|splice_region_variant&intron_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron|2/3|n.1023-8T>A||||||,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.-360T>A|||||2750|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.-1T>A|||||199|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.-104T>A|||||3006|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron||n.-1T>A|||||3034|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.-50T>A|||||3060|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.-42T>A|||||3068|,A|downstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.*395A>T|||||2098|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay||n.*547T>A|||||4449|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding||c.*1094T>A|||||3047|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript||n.*596T>A|||||4966|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript||n.*564T>A|||||4996| 22 21333605 . G C . . ANN=C|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|17/21|c.1523G>C|p.Ser508Thr|1763/2387|1523/1818|508/605||,C|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|17/20|c.1523G>C|p.Ser508Thr|1708/2309|1523/1797|508/598||,C|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|17/20|c.1541G>C|p.Ser514Thr|1730/2333|1541/1815|514/604||,C|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|16/19|c.1487G>C|p.Ser496Thr|1594/2157|1487/1761|496/586||,C|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|16/19|c.1523G>C|p.Ser508Thr|1666/2230|1523/1797|508/598||,C|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|16/20|c.1523G>C|p.Ser508Thr|1666/2251|1523/1818|508/605||,C|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.-360G>C|||||2697|,C|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.-1G>C|||||146|,C|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.-104G>C|||||2953|,C|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron||n.-1G>C|||||2981|,C|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.-50G>C|||||3007|,C|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.-42G>C|||||3015|,C|downstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.*395C>G|||||2045|,C|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay||n.*547G>C|||||4502|,C|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding||c.*1094G>C|||||3100|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|11/14|n.1001G>C||||||,C|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript|8/11|n.726G>C||||||,C|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron|3/4|n.1068G>C|||||| 22 21333676 . GA G . . ANN=|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.-360delA|||||2625|,|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.-1delA|||||74|,|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.-104delA|||||2881|,|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron||n.-1delA|||||2909|,|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.-50delA|||||2935|,|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.-42delA|||||2943|,|downstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.*395delT|||||1973|,|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay||n.*547delA|||||4574|,|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding||c.*1094delA|||||3172|WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|17/20|c.1576+19delA||||||,|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|17/19|c.1576+19delA||||||,|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|17/19|c.1594+19delA||||||,|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|16/18|c.1540+19delA||||||,|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|16/18|c.1576+19delA||||||,|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|16/19|c.1576+19delA||||||,|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|11/13|n.1054+19delA||||||,|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript|8/10|n.779+19delA||||||,|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron|3/3|n.1121+19delA|||||| 22 21333903 . G A . . ANN=A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.-360G>A|||||2399|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.-104G>A|||||2655|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron||n.-1G>A|||||2683|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.-50G>A|||||2709|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.-42G>A|||||2717|,A|downstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.*395C>T|||||1747|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay||n.*547G>A|||||4800|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding||c.*1094G>A|||||3398|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|17/20|c.1577-13G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|17/19|c.1577-13G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|17/19|c.1595-13G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|16/18|c.1541-13G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|16/18|c.1577-13G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|16/19|c.1577-13G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|11/13|n.1055-13G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript|8/10|n.780-13G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron|3/3|n.1122-13G>A||||||,A|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|1/22|n.153G>A|||||| 22 21333920 . C T . . ANN=T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|18/21|c.1581C>T|p.Tyr527Tyr|1821/2387|1581/1818|527/605||,T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|18/20|c.1581C>T|p.Tyr527Tyr|1766/2309|1581/1797|527/598||,T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|18/20|c.1599C>T|p.Tyr533Tyr|1788/2333|1599/1815|533/604||,T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|17/19|c.1545C>T|p.Tyr515Tyr|1652/2157|1545/1761|515/586||,T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|17/19|c.1581C>T|p.Tyr527Tyr|1724/2230|1581/1797|527/598||,T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|17/20|c.1581C>T|p.Tyr527Tyr|1724/2251|1581/1818|527/605||,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.-360C>T|||||2382|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.-104C>T|||||2638|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron||n.-1C>T|||||2666|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.-50C>T|||||2692|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.-42C>T|||||2700|,T|downstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.*395G>A|||||1730|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay||n.*547C>T|||||4817|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding||c.*1094C>T|||||3415|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|12/14|n.1059C>T||||||,T|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript|9/11|n.784C>T||||||,T|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron|4/4|n.1126C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|1/22|n.170C>T|||||| 22 21334006 . G A . . ANN=A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.-360G>A|||||2296|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.-104G>A|||||2552|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron||n.-1G>A|||||2580|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.-50G>A|||||2606|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.-42G>A|||||2614|,A|downstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.*395C>T|||||1644|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay||n.*547G>A|||||4903|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding||c.*1094G>A|||||3501|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|18/20|c.1652+15G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|18/19|c.1652+15G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|18/19|c.1670+15G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|17/18|c.1616+15G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|17/18|c.1652+15G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|17/19|c.1652+15G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|12/13|n.1130+15G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript|9/10|n.855+15G>A||||||,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|1/21|n.241+15G>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron|4/4|n.1212G>A|||||| 22 21334007 . T G . . ANN=G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.-360T>G|||||2295|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.-104T>G|||||2551|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron||n.-1T>G|||||2579|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.-50T>G|||||2605|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.-42T>G|||||2613|,G|downstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.*395A>C|||||1643|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay||n.*547T>G|||||4904|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding||c.*1094T>G|||||3502|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|18/20|c.1652+16T>G||||||,G|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|18/19|c.1652+16T>G||||||,G|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|18/19|c.1670+16T>G||||||,G|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|17/18|c.1616+16T>G||||||,G|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|17/18|c.1652+16T>G||||||,G|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|17/19|c.1652+16T>G||||||,G|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|12/13|n.1130+16T>G||||||,G|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript|9/10|n.855+16T>G||||||,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|1/21|n.241+16T>G||||||,G|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron|4/4|n.1213T>G|||||| 22 21334389 . G A . . ANN=A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|19/21|c.1733G>A|p.Arg578His|1973/2387|1733/1818|578/605||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|19/20|c.1733G>A|p.Arg578His|1918/2309|1733/1797|578/598||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|19/20|c.1751G>A|p.Arg584His|1940/2333|1751/1815|584/604||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|18/19|c.1697G>A|p.Arg566His|1804/2157|1697/1761|566/586||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|18/19|c.1733G>A|p.Arg578His|1876/2230|1733/1797|578/598||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|18/20|c.1733G>A|p.Arg578His|1876/2251|1733/1818|578/605||,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.-360G>A|||||1913|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.-104G>A|||||2169|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron||n.-1G>A|||||2197|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.-50G>A|||||2223|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.-42G>A|||||2231|,A|downstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.*395C>T|||||1261|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding||c.*1094G>A|||||3884|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|13/14|n.1211G>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript|10/11|n.936G>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron|4/4|n.1595G>A||||||,A|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|2/22|n.322G>A|||||| 22 21334461 . T G . . ANN=G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.-360T>G|||||1841|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.-104T>G|||||2097|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron||n.-1T>G|||||2125|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.-50T>G|||||2151|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.-42T>G|||||2159|,G|downstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.*395A>C|||||1189|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding||c.*1094T>G|||||3956|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|19/20|c.1757+48T>G||||||,G|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|19/19|c.1757+48T>G||||||,G|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|19/19|c.1775+48T>G||||||,G|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|18/18|c.1721+48T>G||||||,G|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|18/18|c.1757+48T>G||||||,G|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|18/19|c.1757+48T>G||||||,G|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|13/13|n.1235+48T>G||||||,G|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript|10/10|n.960+48T>G||||||,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|2/21|n.346+48T>G||||||,G|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron|4/4|n.1667T>G|||||| 22 21335010 . C T . . ANN=T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.-360C>T|||||1292|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.-104C>T|||||1548|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron||n.-1C>T|||||1576|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.-50C>T|||||1602|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.-42C>T|||||1610|,T|downstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.*395G>A|||||640|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding||c.*1094C>T|||||4505|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|19/20|c.1758-26C>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|19/19|c.1758-271C>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|19/19|c.1776-271C>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|18/18|c.1722-271C>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|18/18|c.1758-271C>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|18/19|c.1758-26C>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|13/13|n.1236-271C>T||||||,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript|10/10|n.961-271C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|2/21|n.346+597C>T||||||,T|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron|4/4|n.2216C>T|||||| 22 21335074 . G A . . ANN=A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.-360G>A|||||1228|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.-104G>A|||||1484|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron||n.-1G>A|||||1512|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.-50G>A|||||1538|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.-42G>A|||||1546|,A|downstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.*395C>T|||||576|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding||c.*1094G>A|||||4569|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|20/20|c.1778+18G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|19/19|c.1758-207G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|19/19|c.1776-207G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|18/18|c.1722-207G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|18/18|c.1758-207G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|19/19|c.1778+18G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|13/13|n.1236-207G>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript|10/10|n.961-207G>A||||||,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|2/21|n.346+661G>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron|4/4|n.2280G>A|||||| 22 21335259 . C A . . ANN=A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.-360C>A|||||1043|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.-104C>A|||||1299|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron||n.-1C>A|||||1327|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.-50C>A|||||1353|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.-42C>A|||||1361|,A|downstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.*395G>T|||||391|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding||c.*1094C>A|||||4754|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|20/20|c.1779-22C>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|19/19|c.1758-22C>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|19/19|c.1776-22C>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|18/18|c.1722-22C>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|18/18|c.1758-22C>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|19/19|c.1779-22C>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|13/13|n.1236-22C>A||||||,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript|10/10|n.961-22C>A||||||,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|2/21|n.346+846C>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron|4/4|n.2465C>A|||||| 22 21335284 . T A . . ANN=A|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|21/21|c.1782T>A|p.Thr594Thr|2022/2387|1782/1818|594/605||,A|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|20/20|c.1761T>A|p.Thr587Thr|1946/2309|1761/1797|587/598||,A|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|20/20|c.1779T>A|p.Thr593Thr|1968/2333|1779/1815|593/604||,A|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|19/19|c.1725T>A|p.Thr575Thr|1832/2157|1725/1761|575/586||,A|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|19/19|c.1761T>A|p.Thr587Thr|1904/2230|1761/1797|587/598||,A|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|20/20|c.1782T>A|p.Thr594Thr|1925/2251|1782/1818|594/605||,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.-360T>A|||||1018|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.-104T>A|||||1274|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron||n.-1T>A|||||1302|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.-50T>A|||||1328|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.-42T>A|||||1336|,A|downstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.*395A>T|||||366|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding||c.*1094T>A|||||4779|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|2/21|n.346+871T>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|14/14|n.1239T>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript|11/11|n.964T>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron|4/4|n.2490T>A|||||| 22 21335329 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|21/21|c.*9G>A|||||9|,A|3_prime_UTR_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|20/20|c.*9G>A|||||9|,A|3_prime_UTR_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|20/20|c.*9G>A|||||9|,A|3_prime_UTR_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|19/19|c.*9G>A|||||9|,A|3_prime_UTR_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|19/19|c.*9G>A|||||9|,A|3_prime_UTR_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|20/20|c.*9G>A|||||9|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.-360G>A|||||973|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.-104G>A|||||1229|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron||n.-1G>A|||||1257|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.-50G>A|||||1283|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.-42G>A|||||1291|,A|downstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.*395C>T|||||321|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding||c.*1094G>A|||||4824|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|2/21|n.346+916G>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|14/14|n.1284G>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript|11/11|n.1009G>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron|4/4|n.2535G>A|||||| 22 21335344 . A G . . ANN=G|3_prime_UTR_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|21/21|c.*24A>G|||||24|,G|3_prime_UTR_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|20/20|c.*24A>G|||||24|,G|3_prime_UTR_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|20/20|c.*24A>G|||||24|,G|3_prime_UTR_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|19/19|c.*24A>G|||||24|,G|3_prime_UTR_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|19/19|c.*24A>G|||||24|,G|3_prime_UTR_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|20/20|c.*24A>G|||||24|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.-360A>G|||||958|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.-104A>G|||||1214|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron||n.-1A>G|||||1242|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.-50A>G|||||1268|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.-42A>G|||||1276|,G|downstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.*395T>C|||||306|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding||c.*1094A>G|||||4839|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|2/21|n.346+931A>G||||||,G|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|14/14|n.1299A>G||||||,G|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript|11/11|n.1024A>G||||||,G|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron|4/4|n.2550A>G|||||| 22 21336655 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|1/21|c.-6C>T|||||6|,T|5_prime_UTR_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay|1/8|n.-6C>T|||||6|,T|5_prime_UTR_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay|1/7|n.-6C>T|||||6|,T|5_prime_UTR_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|1/20|c.-6C>T|||||6|,T|upstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.-1G>A|||||611|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.-1C>T|||||3713|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding||c.*2058C>T|||||1006|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding||c.*1982C>T|||||1008|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding||c.*2004C>T|||||1006|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding||c.*1868C>T|||||1046|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding||c.*1940C>T|||||1045|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding||c.*1961C>T|||||1045|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript||n.*1592C>T|||||1018|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript||n.*1325C>T|||||1010|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.*2850C>T|||||1011|,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|2/21|n.347-661C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay|1/8|n.-6C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron|1/3|n.70C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay|1/7|n.-6C>T|||||| 22 21337266 . G A . . ANN=A|upstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.-1C>T|||||1222|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.-1G>A|||||3102|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding||c.*2058G>A|||||1617|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding||c.*1982G>A|||||1619|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding||c.*2004G>A|||||1617|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding||c.*1868G>A|||||1657|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding||c.*1940G>A|||||1656|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding||c.*1961G>A|||||1656|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript||n.*1592G>A|||||1629|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript||n.*1325G>A|||||1621|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.*2850G>A|||||1622|,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|1/20|c.201-50G>A||||||,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|2/21|n.347-50G>A||||||,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay|1/7|n.201-50G>A||||||,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron|1/2|n.276-50G>A||||||,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay|1/6|n.206-50G>A||||||,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|1/19|c.201-50G>A|||||| 22 21337276 . A G . . ANN=G|upstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.-1T>C|||||1232|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.-1A>G|||||3092|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding||c.*2058A>G|||||1627|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding||c.*1982A>G|||||1629|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding||c.*2004A>G|||||1627|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding||c.*1868A>G|||||1667|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding||c.*1940A>G|||||1666|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding||c.*1961A>G|||||1666|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript||n.*1592A>G|||||1639|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript||n.*1325A>G|||||1631|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.*2850A>G|||||1632|,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|1/20|c.201-40A>G||||||,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|2/21|n.347-40A>G||||||,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay|1/7|n.201-40A>G||||||,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron|1/2|n.276-40A>G||||||,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay|1/6|n.206-40A>G||||||,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|1/19|c.201-40A>G|||||| 22 21337303 . C T . . ANN=T|upstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.-1G>A|||||1259|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.-1C>T|||||3065|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding||c.*2058C>T|||||1654|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding||c.*1982C>T|||||1656|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding||c.*2004C>T|||||1654|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding||c.*1868C>T|||||1694|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding||c.*1940C>T|||||1693|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding||c.*1961C>T|||||1693|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript||n.*1592C>T|||||1666|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript||n.*1325C>T|||||1658|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.*2850C>T|||||1659|,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|1/20|c.201-13C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|2/21|n.347-13C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay|1/7|n.201-13C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron|1/2|n.276-13C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay|1/6|n.206-13C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|1/19|c.201-13C>T|||||| 22 21337306 . T C . . ANN=C|upstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.-1A>G|||||1262|,C|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.-1T>C|||||3062|,C|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding||c.*2058T>C|||||1657|,C|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding||c.*1982T>C|||||1659|,C|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding||c.*2004T>C|||||1657|,C|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding||c.*1868T>C|||||1697|,C|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding||c.*1940T>C|||||1696|,C|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding||c.*1961T>C|||||1696|,C|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript||n.*1592T>C|||||1669|,C|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript||n.*1325T>C|||||1661|,C|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.*2850T>C|||||1662|,C|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|1/20|c.201-10T>C||||||,C|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|2/21|n.347-10T>C||||||,C|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay|1/7|n.201-10T>C||||||,C|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron|1/2|n.276-10T>C||||||,C|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay|1/6|n.206-10T>C||||||,C|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|1/19|c.201-10T>C|||||| 22 21337308 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|1/20|c.201-8C>T||||||,T|splice_region_variant&intron_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|2/21|n.347-8C>T||||||,T|splice_region_variant&intron_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay|1/7|n.201-8C>T||||||,T|splice_region_variant&intron_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron|1/2|n.276-8C>T||||||,T|splice_region_variant&intron_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay|1/6|n.206-8C>T||||||,T|splice_region_variant&intron_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|1/19|c.201-8C>T||||||,T|upstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.-1G>A|||||1264|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.-1C>T|||||3060|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding||c.*2058C>T|||||1659|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding||c.*1982C>T|||||1661|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding||c.*2004C>T|||||1659|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding||c.*1868C>T|||||1699|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding||c.*1940C>T|||||1698|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding||c.*1961C>T|||||1698|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript||n.*1592C>T|||||1671|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript||n.*1325C>T|||||1663|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.*2850C>T|||||1664| 22 21337325 . G A . . ANN=A|synonymous_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|2/21|c.210G>A|p.Lys70Lys|569/4572|210/2523|70/840||,A|synonymous_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|2/20|c.210G>A|p.Lys70Lys|251/2625|210/2466|70/821||,A|upstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.-1C>T|||||1281|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.-1G>A|||||3043|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding||c.*2058G>A|||||1676|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding||c.*1982G>A|||||1678|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding||c.*2004G>A|||||1676|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding||c.*1868G>A|||||1716|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding||c.*1940G>A|||||1715|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding||c.*1961G>A|||||1715|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript||n.*1592G>A|||||1688|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript||n.*1325G>A|||||1680|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.*2850G>A|||||1681|,A|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|3/22|n.356G>A||||||,A|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay|2/8|n.210G>A||||||,A|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron|2/3|n.285G>A||||||,A|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay|2/7|n.215G>A|||||| 22 21337378 . GGTGA G . . ANN=|splice_region_variant&intron_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|2/20|c.263+7_263+10delGAGT||||||INFO_REALIGN_3_PRIME,|splice_region_variant&intron_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|3/21|n.409+7_409+10delGAGT||||||INFO_REALIGN_3_PRIME,|splice_region_variant&intron_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay|2/7|n.263+7_263+10delGAGT||||||INFO_REALIGN_3_PRIME,|splice_region_variant&intron_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron|2/2|n.338+7_338+10delGAGT||||||INFO_REALIGN_3_PRIME,|splice_region_variant&intron_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay|2/6|n.268+7_268+10delGAGT||||||INFO_REALIGN_3_PRIME,|splice_region_variant&intron_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|2/19|c.263+7_263+10delGAGT||||||INFO_REALIGN_3_PRIME,|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_1|ENST00000215739|protein_coding|4/21|c.263+1_263+4delGTGA||||||,|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_1|ENST00000215739|protein_coding|3/21|c.263+1_263+4delGTGA||||||,|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_1|ENST00000215739|protein_coding|2/21|c.263+1_263+4delGTGA||||||,|upstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.-1_-1delTCAC|||||1335|,|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.-1_-1delGTGA|||||2989|,|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding||c.*2058_*2058delGTGA|||||1730|,|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding||c.*1982_*1982delGTGA|||||1732|,|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding||c.*2004_*2004delGTGA|||||1730|,|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding||c.*1868_*1868delGTGA|||||1770|,|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding||c.*1940_*1940delGTGA|||||1769|,|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding||c.*1961_*1961delGTGA|||||1769|,|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript||n.*1592_*1592delGTGA|||||1742|,|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript||n.*1325_*1325delGTGA|||||1734|,|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.*2850_*2850delGTGA|||||1735| 22 21337385 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|2/20|c.263+7G>A||||||,A|splice_region_variant&intron_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|3/21|n.409+7G>A||||||,A|splice_region_variant&intron_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay|2/7|n.263+7G>A||||||,A|splice_region_variant&intron_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron|2/2|n.338+7G>A||||||,A|splice_region_variant&intron_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay|2/6|n.268+7G>A||||||,A|splice_region_variant&intron_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|2/19|c.263+7G>A||||||,A|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_1|ENST00000215739|protein_coding|4/21|c.263+7G>A||||||,A|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_1|ENST00000215739|protein_coding|3/21|c.263+7G>A||||||,A|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_1|ENST00000215739|protein_coding|2/21|c.263+7G>A||||||,A|upstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.-1C>T|||||1341|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.-1G>A|||||2983|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding||c.*2058G>A|||||1736|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding||c.*1982G>A|||||1738|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding||c.*2004G>A|||||1736|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding||c.*1868G>A|||||1776|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding||c.*1940G>A|||||1775|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding||c.*1961G>A|||||1775|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript||n.*1592G>A|||||1748|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript||n.*1325G>A|||||1740|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.*2850G>A|||||1741| 22 21337415 . C G . . ANN=G|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_1|ENST00000215739|protein_coding|4/21|c.263+37C>G||||||,G|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_1|ENST00000215739|protein_coding|3/21|c.263+37C>G||||||,G|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_1|ENST00000215739|protein_coding|2/21|c.263+37C>G||||||,G|upstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.-1G>C|||||1371|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.-1C>G|||||2953|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding||c.*2058C>G|||||1766|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding||c.*1982C>G|||||1768|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding||c.*2004C>G|||||1766|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding||c.*1868C>G|||||1806|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding||c.*1940C>G|||||1805|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding||c.*1961C>G|||||1805|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript||n.*1592C>G|||||1778|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript||n.*1325C>G|||||1770|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.*2850C>G|||||1771|,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|2/20|c.263+37C>G||||||,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|3/21|n.409+37C>G||||||,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay|2/7|n.263+37C>G||||||,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron|2/2|n.338+37C>G||||||,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay|2/6|n.268+37C>G||||||,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|2/19|c.263+37C>G|||||| 22 21337421 . A G . . ANN=G|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_1|ENST00000215739|protein_coding|4/21|c.263+43A>G||||||,G|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_1|ENST00000215739|protein_coding|3/21|c.263+43A>G||||||,G|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_1|ENST00000215739|protein_coding|2/21|c.263+43A>G||||||,G|upstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.-1T>C|||||1377|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.-1A>G|||||2947|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding||c.*2058A>G|||||1772|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding||c.*1982A>G|||||1774|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding||c.*2004A>G|||||1772|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding||c.*1868A>G|||||1812|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding||c.*1940A>G|||||1811|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding||c.*1961A>G|||||1811|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript||n.*1592A>G|||||1784|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript||n.*1325A>G|||||1776|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.*2850A>G|||||1777|,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|2/20|c.263+43A>G||||||,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|3/21|n.409+43A>G||||||,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay|2/7|n.263+43A>G||||||,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron|2/2|n.338+43A>G||||||,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay|2/6|n.268+43A>G||||||,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|2/19|c.263+43A>G|||||| 22 21340088 . T C . . ANN=C|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_1|ENST00000215739|protein_coding|4/21|c.264-42T>C||||||,C|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_1|ENST00000215739|protein_coding|3/21|c.264-42T>C||||||,C|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_1|ENST00000215739|protein_coding|2/21|c.264-42T>C||||||,C|upstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.-1A>G|||||4044|,C|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.-1T>C|||||280|,C|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.-1T>C|||||3850|,C|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding||c.*2058T>C|||||4439|,C|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding||c.*1982T>C|||||4441|,C|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding||c.*2004T>C|||||4439|,C|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding||c.*1868T>C|||||4479|,C|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding||c.*1940T>C|||||4478|,C|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding||c.*1961T>C|||||4478|,C|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript||n.*1592T>C|||||4451|,C|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript||n.*1325T>C|||||4443|,C|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.*2850T>C|||||4444|,C|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|2/20|c.264-42T>C||||||,C|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|3/21|n.410-42T>C||||||,C|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay|2/7|n.264-42T>C||||||,C|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron|2/2|n.339-42T>C||||||,C|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay|2/6|n.269-42T>C||||||,C|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|2/19|c.264-1705T>C|||||| 22 21340116 . C T . . ANN=T|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_1|ENST00000215739|protein_coding|4/21|c.264-14C>T||||||,T|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_1|ENST00000215739|protein_coding|3/21|c.264-14C>T||||||,T|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_1|ENST00000215739|protein_coding|2/21|c.264-14C>T||||||,T|upstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.-1G>A|||||4072|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.-1C>T|||||252|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.-1C>T|||||3822|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding||c.*2058C>T|||||4467|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding||c.*1982C>T|||||4469|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding||c.*2004C>T|||||4467|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding||c.*1868C>T|||||4507|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding||c.*1940C>T|||||4506|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding||c.*1961C>T|||||4506|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript||n.*1592C>T|||||4479|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript||n.*1325C>T|||||4471|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.*2850C>T|||||4472|,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|2/20|c.264-14C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|3/21|n.410-14C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay|2/7|n.264-14C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron|2/2|n.339-14C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay|2/6|n.269-14C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|2/19|c.264-1677C>T|||||| 22 21340198 . C T . . ANN=T|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_1|ENST00000215739|protein_coding|4/21|c.320+12C>T||||||,T|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_1|ENST00000215739|protein_coding|3/21|c.320+12C>T||||||,T|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_1|ENST00000215739|protein_coding|2/21|c.320+12C>T||||||,T|upstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.-1G>A|||||4154|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.-1C>T|||||170|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.-1C>T|||||3740|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding||c.*2058C>T|||||4549|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding||c.*1982C>T|||||4551|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding||c.*2004C>T|||||4549|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding||c.*1868C>T|||||4589|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding||c.*1940C>T|||||4588|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding||c.*1961C>T|||||4588|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript||n.*1592C>T|||||4561|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript||n.*1325C>T|||||4553|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.*2850C>T|||||4554|,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|3/20|c.320+12C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|4/21|n.466+12C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay|3/7|n.320+12C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay|3/6|n.*19+12C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|2/19|c.264-1595C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron|3/3|n.407C>T|||||| 22 21340199 . G A . . ANN=A|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_1|ENST00000215739|protein_coding|4/21|c.320+13G>A||||||,A|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_1|ENST00000215739|protein_coding|3/21|c.320+13G>A||||||,A|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_1|ENST00000215739|protein_coding|2/21|c.320+13G>A||||||,A|upstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.-1C>T|||||4155|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.-1G>A|||||169|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.-1G>A|||||3739|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding||c.*2058G>A|||||4550|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding||c.*1982G>A|||||4552|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding||c.*2004G>A|||||4550|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding||c.*1868G>A|||||4590|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding||c.*1940G>A|||||4589|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding||c.*1961G>A|||||4589|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript||n.*1592G>A|||||4562|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript||n.*1325G>A|||||4554|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.*2850G>A|||||4555|,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|3/20|c.320+13G>A||||||,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|4/21|n.466+13G>A||||||,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay|3/7|n.320+13G>A||||||,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay|3/6|n.*19+13G>A||||||,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|2/19|c.264-1594G>A||||||,A|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron|3/3|n.408G>A|||||| 22 21341771 . A G . . ANN=G|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_1|ENST00000215739|protein_coding|4/21|c.321-22A>G||||||,G|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_1|ENST00000215739|protein_coding|3/21|c.321-22A>G||||||,G|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_1|ENST00000215739|protein_coding|2/21|c.321-22A>G||||||,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.-1A>G|||||2167|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.-1A>G|||||4254|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron||n.-1A>G|||||4299|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron||n.*412A>G|||||1568|,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|3/20|c.321-22A>G||||||,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|4/21|n.467-22A>G||||||,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay|3/7|n.321-528A>G||||||,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay|3/6|n.*20-22A>G||||||,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|2/19|c.264-22A>G||||||,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript|1/5|n.97-528A>G|||||| 22 21341896 . G A . . ANN=A|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_2|ENST00000215739|protein_coding|6/21|c.400+24G>A||||||,A|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_2|ENST00000215739|protein_coding|4/21|c.400+24G>A||||||,A|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_2|ENST00000215739|protein_coding|5/21|c.400+24G>A||||||,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.-1G>A|||||2042|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.-1G>A|||||4129|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron||n.-1G>A|||||4174|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron||n.*412G>A|||||1693|,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|4/20|c.400+24G>A||||||,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|5/21|n.546+24G>A||||||,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay|3/7|n.321-403G>A||||||,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay|4/6|n.*99+24G>A||||||,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|3/19|c.343+24G>A||||||,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript|1/5|n.97-403G>A|||||| 22 21341910 . C T . . ANN=T|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_2|ENST00000215739|protein_coding|6/21|c.400+38C>T||||||,T|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_2|ENST00000215739|protein_coding|4/21|c.400+38C>T||||||,T|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_2|ENST00000215739|protein_coding|5/21|c.400+38C>T||||||,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.-1C>T|||||2028|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.-1C>T|||||4115|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron||n.-1C>T|||||4160|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron||n.*412C>T|||||1707|,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|4/20|c.400+38C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|5/21|n.546+38C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay|3/7|n.321-389C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay|4/6|n.*99+38C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|3/19|c.343+38C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript|1/5|n.97-389C>T|||||| 22 21342253 . C T . . ANN=T|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_2|ENST00000215739|protein_coding|6/21|c.401-46C>T||||||,T|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_2|ENST00000215739|protein_coding|4/21|c.401-46C>T||||||,T|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_2|ENST00000215739|protein_coding|5/21|c.401-46C>T||||||,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.-1C>T|||||1685|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.-1C>T|||||3772|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron||n.-1C>T|||||3817|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron||n.*412C>T|||||2050|,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|4/20|c.401-46C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|5/21|n.547-46C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay|3/7|n.321-46C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay|4/6|n.*100-46C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|3/19|c.344-46C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript|1/5|n.97-46C>T|||||| 22 21342273 . G A . . ANN=A|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_2|ENST00000215739|protein_coding|6/21|c.401-26G>A||||||,A|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_2|ENST00000215739|protein_coding|4/21|c.401-26G>A||||||,A|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_2|ENST00000215739|protein_coding|5/21|c.401-26G>A||||||,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.-1G>A|||||1665|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.-1G>A|||||3752|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron||n.-1G>A|||||3797|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron||n.*412G>A|||||2070|,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|4/20|c.401-26G>A||||||,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|5/21|n.547-26G>A||||||,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay|3/7|n.321-26G>A||||||,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay|4/6|n.*100-26G>A||||||,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|3/19|c.344-26G>A||||||,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript|1/5|n.97-26G>A|||||| 22 21342451 . G T . . ANN=T|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_2|ENST00000215739|protein_coding|6/21|c.509+44G>T||||||,T|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_2|ENST00000215739|protein_coding|4/21|c.509+44G>T||||||,T|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_2|ENST00000215739|protein_coding|5/21|c.509+44G>T||||||,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.-1G>T|||||1487|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.-1G>T|||||3574|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron||n.-1G>T|||||3619|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron||n.*412G>T|||||2248|,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|5/20|c.509+44G>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|6/21|n.655+44G>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay|4/7|n.*75+44G>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay|5/6|n.*208+44G>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|4/19|c.452+44G>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript|2/5|n.205+44G>T|||||| 22 21343172 . G A . . ANN=A|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_3|ENST00000215739|protein_coding|6/21|c.593+11G>A||||||,A|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_3|ENST00000215739|protein_coding|7/21|c.593+11G>A||||||,A|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_3|ENST00000215739|protein_coding|8/21|c.593+11G>A||||||,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.-1G>A|||||766|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.-1G>A|||||2853|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron||n.-1G>A|||||2898|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron||n.*412G>A|||||2969|,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|6/20|c.593+11G>A||||||,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|7/21|n.739+11G>A||||||,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay|5/7|n.*159+11G>A||||||,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay|6/6|n.*292+11G>A||||||,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|5/19|c.536+11G>A||||||,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript|3/5|n.289+11G>A|||||| 22 21343195 . C T . . ANN=T|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_3|ENST00000215739|protein_coding|6/21|c.593+34C>T||||||,T|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_3|ENST00000215739|protein_coding|7/21|c.593+34C>T||||||,T|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_3|ENST00000215739|protein_coding|8/21|c.593+34C>T||||||,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.-1C>T|||||743|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.-1C>T|||||2830|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron||n.-1C>T|||||2875|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron||n.*412C>T|||||2992|,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|6/20|c.593+34C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|7/21|n.739+34C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay|5/7|n.*159+34C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay|6/6|n.*292+34C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|5/19|c.536+34C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript|3/5|n.289+34C>T|||||| 22 21343981 . GTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCA G . . ANN=|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_3|ENST00000215739|protein_coding|6/21|c.651+11_651+47delTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCA||||||,|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_3|ENST00000215739|protein_coding|7/21|c.651+11_651+47delTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCA||||||,|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_3|ENST00000215739|protein_coding|8/21|c.651+11_651+47delTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCA||||||,|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.-1_-1delTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCA|||||2043|,|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron||n.-1_-1delTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCA|||||2088|,|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.-1_-1delTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCA|||||4534|,|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.-1_-1delTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCA|||||4634|,|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.-1_-1delTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCA|||||4784|,|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.-2_-2delTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCA|||||4968|,|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.-1_-1delTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCA|||||4989|,|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron||n.*412_*412delTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCA|||||3779|,|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.*355_*355delTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCA|||||18|,|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|7/20|c.651+11_651+47delTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCA||||||,|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|8/21|n.797+11_797+47delTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCA||||||,|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay|6/7|n.*217+11_*217+47delTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCA||||||,|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|6/19|c.594+11_594+47delTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCA||||||,|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript|4/5|n.347+11_347+47delTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCA||||||,|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript|1/4|n.34+11_34+47delTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCA|||||| 22 21343982 . TGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCAC T . . ANN=|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_3|ENST00000215739|protein_coding|6/21|c.651+12_651+48delGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCAC||||||,|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_3|ENST00000215739|protein_coding|7/21|c.651+12_651+48delGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCAC||||||,|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_3|ENST00000215739|protein_coding|8/21|c.651+12_651+48delGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCAC||||||,|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.-1_-1delGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCAC|||||2042|,|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron||n.-1_-1delGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCAC|||||2087|,|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.-1_-1delGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCAC|||||4533|,|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.-1_-1delGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCAC|||||4633|,|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.-1_-1delGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCAC|||||4783|,|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.-2_-2delGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCAC|||||4967|,|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.-1_-1delGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCAC|||||4988|,|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron||n.*412_*412delGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCAC|||||3780|,|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.*355_*355delGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCAC|||||19|,|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|7/20|c.651+31_651+67delAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|8/21|n.797+31_797+67delAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay|6/7|n.*217+31_*217+67delAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|6/19|c.594+31_594+67delAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript|4/5|n.347+31_347+67delAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript|1/4|n.34+31_34+67delAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGT||||||INFO_REALIGN_3_PRIME 22 21344002 . AGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTG A . . ANN=|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_3|ENST00000215739|protein_coding|6/21|c.651+32_651+68delGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTG||||||,|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_3|ENST00000215739|protein_coding|7/21|c.651+32_651+68delGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTG||||||,|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_3|ENST00000215739|protein_coding|8/21|c.651+32_651+68delGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTG||||||,|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.-1_-1delGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTG|||||2022|,|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron||n.-1_-1delGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTG|||||2067|,|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.-1_-1delGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTG|||||4513|,|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.-1_-1delGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTG|||||4613|,|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.-1_-1delGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTG|||||4763|,|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.-2_-2delGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTG|||||4947|,|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.-1_-1delGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTG|||||4968|,|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron||n.*412_*412delGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTG|||||3800|,|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.*355_*355delGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTG|||||39|,|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|7/20|c.651+48_651+84delCGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCA||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|8/21|n.797+48_797+84delCGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCA||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay|6/7|n.*217+48_*217+84delCGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCA||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|6/19|c.594+48_594+84delCGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCA||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript|4/5|n.347+48_347+84delCGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCA||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript|1/4|n.34+48_34+84delCGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCA||||||INFO_REALIGN_3_PRIME 22 21344651 . C T . . ANN=T|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_3|ENST00000215739|protein_coding|6/21|c.652-24C>T||||||,T|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_3|ENST00000215739|protein_coding|7/21|c.652-24C>T||||||,T|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_3|ENST00000215739|protein_coding|8/21|c.652-24C>T||||||,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.-1C>T|||||1374|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron||n.-1C>T|||||1419|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.-1C>T|||||3865|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.-1C>T|||||3965|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.-1C>T|||||4115|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.-2C>T|||||4299|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.-1C>T|||||4320|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.-1C>T|||||4544|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.-1C>T|||||4727|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron||n.*412C>T|||||4448|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.*355C>T|||||687|,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|7/20|c.652-24C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|8/21|n.798-24C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay|6/7|n.*218-24C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|6/19|c.595-24C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript|4/5|n.348-24C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript|1/4|n.35-24C>T|||||| 22 21344689 . C T . . ANN=T|synonymous_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|8/21|c.666C>T|p.Gly222Gly|1025/4572|666/2523|222/840||,T|synonymous_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|7/20|c.609C>T|p.Gly203Gly|650/2625|609/2466|203/821||,T|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_3|ENST00000215739|protein_coding|6/21|c.666C>T||||||,T|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_3|ENST00000215739|protein_coding|7/21|c.666C>T||||||,T|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_3|ENST00000215739|protein_coding|8/21|c.666C>T||||||,T|3_prime_UTR_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay|7/8|n.*232C>T|||||2357|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.-1C>T|||||1336|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron||n.-1C>T|||||1381|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.-1C>T|||||3827|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.-1C>T|||||3927|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.-1C>T|||||4077|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.-2C>T|||||4261|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.-1C>T|||||4282|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.-1C>T|||||4506|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.-1C>T|||||4689|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron||n.*412C>T|||||4486|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.*355C>T|||||725|,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|9/22|n.812C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay|7/8|n.*232C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript|5/6|n.362C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript|2/5|n.49C>T|||||| 22 21344701 . A T . . ANN=T|synonymous_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|8/21|c.678A>T|p.Pro226Pro|1037/4572|678/2523|226/840||,T|synonymous_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|7/20|c.621A>T|p.Pro207Pro|662/2625|621/2466|207/821||,T|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_3|ENST00000215739|protein_coding|6/21|c.678A>T||||||,T|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_3|ENST00000215739|protein_coding|7/21|c.678A>T||||||,T|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_3|ENST00000215739|protein_coding|8/21|c.678A>T||||||,T|3_prime_UTR_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay|7/8|n.*244A>T|||||2369|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.-1A>T|||||1324|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron||n.-1A>T|||||1369|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.-1A>T|||||3815|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.-1A>T|||||3915|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.-1A>T|||||4065|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.-2A>T|||||4249|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.-1A>T|||||4270|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.-1A>T|||||4494|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.-1A>T|||||4677|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron||n.*412A>T|||||4498|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.*355A>T|||||737|,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|9/22|n.824A>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay|7/8|n.*244A>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript|5/6|n.374A>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript|2/5|n.61A>T|||||| 22 21344746 . T C . . ANN=C|synonymous_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|8/21|c.723T>C|p.Phe241Phe|1082/4572|723/2523|241/840||,C|synonymous_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|7/20|c.666T>C|p.Phe222Phe|707/2625|666/2466|222/821||,C|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_4|ENST00000215739|protein_coding|8/21|c.723T>C||||||,C|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_4|ENST00000215739|protein_coding|9/21|c.723T>C||||||,C|3_prime_UTR_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay|7/8|n.*289T>C|||||2414|,C|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.-1T>C|||||1279|,C|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron||n.-1T>C|||||1324|,C|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.-1T>C|||||3770|,C|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.-1T>C|||||3870|,C|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.-1T>C|||||4020|,C|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.-2T>C|||||4204|,C|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.-1T>C|||||4225|,C|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.-1T>C|||||4449|,C|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.-1T>C|||||4632|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron||n.*412T>C|||||4543|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.*355T>C|||||782|,C|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|9/22|n.869T>C||||||,C|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay|7/8|n.*289T>C||||||,C|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript|5/6|n.419T>C||||||,C|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript|2/5|n.106T>C|||||| 22 21344764 . C T . . ANN=T|synonymous_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|8/21|c.741C>T|p.Ser247Ser|1100/4572|741/2523|247/840||,T|synonymous_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|7/20|c.684C>T|p.Ser228Ser|725/2625|684/2466|228/821||,T|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_4|ENST00000215739|protein_coding|8/21|c.741C>T||||||,T|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_4|ENST00000215739|protein_coding|9/21|c.741C>T||||||,T|3_prime_UTR_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay|7/8|n.*307C>T|||||2432|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.-1C>T|||||1261|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron||n.-1C>T|||||1306|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.-1C>T|||||3752|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.-1C>T|||||3852|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.-1C>T|||||4002|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.-2C>T|||||4186|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.-1C>T|||||4207|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.-1C>T|||||4431|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.-1C>T|||||4614|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron||n.*412C>T|||||4561|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.*355C>T|||||800|,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|9/22|n.887C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay|7/8|n.*307C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript|5/6|n.437C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript|2/5|n.124C>T|||||| 22 21344848 . C T . . ANN=T|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_4|ENST00000215739|protein_coding|8/21|c.791+34C>T||||||,T|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_4|ENST00000215739|protein_coding|9/21|c.791+34C>T||||||,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.-1C>T|||||1177|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron||n.-1C>T|||||1222|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.-1C>T|||||3668|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.-1C>T|||||3768|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.-1C>T|||||3918|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.-2C>T|||||4102|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.-1C>T|||||4123|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.-1C>T|||||4347|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.-1C>T|||||4530|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron||n.*412C>T|||||4645|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.*355C>T|||||884|,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|8/20|c.791+34C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|9/21|n.937+34C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay|7/7|n.*357+34C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|7/19|c.734+34C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript|5/5|n.487+34C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript|2/5|n.208C>T|||||| 22 21345980 . C T . . ANN=T|synonymous_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|9/21|c.855C>T|p.Tyr285Tyr|1214/4572|855/2523|285/840||,T|synonymous_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|8/20|c.798C>T|p.Tyr266Tyr|839/2625|798/2466|266/821||,T|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_4|ENST00000215739|protein_coding|8/21|c.855C>T||||||,T|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_4|ENST00000215739|protein_coding|9/21|c.855C>T||||||,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.-1C>T|||||45|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron||n.-1C>T|||||90|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.-1C>T|||||2536|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.-1C>T|||||2636|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.-1C>T|||||2786|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.-2C>T|||||2970|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.-1C>T|||||2991|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.-1C>T|||||3215|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.-1C>T|||||3398|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.-1C>T|||||4097|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.-2C>T|||||4305|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.*457C>T|||||6|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.*355C>T|||||2016|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.*539C>T|||||12|,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|10/22|n.1001C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript|3/5|n.682C>T|||||| 22 21346031 . G A . . ANN=A|synonymous_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|9/21|c.906G>A|p.Ala302Ala|1265/4572|906/2523|302/840||,A|synonymous_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|8/20|c.849G>A|p.Ala283Ala|890/2625|849/2466|283/821||,A|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_5|ENST00000215739|protein_coding|10/21|c.906G>A||||||,A|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_5|ENST00000215739|protein_coding|9/21|c.906G>A||||||,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron||n.-1G>A|||||39|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.-1G>A|||||2485|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.-1G>A|||||2585|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.-1G>A|||||2735|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.-2G>A|||||2919|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.-1G>A|||||2940|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.-1G>A|||||3164|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.-1G>A|||||3347|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.-1G>A|||||4046|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.-2G>A|||||4254|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.*457G>A|||||57|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.*355G>A|||||2067|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.*539G>A|||||63|,A|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|10/22|n.1052G>A||||||,A|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript|3/5|n.733G>A||||||,A|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron|1/2|n.7G>A|||||| 22 21346095 . G A . . ANN=A|missense_variant|MODERATE|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|9/21|c.970G>A|p.Val324Ile|1329/4572|970/2523|324/840||,A|missense_variant|MODERATE|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|8/20|c.913G>A|p.Val305Ile|954/2625|913/2466|305/821||,A|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_5|ENST00000215739|protein_coding|10/21|c.970G>A||||||,A|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_5|ENST00000215739|protein_coding|9/21|c.970G>A||||||,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.-1G>A|||||2421|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.-1G>A|||||2521|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.-1G>A|||||2671|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.-2G>A|||||2855|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.-1G>A|||||2876|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.-1G>A|||||3100|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.-1G>A|||||3283|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.-1G>A|||||3982|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.-2G>A|||||4190|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.*457G>A|||||121|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.*355G>A|||||2131|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.*539G>A|||||127|,A|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|10/22|n.1116G>A||||||,A|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript|3/5|n.797G>A||||||,A|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron|1/2|n.71G>A||||||,A|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron|1/6|n.26G>A|||||| 22 21346458 . G A . . ANN=A|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_5|ENST00000215739|protein_coding|10/21|c.994-45G>A||||||,A|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_5|ENST00000215739|protein_coding|9/21|c.994-45G>A||||||,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.-1G>A|||||2058|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.-1G>A|||||2158|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.-1G>A|||||2308|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.-2G>A|||||2492|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.-1G>A|||||2513|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.-1G>A|||||2737|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.-1G>A|||||2920|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.-1G>A|||||3619|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.-2G>A|||||3827|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.*457G>A|||||484|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.*355G>A|||||2494|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.*539G>A|||||490|,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|9/20|c.994-45G>A||||||,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|10/21|n.1140-45G>A||||||,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|8/19|c.937-45G>A||||||,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript|3/4|n.821-45G>A||||||,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron|1/1|n.95-45G>A||||||,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron|1/5|n.50-45G>A|||||| 22 21346485 . T C . . ANN=C|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_5|ENST00000215739|protein_coding|10/21|c.994-18T>C||||||,C|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_5|ENST00000215739|protein_coding|9/21|c.994-18T>C||||||,C|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.-1T>C|||||2031|,C|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.-1T>C|||||2131|,C|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.-1T>C|||||2281|,C|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.-2T>C|||||2465|,C|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.-1T>C|||||2486|,C|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.-1T>C|||||2710|,C|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.-1T>C|||||2893|,C|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.-1T>C|||||3592|,C|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.-2T>C|||||3800|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.*457T>C|||||511|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.*355T>C|||||2521|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.*539T>C|||||517|,C|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|9/20|c.994-18T>C||||||,C|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|10/21|n.1140-18T>C||||||,C|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|8/19|c.937-18T>C||||||,C|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript|3/4|n.821-18T>C||||||,C|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron|1/1|n.95-18T>C||||||,C|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron|1/5|n.50-18T>C|||||| 22 21346557 . C T . . ANN=T|synonymous_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|10/21|c.1048C>T|p.Leu350Leu|1407/4572|1048/2523|350/840||,T|synonymous_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|9/20|c.991C>T|p.Leu331Leu|1032/2625|991/2466|331/821||,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.-1C>T|||||1959|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.-1C>T|||||2059|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.-1C>T|||||2209|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.-2C>T|||||2393|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.-1C>T|||||2414|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.-1C>T|||||2638|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.-1C>T|||||2821|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.-1C>T|||||3520|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.-2C>T|||||3728|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.*457C>T|||||583|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.*355C>T|||||2593|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.*539C>T|||||589|,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|11/22|n.1194C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript|4/5|n.875C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron|2/2|n.149C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron|2/6|n.104C>T|||||| 22 21346674 . C A . . ANN=A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.-1C>A|||||1842|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.-1C>A|||||1942|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.-1C>A|||||2092|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.-2C>A|||||2276|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.-1C>A|||||2297|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.-1C>A|||||2521|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.-1C>A|||||2704|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.-1C>A|||||3403|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.-2C>A|||||3611|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.*457C>A|||||700|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.*355C>A|||||2710|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.*539C>A|||||706|,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|10/20|c.1149+16C>A||||||,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|11/21|n.1295+16C>A||||||,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|9/19|c.1092+16C>A||||||,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript|4/4|n.976+16C>A||||||,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron|2/5|n.205+16C>A||||||,A|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron|2/2|n.266C>A|||||| 22 21347142 . C T . . ANN=T|synonymous_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|11/21|c.1209C>T|p.Phe403Phe|1568/4572|1209/2523|403/840||,T|synonymous_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|10/20|c.1152C>T|p.Phe384Phe|1193/2625|1152/2466|384/821||,T|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_6|ENST00000215739|protein_coding|12/21|c.1209C>T||||||,T|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_6|ENST00000215739|protein_coding|11/21|c.1209C>T||||||,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.-1C>T|||||1374|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.-1C>T|||||1474|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.-1C>T|||||1624|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.-2C>T|||||1808|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.-1C>T|||||1829|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.-1C>T|||||2053|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.-1C>T|||||2236|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.-1C>T|||||2935|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.-2C>T|||||3143|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.*457C>T|||||1168|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.*355C>T|||||3178|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.*539C>T|||||1174|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.*1031C>T|||||5|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.*413C>T|||||321|,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|12/22|n.1355C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron|3/6|n.265C>T|||||| 22 21347194 . G T . . ANN=T|splice_donor_variant&intron_variant|HIGH|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|11/20|c.1260+1G>T||||||,T|splice_donor_variant&intron_variant|HIGH|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|12/21|n.1406+1G>T||||||,T|splice_donor_variant&intron_variant|HIGH|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|10/19|c.1203+1G>T||||||,T|splice_region_variant&intron_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron|3/5|n.309+8G>T||||||,T|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_6|ENST00000215739|protein_coding|12/21|c.1260+1G>T||||||,T|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_6|ENST00000215739|protein_coding|11/21|c.1260+1G>T||||||,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.-1G>T|||||1322|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.-1G>T|||||1422|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.-1G>T|||||1572|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.-2G>T|||||1756|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.-1G>T|||||1777|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.-1G>T|||||2001|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.-1G>T|||||2184|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.-1G>T|||||2883|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.-2G>T|||||3091|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.*457G>T|||||1220|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.*355G>T|||||3230|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.*539G>T|||||1226|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.*1031G>T|||||57|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.*413G>T|||||373|;LOF=(LZTR1|ENSG00000099949|19|0.11) 22 21347220 . C T . . ANN=T|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_6|ENST00000215739|protein_coding|12/21|c.1260+27C>T||||||,T|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_6|ENST00000215739|protein_coding|11/21|c.1260+27C>T||||||,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.-1C>T|||||1296|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.-1C>T|||||1396|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.-1C>T|||||1546|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.-2C>T|||||1730|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.-1C>T|||||1751|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.-1C>T|||||1975|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.-1C>T|||||2158|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.-1C>T|||||2857|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.-2C>T|||||3065|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.*457C>T|||||1246|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.*355C>T|||||3256|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.*539C>T|||||1252|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.*1031C>T|||||83|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.*413C>T|||||399|,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|11/20|c.1260+27C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|12/21|n.1406+27C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|10/19|c.1203+27C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron|3/5|n.309+34C>T|||||| 22 21347925 . C G . . ANN=G|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_6|ENST00000215739|protein_coding|12/21|c.1261-26C>G||||||,G|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_6|ENST00000215739|protein_coding|11/21|c.1261-26C>G||||||,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.-1C>G|||||591|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.-1C>G|||||691|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.-1C>G|||||841|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.-2C>G|||||1025|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.-1C>G|||||1046|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.-1C>G|||||1270|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.-1C>G|||||1453|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.-1C>G|||||2152|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.-2C>G|||||2360|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.*457C>G|||||1951|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.*355C>G|||||3961|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.*539C>G|||||1957|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.*1031C>G|||||788|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.*413C>G|||||1104|,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|11/20|c.1261-26C>G||||||,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|12/21|n.1407-26C>G||||||,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|10/19|c.1204-26C>G||||||,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron|3/5|n.310-26C>G|||||| 22 21348051 . C G . . ANN=G|splice_region_variant&intron_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|12/20|c.1353+8C>G||||||,G|splice_region_variant&intron_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|13/21|n.1499+8C>G||||||,G|splice_region_variant&intron_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|11/19|c.1296+8C>G||||||,G|splice_region_variant&intron_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron|4/5|n.402+8C>G||||||,G|sequence_feature|LOW|LZTR1|ENSG00000099949|domain:BTB_1|ENST00000215739|protein_coding|14/21|c.1353+8C>G||||||,G|sequence_feature|LOW|LZTR1|ENSG00000099949|domain:BTB_1|ENST00000215739|protein_coding|13/21|c.1353+8C>G||||||,G|sequence_feature|LOW|LZTR1|ENSG00000099949|domain:BTB_1|ENST00000215739|protein_coding|12/21|c.1353+8C>G||||||,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.-1C>G|||||465|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.-1C>G|||||565|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.-1C>G|||||715|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.-2C>G|||||899|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.-1C>G|||||920|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.-1C>G|||||1144|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.-1C>G|||||1327|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.-1C>G|||||2026|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.-2C>G|||||2234|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.*457C>G|||||2077|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.*355C>G|||||4087|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.*539C>G|||||2083|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.*1031C>G|||||914|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.*413C>G|||||1230| 22 21348084 . T C . . ANN=C|sequence_feature|LOW|LZTR1|ENSG00000099949|domain:BTB_1|ENST00000215739|protein_coding|14/21|c.1353+41T>C||||||,C|sequence_feature|LOW|LZTR1|ENSG00000099949|domain:BTB_1|ENST00000215739|protein_coding|13/21|c.1353+41T>C||||||,C|sequence_feature|LOW|LZTR1|ENSG00000099949|domain:BTB_1|ENST00000215739|protein_coding|12/21|c.1353+41T>C||||||,C|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.-1T>C|||||432|,C|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.-1T>C|||||532|,C|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.-1T>C|||||682|,C|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.-2T>C|||||866|,C|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.-1T>C|||||887|,C|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.-1T>C|||||1111|,C|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.-1T>C|||||1294|,C|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.-1T>C|||||1993|,C|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.-2T>C|||||2201|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.*457T>C|||||2110|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.*355T>C|||||4120|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.*539T>C|||||2116|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.*1031T>C|||||947|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.*413T>C|||||1263|,C|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|12/20|c.1353+41T>C||||||,C|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|13/21|n.1499+41T>C||||||,C|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|11/19|c.1296+41T>C||||||,C|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron|4/5|n.402+41T>C|||||| 22 21348266 . G A . . ANN=A|stop_gained|HIGH|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|13/21|c.1407G>A|p.Trp469*|1766/4572|1407/2523|469/840||,A|stop_gained|HIGH|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|12/20|c.1350G>A|p.Trp450*|1391/2625|1350/2466|450/821||,A|sequence_feature|LOW|LZTR1|ENSG00000099949|domain:BTB_1|ENST00000215739|protein_coding|14/21|c.1407G>A||||||,A|sequence_feature|LOW|LZTR1|ENSG00000099949|domain:BTB_1|ENST00000215739|protein_coding|13/21|c.1407G>A||||||,A|sequence_feature|LOW|LZTR1|ENSG00000099949|domain:BTB_1|ENST00000215739|protein_coding|12/21|c.1407G>A||||||,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.-1G>A|||||250|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.-1G>A|||||350|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.-1G>A|||||500|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.-2G>A|||||684|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.-1G>A|||||705|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.-1G>A|||||929|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.-1G>A|||||1112|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.-1G>A|||||1811|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.-2G>A|||||2019|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.*457G>A|||||2292|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.*355G>A|||||4302|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.*539G>A|||||2298|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.*1031G>A|||||1129|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.*413G>A|||||1445|,A|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|14/22|n.1553G>A||||||,A|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron|5/6|n.456G>A||||||;LOF=(LZTR1|ENSG00000099949|19|0.11);NMD=(LZTR1|ENSG00000099949|19|0.11) 22 21348284 . G A . . ANN=A|synonymous_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|13/21|c.1425G>A|p.Thr475Thr|1784/4572|1425/2523|475/840||,A|synonymous_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|12/20|c.1368G>A|p.Thr456Thr|1409/2625|1368/2466|456/821||,A|sequence_feature|LOW|LZTR1|ENSG00000099949|domain:BTB_1|ENST00000215739|protein_coding|14/21|c.1425G>A||||||,A|sequence_feature|LOW|LZTR1|ENSG00000099949|domain:BTB_1|ENST00000215739|protein_coding|13/21|c.1425G>A||||||,A|sequence_feature|LOW|LZTR1|ENSG00000099949|domain:BTB_1|ENST00000215739|protein_coding|12/21|c.1425G>A||||||,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.-1G>A|||||232|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.-1G>A|||||332|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.-1G>A|||||482|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.-2G>A|||||666|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.-1G>A|||||687|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.-1G>A|||||911|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.-1G>A|||||1094|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.-1G>A|||||1793|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.-2G>A|||||2001|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.*457G>A|||||2310|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.*355G>A|||||4320|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.*539G>A|||||2316|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.*1031G>A|||||1147|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.*413G>A|||||1463|,A|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|14/22|n.1571G>A||||||,A|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron|5/6|n.474G>A|||||| 22 21348348 . G T . . ANN=T|sequence_feature|LOW|LZTR1|ENSG00000099949|domain:BTB_1|ENST00000215739|protein_coding|14/21|c.1449+40G>T||||||,T|sequence_feature|LOW|LZTR1|ENSG00000099949|domain:BTB_1|ENST00000215739|protein_coding|13/21|c.1449+40G>T||||||,T|sequence_feature|LOW|LZTR1|ENSG00000099949|domain:BTB_1|ENST00000215739|protein_coding|12/21|c.1449+40G>T||||||,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.-1G>T|||||168|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.-1G>T|||||268|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.-1G>T|||||418|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.-2G>T|||||602|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.-1G>T|||||623|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.-1G>T|||||847|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.-1G>T|||||1030|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.-1G>T|||||1729|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.-2G>T|||||1937|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.*457G>T|||||2374|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.*355G>T|||||4384|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.*539G>T|||||2380|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.*1031G>T|||||1211|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.*413G>T|||||1527|,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|13/20|c.1449+40G>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|14/21|n.1595+40G>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|12/19|c.1392+40G>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron|5/5|n.498+40G>T|||||| 22 21348473 . C T . . ANN=T|synonymous_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|14/21|c.1530C>T|p.His510His|1889/4572|1530/2523|510/840||,T|synonymous_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|13/20|c.1473C>T|p.His491His|1514/2625|1473/2466|491/821||,T|sequence_feature|LOW|LZTR1|ENSG00000099949|domain:BTB_1|ENST00000215739|protein_coding|14/21|c.1530C>T||||||,T|sequence_feature|LOW|LZTR1|ENSG00000099949|domain:BTB_1|ENST00000215739|protein_coding|13/21|c.1530C>T||||||,T|sequence_feature|LOW|LZTR1|ENSG00000099949|domain:BTB_1|ENST00000215739|protein_coding|12/21|c.1530C>T||||||,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.-1C>T|||||43|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.-1C>T|||||143|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.-1C>T|||||293|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.-2C>T|||||477|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.-1C>T|||||498|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.-1C>T|||||722|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.-1C>T|||||905|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.-1C>T|||||1604|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.-2C>T|||||1812|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.*457C>T|||||2499|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.*355C>T|||||4509|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.*539C>T|||||2505|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.*1031C>T|||||1336|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.*413C>T|||||1652|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron||n.*1957G>A|||||4920|,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|15/22|n.1676C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron|6/6|n.579C>T|||||| 22 21348588 . G A . . ANN=A|splice_region_variant&non_coding_exon_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron|6/6|n.694G>A||||||,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.-1G>A|||||28|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.-1G>A|||||178|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.-2G>A|||||362|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.-1G>A|||||383|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.-1G>A|||||607|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.-1G>A|||||790|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.-1G>A|||||1489|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.-2G>A|||||1697|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.*457G>A|||||2614|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.*355G>A|||||4624|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.*539G>A|||||2620|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.*1031G>A|||||1451|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.*413G>A|||||1767|,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron||n.*1957C>T|||||4805|,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|14/20|c.1615+30G>A||||||,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|15/21|n.1761+30G>A||||||,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|13/19|c.1558+30G>A||||||,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay|1/5|n.43+30G>A|||||| 22 21348806 . C T . . ANN=T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.-2C>T|||||144|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.-1C>T|||||165|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.-1C>T|||||389|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.-1C>T|||||572|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.-1C>T|||||1271|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.-2C>T|||||1479|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.*457C>T|||||2832|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.*355C>T|||||4842|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.*539C>T|||||2838|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.*1031C>T|||||1669|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.*413C>T|||||1985|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron||n.*695C>T|||||217|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron||n.*1957G>A|||||4587|,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|14/20|c.1616-41C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|15/21|n.1762-41C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|13/19|c.1559-41C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay|1/5|n.44-157C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron|1/4|n.191C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron|1/4|n.41C>T|||||| 22 21348914 . C T . . ANN=T|synonymous_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|15/21|c.1683C>T|p.Arg561Arg|2042/4572|1683/2523|561/840||,T|synonymous_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|14/20|c.1626C>T|p.Arg542Arg|1667/2625|1626/2466|542/821||,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.-2C>T|||||36|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.-1C>T|||||57|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.-1C>T|||||281|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.-1C>T|||||464|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.-1C>T|||||1163|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.-2C>T|||||1371|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.*457C>T|||||2940|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.*355C>T|||||4950|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.*539C>T|||||2946|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.*1031C>T|||||1777|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.*413C>T|||||2093|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron||n.*695C>T|||||325|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron||n.*1957G>A|||||4479|,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay|1/5|n.44-49C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|16/22|n.1829C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron|1/4|n.299C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron|1/4|n.149C>T|||||| 22 21348954 . G A . . ANN=A|missense_variant|MODERATE|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|15/21|c.1723G>A|p.Asp575Asn|2082/4572|1723/2523|575/840||,A|missense_variant|MODERATE|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|14/20|c.1666G>A|p.Asp556Asn|1707/2625|1666/2466|556/821||,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.-1G>A|||||17|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.-1G>A|||||241|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.-1G>A|||||424|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.-1G>A|||||1123|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.-2G>A|||||1331|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.*457G>A|||||2980|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.*355G>A|||||4990|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.*539G>A|||||2986|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.*1031G>A|||||1817|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.*413G>A|||||2133|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron||n.*695G>A|||||365|,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron||n.*1957C>T|||||4439|,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay|1/5|n.44-9G>A||||||,A|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|16/22|n.1869G>A||||||,A|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron|1/4|n.339G>A||||||,A|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron|1/4|n.189G>A||||||,A|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay|1/6|n.4G>A|||||| 22 21349037 . A G . . ANN=G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.-1A>G|||||158|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.-1A>G|||||341|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.-1A>G|||||1040|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.-2A>G|||||1248|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.*457A>G|||||3063|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.*539A>G|||||3069|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.*1031A>G|||||1900|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.*413A>G|||||2216|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron||n.*695A>G|||||448|,G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron||n.*1957T>C|||||4356|,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|15/20|c.1785+21A>G||||||,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|16/21|n.1931+21A>G||||||,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|14/19|c.1728+21A>G||||||,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay|2/5|n.97+21A>G||||||,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron|1/3|n.401+21A>G||||||,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron|1/3|n.251+21A>G||||||,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay|1/5|n.66+21A>G||||||,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron|1/1|n.46+21A>G|||||| 22 21349151 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|15/20|c.1786-8T>C||||||,C|splice_region_variant&intron_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|16/21|n.1932-8T>C||||||,C|splice_region_variant&intron_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|14/19|c.1729-8T>C||||||,C|splice_region_variant&intron_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay|2/5|n.98-8T>C||||||,C|splice_region_variant&intron_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron|1/3|n.402-8T>C||||||,C|splice_region_variant&intron_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay|1/5|n.67-8T>C||||||,C|splice_region_variant&intron_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron|1/1|n.47-8T>C||||||,C|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.-1T>C|||||44|,C|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.-1T>C|||||227|,C|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.-1T>C|||||926|,C|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.-2T>C|||||1134|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding||c.*1105A>G|||||4910|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.*457T>C|||||3177|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.*539T>C|||||3183|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.*1031T>C|||||2014|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.*413T>C|||||2330|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron||n.*695T>C|||||562|,C|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron||n.*1957A>G|||||4242|,C|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron||n.*1809A>G|||||4911|,C|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding||c.*1041A>G|||||4915|,C|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron||n.*1671A>G|||||4940|,C|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron|1/3|n.252-53T>C|||||| 22 21349277 . C T . . ANN=T|missense_variant|MODERATE|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|16/21|c.1904C>T|p.Pro635Leu|2263/4572|1904/2523|635/840||,T|missense_variant|MODERATE|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|15/20|c.1847C>T|p.Pro616Leu|1888/2625|1847/2466|616/821||,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.-1C>T|||||101|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.-1C>T|||||800|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.-2C>T|||||1008|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding||c.*1105G>A|||||4784|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.*457C>T|||||3303|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.*539C>T|||||3309|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.*1031C>T|||||2140|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.*413C>T|||||2456|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron||n.*695C>T|||||688|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron||n.*1957G>A|||||4116|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron||n.*1809G>A|||||4785|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding||c.*1041G>A|||||4789|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron||n.*1671G>A|||||4814|,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|17/22|n.2050C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay|3/6|n.216C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron|2/4|n.520C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron|2/4|n.325C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay|2/6|n.185C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron|2/2|n.165C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay|1/6|n.83C>T|||||| 22 21349280 . C T . . ANN=T|missense_variant|MODERATE|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|16/21|c.1907C>T|p.Pro636Leu|2266/4572|1907/2523|636/840||,T|missense_variant|MODERATE|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|15/20|c.1850C>T|p.Pro617Leu|1891/2625|1850/2466|617/821||,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.-1C>T|||||98|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.-1C>T|||||797|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.-2C>T|||||1005|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding||c.*1105G>A|||||4781|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.*457C>T|||||3306|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.*539C>T|||||3312|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.*1031C>T|||||2143|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.*413C>T|||||2459|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron||n.*695C>T|||||691|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron||n.*1957G>A|||||4113|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron||n.*1809G>A|||||4782|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding||c.*1041G>A|||||4786|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron||n.*1671G>A|||||4811|,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|17/22|n.2053C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay|3/6|n.219C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron|2/4|n.523C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron|2/4|n.328C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay|2/6|n.188C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron|2/2|n.168C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay|1/6|n.86C>T|||||| 22 21349312 . A G . . ANN=G|missense_variant|MODERATE|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|16/21|c.1939A>G|p.Ile647Val|2298/4572|1939/2523|647/840||,G|missense_variant|MODERATE|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|15/20|c.1882A>G|p.Ile628Val|1923/2625|1882/2466|628/821||,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.-1A>G|||||66|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.-1A>G|||||765|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.-2A>G|||||973|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding||c.*1105T>C|||||4749|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.*457A>G|||||3338|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.*539A>G|||||3344|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.*1031A>G|||||2175|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.*413A>G|||||2491|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron||n.*695A>G|||||723|,G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron||n.*1957T>C|||||4081|,G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron||n.*1809T>C|||||4750|,G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding||c.*1041T>C|||||4754|,G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron||n.*1671T>C|||||4779|,G|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|17/22|n.2085A>G||||||,G|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay|3/6|n.251A>G||||||,G|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron|2/4|n.555A>G||||||,G|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron|2/4|n.360A>G||||||,G|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay|2/6|n.220A>G||||||,G|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron|2/2|n.200A>G||||||,G|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay|1/6|n.118A>G|||||| 22 21349987 . A G . . ANN=G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.-1A>G|||||90|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.-2A>G|||||298|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding||c.*1105T>C|||||4074|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.*457A>G|||||4013|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.*539A>G|||||4019|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.*1031A>G|||||2850|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.*413A>G|||||3166|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron||n.*695A>G|||||1398|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.*566A>G|||||309|,G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron||n.*1957T>C|||||3406|,G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron||n.*1809T>C|||||4075|,G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding||c.*1041T>C|||||4079|,G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron||n.*1671T>C|||||4104|,G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron||n.*1080T>C|||||4532|,G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron||n.*507T>C|||||4574|,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|16/20|c.1943-48A>G||||||,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|17/21|n.2089-48A>G||||||,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|15/19|c.1886-48A>G||||||,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay|4/5|n.*78-48A>G||||||,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron|2/3|n.559-48A>G||||||,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron|2/3|n.364-48A>G||||||,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay|3/5|n.*8-48A>G||||||,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay|1/5|n.122-65A>G||||||,G|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron|1/4|n.610A>G|||||| 22 21350008 . C T . . ANN=T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.-1C>T|||||69|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.-2C>T|||||277|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding||c.*1105G>A|||||4053|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.*457C>T|||||4034|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.*539C>T|||||4040|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.*1031C>T|||||2871|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.*413C>T|||||3187|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron||n.*695C>T|||||1419|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.*566C>T|||||330|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron||n.*1957G>A|||||3385|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron||n.*1809G>A|||||4054|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding||c.*1041G>A|||||4058|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron||n.*1671G>A|||||4083|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron||n.*1080G>A|||||4511|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron||n.*507G>A|||||4553|,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|16/20|c.1943-27C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|17/21|n.2089-27C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|15/19|c.1886-27C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay|4/5|n.*78-27C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron|2/3|n.559-27C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron|2/3|n.364-27C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay|3/5|n.*8-27C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay|1/5|n.122-44C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron|1/4|n.631C>T|||||| 22 21350054 . C T . . ANN=T|splice_region_variant&non_coding_exon_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay|2/6|n.124C>T||||||,T|synonymous_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|17/21|c.1962C>T|p.Asp654Asp|2321/4572|1962/2523|654/840||,T|synonymous_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|16/20|c.1905C>T|p.Asp635Asp|1946/2625|1905/2466|635/821||,T|3_prime_UTR_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay|5/6|n.*97C>T|||||358|,T|3_prime_UTR_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay|4/6|n.*27C>T|||||288|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.-1C>T|||||23|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.-2C>T|||||231|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding||c.*1105G>A|||||4007|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.*457C>T|||||4080|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.*539C>T|||||4086|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.*1031C>T|||||2917|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.*413C>T|||||3233|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron||n.*695C>T|||||1465|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.*566C>T|||||376|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron||n.*1957G>A|||||3339|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron||n.*1809G>A|||||4008|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding||c.*1041G>A|||||4012|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron||n.*1671G>A|||||4037|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron||n.*1080G>A|||||4465|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron||n.*507G>A|||||4507|,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|18/22|n.2108C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay|5/6|n.*97C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron|3/4|n.578C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron|3/4|n.383C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay|4/6|n.*27C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron|1/4|n.677C>T|||||| 22 21350099 . C T . . ANN=T|synonymous_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|17/21|c.2007C>T|p.Ile669Ile|2366/4572|2007/2523|669/840||,T|synonymous_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|16/20|c.1950C>T|p.Ile650Ile|1991/2625|1950/2466|650/821||,T|sequence_feature|LOW|LZTR1|ENSG00000099949|domain:BTB_2|ENST00000215739|protein_coding|18/21|c.2007C>T||||||,T|sequence_feature|LOW|LZTR1|ENSG00000099949|domain:BTB_2|ENST00000215739|protein_coding|17/21|c.2007C>T||||||,T|3_prime_UTR_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay|5/6|n.*142C>T|||||403|,T|3_prime_UTR_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay|4/6|n.*72C>T|||||333|,T|3_prime_UTR_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay|2/6|n.*4C>T|||||4|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.-2C>T|||||186|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding||c.*1105G>A|||||3962|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.*457C>T|||||4125|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.*539C>T|||||4131|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.*1031C>T|||||2962|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.*413C>T|||||3278|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron||n.*695C>T|||||1510|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.*566C>T|||||421|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron||n.*1957G>A|||||3294|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron||n.*1809G>A|||||3963|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding||c.*1041G>A|||||3967|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron||n.*1671G>A|||||3992|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron||n.*1080G>A|||||4420|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron||n.*507G>A|||||4462|,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|18/22|n.2153C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay|5/6|n.*142C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron|3/4|n.623C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron|3/4|n.428C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay|4/6|n.*72C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay|2/6|n.*4C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron|1/4|n.722C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron|1/4|n.23C>T|||||| 22 21350114 . C T . . ANN=T|synonymous_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|17/21|c.2022C>T|p.Asp674Asp|2381/4572|2022/2523|674/840||,T|synonymous_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|16/20|c.1965C>T|p.Asp655Asp|2006/2625|1965/2466|655/821||,T|sequence_feature|LOW|LZTR1|ENSG00000099949|domain:BTB_2|ENST00000215739|protein_coding|18/21|c.2022C>T||||||,T|sequence_feature|LOW|LZTR1|ENSG00000099949|domain:BTB_2|ENST00000215739|protein_coding|17/21|c.2022C>T||||||,T|3_prime_UTR_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay|5/6|n.*157C>T|||||418|,T|3_prime_UTR_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay|4/6|n.*87C>T|||||348|,T|3_prime_UTR_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay|2/6|n.*19C>T|||||19|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.-2C>T|||||171|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding||c.*1105G>A|||||3947|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.*457C>T|||||4140|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.*539C>T|||||4146|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.*1031C>T|||||2977|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.*413C>T|||||3293|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron||n.*695C>T|||||1525|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.*566C>T|||||436|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron||n.*1957G>A|||||3279|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron||n.*1809G>A|||||3948|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding||c.*1041G>A|||||3952|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron||n.*1671G>A|||||3977|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron||n.*1080G>A|||||4405|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron||n.*507G>A|||||4447|,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|18/22|n.2168C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay|5/6|n.*157C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron|3/4|n.638C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron|3/4|n.443C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay|4/6|n.*87C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay|2/6|n.*19C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron|1/4|n.737C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron|1/4|n.38C>T|||||| 22 21350162 . G C . . ANN=C|splice_donor_variant&intron_variant|HIGH|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|17/20|c.2069+1G>C||||||,C|splice_donor_variant&intron_variant|HIGH|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|18/21|n.2215+1G>C||||||,C|splice_donor_variant&intron_variant|HIGH|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|16/19|c.2012+1G>C||||||,C|splice_donor_variant&intron_variant|HIGH|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay|5/5|n.*204+1G>C||||||,C|splice_donor_variant&intron_variant|HIGH|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron|3/3|n.685+1G>C||||||,C|splice_donor_variant&intron_variant|HIGH|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron|3/3|n.490+1G>C||||||,C|splice_donor_variant&intron_variant|HIGH|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay|4/5|n.*134+1G>C||||||,C|splice_donor_variant&intron_variant|HIGH|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay|2/5|n.*66+1G>C||||||,C|splice_donor_variant&intron_variant|HIGH|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron|1/3|n.784+1G>C||||||,C|splice_donor_variant&intron_variant|HIGH|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron|1/3|n.85+1G>C||||||,C|sequence_feature|LOW|LZTR1|ENSG00000099949|domain:BTB_2|ENST00000215739|protein_coding|18/21|c.2069+1G>C||||||,C|sequence_feature|LOW|LZTR1|ENSG00000099949|domain:BTB_2|ENST00000215739|protein_coding|17/21|c.2069+1G>C||||||,C|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.-2G>C|||||123|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding||c.*1105C>G|||||3899|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.*457G>C|||||4188|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.*539G>C|||||4194|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.*1031G>C|||||3025|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.*413G>C|||||3341|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron||n.*695G>C|||||1573|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.*566G>C|||||484|,C|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron||n.*1957C>G|||||3231|,C|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron||n.*1809C>G|||||3900|,C|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding||c.*1041C>G|||||3904|,C|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron||n.*1671C>G|||||3929|,C|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron||n.*1080C>G|||||4357|,C|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron||n.*507C>G|||||4399|;LOF=(LZTR1|ENSG00000099949|19|0.11) 22 21350285 . C A,G,T . . ANN=A|splice_region_variant&non_coding_exon_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron|4/4|n.719C>A||||||,G|splice_region_variant&non_coding_exon_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron|4/4|n.719C>G||||||,T|splice_region_variant&non_coding_exon_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron|4/4|n.719C>T||||||,A|synonymous_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|18/21|c.2103C>A|p.Pro701Pro|2462/4572|2103/2523|701/840||,G|synonymous_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|18/21|c.2103C>G|p.Pro701Pro|2462/4572|2103/2523|701/840||,T|synonymous_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|18/21|c.2103C>T|p.Pro701Pro|2462/4572|2103/2523|701/840||,A|synonymous_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|17/20|c.2046C>A|p.Pro682Pro|2087/2625|2046/2466|682/821||,G|synonymous_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|17/20|c.2046C>G|p.Pro682Pro|2087/2625|2046/2466|682/821||,T|synonymous_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|17/20|c.2046C>T|p.Pro682Pro|2087/2625|2046/2466|682/821||,A|sequence_feature|LOW|LZTR1|ENSG00000099949|domain:BTB_2|ENST00000215739|protein_coding|18/21|c.2103C>A||||||,A|sequence_feature|LOW|LZTR1|ENSG00000099949|domain:BTB_2|ENST00000215739|protein_coding|17/21|c.2103C>A||||||,G|sequence_feature|LOW|LZTR1|ENSG00000099949|domain:BTB_2|ENST00000215739|protein_coding|18/21|c.2103C>G||||||,G|sequence_feature|LOW|LZTR1|ENSG00000099949|domain:BTB_2|ENST00000215739|protein_coding|17/21|c.2103C>G||||||,T|sequence_feature|LOW|LZTR1|ENSG00000099949|domain:BTB_2|ENST00000215739|protein_coding|18/21|c.2103C>T||||||,T|sequence_feature|LOW|LZTR1|ENSG00000099949|domain:BTB_2|ENST00000215739|protein_coding|17/21|c.2103C>T||||||,A|5_prime_UTR_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding|1/3|c.-1C>A|||||1|WARNING_TRANSCRIPT_NO_START_CODON,G|5_prime_UTR_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding|1/3|c.-1C>G|||||1|WARNING_TRANSCRIPT_NO_START_CODON,T|5_prime_UTR_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding|1/3|c.-1C>T|||||1|WARNING_TRANSCRIPT_NO_START_CODON,A|3_prime_UTR_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay|6/6|n.*238C>A|||||589|,G|3_prime_UTR_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay|6/6|n.*238C>G|||||589|,T|3_prime_UTR_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay|6/6|n.*238C>T|||||589|,A|3_prime_UTR_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay|5/6|n.*168C>A|||||519|,G|3_prime_UTR_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay|5/6|n.*168C>G|||||519|,T|3_prime_UTR_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay|5/6|n.*168C>T|||||519|,A|3_prime_UTR_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay|3/6|n.*100C>A|||||190|,G|3_prime_UTR_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay|3/6|n.*100C>G|||||190|,T|3_prime_UTR_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay|3/6|n.*100C>T|||||190|,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding||c.*1105G>T|||||3776|,G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding||c.*1105G>C|||||3776|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding||c.*1105G>A|||||3776|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.*457C>A|||||4311|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.*457C>G|||||4311|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.*457C>T|||||4311|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.*539C>A|||||4317|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.*539C>G|||||4317|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.*539C>T|||||4317|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.*1031C>A|||||3148|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.*1031C>G|||||3148|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.*1031C>T|||||3148|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.*413C>A|||||3464|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.*413C>G|||||3464|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.*413C>T|||||3464|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron||n.*695C>A|||||1696|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron||n.*695C>G|||||1696|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron||n.*695C>T|||||1696|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.*566C>A|||||607|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.*566C>G|||||607|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.*566C>T|||||607|,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron||n.*1957G>T|||||3108|,G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron||n.*1957G>C|||||3108|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron||n.*1957G>A|||||3108|,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron||n.*1809G>T|||||3777|,G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron||n.*1809G>C|||||3777|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron||n.*1809G>A|||||3777|,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding||c.*1041G>T|||||3781|,G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding||c.*1041G>C|||||3781|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding||c.*1041G>A|||||3781|,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron||n.*1671G>T|||||3806|,G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron||n.*1671G>C|||||3806|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron||n.*1671G>A|||||3806|,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron||n.*1080G>T|||||4234|,G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron||n.*1080G>C|||||4234|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron||n.*1080G>A|||||4234|,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron||n.*507G>T|||||4276|,G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron||n.*507G>C|||||4276|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron||n.*507G>A|||||4276|,A|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|19/22|n.2249C>A||||||,G|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|19/22|n.2249C>G||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|19/22|n.2249C>T||||||,A|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay|6/6|n.*238C>A||||||,G|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay|6/6|n.*238C>G||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay|6/6|n.*238C>T||||||,A|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron|4/4|n.524C>A||||||,G|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron|4/4|n.524C>G||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron|4/4|n.524C>T||||||,A|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay|5/6|n.*168C>A||||||,G|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay|5/6|n.*168C>G||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay|5/6|n.*168C>T||||||,A|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay|3/6|n.*100C>A||||||,G|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay|3/6|n.*100C>G||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay|3/6|n.*100C>T||||||,A|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron|2/4|n.818C>A||||||,G|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron|2/4|n.818C>G||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron|2/4|n.818C>T||||||,A|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron|2/4|n.119C>A||||||,G|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron|2/4|n.119C>G||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron|2/4|n.119C>T|||||| 22 21350342 . C T . . ANN=T|synonymous_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|18/21|c.2160C>T|p.Phe720Phe|2519/4572|2160/2523|720/840||,T|synonymous_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|17/20|c.2103C>T|p.Phe701Phe|2144/2625|2103/2466|701/821||,T|synonymous_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding|1/3|c.57C>T|p.Phe19Phe|58/2323|57/474|19/157||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|LZTR1|ENSG00000099949|domain:BTB_2|ENST00000215739|protein_coding|18/21|c.2160C>T||||||,T|sequence_feature|LOW|LZTR1|ENSG00000099949|domain:BTB_2|ENST00000215739|protein_coding|17/21|c.2160C>T||||||,T|3_prime_UTR_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay|6/6|n.*295C>T|||||646|,T|3_prime_UTR_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay|5/6|n.*225C>T|||||576|,T|3_prime_UTR_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay|3/6|n.*157C>T|||||247|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding||c.*1105G>A|||||3719|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.*457C>T|||||4368|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.*539C>T|||||4374|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.*1031C>T|||||3205|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.*413C>T|||||3521|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron||n.*695C>T|||||1753|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.*720C>T|||||56|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.*527C>T|||||54|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.*566C>T|||||664|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron||n.*1957G>A|||||3051|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron||n.*1809G>A|||||3720|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding||c.*1041G>A|||||3724|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron||n.*1671G>A|||||3749|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron||n.*1080G>A|||||4177|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron||n.*507G>A|||||4219|,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|19/22|n.2306C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay|6/6|n.*295C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay|5/6|n.*225C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay|3/6|n.*157C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron|2/4|n.875C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron|2/4|n.176C>T|||||| 22 21350369 . C T . . ANN=T|synonymous_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|18/21|c.2187C>T|p.Tyr729Tyr|2546/4572|2187/2523|729/840||,T|synonymous_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|17/20|c.2130C>T|p.Tyr710Tyr|2171/2625|2130/2466|710/821||,T|synonymous_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding|1/3|c.84C>T|p.Tyr28Tyr|85/2323|84/474|28/157||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|LZTR1|ENSG00000099949|domain:BTB_2|ENST00000215739|protein_coding|18/21|c.2187C>T||||||,T|sequence_feature|LOW|LZTR1|ENSG00000099949|domain:BTB_2|ENST00000215739|protein_coding|17/21|c.2187C>T||||||,T|3_prime_UTR_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay|6/6|n.*322C>T|||||673|,T|3_prime_UTR_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay|5/6|n.*252C>T|||||603|,T|3_prime_UTR_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay|3/6|n.*184C>T|||||274|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding||c.*1105G>A|||||3692|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.*457C>T|||||4395|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.*539C>T|||||4401|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.*1031C>T|||||3232|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.*413C>T|||||3548|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron||n.*695C>T|||||1780|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.*720C>T|||||83|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.*527C>T|||||81|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.*566C>T|||||691|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron||n.*1957G>A|||||3024|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron||n.*1809G>A|||||3693|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding||c.*1041G>A|||||3697|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron||n.*1671G>A|||||3722|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron||n.*1080G>A|||||4150|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron||n.*507G>A|||||4192|,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|19/22|n.2333C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay|6/6|n.*322C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay|5/6|n.*252C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay|3/6|n.*184C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron|2/4|n.902C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron|2/4|n.203C>T|||||| 22 21350370 . G A . . ANN=A|missense_variant|MODERATE|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|18/21|c.2188G>A|p.Gly730Ser|2547/4572|2188/2523|730/840||,A|missense_variant|MODERATE|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|17/20|c.2131G>A|p.Gly711Ser|2172/2625|2131/2466|711/821||,A|missense_variant|MODERATE|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding|1/3|c.85G>A|p.Gly29Ser|86/2323|85/474|29/157||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|LZTR1|ENSG00000099949|domain:BTB_2|ENST00000215739|protein_coding|18/21|c.2188G>A||||||,A|sequence_feature|LOW|LZTR1|ENSG00000099949|domain:BTB_2|ENST00000215739|protein_coding|17/21|c.2188G>A||||||,A|3_prime_UTR_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay|6/6|n.*323G>A|||||674|,A|3_prime_UTR_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay|5/6|n.*253G>A|||||604|,A|3_prime_UTR_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay|3/6|n.*185G>A|||||275|,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding||c.*1105C>T|||||3691|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.*457G>A|||||4396|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.*539G>A|||||4402|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.*1031G>A|||||3233|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.*413G>A|||||3549|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron||n.*695G>A|||||1781|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.*720G>A|||||84|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.*527G>A|||||82|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.*566G>A|||||692|,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron||n.*1957C>T|||||3023|,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron||n.*1809C>T|||||3692|,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding||c.*1041C>T|||||3696|,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron||n.*1671C>T|||||3721|,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron||n.*1080C>T|||||4149|,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron||n.*507C>T|||||4191|,A|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|19/22|n.2334G>A||||||,A|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay|6/6|n.*323G>A||||||,A|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay|5/6|n.*253G>A||||||,A|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay|3/6|n.*185G>A||||||,A|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron|2/4|n.903G>A||||||,A|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron|2/4|n.204G>A|||||| 22 21350414 . C T . . ANN=T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding||c.*1105G>A|||||3647|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.*457C>T|||||4440|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.*539C>T|||||4446|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.*1031C>T|||||3277|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.*413C>T|||||3593|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron||n.*695C>T|||||1825|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.*294C>T|||||13|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.*720C>T|||||128|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.*527C>T|||||126|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.*566C>T|||||736|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron||n.*1957G>A|||||2979|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron||n.*1809G>A|||||3648|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding||c.*1041G>A|||||3652|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron||n.*1671G>A|||||3677|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron||n.*1080G>A|||||4105|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron||n.*507G>A|||||4147|,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|18/20|c.2219+13C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|19/21|n.2365+13C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|17/19|c.2162+13C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay|5/5|n.*284+13C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay|3/5|n.*216+13C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron|2/3|n.235+13C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding|1/2|c.116+13C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron|2/4|n.947C>T|||||| 22 21350936 . G A . . ANN=A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding||c.*1105C>T|||||3125|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.*457G>A|||||4962|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.*539G>A|||||4968|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.*1031G>A|||||3799|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.*413G>A|||||4115|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron||n.*695G>A|||||2347|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.*294G>A|||||535|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.*720G>A|||||650|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.*527G>A|||||648|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.*566G>A|||||1258|,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron||n.*1957C>T|||||2457|,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron||n.*1809C>T|||||3126|,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding||c.*1041C>T|||||3130|,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron||n.*1671C>T|||||3155|,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron||n.*1080C>T|||||3583|,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron||n.*507C>T|||||3625|,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471723|retained_intron||n.*653C>T|||||4645|,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|18/20|c.2220-49G>A||||||,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|19/21|n.2366-49G>A||||||,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|17/19|c.2163-49G>A||||||,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay|5/5|n.*285-49G>A||||||,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay|3/5|n.*217-49G>A||||||,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron|2/3|n.236-49G>A||||||,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding|1/2|c.117-49G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron|2/4|n.1469G>A|||||| 22 21350947 . A G . . ANN=G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding||c.*1105T>C|||||3114|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.*457A>G|||||4973|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.*539A>G|||||4979|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.*1031A>G|||||3810|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.*413A>G|||||4126|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron||n.*695A>G|||||2358|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.*294A>G|||||546|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.*720A>G|||||661|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.*527A>G|||||659|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.*566A>G|||||1269|,G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron||n.*1957T>C|||||2446|,G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron||n.*1809T>C|||||3115|,G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding||c.*1041T>C|||||3119|,G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron||n.*1671T>C|||||3144|,G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron||n.*1080T>C|||||3572|,G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron||n.*507T>C|||||3614|,G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471723|retained_intron||n.*653T>C|||||4634|,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|18/20|c.2220-38A>G||||||,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|19/21|n.2366-38A>G||||||,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|17/19|c.2163-38A>G||||||,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay|5/5|n.*285-38A>G||||||,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay|3/5|n.*217-38A>G||||||,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron|2/3|n.236-38A>G||||||,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding|1/2|c.117-38A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,G|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron|2/4|n.1480A>G|||||| 22 21350974 . C G . . ANN=G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding||c.*1105G>C|||||3087|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.*457C>G|||||5000|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.*1031C>G|||||3837|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.*413C>G|||||4153|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron||n.*695C>G|||||2385|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.*294C>G|||||573|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.*720C>G|||||688|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.*527C>G|||||686|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.*566C>G|||||1296|,G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron||n.*1957G>C|||||2419|,G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron||n.*1809G>C|||||3088|,G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding||c.*1041G>C|||||3092|,G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron||n.*1671G>C|||||3117|,G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron||n.*1080G>C|||||3545|,G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron||n.*507G>C|||||3587|,G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471723|retained_intron||n.*653G>C|||||4607|,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|18/20|c.2220-11C>G||||||,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|19/21|n.2366-11C>G||||||,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|17/19|c.2163-11C>G||||||,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay|5/5|n.*285-11C>G||||||,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay|3/5|n.*217-11C>G||||||,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron|2/3|n.236-11C>G||||||,G|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding|1/2|c.117-11C>G||||||WARNING_TRANSCRIPT_NO_START_CODON,G|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron|2/4|n.1507C>G|||||| 22 21351137 . G A . . ANN=A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding||c.*1105C>T|||||2924|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.*1031G>A|||||4000|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.*413G>A|||||4316|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron||n.*695G>A|||||2548|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.*294G>A|||||736|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.*720G>A|||||851|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.*527G>A|||||849|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.*334G>A|||||136|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.*566G>A|||||1459|,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron||n.*1957C>T|||||2256|,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron||n.*1809C>T|||||2925|,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding||c.*1041C>T|||||2929|,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron||n.*1671C>T|||||2954|,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron||n.*1080C>T|||||3382|,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron||n.*507C>T|||||3424|,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471723|retained_intron||n.*653C>T|||||4444|,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|19/20|c.2326-38G>A||||||,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|20/21|n.2472-38G>A||||||,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|18/19|c.2269-38G>A||||||,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay|4/5|n.*323-38G>A||||||,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron|2/3|n.1624-38G>A||||||,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding|2/2|c.223-38G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron|3/4|n.388G>A|||||| 22 21351169 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|19/20|c.2326-6T>C||||||,C|splice_region_variant&intron_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|20/21|n.2472-6T>C||||||,C|splice_region_variant&intron_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|18/19|c.2269-6T>C||||||,C|splice_region_variant&intron_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay|4/5|n.*323-6T>C||||||,C|splice_region_variant&intron_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron|2/3|n.1624-6T>C||||||,C|splice_region_variant&intron_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding|2/2|c.223-6T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding||c.*1105A>G|||||2892|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.*1031T>C|||||4032|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.*413T>C|||||4348|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron||n.*695T>C|||||2580|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.*294T>C|||||768|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.*720T>C|||||883|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.*527T>C|||||881|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.*334T>C|||||168|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.*566T>C|||||1491|,C|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron||n.*1957A>G|||||2224|,C|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron||n.*1809A>G|||||2893|,C|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding||c.*1041A>G|||||2897|,C|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron||n.*1671A>G|||||2922|,C|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron||n.*1080A>G|||||3350|,C|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron||n.*507A>G|||||3392|,C|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471723|retained_intron||n.*653A>G|||||4412|,C|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron|3/4|n.420T>C|||||| 22 21351222 . C T . . ANN=T|synonymous_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|20/21|c.2373C>T|p.His791His|2732/4572|2373/2523|791/840||,T|synonymous_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|19/20|c.2316C>T|p.His772His|2357/2625|2316/2466|772/821||,T|synonymous_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding|3/3|c.270C>T|p.His90His|271/2323|270/474|90/157||WARNING_TRANSCRIPT_NO_START_CODON,T|3_prime_UTR_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay|5/6|n.*370C>T|||||1127|,T|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000436079|antisense||n.-1C>T|||||4953|,T|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000429962|antisense||n.-1C>T|||||4989|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding||c.*1105G>A|||||2839|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.*1031C>T|||||4085|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.*413C>T|||||4401|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron||n.*695C>T|||||2633|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.*294C>T|||||821|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.*720C>T|||||936|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.*527C>T|||||934|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.*334C>T|||||221|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.*566C>T|||||1544|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron||n.*1957G>A|||||2171|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron||n.*1809G>A|||||2840|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding||c.*1041G>A|||||2844|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron||n.*1671G>A|||||2869|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron||n.*1080G>A|||||3297|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron||n.*507G>A|||||3339|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471723|retained_intron||n.*653G>A|||||4359|,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|21/22|n.2519C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay|5/6|n.*370C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron|3/4|n.1671C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron|3/4|n.473C>T|||||| 22 21351502 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding|3/3|c.*76C>T|||||76|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000452284|antisense||n.-1C>T|||||4995|,T|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000436079|antisense||n.-1C>T|||||4673|,T|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000429962|antisense||n.-1C>T|||||4709|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding||c.*1105G>A|||||2559|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.*1031C>T|||||4365|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.*413C>T|||||4681|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron||n.*695C>T|||||2913|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.*294C>T|||||1101|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.*720C>T|||||1216|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.*527C>T|||||1214|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.*334C>T|||||501|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.*566C>T|||||1824|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron||n.*1957G>A|||||1891|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron||n.*1809G>A|||||2560|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding||c.*1041G>A|||||2564|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron||n.*1671G>A|||||2589|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron||n.*1080G>A|||||3017|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron||n.*507G>A|||||3059|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471723|retained_intron||n.*653G>A|||||4079|,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|20/20|c.2407-19C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|21/21|n.2553-19C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|19/19|c.2350-19C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay|5/5|n.*404-19C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron|3/3|n.1705-19C>T||||||,T|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron|3/3|n.507-19C>T|||||| 22 21351625 . C T . . ANN=T|synonymous_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|21/21|c.2511C>T|p.Gly837Gly|2870/4572|2511/2523|837/840||,T|synonymous_variant|LOW|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|20/20|c.2454C>T|p.Gly818Gly|2495/2625|2454/2466|818/821||,T|3_prime_UTR_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay|6/6|n.*508C>T|||||1530|,T|3_prime_UTR_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding|3/3|c.*199C>T|||||199|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000452284|antisense||n.-1C>T|||||4872|,T|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000436079|antisense||n.-1C>T|||||4550|,T|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000429962|antisense||n.-1C>T|||||4586|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding||c.*1105G>A|||||2436|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.*1031C>T|||||4488|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.*413C>T|||||4804|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron||n.*695C>T|||||3036|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.*294C>T|||||1224|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.*720C>T|||||1339|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.*527C>T|||||1337|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.*334C>T|||||624|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.*566C>T|||||1947|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron||n.*1957G>A|||||1768|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron||n.*1809G>A|||||2437|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding||c.*1041G>A|||||2441|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron||n.*1671G>A|||||2466|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron||n.*1080G>A|||||2894|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron||n.*507G>A|||||2936|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471723|retained_intron||n.*653G>A|||||3956|,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|22/22|n.2657C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay|6/6|n.*508C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron|4/4|n.1809C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron|4/4|n.611C>T|||||| 22 21351657 . A G . . ANN=G|3_prime_UTR_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|21/21|c.*20A>G|||||20|,G|3_prime_UTR_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|20/20|c.*20A>G|||||20|,G|3_prime_UTR_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay|6/6|n.*540A>G|||||1562|,G|3_prime_UTR_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding|3/3|c.*231A>G|||||231|WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000452284|antisense||n.-1A>G|||||4840|,G|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000436079|antisense||n.-1A>G|||||4518|,G|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000429962|antisense||n.-1A>G|||||4554|,G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding||c.*1105T>C|||||2404|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.*1031A>G|||||4520|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.*413A>G|||||4836|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron||n.*695A>G|||||3068|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.*294A>G|||||1256|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.*720A>G|||||1371|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.*527A>G|||||1369|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.*334A>G|||||656|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.*566A>G|||||1979|,G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron||n.*1957T>C|||||1736|,G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron||n.*1809T>C|||||2405|,G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding||c.*1041T>C|||||2409|,G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron||n.*1671T>C|||||2434|,G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron||n.*1080T>C|||||2862|,G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron||n.*507T>C|||||2904|,G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471723|retained_intron||n.*653T>C|||||3924|,G|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|22/22|n.2689A>G||||||,G|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay|6/6|n.*540A>G||||||,G|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron|4/4|n.1841A>G||||||,G|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron|4/4|n.643A>G|||||| 22 21351679 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|21/21|c.*42G>A|||||42|,A|3_prime_UTR_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|20/20|c.*42G>A|||||42|,A|3_prime_UTR_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay|6/6|n.*562G>A|||||1584|,A|3_prime_UTR_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding|3/3|c.*253G>A|||||253|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000452284|antisense||n.-1G>A|||||4818|,A|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000436079|antisense||n.-1G>A|||||4496|,A|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000429962|antisense||n.-1G>A|||||4532|,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding||c.*1105C>T|||||2382|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.*1031G>A|||||4542|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.*413G>A|||||4858|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron||n.*695G>A|||||3090|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.*294G>A|||||1278|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.*720G>A|||||1393|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.*527G>A|||||1391|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.*334G>A|||||678|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.*566G>A|||||2001|,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron||n.*1957C>T|||||1714|,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron||n.*1809C>T|||||2383|,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding||c.*1041C>T|||||2387|,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron||n.*1671C>T|||||2412|,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron||n.*1080C>T|||||2840|,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron||n.*507C>T|||||2882|,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471723|retained_intron||n.*653C>T|||||3902|,A|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|22/22|n.2711G>A||||||,A|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay|6/6|n.*562G>A||||||,A|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron|4/4|n.1863G>A||||||,A|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron|4/4|n.665G>A|||||| 22 21354151 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding|4/4|c.*18C>T|||||18|,A|3_prime_UTR_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding|5/5|c.*18C>T|||||18|,A|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000452284|antisense||n.-1G>A|||||2346|,A|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000436079|antisense||n.-1G>A|||||2024|,A|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000429962|antisense||n.-1G>A|||||2060|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.*2882G>A|||||824|,A|downstream_gene_variant|MODIFIER|AC002472.1|ENSG00000269103|transcript|ENST00000547793|protein_coding||c.*192C>T|||||3879|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.*3442G>A|||||1741|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.*2507G>A|||||2396|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.*294G>A|||||3750|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.*720G>A|||||3865|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.*527G>A|||||3863|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.*334G>A|||||3150|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.*566G>A|||||4473|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.*165G>A|||||2321|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.*3505G>A|||||830|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.*1044G>A|||||2093|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.*475G>A|||||877|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron||n.*1080C>T|||||368|,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron||n.*507C>T|||||410|,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471723|retained_intron||n.*653C>T|||||1430|,A|downstream_gene_variant|MODIFIER|TUBA3FP|ENSG00000161149|transcript|ENST00000442739|transcribed_unprocessed_pseudogene||n.*958C>T|||||3033|,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron|3/3|n.1199C>T||||||,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron|2/2|n.1720C>T||||||,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron|3/3|n.1611C>T|||||| 22 21354152 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding|4/4|c.*17C>T|||||17|,A|3_prime_UTR_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding|5/5|c.*17C>T|||||17|,A|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000452284|antisense||n.-1G>A|||||2345|,A|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000436079|antisense||n.-1G>A|||||2023|,A|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000429962|antisense||n.-1G>A|||||2059|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.*2882G>A|||||825|,A|downstream_gene_variant|MODIFIER|AC002472.1|ENSG00000269103|transcript|ENST00000547793|protein_coding||c.*192C>T|||||3878|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.*3442G>A|||||1742|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.*2507G>A|||||2397|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.*294G>A|||||3751|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.*720G>A|||||3866|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.*527G>A|||||3864|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.*334G>A|||||3151|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.*566G>A|||||4474|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.*165G>A|||||2322|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.*3505G>A|||||831|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.*1044G>A|||||2094|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.*475G>A|||||878|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron||n.*1080C>T|||||367|,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron||n.*507C>T|||||409|,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471723|retained_intron||n.*653C>T|||||1429|,A|downstream_gene_variant|MODIFIER|TUBA3FP|ENSG00000161149|transcript|ENST00000442739|transcribed_unprocessed_pseudogene||n.*958C>T|||||3032|,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron|3/3|n.1198C>T||||||,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron|2/2|n.1719C>T||||||,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron|3/3|n.1610C>T|||||| 22 21354158 . C G . . ANN=G|3_prime_UTR_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding|4/4|c.*11G>C|||||11|,G|3_prime_UTR_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding|5/5|c.*11G>C|||||11|,G|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000452284|antisense||n.-1C>G|||||2339|,G|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000436079|antisense||n.-1C>G|||||2017|,G|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000429962|antisense||n.-1C>G|||||2053|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.*2882C>G|||||831|,G|downstream_gene_variant|MODIFIER|AC002472.1|ENSG00000269103|transcript|ENST00000547793|protein_coding||c.*192G>C|||||3872|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.*3442C>G|||||1748|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.*2507C>G|||||2403|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.*294C>G|||||3757|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.*720C>G|||||3872|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.*527C>G|||||3870|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.*334C>G|||||3157|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.*566C>G|||||4480|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.*165C>G|||||2328|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.*3505C>G|||||837|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.*1044C>G|||||2100|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.*475C>G|||||884|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron||n.*1080G>C|||||361|,G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron||n.*507G>C|||||403|,G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471723|retained_intron||n.*653G>C|||||1423|,G|downstream_gene_variant|MODIFIER|TUBA3FP|ENSG00000161149|transcript|ENST00000442739|transcribed_unprocessed_pseudogene||n.*958G>C|||||3026|,G|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron|3/3|n.1192G>C||||||,G|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron|2/2|n.1713G>C||||||,G|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron|3/3|n.1604G>C|||||| 22 21354164 . G GC . . ANN=C|3_prime_UTR_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding|4/4|c.*4dupG|||||4|,C|3_prime_UTR_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding|5/5|c.*4dupG|||||4|,C|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000452284|antisense||n.-1_-1insC|||||2332|,C|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000436079|antisense||n.-1_-1insC|||||2010|,C|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000429962|antisense||n.-1_-1insC|||||2046|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.*2882_*2882insC|||||838|,C|downstream_gene_variant|MODIFIER|AC002472.1|ENSG00000269103|transcript|ENST00000547793|protein_coding||c.*192dupG|||||3865|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.*3442_*3442insC|||||1755|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.*2507_*2507insC|||||2410|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.*294_*294insC|||||3764|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.*720_*720insC|||||3879|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.*527_*527insC|||||3877|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.*334_*334insC|||||3164|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.*566_*566insC|||||4487|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.*165_*165insC|||||2335|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.*3505_*3505insC|||||844|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.*1044_*1044insC|||||2107|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.*475_*475insC|||||891|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron||n.*1080dupG|||||354|,C|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron||n.*507dupG|||||396|,C|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471723|retained_intron||n.*653dupG|||||1416|,C|downstream_gene_variant|MODIFIER|TUBA3FP|ENSG00000161149|transcript|ENST00000442739|transcribed_unprocessed_pseudogene||n.*958dupG|||||3019|,C|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron|3/3|n.1185dupG||||||,C|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron|2/2|n.1706dupG||||||,C|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron|3/3|n.1597dupG|||||| 22 21354310 . C A . . ANN=A|synonymous_variant|LOW|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding|4/4|c.789G>T|p.Arg263Arg|964/1213|789/930|263/309||,A|synonymous_variant|LOW|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding|5/5|c.789G>T|p.Arg263Arg|900/1144|789/930|263/309||,A|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000452284|antisense||n.-1C>A|||||2187|,A|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000436079|antisense||n.-1C>A|||||1865|,A|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000429962|antisense||n.-1C>A|||||1901|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.*2882C>A|||||983|,A|downstream_gene_variant|MODIFIER|AC002472.1|ENSG00000269103|transcript|ENST00000547793|protein_coding||c.*192G>T|||||3720|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.*3442C>A|||||1900|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.*2507C>A|||||2555|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.*294C>A|||||3909|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.*720C>A|||||4024|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.*527C>A|||||4022|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.*334C>A|||||3309|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.*566C>A|||||4632|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.*165C>A|||||2480|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.*3505C>A|||||989|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.*1044C>A|||||2252|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.*475C>A|||||1036|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron||n.*1080G>T|||||209|,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron||n.*507G>T|||||251|,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471723|retained_intron||n.*653G>T|||||1271|,A|downstream_gene_variant|MODIFIER|TUBA3FP|ENSG00000161149|transcript|ENST00000442739|transcribed_unprocessed_pseudogene||n.*958G>T|||||2874|,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron|3/3|n.1040G>T||||||,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron|2/2|n.1561G>T||||||,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron|3/3|n.1452G>T|||||| 22 21354411 . G C . . ANN=C|missense_variant|MODERATE|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding|4/4|c.688C>G|p.His230Asp|863/1213|688/930|230/309||,C|missense_variant|MODERATE|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding|5/5|c.688C>G|p.His230Asp|799/1144|688/930|230/309||,C|sequence_feature|LOW|THAP7|ENSG00000184436|short_sequence_motif:HCFC1-binding_motif__HBM_|ENST00000399133|protein_coding|5/5|c.688C>G||||||,C|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000452284|antisense||n.-1G>C|||||2086|,C|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000436079|antisense||n.-1G>C|||||1764|,C|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000429962|antisense||n.-1G>C|||||1800|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.*2882G>C|||||1084|,C|downstream_gene_variant|MODIFIER|AC002472.1|ENSG00000269103|transcript|ENST00000547793|protein_coding||c.*192C>G|||||3619|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.*3442G>C|||||2001|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.*2507G>C|||||2656|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.*294G>C|||||4010|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.*720G>C|||||4125|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.*527G>C|||||4123|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.*334G>C|||||3410|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.*566G>C|||||4733|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.*165G>C|||||2581|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.*3505G>C|||||1090|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.*1044G>C|||||2353|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.*475G>C|||||1137|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron||n.*1080C>G|||||108|,C|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron||n.*507C>G|||||150|,C|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471723|retained_intron||n.*653C>G|||||1170|,C|downstream_gene_variant|MODIFIER|TUBA3FP|ENSG00000161149|transcript|ENST00000442739|transcribed_unprocessed_pseudogene||n.*958C>G|||||2773|,C|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron|3/3|n.939C>G||||||,C|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron|2/2|n.1460C>G||||||,C|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron|3/3|n.1351C>G|||||| 22 21354436 . G C . . ANN=C|synonymous_variant|LOW|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding|4/4|c.663C>G|p.Pro221Pro|838/1213|663/930|221/309||,C|synonymous_variant|LOW|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding|5/5|c.663C>G|p.Pro221Pro|774/1144|663/930|221/309||,C|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000452284|antisense||n.-1G>C|||||2061|,C|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000436079|antisense||n.-1G>C|||||1739|,C|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000429962|antisense||n.-1G>C|||||1775|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.*2882G>C|||||1109|,C|downstream_gene_variant|MODIFIER|AC002472.1|ENSG00000269103|transcript|ENST00000547793|protein_coding||c.*192C>G|||||3594|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.*3442G>C|||||2026|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.*2507G>C|||||2681|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.*294G>C|||||4035|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.*720G>C|||||4150|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.*527G>C|||||4148|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.*334G>C|||||3435|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.*566G>C|||||4758|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.*165G>C|||||2606|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.*3505G>C|||||1115|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.*1044G>C|||||2378|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.*475G>C|||||1162|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron||n.*1080C>G|||||83|,C|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron||n.*507C>G|||||125|,C|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471723|retained_intron||n.*653C>G|||||1145|,C|downstream_gene_variant|MODIFIER|TUBA3FP|ENSG00000161149|transcript|ENST00000442739|transcribed_unprocessed_pseudogene||n.*958C>G|||||2748|,C|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron|3/3|n.914C>G||||||,C|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron|2/2|n.1435C>G||||||,C|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron|3/3|n.1326C>G|||||| 22 21354460 . C T . . ANN=T|synonymous_variant|LOW|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding|4/4|c.639G>A|p.Ala213Ala|814/1213|639/930|213/309||,T|synonymous_variant|LOW|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding|5/5|c.639G>A|p.Ala213Ala|750/1144|639/930|213/309||,T|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000452284|antisense||n.-1C>T|||||2037|,T|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000436079|antisense||n.-1C>T|||||1715|,T|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000429962|antisense||n.-1C>T|||||1751|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.*2882C>T|||||1133|,T|downstream_gene_variant|MODIFIER|AC002472.1|ENSG00000269103|transcript|ENST00000547793|protein_coding||c.*192G>A|||||3570|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.*3442C>T|||||2050|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.*2507C>T|||||2705|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.*294C>T|||||4059|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.*720C>T|||||4174|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.*527C>T|||||4172|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.*334C>T|||||3459|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.*566C>T|||||4782|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.*165C>T|||||2630|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.*3505C>T|||||1139|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.*1044C>T|||||2402|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.*475C>T|||||1186|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron||n.*1080G>A|||||59|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron||n.*507G>A|||||101|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471723|retained_intron||n.*653G>A|||||1121|,T|downstream_gene_variant|MODIFIER|TUBA3FP|ENSG00000161149|transcript|ENST00000442739|transcribed_unprocessed_pseudogene||n.*958G>A|||||2724|,T|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron|3/3|n.890G>A||||||,T|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron|2/2|n.1411G>A||||||,T|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron|3/3|n.1302G>A|||||| 22 21354487 . G C . . ANN=C|synonymous_variant|LOW|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding|4/4|c.612C>G|p.Leu204Leu|787/1213|612/930|204/309||,C|synonymous_variant|LOW|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding|5/5|c.612C>G|p.Leu204Leu|723/1144|612/930|204/309||,C|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000452284|antisense||n.-1G>C|||||2010|,C|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000436079|antisense||n.-1G>C|||||1688|,C|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000429962|antisense||n.-1G>C|||||1724|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.*2882G>C|||||1160|,C|downstream_gene_variant|MODIFIER|AC002472.1|ENSG00000269103|transcript|ENST00000547793|protein_coding||c.*192C>G|||||3543|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.*3442G>C|||||2077|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.*2507G>C|||||2732|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.*294G>C|||||4086|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.*720G>C|||||4201|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.*527G>C|||||4199|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.*334G>C|||||3486|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.*566G>C|||||4809|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.*165G>C|||||2657|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.*3505G>C|||||1166|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.*1044G>C|||||2429|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.*475G>C|||||1213|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron||n.*1080C>G|||||32|,C|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron||n.*507C>G|||||74|,C|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471723|retained_intron||n.*653C>G|||||1094|,C|downstream_gene_variant|MODIFIER|TUBA3FP|ENSG00000161149|transcript|ENST00000442739|transcribed_unprocessed_pseudogene||n.*958C>G|||||2697|,C|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron|3/3|n.863C>G||||||,C|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron|2/2|n.1384C>G||||||,C|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron|3/3|n.1275C>G|||||| 22 21354503 . C T . . ANN=T|missense_variant|MODERATE|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding|4/4|c.596G>A|p.Arg199Gln|771/1213|596/930|199/309||,T|missense_variant|MODERATE|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding|5/5|c.596G>A|p.Arg199Gln|707/1144|596/930|199/309||,T|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000452284|antisense||n.-1C>T|||||1994|,T|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000436079|antisense||n.-1C>T|||||1672|,T|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000429962|antisense||n.-1C>T|||||1708|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.*2882C>T|||||1176|,T|downstream_gene_variant|MODIFIER|AC002472.1|ENSG00000269103|transcript|ENST00000547793|protein_coding||c.*192G>A|||||3527|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.*3442C>T|||||2093|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.*2507C>T|||||2748|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.*294C>T|||||4102|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.*720C>T|||||4217|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.*527C>T|||||4215|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.*334C>T|||||3502|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.*566C>T|||||4825|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.*165C>T|||||2673|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.*3505C>T|||||1182|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.*1044C>T|||||2445|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.*475C>T|||||1229|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron||n.*1080G>A|||||16|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron||n.*507G>A|||||58|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471723|retained_intron||n.*653G>A|||||1078|,T|downstream_gene_variant|MODIFIER|TUBA3FP|ENSG00000161149|transcript|ENST00000442739|transcribed_unprocessed_pseudogene||n.*958G>A|||||2681|,T|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron|3/3|n.847G>A||||||,T|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron|2/2|n.1368G>A||||||,T|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron|3/3|n.1259G>A|||||| 22 21354595 . C A . . ANN=A|missense_variant|MODERATE|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding|4/4|c.504G>T|p.Glu168Asp|679/1213|504/930|168/309||,A|missense_variant|MODERATE|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding|5/5|c.504G>T|p.Glu168Asp|615/1144|504/930|168/309||,A|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000452284|antisense||n.-1C>A|||||1902|,A|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000436079|antisense||n.-1C>A|||||1580|,A|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000429962|antisense||n.-1C>A|||||1616|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.*2882C>A|||||1268|,A|downstream_gene_variant|MODIFIER|AC002472.1|ENSG00000269103|transcript|ENST00000547793|protein_coding||c.*192G>T|||||3435|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.*3442C>A|||||2185|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.*2507C>A|||||2840|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.*294C>A|||||4194|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.*720C>A|||||4309|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.*527C>A|||||4307|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.*334C>A|||||3594|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.*566C>A|||||4917|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.*165C>A|||||2765|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.*3505C>A|||||1274|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.*1044C>A|||||2537|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.*475C>A|||||1321|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471723|retained_intron||n.*653G>T|||||986|,A|downstream_gene_variant|MODIFIER|TUBA3FP|ENSG00000161149|transcript|ENST00000442739|transcribed_unprocessed_pseudogene||n.*958G>T|||||2589|,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron|3/3|n.755G>T||||||,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron|2/2|n.1276G>T||||||,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron|3/3|n.1167G>T||||||,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron|4/4|n.1004G>T||||||,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron|3/3|n.473G>T|||||| 22 21354621 . G A . . ANN=A|missense_variant|MODERATE|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding|4/4|c.478C>T|p.Pro160Ser|653/1213|478/930|160/309||,A|missense_variant|MODERATE|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding|5/5|c.478C>T|p.Pro160Ser|589/1144|478/930|160/309||,A|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000452284|antisense||n.-1G>A|||||1876|,A|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000436079|antisense||n.-1G>A|||||1554|,A|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000429962|antisense||n.-1G>A|||||1590|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.*2882G>A|||||1294|,A|downstream_gene_variant|MODIFIER|AC002472.1|ENSG00000269103|transcript|ENST00000547793|protein_coding||c.*192C>T|||||3409|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.*3442G>A|||||2211|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.*2507G>A|||||2866|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.*294G>A|||||4220|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.*720G>A|||||4335|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.*527G>A|||||4333|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.*334G>A|||||3620|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.*566G>A|||||4943|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.*165G>A|||||2791|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.*3505G>A|||||1300|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.*1044G>A|||||2563|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.*475G>A|||||1347|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471723|retained_intron||n.*653C>T|||||960|,A|downstream_gene_variant|MODIFIER|TUBA3FP|ENSG00000161149|transcript|ENST00000442739|transcribed_unprocessed_pseudogene||n.*958C>T|||||2563|,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron|3/3|n.729C>T||||||,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron|2/2|n.1250C>T||||||,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron|3/3|n.1141C>T||||||,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron|4/4|n.978C>T||||||,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron|3/3|n.447C>T|||||| 22 21354676 . T A . . ANN=A|synonymous_variant|LOW|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding|4/4|c.423A>T|p.Pro141Pro|598/1213|423/930|141/309||,A|synonymous_variant|LOW|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding|5/5|c.423A>T|p.Pro141Pro|534/1144|423/930|141/309||,A|sequence_feature|LOW|THAP7|ENSG00000184436|compositionally_biased_region:Poly-Pro|ENST00000399133|protein_coding|5/5|c.423A>T||||||,A|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000452284|antisense||n.-1T>A|||||1821|,A|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000436079|antisense||n.-1T>A|||||1499|,A|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000429962|antisense||n.-1T>A|||||1535|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.*2882T>A|||||1349|,A|downstream_gene_variant|MODIFIER|AC002472.1|ENSG00000269103|transcript|ENST00000547793|protein_coding||c.*192A>T|||||3354|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.*3442T>A|||||2266|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.*2507T>A|||||2921|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.*294T>A|||||4275|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.*720T>A|||||4390|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.*527T>A|||||4388|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.*334T>A|||||3675|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.*566T>A|||||4998|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.*165T>A|||||2846|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.*3505T>A|||||1355|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.*1044T>A|||||2618|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.*475T>A|||||1402|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471723|retained_intron||n.*653A>T|||||905|,A|downstream_gene_variant|MODIFIER|TUBA3FP|ENSG00000161149|transcript|ENST00000442739|transcribed_unprocessed_pseudogene||n.*958A>T|||||2508|,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron|3/3|n.674A>T||||||,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron|2/2|n.1195A>T||||||,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron|3/3|n.1086A>T||||||,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron|4/4|n.923A>T||||||,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron|3/3|n.392A>T|||||| 22 21354680 . G C . . ANN=C|missense_variant|MODERATE|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding|4/4|c.419C>G|p.Pro140Arg|594/1213|419/930|140/309||,C|missense_variant|MODERATE|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding|5/5|c.419C>G|p.Pro140Arg|530/1144|419/930|140/309||,C|sequence_feature|LOW|THAP7|ENSG00000184436|compositionally_biased_region:Poly-Pro|ENST00000399133|protein_coding|5/5|c.419C>G||||||,C|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000452284|antisense||n.-1G>C|||||1817|,C|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000436079|antisense||n.-1G>C|||||1495|,C|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000429962|antisense||n.-1G>C|||||1531|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.*2882G>C|||||1353|,C|downstream_gene_variant|MODIFIER|AC002472.1|ENSG00000269103|transcript|ENST00000547793|protein_coding||c.*192C>G|||||3350|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.*3442G>C|||||2270|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.*2507G>C|||||2925|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.*294G>C|||||4279|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.*720G>C|||||4394|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.*527G>C|||||4392|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.*334G>C|||||3679|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.*165G>C|||||2850|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.*3505G>C|||||1359|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.*1044G>C|||||2622|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.*475G>C|||||1406|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471723|retained_intron||n.*653C>G|||||901|,C|downstream_gene_variant|MODIFIER|TUBA3FP|ENSG00000161149|transcript|ENST00000442739|transcribed_unprocessed_pseudogene||n.*958C>G|||||2504|,C|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron|3/3|n.670C>G||||||,C|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron|2/2|n.1191C>G||||||,C|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron|3/3|n.1082C>G||||||,C|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron|4/4|n.919C>G||||||,C|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron|3/3|n.388C>G|||||| 22 21354748 . T G . . ANN=G|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000452284|antisense||n.-1T>G|||||1749|,G|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000436079|antisense||n.-1T>G|||||1427|,G|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000429962|antisense||n.-1T>G|||||1463|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.*2882T>G|||||1421|,G|downstream_gene_variant|MODIFIER|AC002472.1|ENSG00000269103|transcript|ENST00000547793|protein_coding||c.*192A>C|||||3282|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.*3442T>G|||||2338|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.*2507T>G|||||2993|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.*294T>G|||||4347|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.*720T>G|||||4462|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.*527T>G|||||4460|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.*334T>G|||||3747|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.*165T>G|||||2918|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.*3505T>G|||||1427|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.*1044T>G|||||2690|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.*475T>G|||||1474|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471723|retained_intron||n.*653A>C|||||833|,G|downstream_gene_variant|MODIFIER|TUBA3FP|ENSG00000161149|transcript|ENST00000442739|transcribed_unprocessed_pseudogene||n.*958A>C|||||2436|,G|intron_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding|3/3|c.378-27A>C||||||,G|intron_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron|2/2|n.629-27A>C||||||,G|intron_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron|1/1|n.1150-27A>C||||||,G|intron_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding|4/4|c.378-27A>C||||||,G|intron_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron|2/2|n.1041-27A>C||||||,G|intron_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron|3/3|n.878-27A>C||||||,G|intron_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron|2/2|n.347-27A>C|||||| 22 21354915 . TC T . . ANN=|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000452284|antisense||n.-1delC|||||1581|,|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000436079|antisense||n.-1delC|||||1259|,|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000429962|antisense||n.-1delC|||||1295|,|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.*2882delC|||||1589|,|downstream_gene_variant|MODIFIER|AC002472.1|ENSG00000269103|transcript|ENST00000547793|protein_coding||c.*192delG|||||3114|WARNING_TRANSCRIPT_NO_START_CODON,|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.*3442delC|||||2506|,|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.*2507delC|||||3161|,|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.*294delC|||||4515|,|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.*720delC|||||4630|,|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.*527delC|||||4628|,|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.*334delC|||||3915|,|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.*165delC|||||3086|,|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.*3505delC|||||1595|,|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.*1044delC|||||2858|,|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.*475delC|||||1642|WARNING_TRANSCRIPT_NO_START_CODON,|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471723|retained_intron||n.*653delG|||||665|,|downstream_gene_variant|MODIFIER|TUBA3FP|ENSG00000161149|transcript|ENST00000442739|transcribed_unprocessed_pseudogene||n.*958delG|||||2268|,|intron_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding|3/3|c.377+20delG||||||,|intron_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron|2/2|n.628+20delG||||||,|intron_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron|1/1|n.1149+20delG||||||,|intron_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding|4/4|c.377+20delG||||||,|intron_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron|2/2|n.1040+20delG||||||,|intron_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron|3/3|n.877+20delG||||||,|intron_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron|2/2|n.346+20delG|||||| 22 21354956 . C G . . ANN=G|synonymous_variant|LOW|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding|3/4|c.357G>C|p.Arg119Arg|532/1213|357/930|119/309||,G|synonymous_variant|LOW|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding|4/5|c.357G>C|p.Arg119Arg|468/1144|357/930|119/309||,G|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000452284|antisense||n.-1C>G|||||1541|,G|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000436079|antisense||n.-1C>G|||||1219|,G|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000429962|antisense||n.-1C>G|||||1255|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.*2882C>G|||||1629|,G|downstream_gene_variant|MODIFIER|AC002472.1|ENSG00000269103|transcript|ENST00000547793|protein_coding||c.*192G>C|||||3074|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.*3442C>G|||||2546|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.*2507C>G|||||3201|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.*294C>G|||||4555|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.*720C>G|||||4670|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.*527C>G|||||4668|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.*334C>G|||||3955|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.*165C>G|||||3126|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.*3505C>G|||||1635|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.*1044C>G|||||2898|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.*475C>G|||||1682|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471723|retained_intron||n.*653G>C|||||625|,G|downstream_gene_variant|MODIFIER|TUBA3FP|ENSG00000161149|transcript|ENST00000442739|transcribed_unprocessed_pseudogene||n.*958G>C|||||2228|,G|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron|2/3|n.608G>C||||||,G|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron|1/2|n.1129G>C||||||,G|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron|2/3|n.1020G>C||||||,G|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron|3/4|n.857G>C||||||,G|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron|2/3|n.326G>C|||||| 22 21354970 . C G . . ANN=G|missense_variant|MODERATE|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding|3/4|c.343G>C|p.Ala115Pro|518/1213|343/930|115/309||,G|missense_variant|MODERATE|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding|4/5|c.343G>C|p.Ala115Pro|454/1144|343/930|115/309||,G|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000452284|antisense||n.-1C>G|||||1527|,G|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000436079|antisense||n.-1C>G|||||1205|,G|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000429962|antisense||n.-1C>G|||||1241|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.*2882C>G|||||1643|,G|downstream_gene_variant|MODIFIER|AC002472.1|ENSG00000269103|transcript|ENST00000547793|protein_coding||c.*192G>C|||||3060|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.*3442C>G|||||2560|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.*2507C>G|||||3215|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.*294C>G|||||4569|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.*720C>G|||||4684|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.*527C>G|||||4682|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.*334C>G|||||3969|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.*165C>G|||||3140|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.*3505C>G|||||1649|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.*1044C>G|||||2912|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.*475C>G|||||1696|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471723|retained_intron||n.*653G>C|||||611|,G|downstream_gene_variant|MODIFIER|TUBA3FP|ENSG00000161149|transcript|ENST00000442739|transcribed_unprocessed_pseudogene||n.*958G>C|||||2214|,G|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron|2/3|n.594G>C||||||,G|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron|1/2|n.1115G>C||||||,G|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron|2/3|n.1006G>C||||||,G|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron|3/4|n.843G>C||||||,G|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron|2/3|n.312G>C|||||| 22 21355046 . G A . . ANN=A|synonymous_variant|LOW|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding|3/4|c.267C>T|p.Val89Val|442/1213|267/930|89/309||,A|synonymous_variant|LOW|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding|4/5|c.267C>T|p.Val89Val|378/1144|267/930|89/309||,A|sequence_feature|LOW|THAP7|ENSG00000184436|zinc_finger_region:THAP-type|ENST00000399133|protein_coding|2/5|c.267C>T||||||,A|sequence_feature|LOW|THAP7|ENSG00000184436|zinc_finger_region:THAP-type|ENST00000399133|protein_coding|4/5|c.267C>T||||||,A|sequence_feature|LOW|THAP7|ENSG00000184436|zinc_finger_region:THAP-type|ENST00000399133|protein_coding|3/5|c.267C>T||||||,A|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000452284|antisense||n.-1G>A|||||1451|,A|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000436079|antisense||n.-1G>A|||||1129|,A|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000429962|antisense||n.-1G>A|||||1165|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.*2882G>A|||||1719|,A|downstream_gene_variant|MODIFIER|AC002472.1|ENSG00000269103|transcript|ENST00000547793|protein_coding||c.*192C>T|||||2984|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.*3442G>A|||||2636|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.*2507G>A|||||3291|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.*294G>A|||||4645|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.*720G>A|||||4760|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.*527G>A|||||4758|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.*334G>A|||||4045|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.*165G>A|||||3216|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.*3505G>A|||||1725|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.*1044G>A|||||2988|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.*475G>A|||||1772|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471723|retained_intron||n.*653C>T|||||535|,A|downstream_gene_variant|MODIFIER|TUBA3FP|ENSG00000161149|transcript|ENST00000442739|transcribed_unprocessed_pseudogene||n.*958C>T|||||2138|,A|intron_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron|1/2|n.264-28C>T||||||,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron|2/3|n.518C>T||||||,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron|1/2|n.1039C>T||||||,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron|2/3|n.930C>T||||||,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron|3/4|n.767C>T|||||| 22 21355101 . A G . . ANN=G|sequence_feature|LOW|THAP7|ENSG00000184436|zinc_finger_region:THAP-type|ENST00000399133|protein_coding|2/5|c.237-25T>C||||||,G|sequence_feature|LOW|THAP7|ENSG00000184436|zinc_finger_region:THAP-type|ENST00000399133|protein_coding|4/5|c.237-25T>C||||||,G|sequence_feature|LOW|THAP7|ENSG00000184436|zinc_finger_region:THAP-type|ENST00000399133|protein_coding|3/5|c.237-25T>C||||||,G|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000452284|antisense||n.-1A>G|||||1396|,G|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000436079|antisense||n.-1A>G|||||1074|,G|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000429962|antisense||n.-1A>G|||||1110|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.*2882A>G|||||1774|,G|downstream_gene_variant|MODIFIER|AC002472.1|ENSG00000269103|transcript|ENST00000547793|protein_coding||c.*192T>C|||||2929|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.*3442A>G|||||2691|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.*2507A>G|||||3346|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.*294A>G|||||4700|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.*720A>G|||||4815|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.*527A>G|||||4813|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.*334A>G|||||4100|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.*165A>G|||||3271|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.*3505A>G|||||1780|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.*1044A>G|||||3043|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.*475A>G|||||1827|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471723|retained_intron||n.*653T>C|||||480|,G|downstream_gene_variant|MODIFIER|TUBA3FP|ENSG00000161149|transcript|ENST00000442739|transcribed_unprocessed_pseudogene||n.*958T>C|||||2083|,G|intron_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding|2/3|c.237-25T>C||||||,G|intron_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron|1/2|n.488-25T>C||||||,G|intron_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding|3/4|c.237-25T>C||||||,G|intron_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron|1/2|n.264-83T>C||||||,G|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron|1/2|n.984T>C||||||,G|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron|2/3|n.875T>C||||||,G|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron|3/4|n.712T>C|||||| 22 21355501 . G A . . ANN=A|sequence_feature|LOW|THAP7|ENSG00000184436|zinc_finger_region:THAP-type|ENST00000399133|protein_coding|2/5|c.236+44C>T||||||,A|sequence_feature|LOW|THAP7|ENSG00000184436|zinc_finger_region:THAP-type|ENST00000399133|protein_coding|4/5|c.236+44C>T||||||,A|sequence_feature|LOW|THAP7|ENSG00000184436|zinc_finger_region:THAP-type|ENST00000399133|protein_coding|3/5|c.236+44C>T||||||,A|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000452284|antisense||n.-1G>A|||||996|,A|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000436079|antisense||n.-1G>A|||||674|,A|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000429962|antisense||n.-1G>A|||||710|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.*2882G>A|||||2174|,A|downstream_gene_variant|MODIFIER|AC002472.1|ENSG00000269103|transcript|ENST00000547793|protein_coding||c.*192C>T|||||2529|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.*3442G>A|||||3091|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.*2507G>A|||||3746|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.*334G>A|||||4500|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.*165G>A|||||3671|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.*3505G>A|||||2180|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.*1044G>A|||||3443|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.*475G>A|||||2227|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471723|retained_intron||n.*653C>T|||||80|,A|downstream_gene_variant|MODIFIER|TUBA3FP|ENSG00000161149|transcript|ENST00000442739|transcribed_unprocessed_pseudogene||n.*958C>T|||||1683|,A|intron_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding|2/3|c.236+44C>T||||||,A|intron_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron|1/2|n.487+44C>T||||||,A|intron_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding|3/4|c.236+44C>T||||||,A|intron_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron|1/2|n.263+44C>T||||||,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron|1/2|n.584C>T||||||,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron|2/3|n.475C>T||||||,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron|3/4|n.312C>T|||||| 22 21355503 . G GC . . ANN=C|sequence_feature|LOW|THAP7|ENSG00000184436|zinc_finger_region:THAP-type|ENST00000399133|protein_coding|2/5|c.236+41dupG||||||,C|sequence_feature|LOW|THAP7|ENSG00000184436|zinc_finger_region:THAP-type|ENST00000399133|protein_coding|4/5|c.236+41dupG||||||,C|sequence_feature|LOW|THAP7|ENSG00000184436|zinc_finger_region:THAP-type|ENST00000399133|protein_coding|3/5|c.236+41dupG||||||,C|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000452284|antisense||n.-1_-1insC|||||993|,C|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000436079|antisense||n.-1_-1insC|||||671|,C|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000429962|antisense||n.-1_-1insC|||||707|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.*2882_*2882insC|||||2177|,C|downstream_gene_variant|MODIFIER|AC002472.1|ENSG00000269103|transcript|ENST00000547793|protein_coding||c.*192dupG|||||2526|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.*3442_*3442insC|||||3094|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.*2507_*2507insC|||||3749|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.*334_*334insC|||||4503|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.*165_*165insC|||||3674|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.*3505_*3505insC|||||2183|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.*1044_*1044insC|||||3446|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.*475_*475insC|||||2230|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471723|retained_intron||n.*653dupG|||||77|,C|downstream_gene_variant|MODIFIER|TUBA3FP|ENSG00000161149|transcript|ENST00000442739|transcribed_unprocessed_pseudogene||n.*958dupG|||||1680|,C|intron_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding|2/3|c.236+41dupG||||||,C|intron_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron|1/2|n.487+41dupG||||||,C|intron_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding|3/4|c.236+41dupG||||||,C|intron_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron|1/2|n.263+41dupG||||||,C|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron|1/2|n.581dupG||||||,C|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron|2/3|n.472dupG||||||,C|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron|3/4|n.309dupG|||||| 22 21355530 . G A . . ANN=A|sequence_feature|LOW|THAP7|ENSG00000184436|zinc_finger_region:THAP-type|ENST00000399133|protein_coding|2/5|c.236+15C>T||||||,A|sequence_feature|LOW|THAP7|ENSG00000184436|zinc_finger_region:THAP-type|ENST00000399133|protein_coding|4/5|c.236+15C>T||||||,A|sequence_feature|LOW|THAP7|ENSG00000184436|zinc_finger_region:THAP-type|ENST00000399133|protein_coding|3/5|c.236+15C>T||||||,A|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000452284|antisense||n.-1G>A|||||967|,A|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000436079|antisense||n.-1G>A|||||645|,A|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000429962|antisense||n.-1G>A|||||681|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.*2882G>A|||||2203|,A|downstream_gene_variant|MODIFIER|AC002472.1|ENSG00000269103|transcript|ENST00000547793|protein_coding||c.*192C>T|||||2500|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.*3442G>A|||||3120|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.*2507G>A|||||3775|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.*334G>A|||||4529|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.*165G>A|||||3700|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.*3505G>A|||||2209|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.*1044G>A|||||3472|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.*475G>A|||||2256|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471723|retained_intron||n.*653C>T|||||51|,A|downstream_gene_variant|MODIFIER|TUBA3FP|ENSG00000161149|transcript|ENST00000442739|transcribed_unprocessed_pseudogene||n.*958C>T|||||1654|,A|intron_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding|2/3|c.236+15C>T||||||,A|intron_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron|1/2|n.487+15C>T||||||,A|intron_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding|3/4|c.236+15C>T||||||,A|intron_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron|1/2|n.263+15C>T||||||,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron|1/2|n.555C>T||||||,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron|2/3|n.446C>T||||||,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron|3/4|n.283C>T|||||| 22 21355571 . C T . . ANN=T|synonymous_variant|LOW|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding|2/4|c.210G>A|p.Glu70Glu|385/1213|210/930|70/309||,T|synonymous_variant|LOW|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding|3/5|c.210G>A|p.Glu70Glu|321/1144|210/930|70/309||,T|sequence_feature|LOW|THAP7|ENSG00000184436|zinc_finger_region:THAP-type|ENST00000399133|protein_coding|2/5|c.210G>A||||||,T|sequence_feature|LOW|THAP7|ENSG00000184436|zinc_finger_region:THAP-type|ENST00000399133|protein_coding|4/5|c.210G>A||||||,T|sequence_feature|LOW|THAP7|ENSG00000184436|zinc_finger_region:THAP-type|ENST00000399133|protein_coding|3/5|c.210G>A||||||,T|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000452284|antisense||n.-1C>T|||||926|,T|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000436079|antisense||n.-1C>T|||||604|,T|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000429962|antisense||n.-1C>T|||||640|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.*2882C>T|||||2244|,T|downstream_gene_variant|MODIFIER|AC002472.1|ENSG00000269103|transcript|ENST00000547793|protein_coding||c.*192G>A|||||2459|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.*3442C>T|||||3161|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.*2507C>T|||||3816|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.*334C>T|||||4570|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.*165C>T|||||3741|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.*3505C>T|||||2250|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.*1044C>T|||||3513|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.*475C>T|||||2297|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471723|retained_intron||n.*653G>A|||||10|,T|downstream_gene_variant|MODIFIER|TUBA3FP|ENSG00000161149|transcript|ENST00000442739|transcribed_unprocessed_pseudogene||n.*958G>A|||||1613|,T|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron|1/3|n.461G>A||||||,T|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron|1/2|n.514G>A||||||,T|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron|2/3|n.405G>A||||||,T|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron|3/4|n.242G>A||||||,T|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron|1/3|n.237G>A|||||| 22 21355576 . C G . . ANN=G|missense_variant|MODERATE|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding|2/4|c.205G>C|p.Glu69Gln|380/1213|205/930|69/309||,G|missense_variant|MODERATE|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding|3/5|c.205G>C|p.Glu69Gln|316/1144|205/930|69/309||,G|sequence_feature|LOW|THAP7|ENSG00000184436|zinc_finger_region:THAP-type|ENST00000399133|protein_coding|2/5|c.205G>C||||||,G|sequence_feature|LOW|THAP7|ENSG00000184436|zinc_finger_region:THAP-type|ENST00000399133|protein_coding|4/5|c.205G>C||||||,G|sequence_feature|LOW|THAP7|ENSG00000184436|zinc_finger_region:THAP-type|ENST00000399133|protein_coding|3/5|c.205G>C||||||,G|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000452284|antisense||n.-1C>G|||||921|,G|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000436079|antisense||n.-1C>G|||||599|,G|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000429962|antisense||n.-1C>G|||||635|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.*2882C>G|||||2249|,G|downstream_gene_variant|MODIFIER|AC002472.1|ENSG00000269103|transcript|ENST00000547793|protein_coding||c.*192G>C|||||2454|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.*3442C>G|||||3166|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.*2507C>G|||||3821|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.*334C>G|||||4575|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.*165C>G|||||3746|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.*3505C>G|||||2255|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.*1044C>G|||||3518|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.*475C>G|||||2302|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471723|retained_intron||n.*653G>C|||||5|,G|downstream_gene_variant|MODIFIER|TUBA3FP|ENSG00000161149|transcript|ENST00000442739|transcribed_unprocessed_pseudogene||n.*958G>C|||||1608|,G|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron|1/3|n.456G>C||||||,G|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron|1/2|n.509G>C||||||,G|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron|2/3|n.400G>C||||||,G|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron|3/4|n.237G>C||||||,G|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron|1/3|n.232G>C|||||| 22 21355607 . G A . . ANN=A|synonymous_variant|LOW|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding|2/4|c.174C>T|p.Ser58Ser|349/1213|174/930|58/309||,A|synonymous_variant|LOW|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding|3/5|c.174C>T|p.Ser58Ser|285/1144|174/930|58/309||,A|sequence_feature|LOW|THAP7|ENSG00000184436|zinc_finger_region:THAP-type|ENST00000399133|protein_coding|2/5|c.174C>T||||||,A|sequence_feature|LOW|THAP7|ENSG00000184436|zinc_finger_region:THAP-type|ENST00000399133|protein_coding|4/5|c.174C>T||||||,A|sequence_feature|LOW|THAP7|ENSG00000184436|zinc_finger_region:THAP-type|ENST00000399133|protein_coding|3/5|c.174C>T||||||,A|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000452284|antisense||n.-1G>A|||||890|,A|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000436079|antisense||n.-1G>A|||||568|,A|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000429962|antisense||n.-1G>A|||||604|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.*2882G>A|||||2280|,A|downstream_gene_variant|MODIFIER|AC002472.1|ENSG00000269103|transcript|ENST00000547793|protein_coding||c.*192C>T|||||2423|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.*3442G>A|||||3197|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.*2507G>A|||||3852|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.*334G>A|||||4606|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.*165G>A|||||3777|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.*3505G>A|||||2286|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.*1044G>A|||||3549|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.*475G>A|||||2333|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|TUBA3FP|ENSG00000161149|transcript|ENST00000442739|transcribed_unprocessed_pseudogene||n.*958C>T|||||1577|,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron|1/3|n.425C>T||||||,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron|1/2|n.478C>T||||||,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron|2/3|n.369C>T||||||,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron|3/4|n.206C>T||||||,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron|1/3|n.201C>T||||||,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471723|retained_intron|2/2|n.627C>T|||||| 22 21355612 . C A . . ANN=A|missense_variant|MODERATE|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding|2/4|c.169G>T|p.Ala57Ser|344/1213|169/930|57/309||,A|missense_variant|MODERATE|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding|3/5|c.169G>T|p.Ala57Ser|280/1144|169/930|57/309||,A|sequence_feature|LOW|THAP7|ENSG00000184436|zinc_finger_region:THAP-type|ENST00000399133|protein_coding|2/5|c.169G>T||||||,A|sequence_feature|LOW|THAP7|ENSG00000184436|zinc_finger_region:THAP-type|ENST00000399133|protein_coding|4/5|c.169G>T||||||,A|sequence_feature|LOW|THAP7|ENSG00000184436|zinc_finger_region:THAP-type|ENST00000399133|protein_coding|3/5|c.169G>T||||||,A|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000452284|antisense||n.-1C>A|||||885|,A|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000436079|antisense||n.-1C>A|||||563|,A|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000429962|antisense||n.-1C>A|||||599|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.*2882C>A|||||2285|,A|downstream_gene_variant|MODIFIER|AC002472.1|ENSG00000269103|transcript|ENST00000547793|protein_coding||c.*192G>T|||||2418|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.*3442C>A|||||3202|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.*2507C>A|||||3857|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.*334C>A|||||4611|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.*165C>A|||||3782|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.*3505C>A|||||2291|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.*1044C>A|||||3554|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.*475C>A|||||2338|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|TUBA3FP|ENSG00000161149|transcript|ENST00000442739|transcribed_unprocessed_pseudogene||n.*958G>T|||||1572|,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron|1/3|n.420G>T||||||,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron|1/2|n.473G>T||||||,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron|2/3|n.364G>T||||||,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron|3/4|n.201G>T||||||,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron|1/3|n.196G>T||||||,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471723|retained_intron|2/2|n.622G>T|||||| 22 21356159 . G A . . ANN=A|synonymous_variant|LOW|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding|1/4|c.42C>T|p.Asp14Asp|217/1213|42/930|14/309||,A|synonymous_variant|LOW|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding|2/5|c.42C>T|p.Asp14Asp|153/1144|42/930|14/309||,A|sequence_feature|LOW|THAP7|ENSG00000184436|zinc_finger_region:THAP-type|ENST00000399133|protein_coding|2/5|c.42C>T||||||,A|sequence_feature|LOW|THAP7|ENSG00000184436|zinc_finger_region:THAP-type|ENST00000399133|protein_coding|4/5|c.42C>T||||||,A|sequence_feature|LOW|THAP7|ENSG00000184436|zinc_finger_region:THAP-type|ENST00000399133|protein_coding|3/5|c.42C>T||||||,A|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000452284|antisense||n.-1G>A|||||338|,A|upstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron||n.-1C>T|||||128|,A|upstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron||n.-1C>T|||||75|,A|upstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron||n.-1C>T|||||352|,A|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000436079|antisense||n.-1G>A|||||16|,A|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000429962|antisense||n.-1G>A|||||52|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.*2882G>A|||||2832|,A|downstream_gene_variant|MODIFIER|AC002472.1|ENSG00000269103|transcript|ENST00000547793|protein_coding||c.*192C>T|||||1871|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.*3442G>A|||||3749|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.*2507G>A|||||4404|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.*165G>A|||||4329|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.*3505G>A|||||2838|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.*1044G>A|||||4101|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.*475G>A|||||2885|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|TUBA3FP|ENSG00000161149|transcript|ENST00000442739|transcribed_unprocessed_pseudogene||n.*958C>T|||||1025|,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron|1/3|n.237C>T||||||,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron|2/4|n.74C>T||||||,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471723|retained_intron|2/2|n.75C>T|||||| 22 21356175 . C T . . ANN=T|missense_variant|MODERATE|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding|1/4|c.26G>A|p.Gly9Asp|201/1213|26/930|9/309||,T|missense_variant|MODERATE|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding|2/5|c.26G>A|p.Gly9Asp|137/1144|26/930|9/309||,T|sequence_feature|LOW|THAP7|ENSG00000184436|zinc_finger_region:THAP-type|ENST00000399133|protein_coding|2/5|c.26G>A||||||,T|sequence_feature|LOW|THAP7|ENSG00000184436|zinc_finger_region:THAP-type|ENST00000399133|protein_coding|4/5|c.26G>A||||||,T|sequence_feature|LOW|THAP7|ENSG00000184436|zinc_finger_region:THAP-type|ENST00000399133|protein_coding|3/5|c.26G>A||||||,T|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000452284|antisense||n.-1C>T|||||322|,T|upstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron||n.-1G>A|||||144|,T|upstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron||n.-1G>A|||||91|,T|upstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron||n.-1G>A|||||368|,T|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000429962|antisense||n.-1C>T|||||36|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.*2882C>T|||||2848|,T|downstream_gene_variant|MODIFIER|AC002472.1|ENSG00000269103|transcript|ENST00000547793|protein_coding||c.*192G>A|||||1855|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.*3442C>T|||||3765|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.*2507C>T|||||4420|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.*165C>T|||||4345|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.*3505C>T|||||2854|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.*1044C>T|||||4117|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.*475C>T|||||2901|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|TUBA3FP|ENSG00000161149|transcript|ENST00000442739|transcribed_unprocessed_pseudogene||n.*958G>A|||||1009|,T|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron|1/3|n.221G>A||||||,T|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron|2/4|n.58G>A||||||,T|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471723|retained_intron|2/2|n.59G>A||||||,T|non_coding_exon_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000436079|antisense|1/2|n.1C>T|||||| 22 21369521 . T C . . ANN=C|missense_variant|MODERATE|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding|1/12|c.58T>C|p.Trp20Arg|206/3687|58/1326|20/441||,C|missense_variant|MODERATE|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding|1/10|c.28T>C|p.Trp10Arg|80/2512|28/213|10/70||,C|missense_variant|MODERATE|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding|1/12|c.28T>C|p.Trp10Arg|73/3554|28/1296|10/431||,C|missense_variant|MODERATE|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding|1/12|c.58T>C|p.Trp20Arg|63/1834|58/1248|20/415||,C|5_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding|1/13|c.-97T>C|||||97|,C|upstream_gene_variant|MODIFIER|TUBA3FP|ENSG00000161149|transcript|ENST00000422086|processed_transcript||n.-1A>G|||||945|,C|upstream_gene_variant|MODIFIER|TUBA3FP|ENSG00000161149|transcript|ENST00000292748|processed_transcript||n.-1A>G|||||940|,C|downstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000452284|antisense||n.*2298T>C|||||4890|,C|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000591411|processed_transcript|1/2|n.70-710T>C||||||,C|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|1/10|n.58T>C||||||,C|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000469722|retained_intron|1/3|n.58T>C||||||,C|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000452228|nonsense_mediated_decay|1/5|n.49T>C||||||,C|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|1/13|n.46T>C||||||,C|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|1/11|n.43T>C|||||| 22 21369611 . G A . . ANN=A|missense_variant|MODERATE|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding|1/12|c.148G>A|p.Val50Met|296/3687|148/1326|50/441||,A|missense_variant|MODERATE|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding|1/12|c.118G>A|p.Val40Met|163/3554|118/1296|40/431||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding|1/13|c.-7G>A||||||,A|5_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding|1/13|c.-7G>A|||||7|,A|upstream_gene_variant|MODIFIER|TUBA3FP|ENSG00000161149|transcript|ENST00000422086|processed_transcript||n.-1C>T|||||1035|,A|upstream_gene_variant|MODIFIER|TUBA3FP|ENSG00000161149|transcript|ENST00000292748|processed_transcript||n.-1C>T|||||1030|,A|downstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000452284|antisense||n.*2298G>A|||||4980|,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000591411|processed_transcript|1/2|n.70-620G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding|1/9|c.56+62G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|1/9|n.86+62G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding|1/11|c.86+62G>A||||||,A|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000469722|retained_intron|1/3|n.148G>A||||||,A|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000452228|nonsense_mediated_decay|1/5|n.139G>A||||||,A|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|1/13|n.136G>A||||||,A|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|1/11|n.133G>A|||||| 22 21370197 . G A . . ANN=A|upstream_gene_variant|MODIFIER|TUBA3FP|ENSG00000161149|transcript|ENST00000422086|processed_transcript||n.-1C>T|||||1621|,A|upstream_gene_variant|MODIFIER|TUBA3FP|ENSG00000161149|transcript|ENST00000292748|processed_transcript||n.-1C>T|||||1616|,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding|1/11|c.165-34G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000591411|processed_transcript|1/2|n.70-34G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding|1/9|c.57-34G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|1/9|n.87-34G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding|1/11|c.135-34G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding|1/11|c.87-34G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000469722|retained_intron|1/2|n.165-34G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000452228|nonsense_mediated_decay|1/4|n.156-34G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding|1/12|c.6-34G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|1/12|n.148-34G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|1/10|n.150-34G>A|||||| 22 21370237 . T G . . ANN=G|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding|2/12|c.171T>G|p.Ala57Ala|319/3687|171/1326|57/441||,G|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding|2/10|c.63T>G|p.Ala21Ala|115/2512|63/213|21/70||,G|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding|2/12|c.141T>G|p.Ala47Ala|186/3554|141/1296|47/431||,G|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding|2/12|c.93T>G|p.Ala31Ala|98/1834|93/1248|31/415||,G|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding|2/13|c.12T>G|p.Ala4Ala|154/2149|12/1167|4/388||,G|upstream_gene_variant|MODIFIER|TUBA3FP|ENSG00000161149|transcript|ENST00000422086|processed_transcript||n.-1A>C|||||1661|,G|upstream_gene_variant|MODIFIER|TUBA3FP|ENSG00000161149|transcript|ENST00000292748|processed_transcript||n.-1A>C|||||1656|,G|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000591411|processed_transcript|2/3|n.76T>G||||||,G|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|2/10|n.93T>G||||||,G|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000469722|retained_intron|2/3|n.171T>G||||||,G|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000452228|nonsense_mediated_decay|2/5|n.162T>G||||||,G|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|2/13|n.154T>G||||||,G|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|2/11|n.156T>G|||||| 22 21370243 . C G . . ANN=G|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding|2/12|c.177C>G|p.Leu59Leu|325/3687|177/1326|59/441||,G|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding|2/10|c.69C>G|p.Leu23Leu|121/2512|69/213|23/70||,G|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding|2/12|c.147C>G|p.Leu49Leu|192/3554|147/1296|49/431||,G|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding|2/12|c.99C>G|p.Leu33Leu|104/1834|99/1248|33/415||,G|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding|2/13|c.18C>G|p.Leu6Leu|160/2149|18/1167|6/388||,G|upstream_gene_variant|MODIFIER|TUBA3FP|ENSG00000161149|transcript|ENST00000422086|processed_transcript||n.-1G>C|||||1667|,G|upstream_gene_variant|MODIFIER|TUBA3FP|ENSG00000161149|transcript|ENST00000292748|processed_transcript||n.-1G>C|||||1662|,G|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000591411|processed_transcript|2/3|n.82C>G||||||,G|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|2/10|n.99C>G||||||,G|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000469722|retained_intron|2/3|n.177C>G||||||,G|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000452228|nonsense_mediated_decay|2/5|n.168C>G||||||,G|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|2/13|n.160C>G||||||,G|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|2/11|n.162C>G|||||| 22 21372374 . G A . . ANN=A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|3/12|c.309+25G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|8/12|c.309+25G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|10/12|c.309+25G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|6/12|c.309+25G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|7/12|c.309+25G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|9/12|c.309+25G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|4/12|c.309+25G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|5/12|c.309+25G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|2/12|c.309+25G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|disulfide_bond|ENST00000401443|protein_coding|3/12|c.309+25G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|disulfide_bond|ENST00000401443|protein_coding|4/12|c.309+25G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|disulfide_bond|ENST00000401443|protein_coding|5/12|c.309+25G>A||||||,A|upstream_gene_variant|MODIFIER|TUBA3FP|ENSG00000161149|transcript|ENST00000422086|processed_transcript||n.-1C>T|||||3798|,A|upstream_gene_variant|MODIFIER|TUBA3FP|ENSG00000161149|transcript|ENST00000292748|processed_transcript||n.-1C>T|||||3793|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000591411|processed_transcript||n.*242G>A|||||143|,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding|3/11|c.387+25G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding|2/9|c.207+1993G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|2/9|n.237+1993G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding|3/11|c.357+25G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding|3/11|c.309+25G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000452228|nonsense_mediated_decay|3/4|n.*86+25G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding|3/12|c.228+25G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|3/12|n.370+25G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|2/10|n.300+1993G>A||||||,A|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000469722|retained_intron|3/3|n.480G>A|||||| 22 21377036 . C T . . ANN=T|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding|4/12|c.459C>T|p.Ser153Ser|607/3687|459/1326|153/441||,T|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding|4/12|c.429C>T|p.Ser143Ser|474/3554|429/1296|143/431||,T|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding|4/12|c.381C>T|p.Ser127Ser|386/1834|381/1248|127/415||,T|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding|4/13|c.300C>T|p.Ser100Ser|442/2149|300/1167|100/388||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|3/12|c.381C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|8/12|c.381C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|10/12|c.381C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|6/12|c.381C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|7/12|c.381C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|9/12|c.381C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|4/12|c.381C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|5/12|c.381C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|2/12|c.381C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|disulfide_bond|ENST00000401443|protein_coding|3/12|c.381C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|disulfide_bond|ENST00000401443|protein_coding|4/12|c.381C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|disulfide_bond|ENST00000401443|protein_coding|5/12|c.381C>T||||||,T|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|4/13|n.*49C>T|||||49|,T|upstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.-1C>T|||||602|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000591411|processed_transcript||n.*242C>T|||||4805|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000469722|retained_intron||n.*1186C>T|||||3956|,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding|2/9|c.208-195C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|2/9|n.238-195C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000452228|nonsense_mediated_decay|3/4|n.*87-195C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|2/10|n.301-195C>T||||||,T|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|4/13|n.*49C>T|||||| 22 21377051 . G A . . ANN=A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|3/12|c.385+11G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|8/12|c.385+11G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|10/12|c.385+11G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|6/12|c.385+11G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|7/12|c.385+11G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|9/12|c.385+11G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|4/12|c.385+11G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|5/12|c.385+11G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|2/12|c.385+11G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|disulfide_bond|ENST00000401443|protein_coding|3/12|c.385+11G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|disulfide_bond|ENST00000401443|protein_coding|4/12|c.385+11G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|disulfide_bond|ENST00000401443|protein_coding|5/12|c.385+11G>A||||||,A|upstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.-1G>A|||||587|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000591411|processed_transcript||n.*242G>A|||||4820|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000469722|retained_intron||n.*1186G>A|||||3971|,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding|4/11|c.463+11G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding|2/9|c.208-180G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|2/9|n.238-180G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding|4/11|c.433+11G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding|4/11|c.385+11G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000452228|nonsense_mediated_decay|3/4|n.*87-180G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding|4/12|c.304+11G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|4/12|n.*53+11G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|2/10|n.301-180G>A|||||| 22 21377071 . C T . . ANN=T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|3/12|c.385+31C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|8/12|c.385+31C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|10/12|c.385+31C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|6/12|c.385+31C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|7/12|c.385+31C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|9/12|c.385+31C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|4/12|c.385+31C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|5/12|c.385+31C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|2/12|c.385+31C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|disulfide_bond|ENST00000401443|protein_coding|3/12|c.385+31C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|disulfide_bond|ENST00000401443|protein_coding|4/12|c.385+31C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|disulfide_bond|ENST00000401443|protein_coding|5/12|c.385+31C>T||||||,T|upstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.-1C>T|||||567|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000591411|processed_transcript||n.*242C>T|||||4840|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000469722|retained_intron||n.*1186C>T|||||3991|,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding|4/11|c.463+31C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding|2/9|c.208-160C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|2/9|n.238-160C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding|4/11|c.433+31C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding|4/11|c.385+31C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000452228|nonsense_mediated_decay|3/4|n.*87-160C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding|4/12|c.304+31C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|4/12|n.*53+31C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|2/10|n.301-160C>T|||||| 22 21377076 . G A . . ANN=A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|3/12|c.385+36G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|8/12|c.385+36G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|10/12|c.385+36G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|6/12|c.385+36G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|7/12|c.385+36G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|9/12|c.385+36G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|4/12|c.385+36G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|5/12|c.385+36G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|2/12|c.385+36G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|disulfide_bond|ENST00000401443|protein_coding|3/12|c.385+36G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|disulfide_bond|ENST00000401443|protein_coding|4/12|c.385+36G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|disulfide_bond|ENST00000401443|protein_coding|5/12|c.385+36G>A||||||,A|upstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.-1G>A|||||562|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000591411|processed_transcript||n.*242G>A|||||4845|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000469722|retained_intron||n.*1186G>A|||||3996|,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding|4/11|c.463+36G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding|2/9|c.208-155G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|2/9|n.238-155G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding|4/11|c.433+36G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding|4/11|c.385+36G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000452228|nonsense_mediated_decay|3/4|n.*87-155G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding|4/12|c.304+36G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|4/12|n.*53+36G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|2/10|n.301-155G>A|||||| 22 21377191 . C T . . ANN=T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|3/12|c.386-40C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|8/12|c.386-40C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|10/12|c.386-40C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|6/12|c.386-40C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|7/12|c.386-40C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|9/12|c.386-40C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|4/12|c.386-40C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|5/12|c.386-40C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|2/12|c.386-40C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|disulfide_bond|ENST00000401443|protein_coding|3/12|c.386-40C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|disulfide_bond|ENST00000401443|protein_coding|4/12|c.386-40C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|disulfide_bond|ENST00000401443|protein_coding|5/12|c.386-40C>T||||||,T|upstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.-1C>T|||||447|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000591411|processed_transcript||n.*242C>T|||||4960|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000469722|retained_intron||n.*1186C>T|||||4111|,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding|4/11|c.464-40C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding|2/9|c.208-40C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|2/9|n.238-40C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding|4/11|c.434-40C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding|4/11|c.386-40C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000452228|nonsense_mediated_decay|3/4|n.*87-40C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding|4/12|c.305-40C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|4/12|n.*54-40C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|2/10|n.301-40C>T|||||| 22 21377220 . T C . . ANN=C|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|3/12|c.386-11T>C||||||,C|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|8/12|c.386-11T>C||||||,C|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|10/12|c.386-11T>C||||||,C|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|6/12|c.386-11T>C||||||,C|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|7/12|c.386-11T>C||||||,C|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|9/12|c.386-11T>C||||||,C|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|4/12|c.386-11T>C||||||,C|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|5/12|c.386-11T>C||||||,C|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|2/12|c.386-11T>C||||||,C|sequence_feature|LOW|P2RX6|ENSG00000099957|disulfide_bond|ENST00000401443|protein_coding|3/12|c.386-11T>C||||||,C|sequence_feature|LOW|P2RX6|ENSG00000099957|disulfide_bond|ENST00000401443|protein_coding|4/12|c.386-11T>C||||||,C|sequence_feature|LOW|P2RX6|ENSG00000099957|disulfide_bond|ENST00000401443|protein_coding|5/12|c.386-11T>C||||||,C|upstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.-1T>C|||||418|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000591411|processed_transcript||n.*242T>C|||||4989|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000469722|retained_intron||n.*1186T>C|||||4140|,C|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding|4/11|c.464-11T>C||||||,C|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding|2/9|c.208-11T>C||||||,C|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|2/9|n.238-11T>C||||||,C|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding|4/11|c.434-11T>C||||||,C|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding|4/11|c.386-11T>C||||||,C|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000452228|nonsense_mediated_decay|3/4|n.*87-11T>C||||||,C|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding|4/12|c.305-11T>C||||||,C|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|4/12|n.*54-11T>C||||||,C|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|2/10|n.301-11T>C|||||| 22 21377301 . C A . . ANN=A|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding|5/12|c.534C>A|p.Pro178Pro|682/3687|534/1326|178/441||,A|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding|5/12|c.504C>A|p.Pro168Pro|549/3554|504/1296|168/431||,A|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding|5/12|c.456C>A|p.Pro152Pro|461/1834|456/1248|152/415||,A|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding|5/13|c.375C>A|p.Pro125Pro|517/2149|375/1167|125/388||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|3/12|c.456C>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|8/12|c.456C>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|10/12|c.456C>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|6/12|c.456C>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|7/12|c.456C>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|9/12|c.456C>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|4/12|c.456C>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|5/12|c.456C>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|2/12|c.456C>A||||||,A|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding|3/10|c.*65C>A|||||65|,A|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|3/10|n.*65C>A|||||65|,A|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000452228|nonsense_mediated_decay|4/5|n.*157C>A|||||5038|,A|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|5/13|n.*124C>A|||||314|,A|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|3/11|n.*65C>A|||||65|,A|upstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.-1C>A|||||337|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000469722|retained_intron||n.*1186C>A|||||4221|,A|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|3/10|n.*65C>A||||||,A|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000452228|nonsense_mediated_decay|4/5|n.*157C>A||||||,A|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|5/13|n.*124C>A||||||,A|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|3/11|n.*65C>A|||||| 22 21377325 . G A . . ANN=A|splice_donor_variant&intron_variant|HIGH|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding|5/11|c.557+1G>A||||||,A|splice_donor_variant&intron_variant|HIGH|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding|3/9|c.*88+1G>A||||||,A|splice_donor_variant&intron_variant|HIGH|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|3/9|n.*88+1G>A||||||,A|splice_donor_variant&intron_variant|HIGH|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding|5/11|c.527+1G>A||||||,A|splice_donor_variant&intron_variant|HIGH|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding|5/11|c.479+1G>A||||||,A|splice_donor_variant&intron_variant|HIGH|P2RX6|ENSG00000099957|transcript|ENST00000452228|nonsense_mediated_decay|4/4|n.*180+1G>A||||||,A|splice_donor_variant&intron_variant|HIGH|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding|5/12|c.398+1G>A||||||,A|splice_donor_variant&intron_variant|HIGH|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|5/12|n.*147+1G>A||||||,A|splice_donor_variant&intron_variant|HIGH|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|3/10|n.*88+1G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|3/12|c.479+1G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|8/12|c.479+1G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|10/12|c.479+1G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|6/12|c.479+1G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|7/12|c.479+1G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|9/12|c.479+1G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|4/12|c.479+1G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|5/12|c.479+1G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|2/12|c.479+1G>A||||||,A|upstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.-1G>A|||||313|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000469722|retained_intron||n.*1186G>A|||||4245|;LOF=(P2RX6|ENSG00000099957|12|0.42) 22 21377334 . C T . . ANN=T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|3/12|c.479+10C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|8/12|c.479+10C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|10/12|c.479+10C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|6/12|c.479+10C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|7/12|c.479+10C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|9/12|c.479+10C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|4/12|c.479+10C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|5/12|c.479+10C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|2/12|c.479+10C>T||||||,T|upstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.-1C>T|||||304|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000469722|retained_intron||n.*1186C>T|||||4254|,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding|5/11|c.557+10C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding|3/9|c.*88+10C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|3/9|n.*88+10C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding|5/11|c.527+10C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding|5/11|c.479+10C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000452228|nonsense_mediated_decay|4/4|n.*180+10C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding|5/12|c.398+10C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|5/12|n.*147+10C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|3/10|n.*88+10C>T|||||| 22 21377358 . C T . . ANN=T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|3/12|c.479+34C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|8/12|c.479+34C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|10/12|c.479+34C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|6/12|c.479+34C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|7/12|c.479+34C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|9/12|c.479+34C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|4/12|c.479+34C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|5/12|c.479+34C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|2/12|c.479+34C>T||||||,T|upstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.-1C>T|||||280|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000469722|retained_intron||n.*1186C>T|||||4278|,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding|5/11|c.557+34C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding|3/9|c.*88+34C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|3/9|n.*88+34C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding|5/11|c.527+34C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding|5/11|c.479+34C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000452228|nonsense_mediated_decay|4/4|n.*180+34C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding|5/12|c.398+34C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|5/12|n.*147+34C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|3/10|n.*88+34C>T|||||| 22 21377542 . T C . . ANN=C|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|3/12|c.561-22T>C||||||,C|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|8/12|c.561-22T>C||||||,C|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|10/12|c.561-22T>C||||||,C|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|6/12|c.561-22T>C||||||,C|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|7/12|c.561-22T>C||||||,C|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|9/12|c.561-22T>C||||||,C|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|4/12|c.561-22T>C||||||,C|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|5/12|c.561-22T>C||||||,C|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|2/12|c.561-22T>C||||||,C|upstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.-1T>C|||||96|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000469722|retained_intron||n.*1186T>C|||||4462|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000452228|nonsense_mediated_decay||n.*361T>C|||||101|,C|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding|6/11|c.639-22T>C||||||,C|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding|4/9|c.*170-22T>C||||||,C|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|4/9|n.*170-22T>C||||||,C|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding|6/11|c.609-22T>C||||||,C|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding|6/11|c.561-22T>C||||||,C|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding|6/12|c.480-22T>C||||||,C|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|6/12|n.*229-22T>C||||||,C|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|4/10|n.*170-22T>C|||||| 22 21377636 . C T . . ANN=T|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding|7/12|c.711C>T|p.Tyr237Tyr|859/3687|711/1326|237/441||,T|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding|7/12|c.681C>T|p.Tyr227Tyr|726/3554|681/1296|227/431||,T|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding|7/12|c.633C>T|p.Tyr211Tyr|638/1834|633/1248|211/415||,T|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding|7/13|c.552C>T|p.Tyr184Tyr|694/2149|552/1167|184/388||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|3/12|c.633C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|8/12|c.633C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|10/12|c.633C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|6/12|c.633C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|7/12|c.633C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|9/12|c.633C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|4/12|c.633C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|5/12|c.633C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|2/12|c.633C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|disulfide_bond|ENST00000401443|protein_coding|7/12|c.633C>T||||||,T|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding|5/10|c.*242C>T|||||400|,T|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|5/10|n.*242C>T|||||400|,T|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|7/13|n.*301C>T|||||649|,T|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|5/11|n.*242C>T|||||400|,T|upstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.-1C>T|||||2|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000469722|retained_intron||n.*1186C>T|||||4556|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000452228|nonsense_mediated_decay||n.*361C>T|||||195|,T|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|5/10|n.*242C>T||||||,T|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|7/13|n.*301C>T||||||,T|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|5/11|n.*242C>T|||||| 22 21377643 . G A . . ANN=A|missense_variant|MODERATE|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding|7/12|c.718G>A|p.Val240Met|866/3687|718/1326|240/441||,A|missense_variant|MODERATE|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding|7/12|c.688G>A|p.Val230Met|733/3554|688/1296|230/431||,A|missense_variant|MODERATE|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding|7/12|c.640G>A|p.Val214Met|645/1834|640/1248|214/415||,A|missense_variant|MODERATE|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding|7/13|c.559G>A|p.Val187Met|701/2149|559/1167|187/388||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|3/12|c.640G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|8/12|c.640G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|10/12|c.640G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|6/12|c.640G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|7/12|c.640G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|9/12|c.640G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|4/12|c.640G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|5/12|c.640G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|2/12|c.640G>A||||||,A|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding|5/10|c.*249G>A|||||407|,A|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|5/10|n.*249G>A|||||407|,A|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|7/13|n.*308G>A|||||656|,A|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|5/11|n.*249G>A|||||407|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000469722|retained_intron||n.*1186G>A|||||4563|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000452228|nonsense_mediated_decay||n.*361G>A|||||202|,A|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|5/10|n.*249G>A||||||,A|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|7/13|n.*308G>A||||||,A|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|5/11|n.*249G>A||||||,A|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron|1/5|n.6G>A|||||| 22 21377650 . G A . . ANN=A|missense_variant|MODERATE|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding|7/12|c.725G>A|p.Arg242His|873/3687|725/1326|242/441||,A|missense_variant|MODERATE|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding|7/12|c.695G>A|p.Arg232His|740/3554|695/1296|232/431||,A|missense_variant|MODERATE|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding|7/12|c.647G>A|p.Arg216His|652/1834|647/1248|216/415||,A|missense_variant|MODERATE|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding|7/13|c.566G>A|p.Arg189His|708/2149|566/1167|189/388||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|3/12|c.647G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|8/12|c.647G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|10/12|c.647G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|6/12|c.647G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|7/12|c.647G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|9/12|c.647G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|4/12|c.647G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|5/12|c.647G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|2/12|c.647G>A||||||,A|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding|5/10|c.*256G>A|||||414|,A|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|5/10|n.*256G>A|||||414|,A|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|7/13|n.*315G>A|||||663|,A|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|5/11|n.*256G>A|||||414|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000469722|retained_intron||n.*1186G>A|||||4570|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000452228|nonsense_mediated_decay||n.*361G>A|||||209|,A|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|5/10|n.*256G>A||||||,A|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|7/13|n.*315G>A||||||,A|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|5/11|n.*256G>A||||||,A|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron|1/5|n.13G>A|||||| 22 21377712 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding|7/11|c.780+7C>T||||||,T|splice_region_variant&intron_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding|5/9|c.*311+7C>T||||||,T|splice_region_variant&intron_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|5/9|n.*311+7C>T||||||,T|splice_region_variant&intron_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding|7/11|c.750+7C>T||||||,T|splice_region_variant&intron_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding|7/11|c.702+7C>T||||||,T|splice_region_variant&intron_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding|7/12|c.621+7C>T||||||,T|splice_region_variant&intron_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|7/12|n.*370+7C>T||||||,T|splice_region_variant&intron_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|5/10|n.*311+7C>T||||||,T|splice_region_variant&intron_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron|1/4|n.68+7C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|3/12|c.702+7C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|8/12|c.702+7C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|10/12|c.702+7C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|6/12|c.702+7C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|7/12|c.702+7C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|9/12|c.702+7C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|4/12|c.702+7C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|5/12|c.702+7C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|2/12|c.702+7C>T||||||,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000469722|retained_intron||n.*1186C>T|||||4632|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000452228|nonsense_mediated_decay||n.*361C>T|||||271| 22 21377842 . C T . . ANN=T|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding|8/12|c.825C>T|p.Asp275Asp|973/3687|825/1326|275/441||,T|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding|8/12|c.795C>T|p.Asp265Asp|840/3554|795/1296|265/431||,T|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding|8/12|c.747C>T|p.Asp249Asp|752/1834|747/1248|249/415||,T|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding|8/13|c.666C>T|p.Asp222Asp|808/2149|666/1167|222/388||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|3/12|c.747C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|8/12|c.747C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|10/12|c.747C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|6/12|c.747C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|7/12|c.747C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|9/12|c.747C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|4/12|c.747C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|5/12|c.747C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|2/12|c.747C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|disulfide_bond|ENST00000401443|protein_coding|8/12|c.747C>T||||||,T|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding|6/10|c.*356C>T|||||606|,T|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|6/10|n.*356C>T|||||606|,T|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|8/13|n.*415C>T|||||855|,T|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|6/11|n.*356C>T|||||606|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000469722|retained_intron||n.*1186C>T|||||4762|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000452228|nonsense_mediated_decay||n.*361C>T|||||401|,T|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|6/10|n.*356C>T||||||,T|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|8/13|n.*415C>T||||||,T|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|6/11|n.*356C>T||||||,T|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron|2/5|n.113C>T|||||| 22 21377943 . G A . . ANN=A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|3/12|c.812+36G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|8/12|c.812+36G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|10/12|c.812+36G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|6/12|c.812+36G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|7/12|c.812+36G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|9/12|c.812+36G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|4/12|c.812+36G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|5/12|c.812+36G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|2/12|c.812+36G>A||||||,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000469722|retained_intron||n.*1186G>A|||||4863|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000452228|nonsense_mediated_decay||n.*361G>A|||||502|,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding|8/11|c.890+36G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding|6/9|c.*421+36G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|6/9|n.*421+36G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding|8/11|c.860+36G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding|8/11|c.812+36G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding|8/12|c.731+36G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|8/12|n.*480+36G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|6/10|n.*421+36G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron|2/4|n.178+36G>A|||||| 22 21377949 . C T . . ANN=T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|3/12|c.812+42C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|8/12|c.812+42C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|10/12|c.812+42C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|6/12|c.812+42C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|7/12|c.812+42C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|9/12|c.812+42C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|4/12|c.812+42C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|5/12|c.812+42C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|2/12|c.812+42C>T||||||,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000469722|retained_intron||n.*1186C>T|||||4869|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000452228|nonsense_mediated_decay||n.*361C>T|||||508|,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding|8/11|c.890+42C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding|6/9|c.*421+42C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|6/9|n.*421+42C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding|8/11|c.860+42C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding|8/11|c.812+42C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding|8/12|c.731+42C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|8/12|n.*480+42C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|6/10|n.*421+42C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron|2/4|n.178+42C>T|||||| 22 21377953 . C T . . ANN=T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|3/12|c.812+46C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|8/12|c.812+46C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|10/12|c.812+46C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|6/12|c.812+46C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|7/12|c.812+46C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|9/12|c.812+46C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|4/12|c.812+46C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|5/12|c.812+46C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|2/12|c.812+46C>T||||||,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000469722|retained_intron||n.*1186C>T|||||4873|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000452228|nonsense_mediated_decay||n.*361C>T|||||512|,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding|8/11|c.890+46C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding|6/9|c.*421+46C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|6/9|n.*421+46C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding|8/11|c.860+46C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding|8/11|c.812+46C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding|8/12|c.731+46C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|8/12|n.*480+46C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|6/10|n.*421+46C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron|2/4|n.178+46C>T|||||| 22 21380048 . G A . . ANN=A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|3/12|c.813-46G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|8/12|c.813-46G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|10/12|c.813-46G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|6/12|c.813-46G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|7/12|c.813-46G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|9/12|c.813-46G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|4/12|c.813-46G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|5/12|c.813-46G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|2/12|c.813-46G>A||||||,A|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding||c.*1976C>T|||||2959|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000452228|nonsense_mediated_decay||n.*361G>A|||||2607|,A|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding||c.*1970C>T|||||2959|,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding|8/11|c.891-46G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding|6/9|c.*422-46G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|6/9|n.*422-46G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding|8/11|c.861-46G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding|8/11|c.813-46G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding|8/12|c.732-46G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|8/12|n.*481-46G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|6/10|n.*422-46G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron|2/4|n.179-46G>A|||||| 22 21380064 . G A . . ANN=A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|3/12|c.813-30G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|8/12|c.813-30G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|10/12|c.813-30G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|6/12|c.813-30G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|7/12|c.813-30G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|9/12|c.813-30G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|4/12|c.813-30G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|5/12|c.813-30G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|2/12|c.813-30G>A||||||,A|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding||c.*1976C>T|||||2943|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000452228|nonsense_mediated_decay||n.*361G>A|||||2623|,A|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding||c.*1970C>T|||||2943|,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding|8/11|c.891-30G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding|6/9|c.*422-30G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|6/9|n.*422-30G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding|8/11|c.861-30G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding|8/11|c.813-30G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding|8/12|c.732-30G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|8/12|n.*481-30G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|6/10|n.*422-30G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron|2/4|n.179-30G>A|||||| 22 21380118 . A G . . ANN=G|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding|9/12|c.915A>G|p.Gln305Gln|1063/3687|915/1326|305/441||,G|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding|9/12|c.885A>G|p.Gln295Gln|930/3554|885/1296|295/431||,G|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding|9/12|c.837A>G|p.Gln279Gln|842/1834|837/1248|279/415||,G|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding|9/13|c.756A>G|p.Gln252Gln|898/2149|756/1167|252/388||,G|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|3/12|c.837A>G||||||,G|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|8/12|c.837A>G||||||,G|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|10/12|c.837A>G||||||,G|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|6/12|c.837A>G||||||,G|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|7/12|c.837A>G||||||,G|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|9/12|c.837A>G||||||,G|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|4/12|c.837A>G||||||,G|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|5/12|c.837A>G||||||,G|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|2/12|c.837A>G||||||,G|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding|7/10|c.*446A>G|||||2882|,G|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|7/10|n.*446A>G|||||2882|,G|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|9/13|n.*505A>G|||||3131|,G|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|7/11|n.*446A>G|||||2882|,G|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding||c.*1976T>C|||||2889|,G|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000452228|nonsense_mediated_decay||n.*361A>G|||||2677|,G|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding||c.*1970T>C|||||2889|,G|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|7/10|n.*446A>G||||||,G|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|9/13|n.*505A>G||||||,G|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|7/11|n.*446A>G||||||,G|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron|3/5|n.203A>G|||||| 22 21380181 . C T . . ANN=T|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding|9/12|c.978C>T|p.Thr326Thr|1126/3687|978/1326|326/441||,T|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding|9/12|c.948C>T|p.Thr316Thr|993/3554|948/1296|316/431||,T|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding|9/12|c.900C>T|p.Thr300Thr|905/1834|900/1248|300/415||,T|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding|9/13|c.819C>T|p.Thr273Thr|961/2149|819/1167|273/388||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|3/12|c.900C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|8/12|c.900C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|10/12|c.900C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|6/12|c.900C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|7/12|c.900C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|9/12|c.900C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|4/12|c.900C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|5/12|c.900C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|2/12|c.900C>T||||||,T|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding|7/10|c.*509C>T|||||2945|,T|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|7/10|n.*509C>T|||||2945|,T|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|9/13|n.*568C>T|||||3194|,T|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|7/11|n.*509C>T|||||2945|,T|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding||c.*1976G>A|||||2826|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000452228|nonsense_mediated_decay||n.*361C>T|||||2740|,T|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding||c.*1970G>A|||||2826|,T|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|7/10|n.*509C>T||||||,T|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|9/13|n.*568C>T||||||,T|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|7/11|n.*509C>T||||||,T|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron|3/5|n.266C>T|||||| 22 21380207 . A T . . ANN=T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|3/12|c.906+20A>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|8/12|c.906+20A>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|10/12|c.906+20A>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|6/12|c.906+20A>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|7/12|c.906+20A>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|9/12|c.906+20A>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|4/12|c.906+20A>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|5/12|c.906+20A>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|2/12|c.906+20A>T||||||,T|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding||c.*1976T>A|||||2800|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000452228|nonsense_mediated_decay||n.*361A>T|||||2766|,T|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding||c.*1970T>A|||||2800|,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding|9/11|c.984+20A>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding|7/9|c.*515+20A>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|7/9|n.*515+20A>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding|9/11|c.954+20A>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding|9/11|c.906+20A>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding|9/12|c.825+20A>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|9/12|n.*574+20A>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|7/10|n.*515+20A>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron|3/4|n.272+20A>T|||||| 22 21380227 . C T . . ANN=T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|3/12|c.906+40C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|8/12|c.906+40C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|10/12|c.906+40C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|6/12|c.906+40C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|7/12|c.906+40C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|9/12|c.906+40C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|4/12|c.906+40C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|5/12|c.906+40C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|2/12|c.906+40C>T||||||,T|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding||c.*1976G>A|||||2780|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000452228|nonsense_mediated_decay||n.*361C>T|||||2786|,T|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding||c.*1970G>A|||||2780|,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding|9/11|c.984+40C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding|7/9|c.*515+40C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|7/9|n.*515+40C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding|9/11|c.954+40C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding|9/11|c.906+40C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding|9/12|c.825+40C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|9/12|n.*574+40C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|7/10|n.*515+40C>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron|3/4|n.272+40C>T|||||| 22 21380236 . A G . . ANN=G|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|3/12|c.906+49A>G||||||,G|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|8/12|c.906+49A>G||||||,G|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|10/12|c.906+49A>G||||||,G|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|6/12|c.906+49A>G||||||,G|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|7/12|c.906+49A>G||||||,G|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|9/12|c.906+49A>G||||||,G|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|4/12|c.906+49A>G||||||,G|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|5/12|c.906+49A>G||||||,G|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|2/12|c.906+49A>G||||||,G|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding||c.*1976T>C|||||2771|,G|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000452228|nonsense_mediated_decay||n.*361A>G|||||2795|,G|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding||c.*1970T>C|||||2771|,G|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding|9/11|c.984+49A>G||||||,G|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding|7/9|c.*515+49A>G||||||,G|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|7/9|n.*515+49A>G||||||,G|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding|9/11|c.954+49A>G||||||,G|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding|9/11|c.906+49A>G||||||,G|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding|9/12|c.825+49A>G||||||,G|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|9/12|n.*574+49A>G||||||,G|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|7/10|n.*515+49A>G||||||,G|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron|3/4|n.272+49A>G|||||| 22 21380311 . C T . . ANN=T|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding|10/12|c.996C>T|p.Phe332Phe|1144/3687|996/1326|332/441||,T|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding|10/12|c.966C>T|p.Phe322Phe|1011/3554|966/1296|322/431||,T|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding|10/12|c.918C>T|p.Phe306Phe|923/1834|918/1248|306/415||,T|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding|10/13|c.837C>T|p.Phe279Phe|979/2149|837/1167|279/388||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|3/12|c.918C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|8/12|c.918C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|10/12|c.918C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|6/12|c.918C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|7/12|c.918C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|9/12|c.918C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|4/12|c.918C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|5/12|c.918C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|2/12|c.918C>T||||||,T|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding|8/10|c.*527C>T|||||3075|,T|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|8/10|n.*527C>T|||||3075|,T|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|10/13|n.*586C>T|||||3324|,T|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|8/11|n.*527C>T|||||3075|,T|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding||c.*1976G>A|||||2696|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000452228|nonsense_mediated_decay||n.*361C>T|||||2870|,T|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding||c.*1970G>A|||||2696|,T|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|8/10|n.*527C>T||||||,T|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|10/13|n.*586C>T||||||,T|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|8/11|n.*527C>T||||||,T|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron|4/5|n.284C>T|||||| 22 21380344 . C T . . ANN=T|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding|10/12|c.1029C>T|p.Thr343Thr|1177/3687|1029/1326|343/441||,T|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding|10/12|c.999C>T|p.Thr333Thr|1044/3554|999/1296|333/431||,T|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding|10/12|c.951C>T|p.Thr317Thr|956/1834|951/1248|317/415||,T|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding|10/13|c.870C>T|p.Thr290Thr|1012/2149|870/1167|290/388||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|transmembrane_region:Transmembrane_region|ENST00000401443|protein_coding|10/12|c.951C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|transmembrane_region:Transmembrane_region|ENST00000401443|protein_coding|11/12|c.951C>T||||||,T|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding|8/10|c.*560C>T|||||3108|,T|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|8/10|n.*560C>T|||||3108|,T|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|10/13|n.*619C>T|||||3357|,T|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|8/11|n.*560C>T|||||3108|,T|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding||c.*1976G>A|||||2663|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000452228|nonsense_mediated_decay||n.*361C>T|||||2903|,T|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding||c.*1970G>A|||||2663|,T|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|8/10|n.*560C>T||||||,T|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|10/13|n.*619C>T||||||,T|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|8/11|n.*560C>T||||||,T|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron|4/5|n.317C>T|||||| 22 21380379 . C CT . . ANN=T|sequence_feature|LOW|P2RX6|ENSG00000099957|transmembrane_region:Transmembrane_region|ENST00000401443|protein_coding|10/12|c.972+14_972+15insT||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|transmembrane_region:Transmembrane_region|ENST00000401443|protein_coding|11/12|c.972+14_972+15insT||||||,T|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding||c.*1976dupA|||||2627|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000452228|nonsense_mediated_decay||n.*361_*361insT|||||2939|,T|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding||c.*1970dupA|||||2627|,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding|10/11|c.1050+15dupT||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding|8/9|c.*581+15dupT||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|8/9|n.*581+15dupT||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding|10/11|c.1020+15dupT||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding|10/11|c.972+15dupT||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding|10/12|c.891+15dupT||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|10/12|n.*640+15dupT||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|8/10|n.*581+15dupT||||||INFO_REALIGN_3_PRIME,T|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron|4/5|n.353dupT||||||INFO_REALIGN_3_PRIME 22 21380629 . G T . . ANN=T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Cytoplasmic|ENST00000401443|protein_coding|11/12|c.1050+11G>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Cytoplasmic|ENST00000401443|protein_coding|12/12|c.1050+11G>T||||||,T|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding||c.*1976C>A|||||2378|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000452228|nonsense_mediated_decay||n.*361G>T|||||3188|,T|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding||c.*1970C>A|||||2378|,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding|11/11|c.1128+11G>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding|9/9|c.*659+11G>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|9/9|n.*659+11G>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding|11/11|c.1098+11G>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding|11/11|c.1050+11G>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding|11/12|c.969+11G>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|11/12|n.*718+11G>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|9/10|n.*659+11G>T||||||,T|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron|4/4|n.591+11G>T|||||| 22 21380732 . C T . . ANN=T|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding|12/12|c.1152C>T|p.Ala384Ala|1300/3687|1152/1326|384/441||,T|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding|12/12|c.1122C>T|p.Ala374Ala|1167/3554|1122/1296|374/431||,T|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding|12/12|c.1074C>T|p.Ala358Ala|1079/1834|1074/1248|358/415||,T|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding|12/13|c.993C>T|p.Ala331Ala|1135/2149|993/1167|331/388||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Cytoplasmic|ENST00000401443|protein_coding|11/12|c.1074C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Cytoplasmic|ENST00000401443|protein_coding|12/12|c.1074C>T||||||,T|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding|10/10|c.*683C>T|||||3496|,T|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|10/10|n.*683C>T|||||3496|,T|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|12/13|n.*742C>T|||||3745|,T|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|10/11|n.*683C>T|||||3496|,T|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1C>T|||||4914|,T|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding||c.*1976G>A|||||2275|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000452228|nonsense_mediated_decay||n.*361C>T|||||3291|,T|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding||c.*1970G>A|||||2275|,T|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|10/10|n.*683C>T||||||,T|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|12/13|n.*742C>T||||||,T|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|10/11|n.*683C>T||||||,T|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron|5/5|n.615C>T|||||| 22 21380745 . A C . . ANN=C|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding|12/12|c.1165A>C|p.Arg389Arg|1313/3687|1165/1326|389/441||,C|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding|12/12|c.1135A>C|p.Arg379Arg|1180/3554|1135/1296|379/431||,C|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding|12/12|c.1087A>C|p.Arg363Arg|1092/1834|1087/1248|363/415||,C|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding|12/13|c.1006A>C|p.Arg336Arg|1148/2149|1006/1167|336/388||,C|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Cytoplasmic|ENST00000401443|protein_coding|11/12|c.1087A>C||||||,C|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Cytoplasmic|ENST00000401443|protein_coding|12/12|c.1087A>C||||||,C|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding|10/10|c.*696A>C|||||3509|,C|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|10/10|n.*696A>C|||||3509|,C|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|12/13|n.*755A>C|||||3758|,C|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|10/11|n.*696A>C|||||3509|,C|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1A>C|||||4901|,C|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding||c.*1976T>G|||||2262|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000452228|nonsense_mediated_decay||n.*361A>C|||||3304|,C|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding||c.*1970T>G|||||2262|,C|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|10/10|n.*696A>C||||||,C|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|12/13|n.*755A>C||||||,C|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|10/11|n.*696A>C||||||,C|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron|5/5|n.628A>C|||||| 22 21380795 . G A . . ANN=A|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding|12/12|c.1215G>A|p.Arg405Arg|1363/3687|1215/1326|405/441||,A|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding|12/12|c.1185G>A|p.Arg395Arg|1230/3554|1185/1296|395/431||,A|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding|12/12|c.1137G>A|p.Arg379Arg|1142/1834|1137/1248|379/415||,A|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding|12/13|c.1056G>A|p.Arg352Arg|1198/2149|1056/1167|352/388||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Cytoplasmic|ENST00000401443|protein_coding|11/12|c.1137G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Cytoplasmic|ENST00000401443|protein_coding|12/12|c.1137G>A||||||,A|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding|10/10|c.*746G>A|||||3559|,A|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|10/10|n.*746G>A|||||3559|,A|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|12/13|n.*805G>A|||||3808|,A|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|10/11|n.*746G>A|||||3559|,A|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1G>A|||||4851|,A|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding||c.*1976C>T|||||2212|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000452228|nonsense_mediated_decay||n.*361G>A|||||3354|,A|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding||c.*1970C>T|||||2212|,A|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|10/10|n.*746G>A||||||,A|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|12/13|n.*805G>A||||||,A|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|10/11|n.*746G>A||||||,A|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron|5/5|n.678G>A|||||| 22 21380810 . A G . . ANN=G|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding|12/12|c.1230A>G|p.Ala410Ala|1378/3687|1230/1326|410/441||,G|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding|12/12|c.1200A>G|p.Ala400Ala|1245/3554|1200/1296|400/431||,G|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding|12/12|c.1152A>G|p.Ala384Ala|1157/1834|1152/1248|384/415||,G|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding|12/13|c.1071A>G|p.Ala357Ala|1213/2149|1071/1167|357/388||,G|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Cytoplasmic|ENST00000401443|protein_coding|11/12|c.1152A>G||||||,G|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Cytoplasmic|ENST00000401443|protein_coding|12/12|c.1152A>G||||||,G|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding|10/10|c.*761A>G|||||3574|,G|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|10/10|n.*761A>G|||||3574|,G|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|12/13|n.*820A>G|||||3823|,G|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|10/11|n.*761A>G|||||3574|,G|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1A>G|||||4836|,G|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding||c.*1976T>C|||||2197|,G|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000452228|nonsense_mediated_decay||n.*361A>G|||||3369|,G|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding||c.*1970T>C|||||2197|,G|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|10/10|n.*761A>G||||||,G|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|12/13|n.*820A>G||||||,G|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|10/11|n.*761A>G||||||,G|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron|5/5|n.693A>G|||||| 22 21380895 . G A . . ANN=A|missense_variant|MODERATE|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding|12/12|c.1315G>A|p.Gly439Arg|1463/3687|1315/1326|439/441||,A|missense_variant|MODERATE|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding|12/12|c.1285G>A|p.Gly429Arg|1330/3554|1285/1296|429/431||,A|missense_variant|MODERATE|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding|12/12|c.1237G>A|p.Gly413Arg|1242/1834|1237/1248|413/415||,A|missense_variant|MODERATE|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding|12/13|c.1156G>A|p.Gly386Arg|1298/2149|1156/1167|386/388||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Cytoplasmic|ENST00000401443|protein_coding|11/12|c.1237G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Cytoplasmic|ENST00000401443|protein_coding|12/12|c.1237G>A||||||,A|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding|10/10|c.*846G>A|||||3659|,A|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|10/10|n.*846G>A|||||3659|,A|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|12/13|n.*905G>A|||||3908|,A|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|10/11|n.*846G>A|||||3659|,A|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1G>A|||||4751|,A|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding||c.*1976C>T|||||2112|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000452228|nonsense_mediated_decay||n.*361G>A|||||3454|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769G>A|||||9|,A|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding||c.*1970C>T|||||2112|,A|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416C>T|||||4962|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|10/10|n.*846G>A||||||,A|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|12/13|n.*905G>A||||||,A|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|10/11|n.*846G>A|||||| 22 21380900 . C T . . ANN=T|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding|12/12|c.1320C>T|p.Ser440Ser|1468/3687|1320/1326|440/441||,T|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding|12/12|c.1290C>T|p.Ser430Ser|1335/3554|1290/1296|430/431||,T|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding|12/12|c.1242C>T|p.Ser414Ser|1247/1834|1242/1248|414/415||,T|synonymous_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding|12/13|c.1161C>T|p.Ser387Ser|1303/2149|1161/1167|387/388||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Cytoplasmic|ENST00000401443|protein_coding|11/12|c.1242C>T||||||,T|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Cytoplasmic|ENST00000401443|protein_coding|12/12|c.1242C>T||||||,T|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding|10/10|c.*851C>T|||||3664|,T|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|10/10|n.*851C>T|||||3664|,T|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|12/13|n.*910C>T|||||3913|,T|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|10/11|n.*851C>T|||||3664|,T|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1C>T|||||4746|,T|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding||c.*1976G>A|||||2107|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000452228|nonsense_mediated_decay||n.*361C>T|||||3459|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769C>T|||||14|,T|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding||c.*1970G>A|||||2107|,T|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416G>A|||||4957|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|10/10|n.*851C>T||||||,T|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|12/13|n.*910C>T||||||,T|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|10/11|n.*851C>T|||||| 22 21380908 . C G . . ANN=G|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding|12/12|c.*2C>G|||||2|,G|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding|10/10|c.*859C>G|||||3672|,G|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|10/10|n.*859C>G|||||3672|,G|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding|12/12|c.*2C>G|||||2|,G|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding|12/12|c.*2C>G|||||2|,G|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding|12/13|c.*2C>G|||||2|,G|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|12/13|n.*918C>G|||||3921|,G|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|10/11|n.*859C>G|||||3672|,G|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1C>G|||||4738|,G|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding||c.*1976G>C|||||2099|,G|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000452228|nonsense_mediated_decay||n.*361C>G|||||3467|,G|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769C>G|||||22|,G|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding||c.*1970G>C|||||2099|,G|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416G>C|||||4949|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|10/10|n.*859C>G||||||,G|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|12/13|n.*918C>G||||||,G|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|10/11|n.*859C>G|||||| 22 21383312 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|5/5|c.*32C>T|||||32|,A|3_prime_UTR_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|5/5|c.*32C>T|||||32|,A|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1G>A|||||2334|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474G>A|||||193|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265G>A|||||1016|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265G>A|||||1015|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341G>A|||||193|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253G>A|||||1825|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309G>A|||||1016|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393G>A|||||1015|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306G>A|||||1010|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769G>A|||||2426|,A|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416C>T|||||2545|WARNING_TRANSCRIPT_INCOMPLETE 22 21383322 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|5/5|c.*22C>T|||||22|,A|3_prime_UTR_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|5/5|c.*22C>T|||||22|,A|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1G>A|||||2324|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474G>A|||||203|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265G>A|||||1026|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265G>A|||||1025|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341G>A|||||203|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253G>A|||||1835|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309G>A|||||1026|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393G>A|||||1025|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306G>A|||||1020|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769G>A|||||2436|,A|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416C>T|||||2535|WARNING_TRANSCRIPT_INCOMPLETE 22 21383341 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|5/5|c.*3G>A|||||3|,T|3_prime_UTR_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|5/5|c.*3G>A|||||3|,T|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1C>T|||||2305|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474C>T|||||222|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265C>T|||||1045|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265C>T|||||1044|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341C>T|||||222|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253C>T|||||1854|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309C>T|||||1045|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393C>T|||||1044|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306C>T|||||1039|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769C>T|||||2455|,T|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416G>A|||||2516|WARNING_TRANSCRIPT_INCOMPLETE 22 21383420 . C T . . ANN=T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|5/5|c.1832G>A|p.Gly611Asp|1900/2313|1832/1908|611/635||,T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|5/5|c.1832G>A|p.Gly611Asp|1894/2307|1832/1908|611/635||,T|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1C>T|||||2226|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474C>T|||||301|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265C>T|||||1124|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265C>T|||||1123|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341C>T|||||301|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253C>T|||||1933|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309C>T|||||1124|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393C>T|||||1123|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306C>T|||||1118|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769C>T|||||2534|,T|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416G>A|||||2437|WARNING_TRANSCRIPT_INCOMPLETE 22 21383429 . A T . . ANN=T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|5/5|c.1823T>A|p.Phe608Tyr|1891/2313|1823/1908|608/635||,T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|5/5|c.1823T>A|p.Phe608Tyr|1885/2307|1823/1908|608/635||,T|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1A>T|||||2217|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474A>T|||||310|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265A>T|||||1133|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265A>T|||||1132|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341A>T|||||310|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253A>T|||||1942|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309A>T|||||1133|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393A>T|||||1132|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306A>T|||||1127|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769A>T|||||2543|,T|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416T>A|||||2428|WARNING_TRANSCRIPT_INCOMPLETE 22 21383541 . G A . . ANN=A|sequence_feature|LOW|SLC7A4|ENSG00000099960|transmembrane_region:Transmembrane_region|ENST00000403586|protein_coding|5/5|c.1733-22C>T||||||,A|sequence_feature|LOW|SLC7A4|ENSG00000099960|transmembrane_region:Transmembrane_region|ENST00000403586|protein_coding|4/5|c.1733-22C>T||||||,A|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1G>A|||||2105|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474G>A|||||422|,A|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97C>T|||||4924|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265G>A|||||1245|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265G>A|||||1244|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341G>A|||||422|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253G>A|||||2054|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309G>A|||||1245|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393G>A|||||1244|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306G>A|||||1239|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769G>A|||||2655|,A|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416C>T|||||2316|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|4/4|c.1733-22C>T||||||,A|intron_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|4/4|c.1733-22C>T|||||| 22 21383604 . C T . . ANN=T|sequence_feature|LOW|SLC7A4|ENSG00000099960|transmembrane_region:Transmembrane_region|ENST00000403586|protein_coding|5/5|c.1732+21G>A||||||,T|sequence_feature|LOW|SLC7A4|ENSG00000099960|transmembrane_region:Transmembrane_region|ENST00000403586|protein_coding|4/5|c.1732+21G>A||||||,T|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1C>T|||||2042|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474C>T|||||485|,T|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97G>A|||||4861|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265C>T|||||1308|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265C>T|||||1307|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341C>T|||||485|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253C>T|||||2117|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309C>T|||||1308|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393C>T|||||1307|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306C>T|||||1302|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769C>T|||||2718|,T|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416G>A|||||2253|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|4/4|c.1732+21G>A||||||,T|intron_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|4/4|c.1732+21G>A|||||| 22 21383661 . G A . . ANN=A|synonymous_variant|LOW|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|4/5|c.1696C>T|p.Leu566Leu|1764/2313|1696/1908|566/635||,A|synonymous_variant|LOW|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|4/5|c.1696C>T|p.Leu566Leu|1758/2307|1696/1908|566/635||,A|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1G>A|||||1985|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474G>A|||||542|,A|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97C>T|||||4804|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265G>A|||||1365|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265G>A|||||1364|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341G>A|||||542|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253G>A|||||2174|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309G>A|||||1365|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393G>A|||||1364|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306G>A|||||1359|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769G>A|||||2775|,A|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416C>T|||||2196|WARNING_TRANSCRIPT_INCOMPLETE 22 21384017 . G T . . ANN=T|synonymous_variant|LOW|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|3/5|c.1606C>A|p.Arg536Arg|1674/2313|1606/1908|536/635||,T|synonymous_variant|LOW|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|3/5|c.1606C>A|p.Arg536Arg|1668/2307|1606/1908|536/635||,T|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1G>T|||||1629|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474G>T|||||898|,T|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97C>A|||||4448|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265G>T|||||1721|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265G>T|||||1720|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341G>T|||||898|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253G>T|||||2530|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309G>T|||||1721|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393G>T|||||1720|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306G>T|||||1715|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769G>T|||||3131|,T|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416C>A|||||1840|WARNING_TRANSCRIPT_INCOMPLETE 22 21384071 . T TG . . ANN=G|frameshift_variant|HIGH|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|3/5|c.1551dupC|p.Ser518fs|1619/2313|1551/1908|517/635||,G|frameshift_variant|HIGH|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|3/5|c.1551dupC|p.Ser518fs|1613/2307|1551/1908|517/635||,G|sequence_feature|LOW|SLC7A4|ENSG00000099960|transmembrane_region:Transmembrane_region|ENST00000403586|protein_coding|3/5|c.1551dupC||||||,G|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1_-1insG|||||1574|,G|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474_*1474insG|||||953|,G|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97dupC|||||4393|,G|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265_*265insG|||||1776|,G|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265_*265insG|||||1775|,G|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341_*1341insG|||||953|,G|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253_*1253insG|||||2585|,G|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309_*1309insG|||||1776|,G|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393_*393insG|||||1775|,G|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306_*306insG|||||1770|,G|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769_*769insG|||||3186|,G|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416dupC|||||1785|WARNING_TRANSCRIPT_INCOMPLETE;LOF=(SLC7A4|ENSG00000099960|3|0.67) 22 21384206 . T C . . ANN=C|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|3/5|c.1417A>G|p.Ser473Gly|1485/2313|1417/1908|473/635||,C|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|3/5|c.1417A>G|p.Ser473Gly|1479/2307|1417/1908|473/635||,C|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1T>C|||||1440|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474T>C|||||1087|,C|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97A>G|||||4259|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265T>C|||||1910|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265T>C|||||1909|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341T>C|||||1087|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253T>C|||||2719|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309T>C|||||1910|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393T>C|||||1909|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306T>C|||||1904|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769T>C|||||3320|,C|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416A>G|||||1651|WARNING_TRANSCRIPT_INCOMPLETE 22 21384275 . C T . . ANN=T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|3/5|c.1348G>A|p.Ala450Thr|1416/2313|1348/1908|450/635||,T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|3/5|c.1348G>A|p.Ala450Thr|1410/2307|1348/1908|450/635||,T|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1C>T|||||1371|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474C>T|||||1156|,T|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97G>A|||||4190|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265C>T|||||1979|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265C>T|||||1978|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341C>T|||||1156|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253C>T|||||2788|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309C>T|||||1979|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393C>T|||||1978|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306C>T|||||1973|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769C>T|||||3389|,T|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416G>A|||||1582|WARNING_TRANSCRIPT_INCOMPLETE 22 21384295 . T C . . ANN=C|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|3/5|c.1328A>G|p.Gln443Arg|1396/2313|1328/1908|443/635||,C|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|3/5|c.1328A>G|p.Gln443Arg|1390/2307|1328/1908|443/635||,C|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1T>C|||||1351|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474T>C|||||1176|,C|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97A>G|||||4170|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265T>C|||||1999|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265T>C|||||1998|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341T>C|||||1176|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253T>C|||||2808|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309T>C|||||1999|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393T>C|||||1998|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306T>C|||||1993|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769T>C|||||3409|,C|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416A>G|||||1562|WARNING_TRANSCRIPT_INCOMPLETE 22 21384318 . C A . . ANN=A|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|3/5|c.1305G>T|p.Gln435His|1373/2313|1305/1908|435/635||,A|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|3/5|c.1305G>T|p.Gln435His|1367/2307|1305/1908|435/635||,A|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1C>A|||||1328|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474C>A|||||1199|,A|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97G>T|||||4147|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265C>A|||||2022|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265C>A|||||2021|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341C>A|||||1199|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253C>A|||||2831|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309C>A|||||2022|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393C>A|||||2021|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306C>A|||||2016|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769C>A|||||3432|,A|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416G>T|||||1539|WARNING_TRANSCRIPT_INCOMPLETE 22 21384336 . G A . . ANN=A|synonymous_variant|LOW|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|3/5|c.1287C>T|p.Gly429Gly|1355/2313|1287/1908|429/635||,A|synonymous_variant|LOW|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|3/5|c.1287C>T|p.Gly429Gly|1349/2307|1287/1908|429/635||,A|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1G>A|||||1310|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474G>A|||||1217|,A|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97C>T|||||4129|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265G>A|||||2040|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265G>A|||||2039|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341G>A|||||1217|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253G>A|||||2849|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309G>A|||||2040|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393G>A|||||2039|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306G>A|||||2034|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769G>A|||||3450|,A|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416C>T|||||1521|WARNING_TRANSCRIPT_INCOMPLETE 22 21384374 . A T . . ANN=T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|3/5|c.1249T>A|p.Ser417Thr|1317/2313|1249/1908|417/635||,T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|3/5|c.1249T>A|p.Ser417Thr|1311/2307|1249/1908|417/635||,T|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1A>T|||||1272|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474A>T|||||1255|,T|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97T>A|||||4091|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265A>T|||||2078|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265A>T|||||2077|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341A>T|||||1255|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253A>T|||||2887|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309A>T|||||2078|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393A>T|||||2077|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306A>T|||||2072|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769A>T|||||3488|,T|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416T>A|||||1483|WARNING_TRANSCRIPT_INCOMPLETE 22 21384411 . G A . . ANN=A|synonymous_variant|LOW|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|3/5|c.1212C>T|p.Phe404Phe|1280/2313|1212/1908|404/635||,A|synonymous_variant|LOW|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|3/5|c.1212C>T|p.Phe404Phe|1274/2307|1212/1908|404/635||,A|sequence_feature|LOW|SLC7A4|ENSG00000099960|transmembrane_region:Transmembrane_region|ENST00000403586|protein_coding|3/5|c.1212C>T||||||,A|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1G>A|||||1235|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474G>A|||||1292|,A|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97C>T|||||4054|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265G>A|||||2115|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265G>A|||||2114|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341G>A|||||1292|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253G>A|||||2924|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309G>A|||||2115|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393G>A|||||2114|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306G>A|||||2109|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769G>A|||||3525|,A|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416C>T|||||1446|WARNING_TRANSCRIPT_INCOMPLETE 22 21384470 . G A . . ANN=A|synonymous_variant|LOW|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|3/5|c.1153C>T|p.Leu385Leu|1221/2313|1153/1908|385/635||,A|synonymous_variant|LOW|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|3/5|c.1153C>T|p.Leu385Leu|1215/2307|1153/1908|385/635||,A|sequence_feature|LOW|SLC7A4|ENSG00000099960|transmembrane_region:Transmembrane_region|ENST00000403586|protein_coding|3/5|c.1153C>T||||||,A|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1G>A|||||1176|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474G>A|||||1351|,A|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97C>T|||||3995|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265G>A|||||2174|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265G>A|||||2173|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341G>A|||||1351|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253G>A|||||2983|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309G>A|||||2174|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393G>A|||||2173|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306G>A|||||2168|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769G>A|||||3584|,A|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416C>T|||||1387|WARNING_TRANSCRIPT_INCOMPLETE 22 21384475 . A C . . ANN=C|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|3/5|c.1148T>G|p.Leu383Arg|1216/2313|1148/1908|383/635||,C|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|3/5|c.1148T>G|p.Leu383Arg|1210/2307|1148/1908|383/635||,C|sequence_feature|LOW|SLC7A4|ENSG00000099960|transmembrane_region:Transmembrane_region|ENST00000403586|protein_coding|3/5|c.1148T>G||||||,C|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1A>C|||||1171|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474A>C|||||1356|,C|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97T>G|||||3990|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265A>C|||||2179|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265A>C|||||2178|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341A>C|||||1356|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253A>C|||||2988|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309A>C|||||2179|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393A>C|||||2178|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306A>C|||||2173|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769A>C|||||3589|,C|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416T>G|||||1382|WARNING_TRANSCRIPT_INCOMPLETE 22 21384490 . G A . . ANN=A|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|3/5|c.1133C>T|p.Thr378Met|1201/2313|1133/1908|378/635||,A|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|3/5|c.1133C>T|p.Thr378Met|1195/2307|1133/1908|378/635||,A|sequence_feature|LOW|SLC7A4|ENSG00000099960|transmembrane_region:Transmembrane_region|ENST00000403586|protein_coding|3/5|c.1133C>T||||||,A|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1G>A|||||1156|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474G>A|||||1371|,A|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97C>T|||||3975|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265G>A|||||2194|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265G>A|||||2193|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341G>A|||||1371|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253G>A|||||3003|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309G>A|||||2194|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393G>A|||||2193|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306G>A|||||2188|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769G>A|||||3604|,A|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416C>T|||||1367|WARNING_TRANSCRIPT_INCOMPLETE 22 21384516 . C T . . ANN=T|synonymous_variant|LOW|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|3/5|c.1107G>A|p.Ala369Ala|1175/2313|1107/1908|369/635||,T|synonymous_variant|LOW|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|3/5|c.1107G>A|p.Ala369Ala|1169/2307|1107/1908|369/635||,T|sequence_feature|LOW|SLC7A4|ENSG00000099960|transmembrane_region:Transmembrane_region|ENST00000403586|protein_coding|3/5|c.1107G>A||||||,T|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1C>T|||||1130|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474C>T|||||1397|,T|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97G>A|||||3949|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265C>T|||||2220|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265C>T|||||2219|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341C>T|||||1397|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253C>T|||||3029|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309C>T|||||2220|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393C>T|||||2219|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306C>T|||||2214|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769C>T|||||3630|,T|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416G>A|||||1341|WARNING_TRANSCRIPT_INCOMPLETE 22 21384532 . G T . . ANN=T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|3/5|c.1091C>A|p.Thr364Lys|1159/2313|1091/1908|364/635||,T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|3/5|c.1091C>A|p.Thr364Lys|1153/2307|1091/1908|364/635||,T|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1G>T|||||1114|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474G>T|||||1413|,T|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97C>A|||||3933|,T|downstream_gene_variant|MODIFIER|P2RX6P|ENSG00000206145|transcript|ENST00000439119|processed_transcript||n.*468C>A|||||5000|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265G>T|||||2236|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265G>T|||||2235|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341G>T|||||1413|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253G>T|||||3045|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309G>T|||||2236|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393G>T|||||2235|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306G>T|||||2230|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769G>T|||||3646|,T|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416C>A|||||1325|WARNING_TRANSCRIPT_INCOMPLETE 22 21384578 . C T . . ANN=T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|3/5|c.1045G>A|p.Ala349Thr|1113/2313|1045/1908|349/635||,T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|3/5|c.1045G>A|p.Ala349Thr|1107/2307|1045/1908|349/635||,T|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1C>T|||||1068|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474C>T|||||1459|,T|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97G>A|||||3887|,T|downstream_gene_variant|MODIFIER|P2RX6P|ENSG00000206145|transcript|ENST00000439119|processed_transcript||n.*468G>A|||||4954|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265C>T|||||2282|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265C>T|||||2281|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341C>T|||||1459|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253C>T|||||3091|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309C>T|||||2282|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393C>T|||||2281|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306C>T|||||2276|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769C>T|||||3692|,T|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416G>A|||||1279|WARNING_TRANSCRIPT_INCOMPLETE 22 21384598 . C T . . ANN=T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|3/5|c.1025G>A|p.Arg342His|1093/2313|1025/1908|342/635||,T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|3/5|c.1025G>A|p.Arg342His|1087/2307|1025/1908|342/635||,T|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1C>T|||||1048|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474C>T|||||1479|,T|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97G>A|||||3867|,T|downstream_gene_variant|MODIFIER|P2RX6P|ENSG00000206145|transcript|ENST00000439119|processed_transcript||n.*468G>A|||||4934|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265C>T|||||2302|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265C>T|||||2301|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341C>T|||||1479|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253C>T|||||3111|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309C>T|||||2302|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393C>T|||||2301|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306C>T|||||2296|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769C>T|||||3712|,T|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416G>A|||||1259|WARNING_TRANSCRIPT_INCOMPLETE 22 21385191 . G T . . ANN=T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|2/5|c.911C>A|p.Ala304Glu|979/2313|911/1908|304/635||,T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|2/5|c.911C>A|p.Ala304Glu|973/2307|911/1908|304/635||,T|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1G>T|||||455|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474G>T|||||2072|,T|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97C>A|||||3274|,T|downstream_gene_variant|MODIFIER|P2RX6P|ENSG00000206145|transcript|ENST00000439119|processed_transcript||n.*468C>A|||||4341|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265G>T|||||2895|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265G>T|||||2894|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341G>T|||||2072|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253G>T|||||3704|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309G>T|||||2895|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393G>T|||||2894|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306G>T|||||2889|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769G>T|||||4305|,T|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416C>A|||||666|WARNING_TRANSCRIPT_INCOMPLETE 22 21385196 . G A . . ANN=A|synonymous_variant|LOW|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|2/5|c.906C>T|p.Asp302Asp|974/2313|906/1908|302/635||,A|synonymous_variant|LOW|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|2/5|c.906C>T|p.Asp302Asp|968/2307|906/1908|302/635||,A|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1G>A|||||450|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474G>A|||||2077|,A|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97C>T|||||3269|,A|downstream_gene_variant|MODIFIER|P2RX6P|ENSG00000206145|transcript|ENST00000439119|processed_transcript||n.*468C>T|||||4336|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265G>A|||||2900|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265G>A|||||2899|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341G>A|||||2077|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253G>A|||||3709|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309G>A|||||2900|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393G>A|||||2899|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306G>A|||||2894|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769G>A|||||4310|,A|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416C>T|||||661|WARNING_TRANSCRIPT_INCOMPLETE 22 21385201 . G T . . ANN=T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|2/5|c.901C>A|p.Pro301Thr|969/2313|901/1908|301/635||,T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|2/5|c.901C>A|p.Pro301Thr|963/2307|901/1908|301/635||,T|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1G>T|||||445|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474G>T|||||2082|,T|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97C>A|||||3264|,T|downstream_gene_variant|MODIFIER|P2RX6P|ENSG00000206145|transcript|ENST00000439119|processed_transcript||n.*468C>A|||||4331|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265G>T|||||2905|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265G>T|||||2904|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341G>T|||||2082|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253G>T|||||3714|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309G>T|||||2905|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393G>T|||||2904|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306G>T|||||2899|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769G>T|||||4315|,T|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416C>A|||||656|WARNING_TRANSCRIPT_INCOMPLETE 22 21385277 . C T . . ANN=T|synonymous_variant|LOW|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|2/5|c.825G>A|p.Ser275Ser|893/2313|825/1908|275/635||,T|synonymous_variant|LOW|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|2/5|c.825G>A|p.Ser275Ser|887/2307|825/1908|275/635||,T|sequence_feature|LOW|SLC7A4|ENSG00000099960|transmembrane_region:Transmembrane_region|ENST00000403586|protein_coding|2/5|c.825G>A||||||,T|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1C>T|||||369|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474C>T|||||2158|,T|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97G>A|||||3188|,T|downstream_gene_variant|MODIFIER|P2RX6P|ENSG00000206145|transcript|ENST00000439119|processed_transcript||n.*468G>A|||||4255|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265C>T|||||2981|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265C>T|||||2980|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341C>T|||||2158|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253C>T|||||3790|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309C>T|||||2981|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393C>T|||||2980|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306C>T|||||2975|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769C>T|||||4391|,T|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416G>A|||||580|WARNING_TRANSCRIPT_INCOMPLETE 22 21385349 . G A . . ANN=A|synonymous_variant|LOW|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|2/5|c.753C>T|p.Phe251Phe|821/2313|753/1908|251/635||,A|synonymous_variant|LOW|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|2/5|c.753C>T|p.Phe251Phe|815/2307|753/1908|251/635||,A|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1G>A|||||297|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474G>A|||||2230|,A|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97C>T|||||3116|,A|downstream_gene_variant|MODIFIER|P2RX6P|ENSG00000206145|transcript|ENST00000439119|processed_transcript||n.*468C>T|||||4183|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265G>A|||||3053|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265G>A|||||3052|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341G>A|||||2230|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253G>A|||||3862|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309G>A|||||3053|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393G>A|||||3052|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306G>A|||||3047|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769G>A|||||4463|,A|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416C>T|||||508|WARNING_TRANSCRIPT_INCOMPLETE 22 21385393 . C T . . ANN=T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|2/5|c.709G>A|p.Val237Ile|777/2313|709/1908|237/635||,T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|2/5|c.709G>A|p.Val237Ile|771/2307|709/1908|237/635||,T|sequence_feature|LOW|SLC7A4|ENSG00000099960|transmembrane_region:Transmembrane_region|ENST00000403586|protein_coding|2/5|c.709G>A||||||,T|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1C>T|||||253|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474C>T|||||2274|,T|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97G>A|||||3072|,T|downstream_gene_variant|MODIFIER|P2RX6P|ENSG00000206145|transcript|ENST00000439119|processed_transcript||n.*468G>A|||||4139|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265C>T|||||3097|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265C>T|||||3096|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341C>T|||||2274|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253C>T|||||3906|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309C>T|||||3097|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393C>T|||||3096|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306C>T|||||3091|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769C>T|||||4507|,T|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416G>A|||||464|WARNING_TRANSCRIPT_INCOMPLETE 22 21385420 . C T . . ANN=T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|2/5|c.682G>A|p.Gly228Ser|750/2313|682/1908|228/635||,T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|2/5|c.682G>A|p.Gly228Ser|744/2307|682/1908|228/635||,T|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1C>T|||||226|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474C>T|||||2301|,T|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97G>A|||||3045|,T|downstream_gene_variant|MODIFIER|P2RX6P|ENSG00000206145|transcript|ENST00000439119|processed_transcript||n.*468G>A|||||4112|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265C>T|||||3124|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265C>T|||||3123|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341C>T|||||2301|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253C>T|||||3933|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309C>T|||||3124|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393C>T|||||3123|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306C>T|||||3118|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769C>T|||||4534|,T|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416G>A|||||437|WARNING_TRANSCRIPT_INCOMPLETE 22 21385427 . G C . . ANN=C|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|2/5|c.675C>G|p.Asp225Glu|743/2313|675/1908|225/635||,C|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|2/5|c.675C>G|p.Asp225Glu|737/2307|675/1908|225/635||,C|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1G>C|||||219|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474G>C|||||2308|,C|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97C>G|||||3038|,C|downstream_gene_variant|MODIFIER|P2RX6P|ENSG00000206145|transcript|ENST00000439119|processed_transcript||n.*468C>G|||||4105|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265G>C|||||3131|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265G>C|||||3130|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341G>C|||||2308|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253G>C|||||3940|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309G>C|||||3131|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393G>C|||||3130|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306G>C|||||3125|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769G>C|||||4541|,C|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416C>G|||||430|WARNING_TRANSCRIPT_INCOMPLETE 22 21385533 . A C . . ANN=C|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|2/5|c.569T>G|p.Val190Gly|637/2313|569/1908|190/635||,C|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|2/5|c.569T>G|p.Val190Gly|631/2307|569/1908|190/635||,C|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1A>C|||||113|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474A>C|||||2414|,C|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97T>G|||||2932|,C|downstream_gene_variant|MODIFIER|P2RX6P|ENSG00000206145|transcript|ENST00000439119|processed_transcript||n.*468T>G|||||3999|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265A>C|||||3237|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265A>C|||||3236|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341A>C|||||2414|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253A>C|||||4046|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309A>C|||||3237|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393A>C|||||3236|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306A>C|||||3231|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769A>C|||||4647|,C|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416T>G|||||324|WARNING_TRANSCRIPT_INCOMPLETE 22 21385730 . G C . . ANN=C|synonymous_variant|LOW|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|2/5|c.372C>G|p.Leu124Leu|440/2313|372/1908|124/635||,C|synonymous_variant|LOW|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|2/5|c.372C>G|p.Leu124Leu|434/2307|372/1908|124/635||,C|sequence_feature|LOW|SLC7A4|ENSG00000099960|transmembrane_region:Transmembrane_region|ENST00000403586|protein_coding|2/5|c.372C>G||||||,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474G>C|||||2611|,C|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97C>G|||||2735|,C|downstream_gene_variant|MODIFIER|P2RX6P|ENSG00000206145|transcript|ENST00000439119|processed_transcript||n.*468C>G|||||3802|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265G>C|||||3434|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265G>C|||||3433|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341G>C|||||2611|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253G>C|||||4243|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309G>C|||||3434|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393G>C|||||3433|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306G>C|||||3428|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769G>C|||||4844|,C|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416C>G|||||127|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense|1/3|n.85G>C|||||| 22 21385769 . G A . . ANN=A|synonymous_variant|LOW|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|2/5|c.333C>T|p.Gly111Gly|401/2313|333/1908|111/635||,A|synonymous_variant|LOW|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|2/5|c.333C>T|p.Gly111Gly|395/2307|333/1908|111/635||,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474G>A|||||2650|,A|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97C>T|||||2696|,A|downstream_gene_variant|MODIFIER|P2RX6P|ENSG00000206145|transcript|ENST00000439119|processed_transcript||n.*468C>T|||||3763|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265G>A|||||3473|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265G>A|||||3472|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341G>A|||||2650|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253G>A|||||4282|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309G>A|||||3473|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393G>A|||||3472|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306G>A|||||3467|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769G>A|||||4883|,A|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416C>T|||||88|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense|1/3|n.124G>A|||||| 22 21385770 . C T . . ANN=T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|2/5|c.332G>A|p.Gly111Asp|400/2313|332/1908|111/635||,T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|2/5|c.332G>A|p.Gly111Asp|394/2307|332/1908|111/635||,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474C>T|||||2651|,T|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97G>A|||||2695|,T|downstream_gene_variant|MODIFIER|P2RX6P|ENSG00000206145|transcript|ENST00000439119|processed_transcript||n.*468G>A|||||3762|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265C>T|||||3474|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265C>T|||||3473|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341C>T|||||2651|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253C>T|||||4283|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309C>T|||||3474|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393C>T|||||3473|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306C>T|||||3468|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769C>T|||||4884|,T|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416G>A|||||87|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense|1/3|n.125C>T|||||| 22 21385843 . G A . . ANN=A|synonymous_variant|LOW|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|2/5|c.259C>T|p.Leu87Leu|327/2313|259/1908|87/635||,A|synonymous_variant|LOW|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|2/5|c.259C>T|p.Leu87Leu|321/2307|259/1908|87/635||,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474G>A|||||2724|,A|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97C>T|||||2622|,A|downstream_gene_variant|MODIFIER|P2RX6P|ENSG00000206145|transcript|ENST00000439119|processed_transcript||n.*468C>T|||||3689|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265G>A|||||3547|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265G>A|||||3546|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341G>A|||||2724|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253G>A|||||4356|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309G>A|||||3547|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393G>A|||||3546|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306G>A|||||3541|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769G>A|||||4957|,A|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416C>T|||||14|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense|1/2|n.147+51G>A|||||| 22 21385876 . C T . . ANN=T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|2/5|c.226G>A|p.Gly76Ser|294/2313|226/1908|76/635||,T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|2/5|c.226G>A|p.Gly76Ser|288/2307|226/1908|76/635||,T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding|2/2|c.226G>A|p.Gly76Ser|397/416|226/245|76/80||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|SLC7A4|ENSG00000099960|transmembrane_region:Transmembrane_region|ENST00000403586|protein_coding|2/5|c.226G>A||||||,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474C>T|||||2757|,T|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97G>A|||||2589|,T|downstream_gene_variant|MODIFIER|P2RX6P|ENSG00000206145|transcript|ENST00000439119|processed_transcript||n.*468G>A|||||3656|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265C>T|||||3580|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265C>T|||||3579|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341C>T|||||2757|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253C>T|||||4389|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309C>T|||||3580|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393C>T|||||3579|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306C>T|||||3574|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769C>T|||||4990|,T|intron_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense|1/2|n.147+84C>T|||||| 22 21385907 . C T . . ANN=T|synonymous_variant|LOW|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|2/5|c.195G>A|p.Glu65Glu|263/2313|195/1908|65/635||,T|synonymous_variant|LOW|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|2/5|c.195G>A|p.Glu65Glu|257/2307|195/1908|65/635||,T|synonymous_variant|LOW|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding|2/2|c.195G>A|p.Glu65Glu|366/416|195/245|65/80||WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474C>T|||||2788|,T|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97G>A|||||2558|,T|downstream_gene_variant|MODIFIER|P2RX6P|ENSG00000206145|transcript|ENST00000439119|processed_transcript||n.*468G>A|||||3625|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265C>T|||||3611|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265C>T|||||3610|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341C>T|||||2788|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253C>T|||||4420|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309C>T|||||3611|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393C>T|||||3610|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306C>T|||||3605|,T|intron_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense|1/2|n.147+115C>T|||||| 22 21385918 . C T . . ANN=T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|2/5|c.184G>A|p.Val62Met|252/2313|184/1908|62/635||,T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|2/5|c.184G>A|p.Val62Met|246/2307|184/1908|62/635||,T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding|2/2|c.184G>A|p.Val62Met|355/416|184/245|62/80||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|SLC7A4|ENSG00000099960|transmembrane_region:Transmembrane_region|ENST00000403586|protein_coding|2/5|c.184G>A||||||,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474C>T|||||2799|,T|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97G>A|||||2547|,T|downstream_gene_variant|MODIFIER|P2RX6P|ENSG00000206145|transcript|ENST00000439119|processed_transcript||n.*468G>A|||||3614|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265C>T|||||3622|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265C>T|||||3621|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341C>T|||||2799|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253C>T|||||4431|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309C>T|||||3622|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393C>T|||||3621|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306C>T|||||3616|,T|intron_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense|1/2|n.147+126C>T|||||| 22 21385919 . G A . . ANN=A|synonymous_variant|LOW|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|2/5|c.183C>T|p.Ala61Ala|251/2313|183/1908|61/635||,A|synonymous_variant|LOW|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|2/5|c.183C>T|p.Ala61Ala|245/2307|183/1908|61/635||,A|synonymous_variant|LOW|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding|2/2|c.183C>T|p.Ala61Ala|354/416|183/245|61/80||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|SLC7A4|ENSG00000099960|transmembrane_region:Transmembrane_region|ENST00000403586|protein_coding|2/5|c.183C>T||||||,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474G>A|||||2800|,A|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97C>T|||||2546|,A|downstream_gene_variant|MODIFIER|P2RX6P|ENSG00000206145|transcript|ENST00000439119|processed_transcript||n.*468C>T|||||3613|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265G>A|||||3623|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265G>A|||||3622|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341G>A|||||2800|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253G>A|||||4432|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309G>A|||||3623|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393G>A|||||3622|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306G>A|||||3617|,A|intron_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense|1/2|n.147+127G>A|||||| 22 21385954 . T C . . ANN=C|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|2/5|c.148A>G|p.Met50Val|216/2313|148/1908|50/635||,C|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|2/5|c.148A>G|p.Met50Val|210/2307|148/1908|50/635||,C|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding|2/2|c.148A>G|p.Met50Val|319/416|148/245|50/80||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|SLC7A4|ENSG00000099960|transmembrane_region:Transmembrane_region|ENST00000403586|protein_coding|2/5|c.148A>G||||||,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474T>C|||||2835|,C|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97A>G|||||2511|,C|downstream_gene_variant|MODIFIER|P2RX6P|ENSG00000206145|transcript|ENST00000439119|processed_transcript||n.*468A>G|||||3578|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265T>C|||||3658|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265T>C|||||3657|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341T>C|||||2835|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253T>C|||||4467|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309T>C|||||3658|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393T>C|||||3657|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306T>C|||||3652|,C|intron_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense|1/2|n.147+162T>C|||||| 22 21385961 . C T . . ANN=T|synonymous_variant|LOW|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|2/5|c.141G>A|p.Val47Val|209/2313|141/1908|47/635||,T|synonymous_variant|LOW|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|2/5|c.141G>A|p.Val47Val|203/2307|141/1908|47/635||,T|synonymous_variant|LOW|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding|2/2|c.141G>A|p.Val47Val|312/416|141/245|47/80||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|SLC7A4|ENSG00000099960|transmembrane_region:Transmembrane_region|ENST00000403586|protein_coding|2/5|c.141G>A||||||,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474C>T|||||2842|,T|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97G>A|||||2504|,T|downstream_gene_variant|MODIFIER|P2RX6P|ENSG00000206145|transcript|ENST00000439119|processed_transcript||n.*468G>A|||||3571|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265C>T|||||3665|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265C>T|||||3664|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341C>T|||||2842|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253C>T|||||4474|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309C>T|||||3665|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393C>T|||||3664|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306C>T|||||3659|,T|intron_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense|1/2|n.147+169C>T|||||| 22 21385964 . G A . . ANN=A|synonymous_variant|LOW|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|2/5|c.138C>T|p.Gly46Gly|206/2313|138/1908|46/635||,A|synonymous_variant|LOW|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|2/5|c.138C>T|p.Gly46Gly|200/2307|138/1908|46/635||,A|synonymous_variant|LOW|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding|2/2|c.138C>T|p.Gly46Gly|309/416|138/245|46/80||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|SLC7A4|ENSG00000099960|transmembrane_region:Transmembrane_region|ENST00000403586|protein_coding|2/5|c.138C>T||||||,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474G>A|||||2845|,A|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97C>T|||||2501|,A|downstream_gene_variant|MODIFIER|P2RX6P|ENSG00000206145|transcript|ENST00000439119|processed_transcript||n.*468C>T|||||3568|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265G>A|||||3668|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265G>A|||||3667|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341G>A|||||2845|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253G>A|||||4477|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309G>A|||||3668|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393G>A|||||3667|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306G>A|||||3662|,A|intron_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense|1/2|n.147+172G>A|||||| 22 21385985 . C T . . ANN=T|synonymous_variant|LOW|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|2/5|c.117G>A|p.Thr39Thr|185/2313|117/1908|39/635||,T|synonymous_variant|LOW|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|2/5|c.117G>A|p.Thr39Thr|179/2307|117/1908|39/635||,T|synonymous_variant|LOW|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding|2/2|c.117G>A|p.Thr39Thr|288/416|117/245|39/80||WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474C>T|||||2866|,T|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97G>A|||||2480|,T|downstream_gene_variant|MODIFIER|P2RX6P|ENSG00000206145|transcript|ENST00000439119|processed_transcript||n.*468G>A|||||3547|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265C>T|||||3689|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265C>T|||||3688|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341C>T|||||2866|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253C>T|||||4498|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309C>T|||||3689|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393C>T|||||3688|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306C>T|||||3683|,T|intron_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense|1/2|n.147+193C>T|||||| 22 21386019 . G A . . ANN=A|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|2/5|c.83C>T|p.Thr28Ile|151/2313|83/1908|28/635||,A|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|2/5|c.83C>T|p.Thr28Ile|145/2307|83/1908|28/635||,A|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding|2/2|c.83C>T|p.Thr28Ile|254/416|83/245|28/80||WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474G>A|||||2900|,A|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97C>T|||||2446|,A|downstream_gene_variant|MODIFIER|P2RX6P|ENSG00000206145|transcript|ENST00000439119|processed_transcript||n.*468C>T|||||3513|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265G>A|||||3723|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265G>A|||||3722|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341G>A|||||2900|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253G>A|||||4532|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309G>A|||||3723|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393G>A|||||3722|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306G>A|||||3717|,A|intron_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense|1/2|n.147+227G>A|||||| 22 21386029 . CCAG C . . ANN=|inframe_deletion|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|2/5|c.70_72delCTG|p.Leu24del|140/2313|70/1908|24/635||,|inframe_deletion|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|2/5|c.70_72delCTG|p.Leu24del|134/2307|70/1908|24/635||,|inframe_deletion|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding|2/2|c.70_72delCTG|p.Leu24del|243/416|70/245|24/80||WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474_*1474delCAG|||||2911|,|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97_*97delCTG|||||2435|,|downstream_gene_variant|MODIFIER|P2RX6P|ENSG00000206145|transcript|ENST00000439119|processed_transcript||n.*468_*468delCTG|||||3502|,|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265_*265delCAG|||||3734|,|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265_*265delCAG|||||3733|,|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341_*1341delCAG|||||2911|,|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253_*1253delCAG|||||4543|,|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309_*1309delCAG|||||3734|,|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393_*393delCAG|||||3733|,|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306_*306delCAG|||||3728|,|intron_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense|1/2|n.147+239_147+241delAGC||||||INFO_REALIGN_3_PRIME 22 21386079 . A G . . ANN=G|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|2/5|c.23T>C|p.Ile8Thr|91/2313|23/1908|8/635||,G|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|2/5|c.23T>C|p.Ile8Thr|85/2307|23/1908|8/635||,G|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding|2/2|c.23T>C|p.Ile8Thr|194/416|23/245|8/80||WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474A>G|||||2960|,G|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97T>C|||||2386|,G|downstream_gene_variant|MODIFIER|P2RX6P|ENSG00000206145|transcript|ENST00000439119|processed_transcript||n.*468T>C|||||3453|,G|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265A>G|||||3783|,G|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265A>G|||||3782|,G|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341A>G|||||2960|,G|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253A>G|||||4592|,G|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309A>G|||||3783|,G|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393A>G|||||3782|,G|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306A>G|||||3777|,G|intron_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense|1/2|n.147+287A>G|||||| 22 21386095 . G A . . ANN=A|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|2/5|c.7C>T|p.Arg3Trp|75/2313|7/1908|3/635||,A|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|2/5|c.7C>T|p.Arg3Trp|69/2307|7/1908|3/635||,A|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding|2/2|c.7C>T|p.Arg3Trp|178/416|7/245|3/80||WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474G>A|||||2976|,A|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97C>T|||||2370|,A|downstream_gene_variant|MODIFIER|P2RX6P|ENSG00000206145|transcript|ENST00000439119|processed_transcript||n.*468C>T|||||3437|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265G>A|||||3799|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265G>A|||||3798|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341G>A|||||2976|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253G>A|||||4608|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309G>A|||||3799|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393G>A|||||3798|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306G>A|||||3793|,A|intron_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense|1/2|n.147+303G>A|||||| 22 21386112 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|2/5|c.-11G>A|||||11|,T|5_prime_UTR_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|2/5|c.-11G>A|||||11|,T|5_prime_UTR_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding|2/2|c.-11G>A|||||11|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474C>T|||||2993|,T|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97G>A|||||2353|,T|downstream_gene_variant|MODIFIER|P2RX6P|ENSG00000206145|transcript|ENST00000439119|processed_transcript||n.*468G>A|||||3420|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265C>T|||||3816|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265C>T|||||3815|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341C>T|||||2993|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253C>T|||||4625|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309C>T|||||3816|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393C>T|||||3815|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306C>T|||||3810|,T|intron_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense|1/2|n.147+320C>T|||||| 22 21797101 . CG C . . ANN=|5_prime_UTR_variant|MODIFIER|HIC2|ENSG00000169635|transcript|ENST00000407464|protein_coding|2/3|c.-19delG|||||19|,|5_prime_UTR_variant|MODIFIER|HIC2|ENSG00000169635|transcript|ENST00000407598|protein_coding|2/3|c.-19delG|||||19|,|5_prime_UTR_variant|MODIFIER|HIC2|ENSG00000169635|transcript|ENST00000443632|protein_coding|1/2|c.-19delG|||||19| 22 21799232 . C T . . ANN=T|synonymous_variant|LOW|HIC2|ENSG00000169635|transcript|ENST00000407464|protein_coding|3/3|c.48C>T|p.Arg16Arg|278/6798|48/1848|16/615||,T|synonymous_variant|LOW|HIC2|ENSG00000169635|transcript|ENST00000407598|protein_coding|3/3|c.48C>T|p.Arg16Arg|243/4734|48/1848|16/615||,T|synonymous_variant|LOW|HIC2|ENSG00000169635|transcript|ENST00000443632|protein_coding|2/2|c.48C>T|p.Arg16Arg|420/6940|48/1848|16/615|| 22 21799251 . A G . . ANN=G|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000407464|protein_coding|3/3|c.67A>G|p.Met23Val|297/6798|67/1848|23/615||,G|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000407598|protein_coding|3/3|c.67A>G|p.Met23Val|262/4734|67/1848|23/615||,G|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000443632|protein_coding|2/2|c.67A>G|p.Met23Val|439/6940|67/1848|23/615|| 22 21799325 . C T . . ANN=T|synonymous_variant|LOW|HIC2|ENSG00000169635|transcript|ENST00000407464|protein_coding|3/3|c.141C>T|p.Asp47Asp|371/6798|141/1848|47/615||,T|synonymous_variant|LOW|HIC2|ENSG00000169635|transcript|ENST00000407598|protein_coding|3/3|c.141C>T|p.Asp47Asp|336/4734|141/1848|47/615||,T|synonymous_variant|LOW|HIC2|ENSG00000169635|transcript|ENST00000443632|protein_coding|2/2|c.141C>T|p.Asp47Asp|513/6940|141/1848|47/615||,T|sequence_feature|LOW|HIC2|ENSG00000169635|domain:BTB|ENST00000407598|protein_coding|3/3|c.141C>T|||||| 22 21799610 . C T . . ANN=T|synonymous_variant|LOW|HIC2|ENSG00000169635|transcript|ENST00000407464|protein_coding|3/3|c.426C>T|p.Ala142Ala|656/6798|426/1848|142/615||,T|synonymous_variant|LOW|HIC2|ENSG00000169635|transcript|ENST00000407598|protein_coding|3/3|c.426C>T|p.Ala142Ala|621/4734|426/1848|142/615||,T|synonymous_variant|LOW|HIC2|ENSG00000169635|transcript|ENST00000443632|protein_coding|2/2|c.426C>T|p.Ala142Ala|798/6940|426/1848|142/615|| 22 21799658 . G C . . ANN=C|synonymous_variant|LOW|HIC2|ENSG00000169635|transcript|ENST00000407464|protein_coding|3/3|c.474G>C|p.Arg158Arg|704/6798|474/1848|158/615||,C|synonymous_variant|LOW|HIC2|ENSG00000169635|transcript|ENST00000407598|protein_coding|3/3|c.474G>C|p.Arg158Arg|669/4734|474/1848|158/615||,C|synonymous_variant|LOW|HIC2|ENSG00000169635|transcript|ENST00000443632|protein_coding|2/2|c.474G>C|p.Arg158Arg|846/6940|474/1848|158/615|| 22 21799758 . C T . . ANN=T|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000407464|protein_coding|3/3|c.574C>T|p.Pro192Ser|804/6798|574/1848|192/615||,T|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000407598|protein_coding|3/3|c.574C>T|p.Pro192Ser|769/4734|574/1848|192/615||,T|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000443632|protein_coding|2/2|c.574C>T|p.Pro192Ser|946/6940|574/1848|192/615|| 22 21799870 . G T . . ANN=T|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000407464|protein_coding|3/3|c.686G>T|p.Gly229Val|916/6798|686/1848|229/615||,T|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000407598|protein_coding|3/3|c.686G>T|p.Gly229Val|881/4734|686/1848|229/615||,T|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000443632|protein_coding|2/2|c.686G>T|p.Gly229Val|1058/6940|686/1848|229/615|| 22 21799871 . C T . . ANN=T|synonymous_variant|LOW|HIC2|ENSG00000169635|transcript|ENST00000407464|protein_coding|3/3|c.687C>T|p.Gly229Gly|917/6798|687/1848|229/615||,T|synonymous_variant|LOW|HIC2|ENSG00000169635|transcript|ENST00000407598|protein_coding|3/3|c.687C>T|p.Gly229Gly|882/4734|687/1848|229/615||,T|synonymous_variant|LOW|HIC2|ENSG00000169635|transcript|ENST00000443632|protein_coding|2/2|c.687C>T|p.Gly229Gly|1059/6940|687/1848|229/615|| 22 21799889 . C T . . ANN=T|synonymous_variant|LOW|HIC2|ENSG00000169635|transcript|ENST00000407464|protein_coding|3/3|c.705C>T|p.Asn235Asn|935/6798|705/1848|235/615||,T|synonymous_variant|LOW|HIC2|ENSG00000169635|transcript|ENST00000407598|protein_coding|3/3|c.705C>T|p.Asn235Asn|900/4734|705/1848|235/615||,T|synonymous_variant|LOW|HIC2|ENSG00000169635|transcript|ENST00000443632|protein_coding|2/2|c.705C>T|p.Asn235Asn|1077/6940|705/1848|235/615|| 22 21799890 . G A . . ANN=A|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000407464|protein_coding|3/3|c.706G>A|p.Gly236Arg|936/6798|706/1848|236/615||,A|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000407598|protein_coding|3/3|c.706G>A|p.Gly236Arg|901/4734|706/1848|236/615||,A|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000443632|protein_coding|2/2|c.706G>A|p.Gly236Arg|1078/6940|706/1848|236/615|| 22 21799907 . C G . . ANN=G|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000407464|protein_coding|3/3|c.723C>G|p.Cys241Trp|953/6798|723/1848|241/615||,G|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000407598|protein_coding|3/3|c.723C>G|p.Cys241Trp|918/4734|723/1848|241/615||,G|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000443632|protein_coding|2/2|c.723C>G|p.Cys241Trp|1095/6940|723/1848|241/615|| 22 21800042 . T C . . ANN=C|synonymous_variant|LOW|HIC2|ENSG00000169635|transcript|ENST00000407464|protein_coding|3/3|c.858T>C|p.Ala286Ala|1088/6798|858/1848|286/615||,C|synonymous_variant|LOW|HIC2|ENSG00000169635|transcript|ENST00000407598|protein_coding|3/3|c.858T>C|p.Ala286Ala|1053/4734|858/1848|286/615||,C|synonymous_variant|LOW|HIC2|ENSG00000169635|transcript|ENST00000443632|protein_coding|2/2|c.858T>C|p.Ala286Ala|1230/6940|858/1848|286/615|| 22 21800043 . C T . . ANN=T|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000407464|protein_coding|3/3|c.859C>T|p.Pro287Ser|1089/6798|859/1848|287/615||,T|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000407598|protein_coding|3/3|c.859C>T|p.Pro287Ser|1054/4734|859/1848|287/615||,T|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000443632|protein_coding|2/2|c.859C>T|p.Pro287Ser|1231/6940|859/1848|287/615|| 22 21800049 . G A . . ANN=A|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000407464|protein_coding|3/3|c.865G>A|p.Val289Ile|1095/6798|865/1848|289/615||,A|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000407598|protein_coding|3/3|c.865G>A|p.Val289Ile|1060/4734|865/1848|289/615||,A|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000443632|protein_coding|2/2|c.865G>A|p.Val289Ile|1237/6940|865/1848|289/615|| 22 21800129 . C T . . ANN=T|synonymous_variant|LOW|HIC2|ENSG00000169635|transcript|ENST00000407464|protein_coding|3/3|c.945C>T|p.His315His|1175/6798|945/1848|315/615||,T|synonymous_variant|LOW|HIC2|ENSG00000169635|transcript|ENST00000407598|protein_coding|3/3|c.945C>T|p.His315His|1140/4734|945/1848|315/615||,T|synonymous_variant|LOW|HIC2|ENSG00000169635|transcript|ENST00000443632|protein_coding|2/2|c.945C>T|p.His315His|1317/6940|945/1848|315/615|| 22 21800180 . C T . . ANN=T|synonymous_variant|LOW|HIC2|ENSG00000169635|transcript|ENST00000407464|protein_coding|3/3|c.996C>T|p.His332His|1226/6798|996/1848|332/615||,T|synonymous_variant|LOW|HIC2|ENSG00000169635|transcript|ENST00000407598|protein_coding|3/3|c.996C>T|p.His332His|1191/4734|996/1848|332/615||,T|synonymous_variant|LOW|HIC2|ENSG00000169635|transcript|ENST00000443632|protein_coding|2/2|c.996C>T|p.His332His|1368/6940|996/1848|332/615|| 22 21800269 . C T . . ANN=T|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000407464|protein_coding|3/3|c.1085C>T|p.Pro362Leu|1315/6798|1085/1848|362/615||,T|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000407598|protein_coding|3/3|c.1085C>T|p.Pro362Leu|1280/4734|1085/1848|362/615||,T|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000443632|protein_coding|2/2|c.1085C>T|p.Pro362Leu|1457/6940|1085/1848|362/615|| 22 21800277 . G A . . ANN=A|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000407464|protein_coding|3/3|c.1093G>A|p.Glu365Lys|1323/6798|1093/1848|365/615||,A|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000407598|protein_coding|3/3|c.1093G>A|p.Glu365Lys|1288/4734|1093/1848|365/615||,A|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000443632|protein_coding|2/2|c.1093G>A|p.Glu365Lys|1465/6940|1093/1848|365/615|| 22 21800420 . C T . . ANN=T|synonymous_variant|LOW|HIC2|ENSG00000169635|transcript|ENST00000407464|protein_coding|3/3|c.1236C>T|p.Ser412Ser|1466/6798|1236/1848|412/615||,T|synonymous_variant|LOW|HIC2|ENSG00000169635|transcript|ENST00000407598|protein_coding|3/3|c.1236C>T|p.Ser412Ser|1431/4734|1236/1848|412/615||,T|synonymous_variant|LOW|HIC2|ENSG00000169635|transcript|ENST00000443632|protein_coding|2/2|c.1236C>T|p.Ser412Ser|1608/6940|1236/1848|412/615|| 22 21800438 . C T . . ANN=T|synonymous_variant|LOW|HIC2|ENSG00000169635|transcript|ENST00000407464|protein_coding|3/3|c.1254C>T|p.Ser418Ser|1484/6798|1254/1848|418/615||,T|synonymous_variant|LOW|HIC2|ENSG00000169635|transcript|ENST00000407598|protein_coding|3/3|c.1254C>T|p.Ser418Ser|1449/4734|1254/1848|418/615||,T|synonymous_variant|LOW|HIC2|ENSG00000169635|transcript|ENST00000443632|protein_coding|2/2|c.1254C>T|p.Ser418Ser|1626/6940|1254/1848|418/615|| 22 21800444 . T C . . ANN=C|synonymous_variant|LOW|HIC2|ENSG00000169635|transcript|ENST00000407464|protein_coding|3/3|c.1260T>C|p.His420His|1490/6798|1260/1848|420/615||,C|synonymous_variant|LOW|HIC2|ENSG00000169635|transcript|ENST00000407598|protein_coding|3/3|c.1260T>C|p.His420His|1455/4734|1260/1848|420/615||,C|synonymous_variant|LOW|HIC2|ENSG00000169635|transcript|ENST00000443632|protein_coding|2/2|c.1260T>C|p.His420His|1632/6940|1260/1848|420/615|| 22 21800456 . C T . . ANN=T|synonymous_variant|LOW|HIC2|ENSG00000169635|transcript|ENST00000407464|protein_coding|3/3|c.1272C>T|p.His424His|1502/6798|1272/1848|424/615||,T|synonymous_variant|LOW|HIC2|ENSG00000169635|transcript|ENST00000407598|protein_coding|3/3|c.1272C>T|p.His424His|1467/4734|1272/1848|424/615||,T|synonymous_variant|LOW|HIC2|ENSG00000169635|transcript|ENST00000443632|protein_coding|2/2|c.1272C>T|p.His424His|1644/6940|1272/1848|424/615|| 22 21800610 . G C . . ANN=C|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000407464|protein_coding|3/3|c.1426G>C|p.Ala476Pro|1656/6798|1426/1848|476/615||,C|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000407598|protein_coding|3/3|c.1426G>C|p.Ala476Pro|1621/4734|1426/1848|476/615||,C|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000443632|protein_coding|2/2|c.1426G>C|p.Ala476Pro|1798/6940|1426/1848|476/615|| 22 21800813 . G A . . ANN=A|synonymous_variant|LOW|HIC2|ENSG00000169635|transcript|ENST00000407464|protein_coding|3/3|c.1629G>A|p.Thr543Thr|1859/6798|1629/1848|543/615||,A|synonymous_variant|LOW|HIC2|ENSG00000169635|transcript|ENST00000407598|protein_coding|3/3|c.1629G>A|p.Thr543Thr|1824/4734|1629/1848|543/615||,A|synonymous_variant|LOW|HIC2|ENSG00000169635|transcript|ENST00000443632|protein_coding|2/2|c.1629G>A|p.Thr543Thr|2001/6940|1629/1848|543/615||,A|sequence_feature|LOW|HIC2|ENSG00000169635|zinc_finger_region:C2H2-type_3|ENST00000407598|protein_coding|3/3|c.1629G>A|||||| 22 21800967 . G A . . ANN=A|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000407464|protein_coding|3/3|c.1783G>A|p.Gly595Arg|2013/6798|1783/1848|595/615||,A|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000407598|protein_coding|3/3|c.1783G>A|p.Gly595Arg|1978/4734|1783/1848|595/615||,A|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000443632|protein_coding|2/2|c.1783G>A|p.Gly595Arg|2155/6940|1783/1848|595/615||,A|sequence_feature|LOW|HIC2|ENSG00000169635|zinc_finger_region:C2H2-type_5|ENST00000407598|protein_coding|3/3|c.1783G>A|||||| 22 21801047 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|HIC2|ENSG00000169635|transcript|ENST00000407464|protein_coding|3/3|c.*15C>T|||||15|,T|3_prime_UTR_variant|MODIFIER|HIC2|ENSG00000169635|transcript|ENST00000407598|protein_coding|3/3|c.*15C>T|||||15|,T|3_prime_UTR_variant|MODIFIER|HIC2|ENSG00000169635|transcript|ENST00000443632|protein_coding|2/2|c.*15C>T|||||15| 22 21922094 . G T . . ANN=T|sequence_feature|LOW|UBE2L3|ENSG00000185651|helix|ENST00000342192|protein_coding|1/4|c.27+34G>T||||||,T|sequence_feature|LOW|UBE2L3|ENSG00000185651|helix|ENST00000342192|protein_coding|2/4|c.27+34G>T||||||,T|intron_variant|MODIFIER|UBE2L3|ENSG00000185651|transcript|ENST00000458578|protein_coding|1/3|c.201+18155G>T||||||,T|intron_variant|MODIFIER|UBE2L3|ENSG00000185651|transcript|ENST00000342192|protein_coding|1/3|c.27+34G>T||||||,T|intron_variant|MODIFIER|UBE2L3|ENSG00000185651|transcript|ENST00000545681|protein_coding|1/2|c.27+34G>T||||||,T|non_coding_exon_variant|MODIFIER|UBE2L3|ENSG00000185651|transcript|ENST00000496722|retained_intron|1/4|n.76G>T|||||| 22 21947126 . C G . . ANN=G|sequence_feature|LOW|UBE2L3|ENSG00000185651|helix|ENST00000342192|protein_coding|1/4|c.28-24C>G||||||,G|sequence_feature|LOW|UBE2L3|ENSG00000185651|helix|ENST00000342192|protein_coding|2/4|c.28-24C>G||||||,G|intron_variant|MODIFIER|UBE2L3|ENSG00000185651|transcript|ENST00000458578|protein_coding|1/3|c.202-24C>G||||||,G|intron_variant|MODIFIER|UBE2L3|ENSG00000185651|transcript|ENST00000342192|protein_coding|1/3|c.28-24C>G||||||,G|intron_variant|MODIFIER|UBE2L3|ENSG00000185651|transcript|ENST00000496722|retained_intron|1/3|n.649-24C>G||||||,G|intron_variant|MODIFIER|UBE2L3|ENSG00000185651|transcript|ENST00000545681|protein_coding|1/2|c.28-18020C>G|||||| 22 21965359 . G A . . ANN=A|sequence_feature|LOW|UBE2L3|ENSG00000185651|helix|ENST00000458578|protein_coding|4/4|c.484+27G>A||||||,A|sequence_feature|LOW|UBE2L3|ENSG00000185651|helix|ENST00000458578|protein_coding|3/4|c.484+27G>A||||||,A|sequence_feature|LOW|UBE2L3|ENSG00000185651|helix|ENST00000342192|protein_coding|4/4|c.310+27G>A||||||,A|sequence_feature|LOW|UBE2L3|ENSG00000185651|helix|ENST00000342192|protein_coding|3/4|c.310+27G>A||||||,A|sequence_feature|LOW|UBE2L3|ENSG00000185651|helix|ENST00000545681|protein_coding|3/3|c.214+27G>A||||||,A|sequence_feature|LOW|UBE2L3|ENSG00000185651|helix|ENST00000545681|protein_coding|2/3|c.214+27G>A||||||,A|intron_variant|MODIFIER|UBE2L3|ENSG00000185651|transcript|ENST00000458578|protein_coding|3/3|c.484+27G>A||||||,A|intron_variant|MODIFIER|UBE2L3|ENSG00000185651|transcript|ENST00000342192|protein_coding|3/3|c.310+27G>A||||||,A|intron_variant|MODIFIER|UBE2L3|ENSG00000185651|transcript|ENST00000496722|retained_intron|3/3|n.931+27G>A||||||,A|intron_variant|MODIFIER|UBE2L3|ENSG00000185651|transcript|ENST00000545681|protein_coding|2/2|c.214+27G>A|||||| 22 21965378 . G T . . ANN=T|sequence_feature|LOW|UBE2L3|ENSG00000185651|helix|ENST00000458578|protein_coding|4/4|c.484+46G>T||||||,T|sequence_feature|LOW|UBE2L3|ENSG00000185651|helix|ENST00000458578|protein_coding|3/4|c.484+46G>T||||||,T|sequence_feature|LOW|UBE2L3|ENSG00000185651|helix|ENST00000342192|protein_coding|4/4|c.310+46G>T||||||,T|sequence_feature|LOW|UBE2L3|ENSG00000185651|helix|ENST00000342192|protein_coding|3/4|c.310+46G>T||||||,T|sequence_feature|LOW|UBE2L3|ENSG00000185651|helix|ENST00000545681|protein_coding|3/3|c.214+46G>T||||||,T|sequence_feature|LOW|UBE2L3|ENSG00000185651|helix|ENST00000545681|protein_coding|2/3|c.214+46G>T||||||,T|intron_variant|MODIFIER|UBE2L3|ENSG00000185651|transcript|ENST00000458578|protein_coding|3/3|c.484+46G>T||||||,T|intron_variant|MODIFIER|UBE2L3|ENSG00000185651|transcript|ENST00000342192|protein_coding|3/3|c.310+46G>T||||||,T|intron_variant|MODIFIER|UBE2L3|ENSG00000185651|transcript|ENST00000496722|retained_intron|3/3|n.931+46G>T||||||,T|intron_variant|MODIFIER|UBE2L3|ENSG00000185651|transcript|ENST00000545681|protein_coding|2/2|c.214+46G>T|||||| 22 21982809 . G T . . ANN=T|synonymous_variant|LOW|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding|5/5|c.870C>A|p.Gly290Gly|920/1351|870/972|290/323||,T|3_prime_UTR_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay|5/5|n.*518C>A|||||860|,T|3_prime_UTR_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding|4/4|c.*242C>A|||||242|,T|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding||c.-162G>T|||||4209|,T|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding||c.-175G>T|||||4196|,T|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.-115G>T|||||4198|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|UBE2L3|ENSG00000185651|transcript|ENST00000342192|protein_coding||c.*663G>T|||||4486|,T|downstream_gene_variant|MODIFIER|UBE2L3|ENSG00000185651|transcript|ENST00000496722|retained_intron||n.*3451G>T|||||4486|,T|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron|3/3|n.1182C>A||||||,T|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron|2/2|n.992C>A||||||,T|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay|5/5|n.*518C>A||||||,T|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron|4/4|n.1088C>A||||||,T|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron|4/4|n.990C>A|||||| 22 21982892 . C T . . ANN=T|missense_variant|MODERATE|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding|5/5|c.787G>A|p.Ala263Thr|837/1351|787/972|263/323||,T|3_prime_UTR_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay|5/5|n.*435G>A|||||777|,T|3_prime_UTR_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding|4/4|c.*159G>A|||||159|,T|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding||c.-162C>T|||||4126|,T|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding||c.-175C>T|||||4113|,T|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.-115C>T|||||4115|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|UBE2L3|ENSG00000185651|transcript|ENST00000342192|protein_coding||c.*663C>T|||||4569|,T|downstream_gene_variant|MODIFIER|UBE2L3|ENSG00000185651|transcript|ENST00000496722|retained_intron||n.*3451C>T|||||4569|,T|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron|3/3|n.1099G>A||||||,T|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron|2/2|n.909G>A||||||,T|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay|5/5|n.*435G>A||||||,T|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron|4/4|n.1005G>A||||||,T|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron|4/4|n.907G>A|||||| 22 21982911 . G C . . ANN=C|synonymous_variant|LOW|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding|5/5|c.768C>G|p.Gly256Gly|818/1351|768/972|256/323||,C|3_prime_UTR_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay|5/5|n.*416C>G|||||758|,C|3_prime_UTR_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding|4/4|c.*140C>G|||||140|,C|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding||c.-162G>C|||||4107|,C|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding||c.-175G>C|||||4094|,C|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.-115G>C|||||4096|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|UBE2L3|ENSG00000185651|transcript|ENST00000342192|protein_coding||c.*663G>C|||||4588|,C|downstream_gene_variant|MODIFIER|UBE2L3|ENSG00000185651|transcript|ENST00000496722|retained_intron||n.*3451G>C|||||4588|,C|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron|3/3|n.1080C>G||||||,C|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron|2/2|n.890C>G||||||,C|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay|5/5|n.*416C>G||||||,C|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron|4/4|n.986C>G||||||,C|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron|4/4|n.888C>G|||||| 22 21982924 . G C . . ANN=C|missense_variant|MODERATE|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding|5/5|c.755C>G|p.Pro252Arg|805/1351|755/972|252/323||,C|3_prime_UTR_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay|5/5|n.*403C>G|||||745|,C|3_prime_UTR_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding|4/4|c.*127C>G|||||127|,C|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding||c.-162G>C|||||4094|,C|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding||c.-175G>C|||||4081|,C|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.-115G>C|||||4083|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|UBE2L3|ENSG00000185651|transcript|ENST00000342192|protein_coding||c.*663G>C|||||4601|,C|downstream_gene_variant|MODIFIER|UBE2L3|ENSG00000185651|transcript|ENST00000496722|retained_intron||n.*3451G>C|||||4601|,C|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron|3/3|n.1067C>G||||||,C|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron|2/2|n.877C>G||||||,C|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay|5/5|n.*403C>G||||||,C|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron|4/4|n.973C>G||||||,C|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron|4/4|n.875C>G|||||| 22 21982978 . G A . . ANN=A|missense_variant|MODERATE|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding|5/5|c.701C>T|p.Ala234Val|751/1351|701/972|234/323||,A|3_prime_UTR_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay|5/5|n.*349C>T|||||691|,A|3_prime_UTR_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding|4/4|c.*73C>T|||||73|,A|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding||c.-162G>A|||||4040|,A|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding||c.-175G>A|||||4027|,A|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.-115G>A|||||4029|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|UBE2L3|ENSG00000185651|transcript|ENST00000342192|protein_coding||c.*663G>A|||||4655|,A|downstream_gene_variant|MODIFIER|UBE2L3|ENSG00000185651|transcript|ENST00000496722|retained_intron||n.*3451G>A|||||4655|,A|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron|3/3|n.1013C>T||||||,A|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron|2/2|n.823C>T||||||,A|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay|5/5|n.*349C>T||||||,A|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron|4/4|n.919C>T||||||,A|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron|4/4|n.821C>T|||||| 22 21983105 . A C . . ANN=C|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding||c.-162A>C|||||3913|,C|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding||c.-175A>C|||||3900|,C|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.-115A>C|||||3902|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|UBE2L3|ENSG00000185651|transcript|ENST00000342192|protein_coding||c.*663A>C|||||4782|,C|downstream_gene_variant|MODIFIER|UBE2L3|ENSG00000185651|transcript|ENST00000496722|retained_intron||n.*3451A>C|||||4782|,C|intron_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding|4/4|c.603-29T>G||||||,C|intron_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron|2/2|n.915-29T>G||||||,C|intron_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron|1/1|n.725-29T>G||||||,C|intron_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay|4/4|n.*251-29T>G||||||,C|intron_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding|3/3|c.425-29T>G||||||,C|intron_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron|3/3|n.821-29T>G||||||,C|intron_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron|3/3|n.723-29T>G|||||| 22 21983260 . A G . . ANN=G|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding||c.-162A>G|||||3758|,G|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding||c.-175A>G|||||3745|,G|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.-115A>G|||||3747|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|UBE2L3|ENSG00000185651|transcript|ENST00000342192|protein_coding||c.*663A>G|||||4937|,G|downstream_gene_variant|MODIFIER|UBE2L3|ENSG00000185651|transcript|ENST00000496722|retained_intron||n.*3451A>G|||||4937|,G|intron_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding|4/4|c.602+39T>C||||||,G|intron_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron|2/2|n.914+39T>C||||||,G|intron_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron|1/1|n.725-184T>C||||||,G|intron_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay|4/4|n.*250+39T>C||||||,G|intron_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding|3/3|c.425-184T>C||||||,G|intron_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron|3/3|n.820+39T>C||||||,G|intron_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron|3/3|n.722+39T>C|||||| 22 21983314 . G A . . ANN=A|missense_variant|MODERATE|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding|4/5|c.587C>T|p.Ser196Phe|637/1351|587/972|196/323||,A|3_prime_UTR_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay|4/5|n.*235C>T|||||355|,A|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding||c.-162G>A|||||3704|,A|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding||c.-175G>A|||||3691|,A|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.-115G>A|||||3693|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|UBE2L3|ENSG00000185651|transcript|ENST00000342192|protein_coding||c.*663G>A|||||4991|,A|downstream_gene_variant|MODIFIER|UBE2L3|ENSG00000185651|transcript|ENST00000496722|retained_intron||n.*3451G>A|||||4991|,A|intron_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron|1/1|n.725-238C>T||||||,A|intron_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding|3/3|c.425-238C>T||||||,A|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron|2/3|n.899C>T||||||,A|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay|4/5|n.*235C>T||||||,A|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron|3/4|n.805C>T||||||,A|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron|3/4|n.707C>T|||||| 22 21983457 . G C . . ANN=C|synonymous_variant|LOW|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding|4/5|c.444C>G|p.Ala148Ala|494/1351|444/972|148/323||,C|3_prime_UTR_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay|4/5|n.*92C>G|||||212|,C|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding||c.-162G>C|||||3561|,C|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding||c.-175G>C|||||3548|,C|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.-115G>C|||||3550|WARNING_TRANSCRIPT_INCOMPLETE,C|TF_binding_site_variant|MODIFIER|||Nrsf|MA0138.2|||||||||,C|intron_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron|1/1|n.724+140C>G||||||,C|intron_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding|3/3|c.424+140C>G||||||,C|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron|2/3|n.756C>G||||||,C|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay|4/5|n.*92C>G||||||,C|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron|3/4|n.662C>G||||||,C|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron|3/4|n.564C>G|||||| 22 21983693 . G C . . ANN=C|missense_variant|MODERATE|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding|3/5|c.328C>G|p.Arg110Gly|378/1351|328/972|110/323||,C|missense_variant|MODERATE|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding|3/4|c.328C>G|p.Arg110Gly|350/1142|328/450|110/149||,C|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding||c.-162G>C|||||3325|,C|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding||c.-175G>C|||||3312|,C|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.-115G>C|||||3314|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron|2/3|n.520C>G||||||,C|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron|1/2|n.628C>G||||||,C|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay|3/5|n.387C>G||||||,C|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron|2/4|n.546C>G||||||,C|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron|3/4|n.328C>G|||||| 22 21983853 . G A . . ANN=A|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding||c.-162G>A|||||3165|,A|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding||c.-175G>A|||||3152|,A|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.-115G>A|||||3154|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding|2/4|c.324+38C>T||||||,A|intron_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding|2/3|c.324+38C>T||||||,A|intron_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron|2/3|n.324+38C>T||||||,A|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron|2/3|n.360C>T||||||,A|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron|1/2|n.468C>T||||||,A|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay|2/5|n.362C>T||||||,A|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron|2/4|n.386C>T|||||| 22 21984205 . A G . . ANN=G|synonymous_variant|LOW|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding|1/5|c.99T>C|p.Ala33Ala|149/1351|99/972|33/323||,G|synonymous_variant|LOW|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding|1/4|c.99T>C|p.Ala33Ala|121/1142|99/450|33/149||,G|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding||c.-162A>G|||||2813|,G|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding||c.-175A>G|||||2800|,G|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.-115A>G|||||2802|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron|1/3|n.97T>C||||||,G|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron|1/2|n.116T>C||||||,G|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay|1/5|n.99T>C||||||,G|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron|1/4|n.123T>C||||||,G|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron|1/4|n.99T>C|||||| 22 21984211 . G A . . ANN=A|synonymous_variant|LOW|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding|1/5|c.93C>T|p.Ala31Ala|143/1351|93/972|31/323||,A|synonymous_variant|LOW|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding|1/4|c.93C>T|p.Ala31Ala|115/1142|93/450|31/149||,A|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding||c.-162G>A|||||2807|,A|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding||c.-175G>A|||||2794|,A|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.-115G>A|||||2796|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron|1/3|n.91C>T||||||,A|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron|1/2|n.110C>T||||||,A|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay|1/5|n.93C>T||||||,A|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron|1/4|n.117C>T||||||,A|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron|1/4|n.93C>T|||||| 22 21984246 . G C . . ANN=C|missense_variant|MODERATE|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding|1/5|c.58C>G|p.Arg20Gly|108/1351|58/972|20/323||,C|missense_variant|MODERATE|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding|1/4|c.58C>G|p.Arg20Gly|80/1142|58/450|20/149||,C|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding||c.-162G>C|||||2772|,C|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding||c.-175G>C|||||2759|,C|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.-115G>C|||||2761|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron|1/3|n.56C>G||||||,C|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron|1/2|n.75C>G||||||,C|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay|1/5|n.58C>G||||||,C|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron|1/4|n.82C>G||||||,C|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron|1/4|n.58C>G|||||| 22 21984313 . G C . . ANN=C|5_prime_UTR_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding|1/5|c.-10C>G|||||10|,C|5_prime_UTR_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay|1/5|n.-10C>G|||||10|,C|5_prime_UTR_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding|1/4|c.-10C>G|||||10|,C|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding||c.-162G>C|||||2705|,C|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1C>G|||||12|,C|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1C>G|||||10|,C|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding||c.-175G>C|||||2692|,C|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.-115G>C|||||2694|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron|1/2|n.8C>G||||||,C|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay|1/5|n.-10C>G||||||,C|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron|1/4|n.15C>G|||||| 22 21987562 . C T . . ANN=T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51G>A|||||3209|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1G>A|||||3261|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1G>A|||||3242|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51G>A|||||3209|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23G>A|||||3237|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1G>A|||||3235|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1G>A|||||3259|,T|intron_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|2/4|c.72+20C>T||||||,T|intron_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|2/3|c.72+20C>T||||||,T|intron_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding|2/2|c.270+20C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 21988280 . C T . . ANN=T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51G>A|||||3927|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1G>A|||||3979|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1G>A|||||3960|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51G>A|||||3927|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23G>A|||||3955|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1G>A|||||3953|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1G>A|||||3977|,T|intron_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|2/4|c.73-31C>T||||||,T|intron_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|2/3|c.73-31C>T||||||,T|intron_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding|2/2|c.271-31C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 21988295 . A G . . ANN=G|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51T>C|||||3942|,G|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1T>C|||||3994|,G|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1T>C|||||3975|,G|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51T>C|||||3942|,G|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23T>C|||||3970|,G|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1T>C|||||3968|,G|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1T>C|||||3992|,G|intron_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|2/4|c.73-16A>G||||||,G|intron_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|2/3|c.73-16A>G||||||,G|intron_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding|2/2|c.271-16A>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 21988303 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|2/4|c.73-8C>T||||||,T|splice_region_variant&intron_variant|LOW|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|2/3|c.73-8C>T||||||,T|splice_region_variant&intron_variant|LOW|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding|2/2|c.271-8C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51G>A|||||3950|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1G>A|||||4002|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1G>A|||||3983|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51G>A|||||3950|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23G>A|||||3978|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1G>A|||||3976|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1G>A|||||4000| 22 21988422 . C T . . ANN=T|stop_gained|HIGH|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|3/5|c.184C>T|p.Arg62*|345/2260|184/1842|62/613||,T|stop_gained|HIGH|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|3/4|c.184C>T|p.Arg62*|358/1913|184/1581|62/526||,T|stop_gained|HIGH|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding|3/3|c.382C>T|p.Arg128*|496/572|382/458|128/151||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51G>A|||||4069|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1G>A|||||4121|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1G>A|||||4102|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51G>A|||||4069|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23G>A|||||4097|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1G>A|||||4095|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1G>A|||||4119|;LOF=(CCDC116|ENSG00000161180|3|0.67);NMD=(CCDC116|ENSG00000161180|3|0.67) 22 21988423 . G A . . ANN=A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|3/5|c.185G>A|p.Arg62Gln|346/2260|185/1842|62/613||,A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|3/4|c.185G>A|p.Arg62Gln|359/1913|185/1581|62/526||,A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding|3/3|c.383G>A|p.Arg128Gln|497/572|383/458|128/151||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51C>T|||||4070|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1C>T|||||4122|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1C>T|||||4103|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51C>T|||||4070|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23C>T|||||4098|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1C>T|||||4096|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1C>T|||||4120| 22 21988524 . C T . . ANN=T|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|3/5|c.286C>T|p.Arg96Cys|447/2260|286/1842|96/613||,T|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|3/4|c.286C>T|p.Arg96Cys|460/1913|286/1581|96/526||,T|sequence_feature|LOW|CCDC116|ENSG00000161180|coiled-coil_region|ENST00000292779|protein_coding|3/5|c.286C>T||||||,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51G>A|||||4171|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1G>A|||||4223|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1G>A|||||4204|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51G>A|||||4171|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23G>A|||||4199|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1G>A|||||4197|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1G>A|||||4221|,T|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572C>T|||||26|WARNING_TRANSCRIPT_INCOMPLETE 22 21988563 . G T . . ANN=T|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|3/5|c.325G>T|p.Val109Leu|486/2260|325/1842|109/613||,T|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|3/4|c.325G>T|p.Val109Leu|499/1913|325/1581|109/526||,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51C>A|||||4210|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1C>A|||||4262|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1C>A|||||4243|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51C>A|||||4210|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23C>A|||||4238|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1C>A|||||4236|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1C>A|||||4260|,T|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572G>T|||||65|WARNING_TRANSCRIPT_INCOMPLETE 22 21988578 . C A . . ANN=A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|3/5|c.340C>A|p.Pro114Thr|501/2260|340/1842|114/613||,A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|3/4|c.340C>A|p.Pro114Thr|514/1913|340/1581|114/526||,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51G>T|||||4225|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1G>T|||||4277|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1G>T|||||4258|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51G>T|||||4225|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23G>T|||||4253|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1G>T|||||4251|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1G>T|||||4275|,A|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572C>A|||||80|WARNING_TRANSCRIPT_INCOMPLETE 22 21988599 . G A . . ANN=A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|3/5|c.361G>A|p.Gly121Arg|522/2260|361/1842|121/613||,A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|3/4|c.361G>A|p.Gly121Arg|535/1913|361/1581|121/526||,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51C>T|||||4246|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1C>T|||||4298|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1C>T|||||4279|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51C>T|||||4246|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23C>T|||||4274|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1C>T|||||4272|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1C>T|||||4296|,A|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572G>A|||||101|WARNING_TRANSCRIPT_INCOMPLETE 22 21988602 . C T . . ANN=T|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|3/5|c.364C>T|p.Arg122Trp|525/2260|364/1842|122/613||,T|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|3/4|c.364C>T|p.Arg122Trp|538/1913|364/1581|122/526||,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51G>A|||||4249|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1G>A|||||4301|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1G>A|||||4282|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51G>A|||||4249|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23G>A|||||4277|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1G>A|||||4275|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1G>A|||||4299|,T|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572C>T|||||104|WARNING_TRANSCRIPT_INCOMPLETE 22 21988641 . C T . . ANN=T|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|3/5|c.403C>T|p.Arg135Trp|564/2260|403/1842|135/613||,T|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|3/4|c.403C>T|p.Arg135Trp|577/1913|403/1581|135/526||,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51G>A|||||4288|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1G>A|||||4340|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1G>A|||||4321|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51G>A|||||4288|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23G>A|||||4316|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1G>A|||||4314|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1G>A|||||4338|,T|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572C>T|||||143|WARNING_TRANSCRIPT_INCOMPLETE 22 21988648 . G A . . ANN=A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|3/5|c.410G>A|p.Arg137His|571/2260|410/1842|137/613||,A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|3/4|c.410G>A|p.Arg137His|584/1913|410/1581|137/526||,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51C>T|||||4295|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1C>T|||||4347|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1C>T|||||4328|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51C>T|||||4295|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23C>T|||||4323|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1C>T|||||4321|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1C>T|||||4345|,A|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572G>A|||||150|WARNING_TRANSCRIPT_INCOMPLETE 22 21988654 . G A . . ANN=A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|3/5|c.416G>A|p.Arg139Gln|577/2260|416/1842|139/613||,A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|3/4|c.416G>A|p.Arg139Gln|590/1913|416/1581|139/526||,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51C>T|||||4301|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1C>T|||||4353|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1C>T|||||4334|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51C>T|||||4301|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23C>T|||||4329|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1C>T|||||4327|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1C>T|||||4351|,A|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572G>A|||||156|WARNING_TRANSCRIPT_INCOMPLETE 22 21988738 . G A . . ANN=A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|3/5|c.500G>A|p.Gly167Asp|661/2260|500/1842|167/613||,A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|3/4|c.500G>A|p.Gly167Asp|674/1913|500/1581|167/526||,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51C>T|||||4385|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1C>T|||||4437|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1C>T|||||4418|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51C>T|||||4385|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23C>T|||||4413|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1C>T|||||4411|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1C>T|||||4435|,A|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572G>A|||||240|WARNING_TRANSCRIPT_INCOMPLETE 22 21988758 . C T . . ANN=T|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|3/5|c.520C>T|p.Arg174Trp|681/2260|520/1842|174/613||,T|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|3/4|c.520C>T|p.Arg174Trp|694/1913|520/1581|174/526||,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51G>A|||||4405|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1G>A|||||4457|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1G>A|||||4438|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51G>A|||||4405|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23G>A|||||4433|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1G>A|||||4431|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1G>A|||||4455|,T|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572C>T|||||260|WARNING_TRANSCRIPT_INCOMPLETE 22 21988760 . G A . . ANN=A|synonymous_variant|LOW|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|3/5|c.522G>A|p.Arg174Arg|683/2260|522/1842|174/613||,A|synonymous_variant|LOW|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|3/4|c.522G>A|p.Arg174Arg|696/1913|522/1581|174/526||,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51C>T|||||4407|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1C>T|||||4459|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1C>T|||||4440|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51C>T|||||4407|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23C>T|||||4435|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1C>T|||||4433|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1C>T|||||4457|,A|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572G>A|||||262|WARNING_TRANSCRIPT_INCOMPLETE 22 21988774 . G A . . ANN=A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|3/5|c.536G>A|p.Gly179Asp|697/2260|536/1842|179/613||,A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|3/4|c.536G>A|p.Gly179Asp|710/1913|536/1581|179/526||,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51C>T|||||4421|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1C>T|||||4473|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1C>T|||||4454|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51C>T|||||4421|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23C>T|||||4449|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1C>T|||||4447|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1C>T|||||4471|,A|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572G>A|||||276|WARNING_TRANSCRIPT_INCOMPLETE 22 21988833 . C T . . ANN=T|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|3/5|c.595C>T|p.Arg199Trp|756/2260|595/1842|199/613||,T|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|3/4|c.595C>T|p.Arg199Trp|769/1913|595/1581|199/526||,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51G>A|||||4480|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1G>A|||||4532|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1G>A|||||4513|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51G>A|||||4480|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23G>A|||||4508|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1G>A|||||4506|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1G>A|||||4530|,T|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572C>T|||||335|WARNING_TRANSCRIPT_INCOMPLETE 22 21988834 . G A . . ANN=A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|3/5|c.596G>A|p.Arg199Gln|757/2260|596/1842|199/613||,A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|3/4|c.596G>A|p.Arg199Gln|770/1913|596/1581|199/526||,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51C>T|||||4481|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1C>T|||||4533|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1C>T|||||4514|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51C>T|||||4481|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23C>T|||||4509|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1C>T|||||4507|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1C>T|||||4531|,A|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572G>A|||||336|WARNING_TRANSCRIPT_INCOMPLETE 22 21988854 . G A . . ANN=A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|3/5|c.616G>A|p.Glu206Lys|777/2260|616/1842|206/613||,A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|3/4|c.616G>A|p.Glu206Lys|790/1913|616/1581|206/526||,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51C>T|||||4501|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1C>T|||||4553|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1C>T|||||4534|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51C>T|||||4501|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23C>T|||||4529|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1C>T|||||4527|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1C>T|||||4551|,A|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572G>A|||||356|WARNING_TRANSCRIPT_INCOMPLETE 22 21988858 . G T . . ANN=T|missense_variant&splice_region_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|3/5|c.620G>T|p.Gly207Val|781/2260|620/1842|207/613||,T|missense_variant&splice_region_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|3/4|c.620G>T|p.Gly207Val|794/1913|620/1581|207/526||,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51C>A|||||4505|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1C>A|||||4557|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1C>A|||||4538|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51C>A|||||4505|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23C>A|||||4533|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1C>A|||||4531|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1C>A|||||4555|,T|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572G>T|||||360|WARNING_TRANSCRIPT_INCOMPLETE 22 21988865 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|3/4|c.621+6A>G||||||,G|splice_region_variant&intron_variant|LOW|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|3/3|c.621+6A>G||||||,G|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51T>C|||||4512|,G|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1T>C|||||4564|,G|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1T>C|||||4545|,G|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51T>C|||||4512|,G|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23T>C|||||4540|,G|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1T>C|||||4538|,G|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1T>C|||||4562|,G|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572A>G|||||367|WARNING_TRANSCRIPT_INCOMPLETE 22 21989008 . C G . . ANN=G|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|4/5|c.656C>G|p.Ser219Cys|817/2260|656/1842|219/613||,G|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|4/4|c.656C>G|p.Ser219Cys|830/1913|656/1581|219/526||,G|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51G>C|||||4655|,G|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1G>C|||||4707|,G|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1G>C|||||4688|,G|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51G>C|||||4655|,G|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23G>C|||||4683|,G|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1G>C|||||4681|,G|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1G>C|||||4705|,G|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572C>G|||||510|WARNING_TRANSCRIPT_INCOMPLETE 22 21989092 . G T . . ANN=T|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|4/5|c.740G>T|p.Gly247Val|901/2260|740/1842|247/613||,T|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|4/4|c.740G>T|p.Gly247Val|914/1913|740/1581|247/526||,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51C>A|||||4739|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1C>A|||||4791|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1C>A|||||4772|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51C>A|||||4739|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23C>A|||||4767|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1C>A|||||4765|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1C>A|||||4789|,T|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572G>T|||||594|WARNING_TRANSCRIPT_INCOMPLETE 22 21989106 . G A . . ANN=A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|4/5|c.754G>A|p.Val252Met|915/2260|754/1842|252/613||,A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|4/4|c.754G>A|p.Val252Met|928/1913|754/1581|252/526||,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51C>T|||||4753|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1C>T|||||4805|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1C>T|||||4786|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51C>T|||||4753|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23C>T|||||4781|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1C>T|||||4779|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1C>T|||||4803|,A|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572G>A|||||608|WARNING_TRANSCRIPT_INCOMPLETE 22 21989142 . G A . . ANN=A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|4/5|c.790G>A|p.Glu264Lys|951/2260|790/1842|264/613||,A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|4/4|c.790G>A|p.Glu264Lys|964/1913|790/1581|264/526||,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51C>T|||||4789|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1C>T|||||4841|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1C>T|||||4822|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51C>T|||||4789|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23C>T|||||4817|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1C>T|||||4815|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1C>T|||||4839|,A|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572G>A|||||644|WARNING_TRANSCRIPT_INCOMPLETE 22 21989154 . C T . . ANN=T|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|4/5|c.802C>T|p.Arg268Cys|963/2260|802/1842|268/613||,T|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|4/4|c.802C>T|p.Arg268Cys|976/1913|802/1581|268/526||,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51G>A|||||4801|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1G>A|||||4853|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1G>A|||||4834|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51G>A|||||4801|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23G>A|||||4829|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1G>A|||||4827|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1G>A|||||4851|,T|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572C>T|||||656|WARNING_TRANSCRIPT_INCOMPLETE 22 21989179 . T A . . ANN=A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|4/5|c.827T>A|p.Ile276Asn|988/2260|827/1842|276/613||,A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|4/4|c.827T>A|p.Ile276Asn|1001/1913|827/1581|276/526||,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51A>T|||||4826|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1A>T|||||4878|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1A>T|||||4859|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51A>T|||||4826|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23A>T|||||4854|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1A>T|||||4852|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1A>T|||||4876|,A|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572T>A|||||681|WARNING_TRANSCRIPT_INCOMPLETE 22 21989194 . G C . . ANN=C|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|4/5|c.842G>C|p.Ser281Thr|1003/2260|842/1842|281/613||,C|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|4/4|c.842G>C|p.Ser281Thr|1016/1913|842/1581|281/526||,C|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51C>G|||||4841|,C|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1C>G|||||4893|,C|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1C>G|||||4874|,C|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51C>G|||||4841|,C|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23C>G|||||4869|,C|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1C>G|||||4867|,C|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1C>G|||||4891|,C|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572G>C|||||696|WARNING_TRANSCRIPT_INCOMPLETE 22 21989230 . C T . . ANN=T|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|4/5|c.878C>T|p.Pro293Leu|1039/2260|878/1842|293/613||,T|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|4/4|c.878C>T|p.Pro293Leu|1052/1913|878/1581|293/526||,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51G>A|||||4877|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1G>A|||||4929|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1G>A|||||4910|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51G>A|||||4877|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23G>A|||||4905|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1G>A|||||4903|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1G>A|||||4927|,T|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572C>T|||||732|WARNING_TRANSCRIPT_INCOMPLETE 22 21989236 . G A . . ANN=A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|4/5|c.884G>A|p.Arg295His|1045/2260|884/1842|295/613||,A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|4/4|c.884G>A|p.Arg295His|1058/1913|884/1581|295/526||,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51C>T|||||4883|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1C>T|||||4935|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1C>T|||||4916|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51C>T|||||4883|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23C>T|||||4911|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1C>T|||||4909|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1C>T|||||4933|,A|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572G>A|||||738|WARNING_TRANSCRIPT_INCOMPLETE 22 21989241 . C T . . ANN=T|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|4/5|c.889C>T|p.Pro297Ser|1050/2260|889/1842|297/613||,T|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|4/4|c.889C>T|p.Pro297Ser|1063/1913|889/1581|297/526||,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51G>A|||||4888|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1G>A|||||4940|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1G>A|||||4921|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51G>A|||||4888|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23G>A|||||4916|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1G>A|||||4914|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1G>A|||||4938|,T|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572C>T|||||743|WARNING_TRANSCRIPT_INCOMPLETE 22 21989248 . G A . . ANN=A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|4/5|c.896G>A|p.Arg299His|1057/2260|896/1842|299/613||,A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|4/4|c.896G>A|p.Arg299His|1070/1913|896/1581|299/526||,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51C>T|||||4895|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1C>T|||||4947|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1C>T|||||4928|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51C>T|||||4895|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23C>T|||||4923|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1C>T|||||4921|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1C>T|||||4945|,A|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572G>A|||||750|WARNING_TRANSCRIPT_INCOMPLETE 22 21989258 . C T . . ANN=T|synonymous_variant|LOW|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|4/5|c.906C>T|p.Asn302Asn|1067/2260|906/1842|302/613||,T|synonymous_variant|LOW|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|4/4|c.906C>T|p.Asn302Asn|1080/1913|906/1581|302/526||,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51G>A|||||4905|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1G>A|||||4957|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1G>A|||||4938|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51G>A|||||4905|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23G>A|||||4933|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1G>A|||||4931|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1G>A|||||4955|,T|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572C>T|||||760|WARNING_TRANSCRIPT_INCOMPLETE 22 21989289 . C T . . ANN=T|synonymous_variant|LOW|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|4/5|c.937C>T|p.Leu313Leu|1098/2260|937/1842|313/613||,T|synonymous_variant|LOW|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|4/4|c.937C>T|p.Leu313Leu|1111/1913|937/1581|313/526||,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51G>A|||||4936|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1G>A|||||4988|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1G>A|||||4969|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51G>A|||||4936|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23G>A|||||4964|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1G>A|||||4962|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1G>A|||||4986|,T|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572C>T|||||791|WARNING_TRANSCRIPT_INCOMPLETE 22 21989325 . C T . . ANN=T|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|4/5|c.973C>T|p.Arg325Cys|1134/2260|973/1842|325/613||,T|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|4/4|c.973C>T|p.Arg325Cys|1147/1913|973/1581|325/526||,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51G>A|||||4972|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51G>A|||||4972|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23G>A|||||5000|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1G>A|||||4998|,T|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572C>T|||||827|WARNING_TRANSCRIPT_INCOMPLETE 22 21989346 . G A . . ANN=A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|4/5|c.994G>A|p.Gly332Ser|1155/2260|994/1842|332/613||,A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|4/4|c.994G>A|p.Gly332Ser|1168/1913|994/1581|332/526||,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51C>T|||||4993|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51C>T|||||4993|,A|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572G>A|||||848|WARNING_TRANSCRIPT_INCOMPLETE 22 21989397 . C G . . ANN=G|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|4/5|c.1045C>G|p.Leu349Val|1206/2260|1045/1842|349/613||,G|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|4/4|c.1045C>G|p.Leu349Val|1219/1913|1045/1581|349/526||,G|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572C>G|||||899|WARNING_TRANSCRIPT_INCOMPLETE 22 21989451 . C T . . ANN=T|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|4/5|c.1099C>T|p.Arg367Cys|1260/2260|1099/1842|367/613||,T|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|4/4|c.1099C>T|p.Arg367Cys|1273/1913|1099/1581|367/526||,T|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572C>T|||||953|WARNING_TRANSCRIPT_INCOMPLETE 22 21989467 . G C . . ANN=C|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|4/5|c.1115G>C|p.Ser372Thr|1276/2260|1115/1842|372/613||,C|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|4/4|c.1115G>C|p.Ser372Thr|1289/1913|1115/1581|372/526||,C|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572G>C|||||969|WARNING_TRANSCRIPT_INCOMPLETE 22 21989490 . C T . . ANN=T|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|4/5|c.1138C>T|p.Arg380Cys|1299/2260|1138/1842|380/613||,T|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|4/4|c.1138C>T|p.Arg380Cys|1312/1913|1138/1581|380/526||,T|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572C>T|||||992|WARNING_TRANSCRIPT_INCOMPLETE 22 21989491 . G A . . ANN=A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|4/5|c.1139G>A|p.Arg380His|1300/2260|1139/1842|380/613||,A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|4/4|c.1139G>A|p.Arg380His|1313/1913|1139/1581|380/526||,A|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572G>A|||||993|WARNING_TRANSCRIPT_INCOMPLETE 22 21989501 . A G . . ANN=G|synonymous_variant|LOW|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|4/5|c.1149A>G|p.Arg383Arg|1310/2260|1149/1842|383/613||,G|synonymous_variant|LOW|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|4/4|c.1149A>G|p.Arg383Arg|1323/1913|1149/1581|383/526||,G|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572A>G|||||1003|WARNING_TRANSCRIPT_INCOMPLETE 22 21990671 . G C . . ANN=C|upstream_gene_variant|MODIFIER|KB-1440D3.14|ENSG00000273342|transcript|ENST00000609038|lincRNA||n.-1G>C|||||4462|,C|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding||c.*1755G>C|||||580|,C|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572G>C|||||2173|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|4/4|c.1204-50G>C|||||| 22 21990707 . C T . . ANN=T|upstream_gene_variant|MODIFIER|KB-1440D3.14|ENSG00000273342|transcript|ENST00000609038|lincRNA||n.-1C>T|||||4426|,T|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding||c.*1755C>T|||||616|,T|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572C>T|||||2209|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|4/4|c.1204-14C>T|||||| 22 21990752 . A G . . ANN=G|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|5/5|c.1235A>G|p.Lys412Arg|1396/2260|1235/1842|412/613||,G|upstream_gene_variant|MODIFIER|KB-1440D3.14|ENSG00000273342|transcript|ENST00000609038|lincRNA||n.-1A>G|||||4381|,G|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding||c.*1755A>G|||||661|,G|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572A>G|||||2254|WARNING_TRANSCRIPT_INCOMPLETE 22 21990777 . G A . . ANN=A|synonymous_variant|LOW|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|5/5|c.1260G>A|p.Ser420Ser|1421/2260|1260/1842|420/613||,A|upstream_gene_variant|MODIFIER|KB-1440D3.14|ENSG00000273342|transcript|ENST00000609038|lincRNA||n.-1G>A|||||4356|,A|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding||c.*1755G>A|||||686|,A|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572G>A|||||2279|WARNING_TRANSCRIPT_INCOMPLETE 22 21990822 . C T . . ANN=T|synonymous_variant|LOW|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|5/5|c.1305C>T|p.Leu435Leu|1466/2260|1305/1842|435/613||,T|upstream_gene_variant|MODIFIER|KB-1440D3.14|ENSG00000273342|transcript|ENST00000609038|lincRNA||n.-1C>T|||||4311|,T|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding||c.*1755C>T|||||731|,T|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572C>T|||||2324|WARNING_TRANSCRIPT_INCOMPLETE 22 21990823 . G A . . ANN=A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|5/5|c.1306G>A|p.Ala436Thr|1467/2260|1306/1842|436/613||,A|upstream_gene_variant|MODIFIER|KB-1440D3.14|ENSG00000273342|transcript|ENST00000609038|lincRNA||n.-1G>A|||||4310|,A|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding||c.*1755G>A|||||732|,A|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572G>A|||||2325|WARNING_TRANSCRIPT_INCOMPLETE 22 21990849 . C T . . ANN=T|synonymous_variant|LOW|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|5/5|c.1332C>T|p.Ala444Ala|1493/2260|1332/1842|444/613||,T|upstream_gene_variant|MODIFIER|KB-1440D3.14|ENSG00000273342|transcript|ENST00000609038|lincRNA||n.-1C>T|||||4284|,T|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding||c.*1755C>T|||||758|,T|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572C>T|||||2351|WARNING_TRANSCRIPT_INCOMPLETE 22 21990877 . G T . . ANN=T|stop_gained|HIGH|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|5/5|c.1360G>T|p.Glu454*|1521/2260|1360/1842|454/613||,T|upstream_gene_variant|MODIFIER|KB-1440D3.14|ENSG00000273342|transcript|ENST00000609038|lincRNA||n.-1G>T|||||4256|,T|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding||c.*1755G>T|||||786|,T|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572G>T|||||2379|WARNING_TRANSCRIPT_INCOMPLETE 22 21990914 . T G . . ANN=G|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|5/5|c.1397T>G|p.Phe466Cys|1558/2260|1397/1842|466/613||,G|upstream_gene_variant|MODIFIER|KB-1440D3.14|ENSG00000273342|transcript|ENST00000609038|lincRNA||n.-1T>G|||||4219|,G|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding||c.*1755T>G|||||823|,G|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572T>G|||||2416|WARNING_TRANSCRIPT_INCOMPLETE 22 21991072 . T C . . ANN=C|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|5/5|c.1555T>C|p.Cys519Arg|1716/2260|1555/1842|519/613||,C|upstream_gene_variant|MODIFIER|KB-1440D3.14|ENSG00000273342|transcript|ENST00000609038|lincRNA||n.-1T>C|||||4061|,C|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding||c.*1755T>C|||||981|,C|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572T>C|||||2574|WARNING_TRANSCRIPT_INCOMPLETE 22 21991120 . G A . . ANN=A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|5/5|c.1603G>A|p.Ala535Thr|1764/2260|1603/1842|535/613||,A|upstream_gene_variant|MODIFIER|KB-1440D3.14|ENSG00000273342|transcript|ENST00000609038|lincRNA||n.-1G>A|||||4013|,A|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding||c.*1755G>A|||||1029|,A|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572G>A|||||2622|WARNING_TRANSCRIPT_INCOMPLETE 22 21991147 . C T . . ANN=T|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|5/5|c.1630C>T|p.Arg544Cys|1791/2260|1630/1842|544/613||,T|upstream_gene_variant|MODIFIER|KB-1440D3.14|ENSG00000273342|transcript|ENST00000609038|lincRNA||n.-1C>T|||||3986|,T|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding||c.*1755C>T|||||1056|,T|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572C>T|||||2649|WARNING_TRANSCRIPT_INCOMPLETE 22 21991218 . C T . . ANN=T|synonymous_variant|LOW|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|5/5|c.1701C>T|p.Ala567Ala|1862/2260|1701/1842|567/613||,T|upstream_gene_variant|MODIFIER|KB-1440D3.14|ENSG00000273342|transcript|ENST00000609038|lincRNA||n.-1C>T|||||3915|,T|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding||c.*1755C>T|||||1127|,T|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572C>T|||||2720|WARNING_TRANSCRIPT_INCOMPLETE 22 21991224 . C T . . ANN=T|synonymous_variant|LOW|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|5/5|c.1707C>T|p.Thr569Thr|1868/2260|1707/1842|569/613||,T|upstream_gene_variant|MODIFIER|KB-1440D3.14|ENSG00000273342|transcript|ENST00000609038|lincRNA||n.-1C>T|||||3909|,T|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding||c.*1755C>T|||||1133|,T|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572C>T|||||2726|WARNING_TRANSCRIPT_INCOMPLETE 22 21991307 . A G . . ANN=G|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|5/5|c.1790A>G|p.Asp597Gly|1951/2260|1790/1842|597/613||,G|upstream_gene_variant|MODIFIER|KB-1440D3.14|ENSG00000273342|transcript|ENST00000609038|lincRNA||n.-1A>G|||||3826|,G|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding||c.*1755A>G|||||1216|,G|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572A>G|||||2809|WARNING_TRANSCRIPT_INCOMPLETE 22 21991350 . T C . . ANN=C|synonymous_variant|LOW|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|5/5|c.1833T>C|p.Asp611Asp|1994/2260|1833/1842|611/613||,C|upstream_gene_variant|MODIFIER|KB-1440D3.14|ENSG00000273342|transcript|ENST00000609038|lincRNA||n.-1T>C|||||3783|,C|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding||c.*1755T>C|||||1259|,C|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572T>C|||||2852|WARNING_TRANSCRIPT_INCOMPLETE 22 21996599 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|SDF2L1|ENSG00000128228|transcript|ENST00000248958|protein_coding|1/3|c.-27C>T|||||27|,T|upstream_gene_variant|MODIFIER|SDF2L1|ENSG00000128228|transcript|ENST00000466935|retained_intron||n.-1C>T|||||44|,T|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding||c.*2003C>T|||||4983|,T|downstream_gene_variant|MODIFIER|KB-1440D3.14|ENSG00000273342|transcript|ENST00000609038|lincRNA||n.*441C>T|||||1026| 22 21996653 . G C . . ANN=C|missense_variant|MODERATE|SDF2L1|ENSG00000128228|transcript|ENST00000248958|protein_coding|1/3|c.28G>C|p.Ala10Pro|104/865|28/666|10/221||,C|sequence_feature|LOW|SDF2L1|ENSG00000128228|signal_peptide|ENST00000248958|protein_coding|1/3|c.28G>C||||||,C|downstream_gene_variant|MODIFIER|KB-1440D3.14|ENSG00000273342|transcript|ENST00000609038|lincRNA||n.*441G>C|||||1080|,C|non_coding_exon_variant|MODIFIER|SDF2L1|ENSG00000128228|transcript|ENST00000466935|retained_intron|1/2|n.11G>C|||||| 22 21996722 . G A . . ANN=A|missense_variant|MODERATE|SDF2L1|ENSG00000128228|transcript|ENST00000248958|protein_coding|1/3|c.97G>A|p.Ala33Thr|173/865|97/666|33/221||,A|sequence_feature|LOW|SDF2L1|ENSG00000128228|domain:MIR_1|ENST00000248958|protein_coding|2/3|c.97G>A||||||,A|sequence_feature|LOW|SDF2L1|ENSG00000128228|domain:MIR_1|ENST00000248958|protein_coding|1/3|c.97G>A||||||,A|downstream_gene_variant|MODIFIER|KB-1440D3.14|ENSG00000273342|transcript|ENST00000609038|lincRNA||n.*441G>A|||||1149|,A|non_coding_exon_variant|MODIFIER|SDF2L1|ENSG00000128228|transcript|ENST00000466935|retained_intron|1/2|n.80G>A|||||| 22 21996847 . A G . . ANN=G|sequence_feature|LOW|SDF2L1|ENSG00000128228|domain:MIR_1|ENST00000248958|protein_coding|2/3|c.187+35A>G||||||,G|sequence_feature|LOW|SDF2L1|ENSG00000128228|domain:MIR_1|ENST00000248958|protein_coding|1/3|c.187+35A>G||||||,G|downstream_gene_variant|MODIFIER|KB-1440D3.14|ENSG00000273342|transcript|ENST00000609038|lincRNA||n.*441A>G|||||1274|,G|intron_variant|MODIFIER|SDF2L1|ENSG00000128228|transcript|ENST00000248958|protein_coding|1/2|c.187+35A>G||||||,G|intron_variant|MODIFIER|SDF2L1|ENSG00000128228|transcript|ENST00000466935|retained_intron|1/1|n.170+35A>G|||||| 22 21997104 . T G . . ANN=G|sequence_feature|LOW|SDF2L1|ENSG00000128228|domain:MIR_1|ENST00000248958|protein_coding|2/3|c.188-47T>G||||||,G|sequence_feature|LOW|SDF2L1|ENSG00000128228|domain:MIR_1|ENST00000248958|protein_coding|1/3|c.188-47T>G||||||,G|downstream_gene_variant|MODIFIER|KB-1440D3.14|ENSG00000273342|transcript|ENST00000609038|lincRNA||n.*441T>G|||||1531|,G|intron_variant|MODIFIER|SDF2L1|ENSG00000128228|transcript|ENST00000248958|protein_coding|1/2|c.188-47T>G||||||,G|intron_variant|MODIFIER|SDF2L1|ENSG00000128228|transcript|ENST00000466935|retained_intron|1/1|n.171-47T>G|||||| 22 21997128 . G A . . ANN=A|sequence_feature|LOW|SDF2L1|ENSG00000128228|domain:MIR_1|ENST00000248958|protein_coding|2/3|c.188-23G>A||||||,A|sequence_feature|LOW|SDF2L1|ENSG00000128228|domain:MIR_1|ENST00000248958|protein_coding|1/3|c.188-23G>A||||||,A|downstream_gene_variant|MODIFIER|KB-1440D3.14|ENSG00000273342|transcript|ENST00000609038|lincRNA||n.*441G>A|||||1555|,A|intron_variant|MODIFIER|SDF2L1|ENSG00000128228|transcript|ENST00000248958|protein_coding|1/2|c.188-23G>A||||||,A|intron_variant|MODIFIER|SDF2L1|ENSG00000128228|transcript|ENST00000466935|retained_intron|1/1|n.171-23G>A|||||| 22 21997156 . G A . . ANN=A|missense_variant|MODERATE|SDF2L1|ENSG00000128228|transcript|ENST00000248958|protein_coding|2/3|c.193G>A|p.Gly65Ser|269/865|193/666|65/221||,A|sequence_feature|LOW|SDF2L1|ENSG00000128228|domain:MIR_1|ENST00000248958|protein_coding|2/3|c.193G>A||||||,A|sequence_feature|LOW|SDF2L1|ENSG00000128228|domain:MIR_1|ENST00000248958|protein_coding|1/3|c.193G>A||||||,A|downstream_gene_variant|MODIFIER|KB-1440D3.14|ENSG00000273342|transcript|ENST00000609038|lincRNA||n.*441G>A|||||1583|,A|non_coding_exon_variant|MODIFIER|SDF2L1|ENSG00000128228|transcript|ENST00000466935|retained_intron|2/2|n.176G>A|||||| 22 21997251 . C G . . ANN=G|synonymous_variant|LOW|SDF2L1|ENSG00000128228|transcript|ENST00000248958|protein_coding|2/3|c.288C>G|p.Ser96Ser|364/865|288/666|96/221||,G|sequence_feature|LOW|SDF2L1|ENSG00000128228|domain:MIR_2|ENST00000248958|protein_coding|3/3|c.288C>G||||||,G|sequence_feature|LOW|SDF2L1|ENSG00000128228|domain:MIR_2|ENST00000248958|protein_coding|2/3|c.288C>G||||||,G|downstream_gene_variant|MODIFIER|KB-1440D3.14|ENSG00000273342|transcript|ENST00000609038|lincRNA||n.*441C>G|||||1678|,G|non_coding_exon_variant|MODIFIER|SDF2L1|ENSG00000128228|transcript|ENST00000466935|retained_intron|2/2|n.271C>G|||||| 22 21997326 . G A . . ANN=A|synonymous_variant|LOW|SDF2L1|ENSG00000128228|transcript|ENST00000248958|protein_coding|2/3|c.363G>A|p.Pro121Pro|439/865|363/666|121/221||,A|sequence_feature|LOW|SDF2L1|ENSG00000128228|domain:MIR_2|ENST00000248958|protein_coding|3/3|c.363G>A||||||,A|sequence_feature|LOW|SDF2L1|ENSG00000128228|domain:MIR_2|ENST00000248958|protein_coding|2/3|c.363G>A||||||,A|downstream_gene_variant|MODIFIER|KB-1440D3.14|ENSG00000273342|transcript|ENST00000609038|lincRNA||n.*441G>A|||||1753|,A|non_coding_exon_variant|MODIFIER|SDF2L1|ENSG00000128228|transcript|ENST00000466935|retained_intron|2/2|n.346G>A|||||| 22 21997385 . C T . . ANN=T|sequence_feature|LOW|SDF2L1|ENSG00000128228|domain:MIR_2|ENST00000248958|protein_coding|3/3|c.384+38C>T||||||,T|sequence_feature|LOW|SDF2L1|ENSG00000128228|domain:MIR_2|ENST00000248958|protein_coding|2/3|c.384+38C>T||||||,T|downstream_gene_variant|MODIFIER|KB-1440D3.14|ENSG00000273342|transcript|ENST00000609038|lincRNA||n.*441C>T|||||1812|,T|intron_variant|MODIFIER|SDF2L1|ENSG00000128228|transcript|ENST00000248958|protein_coding|2/2|c.384+38C>T||||||,T|non_coding_exon_variant|MODIFIER|SDF2L1|ENSG00000128228|transcript|ENST00000466935|retained_intron|2/2|n.405C>T|||||| 22 21998169 . C G . . ANN=G|sequence_feature|LOW|SDF2L1|ENSG00000128228|domain:MIR_2|ENST00000248958|protein_coding|3/3|c.385-14C>G||||||,G|sequence_feature|LOW|SDF2L1|ENSG00000128228|domain:MIR_2|ENST00000248958|protein_coding|2/3|c.385-14C>G||||||,G|downstream_gene_variant|MODIFIER|KB-1440D3.14|ENSG00000273342|transcript|ENST00000609038|lincRNA||n.*441C>G|||||2596|,G|downstream_gene_variant|MODIFIER|SDF2L1|ENSG00000128228|transcript|ENST00000466935|retained_intron||n.*601C>G|||||588|,G|intron_variant|MODIFIER|SDF2L1|ENSG00000128228|transcript|ENST00000248958|protein_coding|2/2|c.385-14C>G|||||| 22 21998215 . C T . . ANN=T|synonymous_variant|LOW|SDF2L1|ENSG00000128228|transcript|ENST00000248958|protein_coding|3/3|c.417C>T|p.Gly139Gly|493/865|417/666|139/221||,T|sequence_feature|LOW|SDF2L1|ENSG00000128228|domain:MIR_2|ENST00000248958|protein_coding|3/3|c.417C>T||||||,T|sequence_feature|LOW|SDF2L1|ENSG00000128228|domain:MIR_2|ENST00000248958|protein_coding|2/3|c.417C>T||||||,T|downstream_gene_variant|MODIFIER|KB-1440D3.14|ENSG00000273342|transcript|ENST00000609038|lincRNA||n.*441C>T|||||2642|,T|downstream_gene_variant|MODIFIER|SDF2L1|ENSG00000128228|transcript|ENST00000466935|retained_intron||n.*601C>T|||||634| 22 21998218 . C T . . ANN=T|synonymous_variant|LOW|SDF2L1|ENSG00000128228|transcript|ENST00000248958|protein_coding|3/3|c.420C>T|p.Asp140Asp|496/865|420/666|140/221||,T|sequence_feature|LOW|SDF2L1|ENSG00000128228|domain:MIR_2|ENST00000248958|protein_coding|3/3|c.420C>T||||||,T|sequence_feature|LOW|SDF2L1|ENSG00000128228|domain:MIR_2|ENST00000248958|protein_coding|2/3|c.420C>T||||||,T|downstream_gene_variant|MODIFIER|KB-1440D3.14|ENSG00000273342|transcript|ENST00000609038|lincRNA||n.*441C>T|||||2645|,T|downstream_gene_variant|MODIFIER|SDF2L1|ENSG00000128228|transcript|ENST00000466935|retained_intron||n.*601C>T|||||637| 22 21998219 . G A . . ANN=A|missense_variant|MODERATE|SDF2L1|ENSG00000128228|transcript|ENST00000248958|protein_coding|3/3|c.421G>A|p.Asp141Asn|497/865|421/666|141/221||,A|sequence_feature|LOW|SDF2L1|ENSG00000128228|domain:MIR_2|ENST00000248958|protein_coding|3/3|c.421G>A||||||,A|sequence_feature|LOW|SDF2L1|ENSG00000128228|domain:MIR_2|ENST00000248958|protein_coding|2/3|c.421G>A||||||,A|downstream_gene_variant|MODIFIER|KB-1440D3.14|ENSG00000273342|transcript|ENST00000609038|lincRNA||n.*441G>A|||||2646|,A|downstream_gene_variant|MODIFIER|SDF2L1|ENSG00000128228|transcript|ENST00000466935|retained_intron||n.*601G>A|||||638| 22 21998222 . C G . . ANN=G|missense_variant|MODERATE|SDF2L1|ENSG00000128228|transcript|ENST00000248958|protein_coding|3/3|c.424C>G|p.Leu142Val|500/865|424/666|142/221||,G|sequence_feature|LOW|SDF2L1|ENSG00000128228|domain:MIR_2|ENST00000248958|protein_coding|3/3|c.424C>G||||||,G|sequence_feature|LOW|SDF2L1|ENSG00000128228|domain:MIR_2|ENST00000248958|protein_coding|2/3|c.424C>G||||||,G|downstream_gene_variant|MODIFIER|KB-1440D3.14|ENSG00000273342|transcript|ENST00000609038|lincRNA||n.*441C>G|||||2649|,G|downstream_gene_variant|MODIFIER|SDF2L1|ENSG00000128228|transcript|ENST00000466935|retained_intron||n.*601C>G|||||641| 22 21998280 . G A . . ANN=A|missense_variant|MODERATE|SDF2L1|ENSG00000128228|transcript|ENST00000248958|protein_coding|3/3|c.482G>A|p.Arg161His|558/865|482/666|161/221||,A|sequence_feature|LOW|SDF2L1|ENSG00000128228|domain:MIR_3|ENST00000248958|protein_coding|3/3|c.482G>A||||||,A|downstream_gene_variant|MODIFIER|KB-1440D3.14|ENSG00000273342|transcript|ENST00000609038|lincRNA||n.*441G>A|||||2707|,A|downstream_gene_variant|MODIFIER|SDF2L1|ENSG00000128228|transcript|ENST00000466935|retained_intron||n.*601G>A|||||699| 22 21998310 . T C . . ANN=C|missense_variant|MODERATE|SDF2L1|ENSG00000128228|transcript|ENST00000248958|protein_coding|3/3|c.512T>C|p.Leu171Pro|588/865|512/666|171/221||,C|sequence_feature|LOW|SDF2L1|ENSG00000128228|domain:MIR_3|ENST00000248958|protein_coding|3/3|c.512T>C||||||,C|downstream_gene_variant|MODIFIER|KB-1440D3.14|ENSG00000273342|transcript|ENST00000609038|lincRNA||n.*441T>C|||||2737|,C|downstream_gene_variant|MODIFIER|SDF2L1|ENSG00000128228|transcript|ENST00000466935|retained_intron||n.*601T>C|||||729| 22 21998346 . G A . . ANN=A|missense_variant|MODERATE|SDF2L1|ENSG00000128228|transcript|ENST00000248958|protein_coding|3/3|c.548G>A|p.Arg183His|624/865|548/666|183/221||,A|sequence_feature|LOW|SDF2L1|ENSG00000128228|domain:MIR_3|ENST00000248958|protein_coding|3/3|c.548G>A||||||,A|downstream_gene_variant|MODIFIER|KB-1440D3.14|ENSG00000273342|transcript|ENST00000609038|lincRNA||n.*441G>A|||||2773|,A|downstream_gene_variant|MODIFIER|SDF2L1|ENSG00000128228|transcript|ENST00000466935|retained_intron||n.*601G>A|||||765| 22 21998448 . G A . . ANN=A|missense_variant|MODERATE|SDF2L1|ENSG00000128228|transcript|ENST00000248958|protein_coding|3/3|c.650G>A|p.Gly217Asp|726/865|650/666|217/221||,A|downstream_gene_variant|MODIFIER|KB-1440D3.14|ENSG00000273342|transcript|ENST00000609038|lincRNA||n.*441G>A|||||2875|,A|downstream_gene_variant|MODIFIER|SDF2L1|ENSG00000128228|transcript|ENST00000466935|retained_intron||n.*601G>A|||||867|,A|TF_binding_site_variant|MODIFIER|||CTCF|MA0139.1||||||||| 22 21998465 . GTGTGTGGATGGA G . . ANN=|3_prime_UTR_variant|MODIFIER|SDF2L1|ENSG00000128228|transcript|ENST00000248958|protein_coding|3/3|c.*4_*15delTGTGGATGGATG|||||4|INFO_REALIGN_3_PRIME,|downstream_gene_variant|MODIFIER|KB-1440D3.14|ENSG00000273342|transcript|ENST00000609038|lincRNA||n.*441_*441delTGTGTGGATGGA|||||2893|,|downstream_gene_variant|MODIFIER|SDF2L1|ENSG00000128228|transcript|ENST00000466935|retained_intron||n.*601_*601delTGTGTGGATGGA|||||885| 22 21998469 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|SDF2L1|ENSG00000128228|transcript|ENST00000248958|protein_coding|3/3|c.*5G>A|||||5|,A|downstream_gene_variant|MODIFIER|KB-1440D3.14|ENSG00000273342|transcript|ENST00000609038|lincRNA||n.*441G>A|||||2896|,A|downstream_gene_variant|MODIFIER|SDF2L1|ENSG00000128228|transcript|ENST00000466935|retained_intron||n.*601G>A|||||888| 22 21998472 . G T . . ANN=T|3_prime_UTR_variant|MODIFIER|SDF2L1|ENSG00000128228|transcript|ENST00000248958|protein_coding|3/3|c.*8G>T|||||8|,T|downstream_gene_variant|MODIFIER|KB-1440D3.14|ENSG00000273342|transcript|ENST00000609038|lincRNA||n.*441G>T|||||2899|,T|downstream_gene_variant|MODIFIER|SDF2L1|ENSG00000128228|transcript|ENST00000466935|retained_intron||n.*601G>T|||||891| 22 21998509 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|SDF2L1|ENSG00000128228|transcript|ENST00000248958|protein_coding|3/3|c.*45T>C|||||45|,C|downstream_gene_variant|MODIFIER|KB-1440D3.14|ENSG00000273342|transcript|ENST00000609038|lincRNA||n.*441T>C|||||2936|,C|downstream_gene_variant|MODIFIER|SDF2L1|ENSG00000128228|transcript|ENST00000466935|retained_intron||n.*601T>C|||||928| 22 22020347 . C T . . ANN=T|5_prime_UTR_premature_start_codon_gain_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|1/21|c.-42C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|1/21|c.-42C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|1/21|c.-42C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|1/20|c.-42C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000458567|protein_coding|1/8|c.-42C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|1/22|n.-42C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|1/21|c.-42C>T||||||,T|5_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|1/21|c.-42C>T|||||42|,T|5_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|1/21|c.-42C>T|||||42|,T|5_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|1/21|c.-42C>T|||||42|,T|5_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|1/20|c.-42C>T|||||42|,T|5_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000458567|protein_coding|1/8|c.-42C>T|||||42|WARNING_TRANSCRIPT_NO_STOP_CODON,T|5_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|1/22|n.-42C>T|||||42|,T|5_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|1/21|c.-42C>T|||||42|,T|upstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding||c.-32C>T|||||11|,T|upstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000498109|retained_intron||n.-1C>T|||||21|,T|downstream_gene_variant|MODIFIER|KB-1440D3.13|ENSG00000272954|transcript|ENST00000610143|sense_intronic||n.*430C>T|||||3695|,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000498589|processed_transcript|6/6|n.769-3855C>T||||||,T|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000496819|retained_intron|1/2|n.50C>T||||||,T|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|1/22|n.-42C>T||||||,T|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000484439|processed_transcript|1/11|n.30C>T|||||| 22 22024156 . C T . . ANN=T|upstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000485930|processed_transcript||n.-1C>T|||||2463|,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|1/20|c.33-46C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000498589|processed_transcript|6/6|n.769-46C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000496819|retained_intron|1/1|n.124-46C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|1/20|c.33-46C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|1/20|c.33-46C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|1/19|c.33-46C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000458567|protein_coding|2/7|c.126-46C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|1/21|n.33-46C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000484439|processed_transcript|1/10|n.104-46C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|1/20|c.33-46C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|1/19|c.33-46C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000498109|retained_intron|1/2|n.54-46C>T|||||| 22 22024279 . G A . . ANN=A|upstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000485930|processed_transcript||n.-1G>A|||||2340|,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|2/20|c.82+28G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|2/20|c.82+28G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|2/20|c.82+28G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|2/19|c.82+28G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000458567|protein_coding|3/7|c.175+28G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|2/21|n.82+28G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000484439|processed_transcript|2/10|n.153+28G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|2/20|c.82+28G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|2/19|c.82+28G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000498109|retained_intron|2/2|n.103+28G>A||||||,A|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000498589|processed_transcript|7/7|n.846G>A||||||,A|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000496819|retained_intron|2/2|n.201G>A|||||| 22 22024281 . T C . . ANN=C|upstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000485930|processed_transcript||n.-1T>C|||||2338|,C|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|2/20|c.82+30T>C||||||,C|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|2/20|c.82+30T>C||||||,C|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|2/20|c.82+30T>C||||||,C|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|2/19|c.82+30T>C||||||,C|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000458567|protein_coding|3/7|c.175+30T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|2/21|n.82+30T>C||||||,C|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000484439|processed_transcript|2/10|n.153+30T>C||||||,C|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|2/20|c.82+30T>C||||||,C|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|2/19|c.82+30T>C||||||,C|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000498109|retained_intron|2/2|n.103+30T>C||||||,C|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000498589|processed_transcript|7/7|n.848T>C||||||,C|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000496819|retained_intron|2/2|n.203T>C|||||| 22 22024820 . G A . . ANN=A|upstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000485930|processed_transcript||n.-1G>A|||||1799|,A|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000498589|processed_transcript||n.*1093G>A|||||294|,A|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000496819|retained_intron||n.*494G>A|||||248|,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|2/20|c.83-35G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|2/20|c.83-35G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|2/20|c.83-35G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|2/19|c.83-35G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000458567|protein_coding|3/7|c.176-35G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|3/21|n.*19-35G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000484439|processed_transcript|3/10|n.267-35G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|2/20|c.83-35G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|2/19|c.83-35G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000498109|retained_intron|2/2|n.104-35G>A|||||| 22 22024868 . A G . . ANN=G|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|3/21|c.96A>G|p.Thr32Thr|212/2709|96/1584|32/527||,G|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|3/21|c.96A>G|p.Thr32Thr|187/4929|96/1563|32/520||,G|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|3/21|c.96A>G|p.Thr32Thr|174/1841|96/1563|32/520||,G|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|3/20|c.96A>G|p.Thr32Thr|174/2574|96/1563|32/520||,G|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000458567|protein_coding|4/8|c.189A>G|p.Thr63Thr|266/557|189/480|63/159||WARNING_TRANSCRIPT_NO_STOP_CODON,G|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|3/21|c.96A>G|p.Thr32Thr|156/3875|96/1563|32/520||,G|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|3/20|c.96A>G|p.Thr32Thr|127/1870|96/1470|32/489||,G|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|4/22|n.*32A>G|||||237|,G|upstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000485930|processed_transcript||n.-1A>G|||||1751|,G|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000498589|processed_transcript||n.*1093A>G|||||342|,G|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000496819|retained_intron||n.*494A>G|||||296|,G|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|4/22|n.*32A>G||||||,G|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000484439|processed_transcript|4/11|n.280A>G||||||,G|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000498109|retained_intron|3/3|n.117A>G|||||| 22 22024887 . T C . . ANN=C|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|3/21|c.115T>C|p.Phe39Leu|231/2709|115/1584|39/527||,C|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|3/21|c.115T>C|p.Phe39Leu|206/4929|115/1563|39/520||,C|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|3/21|c.115T>C|p.Phe39Leu|193/1841|115/1563|39/520||,C|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|3/20|c.115T>C|p.Phe39Leu|193/2574|115/1563|39/520||,C|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000458567|protein_coding|4/8|c.208T>C|p.Phe70Leu|285/557|208/480|70/159||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|3/21|c.115T>C|p.Phe39Leu|175/3875|115/1563|39/520||,C|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|3/20|c.115T>C|p.Phe39Leu|146/1870|115/1470|39/489||,C|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000412327|protein_coding|3/21|c.115T>C||||||,C|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000412327|protein_coding|6/21|c.115T>C||||||,C|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000412327|protein_coding|4/21|c.115T>C||||||,C|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000412327|protein_coding|5/21|c.115T>C||||||,C|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000412327|protein_coding|7/21|c.115T>C||||||,C|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000492445|protein_coding|3/21|c.115T>C||||||,C|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000492445|protein_coding|6/21|c.115T>C||||||,C|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000492445|protein_coding|4/21|c.115T>C||||||,C|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000492445|protein_coding|5/21|c.115T>C||||||,C|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000492445|protein_coding|7/21|c.115T>C||||||,C|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|4/22|n.*51T>C|||||256|,C|upstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000485930|processed_transcript||n.-1T>C|||||1732|,C|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000498589|processed_transcript||n.*1093T>C|||||361|,C|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000496819|retained_intron||n.*494T>C|||||315|,C|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|4/22|n.*51T>C||||||,C|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000484439|processed_transcript|4/11|n.299T>C||||||,C|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000498109|retained_intron|3/3|n.136T>C|||||| 22 22024920 . A ACCTTTC . . ANN=CCTTTC|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000412327|protein_coding|3/21|c.128+20_128+21insCCTTTC||||||,CCTTTC|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000412327|protein_coding|6/21|c.128+20_128+21insCCTTTC||||||,CCTTTC|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000412327|protein_coding|4/21|c.128+20_128+21insCCTTTC||||||,CCTTTC|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000412327|protein_coding|5/21|c.128+20_128+21insCCTTTC||||||,CCTTTC|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000412327|protein_coding|7/21|c.128+20_128+21insCCTTTC||||||,CCTTTC|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000492445|protein_coding|3/21|c.128+20_128+21insCCTTTC||||||,CCTTTC|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000492445|protein_coding|6/21|c.128+20_128+21insCCTTTC||||||,CCTTTC|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000492445|protein_coding|4/21|c.128+20_128+21insCCTTTC||||||,CCTTTC|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000492445|protein_coding|5/21|c.128+20_128+21insCCTTTC||||||,CCTTTC|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000492445|protein_coding|7/21|c.128+20_128+21insCCTTTC||||||,CCTTTC|upstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000485930|processed_transcript||n.-1_-1insCCTTTC|||||1698|,CCTTTC|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000498589|processed_transcript||n.*1093_*1093insCCTTTC|||||395|,CCTTTC|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000496819|retained_intron||n.*494_*494insCCTTTC|||||349|,TCCCTT|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|3/20|c.128+25_128+30dupTCCCTT||||||INFO_REALIGN_3_PRIME,TCCCTT|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|3/20|c.128+25_128+30dupTCCCTT||||||INFO_REALIGN_3_PRIME,TCCCTT|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|3/20|c.128+25_128+30dupTCCCTT||||||INFO_REALIGN_3_PRIME,TCCCTT|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|3/19|c.128+25_128+30dupTCCCTT||||||INFO_REALIGN_3_PRIME,TCCCTT|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000458567|protein_coding|4/7|c.221+25_221+30dupTCCCTT||||||WARNING_TRANSCRIPT_NO_STOP_CODON&INFO_REALIGN_3_PRIME,TCCCTT|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|4/21|n.*64+25_*64+30dupTCCCTT||||||INFO_REALIGN_3_PRIME,TCCCTT|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000484439|processed_transcript|4/10|n.312+25_312+30dupTCCCTT||||||INFO_REALIGN_3_PRIME,TCCCTT|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|3/20|c.128+25_128+30dupTCCCTT||||||INFO_REALIGN_3_PRIME,TCCCTT|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|3/19|c.128+25_128+30dupTCCCTT||||||INFO_REALIGN_3_PRIME,TCCCTT|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000498109|retained_intron|3/3|n.174_179dupTCCCTT||||||INFO_REALIGN_3_PRIME 22 22025334 . C T . . ANN=T|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|4/21|c.177C>T|p.Ile59Ile|293/2709|177/1584|59/527||,T|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|4/21|c.177C>T|p.Ile59Ile|268/4929|177/1563|59/520||,T|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|4/21|c.177C>T|p.Ile59Ile|255/1841|177/1563|59/520||,T|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|4/20|c.177C>T|p.Ile59Ile|255/2574|177/1563|59/520||,T|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000458567|protein_coding|5/8|c.270C>T|p.Ile90Ile|347/557|270/480|90/159||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|4/21|c.177C>T|p.Ile59Ile|237/3875|177/1563|59/520||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000412327|protein_coding|3/21|c.177C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000412327|protein_coding|6/21|c.177C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000412327|protein_coding|4/21|c.177C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000412327|protein_coding|5/21|c.177C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000412327|protein_coding|7/21|c.177C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000492445|protein_coding|3/21|c.177C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000492445|protein_coding|6/21|c.177C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000492445|protein_coding|4/21|c.177C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000492445|protein_coding|5/21|c.177C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000492445|protein_coding|7/21|c.177C>T||||||,T|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|5/22|n.*113C>T|||||703|,T|upstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000485930|processed_transcript||n.-1C>T|||||1285|,T|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000498589|processed_transcript||n.*1093C>T|||||808|,T|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000496819|retained_intron||n.*494C>T|||||762|,T|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000498109|retained_intron||n.*563C>T|||||20|,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|3/19|c.128+434C>T||||||,T|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|5/22|n.*113C>T||||||,T|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000484439|processed_transcript|5/11|n.361C>T|||||| 22 22026654 . A G . . ANN=G|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|5/21|c.227A>G|p.Asn76Ser|343/2709|227/1584|76/527||,G|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|5/21|c.227A>G|p.Asn76Ser|318/4929|227/1563|76/520||,G|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|5/21|c.227A>G|p.Asn76Ser|305/1841|227/1563|76/520||,G|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|5/20|c.227A>G|p.Asn76Ser|305/2574|227/1563|76/520||,G|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000458567|protein_coding|6/8|c.320A>G|p.Asn107Ser|397/557|320/480|107/159||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|5/21|c.227A>G|p.Asn76Ser|287/3875|227/1563|76/520||,G|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|4/20|c.164A>G|p.Asn55Ser|195/1870|164/1470|55/489||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000412327|protein_coding|3/21|c.227A>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000412327|protein_coding|6/21|c.227A>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000412327|protein_coding|4/21|c.227A>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000412327|protein_coding|5/21|c.227A>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000412327|protein_coding|7/21|c.227A>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000492445|protein_coding|3/21|c.227A>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000492445|protein_coding|6/21|c.227A>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000492445|protein_coding|4/21|c.227A>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000492445|protein_coding|5/21|c.227A>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000492445|protein_coding|7/21|c.227A>G||||||,G|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|6/22|n.*163A>G|||||2023|,G|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000498589|processed_transcript||n.*1093A>G|||||2128|,G|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000496819|retained_intron||n.*494A>G|||||2082|,G|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000498109|retained_intron||n.*563A>G|||||1340|,G|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|6/22|n.*163A>G||||||,G|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000484439|processed_transcript|6/11|n.411A>G||||||,G|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000485930|processed_transcript|1/2|n.36A>G|||||| 22 22026704 . G A . . ANN=A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000412327|protein_coding|3/21|c.243+34G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000412327|protein_coding|6/21|c.243+34G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000412327|protein_coding|4/21|c.243+34G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000412327|protein_coding|5/21|c.243+34G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000412327|protein_coding|7/21|c.243+34G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000492445|protein_coding|3/21|c.243+34G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000492445|protein_coding|6/21|c.243+34G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000492445|protein_coding|4/21|c.243+34G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000492445|protein_coding|5/21|c.243+34G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000492445|protein_coding|7/21|c.243+34G>A||||||,A|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000498589|processed_transcript||n.*1093G>A|||||2178|,A|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000496819|retained_intron||n.*494G>A|||||2132|,A|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000498109|retained_intron||n.*563G>A|||||1390|,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|5/20|c.243+34G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|5/20|c.243+34G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|5/20|c.243+34G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|5/19|c.243+34G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000458567|protein_coding|6/7|c.336+34G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|6/21|n.*179+34G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000484439|processed_transcript|6/10|n.427+34G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|5/20|c.243+34G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|4/19|c.180+34G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000485930|processed_transcript|1/1|n.52+34G>A|||||| 22 22029451 . A G . . ANN=G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000412327|protein_coding|3/21|c.295+47A>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000412327|protein_coding|6/21|c.295+47A>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000412327|protein_coding|4/21|c.295+47A>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000412327|protein_coding|5/21|c.295+47A>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000412327|protein_coding|7/21|c.295+47A>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000492445|protein_coding|3/21|c.295+47A>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000492445|protein_coding|6/21|c.295+47A>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000492445|protein_coding|4/21|c.295+47A>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000492445|protein_coding|5/21|c.295+47A>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000492445|protein_coding|7/21|c.295+47A>G||||||,G|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000498589|processed_transcript||n.*1093A>G|||||4925|,G|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000496819|retained_intron||n.*494A>G|||||4879|,G|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000498109|retained_intron||n.*563A>G|||||4137|,G|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000485930|processed_transcript||n.*149A>G|||||1553|,G|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|6/20|c.295+47A>G||||||,G|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|6/20|c.295+47A>G||||||,G|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|6/20|c.295+47A>G||||||,G|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|6/19|c.295+47A>G||||||,G|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000458567|protein_coding|7/7|c.388+47A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|7/21|n.*231+47A>G||||||,G|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000484439|processed_transcript|7/10|n.479+47A>G||||||,G|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|6/20|c.295+47A>G||||||,G|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|5/19|c.232+47A>G|||||| 22 22035555 . T C . . ANN=C|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000412327|protein_coding|3/21|c.296-33T>C||||||,C|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000412327|protein_coding|6/21|c.296-33T>C||||||,C|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000412327|protein_coding|4/21|c.296-33T>C||||||,C|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000412327|protein_coding|5/21|c.296-33T>C||||||,C|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000412327|protein_coding|7/21|c.296-33T>C||||||,C|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000492445|protein_coding|3/21|c.296-33T>C||||||,C|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000492445|protein_coding|6/21|c.296-33T>C||||||,C|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000492445|protein_coding|4/21|c.296-33T>C||||||,C|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000492445|protein_coding|5/21|c.296-33T>C||||||,C|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000492445|protein_coding|7/21|c.296-33T>C||||||,C|upstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript||n.-1T>C|||||4407|,C|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|6/20|c.296-33T>C||||||,C|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|6/20|c.296-33T>C||||||,C|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|6/20|c.296-33T>C||||||,C|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|6/19|c.296-33T>C||||||,C|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000458567|protein_coding|7/7|c.389-33T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|7/21|n.*232-33T>C||||||,C|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000484439|processed_transcript|7/10|n.480-33T>C||||||,C|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|6/20|c.296-33T>C||||||,C|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|5/19|c.233-33T>C|||||| 22 22035664 . C T . . ANN=T|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|7/21|c.372C>T|p.Asn124Asn|488/2709|372/1584|124/527||,T|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|7/21|c.372C>T|p.Asn124Asn|463/4929|372/1563|124/520||,T|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|7/21|c.372C>T|p.Asn124Asn|450/1841|372/1563|124/520||,T|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|7/20|c.372C>T|p.Asn124Asn|450/2574|372/1563|124/520||,T|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000458567|protein_coding|8/8|c.465C>T|p.Asn155Asn|542/557|465/480|155/159||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|7/21|c.372C>T|p.Asn124Asn|432/3875|372/1563|124/520||,T|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|6/20|c.309C>T|p.Asn103Asn|340/1870|309/1470|103/489||,T|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|8/22|n.*308C>T|||||11033|,T|upstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript||n.-1C>T|||||4298|,T|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|8/22|n.*308C>T||||||,T|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000484439|processed_transcript|8/11|n.556C>T|||||| 22 22035685 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|7/20|c.387+6T>C||||||,C|splice_region_variant&intron_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|7/20|c.387+6T>C||||||,C|splice_region_variant&intron_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|7/20|c.387+6T>C||||||,C|splice_region_variant&intron_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|7/19|c.387+6T>C||||||,C|splice_region_variant&intron_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|8/21|n.*323+6T>C||||||,C|splice_region_variant&intron_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000484439|processed_transcript|8/10|n.571+6T>C||||||,C|splice_region_variant&intron_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|7/20|c.387+6T>C||||||,C|splice_region_variant&intron_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|6/19|c.324+6T>C||||||,C|upstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript||n.-1T>C|||||4277|,C|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000458567|protein_coding||c.*557T>C|||||6|WARNING_TRANSCRIPT_NO_STOP_CODON 22 22035694 . C T . . ANN=T|upstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript||n.-1C>T|||||4268|,T|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000458567|protein_coding||c.*557C>T|||||15|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|7/20|c.387+15C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|7/20|c.387+15C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|7/20|c.387+15C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|7/19|c.387+15C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|8/21|n.*323+15C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000484439|processed_transcript|8/10|n.571+15C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|7/20|c.387+15C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|6/19|c.324+15C>T|||||| 22 22036763 . G A . . ANN=A|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|8/21|c.425G>A|p.Arg142Gln|541/2709|425/1584|142/527||,A|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|8/21|c.425G>A|p.Arg142Gln|516/4929|425/1563|142/520||,A|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|8/21|c.425G>A|p.Arg142Gln|503/1841|425/1563|142/520||,A|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|8/20|c.425G>A|p.Arg142Gln|503/2574|425/1563|142/520||,A|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|8/21|c.425G>A|p.Arg142Gln|485/3875|425/1563|142/520||,A|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|7/20|c.362G>A|p.Arg121Gln|393/1870|362/1470|121/489||,A|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|9/22|n.*361G>A|||||12132|,A|upstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript||n.-1G>A|||||3199|,A|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000458567|protein_coding||c.*557G>A|||||1084|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|9/22|n.*361G>A||||||,A|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000484439|processed_transcript|9/11|n.609G>A|||||| 22 22036768 . C T . . ANN=T|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|8/21|c.430C>T|p.Leu144Leu|546/2709|430/1584|144/527||,T|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|8/21|c.430C>T|p.Leu144Leu|521/4929|430/1563|144/520||,T|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|8/21|c.430C>T|p.Leu144Leu|508/1841|430/1563|144/520||,T|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|8/20|c.430C>T|p.Leu144Leu|508/2574|430/1563|144/520||,T|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|8/21|c.430C>T|p.Leu144Leu|490/3875|430/1563|144/520||,T|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|7/20|c.367C>T|p.Leu123Leu|398/1870|367/1470|123/489||,T|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|9/22|n.*366C>T|||||12137|,T|upstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript||n.-1C>T|||||3194|,T|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000458567|protein_coding||c.*557C>T|||||1089|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|9/22|n.*366C>T||||||,T|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000484439|processed_transcript|9/11|n.614C>T|||||| 22 22036780 . G A . . ANN=A|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|8/21|c.442G>A|p.Glu148Lys|558/2709|442/1584|148/527||,A|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|8/21|c.442G>A|p.Glu148Lys|533/4929|442/1563|148/520||,A|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|8/21|c.442G>A|p.Glu148Lys|520/1841|442/1563|148/520||,A|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|8/20|c.442G>A|p.Glu148Lys|520/2574|442/1563|148/520||,A|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|8/21|c.442G>A|p.Glu148Lys|502/3875|442/1563|148/520||,A|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|7/20|c.379G>A|p.Glu127Lys|410/1870|379/1470|127/489||,A|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|9/22|n.*378G>A|||||12149|,A|upstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript||n.-1G>A|||||3182|,A|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000458567|protein_coding||c.*557G>A|||||1101|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|9/22|n.*378G>A||||||,A|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000484439|processed_transcript|9/11|n.626G>A|||||| 22 22036792 . C A . . ANN=A|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|8/21|c.454C>A|p.Arg152Arg|570/2709|454/1584|152/527||,A|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|8/21|c.454C>A|p.Arg152Arg|545/4929|454/1563|152/520||,A|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|8/21|c.454C>A|p.Arg152Arg|532/1841|454/1563|152/520||,A|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|8/20|c.454C>A|p.Arg152Arg|532/2574|454/1563|152/520||,A|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|8/21|c.454C>A|p.Arg152Arg|514/3875|454/1563|152/520||,A|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|7/20|c.391C>A|p.Arg131Arg|422/1870|391/1470|131/489||,A|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|9/22|n.*390C>A|||||12161|,A|upstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript||n.-1C>A|||||3170|,A|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000458567|protein_coding||c.*557C>A|||||1113|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|9/22|n.*390C>A||||||,A|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000484439|processed_transcript|9/11|n.638C>A|||||| 22 22036812 . C T . . ANN=T|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|8/21|c.474C>T|p.Leu158Leu|590/2709|474/1584|158/527||,T|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|8/21|c.474C>T|p.Leu158Leu|565/4929|474/1563|158/520||,T|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|8/21|c.474C>T|p.Leu158Leu|552/1841|474/1563|158/520||,T|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|8/20|c.474C>T|p.Leu158Leu|552/2574|474/1563|158/520||,T|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|8/21|c.474C>T|p.Leu158Leu|534/3875|474/1563|158/520||,T|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|7/20|c.411C>T|p.Leu137Leu|442/1870|411/1470|137/489||,T|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|9/22|n.*410C>T|||||12181|,T|upstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript||n.-1C>T|||||3150|,T|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000458567|protein_coding||c.*557C>T|||||1133|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|9/22|n.*410C>T||||||,T|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000484439|processed_transcript|9/11|n.658C>T|||||| 22 22036832 . T C . . ANN=C|upstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript||n.-1T>C|||||3130|,C|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000458567|protein_coding||c.*557T>C|||||1153|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|8/20|c.477+17T>C||||||,C|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|8/20|c.477+17T>C||||||,C|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|8/20|c.477+17T>C||||||,C|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|8/19|c.477+17T>C||||||,C|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|9/21|n.*413+17T>C||||||,C|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000484439|processed_transcript|9/10|n.661+17T>C||||||,C|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|8/20|c.477+17T>C||||||,C|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|7/19|c.414+17T>C|||||| 22 22037427 . C T . . ANN=T|upstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript||n.-1C>T|||||2535|,T|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000458567|protein_coding||c.*557C>T|||||1748|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|8/20|c.478-44C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|8/20|c.478-44C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|8/20|c.478-44C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|8/19|c.478-44C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|9/21|n.*414-44C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000484439|processed_transcript|9/10|n.662-44C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|8/20|c.478-44C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|7/19|c.415-44C>T|||||| 22 22037524 . T C . . ANN=C|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|9/21|c.531T>C|p.Asn177Asn|647/2709|531/1584|177/527||,C|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|9/21|c.531T>C|p.Asn177Asn|622/4929|531/1563|177/520||,C|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|9/21|c.531T>C|p.Asn177Asn|609/1841|531/1563|177/520||,C|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|9/20|c.531T>C|p.Asn177Asn|609/2574|531/1563|177/520||,C|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|9/21|c.531T>C|p.Asn177Asn|591/3875|531/1563|177/520||,C|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|8/20|c.468T>C|p.Asn156Asn|499/1870|468/1470|156/489||,C|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|10/22|n.*467T>C|||||12893|,C|upstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript||n.-1T>C|||||2438|,C|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000458567|protein_coding||c.*557T>C|||||1845|WARNING_TRANSCRIPT_NO_STOP_CODON,C|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|10/22|n.*467T>C||||||,C|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000484439|processed_transcript|10/11|n.715T>C|||||| 22 22037575 . G A . . ANN=A|upstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript||n.-1G>A|||||2387|,A|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000458567|protein_coding||c.*557G>A|||||1896|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|9/20|c.553+29G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|9/20|c.553+29G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|9/20|c.553+29G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|9/19|c.553+29G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|10/21|n.*489+29G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000484439|processed_transcript|10/10|n.737+29G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|9/20|c.553+29G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|8/19|c.490+29G>A|||||| 22 22037580 . G A . . ANN=A|upstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript||n.-1G>A|||||2382|,A|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000458567|protein_coding||c.*557G>A|||||1901|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|9/20|c.553+34G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|9/20|c.553+34G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|9/20|c.553+34G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|9/19|c.553+34G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|10/21|n.*489+34G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000484439|processed_transcript|10/10|n.737+34G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|9/20|c.553+34G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|8/19|c.490+34G>A|||||| 22 22039199 . C T . . ANN=T|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|10/21|c.711C>T|p.Asn237Asn|827/2709|711/1584|237/527||,T|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|10/21|c.711C>T|p.Asn237Asn|802/4929|711/1563|237/520||,T|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|10/21|c.711C>T|p.Asn237Asn|789/1841|711/1563|237/520||,T|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|10/20|c.711C>T|p.Asn237Asn|789/2574|711/1563|237/520||,T|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|10/21|c.711C>T|p.Asn237Asn|771/3875|711/1563|237/520||,T|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|9/20|c.648C>T|p.Asn216Asn|679/1870|648/1470|216/489||,T|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|11/22|n.*647C>T|||||14568|,T|upstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript||n.-1C>T|||||763|,T|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000458567|protein_coding||c.*557C>T|||||3520|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000484439|processed_transcript||n.*863C>T|||||32|,T|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|11/22|n.*647C>T|||||| 22 22039211 . C T . . ANN=T|upstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript||n.-1C>T|||||751|,T|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000458567|protein_coding||c.*557C>T|||||3532|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000484439|processed_transcript||n.*863C>T|||||44|,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|10/20|c.714+9C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|10/20|c.714+9C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|10/20|c.714+9C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|10/19|c.714+9C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|11/21|n.*650+9C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|10/20|c.714+9C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|9/19|c.651+9C>T|||||| 22 22039212 . G A . . ANN=A|upstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript||n.-1G>A|||||750|,A|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000458567|protein_coding||c.*557G>A|||||3533|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000484439|processed_transcript||n.*863G>A|||||45|,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|10/20|c.714+10G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|10/20|c.714+10G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|10/20|c.714+10G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|10/19|c.714+10G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|11/21|n.*650+10G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|10/20|c.714+10G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|9/19|c.651+10G>A|||||| 22 22039219 . A T . . ANN=T|upstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript||n.-1A>T|||||743|,T|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000458567|protein_coding||c.*557A>T|||||3540|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000484439|processed_transcript||n.*863A>T|||||52|,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|10/20|c.714+17A>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|10/20|c.714+17A>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|10/20|c.714+17A>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|10/19|c.714+17A>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|11/21|n.*650+17A>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|10/20|c.714+17A>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|9/19|c.651+17A>T|||||| 22 22039222 . C T . . ANN=T|upstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript||n.-1C>T|||||740|,T|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000458567|protein_coding||c.*557C>T|||||3543|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000484439|processed_transcript||n.*863C>T|||||55|,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|10/20|c.714+20C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|10/20|c.714+20C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|10/20|c.714+20C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|10/19|c.714+20C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|11/21|n.*650+20C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|10/20|c.714+20C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|9/19|c.651+20C>T|||||| 22 22040750 . G A . . ANN=A|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000484439|processed_transcript||n.*863G>A|||||1583|,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|10/20|c.715-22G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|10/20|c.715-22G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|10/20|c.715-22G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|10/19|c.715-22G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|12/21|n.*740-22G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|10/20|c.715-22G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|9/19|c.652-22G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript|1/11|n.55-22G>A|||||| 22 22040792 . G A . . ANN=A|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|11/21|c.735G>A|p.Lys245Lys|851/2709|735/1584|245/527||,A|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|11/21|c.735G>A|p.Lys245Lys|826/4929|735/1563|245/520||,A|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|11/21|c.735G>A|p.Lys245Lys|813/1841|735/1563|245/520||,A|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|11/20|c.735G>A|p.Lys245Lys|813/2574|735/1563|245/520||,A|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|11/21|c.735G>A|p.Lys245Lys|795/3875|735/1563|245/520||,A|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|10/20|c.672G>A|p.Lys224Lys|703/1870|672/1470|224/489||,A|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|13/22|n.*760G>A|||||16161|,A|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000484439|processed_transcript||n.*863G>A|||||1625|,A|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|13/22|n.*760G>A||||||,A|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript|2/12|n.75G>A|||||| 22 22040828 . G A . . ANN=A|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|11/21|c.771G>A|p.Pro257Pro|887/2709|771/1584|257/527||,A|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|11/21|c.771G>A|p.Pro257Pro|862/4929|771/1563|257/520||,A|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|11/21|c.771G>A|p.Pro257Pro|849/1841|771/1563|257/520||,A|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|11/20|c.771G>A|p.Pro257Pro|849/2574|771/1563|257/520||,A|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|11/21|c.771G>A|p.Pro257Pro|831/3875|771/1563|257/520||,A|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|10/20|c.708G>A|p.Pro236Pro|739/1870|708/1470|236/489||,A|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|13/22|n.*796G>A|||||16197|,A|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000484439|processed_transcript||n.*863G>A|||||1661|,A|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|13/22|n.*796G>A||||||,A|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript|2/12|n.111G>A|||||| 22 22040836 . C T . . ANN=T|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|11/21|c.779C>T|p.Thr260Ile|895/2709|779/1584|260/527||,T|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|11/21|c.779C>T|p.Thr260Ile|870/4929|779/1563|260/520||,T|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|11/21|c.779C>T|p.Thr260Ile|857/1841|779/1563|260/520||,T|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|11/20|c.779C>T|p.Thr260Ile|857/2574|779/1563|260/520||,T|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|11/21|c.779C>T|p.Thr260Ile|839/3875|779/1563|260/520||,T|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|10/20|c.716C>T|p.Thr239Ile|747/1870|716/1470|239/489||,T|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|13/22|n.*804C>T|||||16205|,T|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000484439|processed_transcript||n.*863C>T|||||1669|,T|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|13/22|n.*804C>T||||||,T|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript|2/12|n.119C>T|||||| 22 22040884 . A T . . ANN=T|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000484439|processed_transcript||n.*863A>T|||||1717|,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|11/20|c.790+37A>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|11/20|c.790+37A>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|11/20|c.790+37A>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|11/19|c.790+37A>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|13/21|n.*815+37A>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|11/20|c.790+37A>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|10/19|c.727+37A>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript|2/11|n.130+37A>T|||||| 22 22041179 . A C . . ANN=C|splice_acceptor_variant&intron_variant|HIGH|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|11/20|c.791-2A>C||||||,C|splice_acceptor_variant&intron_variant|HIGH|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|11/20|c.791-2A>C||||||,C|splice_acceptor_variant&intron_variant|HIGH|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|11/20|c.791-2A>C||||||,C|splice_acceptor_variant&intron_variant|HIGH|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|11/19|c.791-2A>C||||||,C|splice_acceptor_variant&intron_variant|HIGH|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|13/21|n.*816-2A>C||||||,C|splice_acceptor_variant&intron_variant|HIGH|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|11/20|c.791-2A>C||||||,C|splice_acceptor_variant&intron_variant|HIGH|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|10/19|c.728-2A>C||||||,C|splice_acceptor_variant&intron_variant|HIGH|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript|2/11|n.131-2A>C||||||,C|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000484439|processed_transcript||n.*863A>C|||||2012|;LOF=(PPIL2|ENSG00000100023|15|0.40) 22 22041275 . G A . . ANN=A|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|12/21|c.885G>A|p.Leu295Leu|1001/2709|885/1584|295/527||,A|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|12/21|c.885G>A|p.Leu295Leu|976/4929|885/1563|295/520||,A|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|12/21|c.885G>A|p.Leu295Leu|963/1841|885/1563|295/520||,A|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|12/20|c.885G>A|p.Leu295Leu|963/2574|885/1563|295/520||,A|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|12/21|c.885G>A|p.Leu295Leu|945/3875|885/1563|295/520||,A|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|11/20|c.822G>A|p.Leu274Leu|853/1870|822/1470|274/489||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|13/21|c.885G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|18/21|c.885G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|14/21|c.885G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|15/21|c.885G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|12/21|c.885G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|17/21|c.885G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|16/21|c.885G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|beta_strand|ENST00000412327|protein_coding|12/21|c.885G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|13/21|c.885G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|18/21|c.885G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|14/21|c.885G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|15/21|c.885G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|12/21|c.885G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|17/21|c.885G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|16/21|c.885G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|beta_strand|ENST00000492445|protein_coding|12/21|c.885G>A||||||,A|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|14/22|n.*910G>A|||||16644|,A|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000484439|processed_transcript||n.*863G>A|||||2108|,A|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|14/22|n.*910G>A||||||,A|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript|3/12|n.225G>A|||||| 22 22041882 . C T . . ANN=T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|13/21|c.898-50C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|18/21|c.898-50C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|14/21|c.898-50C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|15/21|c.898-50C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|12/21|c.898-50C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|17/21|c.898-50C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|16/21|c.898-50C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|13/21|c.898-50C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|18/21|c.898-50C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|14/21|c.898-50C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|15/21|c.898-50C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|12/21|c.898-50C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|17/21|c.898-50C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|16/21|c.898-50C>T||||||,T|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000484439|processed_transcript||n.*863C>T|||||2715|,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|12/20|c.898-50C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|12/20|c.898-50C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|12/20|c.898-50C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|12/19|c.898-50C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|14/21|n.*923-50C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|12/20|c.898-50C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|11/19|c.835-50C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript|3/11|n.238-50C>T|||||| 22 22041889 . T TG . . ANN=G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|13/21|c.898-43_898-42insG||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|18/21|c.898-43_898-42insG||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|14/21|c.898-43_898-42insG||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|15/21|c.898-43_898-42insG||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|12/21|c.898-43_898-42insG||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|17/21|c.898-43_898-42insG||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|16/21|c.898-43_898-42insG||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|13/21|c.898-43_898-42insG||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|18/21|c.898-43_898-42insG||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|14/21|c.898-43_898-42insG||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|15/21|c.898-43_898-42insG||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|12/21|c.898-43_898-42insG||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|17/21|c.898-43_898-42insG||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|16/21|c.898-43_898-42insG||||||,G|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000484439|processed_transcript||n.*863_*863insG|||||2723|,G|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|12/20|c.898-41dupG||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|12/20|c.898-41dupG||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|12/20|c.898-41dupG||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|12/19|c.898-41dupG||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|14/21|n.*923-41dupG||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|12/20|c.898-41dupG||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|11/19|c.835-41dupG||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript|3/11|n.238-41dupG||||||INFO_REALIGN_3_PRIME 22 22041982 . C T . . ANN=T|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|13/21|c.948C>T|p.Tyr316Tyr|1064/2709|948/1584|316/527||,T|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|13/21|c.948C>T|p.Tyr316Tyr|1039/4929|948/1563|316/520||,T|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|13/21|c.948C>T|p.Tyr316Tyr|1026/1841|948/1563|316/520||,T|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|13/20|c.948C>T|p.Tyr316Tyr|1026/2574|948/1563|316/520||,T|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|13/21|c.948C>T|p.Tyr316Tyr|1008/3875|948/1563|316/520||,T|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|12/20|c.885C>T|p.Tyr295Tyr|916/1870|885/1470|295/489||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|13/21|c.948C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|18/21|c.948C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|14/21|c.948C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|15/21|c.948C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|12/21|c.948C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|17/21|c.948C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|16/21|c.948C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|turn|ENST00000412327|protein_coding|13/21|c.948C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|13/21|c.948C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|18/21|c.948C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|14/21|c.948C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|15/21|c.948C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|12/21|c.948C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|17/21|c.948C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|16/21|c.948C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|turn|ENST00000492445|protein_coding|13/21|c.948C>T||||||,T|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|15/22|n.*973C>T|||||17351|,T|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000484439|processed_transcript||n.*863C>T|||||2815|,T|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|15/22|n.*973C>T||||||,T|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript|4/12|n.288C>T|||||| 22 22042031 . G A . . ANN=A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|13/21|c.987+10G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|18/21|c.987+10G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|14/21|c.987+10G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|15/21|c.987+10G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|12/21|c.987+10G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|17/21|c.987+10G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|16/21|c.987+10G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|beta_strand|ENST00000412327|protein_coding|13/21|c.987+10G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|beta_strand|ENST00000412327|protein_coding|14/21|c.987+10G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|13/21|c.987+10G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|18/21|c.987+10G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|14/21|c.987+10G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|15/21|c.987+10G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|12/21|c.987+10G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|17/21|c.987+10G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|16/21|c.987+10G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|beta_strand|ENST00000492445|protein_coding|13/21|c.987+10G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|beta_strand|ENST00000492445|protein_coding|14/21|c.987+10G>A||||||,A|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000484439|processed_transcript||n.*863G>A|||||2864|,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|13/20|c.987+10G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|13/20|c.987+10G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|13/20|c.987+10G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|13/19|c.987+10G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|15/21|n.*1012+10G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|13/20|c.987+10G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|12/19|c.924+10G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript|4/11|n.327+10G>A|||||| 22 22042070 . G A . . ANN=A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|13/21|c.987+49G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|18/21|c.987+49G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|14/21|c.987+49G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|15/21|c.987+49G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|12/21|c.987+49G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|17/21|c.987+49G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|16/21|c.987+49G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|beta_strand|ENST00000412327|protein_coding|13/21|c.987+49G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|beta_strand|ENST00000412327|protein_coding|14/21|c.987+49G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|13/21|c.987+49G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|18/21|c.987+49G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|14/21|c.987+49G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|15/21|c.987+49G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|12/21|c.987+49G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|17/21|c.987+49G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|16/21|c.987+49G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|beta_strand|ENST00000492445|protein_coding|13/21|c.987+49G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|beta_strand|ENST00000492445|protein_coding|14/21|c.987+49G>A||||||,A|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000484439|processed_transcript||n.*863G>A|||||2903|,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|13/20|c.987+49G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|13/20|c.987+49G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|13/20|c.987+49G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|13/19|c.987+49G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|15/21|n.*1012+49G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|13/20|c.987+49G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|12/19|c.924+49G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript|4/11|n.327+49G>A|||||| 22 22042318 . C T . . ANN=T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|13/21|c.988-44C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|18/21|c.988-44C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|14/21|c.988-44C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|15/21|c.988-44C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|12/21|c.988-44C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|17/21|c.988-44C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|16/21|c.988-44C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|beta_strand|ENST00000412327|protein_coding|13/21|c.988-44C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|beta_strand|ENST00000412327|protein_coding|14/21|c.988-44C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|13/21|c.988-44C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|18/21|c.988-44C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|14/21|c.988-44C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|15/21|c.988-44C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|12/21|c.988-44C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|17/21|c.988-44C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|16/21|c.988-44C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|beta_strand|ENST00000492445|protein_coding|13/21|c.988-44C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|beta_strand|ENST00000492445|protein_coding|14/21|c.988-44C>T||||||,T|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000484439|processed_transcript||n.*863C>T|||||3151|,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|13/20|c.988-44C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|13/20|c.988-44C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|13/20|c.988-44C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|13/19|c.988-44C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|15/21|n.*1013-44C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|13/20|c.988-44C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|12/19|c.925-44C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript|4/11|n.328-44C>T|||||| 22 22042319 . G A . . ANN=A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|13/21|c.988-43G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|18/21|c.988-43G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|14/21|c.988-43G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|15/21|c.988-43G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|12/21|c.988-43G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|17/21|c.988-43G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|16/21|c.988-43G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|beta_strand|ENST00000412327|protein_coding|13/21|c.988-43G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|beta_strand|ENST00000412327|protein_coding|14/21|c.988-43G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|13/21|c.988-43G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|18/21|c.988-43G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|14/21|c.988-43G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|15/21|c.988-43G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|12/21|c.988-43G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|17/21|c.988-43G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|16/21|c.988-43G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|beta_strand|ENST00000492445|protein_coding|13/21|c.988-43G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|beta_strand|ENST00000492445|protein_coding|14/21|c.988-43G>A||||||,A|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000484439|processed_transcript||n.*863G>A|||||3152|,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|13/20|c.988-43G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|13/20|c.988-43G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|13/20|c.988-43G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|13/19|c.988-43G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|15/21|n.*1013-43G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|13/20|c.988-43G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|12/19|c.925-43G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript|4/11|n.328-43G>A|||||| 22 22042377 . C A . . ANN=A|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|14/21|c.1003C>A|p.Pro335Thr|1119/2709|1003/1584|335/527||,A|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|14/21|c.1003C>A|p.Pro335Thr|1094/4929|1003/1563|335/520||,A|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|14/21|c.1003C>A|p.Pro335Thr|1081/1841|1003/1563|335/520||,A|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|14/20|c.1003C>A|p.Pro335Thr|1081/2574|1003/1563|335/520||,A|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|14/21|c.1003C>A|p.Pro335Thr|1063/3875|1003/1563|335/520||,A|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|13/20|c.940C>A|p.Pro314Thr|971/1870|940/1470|314/489||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|13/21|c.1003C>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|18/21|c.1003C>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|14/21|c.1003C>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|15/21|c.1003C>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|12/21|c.1003C>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|17/21|c.1003C>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|16/21|c.1003C>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|13/21|c.1003C>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|18/21|c.1003C>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|14/21|c.1003C>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|15/21|c.1003C>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|12/21|c.1003C>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|17/21|c.1003C>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|16/21|c.1003C>A||||||,A|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|16/22|n.*1028C>A|||||17746|,A|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000484439|processed_transcript||n.*863C>A|||||3210|,A|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|16/22|n.*1028C>A||||||,A|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript|5/12|n.343C>A|||||| 22 22042430 . T G . . ANN=G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|13/21|c.1021+35T>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|18/21|c.1021+35T>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|14/21|c.1021+35T>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|15/21|c.1021+35T>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|12/21|c.1021+35T>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|17/21|c.1021+35T>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|16/21|c.1021+35T>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|13/21|c.1021+35T>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|18/21|c.1021+35T>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|14/21|c.1021+35T>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|15/21|c.1021+35T>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|12/21|c.1021+35T>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|17/21|c.1021+35T>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|16/21|c.1021+35T>G||||||,G|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000484439|processed_transcript||n.*863T>G|||||3263|,G|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|14/20|c.1021+35T>G||||||,G|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|14/20|c.1021+35T>G||||||,G|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|14/20|c.1021+35T>G||||||,G|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|14/19|c.1021+35T>G||||||,G|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|16/21|n.*1046+35T>G||||||,G|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|14/20|c.1021+35T>G||||||,G|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|13/19|c.958+35T>G||||||,G|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript|5/11|n.361+35T>G|||||| 22 22042440 . C T . . ANN=T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|13/21|c.1021+45C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|18/21|c.1021+45C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|14/21|c.1021+45C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|15/21|c.1021+45C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|12/21|c.1021+45C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|17/21|c.1021+45C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|16/21|c.1021+45C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|13/21|c.1021+45C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|18/21|c.1021+45C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|14/21|c.1021+45C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|15/21|c.1021+45C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|12/21|c.1021+45C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|17/21|c.1021+45C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|16/21|c.1021+45C>T||||||,T|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000484439|processed_transcript||n.*863C>T|||||3273|,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|14/20|c.1021+45C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|14/20|c.1021+45C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|14/20|c.1021+45C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|14/19|c.1021+45C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|16/21|n.*1046+45C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|14/20|c.1021+45C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|13/19|c.958+45C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript|5/11|n.361+45C>T|||||| 22 22042975 . G A . . ANN=A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|13/21|c.1022-46G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|18/21|c.1022-46G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|14/21|c.1022-46G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|15/21|c.1022-46G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|12/21|c.1022-46G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|17/21|c.1022-46G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|16/21|c.1022-46G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|13/21|c.1022-46G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|18/21|c.1022-46G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|14/21|c.1022-46G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|15/21|c.1022-46G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|12/21|c.1022-46G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|17/21|c.1022-46G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|16/21|c.1022-46G>A||||||,A|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000484439|processed_transcript||n.*863G>A|||||3808|,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|14/20|c.1022-46G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|14/20|c.1022-46G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|14/20|c.1022-46G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|14/19|c.1022-46G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|16/21|n.*1047-46G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|14/20|c.1022-46G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|13/19|c.959-46G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript|5/11|n.362-46G>A|||||| 22 22042999 . C T . . ANN=T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|13/21|c.1022-22C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|18/21|c.1022-22C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|14/21|c.1022-22C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|15/21|c.1022-22C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|12/21|c.1022-22C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|17/21|c.1022-22C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|16/21|c.1022-22C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|13/21|c.1022-22C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|18/21|c.1022-22C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|14/21|c.1022-22C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|15/21|c.1022-22C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|12/21|c.1022-22C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|17/21|c.1022-22C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|16/21|c.1022-22C>T||||||,T|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000484439|processed_transcript||n.*863C>T|||||3832|,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|14/20|c.1022-22C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|14/20|c.1022-22C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|14/20|c.1022-22C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|14/19|c.1022-22C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|16/21|n.*1047-22C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|14/20|c.1022-22C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|13/19|c.959-22C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript|5/11|n.362-22C>T|||||| 22 22048114 . G A . . ANN=A|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|16/21|c.1149G>A|p.Thr383Thr|1265/2709|1149/1584|383/527||,A|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|16/21|c.1149G>A|p.Thr383Thr|1240/4929|1149/1563|383/520||,A|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|16/21|c.1149G>A|p.Thr383Thr|1227/1841|1149/1563|383/520||,A|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|16/20|c.1149G>A|p.Thr383Thr|1227/2574|1149/1563|383/520||,A|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|16/21|c.1149G>A|p.Thr383Thr|1209/3875|1149/1563|383/520||,A|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|15/20|c.1086G>A|p.Thr362Thr|1117/1870|1086/1470|362/489||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|13/21|c.1149G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|18/21|c.1149G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|14/21|c.1149G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|15/21|c.1149G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|12/21|c.1149G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|17/21|c.1149G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|16/21|c.1149G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|beta_strand|ENST00000412327|protein_coding|15/21|c.1149G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|beta_strand|ENST00000412327|protein_coding|16/21|c.1149G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|13/21|c.1149G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|18/21|c.1149G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|14/21|c.1149G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|15/21|c.1149G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|12/21|c.1149G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|17/21|c.1149G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|16/21|c.1149G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|beta_strand|ENST00000492445|protein_coding|15/21|c.1149G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|beta_strand|ENST00000492445|protein_coding|16/21|c.1149G>A||||||,A|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|18/22|n.*1174G>A|||||23483|,A|upstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000462188|retained_intron||n.-1G>A|||||836|,A|downstream_gene_variant|MODIFIER|YPEL1|ENSG00000100027|transcript|ENST00000339468|protein_coding||c.*744C>T|||||3719|,A|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|18/22|n.*1174G>A||||||,A|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript|7/12|n.489G>A|||||| 22 22048856 . G A . . ANN=A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|13/21|c.1197-26G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|18/21|c.1197-26G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|14/21|c.1197-26G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|15/21|c.1197-26G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|12/21|c.1197-26G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|17/21|c.1197-26G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|16/21|c.1197-26G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|beta_strand|ENST00000412327|protein_coding|17/21|c.1197-26G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|beta_strand|ENST00000412327|protein_coding|16/21|c.1197-26G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|13/21|c.1197-26G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|18/21|c.1197-26G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|14/21|c.1197-26G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|15/21|c.1197-26G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|12/21|c.1197-26G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|17/21|c.1197-26G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|16/21|c.1197-26G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|beta_strand|ENST00000492445|protein_coding|17/21|c.1197-26G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|beta_strand|ENST00000492445|protein_coding|16/21|c.1197-26G>A||||||,A|upstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000462188|retained_intron||n.-1G>A|||||94|,A|downstream_gene_variant|MODIFIER|YPEL1|ENSG00000100027|transcript|ENST00000339468|protein_coding||c.*744C>T|||||2977|,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|16/20|c.1197-26G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|16/20|c.1197-26G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|16/20|c.1197-26G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|16/19|c.1197-26G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|18/21|n.*1222-26G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|16/20|c.1197-26G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|15/19|c.1134-26G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript|7/11|n.537-26G>A|||||| 22 22048857 . A G . . ANN=G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|13/21|c.1197-25A>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|18/21|c.1197-25A>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|14/21|c.1197-25A>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|15/21|c.1197-25A>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|12/21|c.1197-25A>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|17/21|c.1197-25A>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|16/21|c.1197-25A>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|beta_strand|ENST00000412327|protein_coding|17/21|c.1197-25A>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|beta_strand|ENST00000412327|protein_coding|16/21|c.1197-25A>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|13/21|c.1197-25A>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|18/21|c.1197-25A>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|14/21|c.1197-25A>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|15/21|c.1197-25A>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|12/21|c.1197-25A>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|17/21|c.1197-25A>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|16/21|c.1197-25A>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|beta_strand|ENST00000492445|protein_coding|17/21|c.1197-25A>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|beta_strand|ENST00000492445|protein_coding|16/21|c.1197-25A>G||||||,G|upstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000462188|retained_intron||n.-1A>G|||||93|,G|downstream_gene_variant|MODIFIER|YPEL1|ENSG00000100027|transcript|ENST00000339468|protein_coding||c.*744T>C|||||2976|,G|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|16/20|c.1197-25A>G||||||,G|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|16/20|c.1197-25A>G||||||,G|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|16/20|c.1197-25A>G||||||,G|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|16/19|c.1197-25A>G||||||,G|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|18/21|n.*1222-25A>G||||||,G|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|16/20|c.1197-25A>G||||||,G|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|15/19|c.1134-25A>G||||||,G|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript|7/11|n.537-25A>G|||||| 22 22048862 . C T . . ANN=T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|13/21|c.1197-20C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|18/21|c.1197-20C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|14/21|c.1197-20C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|15/21|c.1197-20C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|12/21|c.1197-20C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|17/21|c.1197-20C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|16/21|c.1197-20C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|beta_strand|ENST00000412327|protein_coding|17/21|c.1197-20C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|beta_strand|ENST00000412327|protein_coding|16/21|c.1197-20C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|13/21|c.1197-20C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|18/21|c.1197-20C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|14/21|c.1197-20C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|15/21|c.1197-20C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|12/21|c.1197-20C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|17/21|c.1197-20C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|16/21|c.1197-20C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|beta_strand|ENST00000492445|protein_coding|17/21|c.1197-20C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|beta_strand|ENST00000492445|protein_coding|16/21|c.1197-20C>T||||||,T|upstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000462188|retained_intron||n.-1C>T|||||88|,T|downstream_gene_variant|MODIFIER|YPEL1|ENSG00000100027|transcript|ENST00000339468|protein_coding||c.*744G>A|||||2971|,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|16/20|c.1197-20C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|16/20|c.1197-20C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|16/20|c.1197-20C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|16/19|c.1197-20C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|18/21|n.*1222-20C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|16/20|c.1197-20C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|15/19|c.1134-20C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript|7/11|n.537-20C>T|||||| 22 22048870 . TC T . . ANN=|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|13/21|c.1197-11delC||||||,|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|18/21|c.1197-11delC||||||,|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|14/21|c.1197-11delC||||||,|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|15/21|c.1197-11delC||||||,|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|12/21|c.1197-11delC||||||,|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|17/21|c.1197-11delC||||||,|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|16/21|c.1197-11delC||||||,|sequence_feature|LOW|PPIL2|ENSG00000100023|beta_strand|ENST00000412327|protein_coding|17/21|c.1197-11delC||||||,|sequence_feature|LOW|PPIL2|ENSG00000100023|beta_strand|ENST00000412327|protein_coding|16/21|c.1197-11delC||||||,|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|13/21|c.1197-11delC||||||,|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|18/21|c.1197-11delC||||||,|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|14/21|c.1197-11delC||||||,|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|15/21|c.1197-11delC||||||,|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|12/21|c.1197-11delC||||||,|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|17/21|c.1197-11delC||||||,|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|16/21|c.1197-11delC||||||,|sequence_feature|LOW|PPIL2|ENSG00000100023|beta_strand|ENST00000492445|protein_coding|17/21|c.1197-11delC||||||,|sequence_feature|LOW|PPIL2|ENSG00000100023|beta_strand|ENST00000492445|protein_coding|16/21|c.1197-11delC||||||,|upstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000462188|retained_intron||n.-1delC|||||79|,|downstream_gene_variant|MODIFIER|YPEL1|ENSG00000100027|transcript|ENST00000339468|protein_coding||c.*744delG|||||2962|,|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|16/20|c.1197-9delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|16/20|c.1197-9delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|16/20|c.1197-9delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|16/19|c.1197-9delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|18/21|n.*1222-9delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|16/20|c.1197-9delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|15/19|c.1134-9delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript|7/11|n.537-9delC||||||INFO_REALIGN_3_PRIME 22 22048900 . C T . . ANN=T|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|17/21|c.1215C>T|p.Asp405Asp|1331/2709|1215/1584|405/527||,T|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|17/21|c.1215C>T|p.Asp405Asp|1306/4929|1215/1563|405/520||,T|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|17/21|c.1215C>T|p.Asp405Asp|1293/1841|1215/1563|405/520||,T|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|17/20|c.1215C>T|p.Asp405Asp|1293/2574|1215/1563|405/520||,T|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|17/21|c.1215C>T|p.Asp405Asp|1275/3875|1215/1563|405/520||,T|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|16/20|c.1152C>T|p.Asp384Asp|1183/1870|1152/1470|384/489||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|13/21|c.1215C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|18/21|c.1215C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|14/21|c.1215C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|15/21|c.1215C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|12/21|c.1215C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|17/21|c.1215C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|16/21|c.1215C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|helix|ENST00000412327|protein_coding|17/21|c.1215C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|13/21|c.1215C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|18/21|c.1215C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|14/21|c.1215C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|15/21|c.1215C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|12/21|c.1215C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|17/21|c.1215C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|16/21|c.1215C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|helix|ENST00000492445|protein_coding|17/21|c.1215C>T||||||,T|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|19/22|n.*1240C>T|||||24269|,T|upstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000462188|retained_intron||n.-1C>T|||||50|,T|downstream_gene_variant|MODIFIER|YPEL1|ENSG00000100027|transcript|ENST00000339468|protein_coding||c.*744G>A|||||2933|,T|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|19/22|n.*1240C>T||||||,T|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript|8/12|n.555C>T|||||| 22 22048970 . G T . . ANN=T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|13/21|c.1269+16G>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|18/21|c.1269+16G>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|14/21|c.1269+16G>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|15/21|c.1269+16G>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|12/21|c.1269+16G>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|17/21|c.1269+16G>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|16/21|c.1269+16G>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|beta_strand|ENST00000412327|protein_coding|18/21|c.1269+16G>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|beta_strand|ENST00000412327|protein_coding|17/21|c.1269+16G>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|13/21|c.1269+16G>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|18/21|c.1269+16G>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|14/21|c.1269+16G>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|15/21|c.1269+16G>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|12/21|c.1269+16G>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|17/21|c.1269+16G>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|16/21|c.1269+16G>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|beta_strand|ENST00000492445|protein_coding|18/21|c.1269+16G>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|beta_strand|ENST00000492445|protein_coding|17/21|c.1269+16G>T||||||,T|downstream_gene_variant|MODIFIER|YPEL1|ENSG00000100027|transcript|ENST00000339468|protein_coding||c.*744C>A|||||2863|,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|17/20|c.1269+16G>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|17/20|c.1269+16G>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|17/20|c.1269+16G>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|17/19|c.1269+16G>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|19/21|n.*1294+16G>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|17/20|c.1269+16G>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|16/19|c.1206+16G>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript|8/11|n.609+16G>T||||||,T|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000462188|retained_intron|1/3|n.21G>T|||||| 22 22049017 . C T . . ANN=T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|13/21|c.1270-27C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|18/21|c.1270-27C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|14/21|c.1270-27C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|15/21|c.1270-27C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|12/21|c.1270-27C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|17/21|c.1270-27C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|16/21|c.1270-27C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|beta_strand|ENST00000412327|protein_coding|18/21|c.1270-27C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|beta_strand|ENST00000412327|protein_coding|17/21|c.1270-27C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|13/21|c.1270-27C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|18/21|c.1270-27C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|14/21|c.1270-27C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|15/21|c.1270-27C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|12/21|c.1270-27C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|17/21|c.1270-27C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|16/21|c.1270-27C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|beta_strand|ENST00000492445|protein_coding|18/21|c.1270-27C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|beta_strand|ENST00000492445|protein_coding|17/21|c.1270-27C>T||||||,T|downstream_gene_variant|MODIFIER|YPEL1|ENSG00000100027|transcript|ENST00000339468|protein_coding||c.*744G>A|||||2816|,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|17/20|c.1270-27C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|17/20|c.1270-27C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|17/20|c.1270-27C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|17/19|c.1270-27C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|19/21|n.*1295-27C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|17/20|c.1270-27C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|16/19|c.1207-27C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript|8/11|n.610-27C>T||||||,T|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000462188|retained_intron|1/3|n.68C>T|||||| 22 22049076 . C T . . ANN=T|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|18/21|c.1302C>T|p.Phe434Phe|1418/2709|1302/1584|434/527||,T|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|18/21|c.1302C>T|p.Phe434Phe|1393/4929|1302/1563|434/520||,T|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|18/21|c.1302C>T|p.Phe434Phe|1380/1841|1302/1563|434/520||,T|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|18/20|c.1302C>T|p.Phe434Phe|1380/2574|1302/1563|434/520||,T|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|18/21|c.1302C>T|p.Phe434Phe|1362/3875|1302/1563|434/520||,T|synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|17/20|c.1239C>T|p.Phe413Phe|1270/1870|1239/1470|413/489||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|beta_strand|ENST00000412327|protein_coding|18/21|c.1302C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|beta_strand|ENST00000492445|protein_coding|18/21|c.1302C>T||||||,T|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|20/22|n.*1327C>T|||||24445|,T|downstream_gene_variant|MODIFIER|YPEL1|ENSG00000100027|transcript|ENST00000339468|protein_coding||c.*744G>A|||||2757|,T|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|20/22|n.*1327C>T||||||,T|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript|9/12|n.642C>T||||||,T|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000462188|retained_intron|1/3|n.127C>T|||||| 22 22049099 . A G . . ANN=G|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|18/21|c.1325A>G|p.Asp442Gly|1441/2709|1325/1584|442/527||,G|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|18/21|c.1325A>G|p.Asp442Gly|1416/4929|1325/1563|442/520||,G|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|18/21|c.1325A>G|p.Asp442Gly|1403/1841|1325/1563|442/520||,G|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|18/20|c.1325A>G|p.Asp442Gly|1403/2574|1325/1563|442/520||,G|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|18/21|c.1325A>G|p.Asp442Gly|1385/3875|1325/1563|442/520||,G|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|17/20|c.1262A>G|p.Asp421Gly|1293/1870|1262/1470|421/489||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|helix|ENST00000412327|protein_coding|18/21|c.1325A>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|helix|ENST00000412327|protein_coding|19/21|c.1325A>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|helix|ENST00000492445|protein_coding|18/21|c.1325A>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|helix|ENST00000492445|protein_coding|19/21|c.1325A>G||||||,G|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|20/22|n.*1350A>G|||||24468|,G|downstream_gene_variant|MODIFIER|YPEL1|ENSG00000100027|transcript|ENST00000339468|protein_coding||c.*744T>C|||||2734|,G|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|20/22|n.*1350A>G||||||,G|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript|9/12|n.665A>G||||||,G|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000462188|retained_intron|1/3|n.150A>G|||||| 22 22049119 . G A . . ANN=A|sequence_feature|LOW|PPIL2|ENSG00000100023|helix|ENST00000412327|protein_coding|18/21|c.1332+13G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|helix|ENST00000412327|protein_coding|19/21|c.1332+13G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|helix|ENST00000492445|protein_coding|18/21|c.1332+13G>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|helix|ENST00000492445|protein_coding|19/21|c.1332+13G>A||||||,A|downstream_gene_variant|MODIFIER|YPEL1|ENSG00000100027|transcript|ENST00000339468|protein_coding||c.*744C>T|||||2714|,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|18/20|c.1332+13G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|18/20|c.1332+13G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|18/20|c.1332+13G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|18/19|c.1332+13G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|20/21|n.*1357+13G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|18/20|c.1332+13G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|17/19|c.1269+13G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript|9/11|n.672+13G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000462188|retained_intron|1/2|n.157+13G>A|||||| 22 22049127 . C T . . ANN=T|sequence_feature|LOW|PPIL2|ENSG00000100023|helix|ENST00000412327|protein_coding|18/21|c.1332+21C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|helix|ENST00000412327|protein_coding|19/21|c.1332+21C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|helix|ENST00000492445|protein_coding|18/21|c.1332+21C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|helix|ENST00000492445|protein_coding|19/21|c.1332+21C>T||||||,T|downstream_gene_variant|MODIFIER|YPEL1|ENSG00000100027|transcript|ENST00000339468|protein_coding||c.*744G>A|||||2706|,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|18/20|c.1332+21C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|18/20|c.1332+21C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|18/20|c.1332+21C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|18/19|c.1332+21C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|20/21|n.*1357+21C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|18/20|c.1332+21C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|17/19|c.1269+21C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript|9/11|n.672+21C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000462188|retained_intron|1/2|n.157+21C>T|||||| 22 22049186 . C T . . ANN=T|sequence_feature|LOW|PPIL2|ENSG00000100023|helix|ENST00000412327|protein_coding|18/21|c.1333-40C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|helix|ENST00000412327|protein_coding|19/21|c.1333-40C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|helix|ENST00000492445|protein_coding|18/21|c.1333-40C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|helix|ENST00000492445|protein_coding|19/21|c.1333-40C>T||||||,T|downstream_gene_variant|MODIFIER|YPEL1|ENSG00000100027|transcript|ENST00000339468|protein_coding||c.*744G>A|||||2647|,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|18/20|c.1333-40C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|18/20|c.1333-40C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|18/20|c.1333-40C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|18/19|c.1333-40C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|20/21|n.*1358-40C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|18/20|c.1333-40C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|17/19|c.1270-40C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript|9/11|n.673-40C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000462188|retained_intron|1/2|n.158-40C>T|||||| 22 22049230 . C T . . ANN=T|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|19/21|c.1337C>T|p.Ala446Val|1453/2709|1337/1584|446/527||,T|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|19/21|c.1337C>T|p.Ala446Val|1428/4929|1337/1563|446/520||,T|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|19/21|c.1337C>T|p.Ala446Val|1415/1841|1337/1563|446/520||,T|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|19/20|c.1337C>T|p.Ala446Val|1415/2574|1337/1563|446/520||,T|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|19/21|c.1337C>T|p.Ala446Val|1397/3875|1337/1563|446/520||,T|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|18/20|c.1274C>T|p.Ala425Val|1305/1870|1274/1470|425/489||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|helix|ENST00000412327|protein_coding|18/21|c.1337C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|helix|ENST00000412327|protein_coding|19/21|c.1337C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|helix|ENST00000492445|protein_coding|18/21|c.1337C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|helix|ENST00000492445|protein_coding|19/21|c.1337C>T||||||,T|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|21/22|n.*1362C>T|||||24599|,T|downstream_gene_variant|MODIFIER|YPEL1|ENSG00000100027|transcript|ENST00000339468|protein_coding||c.*744G>A|||||2603|,T|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|21/22|n.*1362C>T||||||,T|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript|10/12|n.677C>T||||||,T|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000462188|retained_intron|2/3|n.162C>T|||||| 22 22049263 . C T . . ANN=T|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|19/21|c.1370C>T|p.Pro457Leu|1486/2709|1370/1584|457/527||,T|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|19/21|c.1370C>T|p.Pro457Leu|1461/4929|1370/1563|457/520||,T|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|19/21|c.1370C>T|p.Pro457Leu|1448/1841|1370/1563|457/520||,T|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|19/20|c.1370C>T|p.Pro457Leu|1448/2574|1370/1563|457/520||,T|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|19/21|c.1370C>T|p.Pro457Leu|1430/3875|1370/1563|457/520||,T|splice_region_variant&intron_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|18/19|c.1299+8C>T||||||,T|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|21/22|n.*1395C>T|||||24632|,T|downstream_gene_variant|MODIFIER|YPEL1|ENSG00000100027|transcript|ENST00000339468|protein_coding||c.*744G>A|||||2570|,T|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|21/22|n.*1395C>T||||||,T|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript|10/12|n.710C>T||||||,T|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000462188|retained_intron|2/3|n.195C>T|||||| 22 22049359 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|19/21|c.1466C>T|p.Thr489Ile|1582/2709|1466/1584|489/527||,T|missense_variant&splice_region_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|19/21|c.1466C>T|p.Thr489Met|1557/4929|1466/1563|489/520||,T|missense_variant&splice_region_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|19/21|c.1466C>T|p.Thr489Met|1544/1841|1466/1563|489/520||,T|missense_variant&splice_region_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|19/20|c.1466C>T|p.Thr489Met|1544/2574|1466/1563|489/520||,T|missense_variant&splice_region_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|19/21|c.1466C>T|p.Thr489Met|1526/3875|1466/1563|489/520||,T|splice_region_variant&non_coding_exon_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|21/22|n.*1491C>T||||||,T|splice_region_variant&non_coding_exon_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript|10/12|n.806C>T||||||,T|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|21/22|n.*1491C>T|||||24728|,T|downstream_gene_variant|MODIFIER|YPEL1|ENSG00000100027|transcript|ENST00000339468|protein_coding||c.*744G>A|||||2474|,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|18/19|c.1299+104C>T||||||,T|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000462188|retained_intron|2/3|n.291C>T|||||| 22 22049369 . G T . . ANN=T|downstream_gene_variant|MODIFIER|YPEL1|ENSG00000100027|transcript|ENST00000339468|protein_coding||c.*744C>A|||||2464|,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|19/20|c.1466+10G>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|19/20|c.1466+10G>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|19/20|c.1466+10G>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|19/19|c.1466+10G>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|21/21|n.*1491+10G>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|19/20|c.1466+10G>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|18/19|c.1299+114G>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript|10/11|n.806+10G>T||||||,T|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000462188|retained_intron|2/3|n.301G>T|||||| 22 22049397 . T A . . ANN=A|downstream_gene_variant|MODIFIER|YPEL1|ENSG00000100027|transcript|ENST00000339468|protein_coding||c.*744A>T|||||2436|,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|19/20|c.1466+38T>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|19/20|c.1466+38T>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|19/20|c.1466+38T>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|19/19|c.1466+38T>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|21/21|n.*1491+38T>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|19/20|c.1466+38T>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|18/19|c.1299+142T>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript|10/11|n.806+38T>A||||||,A|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000462188|retained_intron|2/3|n.329T>A|||||| 22 22049409 . C T . . ANN=T|downstream_gene_variant|MODIFIER|YPEL1|ENSG00000100027|transcript|ENST00000339468|protein_coding||c.*744G>A|||||2424|,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|19/20|c.1466+50C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|19/20|c.1466+50C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|19/20|c.1466+50C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|19/19|c.1466+50C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|21/21|n.*1491+50C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|19/20|c.1466+50C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|18/19|c.1299+154C>T||||||,T|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript|10/11|n.806+50C>T||||||,T|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000462188|retained_intron|2/3|n.341C>T|||||| 22 22049783 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|19/20|c.1400C>T|p.Ala467Val|1431/1870|1400/1470|467/489||,T|splice_region_variant&synonymous_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|20/21|c.1563C>T|p.Ser521Ser|1679/2709|1563/1584|521/527||,T|splice_region_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|20/21|c.*4C>T||||||,T|splice_region_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|20/21|c.*4C>T||||||,T|splice_region_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|20/21|c.*4C>T||||||,T|splice_region_variant&non_coding_exon_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript|11/12|n.907C>T||||||,T|splice_region_variant&non_coding_exon_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000462188|retained_intron|2/3|n.715C>T||||||,T|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|20/21|c.*4C>T|||||4|,T|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|20/21|c.*4C>T|||||4|,T|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|20/20|c.*4C>T|||||4|,T|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|22/22|n.*1592C>T|||||25152|,T|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|20/21|c.*4C>T|||||4|,T|downstream_gene_variant|MODIFIER|YPEL1|ENSG00000100027|transcript|ENST00000339468|protein_coding||c.*744G>A|||||2050|,T|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|22/22|n.*1592C>T|||||| 22 22051133 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|21/21|c.*104G>A|||||1354|,A|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|22/22|n.*2942G>A|||||26502|,A|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|21/21|c.*820G>A|||||1354|,A|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|20/20|c.*30G>A|||||30|,A|downstream_gene_variant|MODIFIER|YPEL1|ENSG00000100027|transcript|ENST00000339468|protein_coding||c.*744C>T|||||700|,A|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding||c.*1641G>A|||||784|,A|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding||c.*1641G>A|||||421|,A|downstream_gene_variant|MODIFIER|YPEL1|ENSG00000100027|transcript|ENST00000477675|retained_intron||n.*1319C>T|||||4021|,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|20/20|c.1566-41G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript|11/11|n.910-41G>A||||||,A|intron_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000462188|retained_intron|2/2|n.718-41G>A||||||,A|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|22/22|n.*2942G>A|||||| 22 22051197 . A ATGTC . . ANN=TCTG|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|21/21|c.*8_*11dupTCTG|||||12|INFO_REALIGN_3_PRIME,TCTG|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|21/21|c.*171_*174dupTCTG|||||1425|INFO_REALIGN_3_PRIME,TCTG|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|22/22|n.*3009_*3012dupTCTG|||||26573|INFO_REALIGN_3_PRIME,TCTG|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|21/21|c.*887_*890dupTCTG|||||1425|INFO_REALIGN_3_PRIME,TCTG|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|20/20|c.*97_*100dupTCTG|||||101|INFO_REALIGN_3_PRIME,TGTC|downstream_gene_variant|MODIFIER|YPEL1|ENSG00000100027|transcript|ENST00000339468|protein_coding||c.*744_*744dupGACA|||||635|,TGTC|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding||c.*1641_*1641insTGTC|||||849|,TGTC|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding||c.*1641_*1641insTGTC|||||486|,TGTC|downstream_gene_variant|MODIFIER|YPEL1|ENSG00000100027|transcript|ENST00000477675|retained_intron||n.*1319_*1319dupGACA|||||3956|,TCTG|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|22/22|n.*3009_*3012dupTCTG||||||INFO_REALIGN_3_PRIME,TCTG|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript|12/12|n.936_939dupTCTG||||||INFO_REALIGN_3_PRIME,TCTG|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000462188|retained_intron|3/3|n.744_747dupTCTG||||||INFO_REALIGN_3_PRIME 22 22051204 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|21/21|c.*12C>T|||||12|,T|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|21/21|c.*175C>T|||||1425|,T|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|22/22|n.*3013C>T|||||26573|,T|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|21/21|c.*891C>T|||||1425|,T|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|20/20|c.*101C>T|||||101|,T|downstream_gene_variant|MODIFIER|YPEL1|ENSG00000100027|transcript|ENST00000339468|protein_coding||c.*744G>A|||||629|,T|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding||c.*1641C>T|||||855|,T|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding||c.*1641C>T|||||492|,T|downstream_gene_variant|MODIFIER|YPEL1|ENSG00000100027|transcript|ENST00000477675|retained_intron||n.*1319G>A|||||3950|,T|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|22/22|n.*3013C>T||||||,T|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript|12/12|n.940C>T||||||,T|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000462188|retained_intron|3/3|n.748C>T|||||| 22 22051210 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|21/21|c.*18G>A|||||18|,A|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|21/21|c.*181G>A|||||1431|,A|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|22/22|n.*3019G>A|||||26579|,A|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|21/21|c.*897G>A|||||1431|,A|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|20/20|c.*107G>A|||||107|,A|downstream_gene_variant|MODIFIER|YPEL1|ENSG00000100027|transcript|ENST00000339468|protein_coding||c.*744C>T|||||623|,A|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding||c.*1641G>A|||||861|,A|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding||c.*1641G>A|||||498|,A|downstream_gene_variant|MODIFIER|YPEL1|ENSG00000100027|transcript|ENST00000477675|retained_intron||n.*1319C>T|||||3944|,A|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|22/22|n.*3019G>A||||||,A|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript|12/12|n.946G>A||||||,A|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000462188|retained_intron|3/3|n.754G>A|||||| 22 22055394 . A G . . ANN=G|3_prime_UTR_variant|MODIFIER|YPEL1|ENSG00000100027|transcript|ENST00000339468|protein_coding|5/5|c.*24T>C|||||24|,G|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding||c.*1700A>G|||||3193|,G|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding||c.*1654A>G|||||1090|,G|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding||c.*1641A>G|||||4682|,G|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay||n.*203A>G|||||3193|,G|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding||c.*1623A>G|||||2829|,G|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding||c.*1501A>G|||||3922|,G|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript||n.*1926A>G|||||3204|,G|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000462188|retained_intron||n.*1735A>G|||||3203|,G|downstream_gene_variant|MODIFIER|YPEL1|ENSG00000100027|transcript|ENST00000403503|protein_coding||c.*440T>C|||||2977|,G|non_coding_exon_variant|MODIFIER|YPEL1|ENSG00000100027|transcript|ENST00000477675|retained_intron|5/5|n.1079T>C|||||| 22 22055412 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|YPEL1|ENSG00000100027|transcript|ENST00000339468|protein_coding|5/5|c.*6G>A|||||6|,T|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding||c.*1700C>T|||||3211|,T|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding||c.*1654C>T|||||1108|,T|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding||c.*1641C>T|||||4700|,T|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay||n.*203C>T|||||3211|,T|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding||c.*1623C>T|||||2847|,T|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding||c.*1501C>T|||||3940|,T|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript||n.*1926C>T|||||3222|,T|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000462188|retained_intron||n.*1735C>T|||||3221|,T|downstream_gene_variant|MODIFIER|YPEL1|ENSG00000100027|transcript|ENST00000403503|protein_coding||c.*440G>A|||||2959|,T|non_coding_exon_variant|MODIFIER|YPEL1|ENSG00000100027|transcript|ENST00000477675|retained_intron|5/5|n.1061G>A|||||| 22 22055413 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|YPEL1|ENSG00000100027|transcript|ENST00000339468|protein_coding|5/5|c.*5C>T|||||5|,A|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding||c.*1700G>A|||||3212|,A|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding||c.*1654G>A|||||1109|,A|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding||c.*1641G>A|||||4701|,A|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay||n.*203G>A|||||3212|,A|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding||c.*1623G>A|||||2848|,A|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding||c.*1501G>A|||||3941|,A|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript||n.*1926G>A|||||3223|,A|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000462188|retained_intron||n.*1735G>A|||||3222|,A|downstream_gene_variant|MODIFIER|YPEL1|ENSG00000100027|transcript|ENST00000403503|protein_coding||c.*440C>T|||||2958|,A|non_coding_exon_variant|MODIFIER|YPEL1|ENSG00000100027|transcript|ENST00000477675|retained_intron|5/5|n.1060C>T|||||| 22 22055539 . A G . . ANN=G|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding||c.*1700A>G|||||3338|,G|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding||c.*1654A>G|||||1235|,G|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding||c.*1641A>G|||||4827|,G|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay||n.*203A>G|||||3338|,G|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding||c.*1623A>G|||||2974|,G|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding||c.*1501A>G|||||4067|,G|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript||n.*1926A>G|||||3349|,G|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000462188|retained_intron||n.*1735A>G|||||3348|,G|downstream_gene_variant|MODIFIER|YPEL1|ENSG00000100027|transcript|ENST00000403503|protein_coding||c.*440T>C|||||2832|,G|intron_variant|MODIFIER|YPEL1|ENSG00000100027|transcript|ENST00000339468|protein_coding|4/4|c.271-32T>C||||||,G|intron_variant|MODIFIER|YPEL1|ENSG00000100027|transcript|ENST00000477675|retained_intron|4/4|n.966-32T>C|||||| 22 22057689 . C T . . ANN=T|synonymous_variant|LOW|YPEL1|ENSG00000100027|transcript|ENST00000339468|protein_coding|4/5|c.240G>A|p.Glu80Glu|624/4329|240/360|80/119||,T|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding||c.*1654C>T|||||3385|,T|downstream_gene_variant|MODIFIER|YPEL1|ENSG00000100027|transcript|ENST00000403503|protein_coding||c.*440G>A|||||682|,T|non_coding_exon_variant|MODIFIER|YPEL1|ENSG00000100027|transcript|ENST00000477675|retained_intron|4/5|n.935G>A|||||| 22 22057804 . G GCCCGC . . ANN=CCCGC|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding||c.*1654_*1654insCCCGC|||||3501|,CCCGC|downstream_gene_variant|MODIFIER|YPEL1|ENSG00000100027|transcript|ENST00000403503|protein_coding||c.*440_*440dupGCGGG|||||566|,CCCGC|intron_variant|MODIFIER|YPEL1|ENSG00000100027|transcript|ENST00000339468|protein_coding|3/4|c.162-42_162-38dupGCGGG||||||,CCCGC|intron_variant|MODIFIER|YPEL1|ENSG00000100027|transcript|ENST00000477675|retained_intron|3/4|n.857-42_857-38dupGCGGG|||||| 22 22058098 . G A . . ANN=A|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding||c.*1654G>A|||||3794|,A|downstream_gene_variant|MODIFIER|YPEL1|ENSG00000100027|transcript|ENST00000403503|protein_coding||c.*440C>T|||||273|,A|intron_variant|MODIFIER|YPEL1|ENSG00000100027|transcript|ENST00000339468|protein_coding|3/4|c.161+30C>T||||||,A|intron_variant|MODIFIER|YPEL1|ENSG00000100027|transcript|ENST00000477675|retained_intron|3/4|n.856+30C>T|||||| 22 22123573 . A G . . ANN=G|synonymous_variant|LOW|MAPK1|ENSG00000100030|transcript|ENST00000215832|protein_coding|8/9|c.1003T>C|p.Leu335Leu|1192/11022|1003/1083|335/360||,G|synonymous_variant|LOW|MAPK1|ENSG00000100030|transcript|ENST00000398822|protein_coding|8/8|c.1003T>C|p.Leu335Leu|1243/1487|1003/1083|335/360||,G|synonymous_variant|LOW|MAPK1|ENSG00000100030|transcript|ENST00000544786|protein_coding|7/7|c.871T>C|p.Leu291Leu|871/951|871/951|291/316||,G|sequence_feature|LOW|MAPK1|ENSG00000100030|turn|ENST00000398822|protein_coding|8/8|c.1003T>C||||||,G|sequence_feature|LOW|MAPK1|ENSG00000100030|turn|ENST00000544786|protein_coding|7/7|c.871T>C||||||,G|non_coding_exon_variant|MODIFIER|MAPK1|ENSG00000100030|transcript|ENST00000491588|processed_transcript|1/2|n.145T>C|||||| 22 22123601 . G A . . ANN=A|synonymous_variant|LOW|MAPK1|ENSG00000100030|transcript|ENST00000215832|protein_coding|8/9|c.975C>T|p.Ala325Ala|1164/11022|975/1083|325/360||,A|synonymous_variant|LOW|MAPK1|ENSG00000100030|transcript|ENST00000398822|protein_coding|8/8|c.975C>T|p.Ala325Ala|1215/1487|975/1083|325/360||,A|synonymous_variant|LOW|MAPK1|ENSG00000100030|transcript|ENST00000544786|protein_coding|7/7|c.843C>T|p.Ala281Ala|843/951|843/951|281/316||,A|non_coding_exon_variant|MODIFIER|MAPK1|ENSG00000100030|transcript|ENST00000491588|processed_transcript|1/2|n.117C>T|||||| 22 22123650 . T C . . ANN=C|intron_variant|MODIFIER|MAPK1|ENSG00000100030|transcript|ENST00000215832|protein_coding|7/8|c.967-41A>G||||||,C|intron_variant|MODIFIER|MAPK1|ENSG00000100030|transcript|ENST00000398822|protein_coding|7/7|c.967-41A>G||||||,C|intron_variant|MODIFIER|MAPK1|ENSG00000100030|transcript|ENST00000544786|protein_coding|6/6|c.835-41A>G||||||,C|non_coding_exon_variant|MODIFIER|MAPK1|ENSG00000100030|transcript|ENST00000491588|processed_transcript|1/2|n.68A>G|||||| 22 22127165 . G A . . ANN=A|synonymous_variant|LOW|MAPK1|ENSG00000100030|transcript|ENST00000215832|protein_coding|7/9|c.963C>T|p.Asp321Asp|1152/11022|963/1083|321/360||,A|synonymous_variant|LOW|MAPK1|ENSG00000100030|transcript|ENST00000398822|protein_coding|7/8|c.963C>T|p.Asp321Asp|1203/1487|963/1083|321/360||,A|synonymous_variant|LOW|MAPK1|ENSG00000100030|transcript|ENST00000544786|protein_coding|6/7|c.831C>T|p.Asp277Asp|831/951|831/951|277/316||,A|sequence_feature|LOW|MAPK1|ENSG00000100030|short_sequence_motif:Cytoplasmic_retention_motif|ENST00000398822|protein_coding|7/8|c.963C>T||||||,A|sequence_feature|LOW|MAPK1|ENSG00000100030|helix|ENST00000398822|protein_coding|7/8|c.963C>T||||||,A|sequence_feature|LOW|MAPK1|ENSG00000100030|short_sequence_motif:Cytoplasmic_retention_motif|ENST00000544786|protein_coding|6/7|c.831C>T||||||,A|sequence_feature|LOW|MAPK1|ENSG00000100030|helix|ENST00000544786|protein_coding|6/7|c.831C>T||||||,A|upstream_gene_variant|MODIFIER|MAPK1|ENSG00000100030|transcript|ENST00000491588|processed_transcript||n.-1C>T|||||3448| 22 22127311 . A C . . ANN=C|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|3/8|c.857-40T>G||||||,C|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|1/8|c.857-40T>G||||||,C|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|2/8|c.857-40T>G||||||,C|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|6/8|c.857-40T>G||||||,C|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|4/8|c.857-40T>G||||||,C|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|7/8|c.857-40T>G||||||,C|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|5/8|c.857-40T>G||||||,C|sequence_feature|LOW|MAPK1|ENSG00000100030|helix|ENST00000398822|protein_coding|6/8|c.857-40T>G||||||,C|sequence_feature|LOW|MAPK1|ENSG00000100030|helix|ENST00000398822|protein_coding|7/8|c.857-40T>G||||||,C|upstream_gene_variant|MODIFIER|MAPK1|ENSG00000100030|transcript|ENST00000491588|processed_transcript||n.-1T>G|||||3594|,C|intron_variant|MODIFIER|MAPK1|ENSG00000100030|transcript|ENST00000215832|protein_coding|6/8|c.857-40T>G||||||,C|intron_variant|MODIFIER|MAPK1|ENSG00000100030|transcript|ENST00000398822|protein_coding|6/7|c.857-40T>G||||||,C|intron_variant|MODIFIER|MAPK1|ENSG00000100030|transcript|ENST00000544786|protein_coding|5/6|c.725-40T>G|||||| 22 22127317 . A G . . ANN=G|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|3/8|c.857-46T>C||||||,G|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|1/8|c.857-46T>C||||||,G|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|2/8|c.857-46T>C||||||,G|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|6/8|c.857-46T>C||||||,G|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|4/8|c.857-46T>C||||||,G|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|7/8|c.857-46T>C||||||,G|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|5/8|c.857-46T>C||||||,G|sequence_feature|LOW|MAPK1|ENSG00000100030|helix|ENST00000398822|protein_coding|6/8|c.857-46T>C||||||,G|sequence_feature|LOW|MAPK1|ENSG00000100030|helix|ENST00000398822|protein_coding|7/8|c.857-46T>C||||||,G|upstream_gene_variant|MODIFIER|MAPK1|ENSG00000100030|transcript|ENST00000491588|processed_transcript||n.-1T>C|||||3600|,G|intron_variant|MODIFIER|MAPK1|ENSG00000100030|transcript|ENST00000215832|protein_coding|6/8|c.857-46T>C||||||,G|intron_variant|MODIFIER|MAPK1|ENSG00000100030|transcript|ENST00000398822|protein_coding|6/7|c.857-46T>C||||||,G|intron_variant|MODIFIER|MAPK1|ENSG00000100030|transcript|ENST00000544786|protein_coding|5/6|c.725-46T>C|||||| 22 22142501 . C T . . ANN=T|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|3/8|c.856+45G>A||||||,T|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|1/8|c.856+45G>A||||||,T|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|2/8|c.856+45G>A||||||,T|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|6/8|c.856+45G>A||||||,T|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|4/8|c.856+45G>A||||||,T|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|7/8|c.856+45G>A||||||,T|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|5/8|c.856+45G>A||||||,T|sequence_feature|LOW|MAPK1|ENSG00000100030|helix|ENST00000398822|protein_coding|6/8|c.856+45G>A||||||,T|sequence_feature|LOW|MAPK1|ENSG00000100030|helix|ENST00000398822|protein_coding|7/8|c.856+45G>A||||||,T|upstream_gene_variant|MODIFIER|RNA5SP493|ENSG00000200985|transcript|ENST00000364115|rRNA||n.-1C>T|||||4222|,T|intron_variant|MODIFIER|MAPK1|ENSG00000100030|transcript|ENST00000215832|protein_coding|6/8|c.856+45G>A||||||,T|intron_variant|MODIFIER|MAPK1|ENSG00000100030|transcript|ENST00000398822|protein_coding|6/7|c.856+45G>A||||||,T|intron_variant|MODIFIER|MAPK1|ENSG00000100030|transcript|ENST00000544786|protein_coding|5/6|c.724+482G>A|||||| 22 22142664 . G C . . ANN=C|sequence_feature|MODERATE|MAPK1|ENSG00000100030|amino_acid_modification:Phosphoserine|ENST00000398822|protein_coding|6/8|c.738C>G||||||,C|synonymous_variant|LOW|MAPK1|ENSG00000100030|transcript|ENST00000215832|protein_coding|6/9|c.738C>G|p.Ser246Ser|927/11022|738/1083|246/360||,C|synonymous_variant|LOW|MAPK1|ENSG00000100030|transcript|ENST00000398822|protein_coding|6/8|c.738C>G|p.Ser246Ser|978/1487|738/1083|246/360||,C|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|3/8|c.738C>G||||||,C|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|1/8|c.738C>G||||||,C|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|2/8|c.738C>G||||||,C|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|6/8|c.738C>G||||||,C|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|4/8|c.738C>G||||||,C|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|7/8|c.738C>G||||||,C|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|5/8|c.738C>G||||||,C|upstream_gene_variant|MODIFIER|RNA5SP493|ENSG00000200985|transcript|ENST00000364115|rRNA||n.-1G>C|||||4059|,C|intron_variant|MODIFIER|MAPK1|ENSG00000100030|transcript|ENST00000544786|protein_coding|5/6|c.724+319C>G|||||| 22 22142954 . C T . . ANN=T|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|3/8|c.724+29G>A||||||,T|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|1/8|c.724+29G>A||||||,T|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|2/8|c.724+29G>A||||||,T|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|6/8|c.724+29G>A||||||,T|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|4/8|c.724+29G>A||||||,T|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|7/8|c.724+29G>A||||||,T|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|5/8|c.724+29G>A||||||,T|sequence_feature|LOW|MAPK1|ENSG00000100030|helix|ENST00000398822|protein_coding|6/8|c.724+29G>A||||||,T|sequence_feature|LOW|MAPK1|ENSG00000100030|helix|ENST00000398822|protein_coding|5/8|c.724+29G>A||||||,T|upstream_gene_variant|MODIFIER|RNA5SP493|ENSG00000200985|transcript|ENST00000364115|rRNA||n.-1C>T|||||3769|,T|intron_variant|MODIFIER|MAPK1|ENSG00000100030|transcript|ENST00000215832|protein_coding|5/8|c.724+29G>A||||||,T|intron_variant|MODIFIER|MAPK1|ENSG00000100030|transcript|ENST00000398822|protein_coding|5/7|c.724+29G>A||||||,T|intron_variant|MODIFIER|MAPK1|ENSG00000100030|transcript|ENST00000544786|protein_coding|5/6|c.724+29G>A|||||| 22 22143123 . G A . . ANN=A|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|3/8|c.610-26C>T||||||,A|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|1/8|c.610-26C>T||||||,A|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|2/8|c.610-26C>T||||||,A|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|6/8|c.610-26C>T||||||,A|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|4/8|c.610-26C>T||||||,A|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|7/8|c.610-26C>T||||||,A|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|5/8|c.610-26C>T||||||,A|sequence_feature|LOW|MAPK1|ENSG00000100030|beta_strand|ENST00000398822|protein_coding|4/8|c.610-26C>T||||||,A|sequence_feature|LOW|MAPK1|ENSG00000100030|beta_strand|ENST00000398822|protein_coding|5/8|c.610-26C>T||||||,A|sequence_feature|LOW|MAPK1|ENSG00000100030|beta_strand|ENST00000544786|protein_coding|4/7|c.610-26C>T||||||,A|sequence_feature|LOW|MAPK1|ENSG00000100030|beta_strand|ENST00000544786|protein_coding|5/7|c.610-26C>T||||||,A|upstream_gene_variant|MODIFIER|RNA5SP493|ENSG00000200985|transcript|ENST00000364115|rRNA||n.-1G>A|||||3600|,A|intron_variant|MODIFIER|MAPK1|ENSG00000100030|transcript|ENST00000215832|protein_coding|4/8|c.610-26C>T||||||,A|intron_variant|MODIFIER|MAPK1|ENSG00000100030|transcript|ENST00000398822|protein_coding|4/7|c.610-26C>T||||||,A|intron_variant|MODIFIER|MAPK1|ENSG00000100030|transcript|ENST00000544786|protein_coding|4/6|c.610-26C>T|||||| 22 22153439 . A G . . ANN=G|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|3/8|c.493-22T>C||||||,G|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|1/8|c.493-22T>C||||||,G|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|2/8|c.493-22T>C||||||,G|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|6/8|c.493-22T>C||||||,G|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|4/8|c.493-22T>C||||||,G|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|7/8|c.493-22T>C||||||,G|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|5/8|c.493-22T>C||||||,G|sequence_feature|LOW|MAPK1|ENSG00000100030|beta_strand|ENST00000398822|protein_coding|3/8|c.493-22T>C||||||,G|sequence_feature|LOW|MAPK1|ENSG00000100030|beta_strand|ENST00000398822|protein_coding|4/8|c.493-22T>C||||||,G|sequence_feature|LOW|MAPK1|ENSG00000100030|beta_strand|ENST00000544786|protein_coding|3/7|c.493-22T>C||||||,G|sequence_feature|LOW|MAPK1|ENSG00000100030|beta_strand|ENST00000544786|protein_coding|4/7|c.493-22T>C||||||,G|intron_variant|MODIFIER|MAPK1|ENSG00000100030|transcript|ENST00000215832|protein_coding|3/8|c.493-22T>C||||||,G|intron_variant|MODIFIER|MAPK1|ENSG00000100030|transcript|ENST00000398822|protein_coding|3/7|c.493-22T>C||||||,G|intron_variant|MODIFIER|MAPK1|ENSG00000100030|transcript|ENST00000544786|protein_coding|3/6|c.493-22T>C|||||| 22 22153447 . T C . . ANN=C|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|3/8|c.493-30A>G||||||,C|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|1/8|c.493-30A>G||||||,C|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|2/8|c.493-30A>G||||||,C|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|6/8|c.493-30A>G||||||,C|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|4/8|c.493-30A>G||||||,C|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|7/8|c.493-30A>G||||||,C|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|5/8|c.493-30A>G||||||,C|sequence_feature|LOW|MAPK1|ENSG00000100030|beta_strand|ENST00000398822|protein_coding|3/8|c.493-30A>G||||||,C|sequence_feature|LOW|MAPK1|ENSG00000100030|beta_strand|ENST00000398822|protein_coding|4/8|c.493-30A>G||||||,C|sequence_feature|LOW|MAPK1|ENSG00000100030|beta_strand|ENST00000544786|protein_coding|3/7|c.493-30A>G||||||,C|sequence_feature|LOW|MAPK1|ENSG00000100030|beta_strand|ENST00000544786|protein_coding|4/7|c.493-30A>G||||||,C|intron_variant|MODIFIER|MAPK1|ENSG00000100030|transcript|ENST00000215832|protein_coding|3/8|c.493-30A>G||||||,C|intron_variant|MODIFIER|MAPK1|ENSG00000100030|transcript|ENST00000398822|protein_coding|3/7|c.493-30A>G||||||,C|intron_variant|MODIFIER|MAPK1|ENSG00000100030|transcript|ENST00000544786|protein_coding|3/6|c.493-30A>G|||||| 22 22160095 . G A . . ANN=A|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|3/8|c.492+44C>T||||||,A|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|1/8|c.492+44C>T||||||,A|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|2/8|c.492+44C>T||||||,A|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|6/8|c.492+44C>T||||||,A|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|4/8|c.492+44C>T||||||,A|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|7/8|c.492+44C>T||||||,A|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|5/8|c.492+44C>T||||||,A|sequence_feature|LOW|MAPK1|ENSG00000100030|beta_strand|ENST00000398822|protein_coding|3/8|c.492+44C>T||||||,A|sequence_feature|LOW|MAPK1|ENSG00000100030|beta_strand|ENST00000398822|protein_coding|4/8|c.492+44C>T||||||,A|sequence_feature|LOW|MAPK1|ENSG00000100030|beta_strand|ENST00000544786|protein_coding|3/7|c.492+44C>T||||||,A|sequence_feature|LOW|MAPK1|ENSG00000100030|beta_strand|ENST00000544786|protein_coding|4/7|c.492+44C>T||||||,A|intron_variant|MODIFIER|MAPK1|ENSG00000100030|transcript|ENST00000215832|protein_coding|3/8|c.492+44C>T||||||,A|intron_variant|MODIFIER|MAPK1|ENSG00000100030|transcript|ENST00000398822|protein_coding|3/7|c.492+44C>T||||||,A|intron_variant|MODIFIER|MAPK1|ENSG00000100030|transcript|ENST00000544786|protein_coding|3/6|c.492+44C>T|||||| 22 22160151 . G A . . ANN=A|synonymous_variant|LOW|MAPK1|ENSG00000100030|transcript|ENST00000215832|protein_coding|3/9|c.480C>T|p.Thr160Thr|669/11022|480/1083|160/360||,A|synonymous_variant|LOW|MAPK1|ENSG00000100030|transcript|ENST00000398822|protein_coding|3/8|c.480C>T|p.Thr160Thr|720/1487|480/1083|160/360||,A|synonymous_variant|LOW|MAPK1|ENSG00000100030|transcript|ENST00000544786|protein_coding|3/7|c.480C>T|p.Thr160Thr|480/951|480/951|160/316||,A|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|3/8|c.480C>T||||||,A|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|1/8|c.480C>T||||||,A|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|2/8|c.480C>T||||||,A|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|6/8|c.480C>T||||||,A|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|4/8|c.480C>T||||||,A|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|7/8|c.480C>T||||||,A|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|5/8|c.480C>T||||||,A|sequence_feature|LOW|MAPK1|ENSG00000100030|turn|ENST00000398822|protein_coding|3/8|c.480C>T||||||,A|sequence_feature|LOW|MAPK1|ENSG00000100030|turn|ENST00000544786|protein_coding|3/7|c.480C>T|||||| 22 22160214 . A G . . ANN=G|synonymous_variant|LOW|MAPK1|ENSG00000100030|transcript|ENST00000215832|protein_coding|3/9|c.417T>C|p.Tyr139Tyr|606/11022|417/1083|139/360||,G|synonymous_variant|LOW|MAPK1|ENSG00000100030|transcript|ENST00000398822|protein_coding|3/8|c.417T>C|p.Tyr139Tyr|657/1487|417/1083|139/360||,G|synonymous_variant|LOW|MAPK1|ENSG00000100030|transcript|ENST00000544786|protein_coding|3/7|c.417T>C|p.Tyr139Tyr|417/951|417/951|139/316||,G|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|3/8|c.417T>C||||||,G|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|1/8|c.417T>C||||||,G|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|2/8|c.417T>C||||||,G|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|6/8|c.417T>C||||||,G|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|4/8|c.417T>C||||||,G|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|7/8|c.417T>C||||||,G|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|5/8|c.417T>C||||||,G|sequence_feature|LOW|MAPK1|ENSG00000100030|helix|ENST00000398822|protein_coding|3/8|c.417T>C||||||,G|sequence_feature|LOW|MAPK1|ENSG00000100030|helix|ENST00000544786|protein_coding|3/7|c.417T>C|||||| 22 22160301 . T C . . ANN=C|synonymous_variant|LOW|MAPK1|ENSG00000100030|transcript|ENST00000215832|protein_coding|3/9|c.330A>G|p.Thr110Thr|519/11022|330/1083|110/360||,C|synonymous_variant|LOW|MAPK1|ENSG00000100030|transcript|ENST00000398822|protein_coding|3/8|c.330A>G|p.Thr110Thr|570/1487|330/1083|110/360||,C|synonymous_variant|LOW|MAPK1|ENSG00000100030|transcript|ENST00000544786|protein_coding|3/7|c.330A>G|p.Thr110Thr|330/951|330/951|110/316||,C|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|3/8|c.330A>G||||||,C|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|1/8|c.330A>G||||||,C|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|2/8|c.330A>G||||||,C|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|6/8|c.330A>G||||||,C|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|4/8|c.330A>G||||||,C|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|7/8|c.330A>G||||||,C|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|5/8|c.330A>G||||||,C|sequence_feature|LOW|MAPK1|ENSG00000100030|beta_strand|ENST00000398822|protein_coding|3/8|c.330A>G||||||,C|sequence_feature|LOW|MAPK1|ENSG00000100030|beta_strand|ENST00000544786|protein_coding|3/7|c.330A>G|||||| 22 22161974 . G A . . ANN=A|missense_variant|MODERATE|MAPK1|ENSG00000100030|transcript|ENST00000215832|protein_coding|2/9|c.281C>T|p.Thr94Ile|470/11022|281/1083|94/360||,A|missense_variant|MODERATE|MAPK1|ENSG00000100030|transcript|ENST00000398822|protein_coding|2/8|c.281C>T|p.Thr94Ile|521/1487|281/1083|94/360||,A|missense_variant|MODERATE|MAPK1|ENSG00000100030|transcript|ENST00000544786|protein_coding|2/7|c.281C>T|p.Thr94Ile|281/951|281/951|94/316||,A|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|3/8|c.281C>T||||||,A|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|1/8|c.281C>T||||||,A|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|2/8|c.281C>T||||||,A|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|6/8|c.281C>T||||||,A|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|4/8|c.281C>T||||||,A|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|7/8|c.281C>T||||||,A|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|5/8|c.281C>T|||||| 22 22162126 . A G . . ANN=G|synonymous_variant|LOW|MAPK1|ENSG00000100030|transcript|ENST00000215832|protein_coding|2/9|c.129T>C|p.Tyr43Tyr|318/11022|129/1083|43/360||,G|synonymous_variant|LOW|MAPK1|ENSG00000100030|transcript|ENST00000398822|protein_coding|2/8|c.129T>C|p.Tyr43Tyr|369/1487|129/1083|43/360||,G|synonymous_variant|LOW|MAPK1|ENSG00000100030|transcript|ENST00000544786|protein_coding|2/7|c.129T>C|p.Tyr43Tyr|129/951|129/951|43/316||,G|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|3/8|c.129T>C||||||,G|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|1/8|c.129T>C||||||,G|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|2/8|c.129T>C||||||,G|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|6/8|c.129T>C||||||,G|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|4/8|c.129T>C||||||,G|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|7/8|c.129T>C||||||,G|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|5/8|c.129T>C||||||,G|sequence_feature|LOW|MAPK1|ENSG00000100030|beta_strand|ENST00000398822|protein_coding|1/8|c.129T>C||||||,G|sequence_feature|LOW|MAPK1|ENSG00000100030|beta_strand|ENST00000398822|protein_coding|2/8|c.129T>C||||||,G|sequence_feature|LOW|MAPK1|ENSG00000100030|beta_strand|ENST00000544786|protein_coding|2/7|c.129T>C||||||,G|sequence_feature|LOW|MAPK1|ENSG00000100030|beta_strand|ENST00000544786|protein_coding|1/7|c.129T>C|||||| 22 22221623 . G A . . ANN=A|synonymous_variant|LOW|MAPK1|ENSG00000100030|transcript|ENST00000215832|protein_coding|1/9|c.108C>T|p.Tyr36Tyr|297/11022|108/1083|36/360||,A|synonymous_variant|LOW|MAPK1|ENSG00000100030|transcript|ENST00000398822|protein_coding|1/8|c.108C>T|p.Tyr36Tyr|348/1487|108/1083|36/360||,A|synonymous_variant|LOW|MAPK1|ENSG00000100030|transcript|ENST00000544786|protein_coding|1/7|c.108C>T|p.Tyr36Tyr|108/951|108/951|36/316||,A|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|3/8|c.108C>T||||||,A|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|1/8|c.108C>T||||||,A|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|2/8|c.108C>T||||||,A|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|6/8|c.108C>T||||||,A|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|4/8|c.108C>T||||||,A|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|7/8|c.108C>T||||||,A|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|5/8|c.108C>T||||||,A|sequence_feature|LOW|MAPK1|ENSG00000100030|nucleotide_phosphate-binding_region:ATP|ENST00000398822|protein_coding|1/8|c.108C>T||||||,A|sequence_feature|LOW|MAPK1|ENSG00000100030|nucleotide_phosphate-binding_region:ATP|ENST00000544786|protein_coding|1/7|c.108C>T|||||| 22 22221680 . C T . . ANN=T|synonymous_variant|LOW|MAPK1|ENSG00000100030|transcript|ENST00000215832|protein_coding|1/9|c.51G>A|p.Gln17Gln|240/11022|51/1083|17/360||,T|synonymous_variant|LOW|MAPK1|ENSG00000100030|transcript|ENST00000398822|protein_coding|1/8|c.51G>A|p.Gln17Gln|291/1487|51/1083|17/360||,T|synonymous_variant|LOW|MAPK1|ENSG00000100030|transcript|ENST00000544786|protein_coding|1/7|c.51G>A|p.Gln17Gln|51/951|51/951|17/316||,T|sequence_feature|LOW|MAPK1|ENSG00000100030|beta_strand|ENST00000398822|protein_coding|1/8|c.51G>A||||||,T|sequence_feature|LOW|MAPK1|ENSG00000100030|beta_strand|ENST00000544786|protein_coding|1/7|c.51G>A|||||| 22 22277485 . G C . . ANN=C|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000263212|protein_coding|8/8|c.1345C>G|p.Gln449Glu|1451/5143|1345/1365|449/454||,C|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000407142|protein_coding|6/6|c.841C>G|p.Gln281Glu|1902/5587|841/861|281/286||,C|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000538191|protein_coding|6/6|c.1033C>G|p.Gln345Glu|1349/1634|1033/1053|345/350||,C|downstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000496143|processed_transcript||n.*544C>G|||||13|,C|downstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000484588|processed_transcript||n.*348C>G|||||1764|,C|downstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000397495|protein_coding||c.*1186C>G|||||1764| 22 22277521 . G A . . ANN=A|stop_gained|HIGH|PPM1F|ENSG00000100034|transcript|ENST00000263212|protein_coding|8/8|c.1309C>T|p.Gln437*|1415/5143|1309/1365|437/454||,A|stop_gained|HIGH|PPM1F|ENSG00000100034|transcript|ENST00000407142|protein_coding|6/6|c.805C>T|p.Gln269*|1866/5587|805/861|269/286||,A|stop_gained|HIGH|PPM1F|ENSG00000100034|transcript|ENST00000538191|protein_coding|6/6|c.997C>T|p.Gln333*|1313/1634|997/1053|333/350||,A|downstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000484588|processed_transcript||n.*348C>T|||||1728|,A|downstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000397495|protein_coding||c.*1186C>T|||||1728|,A|non_coding_exon_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000496143|processed_transcript|3/3|n.521C>T|||||| 22 22277571 . A C . . ANN=C|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000263212|protein_coding|8/8|c.1259T>G|p.Leu420Arg|1365/5143|1259/1365|420/454||,C|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000407142|protein_coding|6/6|c.755T>G|p.Leu252Arg|1816/5587|755/861|252/286||,C|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000538191|protein_coding|6/6|c.947T>G|p.Leu316Arg|1263/1634|947/1053|316/350||,C|downstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000484588|processed_transcript||n.*348T>G|||||1678|,C|downstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000397495|protein_coding||c.*1186T>G|||||1678|,C|non_coding_exon_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000496143|processed_transcript|3/3|n.471T>G|||||| 22 22277631 . C T . . ANN=T|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000263212|protein_coding|8/8|c.1199G>A|p.Arg400Gln|1305/5143|1199/1365|400/454||,T|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000407142|protein_coding|6/6|c.695G>A|p.Arg232Gln|1756/5587|695/861|232/286||,T|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000538191|protein_coding|6/6|c.887G>A|p.Arg296Gln|1203/1634|887/1053|296/350||,T|downstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000484588|processed_transcript||n.*348G>A|||||1618|,T|downstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000397495|protein_coding||c.*1186G>A|||||1618|,T|non_coding_exon_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000496143|processed_transcript|3/3|n.411G>A|||||| 22 22277667 . C T . . ANN=T|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000263212|protein_coding|8/8|c.1163G>A|p.Arg388His|1269/5143|1163/1365|388/454||,T|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000407142|protein_coding|6/6|c.659G>A|p.Arg220His|1720/5587|659/861|220/286||,T|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000538191|protein_coding|6/6|c.851G>A|p.Arg284His|1167/1634|851/1053|284/350||,T|downstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000484588|processed_transcript||n.*348G>A|||||1582|,T|downstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000397495|protein_coding||c.*1186G>A|||||1582|,T|non_coding_exon_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000496143|processed_transcript|3/3|n.375G>A|||||| 22 22277675 . G A . . ANN=A|synonymous_variant|LOW|PPM1F|ENSG00000100034|transcript|ENST00000263212|protein_coding|8/8|c.1155C>T|p.Ser385Ser|1261/5143|1155/1365|385/454||,A|synonymous_variant|LOW|PPM1F|ENSG00000100034|transcript|ENST00000407142|protein_coding|6/6|c.651C>T|p.Ser217Ser|1712/5587|651/861|217/286||,A|synonymous_variant|LOW|PPM1F|ENSG00000100034|transcript|ENST00000538191|protein_coding|6/6|c.843C>T|p.Ser281Ser|1159/1634|843/1053|281/350||,A|downstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000484588|processed_transcript||n.*348C>T|||||1574|,A|downstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000397495|protein_coding||c.*1186C>T|||||1574|,A|non_coding_exon_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000496143|processed_transcript|3/3|n.367C>T|||||| 22 22277784 . G A . . ANN=A|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000263212|protein_coding|8/8|c.1046C>T|p.Thr349Met|1152/5143|1046/1365|349/454||,A|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000407142|protein_coding|6/6|c.542C>T|p.Thr181Met|1603/5587|542/861|181/286||,A|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000538191|protein_coding|6/6|c.734C>T|p.Thr245Met|1050/1634|734/1053|245/350||,A|downstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000484588|processed_transcript||n.*348C>T|||||1465|,A|downstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000397495|protein_coding||c.*1186C>T|||||1465|,A|non_coding_exon_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000496143|processed_transcript|3/3|n.258C>T|||||| 22 22277793 . C T . . ANN=T|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000263212|protein_coding|8/8|c.1037G>A|p.Arg346Gln|1143/5143|1037/1365|346/454||,T|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000407142|protein_coding|6/6|c.533G>A|p.Arg178Gln|1594/5587|533/861|178/286||,T|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000538191|protein_coding|6/6|c.725G>A|p.Arg242Gln|1041/1634|725/1053|242/350||,T|downstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000484588|processed_transcript||n.*348G>A|||||1456|,T|downstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000397495|protein_coding||c.*1186G>A|||||1456|,T|non_coding_exon_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000496143|processed_transcript|3/3|n.249G>A|||||| 22 22277794 . G A . . ANN=A|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000263212|protein_coding|8/8|c.1036C>T|p.Arg346Trp|1142/5143|1036/1365|346/454||,A|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000407142|protein_coding|6/6|c.532C>T|p.Arg178Trp|1593/5587|532/861|178/286||,A|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000538191|protein_coding|6/6|c.724C>T|p.Arg242Trp|1040/1634|724/1053|242/350||,A|downstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000484588|processed_transcript||n.*348C>T|||||1455|,A|downstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000397495|protein_coding||c.*1186C>T|||||1455|,A|non_coding_exon_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000496143|processed_transcript|3/3|n.248C>T|||||| 22 22277813 . C G . . ANN=G|synonymous_variant|LOW|PPM1F|ENSG00000100034|transcript|ENST00000263212|protein_coding|8/8|c.1017G>C|p.Gly339Gly|1123/5143|1017/1365|339/454||,G|synonymous_variant|LOW|PPM1F|ENSG00000100034|transcript|ENST00000407142|protein_coding|6/6|c.513G>C|p.Gly171Gly|1574/5587|513/861|171/286||,G|synonymous_variant|LOW|PPM1F|ENSG00000100034|transcript|ENST00000538191|protein_coding|6/6|c.705G>C|p.Gly235Gly|1021/1634|705/1053|235/350||,G|downstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000484588|processed_transcript||n.*348G>C|||||1436|,G|downstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000397495|protein_coding||c.*1186G>C|||||1436|,G|non_coding_exon_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000496143|processed_transcript|3/3|n.229G>C|||||| 22 22277855 . G A . . ANN=A|downstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000484588|processed_transcript||n.*348C>T|||||1394|,A|downstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000397495|protein_coding||c.*1186C>T|||||1394|,A|intron_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000263212|protein_coding|7/7|c.986-11C>T||||||,A|intron_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000407142|protein_coding|5/5|c.482-11C>T||||||,A|intron_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000538191|protein_coding|5/5|c.674-11C>T||||||,A|intron_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000496143|processed_transcript|2/2|n.198-11C>T|||||| 22 22279929 . C T . . ANN=T|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000397495|protein_coding|7/7|c.998G>A|p.Arg333Lys|1098/1778|998/1086|333/361||,T|intron_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000263212|protein_coding|7/7|c.985+13G>A||||||,T|intron_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000407142|protein_coding|5/5|c.481+13G>A||||||,T|intron_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000538191|protein_coding|5/5|c.673+13G>A||||||,T|intron_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000496143|processed_transcript|2/2|n.197+13G>A||||||,T|intron_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000484588|processed_transcript|2/2|n.195+13G>A|||||| 22 22279958 . G T . . ANN=T|synonymous_variant|LOW|PPM1F|ENSG00000100034|transcript|ENST00000263212|protein_coding|7/8|c.969C>A|p.Ala323Ala|1075/5143|969/1365|323/454||,T|synonymous_variant|LOW|PPM1F|ENSG00000100034|transcript|ENST00000407142|protein_coding|5/6|c.465C>A|p.Ala155Ala|1526/5587|465/861|155/286||,T|synonymous_variant|LOW|PPM1F|ENSG00000100034|transcript|ENST00000538191|protein_coding|5/6|c.657C>A|p.Ala219Ala|973/1634|657/1053|219/350||,T|synonymous_variant|LOW|PPM1F|ENSG00000100034|transcript|ENST00000397495|protein_coding|7/7|c.969C>A|p.Ala323Ala|1069/1778|969/1086|323/361||,T|non_coding_exon_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000496143|processed_transcript|2/3|n.181C>A||||||,T|non_coding_exon_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000484588|processed_transcript|2/3|n.179C>A|||||| 22 22279964 . G C . . ANN=C|synonymous_variant|LOW|PPM1F|ENSG00000100034|transcript|ENST00000263212|protein_coding|7/8|c.963C>G|p.Thr321Thr|1069/5143|963/1365|321/454||,C|synonymous_variant|LOW|PPM1F|ENSG00000100034|transcript|ENST00000407142|protein_coding|5/6|c.459C>G|p.Thr153Thr|1520/5587|459/861|153/286||,C|synonymous_variant|LOW|PPM1F|ENSG00000100034|transcript|ENST00000538191|protein_coding|5/6|c.651C>G|p.Thr217Thr|967/1634|651/1053|217/350||,C|synonymous_variant|LOW|PPM1F|ENSG00000100034|transcript|ENST00000397495|protein_coding|7/7|c.963C>G|p.Thr321Thr|1063/1778|963/1086|321/361||,C|non_coding_exon_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000496143|processed_transcript|2/3|n.175C>G||||||,C|non_coding_exon_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000484588|processed_transcript|2/3|n.173C>G|||||| 22 22280051 . C T . . ANN=T|intron_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000263212|protein_coding|6/7|c.892-16G>A||||||,T|intron_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000407142|protein_coding|4/5|c.388-16G>A||||||,T|intron_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000538191|protein_coding|4/5|c.580-16G>A||||||,T|intron_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000496143|processed_transcript|1/2|n.104-16G>A||||||,T|intron_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000484588|processed_transcript|1/2|n.102-16G>A||||||,T|intron_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000397495|protein_coding|6/6|c.892-16G>A|||||| 22 22285480 . G A . . ANN=A|downstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000445205|protein_coding||c.*650C>T|||||158|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000424647|protein_coding||c.*576C>T|||||2916|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000263212|protein_coding|6/7|c.891+40C>T||||||,A|intron_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000407142|protein_coding|4/5|c.387+40C>T||||||,A|intron_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000538191|protein_coding|4/5|c.579+40C>T||||||,A|intron_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000484588|processed_transcript|1/2|n.101+40C>T||||||,A|intron_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000397495|protein_coding|6/6|c.891+40C>T|||||| 22 22285616 . C T . . ANN=T|synonymous_variant|LOW|PPM1F|ENSG00000100034|transcript|ENST00000263212|protein_coding|6/8|c.795G>A|p.Ala265Ala|901/5143|795/1365|265/454||,T|synonymous_variant|LOW|PPM1F|ENSG00000100034|transcript|ENST00000407142|protein_coding|4/6|c.291G>A|p.Ala97Ala|1352/5587|291/861|97/286||,T|synonymous_variant|LOW|PPM1F|ENSG00000100034|transcript|ENST00000538191|protein_coding|4/6|c.483G>A|p.Ala161Ala|799/1634|483/1053|161/350||,T|synonymous_variant|LOW|PPM1F|ENSG00000100034|transcript|ENST00000397495|protein_coding|6/7|c.795G>A|p.Ala265Ala|895/1778|795/1086|265/361||,T|downstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000445205|protein_coding||c.*650G>A|||||22|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000424647|protein_coding||c.*576G>A|||||2780|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000484588|processed_transcript|1/3|n.5G>A|||||| 22 22285632 . G A . . ANN=A|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000263212|protein_coding|6/8|c.779C>T|p.Ala260Val|885/5143|779/1365|260/454||,A|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000407142|protein_coding|4/6|c.275C>T|p.Ala92Val|1336/5587|275/861|92/286||,A|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000538191|protein_coding|4/6|c.467C>T|p.Ala156Val|783/1634|467/1053|156/350||,A|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000397495|protein_coding|6/7|c.779C>T|p.Ala260Val|879/1778|779/1086|260/361||,A|upstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000484588|processed_transcript||n.-1C>T|||||12|,A|downstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000445205|protein_coding||c.*650C>T|||||6|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000424647|protein_coding||c.*576C>T|||||2764|WARNING_TRANSCRIPT_NO_STOP_CODON 22 22287862 . G A . . ANN=A|synonymous_variant|LOW|PPM1F|ENSG00000100034|transcript|ENST00000263212|protein_coding|5/8|c.648C>T|p.Asn216Asn|754/5143|648/1365|216/454||,A|synonymous_variant|LOW|PPM1F|ENSG00000100034|transcript|ENST00000407142|protein_coding|3/6|c.144C>T|p.Asn48Asn|1205/5587|144/861|48/286||,A|synonymous_variant|LOW|PPM1F|ENSG00000100034|transcript|ENST00000538191|protein_coding|3/6|c.336C>T|p.Asn112Asn|652/1634|336/1053|112/350||,A|synonymous_variant|LOW|PPM1F|ENSG00000100034|transcript|ENST00000397495|protein_coding|5/7|c.648C>T|p.Asn216Asn|748/1778|648/1086|216/361||,A|synonymous_variant|LOW|PPM1F|ENSG00000100034|transcript|ENST00000445205|protein_coding|4/5|c.144C>T|p.Asn48Asn|525/650|144/269|48/88||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|LL22NC03-86G7.1|ENSG00000224086|transcript|ENST00000458178|antisense||n.-1G>A|||||4803|,A|upstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000484588|processed_transcript||n.-1C>T|||||2242|,A|upstream_gene_variant|MODIFIER|LL22NC03-86G7.1|ENSG00000224086|transcript|ENST00000538634|antisense||n.-1G>A|||||4747|,A|downstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000424647|protein_coding||c.*576C>T|||||534|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000486259|processed_transcript||n.*583C>T|||||3472| 22 22287964 . T C . . ANN=C|upstream_gene_variant|MODIFIER|LL22NC03-86G7.1|ENSG00000224086|transcript|ENST00000458178|antisense||n.-1T>C|||||4701|,C|upstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000484588|processed_transcript||n.-1A>G|||||2344|,C|upstream_gene_variant|MODIFIER|LL22NC03-86G7.1|ENSG00000224086|transcript|ENST00000538634|antisense||n.-1T>C|||||4645|,C|downstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000424647|protein_coding||c.*576A>G|||||432|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000486259|processed_transcript||n.*583A>G|||||3370|,C|intron_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000263212|protein_coding|4/7|c.559-13A>G||||||,C|intron_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000407142|protein_coding|2/5|c.55-13A>G||||||,C|intron_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000538191|protein_coding|2/5|c.247-13A>G||||||,C|intron_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000397495|protein_coding|4/6|c.559-13A>G||||||,C|intron_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000445205|protein_coding|3/4|c.55-13A>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 22287988 . A T . . ANN=T|upstream_gene_variant|MODIFIER|LL22NC03-86G7.1|ENSG00000224086|transcript|ENST00000458178|antisense||n.-1A>T|||||4677|,T|upstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000484588|processed_transcript||n.-1T>A|||||2368|,T|upstream_gene_variant|MODIFIER|LL22NC03-86G7.1|ENSG00000224086|transcript|ENST00000538634|antisense||n.-1A>T|||||4621|,T|downstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000424647|protein_coding||c.*576T>A|||||408|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000486259|processed_transcript||n.*583T>A|||||3346|,T|intron_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000263212|protein_coding|4/7|c.559-37T>A||||||,T|intron_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000407142|protein_coding|2/5|c.55-37T>A||||||,T|intron_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000538191|protein_coding|2/5|c.247-37T>A||||||,T|intron_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000397495|protein_coding|4/6|c.559-37T>A||||||,T|intron_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000445205|protein_coding|3/4|c.55-37T>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 22288383 . C T . . ANN=T|upstream_gene_variant|MODIFIER|LL22NC03-86G7.1|ENSG00000224086|transcript|ENST00000458178|antisense||n.-1C>T|||||4282|,T|upstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000484588|processed_transcript||n.-1G>A|||||2763|,T|upstream_gene_variant|MODIFIER|LL22NC03-86G7.1|ENSG00000224086|transcript|ENST00000538634|antisense||n.-1C>T|||||4226|,T|downstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000424647|protein_coding||c.*576G>A|||||13|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000486259|processed_transcript||n.*583G>A|||||2951|,T|intron_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000263212|protein_coding|4/7|c.558+13G>A||||||,T|intron_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000407142|protein_coding|2/5|c.54+13G>A||||||,T|intron_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000538191|protein_coding|2/5|c.246+13G>A||||||,T|intron_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000397495|protein_coding|4/6|c.558+13G>A||||||,T|intron_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000445205|protein_coding|3/4|c.54+13G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 22288399 . C T . . ANN=T|synonymous_variant|LOW|PPM1F|ENSG00000100034|transcript|ENST00000263212|protein_coding|4/8|c.555G>A|p.Leu185Leu|661/5143|555/1365|185/454||,T|synonymous_variant|LOW|PPM1F|ENSG00000100034|transcript|ENST00000407142|protein_coding|2/6|c.51G>A|p.Leu17Leu|1112/5587|51/861|17/286||,T|synonymous_variant|LOW|PPM1F|ENSG00000100034|transcript|ENST00000538191|protein_coding|2/6|c.243G>A|p.Leu81Leu|559/1634|243/1053|81/350||,T|synonymous_variant|LOW|PPM1F|ENSG00000100034|transcript|ENST00000397495|protein_coding|4/7|c.555G>A|p.Leu185Leu|655/1778|555/1086|185/361||,T|synonymous_variant|LOW|PPM1F|ENSG00000100034|transcript|ENST00000445205|protein_coding|3/5|c.51G>A|p.Leu17Leu|432/650|51/269|17/88||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|PPM1F|ENSG00000100034|transcript|ENST00000424647|protein_coding|2/2|c.243G>A|p.Leu81Leu|573/576|243/246|81/81||WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|LL22NC03-86G7.1|ENSG00000224086|transcript|ENST00000458178|antisense||n.-1C>T|||||4266|,T|upstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000484588|processed_transcript||n.-1G>A|||||2779|,T|upstream_gene_variant|MODIFIER|LL22NC03-86G7.1|ENSG00000224086|transcript|ENST00000538634|antisense||n.-1C>T|||||4210|,T|downstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000486259|processed_transcript||n.*583G>A|||||2935| 22 22288560 . G A . . ANN=A|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000263212|protein_coding|4/8|c.394C>T|p.Arg132Cys|500/5143|394/1365|132/454||,A|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000538191|protein_coding|2/6|c.82C>T|p.Arg28Cys|398/1634|82/1053|28/350||,A|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000397495|protein_coding|4/7|c.394C>T|p.Arg132Cys|494/1778|394/1086|132/361||,A|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000424647|protein_coding|2/2|c.82C>T|p.Arg28Cys|412/576|82/246|28/81||WARNING_TRANSCRIPT_NO_STOP_CODON,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|PPM1F|ENSG00000100034|transcript|ENST00000407142|protein_coding|2/6|c.-111C>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|PPM1F|ENSG00000100034|transcript|ENST00000445205|protein_coding|3/5|c.-111C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|5_prime_UTR_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000407142|protein_coding|2/6|c.-111C>T|||||111|,A|5_prime_UTR_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000445205|protein_coding|3/5|c.-111C>T|||||111|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|LL22NC03-86G7.1|ENSG00000224086|transcript|ENST00000458178|antisense||n.-1G>A|||||4105|,A|upstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000484588|processed_transcript||n.-1C>T|||||2940|,A|upstream_gene_variant|MODIFIER|LL22NC03-86G7.1|ENSG00000224086|transcript|ENST00000538634|antisense||n.-1G>A|||||4049|,A|downstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000486259|processed_transcript||n.*583C>T|||||2774| 22 22293920 . TTCC T . . ANN=|disruptive_inframe_deletion|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000263212|protein_coding|3/8|c.336_338delGGA|p.Glu113del|444/5143|336/1365|112/454||,|disruptive_inframe_deletion|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000397495|protein_coding|3/7|c.336_338delGGA|p.Glu113del|438/1778|336/1086|112/361||,|5_prime_UTR_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000445205|protein_coding|2/5|c.-169_-167delGGA|||||5472|WARNING_TRANSCRIPT_INCOMPLETE,|upstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000407142|protein_coding||c.-1062_-1062delGGA|||||965|,|upstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000538191|protein_coding||c.-317_-317delGGA|||||987|,|upstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000424647|protein_coding||c.-331_-331delGGA|||||973|WARNING_TRANSCRIPT_NO_STOP_CODON,|upstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000486259|processed_transcript||n.-1_-1delGGA|||||1018|,|non_coding_exon_variant|MODIFIER|LL22NC03-86G7.1|ENSG00000224086|transcript|ENST00000458178|antisense|1/2|n.1262_1264delCTC||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|LL22NC03-86G7.1|ENSG00000224086|transcript|ENST00000538634|antisense|1/1|n.1318_1320delCTC||||||INFO_REALIGN_3_PRIME 22 22293938 . C G . . ANN=G|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000263212|protein_coding|3/8|c.321G>C|p.Glu107Asp|427/5143|321/1365|107/454||,G|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000397495|protein_coding|3/7|c.321G>C|p.Glu107Asp|421/1778|321/1086|107/361||,G|sequence_feature|LOW|PPM1F|ENSG00000100034|compositionally_biased_region:Poly-Glu|ENST00000263212|protein_coding|3/8|c.321G>C||||||,G|5_prime_UTR_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000445205|protein_coding|2/5|c.-184G>C|||||5489|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000407142|protein_coding||c.-1062G>C|||||982|,G|upstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000538191|protein_coding||c.-317G>C|||||1004|,G|upstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000424647|protein_coding||c.-331G>C|||||990|WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000486259|processed_transcript||n.-1G>C|||||1035|,G|non_coding_exon_variant|MODIFIER|LL22NC03-86G7.1|ENSG00000224086|transcript|ENST00000458178|antisense|1/2|n.1274C>G||||||,G|non_coding_exon_variant|MODIFIER|LL22NC03-86G7.1|ENSG00000224086|transcript|ENST00000538634|antisense|1/1|n.1330C>G|||||| 22 22293944 . C T . . ANN=T|synonymous_variant|LOW|PPM1F|ENSG00000100034|transcript|ENST00000263212|protein_coding|3/8|c.315G>A|p.Glu105Glu|421/5143|315/1365|105/454||,T|synonymous_variant|LOW|PPM1F|ENSG00000100034|transcript|ENST00000397495|protein_coding|3/7|c.315G>A|p.Glu105Glu|415/1778|315/1086|105/361||,T|sequence_feature|LOW|PPM1F|ENSG00000100034|compositionally_biased_region:Poly-Glu|ENST00000263212|protein_coding|3/8|c.315G>A||||||,T|5_prime_UTR_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000445205|protein_coding|2/5|c.-190G>A|||||5495|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000407142|protein_coding||c.-1062G>A|||||988|,T|upstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000538191|protein_coding||c.-317G>A|||||1010|,T|upstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000424647|protein_coding||c.-331G>A|||||996|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000486259|processed_transcript||n.-1G>A|||||1041|,T|non_coding_exon_variant|MODIFIER|LL22NC03-86G7.1|ENSG00000224086|transcript|ENST00000458178|antisense|1/2|n.1280C>T||||||,T|non_coding_exon_variant|MODIFIER|LL22NC03-86G7.1|ENSG00000224086|transcript|ENST00000538634|antisense|1/1|n.1336C>T|||||| 22 22293959 . C T . . ANN=T|synonymous_variant|LOW|PPM1F|ENSG00000100034|transcript|ENST00000263212|protein_coding|3/8|c.300G>A|p.Arg100Arg|406/5143|300/1365|100/454||,T|synonymous_variant|LOW|PPM1F|ENSG00000100034|transcript|ENST00000397495|protein_coding|3/7|c.300G>A|p.Arg100Arg|400/1778|300/1086|100/361||,T|5_prime_UTR_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000445205|protein_coding|2/5|c.-205G>A|||||5510|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000407142|protein_coding||c.-1062G>A|||||1003|,T|upstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000538191|protein_coding||c.-317G>A|||||1025|,T|upstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000424647|protein_coding||c.-331G>A|||||1011|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000486259|processed_transcript||n.-1G>A|||||1056|,T|non_coding_exon_variant|MODIFIER|LL22NC03-86G7.1|ENSG00000224086|transcript|ENST00000458178|antisense|1/2|n.1295C>T||||||,T|non_coding_exon_variant|MODIFIER|LL22NC03-86G7.1|ENSG00000224086|transcript|ENST00000538634|antisense|1/1|n.1351C>T|||||| 22 22300211 . C A . . ANN=A|splice_region_variant&intron_variant|LOW|PPM1F|ENSG00000100034|transcript|ENST00000263212|protein_coding|2/7|c.206+4G>T||||||,A|splice_region_variant&intron_variant|LOW|PPM1F|ENSG00000100034|transcript|ENST00000397495|protein_coding|2/6|c.206+4G>T||||||,A|downstream_gene_variant|MODIFIER|LL22NC03-86G7.1|ENSG00000224086|transcript|ENST00000458178|antisense||n.*3647C>A|||||2412| 22 22300253 . G A . . ANN=A|synonymous_variant|LOW|PPM1F|ENSG00000100034|transcript|ENST00000263212|protein_coding|2/8|c.168C>T|p.Gly56Gly|274/5143|168/1365|56/454||,A|synonymous_variant|LOW|PPM1F|ENSG00000100034|transcript|ENST00000397495|protein_coding|2/7|c.168C>T|p.Gly56Gly|268/1778|168/1086|56/361||,A|downstream_gene_variant|MODIFIER|LL22NC03-86G7.1|ENSG00000224086|transcript|ENST00000458178|antisense||n.*3647G>A|||||2454| 22 22300280 . C T . . ANN=T|synonymous_variant|LOW|PPM1F|ENSG00000100034|transcript|ENST00000263212|protein_coding|2/8|c.141G>A|p.Thr47Thr|247/5143|141/1365|47/454||,T|synonymous_variant|LOW|PPM1F|ENSG00000100034|transcript|ENST00000397495|protein_coding|2/7|c.141G>A|p.Thr47Thr|241/1778|141/1086|47/361||,T|downstream_gene_variant|MODIFIER|LL22NC03-86G7.1|ENSG00000224086|transcript|ENST00000458178|antisense||n.*3647C>T|||||2481| 22 22300281 . G A . . ANN=A|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000263212|protein_coding|2/8|c.140C>T|p.Thr47Met|246/5143|140/1365|47/454||,A|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000397495|protein_coding|2/7|c.140C>T|p.Thr47Met|240/1778|140/1086|47/361||,A|downstream_gene_variant|MODIFIER|LL22NC03-86G7.1|ENSG00000224086|transcript|ENST00000458178|antisense||n.*3647G>A|||||2482| 22 22300364 . G T . . ANN=T|synonymous_variant|LOW|PPM1F|ENSG00000100034|transcript|ENST00000263212|protein_coding|2/8|c.57C>A|p.Thr19Thr|163/5143|57/1365|19/454||,T|synonymous_variant|LOW|PPM1F|ENSG00000100034|transcript|ENST00000397495|protein_coding|2/7|c.57C>A|p.Thr19Thr|157/1778|57/1086|19/361||,T|downstream_gene_variant|MODIFIER|LL22NC03-86G7.1|ENSG00000224086|transcript|ENST00000458178|antisense||n.*3647G>T|||||2565| 22 22300380 . C G . . ANN=G|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000263212|protein_coding|2/8|c.41G>C|p.Ser14Thr|147/5143|41/1365|14/454||,G|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000397495|protein_coding|2/7|c.41G>C|p.Ser14Thr|141/1778|41/1086|14/361||,G|downstream_gene_variant|MODIFIER|LL22NC03-86G7.1|ENSG00000224086|transcript|ENST00000458178|antisense||n.*3647C>G|||||2581| 22 22300436 . G T . . ANN=T|5_prime_UTR_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000263212|protein_coding|2/8|c.-16C>A|||||16|,T|5_prime_UTR_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000397495|protein_coding|2/7|c.-16C>A|||||16|,T|downstream_gene_variant|MODIFIER|LL22NC03-86G7.1|ENSG00000224086|transcript|ENST00000458178|antisense||n.*3647G>T|||||2637| 22 22313053 . G A . . ANN=A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|17/18|c.1918C>T|p.Arg640Cys|2103/2863|1918/2589|640/862||,A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|11/11|c.1300C>T|p.Arg434Cys|1302/2956|1300/1575|434/524||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|17/18|c.1918C>T|p.Arg640Cys|2353/3107|1918/2589|640/862||,A|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|17/18|n.*1754C>T|||||12375|,A|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|17/17|n.*1964C>T|||||12375|,A|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|10/10|n.*734C>T|||||4233|,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding||c.*1525C>T|||||841|,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000470338|retained_intron||n.*624C>T|||||3447|,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|17/18|n.*1754C>T||||||,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|17/17|n.*1964C>T||||||,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|10/10|n.*734C>T|||||| 22 22313069 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|16/17|c.1906-4G>A||||||,T|splice_region_variant&intron_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|10/10|c.1288-4G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|splice_region_variant&intron_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|16/17|n.*1742-4G>A||||||,T|splice_region_variant&intron_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|16/17|c.1906-4G>A||||||,T|splice_region_variant&intron_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|16/16|n.*1952-4G>A||||||,T|splice_region_variant&intron_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|9/9|n.*722-4G>A||||||,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding||c.*1525G>A|||||825|,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000470338|retained_intron||n.*624G>A|||||3431| 22 22313488 . T C . . ANN=C|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding||c.*1525A>G|||||406|,C|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000470338|retained_intron||n.*624A>G|||||3012|,C|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|16/17|c.1905+16A>G||||||,C|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|10/10|c.1287+16A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|16/17|n.*1741+16A>G||||||,C|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|16/17|c.1905+16A>G||||||,C|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|16/16|n.*1951+16A>G||||||,C|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|9/9|n.*721+16A>G|||||| 22 22313591 . C T . . ANN=T|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|16/18|c.1818G>A|p.Leu606Leu|2003/2863|1818/2589|606/862||,T|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|10/11|c.1200G>A|p.Leu400Leu|1202/2956|1200/1575|400/524||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|16/18|c.1818G>A|p.Leu606Leu|2253/3107|1818/2589|606/862||,T|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|16/18|n.*1654G>A|||||11837|,T|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|16/17|n.*1864G>A|||||11837|,T|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|9/10|n.*634G>A|||||3695|,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding||c.*1525G>A|||||303|,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000470338|retained_intron||n.*624G>A|||||2909|,T|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|16/18|n.*1654G>A||||||,T|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|16/17|n.*1864G>A||||||,T|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|9/10|n.*634G>A|||||| 22 22313598 . T C . . ANN=C|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|16/18|c.1811A>G|p.Asp604Gly|1996/2863|1811/2589|604/862||,C|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|10/11|c.1193A>G|p.Asp398Gly|1195/2956|1193/1575|398/524||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|16/18|c.1811A>G|p.Asp604Gly|2246/3107|1811/2589|604/862||,C|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|16/18|n.*1647A>G|||||11830|,C|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|16/17|n.*1857A>G|||||11830|,C|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|9/10|n.*627A>G|||||3688|,C|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding||c.*1525A>G|||||296|,C|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000470338|retained_intron||n.*624A>G|||||2902|,C|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|16/18|n.*1647A>G||||||,C|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|16/17|n.*1857A>G||||||,C|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|9/10|n.*627A>G|||||| 22 22314027 . C T . . ANN=T|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|15/18|c.1736G>A|p.Arg579His|1921/2863|1736/2589|579/862||,T|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|9/11|c.1118G>A|p.Arg373His|1120/2956|1118/1575|373/524||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|15/18|c.1736G>A|p.Arg579His|2171/3107|1736/2589|579/862||,T|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|15/18|n.*1572G>A|||||11401|,T|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|16/17|n.*1428G>A|||||11401|,T|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|8/10|n.*552G>A|||||3259|,T|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|13/13|c.*375G>A|||||2637|,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000470338|retained_intron||n.*624G>A|||||2473|,T|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|15/18|n.*1572G>A||||||,T|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|16/17|n.*1428G>A||||||,T|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|8/10|n.*552G>A|||||| 22 22314114 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|14/17|c.1655-6T>C||||||,G|splice_region_variant&intron_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|8/10|c.1037-6T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|splice_region_variant&intron_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|14/17|n.*1491-6T>C||||||,G|splice_region_variant&intron_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|14/17|c.1655-6T>C||||||,G|splice_region_variant&intron_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|15/16|n.*1347-6T>C||||||,G|splice_region_variant&intron_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|7/9|n.*471-6T>C||||||,G|splice_region_variant&intron_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|12/12|c.*294-6T>C||||||,G|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000470338|retained_intron||n.*624T>C|||||2386| 22 22314659 . C T . . ANN=T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000470338|retained_intron||n.*624G>A|||||1841|,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|14/17|c.1654+34G>A||||||,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|8/10|c.1036+34G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|14/17|n.*1490+34G>A||||||,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|14/17|c.1654+34G>A||||||,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|15/16|n.*1346+34G>A||||||,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|7/9|n.*470+34G>A||||||,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|12/12|c.*293+34G>A|||||| 22 22314754 . G A . . ANN=A|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|14/18|c.1593C>T|p.Ser531Ser|1778/2863|1593/2589|531/862||,A|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|8/11|c.975C>T|p.Ser325Ser|977/2956|975/1575|325/524||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|14/18|c.1593C>T|p.Ser531Ser|2028/3107|1593/2589|531/862||,A|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|14/18|n.*1429C>T|||||10674|,A|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|15/17|n.*1285C>T|||||10674|,A|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|7/10|n.*409C>T|||||2532|,A|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|12/13|c.*232C>T|||||1910|,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000470338|retained_intron||n.*624C>T|||||1746|,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|14/18|n.*1429C>T||||||,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|15/17|n.*1285C>T||||||,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|7/10|n.*409C>T|||||| 22 22314817 . C T . . ANN=T|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|14/18|c.1530G>A|p.Thr510Thr|1715/2863|1530/2589|510/862||,T|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|8/11|c.912G>A|p.Thr304Thr|914/2956|912/1575|304/524||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|14/18|c.1530G>A|p.Thr510Thr|1965/3107|1530/2589|510/862||,T|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|14/18|n.*1366G>A|||||10611|,T|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|15/17|n.*1222G>A|||||10611|,T|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|7/10|n.*346G>A|||||2469|,T|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|12/13|c.*169G>A|||||1847|,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000470338|retained_intron||n.*624G>A|||||1683|,T|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|14/18|n.*1366G>A||||||,T|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|15/17|n.*1222G>A||||||,T|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|7/10|n.*346G>A|||||| 22 22314828 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|13/17|c.1526-7A>G||||||,C|splice_region_variant&intron_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|7/10|c.908-7A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|splice_region_variant&intron_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|13/17|n.*1362-7A>G||||||,C|splice_region_variant&intron_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|13/17|c.1526-7A>G||||||,C|splice_region_variant&intron_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|14/16|n.*1218-7A>G||||||,C|splice_region_variant&intron_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|6/9|n.*342-7A>G||||||,C|splice_region_variant&intron_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|11/12|c.*165-7A>G||||||,C|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000470338|retained_intron||n.*624A>G|||||1672| 22 22314844 . G C . . ANN=C|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000470338|retained_intron||n.*624C>G|||||1656|,C|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|13/17|c.1526-23C>G||||||,C|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|7/10|c.908-23C>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|13/17|n.*1362-23C>G||||||,C|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|13/17|c.1526-23C>G||||||,C|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|14/16|n.*1218-23C>G||||||,C|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|6/9|n.*342-23C>G||||||,C|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|11/12|c.*165-23C>G|||||| 22 22314853 . CTGCCTTGGACA C . . ANN=|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000470338|retained_intron||n.*624_*624delTGTCCAAGGCA|||||1646|,|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|13/17|c.1526-43_1526-33delTGTCCAAGGCA||||||,|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|7/10|c.908-43_908-33delTGTCCAAGGCA||||||WARNING_TRANSCRIPT_NO_START_CODON,|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|13/17|n.*1362-43_*1362-33delTGTCCAAGGCA||||||,|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|13/17|c.1526-43_1526-33delTGTCCAAGGCA||||||,|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|14/16|n.*1218-43_*1218-33delTGTCCAAGGCA||||||,|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|6/9|n.*342-43_*342-33delTGTCCAAGGCA||||||,|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|11/12|c.*165-43_*165-33delTGTCCAAGGCA|||||| 22 22314868 . C T . . ANN=T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000470338|retained_intron||n.*624G>A|||||1632|,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|13/17|c.1526-47G>A||||||,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|7/10|c.908-47G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|13/17|n.*1362-47G>A||||||,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|13/17|c.1526-47G>A||||||,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|14/16|n.*1218-47G>A||||||,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|6/9|n.*342-47G>A||||||,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|11/12|c.*165-47G>A|||||| 22 22316765 . C T . . ANN=T|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|11/13|c.748G>A|p.Val250Ile|1424/2033|748/849|250/282||,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|13/17|c.1525+36G>A||||||,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|7/10|c.907+36G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|13/17|n.*1361+36G>A||||||,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|13/17|c.1525+36G>A||||||,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|14/16|n.*1217+36G>A||||||,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|6/9|n.*341+36G>A||||||,T|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000470338|retained_intron|2/2|n.359G>A|||||| 22 22316792 . C T . . ANN=T|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|11/13|c.721G>A|p.Ala241Thr|1397/2033|721/849|241/282||,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|13/17|c.1525+9G>A||||||,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|7/10|c.907+9G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|13/17|n.*1361+9G>A||||||,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|13/17|c.1525+9G>A||||||,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|14/16|n.*1217+9G>A||||||,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|6/9|n.*341+9G>A||||||,T|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000470338|retained_intron|2/2|n.332G>A|||||| 22 22316862 . C T . . ANN=T|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|13/18|c.1464G>A|p.Thr488Thr|1649/2863|1464/2589|488/862||,T|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|7/11|c.846G>A|p.Thr282Thr|848/2956|846/1575|282/524||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|13/18|c.1464G>A|p.Thr488Thr|1899/3107|1464/2589|488/862||,T|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|11/13|c.651G>A|p.Thr217Thr|1327/2033|651/849|217/282||,T|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|13/18|n.*1300G>A|||||8566|,T|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|14/17|n.*1156G>A|||||8566|,T|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|6/10|n.*280G>A|||||424|,T|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|13/18|n.*1300G>A||||||,T|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|14/17|n.*1156G>A||||||,T|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|6/10|n.*280G>A||||||,T|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000470338|retained_intron|2/2|n.262G>A|||||| 22 22316863 . G A . . ANN=A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|13/18|c.1463C>T|p.Thr488Met|1648/2863|1463/2589|488/862||,A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|7/11|c.845C>T|p.Thr282Met|847/2956|845/1575|282/524||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|13/18|c.1463C>T|p.Thr488Met|1898/3107|1463/2589|488/862||,A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|11/13|c.650C>T|p.Thr217Met|1326/2033|650/849|217/282||,A|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|13/18|n.*1299C>T|||||8565|,A|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|14/17|n.*1155C>T|||||8565|,A|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|6/10|n.*279C>T|||||423|,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|13/18|n.*1299C>T||||||,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|14/17|n.*1155C>T||||||,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|6/10|n.*279C>T||||||,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000470338|retained_intron|2/2|n.261C>T|||||| 22 22316989 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|13/18|n.*1173C>T|||||8439|,A|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|12/17|c.1352-15C>T||||||,A|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|6/10|c.734-15C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|12/17|c.1352-15C>T||||||,A|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|13/16|n.*1044-15C>T||||||,A|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|5/9|n.*168-15C>T||||||,A|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|10/12|c.539-15C>T||||||,A|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000470338|retained_intron|1/1|n.150-15C>T||||||,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|13/18|n.*1173C>T|||||| 22 22317008 . A G . . ANN=G|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|13/18|n.*1154T>C|||||8420|,G|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|12/17|c.1352-34T>C||||||,G|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|6/10|c.734-34T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|12/17|c.1352-34T>C||||||,G|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|13/16|n.*1044-34T>C||||||,G|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|5/9|n.*168-34T>C||||||,G|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|10/12|c.539-34T>C||||||,G|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000470338|retained_intron|1/1|n.150-34T>C||||||,G|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|13/18|n.*1154T>C|||||| 22 22317132 . G A . . ANN=A|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|12/18|c.1338C>T|p.Thr446Thr|1523/2863|1338/2589|446/862||,A|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|6/11|c.720C>T|p.Thr240Thr|722/2956|720/1575|240/524||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|12/18|c.1338C>T|p.Thr446Thr|1773/3107|1338/2589|446/862||,A|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|10/13|c.525C>T|p.Thr175Thr|1201/2033|525/849|175/282||,A|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|13/18|n.*1030C>T|||||8296|,A|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|13/17|n.*1030C>T|||||8296|,A|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|5/10|n.*154C>T|||||154|,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|13/18|n.*1030C>T||||||,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|13/17|n.*1030C>T||||||,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|5/10|n.*154C>T||||||,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000470338|retained_intron|1/2|n.136C>T|||||| 22 22317154 . A G . . ANN=G|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|12/18|c.1316T>C|p.Leu439Pro|1501/2863|1316/2589|439/862||,G|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|6/11|c.698T>C|p.Leu233Pro|700/2956|698/1575|233/524||WARNING_TRANSCRIPT_NO_START_CODON,G|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|12/18|c.1316T>C|p.Leu439Pro|1751/3107|1316/2589|439/862||,G|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|10/13|c.503T>C|p.Leu168Pro|1179/2033|503/849|168/282||,G|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|13/18|n.*1008T>C|||||8274|,G|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|13/17|n.*1008T>C|||||8274|,G|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|5/10|n.*132T>C|||||132|,G|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|13/18|n.*1008T>C||||||,G|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|13/17|n.*1008T>C||||||,G|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|5/10|n.*132T>C||||||,G|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000470338|retained_intron|1/2|n.114T>C|||||| 22 22317165 . A C . . ANN=C|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|12/18|c.1305T>G|p.Ile435Met|1490/2863|1305/2589|435/862||,C|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|6/11|c.687T>G|p.Ile229Met|689/2956|687/1575|229/524||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|12/18|c.1305T>G|p.Ile435Met|1740/3107|1305/2589|435/862||,C|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|10/13|c.492T>G|p.Ile164Met|1168/2033|492/849|164/282||,C|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|13/18|n.*997T>G|||||8263|,C|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|13/17|n.*997T>G|||||8263|,C|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|5/10|n.*121T>G|||||121|,C|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|13/18|n.*997T>G||||||,C|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|13/17|n.*997T>G||||||,C|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|5/10|n.*121T>G||||||,C|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000470338|retained_intron|1/2|n.103T>G|||||| 22 22317189 . C A . . ANN=A|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|12/18|c.1281G>T|p.Leu427Leu|1466/2863|1281/2589|427/862||,A|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|6/11|c.663G>T|p.Leu221Leu|665/2956|663/1575|221/524||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|12/18|c.1281G>T|p.Leu427Leu|1716/3107|1281/2589|427/862||,A|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|10/13|c.468G>T|p.Leu156Leu|1144/2033|468/849|156/282||,A|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|13/18|n.*973G>T|||||8239|,A|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|13/17|n.*973G>T|||||8239|,A|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|5/10|n.*97G>T|||||97|,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|13/18|n.*973G>T||||||,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|13/17|n.*973G>T||||||,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|5/10|n.*97G>T||||||,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000470338|retained_intron|1/2|n.79G>T|||||| 22 22317256 . G A . . ANN=A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|12/18|c.1214C>T|p.Ala405Val|1399/2863|1214/2589|405/862||,A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|6/11|c.596C>T|p.Ala199Val|598/2956|596/1575|199/524||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|12/18|c.1214C>T|p.Ala405Val|1649/3107|1214/2589|405/862||,A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|10/13|c.401C>T|p.Ala134Val|1077/2033|401/849|134/282||,A|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|13/18|n.*906C>T|||||8172|,A|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|13/17|n.*906C>T|||||8172|,A|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|5/10|n.*30C>T|||||30|,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|13/18|n.*906C>T||||||,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|13/17|n.*906C>T||||||,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|5/10|n.*30C>T||||||,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000470338|retained_intron|1/2|n.12C>T|||||| 22 22318278 . T C . . ANN=C|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000470338|retained_intron||n.-1A>G|||||1011|,C|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000424393|protein_coding||c.*824A>G|||||4713|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|11/17|c.1204+17A>G||||||,C|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|5/10|c.586+17A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|12/17|n.*896+17A>G||||||,C|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|11/17|c.1204+17A>G||||||,C|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|12/16|n.*896+17A>G||||||,C|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|4/9|n.400+17A>G||||||,C|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|9/12|c.391+17A>G|||||| 22 22318346 . C T . . ANN=T|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|11/18|c.1153G>A|p.Gly385Ser|1338/2863|1153/2589|385/862||,T|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|5/11|c.535G>A|p.Gly179Ser|537/2956|535/1575|179/524||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|11/18|c.1153G>A|p.Gly385Ser|1588/3107|1153/2589|385/862||,T|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|9/13|c.340G>A|p.Gly114Ser|1016/2033|340/849|114/282||,T|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|12/18|n.*845G>A|||||7082|,T|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|12/17|n.*845G>A|||||7082|,T|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000470338|retained_intron||n.-1G>A|||||1079|,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000424393|protein_coding||c.*824G>A|||||4645|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|12/18|n.*845G>A||||||,T|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|12/17|n.*845G>A||||||,T|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|4/10|n.349G>A|||||| 22 22318354 . T C . . ANN=C|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|11/18|c.1145A>G|p.His382Arg|1330/2863|1145/2589|382/862||,C|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|5/11|c.527A>G|p.His176Arg|529/2956|527/1575|176/524||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|11/18|c.1145A>G|p.His382Arg|1580/3107|1145/2589|382/862||,C|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|9/13|c.332A>G|p.His111Arg|1008/2033|332/849|111/282||,C|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|12/18|n.*837A>G|||||7074|,C|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|12/17|n.*837A>G|||||7074|,C|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000470338|retained_intron||n.-1A>G|||||1087|,C|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000424393|protein_coding||c.*824A>G|||||4637|WARNING_TRANSCRIPT_NO_STOP_CODON,C|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|12/18|n.*837A>G||||||,C|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|12/17|n.*837A>G||||||,C|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|4/10|n.341A>G|||||| 22 22318364 . G A . . ANN=A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|11/18|c.1135C>T|p.Arg379Trp|1320/2863|1135/2589|379/862||,A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|5/11|c.517C>T|p.Arg173Trp|519/2956|517/1575|173/524||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|11/18|c.1135C>T|p.Arg379Trp|1570/3107|1135/2589|379/862||,A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|9/13|c.322C>T|p.Arg108Trp|998/2033|322/849|108/282||,A|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|12/18|n.*827C>T|||||7064|,A|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|12/17|n.*827C>T|||||7064|,A|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000470338|retained_intron||n.-1C>T|||||1097|,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000424393|protein_coding||c.*824C>T|||||4627|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|12/18|n.*827C>T||||||,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|12/17|n.*827C>T||||||,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|4/10|n.331C>T|||||| 22 22318520 . C T . . ANN=T|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000470338|retained_intron||n.-1G>A|||||1253|,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000424393|protein_coding||c.*824G>A|||||4471|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|10/17|c.1098+13G>A||||||,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|4/10|c.480+13G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|11/17|n.*790+13G>A||||||,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|10/17|c.1098+13G>A||||||,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|11/16|n.*790+13G>A||||||,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|3/9|n.294+13G>A||||||,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|8/12|c.285+13G>A|||||| 22 22318538 . C T . . ANN=T|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|10/18|c.1093G>A|p.Asp365Asn|1278/2863|1093/2589|365/862||,T|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|4/11|c.475G>A|p.Asp159Asn|477/2956|475/1575|159/524||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|10/18|c.1093G>A|p.Asp365Asn|1528/3107|1093/2589|365/862||,T|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|8/13|c.280G>A|p.Asp94Asn|956/2033|280/849|94/282||,T|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|11/18|n.*785G>A|||||6890|,T|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|11/17|n.*785G>A|||||6890|,T|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000470338|retained_intron||n.-1G>A|||||1271|,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000424393|protein_coding||c.*824G>A|||||4453|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|11/18|n.*785G>A||||||,T|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|11/17|n.*785G>A||||||,T|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|3/10|n.289G>A|||||| 22 22318568 . G A . . ANN=A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|10/18|c.1063C>T|p.Arg355Trp|1248/2863|1063/2589|355/862||,A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|4/11|c.445C>T|p.Arg149Trp|447/2956|445/1575|149/524||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|10/18|c.1063C>T|p.Arg355Trp|1498/3107|1063/2589|355/862||,A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|8/13|c.250C>T|p.Arg84Trp|926/2033|250/849|84/282||,A|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|11/18|n.*755C>T|||||6860|,A|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|11/17|n.*755C>T|||||6860|,A|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000470338|retained_intron||n.-1C>T|||||1301|,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000424393|protein_coding||c.*824C>T|||||4423|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|11/18|n.*755C>T||||||,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|11/17|n.*755C>T||||||,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|3/10|n.259C>T|||||| 22 22318617 . C T . . ANN=T|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|10/18|c.1014G>A|p.Arg338Arg|1199/2863|1014/2589|338/862||,T|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|4/11|c.396G>A|p.Arg132Arg|398/2956|396/1575|132/524||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|10/18|c.1014G>A|p.Arg338Arg|1449/3107|1014/2589|338/862||,T|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|8/13|c.201G>A|p.Arg67Arg|877/2033|201/849|67/282||,T|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|11/18|n.*706G>A|||||6811|,T|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|11/17|n.*706G>A|||||6811|,T|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000470338|retained_intron||n.-1G>A|||||1350|,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000424393|protein_coding||c.*824G>A|||||4374|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|11/18|n.*706G>A||||||,T|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|11/17|n.*706G>A||||||,T|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|3/10|n.210G>A|||||| 22 22318660 . G A . . ANN=A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|10/18|c.971C>T|p.Thr324Met|1156/2863|971/2589|324/862||,A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|4/11|c.353C>T|p.Thr118Met|355/2956|353/1575|118/524||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|10/18|c.971C>T|p.Thr324Met|1406/3107|971/2589|324/862||,A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|8/13|c.158C>T|p.Thr53Met|834/2033|158/849|53/282||,A|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|11/18|n.*663C>T|||||6768|,A|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|11/17|n.*663C>T|||||6768|,A|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000470338|retained_intron||n.-1C>T|||||1393|,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000424393|protein_coding||c.*824C>T|||||4331|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|11/18|n.*663C>T||||||,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|11/17|n.*663C>T||||||,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|3/10|n.167C>T|||||| 22 22318671 . G A . . ANN=A|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|10/18|c.960C>T|p.His320His|1145/2863|960/2589|320/862||,A|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|4/11|c.342C>T|p.His114His|344/2956|342/1575|114/524||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|10/18|c.960C>T|p.His320His|1395/3107|960/2589|320/862||,A|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|8/13|c.147C>T|p.His49His|823/2033|147/849|49/282||,A|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|11/18|n.*652C>T|||||6757|,A|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|11/17|n.*652C>T|||||6757|,A|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000470338|retained_intron||n.-1C>T|||||1404|,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000424393|protein_coding||c.*824C>T|||||4320|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|11/18|n.*652C>T||||||,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|11/17|n.*652C>T||||||,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|3/10|n.156C>T|||||| 22 22319665 . G A . . ANN=A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|9/18|c.935C>T|p.Ser312Phe|1120/2863|935/2589|312/862||,A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|3/11|c.317C>T|p.Ser106Phe|319/2956|317/1575|106/524||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|9/18|c.935C>T|p.Ser312Phe|1370/3107|935/2589|312/862||,A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|7/13|c.122C>T|p.Ser41Phe|798/2033|122/849|41/282||,A|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|10/18|n.*627C>T|||||5763|,A|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|10/17|n.*627C>T|||||5763|,A|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000470338|retained_intron||n.-1C>T|||||2398|,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000424393|protein_coding||c.*824C>T|||||3326|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|10/18|n.*627C>T||||||,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|10/17|n.*627C>T||||||,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|2/10|n.131C>T|||||| 22 22319757 . AG A . . ANN=|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000470338|retained_intron||n.-1delC|||||2491|,|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000424393|protein_coding||c.*824delC|||||3233|WARNING_TRANSCRIPT_NO_STOP_CODON,|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000487485|retained_intron||n.*725delC|||||4949|,|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|8/17|c.853-11delC||||||,|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|2/10|c.235-11delC||||||WARNING_TRANSCRIPT_NO_START_CODON,|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|9/17|n.*545-11delC||||||,|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|8/17|c.853-11delC||||||,|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|9/16|n.*545-11delC||||||,|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|1/9|n.49-11delC||||||,|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|6/12|c.40-11delC|||||| 22 22322138 . G A . . ANN=A|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay||n.-1C>T|||||116|,A|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000470338|retained_intron||n.-1C>T|||||4871|,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000424393|protein_coding||c.*824C>T|||||853|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000487485|retained_intron||n.*725C>T|||||2569|,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000437929|protein_coding||c.*550C>T|||||4129|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000430142|protein_coding||c.*582C>T|||||4131|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000489581|retained_intron||n.*789C>T|||||4453|,A|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|7/17|c.739-50C>T||||||,A|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|1/10|c.121-50C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|8/17|n.*431-50C>T||||||,A|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|7/17|c.739-50C>T||||||,A|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|8/16|n.*431-50C>T||||||,A|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|5/12|c.-75-50C>T|||||| 22 22322985 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|7/17|c.738+6T>C||||||,G|splice_region_variant&intron_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|1/10|c.120+6T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|splice_region_variant&intron_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|8/17|n.*430+6T>C||||||,G|splice_region_variant&intron_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|7/17|c.738+6T>C||||||,G|splice_region_variant&intron_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|8/16|n.*430+6T>C||||||,G|splice_region_variant&intron_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|5/12|c.-76+6T>C||||||,G|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay||n.-1T>C|||||963|,G|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000424393|protein_coding||c.*824T>C|||||6|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000487485|retained_intron||n.*725T>C|||||1722|,G|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000437929|protein_coding||c.*550T>C|||||3282|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000430142|protein_coding||c.*582T>C|||||3284|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000489581|retained_intron||n.*789T>C|||||3606| 22 22323003 . C A . . ANN=A|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|7/18|c.726G>T|p.Val242Val|911/2863|726/2589|242/862||,A|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|1/11|c.108G>T|p.Val36Val|110/2956|108/1575|36/524||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|7/18|c.726G>T|p.Val242Val|1161/3107|726/2589|242/862||,A|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000424393|protein_coding|7/7|c.726G>T|p.Val242Val|812/824|726/738|242/245||WARNING_TRANSCRIPT_NO_STOP_CODON,A|5_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|5/13|c.-88G>T|||||990|,A|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|8/18|n.*418G>T|||||2425|,A|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|8/17|n.*418G>T|||||2425|,A|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay||n.-1G>T|||||981|,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000487485|retained_intron||n.*725G>T|||||1704|,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000437929|protein_coding||c.*550G>T|||||3264|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000430142|protein_coding||c.*582G>T|||||3266|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000489581|retained_intron||n.*789G>T|||||3588|,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|8/18|n.*418G>T||||||,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|8/17|n.*418G>T|||||| 22 22323019 . G A . . ANN=A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|7/18|c.710C>T|p.Pro237Leu|895/2863|710/2589|237/862||,A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|1/11|c.92C>T|p.Pro31Leu|94/2956|92/1575|31/524||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|7/18|c.710C>T|p.Pro237Leu|1145/3107|710/2589|237/862||,A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000424393|protein_coding|7/7|c.710C>T|p.Pro237Leu|796/824|710/738|237/245||WARNING_TRANSCRIPT_NO_STOP_CODON,A|5_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|5/13|c.-104C>T|||||1006|,A|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|8/18|n.*402C>T|||||2409|,A|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|8/17|n.*402C>T|||||2409|,A|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay||n.-1C>T|||||997|,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000487485|retained_intron||n.*725C>T|||||1688|,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000437929|protein_coding||c.*550C>T|||||3248|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000430142|protein_coding||c.*582C>T|||||3250|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000489581|retained_intron||n.*789C>T|||||3572|,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|8/18|n.*402C>T||||||,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|8/17|n.*402C>T|||||| 22 22323075 . C T . . ANN=T|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|7/18|c.654G>A|p.Gln218Gln|839/2863|654/2589|218/862||,T|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|1/11|c.36G>A|p.Gln12Gln|38/2956|36/1575|12/524||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|7/18|c.654G>A|p.Gln218Gln|1089/3107|654/2589|218/862||,T|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000424393|protein_coding|7/7|c.654G>A|p.Gln218Gln|740/824|654/738|218/245||WARNING_TRANSCRIPT_NO_STOP_CODON,T|5_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|5/13|c.-160G>A|||||1062|,T|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|8/18|n.*346G>A|||||2353|,T|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|8/17|n.*346G>A|||||2353|,T|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay||n.-1G>A|||||1053|,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000487485|retained_intron||n.*725G>A|||||1632|,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000437929|protein_coding||c.*550G>A|||||3192|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000430142|protein_coding||c.*582G>A|||||3194|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000489581|retained_intron||n.*789G>A|||||3516|,T|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|8/18|n.*346G>A||||||,T|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|8/17|n.*346G>A|||||| 22 22323117 . G A . . ANN=A|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|7/18|c.612C>T|p.Tyr204Tyr|797/2863|612/2589|204/862||,A|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|7/18|c.612C>T|p.Tyr204Tyr|1047/3107|612/2589|204/862||,A|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000424393|protein_coding|7/7|c.612C>T|p.Tyr204Tyr|698/824|612/738|204/245||WARNING_TRANSCRIPT_NO_STOP_CODON,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|5/13|c.-202C>T||||||,A|5_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|5/13|c.-202C>T|||||1104|,A|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|8/18|n.*304C>T|||||2311|,A|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|8/17|n.*304C>T|||||2311|,A|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding||c.-3C>T|||||5|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay||n.-1C>T|||||1095|,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000487485|retained_intron||n.*725C>T|||||1590|,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000437929|protein_coding||c.*550C>T|||||3150|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000430142|protein_coding||c.*582C>T|||||3152|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000489581|retained_intron||n.*789C>T|||||3474|,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|8/18|n.*304C>T||||||,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|8/17|n.*304C>T|||||| 22 22324542 . A AGTGAGG . . ANN=GTGAGG|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding||c.-3_-3dupCCTCAC|||||1431|WARNING_TRANSCRIPT_NO_START_CODON,GTGAGG|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay||n.-1_-1dupCCTCAC|||||2521|,GTGAGG|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000487485|retained_intron||n.*725_*725dupCCTCAC|||||164|,GTGAGG|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000437929|protein_coding||c.*550_*550dupCCTCAC|||||1724|WARNING_TRANSCRIPT_NO_STOP_CODON,GTGAGG|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000430142|protein_coding||c.*582_*582dupCCTCAC|||||1726|WARNING_TRANSCRIPT_INCOMPLETE,GTGAGG|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000489581|retained_intron||n.*789_*789dupCCTCAC|||||2048|,GTGAGG|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000456075|protein_coding||c.*561_*561dupCCTCAC|||||4205|WARNING_TRANSCRIPT_NO_STOP_CODON,GTGAGG|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000449704|protein_coding||c.*543_*543dupCCTCAC|||||4208|WARNING_TRANSCRIPT_NO_STOP_CODON,GTGAGG|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000442653|protein_coding||c.*400_*400dupCCTCAC|||||4248|WARNING_TRANSCRIPT_INCOMPLETE,GTGAGG|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000437103|protein_coding||c.*571_*571dupCCTCAC|||||4262|WARNING_TRANSCRIPT_NO_STOP_CODON,GTGAGG|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|6/17|c.581+34_581+39dupCCTCAC||||||,GTGAGG|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|7/17|n.*273+34_*273+39dupCCTCAC||||||,GTGAGG|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|6/17|c.581+34_581+39dupCCTCAC||||||,GTGAGG|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|7/16|n.*273+34_*273+39dupCCTCAC||||||,GTGAGG|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|4/12|c.-232-1401_-232-1396dupCCTCAC||||||,GTGAGG|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000424393|protein_coding|6/6|c.581+34_581+39dupCCTCAC||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 22324544 . T TGAGGGG . . ANN=GAGGGG|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding||c.-3_-3insCCCCTC|||||1433|WARNING_TRANSCRIPT_NO_START_CODON,GAGGGG|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay||n.-1_-1insCCCCTC|||||2523|,GAGGGG|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000487485|retained_intron||n.*725_*725insCCCCTC|||||162|,GAGGGG|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000437929|protein_coding||c.*550_*550insCCCCTC|||||1722|WARNING_TRANSCRIPT_NO_STOP_CODON,GAGGGG|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000430142|protein_coding||c.*582_*582insCCCCTC|||||1724|WARNING_TRANSCRIPT_INCOMPLETE,GAGGGG|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000489581|retained_intron||n.*789_*789insCCCCTC|||||2046|,GAGGGG|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000456075|protein_coding||c.*561_*561insCCCCTC|||||4203|WARNING_TRANSCRIPT_NO_STOP_CODON,GAGGGG|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000449704|protein_coding||c.*543_*543insCCCCTC|||||4206|WARNING_TRANSCRIPT_NO_STOP_CODON,GAGGGG|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000442653|protein_coding||c.*400_*400insCCCCTC|||||4246|WARNING_TRANSCRIPT_INCOMPLETE,GAGGGG|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000437103|protein_coding||c.*571_*571insCCCCTC|||||4260|WARNING_TRANSCRIPT_NO_STOP_CODON,GAGGGG|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|6/17|c.581+37_581+38insCCCCTC||||||,GAGGGG|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|7/17|n.*273+37_*273+38insCCCCTC||||||,GAGGGG|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|6/17|c.581+37_581+38insCCCCTC||||||,GAGGGG|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|7/16|n.*273+37_*273+38insCCCCTC||||||,GAGGGG|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|4/12|c.-232-1398_-232-1397insCCCCTC||||||,GAGGGG|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000424393|protein_coding|6/6|c.581+37_581+38insCCCCTC||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 22324549 . G A . . ANN=A|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding||c.-3C>T|||||1437|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay||n.-1C>T|||||2527|,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000487485|retained_intron||n.*725C>T|||||158|,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000437929|protein_coding||c.*550C>T|||||1718|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000430142|protein_coding||c.*582C>T|||||1720|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000489581|retained_intron||n.*789C>T|||||2042|,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000456075|protein_coding||c.*561C>T|||||4199|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000449704|protein_coding||c.*543C>T|||||4202|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000442653|protein_coding||c.*400C>T|||||4242|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000437103|protein_coding||c.*571C>T|||||4256|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|6/17|c.581+33C>T||||||,A|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|7/17|n.*273+33C>T||||||,A|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|6/17|c.581+33C>T||||||,A|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|7/16|n.*273+33C>T||||||,A|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|4/12|c.-232-1402C>T||||||,A|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000424393|protein_coding|6/6|c.581+33C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 22324550 . T TGAGGGG . . ANN=GAGGGG|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding||c.-3_-3insCCCCTC|||||1439|WARNING_TRANSCRIPT_NO_START_CODON,GAGGGG|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay||n.-1_-1insCCCCTC|||||2529|,GAGGGG|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000487485|retained_intron||n.*725_*725insCCCCTC|||||156|,GAGGGG|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000437929|protein_coding||c.*550_*550insCCCCTC|||||1716|WARNING_TRANSCRIPT_NO_STOP_CODON,GAGGGG|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000430142|protein_coding||c.*582_*582insCCCCTC|||||1718|WARNING_TRANSCRIPT_INCOMPLETE,GAGGGG|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000489581|retained_intron||n.*789_*789insCCCCTC|||||2040|,GAGGGG|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000456075|protein_coding||c.*561_*561insCCCCTC|||||4197|WARNING_TRANSCRIPT_NO_STOP_CODON,GAGGGG|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000449704|protein_coding||c.*543_*543insCCCCTC|||||4200|WARNING_TRANSCRIPT_NO_STOP_CODON,GAGGGG|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000442653|protein_coding||c.*400_*400insCCCCTC|||||4240|WARNING_TRANSCRIPT_INCOMPLETE,GAGGGG|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000437103|protein_coding||c.*571_*571insCCCCTC|||||4254|WARNING_TRANSCRIPT_NO_STOP_CODON,GAGGGG|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|6/17|c.581+31_581+32insCCCCTC||||||,GAGGGG|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|7/17|n.*273+31_*273+32insCCCCTC||||||,GAGGGG|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|6/17|c.581+31_581+32insCCCCTC||||||,GAGGGG|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|7/16|n.*273+31_*273+32insCCCCTC||||||,GAGGGG|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|4/12|c.-232-1404_-232-1403insCCCCTC||||||,GAGGGG|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000424393|protein_coding|6/6|c.581+31_581+32insCCCCTC||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 22324605 . C T . . ANN=T|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|6/18|c.558G>A|p.Leu186Leu|743/2863|558/2589|186/862||,T|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|6/18|c.558G>A|p.Leu186Leu|993/3107|558/2589|186/862||,T|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000424393|protein_coding|6/7|c.558G>A|p.Leu186Leu|644/824|558/738|186/245||WARNING_TRANSCRIPT_NO_STOP_CODON,T|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|7/18|n.*250G>A|||||823|,T|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|7/17|n.*250G>A|||||823|,T|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding||c.-3G>A|||||1493|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay||n.-1G>A|||||2583|,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000487485|retained_intron||n.*725G>A|||||102|,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000437929|protein_coding||c.*550G>A|||||1662|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000430142|protein_coding||c.*582G>A|||||1664|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000489581|retained_intron||n.*789G>A|||||1986|,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000456075|protein_coding||c.*561G>A|||||4143|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000449704|protein_coding||c.*543G>A|||||4146|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000442653|protein_coding||c.*400G>A|||||4186|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000437103|protein_coding||c.*571G>A|||||4200|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|4/12|c.-232-1458G>A||||||,T|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|7/18|n.*250G>A||||||,T|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|7/17|n.*250G>A|||||| 22 22324698 . G A . . ANN=A|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|6/18|c.465C>T|p.Ile155Ile|650/2863|465/2589|155/862||,A|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|6/18|c.465C>T|p.Ile155Ile|900/3107|465/2589|155/862||,A|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000424393|protein_coding|6/7|c.465C>T|p.Ile155Ile|551/824|465/738|155/245||WARNING_TRANSCRIPT_NO_STOP_CODON,A|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|7/18|n.*157C>T|||||730|,A|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|7/17|n.*157C>T|||||730|,A|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding||c.-3C>T|||||1586|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay||n.-1C>T|||||2676|,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000487485|retained_intron||n.*725C>T|||||9|,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000437929|protein_coding||c.*550C>T|||||1569|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000430142|protein_coding||c.*582C>T|||||1571|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000489581|retained_intron||n.*789C>T|||||1893|,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000456075|protein_coding||c.*561C>T|||||4050|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000449704|protein_coding||c.*543C>T|||||4053|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000442653|protein_coding||c.*400C>T|||||4093|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000437103|protein_coding||c.*571C>T|||||4107|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|4/12|c.-232-1551C>T||||||,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|7/18|n.*157C>T||||||,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|7/17|n.*157C>T|||||| 22 22324717 . C T . . ANN=T|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|6/18|c.446G>A|p.Arg149Gln|631/2863|446/2589|149/862||,T|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|6/18|c.446G>A|p.Arg149Gln|881/3107|446/2589|149/862||,T|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000424393|protein_coding|6/7|c.446G>A|p.Arg149Gln|532/824|446/738|149/245||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|6/18|c.446G>A||||||,T|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|4/18|c.446G>A||||||,T|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|3/18|c.446G>A||||||,T|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|5/18|c.446G>A||||||,T|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|2/18|c.446G>A||||||,T|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|7/18|n.*138G>A|||||711|,T|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|7/17|n.*138G>A|||||711|,T|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding||c.-3G>A|||||1605|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay||n.-1G>A|||||2695|,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000437929|protein_coding||c.*550G>A|||||1550|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000430142|protein_coding||c.*582G>A|||||1552|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000489581|retained_intron||n.*789G>A|||||1874|,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000456075|protein_coding||c.*561G>A|||||4031|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000449704|protein_coding||c.*543G>A|||||4034|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000442653|protein_coding||c.*400G>A|||||4074|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000437103|protein_coding||c.*571G>A|||||4088|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|4/12|c.-232-1570G>A||||||,T|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|7/18|n.*138G>A||||||,T|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|7/17|n.*138G>A||||||,T|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000487485|retained_intron|2/2|n.715G>A|||||| 22 22324761 . C T . . ANN=T|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|6/18|c.402G>A|p.Leu134Leu|587/2863|402/2589|134/862||,T|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|6/18|c.402G>A|p.Leu134Leu|837/3107|402/2589|134/862||,T|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000424393|protein_coding|6/7|c.402G>A|p.Leu134Leu|488/824|402/738|134/245||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|6/18|c.402G>A||||||,T|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|4/18|c.402G>A||||||,T|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|3/18|c.402G>A||||||,T|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|5/18|c.402G>A||||||,T|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|2/18|c.402G>A||||||,T|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|7/18|n.*94G>A|||||667|,T|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|7/17|n.*94G>A|||||667|,T|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding||c.-3G>A|||||1649|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay||n.-1G>A|||||2739|,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000437929|protein_coding||c.*550G>A|||||1506|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000430142|protein_coding||c.*582G>A|||||1508|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000489581|retained_intron||n.*789G>A|||||1830|,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000456075|protein_coding||c.*561G>A|||||3987|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000449704|protein_coding||c.*543G>A|||||3990|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000442653|protein_coding||c.*400G>A|||||4030|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000437103|protein_coding||c.*571G>A|||||4044|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|4/12|c.-232-1614G>A||||||,T|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|7/18|n.*94G>A||||||,T|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|7/17|n.*94G>A||||||,T|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000487485|retained_intron|2/2|n.671G>A|||||| 22 22324825 . C T . . ANN=T|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|6/18|c.385-47G>A||||||,T|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|4/18|c.385-47G>A||||||,T|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|3/18|c.385-47G>A||||||,T|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|5/18|c.385-47G>A||||||,T|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|2/18|c.385-47G>A||||||,T|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding||c.-3G>A|||||1713|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay||n.-1G>A|||||2803|,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000437929|protein_coding||c.*550G>A|||||1442|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000430142|protein_coding||c.*582G>A|||||1444|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000489581|retained_intron||n.*789G>A|||||1766|,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000456075|protein_coding||c.*561G>A|||||3923|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000449704|protein_coding||c.*543G>A|||||3926|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000442653|protein_coding||c.*400G>A|||||3966|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000437103|protein_coding||c.*571G>A|||||3980|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|5/17|c.385-47G>A||||||,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|6/17|n.*77-47G>A||||||,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|5/17|c.385-47G>A||||||,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|6/16|n.*77-47G>A||||||,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|4/12|c.-232-1678G>A||||||,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000424393|protein_coding|5/6|c.385-47G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000487485|retained_intron|1/1|n.654-47G>A|||||| 22 22326241 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|5/17|c.384+8T>C||||||,G|splice_region_variant&intron_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|5/17|n.384+8T>C||||||,G|splice_region_variant&intron_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|5/17|c.384+8T>C||||||,G|splice_region_variant&intron_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|5/16|n.384+8T>C||||||,G|splice_region_variant&intron_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000424393|protein_coding|5/6|c.384+8T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|6/18|c.384+8T>C||||||,G|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|4/18|c.384+8T>C||||||,G|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|3/18|c.384+8T>C||||||,G|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|5/18|c.384+8T>C||||||,G|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|2/18|c.384+8T>C||||||,G|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding||c.-3T>C|||||3129|WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay||n.-1T>C|||||4219|,G|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000487485|retained_intron||n.-1T>C|||||237|,G|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000437929|protein_coding||c.*550T>C|||||26|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000430142|protein_coding||c.*582T>C|||||28|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000489581|retained_intron||n.*789T>C|||||350|,G|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000456075|protein_coding||c.*561T>C|||||2507|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000449704|protein_coding||c.*543T>C|||||2510|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000442653|protein_coding||c.*400T>C|||||2550|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000437103|protein_coding||c.*571T>C|||||2564|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000434517|protein_coding||c.*736T>C|||||3777|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|4/12|c.-233+743T>C|||||| 22 22326279 . G A . . ANN=A|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|5/18|c.354C>T|p.Cys118Cys|539/2863|354/2589|118/862||,A|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|5/18|c.354C>T|p.Cys118Cys|789/3107|354/2589|118/862||,A|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000424393|protein_coding|5/7|c.354C>T|p.Cys118Cys|440/824|354/738|118/245||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000437929|protein_coding|6/6|c.354C>T|p.Cys118Cys|538/550|354/366|118/121||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000430142|protein_coding|6/6|c.354C>T|p.Cys118Cys|572/582|354/364|118/120||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|6/18|c.354C>T||||||,A|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|4/18|c.354C>T||||||,A|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|3/18|c.354C>T||||||,A|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|5/18|c.354C>T||||||,A|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|2/18|c.354C>T||||||,A|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding||c.-3C>T|||||3167|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay||n.-1C>T|||||4257|,A|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000487485|retained_intron||n.-1C>T|||||275|,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000489581|retained_intron||n.*789C>T|||||312|,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000456075|protein_coding||c.*561C>T|||||2469|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000449704|protein_coding||c.*543C>T|||||2472|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000442653|protein_coding||c.*400C>T|||||2512|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000437103|protein_coding||c.*571C>T|||||2526|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000434517|protein_coding||c.*736C>T|||||3739|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|4/12|c.-233+705C>T||||||,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|5/18|n.354C>T||||||,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|5/17|n.354C>T|||||| 22 22326300 . G A . . ANN=A|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|5/18|c.333C>T|p.Tyr111Tyr|518/2863|333/2589|111/862||,A|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|5/18|c.333C>T|p.Tyr111Tyr|768/3107|333/2589|111/862||,A|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000424393|protein_coding|5/7|c.333C>T|p.Tyr111Tyr|419/824|333/738|111/245||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000437929|protein_coding|6/6|c.333C>T|p.Tyr111Tyr|517/550|333/366|111/121||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000430142|protein_coding|6/6|c.333C>T|p.Tyr111Tyr|551/582|333/364|111/120||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|6/18|c.333C>T||||||,A|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|4/18|c.333C>T||||||,A|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|3/18|c.333C>T||||||,A|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|5/18|c.333C>T||||||,A|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|2/18|c.333C>T||||||,A|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding||c.-3C>T|||||3188|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay||n.-1C>T|||||4278|,A|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000487485|retained_intron||n.-1C>T|||||296|,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000489581|retained_intron||n.*789C>T|||||291|,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000456075|protein_coding||c.*561C>T|||||2448|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000449704|protein_coding||c.*543C>T|||||2451|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000442653|protein_coding||c.*400C>T|||||2491|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000437103|protein_coding||c.*571C>T|||||2505|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000434517|protein_coding||c.*736C>T|||||3718|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|4/12|c.-233+684C>T||||||,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|5/18|n.333C>T||||||,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|5/17|n.333C>T|||||| 22 22326303 . G A . . ANN=A|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|5/18|c.330C>T|p.Asp110Asp|515/2863|330/2589|110/862||,A|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|5/18|c.330C>T|p.Asp110Asp|765/3107|330/2589|110/862||,A|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000424393|protein_coding|5/7|c.330C>T|p.Asp110Asp|416/824|330/738|110/245||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000437929|protein_coding|6/6|c.330C>T|p.Asp110Asp|514/550|330/366|110/121||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000430142|protein_coding|6/6|c.330C>T|p.Asp110Asp|548/582|330/364|110/120||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|6/18|c.330C>T||||||,A|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|4/18|c.330C>T||||||,A|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|3/18|c.330C>T||||||,A|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|5/18|c.330C>T||||||,A|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|2/18|c.330C>T||||||,A|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding||c.-3C>T|||||3191|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay||n.-1C>T|||||4281|,A|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000487485|retained_intron||n.-1C>T|||||299|,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000489581|retained_intron||n.*789C>T|||||288|,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000456075|protein_coding||c.*561C>T|||||2445|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000449704|protein_coding||c.*543C>T|||||2448|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000442653|protein_coding||c.*400C>T|||||2488|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000437103|protein_coding||c.*571C>T|||||2502|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000434517|protein_coding||c.*736C>T|||||3715|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|4/12|c.-233+681C>T||||||,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|5/18|n.330C>T||||||,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|5/17|n.330C>T|||||| 22 22326326 . GC G . . ANN=|splice_region_variant&intron_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|4/17|c.310-4delG||||||,|splice_region_variant&intron_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|4/17|n.310-4delG||||||,|splice_region_variant&intron_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|4/17|c.310-4delG||||||,|splice_region_variant&intron_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|4/16|n.310-4delG||||||,|splice_region_variant&intron_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000424393|protein_coding|4/6|c.310-4delG||||||WARNING_TRANSCRIPT_NO_STOP_CODON,|splice_region_variant&intron_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000437929|protein_coding|5/5|c.310-4delG||||||WARNING_TRANSCRIPT_NO_STOP_CODON,|splice_region_variant&intron_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000430142|protein_coding|5/5|c.310-4delG||||||WARNING_TRANSCRIPT_INCOMPLETE,|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|6/18|c.310-4delG||||||,|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|4/18|c.310-4delG||||||,|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|3/18|c.310-4delG||||||,|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|5/18|c.310-4delG||||||,|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|2/18|c.310-4delG||||||,|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding||c.-3delG|||||3215|WARNING_TRANSCRIPT_NO_START_CODON,|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay||n.-1delG|||||4305|,|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000487485|retained_intron||n.-1delG|||||323|,|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000489581|retained_intron||n.*789delG|||||264|,|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000456075|protein_coding||c.*561delG|||||2421|WARNING_TRANSCRIPT_NO_STOP_CODON,|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000449704|protein_coding||c.*543delG|||||2424|WARNING_TRANSCRIPT_NO_STOP_CODON,|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000442653|protein_coding||c.*400delG|||||2464|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000437103|protein_coding||c.*571delG|||||2478|WARNING_TRANSCRIPT_NO_STOP_CODON,|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000434517|protein_coding||c.*736delG|||||3691|WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|4/12|c.-233+657delG|||||| 22 22327135 . C T . . ANN=T|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|6/18|c.203-45G>A||||||,T|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|4/18|c.203-45G>A||||||,T|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|3/18|c.203-45G>A||||||,T|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|5/18|c.203-45G>A||||||,T|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|2/18|c.203-45G>A||||||,T|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding||c.-3G>A|||||4023|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000487485|retained_intron||n.-1G>A|||||1131|,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000456075|protein_coding||c.*561G>A|||||1613|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000449704|protein_coding||c.*543G>A|||||1616|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000442653|protein_coding||c.*400G>A|||||1656|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000437103|protein_coding||c.*571G>A|||||1670|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000434517|protein_coding||c.*736G>A|||||2883|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|3/17|c.203-45G>A||||||,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|3/17|n.203-45G>A||||||,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|3/17|c.203-45G>A||||||,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|3/16|n.203-45G>A||||||,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|3/12|c.-339-45G>A||||||,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000424393|protein_coding|3/6|c.203-45G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000437929|protein_coding|4/5|c.203-45G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000430142|protein_coding|4/5|c.203-45G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000489581|retained_intron|2/2|n.290-45G>A|||||| 22 22328829 . C T . . ANN=T|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|3/18|c.102G>A|p.Gly34Gly|287/2863|102/2589|34/862||,T|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|3/18|c.102G>A|p.Gly34Gly|537/3107|102/2589|34/862||,T|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000424393|protein_coding|3/7|c.102G>A|p.Gly34Gly|188/824|102/738|34/245||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000437929|protein_coding|4/6|c.102G>A|p.Gly34Gly|286/550|102/366|34/121||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000430142|protein_coding|4/6|c.102G>A|p.Gly34Gly|320/582|102/364|34/120||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000456075|protein_coding|5/5|c.102G>A|p.Gly34Gly|480/561|102/183|34/60||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000449704|protein_coding|4/4|c.102G>A|p.Gly34Gly|465/543|102/180|34/59||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000442653|protein_coding|2/2|c.102G>A|p.Gly34Gly|362/400|102/140|34/45||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|TOP3B|ENSG00000100038|transcript|ENST00000437103|protein_coding|4/4|c.102G>A|p.Gly34Gly|547/571|102/126|34/41||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|6/18|c.102G>A||||||,T|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|4/18|c.102G>A||||||,T|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|3/18|c.102G>A||||||,T|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|5/18|c.102G>A||||||,T|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|2/18|c.102G>A||||||,T|5_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|3/13|c.-440G>A|||||6816|,T|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000487485|retained_intron||n.-1G>A|||||2825|,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000434517|protein_coding||c.*736G>A|||||1189|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|3/18|n.102G>A||||||,T|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|3/17|n.102G>A||||||,T|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000489581|retained_intron|2/3|n.189G>A|||||| 22 22329983 . C T . . ANN=T|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|6/18|c.70+29G>A||||||,T|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|4/18|c.70+29G>A||||||,T|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|3/18|c.70+29G>A||||||,T|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|5/18|c.70+29G>A||||||,T|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|2/18|c.70+29G>A||||||,T|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000487485|retained_intron||n.-1G>A|||||3979|,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000434517|protein_coding||c.*736G>A|||||35|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|2/17|c.70+29G>A||||||,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|2/17|n.70+29G>A||||||,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|2/17|c.70+29G>A||||||,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|2/16|n.70+29G>A||||||,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|2/12|c.-472+29G>A||||||,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000424393|protein_coding|2/6|c.70+29G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000437929|protein_coding|3/5|c.70+29G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000430142|protein_coding|3/5|c.70+29G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000489581|retained_intron|1/2|n.157+29G>A||||||,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000456075|protein_coding|4/4|c.70+29G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000449704|protein_coding|3/3|c.70+29G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000442653|protein_coding|1/1|c.70+29G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000437103|protein_coding|3/3|c.70+29G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 22330000 . G A . . ANN=A|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|6/18|c.70+12C>T||||||,A|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|4/18|c.70+12C>T||||||,A|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|3/18|c.70+12C>T||||||,A|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|5/18|c.70+12C>T||||||,A|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|2/18|c.70+12C>T||||||,A|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000487485|retained_intron||n.-1C>T|||||3996|,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000434517|protein_coding||c.*736C>T|||||18|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|2/17|c.70+12C>T||||||,A|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|2/17|n.70+12C>T||||||,A|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|2/17|c.70+12C>T||||||,A|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|2/16|n.70+12C>T||||||,A|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|2/12|c.-472+12C>T||||||,A|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000424393|protein_coding|2/6|c.70+12C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000437929|protein_coding|3/5|c.70+12C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000430142|protein_coding|3/5|c.70+12C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000489581|retained_intron|1/2|n.157+12C>T||||||,A|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000456075|protein_coding|4/4|c.70+12C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000449704|protein_coding|3/3|c.70+12C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000442653|protein_coding|1/1|c.70+12C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000437103|protein_coding|3/3|c.70+12C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 22330082 . T C . . ANN=C|5_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|2/18|c.-1A>G|||||1|,C|5_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|2/18|n.-1A>G|||||1|,C|5_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|2/18|c.-1A>G|||||1|,C|5_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|2/17|n.-1A>G|||||1|,C|5_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|2/13|c.-542A>G|||||8069|,C|5_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000424393|protein_coding|2/7|c.-1A>G|||||1|WARNING_TRANSCRIPT_NO_STOP_CODON,C|5_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000437929|protein_coding|3/6|c.-1A>G|||||1|WARNING_TRANSCRIPT_NO_STOP_CODON,C|5_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000430142|protein_coding|3/6|c.-1A>G|||||1|WARNING_TRANSCRIPT_INCOMPLETE,C|5_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000456075|protein_coding|4/5|c.-1A>G|||||1|WARNING_TRANSCRIPT_NO_STOP_CODON,C|5_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000449704|protein_coding|3/4|c.-1A>G|||||1|WARNING_TRANSCRIPT_NO_STOP_CODON,C|5_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000442653|protein_coding|1/2|c.-1A>G|||||1|WARNING_TRANSCRIPT_INCOMPLETE,C|5_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000437103|protein_coding|3/4|c.-1A>G|||||1|WARNING_TRANSCRIPT_NO_STOP_CODON,C|5_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000434517|protein_coding|2/2|c.-1A>G|||||1|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000487485|retained_intron||n.-1A>G|||||4078|,C|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|2/18|n.-1A>G||||||,C|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|2/17|n.-1A>G||||||,C|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000489581|retained_intron|1/3|n.87A>G|||||| 22 22330107 . T G . . ANN=G|5_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|2/18|c.-26A>C|||||26|,G|5_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|2/18|n.-26A>C|||||26|,G|5_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|2/18|c.-26A>C|||||26|,G|5_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|2/17|n.-26A>C|||||26|,G|5_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|2/13|c.-567A>C|||||8094|,G|5_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000424393|protein_coding|2/7|c.-26A>C|||||26|WARNING_TRANSCRIPT_NO_STOP_CODON,G|5_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000437929|protein_coding|3/6|c.-26A>C|||||26|WARNING_TRANSCRIPT_NO_STOP_CODON,G|5_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000430142|protein_coding|3/6|c.-26A>C|||||26|WARNING_TRANSCRIPT_INCOMPLETE,G|5_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000456075|protein_coding|4/5|c.-26A>C|||||26|WARNING_TRANSCRIPT_NO_STOP_CODON,G|5_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000449704|protein_coding|3/4|c.-26A>C|||||26|WARNING_TRANSCRIPT_NO_STOP_CODON,G|5_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000442653|protein_coding|1/2|c.-26A>C|||||26|WARNING_TRANSCRIPT_INCOMPLETE,G|5_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000437103|protein_coding|3/4|c.-26A>C|||||26|WARNING_TRANSCRIPT_NO_STOP_CODON,G|5_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000434517|protein_coding|2/2|c.-26A>C|||||26|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000487485|retained_intron||n.-1A>C|||||4103|,G|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|2/18|n.-26A>C||||||,G|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|2/17|n.-26A>C||||||,G|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000489581|retained_intron|1/3|n.62A>C|||||| 22 22599189 . C T . . ANN=T|5_prime_UTR_premature_start_codon_gain_variant|LOW|VPREB1|ENSG00000169575|transcript|ENST00000403807|protein_coding|1/2|c.-37C>T||||||,T|5_prime_UTR_variant|MODIFIER|VPREB1|ENSG00000169575|transcript|ENST00000403807|protein_coding|1/2|c.-37C>T|||||37|,T|upstream_gene_variant|MODIFIER|VPREB1|ENSG00000169575|transcript|ENST00000302273|protein_coding||c.-24C>T|||||3| 22 22599215 . A G . . ANN=G|start_lost|HIGH|VPREB1|ENSG00000169575|transcript|ENST00000302273|protein_coding|1/2|c.1A>G|p.Met1?|24/626|1/435|1/144||,G|5_prime_UTR_variant|MODIFIER|VPREB1|ENSG00000169575|transcript|ENST00000403807|protein_coding|1/2|c.-11A>G|||||11|;LOF=(VPREB1|ENSG00000169575|2|0.50) 22 22599216 . T C . . ANN=C|start_lost|HIGH|VPREB1|ENSG00000169575|transcript|ENST00000302273|protein_coding|1/2|c.2T>C|p.Met1?|25/626|2/435|1/144||,C|5_prime_UTR_variant|MODIFIER|VPREB1|ENSG00000169575|transcript|ENST00000403807|protein_coding|1/2|c.-10T>C|||||10|;LOF=(VPREB1|ENSG00000169575|2|0.50) 22 22599294 . A C . . ANN=C|sequence_feature|LOW|VPREB1|ENSG00000169575|signal_peptide|ENST00000403807|protein_coding|2/2|c.46+23A>C||||||,C|sequence_feature|LOW|VPREB1|ENSG00000169575|signal_peptide|ENST00000403807|protein_coding|1/2|c.46+23A>C||||||,C|intron_variant|MODIFIER|VPREB1|ENSG00000169575|transcript|ENST00000403807|protein_coding|1/1|c.46+23A>C||||||,C|intron_variant|MODIFIER|VPREB1|ENSG00000169575|transcript|ENST00000302273|protein_coding|1/1|c.57+23A>C|||||| 22 22599380 . G A . . ANN=A|synonymous_variant|LOW|VPREB1|ENSG00000169575|transcript|ENST00000403807|protein_coding|2/2|c.69G>A|p.Leu23Leu|208/755|69/438|23/145||,A|synonymous_variant|LOW|VPREB1|ENSG00000169575|transcript|ENST00000302273|protein_coding|2/2|c.66G>A|p.Leu22Leu|89/626|66/435|22/144||,A|sequence_feature|LOW|VPREB1|ENSG00000169575|region_of_interest:Framework-1|ENST00000403807|protein_coding|2/2|c.69G>A||||||,A|sequence_feature|LOW|VPREB1|ENSG00000169575|domain:Ig-like_V-type|ENST00000403807|protein_coding|2/2|c.69G>A||||||,A|sequence_feature|LOW|VPREB1|ENSG00000169575|beta_strand|ENST00000403807|protein_coding|2/2|c.69G>A|||||| 22 22599404 . G A . . ANN=A|synonymous_variant|LOW|VPREB1|ENSG00000169575|transcript|ENST00000403807|protein_coding|2/2|c.93G>A|p.Ser31Ser|232/755|93/438|31/145||,A|synonymous_variant|LOW|VPREB1|ENSG00000169575|transcript|ENST00000302273|protein_coding|2/2|c.90G>A|p.Ser30Ser|113/626|90/435|30/144||,A|sequence_feature|LOW|VPREB1|ENSG00000169575|region_of_interest:Framework-1|ENST00000403807|protein_coding|2/2|c.93G>A||||||,A|sequence_feature|LOW|VPREB1|ENSG00000169575|domain:Ig-like_V-type|ENST00000403807|protein_coding|2/2|c.93G>A||||||,A|sequence_feature|LOW|VPREB1|ENSG00000169575|beta_strand|ENST00000403807|protein_coding|2/2|c.93G>A|||||| 22 22599424 . G A . . ANN=A|missense_variant|MODERATE|VPREB1|ENSG00000169575|transcript|ENST00000403807|protein_coding|2/2|c.113G>A|p.Arg38His|252/755|113/438|38/145||,A|missense_variant|MODERATE|VPREB1|ENSG00000169575|transcript|ENST00000302273|protein_coding|2/2|c.110G>A|p.Arg37His|133/626|110/435|37/144||,A|sequence_feature|LOW|VPREB1|ENSG00000169575|region_of_interest:Framework-1|ENST00000403807|protein_coding|2/2|c.113G>A||||||,A|sequence_feature|LOW|VPREB1|ENSG00000169575|domain:Ig-like_V-type|ENST00000403807|protein_coding|2/2|c.113G>A||||||,A|sequence_feature|LOW|VPREB1|ENSG00000169575|beta_strand|ENST00000403807|protein_coding|2/2|c.113G>A|||||| 22 22599537 . G A . . ANN=A|missense_variant|MODERATE|VPREB1|ENSG00000169575|transcript|ENST00000403807|protein_coding|2/2|c.226G>A|p.Asp76Asn|365/755|226/438|76/145||,A|missense_variant|MODERATE|VPREB1|ENSG00000169575|transcript|ENST00000302273|protein_coding|2/2|c.223G>A|p.Asp75Asn|246/626|223/435|75/144||,A|sequence_feature|LOW|VPREB1|ENSG00000169575|domain:Ig-like_V-type|ENST00000403807|protein_coding|2/2|c.226G>A||||||,A|sequence_feature|LOW|VPREB1|ENSG00000169575|disulfide_bond|ENST00000403807|protein_coding|2/2|c.226G>A||||||,A|sequence_feature|LOW|VPREB1|ENSG00000169575|region_of_interest:Complementarity-determining-2|ENST00000403807|protein_coding|2/2|c.226G>A||||||,A|sequence_feature|LOW|VPREB1|ENSG00000169575|beta_strand|ENST00000403807|protein_coding|2/2|c.226G>A|||||| 22 22599549 . G A . . ANN=A|missense_variant|MODERATE|VPREB1|ENSG00000169575|transcript|ENST00000403807|protein_coding|2/2|c.238G>A|p.Gly80Ser|377/755|238/438|80/145||,A|missense_variant|MODERATE|VPREB1|ENSG00000169575|transcript|ENST00000302273|protein_coding|2/2|c.235G>A|p.Gly79Ser|258/626|235/435|79/144||,A|sequence_feature|LOW|VPREB1|ENSG00000169575|domain:Ig-like_V-type|ENST00000403807|protein_coding|2/2|c.238G>A||||||,A|sequence_feature|LOW|VPREB1|ENSG00000169575|disulfide_bond|ENST00000403807|protein_coding|2/2|c.238G>A||||||,A|sequence_feature|LOW|VPREB1|ENSG00000169575|region_of_interest:Complementarity-determining-2|ENST00000403807|protein_coding|2/2|c.238G>A|||||| 22 22599666 . G T . . ANN=T|missense_variant|MODERATE|VPREB1|ENSG00000169575|transcript|ENST00000403807|protein_coding|2/2|c.355G>T|p.Ala119Ser|494/755|355/438|119/145||,T|missense_variant|MODERATE|VPREB1|ENSG00000169575|transcript|ENST00000302273|protein_coding|2/2|c.352G>T|p.Ala118Ser|375/626|352/435|118/144||,T|sequence_feature|LOW|VPREB1|ENSG00000169575|domain:Ig-like_V-type|ENST00000403807|protein_coding|2/2|c.355G>T|||||| 22 22599669 . C T . . ANN=T|missense_variant|MODERATE|VPREB1|ENSG00000169575|transcript|ENST00000403807|protein_coding|2/2|c.358C>T|p.Arg120Cys|497/755|358/438|120/145||,T|missense_variant|MODERATE|VPREB1|ENSG00000169575|transcript|ENST00000302273|protein_coding|2/2|c.355C>T|p.Arg119Cys|378/626|355/435|119/144||,T|sequence_feature|LOW|VPREB1|ENSG00000169575|domain:Ig-like_V-type|ENST00000403807|protein_coding|2/2|c.358C>T|||||| 22 22599670 . G A . . ANN=A|missense_variant|MODERATE|VPREB1|ENSG00000169575|transcript|ENST00000403807|protein_coding|2/2|c.359G>A|p.Arg120His|498/755|359/438|120/145||,A|missense_variant|MODERATE|VPREB1|ENSG00000169575|transcript|ENST00000302273|protein_coding|2/2|c.356G>A|p.Arg119His|379/626|356/435|119/144||,A|sequence_feature|LOW|VPREB1|ENSG00000169575|domain:Ig-like_V-type|ENST00000403807|protein_coding|2/2|c.359G>A|||||| 22 22599674 . C T . . ANN=T|synonymous_variant|LOW|VPREB1|ENSG00000169575|transcript|ENST00000403807|protein_coding|2/2|c.363C>T|p.Ser121Ser|502/755|363/438|121/145||,T|synonymous_variant|LOW|VPREB1|ENSG00000169575|transcript|ENST00000302273|protein_coding|2/2|c.360C>T|p.Ser120Ser|383/626|360/435|120/144||,T|sequence_feature|LOW|VPREB1|ENSG00000169575|domain:Ig-like_V-type|ENST00000403807|protein_coding|2/2|c.363C>T|||||| 22 22599676 . C T . . ANN=T|missense_variant|MODERATE|VPREB1|ENSG00000169575|transcript|ENST00000403807|protein_coding|2/2|c.365C>T|p.Ser122Leu|504/755|365/438|122/145||,T|missense_variant|MODERATE|VPREB1|ENSG00000169575|transcript|ENST00000302273|protein_coding|2/2|c.362C>T|p.Ser121Leu|385/626|362/435|121/144||,T|sequence_feature|LOW|VPREB1|ENSG00000169575|domain:Ig-like_V-type|ENST00000403807|protein_coding|2/2|c.365C>T|||||| 22 22599705 . G A . . ANN=A|missense_variant|MODERATE|VPREB1|ENSG00000169575|transcript|ENST00000403807|protein_coding|2/2|c.394G>A|p.Glu132Lys|533/755|394/438|132/145||,A|missense_variant|MODERATE|VPREB1|ENSG00000169575|transcript|ENST00000302273|protein_coding|2/2|c.391G>A|p.Glu131Lys|414/626|391/435|131/144||,A|sequence_feature|LOW|VPREB1|ENSG00000169575|domain:Ig-like_V-type|ENST00000403807|protein_coding|2/2|c.394G>A|||||| 22 22599714 . A G . . ANN=G|missense_variant|MODERATE|VPREB1|ENSG00000169575|transcript|ENST00000403807|protein_coding|2/2|c.403A>G|p.Met135Val|542/755|403/438|135/145||,G|missense_variant|MODERATE|VPREB1|ENSG00000169575|transcript|ENST00000302273|protein_coding|2/2|c.400A>G|p.Met134Val|423/626|400/435|134/144|| 22 22842170 . T C . . ANN=C|synonymous_variant|LOW|ZNF280B|ENSG00000198477|transcript|ENST00000360412|protein_coding|4/4|c.1554A>G|p.Ala518Ala|2330/5726|1554/1632|518/543||,C|synonymous_variant|LOW|ZNF280B|ENSG00000198477|transcript|ENST00000406426|protein_coding|4/5|c.1554A>G|p.Ala518Ala|2297/4818|1554/1632|518/543|| 22 22842206 . T C . . ANN=C|synonymous_variant|LOW|ZNF280B|ENSG00000198477|transcript|ENST00000360412|protein_coding|4/4|c.1518A>G|p.Ser506Ser|2294/5726|1518/1632|506/543||,C|synonymous_variant|LOW|ZNF280B|ENSG00000198477|transcript|ENST00000406426|protein_coding|4/5|c.1518A>G|p.Ser506Ser|2261/4818|1518/1632|506/543|| 22 22842308 . G C . . ANN=C|missense_variant|MODERATE|ZNF280B|ENSG00000198477|transcript|ENST00000360412|protein_coding|4/4|c.1416C>G|p.Phe472Leu|2192/5726|1416/1632|472/543||,C|missense_variant|MODERATE|ZNF280B|ENSG00000198477|transcript|ENST00000406426|protein_coding|4/5|c.1416C>G|p.Phe472Leu|2159/4818|1416/1632|472/543||,C|sequence_feature|LOW|ZNF280B|ENSG00000198477|zinc_finger_region:C2H2-type_4|ENST00000406426|protein_coding|4/5|c.1416C>G|||||| 22 22842336 . G A . . ANN=A|missense_variant|MODERATE|ZNF280B|ENSG00000198477|transcript|ENST00000360412|protein_coding|4/4|c.1388C>T|p.Ser463Phe|2164/5726|1388/1632|463/543||,A|missense_variant|MODERATE|ZNF280B|ENSG00000198477|transcript|ENST00000406426|protein_coding|4/5|c.1388C>T|p.Ser463Phe|2131/4818|1388/1632|463/543||,A|sequence_feature|LOW|ZNF280B|ENSG00000198477|zinc_finger_region:C2H2-type_4|ENST00000406426|protein_coding|4/5|c.1388C>T|||||| 22 22842452 . C T . . ANN=T|synonymous_variant|LOW|ZNF280B|ENSG00000198477|transcript|ENST00000360412|protein_coding|4/4|c.1272G>A|p.Thr424Thr|2048/5726|1272/1632|424/543||,T|synonymous_variant|LOW|ZNF280B|ENSG00000198477|transcript|ENST00000406426|protein_coding|4/5|c.1272G>A|p.Thr424Thr|2015/4818|1272/1632|424/543|| 22 22842484 . C T . . ANN=T|missense_variant|MODERATE|ZNF280B|ENSG00000198477|transcript|ENST00000360412|protein_coding|4/4|c.1240G>A|p.Val414Ile|2016/5726|1240/1632|414/543||,T|missense_variant|MODERATE|ZNF280B|ENSG00000198477|transcript|ENST00000406426|protein_coding|4/5|c.1240G>A|p.Val414Ile|1983/4818|1240/1632|414/543|| 22 22842637 . C T . . ANN=T|missense_variant|MODERATE|ZNF280B|ENSG00000198477|transcript|ENST00000360412|protein_coding|4/4|c.1087G>A|p.Glu363Lys|1863/5726|1087/1632|363/543||,T|missense_variant|MODERATE|ZNF280B|ENSG00000198477|transcript|ENST00000406426|protein_coding|4/5|c.1087G>A|p.Glu363Lys|1830/4818|1087/1632|363/543||,T|sequence_feature|LOW|ZNF280B|ENSG00000198477|zinc_finger_region:C2H2-type_1|ENST00000406426|protein_coding|4/5|c.1087G>A|||||| 22 22842660 . G A . . ANN=A|missense_variant|MODERATE|ZNF280B|ENSG00000198477|transcript|ENST00000360412|protein_coding|4/4|c.1064C>T|p.Pro355Leu|1840/5726|1064/1632|355/543||,A|missense_variant|MODERATE|ZNF280B|ENSG00000198477|transcript|ENST00000406426|protein_coding|4/5|c.1064C>T|p.Pro355Leu|1807/4818|1064/1632|355/543||,A|sequence_feature|LOW|ZNF280B|ENSG00000198477|zinc_finger_region:C2H2-type_1|ENST00000406426|protein_coding|4/5|c.1064C>T|||||| 22 22842787 . C T . . ANN=T|missense_variant|MODERATE|ZNF280B|ENSG00000198477|transcript|ENST00000360412|protein_coding|4/4|c.937G>A|p.Val313Met|1713/5726|937/1632|313/543||,T|missense_variant|MODERATE|ZNF280B|ENSG00000198477|transcript|ENST00000406426|protein_coding|4/5|c.937G>A|p.Val313Met|1680/4818|937/1632|313/543|| 22 22842788 . G A . . ANN=A|synonymous_variant|LOW|ZNF280B|ENSG00000198477|transcript|ENST00000360412|protein_coding|4/4|c.936C>T|p.Cys312Cys|1712/5726|936/1632|312/543||,A|synonymous_variant|LOW|ZNF280B|ENSG00000198477|transcript|ENST00000406426|protein_coding|4/5|c.936C>T|p.Cys312Cys|1679/4818|936/1632|312/543|| 22 22842828 . G A . . ANN=A|missense_variant|MODERATE|ZNF280B|ENSG00000198477|transcript|ENST00000360412|protein_coding|4/4|c.896C>T|p.Pro299Leu|1672/5726|896/1632|299/543||,A|missense_variant|MODERATE|ZNF280B|ENSG00000198477|transcript|ENST00000406426|protein_coding|4/5|c.896C>T|p.Pro299Leu|1639/4818|896/1632|299/543|| 22 22842957 . T G . . ANN=G|missense_variant|MODERATE|ZNF280B|ENSG00000198477|transcript|ENST00000360412|protein_coding|4/4|c.767A>C|p.Glu256Ala|1543/5726|767/1632|256/543||,G|missense_variant|MODERATE|ZNF280B|ENSG00000198477|transcript|ENST00000406426|protein_coding|4/5|c.767A>C|p.Glu256Ala|1510/4818|767/1632|256/543|| 22 22843002 . TTTGGAAAAGCTG T . . ANN=|disruptive_inframe_deletion|MODERATE|ZNF280B|ENSG00000198477|transcript|ENST00000360412|protein_coding|4/4|c.710_721delCAGCTTTTCCAA|p.Ala237_Lys241delinsGlu|1497/5726|710/1632|237/543||,|disruptive_inframe_deletion|MODERATE|ZNF280B|ENSG00000198477|transcript|ENST00000406426|protein_coding|4/5|c.710_721delCAGCTTTTCCAA|p.Ala237_Lys241delinsGlu|1464/4818|710/1632|237/543|| 22 22843118 . C T . . ANN=T|synonymous_variant|LOW|ZNF280B|ENSG00000198477|transcript|ENST00000360412|protein_coding|4/4|c.606G>A|p.Ser202Ser|1382/5726|606/1632|202/543||,T|synonymous_variant|LOW|ZNF280B|ENSG00000198477|transcript|ENST00000406426|protein_coding|4/5|c.606G>A|p.Ser202Ser|1349/4818|606/1632|202/543|| 22 22843151 . C T . . ANN=T|synonymous_variant|LOW|ZNF280B|ENSG00000198477|transcript|ENST00000360412|protein_coding|4/4|c.573G>A|p.Arg191Arg|1349/5726|573/1632|191/543||,T|synonymous_variant|LOW|ZNF280B|ENSG00000198477|transcript|ENST00000406426|protein_coding|4/5|c.573G>A|p.Arg191Arg|1316/4818|573/1632|191/543|| 22 22843190 . G A . . ANN=A|synonymous_variant|LOW|ZNF280B|ENSG00000198477|transcript|ENST00000360412|protein_coding|4/4|c.534C>T|p.Phe178Phe|1310/5726|534/1632|178/543||,A|synonymous_variant|LOW|ZNF280B|ENSG00000198477|transcript|ENST00000406426|protein_coding|4/5|c.534C>T|p.Phe178Phe|1277/4818|534/1632|178/543|| 22 22843191 . A G . . ANN=G|missense_variant|MODERATE|ZNF280B|ENSG00000198477|transcript|ENST00000360412|protein_coding|4/4|c.533T>C|p.Phe178Ser|1309/5726|533/1632|178/543||,G|missense_variant|MODERATE|ZNF280B|ENSG00000198477|transcript|ENST00000406426|protein_coding|4/5|c.533T>C|p.Phe178Ser|1276/4818|533/1632|178/543|| 22 22843224 . T C . . ANN=C|missense_variant|MODERATE|ZNF280B|ENSG00000198477|transcript|ENST00000360412|protein_coding|4/4|c.500A>G|p.Glu167Gly|1276/5726|500/1632|167/543||,C|missense_variant|MODERATE|ZNF280B|ENSG00000198477|transcript|ENST00000406426|protein_coding|4/5|c.500A>G|p.Glu167Gly|1243/4818|500/1632|167/543|| 22 22843284 . G A . . ANN=A|missense_variant|MODERATE|ZNF280B|ENSG00000198477|transcript|ENST00000360412|protein_coding|4/4|c.440C>T|p.Thr147Ile|1216/5726|440/1632|147/543||,A|missense_variant|MODERATE|ZNF280B|ENSG00000198477|transcript|ENST00000406426|protein_coding|4/5|c.440C>T|p.Thr147Ile|1183/4818|440/1632|147/543|| 22 22843423 . C T . . ANN=T|missense_variant|MODERATE|ZNF280B|ENSG00000198477|transcript|ENST00000360412|protein_coding|4/4|c.301G>A|p.Val101Ile|1077/5726|301/1632|101/543||,T|missense_variant|MODERATE|ZNF280B|ENSG00000198477|transcript|ENST00000406426|protein_coding|4/5|c.301G>A|p.Val101Ile|1044/4818|301/1632|101/543|| 22 22843469 . T C . . ANN=C|synonymous_variant|LOW|ZNF280B|ENSG00000198477|transcript|ENST00000360412|protein_coding|4/4|c.255A>G|p.Lys85Lys|1031/5726|255/1632|85/543||,C|synonymous_variant|LOW|ZNF280B|ENSG00000198477|transcript|ENST00000406426|protein_coding|4/5|c.255A>G|p.Lys85Lys|998/4818|255/1632|85/543|| 22 22843749 . GT G . . ANN=|5_prime_UTR_variant|MODIFIER|ZNF280B|ENSG00000198477|transcript|ENST00000360412|protein_coding|4/4|c.-27delA|||||27|,|5_prime_UTR_variant|MODIFIER|ZNF280B|ENSG00000198477|transcript|ENST00000406426|protein_coding|4/5|c.-27delA|||||27| 22 22868306 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|ZNF280A|ENSG00000169548|transcript|ENST00000302097|protein_coding|2/2|c.*20C>T|||||20|,A|upstream_gene_variant|MODIFIER|ZNF280B|ENSG00000198477|transcript|ENST00000360412|protein_coding||c.-777C>T|||||4801|,A|upstream_gene_variant|MODIFIER|snoU13|ENSG00000239066|transcript|ENST00000459485|snoRNA||n.-1G>A|||||3810|,A|upstream_gene_variant|MODIFIER|ZNF280B|ENSG00000198477|transcript|ENST00000406426|protein_coding||c.-744C>T|||||4834| 22 22868316 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|ZNF280A|ENSG00000169548|transcript|ENST00000302097|protein_coding|2/2|c.*10C>T|||||10|,A|upstream_gene_variant|MODIFIER|ZNF280B|ENSG00000198477|transcript|ENST00000360412|protein_coding||c.-777C>T|||||4811|,A|upstream_gene_variant|MODIFIER|snoU13|ENSG00000239066|transcript|ENST00000459485|snoRNA||n.-1G>A|||||3800|,A|upstream_gene_variant|MODIFIER|ZNF280B|ENSG00000198477|transcript|ENST00000406426|protein_coding||c.-744C>T|||||4844| 22 22868413 . G A . . ANN=A|synonymous_variant|LOW|ZNF280A|ENSG00000169548|transcript|ENST00000302097|protein_coding|2/2|c.1542C>T|p.Asp514Asp|1795/2148|1542/1629|514/542||,A|upstream_gene_variant|MODIFIER|ZNF280B|ENSG00000198477|transcript|ENST00000360412|protein_coding||c.-777C>T|||||4908|,A|upstream_gene_variant|MODIFIER|snoU13|ENSG00000239066|transcript|ENST00000459485|snoRNA||n.-1G>A|||||3703|,A|upstream_gene_variant|MODIFIER|ZNF280B|ENSG00000198477|transcript|ENST00000406426|protein_coding||c.-744C>T|||||4941| 22 22868493 . G T . . ANN=T|missense_variant|MODERATE|ZNF280A|ENSG00000169548|transcript|ENST00000302097|protein_coding|2/2|c.1462C>A|p.Arg488Ser|1715/2148|1462/1629|488/542||,T|upstream_gene_variant|MODIFIER|ZNF280B|ENSG00000198477|transcript|ENST00000360412|protein_coding||c.-777C>A|||||4988|,T|upstream_gene_variant|MODIFIER|snoU13|ENSG00000239066|transcript|ENST00000459485|snoRNA||n.-1G>T|||||3623| 22 22868497 . G C . . ANN=C|missense_variant|MODERATE|ZNF280A|ENSG00000169548|transcript|ENST00000302097|protein_coding|2/2|c.1458C>G|p.Phe486Leu|1711/2148|1458/1629|486/542||,C|upstream_gene_variant|MODIFIER|ZNF280B|ENSG00000198477|transcript|ENST00000360412|protein_coding||c.-777C>G|||||4992|,C|upstream_gene_variant|MODIFIER|snoU13|ENSG00000239066|transcript|ENST00000459485|snoRNA||n.-1G>C|||||3619| 22 22868570 . G A . . ANN=A|missense_variant|MODERATE|ZNF280A|ENSG00000169548|transcript|ENST00000302097|protein_coding|2/2|c.1385C>T|p.Thr462Met|1638/2148|1385/1629|462/542||,A|sequence_feature|LOW|ZNF280A|ENSG00000169548|zinc_finger_region:C2H2-type_4|ENST00000302097|protein_coding|2/2|c.1385C>T||||||,A|upstream_gene_variant|MODIFIER|snoU13|ENSG00000239066|transcript|ENST00000459485|snoRNA||n.-1G>A|||||3546| 22 22868572 . CA C . . ANN=|frameshift_variant|HIGH|ZNF280A|ENSG00000169548|transcript|ENST00000302097|protein_coding|2/2|c.1382delT|p.Leu461fs|1635/2148|1382/1629|461/542||,|sequence_feature|LOW|ZNF280A|ENSG00000169548|zinc_finger_region:C2H2-type_4|ENST00000302097|protein_coding|2/2|c.1382delT||||||,|upstream_gene_variant|MODIFIER|snoU13|ENSG00000239066|transcript|ENST00000459485|snoRNA||n.-1delA|||||3543|;LOF=(ZNF280A|ENSG00000169548|1|1.00) 22 22868574 . A G . . ANN=G|synonymous_variant|LOW|ZNF280A|ENSG00000169548|transcript|ENST00000302097|protein_coding|2/2|c.1381T>C|p.Leu461Leu|1634/2148|1381/1629|461/542||,G|sequence_feature|LOW|ZNF280A|ENSG00000169548|zinc_finger_region:C2H2-type_4|ENST00000302097|protein_coding|2/2|c.1381T>C||||||,G|upstream_gene_variant|MODIFIER|snoU13|ENSG00000239066|transcript|ENST00000459485|snoRNA||n.-1A>G|||||3542| 22 22868592 . TG T . . ANN=|frameshift_variant|HIGH|ZNF280A|ENSG00000169548|transcript|ENST00000302097|protein_coding|2/2|c.1362delC|p.Ser454fs|1615/2148|1362/1629|454/542||,|sequence_feature|LOW|ZNF280A|ENSG00000169548|zinc_finger_region:C2H2-type_4|ENST00000302097|protein_coding|2/2|c.1362delC||||||,|upstream_gene_variant|MODIFIER|snoU13|ENSG00000239066|transcript|ENST00000459485|snoRNA||n.-1delG|||||3523|;LOF=(ZNF280A|ENSG00000169548|1|1.00) 22 22868692 . C A . . ANN=A|missense_variant|MODERATE|ZNF280A|ENSG00000169548|transcript|ENST00000302097|protein_coding|2/2|c.1263G>T|p.Lys421Asn|1516/2148|1263/1629|421/542||,A|upstream_gene_variant|MODIFIER|snoU13|ENSG00000239066|transcript|ENST00000459485|snoRNA||n.-1C>A|||||3424| 22 22869085 . C T . . ANN=T|synonymous_variant|LOW|ZNF280A|ENSG00000169548|transcript|ENST00000302097|protein_coding|2/2|c.870G>A|p.Pro290Pro|1123/2148|870/1629|290/542||,T|upstream_gene_variant|MODIFIER|snoU13|ENSG00000239066|transcript|ENST00000459485|snoRNA||n.-1C>T|||||3031| 22 22869123 . T C . . ANN=C|missense_variant|MODERATE|ZNF280A|ENSG00000169548|transcript|ENST00000302097|protein_coding|2/2|c.832A>G|p.Asn278Asp|1085/2148|832/1629|278/542||,C|upstream_gene_variant|MODIFIER|snoU13|ENSG00000239066|transcript|ENST00000459485|snoRNA||n.-1T>C|||||2993| 22 22869129 . G A . . ANN=A|missense_variant|MODERATE|ZNF280A|ENSG00000169548|transcript|ENST00000302097|protein_coding|2/2|c.826C>T|p.Leu276Phe|1079/2148|826/1629|276/542||,A|upstream_gene_variant|MODIFIER|snoU13|ENSG00000239066|transcript|ENST00000459485|snoRNA||n.-1G>A|||||2987| 22 22869136 . G A . . ANN=A|synonymous_variant|LOW|ZNF280A|ENSG00000169548|transcript|ENST00000302097|protein_coding|2/2|c.819C>T|p.Ile273Ile|1072/2148|819/1629|273/542||,A|upstream_gene_variant|MODIFIER|snoU13|ENSG00000239066|transcript|ENST00000459485|snoRNA||n.-1G>A|||||2980| 22 22869170 . T G . . ANN=G|missense_variant|MODERATE|ZNF280A|ENSG00000169548|transcript|ENST00000302097|protein_coding|2/2|c.785A>C|p.Asn262Thr|1038/2148|785/1629|262/542||,G|upstream_gene_variant|MODIFIER|snoU13|ENSG00000239066|transcript|ENST00000459485|snoRNA||n.-1T>G|||||2946| 22 22869209 . C G . . ANN=G|missense_variant|MODERATE|ZNF280A|ENSG00000169548|transcript|ENST00000302097|protein_coding|2/2|c.746G>C|p.Gly249Ala|999/2148|746/1629|249/542||,G|upstream_gene_variant|MODIFIER|snoU13|ENSG00000239066|transcript|ENST00000459485|snoRNA||n.-1C>G|||||2907| 22 22869218 . T C . . ANN=C|missense_variant|MODERATE|ZNF280A|ENSG00000169548|transcript|ENST00000302097|protein_coding|2/2|c.737A>G|p.Asn246Ser|990/2148|737/1629|246/542||,C|upstream_gene_variant|MODIFIER|snoU13|ENSG00000239066|transcript|ENST00000459485|snoRNA||n.-1T>C|||||2898| 22 22869316 . G A . . ANN=A|synonymous_variant|LOW|ZNF280A|ENSG00000169548|transcript|ENST00000302097|protein_coding|2/2|c.639C>T|p.Ile213Ile|892/2148|639/1629|213/542||,A|upstream_gene_variant|MODIFIER|snoU13|ENSG00000239066|transcript|ENST00000459485|snoRNA||n.-1G>A|||||2800| 22 22869349 . A G . . ANN=G|synonymous_variant|LOW|ZNF280A|ENSG00000169548|transcript|ENST00000302097|protein_coding|2/2|c.606T>C|p.Ser202Ser|859/2148|606/1629|202/542||,G|upstream_gene_variant|MODIFIER|snoU13|ENSG00000239066|transcript|ENST00000459485|snoRNA||n.-1A>G|||||2767| 22 22869439 . A G . . ANN=G|synonymous_variant|LOW|ZNF280A|ENSG00000169548|transcript|ENST00000302097|protein_coding|2/2|c.516T>C|p.Asp172Asp|769/2148|516/1629|172/542||,G|upstream_gene_variant|MODIFIER|snoU13|ENSG00000239066|transcript|ENST00000459485|snoRNA||n.-1A>G|||||2677| 22 22869470 . G C . . ANN=C|missense_variant|MODERATE|ZNF280A|ENSG00000169548|transcript|ENST00000302097|protein_coding|2/2|c.485C>G|p.Ser162Cys|738/2148|485/1629|162/542||,C|upstream_gene_variant|MODIFIER|snoU13|ENSG00000239066|transcript|ENST00000459485|snoRNA||n.-1G>C|||||2646| 22 22869477 . C T . . ANN=T|missense_variant|MODERATE|ZNF280A|ENSG00000169548|transcript|ENST00000302097|protein_coding|2/2|c.478G>A|p.Glu160Lys|731/2148|478/1629|160/542||,T|upstream_gene_variant|MODIFIER|snoU13|ENSG00000239066|transcript|ENST00000459485|snoRNA||n.-1C>T|||||2639| 22 22869520 . A G . . ANN=G|synonymous_variant|LOW|ZNF280A|ENSG00000169548|transcript|ENST00000302097|protein_coding|2/2|c.435T>C|p.Thr145Thr|688/2148|435/1629|145/542||,G|upstream_gene_variant|MODIFIER|snoU13|ENSG00000239066|transcript|ENST00000459485|snoRNA||n.-1A>G|||||2596| 22 22869528 . G T . . ANN=T|missense_variant|MODERATE|ZNF280A|ENSG00000169548|transcript|ENST00000302097|protein_coding|2/2|c.427C>A|p.Pro143Thr|680/2148|427/1629|143/542||,T|upstream_gene_variant|MODIFIER|snoU13|ENSG00000239066|transcript|ENST00000459485|snoRNA||n.-1G>T|||||2588| 22 22869545 . T G . . ANN=G|missense_variant|MODERATE|ZNF280A|ENSG00000169548|transcript|ENST00000302097|protein_coding|2/2|c.410A>C|p.Tyr137Ser|663/2148|410/1629|137/542||,G|upstream_gene_variant|MODIFIER|snoU13|ENSG00000239066|transcript|ENST00000459485|snoRNA||n.-1T>G|||||2571| 22 22869649 . G C . . ANN=C|synonymous_variant|LOW|ZNF280A|ENSG00000169548|transcript|ENST00000302097|protein_coding|2/2|c.306C>G|p.Pro102Pro|559/2148|306/1629|102/542||,C|upstream_gene_variant|MODIFIER|snoU13|ENSG00000239066|transcript|ENST00000459485|snoRNA||n.-1G>C|||||2467| 22 22869684 . T G . . ANN=G|missense_variant|MODERATE|ZNF280A|ENSG00000169548|transcript|ENST00000302097|protein_coding|2/2|c.271A>C|p.Asn91His|524/2148|271/1629|91/542||,G|upstream_gene_variant|MODIFIER|snoU13|ENSG00000239066|transcript|ENST00000459485|snoRNA||n.-1T>G|||||2432| 22 22869694 . C T . . ANN=T|synonymous_variant|LOW|ZNF280A|ENSG00000169548|transcript|ENST00000302097|protein_coding|2/2|c.261G>A|p.Ser87Ser|514/2148|261/1629|87/542||,T|upstream_gene_variant|MODIFIER|snoU13|ENSG00000239066|transcript|ENST00000459485|snoRNA||n.-1C>T|||||2422| 22 22869742 . C A . . ANN=A|missense_variant|MODERATE|ZNF280A|ENSG00000169548|transcript|ENST00000302097|protein_coding|2/2|c.213G>T|p.Lys71Asn|466/2148|213/1629|71/542||,A|upstream_gene_variant|MODIFIER|snoU13|ENSG00000239066|transcript|ENST00000459485|snoRNA||n.-1C>A|||||2374| 22 22869877 . A G . . ANN=G|synonymous_variant|LOW|ZNF280A|ENSG00000169548|transcript|ENST00000302097|protein_coding|2/2|c.78T>C|p.Asp26Asp|331/2148|78/1629|26/542||,G|upstream_gene_variant|MODIFIER|snoU13|ENSG00000239066|transcript|ENST00000459485|snoRNA||n.-1A>G|||||2239| 22 22869888 . T C . . ANN=C|missense_variant|MODERATE|ZNF280A|ENSG00000169548|transcript|ENST00000302097|protein_coding|2/2|c.67A>G|p.Arg23Gly|320/2148|67/1629|23/542||,C|upstream_gene_variant|MODIFIER|snoU13|ENSG00000239066|transcript|ENST00000459485|snoRNA||n.-1T>C|||||2228| 22 22890461 . G T . . ANN=T|3_prime_UTR_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|6/6|c.*28C>A|||||28|,T|3_prime_UTR_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|6/6|c.*28C>A|||||28|,T|3_prime_UTR_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|5/5|c.*28C>A|||||28|,T|3_prime_UTR_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|6/6|c.*28C>A|||||28|,T|3_prime_UTR_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|4/4|c.*28C>A|||||28|,T|3_prime_UTR_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|6/6|c.*28C>A|||||28|,T|3_prime_UTR_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|4/4|c.*28C>A|||||28|,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding||c.*891C>A|||||2035|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding||c.*566C>A|||||2144|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding||c.*705C>A|||||2182|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript||n.*589C>A|||||2207|,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript||n.*709C>A|||||2260|,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding||c.*731C>A|||||2715|,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay||n.*341C>A|||||2780|,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding||c.*567C>A|||||2813|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|5/5|n.2493C>A|||||| 22 22890486 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|6/6|c.*3G>A|||||3|,T|3_prime_UTR_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|6/6|c.*3G>A|||||3|,T|3_prime_UTR_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|5/5|c.*3G>A|||||3|,T|3_prime_UTR_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|6/6|c.*3G>A|||||3|,T|3_prime_UTR_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|4/4|c.*3G>A|||||3|,T|3_prime_UTR_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|6/6|c.*3G>A|||||3|,T|3_prime_UTR_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|4/4|c.*3G>A|||||3|,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding||c.*891G>A|||||2010|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding||c.*566G>A|||||2119|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding||c.*705G>A|||||2157|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript||n.*589G>A|||||2182|,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript||n.*709G>A|||||2235|,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding||c.*731G>A|||||2690|,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay||n.*341G>A|||||2755|,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding||c.*567G>A|||||2788|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|5/5|n.2468G>A|||||| 22 22890492 . G A . . ANN=A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|6/6|c.1527C>T|p.Asn509Asn|1834/2202|1527/1530|509/509||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|6/6|c.1527C>T|p.Asn509Asn|1827/2196|1527/1530|509/509||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|5/5|c.1527C>T|p.Asn509Asn|2390/2758|1527/1530|509/509||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|6/6|c.1527C>T|p.Asn509Asn|1813/2179|1527/1530|509/509||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|4/4|c.1479C>T|p.Asn493Asn|1859/2223|1479/1482|493/493||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|6/6|c.1527C>T|p.Asn509Asn|1754/2057|1527/1530|509/509||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|4/4|c.1479C>T|p.Asn493Asn|1597/1766|1479/1482|493/493||,A|sequence_feature|LOW|PRAME|ENSG00000185686|region_of_interest:Mediates_interaction_with_RARA|ENST00000402697|protein_coding|6/6|c.1527C>T||||||,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding||c.*891C>T|||||2004|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding||c.*566C>T|||||2113|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding||c.*705C>T|||||2151|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript||n.*589C>T|||||2176|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript||n.*709C>T|||||2229|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding||c.*731C>T|||||2684|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay||n.*341C>T|||||2749|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding||c.*567C>T|||||2782|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|5/5|n.2462C>T|||||| 22 22890505 . CAG C . . ANN=|frameshift_variant|HIGH|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|6/6|c.1512_1513delCT|p.Pro504fs|1820/2202|1512/1530|504/509||,|frameshift_variant|HIGH|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|6/6|c.1512_1513delCT|p.Pro504fs|1813/2196|1512/1530|504/509||,|frameshift_variant|HIGH|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|5/5|c.1512_1513delCT|p.Pro504fs|2376/2758|1512/1530|504/509||,|frameshift_variant|HIGH|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|6/6|c.1512_1513delCT|p.Pro504fs|1799/2179|1512/1530|504/509||,|frameshift_variant|HIGH|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|4/4|c.1464_1465delCT|p.Pro488fs|1845/2223|1464/1482|488/493||,|frameshift_variant|HIGH|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|6/6|c.1512_1513delCT|p.Pro504fs|1740/2057|1512/1530|504/509||,|frameshift_variant|HIGH|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|4/4|c.1464_1465delCT|p.Pro488fs|1583/1766|1464/1482|488/493||,|sequence_feature|LOW|PRAME|ENSG00000185686|region_of_interest:Mediates_interaction_with_RARA|ENST00000402697|protein_coding|6/6|c.1512_1513delCT||||||,|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding||c.*891_*891delCT|||||1990|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding||c.*566_*566delCT|||||2099|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding||c.*705_*705delCT|||||2137|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript||n.*589_*589delCT|||||2162|,|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript||n.*709_*709delCT|||||2215|,|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding||c.*731_*731delCT|||||2670|,|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay||n.*341_*341delCT|||||2735|,|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding||c.*567_*567delCT|||||2768|WARNING_TRANSCRIPT_INCOMPLETE,|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|5/5|n.2447_2448delCT|||||| 22 22890532 . TAGA T . . ANN=|disruptive_inframe_deletion|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|6/6|c.1484_1486delTCT|p.Phe495del|1793/2202|1484/1530|495/509||,|disruptive_inframe_deletion|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|6/6|c.1484_1486delTCT|p.Phe495del|1786/2196|1484/1530|495/509||,|disruptive_inframe_deletion|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|5/5|c.1484_1486delTCT|p.Phe495del|2349/2758|1484/1530|495/509||,|disruptive_inframe_deletion|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|6/6|c.1484_1486delTCT|p.Phe495del|1772/2179|1484/1530|495/509||,|disruptive_inframe_deletion|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|4/4|c.1436_1438delTCT|p.Phe479del|1818/2223|1436/1482|479/493||,|disruptive_inframe_deletion|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|6/6|c.1484_1486delTCT|p.Phe495del|1713/2057|1484/1530|495/509||,|disruptive_inframe_deletion|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|4/4|c.1436_1438delTCT|p.Phe479del|1556/1766|1436/1482|479/493||,|sequence_feature|LOW|PRAME|ENSG00000185686|region_of_interest:Mediates_interaction_with_RARA|ENST00000402697|protein_coding|6/6|c.1484_1486delTCT||||||,|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding||c.*891_*891delTCT|||||1963|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding||c.*566_*566delTCT|||||2072|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding||c.*705_*705delTCT|||||2110|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript||n.*589_*589delTCT|||||2135|,|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript||n.*709_*709delTCT|||||2188|,|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding||c.*731_*731delTCT|||||2643|,|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay||n.*341_*341delTCT|||||2708|,|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding||c.*567_*567delTCT|||||2741|WARNING_TRANSCRIPT_INCOMPLETE,|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|5/5|n.2419_2421delTCT|||||| 22 22890552 . G A . . ANN=A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|6/6|c.1467C>T|p.His489His|1774/2202|1467/1530|489/509||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|6/6|c.1467C>T|p.His489His|1767/2196|1467/1530|489/509||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|5/5|c.1467C>T|p.His489His|2330/2758|1467/1530|489/509||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|6/6|c.1467C>T|p.His489His|1753/2179|1467/1530|489/509||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|4/4|c.1419C>T|p.His473His|1799/2223|1419/1482|473/493||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|6/6|c.1467C>T|p.His489His|1694/2057|1467/1530|489/509||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|4/4|c.1419C>T|p.His473His|1537/1766|1419/1482|473/493||,A|sequence_feature|LOW|PRAME|ENSG00000185686|region_of_interest:Mediates_interaction_with_RARA|ENST00000402697|protein_coding|6/6|c.1467C>T||||||,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding||c.*891C>T|||||1944|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding||c.*566C>T|||||2053|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding||c.*705C>T|||||2091|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript||n.*589C>T|||||2116|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript||n.*709C>T|||||2169|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding||c.*731C>T|||||2624|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay||n.*341C>T|||||2689|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding||c.*567C>T|||||2722|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|5/5|n.2402C>T|||||| 22 22890562 . G C . . ANN=C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|6/6|c.1457C>G|p.Pro486Arg|1764/2202|1457/1530|486/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|6/6|c.1457C>G|p.Pro486Arg|1757/2196|1457/1530|486/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|5/5|c.1457C>G|p.Pro486Arg|2320/2758|1457/1530|486/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|6/6|c.1457C>G|p.Pro486Arg|1743/2179|1457/1530|486/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|4/4|c.1409C>G|p.Pro470Arg|1789/2223|1409/1482|470/493||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|6/6|c.1457C>G|p.Pro486Arg|1684/2057|1457/1530|486/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|4/4|c.1409C>G|p.Pro470Arg|1527/1766|1409/1482|470/493||,C|sequence_feature|LOW|PRAME|ENSG00000185686|region_of_interest:Mediates_interaction_with_RARA|ENST00000402697|protein_coding|6/6|c.1457C>G||||||,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding||c.*891C>G|||||1934|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding||c.*566C>G|||||2043|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding||c.*705C>G|||||2081|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript||n.*589C>G|||||2106|,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript||n.*709C>G|||||2159|,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding||c.*731C>G|||||2614|,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay||n.*341C>G|||||2679|,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding||c.*567C>G|||||2712|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|5/5|n.2392C>G|||||| 22 22890593 . G A . . ANN=A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|6/6|c.1426C>T|p.Arg476Trp|1733/2202|1426/1530|476/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|6/6|c.1426C>T|p.Arg476Trp|1726/2196|1426/1530|476/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|5/5|c.1426C>T|p.Arg476Trp|2289/2758|1426/1530|476/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|6/6|c.1426C>T|p.Arg476Trp|1712/2179|1426/1530|476/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|4/4|c.1378C>T|p.Arg460Trp|1758/2223|1378/1482|460/493||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|6/6|c.1426C>T|p.Arg476Trp|1653/2057|1426/1530|476/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|4/4|c.1378C>T|p.Arg460Trp|1496/1766|1378/1482|460/493||,A|sequence_feature|LOW|PRAME|ENSG00000185686|region_of_interest:Mediates_interaction_with_RARA|ENST00000402697|protein_coding|6/6|c.1426C>T||||||,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding||c.*891C>T|||||1903|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding||c.*566C>T|||||2012|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding||c.*705C>T|||||2050|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript||n.*589C>T|||||2075|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript||n.*709C>T|||||2128|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding||c.*731C>T|||||2583|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay||n.*341C>T|||||2648|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding||c.*567C>T|||||2681|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|5/5|n.2361C>T|||||| 22 22890642 . C A . . ANN=A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|6/6|c.1377G>T|p.Arg459Ser|1684/2202|1377/1530|459/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|6/6|c.1377G>T|p.Arg459Ser|1677/2196|1377/1530|459/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|5/5|c.1377G>T|p.Arg459Ser|2240/2758|1377/1530|459/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|6/6|c.1377G>T|p.Arg459Ser|1663/2179|1377/1530|459/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|4/4|c.1329G>T|p.Arg443Ser|1709/2223|1329/1482|443/493||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|6/6|c.1377G>T|p.Arg459Ser|1604/2057|1377/1530|459/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|4/4|c.1329G>T|p.Arg443Ser|1447/1766|1329/1482|443/493||,A|sequence_feature|LOW|PRAME|ENSG00000185686|region_of_interest:Mediates_interaction_with_RARA|ENST00000402697|protein_coding|6/6|c.1377G>T||||||,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding||c.*891G>T|||||1854|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding||c.*566G>T|||||1963|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding||c.*705G>T|||||2001|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript||n.*589G>T|||||2026|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript||n.*709G>T|||||2079|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding||c.*731G>T|||||2534|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay||n.*341G>T|||||2599|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding||c.*567G>T|||||2632|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|5/5|n.2312G>T|||||| 22 22890722 . G A . . ANN=A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|6/6|c.1297C>T|p.Leu433Leu|1604/2202|1297/1530|433/509||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|6/6|c.1297C>T|p.Leu433Leu|1597/2196|1297/1530|433/509||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|5/5|c.1297C>T|p.Leu433Leu|2160/2758|1297/1530|433/509||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|6/6|c.1297C>T|p.Leu433Leu|1583/2179|1297/1530|433/509||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|4/4|c.1249C>T|p.Leu417Leu|1629/2223|1249/1482|417/493||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|6/6|c.1297C>T|p.Leu433Leu|1524/2057|1297/1530|433/509||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|4/4|c.1249C>T|p.Leu417Leu|1367/1766|1249/1482|417/493||,A|sequence_feature|LOW|PRAME|ENSG00000185686|region_of_interest:Mediates_interaction_with_RARA|ENST00000402697|protein_coding|6/6|c.1297C>T||||||,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding||c.*891C>T|||||1774|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding||c.*566C>T|||||1883|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding||c.*705C>T|||||1921|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript||n.*589C>T|||||1946|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript||n.*709C>T|||||1999|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding||c.*731C>T|||||2454|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay||n.*341C>T|||||2519|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding||c.*567C>T|||||2552|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|5/5|n.2232C>T|||||| 22 22890752 . A G . . ANN=G|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|6/6|c.1267T>C|p.Leu423Leu|1574/2202|1267/1530|423/509||,G|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|6/6|c.1267T>C|p.Leu423Leu|1567/2196|1267/1530|423/509||,G|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|5/5|c.1267T>C|p.Leu423Leu|2130/2758|1267/1530|423/509||,G|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|6/6|c.1267T>C|p.Leu423Leu|1553/2179|1267/1530|423/509||,G|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|4/4|c.1219T>C|p.Leu407Leu|1599/2223|1219/1482|407/493||,G|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|6/6|c.1267T>C|p.Leu423Leu|1494/2057|1267/1530|423/509||,G|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|4/4|c.1219T>C|p.Leu407Leu|1337/1766|1219/1482|407/493||,G|sequence_feature|LOW|PRAME|ENSG00000185686|region_of_interest:Mediates_interaction_with_RARA|ENST00000402697|protein_coding|6/6|c.1267T>C||||||,G|sequence_feature|LOW|PRAME|ENSG00000185686|repeat:LRR_4|ENST00000402697|protein_coding|6/6|c.1267T>C||||||,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding||c.*891T>C|||||1744|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding||c.*566T>C|||||1853|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding||c.*705T>C|||||1891|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript||n.*589T>C|||||1916|,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript||n.*709T>C|||||1969|,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding||c.*731T>C|||||2424|,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay||n.*341T>C|||||2489|,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding||c.*567T>C|||||2522|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|5/5|n.2202T>C|||||| 22 22890756 . A G . . ANN=G|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|6/6|c.1263T>C|p.Ser421Ser|1570/2202|1263/1530|421/509||,G|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|6/6|c.1263T>C|p.Ser421Ser|1563/2196|1263/1530|421/509||,G|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|5/5|c.1263T>C|p.Ser421Ser|2126/2758|1263/1530|421/509||,G|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|6/6|c.1263T>C|p.Ser421Ser|1549/2179|1263/1530|421/509||,G|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|4/4|c.1215T>C|p.Ser405Ser|1595/2223|1215/1482|405/493||,G|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|6/6|c.1263T>C|p.Ser421Ser|1490/2057|1263/1530|421/509||,G|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|4/4|c.1215T>C|p.Ser405Ser|1333/1766|1215/1482|405/493||,G|sequence_feature|LOW|PRAME|ENSG00000185686|region_of_interest:Mediates_interaction_with_RARA|ENST00000402697|protein_coding|6/6|c.1263T>C||||||,G|sequence_feature|LOW|PRAME|ENSG00000185686|repeat:LRR_4|ENST00000402697|protein_coding|6/6|c.1263T>C||||||,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding||c.*891T>C|||||1740|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding||c.*566T>C|||||1849|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding||c.*705T>C|||||1887|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript||n.*589T>C|||||1912|,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript||n.*709T>C|||||1965|,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding||c.*731T>C|||||2420|,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay||n.*341T>C|||||2485|,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding||c.*567T>C|||||2518|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|5/5|n.2198T>C|||||| 22 22890792 . T C . . ANN=C|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|6/6|c.1227A>G|p.Thr409Thr|1534/2202|1227/1530|409/509||,C|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|6/6|c.1227A>G|p.Thr409Thr|1527/2196|1227/1530|409/509||,C|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|5/5|c.1227A>G|p.Thr409Thr|2090/2758|1227/1530|409/509||,C|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|6/6|c.1227A>G|p.Thr409Thr|1513/2179|1227/1530|409/509||,C|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|4/4|c.1179A>G|p.Thr393Thr|1559/2223|1179/1482|393/493||,C|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|6/6|c.1227A>G|p.Thr409Thr|1454/2057|1227/1530|409/509||,C|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|4/4|c.1179A>G|p.Thr393Thr|1297/1766|1179/1482|393/493||,C|sequence_feature|LOW|PRAME|ENSG00000185686|repeat:LRR_4|ENST00000402697|protein_coding|6/6|c.1227A>G||||||,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding||c.*891A>G|||||1704|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding||c.*566A>G|||||1813|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding||c.*705A>G|||||1851|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript||n.*589A>G|||||1876|,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript||n.*709A>G|||||1929|,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding||c.*731A>G|||||2384|,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay||n.*341A>G|||||2449|,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding||c.*567A>G|||||2482|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|5/5|n.2162A>G|||||| 22 22890869 . C T . . ANN=T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|6/6|c.1150G>A|p.Val384Ile|1457/2202|1150/1530|384/509||,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|6/6|c.1150G>A|p.Val384Ile|1450/2196|1150/1530|384/509||,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|5/5|c.1150G>A|p.Val384Ile|2013/2758|1150/1530|384/509||,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|6/6|c.1150G>A|p.Val384Ile|1436/2179|1150/1530|384/509||,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|4/4|c.1102G>A|p.Val368Ile|1482/2223|1102/1482|368/493||,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|6/6|c.1150G>A|p.Val384Ile|1377/2057|1150/1530|384/509||,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|4/4|c.1102G>A|p.Val368Ile|1220/1766|1102/1482|368/493||,T|sequence_feature|LOW|PRAME|ENSG00000185686|repeat:LRR_3|ENST00000402697|protein_coding|6/6|c.1150G>A||||||,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding||c.*891G>A|||||1627|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding||c.*566G>A|||||1736|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding||c.*705G>A|||||1774|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript||n.*589G>A|||||1799|,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript||n.*709G>A|||||1852|,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding||c.*731G>A|||||2307|,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay||n.*341G>A|||||2372|,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding||c.*567G>A|||||2405|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|5/5|n.2085G>A|||||| 22 22890903 . C G . . ANN=G|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|6/6|c.1116G>C|p.Leu372Leu|1423/2202|1116/1530|372/509||,G|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|6/6|c.1116G>C|p.Leu372Leu|1416/2196|1116/1530|372/509||,G|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|5/5|c.1116G>C|p.Leu372Leu|1979/2758|1116/1530|372/509||,G|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|6/6|c.1116G>C|p.Leu372Leu|1402/2179|1116/1530|372/509||,G|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|4/4|c.1068G>C|p.Leu356Leu|1448/2223|1068/1482|356/493||,G|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|6/6|c.1116G>C|p.Leu372Leu|1343/2057|1116/1530|372/509||,G|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|4/4|c.1068G>C|p.Leu356Leu|1186/1766|1068/1482|356/493||,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding||c.*891G>C|||||1593|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding||c.*566G>C|||||1702|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding||c.*705G>C|||||1740|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript||n.*589G>C|||||1765|,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript||n.*709G>C|||||1818|,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding||c.*731G>C|||||2273|,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay||n.*341G>C|||||2338|,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding||c.*567G>C|||||2371|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|5/5|n.2051G>C|||||| 22 22890933 . G A . . ANN=A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|6/6|c.1086C>T|p.Thr362Thr|1393/2202|1086/1530|362/509||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|6/6|c.1086C>T|p.Thr362Thr|1386/2196|1086/1530|362/509||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|5/5|c.1086C>T|p.Thr362Thr|1949/2758|1086/1530|362/509||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|6/6|c.1086C>T|p.Thr362Thr|1372/2179|1086/1530|362/509||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|4/4|c.1038C>T|p.Thr346Thr|1418/2223|1038/1482|346/493||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|6/6|c.1086C>T|p.Thr362Thr|1313/2057|1086/1530|362/509||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|4/4|c.1038C>T|p.Thr346Thr|1156/1766|1038/1482|346/493||,A|sequence_feature|LOW|PRAME|ENSG00000185686|repeat:LRR_2|ENST00000402697|protein_coding|6/6|c.1086C>T||||||,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding||c.*891C>T|||||1563|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding||c.*566C>T|||||1672|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding||c.*705C>T|||||1710|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript||n.*589C>T|||||1735|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript||n.*709C>T|||||1788|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding||c.*731C>T|||||2243|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay||n.*341C>T|||||2308|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding||c.*567C>T|||||2341|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|5/5|n.2021C>T|||||| 22 22890941 . T G . . ANN=G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|6/6|c.1078A>C|p.Met360Leu|1385/2202|1078/1530|360/509||,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|6/6|c.1078A>C|p.Met360Leu|1378/2196|1078/1530|360/509||,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|5/5|c.1078A>C|p.Met360Leu|1941/2758|1078/1530|360/509||,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|6/6|c.1078A>C|p.Met360Leu|1364/2179|1078/1530|360/509||,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|4/4|c.1030A>C|p.Met344Leu|1410/2223|1030/1482|344/493||,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|6/6|c.1078A>C|p.Met360Leu|1305/2057|1078/1530|360/509||,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|4/4|c.1030A>C|p.Met344Leu|1148/1766|1030/1482|344/493||,G|sequence_feature|LOW|PRAME|ENSG00000185686|repeat:LRR_2|ENST00000402697|protein_coding|6/6|c.1078A>C||||||,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding||c.*891A>C|||||1555|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding||c.*566A>C|||||1664|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding||c.*705A>C|||||1702|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript||n.*589A>C|||||1727|,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript||n.*709A>C|||||1780|,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding||c.*731A>C|||||2235|,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay||n.*341A>C|||||2300|,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding||c.*567A>C|||||2333|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|5/5|n.2013A>C|||||| 22 22891014 . C T . . ANN=T|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|6/6|c.1005G>A|p.Ser335Ser|1312/2202|1005/1530|335/509||,T|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|6/6|c.1005G>A|p.Ser335Ser|1305/2196|1005/1530|335/509||,T|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|5/5|c.1005G>A|p.Ser335Ser|1868/2758|1005/1530|335/509||,T|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|6/6|c.1005G>A|p.Ser335Ser|1291/2179|1005/1530|335/509||,T|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|4/4|c.957G>A|p.Ser319Ser|1337/2223|957/1482|319/493||,T|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|6/6|c.1005G>A|p.Ser335Ser|1232/2057|1005/1530|335/509||,T|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|4/4|c.957G>A|p.Ser319Ser|1075/1766|957/1482|319/493||,T|sequence_feature|LOW|PRAME|ENSG00000185686|repeat:LRR_1|ENST00000402697|protein_coding|6/6|c.1005G>A||||||,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding||c.*891G>A|||||1482|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding||c.*566G>A|||||1591|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding||c.*705G>A|||||1629|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript||n.*589G>A|||||1654|,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript||n.*709G>A|||||1707|,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding||c.*731G>A|||||2162|,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay||n.*341G>A|||||2227|,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding||c.*567G>A|||||2260|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|5/5|n.1940G>A|||||| 22 22891062 . G A . . ANN=A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|6/6|c.957C>T|p.His319His|1264/2202|957/1530|319/509||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|6/6|c.957C>T|p.His319His|1257/2196|957/1530|319/509||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|5/5|c.957C>T|p.His319His|1820/2758|957/1530|319/509||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|6/6|c.957C>T|p.His319His|1243/2179|957/1530|319/509||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|4/4|c.909C>T|p.His303His|1289/2223|909/1482|303/493||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|6/6|c.957C>T|p.His319His|1184/2057|957/1530|319/509||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|4/4|c.909C>T|p.His303His|1027/1766|909/1482|303/493||,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding||c.*891C>T|||||1434|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding||c.*566C>T|||||1543|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding||c.*705C>T|||||1581|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript||n.*589C>T|||||1606|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript||n.*709C>T|||||1659|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding||c.*731C>T|||||2114|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay||n.*341C>T|||||2179|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding||c.*567C>T|||||2212|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|5/5|n.1892C>T|||||| 22 22891081 . G T . . ANN=T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding||c.*891C>A|||||1415|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding||c.*566C>A|||||1524|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding||c.*705C>A|||||1562|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript||n.*589C>A|||||1587|,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript||n.*709C>A|||||1640|,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding||c.*731C>A|||||2095|,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay||n.*341C>A|||||2160|,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding||c.*567C>A|||||2193|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|5/5|c.954-16C>A||||||,T|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|5/5|c.954-16C>A||||||,T|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|4/4|n.1889-16C>A||||||,T|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|4/4|c.954-16C>A||||||,T|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|5/5|c.954-16C>A||||||,T|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|3/3|c.906-16C>A||||||,T|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|5/5|c.954-16C>A||||||,T|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|3/3|c.906-16C>A|||||| 22 22892195 . A G . . ANN=G|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|5/6|c.906T>C|p.Tyr302Tyr|1213/2202|906/1530|302/509||,G|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|5/6|c.906T>C|p.Tyr302Tyr|1206/2196|906/1530|302/509||,G|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|4/5|c.906T>C|p.Tyr302Tyr|1769/2758|906/1530|302/509||,G|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|5/6|c.906T>C|p.Tyr302Tyr|1192/2179|906/1530|302/509||,G|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|3/4|c.858T>C|p.Tyr286Tyr|1238/2223|858/1482|286/493||,G|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|5/6|c.906T>C|p.Tyr302Tyr|1133/2057|906/1530|302/509||,G|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|3/4|c.858T>C|p.Tyr286Tyr|976/1766|858/1482|286/493||,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding||c.*891T>C|||||301|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding||c.*566T>C|||||410|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding||c.*705T>C|||||448|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript||n.*589T>C|||||473|,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript||n.*709T>C|||||526|,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding||c.*731T>C|||||981|,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay||n.*341T>C|||||1046|,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding||c.*567T>C|||||1079|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|4/5|n.1841T>C|||||| 22 22892196 . T C . . ANN=C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|5/6|c.905A>G|p.Tyr302Cys|1212/2202|905/1530|302/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|5/6|c.905A>G|p.Tyr302Cys|1205/2196|905/1530|302/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|4/5|c.905A>G|p.Tyr302Cys|1768/2758|905/1530|302/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|5/6|c.905A>G|p.Tyr302Cys|1191/2179|905/1530|302/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|3/4|c.857A>G|p.Tyr286Cys|1237/2223|857/1482|286/493||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|5/6|c.905A>G|p.Tyr302Cys|1132/2057|905/1530|302/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|3/4|c.857A>G|p.Tyr286Cys|975/1766|857/1482|286/493||,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding||c.*891A>G|||||300|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding||c.*566A>G|||||409|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding||c.*705A>G|||||447|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript||n.*589A>G|||||472|,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript||n.*709A>G|||||525|,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding||c.*731A>G|||||980|,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay||n.*341A>G|||||1045|,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding||c.*567A>G|||||1078|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|4/5|n.1840A>G|||||| 22 22892255 . C T . . ANN=T|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|5/6|c.846G>A|p.Glu282Glu|1153/2202|846/1530|282/509||,T|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|5/6|c.846G>A|p.Glu282Glu|1146/2196|846/1530|282/509||,T|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|4/5|c.846G>A|p.Glu282Glu|1709/2758|846/1530|282/509||,T|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|5/6|c.846G>A|p.Glu282Glu|1132/2179|846/1530|282/509||,T|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|3/4|c.798G>A|p.Glu266Glu|1178/2223|798/1482|266/493||,T|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|5/6|c.846G>A|p.Glu282Glu|1073/2057|846/1530|282/509||,T|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|3/4|c.798G>A|p.Glu266Glu|916/1766|798/1482|266/493||,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding||c.*891G>A|||||241|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding||c.*566G>A|||||350|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding||c.*705G>A|||||388|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript||n.*589G>A|||||413|,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript||n.*709G>A|||||466|,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding||c.*731G>A|||||921|,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay||n.*341G>A|||||986|,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding||c.*567G>A|||||1019|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|4/5|n.1781G>A|||||| 22 22892268 . G A . . ANN=A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|5/6|c.833C>T|p.Pro278Leu|1140/2202|833/1530|278/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|5/6|c.833C>T|p.Pro278Leu|1133/2196|833/1530|278/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|4/5|c.833C>T|p.Pro278Leu|1696/2758|833/1530|278/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|5/6|c.833C>T|p.Pro278Leu|1119/2179|833/1530|278/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|3/4|c.785C>T|p.Pro262Leu|1165/2223|785/1482|262/493||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|5/6|c.833C>T|p.Pro278Leu|1060/2057|833/1530|278/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|3/4|c.785C>T|p.Pro262Leu|903/1766|785/1482|262/493||,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding||c.*891C>T|||||228|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding||c.*566C>T|||||337|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding||c.*705C>T|||||375|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript||n.*589C>T|||||400|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript||n.*709C>T|||||453|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding||c.*731C>T|||||908|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay||n.*341C>T|||||973|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding||c.*567C>T|||||1006|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|4/5|n.1768C>T|||||| 22 22892303 . G A . . ANN=A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|5/6|c.798C>T|p.Leu266Leu|1105/2202|798/1530|266/509||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|5/6|c.798C>T|p.Leu266Leu|1098/2196|798/1530|266/509||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|4/5|c.798C>T|p.Leu266Leu|1661/2758|798/1530|266/509||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|5/6|c.798C>T|p.Leu266Leu|1084/2179|798/1530|266/509||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|3/4|c.750C>T|p.Leu250Leu|1130/2223|750/1482|250/493||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|5/6|c.798C>T|p.Leu266Leu|1025/2057|798/1530|266/509||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|3/4|c.750C>T|p.Leu250Leu|868/1766|750/1482|250/493||,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding||c.*891C>T|||||193|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding||c.*566C>T|||||302|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding||c.*705C>T|||||340|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript||n.*589C>T|||||365|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript||n.*709C>T|||||418|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding||c.*731C>T|||||873|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay||n.*341C>T|||||938|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding||c.*567C>T|||||971|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|4/5|n.1733C>T|||||| 22 22892308 . G C . . ANN=C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|5/6|c.793C>G|p.Leu265Val|1100/2202|793/1530|265/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|5/6|c.793C>G|p.Leu265Val|1093/2196|793/1530|265/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|4/5|c.793C>G|p.Leu265Val|1656/2758|793/1530|265/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|5/6|c.793C>G|p.Leu265Val|1079/2179|793/1530|265/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|3/4|c.745C>G|p.Leu249Val|1125/2223|745/1482|249/493||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|5/6|c.793C>G|p.Leu265Val|1020/2057|793/1530|265/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|3/4|c.745C>G|p.Leu249Val|863/1766|745/1482|249/493||,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding||c.*891C>G|||||188|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding||c.*566C>G|||||297|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding||c.*705C>G|||||335|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript||n.*589C>G|||||360|,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript||n.*709C>G|||||413|,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding||c.*731C>G|||||868|,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay||n.*341C>G|||||933|,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding||c.*567C>G|||||966|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|4/5|n.1728C>G|||||| 22 22892314 . G A . . ANN=A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|5/6|c.787C>T|p.Arg263Cys|1094/2202|787/1530|263/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|5/6|c.787C>T|p.Arg263Cys|1087/2196|787/1530|263/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|4/5|c.787C>T|p.Arg263Cys|1650/2758|787/1530|263/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|5/6|c.787C>T|p.Arg263Cys|1073/2179|787/1530|263/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|3/4|c.739C>T|p.Arg247Cys|1119/2223|739/1482|247/493||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|5/6|c.787C>T|p.Arg263Cys|1014/2057|787/1530|263/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|3/4|c.739C>T|p.Arg247Cys|857/1766|739/1482|247/493||,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding||c.*891C>T|||||182|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding||c.*566C>T|||||291|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding||c.*705C>T|||||329|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript||n.*589C>T|||||354|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript||n.*709C>T|||||407|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding||c.*731C>T|||||862|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay||n.*341C>T|||||927|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding||c.*567C>T|||||960|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|4/5|n.1722C>T|||||| 22 22892335 . G A . . ANN=A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|5/6|c.766C>T|p.Leu256Leu|1073/2202|766/1530|256/509||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|5/6|c.766C>T|p.Leu256Leu|1066/2196|766/1530|256/509||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|4/5|c.766C>T|p.Leu256Leu|1629/2758|766/1530|256/509||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|5/6|c.766C>T|p.Leu256Leu|1052/2179|766/1530|256/509||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|3/4|c.718C>T|p.Leu240Leu|1098/2223|718/1482|240/493||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|5/6|c.766C>T|p.Leu256Leu|993/2057|766/1530|256/509||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|3/4|c.718C>T|p.Leu240Leu|836/1766|718/1482|240/493||,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding||c.*891C>T|||||161|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding||c.*566C>T|||||270|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding||c.*705C>T|||||308|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript||n.*589C>T|||||333|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript||n.*709C>T|||||386|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding||c.*731C>T|||||841|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay||n.*341C>T|||||906|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding||c.*567C>T|||||939|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|4/5|n.1701C>T|||||| 22 22892342 . A G . . ANN=G|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|5/6|c.759T>C|p.Ser253Ser|1066/2202|759/1530|253/509||,G|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|5/6|c.759T>C|p.Ser253Ser|1059/2196|759/1530|253/509||,G|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|4/5|c.759T>C|p.Ser253Ser|1622/2758|759/1530|253/509||,G|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|5/6|c.759T>C|p.Ser253Ser|1045/2179|759/1530|253/509||,G|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|3/4|c.711T>C|p.Ser237Ser|1091/2223|711/1482|237/493||,G|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|5/6|c.759T>C|p.Ser253Ser|986/2057|759/1530|253/509||,G|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|3/4|c.711T>C|p.Ser237Ser|829/1766|711/1482|237/493||,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding||c.*891T>C|||||154|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding||c.*566T>C|||||263|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding||c.*705T>C|||||301|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript||n.*589T>C|||||326|,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript||n.*709T>C|||||379|,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding||c.*731T>C|||||834|,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay||n.*341T>C|||||899|,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding||c.*567T>C|||||932|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|4/5|n.1694T>C|||||| 22 22892362 . G A . . ANN=A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|5/6|c.739C>T|p.Pro247Ser|1046/2202|739/1530|247/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|5/6|c.739C>T|p.Pro247Ser|1039/2196|739/1530|247/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|4/5|c.739C>T|p.Pro247Ser|1602/2758|739/1530|247/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|5/6|c.739C>T|p.Pro247Ser|1025/2179|739/1530|247/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|3/4|c.691C>T|p.Pro231Ser|1071/2223|691/1482|231/493||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|5/6|c.739C>T|p.Pro247Ser|966/2057|739/1530|247/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|3/4|c.691C>T|p.Pro231Ser|809/1766|691/1482|231/493||,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding||c.*891C>T|||||134|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding||c.*566C>T|||||243|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding||c.*705C>T|||||281|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript||n.*589C>T|||||306|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript||n.*709C>T|||||359|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding||c.*731C>T|||||814|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay||n.*341C>T|||||879|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding||c.*567C>T|||||912|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|4/5|n.1674C>T|||||| 22 22892449 . T C . . ANN=C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|5/6|c.652A>G|p.Met218Val|959/2202|652/1530|218/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|5/6|c.652A>G|p.Met218Val|952/2196|652/1530|218/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|4/5|c.652A>G|p.Met218Val|1515/2758|652/1530|218/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|5/6|c.652A>G|p.Met218Val|938/2179|652/1530|218/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|3/4|c.604A>G|p.Met202Val|984/2223|604/1482|202/493||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|5/6|c.652A>G|p.Met218Val|879/2057|652/1530|218/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|3/4|c.604A>G|p.Met202Val|722/1766|604/1482|202/493||,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding||c.*891A>G|||||47|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding||c.*566A>G|||||156|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding||c.*705A>G|||||194|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript||n.*589A>G|||||219|,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript||n.*709A>G|||||272|,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding||c.*731A>G|||||727|,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay||n.*341A>G|||||792|,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding||c.*567A>G|||||825|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|4/5|n.1587A>G|||||| 22 22892481 . C T . . ANN=T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|5/6|c.620G>A|p.Arg207His|927/2202|620/1530|207/509||,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|5/6|c.620G>A|p.Arg207His|920/2196|620/1530|207/509||,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|4/5|c.620G>A|p.Arg207His|1483/2758|620/1530|207/509||,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|5/6|c.620G>A|p.Arg207His|906/2179|620/1530|207/509||,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|3/4|c.572G>A|p.Arg191His|952/2223|572/1482|191/493||,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|5/6|c.620G>A|p.Arg207His|847/2057|620/1530|207/509||,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|3/4|c.572G>A|p.Arg191His|690/1766|572/1482|191/493||,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding||c.*891G>A|||||15|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding||c.*566G>A|||||124|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding||c.*705G>A|||||162|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript||n.*589G>A|||||187|,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript||n.*709G>A|||||240|,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding||c.*731G>A|||||695|,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay||n.*341G>A|||||760|,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding||c.*567G>A|||||793|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|4/5|n.1555G>A|||||| 22 22892490 . T C . . ANN=C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|5/6|c.611A>G|p.Asn204Ser|918/2202|611/1530|204/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|5/6|c.611A>G|p.Asn204Ser|911/2196|611/1530|204/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|4/5|c.611A>G|p.Asn204Ser|1474/2758|611/1530|204/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|5/6|c.611A>G|p.Asn204Ser|897/2179|611/1530|204/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|3/4|c.563A>G|p.Asn188Ser|943/2223|563/1482|188/493||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|5/6|c.611A>G|p.Asn204Ser|838/2057|611/1530|204/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|3/4|c.563A>G|p.Asn188Ser|681/1766|563/1482|188/493||,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding||c.*891A>G|||||6|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding||c.*566A>G|||||115|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding||c.*705A>G|||||153|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript||n.*589A>G|||||178|,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript||n.*709A>G|||||231|,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding||c.*731A>G|||||686|,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay||n.*341A>G|||||751|,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding||c.*567A>G|||||784|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|4/5|n.1546A>G|||||| 22 22892514 . A G . . ANN=G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|5/6|c.587T>C|p.Ile196Thr|894/2202|587/1530|196/509||,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|5/6|c.587T>C|p.Ile196Thr|887/2196|587/1530|196/509||,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|4/5|c.587T>C|p.Ile196Thr|1450/2758|587/1530|196/509||,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|5/6|c.587T>C|p.Ile196Thr|873/2179|587/1530|196/509||,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|3/4|c.539T>C|p.Ile180Thr|919/2223|539/1482|180/493||,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|5/6|c.587T>C|p.Ile196Thr|814/2057|587/1530|196/509||,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|3/4|c.539T>C|p.Ile180Thr|657/1766|539/1482|180/493||,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding|5/5|c.587T>C|p.Ile196Thr|873/891|587/605|196/200||WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding||c.*566T>C|||||91|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding||c.*705T>C|||||129|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript||n.*589T>C|||||154|,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript||n.*709T>C|||||207|,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding||c.*731T>C|||||662|,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay||n.*341T>C|||||727|,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding||c.*567T>C|||||760|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|4/5|n.1522T>C|||||| 22 22892556 . A G . . ANN=G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|5/6|c.545T>C|p.Phe182Ser|852/2202|545/1530|182/509||,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|5/6|c.545T>C|p.Phe182Ser|845/2196|545/1530|182/509||,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|4/5|c.545T>C|p.Phe182Ser|1408/2758|545/1530|182/509||,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|5/6|c.545T>C|p.Phe182Ser|831/2179|545/1530|182/509||,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|3/4|c.497T>C|p.Phe166Ser|877/2223|497/1482|166/493||,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|5/6|c.545T>C|p.Phe182Ser|772/2057|545/1530|182/509||,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|3/4|c.497T>C|p.Phe166Ser|615/1766|497/1482|166/493||,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding|5/5|c.545T>C|p.Phe182Ser|831/891|545/605|182/200||WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding||c.*566T>C|||||49|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding||c.*705T>C|||||87|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript||n.*589T>C|||||112|,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript||n.*709T>C|||||165|,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding||c.*731T>C|||||620|,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay||n.*341T>C|||||685|,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding||c.*567T>C|||||718|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|4/5|n.1480T>C|||||| 22 22892615 . A G . . ANN=G|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|5/6|c.486T>C|p.Asp162Asp|793/2202|486/1530|162/509||,G|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|5/6|c.486T>C|p.Asp162Asp|786/2196|486/1530|162/509||,G|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|4/5|c.486T>C|p.Asp162Asp|1349/2758|486/1530|162/509||,G|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|5/6|c.486T>C|p.Asp162Asp|772/2179|486/1530|162/509||,G|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|3/4|c.438T>C|p.Asp146Asp|818/2223|438/1482|146/493||,G|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|5/6|c.486T>C|p.Asp162Asp|713/2057|486/1530|162/509||,G|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|3/4|c.438T>C|p.Asp146Asp|556/1766|438/1482|146/493||,G|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding|5/5|c.486T>C|p.Asp162Asp|772/891|486/605|162/200||WARNING_TRANSCRIPT_INCOMPLETE,G|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding|3/3|c.555T>C|p.Asp185Asp|556/566|555/565|185/187||WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding||c.*705T>C|||||28|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript||n.*589T>C|||||53|,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript||n.*709T>C|||||106|,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding||c.*731T>C|||||561|,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay||n.*341T>C|||||626|,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding||c.*567T>C|||||659|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|4/5|n.1421T>C|||||| 22 22892775 . A G . . ANN=G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding||c.*731T>C|||||401|,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay||n.*341T>C|||||466|,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding||c.*567T>C|||||499|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|4/5|c.345-19T>C||||||,G|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|4/5|c.345-19T>C||||||,G|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|3/4|n.1280-19T>C||||||,G|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|3/4|c.345-19T>C||||||,G|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|4/5|c.345-19T>C||||||,G|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|2/3|c.297-19T>C||||||,G|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|4/5|c.345-19T>C||||||,G|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|2/3|c.297-19T>C||||||,G|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding|4/4|c.345-19T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding|2/2|c.414-19T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding|4/4|c.345-19T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript|2/2|n.501-19T>C||||||,G|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript|2/2|n.674-19T>C|||||| 22 22892800 . T G . . ANN=G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding||c.*731A>C|||||376|,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay||n.*341A>C|||||441|,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding||c.*567A>C|||||474|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|4/5|c.345-44A>C||||||,G|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|4/5|c.345-44A>C||||||,G|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|3/4|n.1280-44A>C||||||,G|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|3/4|c.345-44A>C||||||,G|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|4/5|c.345-44A>C||||||,G|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|2/3|c.297-44A>C||||||,G|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|4/5|c.345-44A>C||||||,G|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|2/3|c.297-44A>C||||||,G|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding|4/4|c.345-44A>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding|2/2|c.414-44A>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding|4/4|c.345-44A>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript|2/2|n.501-44A>C||||||,G|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript|2/2|n.674-44A>C|||||| 22 22893166 . C T . . ANN=T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding||c.*731G>A|||||10|,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay||n.*341G>A|||||75|,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding||c.*567G>A|||||108|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|4/5|c.344+23G>A||||||,T|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|4/5|c.344+23G>A||||||,T|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|3/4|n.1279+23G>A||||||,T|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|3/4|c.344+23G>A||||||,T|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|4/5|c.344+23G>A||||||,T|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|2/3|c.296+23G>A||||||,T|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|4/5|c.344+23G>A||||||,T|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|2/3|c.296+23G>A||||||,T|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding|4/4|c.344+23G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding|2/2|c.413+23G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding|4/4|c.344+23G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript|2/2|n.500+23G>A||||||,T|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript|2/2|n.673+23G>A|||||| 22 22893196 . G A . . ANN=A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|4/6|c.337C>T|p.Arg113Cys|644/2202|337/1530|113/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|4/6|c.337C>T|p.Arg113Cys|637/2196|337/1530|113/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|3/5|c.337C>T|p.Arg113Cys|1200/2758|337/1530|113/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|4/6|c.337C>T|p.Arg113Cys|623/2179|337/1530|113/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|2/4|c.289C>T|p.Arg97Cys|669/2223|289/1482|97/493||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|4/6|c.337C>T|p.Arg113Cys|564/2057|337/1530|113/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|2/4|c.289C>T|p.Arg97Cys|407/1766|289/1482|97/493||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding|4/5|c.337C>T|p.Arg113Cys|623/891|337/605|113/200||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding|2/3|c.406C>T|p.Arg136Cys|407/566|406/565|136/187||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding|4/5|c.337C>T|p.Arg113Cys|584/705|337/458|113/151||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding|4/4|c.337C>T|p.Arg113Cys|720/740|337/348|113/115||,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay||n.*341C>T|||||45|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding||c.*567C>T|||||78|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|3/5|n.1272C>T||||||,A|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript|2/3|n.493C>T||||||,A|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript|2/3|n.666C>T|||||| 22 22893297 . G A . . ANN=A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|4/6|c.236C>T|p.Thr79Ile|543/2202|236/1530|79/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|4/6|c.236C>T|p.Thr79Ile|536/2196|236/1530|79/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|3/5|c.236C>T|p.Thr79Ile|1099/2758|236/1530|79/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|4/6|c.236C>T|p.Thr79Ile|522/2179|236/1530|79/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|2/4|c.188C>T|p.Thr63Ile|568/2223|188/1482|63/493||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|4/6|c.236C>T|p.Thr79Ile|463/2057|236/1530|79/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|2/4|c.188C>T|p.Thr63Ile|306/1766|188/1482|63/493||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding|4/5|c.236C>T|p.Thr79Ile|522/891|236/605|79/200||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding|2/3|c.305C>T|p.Thr102Ile|306/566|305/565|102/187||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding|4/5|c.236C>T|p.Thr79Ile|483/705|236/458|79/151||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding|4/4|c.236C>T|p.Thr79Ile|619/740|236/348|79/115||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding|3/3|c.236C>T|p.Thr79Ile|544/567|236/259|79/85||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay|4/4|n.*184C>T|||||184|,A|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|3/5|n.1171C>T||||||,A|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript|2/3|n.392C>T||||||,A|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript|2/3|n.565C>T||||||,A|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay|4/4|n.*184C>T|||||| 22 22893335 . G A . . ANN=A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|4/6|c.198C>T|p.Ser66Ser|505/2202|198/1530|66/509||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|4/6|c.198C>T|p.Ser66Ser|498/2196|198/1530|66/509||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|3/5|c.198C>T|p.Ser66Ser|1061/2758|198/1530|66/509||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|4/6|c.198C>T|p.Ser66Ser|484/2179|198/1530|66/509||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|2/4|c.150C>T|p.Ser50Ser|530/2223|150/1482|50/493||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|4/6|c.198C>T|p.Ser66Ser|425/2057|198/1530|66/509||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|2/4|c.150C>T|p.Ser50Ser|268/1766|150/1482|50/493||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding|4/5|c.198C>T|p.Ser66Ser|484/891|198/605|66/200||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding|2/3|c.267C>T|p.Ser89Ser|268/566|267/565|89/187||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding|4/5|c.198C>T|p.Ser66Ser|445/705|198/458|66/151||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding|4/4|c.198C>T|p.Ser66Ser|581/740|198/348|66/115||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding|3/3|c.198C>T|p.Ser66Ser|506/567|198/259|66/85||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay|4/4|n.*146C>T|||||146|,A|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|3/5|n.1133C>T||||||,A|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript|2/3|n.354C>T||||||,A|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript|2/3|n.527C>T||||||,A|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay|4/4|n.*146C>T|||||| 22 22893347 . G A . . ANN=A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|4/6|c.186C>T|p.Asp62Asp|493/2202|186/1530|62/509||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|4/6|c.186C>T|p.Asp62Asp|486/2196|186/1530|62/509||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|3/5|c.186C>T|p.Asp62Asp|1049/2758|186/1530|62/509||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|4/6|c.186C>T|p.Asp62Asp|472/2179|186/1530|62/509||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|2/4|c.138C>T|p.Asp46Asp|518/2223|138/1482|46/493||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|4/6|c.186C>T|p.Asp62Asp|413/2057|186/1530|62/509||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|2/4|c.138C>T|p.Asp46Asp|256/1766|138/1482|46/493||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding|4/5|c.186C>T|p.Asp62Asp|472/891|186/605|62/200||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding|2/3|c.255C>T|p.Asp85Asp|256/566|255/565|85/187||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding|4/5|c.186C>T|p.Asp62Asp|433/705|186/458|62/151||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding|4/4|c.186C>T|p.Asp62Asp|569/740|186/348|62/115||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding|3/3|c.186C>T|p.Asp62Asp|494/567|186/259|62/85||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay|4/4|n.*134C>T|||||134|,A|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|3/5|n.1121C>T||||||,A|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript|2/3|n.342C>T||||||,A|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript|2/3|n.515C>T||||||,A|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay|4/4|n.*134C>T|||||| 22 22893392 . C G . . ANN=G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|4/6|c.141G>C|p.Leu47Phe|448/2202|141/1530|47/509||,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|4/6|c.141G>C|p.Leu47Phe|441/2196|141/1530|47/509||,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|3/5|c.141G>C|p.Leu47Phe|1004/2758|141/1530|47/509||,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|4/6|c.141G>C|p.Leu47Phe|427/2179|141/1530|47/509||,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|2/4|c.93G>C|p.Leu31Phe|473/2223|93/1482|31/493||,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|4/6|c.141G>C|p.Leu47Phe|368/2057|141/1530|47/509||,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|2/4|c.93G>C|p.Leu31Phe|211/1766|93/1482|31/493||,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding|4/5|c.141G>C|p.Leu47Phe|427/891|141/605|47/200||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding|2/3|c.210G>C|p.Leu70Phe|211/566|210/565|70/187||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding|4/5|c.141G>C|p.Leu47Phe|388/705|141/458|47/151||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding|4/4|c.141G>C|p.Leu47Phe|524/740|141/348|47/115||,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding|3/3|c.141G>C|p.Leu47Phe|449/567|141/259|47/85||WARNING_TRANSCRIPT_INCOMPLETE,G|3_prime_UTR_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay|4/4|n.*89G>C|||||89|,G|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|3/5|n.1076G>C||||||,G|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript|2/3|n.297G>C||||||,G|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript|2/3|n.470G>C||||||,G|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay|4/4|n.*89G>C|||||| 22 22893394 . A T . . ANN=T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|4/6|c.139T>A|p.Leu47Met|446/2202|139/1530|47/509||,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|4/6|c.139T>A|p.Leu47Met|439/2196|139/1530|47/509||,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|3/5|c.139T>A|p.Leu47Met|1002/2758|139/1530|47/509||,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|4/6|c.139T>A|p.Leu47Met|425/2179|139/1530|47/509||,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|2/4|c.91T>A|p.Leu31Met|471/2223|91/1482|31/493||,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|4/6|c.139T>A|p.Leu47Met|366/2057|139/1530|47/509||,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|2/4|c.91T>A|p.Leu31Met|209/1766|91/1482|31/493||,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding|4/5|c.139T>A|p.Leu47Met|425/891|139/605|47/200||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding|2/3|c.208T>A|p.Leu70Met|209/566|208/565|70/187||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding|4/5|c.139T>A|p.Leu47Met|386/705|139/458|47/151||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding|4/4|c.139T>A|p.Leu47Met|522/740|139/348|47/115||,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding|3/3|c.139T>A|p.Leu47Met|447/567|139/259|47/85||WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay|4/4|n.*87T>A|||||87|,T|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|3/5|n.1074T>A||||||,T|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript|2/3|n.295T>A||||||,T|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript|2/3|n.468T>A||||||,T|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay|4/4|n.*87T>A|||||| 22 22893403 . C T . . ANN=T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|4/6|c.130G>A|p.Ala44Thr|437/2202|130/1530|44/509||,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|4/6|c.130G>A|p.Ala44Thr|430/2196|130/1530|44/509||,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|3/5|c.130G>A|p.Ala44Thr|993/2758|130/1530|44/509||,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|4/6|c.130G>A|p.Ala44Thr|416/2179|130/1530|44/509||,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|2/4|c.82G>A|p.Ala28Thr|462/2223|82/1482|28/493||,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|4/6|c.130G>A|p.Ala44Thr|357/2057|130/1530|44/509||,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|2/4|c.82G>A|p.Ala28Thr|200/1766|82/1482|28/493||,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding|4/5|c.130G>A|p.Ala44Thr|416/891|130/605|44/200||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding|2/3|c.199G>A|p.Ala67Thr|200/566|199/565|67/187||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding|4/5|c.130G>A|p.Ala44Thr|377/705|130/458|44/151||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding|4/4|c.130G>A|p.Ala44Thr|513/740|130/348|44/115||,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding|3/3|c.130G>A|p.Ala44Thr|438/567|130/259|44/85||WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay|4/4|n.*78G>A|||||78|,T|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|3/5|n.1065G>A||||||,T|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript|2/3|n.286G>A||||||,T|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript|2/3|n.459G>A||||||,T|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay|4/4|n.*78G>A|||||| 22 22893404 . G A . . ANN=A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|4/6|c.129C>T|p.Ala43Ala|436/2202|129/1530|43/509||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|4/6|c.129C>T|p.Ala43Ala|429/2196|129/1530|43/509||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|3/5|c.129C>T|p.Ala43Ala|992/2758|129/1530|43/509||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|4/6|c.129C>T|p.Ala43Ala|415/2179|129/1530|43/509||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|2/4|c.81C>T|p.Ala27Ala|461/2223|81/1482|27/493||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|4/6|c.129C>T|p.Ala43Ala|356/2057|129/1530|43/509||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|2/4|c.81C>T|p.Ala27Ala|199/1766|81/1482|27/493||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding|4/5|c.129C>T|p.Ala43Ala|415/891|129/605|43/200||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding|2/3|c.198C>T|p.Ala66Ala|199/566|198/565|66/187||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding|4/5|c.129C>T|p.Ala43Ala|376/705|129/458|43/151||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding|4/4|c.129C>T|p.Ala43Ala|512/740|129/348|43/115||,A|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding|3/3|c.129C>T|p.Ala43Ala|437/567|129/259|43/85||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay|4/4|n.*77C>T|||||77|,A|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|3/5|n.1064C>T||||||,A|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript|2/3|n.285C>T||||||,A|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript|2/3|n.458C>T||||||,A|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay|4/4|n.*77C>T|||||| 22 22893410 . G T . . ANN=T|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|4/6|c.123C>A|p.Ala41Ala|430/2202|123/1530|41/509||,T|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|4/6|c.123C>A|p.Ala41Ala|423/2196|123/1530|41/509||,T|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|3/5|c.123C>A|p.Ala41Ala|986/2758|123/1530|41/509||,T|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|4/6|c.123C>A|p.Ala41Ala|409/2179|123/1530|41/509||,T|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|2/4|c.75C>A|p.Ala25Ala|455/2223|75/1482|25/493||,T|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|4/6|c.123C>A|p.Ala41Ala|350/2057|123/1530|41/509||,T|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|2/4|c.75C>A|p.Ala25Ala|193/1766|75/1482|25/493||,T|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding|4/5|c.123C>A|p.Ala41Ala|409/891|123/605|41/200||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding|2/3|c.192C>A|p.Ala64Ala|193/566|192/565|64/187||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding|4/5|c.123C>A|p.Ala41Ala|370/705|123/458|41/151||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding|4/4|c.123C>A|p.Ala41Ala|506/740|123/348|41/115||,T|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding|3/3|c.123C>A|p.Ala41Ala|431/567|123/259|41/85||WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay|4/4|n.*71C>A|||||71|,T|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|3/5|n.1058C>A||||||,T|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript|2/3|n.279C>A||||||,T|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript|2/3|n.452C>A||||||,T|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay|4/4|n.*71C>A|||||| 22 22893463 . G A,C,T . . ANN=A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|4/6|c.70C>T|p.Arg24Trp|377/2202|70/1530|24/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|4/6|c.70C>G|p.Arg24Gly|377/2202|70/1530|24/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|4/6|c.70C>T|p.Arg24Trp|370/2196|70/1530|24/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|4/6|c.70C>G|p.Arg24Gly|370/2196|70/1530|24/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|3/5|c.70C>T|p.Arg24Trp|933/2758|70/1530|24/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|3/5|c.70C>G|p.Arg24Gly|933/2758|70/1530|24/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|4/6|c.70C>T|p.Arg24Trp|356/2179|70/1530|24/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|4/6|c.70C>G|p.Arg24Gly|356/2179|70/1530|24/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|2/4|c.22C>T|p.Arg8Trp|402/2223|22/1482|8/493||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|2/4|c.22C>G|p.Arg8Gly|402/2223|22/1482|8/493||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|4/6|c.70C>T|p.Arg24Trp|297/2057|70/1530|24/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|4/6|c.70C>G|p.Arg24Gly|297/2057|70/1530|24/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|2/4|c.22C>T|p.Arg8Trp|140/1766|22/1482|8/493||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|2/4|c.22C>G|p.Arg8Gly|140/1766|22/1482|8/493||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding|4/5|c.70C>T|p.Arg24Trp|356/891|70/605|24/200||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding|4/5|c.70C>G|p.Arg24Gly|356/891|70/605|24/200||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding|2/3|c.139C>T|p.Arg47Trp|140/566|139/565|47/187||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding|2/3|c.139C>G|p.Arg47Gly|140/566|139/565|47/187||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding|4/5|c.70C>T|p.Arg24Trp|317/705|70/458|24/151||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding|4/5|c.70C>G|p.Arg24Gly|317/705|70/458|24/151||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding|4/4|c.70C>T|p.Arg24Trp|453/740|70/348|24/115||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding|4/4|c.70C>G|p.Arg24Gly|453/740|70/348|24/115||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding|3/3|c.70C>T|p.Arg24Trp|378/567|70/259|24/85||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding|3/3|c.70C>G|p.Arg24Gly|378/567|70/259|24/85||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|4/6|c.70C>A|p.Arg24Arg|377/2202|70/1530|24/509||,T|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|4/6|c.70C>A|p.Arg24Arg|370/2196|70/1530|24/509||,T|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|3/5|c.70C>A|p.Arg24Arg|933/2758|70/1530|24/509||,T|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|4/6|c.70C>A|p.Arg24Arg|356/2179|70/1530|24/509||,T|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|2/4|c.22C>A|p.Arg8Arg|402/2223|22/1482|8/493||,T|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|4/6|c.70C>A|p.Arg24Arg|297/2057|70/1530|24/509||,T|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|2/4|c.22C>A|p.Arg8Arg|140/1766|22/1482|8/493||,T|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding|4/5|c.70C>A|p.Arg24Arg|356/891|70/605|24/200||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding|2/3|c.139C>A|p.Arg47Arg|140/566|139/565|47/187||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding|4/5|c.70C>A|p.Arg24Arg|317/705|70/458|24/151||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding|4/4|c.70C>A|p.Arg24Arg|453/740|70/348|24/115||,T|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding|3/3|c.70C>A|p.Arg24Arg|378/567|70/259|24/85||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay|4/4|n.*18C>T|||||18|,C|3_prime_UTR_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay|4/4|n.*18C>G|||||18|,T|3_prime_UTR_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay|4/4|n.*18C>A|||||18|,A|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|3/5|n.1005C>T||||||,C|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|3/5|n.1005C>G||||||,T|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|3/5|n.1005C>A||||||,A|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript|2/3|n.226C>T||||||,C|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript|2/3|n.226C>G||||||,T|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript|2/3|n.226C>A||||||,A|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript|2/3|n.399C>T||||||,C|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript|2/3|n.399C>G||||||,T|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript|2/3|n.399C>A||||||,A|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay|4/4|n.*18C>T||||||,C|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay|4/4|n.*18C>G||||||,T|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay|4/4|n.*18C>A|||||| 22 22893523 . T C . . ANN=C|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|3/5|c.22-12A>G||||||,C|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|3/5|c.22-12A>G||||||,C|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|2/4|n.957-12A>G||||||,C|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|2/4|c.22-12A>G||||||,C|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|3/5|c.22-12A>G||||||,C|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|1/3|c.-27-12A>G||||||,C|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|3/5|c.22-12A>G||||||,C|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|1/3|c.-27-12A>G||||||,C|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding|3/4|c.22-12A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding|1/2|c.91-12A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding|3/4|c.22-12A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript|1/2|n.178-12A>G||||||,C|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript|1/2|n.351-12A>G||||||,C|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding|3/3|c.22-12A>G||||||,C|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay|3/3|n.165-12A>G||||||,C|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding|2/2|c.22-12A>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 22899189 . G C . . ANN=C|upstream_gene_variant|MODIFIER|LL22NC03-63E9.3|ENSG00000220891|transcript|ENST00000407120|protein_coding||c.-26G>C|||||2561|,C|upstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding||c.-381C>G|||||2586|,C|upstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding||c.-119C>G|||||842|,C|upstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding||c.-2C>G|||||842|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript||n.-1C>G|||||2589|,C|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|3/5|c.21+43C>G||||||,C|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|3/5|c.21+43C>G||||||,C|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|2/4|n.956+43C>G||||||,C|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|2/4|c.21+43C>G||||||,C|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|3/5|c.21+43C>G||||||,C|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|3/5|c.21+43C>G||||||,C|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding|3/4|c.21+43C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding|3/4|c.21+43C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript|1/2|n.177+776C>G||||||,C|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding|3/3|c.21+43C>G||||||,C|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay|2/3|n.21+43C>G||||||,C|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding|2/2|c.21+43C>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 22899234 . A G . . ANN=G|missense_variant&splice_region_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|3/6|c.19T>C|p.Trp7Arg|326/2202|19/1530|7/509||,G|missense_variant&splice_region_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|3/6|c.19T>C|p.Trp7Arg|319/2196|19/1530|7/509||,G|missense_variant&splice_region_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|2/5|c.19T>C|p.Trp7Arg|882/2758|19/1530|7/509||,G|missense_variant&splice_region_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|3/6|c.19T>C|p.Trp7Arg|305/2179|19/1530|7/509||,G|missense_variant&splice_region_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|3/6|c.19T>C|p.Trp7Arg|246/2057|19/1530|7/509||,G|missense_variant&splice_region_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding|3/5|c.19T>C|p.Trp7Arg|305/891|19/605|7/200||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant&splice_region_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding|3/5|c.19T>C|p.Trp7Arg|266/705|19/458|7/151||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant&splice_region_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding|3/4|c.19T>C|p.Trp7Arg|402/740|19/348|7/115||,G|missense_variant&splice_region_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding|2/3|c.19T>C|p.Trp7Arg|327/567|19/259|7/85||WARNING_TRANSCRIPT_INCOMPLETE,G|splice_region_variant&non_coding_exon_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|2/5|n.954T>C||||||,G|splice_region_variant&non_coding_exon_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay|2/4|n.19T>C||||||,G|upstream_gene_variant|MODIFIER|LL22NC03-63E9.3|ENSG00000220891|transcript|ENST00000407120|protein_coding||c.-26A>G|||||2516|,G|upstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding||c.-381T>C|||||2631|,G|upstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding||c.-119T>C|||||887|,G|upstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding||c.-2T>C|||||887|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript||n.-1T>C|||||2634|,G|intron_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript|1/2|n.177+731T>C|||||| 22 23401684 . G T . . ANN=T|synonymous_variant|LOW|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|7/7|c.1003C>A|p.Arg335Arg|1200/1291|1003/1047|335/348|| 22 23401696 . C T . . ANN=T|missense_variant|MODERATE|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|7/7|c.991G>A|p.Glu331Lys|1188/1291|991/1047|331/348|| 22 23401750 . C T . . ANN=T|missense_variant|MODERATE|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|7/7|c.937G>A|p.Val313Met|1134/1291|937/1047|313/348|| 22 23401770 . C T . . ANN=T|missense_variant|MODERATE|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|7/7|c.917G>A|p.Arg306His|1114/1291|917/1047|306/348|| 22 23401775 . C T . . ANN=T|synonymous_variant|LOW|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|7/7|c.912G>A|p.Glu304Glu|1109/1291|912/1047|304/348|| 22 23401822 . G A . . ANN=A|missense_variant|MODERATE|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|7/7|c.865C>T|p.Arg289Cys|1062/1291|865/1047|289/348|| 22 23401865 . G T . . ANN=T|synonymous_variant|LOW|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|7/7|c.822C>A|p.Ile274Ile|1019/1291|822/1047|274/348|| 22 23401917 . G A . . ANN=A|intron_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|6/6|c.791-21C>T|||||| 22 23401918 . C T . . ANN=T|intron_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|6/6|c.791-22G>A|||||| 22 23403947 . G A . . ANN=A|intron_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|6/6|c.790+40C>T|||||| 22 23403967 . G A . . ANN=A|intron_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|6/6|c.790+20C>T|||||| 22 23403976 . C T . . ANN=T|intron_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|6/6|c.790+11G>A|||||| 22 23404038 . C T . . ANN=T|missense_variant|MODERATE|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|6/7|c.739G>A|p.Val247Met|936/1291|739/1047|247/348|| 22 23406059 . C G . . ANN=G|intron_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|5/6|c.653+21G>C|||||| 22 23406099 . G A . . ANN=A|missense_variant|MODERATE|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|5/7|c.634C>T|p.Arg212Cys|831/1291|634/1047|212/348|| 22 23406103 . G A . . ANN=A|synonymous_variant|LOW|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|5/7|c.630C>T|p.Ala210Ala|827/1291|630/1047|210/348|| 22 23406130 . G A . . ANN=A|synonymous_variant|LOW|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|5/7|c.603C>T|p.Ser201Ser|800/1291|603/1047|201/348|| 22 23406180 . C G . . ANN=G|missense_variant|MODERATE|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|5/7|c.553G>C|p.Glu185Gln|750/1291|553/1047|185/348|| 22 23406182 . G A . . ANN=A|missense_variant|MODERATE|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|5/7|c.551C>T|p.Thr184Ile|748/1291|551/1047|184/348|| 22 23406302 . T C . . ANN=C|missense_variant|MODERATE|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|5/7|c.431A>G|p.Glu144Gly|628/1291|431/1047|144/348|| 22 23406339 . C A . . ANN=A|intron_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|4/6|c.422-28G>T|||||| 22 23406340 . G A . . ANN=A|intron_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|4/6|c.422-29C>T|||||| 22 23437944 . G A . . ANN=A|missense_variant|MODERATE|GNAZ|ENSG00000128266|transcript|ENST00000248996|protein_coding|2/3|c.62G>A|p.Arg21His|728/3340|62/1068|21/355||,A|downstream_gene_variant|MODIFIER|GNAZ|ENSG00000128266|transcript|ENST00000492538|processed_transcript||n.*652G>A|||||41|,A|intron_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|4/6|c.422-31633C>T|||||| 22 23438116 . C T . . ANN=T|synonymous_variant|LOW|GNAZ|ENSG00000128266|transcript|ENST00000248996|protein_coding|2/3|c.234C>T|p.Ile78Ile|900/3340|234/1068|78/355||,T|downstream_gene_variant|MODIFIER|GNAZ|ENSG00000128266|transcript|ENST00000492538|processed_transcript||n.*652C>T|||||213|,T|intron_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|4/6|c.422-31805G>A|||||| 22 23438191 . C T . . ANN=T|synonymous_variant|LOW|GNAZ|ENSG00000128266|transcript|ENST00000248996|protein_coding|2/3|c.309C>T|p.Asp103Asp|975/3340|309/1068|103/355||,T|downstream_gene_variant|MODIFIER|GNAZ|ENSG00000128266|transcript|ENST00000492538|processed_transcript||n.*652C>T|||||288|,T|intron_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|4/6|c.422-31880G>A|||||| 22 23438192 . G T . . ANN=T|missense_variant|MODERATE|GNAZ|ENSG00000128266|transcript|ENST00000248996|protein_coding|2/3|c.310G>T|p.Ala104Ser|976/3340|310/1068|104/355||,T|downstream_gene_variant|MODIFIER|GNAZ|ENSG00000128266|transcript|ENST00000492538|processed_transcript||n.*652G>T|||||289|,T|intron_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|4/6|c.422-31881C>A|||||| 22 23438193 . C T . . ANN=T|missense_variant|MODERATE|GNAZ|ENSG00000128266|transcript|ENST00000248996|protein_coding|2/3|c.311C>T|p.Ala104Val|977/3340|311/1068|104/355||,T|downstream_gene_variant|MODIFIER|GNAZ|ENSG00000128266|transcript|ENST00000492538|processed_transcript||n.*652C>T|||||290|,T|intron_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|4/6|c.422-31882G>A|||||| 22 23438340 . C T . . ANN=T|missense_variant|MODERATE|GNAZ|ENSG00000128266|transcript|ENST00000248996|protein_coding|2/3|c.458C>T|p.Ala153Val|1124/3340|458/1068|153/355||,T|downstream_gene_variant|MODIFIER|GNAZ|ENSG00000128266|transcript|ENST00000492538|processed_transcript||n.*652C>T|||||437|,T|intron_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|4/6|c.422-32029G>A|||||| 22 23438431 . G T . . ANN=T|synonymous_variant|LOW|GNAZ|ENSG00000128266|transcript|ENST00000248996|protein_coding|2/3|c.549G>T|p.Thr183Thr|1215/3340|549/1068|183/355||,T|downstream_gene_variant|MODIFIER|GNAZ|ENSG00000128266|transcript|ENST00000492538|processed_transcript||n.*652G>T|||||528|,T|intron_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|4/6|c.422-32120C>A|||||| 22 23438488 . G C . . ANN=C|synonymous_variant|LOW|GNAZ|ENSG00000128266|transcript|ENST00000248996|protein_coding|2/3|c.606G>C|p.Val202Val|1272/3340|606/1068|202/355||,C|sequence_feature|LOW|GNAZ|ENSG00000128266|nucleotide_phosphate-binding_region:GTP|ENST00000248996|protein_coding|2/3|c.606G>C||||||,C|downstream_gene_variant|MODIFIER|GNAZ|ENSG00000128266|transcript|ENST00000492538|processed_transcript||n.*652G>C|||||585|,C|intron_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|4/6|c.422-32177C>G|||||| 22 23438506 . G A . . ANN=A|synonymous_variant|LOW|GNAZ|ENSG00000128266|transcript|ENST00000248996|protein_coding|2/3|c.624G>A|p.Glu208Glu|1290/3340|624/1068|208/355||,A|downstream_gene_variant|MODIFIER|GNAZ|ENSG00000128266|transcript|ENST00000492538|processed_transcript||n.*652G>A|||||603|,A|intron_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|4/6|c.422-32195C>T|||||| 22 23438536 . C T . . ANN=T|synonymous_variant|LOW|GNAZ|ENSG00000128266|transcript|ENST00000248996|protein_coding|2/3|c.654C>T|p.Gly218Gly|1320/3340|654/1068|218/355||,T|downstream_gene_variant|MODIFIER|GNAZ|ENSG00000128266|transcript|ENST00000492538|processed_transcript||n.*652C>T|||||633|,T|intron_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|4/6|c.422-32225G>A|||||| 22 23438569 . C T . . ANN=T|synonymous_variant|LOW|GNAZ|ENSG00000128266|transcript|ENST00000248996|protein_coding|2/3|c.687C>T|p.Ser229Ser|1353/3340|687/1068|229/355||,T|downstream_gene_variant|MODIFIER|GNAZ|ENSG00000128266|transcript|ENST00000492538|processed_transcript||n.*652C>T|||||666|,T|intron_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|4/6|c.422-32258G>A|||||| 22 23438648 . G T . . ANN=T|downstream_gene_variant|MODIFIER|GNAZ|ENSG00000128266|transcript|ENST00000492538|processed_transcript||n.*652G>T|||||745|,T|intron_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|4/6|c.422-32337C>A||||||,T|intron_variant|MODIFIER|GNAZ|ENSG00000128266|transcript|ENST00000248996|protein_coding|2/2|c.723+43G>T|||||| 22 23465238 . C T . . ANN=T|downstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000421213|protein_coding||c.*222G>A|||||1176|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|4/6|c.421+10975G>A||||||,T|intron_variant|MODIFIER|GNAZ|ENSG00000128266|transcript|ENST00000248996|protein_coding|2/2|c.724-36C>T||||||,T|intron_variant|MODIFIER|GNAZ|ENSG00000128266|transcript|ENST00000479571|processed_transcript|1/1|n.326-36C>T|||||| 22 23465507 . G A . . ANN=A|synonymous_variant|LOW|GNAZ|ENSG00000128266|transcript|ENST00000248996|protein_coding|3/3|c.957G>A|p.Glu319Glu|1623/3340|957/1068|319/355||,A|downstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000421213|protein_coding||c.*222C>T|||||907|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|4/6|c.421+10706C>T||||||,A|non_coding_exon_variant|MODIFIER|GNAZ|ENSG00000128266|transcript|ENST00000479571|processed_transcript|2/2|n.559G>A|||||| 22 23465631 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|GNAZ|ENSG00000128266|transcript|ENST00000248996|protein_coding|3/3|c.*13G>A|||||13|,A|downstream_gene_variant|MODIFIER|GNAZ|ENSG00000128266|transcript|ENST00000479571|processed_transcript||n.*581G>A|||||102|,A|downstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000421213|protein_coding||c.*222C>T|||||783|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|4/6|c.421+10582C>T|||||| 22 23476202 . C T . . ANN=T|upstream_gene_variant|MODIFIER|Metazoa_SRP|ENSG00000272019|transcript|ENST00000606537|misc_RNA||n.-1G>A|||||1010|,T|upstream_gene_variant|MODIFIER|AC000029.1|ENSG00000221069|transcript|ENST00000408142|miRNA||n.-1C>T|||||2605|,T|downstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000452757|protein_coding||c.*204G>A|||||1978|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000406876|protein_coding||c.*419G>A|||||2183|,T|intron_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|4/6|c.421+11G>A||||||,T|intron_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000421213|protein_coding|1/1|c.49+11G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000439064|protein_coding|2/2|c.193+11G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 23476261 . G A . . ANN=A|missense_variant|MODERATE|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|4/7|c.373C>T|p.Arg125Trp|570/1291|373/1047|125/348||,A|missense_variant|MODERATE|RTDR1|ENSG00000100218|transcript|ENST00000421213|protein_coding|1/2|c.1C>T|p.Arg1Trp|1/323|1/222|1/73||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|RTDR1|ENSG00000100218|transcript|ENST00000439064|protein_coding|2/3|c.145C>T|p.Arg49Trp|146/695|145/201|49/66||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|Metazoa_SRP|ENSG00000272019|transcript|ENST00000606537|misc_RNA||n.-1C>T|||||1069|,A|upstream_gene_variant|MODIFIER|AC000029.1|ENSG00000221069|transcript|ENST00000408142|miRNA||n.-1G>A|||||2546|,A|downstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000452757|protein_coding||c.*204C>T|||||1919|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000406876|protein_coding||c.*419C>T|||||2124| 22 23476266 . A G . . ANN=G|missense_variant|MODERATE|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|4/7|c.368T>C|p.Val123Ala|565/1291|368/1047|123/348||,G|missense_variant|MODERATE|RTDR1|ENSG00000100218|transcript|ENST00000439064|protein_coding|2/3|c.140T>C|p.Val47Ala|141/695|140/201|47/66||WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|Metazoa_SRP|ENSG00000272019|transcript|ENST00000606537|misc_RNA||n.-1T>C|||||1074|,G|upstream_gene_variant|MODIFIER|AC000029.1|ENSG00000221069|transcript|ENST00000408142|miRNA||n.-1A>G|||||2541|,G|upstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000421213|protein_coding||c.-1T>C|||||5|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000452757|protein_coding||c.*204T>C|||||1914|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000406876|protein_coding||c.*419T>C|||||2119| 22 23476358 . A G . . ANN=G|upstream_gene_variant|MODIFIER|Metazoa_SRP|ENSG00000272019|transcript|ENST00000606537|misc_RNA||n.-1T>C|||||1166|,G|upstream_gene_variant|MODIFIER|AC000029.1|ENSG00000221069|transcript|ENST00000408142|miRNA||n.-1A>G|||||2449|,G|upstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000421213|protein_coding||c.-1T>C|||||97|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000452757|protein_coding||c.*204T>C|||||1822|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000406876|protein_coding||c.*419T>C|||||2027|,G|intron_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|3/6|c.303-27T>C||||||,G|intron_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000439064|protein_coding|1/2|c.75-27T>C||||||WARNING_TRANSCRIPT_NO_START_CODON 22 23481065 . G A . . ANN=A|synonymous_variant|LOW|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|3/7|c.264C>T|p.Thr88Thr|461/1291|264/1047|88/348||,A|synonymous_variant|LOW|RTDR1|ENSG00000100218|transcript|ENST00000439064|protein_coding|1/3|c.36C>T|p.Thr12Thr|37/695|36/201|12/66||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|RTDR1|ENSG00000100218|transcript|ENST00000452757|protein_coding|2/3|c.144C>T|p.Thr48Thr|144/509|144/204|48/67||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|RTDR1|ENSG00000100218|transcript|ENST00000406876|protein_coding|3/4|c.264C>T|p.Thr88Thr|356/519|264/327|88/108||,A|upstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000421213|protein_coding||c.-1C>T|||||4804|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|AC000029.1|ENSG00000221069|transcript|ENST00000408142|miRNA||n.*91G>A|||||2168| 22 23481102 . A G . . ANN=G|missense_variant|MODERATE|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|3/7|c.227T>C|p.Leu76Pro|424/1291|227/1047|76/348||,G|missense_variant|MODERATE|RTDR1|ENSG00000100218|transcript|ENST00000452757|protein_coding|2/3|c.107T>C|p.Leu36Pro|107/509|107/204|36/67||WARNING_TRANSCRIPT_NO_START_CODON,G|missense_variant|MODERATE|RTDR1|ENSG00000100218|transcript|ENST00000406876|protein_coding|3/4|c.227T>C|p.Leu76Pro|319/519|227/327|76/108||,G|upstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000421213|protein_coding||c.-1T>C|||||4841|WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000439064|protein_coding||c.-2T>C|||||1|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|AC000029.1|ENSG00000221069|transcript|ENST00000408142|miRNA||n.*91A>G|||||2205| 22 23481133 . GAA G,GA . . ANN=|splice_region_variant&intron_variant|LOW|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|2/6|c.200-6_200-5delTT||||||,|splice_region_variant&intron_variant|LOW|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|2/6|c.200-6delT||||||,|splice_region_variant&intron_variant|LOW|RTDR1|ENSG00000100218|transcript|ENST00000452757|protein_coding|1/2|c.80-6_80-5delTT||||||WARNING_TRANSCRIPT_NO_START_CODON,|splice_region_variant&intron_variant|LOW|RTDR1|ENSG00000100218|transcript|ENST00000452757|protein_coding|1/2|c.80-6delT||||||WARNING_TRANSCRIPT_NO_START_CODON,|splice_region_variant&intron_variant|LOW|RTDR1|ENSG00000100218|transcript|ENST00000406876|protein_coding|2/3|c.200-6_200-5delTT||||||,|splice_region_variant&intron_variant|LOW|RTDR1|ENSG00000100218|transcript|ENST00000406876|protein_coding|2/3|c.200-6delT||||||,|upstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000421213|protein_coding||c.-1_-1delTT|||||4873|WARNING_TRANSCRIPT_NO_START_CODON,|upstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000421213|protein_coding||c.-1delT|||||4874|WARNING_TRANSCRIPT_NO_START_CODON,|upstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000439064|protein_coding||c.-2_-2delTT|||||33|WARNING_TRANSCRIPT_NO_START_CODON,|upstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000439064|protein_coding||c.-2delT|||||34|WARNING_TRANSCRIPT_NO_START_CODON,|downstream_gene_variant|MODIFIER|AC000029.1|ENSG00000221069|transcript|ENST00000408142|miRNA||n.*91_*91delAA|||||2237|,|downstream_gene_variant|MODIFIER|AC000029.1|ENSG00000221069|transcript|ENST00000408142|miRNA||n.*91delA|||||2238| 22 23481144 . A AC . . ANN=C|upstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000421213|protein_coding||c.-1_-1insG|||||4884|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000439064|protein_coding||c.-2_-2insG|||||44|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|AC000029.1|ENSG00000221069|transcript|ENST00000408142|miRNA||n.*91_*91insC|||||2248|,C|intron_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|2/6|c.200-16_200-15insG||||||,C|intron_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000452757|protein_coding|1/2|c.80-16_80-15insG||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000406876|protein_coding|2/3|c.200-16_200-15insG|||||| 22 23481146 . A C . . ANN=C|upstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000421213|protein_coding||c.-1T>G|||||4885|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000439064|protein_coding||c.-2T>G|||||45|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|AC000029.1|ENSG00000221069|transcript|ENST00000408142|miRNA||n.*91A>C|||||2249|,C|intron_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|2/6|c.200-17T>G||||||,C|intron_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000452757|protein_coding|1/2|c.80-17T>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000406876|protein_coding|2/3|c.200-17T>G|||||| 22 23482445 . G A . . ANN=A|missense_variant|MODERATE|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|2/7|c.163C>T|p.His55Tyr|360/1291|163/1047|55/348||,A|missense_variant|MODERATE|RTDR1|ENSG00000100218|transcript|ENST00000452757|protein_coding|1/3|c.43C>T|p.His15Tyr|43/509|43/204|15/67||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|RTDR1|ENSG00000100218|transcript|ENST00000406876|protein_coding|2/4|c.163C>T|p.His55Tyr|255/519|163/327|55/108||,A|upstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000439064|protein_coding||c.-2C>T|||||1344|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|AC000029.1|ENSG00000221069|transcript|ENST00000408142|miRNA||n.*91G>A|||||3548| 22 23482460 . A G . . ANN=G|synonymous_variant|LOW|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|2/7|c.148T>C|p.Leu50Leu|345/1291|148/1047|50/348||,G|synonymous_variant|LOW|RTDR1|ENSG00000100218|transcript|ENST00000452757|protein_coding|1/3|c.28T>C|p.Leu10Leu|28/509|28/204|10/67||WARNING_TRANSCRIPT_NO_START_CODON,G|synonymous_variant|LOW|RTDR1|ENSG00000100218|transcript|ENST00000406876|protein_coding|2/4|c.148T>C|p.Leu50Leu|240/519|148/327|50/108||,G|upstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000439064|protein_coding||c.-2T>C|||||1359|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|AC000029.1|ENSG00000221069|transcript|ENST00000408142|miRNA||n.*91A>G|||||3563| 22 23482482 . C T . . ANN=T|synonymous_variant|LOW|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|2/7|c.126G>A|p.Thr42Thr|323/1291|126/1047|42/348||,T|synonymous_variant|LOW|RTDR1|ENSG00000100218|transcript|ENST00000452757|protein_coding|1/3|c.6G>A|p.Thr2Thr|6/509|6/204|2/67||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|RTDR1|ENSG00000100218|transcript|ENST00000406876|protein_coding|2/4|c.126G>A|p.Thr42Thr|218/519|126/327|42/108||,T|upstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000439064|protein_coding||c.-2G>A|||||1381|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|AC000029.1|ENSG00000221069|transcript|ENST00000408142|miRNA||n.*91C>T|||||3585| 22 23482483 . G A . . ANN=A|missense_variant|MODERATE|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|2/7|c.125C>T|p.Thr42Met|322/1291|125/1047|42/348||,A|missense_variant|MODERATE|RTDR1|ENSG00000100218|transcript|ENST00000452757|protein_coding|1/3|c.5C>T|p.Thr2Met|5/509|5/204|2/67||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|RTDR1|ENSG00000100218|transcript|ENST00000406876|protein_coding|2/4|c.125C>T|p.Thr42Met|217/519|125/327|42/108||,A|upstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000439064|protein_coding||c.-2C>T|||||1382|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|AC000029.1|ENSG00000221069|transcript|ENST00000408142|miRNA||n.*91G>A|||||3586| 22 23482626 . G T . . ANN=T|5_prime_UTR_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|2/7|c.-19C>A|||||19|,T|5_prime_UTR_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000406876|protein_coding|2/4|c.-19C>A|||||19|,T|upstream_gene_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000263116|protein_coding||c.-41G>T|||||4887|,T|upstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000439064|protein_coding||c.-2C>A|||||1525|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000452757|protein_coding||c.-1C>A|||||139|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000341989|protein_coding||c.-1G>T|||||4927|,T|downstream_gene_variant|MODIFIER|AC000029.1|ENSG00000221069|transcript|ENST00000408142|miRNA||n.*91G>T|||||3729| 22 23482646 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|2/7|c.-39C>T|||||39|,A|5_prime_UTR_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000406876|protein_coding|2/4|c.-39C>T|||||39|,A|upstream_gene_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000263116|protein_coding||c.-41G>A|||||4867|,A|upstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000439064|protein_coding||c.-2C>T|||||1545|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000452757|protein_coding||c.-1C>T|||||159|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000341989|protein_coding||c.-1G>A|||||4907|,A|downstream_gene_variant|MODIFIER|AC000029.1|ENSG00000221069|transcript|ENST00000408142|miRNA||n.*91G>A|||||3749| 22 23487533 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000263116|protein_coding|1/11|c.-20C>T|||||20|,T|upstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding||c.-198G>A|||||3253|,T|upstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000406876|protein_coding||c.-93G>A|||||325|,T|upstream_gene_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000341989|protein_coding||c.-1C>T|||||20|,T|upstream_gene_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000420895|protein_coding||c.-2C>T|||||4767|WARNING_TRANSCRIPT_NO_START_CODON 22 23487656 . T A . . ANN=A|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000263116|protein_coding|1/11|c.104T>A|p.Val35Glu|144/3828|104/1002|35/333||,A|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000341989|protein_coding|1/10|c.104T>A|p.Val35Glu|104/936|104/936|35/311||,A|upstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding||c.-198A>T|||||3376|,A|upstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000406876|protein_coding||c.-93A>T|||||448|,A|upstream_gene_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000420895|protein_coding||c.-2T>A|||||4644|WARNING_TRANSCRIPT_NO_START_CODON 22 23487701 . C T . . ANN=T|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000263116|protein_coding|1/11|c.149C>T|p.Pro50Leu|189/3828|149/1002|50/333||,T|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000341989|protein_coding|1/10|c.149C>T|p.Pro50Leu|149/936|149/936|50/311||,T|upstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding||c.-198G>A|||||3421|,T|upstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000406876|protein_coding||c.-93G>A|||||493|,T|upstream_gene_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000420895|protein_coding||c.-2C>T|||||4599|WARNING_TRANSCRIPT_NO_START_CODON 22 23487711 . G T . . ANN=T|synonymous_variant|LOW|RAB36|ENSG00000100228|transcript|ENST00000263116|protein_coding|1/11|c.159G>T|p.Ala53Ala|199/3828|159/1002|53/333||,T|synonymous_variant|LOW|RAB36|ENSG00000100228|transcript|ENST00000341989|protein_coding|1/10|c.159G>T|p.Ala53Ala|159/936|159/936|53/311||,T|upstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding||c.-198C>A|||||3431|,T|upstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000406876|protein_coding||c.-93C>A|||||503|,T|upstream_gene_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000420895|protein_coding||c.-2G>T|||||4589|WARNING_TRANSCRIPT_NO_START_CODON 22 23488775 . C A . . ANN=A|upstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding||c.-198G>T|||||4495|,A|upstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000406876|protein_coding||c.-93G>T|||||1567|,A|upstream_gene_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000420895|protein_coding||c.-2C>A|||||3525|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000263116|protein_coding|1/10|c.187-17C>A||||||,A|intron_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000341989|protein_coding|1/9|c.187-17C>A|||||| 22 23488859 . C T . . ANN=T|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000263116|protein_coding|2/11|c.254C>T|p.Ala85Val|294/3828|254/1002|85/333||,T|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000341989|protein_coding|2/10|c.254C>T|p.Ala85Val|254/936|254/936|85/311||,T|upstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding||c.-198G>A|||||4579|,T|upstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000406876|protein_coding||c.-93G>A|||||1651|,T|upstream_gene_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000420895|protein_coding||c.-2C>T|||||3441|WARNING_TRANSCRIPT_NO_START_CODON 22 23488888 . G A . . ANN=A|upstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding||c.-198C>T|||||4608|,A|upstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000406876|protein_coding||c.-93C>T|||||1680|,A|upstream_gene_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000420895|protein_coding||c.-2G>A|||||3412|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000263116|protein_coding|2/10|c.267+16G>A||||||,A|intron_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000341989|protein_coding|2/9|c.267+16G>A|||||| 22 23492212 . T G . . ANN=G|upstream_gene_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000420895|protein_coding||c.-2T>G|||||88|WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000263116|protein_coding|2/10|c.268-38T>G||||||,G|intron_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000341989|protein_coding|2/9|c.268-38T>G|||||| 22 23492216 . A G . . ANN=G|upstream_gene_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000420895|protein_coding||c.-2A>G|||||84|WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000263116|protein_coding|2/10|c.268-34A>G||||||,G|intron_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000341989|protein_coding|2/9|c.268-34A>G|||||| 22 23492236 . C T . . ANN=T|upstream_gene_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000420895|protein_coding||c.-2C>T|||||64|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000263116|protein_coding|2/10|c.268-14C>T||||||,T|intron_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000341989|protein_coding|2/9|c.268-14C>T|||||| 22 23492257 . C T . . ANN=T|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000263116|protein_coding|3/11|c.275C>T|p.Thr92Met|315/3828|275/1002|92/333||,T|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000341989|protein_coding|3/10|c.275C>T|p.Thr92Met|275/936|275/936|92/311||,T|upstream_gene_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000420895|protein_coding||c.-2C>T|||||43|WARNING_TRANSCRIPT_NO_START_CODON 22 23492286 . C G . . ANN=G|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000263116|protein_coding|3/11|c.304C>G|p.His102Asp|344/3828|304/1002|102/333||,G|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000341989|protein_coding|3/10|c.304C>G|p.His102Asp|304/936|304/936|102/311||,G|upstream_gene_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000420895|protein_coding||c.-2C>G|||||14|WARNING_TRANSCRIPT_NO_START_CODON 22 23492298 . C T . . ANN=T|stop_gained|HIGH|RAB36|ENSG00000100228|transcript|ENST00000263116|protein_coding|3/11|c.316C>T|p.Gln106*|356/3828|316/1002|106/333||,T|stop_gained|HIGH|RAB36|ENSG00000100228|transcript|ENST00000341989|protein_coding|3/10|c.316C>T|p.Gln106*|316/936|316/936|106/311||,T|upstream_gene_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000420895|protein_coding||c.-2C>T|||||2|WARNING_TRANSCRIPT_NO_START_CODON;LOF=(RAB36|ENSG00000100228|3|0.67);NMD=(RAB36|ENSG00000100228|3|0.67) 22 23492320 . G A . . ANN=A|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000263116|protein_coding|3/11|c.338G>A|p.Arg113His|378/3828|338/1002|113/333||,A|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000341989|protein_coding|3/10|c.338G>A|p.Arg113His|338/936|338/936|113/311||,A|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000420895|protein_coding|1/4|c.20G>A|p.Arg7His|21/554|20/396|7/131||WARNING_TRANSCRIPT_NO_START_CODON 22 23494619 . C T . . ANN=T|intron_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000263116|protein_coding|3/10|c.360-29C>T||||||,T|intron_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000341989|protein_coding|3/9|c.360-601C>T||||||,T|intron_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000420895|protein_coding|1/3|c.42-29C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 23494620 . G A . . ANN=A|intron_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000263116|protein_coding|3/10|c.360-28G>A||||||,A|intron_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000341989|protein_coding|3/9|c.360-600G>A||||||,A|intron_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000420895|protein_coding|1/3|c.42-28G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 23494622 . C T . . ANN=T|intron_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000263116|protein_coding|3/10|c.360-26C>T||||||,T|intron_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000341989|protein_coding|3/9|c.360-598C>T||||||,T|intron_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000420895|protein_coding|1/3|c.42-26C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 23494651 . C T . . ANN=T|synonymous_variant|LOW|RAB36|ENSG00000100228|transcript|ENST00000263116|protein_coding|4/11|c.363C>T|p.Leu121Leu|403/3828|363/1002|121/333||,T|synonymous_variant|LOW|RAB36|ENSG00000100228|transcript|ENST00000420895|protein_coding|2/4|c.45C>T|p.Leu15Leu|46/554|45/396|15/131||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000341989|protein_coding|3/9|c.360-569C>T|||||| 22 23495216 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|RAB36|ENSG00000100228|transcript|ENST00000263116|protein_coding|4/10|c.426-4A>G||||||,G|splice_region_variant&intron_variant|LOW|RAB36|ENSG00000100228|transcript|ENST00000341989|protein_coding|3/9|c.360-4A>G||||||,G|splice_region_variant&intron_variant|LOW|RAB36|ENSG00000100228|transcript|ENST00000420895|protein_coding|2/3|c.108-4A>G||||||WARNING_TRANSCRIPT_NO_START_CODON 22 23495247 . C G . . ANN=G|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000263116|protein_coding|5/11|c.453C>G|p.Asp151Glu|493/3828|453/1002|151/333||,G|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000341989|protein_coding|4/10|c.387C>G|p.Asp129Glu|387/936|387/936|129/311||,G|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000420895|protein_coding|3/4|c.135C>G|p.Asp45Glu|136/554|135/396|45/131||WARNING_TRANSCRIPT_NO_START_CODON 22 23495285 . G A . . ANN=A|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000263116|protein_coding|5/11|c.491G>A|p.Arg164His|531/3828|491/1002|164/333||,A|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000341989|protein_coding|4/10|c.425G>A|p.Arg142His|425/936|425/936|142/311||,A|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000420895|protein_coding|3/4|c.173G>A|p.Arg58His|174/554|173/396|58/131||WARNING_TRANSCRIPT_NO_START_CODON 22 23498189 . A G . . ANN=G|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000263116|protein_coding|6/11|c.562A>G|p.Ile188Val|602/3828|562/1002|188/333||,G|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000341989|protein_coding|5/10|c.496A>G|p.Ile166Val|496/936|496/936|166/311||,G|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000420895|protein_coding|4/4|c.244A>G|p.Ile82Val|245/554|244/396|82/131||WARNING_TRANSCRIPT_NO_START_CODON 22 23498262 . G A . . ANN=A|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000420895|protein_coding|4/4|c.317G>A|p.Arg106Gln|318/554|317/396|106/131||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000263116|protein_coding|6/10|c.592+43G>A||||||,A|intron_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000341989|protein_coding|5/9|c.526+43G>A|||||| 22 23500227 . CCA C . . ANN=|frameshift_variant&splice_region_variant|HIGH|RAB36|ENSG00000100228|transcript|ENST00000263116|protein_coding|7/11|c.642_643delCA|p.Thr214fs|682/3828|642/1002|214/333||,|frameshift_variant&splice_region_variant|HIGH|RAB36|ENSG00000100228|transcript|ENST00000341989|protein_coding|6/10|c.576_577delCA|p.Thr192fs|576/936|576/936|192/311||,|downstream_gene_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000420895|protein_coding||c.*397_*397delCA|||||1730|WARNING_TRANSCRIPT_NO_START_CODON;LOF=(RAB36|ENSG00000100228|3|0.67) 22 23501056 . ATCTC A . . ANN=|downstream_gene_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000420895|protein_coding||c.*397_*397delTCTC|||||2559|WARNING_TRANSCRIPT_NO_START_CODON,|intron_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000263116|protein_coding|7/10|c.645-26_645-23delTCTC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000341989|protein_coding|6/9|c.579-26_579-23delTCTC||||||INFO_REALIGN_3_PRIME 22 23501211 . G A . . ANN=A|downstream_gene_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000420895|protein_coding||c.*397G>A|||||2713|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000263116|protein_coding|8/10|c.726+45G>A||||||,A|intron_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000341989|protein_coding|7/9|c.660+45G>A|||||| 22 23501315 . C T . . ANN=T|downstream_gene_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000420895|protein_coding||c.*397C>T|||||2817|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000263116|protein_coding|8/10|c.727-35C>T||||||,T|intron_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000341989|protein_coding|7/9|c.661-35C>T|||||| 22 23501320 . C T . . ANN=T|downstream_gene_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000420895|protein_coding||c.*397C>T|||||2822|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000263116|protein_coding|8/10|c.727-30C>T||||||,T|intron_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000341989|protein_coding|7/9|c.661-30C>T|||||| 22 23501321 . G A . . ANN=A|downstream_gene_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000420895|protein_coding||c.*397G>A|||||2823|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000263116|protein_coding|8/10|c.727-29G>A||||||,A|intron_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000341989|protein_coding|7/9|c.661-29G>A|||||| 22 23501346 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|RAB36|ENSG00000100228|transcript|ENST00000263116|protein_coding|8/10|c.727-4C>T||||||,T|splice_region_variant&intron_variant|LOW|RAB36|ENSG00000100228|transcript|ENST00000341989|protein_coding|7/9|c.661-4C>T||||||,T|downstream_gene_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000420895|protein_coding||c.*397C>T|||||2848|WARNING_TRANSCRIPT_NO_START_CODON 22 23501373 . C T . . ANN=T|synonymous_variant|LOW|RAB36|ENSG00000100228|transcript|ENST00000263116|protein_coding|9/11|c.750C>T|p.Ala250Ala|790/3828|750/1002|250/333||,T|synonymous_variant|LOW|RAB36|ENSG00000100228|transcript|ENST00000341989|protein_coding|8/10|c.684C>T|p.Ala228Ala|684/936|684/936|228/311||,T|downstream_gene_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000420895|protein_coding||c.*397C>T|||||2875|WARNING_TRANSCRIPT_NO_START_CODON 22 23503045 . G A . . ANN=A|downstream_gene_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000420895|protein_coding||c.*397G>A|||||4547|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000263116|protein_coding|9/10|c.818-21G>A||||||,A|intron_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000341989|protein_coding|8/9|c.752-21G>A|||||| 22 23503082 . A T . . ANN=T|synonymous_variant|LOW|RAB36|ENSG00000100228|transcript|ENST00000263116|protein_coding|10/11|c.834A>T|p.Ala278Ala|874/3828|834/1002|278/333||,T|synonymous_variant|LOW|RAB36|ENSG00000100228|transcript|ENST00000341989|protein_coding|9/10|c.768A>T|p.Ala256Ala|768/936|768/936|256/311||,T|downstream_gene_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000420895|protein_coding||c.*397A>T|||||4584|WARNING_TRANSCRIPT_NO_START_CODON 22 23503121 . G A . . ANN=A|synonymous_variant|LOW|RAB36|ENSG00000100228|transcript|ENST00000263116|protein_coding|10/11|c.873G>A|p.Ser291Ser|913/3828|873/1002|291/333||,A|synonymous_variant|LOW|RAB36|ENSG00000100228|transcript|ENST00000341989|protein_coding|9/10|c.807G>A|p.Ser269Ser|807/936|807/936|269/311||,A|downstream_gene_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000420895|protein_coding||c.*397G>A|||||4623|WARNING_TRANSCRIPT_NO_START_CODON 22 23503155 . C T . . ANN=T|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000263116|protein_coding|10/11|c.907C>T|p.Arg303Trp|947/3828|907/1002|303/333||,T|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000341989|protein_coding|9/10|c.841C>T|p.Arg281Trp|841/936|841/936|281/311||,T|downstream_gene_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000420895|protein_coding||c.*397C>T|||||4657|WARNING_TRANSCRIPT_NO_START_CODON 22 23503170 . A G . . ANN=G|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000263116|protein_coding|10/11|c.922A>G|p.Asn308Asp|962/3828|922/1002|308/333||,G|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000341989|protein_coding|9/10|c.856A>G|p.Asn286Asp|856/936|856/936|286/311||,G|downstream_gene_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000420895|protein_coding||c.*397A>G|||||4672|WARNING_TRANSCRIPT_NO_START_CODON 22 23503205 . G C . . ANN=C|downstream_gene_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000420895|protein_coding||c.*397G>C|||||4707|WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000263116|protein_coding|10/10|c.937+20G>C||||||,C|intron_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000341989|protein_coding|9/9|c.871+20G>C|||||| 22 23503651 . C T . . ANN=T|intron_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000263116|protein_coding|10/10|c.938-36C>T||||||,T|intron_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000341989|protein_coding|9/9|c.872-36C>T|||||| 22 23503706 . C T . . ANN=T|synonymous_variant|LOW|RAB36|ENSG00000100228|transcript|ENST00000263116|protein_coding|11/11|c.957C>T|p.Pro319Pro|997/3828|957/1002|319/333||,T|synonymous_variant|LOW|RAB36|ENSG00000100228|transcript|ENST00000341989|protein_coding|10/10|c.891C>T|p.Pro297Pro|891/936|891/936|297/311|| 22 23503707 . G A . . ANN=A|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000263116|protein_coding|11/11|c.958G>A|p.Glu320Lys|998/3828|958/1002|320/333||,A|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000341989|protein_coding|10/10|c.892G>A|p.Glu298Lys|892/936|892/936|298/311|| 22 23503756 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000263116|protein_coding|11/11|c.*5G>A|||||5|,A|downstream_gene_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000341989|protein_coding||c.*936G>A|||||5| 22 23523139 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|1/23|c.-9G>A|||||9|,A|5_prime_UTR_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000398512|protein_coding|1/2|c.-9G>A|||||9|,A|5_prime_UTR_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|1/22|c.-9G>A|||||9|,A|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000593306|processed_pseudogene||n.-1C>T|||||674|,A|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000412037|processed_pseudogene||n.-1C>T|||||780|,A|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000479188|processed_transcript|1/4|n.129+1120G>A|||||| 22 23523218 . A G . . ANN=G|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|1/23|c.71A>G|p.Glu24Gly|822/7082|71/3816|24/1271||,G|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000398512|protein_coding|1/2|c.71A>G|p.Glu24Gly|667/2000|71/1404|24/467||,G|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|1/22|c.71A>G|p.Glu24Gly|667/4708|71/3684|24/1227||,G|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000305877|protein_coding|1/23|c.71A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000359540|protein_coding|1/22|c.71A>G||||||,G|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000593306|processed_pseudogene||n.-1T>C|||||753|,G|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000412037|processed_pseudogene||n.-1T>C|||||859|,G|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000479188|processed_transcript|1/4|n.129+1199A>G|||||| 22 23523219 . G A . . ANN=A|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|1/23|c.72G>A|p.Glu24Glu|823/7082|72/3816|24/1271||,A|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000398512|protein_coding|1/2|c.72G>A|p.Glu24Glu|668/2000|72/1404|24/467||,A|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|1/22|c.72G>A|p.Glu24Glu|668/4708|72/3684|24/1227||,A|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000305877|protein_coding|1/23|c.72G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000359540|protein_coding|1/22|c.72G>A||||||,A|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000593306|processed_pseudogene||n.-1C>T|||||754|,A|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000412037|processed_pseudogene||n.-1C>T|||||860|,A|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000479188|processed_transcript|1/4|n.129+1200G>A|||||| 22 23523309 . C T . . ANN=T|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|1/23|c.162C>T|p.Phe54Phe|913/7082|162/3816|54/1271||,T|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000398512|protein_coding|1/2|c.162C>T|p.Phe54Phe|758/2000|162/1404|54/467||,T|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|1/22|c.162C>T|p.Phe54Phe|758/4708|162/3684|54/1227||,T|TF_binding_site_variant|LOW|||Gabp|MA0062.2|||||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000305877|protein_coding|1/23|c.162C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|helix|ENST00000305877|protein_coding|1/23|c.162C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000359540|protein_coding|1/22|c.162C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|helix|ENST00000359540|protein_coding|1/22|c.162C>T||||||,T|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000593306|processed_pseudogene||n.-1G>A|||||844|,T|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000412037|processed_pseudogene||n.-1G>A|||||950|,T|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000479188|processed_transcript|1/4|n.129+1290C>T|||||| 22 23523540 . C A . . ANN=A|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|1/23|c.393C>A|p.Ala131Ala|1144/7082|393/3816|131/1271||,A|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000398512|protein_coding|1/2|c.393C>A|p.Ala131Ala|989/2000|393/1404|131/467||,A|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|1/22|c.393C>A|p.Ala131Ala|989/4708|393/3684|131/1227||,A|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000305877|protein_coding|1/23|c.393C>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000359540|protein_coding|1/22|c.393C>A||||||,A|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000593306|processed_pseudogene||n.-1G>T|||||1075|,A|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000412037|processed_pseudogene||n.-1G>T|||||1181|,A|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000479188|processed_transcript|1/4|n.129+1521C>A|||||| 22 23523550 . G A . . ANN=A|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|1/23|c.403G>A|p.Gly135Arg|1154/7082|403/3816|135/1271||,A|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000398512|protein_coding|1/2|c.403G>A|p.Gly135Arg|999/2000|403/1404|135/467||,A|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|1/22|c.403G>A|p.Gly135Arg|999/4708|403/3684|135/1227||,A|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000305877|protein_coding|1/23|c.403G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000359540|protein_coding|1/22|c.403G>A||||||,A|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000593306|processed_pseudogene||n.-1C>T|||||1085|,A|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000412037|processed_pseudogene||n.-1C>T|||||1191|,A|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000479188|processed_transcript|1/4|n.129+1531G>A|||||| 22 23523602 . C T . . ANN=T|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|1/23|c.455C>T|p.Ala152Val|1206/7082|455/3816|152/1271||,T|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000398512|protein_coding|1/2|c.455C>T|p.Ala152Val|1051/2000|455/1404|152/467||,T|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|1/22|c.455C>T|p.Ala152Val|1051/4708|455/3684|152/1227||,T|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000305877|protein_coding|1/23|c.455C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000359540|protein_coding|1/22|c.455C>T||||||,T|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000593306|processed_pseudogene||n.-1G>A|||||1137|,T|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000412037|processed_pseudogene||n.-1G>A|||||1243|,T|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000479188|processed_transcript|1/4|n.129+1583C>T|||||| 22 23523617 . A T . . ANN=T|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|1/23|c.470A>T|p.Asn157Ile|1221/7082|470/3816|157/1271||,T|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000398512|protein_coding|1/2|c.470A>T|p.Asn157Ile|1066/2000|470/1404|157/467||,T|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|1/22|c.470A>T|p.Asn157Ile|1066/4708|470/3684|157/1227||,T|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000305877|protein_coding|1/23|c.470A>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000359540|protein_coding|1/22|c.470A>T||||||,T|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000593306|processed_pseudogene||n.-1T>A|||||1152|,T|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000412037|processed_pseudogene||n.-1T>A|||||1258|,T|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000479188|processed_transcript|1/4|n.129+1598A>T|||||| 22 23523630 . C A . . ANN=A|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|1/23|c.483C>A|p.Ile161Ile|1234/7082|483/3816|161/1271||,A|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000398512|protein_coding|1/2|c.483C>A|p.Ile161Ile|1079/2000|483/1404|161/467||,A|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|1/22|c.483C>A|p.Ile161Ile|1079/4708|483/3684|161/1227||,A|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000305877|protein_coding|1/23|c.483C>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000359540|protein_coding|1/22|c.483C>A||||||,A|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000593306|processed_pseudogene||n.-1G>T|||||1165|,A|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000412037|processed_pseudogene||n.-1G>T|||||1271|,A|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000479188|processed_transcript|1/4|n.129+1611C>A|||||| 22 23523644 . G A . . ANN=A|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|1/23|c.497G>A|p.Gly166Asp|1248/7082|497/3816|166/1271||,A|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000398512|protein_coding|1/2|c.497G>A|p.Gly166Asp|1093/2000|497/1404|166/467||,A|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|1/22|c.497G>A|p.Gly166Asp|1093/4708|497/3684|166/1227||,A|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000305877|protein_coding|1/23|c.497G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000359540|protein_coding|1/22|c.497G>A||||||,A|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000593306|processed_pseudogene||n.-1C>T|||||1179|,A|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000412037|processed_pseudogene||n.-1C>T|||||1285|,A|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000479188|processed_transcript|1/4|n.129+1625G>A|||||| 22 23523702 . G C . . ANN=C|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|1/23|c.555G>C|p.Glu185Asp|1306/7082|555/3816|185/1271||,C|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000398512|protein_coding|1/2|c.555G>C|p.Glu185Asp|1151/2000|555/1404|185/467||,C|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|1/22|c.555G>C|p.Glu185Asp|1151/4708|555/3684|185/1227||,C|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000305877|protein_coding|1/23|c.555G>C||||||,C|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000359540|protein_coding|1/22|c.555G>C||||||,C|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000593306|processed_pseudogene||n.-1C>G|||||1237|,C|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000412037|processed_pseudogene||n.-1C>G|||||1343|,C|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000479188|processed_transcript|1/4|n.129+1683G>C|||||| 22 23523753 . C T . . ANN=T|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|1/23|c.606C>T|p.Ser202Ser|1357/7082|606/3816|202/1271||,T|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000398512|protein_coding|1/2|c.606C>T|p.Ser202Ser|1202/2000|606/1404|202/467||,T|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|1/22|c.606C>T|p.Ser202Ser|1202/4708|606/3684|202/1227||,T|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000305877|protein_coding|1/23|c.606C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Binding_to_ABL_SH2-domain|ENST00000305877|protein_coding|1/23|c.606C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000359540|protein_coding|1/22|c.606C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Binding_to_ABL_SH2-domain|ENST00000359540|protein_coding|1/22|c.606C>T||||||,T|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000593306|processed_pseudogene||n.-1G>A|||||1288|,T|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000412037|processed_pseudogene||n.-1G>A|||||1394|,T|TF_binding_site_variant|MODIFIER|||Nrsf|MA0138.1|||||||||,T|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000479188|processed_transcript|1/4|n.129+1734C>T|||||| 22 23523969 . G A . . ANN=A|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|1/23|c.822G>A|p.Leu274Leu|1573/7082|822/3816|274/1271||,A|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000398512|protein_coding|1/2|c.822G>A|p.Leu274Leu|1418/2000|822/1404|274/467||,A|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|1/22|c.822G>A|p.Leu274Leu|1418/4708|822/3684|274/1227||,A|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000305877|protein_coding|1/23|c.822G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Binding_to_ABL_SH2-domain|ENST00000305877|protein_coding|1/23|c.822G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000359540|protein_coding|1/22|c.822G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Binding_to_ABL_SH2-domain|ENST00000359540|protein_coding|1/22|c.822G>A||||||,A|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000593306|processed_pseudogene||n.-1C>T|||||1504|,A|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000412037|processed_pseudogene||n.-1C>T|||||1610|,A|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000479188|processed_transcript|1/4|n.129+1950G>A|||||| 22 23523972 . G A . . ANN=A|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|1/23|c.825G>A|p.Glu275Glu|1576/7082|825/3816|275/1271||,A|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000398512|protein_coding|1/2|c.825G>A|p.Glu275Glu|1421/2000|825/1404|275/467||,A|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|1/22|c.825G>A|p.Glu275Glu|1421/4708|825/3684|275/1227||,A|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000305877|protein_coding|1/23|c.825G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Binding_to_ABL_SH2-domain|ENST00000305877|protein_coding|1/23|c.825G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000359540|protein_coding|1/22|c.825G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Binding_to_ABL_SH2-domain|ENST00000359540|protein_coding|1/22|c.825G>A||||||,A|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000593306|processed_pseudogene||n.-1C>T|||||1507|,A|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000412037|processed_pseudogene||n.-1C>T|||||1613|,A|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000479188|processed_transcript|1/4|n.129+1953G>A|||||| 22 23524052 . C G . . ANN=G|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|1/23|c.905C>G|p.Thr302Ser|1656/7082|905/3816|302/1271||,G|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000398512|protein_coding|1/2|c.905C>G|p.Thr302Ser|1501/2000|905/1404|302/467||,G|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|1/22|c.905C>G|p.Thr302Ser|1501/4708|905/3684|302/1227||,G|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000305877|protein_coding|1/23|c.905C>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Binding_to_ABL_SH2-domain|ENST00000305877|protein_coding|1/23|c.905C>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000359540|protein_coding|1/22|c.905C>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Binding_to_ABL_SH2-domain|ENST00000359540|protein_coding|1/22|c.905C>G||||||,G|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000593306|processed_pseudogene||n.-1G>C|||||1587|,G|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000412037|processed_pseudogene||n.-1G>C|||||1693|,G|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000479188|processed_transcript|1/4|n.129+2033C>G|||||| 22 23524069 . C T . . ANN=T|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|1/23|c.922C>T|p.Arg308Cys|1673/7082|922/3816|308/1271||,T|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000398512|protein_coding|1/2|c.922C>T|p.Arg308Cys|1518/2000|922/1404|308/467||,T|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|1/22|c.922C>T|p.Arg308Cys|1518/4708|922/3684|308/1227||,T|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000305877|protein_coding|1/23|c.922C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Binding_to_ABL_SH2-domain|ENST00000305877|protein_coding|1/23|c.922C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000359540|protein_coding|1/22|c.922C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Binding_to_ABL_SH2-domain|ENST00000359540|protein_coding|1/22|c.922C>T||||||,T|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000593306|processed_pseudogene||n.-1G>A|||||1604|,T|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000412037|processed_pseudogene||n.-1G>A|||||1710|,T|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000479188|processed_transcript|1/4|n.129+2050C>T|||||| 22 23524083 . C A . . ANN=A|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|1/23|c.936C>A|p.Pro312Pro|1687/7082|936/3816|312/1271||,A|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000398512|protein_coding|1/2|c.936C>A|p.Pro312Pro|1532/2000|936/1404|312/467||,A|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|1/22|c.936C>A|p.Pro312Pro|1532/4708|936/3684|312/1227||,A|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000305877|protein_coding|1/23|c.936C>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Binding_to_ABL_SH2-domain|ENST00000305877|protein_coding|1/23|c.936C>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000359540|protein_coding|1/22|c.936C>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Binding_to_ABL_SH2-domain|ENST00000359540|protein_coding|1/22|c.936C>A||||||,A|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000593306|processed_pseudogene||n.-1G>T|||||1618|,A|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000412037|processed_pseudogene||n.-1G>T|||||1724|,A|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000479188|processed_transcript|1/4|n.129+2064C>A|||||| 22 23524111 . G C . . ANN=C|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|1/23|c.964G>C|p.Glu322Gln|1715/7082|964/3816|322/1271||,C|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000398512|protein_coding|1/2|c.964G>C|p.Glu322Gln|1560/2000|964/1404|322/467||,C|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|1/22|c.964G>C|p.Glu322Gln|1560/4708|964/3684|322/1227||,C|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000305877|protein_coding|1/23|c.964G>C||||||,C|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Binding_to_ABL_SH2-domain|ENST00000305877|protein_coding|1/23|c.964G>C||||||,C|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000359540|protein_coding|1/22|c.964G>C||||||,C|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Binding_to_ABL_SH2-domain|ENST00000359540|protein_coding|1/22|c.964G>C||||||,C|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000593306|processed_pseudogene||n.-1C>G|||||1646|,C|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000412037|processed_pseudogene||n.-1C>G|||||1752|,C|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000479188|processed_transcript|1/4|n.129+2092G>C|||||| 22 23524265 . A G . . ANN=G|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|1/23|c.1118A>G|p.Asn373Ser|1869/7082|1118/3816|373/1271||,G|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000398512|protein_coding|1/2|c.1118A>G|p.Asn373Ser|1714/2000|1118/1404|373/467||,G|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|1/22|c.1118A>G|p.Asn373Ser|1714/4708|1118/3684|373/1227||,G|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000305877|protein_coding|1/23|c.1118A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Binding_to_ABL_SH2-domain|ENST00000305877|protein_coding|1/23|c.1118A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000359540|protein_coding|1/22|c.1118A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Binding_to_ABL_SH2-domain|ENST00000359540|protein_coding|1/22|c.1118A>G||||||,G|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000593306|processed_pseudogene||n.-1T>C|||||1800|,G|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000412037|processed_pseudogene||n.-1T>C|||||1906|,G|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000479188|processed_transcript|1/4|n.129+2246A>G|||||| 22 23524289 . G A . . ANN=A|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|1/23|c.1142G>A|p.Ser381Asn|1893/7082|1142/3816|381/1271||,A|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000398512|protein_coding|1/2|c.1142G>A|p.Ser381Asn|1738/2000|1142/1404|381/467||,A|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|1/22|c.1142G>A|p.Ser381Asn|1738/4708|1142/3684|381/1227||,A|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000305877|protein_coding|1/23|c.1142G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Binding_to_ABL_SH2-domain|ENST00000305877|protein_coding|1/23|c.1142G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000359540|protein_coding|1/22|c.1142G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Binding_to_ABL_SH2-domain|ENST00000359540|protein_coding|1/22|c.1142G>A||||||,A|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000593306|processed_pseudogene||n.-1C>T|||||1824|,A|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000412037|processed_pseudogene||n.-1C>T|||||1930|,A|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000479188|processed_transcript|1/4|n.129+2270G>A|||||| 22 23524386 . C G . . ANN=G|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|1/23|c.1239C>G|p.Ile413Met|1990/7082|1239/3816|413/1271||,G|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000398512|protein_coding|1/2|c.1239C>G|p.Ile413Met|1835/2000|1239/1404|413/467||,G|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|1/22|c.1239C>G|p.Ile413Met|1835/4708|1239/3684|413/1227||,G|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000305877|protein_coding|1/23|c.1239C>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000359540|protein_coding|1/22|c.1239C>G||||||,G|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000593306|processed_pseudogene||n.-1G>C|||||1921|,G|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000412037|processed_pseudogene||n.-1G>C|||||2027|,G|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000479188|processed_transcript|1/4|n.129+2367C>G|||||| 22 23524402 . G A . . ANN=A|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|1/23|c.1255G>A|p.Glu419Lys|2006/7082|1255/3816|419/1271||,A|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000398512|protein_coding|1/2|c.1255G>A|p.Glu419Lys|1851/2000|1255/1404|419/467||,A|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|1/22|c.1255G>A|p.Glu419Lys|1851/4708|1255/3684|419/1227||,A|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000305877|protein_coding|1/23|c.1255G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000359540|protein_coding|1/22|c.1255G>A||||||,A|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000593306|processed_pseudogene||n.-1C>T|||||1937|,A|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000412037|processed_pseudogene||n.-1C>T|||||2043|,A|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000479188|processed_transcript|1/4|n.129+2383G>A|||||| 22 23524414 . C T . . ANN=T|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|1/23|c.1267C>T|p.His423Tyr|2018/7082|1267/3816|423/1271||,T|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000398512|protein_coding|1/2|c.1267C>T|p.His423Tyr|1863/2000|1267/1404|423/467||,T|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|1/22|c.1267C>T|p.His423Tyr|1863/4708|1267/3684|423/1227||,T|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000305877|protein_coding|1/23|c.1267C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000359540|protein_coding|1/22|c.1267C>T||||||,T|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000593306|processed_pseudogene||n.-1G>A|||||1949|,T|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000412037|processed_pseudogene||n.-1G>A|||||2055|,T|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000479188|processed_transcript|1/4|n.129+2395C>T|||||| 22 23524466 . G T . . ANN=T|sequence_feature|LOW|BCR|ENSG00000186716|site:Breakpoint_for_translocation_to_form_BCR-ABL_oncogene|ENST00000305877|protein_coding|1/23|c.1279+40G>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|site:Breakpoint_for_translocation_to_form_BCR-ABL_oncogene|ENST00000305877|protein_coding|2/23|c.1279+40G>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|site:Breakpoint_for_translocation_to_form_BCR-ABL_oncogene|ENST00000359540|protein_coding|1/22|c.1279+40G>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|site:Breakpoint_for_translocation_to_form_BCR-ABL_oncogene|ENST00000359540|protein_coding|2/22|c.1279+40G>T||||||,T|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000593306|processed_pseudogene||n.-1C>A|||||2001|,T|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000412037|processed_pseudogene||n.-1C>A|||||2107|,T|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|1/22|c.1279+40G>T||||||,T|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000479188|processed_transcript|1/4|n.129+2447G>T||||||,T|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000398512|protein_coding|1/1|c.1279+40G>T||||||,T|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|1/21|c.1279+40G>T|||||| 22 23524470 . AG A . . ANN=|sequence_feature|LOW|BCR|ENSG00000186716|site:Breakpoint_for_translocation_to_form_BCR-ABL_oncogene|ENST00000305877|protein_coding|1/23|c.1279+45delG||||||,|sequence_feature|LOW|BCR|ENSG00000186716|site:Breakpoint_for_translocation_to_form_BCR-ABL_oncogene|ENST00000305877|protein_coding|2/23|c.1279+45delG||||||,|sequence_feature|LOW|BCR|ENSG00000186716|site:Breakpoint_for_translocation_to_form_BCR-ABL_oncogene|ENST00000359540|protein_coding|1/22|c.1279+45delG||||||,|sequence_feature|LOW|BCR|ENSG00000186716|site:Breakpoint_for_translocation_to_form_BCR-ABL_oncogene|ENST00000359540|protein_coding|2/22|c.1279+45delG||||||,|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000593306|processed_pseudogene||n.-1delC|||||2006|,|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000412037|processed_pseudogene||n.-1delC|||||2112|,|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|1/22|c.1279+46delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000479188|processed_transcript|1/4|n.129+2453delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000398512|protein_coding|1/1|c.1279+46delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|1/21|c.1279+46delG||||||INFO_REALIGN_3_PRIME 22 23595996 . C T . . ANN=T|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|2/23|c.1290C>T|p.Phe430Phe|2041/7082|1290/3816|430/1271||,T|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|2/22|c.1290C>T|p.Phe430Phe|1886/4708|1290/3684|430/1227||,T|upstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000427791|protein_coding||c.-1C>T|||||151|WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000479188|processed_transcript|3/5|n.308C>T||||||,T|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000463770|processed_transcript|2/2|n.144C>T||||||,T|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000487679|processed_transcript|3/3|n.207C>T||||||,T|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000480973|processed_transcript|2/4|n.220C>T|||||| 22 23596073 . T C . . ANN=C|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|2/23|c.1367T>C|p.Ile456Thr|2118/7082|1367/3816|456/1271||,C|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|2/22|c.1367T>C|p.Ile456Thr|1963/4708|1367/3684|456/1227||,C|upstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000427791|protein_coding||c.-1T>C|||||74|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000463770|processed_transcript||n.*168T>C|||||53|,C|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000487679|processed_transcript||n.*231T>C|||||53|,C|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000479188|processed_transcript|3/5|n.385T>C||||||,C|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000480973|processed_transcript|2/4|n.297T>C|||||| 22 23596134 . G A . . ANN=A|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|2/23|c.1428G>A|p.Ala476Ala|2179/7082|1428/3816|476/1271||,A|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|2/22|c.1428G>A|p.Ala476Ala|2024/4708|1428/3684|476/1227||,A|upstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000427791|protein_coding||c.-1G>A|||||13|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000463770|processed_transcript||n.*168G>A|||||114|,A|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000487679|processed_transcript||n.*231G>A|||||114|,A|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000479188|processed_transcript|3/5|n.446G>A||||||,A|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000480973|processed_transcript|2/4|n.358G>A|||||| 22 23596167 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|2/23|c.1461G>A|p.Ala487Ala|2212/7082|1461/3816|487/1271||,A|splice_region_variant&non_coding_exon_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000479188|processed_transcript|3/5|n.479G>A||||||,A|splice_region_variant&synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|2/22|c.1461G>A|p.Ala487Ala|2057/4708|1461/3684|487/1227||,A|splice_region_variant&non_coding_exon_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000480973|processed_transcript|2/4|n.391G>A||||||,A|splice_region_variant&synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000427791|protein_coding|1/8|c.21G>A|p.Ala7Ala|21/771|21/771|7/256||WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000463770|processed_transcript||n.*168G>A|||||147|,A|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000487679|processed_transcript||n.*231G>A|||||147| 22 23603272 . G A . . ANN=A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|4/23|c.1566+31G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|8/23|c.1566+31G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|3/23|c.1566+31G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|5/23|c.1566+31G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|6/23|c.1566+31G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|7/23|c.1566+31G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|4/22|c.1566+31G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|8/22|c.1566+31G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|3/22|c.1566+31G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|5/22|c.1566+31G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|6/22|c.1566+31G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|7/22|c.1566+31G>A||||||,A|upstream_gene_variant|MODIFIER|FBXW4P1|ENSG00000230701|transcript|ENST00000426721|processed_pseudogene||n.-1G>A|||||2051|,A|downstream_gene_variant|MODIFIER|RN7SL263P|ENSG00000240160|transcript|ENST00000467969|misc_RNA||n.*288C>T|||||699|,A|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|3/22|c.1566+31G>A||||||,A|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000479188|processed_transcript|4/4|n.584+31G>A||||||,A|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|3/21|c.1566+31G>A||||||,A|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000480973|processed_transcript|3/3|n.496+31G>A||||||,A|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000427791|protein_coding|2/7|c.126+31G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 23603559 . A G . . ANN=G|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|4/23|c.1584A>G|p.Lys528Lys|2335/7082|1584/3816|528/1271||,G|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|4/22|c.1584A>G|p.Lys528Lys|2180/4708|1584/3684|528/1227||,G|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000427791|protein_coding|3/8|c.144A>G|p.Lys48Lys|144/771|144/771|48/256||WARNING_TRANSCRIPT_NO_START_CODON,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|4/23|c.1584A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|8/23|c.1584A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|3/23|c.1584A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|5/23|c.1584A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|6/23|c.1584A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|7/23|c.1584A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|4/22|c.1584A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|8/22|c.1584A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|3/22|c.1584A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|5/22|c.1584A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|6/22|c.1584A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|7/22|c.1584A>G||||||,G|upstream_gene_variant|MODIFIER|FBXW4P1|ENSG00000230701|transcript|ENST00000426721|processed_pseudogene||n.-1A>G|||||1764|,G|downstream_gene_variant|MODIFIER|RN7SL263P|ENSG00000240160|transcript|ENST00000467969|misc_RNA||n.*288T>C|||||412|,G|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000479188|processed_transcript|5/5|n.602A>G||||||,G|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000480973|processed_transcript|4/4|n.514A>G|||||| 22 23603684 . A G . . ANN=G|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|4/23|c.1709A>G|p.Gln570Arg|2460/7082|1709/3816|570/1271||,G|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|4/22|c.1709A>G|p.Gln570Arg|2305/4708|1709/3684|570/1227||,G|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000427791|protein_coding|3/8|c.269A>G|p.Gln90Arg|269/771|269/771|90/256||WARNING_TRANSCRIPT_NO_START_CODON,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|4/23|c.1709A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|8/23|c.1709A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|3/23|c.1709A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|5/23|c.1709A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|6/23|c.1709A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|7/23|c.1709A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|4/22|c.1709A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|8/22|c.1709A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|3/22|c.1709A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|5/22|c.1709A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|6/22|c.1709A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|7/22|c.1709A>G||||||,G|upstream_gene_variant|MODIFIER|FBXW4P1|ENSG00000230701|transcript|ENST00000426721|processed_pseudogene||n.-1A>G|||||1639|,G|downstream_gene_variant|MODIFIER|RN7SL263P|ENSG00000240160|transcript|ENST00000467969|misc_RNA||n.*288T>C|||||287|,G|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000479188|processed_transcript||n.*658A>G|||||69|,G|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000480973|processed_transcript||n.*535A>G|||||104| 22 23603727 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|4/23|c.1752G>A|p.Leu584Leu|2503/7082|1752/3816|584/1271||,A|splice_region_variant&synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|4/22|c.1752G>A|p.Leu584Leu|2348/4708|1752/3684|584/1227||,A|splice_region_variant&synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000427791|protein_coding|3/8|c.312G>A|p.Leu104Leu|312/771|312/771|104/256||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|4/23|c.1752G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|8/23|c.1752G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|3/23|c.1752G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|5/23|c.1752G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|6/23|c.1752G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|7/23|c.1752G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|4/22|c.1752G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|8/22|c.1752G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|3/22|c.1752G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|5/22|c.1752G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|6/22|c.1752G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|7/22|c.1752G>A||||||,A|upstream_gene_variant|MODIFIER|FBXW4P1|ENSG00000230701|transcript|ENST00000426721|processed_pseudogene||n.-1G>A|||||1596|,A|downstream_gene_variant|MODIFIER|RN7SL263P|ENSG00000240160|transcript|ENST00000467969|misc_RNA||n.*288C>T|||||244|,A|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000479188|processed_transcript||n.*658G>A|||||112|,A|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000480973|processed_transcript||n.*535G>A|||||147| 22 23603744 . C T . . ANN=T|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|4/23|c.1752+17C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|8/23|c.1752+17C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|3/23|c.1752+17C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|5/23|c.1752+17C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|6/23|c.1752+17C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|7/23|c.1752+17C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|4/22|c.1752+17C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|8/22|c.1752+17C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|3/22|c.1752+17C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|5/22|c.1752+17C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|6/22|c.1752+17C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|7/22|c.1752+17C>T||||||,T|upstream_gene_variant|MODIFIER|FBXW4P1|ENSG00000230701|transcript|ENST00000426721|processed_pseudogene||n.-1C>T|||||1579|,T|downstream_gene_variant|MODIFIER|RN7SL263P|ENSG00000240160|transcript|ENST00000467969|misc_RNA||n.*288G>A|||||227|,T|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000479188|processed_transcript||n.*658C>T|||||129|,T|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000480973|processed_transcript||n.*535C>T|||||164|,T|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|4/22|c.1752+17C>T||||||,T|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|4/21|c.1752+17C>T||||||,T|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000427791|protein_coding|3/7|c.312+17C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 23603746 . G A . . ANN=A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|4/23|c.1752+19G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|8/23|c.1752+19G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|3/23|c.1752+19G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|5/23|c.1752+19G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|6/23|c.1752+19G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|7/23|c.1752+19G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|4/22|c.1752+19G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|8/22|c.1752+19G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|3/22|c.1752+19G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|5/22|c.1752+19G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|6/22|c.1752+19G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|7/22|c.1752+19G>A||||||,A|upstream_gene_variant|MODIFIER|FBXW4P1|ENSG00000230701|transcript|ENST00000426721|processed_pseudogene||n.-1G>A|||||1577|,A|downstream_gene_variant|MODIFIER|RN7SL263P|ENSG00000240160|transcript|ENST00000467969|misc_RNA||n.*288C>T|||||225|,A|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000479188|processed_transcript||n.*658G>A|||||131|,A|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000480973|processed_transcript||n.*535G>A|||||166|,A|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|4/22|c.1752+19G>A||||||,A|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|4/21|c.1752+19G>A||||||,A|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000427791|protein_coding|3/7|c.312+19G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 23603775 . G A . . ANN=A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|4/23|c.1752+48G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|8/23|c.1752+48G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|3/23|c.1752+48G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|5/23|c.1752+48G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|6/23|c.1752+48G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|7/23|c.1752+48G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|4/22|c.1752+48G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|8/22|c.1752+48G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|3/22|c.1752+48G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|5/22|c.1752+48G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|6/22|c.1752+48G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|7/22|c.1752+48G>A||||||,A|upstream_gene_variant|MODIFIER|FBXW4P1|ENSG00000230701|transcript|ENST00000426721|processed_pseudogene||n.-1G>A|||||1548|,A|downstream_gene_variant|MODIFIER|RN7SL263P|ENSG00000240160|transcript|ENST00000467969|misc_RNA||n.*288C>T|||||196|,A|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000479188|processed_transcript||n.*658G>A|||||160|,A|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000480973|processed_transcript||n.*535G>A|||||195|,A|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|4/22|c.1752+48G>A||||||,A|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|4/21|c.1752+48G>A||||||,A|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000427791|protein_coding|3/7|c.312+48G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 23610564 . G GTCCCACTCTCTCTTCCTTCC . . ANN=ACTCTCTCTTCCTTCCTCCC|splice_region_variant&intron_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|4/22|c.1753-26_1753-7dupACTCTCTCTTCCTTCCTCCC||||||INFO_REALIGN_3_PRIME,ACTCTCTCTTCCTTCCTCCC|splice_region_variant&intron_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|4/21|c.1753-26_1753-7dupACTCTCTCTTCCTTCCTCCC||||||INFO_REALIGN_3_PRIME,TCCCACTCTCTCTTCCTTCC|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|4/23|c.1753-31_1753-30insTCCCACTCTCTCTTCCTTCC||||||,TCCCACTCTCTCTTCCTTCC|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|8/23|c.1753-31_1753-30insTCCCACTCTCTCTTCCTTCC||||||,TCCCACTCTCTCTTCCTTCC|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|3/23|c.1753-31_1753-30insTCCCACTCTCTCTTCCTTCC||||||,TCCCACTCTCTCTTCCTTCC|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|5/23|c.1753-31_1753-30insTCCCACTCTCTCTTCCTTCC||||||,TCCCACTCTCTCTTCCTTCC|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|6/23|c.1753-31_1753-30insTCCCACTCTCTCTTCCTTCC||||||,TCCCACTCTCTCTTCCTTCC|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|7/23|c.1753-31_1753-30insTCCCACTCTCTCTTCCTTCC||||||,TCCCACTCTCTCTTCCTTCC|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|4/22|c.1753-31_1753-30insTCCCACTCTCTCTTCCTTCC||||||,TCCCACTCTCTCTTCCTTCC|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|8/22|c.1753-31_1753-30insTCCCACTCTCTCTTCCTTCC||||||,TCCCACTCTCTCTTCCTTCC|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|3/22|c.1753-31_1753-30insTCCCACTCTCTCTTCCTTCC||||||,TCCCACTCTCTCTTCCTTCC|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|5/22|c.1753-31_1753-30insTCCCACTCTCTCTTCCTTCC||||||,TCCCACTCTCTCTTCCTTCC|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|6/22|c.1753-31_1753-30insTCCCACTCTCTCTTCCTTCC||||||,TCCCACTCTCTCTTCCTTCC|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|7/22|c.1753-31_1753-30insTCCCACTCTCTCTTCCTTCC||||||,TCCCACTCTCTCTTCCTTCC|downstream_gene_variant|MODIFIER|FBXW4P1|ENSG00000230701|transcript|ENST00000426721|processed_pseudogene||n.*1219_*1219insTCCCACTCTCTCTTCCTTCC|||||4024|,ACTCTCTCTTCCTTCCTCCC|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000427791|protein_coding|3/7|c.313-3150_313-3131dupACTCTCTCTTCCTTCCTCCC||||||WARNING_TRANSCRIPT_NO_START_CODON&INFO_REALIGN_3_PRIME 22 23610624 . C T . . ANN=T|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|5/23|c.1782C>T|p.Phe594Phe|2533/7082|1782/3816|594/1271||,T|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|5/22|c.1782C>T|p.Phe594Phe|2378/4708|1782/3684|594/1227||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|4/23|c.1782C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|8/23|c.1782C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|3/23|c.1782C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|5/23|c.1782C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|6/23|c.1782C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|7/23|c.1782C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|4/22|c.1782C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|8/22|c.1782C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|3/22|c.1782C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|5/22|c.1782C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|6/22|c.1782C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|7/22|c.1782C>T||||||,T|downstream_gene_variant|MODIFIER|FBXW4P1|ENSG00000230701|transcript|ENST00000426721|processed_pseudogene||n.*1219C>T|||||4083|,T|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000427791|protein_coding|3/7|c.313-3095C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 23610645 . C A . . ANN=A|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|5/23|c.1803C>A|p.Ala601Ala|2554/7082|1803/3816|601/1271||,A|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|5/22|c.1803C>A|p.Ala601Ala|2399/4708|1803/3684|601/1227||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|4/23|c.1803C>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|8/23|c.1803C>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|3/23|c.1803C>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|5/23|c.1803C>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|6/23|c.1803C>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|7/23|c.1803C>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|4/22|c.1803C>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|8/22|c.1803C>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|3/22|c.1803C>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|5/22|c.1803C>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|6/22|c.1803C>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|7/22|c.1803C>A||||||,A|downstream_gene_variant|MODIFIER|FBXW4P1|ENSG00000230701|transcript|ENST00000426721|processed_pseudogene||n.*1219C>A|||||4104|,A|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000427791|protein_coding|3/7|c.313-3074C>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 23615254 . C A . . ANN=A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|4/23|c.1922-14C>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|8/23|c.1922-14C>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|3/23|c.1922-14C>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|5/23|c.1922-14C>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|6/23|c.1922-14C>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|7/23|c.1922-14C>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|4/22|c.1922-14C>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|8/22|c.1922-14C>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|3/22|c.1922-14C>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|5/22|c.1922-14C>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|6/22|c.1922-14C>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|7/22|c.1922-14C>A||||||,A|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|6/22|c.1922-14C>A||||||,A|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|6/21|c.1922-14C>A||||||,A|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000427791|protein_coding|4/7|c.374-14C>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 23615346 . G A . . ANN=A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|4/23|c.1974+26G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|8/23|c.1974+26G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|3/23|c.1974+26G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|5/23|c.1974+26G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|6/23|c.1974+26G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|7/23|c.1974+26G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|4/22|c.1974+26G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|8/22|c.1974+26G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|3/22|c.1974+26G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|5/22|c.1974+26G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|6/22|c.1974+26G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|7/22|c.1974+26G>A||||||,A|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|7/22|c.1974+26G>A||||||,A|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|7/21|c.1974+26G>A||||||,A|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000427791|protein_coding|5/7|c.426+26G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 23615801 . A G . . ANN=G|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|4/23|c.1975-20A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|8/23|c.1975-20A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|3/23|c.1975-20A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|5/23|c.1975-20A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|6/23|c.1975-20A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|7/23|c.1975-20A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|4/22|c.1975-20A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|8/22|c.1975-20A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|3/22|c.1975-20A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|5/22|c.1975-20A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|6/22|c.1975-20A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|7/22|c.1975-20A>G||||||,G|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|7/22|c.1975-20A>G||||||,G|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|7/21|c.1975-20A>G||||||,G|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000427791|protein_coding|5/7|c.427-20A>G||||||WARNING_TRANSCRIPT_NO_START_CODON 22 23615940 . C T . . ANN=T|sequence_feature|MODERATE|BCR|ENSG00000186716|amino_acid_modification:Phosphoserine|ENST00000305877|protein_coding|8/23|c.2094C>T||||||,T|sequence_feature|MODERATE|BCR|ENSG00000186716|amino_acid_modification:Phosphoserine|ENST00000359540|protein_coding|8/22|c.2094C>T||||||,T|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|8/23|c.2094C>T|p.Ser698Ser|2845/7082|2094/3816|698/1271||,T|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|8/22|c.2094C>T|p.Ser698Ser|2690/4708|2094/3684|698/1227||,T|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000427791|protein_coding|6/8|c.546C>T|p.Ser182Ser|546/771|546/771|182/256||WARNING_TRANSCRIPT_NO_START_CODON 22 23615946 . G A . . ANN=A|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|8/23|c.2100G>A|p.Thr700Thr|2851/7082|2100/3816|700/1271||,A|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|8/22|c.2100G>A|p.Thr700Thr|2696/4708|2100/3684|700/1227||,A|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000427791|protein_coding|6/8|c.552G>A|p.Thr184Thr|552/771|552/771|184/256||WARNING_TRANSCRIPT_NO_START_CODON 22 23615971 . G C . . ANN=C|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|8/22|c.2115+10G>C||||||,C|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|8/21|c.2115+10G>C||||||,C|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000427791|protein_coding|6/7|c.567+10G>C||||||WARNING_TRANSCRIPT_NO_START_CODON 22 23615982 . C T . . ANN=T|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|8/22|c.2115+21C>T||||||,T|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|8/21|c.2115+21C>T||||||,T|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000427791|protein_coding|6/7|c.567+21C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 23626134 . C T . . ANN=T|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|8/22|c.2116-30C>T||||||,T|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|8/21|c.2116-30C>T||||||,T|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000427791|protein_coding|6/7|c.568-30C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000487968|retained_intron|1/5|n.739C>T||||||,T|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000466076|retained_intron|1/3|n.160C>T|||||| 22 23626157 . C A . . ANN=A|splice_region_variant&intron_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|8/22|c.2116-7C>A||||||,A|splice_region_variant&intron_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|8/21|c.2116-7C>A||||||,A|splice_region_variant&intron_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000427791|protein_coding|6/7|c.568-7C>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000487968|retained_intron|1/5|n.762C>A||||||,A|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000466076|retained_intron|1/3|n.183C>A|||||| 22 23626202 . G T . . ANN=T|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|9/23|c.2154G>T|p.Leu718Leu|2905/7082|2154/3816|718/1271||,T|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|9/22|c.2154G>T|p.Leu718Leu|2750/4708|2154/3684|718/1227||,T|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000427791|protein_coding|7/8|c.606G>T|p.Leu202Leu|606/771|606/771|202/256||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|9/23|c.2154G>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|11/23|c.2154G>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|12/23|c.2154G>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|10/23|c.2154G>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|9/22|c.2154G>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|11/22|c.2154G>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|12/22|c.2154G>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|10/22|c.2154G>T||||||,T|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000487968|retained_intron|1/5|n.807G>T||||||,T|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000466076|retained_intron|1/3|n.228G>T|||||| 22 23626230 . G A . . ANN=A|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|9/23|c.2182G>A|p.Val728Ile|2933/7082|2182/3816|728/1271||,A|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|9/22|c.2182G>A|p.Val728Ile|2778/4708|2182/3684|728/1227||,A|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000427791|protein_coding|7/8|c.634G>A|p.Val212Ile|634/771|634/771|212/256||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|9/23|c.2182G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|11/23|c.2182G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|12/23|c.2182G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|10/23|c.2182G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|9/22|c.2182G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|11/22|c.2182G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|12/22|c.2182G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|10/22|c.2182G>A||||||,A|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000487968|retained_intron|1/5|n.835G>A||||||,A|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000466076|retained_intron|1/3|n.256G>A|||||| 22 23627171 . C T . . ANN=T|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|9/23|c.2238-49C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|11/23|c.2238-49C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|12/23|c.2238-49C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|10/23|c.2238-49C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|9/22|c.2238-49C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|11/22|c.2238-49C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|12/22|c.2238-49C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|10/22|c.2238-49C>T||||||,T|upstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000419722|processed_transcript||n.-1C>T|||||4631|,T|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|9/22|c.2238-49C>T||||||,T|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|9/21|c.2238-49C>T||||||,T|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000427791|protein_coding|7/7|c.690-49C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000487968|retained_intron|1/4|n.891-49C>T||||||,T|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000466076|retained_intron|1/2|n.312-49C>T|||||| 22 23627173 . T C . . ANN=C|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|9/23|c.2238-47T>C||||||,C|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|11/23|c.2238-47T>C||||||,C|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|12/23|c.2238-47T>C||||||,C|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|10/23|c.2238-47T>C||||||,C|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|9/22|c.2238-47T>C||||||,C|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|11/22|c.2238-47T>C||||||,C|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|12/22|c.2238-47T>C||||||,C|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|10/22|c.2238-47T>C||||||,C|upstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000419722|processed_transcript||n.-1T>C|||||4629|,C|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|9/22|c.2238-47T>C||||||,C|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|9/21|c.2238-47T>C||||||,C|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000427791|protein_coding|7/7|c.690-47T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000487968|retained_intron|1/4|n.891-47T>C||||||,C|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000466076|retained_intron|1/2|n.312-47T>C|||||| 22 23627225 . C T . . ANN=T|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|10/23|c.2243C>T|p.Thr748Met|2994/7082|2243/3816|748/1271||,T|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|10/22|c.2243C>T|p.Thr748Met|2839/4708|2243/3684|748/1227||,T|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000427791|protein_coding|8/8|c.695C>T|p.Thr232Met|695/771|695/771|232/256||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|9/23|c.2243C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|11/23|c.2243C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|12/23|c.2243C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|10/23|c.2243C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|9/22|c.2243C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|11/22|c.2243C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|12/22|c.2243C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|10/22|c.2243C>T||||||,T|upstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000419722|processed_transcript||n.-1C>T|||||4577|,T|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000487968|retained_intron|2/5|n.896C>T||||||,T|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000466076|retained_intron|2/3|n.317C>T|||||| 22 23627238 . C A . . ANN=A|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|10/23|c.2256C>A|p.Asp752Glu|3007/7082|2256/3816|752/1271||,A|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|10/22|c.2256C>A|p.Asp752Glu|2852/4708|2256/3684|752/1227||,A|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000427791|protein_coding|8/8|c.708C>A|p.Asp236Glu|708/771|708/771|236/256||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|9/23|c.2256C>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|11/23|c.2256C>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|12/23|c.2256C>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|10/23|c.2256C>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|9/22|c.2256C>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|11/22|c.2256C>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|12/22|c.2256C>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|10/22|c.2256C>A||||||,A|upstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000419722|processed_transcript||n.-1C>A|||||4564|,A|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000487968|retained_intron|2/5|n.909C>A||||||,A|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000466076|retained_intron|2/3|n.330C>A|||||| 22 23627249 . A G . . ANN=G|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|10/23|c.2267A>G|p.Tyr756Cys|3018/7082|2267/3816|756/1271||,G|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|10/22|c.2267A>G|p.Tyr756Cys|2863/4708|2267/3684|756/1227||,G|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000427791|protein_coding|8/8|c.719A>G|p.Tyr240Cys|719/771|719/771|240/256||WARNING_TRANSCRIPT_NO_START_CODON,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|9/23|c.2267A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|11/23|c.2267A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|12/23|c.2267A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|10/23|c.2267A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|9/22|c.2267A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|11/22|c.2267A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|12/22|c.2267A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|10/22|c.2267A>G||||||,G|upstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000419722|processed_transcript||n.-1A>G|||||4553|,G|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000487968|retained_intron|2/5|n.920A>G||||||,G|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000466076|retained_intron|2/3|n.341A>G|||||| 22 23627256 . G A . . ANN=A|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|10/23|c.2274G>A|p.Pro758Pro|3025/7082|2274/3816|758/1271||,A|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|10/22|c.2274G>A|p.Pro758Pro|2870/4708|2274/3684|758/1227||,A|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000427791|protein_coding|8/8|c.726G>A|p.Pro242Pro|726/771|726/771|242/256||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|9/23|c.2274G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|11/23|c.2274G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|12/23|c.2274G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|10/23|c.2274G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|9/22|c.2274G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|11/22|c.2274G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|12/22|c.2274G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|10/22|c.2274G>A||||||,A|upstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000419722|processed_transcript||n.-1G>A|||||4546|,A|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000487968|retained_intron|2/5|n.927G>A||||||,A|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000466076|retained_intron|2/3|n.348G>A|||||| 22 23627369 . A G . . ANN=G|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|10/23|c.2387A>G|p.Asn796Ser|3138/7082|2387/3816|796/1271||,G|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|10/22|c.2387A>G|p.Asn796Ser|2983/4708|2387/3684|796/1227||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|9/23|c.2387A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|11/23|c.2387A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|12/23|c.2387A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|10/23|c.2387A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|9/22|c.2387A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|11/22|c.2387A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|12/22|c.2387A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|10/22|c.2387A>G||||||,G|upstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000419722|processed_transcript||n.-1A>G|||||4433|,G|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000427791|protein_coding||c.*771A>G|||||68|WARNING_TRANSCRIPT_NO_START_CODON,G|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000487968|retained_intron|2/5|n.1040A>G||||||,G|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000466076|retained_intron|2/3|n.461A>G|||||| 22 23629306 . C T . . ANN=T|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|9/23|c.2407-40C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|11/23|c.2407-40C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|12/23|c.2407-40C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|10/23|c.2407-40C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|9/22|c.2407-40C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|11/22|c.2407-40C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|12/22|c.2407-40C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|10/22|c.2407-40C>T||||||,T|upstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000419722|processed_transcript||n.-1C>T|||||2496|,T|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000427791|protein_coding||c.*771C>T|||||2005|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|10/22|c.2407-40C>T||||||,T|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|10/21|c.2407-40C>T||||||,T|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000487968|retained_intron|2/4|n.1060-40C>T||||||,T|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000466076|retained_intron|2/2|n.481-40C>T|||||| 22 23629372 . G A . . ANN=A|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|11/23|c.2433G>A|p.Thr811Thr|3184/7082|2433/3816|811/1271||,A|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|11/22|c.2433G>A|p.Thr811Thr|3029/4708|2433/3684|811/1227||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|9/23|c.2433G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|11/23|c.2433G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|12/23|c.2433G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|10/23|c.2433G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|9/22|c.2433G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|11/22|c.2433G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|12/22|c.2433G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|10/22|c.2433G>A||||||,A|upstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000419722|processed_transcript||n.-1G>A|||||2430|,A|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000427791|protein_coding||c.*771G>A|||||2071|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000466076|retained_intron||n.*495G>A|||||12|,A|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000487968|retained_intron|3/5|n.1086G>A|||||| 22 23629472 . G T . . ANN=T|splice_region_variant&intron_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|11/22|c.2526+7G>T||||||,T|splice_region_variant&intron_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|11/21|c.2526+7G>T||||||,T|splice_region_variant&intron_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000487968|retained_intron|3/4|n.1179+7G>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|9/23|c.2526+7G>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|11/23|c.2526+7G>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|12/23|c.2526+7G>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|10/23|c.2526+7G>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|9/22|c.2526+7G>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|11/22|c.2526+7G>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|12/22|c.2526+7G>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|10/22|c.2526+7G>T||||||,T|upstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000419722|processed_transcript||n.-1G>T|||||2330|,T|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000427791|protein_coding||c.*771G>T|||||2171|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000466076|retained_intron||n.*495G>T|||||112| 22 23629476 . G C . . ANN=C|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|9/23|c.2526+11G>C||||||,C|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|11/23|c.2526+11G>C||||||,C|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|12/23|c.2526+11G>C||||||,C|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|10/23|c.2526+11G>C||||||,C|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|9/22|c.2526+11G>C||||||,C|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|11/22|c.2526+11G>C||||||,C|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|12/22|c.2526+11G>C||||||,C|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|10/22|c.2526+11G>C||||||,C|upstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000419722|processed_transcript||n.-1G>C|||||2326|,C|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000427791|protein_coding||c.*771G>C|||||2175|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000466076|retained_intron||n.*495G>C|||||116|,C|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|11/22|c.2526+11G>C||||||,C|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|11/21|c.2526+11G>C||||||,C|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000487968|retained_intron|3/4|n.1179+11G>C|||||| 22 23630236 . C G . . ANN=G|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|9/23|c.2527-48C>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|11/23|c.2527-48C>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|12/23|c.2527-48C>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|10/23|c.2527-48C>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|9/22|c.2527-48C>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|11/22|c.2527-48C>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|12/22|c.2527-48C>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|10/22|c.2527-48C>G||||||,G|upstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000419722|processed_transcript||n.-1C>G|||||1566|,G|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000427791|protein_coding||c.*771C>G|||||2935|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000466076|retained_intron||n.*495C>G|||||876|,G|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|11/22|c.2527-48C>G||||||,G|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|11/21|c.2527-48C>G||||||,G|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000487968|retained_intron|3/4|n.1180-48C>G|||||| 22 23630243 . A G . . ANN=G|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|9/23|c.2527-41A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|11/23|c.2527-41A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|12/23|c.2527-41A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|10/23|c.2527-41A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|9/22|c.2527-41A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|11/22|c.2527-41A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|12/22|c.2527-41A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|10/22|c.2527-41A>G||||||,G|upstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000419722|processed_transcript||n.-1A>G|||||1559|,G|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000427791|protein_coding||c.*771A>G|||||2942|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000466076|retained_intron||n.*495A>G|||||883|,G|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|11/22|c.2527-41A>G||||||,G|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|11/21|c.2527-41A>G||||||,G|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000487968|retained_intron|3/4|n.1180-41A>G|||||| 22 23630313 . T C . . ANN=C|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|12/23|c.2556T>C|p.Tyr852Tyr|3307/7082|2556/3816|852/1271||,C|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|12/22|c.2556T>C|p.Tyr852Tyr|3152/4708|2556/3684|852/1227||,C|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|9/23|c.2556T>C||||||,C|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|11/23|c.2556T>C||||||,C|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|12/23|c.2556T>C||||||,C|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|10/23|c.2556T>C||||||,C|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|9/22|c.2556T>C||||||,C|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|11/22|c.2556T>C||||||,C|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|12/22|c.2556T>C||||||,C|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|10/22|c.2556T>C||||||,C|upstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000419722|processed_transcript||n.-1T>C|||||1489|,C|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000427791|protein_coding||c.*771T>C|||||3012|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000466076|retained_intron||n.*495T>C|||||953|,C|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000487968|retained_intron|4/5|n.1209T>C|||||| 22 23630399 . C T . . ANN=T|upstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000419722|processed_transcript||n.-1C>T|||||1403|,T|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000427791|protein_coding||c.*771C>T|||||3098|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000466076|retained_intron||n.*495C>T|||||1039|,T|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|12/22|c.2602+40C>T||||||,T|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|12/21|c.2602+40C>T||||||,T|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000487968|retained_intron|4/4|n.1255+40C>T|||||| 22 23631657 . C G . . ANN=G|upstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000419722|processed_transcript||n.-1C>G|||||145|,G|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000427791|protein_coding||c.*771C>G|||||4356|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000466076|retained_intron||n.*495C>G|||||2297|,G|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|12/22|c.2603-47C>G||||||,G|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|12/21|c.2603-47C>G||||||,G|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000487968|retained_intron|4/4|n.1256-47C>G|||||| 22 23631801 . T C . . ANN=C|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|13/23|c.2700T>C|p.Asn900Asn|3451/7082|2700/3816|900/1271||,C|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|13/22|c.2700T>C|p.Asn900Asn|3296/4708|2700/3684|900/1227||,C|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|13/23|c.2700T>C||||||,C|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|14/23|c.2700T>C||||||,C|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|15/23|c.2700T>C||||||,C|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|16/23|c.2700T>C||||||,C|upstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000419722|processed_transcript||n.-1T>C|||||1|,C|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000427791|protein_coding||c.*771T>C|||||4500|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000466076|retained_intron||n.*495T>C|||||2441|,C|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000487968|retained_intron|5/5|n.1353T>C|||||| 22 23631813 . G GC . . ANN=C|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|13/23|c.2707+5_2707+6insC||||||,C|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|14/23|c.2707+5_2707+6insC||||||,C|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|15/23|c.2707+5_2707+6insC||||||,C|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|16/23|c.2707+5_2707+6insC||||||,C|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000427791|protein_coding||c.*771_*771insC|||||4513|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000466076|retained_intron||n.*495_*495insC|||||2454|,C|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|13/22|c.2707+12dupC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|13/21|c.2707+12dupC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000419722|processed_transcript|1/4|n.7+12dupC||||||INFO_REALIGN_3_PRIME,C|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000487968|retained_intron|5/5|n.1372dupC||||||INFO_REALIGN_3_PRIME 22 23631823 . T C . . ANN=C|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|13/23|c.2707+15T>C||||||,C|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|14/23|c.2707+15T>C||||||,C|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|15/23|c.2707+15T>C||||||,C|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|16/23|c.2707+15T>C||||||,C|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000427791|protein_coding||c.*771T>C|||||4522|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000466076|retained_intron||n.*495T>C|||||2463|,C|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|13/22|c.2707+15T>C||||||,C|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|13/21|c.2707+15T>C||||||,C|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000419722|processed_transcript|1/4|n.7+15T>C||||||,C|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000487968|retained_intron|5/5|n.1375T>C|||||| 22 23631855 . G A . . ANN=A|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|13/23|c.2707+47G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|14/23|c.2707+47G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|15/23|c.2707+47G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|16/23|c.2707+47G>A||||||,A|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000427791|protein_coding||c.*771G>A|||||4554|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000466076|retained_intron||n.*495G>A|||||2495|,A|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|13/22|c.2707+47G>A||||||,A|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|13/21|c.2707+47G>A||||||,A|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000419722|processed_transcript|1/4|n.7+47G>A||||||,A|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000487968|retained_intron|5/5|n.1407G>A|||||| 22 23632513 . A G . . ANN=G|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|13/23|c.2708-13A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|14/23|c.2708-13A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|15/23|c.2708-13A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|16/23|c.2708-13A>G||||||,G|upstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000471452|processed_transcript||n.-1A>G|||||4715|,G|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000466076|retained_intron||n.*495A>G|||||3153|,G|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|13/22|c.2708-13A>G||||||,G|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|13/21|c.2708-13A>G||||||,G|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000419722|processed_transcript|1/4|n.7+705A>G||||||,G|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000487968|retained_intron|5/5|n.2065A>G|||||| 22 23632547 . A G . . ANN=G|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|14/23|c.2729A>G|p.Tyr910Cys|3480/7082|2729/3816|910/1271||,G|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|14/22|c.2729A>G|p.Tyr910Cys|3325/4708|2729/3684|910/1227||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|13/23|c.2729A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|14/23|c.2729A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|15/23|c.2729A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|16/23|c.2729A>G||||||,G|upstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000471452|processed_transcript||n.-1A>G|||||4681|,G|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000466076|retained_intron||n.*495A>G|||||3187|,G|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000419722|processed_transcript|1/4|n.7+739A>G||||||,G|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000487968|retained_intron|5/5|n.2099A>G|||||| 22 23632621 . G C . . ANN=C|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|13/23|c.2782+21G>C||||||,C|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|14/23|c.2782+21G>C||||||,C|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|15/23|c.2782+21G>C||||||,C|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|16/23|c.2782+21G>C||||||,C|upstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000471452|processed_transcript||n.-1G>C|||||4607|,C|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000466076|retained_intron||n.*495G>C|||||3261|,C|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|14/22|c.2782+21G>C||||||,C|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|14/21|c.2782+21G>C||||||,C|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000419722|processed_transcript|1/4|n.7+813G>C||||||,C|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000487968|retained_intron|5/5|n.2173G>C|||||| 22 23632636 . C A . . ANN=A|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|13/23|c.2782+36C>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|14/23|c.2782+36C>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|15/23|c.2782+36C>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|16/23|c.2782+36C>A||||||,A|upstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000471452|processed_transcript||n.-1C>A|||||4592|,A|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000466076|retained_intron||n.*495C>A|||||3276|,A|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|14/22|c.2782+36C>A||||||,A|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|14/21|c.2782+36C>A||||||,A|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000419722|processed_transcript|1/4|n.7+828C>A||||||,A|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000487968|retained_intron|5/5|n.2188C>A|||||| 22 23634713 . C T . . ANN=T|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|13/23|c.2783-15C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|14/23|c.2783-15C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|15/23|c.2783-15C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|16/23|c.2783-15C>T||||||,T|upstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000471452|processed_transcript||n.-1C>T|||||2515|,T|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000487968|retained_intron||n.*2870C>T|||||1395|,T|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|14/22|c.2783-15C>T||||||,T|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|14/21|c.2783-15C>T||||||,T|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000419722|processed_transcript|1/4|n.8-15C>T|||||| 22 23634753 . T C . . ANN=C|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|15/23|c.2808T>C|p.Asp936Asp|3559/7082|2808/3816|936/1271||,C|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|15/22|c.2808T>C|p.Asp936Asp|3404/4708|2808/3684|936/1227||,C|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|13/23|c.2808T>C||||||,C|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|14/23|c.2808T>C||||||,C|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|15/23|c.2808T>C||||||,C|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|16/23|c.2808T>C||||||,C|upstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000471452|processed_transcript||n.-1T>C|||||2475|,C|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000487968|retained_intron||n.*2870T>C|||||1435|,C|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000419722|processed_transcript|2/5|n.33T>C|||||| 22 23634790 . G A . . ANN=A|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|15/23|c.2845G>A|p.Val949Ile|3596/7082|2845/3816|949/1271||,A|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|15/22|c.2845G>A|p.Val949Ile|3441/4708|2845/3684|949/1227||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|13/23|c.2845G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|14/23|c.2845G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|15/23|c.2845G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|16/23|c.2845G>A||||||,A|upstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000471452|processed_transcript||n.-1G>A|||||2438|,A|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000487968|retained_intron||n.*2870G>A|||||1472|,A|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000419722|processed_transcript|2/5|n.70G>A|||||| 22 23634822 . C T . . ANN=T|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|15/23|c.2877C>T|p.Asn959Asn|3628/7082|2877/3816|959/1271||,T|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|15/22|c.2877C>T|p.Asn959Asn|3473/4708|2877/3684|959/1227||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|13/23|c.2877C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|14/23|c.2877C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|15/23|c.2877C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|16/23|c.2877C>T||||||,T|upstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000471452|processed_transcript||n.-1C>T|||||2406|,T|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000487968|retained_intron||n.*2870C>T|||||1504|,T|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000419722|processed_transcript|2/5|n.102C>T|||||| 22 23634851 . C T . . ANN=T|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|13/23|c.2880+26C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|14/23|c.2880+26C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|15/23|c.2880+26C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|16/23|c.2880+26C>T||||||,T|upstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000471452|processed_transcript||n.-1C>T|||||2377|,T|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000487968|retained_intron||n.*2870C>T|||||1533|,T|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|15/22|c.2880+26C>T||||||,T|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|15/21|c.2880+26C>T||||||,T|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000419722|processed_transcript|2/4|n.105+26C>T|||||| 22 23637186 . C T . . ANN=T|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|13/23|c.2881-25C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|14/23|c.2881-25C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|15/23|c.2881-25C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|16/23|c.2881-25C>T||||||,T|upstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000471452|processed_transcript||n.-1C>T|||||42|,T|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000487968|retained_intron||n.*2870C>T|||||3868|,T|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|15/22|c.2881-25C>T||||||,T|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|15/21|c.2880+2361C>T||||||,T|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000419722|processed_transcript|2/4|n.106-25C>T|||||| 22 23637190 . C T . . ANN=T|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|13/23|c.2881-21C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|14/23|c.2881-21C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|15/23|c.2881-21C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|16/23|c.2881-21C>T||||||,T|upstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000471452|processed_transcript||n.-1C>T|||||38|,T|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000487968|retained_intron||n.*2870C>T|||||3872|,T|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|15/22|c.2881-21C>T||||||,T|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|15/21|c.2880+2365C>T||||||,T|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000419722|processed_transcript|2/4|n.106-21C>T|||||| 22 23637200 . T C . . ANN=C|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|13/23|c.2881-11T>C||||||,C|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|14/23|c.2881-11T>C||||||,C|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|15/23|c.2881-11T>C||||||,C|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|16/23|c.2881-11T>C||||||,C|upstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000471452|processed_transcript||n.-1T>C|||||28|,C|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000487968|retained_intron||n.*2870T>C|||||3882|,C|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|15/22|c.2881-11T>C||||||,C|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|15/21|c.2880+2375T>C||||||,C|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000419722|processed_transcript|2/4|n.106-11T>C|||||| 22 23637379 . A C . . ANN=C|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000487968|retained_intron||n.*2870A>C|||||4061|,C|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|16/22|c.3012+37A>C||||||,C|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|15/21|c.2880+2554A>C||||||,C|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000419722|processed_transcript|3/4|n.237+37A>C||||||,C|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000471452|processed_transcript|1/1|n.115+37A>C|||||| 22 23655217 . T TGAA . . 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T G . . 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C T . . ANN=T|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|21/23|c.3502C>T|p.Leu1168Leu|4253/7082|3502/3816|1168/1271||,T|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|20/22|c.3370C>T|p.Leu1124Leu|3966/4708|3370/3684|1124/1227||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:Rho-GAP|ENST00000305877|protein_coding|19/23|c.3502C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:Rho-GAP|ENST00000305877|protein_coding|20/23|c.3502C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:Rho-GAP|ENST00000305877|protein_coding|23/23|c.3502C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:Rho-GAP|ENST00000305877|protein_coding|22/23|c.3502C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:Rho-GAP|ENST00000305877|protein_coding|21/23|c.3502C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:Rho-GAP|ENST00000305877|protein_coding|18/23|c.3502C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:Rho-GAP|ENST00000359540|protein_coding|18/22|c.3370C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:Rho-GAP|ENST00000359540|protein_coding|19/22|c.3370C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:Rho-GAP|ENST00000359540|protein_coding|21/22|c.3370C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:Rho-GAP|ENST00000359540|protein_coding|20/22|c.3370C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:Rho-GAP|ENST00000359540|protein_coding|22/22|c.3370C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:Rho-GAP|ENST00000359540|protein_coding|17/22|c.3370C>T||||||,T|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000419722|processed_transcript||n.*788C>T|||||3579|,T|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000478978|processed_transcript||n.*463C>T|||||3579|,T|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000475025|processed_transcript||n.*563C>T|||||13|,T|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000458056|processed_transcript|1/1|n.635-540C>T||||||,T|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000436990|processed_transcript|4/6|n.1362C>T|||||| 22 23656287 . A G . . ANN=G|sequence_feature|LOW|BCR|ENSG00000186716|domain:Rho-GAP|ENST00000305877|protein_coding|19/23|c.3563+27A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:Rho-GAP|ENST00000305877|protein_coding|20/23|c.3563+27A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:Rho-GAP|ENST00000305877|protein_coding|23/23|c.3563+27A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:Rho-GAP|ENST00000305877|protein_coding|22/23|c.3563+27A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:Rho-GAP|ENST00000305877|protein_coding|21/23|c.3563+27A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:Rho-GAP|ENST00000305877|protein_coding|18/23|c.3563+27A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:Rho-GAP|ENST00000359540|protein_coding|18/22|c.3431+27A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:Rho-GAP|ENST00000359540|protein_coding|19/22|c.3431+27A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:Rho-GAP|ENST00000359540|protein_coding|21/22|c.3431+27A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:Rho-GAP|ENST00000359540|protein_coding|20/22|c.3431+27A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:Rho-GAP|ENST00000359540|protein_coding|22/22|c.3431+27A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:Rho-GAP|ENST00000359540|protein_coding|17/22|c.3431+27A>G||||||,G|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000419722|processed_transcript||n.*788A>G|||||3667|,G|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000478978|processed_transcript||n.*463A>G|||||3667|,G|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000475025|processed_transcript||n.*563A>G|||||101|,G|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|21/22|c.3563+27A>G||||||,G|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|20/21|c.3431+27A>G||||||,G|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000436990|processed_transcript|4/5|n.1423+27A>G||||||,G|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000458056|processed_transcript|1/1|n.635-452A>G|||||| 22 23656308 . G A . . 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C T . . ANN=T|sequence_feature|LOW|BCR|ENSG00000186716|domain:Rho-GAP|ENST00000305877|protein_coding|19/23|c.3564-36C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:Rho-GAP|ENST00000305877|protein_coding|20/23|c.3564-36C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:Rho-GAP|ENST00000305877|protein_coding|23/23|c.3564-36C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:Rho-GAP|ENST00000305877|protein_coding|22/23|c.3564-36C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:Rho-GAP|ENST00000305877|protein_coding|21/23|c.3564-36C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:Rho-GAP|ENST00000305877|protein_coding|18/23|c.3564-36C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:Rho-GAP|ENST00000359540|protein_coding|18/22|c.3432-36C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:Rho-GAP|ENST00000359540|protein_coding|19/22|c.3432-36C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:Rho-GAP|ENST00000359540|protein_coding|21/22|c.3432-36C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:Rho-GAP|ENST00000359540|protein_coding|20/22|c.3432-36C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:Rho-GAP|ENST00000359540|protein_coding|22/22|c.3432-36C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:Rho-GAP|ENST00000359540|protein_coding|17/22|c.3432-36C>T||||||,T|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000419722|processed_transcript||n.*788C>T|||||4083|,T|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000478978|processed_transcript||n.*463C>T|||||4083|,T|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000475025|processed_transcript||n.*563C>T|||||517|,T|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|21/22|c.3564-36C>T||||||,T|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|20/21|c.3432-36C>T||||||,T|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000436990|processed_transcript|4/5|n.1424-36C>T||||||,T|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000458056|processed_transcript|1/1|n.635-36C>T|||||| 22 23656704 . G A . . 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C T . . 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G A . . 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G A . . 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T C . . 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T C . . 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C T . . 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C T . . ANN=T|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|23/23|c.3771C>T|p.Ala1257Ala|4522/7082|3771/3816|1257/1271||,T|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|22/22|c.3639C>T|p.Ala1213Ala|4235/4708|3639/3684|1213/1227||,T|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000475025|processed_transcript||n.*563C>T|||||1478|,T|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000458056|processed_transcript||n.*778C>T|||||782|,T|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000436990|processed_transcript|6/6|n.1631C>T|||||| 22 23657667 . G A . . ANN=A|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|23/23|c.3774G>A|p.Pro1258Pro|4525/7082|3774/3816|1258/1271||,A|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|22/22|c.3642G>A|p.Pro1214Pro|4238/4708|3642/3684|1214/1227||,A|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000475025|processed_transcript||n.*563G>A|||||1481|,A|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000458056|processed_transcript||n.*778G>A|||||785|,A|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000436990|processed_transcript|6/6|n.1634G>A|||||| 22 23657700 . C T . . ANN=T|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|23/23|c.3807C>T|p.Thr1269Thr|4558/7082|3807/3816|1269/1271||,T|synonymous_variant|LOW|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|22/22|c.3675C>T|p.Thr1225Thr|4271/4708|3675/3684|1225/1227||,T|sequence_feature|LOW|BCR|ENSG00000186716|beta_strand|ENST00000305877|protein_coding|23/23|c.3807C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|beta_strand|ENST00000359540|protein_coding|22/22|c.3675C>T||||||,T|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000475025|processed_transcript||n.*563C>T|||||1514|,T|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000458056|processed_transcript||n.*778C>T|||||818|,T|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000436990|processed_transcript|6/6|n.1667C>T|||||| 22 23657722 . A G . . ANN=G|3_prime_UTR_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|23/23|c.*13A>G|||||13|,G|3_prime_UTR_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|22/22|c.*13A>G|||||13|,G|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000475025|processed_transcript||n.*563A>G|||||1536|,G|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000458056|processed_transcript||n.*778A>G|||||840|,G|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000436990|processed_transcript|6/6|n.1689A>G|||||| 22 23657735 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|23/23|c.*26G>A|||||26|,A|3_prime_UTR_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|22/22|c.*26G>A|||||26|,A|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000475025|processed_transcript||n.*563G>A|||||1549|,A|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000458056|processed_transcript||n.*778G>A|||||853|,A|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000436990|processed_transcript|6/6|n.1702G>A|||||| 22 23915429 . T G . . ANN=G|3_prime_UTR_variant|MODIFIER|IGLL1|ENSG00000128322|transcript|ENST00000330377|protein_coding|3/3|c.*24A>C|||||24|,G|3_prime_UTR_variant|MODIFIER|IGLL1|ENSG00000128322|transcript|ENST00000249053|protein_coding|2/2|c.*295A>C|||||295|,G|downstream_gene_variant|MODIFIER|AP000345.2|ENSG00000224277|transcript|ENST00000454863|antisense||n.*569T>G|||||120|,G|downstream_gene_variant|MODIFIER|IGLL1|ENSG00000128322|transcript|ENST00000438703|protein_coding||c.*654A>C|||||127|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|AP000345.2|ENSG00000224277|transcript|ENST00000458318|antisense|3/3|n.391-223T>G|||||| 22 23915440 . C G . . ANN=G|3_prime_UTR_variant|MODIFIER|IGLL1|ENSG00000128322|transcript|ENST00000330377|protein_coding|3/3|c.*13G>C|||||13|,G|3_prime_UTR_variant|MODIFIER|IGLL1|ENSG00000128322|transcript|ENST00000249053|protein_coding|2/2|c.*284G>C|||||284|,G|downstream_gene_variant|MODIFIER|AP000345.2|ENSG00000224277|transcript|ENST00000454863|antisense||n.*569C>G|||||131|,G|downstream_gene_variant|MODIFIER|IGLL1|ENSG00000128322|transcript|ENST00000438703|protein_coding||c.*654G>C|||||116|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|AP000345.2|ENSG00000224277|transcript|ENST00000458318|antisense|3/3|n.391-212C>G|||||| 22 23915529 . C T . . ANN=T|missense_variant|MODERATE|IGLL1|ENSG00000128322|transcript|ENST00000330377|protein_coding|3/3|c.566G>A|p.Arg189His|684/901|566/642|189/213||,T|sequence_feature|LOW|IGLL1|ENSG00000128322|region_of_interest:C_region__By_similarity_to_lambda_light-chain_|ENST00000330377|protein_coding|3/3|c.566G>A||||||,T|sequence_feature|LOW|IGLL1|ENSG00000128322|domain:Ig-like_C1-type|ENST00000330377|protein_coding|3/3|c.566G>A||||||,T|sequence_feature|LOW|IGLL1|ENSG00000128322|disulfide_bond|ENST00000330377|protein_coding|3/3|c.566G>A||||||,T|3_prime_UTR_variant|MODIFIER|IGLL1|ENSG00000128322|transcript|ENST00000249053|protein_coding|2/2|c.*195G>A|||||195|,T|downstream_gene_variant|MODIFIER|AP000345.2|ENSG00000224277|transcript|ENST00000454863|antisense||n.*569C>T|||||220|,T|downstream_gene_variant|MODIFIER|IGLL1|ENSG00000128322|transcript|ENST00000438703|protein_coding||c.*654G>A|||||27|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|AP000345.2|ENSG00000224277|transcript|ENST00000458318|antisense|3/3|n.391-123C>T|||||| 22 23915546 . G A . . ANN=A|synonymous_variant|LOW|IGLL1|ENSG00000128322|transcript|ENST00000330377|protein_coding|3/3|c.549C>T|p.Pro183Pro|667/901|549/642|183/213||,A|sequence_feature|LOW|IGLL1|ENSG00000128322|region_of_interest:C_region__By_similarity_to_lambda_light-chain_|ENST00000330377|protein_coding|3/3|c.549C>T||||||,A|sequence_feature|LOW|IGLL1|ENSG00000128322|domain:Ig-like_C1-type|ENST00000330377|protein_coding|3/3|c.549C>T||||||,A|sequence_feature|LOW|IGLL1|ENSG00000128322|disulfide_bond|ENST00000330377|protein_coding|3/3|c.549C>T||||||,A|sequence_feature|LOW|IGLL1|ENSG00000128322|helix|ENST00000330377|protein_coding|3/3|c.549C>T||||||,A|3_prime_UTR_variant|MODIFIER|IGLL1|ENSG00000128322|transcript|ENST00000249053|protein_coding|2/2|c.*178C>T|||||178|,A|downstream_gene_variant|MODIFIER|AP000345.2|ENSG00000224277|transcript|ENST00000454863|antisense||n.*569G>A|||||237|,A|downstream_gene_variant|MODIFIER|IGLL1|ENSG00000128322|transcript|ENST00000438703|protein_coding||c.*654C>T|||||10|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|AP000345.2|ENSG00000224277|transcript|ENST00000458318|antisense|3/3|n.391-106G>A|||||| 22 23915588 . G A . . ANN=A|synonymous_variant|LOW|IGLL1|ENSG00000128322|transcript|ENST00000330377|protein_coding|3/3|c.507C>T|p.Ser169Ser|625/901|507/642|169/213||,A|synonymous_variant|LOW|IGLL1|ENSG00000128322|transcript|ENST00000438703|protein_coding|3/3|c.510C>T|p.Ser170Ser|622/654|510/542|170/179||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|IGLL1|ENSG00000128322|region_of_interest:C_region__By_similarity_to_lambda_light-chain_|ENST00000330377|protein_coding|3/3|c.507C>T||||||,A|sequence_feature|LOW|IGLL1|ENSG00000128322|domain:Ig-like_C1-type|ENST00000330377|protein_coding|3/3|c.507C>T||||||,A|sequence_feature|LOW|IGLL1|ENSG00000128322|disulfide_bond|ENST00000330377|protein_coding|3/3|c.507C>T||||||,A|3_prime_UTR_variant|MODIFIER|IGLL1|ENSG00000128322|transcript|ENST00000249053|protein_coding|2/2|c.*136C>T|||||136|,A|downstream_gene_variant|MODIFIER|AP000345.2|ENSG00000224277|transcript|ENST00000454863|antisense||n.*569G>A|||||279|,A|intron_variant|MODIFIER|AP000345.2|ENSG00000224277|transcript|ENST00000458318|antisense|3/3|n.391-64G>A|||||| 22 23915652 . G A . . ANN=A|missense_variant|MODERATE|IGLL1|ENSG00000128322|transcript|ENST00000330377|protein_coding|3/3|c.443C>T|p.Thr148Ile|561/901|443/642|148/213||,A|missense_variant|MODERATE|IGLL1|ENSG00000128322|transcript|ENST00000438703|protein_coding|3/3|c.446C>T|p.Thr149Ile|558/654|446/542|149/179||WARNING_TRANSCRIPT_INCOMPLETE,A|splice_region_variant&non_coding_exon_variant|LOW|AP000345.2|ENSG00000224277|transcript|ENST00000458318|antisense|4/4|n.391G>A||||||,A|sequence_feature|LOW|IGLL1|ENSG00000128322|region_of_interest:C_region__By_similarity_to_lambda_light-chain_|ENST00000330377|protein_coding|3/3|c.443C>T||||||,A|sequence_feature|LOW|IGLL1|ENSG00000128322|domain:Ig-like_C1-type|ENST00000330377|protein_coding|3/3|c.443C>T||||||,A|sequence_feature|LOW|IGLL1|ENSG00000128322|disulfide_bond|ENST00000330377|protein_coding|3/3|c.443C>T||||||,A|sequence_feature|LOW|IGLL1|ENSG00000128322|beta_strand|ENST00000330377|protein_coding|3/3|c.443C>T||||||,A|3_prime_UTR_variant|MODIFIER|IGLL1|ENSG00000128322|transcript|ENST00000249053|protein_coding|2/2|c.*72C>T|||||72|,A|downstream_gene_variant|MODIFIER|AP000345.2|ENSG00000224277|transcript|ENST00000454863|antisense||n.*569G>A|||||343| 22 23915672 . A G . . ANN=G|synonymous_variant|LOW|IGLL1|ENSG00000128322|transcript|ENST00000330377|protein_coding|3/3|c.423T>C|p.Tyr141Tyr|541/901|423/642|141/213||,G|synonymous_variant|LOW|IGLL1|ENSG00000128322|transcript|ENST00000438703|protein_coding|3/3|c.426T>C|p.Tyr142Tyr|538/654|426/542|142/179||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|IGLL1|ENSG00000128322|region_of_interest:C_region__By_similarity_to_lambda_light-chain_|ENST00000330377|protein_coding|3/3|c.423T>C||||||,G|sequence_feature|LOW|IGLL1|ENSG00000128322|domain:Ig-like_C1-type|ENST00000330377|protein_coding|3/3|c.423T>C||||||,G|sequence_feature|LOW|IGLL1|ENSG00000128322|disulfide_bond|ENST00000330377|protein_coding|3/3|c.423T>C||||||,G|sequence_feature|LOW|IGLL1|ENSG00000128322|beta_strand|ENST00000330377|protein_coding|3/3|c.423T>C||||||,G|3_prime_UTR_variant|MODIFIER|IGLL1|ENSG00000128322|transcript|ENST00000249053|protein_coding|2/2|c.*52T>C|||||52|,G|downstream_gene_variant|MODIFIER|AP000345.2|ENSG00000224277|transcript|ENST00000454863|antisense||n.*569A>G|||||363|,G|non_coding_exon_variant|MODIFIER|AP000345.2|ENSG00000224277|transcript|ENST00000458318|antisense|4/4|n.411A>G|||||| 22 23917123 . T A . . ANN=A|sequence_feature|LOW|IGLL1|ENSG00000128322|beta_strand|ENST00000330377|protein_coding|2/3|c.322+31A>T||||||,A|sequence_feature|LOW|IGLL1|ENSG00000128322|beta_strand|ENST00000330377|protein_coding|3/3|c.322+31A>T||||||,A|sequence_feature|LOW|IGLL1|ENSG00000128322|region_of_interest:J_region__By_similarity_to_lambda_light-chain_|ENST00000330377|protein_coding|2/3|c.322+31A>T||||||,A|sequence_feature|LOW|IGLL1|ENSG00000128322|region_of_interest:J_region__By_similarity_to_lambda_light-chain_|ENST00000330377|protein_coding|3/3|c.322+31A>T||||||,A|downstream_gene_variant|MODIFIER|AP000345.2|ENSG00000224277|transcript|ENST00000454863|antisense||n.*569T>A|||||1814|,A|downstream_gene_variant|MODIFIER|AP000345.2|ENSG00000224277|transcript|ENST00000458318|antisense||n.*433T>A|||||1429|,A|intron_variant|MODIFIER|IGLL1|ENSG00000128322|transcript|ENST00000330377|protein_coding|2/2|c.322+31A>T||||||,A|intron_variant|MODIFIER|IGLL1|ENSG00000128322|transcript|ENST00000249053|protein_coding|1/1|c.207-1351A>T||||||,A|intron_variant|MODIFIER|IGLL1|ENSG00000128322|transcript|ENST00000438703|protein_coding|2/2|c.325+31A>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 23917167 . C T . . ANN=T|synonymous_variant|LOW|IGLL1|ENSG00000128322|transcript|ENST00000330377|protein_coding|2/3|c.309G>A|p.Gln103Gln|427/901|309/642|103/213||,T|synonymous_variant|LOW|IGLL1|ENSG00000128322|transcript|ENST00000438703|protein_coding|2/3|c.312G>A|p.Gln104Gln|424/654|312/542|104/179||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|IGLL1|ENSG00000128322|beta_strand|ENST00000330377|protein_coding|2/3|c.309G>A||||||,T|sequence_feature|LOW|IGLL1|ENSG00000128322|beta_strand|ENST00000330377|protein_coding|3/3|c.309G>A||||||,T|sequence_feature|LOW|IGLL1|ENSG00000128322|region_of_interest:J_region__By_similarity_to_lambda_light-chain_|ENST00000330377|protein_coding|2/3|c.309G>A||||||,T|sequence_feature|LOW|IGLL1|ENSG00000128322|region_of_interest:J_region__By_similarity_to_lambda_light-chain_|ENST00000330377|protein_coding|3/3|c.309G>A||||||,T|downstream_gene_variant|MODIFIER|AP000345.2|ENSG00000224277|transcript|ENST00000454863|antisense||n.*569C>T|||||1858|,T|downstream_gene_variant|MODIFIER|AP000345.2|ENSG00000224277|transcript|ENST00000458318|antisense||n.*433C>T|||||1473|,T|intron_variant|MODIFIER|IGLL1|ENSG00000128322|transcript|ENST00000249053|protein_coding|1/1|c.207-1395G>A|||||| 22 23917176 . G A . . ANN=A|synonymous_variant|LOW|IGLL1|ENSG00000128322|transcript|ENST00000330377|protein_coding|2/3|c.300C>T|p.Ser100Ser|418/901|300/642|100/213||,A|synonymous_variant|LOW|IGLL1|ENSG00000128322|transcript|ENST00000438703|protein_coding|2/3|c.303C>T|p.Ser101Ser|415/654|303/542|101/179||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|IGLL1|ENSG00000128322|region_of_interest:J_region__By_similarity_to_lambda_light-chain_|ENST00000330377|protein_coding|2/3|c.300C>T||||||,A|sequence_feature|LOW|IGLL1|ENSG00000128322|region_of_interest:J_region__By_similarity_to_lambda_light-chain_|ENST00000330377|protein_coding|3/3|c.300C>T||||||,A|downstream_gene_variant|MODIFIER|AP000345.2|ENSG00000224277|transcript|ENST00000454863|antisense||n.*569G>A|||||1867|,A|downstream_gene_variant|MODIFIER|AP000345.2|ENSG00000224277|transcript|ENST00000458318|antisense||n.*433G>A|||||1482|,A|intron_variant|MODIFIER|IGLL1|ENSG00000128322|transcript|ENST00000249053|protein_coding|1/1|c.207-1404C>T|||||| 22 23917217 . AC A . . ANN=|frameshift_variant|HIGH|IGLL1|ENSG00000128322|transcript|ENST00000330377|protein_coding|2/3|c.258delG|p.Gly86fs|376/901|258/642|86/213||,|frameshift_variant|HIGH|IGLL1|ENSG00000128322|transcript|ENST00000438703|protein_coding|2/3|c.261delG|p.Gly87fs|373/654|261/542|87/179||WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|AP000345.2|ENSG00000224277|transcript|ENST00000454863|antisense||n.*569delC|||||1909|,|downstream_gene_variant|MODIFIER|AP000345.2|ENSG00000224277|transcript|ENST00000458318|antisense||n.*433delC|||||1524|,|intron_variant|MODIFIER|IGLL1|ENSG00000128322|transcript|ENST00000249053|protein_coding|1/1|c.207-1446delG||||||;LOF=(IGLL1|ENSG00000128322|3|0.67) 22 23917253 . C T . . ANN=T|missense_variant|MODERATE|IGLL1|ENSG00000128322|transcript|ENST00000330377|protein_coding|2/3|c.223G>A|p.Gly75Ser|341/901|223/642|75/213||,T|missense_variant|MODERATE|IGLL1|ENSG00000128322|transcript|ENST00000438703|protein_coding|2/3|c.226G>A|p.Gly76Ser|338/654|226/542|76/179||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|IGLL1|ENSG00000128322|helix|ENST00000330377|protein_coding|2/3|c.223G>A||||||,T|downstream_gene_variant|MODIFIER|AP000345.2|ENSG00000224277|transcript|ENST00000454863|antisense||n.*569C>T|||||1944|,T|downstream_gene_variant|MODIFIER|AP000345.2|ENSG00000224277|transcript|ENST00000458318|antisense||n.*433C>T|||||1559|,T|intron_variant|MODIFIER|IGLL1|ENSG00000128322|transcript|ENST00000249053|protein_coding|1/1|c.207-1481G>A|||||| 22 23917281 . G T . . ANN=T|sequence_feature|LOW|IGLL1|ENSG00000128322|helix|ENST00000330377|protein_coding|2/3|c.207-12C>A||||||,T|sequence_feature|LOW|IGLL1|ENSG00000128322|helix|ENST00000330377|protein_coding|1/3|c.207-12C>A||||||,T|downstream_gene_variant|MODIFIER|AP000345.2|ENSG00000224277|transcript|ENST00000454863|antisense||n.*569G>T|||||1972|,T|downstream_gene_variant|MODIFIER|AP000345.2|ENSG00000224277|transcript|ENST00000458318|antisense||n.*433G>T|||||1587|,T|intron_variant|MODIFIER|IGLL1|ENSG00000128322|transcript|ENST00000330377|protein_coding|1/2|c.207-12C>A||||||,T|intron_variant|MODIFIER|IGLL1|ENSG00000128322|transcript|ENST00000249053|protein_coding|1/1|c.207-1509C>A||||||,T|intron_variant|MODIFIER|IGLL1|ENSG00000128322|transcript|ENST00000438703|protein_coding|1/2|c.207-9C>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 23922138 . A AC . . ANN=C|sequence_feature|LOW|IGLL1|ENSG00000128322|helix|ENST00000330377|protein_coding|2/3|c.206+33dupG||||||,C|sequence_feature|LOW|IGLL1|ENSG00000128322|helix|ENST00000330377|protein_coding|1/3|c.206+33dupG||||||,C|downstream_gene_variant|MODIFIER|KB-208E9.1|ENSG00000272733|transcript|ENST00000608615|lincRNA||n.*1081dupG|||||928|,C|intron_variant|MODIFIER|IGLL1|ENSG00000128322|transcript|ENST00000330377|protein_coding|1/2|c.206+33dupG||||||,C|intron_variant|MODIFIER|IGLL1|ENSG00000128322|transcript|ENST00000249053|protein_coding|1/1|c.206+33dupG||||||,C|intron_variant|MODIFIER|IGLL1|ENSG00000128322|transcript|ENST00000438703|protein_coding|1/2|c.206+33dupG||||||WARNING_TRANSCRIPT_INCOMPLETE 22 23922276 . T C . . ANN=C|synonymous_variant|LOW|IGLL1|ENSG00000128322|transcript|ENST00000330377|protein_coding|1/3|c.102A>G|p.Val34Val|220/901|102/642|34/213||,C|synonymous_variant|LOW|IGLL1|ENSG00000128322|transcript|ENST00000249053|protein_coding|1/2|c.102A>G|p.Val34Val|151/716|102/255|34/84||,C|synonymous_variant|LOW|IGLL1|ENSG00000128322|transcript|ENST00000438703|protein_coding|1/3|c.102A>G|p.Val34Val|214/654|102/542|34/179||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|IGLL1|ENSG00000128322|signal_peptide|ENST00000330377|protein_coding|1/3|c.102A>G||||||,C|sequence_feature|LOW|IGLL1|ENSG00000128322|signal_peptide|ENST00000249053|protein_coding|1/2|c.102A>G||||||,C|downstream_gene_variant|MODIFIER|KB-208E9.1|ENSG00000272733|transcript|ENST00000608615|lincRNA||n.*1081A>G|||||791| 22 23922281 . C T . . ANN=T|missense_variant|MODERATE|IGLL1|ENSG00000128322|transcript|ENST00000330377|protein_coding|1/3|c.97G>A|p.Val33Met|215/901|97/642|33/213||,T|missense_variant|MODERATE|IGLL1|ENSG00000128322|transcript|ENST00000249053|protein_coding|1/2|c.97G>A|p.Val33Met|146/716|97/255|33/84||,T|missense_variant|MODERATE|IGLL1|ENSG00000128322|transcript|ENST00000438703|protein_coding|1/3|c.97G>A|p.Val33Met|209/654|97/542|33/179||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|IGLL1|ENSG00000128322|signal_peptide|ENST00000330377|protein_coding|1/3|c.97G>A||||||,T|sequence_feature|LOW|IGLL1|ENSG00000128322|signal_peptide|ENST00000249053|protein_coding|1/2|c.97G>A||||||,T|downstream_gene_variant|MODIFIER|KB-208E9.1|ENSG00000272733|transcript|ENST00000608615|lincRNA||n.*1081G>A|||||786| 22 23922311 . G A . . ANN=A|missense_variant|MODERATE|IGLL1|ENSG00000128322|transcript|ENST00000330377|protein_coding|1/3|c.67C>T|p.Arg23Cys|185/901|67/642|23/213||,A|missense_variant|MODERATE|IGLL1|ENSG00000128322|transcript|ENST00000249053|protein_coding|1/2|c.67C>T|p.Arg23Cys|116/716|67/255|23/84||,A|missense_variant|MODERATE|IGLL1|ENSG00000128322|transcript|ENST00000438703|protein_coding|1/3|c.67C>T|p.Arg23Cys|179/654|67/542|23/179||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|IGLL1|ENSG00000128322|signal_peptide|ENST00000330377|protein_coding|1/3|c.67C>T||||||,A|sequence_feature|LOW|IGLL1|ENSG00000128322|signal_peptide|ENST00000249053|protein_coding|1/2|c.67C>T||||||,A|downstream_gene_variant|MODIFIER|KB-208E9.1|ENSG00000272733|transcript|ENST00000608615|lincRNA||n.*1081C>T|||||756| 22 23955464 . G A . . ANN=A|intron_variant|MODIFIER|C22orf43|ENSG00000189269|transcript|ENST00000317749|protein_coding|11/11|c.685+12C>T|||||| 22 23955509 . G C . . ANN=C|missense_variant|MODERATE|C22orf43|ENSG00000189269|transcript|ENST00000317749|protein_coding|11/12|c.652C>G|p.Leu218Val|950/1300|652/690|218/229|| 22 23955561 . C T . . ANN=T|intron_variant|MODIFIER|C22orf43|ENSG00000189269|transcript|ENST00000317749|protein_coding|10/11|c.644-44G>A|||||| 22 23955797 . C T . . ANN=T|intron_variant|MODIFIER|C22orf43|ENSG00000189269|transcript|ENST00000317749|protein_coding|10/11|c.643+29G>A|||||| 22 23955895 . C T . . ANN=T|intron_variant|MODIFIER|C22orf43|ENSG00000189269|transcript|ENST00000317749|protein_coding|9/11|c.622-48G>A|||||| 22 23956322 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|C22orf43|ENSG00000189269|transcript|ENST00000317749|protein_coding|9/12|c.621C>T|p.His207His|919/1300|621/690|207/229|| 22 23956340 . T A . . ANN=A|missense_variant|MODERATE|C22orf43|ENSG00000189269|transcript|ENST00000317749|protein_coding|9/12|c.603A>T|p.Glu201Asp|901/1300|603/690|201/229||,A|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|7/12|c.603A>T||||||,A|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|9/12|c.603A>T||||||,A|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|5/12|c.603A>T||||||,A|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|8/12|c.603A>T||||||,A|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|4/12|c.603A>T||||||,A|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|6/12|c.603A>T|||||| 22 23956437 . G C . . ANN=C|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|7/12|c.542-36C>G||||||,C|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|9/12|c.542-36C>G||||||,C|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|5/12|c.542-36C>G||||||,C|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|8/12|c.542-36C>G||||||,C|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|4/12|c.542-36C>G||||||,C|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|6/12|c.542-36C>G||||||,C|intron_variant|MODIFIER|C22orf43|ENSG00000189269|transcript|ENST00000317749|protein_coding|8/11|c.542-36C>G|||||| 22 23956448 . C G . . ANN=G|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|7/12|c.542-47G>C||||||,G|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|9/12|c.542-47G>C||||||,G|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|5/12|c.542-47G>C||||||,G|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|8/12|c.542-47G>C||||||,G|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|4/12|c.542-47G>C||||||,G|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|6/12|c.542-47G>C||||||,G|intron_variant|MODIFIER|C22orf43|ENSG00000189269|transcript|ENST00000317749|protein_coding|8/11|c.542-47G>C|||||| 22 23959054 . G A . . ANN=A|missense_variant|MODERATE|C22orf43|ENSG00000189269|transcript|ENST00000317749|protein_coding|8/12|c.527C>T|p.Pro176Leu|825/1300|527/690|176/229||,A|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|7/12|c.527C>T||||||,A|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|9/12|c.527C>T||||||,A|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|5/12|c.527C>T||||||,A|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|8/12|c.527C>T||||||,A|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|4/12|c.527C>T||||||,A|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|6/12|c.527C>T|||||| 22 23959878 . GT G . . ANN=|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|7/12|c.437-35delA||||||,|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|9/12|c.437-35delA||||||,|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|5/12|c.437-35delA||||||,|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|8/12|c.437-35delA||||||,|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|4/12|c.437-35delA||||||,|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|6/12|c.437-35delA||||||,|intron_variant|MODIFIER|C22orf43|ENSG00000189269|transcript|ENST00000317749|protein_coding|6/11|c.437-35delA|||||| 22 23961519 . C T . . ANN=T|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|7/12|c.436+32G>A||||||,T|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|9/12|c.436+32G>A||||||,T|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|5/12|c.436+32G>A||||||,T|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|8/12|c.436+32G>A||||||,T|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|4/12|c.436+32G>A||||||,T|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|6/12|c.436+32G>A||||||,T|intron_variant|MODIFIER|C22orf43|ENSG00000189269|transcript|ENST00000317749|protein_coding|6/11|c.436+32G>A|||||| 22 23961521 . C A . . ANN=A|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|7/12|c.436+30G>T||||||,A|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|9/12|c.436+30G>T||||||,A|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|5/12|c.436+30G>T||||||,A|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|8/12|c.436+30G>T||||||,A|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|4/12|c.436+30G>T||||||,A|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|6/12|c.436+30G>T||||||,A|intron_variant|MODIFIER|C22orf43|ENSG00000189269|transcript|ENST00000317749|protein_coding|6/11|c.436+30G>T|||||| 22 23961522 . AATACT A . . ANN=|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|7/12|c.436+24_436+28delAGTAT||||||,|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|9/12|c.436+24_436+28delAGTAT||||||,|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|5/12|c.436+24_436+28delAGTAT||||||,|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|8/12|c.436+24_436+28delAGTAT||||||,|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|4/12|c.436+24_436+28delAGTAT||||||,|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|6/12|c.436+24_436+28delAGTAT||||||,|intron_variant|MODIFIER|C22orf43|ENSG00000189269|transcript|ENST00000317749|protein_coding|6/11|c.436+24_436+28delAGTAT|||||| 22 23961597 . A G . . ANN=G|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|7/12|c.407-17T>C||||||,G|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|9/12|c.407-17T>C||||||,G|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|5/12|c.407-17T>C||||||,G|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|8/12|c.407-17T>C||||||,G|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|4/12|c.407-17T>C||||||,G|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|6/12|c.407-17T>C||||||,G|intron_variant|MODIFIER|C22orf43|ENSG00000189269|transcript|ENST00000317749|protein_coding|5/11|c.407-17T>C|||||| 22 23962744 . T TTTC . . ANN=TTC|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|7/12|c.406+36_406+37insGAA||||||,TTC|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|9/12|c.406+36_406+37insGAA||||||,TTC|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|5/12|c.406+36_406+37insGAA||||||,TTC|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|8/12|c.406+36_406+37insGAA||||||,TTC|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|4/12|c.406+36_406+37insGAA||||||,TTC|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|6/12|c.406+36_406+37insGAA||||||,TTC|intron_variant|MODIFIER|C22orf43|ENSG00000189269|transcript|ENST00000317749|protein_coding|5/11|c.406+36_406+37insGAA|||||| 22 23962789 . C T . . ANN=T|missense_variant|MODERATE|C22orf43|ENSG00000189269|transcript|ENST00000317749|protein_coding|5/12|c.398G>A|p.Arg133His|696/1300|398/690|133/229||,T|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|7/12|c.398G>A||||||,T|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|9/12|c.398G>A||||||,T|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|5/12|c.398G>A||||||,T|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|8/12|c.398G>A||||||,T|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|4/12|c.398G>A||||||,T|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|6/12|c.398G>A|||||| 22 23962809 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|C22orf43|ENSG00000189269|transcript|ENST00000317749|protein_coding|4/11|c.385-7G>A||||||,T|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|7/12|c.385-7G>A||||||,T|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|9/12|c.385-7G>A||||||,T|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|5/12|c.385-7G>A||||||,T|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|8/12|c.385-7G>A||||||,T|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|4/12|c.385-7G>A||||||,T|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|6/12|c.385-7G>A|||||| 22 23964272 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|C22orf43|ENSG00000189269|transcript|ENST00000317749|protein_coding|4/11|c.384+6A>G||||||,C|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|7/12|c.384+6A>G||||||,C|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|9/12|c.384+6A>G||||||,C|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|5/12|c.384+6A>G||||||,C|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|8/12|c.384+6A>G||||||,C|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|4/12|c.384+6A>G||||||,C|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|6/12|c.384+6A>G|||||| 22 23964335 . T C . . ANN=C|synonymous_variant|LOW|C22orf43|ENSG00000189269|transcript|ENST00000317749|protein_coding|4/12|c.327A>G|p.Val109Val|625/1300|327/690|109/229|| 22 23967056 . T C . . ANN=C|intron_variant|MODIFIER|C22orf43|ENSG00000189269|transcript|ENST00000317749|protein_coding|3/11|c.298+14A>G|||||| 22 23967068 . A G . . ANN=G|splice_donor_variant&intron_variant|HIGH|C22orf43|ENSG00000189269|transcript|ENST00000317749|protein_coding|3/11|c.298+2T>C||||||;LOF=(C22orf43|ENSG00000189269|1|1.00) 22 23967074 . G A . . ANN=A|synonymous_variant|LOW|C22orf43|ENSG00000189269|transcript|ENST00000317749|protein_coding|3/12|c.294C>T|p.Val98Val|592/1300|294/690|98/229|| 22 23967105 . AAAG A . . ANN=|intron_variant|MODIFIER|C22orf43|ENSG00000189269|transcript|ENST00000317749|protein_coding|2/11|c.277-17_277-15delCTT|||||| 22 23968141 . T C . . ANN=C|downstream_gene_variant|MODIFIER|KB-1572G7.3|ENSG00000211683|transcript|ENST00000390329|processed_transcript||n.*1087A>G|||||4664|,C|intron_variant|MODIFIER|C22orf43|ENSG00000189269|transcript|ENST00000317749|protein_coding|2/11|c.276+27A>G|||||| 22 23973974 . AG A . . ANN=|intron_variant|MODIFIER|C22orf43|ENSG00000189269|transcript|ENST00000317749|protein_coding|1/11|c.208+28delC||||||,|intron_variant|MODIFIER|KB-1572G7.3|ENSG00000211683|transcript|ENST00000390329|processed_transcript|5/5|n.742+28delC|||||| 22 23973994 . C CT . . ANN=T|splice_region_variant&intron_variant|LOW|C22orf43|ENSG00000189269|transcript|ENST00000317749|protein_coding|1/11|c.208+8dupA||||||,T|splice_region_variant&intron_variant|LOW|KB-1572G7.3|ENSG00000211683|transcript|ENST00000390329|processed_transcript|5/5|n.742+8dupA|||||| 22 23974182 . T C . . ANN=C|missense_variant|MODERATE|C22orf43|ENSG00000189269|transcript|ENST00000317749|protein_coding|1/12|c.29A>G|p.Asn10Ser|327/1300|29/690|10/229||,C|intron_variant|MODIFIER|KB-1572G7.3|ENSG00000211683|transcript|ENST00000390329|processed_transcript|4/5|n.585-22A>G|||||| 22 23974200 . A G . . ANN=G|missense_variant|MODERATE|C22orf43|ENSG00000189269|transcript|ENST00000317749|protein_coding|1/12|c.11T>C|p.Ile4Thr|309/1300|11/690|4/229||,G|intron_variant|MODIFIER|KB-1572G7.3|ENSG00000211683|transcript|ENST00000390329|processed_transcript|4/5|n.585-40T>C|||||| 22 23974244 . G A . . ANN=A|5_prime_UTR_premature_start_codon_gain_variant|LOW|C22orf43|ENSG00000189269|transcript|ENST00000317749|protein_coding|1/12|c.-34C>T||||||,A|5_prime_UTR_variant|MODIFIER|C22orf43|ENSG00000189269|transcript|ENST00000317749|protein_coding|1/12|c.-34C>T|||||34|,A|intron_variant|MODIFIER|KB-1572G7.3|ENSG00000211683|transcript|ENST00000390329|processed_transcript|4/5|n.585-84C>T|||||| 22 24034244 . T C . . ANN=C|synonymous_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|1/12|c.27T>C|p.Pro9Pro|752/2333|27/1608|9/535||WARNING_TRANSCRIPT_NO_STOP_CODON,C|synonymous_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|1/11|c.27T>C|p.Pro9Pro|1197/2885|27/1422|9/473||,C|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1A>G|||||1764|,C|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1A>G|||||1653|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1A>G|||||1566|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1A>G|||||1760|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000451919|processed_transcript||n.-1A>G|||||4077|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000437862|processed_transcript||n.-1A>G|||||4238|,C|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2T>C|||||4427|WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2289-1701A>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2263-1701A>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.928-8190A>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+3116A>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2495-1701A>G||||||,C|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+22154A>G||||||,C|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|2/11|c.-229-278T>C||||||,C|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript|1/5|n.1095A>G||||||,C|non_coding_exon_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript|1/3|n.1129A>G||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|3/14|n.27T>C||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|1/10|n.752T>C||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|1/11|n.752T>C|||||| 22 24034288 . A G . . ANN=G|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|1/12|c.71A>G|p.Gln24Arg|796/2333|71/1608|24/535||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|1/11|c.71A>G|p.Gln24Arg|1241/2885|71/1422|24/473||,G|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1T>C|||||1808|,G|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1T>C|||||1697|,G|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1T>C|||||1610|,G|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1T>C|||||1804|,G|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000451919|processed_transcript||n.-1T>C|||||4121|,G|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000437862|processed_transcript||n.-1T>C|||||4282|,G|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2A>G|||||4383|WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2289-1745T>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2263-1745T>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.928-8234T>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+3072T>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2495-1745T>C||||||,G|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+22110T>C||||||,G|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|2/11|c.-229-234A>G||||||,G|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript|1/5|n.1051T>C||||||,G|non_coding_exon_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript|1/3|n.1085T>C||||||,G|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|3/14|n.71A>G||||||,G|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|1/10|n.796A>G||||||,G|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|1/11|n.796A>G|||||| 22 24034292 . C T . . ANN=T|synonymous_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|1/12|c.75C>T|p.Gly25Gly|800/2333|75/1608|25/535||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|1/11|c.75C>T|p.Gly25Gly|1245/2885|75/1422|25/473||,T|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1G>A|||||1812|,T|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1G>A|||||1701|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1G>A|||||1614|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1G>A|||||1808|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000451919|processed_transcript||n.-1G>A|||||4125|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000437862|processed_transcript||n.-1G>A|||||4286|,T|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2C>T|||||4379|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2289-1749G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2263-1749G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.928-8238G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+3068G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2495-1749G>A||||||,T|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+22106G>A||||||,T|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|2/11|c.-229-230C>T||||||,T|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript|1/5|n.1047G>A||||||,T|non_coding_exon_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript|1/3|n.1081G>A||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|3/14|n.75C>T||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|1/10|n.800C>T||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|1/11|n.800C>T|||||| 22 24034299 . G A . . ANN=A|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|1/12|c.82G>A|p.Glu28Lys|807/2333|82/1608|28/535||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|1/11|c.82G>A|p.Glu28Lys|1252/2885|82/1422|28/473||,A|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1C>T|||||1819|,A|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1C>T|||||1708|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1C>T|||||1621|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1C>T|||||1815|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000451919|processed_transcript||n.-1C>T|||||4132|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000437862|processed_transcript||n.-1C>T|||||4293|,A|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2G>A|||||4372|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2289-1756C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2263-1756C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.928-8245C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+3061C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2495-1756C>T||||||,A|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+22099C>T||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|2/11|c.-229-223G>A||||||,A|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript|1/5|n.1040C>T||||||,A|non_coding_exon_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript|1/3|n.1074C>T||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|3/14|n.82G>A||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|1/10|n.807G>A||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|1/11|n.807G>A|||||| 22 24034304 . G C . . ANN=C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|1/12|c.87G>C|p.Glu29Asp|812/2333|87/1608|29/535||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|1/11|c.87G>C|p.Glu29Asp|1257/2885|87/1422|29/473||,C|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1C>G|||||1824|,C|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1C>G|||||1713|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1C>G|||||1626|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1C>G|||||1820|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000451919|processed_transcript||n.-1C>G|||||4137|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000437862|processed_transcript||n.-1C>G|||||4298|,C|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2G>C|||||4367|WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2289-1761C>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2263-1761C>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.928-8250C>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+3056C>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2495-1761C>G||||||,C|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+22094C>G||||||,C|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|2/11|c.-229-218G>C||||||,C|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript|1/5|n.1035C>G||||||,C|non_coding_exon_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript|1/3|n.1069C>G||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|3/14|n.87G>C||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|1/10|n.812G>C||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|1/11|n.812G>C|||||| 22 24034322 . A G . . ANN=G|synonymous_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|1/12|c.105A>G|p.Pro35Pro|830/2333|105/1608|35/535||WARNING_TRANSCRIPT_NO_STOP_CODON,G|synonymous_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|1/11|c.105A>G|p.Pro35Pro|1275/2885|105/1422|35/473||,G|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1T>C|||||1842|,G|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1T>C|||||1731|,G|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1T>C|||||1644|,G|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1T>C|||||1838|,G|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000451919|processed_transcript||n.-1T>C|||||4155|,G|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000437862|processed_transcript||n.-1T>C|||||4316|,G|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2A>G|||||4349|WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2289-1779T>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2263-1779T>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.928-8268T>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+3038T>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2495-1779T>C||||||,G|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+22076T>C||||||,G|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|2/11|c.-229-200A>G||||||,G|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript|1/5|n.1017T>C||||||,G|non_coding_exon_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript|1/3|n.1051T>C||||||,G|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|3/14|n.105A>G||||||,G|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|1/10|n.830A>G||||||,G|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|1/11|n.830A>G|||||| 22 24034326 . C T . . ANN=T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|1/12|c.109C>T|p.Arg37Cys|834/2333|109/1608|37/535||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|1/11|c.109C>T|p.Arg37Cys|1279/2885|109/1422|37/473||,T|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1G>A|||||1846|,T|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1G>A|||||1735|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1G>A|||||1648|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1G>A|||||1842|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000451919|processed_transcript||n.-1G>A|||||4159|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000437862|processed_transcript||n.-1G>A|||||4320|,T|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2C>T|||||4345|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2289-1783G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2263-1783G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.928-8272G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+3034G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2495-1783G>A||||||,T|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+22072G>A||||||,T|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|2/11|c.-229-196C>T||||||,T|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript|1/5|n.1013G>A||||||,T|non_coding_exon_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript|1/3|n.1047G>A||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|3/14|n.109C>T||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|1/10|n.834C>T||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|1/11|n.834C>T|||||| 22 24034330 . C T . . ANN=T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|1/12|c.113C>T|p.Thr38Met|838/2333|113/1608|38/535||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|1/11|c.113C>T|p.Thr38Met|1283/2885|113/1422|38/473||,T|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1G>A|||||1850|,T|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1G>A|||||1739|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1G>A|||||1652|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1G>A|||||1846|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000451919|processed_transcript||n.-1G>A|||||4163|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000437862|processed_transcript||n.-1G>A|||||4324|,T|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2C>T|||||4341|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2289-1787G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2263-1787G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.928-8276G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+3030G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2495-1787G>A||||||,T|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+22068G>A||||||,T|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|2/11|c.-229-192C>T||||||,T|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript|1/5|n.1009G>A||||||,T|non_coding_exon_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript|1/3|n.1043G>A||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|3/14|n.113C>T||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|1/10|n.838C>T||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|1/11|n.838C>T|||||| 22 24034331 . G A . . ANN=A|synonymous_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|1/12|c.114G>A|p.Thr38Thr|839/2333|114/1608|38/535||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|1/11|c.114G>A|p.Thr38Thr|1284/2885|114/1422|38/473||,A|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1C>T|||||1851|,A|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1C>T|||||1740|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1C>T|||||1653|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1C>T|||||1847|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000451919|processed_transcript||n.-1C>T|||||4164|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000437862|processed_transcript||n.-1C>T|||||4325|,A|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2G>A|||||4340|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2289-1788C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2263-1788C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.928-8277C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+3029C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2495-1788C>T||||||,A|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+22067C>T||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|2/11|c.-229-191G>A||||||,A|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript|1/5|n.1008C>T||||||,A|non_coding_exon_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript|1/3|n.1042C>T||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|3/14|n.114G>A||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|1/10|n.839G>A||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|1/11|n.839G>A|||||| 22 24034353 . T C . . ANN=C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|1/12|c.136T>C|p.Tyr46His|861/2333|136/1608|46/535||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|1/11|c.136T>C|p.Tyr46His|1306/2885|136/1422|46/473||,C|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1A>G|||||1873|,C|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1A>G|||||1762|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1A>G|||||1675|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1A>G|||||1869|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000451919|processed_transcript||n.-1A>G|||||4186|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000437862|processed_transcript||n.-1A>G|||||4347|,C|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2T>C|||||4318|WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2289-1810A>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2263-1810A>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.928-8299A>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+3007A>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2495-1810A>G||||||,C|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+22045A>G||||||,C|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|2/11|c.-229-169T>C||||||,C|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript|1/5|n.986A>G||||||,C|non_coding_exon_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript|1/3|n.1020A>G||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|3/14|n.136T>C||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|1/10|n.861T>C||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|1/11|n.861T>C|||||| 22 24034545 . A G . . ANN=G|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|2/12|c.203A>G|p.Asn68Ser|928/2333|203/1608|68/535||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|2/11|c.203A>G|p.Asn68Ser|1373/2885|203/1422|68/473||,G|5_prime_UTR_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|3/12|c.-206A>G|||||346|,G|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1T>C|||||2065|,G|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1T>C|||||1954|,G|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1T>C|||||1867|,G|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1T>C|||||2061|,G|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000451919|processed_transcript||n.-1T>C|||||4378|,G|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000437862|processed_transcript||n.-1T>C|||||4539|,G|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2A>G|||||4126|WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2288+1761T>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2262+1761T>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+8368T>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+2815T>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2494+1761T>C||||||,G|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+21853T>C||||||,G|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript|1/5|n.794T>C||||||,G|non_coding_exon_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript|1/3|n.828T>C||||||,G|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|4/14|n.203A>G||||||,G|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|1/10|n.1053A>G||||||,G|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|1/11|n.1053A>G|||||| 22 24034573 . C T . . ANN=T|synonymous_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|2/12|c.231C>T|p.Tyr77Tyr|956/2333|231/1608|77/535||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|2/11|c.231C>T|p.Tyr77Tyr|1401/2885|231/1422|77/473||,T|5_prime_UTR_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|3/12|c.-178C>T|||||318|,T|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1G>A|||||2093|,T|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1G>A|||||1982|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1G>A|||||1895|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1G>A|||||2089|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000451919|processed_transcript||n.-1G>A|||||4406|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000437862|processed_transcript||n.-1G>A|||||4567|,T|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2C>T|||||4098|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2288+1733G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2262+1733G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+8340G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+2787G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2494+1733G>A||||||,T|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+21825G>A||||||,T|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript|1/5|n.766G>A||||||,T|non_coding_exon_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript|1/3|n.800G>A||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|4/14|n.231C>T||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|1/10|n.1081C>T||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|1/11|n.1081C>T|||||| 22 24034574 . T C . . ANN=C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|2/12|c.232T>C|p.Tyr78His|957/2333|232/1608|78/535||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|2/11|c.232T>C|p.Tyr78His|1402/2885|232/1422|78/473||,C|5_prime_UTR_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|3/12|c.-177T>C|||||317|,C|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1A>G|||||2094|,C|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1A>G|||||1983|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1A>G|||||1896|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1A>G|||||2090|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000451919|processed_transcript||n.-1A>G|||||4407|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000437862|processed_transcript||n.-1A>G|||||4568|,C|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2T>C|||||4097|WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2288+1732A>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2262+1732A>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+8339A>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+2786A>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2494+1732A>G||||||,C|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+21824A>G||||||,C|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript|1/5|n.765A>G||||||,C|non_coding_exon_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript|1/3|n.799A>G||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|4/14|n.232T>C||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|1/10|n.1082T>C||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|1/11|n.1082T>C|||||| 22 24034602 . G A . . ANN=A|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|2/12|c.260G>A|p.Arg87Gln|985/2333|260/1608|87/535||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|2/11|c.260G>A|p.Arg87Gln|1430/2885|260/1422|87/473||,A|5_prime_UTR_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|3/12|c.-149G>A|||||289|,A|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1C>T|||||2122|,A|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1C>T|||||2011|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1C>T|||||1924|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1C>T|||||2118|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000451919|processed_transcript||n.-1C>T|||||4435|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000437862|processed_transcript||n.-1C>T|||||4596|,A|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2G>A|||||4069|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2288+1704C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2262+1704C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+8311C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+2758C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2494+1704C>T||||||,A|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+21796C>T||||||,A|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript|1/5|n.737C>T||||||,A|non_coding_exon_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript|1/3|n.771C>T||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|4/14|n.260G>A||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|1/10|n.1110G>A||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|1/11|n.1110G>A|||||| 22 24034628 . T A . . ANN=A|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|2/12|c.286T>A|p.Ser96Thr|1011/2333|286/1608|96/535||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|2/11|c.286T>A|p.Ser96Thr|1456/2885|286/1422|96/473||,A|5_prime_UTR_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|3/12|c.-123T>A|||||263|,A|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1A>T|||||2148|,A|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1A>T|||||2037|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1A>T|||||1950|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1A>T|||||2144|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000451919|processed_transcript||n.-1A>T|||||4461|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000437862|processed_transcript||n.-1A>T|||||4622|,A|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2T>A|||||4043|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2288+1678A>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2262+1678A>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+8285A>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+2732A>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2494+1678A>T||||||,A|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+21770A>T||||||,A|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript|1/5|n.711A>T||||||,A|non_coding_exon_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript|1/3|n.745A>T||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|4/14|n.286T>A||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|1/10|n.1136T>A||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|1/11|n.1136T>A|||||| 22 24034671 . T C . . ANN=C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|2/12|c.329T>C|p.Leu110Pro|1054/2333|329/1608|110/535||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|2/11|c.329T>C|p.Leu110Pro|1499/2885|329/1422|110/473||,C|5_prime_UTR_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|3/12|c.-80T>C|||||220|,C|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1A>G|||||2191|,C|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1A>G|||||2080|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1A>G|||||1993|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1A>G|||||2187|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000451919|processed_transcript||n.-1A>G|||||4504|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000437862|processed_transcript||n.-1A>G|||||4665|,C|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2T>C|||||4000|WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2288+1635A>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2262+1635A>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+8242A>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+2689A>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2494+1635A>G||||||,C|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+21727A>G||||||,C|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript|1/5|n.668A>G||||||,C|non_coding_exon_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript|1/3|n.702A>G||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|4/14|n.329T>C||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|1/10|n.1179T>C||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|1/11|n.1179T>C|||||| 22 24034706 . A G . . ANN=G|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|2/12|c.364A>G|p.Lys122Glu|1089/2333|364/1608|122/535||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|2/11|c.364A>G|p.Lys122Glu|1534/2885|364/1422|122/473||,G|sequence_feature|LOW|RGL4|ENSG00000159496|compositionally_biased_region:Pro-rich|ENST00000290691|protein_coding|2/11|c.364A>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|compositionally_biased_region:Pro-rich|ENST00000290691|protein_coding|3/11|c.364A>G||||||,G|5_prime_UTR_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|3/12|c.-45A>G|||||185|,G|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1T>C|||||2226|,G|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1T>C|||||2115|,G|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1T>C|||||2028|,G|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1T>C|||||2222|,G|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000451919|processed_transcript||n.-1T>C|||||4539|,G|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000437862|processed_transcript||n.-1T>C|||||4700|,G|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2A>G|||||3965|WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2288+1600T>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2262+1600T>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+8207T>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+2654T>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2494+1600T>C||||||,G|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+21692T>C||||||,G|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript|1/5|n.633T>C||||||,G|non_coding_exon_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript|1/3|n.667T>C||||||,G|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|4/14|n.364A>G||||||,G|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|1/10|n.1214A>G||||||,G|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|1/11|n.1214A>G|||||| 22 24034747 . G A . . ANN=A|sequence_feature|LOW|RGL4|ENSG00000159496|compositionally_biased_region:Pro-rich|ENST00000290691|protein_coding|2/11|c.373+32G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|compositionally_biased_region:Pro-rich|ENST00000290691|protein_coding|3/11|c.373+32G>A||||||,A|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1C>T|||||2267|,A|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1C>T|||||2156|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1C>T|||||2069|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1C>T|||||2263|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000451919|processed_transcript||n.-1C>T|||||4580|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000437862|processed_transcript||n.-1C>T|||||4741|,A|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2G>A|||||3924|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2288+1559C>T||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|2/11|c.373+32G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2262+1559C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+8166C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+2613C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2494+1559C>T||||||,A|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+21651C>T||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|4/13|n.373+32G>A||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|3/11|c.-36+32G>A||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|2/10|c.373+32G>A||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|1/9|n.1223+32G>A||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|1/10|n.1223+32G>A||||||,A|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript|1/5|n.592C>T||||||,A|non_coding_exon_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript|1/3|n.626C>T|||||| 22 24034868 . G A . . ANN=A|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|3/12|c.386G>A|p.Arg129His|1111/2333|386/1608|129/535||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|3/11|c.386G>A|p.Arg129His|1556/2885|386/1422|129/473||,A|sequence_feature|LOW|RGL4|ENSG00000159496|compositionally_biased_region:Pro-rich|ENST00000290691|protein_coding|2/11|c.386G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|compositionally_biased_region:Pro-rich|ENST00000290691|protein_coding|3/11|c.386G>A||||||,A|5_prime_UTR_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|4/12|c.-23G>A|||||23|,A|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1C>T|||||2388|,A|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1C>T|||||2277|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1C>T|||||2190|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1C>T|||||2384|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000451919|processed_transcript||n.-1C>T|||||4701|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000437862|processed_transcript||n.-1C>T|||||4862|,A|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2G>A|||||3803|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2288+1438C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2262+1438C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+8045C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+2492C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2494+1438C>T||||||,A|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+21530C>T||||||,A|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript|1/5|n.471C>T||||||,A|non_coding_exon_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript|1/3|n.505C>T||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|5/14|n.386G>A||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|2/10|n.1236G>A||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|2/11|n.1236G>A|||||| 22 24034881 . C A . . ANN=A|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|3/12|c.399C>A|p.His133Gln|1124/2333|399/1608|133/535||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|3/11|c.399C>A|p.His133Gln|1569/2885|399/1422|133/473||,A|sequence_feature|LOW|RGL4|ENSG00000159496|compositionally_biased_region:Pro-rich|ENST00000290691|protein_coding|2/11|c.399C>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|compositionally_biased_region:Pro-rich|ENST00000290691|protein_coding|3/11|c.399C>A||||||,A|5_prime_UTR_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|4/12|c.-10C>A|||||10|,A|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1G>T|||||2401|,A|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1G>T|||||2290|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1G>T|||||2203|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1G>T|||||2397|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000451919|processed_transcript||n.-1G>T|||||4714|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000437862|processed_transcript||n.-1G>T|||||4875|,A|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2C>A|||||3790|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2288+1425G>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2262+1425G>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+8032G>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+2479G>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2494+1425G>T||||||,A|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+21517G>T||||||,A|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript|1/5|n.458G>T||||||,A|non_coding_exon_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript|1/3|n.492G>T||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|5/14|n.399C>A||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|2/10|n.1249C>A||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|2/11|n.1249C>A|||||| 22 24034896 . G A . . ANN=A|synonymous_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|3/12|c.414G>A|p.Pro138Pro|1139/2333|414/1608|138/535||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|4/12|c.6G>A|p.Pro2Pro|1119/2420|6/1014|2/337||,A|synonymous_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|3/11|c.414G>A|p.Pro138Pro|1584/2885|414/1422|138/473||,A|sequence_feature|LOW|RGL4|ENSG00000159496|compositionally_biased_region:Pro-rich|ENST00000290691|protein_coding|2/11|c.414G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|compositionally_biased_region:Pro-rich|ENST00000290691|protein_coding|3/11|c.414G>A||||||,A|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1C>T|||||2416|,A|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1C>T|||||2305|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1C>T|||||2218|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1C>T|||||2412|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000451919|processed_transcript||n.-1C>T|||||4729|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000437862|processed_transcript||n.-1C>T|||||4890|,A|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2G>A|||||3775|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2288+1410C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2262+1410C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+8017C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+2464C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2494+1410C>T||||||,A|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+21502C>T||||||,A|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript|1/5|n.443C>T||||||,A|non_coding_exon_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript|1/3|n.477C>T||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|5/14|n.414G>A||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|2/10|n.1264G>A||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|2/11|n.1264G>A|||||| 22 24034912 . C T . . ANN=T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|3/12|c.430C>T|p.Pro144Ser|1155/2333|430/1608|144/535||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|4/12|c.22C>T|p.Pro8Ser|1135/2420|22/1014|8/337||,T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|3/11|c.430C>T|p.Pro144Ser|1600/2885|430/1422|144/473||,T|sequence_feature|LOW|RGL4|ENSG00000159496|compositionally_biased_region:Pro-rich|ENST00000290691|protein_coding|2/11|c.430C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|compositionally_biased_region:Pro-rich|ENST00000290691|protein_coding|3/11|c.430C>T||||||,T|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1G>A|||||2432|,T|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1G>A|||||2321|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1G>A|||||2234|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1G>A|||||2428|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000451919|processed_transcript||n.-1G>A|||||4745|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000437862|processed_transcript||n.-1G>A|||||4906|,T|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2C>T|||||3759|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2288+1394G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2262+1394G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+8001G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+2448G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2494+1394G>A||||||,T|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+21486G>A||||||,T|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript|1/5|n.427G>A||||||,T|non_coding_exon_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript|1/3|n.461G>A||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|5/14|n.430C>T||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|2/10|n.1280C>T||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|2/11|n.1280C>T|||||| 22 24034939 . G C . . ANN=C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|3/12|c.457G>C|p.Ala153Pro|1182/2333|457/1608|153/535||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|4/12|c.49G>C|p.Ala17Pro|1162/2420|49/1014|17/337||,C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|3/11|c.457G>C|p.Ala153Pro|1627/2885|457/1422|153/473||,C|sequence_feature|LOW|RGL4|ENSG00000159496|compositionally_biased_region:Pro-rich|ENST00000290691|protein_coding|2/11|c.457G>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|compositionally_biased_region:Pro-rich|ENST00000290691|protein_coding|3/11|c.457G>C||||||,C|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1C>G|||||2459|,C|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1C>G|||||2348|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1C>G|||||2261|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1C>G|||||2455|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000451919|processed_transcript||n.-1C>G|||||4772|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000437862|processed_transcript||n.-1C>G|||||4933|,C|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2G>C|||||3732|WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2288+1367C>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2262+1367C>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+7974C>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+2421C>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2494+1367C>G||||||,C|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+21459C>G||||||,C|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript|1/5|n.400C>G||||||,C|non_coding_exon_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript|1/3|n.434C>G||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|5/14|n.457G>C||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|2/10|n.1307G>C||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|2/11|n.1307G>C|||||| 22 24034948 . C A . . ANN=A|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|3/12|c.466C>A|p.Pro156Thr|1191/2333|466/1608|156/535||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|4/12|c.58C>A|p.Pro20Thr|1171/2420|58/1014|20/337||,A|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|3/11|c.466C>A|p.Pro156Thr|1636/2885|466/1422|156/473||,A|sequence_feature|LOW|RGL4|ENSG00000159496|compositionally_biased_region:Pro-rich|ENST00000290691|protein_coding|2/11|c.466C>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|compositionally_biased_region:Pro-rich|ENST00000290691|protein_coding|3/11|c.466C>A||||||,A|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1G>T|||||2468|,A|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1G>T|||||2357|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1G>T|||||2270|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1G>T|||||2464|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000451919|processed_transcript||n.-1G>T|||||4781|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000437862|processed_transcript||n.-1G>T|||||4942|,A|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2C>A|||||3723|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2288+1358G>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2262+1358G>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+7965G>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+2412G>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2494+1358G>T||||||,A|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+21450G>T||||||,A|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript|1/5|n.391G>T||||||,A|non_coding_exon_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript|1/3|n.425G>T||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|5/14|n.466C>A||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|2/10|n.1316C>A||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|2/11|n.1316C>A|||||| 22 24034949 . C A . . ANN=A|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|3/12|c.467C>A|p.Pro156Gln|1192/2333|467/1608|156/535||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|4/12|c.59C>A|p.Pro20Gln|1172/2420|59/1014|20/337||,A|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|3/11|c.467C>A|p.Pro156Gln|1637/2885|467/1422|156/473||,A|sequence_feature|LOW|RGL4|ENSG00000159496|compositionally_biased_region:Pro-rich|ENST00000290691|protein_coding|2/11|c.467C>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|compositionally_biased_region:Pro-rich|ENST00000290691|protein_coding|3/11|c.467C>A||||||,A|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1G>T|||||2469|,A|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1G>T|||||2358|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1G>T|||||2271|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1G>T|||||2465|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000451919|processed_transcript||n.-1G>T|||||4782|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000437862|processed_transcript||n.-1G>T|||||4943|,A|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2C>A|||||3722|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2288+1357G>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2262+1357G>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+7964G>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+2411G>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2494+1357G>T||||||,A|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+21449G>T||||||,A|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript|1/5|n.390G>T||||||,A|non_coding_exon_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript|1/3|n.424G>T||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|5/14|n.467C>A||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|2/10|n.1317C>A||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|2/11|n.1317C>A|||||| 22 24034989 . T C . . ANN=C|synonymous_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|3/12|c.507T>C|p.His169His|1232/2333|507/1608|169/535||WARNING_TRANSCRIPT_NO_STOP_CODON,C|synonymous_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|4/12|c.99T>C|p.His33His|1212/2420|99/1014|33/337||,C|synonymous_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|3/11|c.507T>C|p.His169His|1677/2885|507/1422|169/473||,C|sequence_feature|LOW|RGL4|ENSG00000159496|compositionally_biased_region:Pro-rich|ENST00000290691|protein_coding|2/11|c.507T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|compositionally_biased_region:Pro-rich|ENST00000290691|protein_coding|3/11|c.507T>C||||||,C|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1A>G|||||2509|,C|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1A>G|||||2398|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1A>G|||||2311|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1A>G|||||2505|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000451919|processed_transcript||n.-1A>G|||||4822|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000437862|processed_transcript||n.-1A>G|||||4983|,C|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2T>C|||||3682|WARNING_TRANSCRIPT_NO_START_CODON,C|TF_binding_site_variant|MODIFIER|||Nrsf|MA0138.2|||||||||,C|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2288+1317A>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2262+1317A>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+7924A>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+2371A>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2494+1317A>G||||||,C|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+21409A>G||||||,C|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript|1/5|n.350A>G||||||,C|non_coding_exon_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript|1/3|n.384A>G||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|5/14|n.507T>C||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|2/10|n.1357T>C||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|2/11|n.1357T>C|||||| 22 24035001 . G GCCAGCACCAGCA . . ANN=CACCAGCACCAG|disruptive_inframe_insertion|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|3/12|c.524_535dupCACCAGCACCAG|p.Ala175_Pro178dup|1261/2333|536/1608|179/535||WARNING_TRANSCRIPT_NO_STOP_CODON&INFO_REALIGN_3_PRIME,CACCAGCACCAG|disruptive_inframe_insertion|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|4/12|c.116_127dupCACCAGCACCAG|p.Ala39_Pro42dup|1241/2420|128/1014|43/337||INFO_REALIGN_3_PRIME,CACCAGCACCAG|disruptive_inframe_insertion|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|3/11|c.524_535dupCACCAGCACCAG|p.Ala175_Pro178dup|1706/2885|536/1422|179/473||INFO_REALIGN_3_PRIME,CCAGCACCAGCA|TF_binding_site_variant|LOW|||Nrsf|MA0138.2|||n.null_nullinsCCAGCACCAGCA||||||,CCAGCACCAGCA|TF_binding_site_variant|LOW|||Nrsf|MA0138.1|||n.null_nulldupTGCTGGTGCTGG||||||,CCAGCACCAGCA|sequence_feature|LOW|RGL4|ENSG00000159496|compositionally_biased_region:Pro-rich|ENST00000290691|protein_coding|2/11|c.519_520insCCAGCACCAGCA||||||,CCAGCACCAGCA|sequence_feature|LOW|RGL4|ENSG00000159496|compositionally_biased_region:Pro-rich|ENST00000290691|protein_coding|3/11|c.519_520insCCAGCACCAGCA||||||,CCAGCACCAGCA|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1_-1dupTGCTGGTGCTGG|||||2522|,CCAGCACCAGCA|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1_-1dupTGCTGGTGCTGG|||||2411|,CCAGCACCAGCA|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1_-1dupTGCTGGTGCTGG|||||2324|,CCAGCACCAGCA|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1_-1dupTGCTGGTGCTGG|||||2518|,CCAGCACCAGCA|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000451919|processed_transcript||n.-1_-1dupTGCTGGTGCTGG|||||4835|,CCAGCACCAGCA|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000437862|processed_transcript||n.null_-1dupTGCTGGTGCTGG|||||4996|,CCAGCACCAGCA|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2_-2insCCAGCACCAGCA|||||3669|WARNING_TRANSCRIPT_NO_START_CODON,CCAGCACCAGCA|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2288+1293_2288+1304dupTGCTGGTGCTGG||||||,CCAGCACCAGCA|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2262+1293_2262+1304dupTGCTGGTGCTGG||||||,CCAGCACCAGCA|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+7900_927+7911dupTGCTGGTGCTGG||||||,CCAGCACCAGCA|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+2347_1320+2358dupTGCTGGTGCTGG||||||,CCAGCACCAGCA|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2494+1293_2494+1304dupTGCTGGTGCTGG||||||,CCAGCACCAGCA|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+21385_711+21396dupTGCTGGTGCTGG||||||,CCAGCACCAGCA|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript|1/5|n.326_337dupTGCTGGTGCTGG||||||,CCAGCACCAGCA|non_coding_exon_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript|1/3|n.360_371dupTGCTGGTGCTGG||||||,CACCAGCACCAG|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|5/14|n.524_535dupCACCAGCACCAG||||||INFO_REALIGN_3_PRIME,CACCAGCACCAG|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|2/10|n.1374_1385dupCACCAGCACCAG||||||INFO_REALIGN_3_PRIME,CACCAGCACCAG|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|2/11|n.1374_1385dupCACCAGCACCAG||||||INFO_REALIGN_3_PRIME 22 24035085 . T C . . ANN=C|synonymous_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|3/12|c.603T>C|p.Arg201Arg|1328/2333|603/1608|201/535||WARNING_TRANSCRIPT_NO_STOP_CODON,C|synonymous_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|4/12|c.195T>C|p.Arg65Arg|1308/2420|195/1014|65/337||,C|synonymous_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|3/11|c.603T>C|p.Arg201Arg|1773/2885|603/1422|201/473||,C|sequence_feature|LOW|RGL4|ENSG00000159496|compositionally_biased_region:Pro-rich|ENST00000290691|protein_coding|2/11|c.603T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|compositionally_biased_region:Pro-rich|ENST00000290691|protein_coding|3/11|c.603T>C||||||,C|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1A>G|||||2605|,C|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1A>G|||||2494|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1A>G|||||2407|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1A>G|||||2601|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000451919|processed_transcript||n.-1A>G|||||4918|,C|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2T>C|||||3586|WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2288+1221A>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2262+1221A>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+7828A>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+2275A>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2494+1221A>G||||||,C|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+21313A>G||||||,C|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript|1/5|n.254A>G||||||,C|non_coding_exon_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript|1/3|n.288A>G||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|5/14|n.603T>C||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|2/10|n.1453T>C||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|2/11|n.1453T>C|||||| 22 24035129 . C T . . ANN=T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|3/12|c.647C>T|p.Thr216Met|1372/2333|647/1608|216/535||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|4/12|c.239C>T|p.Thr80Met|1352/2420|239/1014|80/337||,T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|3/11|c.647C>T|p.Thr216Met|1817/2885|647/1422|216/473||,T|sequence_feature|LOW|RGL4|ENSG00000159496|compositionally_biased_region:Pro-rich|ENST00000290691|protein_coding|2/11|c.647C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|compositionally_biased_region:Pro-rich|ENST00000290691|protein_coding|3/11|c.647C>T||||||,T|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1G>A|||||2649|,T|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1G>A|||||2538|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1G>A|||||2451|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1G>A|||||2645|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000451919|processed_transcript||n.-1G>A|||||4962|,T|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2C>T|||||3542|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2288+1177G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2262+1177G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+7784G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+2231G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2494+1177G>A||||||,T|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+21269G>A||||||,T|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript|1/5|n.210G>A||||||,T|non_coding_exon_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript|1/3|n.244G>A||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|5/14|n.647C>T||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|2/10|n.1497C>T||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|2/11|n.1497C>T|||||| 22 24035130 . G C . . ANN=C|synonymous_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|3/12|c.648G>C|p.Thr216Thr|1373/2333|648/1608|216/535||WARNING_TRANSCRIPT_NO_STOP_CODON,C|synonymous_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|4/12|c.240G>C|p.Thr80Thr|1353/2420|240/1014|80/337||,C|synonymous_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|3/11|c.648G>C|p.Thr216Thr|1818/2885|648/1422|216/473||,C|sequence_feature|LOW|RGL4|ENSG00000159496|compositionally_biased_region:Pro-rich|ENST00000290691|protein_coding|2/11|c.648G>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|compositionally_biased_region:Pro-rich|ENST00000290691|protein_coding|3/11|c.648G>C||||||,C|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1C>G|||||2650|,C|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1C>G|||||2539|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1C>G|||||2452|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1C>G|||||2646|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000451919|processed_transcript||n.-1C>G|||||4963|,C|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2G>C|||||3541|WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2288+1176C>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2262+1176C>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+7783C>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+2230C>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2494+1176C>G||||||,C|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+21268C>G||||||,C|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript|1/5|n.209C>G||||||,C|non_coding_exon_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript|1/3|n.243C>G||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|5/14|n.648G>C||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|2/10|n.1498G>C||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|2/11|n.1498G>C|||||| 22 24035177 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|3/12|c.695C>T|p.Ala232Val|1420/2333|695/1608|232/535||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant&splice_region_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|4/12|c.287C>T|p.Ala96Val|1400/2420|287/1014|96/337||,T|missense_variant&splice_region_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|3/11|c.695C>T|p.Ala232Val|1865/2885|695/1422|232/473||,T|splice_region_variant&non_coding_exon_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|5/14|n.695C>T||||||,T|splice_region_variant&non_coding_exon_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|2/10|n.1545C>T||||||,T|splice_region_variant&non_coding_exon_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|2/11|n.1545C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.695C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.695C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.695C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.695C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.695C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.695C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.695C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.695C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.695C>T||||||,T|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1G>A|||||2697|,T|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1G>A|||||2586|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1G>A|||||2499|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1G>A|||||2693|,T|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2C>T|||||3494|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2288+1129G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2262+1129G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+7736G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+2183G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2494+1129G>A||||||,T|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+21221G>A||||||,T|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript|1/5|n.162G>A||||||,T|non_coding_exon_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript|1/3|n.196G>A|||||| 22 24035215 . C A . . ANN=A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.696+37C>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.696+37C>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.696+37C>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.696+37C>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.696+37C>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.696+37C>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.696+37C>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.696+37C>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.696+37C>A||||||,A|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1G>T|||||2735|,A|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1G>T|||||2624|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1G>T|||||2537|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1G>T|||||2731|,A|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2C>A|||||3456|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2288+1091G>T||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|3/11|c.696+37C>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2262+1091G>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+7698G>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+2145G>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2494+1091G>T||||||,A|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+21183G>T||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|5/13|n.696+37C>A||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|4/11|c.288+37C>A||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|3/10|c.696+37C>A||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|2/9|n.1546+37C>A||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|2/10|n.1546+37C>A||||||,A|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript|1/5|n.124G>T||||||,A|non_coding_exon_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript|1/3|n.158G>T|||||| 22 24035907 . A G . . ANN=G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.697-39A>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.697-39A>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.697-39A>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.697-39A>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.697-39A>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.697-39A>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.697-39A>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.697-39A>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.697-39A>G||||||,G|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript||n.-1T>C|||||569|,G|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript||n.-1T>C|||||535|,G|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1T>C|||||3427|,G|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1T>C|||||3316|,G|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1T>C|||||3229|,G|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1T>C|||||3423|,G|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2A>G|||||2764|WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript||n.-1A>G|||||4350|,G|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2288+399T>C||||||,G|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|3/11|c.697-39A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2262+399T>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+7006T>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+1453T>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2494+399T>C||||||,G|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+20491T>C||||||,G|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|5/13|n.697-39A>G||||||,G|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|4/11|c.289-39A>G||||||,G|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|3/10|c.697-39A>G||||||,G|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|2/9|n.1547-39A>G||||||,G|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|2/10|n.1547-39A>G|||||| 22 24035970 . C T . . ANN=T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|4/12|c.721C>T|p.His241Tyr|1446/2333|721/1608|241/535||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|5/12|c.313C>T|p.His105Tyr|1426/2420|313/1014|105/337||,T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|4/11|c.721C>T|p.His241Tyr|1891/2885|721/1422|241/473||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.721C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.721C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.721C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.721C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.721C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.721C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.721C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.721C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.721C>T||||||,T|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript||n.-1G>A|||||632|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript||n.-1G>A|||||598|,T|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1G>A|||||3490|,T|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1G>A|||||3379|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1G>A|||||3292|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1G>A|||||3486|,T|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2C>T|||||2701|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript||n.-1C>T|||||4287|,T|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2288+336G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2262+336G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+6943G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+1390G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2494+336G>A||||||,T|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+20428G>A||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|6/14|n.721C>T||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|3/10|n.1571C>T||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|3/11|n.1571C>T|||||| 22 24036000 . G C . . ANN=C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|4/12|c.751G>C|p.Gly251Arg|1476/2333|751/1608|251/535||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|5/12|c.343G>C|p.Gly115Arg|1456/2420|343/1014|115/337||,C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|4/11|c.751G>C|p.Gly251Arg|1921/2885|751/1422|251/473||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.751G>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.751G>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.751G>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.751G>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.751G>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.751G>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.751G>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.751G>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.751G>C||||||,C|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript||n.-1C>G|||||662|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript||n.-1C>G|||||628|,C|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1C>G|||||3520|,C|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1C>G|||||3409|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1C>G|||||3322|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1C>G|||||3516|,C|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2G>C|||||2671|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript||n.-1G>C|||||4257|,C|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2288+306C>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2262+306C>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+6913C>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+1360C>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2494+306C>G||||||,C|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+20398C>G||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|6/14|n.751G>C||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|3/10|n.1601G>C||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|3/11|n.1601G>C|||||| 22 24036013 . G A . . ANN=A|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|4/12|c.764G>A|p.Gly255Glu|1489/2333|764/1608|255/535||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|5/12|c.356G>A|p.Gly119Glu|1469/2420|356/1014|119/337||,A|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|4/11|c.764G>A|p.Gly255Glu|1934/2885|764/1422|255/473||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.764G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.764G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.764G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.764G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.764G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.764G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.764G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.764G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.764G>A||||||,A|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript||n.-1C>T|||||675|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript||n.-1C>T|||||641|,A|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1C>T|||||3533|,A|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1C>T|||||3422|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1C>T|||||3335|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1C>T|||||3529|,A|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2G>A|||||2658|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript||n.-1G>A|||||4244|,A|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2288+293C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2262+293C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+6900C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+1347C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2494+293C>T||||||,A|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+20385C>T||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|6/14|n.764G>A||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|3/10|n.1614G>A||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|3/11|n.1614G>A|||||| 22 24036040 . G A . . ANN=A|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|4/12|c.791G>A|p.Arg264His|1516/2333|791/1608|264/535||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|5/12|c.383G>A|p.Arg128His|1496/2420|383/1014|128/337||,A|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|4/11|c.791G>A|p.Arg264His|1961/2885|791/1422|264/473||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.791G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.791G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.791G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.791G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.791G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.791G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.791G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.791G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.791G>A||||||,A|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript||n.-1C>T|||||702|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript||n.-1C>T|||||668|,A|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1C>T|||||3560|,A|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1C>T|||||3449|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1C>T|||||3362|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1C>T|||||3556|,A|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2G>A|||||2631|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript||n.-1G>A|||||4217|,A|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2288+266C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2262+266C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+6873C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+1320C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2494+266C>T||||||,A|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+20358C>T||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|6/14|n.791G>A||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|3/10|n.1641G>A||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|3/11|n.1641G>A|||||| 22 24036111 . A C . . ANN=C|synonymous_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|4/12|c.862A>C|p.Arg288Arg|1587/2333|862/1608|288/535||WARNING_TRANSCRIPT_NO_STOP_CODON,C|synonymous_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|5/12|c.454A>C|p.Arg152Arg|1567/2420|454/1014|152/337||,C|synonymous_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|4/11|c.862A>C|p.Arg288Arg|2032/2885|862/1422|288/473||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.862A>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.862A>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.862A>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.862A>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.862A>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.862A>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.862A>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.862A>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.862A>C||||||,C|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript||n.-1T>G|||||773|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript||n.-1T>G|||||739|,C|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1T>G|||||3631|,C|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1T>G|||||3520|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1T>G|||||3433|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1T>G|||||3627|,C|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2A>C|||||2560|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript||n.-1A>C|||||4146|,C|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2288+195T>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2262+195T>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+6802T>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+1249T>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2494+195T>G||||||,C|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+20287T>G||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|6/14|n.862A>C||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|3/10|n.1712A>C||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|3/11|n.1712A>C|||||| 22 24036138 . G A . . ANN=A|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|4/12|c.889G>A|p.Glu297Lys|1614/2333|889/1608|297/535||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|5/12|c.481G>A|p.Glu161Lys|1594/2420|481/1014|161/337||,A|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|4/11|c.889G>A|p.Glu297Lys|2059/2885|889/1422|297/473||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.889G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.889G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.889G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.889G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.889G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.889G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.889G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.889G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.889G>A||||||,A|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript||n.-1C>T|||||800|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript||n.-1C>T|||||766|,A|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1C>T|||||3658|,A|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1C>T|||||3547|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1C>T|||||3460|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1C>T|||||3654|,A|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2G>A|||||2533|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript||n.-1G>A|||||4119|,A|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2288+168C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2262+168C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+6775C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+1222C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2494+168C>T||||||,A|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+20260C>T||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|6/14|n.889G>A||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|3/10|n.1739G>A||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|3/11|n.1739G>A|||||| 22 24036155 . G A . . ANN=A|synonymous_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|4/12|c.906G>A|p.Val302Val|1631/2333|906/1608|302/535||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|5/12|c.498G>A|p.Val166Val|1611/2420|498/1014|166/337||,A|synonymous_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|4/11|c.906G>A|p.Val302Val|2076/2885|906/1422|302/473||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.906G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.906G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.906G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.906G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.906G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.906G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.906G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.906G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.906G>A||||||,A|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript||n.-1C>T|||||817|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript||n.-1C>T|||||783|,A|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1C>T|||||3675|,A|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1C>T|||||3564|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1C>T|||||3477|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1C>T|||||3671|,A|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2G>A|||||2516|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript||n.-1G>A|||||4102|,A|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2288+151C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2262+151C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+6758C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+1205C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2494+151C>T||||||,A|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+20243C>T||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|6/14|n.906G>A||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|3/10|n.1756G>A||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|3/11|n.1756G>A|||||| 22 24036186 . T C . . ANN=C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.912+25T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.912+25T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.912+25T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.912+25T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.912+25T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.912+25T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.912+25T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.912+25T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.912+25T>C||||||,C|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript||n.-1A>G|||||848|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript||n.-1A>G|||||814|,C|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1A>G|||||3706|,C|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1A>G|||||3595|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1A>G|||||3508|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1A>G|||||3702|,C|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2T>C|||||2485|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript||n.-1T>C|||||4071|,C|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2288+120A>G||||||,C|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|4/11|c.912+25T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2262+120A>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+6727A>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+1174A>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2494+120A>G||||||,C|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+20212A>G||||||,C|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|6/13|n.912+25T>C||||||,C|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|5/11|c.504+25T>C||||||,C|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|4/10|c.912+25T>C||||||,C|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|3/9|n.1762+25T>C||||||,C|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|3/10|n.1762+25T>C|||||| 22 24036204 . G A . . ANN=A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.912+43G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.912+43G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.912+43G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.912+43G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.912+43G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.912+43G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.912+43G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.912+43G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.912+43G>A||||||,A|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript||n.-1C>T|||||866|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript||n.-1C>T|||||832|,A|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1C>T|||||3724|,A|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1C>T|||||3613|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1C>T|||||3526|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1C>T|||||3720|,A|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2G>A|||||2467|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript||n.-1G>A|||||4053|,A|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2288+102C>T||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|4/11|c.912+43G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2262+102C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+6709C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+1156C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2494+102C>T||||||,A|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+20194C>T||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|6/13|n.912+43G>A||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|5/11|c.504+43G>A||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|4/10|c.912+43G>A||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|3/9|n.1762+43G>A||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|3/10|n.1762+43G>A|||||| 22 24036563 . G A . . ANN=A|synonymous_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|5/12|c.942G>A|p.Ser314Ser|1667/2333|942/1608|314/535||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|6/12|c.534G>A|p.Ser178Ser|1647/2420|534/1014|178/337||,A|synonymous_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|5/11|c.942G>A|p.Ser314Ser|2112/2885|942/1422|314/473||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.942G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.942G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.942G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.942G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.942G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.942G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.942G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.942G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.942G>A||||||,A|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript||n.-1C>T|||||1225|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript||n.-1C>T|||||1191|,A|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1C>T|||||4083|,A|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1C>T|||||3972|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1C>T|||||3885|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1C>T|||||4079|,A|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2G>A|||||2108|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript||n.-1G>A|||||3694|,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+6350C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+797C>T||||||,A|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+19835C>T||||||,A|non_coding_exon_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/12|n.2031C>T||||||,A|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/12|n.2005C>T||||||,A|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/12|n.2237C>T||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|7/14|n.942G>A||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|4/10|n.1792G>A||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|4/11|n.1792G>A|||||| 22 24036575 . C T . . ANN=T|synonymous_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|5/12|c.954C>T|p.Ile318Ile|1679/2333|954/1608|318/535||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|6/12|c.546C>T|p.Ile182Ile|1659/2420|546/1014|182/337||,T|synonymous_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|5/11|c.954C>T|p.Ile318Ile|2124/2885|954/1422|318/473||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.954C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.954C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.954C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.954C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.954C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.954C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.954C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.954C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.954C>T||||||,T|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript||n.-1G>A|||||1237|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript||n.-1G>A|||||1203|,T|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1G>A|||||4095|,T|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1G>A|||||3984|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1G>A|||||3897|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1G>A|||||4091|,T|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2C>T|||||2096|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript||n.-1C>T|||||3682|,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+6338G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+785G>A||||||,T|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+19823G>A||||||,T|non_coding_exon_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/12|n.2019G>A||||||,T|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/12|n.1993G>A||||||,T|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/12|n.2225G>A||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|7/14|n.954C>T||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|4/10|n.1804C>T||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|4/11|n.1804C>T|||||| 22 24036657 . T C . . ANN=C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.1016+20T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.1016+20T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.1016+20T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.1016+20T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.1016+20T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.1016+20T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.1016+20T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.1016+20T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.1016+20T>C||||||,C|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript||n.-1A>G|||||1319|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript||n.-1A>G|||||1285|,C|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1A>G|||||4177|,C|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1A>G|||||4066|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1A>G|||||3979|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1A>G|||||4173|,C|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2T>C|||||2014|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript||n.-1T>C|||||3600|,C|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|5/11|c.1016+20T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+6256A>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+703A>G||||||,C|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+19741A>G||||||,C|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|7/13|n.1016+20T>C||||||,C|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|6/11|c.608+20T>C||||||,C|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|5/10|c.1016+20T>C||||||,C|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|4/9|n.1866+20T>C||||||,C|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|4/10|n.1866+20T>C||||||,C|non_coding_exon_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/12|n.1937A>G||||||,C|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/12|n.1911A>G||||||,C|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/12|n.2143A>G|||||| 22 24037094 . CCT C . . ANN=|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.1017-42_1017-41delCT||||||,|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.1017-42_1017-41delCT||||||,|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.1017-42_1017-41delCT||||||,|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.1017-42_1017-41delCT||||||,|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.1017-42_1017-41delCT||||||,|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.1017-42_1017-41delCT||||||,|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.1017-42_1017-41delCT||||||,|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.1017-42_1017-41delCT||||||,|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.1017-42_1017-41delCT||||||,|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript||n.-1_-1delAG|||||1757|,|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript||n.-1_-1delAG|||||1723|,|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1_-1delAG|||||4615|,|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1_-1delAG|||||4504|,|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1_-1delAG|||||4417|,|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1_-1delAG|||||4611|,|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2_-2delCT|||||1576|WARNING_TRANSCRIPT_NO_START_CODON,|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript||n.-1_-1delCT|||||3162|,|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|5/11|c.1017-42_1017-41delCT||||||WARNING_TRANSCRIPT_NO_STOP_CODON,|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+5817_927+5818delAG||||||,|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+264_1320+265delAG||||||,|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+19302_711+19303delAG||||||,|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|7/13|n.1017-42_1017-41delCT||||||,|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|6/11|c.609-42_609-41delCT||||||,|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|5/10|c.1017-42_1017-41delCT||||||,|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|4/9|n.1867-42_1867-41delCT||||||,|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|4/10|n.1867-42_1867-41delCT||||||,|non_coding_exon_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/12|n.1498_1499delAG||||||,|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/12|n.1472_1473delAG||||||,|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/12|n.1704_1705delAG|||||| 22 24037096 . T C . . ANN=C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.1017-41T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.1017-41T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.1017-41T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.1017-41T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.1017-41T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.1017-41T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.1017-41T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.1017-41T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.1017-41T>C||||||,C|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript||n.-1A>G|||||1758|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript||n.-1A>G|||||1724|,C|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1A>G|||||4616|,C|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1A>G|||||4505|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1A>G|||||4418|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1A>G|||||4612|,C|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2T>C|||||1575|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript||n.-1T>C|||||3161|,C|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|5/11|c.1017-41T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+5817A>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+264A>G||||||,C|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+19302A>G||||||,C|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|7/13|n.1017-41T>C||||||,C|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|6/11|c.609-41T>C||||||,C|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|5/10|c.1017-41T>C||||||,C|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|4/9|n.1867-41T>C||||||,C|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|4/10|n.1867-41T>C||||||,C|non_coding_exon_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/12|n.1498A>G||||||,C|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/12|n.1472A>G||||||,C|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/12|n.1704A>G|||||| 22 24037130 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|5/11|c.1017-7C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|splice_region_variant&intron_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|7/13|n.1017-7C>T||||||,T|splice_region_variant&intron_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|6/11|c.609-7C>T||||||,T|splice_region_variant&intron_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|5/10|c.1017-7C>T||||||,T|splice_region_variant&intron_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|4/9|n.1867-7C>T||||||,T|splice_region_variant&intron_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|4/10|n.1867-7C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.1017-7C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.1017-7C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.1017-7C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.1017-7C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.1017-7C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.1017-7C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.1017-7C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.1017-7C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.1017-7C>T||||||,T|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript||n.-1G>A|||||1792|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript||n.-1G>A|||||1758|,T|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1G>A|||||4650|,T|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1G>A|||||4539|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1G>A|||||4452|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1G>A|||||4646|,T|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2C>T|||||1541|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript||n.-1C>T|||||3127|,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+5783G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+230G>A||||||,T|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+19268G>A||||||,T|non_coding_exon_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/12|n.1464G>A||||||,T|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/12|n.1438G>A||||||,T|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/12|n.1670G>A|||||| 22 24037150 . G C . . ANN=C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|6/12|c.1030G>C|p.Glu344Gln|1755/2333|1030/1608|344/535||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|7/12|c.622G>C|p.Glu208Gln|1735/2420|622/1014|208/337||,C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|6/11|c.1030G>C|p.Glu344Gln|2200/2885|1030/1422|344/473||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.1030G>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.1030G>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.1030G>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.1030G>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.1030G>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.1030G>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.1030G>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.1030G>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.1030G>C||||||,C|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript||n.-1C>G|||||1812|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript||n.-1C>G|||||1778|,C|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1C>G|||||4670|,C|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1C>G|||||4559|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1C>G|||||4472|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1C>G|||||4666|,C|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2G>C|||||1521|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript||n.-1G>C|||||3107|,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+5763C>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+210C>G||||||,C|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+19248C>G||||||,C|non_coding_exon_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/12|n.1444C>G||||||,C|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/12|n.1418C>G||||||,C|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/12|n.1650C>G||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|8/14|n.1030G>C||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|5/10|n.1880G>C||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|5/11|n.1880G>C|||||| 22 24037178 . C T . . ANN=T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|6/12|c.1058C>T|p.Thr353Ile|1783/2333|1058/1608|353/535||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|7/12|c.650C>T|p.Thr217Ile|1763/2420|650/1014|217/337||,T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|6/11|c.1058C>T|p.Thr353Ile|2228/2885|1058/1422|353/473||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.1058C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.1058C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.1058C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.1058C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.1058C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.1058C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.1058C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.1058C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.1058C>T||||||,T|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript||n.-1G>A|||||1840|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript||n.-1G>A|||||1806|,T|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1G>A|||||4698|,T|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1G>A|||||4587|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1G>A|||||4500|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1G>A|||||4694|,T|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2C>T|||||1493|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript||n.-1C>T|||||3079|,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+5735G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+182G>A||||||,T|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+19220G>A||||||,T|non_coding_exon_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/12|n.1416G>A||||||,T|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/12|n.1390G>A||||||,T|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/12|n.1622G>A||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|8/14|n.1058C>T||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|5/10|n.1908C>T||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|5/11|n.1908C>T|||||| 22 24037193 . A T . . ANN=T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|6/12|c.1073A>T|p.Asp358Val|1798/2333|1073/1608|358/535||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|7/12|c.665A>T|p.Asp222Val|1778/2420|665/1014|222/337||,T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|6/11|c.1073A>T|p.Asp358Val|2243/2885|1073/1422|358/473||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.1073A>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.1073A>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.1073A>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.1073A>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.1073A>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.1073A>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.1073A>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.1073A>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.1073A>T||||||,T|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript||n.-1T>A|||||1855|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript||n.-1T>A|||||1821|,T|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1T>A|||||4713|,T|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1T>A|||||4602|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1T>A|||||4515|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1T>A|||||4709|,T|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2A>T|||||1478|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript||n.-1A>T|||||3064|,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+5720T>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+167T>A||||||,T|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+19205T>A||||||,T|non_coding_exon_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/12|n.1401T>A||||||,T|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/12|n.1375T>A||||||,T|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/12|n.1607T>A||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|8/14|n.1073A>T||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|5/10|n.1923A>T||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|5/11|n.1923A>T|||||| 22 24037199 . T G . . ANN=G|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|6/12|c.1079T>G|p.Leu360Arg|1804/2333|1079/1608|360/535||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|7/12|c.671T>G|p.Leu224Arg|1784/2420|671/1014|224/337||,G|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|6/11|c.1079T>G|p.Leu360Arg|2249/2885|1079/1422|360/473||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.1079T>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.1079T>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.1079T>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.1079T>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.1079T>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.1079T>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.1079T>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.1079T>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.1079T>G||||||,G|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript||n.-1A>C|||||1861|,G|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript||n.-1A>C|||||1827|,G|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1A>C|||||4719|,G|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1A>C|||||4608|,G|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1A>C|||||4521|,G|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1A>C|||||4715|,G|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2T>G|||||1472|WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript||n.-1T>G|||||3058|,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+5714A>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+161A>C||||||,G|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+19199A>C||||||,G|non_coding_exon_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/12|n.1395A>C||||||,G|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/12|n.1369A>C||||||,G|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/12|n.1601A>C||||||,G|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|8/14|n.1079T>G||||||,G|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|5/10|n.1929T>G||||||,G|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|5/11|n.1929T>G|||||| 22 24038779 . C A . . ANN=A|synonymous_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding|1/5|c.108C>A|p.Val36Val|109/759|108/465|36/154||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.1087-22C>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.1087-22C>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.1087-22C>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.1087-22C>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.1087-22C>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.1087-22C>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.1087-22C>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.1087-22C>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.1087-22C>A||||||,A|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript||n.-1G>T|||||3441|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript||n.-1G>T|||||3407|,A|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript||n.-1C>A|||||1478|,A|downstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000432595|processed_transcript||n.*601G>T|||||4197|,A|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|6/11|n.890-1075G>T||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|6/11|c.1087-22C>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|6/11|n.864-1075G>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+4134G>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|6/9|n.976-1075G>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|7/11|n.1096-1075G>T||||||,A|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+17619G>T||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|9/13|n.1254-22C>A||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|7/11|c.679-22C>A||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|6/10|c.1087-22C>A||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|5/9|n.1937-22C>A||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|5/10|n.1937-22C>A|||||| 22 24038780 . C T . . ANN=T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding|1/5|c.109C>T|p.Pro37Ser|110/759|109/465|37/154||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.1087-21C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.1087-21C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.1087-21C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.1087-21C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.1087-21C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.1087-21C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.1087-21C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.1087-21C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.1087-21C>T||||||,T|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript||n.-1G>A|||||3442|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript||n.-1G>A|||||3408|,T|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript||n.-1C>T|||||1477|,T|downstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000432595|processed_transcript||n.*601G>A|||||4196|,T|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|6/11|n.890-1076G>A||||||,T|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|6/11|c.1087-21C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|6/11|n.864-1076G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+4133G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|6/9|n.976-1076G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|7/11|n.1096-1076G>A||||||,T|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+17618G>A||||||,T|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|9/13|n.1254-21C>T||||||,T|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|7/11|c.679-21C>T||||||,T|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|6/10|c.1087-21C>T||||||,T|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|5/9|n.1937-21C>T||||||,T|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|5/10|n.1937-21C>T|||||| 22 24038781 . C T . . ANN=T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding|1/5|c.110C>T|p.Pro37Leu|111/759|110/465|37/154||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.1087-20C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.1087-20C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.1087-20C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.1087-20C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.1087-20C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.1087-20C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.1087-20C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.1087-20C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.1087-20C>T||||||,T|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript||n.-1G>A|||||3443|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript||n.-1G>A|||||3409|,T|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript||n.-1C>T|||||1476|,T|downstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000432595|processed_transcript||n.*601G>A|||||4195|,T|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|6/11|n.890-1077G>A||||||,T|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|6/11|c.1087-20C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|6/11|n.864-1077G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+4132G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|6/9|n.976-1077G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|7/11|n.1096-1077G>A||||||,T|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+17617G>A||||||,T|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|9/13|n.1254-20C>T||||||,T|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|7/11|c.679-20C>T||||||,T|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|6/10|c.1087-20C>T||||||,T|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|5/9|n.1937-20C>T||||||,T|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|5/10|n.1937-20C>T|||||| 22 24038786 . G A . . ANN=A|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding|1/5|c.115G>A|p.Ala39Thr|116/759|115/465|39/154||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.1087-15G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.1087-15G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.1087-15G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.1087-15G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.1087-15G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.1087-15G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.1087-15G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.1087-15G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.1087-15G>A||||||,A|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript||n.-1C>T|||||3448|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript||n.-1C>T|||||3414|,A|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript||n.-1G>A|||||1471|,A|downstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000432595|processed_transcript||n.*601C>T|||||4190|,A|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|6/11|n.890-1082C>T||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|6/11|c.1087-15G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|6/11|n.864-1082C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+4127C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|6/9|n.976-1082C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|7/11|n.1096-1082C>T||||||,A|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+17612C>T||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|9/13|n.1254-15G>A||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|7/11|c.679-15G>A||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|6/10|c.1087-15G>A||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|5/9|n.1937-15G>A||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|5/10|n.1937-15G>A|||||| 22 24038809 . C T . . ANN=T|synonymous_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|7/12|c.1095C>T|p.Ser365Ser|1820/2333|1095/1608|365/535||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|8/12|c.687C>T|p.Ser229Ser|1800/2420|687/1014|229/337||,T|synonymous_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|7/11|c.1095C>T|p.Ser365Ser|2265/2885|1095/1422|365/473||,T|synonymous_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding|1/5|c.138C>T|p.Ser46Ser|139/759|138/465|46/154||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.1095C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.1095C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.1095C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.1095C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.1095C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.1095C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.1095C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.1095C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.1095C>T||||||,T|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript||n.-1G>A|||||3471|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript||n.-1G>A|||||3437|,T|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript||n.-1C>T|||||1448|,T|downstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000432595|processed_transcript||n.*601G>A|||||4167|,T|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|6/11|n.890-1105G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|6/11|n.864-1105G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+4104G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|6/9|n.976-1105G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|7/11|n.1096-1105G>A||||||,T|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+17589G>A||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|10/14|n.1262C>T||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|6/10|n.1945C>T||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|6/11|n.1945C>T|||||| 22 24038835 . A ACC . . ANN=CC|frameshift_variant|HIGH|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|7/12|c.1125_1126dupCC|p.Gln376fs|1852/2333|1127/1608|376/535||WARNING_TRANSCRIPT_NO_STOP_CODON&INFO_REALIGN_3_PRIME,CC|frameshift_variant|HIGH|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|8/12|c.717_718dupCC|p.Gln240fs|1832/2420|719/1014|240/337||INFO_REALIGN_3_PRIME,CC|frameshift_variant|HIGH|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|7/11|c.1125_1126dupCC|p.Gln376fs|2297/2885|1127/1422|376/473||INFO_REALIGN_3_PRIME,CC|frameshift_variant|HIGH|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding|1/5|c.168_169dupCC|p.Gln57fs|171/759|170/465|57/154||WARNING_TRANSCRIPT_NO_START_CODON&INFO_REALIGN_3_PRIME,CC|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.1121_1122insCC||||||,CC|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.1121_1122insCC||||||,CC|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.1121_1122insCC||||||,CC|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.1121_1122insCC||||||,CC|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.1121_1122insCC||||||,CC|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.1121_1122insCC||||||,CC|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.1121_1122insCC||||||,CC|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.1121_1122insCC||||||,CC|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.1121_1122insCC||||||,CC|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript||n.-1_-1dupGG|||||3498|,CC|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript||n.-1_-1dupGG|||||3464|,CC|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript||n.-1_-1insCC|||||1421|,CC|downstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000432595|processed_transcript||n.*601_*601dupGG|||||4140|,CC|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|6/11|n.890-1133_890-1132dupGG||||||,CC|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|6/11|n.864-1133_864-1132dupGG||||||,CC|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+4076_927+4077dupGG||||||,CC|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|6/9|n.976-1133_976-1132dupGG||||||,CC|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|7/11|n.1096-1133_1096-1132dupGG||||||,CC|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+17561_711+17562dupGG||||||,CC|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|10/14|n.1292_1293dupCC||||||INFO_REALIGN_3_PRIME,CC|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|6/10|n.1975_1976dupCC||||||INFO_REALIGN_3_PRIME,CC|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|6/11|n.1975_1976dupCC||||||INFO_REALIGN_3_PRIME;LOF=(RGL4|ENSG00000159496|8|0.50) 22 24038847 . T C . . ANN=C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|7/12|c.1133T>C|p.Val378Ala|1858/2333|1133/1608|378/535||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|8/12|c.725T>C|p.Val242Ala|1838/2420|725/1014|242/337||,C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|7/11|c.1133T>C|p.Val378Ala|2303/2885|1133/1422|378/473||,C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding|1/5|c.176T>C|p.Val59Ala|177/759|176/465|59/154||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.1133T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.1133T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.1133T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.1133T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.1133T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.1133T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.1133T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.1133T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.1133T>C||||||,C|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript||n.-1A>G|||||3509|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript||n.-1A>G|||||3475|,C|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript||n.-1T>C|||||1410|,C|downstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000432595|processed_transcript||n.*601A>G|||||4129|,C|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|6/11|n.890-1143A>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|6/11|n.864-1143A>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+4066A>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|6/9|n.976-1143A>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|7/11|n.1096-1143A>G||||||,C|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+17551A>G||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|10/14|n.1300T>C||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|6/10|n.1983T>C||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|6/11|n.1983T>C|||||| 22 24038894 . T G . . ANN=G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.1161+19T>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.1161+19T>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.1161+19T>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.1161+19T>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.1161+19T>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.1161+19T>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.1161+19T>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.1161+19T>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.1161+19T>G||||||,G|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript||n.-1A>C|||||3556|,G|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript||n.-1A>C|||||3522|,G|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript||n.-1T>G|||||1363|,G|downstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000432595|processed_transcript||n.*601A>C|||||4082|,G|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|6/11|n.890-1190A>C||||||,G|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|7/11|c.1161+19T>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|6/11|n.864-1190A>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+4019A>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|6/9|n.976-1190A>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|7/11|n.1096-1190A>C||||||,G|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+17504A>C||||||,G|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|10/13|n.*20+19T>G||||||,G|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|8/11|c.753+19T>G||||||,G|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|7/10|c.1161+19T>G||||||,G|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|6/9|n.2011+19T>G||||||,G|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|6/10|n.2011+19T>G||||||,G|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding|1/4|c.204+19T>G||||||WARNING_TRANSCRIPT_NO_START_CODON 22 24039351 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|7/11|c.1162-7G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|splice_region_variant&intron_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|10/13|n.*21-7G>A||||||,A|splice_region_variant&intron_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|8/11|c.754-7G>A||||||,A|splice_region_variant&intron_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|7/10|c.1162-7G>A||||||,A|splice_region_variant&intron_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|6/9|n.2012-7G>A||||||,A|splice_region_variant&intron_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|6/10|n.2012-7G>A||||||,A|splice_region_variant&intron_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding|1/4|c.205-7G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.1162-7G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.1162-7G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.1162-7G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.1162-7G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.1162-7G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.1162-7G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.1162-7G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.1162-7G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.1162-7G>A||||||,A|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript||n.-1C>T|||||4013|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript||n.-1C>T|||||3979|,A|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript||n.-1G>A|||||906|,A|downstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000432595|processed_transcript||n.*601C>T|||||3625|,A|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|6/11|n.890-1647C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|6/11|n.864-1647C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+3562C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|6/9|n.976-1647C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|7/11|n.1096-1647C>T||||||,A|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+17047C>T|||||| 22 24039353 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|7/11|c.1162-5C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|splice_region_variant&intron_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|10/13|n.*21-5C>T||||||,T|splice_region_variant&intron_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|8/11|c.754-5C>T||||||,T|splice_region_variant&intron_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|7/10|c.1162-5C>T||||||,T|splice_region_variant&intron_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|6/9|n.2012-5C>T||||||,T|splice_region_variant&intron_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|6/10|n.2012-5C>T||||||,T|splice_region_variant&intron_variant|LOW|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding|1/4|c.205-5C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.1162-5C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.1162-5C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.1162-5C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.1162-5C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.1162-5C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.1162-5C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.1162-5C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.1162-5C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.1162-5C>T||||||,T|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript||n.-1G>A|||||4015|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript||n.-1G>A|||||3981|,T|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript||n.-1C>T|||||904|,T|downstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000432595|processed_transcript||n.*601G>A|||||3623|,T|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|6/11|n.890-1649G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|6/11|n.864-1649G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+3560G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|6/9|n.976-1649G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|7/11|n.1096-1649G>A||||||,T|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+17045G>A|||||| 22 24039380 . A T . . ANN=T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|8/12|c.1184A>T|p.Asp395Val|1909/2333|1184/1608|395/535||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|9/12|c.776A>T|p.Asp259Val|1889/2420|776/1014|259/337||,T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|8/11|c.1184A>T|p.Asp395Val|2354/2885|1184/1422|395/473||,T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding|2/5|c.227A>T|p.Asp76Val|228/759|227/465|76/154||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.1184A>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.1184A>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.1184A>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.1184A>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.1184A>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.1184A>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.1184A>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.1184A>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.1184A>T||||||,T|3_prime_UTR_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|11/14|n.*43A>T|||||525|,T|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript||n.-1T>A|||||4042|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript||n.-1T>A|||||4008|,T|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript||n.-1A>T|||||877|,T|downstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000432595|processed_transcript||n.*601T>A|||||3596|,T|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|6/11|n.890-1676T>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|6/11|n.864-1676T>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+3533T>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|6/9|n.976-1676T>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|7/11|n.1096-1676T>A||||||,T|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+17018T>A||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|11/14|n.*43A>T||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|7/10|n.2034A>T||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|7/11|n.2034A>T|||||| 22 24039410 . C T . . ANN=T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|8/12|c.1214C>T|p.Ser405Leu|1939/2333|1214/1608|405/535||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|9/12|c.806C>T|p.Ser269Leu|1919/2420|806/1014|269/337||,T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|8/11|c.1214C>T|p.Ser405Leu|2384/2885|1214/1422|405/473||,T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding|2/5|c.257C>T|p.Ser86Leu|258/759|257/465|86/154||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.1214C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.1214C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.1214C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.1214C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.1214C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.1214C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.1214C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.1214C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.1214C>T||||||,T|3_prime_UTR_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|11/14|n.*73C>T|||||555|,T|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript||n.-1G>A|||||4072|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript||n.-1G>A|||||4038|,T|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript||n.-1C>T|||||847|,T|downstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000432595|processed_transcript||n.*601G>A|||||3566|,T|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|6/11|n.890-1706G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|6/11|n.864-1706G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+3503G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|6/9|n.976-1706G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|7/11|n.1096-1706G>A||||||,T|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+16988G>A||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|11/14|n.*73C>T||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|7/10|n.2064C>T||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|7/11|n.2064C>T|||||| 22 24040008 . C T . . ANN=T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.1237-17C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.1237-17C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.1237-17C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.1237-17C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.1237-17C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.1237-17C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.1237-17C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.1237-17C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.1237-17C>T||||||,T|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript||n.-1G>A|||||4670|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript||n.-1G>A|||||4636|,T|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript||n.-1C>T|||||249|,T|downstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000432595|processed_transcript||n.*601G>A|||||2968|,T|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|6/11|n.890-2304G>A||||||,T|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|8/11|c.1237-17C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|6/11|n.864-2304G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+2905G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|6/9|n.976-2304G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|7/11|n.1096-2304G>A||||||,T|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+16390G>A||||||,T|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|11/13|n.*96-17C>T||||||,T|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|9/11|c.829-17C>T||||||,T|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|8/10|c.1237-17C>T||||||,T|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|7/9|n.2087-17C>T||||||,T|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|7/10|n.2087-17C>T||||||,T|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding|2/4|c.280-17C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 24040070 . G A . . ANN=A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.1260+22G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.1260+22G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.1260+22G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.1260+22G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.1260+22G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.1260+22G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.1260+22G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.1260+22G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.1260+22G>A||||||,A|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript||n.-1C>T|||||4732|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript||n.-1C>T|||||4698|,A|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript||n.-1G>A|||||187|,A|downstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000432595|processed_transcript||n.*601C>T|||||2906|,A|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|6/11|n.890-2366C>T||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|9/11|c.1260+22G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|6/11|n.864-2366C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+2843C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|6/9|n.976-2366C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|7/11|n.1096-2366C>T||||||,A|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+16328C>T||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|12/13|n.*119+22G>A||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|10/11|c.852+22G>A||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|9/10|c.1260+22G>A||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|8/9|n.2110+22G>A||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|8/10|n.2110+22G>A||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding|3/4|c.303+22G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 24040405 . C G . . ANN=G|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|10/12|c.1267C>G|p.Arg423Gly|1992/2333|1267/1608|423/535||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|11/12|c.859C>G|p.Arg287Gly|1972/2420|859/1014|287/337||,G|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|10/11|c.1267C>G|p.Arg423Gly|2437/2885|1267/1422|423/473||,G|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding|4/5|c.310C>G|p.Arg104Gly|311/759|310/465|104/154||WARNING_TRANSCRIPT_NO_START_CODON,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.1267C>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.1267C>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.1267C>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.1267C>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.1267C>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.1267C>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.1267C>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.1267C>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.1267C>G||||||,G|3_prime_UTR_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|13/14|n.*126C>G|||||1550|,G|downstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000432595|processed_transcript||n.*601G>C|||||2571|,G|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|6/11|n.890-2701G>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|6/11|n.864-2701G>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+2508G>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|6/9|n.976-2701G>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|7/11|n.1095+2508G>C||||||,G|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+15993G>C||||||,G|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|13/14|n.*126C>G||||||,G|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|9/10|n.2117C>G||||||,G|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|9/11|n.2117C>G||||||,G|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript|1/2|n.149C>G|||||| 22 24040475 . T C . . ANN=C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|10/12|c.1337T>C|p.Phe446Ser|2062/2333|1337/1608|446/535||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|11/12|c.929T>C|p.Phe310Ser|2042/2420|929/1014|310/337||,C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|10/11|c.1337T>C|p.Phe446Ser|2507/2885|1337/1422|446/473||,C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding|4/5|c.380T>C|p.Phe127Ser|381/759|380/465|127/154||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.1337T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.1337T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.1337T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.1337T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.1337T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.1337T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.1337T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.1337T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.1337T>C||||||,C|3_prime_UTR_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|13/14|n.*196T>C|||||1620|,C|downstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000432595|processed_transcript||n.*601A>G|||||2501|,C|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|6/11|n.890-2771A>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|6/11|n.864-2771A>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+2438A>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|6/9|n.976-2771A>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|7/11|n.1095+2438A>G||||||,C|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+15923A>G||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|13/14|n.*196T>C||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|9/10|n.2187T>C||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|9/11|n.2187T>C||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript|1/2|n.219T>C|||||| 22 24040507 . A G . . ANN=G|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|10/12|c.1369A>G|p.Ser457Gly|2094/2333|1369/1608|457/535||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|11/12|c.961A>G|p.Ser321Gly|2074/2420|961/1014|321/337||,G|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|10/11|c.1369A>G|p.Ser457Gly|2539/2885|1369/1422|457/473||,G|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding|4/5|c.412A>G|p.Ser138Gly|413/759|412/465|138/154||WARNING_TRANSCRIPT_NO_START_CODON,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.1369A>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.1369A>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.1369A>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.1369A>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.1369A>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.1369A>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.1369A>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.1369A>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.1369A>G||||||,G|3_prime_UTR_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|13/14|n.*228A>G|||||1652|,G|downstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000432595|processed_transcript||n.*601T>C|||||2469|,G|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|6/11|n.890-2803T>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|6/11|n.864-2803T>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+2406T>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|6/9|n.976-2803T>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|7/11|n.1095+2406T>C||||||,G|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+15891T>C||||||,G|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|13/14|n.*228A>G||||||,G|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|9/10|n.2219A>G||||||,G|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|9/11|n.2219A>G||||||,G|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript|1/2|n.251A>G|||||| 22 24040545 . G A . . ANN=A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.1382+25G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.1382+25G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.1382+25G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.1382+25G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.1382+25G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.1382+25G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.1382+25G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.1382+25G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.1382+25G>A||||||,A|downstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000432595|processed_transcript||n.*601C>T|||||2431|,A|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|6/11|n.890-2841C>T||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|10/11|c.1382+25G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|6/11|n.864-2841C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+2368C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|6/9|n.976-2841C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|7/11|n.1095+2368C>T||||||,A|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+15853C>T||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|13/13|n.*241+25G>A||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|11/11|c.974+25G>A||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|10/10|c.1382+25G>A||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|9/9|n.2232+25G>A||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|9/10|n.2232+25G>A||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding|4/4|c.425+25G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript|1/1|n.264+25G>A|||||| 22 24041012 . C A . . ANN=A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.1383-19C>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.1383-19C>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.1383-19C>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.1383-19C>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.1383-19C>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.1383-19C>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.1383-19C>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.1383-19C>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.1383-19C>A||||||,A|3_prime_UTR_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|14/14|n.*512C>A|||||2157|,A|downstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript||n.*394C>A|||||281|,A|downstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000432595|processed_transcript||n.*601G>T|||||1964|,A|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|6/11|n.890-3308G>T||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|11/11|c.1474-19C>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|6/11|n.864-3308G>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+1901G>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|6/9|n.976-3308G>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|7/11|n.1095+1901G>T||||||,A|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+15386G>T||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|11/11|c.975-19C>A||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|10/10|c.1383-19C>A||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|10/10|n.2367-19C>A||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding|4/4|c.426-19C>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|14/14|n.*512C>A||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|10/10|n.2503C>A|||||| 22 24041036 . A C . . ANN=C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|12/12|c.1479A>C|p.Gln493His|2204/2333|1479/1608|493/535||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|12/12|c.980A>C|p.Lys327Thr|2093/2420|980/1014|327/337||,C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|11/11|c.1388A>C|p.Lys463Thr|2558/2885|1388/1422|463/473||,C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding|5/5|c.431A>C|p.Lys144Thr|432/759|431/465|144/154||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.1388A>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.1388A>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.1388A>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.1388A>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.1388A>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.1388A>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.1388A>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.1388A>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.1388A>C||||||,C|3_prime_UTR_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|14/14|n.*536A>C|||||2181|,C|downstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript||n.*394A>C|||||305|,C|downstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000432595|processed_transcript||n.*601T>G|||||1940|,C|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|6/11|n.890-3332T>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|6/11|n.864-3332T>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+1877T>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|6/9|n.976-3332T>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|7/11|n.1095+1877T>G||||||,C|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+15362T>G||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|14/14|n.*536A>C||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|10/10|n.2527A>C||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|11/11|n.2372A>C|||||| 22 24041056 . C T . . ANN=T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|12/12|c.1499C>T|p.Ala500Val|2224/2333|1499/1608|500/535||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|12/12|c.1000C>T|p.Pro334Ser|2113/2420|1000/1014|334/337||,T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|11/11|c.1408C>T|p.Pro470Ser|2578/2885|1408/1422|470/473||,T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding|5/5|c.451C>T|p.Pro151Ser|452/759|451/465|151/154||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.1408C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.1408C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.1408C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.1408C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.1408C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.1408C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.1408C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.1408C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.1408C>T||||||,T|3_prime_UTR_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|14/14|n.*556C>T|||||2201|,T|downstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript||n.*394C>T|||||325|,T|downstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000432595|processed_transcript||n.*601G>A|||||1920|,T|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|6/11|n.890-3352G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|6/11|n.864-3352G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+1857G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|6/9|n.976-3352G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|7/11|n.1095+1857G>A||||||,T|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+15342G>A||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|14/14|n.*556C>T||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|10/10|n.2547C>T||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|11/11|n.2392C>T|||||| 22 24041062 . A G . . ANN=G|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|12/12|c.1505A>G|p.Lys502Arg|2230/2333|1505/1608|502/535||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|12/12|c.1006A>G|p.Asn336Asp|2119/2420|1006/1014|336/337||,G|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|11/11|c.1414A>G|p.Asn472Asp|2584/2885|1414/1422|472/473||,G|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding|5/5|c.457A>G|p.Asn153Asp|458/759|457/465|153/154||WARNING_TRANSCRIPT_NO_START_CODON,G|3_prime_UTR_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|14/14|n.*562A>G|||||2207|,G|downstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript||n.*394A>G|||||331|,G|downstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000432595|processed_transcript||n.*601T>C|||||1914|,G|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|6/11|n.890-3358T>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|6/11|n.864-3358T>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+1851T>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|6/9|n.976-3358T>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|7/11|n.1095+1851T>C||||||,G|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+15336T>C||||||,G|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|14/14|n.*562A>G||||||,G|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|10/10|n.2553A>G||||||,G|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|11/11|n.2398A>G|||||| 22 24085976 . G C . . ANN=C|3_prime_UTR_variant|MODIFIER|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding|2/2|c.*11C>G|||||11|,C|upstream_gene_variant|MODIFIER|LL22NC03-N27C7.1|ENSG00000270041|transcript|ENST00000602816|lincRNA||n.-1C>G|||||4500| 22 24085990 . T C . . ANN=C|synonymous_variant|LOW|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding|2/2|c.1338A>G|p.Leu446Leu|1799/4020|1338/1341|446/446||,C|upstream_gene_variant|MODIFIER|LL22NC03-N27C7.1|ENSG00000270041|transcript|ENST00000602816|lincRNA||n.-1A>G|||||4514| 22 24086026 . C T . . ANN=T|synonymous_variant|LOW|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding|2/2|c.1302G>A|p.Leu434Leu|1763/4020|1302/1341|434/446||,T|sequence_feature|LOW|ZNF70|ENSG00000187792|zinc_finger_region:C2H2-type_11|ENST00000341976|protein_coding|2/2|c.1302G>A||||||,T|upstream_gene_variant|MODIFIER|LL22NC03-N27C7.1|ENSG00000270041|transcript|ENST00000602816|lincRNA||n.-1G>A|||||4550| 22 24086055 . C T . . ANN=T|missense_variant|MODERATE|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding|2/2|c.1273G>A|p.Gly425Ser|1734/4020|1273/1341|425/446||,T|sequence_feature|LOW|ZNF70|ENSG00000187792|zinc_finger_region:C2H2-type_11|ENST00000341976|protein_coding|2/2|c.1273G>A||||||,T|upstream_gene_variant|MODIFIER|LL22NC03-N27C7.1|ENSG00000270041|transcript|ENST00000602816|lincRNA||n.-1G>A|||||4579| 22 24086107 . A G . . ANN=G|synonymous_variant|LOW|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding|2/2|c.1221T>C|p.Ile407Ile|1682/4020|1221/1341|407/446||,G|sequence_feature|LOW|ZNF70|ENSG00000187792|zinc_finger_region:C2H2-type_10|ENST00000341976|protein_coding|2/2|c.1221T>C||||||,G|upstream_gene_variant|MODIFIER|LL22NC03-N27C7.1|ENSG00000270041|transcript|ENST00000602816|lincRNA||n.-1T>C|||||4631| 22 24086195 . G A . . ANN=A|missense_variant|MODERATE|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding|2/2|c.1133C>T|p.Ala378Val|1594/4020|1133/1341|378/446||,A|sequence_feature|LOW|ZNF70|ENSG00000187792|zinc_finger_region:C2H2-type_9|ENST00000341976|protein_coding|2/2|c.1133C>T||||||,A|upstream_gene_variant|MODIFIER|LL22NC03-N27C7.1|ENSG00000270041|transcript|ENST00000602816|lincRNA||n.-1C>T|||||4719| 22 24086257 . G T . . ANN=T|synonymous_variant|LOW|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding|2/2|c.1071C>A|p.Ile357Ile|1532/4020|1071/1341|357/446||,T|sequence_feature|LOW|ZNF70|ENSG00000187792|zinc_finger_region:C2H2-type_8|ENST00000341976|protein_coding|2/2|c.1071C>A||||||,T|upstream_gene_variant|MODIFIER|LL22NC03-N27C7.1|ENSG00000270041|transcript|ENST00000602816|lincRNA||n.-1C>A|||||4781| 22 24086348 . C T . . ANN=T|missense_variant|MODERATE|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding|2/2|c.980G>A|p.Arg327His|1441/4020|980/1341|327/446||,T|sequence_feature|LOW|ZNF70|ENSG00000187792|zinc_finger_region:C2H2-type_7|ENST00000341976|protein_coding|2/2|c.980G>A||||||,T|upstream_gene_variant|MODIFIER|LL22NC03-N27C7.1|ENSG00000270041|transcript|ENST00000602816|lincRNA||n.-1G>A|||||4872| 22 24086454 . T G . . ANN=G|synonymous_variant|LOW|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding|2/2|c.874A>C|p.Arg292Arg|1335/4020|874/1341|292/446||,G|sequence_feature|LOW|ZNF70|ENSG00000187792|zinc_finger_region:C2H2-type_6|ENST00000341976|protein_coding|2/2|c.874A>C||||||,G|upstream_gene_variant|MODIFIER|LL22NC03-N27C7.1|ENSG00000270041|transcript|ENST00000602816|lincRNA||n.-1A>C|||||4978| 22 24086640 . C T . . ANN=T|missense_variant|MODERATE|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding|2/2|c.688G>A|p.Gly230Arg|1149/4020|688/1341|230/446||,T|sequence_feature|LOW|ZNF70|ENSG00000187792|zinc_finger_region:C2H2-type_4|ENST00000341976|protein_coding|2/2|c.688G>A|||||| 22 24086754 . C T . . ANN=T|missense_variant|MODERATE|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding|2/2|c.574G>A|p.Gly192Arg|1035/4020|574/1341|192/446|| 22 24086859 . G A . . ANN=A|stop_gained|HIGH|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding|2/2|c.469C>T|p.Arg157*|930/4020|469/1341|157/446||,A|sequence_feature|LOW|ZNF70|ENSG00000187792|zinc_finger_region:C2H2-type_1|ENST00000341976|protein_coding|2/2|c.469C>T|||||| 22 24086905 . C T . . ANN=T|synonymous_variant|LOW|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding|2/2|c.423G>A|p.Ala141Ala|884/4020|423/1341|141/446||,T|sequence_feature|LOW|ZNF70|ENSG00000187792|zinc_finger_region:C2H2-type_1|ENST00000341976|protein_coding|2/2|c.423G>A|||||| 22 24086939 . G T . . ANN=T|missense_variant|MODERATE|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding|2/2|c.389C>A|p.Pro130His|850/4020|389/1341|130/446|| 22 24086944 . G A . . ANN=A|synonymous_variant|LOW|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding|2/2|c.384C>T|p.Asn128Asn|845/4020|384/1341|128/446|| 22 24087013 . C T . . ANN=T|synonymous_variant|LOW|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding|2/2|c.315G>A|p.Gln105Gln|776/4020|315/1341|105/446|| 22 24087030 . C T . . ANN=T|missense_variant|MODERATE|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding|2/2|c.298G>A|p.Asp100Asn|759/4020|298/1341|100/446|| 22 24087115 . T C . . ANN=C|synonymous_variant|LOW|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding|2/2|c.213A>G|p.Ser71Ser|674/4020|213/1341|71/446|| 22 24087118 . G A . . ANN=A|synonymous_variant|LOW|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding|2/2|c.210C>T|p.Cys70Cys|671/4020|210/1341|70/446|| 22 24087185 . T C . . ANN=C|missense_variant|MODERATE|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding|2/2|c.143A>G|p.Tyr48Cys|604/4020|143/1341|48/446|| 22 24087231 . C T . . ANN=T|missense_variant|MODERATE|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding|2/2|c.97G>A|p.Asp33Asn|558/4020|97/1341|33/446|| 22 24087235 . C T . . ANN=T|synonymous_variant|LOW|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding|2/2|c.93G>A|p.Leu31Leu|554/4020|93/1341|31/446|| 22 24087319 . A C . . ANN=C|synonymous_variant|LOW|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding|2/2|c.9T>G|p.Val3Val|470/4020|9/1341|3/446|| 22 24087341 . T C . . ANN=C|5_prime_UTR_variant|MODIFIER|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding|2/2|c.-14A>G|||||14| 22 24087350 . A G . . ANN=G|5_prime_UTR_premature_start_codon_gain_variant|LOW|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding|2/2|c.-23T>C||||||,G|5_prime_UTR_variant|MODIFIER|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding|2/2|c.-23T>C|||||23| 22 24087363 . T C . . ANN=C|5_prime_UTR_variant|MODIFIER|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding|2/2|c.-36A>G|||||36| 22 24095103 . G A . . ANN=A|missense_variant|MODERATE|VPREB3|ENSG00000128218|transcript|ENST00000248948|protein_coding|2/2|c.332C>T|p.Ala111Val|437/610|332/372|111/123||,A|missense_variant|MODERATE|VPREB3|ENSG00000128218|transcript|ENST00000398465|protein_coding|2/2|c.284C>T|p.Ala95Val|330/503|284/324|95/107||,A|sequence_feature|LOW|VPREB3|ENSG00000128218|domain:Ig-like|ENST00000248948|protein_coding|2/2|c.332C>T||||||,A|sequence_feature|LOW|VPREB3|ENSG00000128218|disulfide_bond|ENST00000248948|protein_coding|2/2|c.332C>T||||||,A|upstream_gene_variant|MODIFIER|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding||c.-462C>T|||||1824| 22 24095119 . G A . . ANN=A|stop_gained|HIGH|VPREB3|ENSG00000128218|transcript|ENST00000248948|protein_coding|2/2|c.316C>T|p.Gln106*|421/610|316/372|106/123||,A|stop_gained|HIGH|VPREB3|ENSG00000128218|transcript|ENST00000398465|protein_coding|2/2|c.268C>T|p.Gln90*|314/503|268/324|90/107||,A|sequence_feature|LOW|VPREB3|ENSG00000128218|domain:Ig-like|ENST00000248948|protein_coding|2/2|c.316C>T||||||,A|sequence_feature|LOW|VPREB3|ENSG00000128218|disulfide_bond|ENST00000248948|protein_coding|2/2|c.316C>T||||||,A|upstream_gene_variant|MODIFIER|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding||c.-462C>T|||||1840| 22 24095127 . C G . . ANN=G|missense_variant|MODERATE|VPREB3|ENSG00000128218|transcript|ENST00000248948|protein_coding|2/2|c.308G>C|p.Ser103Thr|413/610|308/372|103/123||,G|missense_variant|MODERATE|VPREB3|ENSG00000128218|transcript|ENST00000398465|protein_coding|2/2|c.260G>C|p.Ser87Thr|306/503|260/324|87/107||,G|sequence_feature|LOW|VPREB3|ENSG00000128218|domain:Ig-like|ENST00000248948|protein_coding|2/2|c.308G>C||||||,G|sequence_feature|LOW|VPREB3|ENSG00000128218|disulfide_bond|ENST00000248948|protein_coding|2/2|c.308G>C||||||,G|upstream_gene_variant|MODIFIER|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding||c.-462G>C|||||1848| 22 24095199 . C T . . ANN=T|missense_variant|MODERATE|VPREB3|ENSG00000128218|transcript|ENST00000248948|protein_coding|2/2|c.236G>A|p.Arg79Gln|341/610|236/372|79/123||,T|missense_variant|MODERATE|VPREB3|ENSG00000128218|transcript|ENST00000398465|protein_coding|2/2|c.188G>A|p.Arg63Gln|234/503|188/324|63/107||,T|sequence_feature|LOW|VPREB3|ENSG00000128218|domain:Ig-like|ENST00000248948|protein_coding|2/2|c.236G>A||||||,T|sequence_feature|LOW|VPREB3|ENSG00000128218|disulfide_bond|ENST00000248948|protein_coding|2/2|c.236G>A||||||,T|upstream_gene_variant|MODIFIER|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding||c.-462G>A|||||1920| 22 24095221 . G A . . ANN=A|missense_variant|MODERATE|VPREB3|ENSG00000128218|transcript|ENST00000248948|protein_coding|2/2|c.214C>T|p.Arg72Cys|319/610|214/372|72/123||,A|missense_variant|MODERATE|VPREB3|ENSG00000128218|transcript|ENST00000398465|protein_coding|2/2|c.166C>T|p.Arg56Cys|212/503|166/324|56/107||,A|sequence_feature|LOW|VPREB3|ENSG00000128218|domain:Ig-like|ENST00000248948|protein_coding|2/2|c.214C>T||||||,A|sequence_feature|LOW|VPREB3|ENSG00000128218|disulfide_bond|ENST00000248948|protein_coding|2/2|c.214C>T||||||,A|upstream_gene_variant|MODIFIER|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding||c.-462C>T|||||1942| 22 24095278 . C T . . ANN=T|missense_variant|MODERATE|VPREB3|ENSG00000128218|transcript|ENST00000248948|protein_coding|2/2|c.157G>A|p.Gly53Ser|262/610|157/372|53/123||,T|missense_variant|MODERATE|VPREB3|ENSG00000128218|transcript|ENST00000398465|protein_coding|2/2|c.109G>A|p.Gly37Ser|155/503|109/324|37/107||,T|sequence_feature|LOW|VPREB3|ENSG00000128218|domain:Ig-like|ENST00000248948|protein_coding|2/2|c.157G>A||||||,T|sequence_feature|LOW|VPREB3|ENSG00000128218|disulfide_bond|ENST00000248948|protein_coding|2/2|c.157G>A||||||,T|upstream_gene_variant|MODIFIER|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding||c.-462G>A|||||1999| 22 24095296 . C T . . ANN=T|missense_variant|MODERATE|VPREB3|ENSG00000128218|transcript|ENST00000248948|protein_coding|2/2|c.139G>A|p.Val47Ile|244/610|139/372|47/123||,T|missense_variant|MODERATE|VPREB3|ENSG00000128218|transcript|ENST00000398465|protein_coding|2/2|c.91G>A|p.Val31Ile|137/503|91/324|31/107||,T|sequence_feature|LOW|VPREB3|ENSG00000128218|domain:Ig-like|ENST00000248948|protein_coding|2/2|c.139G>A||||||,T|sequence_feature|LOW|VPREB3|ENSG00000128218|disulfide_bond|ENST00000248948|protein_coding|2/2|c.139G>A||||||,T|upstream_gene_variant|MODIFIER|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding||c.-462G>A|||||2017| 22 24095313 . G T . . ANN=T|missense_variant|MODERATE|VPREB3|ENSG00000128218|transcript|ENST00000248948|protein_coding|2/2|c.122C>A|p.Thr41Lys|227/610|122/372|41/123||,T|missense_variant|MODERATE|VPREB3|ENSG00000128218|transcript|ENST00000398465|protein_coding|2/2|c.74C>A|p.Thr25Lys|120/503|74/324|25/107||,T|sequence_feature|LOW|VPREB3|ENSG00000128218|domain:Ig-like|ENST00000248948|protein_coding|2/2|c.122C>A||||||,T|sequence_feature|LOW|VPREB3|ENSG00000128218|disulfide_bond|ENST00000248948|protein_coding|2/2|c.122C>A||||||,T|upstream_gene_variant|MODIFIER|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding||c.-462C>A|||||2034| 22 24095337 . C T . . ANN=T|missense_variant|MODERATE|VPREB3|ENSG00000128218|transcript|ENST00000248948|protein_coding|2/2|c.98G>A|p.Gly33Asp|203/610|98/372|33/123||,T|missense_variant&splice_region_variant|MODERATE|VPREB3|ENSG00000128218|transcript|ENST00000398465|protein_coding|2/2|c.50G>A|p.Gly17Asp|96/503|50/324|17/107||,T|sequence_feature|LOW|VPREB3|ENSG00000128218|domain:Ig-like|ENST00000248948|protein_coding|2/2|c.98G>A||||||,T|upstream_gene_variant|MODIFIER|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding||c.-462G>A|||||2058| 22 24095350 . G T . . ANN=T|missense_variant|MODERATE|VPREB3|ENSG00000128218|transcript|ENST00000248948|protein_coding|2/2|c.85C>A|p.Leu29Met|190/610|85/372|29/123||,T|sequence_feature|LOW|VPREB3|ENSG00000128218|domain:Ig-like|ENST00000248948|protein_coding|2/2|c.85C>A||||||,T|upstream_gene_variant|MODIFIER|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding||c.-462C>A|||||2071|,T|intron_variant|MODIFIER|VPREB3|ENSG00000128218|transcript|ENST00000398465|protein_coding|1/1|c.50-13C>A|||||| 22 24095351 . C T . . ANN=T|synonymous_variant|LOW|VPREB3|ENSG00000128218|transcript|ENST00000248948|protein_coding|2/2|c.84G>A|p.Leu28Leu|189/610|84/372|28/123||,T|sequence_feature|LOW|VPREB3|ENSG00000128218|domain:Ig-like|ENST00000248948|protein_coding|2/2|c.84G>A||||||,T|upstream_gene_variant|MODIFIER|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding||c.-462G>A|||||2072|,T|intron_variant|MODIFIER|VPREB3|ENSG00000128218|transcript|ENST00000398465|protein_coding|1/1|c.50-14G>A|||||| 22 24095406 . C G . . ANN=G|sequence_feature|LOW|VPREB3|ENSG00000128218|signal_peptide|ENST00000248948|protein_coding|2/2|c.50-21G>C||||||,G|sequence_feature|LOW|VPREB3|ENSG00000128218|signal_peptide|ENST00000248948|protein_coding|1/2|c.50-21G>C||||||,G|upstream_gene_variant|MODIFIER|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding||c.-462G>C|||||2127|,G|intron_variant|MODIFIER|VPREB3|ENSG00000128218|transcript|ENST00000248948|protein_coding|1/1|c.50-21G>C||||||,G|intron_variant|MODIFIER|VPREB3|ENSG00000128218|transcript|ENST00000398465|protein_coding|1/1|c.50-69G>C|||||| 22 24096464 . C T . . ANN=T|sequence_feature|LOW|VPREB3|ENSG00000128218|signal_peptide|ENST00000248948|protein_coding|2/2|c.49+38G>A||||||,T|sequence_feature|LOW|VPREB3|ENSG00000128218|signal_peptide|ENST00000248948|protein_coding|1/2|c.49+38G>A||||||,T|upstream_gene_variant|MODIFIER|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding||c.-462G>A|||||3185|,T|intron_variant|MODIFIER|VPREB3|ENSG00000128218|transcript|ENST00000248948|protein_coding|1/1|c.49+38G>A||||||,T|intron_variant|MODIFIER|VPREB3|ENSG00000128218|transcript|ENST00000398465|protein_coding|1/1|c.49+38G>A|||||| 22 24096541 . G A . . ANN=A|missense_variant|MODERATE|VPREB3|ENSG00000128218|transcript|ENST00000248948|protein_coding|1/2|c.10C>T|p.Arg4Trp|115/610|10/372|4/123||,A|missense_variant|MODERATE|VPREB3|ENSG00000128218|transcript|ENST00000398465|protein_coding|1/2|c.10C>T|p.Arg4Trp|56/503|10/324|4/107||,A|sequence_feature|LOW|VPREB3|ENSG00000128218|signal_peptide|ENST00000248948|protein_coding|2/2|c.10C>T||||||,A|sequence_feature|LOW|VPREB3|ENSG00000128218|signal_peptide|ENST00000248948|protein_coding|1/2|c.10C>T||||||,A|upstream_gene_variant|MODIFIER|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding||c.-462C>T|||||3262| 22 24096578 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|VPREB3|ENSG00000128218|transcript|ENST00000248948|protein_coding|1/2|c.-28C>T|||||28|,A|5_prime_UTR_variant|MODIFIER|VPREB3|ENSG00000128218|transcript|ENST00000398465|protein_coding|1/2|c.-28C>T|||||28|,A|upstream_gene_variant|MODIFIER|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding||c.-462C>T|||||3299| 22 24106795 . GTGTCCTTCATCGTC G . . ANN=|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron||n.-1_-1delTGTCCTTCATCGTC|||||3617|,|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript||n.-1_-1delTGTCCTTCATCGTC|||||4034|,|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript||n.-1_-1delTGTCCTTCATCGTC|||||4051|,|downstream_gene_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000401675|protein_coding||c.*518_*518delGACGATGAAGGACA|||||1225|,|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000498542|retained_intron||n.*588_*588delTGTCCTTCATCGTC|||||246|,|downstream_gene_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000520222|protein_coding||c.*170_*170delGACGATGAAGGACA|||||1225|,|downstream_gene_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000484558|protein_coding||c.*998_*998delGACGATGAAGGACA|||||1225|,|downstream_gene_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000523865|retained_intron||n.*490_*490delGACGATGAAGGACA|||||1265|,|downstream_gene_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000517886|nonsense_mediated_decay||n.*346_*346delGACGATGAAGGACA|||||1326|,|intron_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000305199|protein_coding|3/5|c.256-29_256-16delGTCCTTCATCGTCT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000402217|protein_coding|3/5|c.251-29_251-16delGTCCTTCATCGTCT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000382821|protein_coding|3/5|c.266-29_266-16delGTCCTTCATCGTCT||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000477921|retained_intron|3/3|n.770_783delGTCCTTCATCGTCT||||||INFO_REALIGN_3_PRIME 22 24106989 . G A . . ANN=A|missense_variant|MODERATE|C22orf15|ENSG00000169314|transcript|ENST00000305199|protein_coding|5/6|c.340G>A|p.Ala114Thr|440/681|340/474|114/157||,A|missense_variant|MODERATE|C22orf15|ENSG00000169314|transcript|ENST00000402217|protein_coding|5/6|c.335G>A|p.Arg112His|588/829|335/447|112/148||,A|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron||n.-1G>A|||||3424|,A|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript||n.-1G>A|||||3841|,A|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript||n.-1G>A|||||3858|,A|downstream_gene_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000401675|protein_coding||c.*518C>T|||||1032|,A|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000498542|retained_intron||n.*588G>A|||||439|,A|downstream_gene_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000520222|protein_coding||c.*170C>T|||||1032|,A|downstream_gene_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000484558|protein_coding||c.*998C>T|||||1032|,A|downstream_gene_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000523865|retained_intron||n.*490C>T|||||1072|,A|downstream_gene_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000517886|nonsense_mediated_decay||n.*346C>T|||||1133|,A|intron_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000382821|protein_coding|4/5|c.340+89G>A||||||,A|non_coding_exon_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000477921|retained_intron|3/3|n.962G>A|||||| 22 24107034 . G A . . ANN=A|missense_variant|MODERATE|C22orf15|ENSG00000169314|transcript|ENST00000305199|protein_coding|5/6|c.385G>A|p.Val129Ile|485/681|385/474|129/157||,A|missense_variant|MODERATE|C22orf15|ENSG00000169314|transcript|ENST00000402217|protein_coding|5/6|c.380G>A|p.Arg127His|633/829|380/447|127/148||,A|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron||n.-1G>A|||||3379|,A|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript||n.-1G>A|||||3796|,A|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript||n.-1G>A|||||3813|,A|downstream_gene_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000401675|protein_coding||c.*518C>T|||||987|,A|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000498542|retained_intron||n.*588G>A|||||484|,A|downstream_gene_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000520222|protein_coding||c.*170C>T|||||987|,A|downstream_gene_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000484558|protein_coding||c.*998C>T|||||987|,A|downstream_gene_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000523865|retained_intron||n.*490C>T|||||1027|,A|downstream_gene_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000517886|nonsense_mediated_decay||n.*346C>T|||||1088|,A|intron_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000382821|protein_coding|4/5|c.340+134G>A||||||,A|non_coding_exon_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000477921|retained_intron|3/3|n.1007G>A|||||| 22 24108183 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000401675|protein_coding|4/4|c.*11G>A|||||11|,T|3_prime_UTR_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000520222|protein_coding|3/3|c.*52G>A|||||153|,T|3_prime_UTR_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000484558|protein_coding|4/4|c.*11G>A|||||11|,T|3_prime_UTR_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000517886|nonsense_mediated_decay|4/4|n.*87G>A|||||188|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron||n.-1C>T|||||2230|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript||n.-1C>T|||||2647|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript||n.-1C>T|||||2664|,T|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000305199|protein_coding||c.*574C>T|||||135|,T|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000498542|retained_intron||n.*588C>T|||||1633|,T|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000477921|retained_intron||n.*2021C>T|||||135|,T|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000402217|protein_coding||c.*700C>T|||||135|,T|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000382821|protein_coding||c.*513C>T|||||135|,T|non_coding_exon_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000523865|retained_intron|2/2|n.368G>A||||||,T|non_coding_exon_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000517886|nonsense_mediated_decay|4/4|n.*87G>A|||||| 22 24108238 . C T . . ANN=T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron||n.-1C>T|||||2175|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript||n.-1C>T|||||2592|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript||n.-1C>T|||||2609|,T|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000305199|protein_coding||c.*574C>T|||||190|,T|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000498542|retained_intron||n.*588C>T|||||1688|,T|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000477921|retained_intron||n.*2021C>T|||||190|,T|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000402217|protein_coding||c.*700C>T|||||190|,T|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000382821|protein_coding||c.*513C>T|||||190|,T|intron_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000401675|protein_coding|3/3|c.431-25G>A||||||,T|intron_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000520222|protein_coding|2/2|c.*22-25G>A||||||,T|intron_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000484558|protein_coding|3/3|c.410-25G>A||||||,T|intron_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000523865|retained_intron|1/1|n.338-25G>A||||||,T|intron_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000517886|nonsense_mediated_decay|3/3|n.*57-25G>A|||||| 22 24108282 . C T . . ANN=T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron||n.-1C>T|||||2131|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript||n.-1C>T|||||2548|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript||n.-1C>T|||||2565|,T|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000305199|protein_coding||c.*574C>T|||||234|,T|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000498542|retained_intron||n.*588C>T|||||1732|,T|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000477921|retained_intron||n.*2021C>T|||||234|,T|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000402217|protein_coding||c.*700C>T|||||234|,T|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000382821|protein_coding||c.*513C>T|||||234|,T|intron_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000401675|protein_coding|3/3|c.430+33G>A||||||,T|intron_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000520222|protein_coding|2/2|c.*21+33G>A||||||,T|intron_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000484558|protein_coding|3/3|c.409+33G>A||||||,T|intron_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000523865|retained_intron|1/1|n.337+33G>A||||||,T|intron_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000517886|nonsense_mediated_decay|3/3|n.*56+33G>A|||||| 22 24108288 . C G . . ANN=G|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron||n.-1C>G|||||2125|,G|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript||n.-1C>G|||||2542|,G|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript||n.-1C>G|||||2559|,G|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000305199|protein_coding||c.*574C>G|||||240|,G|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000498542|retained_intron||n.*588C>G|||||1738|,G|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000477921|retained_intron||n.*2021C>G|||||240|,G|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000402217|protein_coding||c.*700C>G|||||240|,G|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000382821|protein_coding||c.*513C>G|||||240|,G|intron_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000401675|protein_coding|3/3|c.430+27G>C||||||,G|intron_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000520222|protein_coding|2/2|c.*21+27G>C||||||,G|intron_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000484558|protein_coding|3/3|c.409+27G>C||||||,G|intron_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000523865|retained_intron|1/1|n.337+27G>C||||||,G|intron_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000517886|nonsense_mediated_decay|3/3|n.*56+27G>C|||||| 22 24108303 . C A . . ANN=A|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron||n.-1C>A|||||2110|,A|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript||n.-1C>A|||||2527|,A|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript||n.-1C>A|||||2544|,A|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000305199|protein_coding||c.*574C>A|||||255|,A|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000498542|retained_intron||n.*588C>A|||||1753|,A|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000477921|retained_intron||n.*2021C>A|||||255|,A|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000402217|protein_coding||c.*700C>A|||||255|,A|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000382821|protein_coding||c.*513C>A|||||255|,A|intron_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000401675|protein_coding|3/3|c.430+12G>T||||||,A|intron_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000520222|protein_coding|2/2|c.*21+12G>T||||||,A|intron_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000484558|protein_coding|3/3|c.409+12G>T||||||,A|intron_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000523865|retained_intron|1/1|n.337+12G>T||||||,A|intron_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000517886|nonsense_mediated_decay|3/3|n.*56+12G>T|||||| 22 24108394 . C T . . ANN=T|stop_gained|HIGH|CHCHD10|ENSG00000250479|transcript|ENST00000520222|protein_coding|2/3|c.110G>A|p.Trp37*|112/384|110/168|37/55||,T|synonymous_variant|LOW|CHCHD10|ENSG00000250479|transcript|ENST00000401675|protein_coding|3/4|c.351G>A|p.Leu117Leu|419/691|351/450|117/149||,T|synonymous_variant|LOW|CHCHD10|ENSG00000250479|transcript|ENST00000484558|protein_coding|3/4|c.330G>A|p.Leu110Leu|899/1171|330/429|110/142||,T|sequence_feature|LOW|CHCHD10|ENSG00000250479|domain:CHCH|ENST00000484558|protein_coding|3/4|c.330G>A||||||,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron||n.-1C>T|||||2019|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript||n.-1C>T|||||2436|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript||n.-1C>T|||||2453|,T|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000305199|protein_coding||c.*574C>T|||||346|,T|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000498542|retained_intron||n.*588C>T|||||1844|,T|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000477921|retained_intron||n.*2021C>T|||||346|,T|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000402217|protein_coding||c.*700C>T|||||346|,T|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000382821|protein_coding||c.*513C>T|||||346|,T|non_coding_exon_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000523865|retained_intron|1/2|n.258G>A||||||,T|non_coding_exon_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000517886|nonsense_mediated_decay|3/4|n.277G>A|||||| 22 24108412 . G A . . ANN=A|missense_variant|MODERATE|CHCHD10|ENSG00000250479|transcript|ENST00000520222|protein_coding|2/3|c.92C>T|p.Thr31Met|94/384|92/168|31/55||,A|synonymous_variant|LOW|CHCHD10|ENSG00000250479|transcript|ENST00000401675|protein_coding|3/4|c.333C>T|p.Tyr111Tyr|401/691|333/450|111/149||,A|synonymous_variant|LOW|CHCHD10|ENSG00000250479|transcript|ENST00000484558|protein_coding|3/4|c.312C>T|p.Tyr104Tyr|881/1171|312/429|104/142||,A|sequence_feature|LOW|CHCHD10|ENSG00000250479|domain:CHCH|ENST00000484558|protein_coding|3/4|c.312C>T||||||,A|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron||n.-1G>A|||||2001|,A|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript||n.-1G>A|||||2418|,A|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript||n.-1G>A|||||2435|,A|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000305199|protein_coding||c.*574G>A|||||364|,A|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000498542|retained_intron||n.*588G>A|||||1862|,A|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000477921|retained_intron||n.*2021G>A|||||364|,A|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000402217|protein_coding||c.*700G>A|||||364|,A|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000382821|protein_coding||c.*513G>A|||||364|,A|non_coding_exon_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000523865|retained_intron|1/2|n.240C>T||||||,A|non_coding_exon_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000517886|nonsense_mediated_decay|3/4|n.259C>T|||||| 22 24108438 . G T . . ANN=T|missense_variant|MODERATE|CHCHD10|ENSG00000250479|transcript|ENST00000401675|protein_coding|3/4|c.307C>A|p.Pro103Thr|375/691|307/450|103/149||,T|missense_variant|MODERATE|CHCHD10|ENSG00000250479|transcript|ENST00000520222|protein_coding|2/3|c.66C>A|p.Ser22Arg|68/384|66/168|22/55||,T|missense_variant|MODERATE|CHCHD10|ENSG00000250479|transcript|ENST00000484558|protein_coding|3/4|c.286C>A|p.Pro96Thr|855/1171|286/429|96/142||,T|sequence_feature|LOW|CHCHD10|ENSG00000250479|domain:CHCH|ENST00000484558|protein_coding|3/4|c.286C>A||||||,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron||n.-1G>T|||||1975|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript||n.-1G>T|||||2392|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript||n.-1G>T|||||2409|,T|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000305199|protein_coding||c.*574G>T|||||390|,T|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000498542|retained_intron||n.*588G>T|||||1888|,T|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000477921|retained_intron||n.*2021G>T|||||390|,T|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000402217|protein_coding||c.*700G>T|||||390|,T|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000382821|protein_coding||c.*513G>T|||||390|,T|non_coding_exon_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000523865|retained_intron|1/2|n.214C>A||||||,T|non_coding_exon_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000517886|nonsense_mediated_decay|3/4|n.233C>A|||||| 22 24109550 . T C . . ANN=C|upstream_gene_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000523865|retained_intron||n.-1A>G|||||899|,C|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron||n.-1T>C|||||863|,C|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript||n.-1T>C|||||1280|,C|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript||n.-1T>C|||||1297|,C|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000305199|protein_coding||c.*574T>C|||||1502|,C|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000498542|retained_intron||n.*588T>C|||||3000|,C|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000477921|retained_intron||n.*2021T>C|||||1502|,C|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000402217|protein_coding||c.*700T>C|||||1502|,C|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000382821|protein_coding||c.*513T>C|||||1502|,C|intron_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000401675|protein_coding|2/3|c.261+11A>G||||||,C|intron_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000520222|protein_coding|1/2|c.41+471A>G||||||,C|intron_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000484558|protein_coding|2/3|c.261+11A>G||||||,C|intron_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000517886|nonsense_mediated_decay|2/3|n.208+11A>G|||||| 22 24109633 . G A . . ANN=A|synonymous_variant|LOW|CHCHD10|ENSG00000250479|transcript|ENST00000401675|protein_coding|2/4|c.189C>T|p.His63His|257/691|189/450|63/149||,A|synonymous_variant|LOW|CHCHD10|ENSG00000250479|transcript|ENST00000484558|protein_coding|2/4|c.189C>T|p.His63His|758/1171|189/429|63/142||,A|upstream_gene_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000523865|retained_intron||n.-1C>T|||||982|,A|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron||n.-1G>A|||||780|,A|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript||n.-1G>A|||||1197|,A|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript||n.-1G>A|||||1214|,A|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000305199|protein_coding||c.*574G>A|||||1585|,A|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000498542|retained_intron||n.*588G>A|||||3083|,A|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000477921|retained_intron||n.*2021G>A|||||1585|,A|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000402217|protein_coding||c.*700G>A|||||1585|,A|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000382821|protein_coding||c.*513G>A|||||1585|,A|intron_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000520222|protein_coding|1/2|c.41+388C>T||||||,A|non_coding_exon_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000517886|nonsense_mediated_decay|2/4|n.136C>T|||||| 22 24109686 . C A . . ANN=A|missense_variant|MODERATE|CHCHD10|ENSG00000250479|transcript|ENST00000401675|protein_coding|2/4|c.136G>T|p.Ala46Ser|204/691|136/450|46/149||,A|missense_variant|MODERATE|CHCHD10|ENSG00000250479|transcript|ENST00000484558|protein_coding|2/4|c.136G>T|p.Ala46Ser|705/1171|136/429|46/142||,A|upstream_gene_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000523865|retained_intron||n.-1G>T|||||1035|,A|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron||n.-1C>A|||||727|,A|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript||n.-1C>A|||||1144|,A|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript||n.-1C>A|||||1161|,A|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000305199|protein_coding||c.*574C>A|||||1638|,A|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000498542|retained_intron||n.*588C>A|||||3136|,A|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000477921|retained_intron||n.*2021C>A|||||1638|,A|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000402217|protein_coding||c.*700C>A|||||1638|,A|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000382821|protein_coding||c.*513C>A|||||1638|,A|intron_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000520222|protein_coding|1/2|c.41+335G>T||||||,A|non_coding_exon_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000517886|nonsense_mediated_decay|2/4|n.83G>T|||||| 22 24109975 . A C . . ANN=C|sequence_feature|LOW|CHCHD10|ENSG00000250479|transit_peptide:Mitochondrion|ENST00000484558|protein_coding|2/4|c.41+46T>G||||||,C|sequence_feature|LOW|CHCHD10|ENSG00000250479|transit_peptide:Mitochondrion|ENST00000484558|protein_coding|1/4|c.41+46T>G||||||,C|upstream_gene_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000523865|retained_intron||n.-1T>G|||||1324|,C|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron||n.-1A>C|||||438|,C|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript||n.-1A>C|||||855|,C|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript||n.-1A>C|||||872|,C|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000305199|protein_coding||c.*574A>C|||||1927|,C|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000498542|retained_intron||n.*588A>C|||||3425|,C|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000477921|retained_intron||n.*2021A>C|||||1927|,C|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000402217|protein_coding||c.*700A>C|||||1927|,C|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000382821|protein_coding||c.*513A>C|||||1927|,C|intron_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000401675|protein_coding|1/3|c.41+46T>G||||||,C|intron_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000520222|protein_coding|1/2|c.41+46T>G||||||,C|intron_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000484558|protein_coding|1/3|c.41+46T>G||||||,C|intron_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000517886|nonsense_mediated_decay|1/3|n.41+46T>G|||||| 22 24121378 . C T . . ANN=T|missense_variant|MODERATE|MMP11|ENSG00000099953|transcript|ENST00000215743|protein_coding|2/8|c.113C>T|p.Ala38Val|165/2291|113/1467|38/488||,T|sequence_feature|LOW|MMP11|ENSG00000099953|maturation_peptide:Activation_peptide|ENST00000215743|protein_coding|1/8|c.113C>T||||||,T|sequence_feature|LOW|MMP11|ENSG00000099953|maturation_peptide:Activation_peptide|ENST00000215743|protein_coding|2/8|c.113C>T||||||,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000434318|nonsense_mediated_decay||n.-3C>T|||||1689|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000493132|retained_intron||n.-1C>T|||||1750|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000492464|retained_intron||n.-1C>T|||||1766|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000488363|processed_transcript||n.-1C>T|||||2073|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000480185|processed_transcript||n.-1C>T|||||2623|,T|downstream_gene_variant|MODIFIER|AP000349.1|ENSG00000267954|transcript|ENST00000598975|protein_coding||c.*747G>A|||||3089|,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron|3/8|n.755C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript|3/6|n.277C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript|2/4|n.139C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465730|retained_intron|2/2|n.138C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000428253|nonsense_mediated_decay|2/3|n.113C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000437086|nonsense_mediated_decay|2/8|n.113C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000460352|processed_transcript|2/5|n.173C>T|||||| 22 24121395 . G A . . ANN=A|missense_variant|MODERATE|MMP11|ENSG00000099953|transcript|ENST00000215743|protein_coding|2/8|c.130G>A|p.Glu44Lys|182/2291|130/1467|44/488||,A|sequence_feature|LOW|MMP11|ENSG00000099953|maturation_peptide:Activation_peptide|ENST00000215743|protein_coding|1/8|c.130G>A||||||,A|sequence_feature|LOW|MMP11|ENSG00000099953|maturation_peptide:Activation_peptide|ENST00000215743|protein_coding|2/8|c.130G>A||||||,A|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000434318|nonsense_mediated_decay||n.-3G>A|||||1672|,A|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000493132|retained_intron||n.-1G>A|||||1733|,A|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000492464|retained_intron||n.-1G>A|||||1749|,A|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000488363|processed_transcript||n.-1G>A|||||2056|,A|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000480185|processed_transcript||n.-1G>A|||||2606|,A|downstream_gene_variant|MODIFIER|AP000349.1|ENSG00000267954|transcript|ENST00000598975|protein_coding||c.*747C>T|||||3072|,A|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron|3/8|n.772G>A||||||,A|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript|3/6|n.294G>A||||||,A|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript|2/4|n.156G>A||||||,A|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465730|retained_intron|2/2|n.155G>A||||||,A|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000428253|nonsense_mediated_decay|2/3|n.130G>A||||||,A|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000437086|nonsense_mediated_decay|2/8|n.130G>A||||||,A|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000460352|processed_transcript|2/5|n.190G>A|||||| 22 24121441 . C T . . ANN=T|missense_variant|MODERATE|MMP11|ENSG00000099953|transcript|ENST00000215743|protein_coding|2/8|c.176C>T|p.Pro59Leu|228/2291|176/1467|59/488||,T|sequence_feature|LOW|MMP11|ENSG00000099953|maturation_peptide:Activation_peptide|ENST00000215743|protein_coding|1/8|c.176C>T||||||,T|sequence_feature|LOW|MMP11|ENSG00000099953|maturation_peptide:Activation_peptide|ENST00000215743|protein_coding|2/8|c.176C>T||||||,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000434318|nonsense_mediated_decay||n.-3C>T|||||1626|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000493132|retained_intron||n.-1C>T|||||1687|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000492464|retained_intron||n.-1C>T|||||1703|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000488363|processed_transcript||n.-1C>T|||||2010|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000480185|processed_transcript||n.-1C>T|||||2560|,T|downstream_gene_variant|MODIFIER|AP000349.1|ENSG00000267954|transcript|ENST00000598975|protein_coding||c.*747G>A|||||3026|,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron|3/8|n.818C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript|3/6|n.340C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript|2/4|n.202C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465730|retained_intron|2/2|n.201C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000428253|nonsense_mediated_decay|2/3|n.176C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000437086|nonsense_mediated_decay|2/8|n.176C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000460352|processed_transcript|2/5|n.236C>T|||||| 22 24121447 . C T . . ANN=T|missense_variant|MODERATE|MMP11|ENSG00000099953|transcript|ENST00000215743|protein_coding|2/8|c.182C>T|p.Pro61Leu|234/2291|182/1467|61/488||,T|sequence_feature|LOW|MMP11|ENSG00000099953|maturation_peptide:Activation_peptide|ENST00000215743|protein_coding|1/8|c.182C>T||||||,T|sequence_feature|LOW|MMP11|ENSG00000099953|maturation_peptide:Activation_peptide|ENST00000215743|protein_coding|2/8|c.182C>T||||||,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000434318|nonsense_mediated_decay||n.-3C>T|||||1620|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000493132|retained_intron||n.-1C>T|||||1681|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000492464|retained_intron||n.-1C>T|||||1697|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000488363|processed_transcript||n.-1C>T|||||2004|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000480185|processed_transcript||n.-1C>T|||||2554|,T|downstream_gene_variant|MODIFIER|AP000349.1|ENSG00000267954|transcript|ENST00000598975|protein_coding||c.*747G>A|||||3020|,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron|3/8|n.824C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript|3/6|n.346C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript|2/4|n.208C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465730|retained_intron|2/2|n.207C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000428253|nonsense_mediated_decay|2/3|n.182C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000437086|nonsense_mediated_decay|2/8|n.182C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000460352|processed_transcript|2/5|n.242C>T|||||| 22 24121459 . C T . . ANN=T|missense_variant|MODERATE|MMP11|ENSG00000099953|transcript|ENST00000215743|protein_coding|2/8|c.194C>T|p.Thr65Met|246/2291|194/1467|65/488||,T|sequence_feature|LOW|MMP11|ENSG00000099953|maturation_peptide:Activation_peptide|ENST00000215743|protein_coding|1/8|c.194C>T||||||,T|sequence_feature|LOW|MMP11|ENSG00000099953|maturation_peptide:Activation_peptide|ENST00000215743|protein_coding|2/8|c.194C>T||||||,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000434318|nonsense_mediated_decay||n.-3C>T|||||1608|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000493132|retained_intron||n.-1C>T|||||1669|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000492464|retained_intron||n.-1C>T|||||1685|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000488363|processed_transcript||n.-1C>T|||||1992|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000480185|processed_transcript||n.-1C>T|||||2542|,T|downstream_gene_variant|MODIFIER|AP000349.1|ENSG00000267954|transcript|ENST00000598975|protein_coding||c.*747G>A|||||3008|,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron|3/8|n.836C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript|3/6|n.358C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript|2/4|n.220C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465730|retained_intron|2/2|n.219C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000428253|nonsense_mediated_decay|2/3|n.194C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000437086|nonsense_mediated_decay|2/8|n.194C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000460352|processed_transcript|2/5|n.254C>T|||||| 22 24121521 . T C . . ANN=C|missense_variant|MODERATE|MMP11|ENSG00000099953|transcript|ENST00000215743|protein_coding|2/8|c.256T>C|p.Ser86Pro|308/2291|256/1467|86/488||,C|sequence_feature|LOW|MMP11|ENSG00000099953|maturation_peptide:Activation_peptide|ENST00000215743|protein_coding|1/8|c.256T>C||||||,C|sequence_feature|LOW|MMP11|ENSG00000099953|maturation_peptide:Activation_peptide|ENST00000215743|protein_coding|2/8|c.256T>C||||||,C|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000434318|nonsense_mediated_decay||n.-3T>C|||||1546|,C|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000493132|retained_intron||n.-1T>C|||||1607|,C|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000492464|retained_intron||n.-1T>C|||||1623|,C|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000488363|processed_transcript||n.-1T>C|||||1930|,C|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000480185|processed_transcript||n.-1T>C|||||2480|,C|downstream_gene_variant|MODIFIER|AP000349.1|ENSG00000267954|transcript|ENST00000598975|protein_coding||c.*747A>G|||||2946|,C|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron|3/8|n.898T>C||||||,C|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript|3/6|n.420T>C||||||,C|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript|2/4|n.282T>C||||||,C|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465730|retained_intron|2/2|n.281T>C||||||,C|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000428253|nonsense_mediated_decay|2/3|n.256T>C||||||,C|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000437086|nonsense_mediated_decay|2/8|n.256T>C||||||,C|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000460352|processed_transcript|2/5|n.316T>C|||||| 22 24121539 . C T . . ANN=T|missense_variant|MODERATE|MMP11|ENSG00000099953|transcript|ENST00000215743|protein_coding|2/8|c.274C>T|p.Arg92Cys|326/2291|274/1467|92/488||,T|sequence_feature|LOW|MMP11|ENSG00000099953|maturation_peptide:Activation_peptide|ENST00000215743|protein_coding|1/8|c.274C>T||||||,T|sequence_feature|LOW|MMP11|ENSG00000099953|maturation_peptide:Activation_peptide|ENST00000215743|protein_coding|2/8|c.274C>T||||||,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000434318|nonsense_mediated_decay||n.-3C>T|||||1528|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000493132|retained_intron||n.-1C>T|||||1589|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000492464|retained_intron||n.-1C>T|||||1605|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000488363|processed_transcript||n.-1C>T|||||1912|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000480185|processed_transcript||n.-1C>T|||||2462|,T|downstream_gene_variant|MODIFIER|AP000349.1|ENSG00000267954|transcript|ENST00000598975|protein_coding||c.*747G>A|||||2928|,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron|3/8|n.916C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript|3/6|n.438C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript|2/4|n.300C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465730|retained_intron|2/2|n.299C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000428253|nonsense_mediated_decay|2/3|n.274C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000437086|nonsense_mediated_decay|2/8|n.274C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000460352|processed_transcript|2/5|n.334C>T|||||| 22 24121571 . C T . . ANN=T|synonymous_variant|LOW|MMP11|ENSG00000099953|transcript|ENST00000215743|protein_coding|2/8|c.306C>T|p.Gly102Gly|358/2291|306/1467|102/488||,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000434318|nonsense_mediated_decay||n.-3C>T|||||1496|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000493132|retained_intron||n.-1C>T|||||1557|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000492464|retained_intron||n.-1C>T|||||1573|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000488363|processed_transcript||n.-1C>T|||||1880|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000480185|processed_transcript||n.-1C>T|||||2430|,T|downstream_gene_variant|MODIFIER|AP000349.1|ENSG00000267954|transcript|ENST00000598975|protein_coding||c.*747G>A|||||2896|,T|intron_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000437086|nonsense_mediated_decay|2/7|n.290+16C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron|3/8|n.948C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript|3/6|n.470C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript|2/4|n.332C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465730|retained_intron|2/2|n.331C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000428253|nonsense_mediated_decay|2/3|n.306C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000460352|processed_transcript|2/5|n.366C>T|||||| 22 24121626 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000428253|nonsense_mediated_decay|2/3|n.*19C>T|||||19|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000434318|nonsense_mediated_decay||n.-3C>T|||||1441|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000493132|retained_intron||n.-1C>T|||||1502|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000492464|retained_intron||n.-1C>T|||||1518|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000488363|processed_transcript||n.-1C>T|||||1825|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000480185|processed_transcript||n.-1C>T|||||2375|,T|downstream_gene_variant|MODIFIER|AP000349.1|ENSG00000267954|transcript|ENST00000598975|protein_coding||c.*747G>A|||||2841|,T|intron_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000215743|protein_coding|2/7|c.338+23C>T||||||,T|intron_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript|3/5|n.502+23C>T||||||,T|intron_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript|2/3|n.364+23C>T||||||,T|intron_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000437086|nonsense_mediated_decay|2/7|n.290+71C>T||||||,T|intron_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000460352|processed_transcript|2/4|n.398+23C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron|3/8|n.1003C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465730|retained_intron|2/2|n.386C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000428253|nonsense_mediated_decay|2/3|n.*19C>T|||||| 22 24122499 . G A . . ANN=A|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000434318|nonsense_mediated_decay||n.-3G>A|||||568|,A|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000493132|retained_intron||n.-1G>A|||||629|,A|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000492464|retained_intron||n.-1G>A|||||645|,A|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000488363|processed_transcript||n.-1G>A|||||952|,A|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000480185|processed_transcript||n.-1G>A|||||1502|,A|downstream_gene_variant|MODIFIER|AP000349.1|ENSG00000267954|transcript|ENST00000598975|protein_coding||c.*747C>T|||||1968|,A|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465730|retained_intron||n.*644G>A|||||615|,A|intron_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000215743|protein_coding|2/7|c.339-47G>A||||||,A|intron_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript|3/5|n.503-47G>A||||||,A|intron_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript|2/3|n.365-47G>A||||||,A|intron_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000428253|nonsense_mediated_decay|2/2|n.*45-47G>A||||||,A|intron_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000437086|nonsense_mediated_decay|2/7|n.291-47G>A||||||,A|intron_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000460352|processed_transcript|2/4|n.399-47G>A||||||,A|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron|3/8|n.1876G>A|||||| 22 24122582 . G C . . ANN=C|missense_variant|MODERATE|MMP11|ENSG00000099953|transcript|ENST00000215743|protein_coding|3/8|c.375G>C|p.Gln125His|427/2291|375/1467|125/488||,C|3_prime_UTR_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000428253|nonsense_mediated_decay|3/3|n.*81G>C|||||975|,C|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000434318|nonsense_mediated_decay||n.-3G>C|||||485|,C|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000493132|retained_intron||n.-1G>C|||||546|,C|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000492464|retained_intron||n.-1G>C|||||562|,C|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000488363|processed_transcript||n.-1G>C|||||869|,C|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000480185|processed_transcript||n.-1G>C|||||1419|,C|downstream_gene_variant|MODIFIER|AP000349.1|ENSG00000267954|transcript|ENST00000598975|protein_coding||c.*747C>G|||||1885|,C|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465730|retained_intron||n.*644G>C|||||698|,C|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron|3/8|n.1959G>C||||||,C|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript|4/6|n.539G>C||||||,C|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript|3/4|n.401G>C||||||,C|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000428253|nonsense_mediated_decay|3/3|n.*81G>C||||||,C|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000437086|nonsense_mediated_decay|3/8|n.327G>C||||||,C|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000460352|processed_transcript|3/5|n.435G>C|||||| 22 24122653 . A C . . ANN=C|missense_variant|MODERATE|MMP11|ENSG00000099953|transcript|ENST00000215743|protein_coding|3/8|c.446A>C|p.His149Pro|498/2291|446/1467|149/488||,C|3_prime_UTR_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000428253|nonsense_mediated_decay|3/3|n.*152A>C|||||1046|,C|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000434318|nonsense_mediated_decay||n.-3A>C|||||414|,C|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000493132|retained_intron||n.-1A>C|||||475|,C|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000492464|retained_intron||n.-1A>C|||||491|,C|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000488363|processed_transcript||n.-1A>C|||||798|,C|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000480185|processed_transcript||n.-1A>C|||||1348|,C|downstream_gene_variant|MODIFIER|AP000349.1|ENSG00000267954|transcript|ENST00000598975|protein_coding||c.*747T>G|||||1814|,C|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465730|retained_intron||n.*644A>C|||||769|,C|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron|3/8|n.2030A>C||||||,C|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript|4/6|n.610A>C||||||,C|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript|3/4|n.472A>C||||||,C|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000428253|nonsense_mediated_decay|3/3|n.*152A>C||||||,C|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000437086|nonsense_mediated_decay|3/8|n.398A>C||||||,C|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000460352|processed_transcript|3/5|n.506A>C|||||| 22 24122750 . C T . . ANN=T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000434318|nonsense_mediated_decay||n.-3C>T|||||317|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000493132|retained_intron||n.-1C>T|||||378|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000492464|retained_intron||n.-1C>T|||||394|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000488363|processed_transcript||n.-1C>T|||||701|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000480185|processed_transcript||n.-1C>T|||||1251|,T|downstream_gene_variant|MODIFIER|AP000349.1|ENSG00000267954|transcript|ENST00000598975|protein_coding||c.*747G>A|||||1717|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465730|retained_intron||n.*644C>T|||||866|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000428253|nonsense_mediated_decay||n.*367C>T|||||79|,T|intron_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000215743|protein_coding|3/7|c.483-19C>T||||||,T|intron_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron|3/7|n.2067-19C>T||||||,T|intron_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript|4/5|n.647-19C>T||||||,T|intron_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript|3/3|n.509-19C>T||||||,T|intron_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000437086|nonsense_mediated_decay|3/7|n.435-19C>T||||||,T|intron_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000460352|processed_transcript|3/4|n.543-19C>T|||||| 22 24122877 . G A . . ANN=A|synonymous_variant|LOW|MMP11|ENSG00000099953|transcript|ENST00000215743|protein_coding|4/8|c.591G>A|p.Glu197Glu|643/2291|591/1467|197/488||,A|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000434318|nonsense_mediated_decay||n.-3G>A|||||190|,A|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000493132|retained_intron||n.-1G>A|||||251|,A|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000492464|retained_intron||n.-1G>A|||||267|,A|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000488363|processed_transcript||n.-1G>A|||||574|,A|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000480185|processed_transcript||n.-1G>A|||||1124|,A|downstream_gene_variant|MODIFIER|AP000349.1|ENSG00000267954|transcript|ENST00000598975|protein_coding||c.*747C>T|||||1590|,A|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript||n.*593G>A|||||24|,A|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465730|retained_intron||n.*644G>A|||||993|,A|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000428253|nonsense_mediated_decay||n.*367G>A|||||206|,A|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron|4/8|n.2175G>A||||||,A|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript|5/6|n.755G>A||||||,A|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000437086|nonsense_mediated_decay|4/8|n.543G>A||||||,A|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000460352|processed_transcript|4/5|n.651G>A|||||| 22 24123011 . G A . . ANN=A|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000434318|nonsense_mediated_decay||n.-3G>A|||||56|,A|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000493132|retained_intron||n.-1G>A|||||117|,A|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000492464|retained_intron||n.-1G>A|||||133|,A|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000488363|processed_transcript||n.-1G>A|||||440|,A|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000480185|processed_transcript||n.-1G>A|||||990|,A|downstream_gene_variant|MODIFIER|AP000349.1|ENSG00000267954|transcript|ENST00000598975|protein_coding||c.*747C>T|||||1456|,A|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript||n.*593G>A|||||158|,A|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465730|retained_intron||n.*644G>A|||||1127|,A|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000428253|nonsense_mediated_decay||n.*367G>A|||||340|,A|intron_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000215743|protein_coding|4/7|c.617-35G>A||||||,A|intron_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron|4/7|n.2201-35G>A||||||,A|intron_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript|5/5|n.781-35G>A||||||,A|intron_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000437086|nonsense_mediated_decay|4/7|n.569-35G>A||||||,A|intron_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000460352|processed_transcript|4/4|n.677-35G>A|||||| 22 24123185 . C T . . ANN=T|synonymous_variant|LOW|MMP11|ENSG00000099953|transcript|ENST00000215743|protein_coding|5/8|c.756C>T|p.Gly252Gly|808/2291|756/1467|252/488||,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000488363|processed_transcript||n.-1C>T|||||266|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000480185|processed_transcript||n.-1C>T|||||816|,T|downstream_gene_variant|MODIFIER|AP000349.1|ENSG00000267954|transcript|ENST00000598975|protein_coding||c.*747G>A|||||1282|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript||n.*593C>T|||||332|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465730|retained_intron||n.*644C>T|||||1301|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000428253|nonsense_mediated_decay||n.*367C>T|||||514|,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron|5/8|n.2340C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript|6/6|n.920C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000437086|nonsense_mediated_decay|5/8|n.708C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000460352|processed_transcript|5/5|n.816C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000434318|nonsense_mediated_decay|1/4|n.117C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000493132|retained_intron|1/2|n.58C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000492464|retained_intron|1/2|n.42C>T|||||| 22 24123376 . C A . . ANN=A|splice_region_variant&intron_variant|LOW|MMP11|ENSG00000099953|transcript|ENST00000215743|protein_coding|5/7|c.859-4C>A||||||,A|splice_region_variant&intron_variant|LOW|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron|5/7|n.2443-4C>A||||||,A|splice_region_variant&intron_variant|LOW|MMP11|ENSG00000099953|transcript|ENST00000437086|nonsense_mediated_decay|5/7|n.811-4C>A||||||,A|splice_region_variant&intron_variant|LOW|MMP11|ENSG00000099953|transcript|ENST00000434318|nonsense_mediated_decay|1/3|n.220-4C>A||||||,A|splice_region_variant&intron_variant|LOW|MMP11|ENSG00000099953|transcript|ENST00000492464|retained_intron|1/1|n.145-4C>A||||||,A|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000488363|processed_transcript||n.-1C>A|||||75|,A|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000480185|processed_transcript||n.-1C>A|||||625|,A|downstream_gene_variant|MODIFIER|AP000349.1|ENSG00000267954|transcript|ENST00000598975|protein_coding||c.*747G>T|||||1091|,A|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript||n.*929C>A|||||182|,A|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript||n.*593C>A|||||523|,A|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465730|retained_intron||n.*644C>A|||||1492|,A|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000428253|nonsense_mediated_decay||n.*367C>A|||||705|,A|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000460352|processed_transcript||n.*918C>A|||||89|,A|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000493132|retained_intron|1/2|n.249C>A|||||| 22 24123521 . C T . . ANN=T|missense_variant|MODERATE|MMP11|ENSG00000099953|transcript|ENST00000215743|protein_coding|6/8|c.1000C>T|p.Arg334Cys|1052/2291|1000/1467|334/488||,T|sequence_feature|LOW|MMP11|ENSG00000099953|repeat:Hemopexin_1|ENST00000215743|protein_coding|6/8|c.1000C>T||||||,T|sequence_feature|LOW|MMP11|ENSG00000099953|disulfide_bond|ENST00000215743|protein_coding|7/8|c.1000C>T||||||,T|sequence_feature|LOW|MMP11|ENSG00000099953|disulfide_bond|ENST00000215743|protein_coding|8/8|c.1000C>T||||||,T|sequence_feature|LOW|MMP11|ENSG00000099953|disulfide_bond|ENST00000215743|protein_coding|6/8|c.1000C>T||||||,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000480185|processed_transcript||n.-1C>T|||||480|,T|downstream_gene_variant|MODIFIER|AP000349.1|ENSG00000267954|transcript|ENST00000598975|protein_coding||c.*747G>A|||||946|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript||n.*929C>T|||||327|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript||n.*593C>T|||||668|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465730|retained_intron||n.*644C>T|||||1637|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000428253|nonsense_mediated_decay||n.*367C>T|||||850|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000460352|processed_transcript||n.*918C>T|||||234|,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron|6/8|n.2584C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000437086|nonsense_mediated_decay|6/8|n.952C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000434318|nonsense_mediated_decay|2/4|n.361C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000493132|retained_intron|1/2|n.394C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000492464|retained_intron|2/2|n.286C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000488363|processed_transcript|1/2|n.71C>T|||||| 22 24123563 . G C . . ANN=C|missense_variant|MODERATE|MMP11|ENSG00000099953|transcript|ENST00000215743|protein_coding|6/8|c.1042G>C|p.Glu348Gln|1094/2291|1042/1467|348/488||,C|sequence_feature|LOW|MMP11|ENSG00000099953|disulfide_bond|ENST00000215743|protein_coding|7/8|c.1042G>C||||||,C|sequence_feature|LOW|MMP11|ENSG00000099953|disulfide_bond|ENST00000215743|protein_coding|8/8|c.1042G>C||||||,C|sequence_feature|LOW|MMP11|ENSG00000099953|disulfide_bond|ENST00000215743|protein_coding|6/8|c.1042G>C||||||,C|sequence_feature|LOW|MMP11|ENSG00000099953|repeat:Hemopexin_2|ENST00000215743|protein_coding|7/8|c.1042G>C||||||,C|sequence_feature|LOW|MMP11|ENSG00000099953|repeat:Hemopexin_2|ENST00000215743|protein_coding|6/8|c.1042G>C||||||,C|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000480185|processed_transcript||n.-1G>C|||||438|,C|downstream_gene_variant|MODIFIER|AP000349.1|ENSG00000267954|transcript|ENST00000598975|protein_coding||c.*747C>G|||||904|,C|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript||n.*929G>C|||||369|,C|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript||n.*593G>C|||||710|,C|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465730|retained_intron||n.*644G>C|||||1679|,C|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000428253|nonsense_mediated_decay||n.*367G>C|||||892|,C|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000460352|processed_transcript||n.*918G>C|||||276|,C|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron|6/8|n.2626G>C||||||,C|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000437086|nonsense_mediated_decay|6/8|n.994G>C||||||,C|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000434318|nonsense_mediated_decay|2/4|n.403G>C||||||,C|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000493132|retained_intron|1/2|n.436G>C||||||,C|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000492464|retained_intron|2/2|n.328G>C||||||,C|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000488363|processed_transcript|1/2|n.113G>C|||||| 22 24123621 . C G . . ANN=G|sequence_feature|LOW|MMP11|ENSG00000099953|disulfide_bond|ENST00000215743|protein_coding|7/8|c.1075+25C>G||||||,G|sequence_feature|LOW|MMP11|ENSG00000099953|disulfide_bond|ENST00000215743|protein_coding|8/8|c.1075+25C>G||||||,G|sequence_feature|LOW|MMP11|ENSG00000099953|disulfide_bond|ENST00000215743|protein_coding|6/8|c.1075+25C>G||||||,G|sequence_feature|LOW|MMP11|ENSG00000099953|repeat:Hemopexin_2|ENST00000215743|protein_coding|7/8|c.1075+25C>G||||||,G|sequence_feature|LOW|MMP11|ENSG00000099953|repeat:Hemopexin_2|ENST00000215743|protein_coding|6/8|c.1075+25C>G||||||,G|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000480185|processed_transcript||n.-1C>G|||||380|,G|downstream_gene_variant|MODIFIER|AP000349.1|ENSG00000267954|transcript|ENST00000598975|protein_coding||c.*747G>C|||||846|,G|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript||n.*929C>G|||||427|,G|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript||n.*593C>G|||||768|,G|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465730|retained_intron||n.*644C>G|||||1737|,G|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000428253|nonsense_mediated_decay||n.*367C>G|||||950|,G|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000460352|processed_transcript||n.*918C>G|||||334|,G|intron_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000215743|protein_coding|6/7|c.1075+25C>G||||||,G|intron_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron|6/7|n.2659+25C>G||||||,G|intron_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000437086|nonsense_mediated_decay|6/7|n.1027+25C>G||||||,G|intron_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000434318|nonsense_mediated_decay|2/3|n.436+25C>G||||||,G|intron_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000493132|retained_intron|1/1|n.469+25C>G||||||,G|intron_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000488363|processed_transcript|1/1|n.146+25C>G||||||,G|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000492464|retained_intron|2/2|n.386C>G|||||| 22 24124459 . C T . . ANN=T|synonymous_variant|LOW|MMP11|ENSG00000099953|transcript|ENST00000215743|protein_coding|7/8|c.1122C>T|p.Pro374Pro|1174/2291|1122/1467|374/488||,T|sequence_feature|LOW|MMP11|ENSG00000099953|disulfide_bond|ENST00000215743|protein_coding|7/8|c.1122C>T||||||,T|sequence_feature|LOW|MMP11|ENSG00000099953|disulfide_bond|ENST00000215743|protein_coding|8/8|c.1122C>T||||||,T|sequence_feature|LOW|MMP11|ENSG00000099953|disulfide_bond|ENST00000215743|protein_coding|6/8|c.1122C>T||||||,T|sequence_feature|LOW|MMP11|ENSG00000099953|repeat:Hemopexin_2|ENST00000215743|protein_coding|7/8|c.1122C>T||||||,T|sequence_feature|LOW|MMP11|ENSG00000099953|repeat:Hemopexin_2|ENST00000215743|protein_coding|6/8|c.1122C>T||||||,T|3_prime_UTR_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000434318|nonsense_mediated_decay|3/4|n.*411C>T|||||411|,T|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding||c.-208C>T|||||4691|,T|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000417137|protein_coding||c.-208C>T|||||4691|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding||c.-197C>T|||||4702|,T|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding||c.-177C>T|||||4722|,T|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding||c.-160C>T|||||4739|,T|downstream_gene_variant|MODIFIER|AP000349.1|ENSG00000267954|transcript|ENST00000598975|protein_coding||c.*747G>A|||||8|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript||n.*929C>T|||||1265|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript||n.*593C>T|||||1606|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465730|retained_intron||n.*644C>T|||||2575|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000428253|nonsense_mediated_decay||n.*367C>T|||||1788|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000460352|processed_transcript||n.*918C>T|||||1172|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000492464|retained_intron||n.*703C>T|||||521|,T|intron_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000437086|nonsense_mediated_decay|6/7|n.1028-96C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron|7/8|n.2706C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000434318|nonsense_mediated_decay|3/4|n.*411C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000493132|retained_intron|2/2|n.516C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000488363|processed_transcript|2/2|n.193C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000480185|processed_transcript|2/2|n.159C>T|||||| 22 24124468 . C T . . ANN=T|splice_region_variant&stop_retained_variant|LOW|AP000349.1|ENSG00000267954|transcript|ENST00000598975|protein_coding|3/3|c.746G>A|p.Ter249Ter|746/747|746/747|249/248||,T|synonymous_variant|LOW|MMP11|ENSG00000099953|transcript|ENST00000215743|protein_coding|7/8|c.1131C>T|p.Leu377Leu|1183/2291|1131/1467|377/488||,T|sequence_feature|LOW|MMP11|ENSG00000099953|disulfide_bond|ENST00000215743|protein_coding|7/8|c.1131C>T||||||,T|sequence_feature|LOW|MMP11|ENSG00000099953|disulfide_bond|ENST00000215743|protein_coding|8/8|c.1131C>T||||||,T|sequence_feature|LOW|MMP11|ENSG00000099953|disulfide_bond|ENST00000215743|protein_coding|6/8|c.1131C>T||||||,T|sequence_feature|LOW|MMP11|ENSG00000099953|repeat:Hemopexin_2|ENST00000215743|protein_coding|7/8|c.1131C>T||||||,T|sequence_feature|LOW|MMP11|ENSG00000099953|repeat:Hemopexin_2|ENST00000215743|protein_coding|6/8|c.1131C>T||||||,T|3_prime_UTR_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000434318|nonsense_mediated_decay|3/4|n.*420C>T|||||420|,T|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding||c.-208C>T|||||4682|,T|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000417137|protein_coding||c.-208C>T|||||4682|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding||c.-197C>T|||||4693|,T|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding||c.-177C>T|||||4713|,T|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding||c.-160C>T|||||4730|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript||n.*929C>T|||||1274|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript||n.*593C>T|||||1615|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465730|retained_intron||n.*644C>T|||||2584|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000428253|nonsense_mediated_decay||n.*367C>T|||||1797|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000460352|processed_transcript||n.*918C>T|||||1181|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000492464|retained_intron||n.*703C>T|||||530|,T|intron_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000437086|nonsense_mediated_decay|6/7|n.1028-87C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron|7/8|n.2715C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000434318|nonsense_mediated_decay|3/4|n.*420C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000493132|retained_intron|2/2|n.525C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000488363|processed_transcript|2/2|n.202C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000480185|processed_transcript|2/2|n.168C>T|||||| 22 24124471 . C A . . ANN=A|missense_variant|MODERATE|AP000349.1|ENSG00000267954|transcript|ENST00000598975|protein_coding|3/3|c.743G>T|p.Arg248Leu|743/747|743/747|248/248||,A|synonymous_variant|LOW|MMP11|ENSG00000099953|transcript|ENST00000215743|protein_coding|7/8|c.1134C>A|p.Thr378Thr|1186/2291|1134/1467|378/488||,A|sequence_feature|LOW|MMP11|ENSG00000099953|disulfide_bond|ENST00000215743|protein_coding|7/8|c.1134C>A||||||,A|sequence_feature|LOW|MMP11|ENSG00000099953|disulfide_bond|ENST00000215743|protein_coding|8/8|c.1134C>A||||||,A|sequence_feature|LOW|MMP11|ENSG00000099953|disulfide_bond|ENST00000215743|protein_coding|6/8|c.1134C>A||||||,A|sequence_feature|LOW|MMP11|ENSG00000099953|repeat:Hemopexin_2|ENST00000215743|protein_coding|7/8|c.1134C>A||||||,A|sequence_feature|LOW|MMP11|ENSG00000099953|repeat:Hemopexin_2|ENST00000215743|protein_coding|6/8|c.1134C>A||||||,A|3_prime_UTR_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000434318|nonsense_mediated_decay|3/4|n.*423C>A|||||423|,A|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding||c.-208C>A|||||4679|,A|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000417137|protein_coding||c.-208C>A|||||4679|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding||c.-197C>A|||||4690|,A|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding||c.-177C>A|||||4710|,A|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding||c.-160C>A|||||4727|,A|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript||n.*929C>A|||||1277|,A|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript||n.*593C>A|||||1618|,A|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465730|retained_intron||n.*644C>A|||||2587|,A|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000428253|nonsense_mediated_decay||n.*367C>A|||||1800|,A|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000460352|processed_transcript||n.*918C>A|||||1184|,A|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000492464|retained_intron||n.*703C>A|||||533|,A|intron_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000437086|nonsense_mediated_decay|6/7|n.1028-84C>A||||||,A|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron|7/8|n.2718C>A||||||,A|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000434318|nonsense_mediated_decay|3/4|n.*423C>A||||||,A|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000493132|retained_intron|2/2|n.528C>A||||||,A|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000488363|processed_transcript|2/2|n.205C>A||||||,A|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000480185|processed_transcript|2/2|n.171C>A|||||| 22 24124492 . C T . . ANN=T|missense_variant|MODERATE|AP000349.1|ENSG00000267954|transcript|ENST00000598975|protein_coding|3/3|c.722G>A|p.Gly241Glu|722/747|722/747|241/248||,T|synonymous_variant|LOW|MMP11|ENSG00000099953|transcript|ENST00000215743|protein_coding|7/8|c.1155C>T|p.Phe385Phe|1207/2291|1155/1467|385/488||,T|sequence_feature|LOW|MMP11|ENSG00000099953|disulfide_bond|ENST00000215743|protein_coding|7/8|c.1155C>T||||||,T|sequence_feature|LOW|MMP11|ENSG00000099953|disulfide_bond|ENST00000215743|protein_coding|8/8|c.1155C>T||||||,T|sequence_feature|LOW|MMP11|ENSG00000099953|disulfide_bond|ENST00000215743|protein_coding|6/8|c.1155C>T||||||,T|sequence_feature|LOW|MMP11|ENSG00000099953|repeat:Hemopexin_3|ENST00000215743|protein_coding|7/8|c.1155C>T||||||,T|3_prime_UTR_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000434318|nonsense_mediated_decay|3/4|n.*444C>T|||||444|,T|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding||c.-208C>T|||||4658|,T|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000417137|protein_coding||c.-208C>T|||||4658|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding||c.-197C>T|||||4669|,T|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding||c.-177C>T|||||4689|,T|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding||c.-160C>T|||||4706|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript||n.*929C>T|||||1298|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript||n.*593C>T|||||1639|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465730|retained_intron||n.*644C>T|||||2608|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000428253|nonsense_mediated_decay||n.*367C>T|||||1821|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000460352|processed_transcript||n.*918C>T|||||1205|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000492464|retained_intron||n.*703C>T|||||554|,T|intron_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000437086|nonsense_mediated_decay|6/7|n.1028-63C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron|7/8|n.2739C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000434318|nonsense_mediated_decay|3/4|n.*444C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000493132|retained_intron|2/2|n.549C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000488363|processed_transcript|2/2|n.226C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000480185|processed_transcript|2/2|n.192C>T|||||| 22 24125565 . G A . . ANN=A|sequence_feature|LOW|MMP11|ENSG00000099953|disulfide_bond|ENST00000215743|protein_coding|7/8|c.1334-33G>A||||||,A|sequence_feature|LOW|MMP11|ENSG00000099953|disulfide_bond|ENST00000215743|protein_coding|8/8|c.1334-33G>A||||||,A|sequence_feature|LOW|MMP11|ENSG00000099953|disulfide_bond|ENST00000215743|protein_coding|6/8|c.1334-33G>A||||||,A|sequence_feature|LOW|MMP11|ENSG00000099953|repeat:Hemopexin_4|ENST00000215743|protein_coding|7/8|c.1334-33G>A||||||,A|sequence_feature|LOW|MMP11|ENSG00000099953|repeat:Hemopexin_4|ENST00000215743|protein_coding|8/8|c.1334-33G>A||||||,A|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding||c.-208G>A|||||3585|,A|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000417137|protein_coding||c.-208G>A|||||3585|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding||c.-197G>A|||||3596|,A|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding||c.-177G>A|||||3616|,A|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding||c.-160G>A|||||3633|,A|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript||n.*929G>A|||||2371|,A|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript||n.*593G>A|||||2712|,A|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465730|retained_intron||n.*644G>A|||||3681|,A|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000428253|nonsense_mediated_decay||n.*367G>A|||||2894|,A|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000460352|processed_transcript||n.*918G>A|||||2278|,A|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000493132|retained_intron||n.*559G>A|||||1063|,A|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000492464|retained_intron||n.*703G>A|||||1627|,A|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000488363|processed_transcript||n.*549G>A|||||750|,A|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000480185|processed_transcript||n.*370G>A|||||895|,A|intron_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000215743|protein_coding|7/7|c.1334-33G>A||||||,A|intron_variant|MODIFIER|AP000349.1|ENSG00000267954|transcript|ENST00000598975|protein_coding|1/2|c.548+33C>T||||||,A|intron_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron|7/7|n.2918-33G>A||||||,A|intron_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000437086|nonsense_mediated_decay|7/7|n.*79-33G>A||||||,A|intron_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000434318|nonsense_mediated_decay|3/3|n.*623-33G>A|||||| 22 24125617 . C T . . ANN=T|missense_variant|MODERATE|AP000349.1|ENSG00000267954|transcript|ENST00000598975|protein_coding|1/3|c.529G>A|p.Ala177Thr|529/747|529/747|177/248||,T|synonymous_variant|LOW|MMP11|ENSG00000099953|transcript|ENST00000215743|protein_coding|8/8|c.1353C>T|p.Arg451Arg|1405/2291|1353/1467|451/488||,T|sequence_feature|LOW|MMP11|ENSG00000099953|disulfide_bond|ENST00000215743|protein_coding|7/8|c.1353C>T||||||,T|sequence_feature|LOW|MMP11|ENSG00000099953|disulfide_bond|ENST00000215743|protein_coding|8/8|c.1353C>T||||||,T|sequence_feature|LOW|MMP11|ENSG00000099953|disulfide_bond|ENST00000215743|protein_coding|6/8|c.1353C>T||||||,T|sequence_feature|LOW|MMP11|ENSG00000099953|repeat:Hemopexin_4|ENST00000215743|protein_coding|7/8|c.1353C>T||||||,T|sequence_feature|LOW|MMP11|ENSG00000099953|repeat:Hemopexin_4|ENST00000215743|protein_coding|8/8|c.1353C>T||||||,T|3_prime_UTR_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000437086|nonsense_mediated_decay|8/8|n.*98C>T|||||1025|,T|3_prime_UTR_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000434318|nonsense_mediated_decay|4/4|n.*642C>T|||||1569|,T|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding||c.-208C>T|||||3533|,T|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000417137|protein_coding||c.-208C>T|||||3533|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding||c.-197C>T|||||3544|,T|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding||c.-177C>T|||||3564|,T|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding||c.-160C>T|||||3581|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript||n.*929C>T|||||2423|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript||n.*593C>T|||||2764|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465730|retained_intron||n.*644C>T|||||3733|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000428253|nonsense_mediated_decay||n.*367C>T|||||2946|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000460352|processed_transcript||n.*918C>T|||||2330|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000493132|retained_intron||n.*559C>T|||||1115|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000492464|retained_intron||n.*703C>T|||||1679|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000488363|processed_transcript||n.*549C>T|||||802|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000480185|processed_transcript||n.*370C>T|||||947|,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron|8/8|n.2937C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000437086|nonsense_mediated_decay|8/8|n.*98C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000434318|nonsense_mediated_decay|4/4|n.*642C>T|||||| 22 24125689 . T C . . ANN=C|missense_variant|MODERATE|AP000349.1|ENSG00000267954|transcript|ENST00000598975|protein_coding|1/3|c.457A>G|p.Arg153Gly|457/747|457/747|153/248||,C|synonymous_variant|LOW|MMP11|ENSG00000099953|transcript|ENST00000215743|protein_coding|8/8|c.1425T>C|p.Pro475Pro|1477/2291|1425/1467|475/488||,C|sequence_feature|LOW|MMP11|ENSG00000099953|disulfide_bond|ENST00000215743|protein_coding|7/8|c.1425T>C||||||,C|sequence_feature|LOW|MMP11|ENSG00000099953|disulfide_bond|ENST00000215743|protein_coding|8/8|c.1425T>C||||||,C|sequence_feature|LOW|MMP11|ENSG00000099953|disulfide_bond|ENST00000215743|protein_coding|6/8|c.1425T>C||||||,C|sequence_feature|LOW|MMP11|ENSG00000099953|repeat:Hemopexin_4|ENST00000215743|protein_coding|7/8|c.1425T>C||||||,C|sequence_feature|LOW|MMP11|ENSG00000099953|repeat:Hemopexin_4|ENST00000215743|protein_coding|8/8|c.1425T>C||||||,C|3_prime_UTR_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000437086|nonsense_mediated_decay|8/8|n.*170T>C|||||1097|,C|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding||c.-208T>C|||||3461|,C|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000417137|protein_coding||c.-208T>C|||||3461|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding||c.-197T>C|||||3472|,C|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding||c.-177T>C|||||3492|,C|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding||c.-160T>C|||||3509|,C|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript||n.*929T>C|||||2495|,C|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript||n.*593T>C|||||2836|,C|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465730|retained_intron||n.*644T>C|||||3805|,C|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000428253|nonsense_mediated_decay||n.*367T>C|||||3018|,C|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000460352|processed_transcript||n.*918T>C|||||2402|,C|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000434318|nonsense_mediated_decay||n.*512T>C|||||61|,C|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000493132|retained_intron||n.*559T>C|||||1187|,C|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000492464|retained_intron||n.*703T>C|||||1751|,C|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000488363|processed_transcript||n.*549T>C|||||874|,C|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000480185|processed_transcript||n.*370T>C|||||1019|,C|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron|8/8|n.3009T>C||||||,C|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000437086|nonsense_mediated_decay|8/8|n.*170T>C|||||| 22 24129326 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding|1/9|c.-31C>T|||||31|,T|5_prime_UTR_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000417137|protein_coding|1/5|c.-31C>T|||||31|WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding|1/9|c.-31C>T|||||31|,T|5_prime_UTR_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding|1/9|c.-31C>T|||||31|,T|5_prime_UTR_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding|1/8|c.-31C>T|||||31|,T|upstream_gene_variant|MODIFIER|AP000349.1|ENSG00000267954|transcript|ENST00000598975|protein_coding||c.-1G>A|||||3181|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000215743|protein_coding||c.*1519C>T|||||2823|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron||n.*3823C>T|||||2823|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000437086|nonsense_mediated_decay||n.*1087C>T|||||2823|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000434318|nonsense_mediated_decay||n.*512C>T|||||3698|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000493132|retained_intron||n.*559C>T|||||4824|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000488363|processed_transcript||n.*549C>T|||||4511|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000480185|processed_transcript||n.*370C>T|||||4656| 22 24129493 . G C . . ANN=C|upstream_gene_variant|MODIFIER|AP000349.1|ENSG00000267954|transcript|ENST00000598975|protein_coding||c.-1C>G|||||3348|,C|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000215743|protein_coding||c.*1519G>C|||||2990|,C|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron||n.*3823G>C|||||2990|,C|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000437086|nonsense_mediated_decay||n.*1087G>C|||||2990|,C|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000434318|nonsense_mediated_decay||n.*512G>C|||||3865|,C|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000493132|retained_intron||n.*559G>C|||||4991|,C|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000488363|processed_transcript||n.*549G>C|||||4678|,C|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000480185|processed_transcript||n.*370G>C|||||4823|,C|intron_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding|1/8|c.93+44G>C||||||,C|intron_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000417137|protein_coding|1/4|c.93+44G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding|1/8|c.93+44G>C||||||,C|intron_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding|1/8|c.93+44G>C||||||,C|intron_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding|1/7|c.93+44G>C|||||| 22 24133903 . G A . . ANN=A|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000491967|processed_transcript||n.-1G>A|||||1885|,A|intron_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding|1/8|c.94-40G>A||||||,A|intron_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000417137|protein_coding|1/4|c.94-40G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding|1/8|c.94-40G>A||||||,A|intron_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding|1/8|c.94-40G>A||||||,A|intron_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding|1/7|c.94-40G>A|||||| 22 24135703 . A T . . ANN=T|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000491967|processed_transcript||n.-1A>T|||||85|,T|intron_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding|2/8|c.206-43A>T||||||,T|intron_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000417137|protein_coding|2/4|c.233-43A>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding|2/8|c.233-43A>T||||||,T|intron_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding|2/8|c.206-43A>T||||||,T|intron_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding|2/7|c.233-43A>T|||||| 22 24135722 . C G . . ANN=G|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000491967|processed_transcript||n.-1C>G|||||66|,G|intron_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding|2/8|c.206-24C>G||||||,G|intron_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000417137|protein_coding|2/4|c.233-24C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding|2/8|c.233-24C>G||||||,G|intron_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding|2/8|c.206-24C>G||||||,G|intron_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding|2/7|c.233-24C>G|||||| 22 24135750 . C T . . ANN=T|synonymous_variant|LOW|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding|3/9|c.210C>T|p.His70His|417/1728|210/1185|70/394||,T|synonymous_variant|LOW|SMARCB1|ENSG00000099956|transcript|ENST00000417137|protein_coding|3/5|c.237C>T|p.His79His|444/889|237/682|79/226||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding|3/9|c.237C>T|p.His79His|433/1690|237/1158|79/385||,T|synonymous_variant|LOW|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding|3/9|c.210C>T|p.His70His|386/1643|210/1131|70/376||,T|synonymous_variant|LOW|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding|3/8|c.237C>T|p.His79His|396/1182|237/1020|79/339||,T|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000491967|processed_transcript||n.-1C>T|||||38| 22 24135882 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding|3/8|c.335+7C>T||||||,T|splice_region_variant&intron_variant|LOW|SMARCB1|ENSG00000099956|transcript|ENST00000417137|protein_coding|3/4|c.362+7C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|splice_region_variant&intron_variant|LOW|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding|3/8|c.362+7C>T||||||,T|splice_region_variant&intron_variant|LOW|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding|3/8|c.335+7C>T||||||,T|splice_region_variant&intron_variant|LOW|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding|3/7|c.362+7C>T||||||,T|splice_region_variant&intron_variant|LOW|SMARCB1|ENSG00000099956|transcript|ENST00000491967|processed_transcript|1/1|n.88+7C>T||||||,T|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:DNA-binding|ENST00000263121|protein_coding|4/9|c.362+7C>T||||||,T|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:DNA-binding|ENST00000263121|protein_coding|3/9|c.362+7C>T||||||,T|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:DNA-binding|ENST00000263121|protein_coding|5/9|c.362+7C>T||||||,T|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:DNA-binding|ENST00000407422|protein_coding|4/9|c.335+7C>T||||||,T|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:DNA-binding|ENST00000407422|protein_coding|3/9|c.335+7C>T||||||,T|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:DNA-binding|ENST00000407422|protein_coding|5/9|c.335+7C>T|||||| 22 24135917 . G T . . ANN=T|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:DNA-binding|ENST00000263121|protein_coding|4/9|c.362+42G>T||||||,T|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:DNA-binding|ENST00000263121|protein_coding|3/9|c.362+42G>T||||||,T|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:DNA-binding|ENST00000263121|protein_coding|5/9|c.362+42G>T||||||,T|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:DNA-binding|ENST00000407422|protein_coding|4/9|c.335+42G>T||||||,T|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:DNA-binding|ENST00000407422|protein_coding|3/9|c.335+42G>T||||||,T|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:DNA-binding|ENST00000407422|protein_coding|5/9|c.335+42G>T||||||,T|intron_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding|3/8|c.335+42G>T||||||,T|intron_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000417137|protein_coding|3/4|c.362+42G>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding|3/8|c.362+42G>T||||||,T|intron_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding|3/8|c.335+42G>T||||||,T|intron_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding|3/7|c.362+42G>T||||||,T|intron_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000491967|processed_transcript|1/1|n.88+42G>T|||||| 22 24143185 . C G . . ANN=G|synonymous_variant|LOW|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding|4/9|c.390C>G|p.Ser130Ser|597/1728|390/1185|130/394||,G|synonymous_variant|LOW|SMARCB1|ENSG00000099956|transcript|ENST00000417137|protein_coding|4/5|c.417C>G|p.Ser139Ser|624/889|417/682|139/226||WARNING_TRANSCRIPT_INCOMPLETE,G|synonymous_variant|LOW|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding|4/9|c.417C>G|p.Ser139Ser|613/1690|417/1158|139/385||,G|synonymous_variant|LOW|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding|4/9|c.390C>G|p.Ser130Ser|566/1643|390/1131|130/376||,G|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:DNA-binding|ENST00000263121|protein_coding|4/9|c.417C>G||||||,G|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:DNA-binding|ENST00000263121|protein_coding|3/9|c.417C>G||||||,G|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:DNA-binding|ENST00000263121|protein_coding|5/9|c.417C>G||||||,G|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:DNA-binding|ENST00000407422|protein_coding|4/9|c.390C>G||||||,G|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:DNA-binding|ENST00000407422|protein_coding|3/9|c.390C>G||||||,G|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:DNA-binding|ENST00000407422|protein_coding|5/9|c.390C>G||||||,G|intron_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding|3/7|c.363-2297C>G||||||,G|non_coding_exon_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000491967|processed_transcript|2/2|n.143C>G|||||| 22 24143206 . A G . . ANN=G|synonymous_variant|LOW|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding|4/9|c.411A>G|p.Pro137Pro|618/1728|411/1185|137/394||,G|synonymous_variant|LOW|SMARCB1|ENSG00000099956|transcript|ENST00000417137|protein_coding|4/5|c.438A>G|p.Pro146Pro|645/889|438/682|146/226||WARNING_TRANSCRIPT_INCOMPLETE,G|synonymous_variant|LOW|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding|4/9|c.438A>G|p.Pro146Pro|634/1690|438/1158|146/385||,G|synonymous_variant|LOW|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding|4/9|c.411A>G|p.Pro137Pro|587/1643|411/1131|137/376||,G|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:DNA-binding|ENST00000263121|protein_coding|4/9|c.438A>G||||||,G|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:DNA-binding|ENST00000263121|protein_coding|3/9|c.438A>G||||||,G|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:DNA-binding|ENST00000263121|protein_coding|5/9|c.438A>G||||||,G|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:DNA-binding|ENST00000407422|protein_coding|4/9|c.411A>G||||||,G|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:DNA-binding|ENST00000407422|protein_coding|3/9|c.411A>G||||||,G|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:DNA-binding|ENST00000407422|protein_coding|5/9|c.411A>G||||||,G|intron_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding|3/7|c.363-2276A>G||||||,G|non_coding_exon_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000491967|processed_transcript|2/2|n.164A>G|||||| 22 24145459 . T G . . ANN=G|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:DNA-binding|ENST00000263121|protein_coding|4/9|c.501-23T>G||||||,G|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:DNA-binding|ENST00000263121|protein_coding|3/9|c.501-23T>G||||||,G|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:DNA-binding|ENST00000263121|protein_coding|5/9|c.501-23T>G||||||,G|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:DNA-binding|ENST00000407422|protein_coding|4/9|c.474-23T>G||||||,G|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:DNA-binding|ENST00000407422|protein_coding|3/9|c.474-23T>G||||||,G|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:DNA-binding|ENST00000407422|protein_coding|5/9|c.474-23T>G||||||,G|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000491967|processed_transcript||n.*605T>G|||||1812|,G|intron_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding|4/8|c.528-23T>G||||||,G|intron_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000417137|protein_coding|4/4|c.555-23T>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding|4/8|c.501-23T>G||||||,G|intron_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding|4/8|c.474-23T>G||||||,G|intron_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding|3/7|c.363-23T>G|||||| 22 24145622 . C T . . ANN=T|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:HIV-1_integrase-binding|ENST00000263121|protein_coding|6/9|c.628+13C>T||||||,T|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:HIV-1_integrase-binding|ENST00000263121|protein_coding|5/9|c.628+13C>T||||||,T|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:MYC-binding|ENST00000263121|protein_coding|6/9|c.628+13C>T||||||,T|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:MYC-binding|ENST00000263121|protein_coding|5/9|c.628+13C>T||||||,T|sequence_feature|LOW|SMARCB1|ENSG00000099956|repeat:1|ENST00000263121|protein_coding|6/9|c.628+13C>T||||||,T|sequence_feature|LOW|SMARCB1|ENSG00000099956|repeat:1|ENST00000263121|protein_coding|5/9|c.628+13C>T||||||,T|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:2_X_approximate_tandem_repeats|ENST00000263121|protein_coding|6/9|c.628+13C>T||||||,T|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:2_X_approximate_tandem_repeats|ENST00000263121|protein_coding|5/9|c.628+13C>T||||||,T|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:2_X_approximate_tandem_repeats|ENST00000263121|protein_coding|7/9|c.628+13C>T||||||,T|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:HIV-1_integrase-binding|ENST00000407422|protein_coding|6/9|c.601+13C>T||||||,T|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:HIV-1_integrase-binding|ENST00000407422|protein_coding|5/9|c.601+13C>T||||||,T|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:MYC-binding|ENST00000407422|protein_coding|6/9|c.601+13C>T||||||,T|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:MYC-binding|ENST00000407422|protein_coding|5/9|c.601+13C>T||||||,T|sequence_feature|LOW|SMARCB1|ENSG00000099956|repeat:1|ENST00000407422|protein_coding|6/9|c.601+13C>T||||||,T|sequence_feature|LOW|SMARCB1|ENSG00000099956|repeat:1|ENST00000407422|protein_coding|5/9|c.601+13C>T||||||,T|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:2_X_approximate_tandem_repeats|ENST00000407422|protein_coding|6/9|c.601+13C>T||||||,T|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:2_X_approximate_tandem_repeats|ENST00000407422|protein_coding|5/9|c.601+13C>T||||||,T|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:2_X_approximate_tandem_repeats|ENST00000407422|protein_coding|7/9|c.601+13C>T||||||,T|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000417137|protein_coding||c.*889C>T|||||13|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000491967|processed_transcript||n.*605C>T|||||1975|,T|intron_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding|5/8|c.655+13C>T||||||,T|intron_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding|5/8|c.628+13C>T||||||,T|intron_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding|5/8|c.601+13C>T||||||,T|intron_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding|4/7|c.490+13C>T|||||| 22 24158908 . C G . . ANN=G|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:HIV-1_integrase-binding|ENST00000263121|protein_coding|6/9|c.629-49C>G||||||,G|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:HIV-1_integrase-binding|ENST00000263121|protein_coding|5/9|c.629-49C>G||||||,G|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:MYC-binding|ENST00000263121|protein_coding|6/9|c.629-49C>G||||||,G|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:MYC-binding|ENST00000263121|protein_coding|5/9|c.629-49C>G||||||,G|sequence_feature|LOW|SMARCB1|ENSG00000099956|repeat:1|ENST00000263121|protein_coding|6/9|c.629-49C>G||||||,G|sequence_feature|LOW|SMARCB1|ENSG00000099956|repeat:1|ENST00000263121|protein_coding|5/9|c.629-49C>G||||||,G|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:2_X_approximate_tandem_repeats|ENST00000263121|protein_coding|6/9|c.629-49C>G||||||,G|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:2_X_approximate_tandem_repeats|ENST00000263121|protein_coding|5/9|c.629-49C>G||||||,G|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:2_X_approximate_tandem_repeats|ENST00000263121|protein_coding|7/9|c.629-49C>G||||||,G|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:HIV-1_integrase-binding|ENST00000407422|protein_coding|6/9|c.602-49C>G||||||,G|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:HIV-1_integrase-binding|ENST00000407422|protein_coding|5/9|c.602-49C>G||||||,G|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:MYC-binding|ENST00000407422|protein_coding|6/9|c.602-49C>G||||||,G|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:MYC-binding|ENST00000407422|protein_coding|5/9|c.602-49C>G||||||,G|sequence_feature|LOW|SMARCB1|ENSG00000099956|repeat:1|ENST00000407422|protein_coding|6/9|c.602-49C>G||||||,G|sequence_feature|LOW|SMARCB1|ENSG00000099956|repeat:1|ENST00000407422|protein_coding|5/9|c.602-49C>G||||||,G|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:2_X_approximate_tandem_repeats|ENST00000407422|protein_coding|6/9|c.602-49C>G||||||,G|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:2_X_approximate_tandem_repeats|ENST00000407422|protein_coding|5/9|c.602-49C>G||||||,G|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:2_X_approximate_tandem_repeats|ENST00000407422|protein_coding|7/9|c.602-49C>G||||||,G|intron_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding|5/8|c.656-49C>G||||||,G|intron_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding|5/8|c.629-49C>G||||||,G|intron_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding|5/8|c.602-49C>G||||||,G|intron_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding|4/7|c.491-49C>G||||||,G|non_coding_exon_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000477836|processed_transcript|1/2|n.353C>G|||||| 22 24158936 . C A . . ANN=A|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:HIV-1_integrase-binding|ENST00000263121|protein_coding|6/9|c.629-21C>A||||||,A|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:HIV-1_integrase-binding|ENST00000263121|protein_coding|5/9|c.629-21C>A||||||,A|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:MYC-binding|ENST00000263121|protein_coding|6/9|c.629-21C>A||||||,A|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:MYC-binding|ENST00000263121|protein_coding|5/9|c.629-21C>A||||||,A|sequence_feature|LOW|SMARCB1|ENSG00000099956|repeat:1|ENST00000263121|protein_coding|6/9|c.629-21C>A||||||,A|sequence_feature|LOW|SMARCB1|ENSG00000099956|repeat:1|ENST00000263121|protein_coding|5/9|c.629-21C>A||||||,A|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:2_X_approximate_tandem_repeats|ENST00000263121|protein_coding|6/9|c.629-21C>A||||||,A|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:2_X_approximate_tandem_repeats|ENST00000263121|protein_coding|5/9|c.629-21C>A||||||,A|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:2_X_approximate_tandem_repeats|ENST00000263121|protein_coding|7/9|c.629-21C>A||||||,A|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:HIV-1_integrase-binding|ENST00000407422|protein_coding|6/9|c.602-21C>A||||||,A|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:HIV-1_integrase-binding|ENST00000407422|protein_coding|5/9|c.602-21C>A||||||,A|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:MYC-binding|ENST00000407422|protein_coding|6/9|c.602-21C>A||||||,A|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:MYC-binding|ENST00000407422|protein_coding|5/9|c.602-21C>A||||||,A|sequence_feature|LOW|SMARCB1|ENSG00000099956|repeat:1|ENST00000407422|protein_coding|6/9|c.602-21C>A||||||,A|sequence_feature|LOW|SMARCB1|ENSG00000099956|repeat:1|ENST00000407422|protein_coding|5/9|c.602-21C>A||||||,A|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:2_X_approximate_tandem_repeats|ENST00000407422|protein_coding|6/9|c.602-21C>A||||||,A|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:2_X_approximate_tandem_repeats|ENST00000407422|protein_coding|5/9|c.602-21C>A||||||,A|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:2_X_approximate_tandem_repeats|ENST00000407422|protein_coding|7/9|c.602-21C>A||||||,A|intron_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding|5/8|c.656-21C>A||||||,A|intron_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding|5/8|c.629-21C>A||||||,A|intron_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding|5/8|c.602-21C>A||||||,A|intron_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding|4/7|c.491-21C>A||||||,A|non_coding_exon_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000477836|processed_transcript|1/2|n.381C>A|||||| 22 24167513 . G A . . ANN=A|synonymous_variant|LOW|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding|7/9|c.924G>A|p.Ser308Ser|1131/1728|924/1185|308/394||,A|synonymous_variant|LOW|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding|7/9|c.897G>A|p.Ser299Ser|1093/1690|897/1158|299/385||,A|synonymous_variant|LOW|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding|7/9|c.870G>A|p.Ser290Ser|1046/1643|870/1131|290/376||,A|synonymous_variant|LOW|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding|6/8|c.759G>A|p.Ser253Ser|918/1182|759/1020|253/339||,A|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:2_X_approximate_tandem_repeats|ENST00000263121|protein_coding|6/9|c.897G>A||||||,A|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:2_X_approximate_tandem_repeats|ENST00000263121|protein_coding|5/9|c.897G>A||||||,A|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:2_X_approximate_tandem_repeats|ENST00000263121|protein_coding|7/9|c.897G>A||||||,A|sequence_feature|LOW|SMARCB1|ENSG00000099956|repeat:2|ENST00000263121|protein_coding|6/9|c.897G>A||||||,A|sequence_feature|LOW|SMARCB1|ENSG00000099956|repeat:2|ENST00000263121|protein_coding|7/9|c.897G>A||||||,A|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:2_X_approximate_tandem_repeats|ENST00000407422|protein_coding|6/9|c.870G>A||||||,A|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:2_X_approximate_tandem_repeats|ENST00000407422|protein_coding|5/9|c.870G>A||||||,A|sequence_feature|LOW|SMARCB1|ENSG00000099956|region_of_interest:2_X_approximate_tandem_repeats|ENST00000407422|protein_coding|7/9|c.870G>A||||||,A|sequence_feature|LOW|SMARCB1|ENSG00000099956|repeat:2|ENST00000407422|protein_coding|6/9|c.870G>A||||||,A|sequence_feature|LOW|SMARCB1|ENSG00000099956|repeat:2|ENST00000407422|protein_coding|7/9|c.870G>A||||||,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000477836|processed_transcript||n.*660G>A|||||10| 22 24167594 . C T . . ANN=T|synonymous_variant|LOW|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding|7/9|c.1005C>T|p.Tyr335Tyr|1212/1728|1005/1185|335/394||,T|synonymous_variant|LOW|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding|7/9|c.978C>T|p.Tyr326Tyr|1174/1690|978/1158|326/385||,T|synonymous_variant|LOW|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding|7/9|c.951C>T|p.Tyr317Tyr|1127/1643|951/1131|317/376||,T|synonymous_variant|LOW|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding|6/8|c.840C>T|p.Tyr280Tyr|999/1182|840/1020|280/339||,T|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000477836|processed_transcript||n.*660C>T|||||91| 22 24175746 . C T . . ANN=T|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000406855|protein_coding||c.*739G>A|||||944|,T|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464023|processed_transcript||n.*645G>A|||||944|,T|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000404056|protein_coding||c.*556G>A|||||944|,T|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000290730|retained_intron||n.*3525G>A|||||944|,T|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000493596|processed_transcript||n.*172G>A|||||2906|,T|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464034|processed_transcript||n.*372G>A|||||3175|,T|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000488272|processed_transcript||n.*459G>A|||||3175|,T|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000318109|protein_coding||c.*725G>A|||||3175|,T|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000476077|protein_coding||c.*643G>A|||||3175|,T|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464110|retained_intron||n.*755G>A|||||3208|,T|intron_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding|7/8|c.1014-13C>T||||||,T|intron_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding|7/8|c.987-13C>T||||||,T|intron_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding|7/8|c.960-13C>T||||||,T|intron_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding|6/7|c.849-13C>T|||||| 22 24175759 . C T . . ANN=T|splice_region_variant&synonymous_variant|LOW|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding|8/9|c.1014C>T|p.Ser338Ser|1221/1728|1014/1185|338/394||,T|splice_region_variant&synonymous_variant|LOW|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding|8/9|c.987C>T|p.Ser329Ser|1183/1690|987/1158|329/385||,T|splice_region_variant&synonymous_variant|LOW|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding|8/9|c.960C>T|p.Ser320Ser|1136/1643|960/1131|320/376||,T|splice_region_variant&synonymous_variant|LOW|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding|7/8|c.849C>T|p.Ser283Ser|1008/1182|849/1020|283/339||,T|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000406855|protein_coding||c.*739G>A|||||931|,T|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464023|processed_transcript||n.*645G>A|||||931|,T|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000404056|protein_coding||c.*556G>A|||||931|,T|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000290730|retained_intron||n.*3525G>A|||||931|,T|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000493596|processed_transcript||n.*172G>A|||||2893|,T|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464034|processed_transcript||n.*372G>A|||||3162|,T|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000488272|processed_transcript||n.*459G>A|||||3162|,T|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000318109|protein_coding||c.*725G>A|||||3162|,T|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000476077|protein_coding||c.*643G>A|||||3162|,T|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464110|retained_intron||n.*755G>A|||||3195| 22 24175888 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding|8/9|c.1143G>A|p.Thr381Thr|1350/1728|1143/1185|381/394||,A|splice_region_variant&synonymous_variant|LOW|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding|8/9|c.1116G>A|p.Thr372Thr|1312/1690|1116/1158|372/385||,A|splice_region_variant&synonymous_variant|LOW|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding|8/9|c.1089G>A|p.Thr363Thr|1265/1643|1089/1131|363/376||,A|splice_region_variant&synonymous_variant|LOW|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding|7/8|c.978G>A|p.Thr326Thr|1137/1182|978/1020|326/339||,A|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000406855|protein_coding||c.*739C>T|||||802|,A|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464023|processed_transcript||n.*645C>T|||||802|,A|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000404056|protein_coding||c.*556C>T|||||802|,A|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000290730|retained_intron||n.*3525C>T|||||802|,A|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000493596|processed_transcript||n.*172C>T|||||2764|,A|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464034|processed_transcript||n.*372C>T|||||3033|,A|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000488272|processed_transcript||n.*459C>T|||||3033|,A|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000318109|protein_coding||c.*725C>T|||||3033|,A|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000476077|protein_coding||c.*643C>T|||||3033|,A|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464110|retained_intron||n.*755C>T|||||3066| 22 24176287 . G A . . ANN=A|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000406855|protein_coding||c.*739C>T|||||403|,A|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464023|processed_transcript||n.*645C>T|||||403|,A|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000404056|protein_coding||c.*556C>T|||||403|,A|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000290730|retained_intron||n.*3525C>T|||||403|,A|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000493596|processed_transcript||n.*172C>T|||||2365|,A|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464034|processed_transcript||n.*372C>T|||||2634|,A|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000488272|processed_transcript||n.*459C>T|||||2634|,A|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000318109|protein_coding||c.*725C>T|||||2634|,A|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000476077|protein_coding||c.*643C>T|||||2634|,A|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464110|retained_intron||n.*755C>T|||||2667|,A|intron_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding|8/8|c.1146-41G>A||||||,A|intron_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding|8/8|c.1119-41G>A||||||,A|intron_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding|8/8|c.1092-41G>A||||||,A|intron_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding|7/7|c.981-41G>A|||||| 22 24176298 . G A . . ANN=A|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000406855|protein_coding||c.*739C>T|||||392|,A|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464023|processed_transcript||n.*645C>T|||||392|,A|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000404056|protein_coding||c.*556C>T|||||392|,A|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000290730|retained_intron||n.*3525C>T|||||392|,A|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000493596|processed_transcript||n.*172C>T|||||2354|,A|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464034|processed_transcript||n.*372C>T|||||2623|,A|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000488272|processed_transcript||n.*459C>T|||||2623|,A|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000318109|protein_coding||c.*725C>T|||||2623|,A|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000476077|protein_coding||c.*643C>T|||||2623|,A|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464110|retained_intron||n.*755C>T|||||2656|,A|intron_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding|8/8|c.1146-30G>A||||||,A|intron_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding|8/8|c.1119-30G>A||||||,A|intron_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding|8/8|c.1092-30G>A||||||,A|intron_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding|7/7|c.981-30G>A|||||| 22 24176340 . T C . . ANN=C|synonymous_variant|LOW|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding|9/9|c.1158T>C|p.Arg386Arg|1365/1728|1158/1185|386/394||,C|synonymous_variant|LOW|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding|9/9|c.1131T>C|p.Arg377Arg|1327/1690|1131/1158|377/385||,C|synonymous_variant|LOW|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding|9/9|c.1104T>C|p.Arg368Arg|1280/1643|1104/1131|368/376||,C|synonymous_variant|LOW|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding|8/8|c.993T>C|p.Arg331Arg|1152/1182|993/1020|331/339||,C|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000406855|protein_coding||c.*739A>G|||||350|,C|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464023|processed_transcript||n.*645A>G|||||350|,C|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000404056|protein_coding||c.*556A>G|||||350|,C|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000290730|retained_intron||n.*3525A>G|||||350|,C|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000493596|processed_transcript||n.*172A>G|||||2312|,C|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464034|processed_transcript||n.*372A>G|||||2581|,C|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000488272|processed_transcript||n.*459A>G|||||2581|,C|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000318109|protein_coding||c.*725A>G|||||2581|,C|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000476077|protein_coding||c.*643A>G|||||2581|,C|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464110|retained_intron||n.*755A>G|||||2614| 22 24177094 . C T . . ANN=T|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000406855|protein_coding|7/7|c.640G>A|p.Ala214Thr|659/1063|640/720|214/239||,T|3_prime_UTR_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000404056|protein_coding|5/5|c.*2153G>A|||||2153|,T|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding||c.*1392C>T|||||391|,T|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding||c.*1354C>T|||||391|,T|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding||c.*1307C>T|||||391|,T|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding||c.*1179C>T|||||724|,T|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000493596|processed_transcript||n.*172G>A|||||1558|,T|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464034|processed_transcript||n.*372G>A|||||1827|,T|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000488272|processed_transcript||n.*459G>A|||||1827|,T|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000318109|protein_coding||c.*725G>A|||||1827|,T|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000476077|protein_coding||c.*643G>A|||||1827|,T|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464110|retained_intron||n.*755G>A|||||1860|,T|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464023|processed_transcript|2/2|n.241G>A||||||,T|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000290730|retained_intron|5/5|n.3121G>A|||||| 22 24179010 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000404056|protein_coding|5/5|c.*237C>T|||||237|,A|3_prime_UTR_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000318109|protein_coding|7/7|c.*46C>T|||||46|,A|3_prime_UTR_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000476077|protein_coding|6/6|c.*237C>T|||||237|,A|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464023|processed_transcript||n.-1C>T|||||309|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding||c.*1392G>A|||||2307|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding||c.*1354G>A|||||2307|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding||c.*1307G>A|||||2307|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding||c.*1179G>A|||||2640|,A|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000406855|protein_coding|6/6|c.614+241C>T||||||,A|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000493596|processed_transcript|2/2|n.117+241C>T||||||,A|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000290730|retained_intron|5/5|n.1205C>T||||||,A|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464034|processed_transcript|3/3|n.283C>T||||||,A|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000488272|processed_transcript|4/4|n.370C>T||||||,A|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464110|retained_intron|3/3|n.699C>T|||||| 22 24179038 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000404056|protein_coding|5/5|c.*209G>A|||||209|,T|3_prime_UTR_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000318109|protein_coding|7/7|c.*18G>A|||||18|,T|3_prime_UTR_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000476077|protein_coding|6/6|c.*209G>A|||||209|,T|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464023|processed_transcript||n.-1G>A|||||337|,T|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding||c.*1392C>T|||||2335|,T|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding||c.*1354C>T|||||2335|,T|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding||c.*1307C>T|||||2335|,T|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding||c.*1179C>T|||||2668|,T|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000406855|protein_coding|6/6|c.614+213G>A||||||,T|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000493596|processed_transcript|2/2|n.117+213G>A||||||,T|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000290730|retained_intron|5/5|n.1177G>A||||||,T|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464034|processed_transcript|3/3|n.255G>A||||||,T|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000488272|processed_transcript|4/4|n.342G>A||||||,T|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464110|retained_intron|3/3|n.671G>A|||||| 22 24179051 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000404056|protein_coding|5/5|c.*196C>T|||||196|,A|3_prime_UTR_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000318109|protein_coding|7/7|c.*5C>T|||||5|,A|3_prime_UTR_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000476077|protein_coding|6/6|c.*196C>T|||||196|,A|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464023|processed_transcript||n.-1C>T|||||350|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding||c.*1392G>A|||||2348|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding||c.*1354G>A|||||2348|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding||c.*1307G>A|||||2348|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding||c.*1179G>A|||||2681|,A|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000406855|protein_coding|6/6|c.614+200C>T||||||,A|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000493596|processed_transcript|2/2|n.117+200C>T||||||,A|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000290730|retained_intron|5/5|n.1164C>T||||||,A|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464034|processed_transcript|3/3|n.242C>T||||||,A|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000488272|processed_transcript|4/4|n.329C>T||||||,A|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464110|retained_intron|3/3|n.658C>T|||||| 22 24179066 . G A . . ANN=A|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000318109|protein_coding|7/7|c.698C>T|p.Pro233Leu|715/860|698/708|233/235||,A|sequence_feature|LOW|DERL3|ENSG00000099958|topological_domain:Cytoplasmic|ENST00000318109|protein_coding|6/7|c.698C>T||||||,A|sequence_feature|LOW|DERL3|ENSG00000099958|topological_domain:Cytoplasmic|ENST00000318109|protein_coding|7/7|c.698C>T||||||,A|3_prime_UTR_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000404056|protein_coding|5/5|c.*181C>T|||||181|,A|3_prime_UTR_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000476077|protein_coding|6/6|c.*181C>T|||||181|,A|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464023|processed_transcript||n.-1C>T|||||365|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding||c.*1392G>A|||||2363|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding||c.*1354G>A|||||2363|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding||c.*1307G>A|||||2363|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding||c.*1179G>A|||||2696|,A|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000406855|protein_coding|6/6|c.614+185C>T||||||,A|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000493596|processed_transcript|2/2|n.117+185C>T||||||,A|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000290730|retained_intron|5/5|n.1149C>T||||||,A|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464034|processed_transcript|3/3|n.227C>T||||||,A|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000488272|processed_transcript|4/4|n.314C>T||||||,A|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464110|retained_intron|3/3|n.643C>T|||||| 22 24179132 . G A . . ANN=A|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000318109|protein_coding|7/7|c.632C>T|p.Ala211Val|649/860|632/708|211/235||,A|sequence_feature|LOW|DERL3|ENSG00000099958|topological_domain:Cytoplasmic|ENST00000318109|protein_coding|6/7|c.632C>T||||||,A|sequence_feature|LOW|DERL3|ENSG00000099958|topological_domain:Cytoplasmic|ENST00000318109|protein_coding|7/7|c.632C>T||||||,A|3_prime_UTR_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000404056|protein_coding|5/5|c.*115C>T|||||115|,A|3_prime_UTR_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000476077|protein_coding|6/6|c.*115C>T|||||115|,A|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464023|processed_transcript||n.-1C>T|||||431|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding||c.*1392G>A|||||2429|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding||c.*1354G>A|||||2429|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding||c.*1307G>A|||||2429|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding||c.*1179G>A|||||2762|,A|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000406855|protein_coding|6/6|c.614+119C>T||||||,A|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000493596|processed_transcript|2/2|n.117+119C>T||||||,A|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000290730|retained_intron|5/5|n.1083C>T||||||,A|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464034|processed_transcript|3/3|n.161C>T||||||,A|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000488272|processed_transcript|4/4|n.248C>T||||||,A|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464110|retained_intron|3/3|n.577C>T|||||| 22 24179176 . C G . . ANN=G|sequence_feature|LOW|DERL3|ENSG00000099958|topological_domain:Cytoplasmic|ENST00000318109|protein_coding|6/7|c.615-27G>C||||||,G|sequence_feature|LOW|DERL3|ENSG00000099958|topological_domain:Cytoplasmic|ENST00000318109|protein_coding|7/7|c.615-27G>C||||||,G|3_prime_UTR_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000404056|protein_coding|5/5|c.*71G>C|||||71|,G|3_prime_UTR_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000476077|protein_coding|6/6|c.*71G>C|||||71|,G|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464023|processed_transcript||n.-1G>C|||||475|,G|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding||c.*1392C>G|||||2473|,G|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding||c.*1354C>G|||||2473|,G|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding||c.*1307C>G|||||2473|,G|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding||c.*1179C>G|||||2806|,G|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000406855|protein_coding|6/6|c.614+75G>C||||||,G|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000493596|processed_transcript|2/2|n.117+75G>C||||||,G|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464034|processed_transcript|2/2|n.144-27G>C||||||,G|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000488272|processed_transcript|3/3|n.231-27G>C||||||,G|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000318109|protein_coding|6/6|c.615-27G>C||||||,G|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000290730|retained_intron|5/5|n.1039G>C||||||,G|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464110|retained_intron|3/3|n.533G>C|||||| 22 24179326 . T A . . ANN=A|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000406855|protein_coding|6/7|c.539A>T|p.His180Leu|558/1063|539/720|180/239||,A|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000404056|protein_coding|5/5|c.458A>T|p.His153Leu|477/3113|458/537|153/178||,A|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000318109|protein_coding|6/7|c.539A>T|p.His180Leu|556/860|539/708|180/235||,A|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000476077|protein_coding|6/6|c.539A>T|p.His180Leu|564/969|539/618|180/205||,A|sequence_feature|LOW|DERL3|ENSG00000099958|topological_domain:Cytoplasmic|ENST00000318109|protein_coding|6/7|c.539A>T||||||,A|sequence_feature|LOW|DERL3|ENSG00000099958|topological_domain:Cytoplasmic|ENST00000318109|protein_coding|7/7|c.539A>T||||||,A|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464023|processed_transcript||n.-1A>T|||||625|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding||c.*1392T>A|||||2623|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding||c.*1354T>A|||||2623|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding||c.*1307T>A|||||2623|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding||c.*1179T>A|||||2956|,A|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000290730|retained_intron|5/5|n.889A>T||||||,A|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000493596|processed_transcript|2/3|n.42A>T||||||,A|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464034|processed_transcript|2/3|n.68A>T||||||,A|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000488272|processed_transcript|3/4|n.155A>T||||||,A|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464110|retained_intron|3/3|n.383A>T|||||| 22 24179334 . C T . . ANN=T|synonymous_variant|LOW|DERL3|ENSG00000099958|transcript|ENST00000406855|protein_coding|6/7|c.531G>A|p.Ala177Ala|550/1063|531/720|177/239||,T|synonymous_variant|LOW|DERL3|ENSG00000099958|transcript|ENST00000404056|protein_coding|5/5|c.450G>A|p.Ala150Ala|469/3113|450/537|150/178||,T|synonymous_variant|LOW|DERL3|ENSG00000099958|transcript|ENST00000318109|protein_coding|6/7|c.531G>A|p.Ala177Ala|548/860|531/708|177/235||,T|synonymous_variant|LOW|DERL3|ENSG00000099958|transcript|ENST00000476077|protein_coding|6/6|c.531G>A|p.Ala177Ala|556/969|531/618|177/205||,T|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000406855|protein_coding|6/7|c.531G>A||||||,T|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000406855|protein_coding|5/7|c.531G>A||||||,T|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000318109|protein_coding|6/7|c.531G>A||||||,T|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000318109|protein_coding|5/7|c.531G>A||||||,T|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000476077|protein_coding|6/6|c.531G>A||||||,T|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000476077|protein_coding|5/6|c.531G>A||||||,T|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464023|processed_transcript||n.-1G>A|||||633|,T|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding||c.*1392C>T|||||2631|,T|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding||c.*1354C>T|||||2631|,T|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding||c.*1307C>T|||||2631|,T|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding||c.*1179C>T|||||2964|,T|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000290730|retained_intron|5/5|n.881G>A||||||,T|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000493596|processed_transcript|2/3|n.34G>A||||||,T|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464034|processed_transcript|2/3|n.60G>A||||||,T|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000488272|processed_transcript|3/4|n.147G>A||||||,T|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464110|retained_intron|3/3|n.375G>A|||||| 22 24179357 . G A . . ANN=A|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000404056|protein_coding|5/5|c.427C>T|p.Arg143Cys|446/3113|427/537|143/178||,A|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000406855|protein_coding|6/7|c.524-16C>T||||||,A|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000406855|protein_coding|5/7|c.524-16C>T||||||,A|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000318109|protein_coding|6/7|c.524-16C>T||||||,A|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000318109|protein_coding|5/7|c.524-16C>T||||||,A|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000476077|protein_coding|6/6|c.524-16C>T||||||,A|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000476077|protein_coding|5/6|c.524-16C>T||||||,A|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464023|processed_transcript||n.-1C>T|||||656|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding||c.*1392G>A|||||2654|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding||c.*1354G>A|||||2654|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding||c.*1307G>A|||||2654|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding||c.*1179G>A|||||2987|,A|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000406855|protein_coding|5/6|c.524-16C>T||||||,A|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000290730|retained_intron|4/4|n.874-16C>T||||||,A|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000493596|processed_transcript|1/2|n.27-16C>T||||||,A|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464034|processed_transcript|1/2|n.53-16C>T||||||,A|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000488272|processed_transcript|2/3|n.140-16C>T||||||,A|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000318109|protein_coding|5/6|c.524-16C>T||||||,A|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000476077|protein_coding|5/5|c.524-16C>T||||||,A|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464110|retained_intron|2/2|n.368-16C>T|||||| 22 24179819 . G A . . ANN=A|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000406855|protein_coding|6/7|c.523+27C>T||||||,A|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000406855|protein_coding|5/7|c.523+27C>T||||||,A|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000318109|protein_coding|6/7|c.523+27C>T||||||,A|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000318109|protein_coding|5/7|c.523+27C>T||||||,A|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000476077|protein_coding|6/6|c.523+27C>T||||||,A|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000476077|protein_coding|5/6|c.523+27C>T||||||,A|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464023|processed_transcript||n.-1C>T|||||1118|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding||c.*1392G>A|||||3116|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding||c.*1354G>A|||||3116|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding||c.*1307G>A|||||3116|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding||c.*1179G>A|||||3449|,A|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000406855|protein_coding|5/6|c.523+27C>T||||||,A|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000404056|protein_coding|4/4|c.379+184C>T||||||,A|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000290730|retained_intron|4/4|n.873+27C>T||||||,A|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000493596|processed_transcript|1/2|n.26+27C>T||||||,A|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464034|processed_transcript|1/2|n.52+15C>T||||||,A|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000488272|processed_transcript|2/3|n.139+27C>T||||||,A|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000318109|protein_coding|5/6|c.523+27C>T||||||,A|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000476077|protein_coding|5/5|c.523+27C>T||||||,A|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464110|retained_intron|2/2|n.367+27C>T|||||| 22 24179872 . C T . . ANN=T|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000406855|protein_coding|5/7|c.497G>A|p.Gly166Asp|516/1063|497/720|166/239||,T|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000318109|protein_coding|5/7|c.497G>A|p.Gly166Asp|514/860|497/708|166/235||,T|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000476077|protein_coding|5/6|c.497G>A|p.Gly166Asp|522/969|497/618|166/205||,T|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000406855|protein_coding|6/7|c.497G>A||||||,T|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000406855|protein_coding|5/7|c.497G>A||||||,T|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000318109|protein_coding|6/7|c.497G>A||||||,T|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000318109|protein_coding|5/7|c.497G>A||||||,T|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000476077|protein_coding|6/6|c.497G>A||||||,T|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000476077|protein_coding|5/6|c.497G>A||||||,T|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464023|processed_transcript||n.-1G>A|||||1171|,T|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000493596|processed_transcript||n.-1G>A|||||1|,T|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding||c.*1392C>T|||||3169|,T|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding||c.*1354C>T|||||3169|,T|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding||c.*1307C>T|||||3169|,T|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding||c.*1179C>T|||||3502|,T|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000404056|protein_coding|4/4|c.379+131G>A||||||,T|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000290730|retained_intron|4/5|n.847G>A||||||,T|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464034|processed_transcript|1/3|n.14G>A||||||,T|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000488272|processed_transcript|2/4|n.113G>A||||||,T|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464110|retained_intron|2/3|n.341G>A|||||| 22 24179922 . G C . . ANN=C|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000406855|protein_coding|5/7|c.447C>G|p.Phe149Leu|466/1063|447/720|149/239||,C|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000318109|protein_coding|5/7|c.447C>G|p.Phe149Leu|464/860|447/708|149/235||,C|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000476077|protein_coding|5/6|c.447C>G|p.Phe149Leu|472/969|447/618|149/205||,C|splice_region_variant&intron_variant|LOW|DERL3|ENSG00000099958|transcript|ENST00000290730|retained_intron|3/4|n.801-4C>G||||||,C|splice_region_variant&intron_variant|LOW|DERL3|ENSG00000099958|transcript|ENST00000488272|processed_transcript|1/3|n.67-4C>G||||||,C|splice_region_variant&intron_variant|LOW|DERL3|ENSG00000099958|transcript|ENST00000464110|retained_intron|1/2|n.295-4C>G||||||,C|sequence_feature|LOW|DERL3|ENSG00000099958|topological_domain:Lumenal|ENST00000406855|protein_coding|5/7|c.447C>G||||||,C|sequence_feature|LOW|DERL3|ENSG00000099958|topological_domain:Lumenal|ENST00000318109|protein_coding|5/7|c.447C>G||||||,C|sequence_feature|LOW|DERL3|ENSG00000099958|topological_domain:Lumenal|ENST00000476077|protein_coding|5/6|c.447C>G||||||,C|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464023|processed_transcript||n.-1C>G|||||1221|,C|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000493596|processed_transcript||n.-1C>G|||||51|,C|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464034|processed_transcript||n.-1C>G|||||37|,C|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding||c.*1392G>C|||||3219|,C|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding||c.*1354G>C|||||3219|,C|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding||c.*1307G>C|||||3219|,C|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding||c.*1179G>C|||||3552|,C|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000404056|protein_coding|4/4|c.379+81C>G|||||| 22 24179952 . C T . . ANN=T|synonymous_variant|LOW|DERL3|ENSG00000099958|transcript|ENST00000406855|protein_coding|5/7|c.417G>A|p.Val139Val|436/1063|417/720|139/239||,T|synonymous_variant|LOW|DERL3|ENSG00000099958|transcript|ENST00000318109|protein_coding|5/7|c.417G>A|p.Val139Val|434/860|417/708|139/235||,T|synonymous_variant|LOW|DERL3|ENSG00000099958|transcript|ENST00000476077|protein_coding|5/6|c.417G>A|p.Val139Val|442/969|417/618|139/205||,T|sequence_feature|LOW|DERL3|ENSG00000099958|topological_domain:Lumenal|ENST00000406855|protein_coding|5/7|c.417G>A||||||,T|sequence_feature|LOW|DERL3|ENSG00000099958|topological_domain:Lumenal|ENST00000318109|protein_coding|5/7|c.417G>A||||||,T|sequence_feature|LOW|DERL3|ENSG00000099958|topological_domain:Lumenal|ENST00000476077|protein_coding|5/6|c.417G>A||||||,T|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464023|processed_transcript||n.-1G>A|||||1251|,T|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000493596|processed_transcript||n.-1G>A|||||81|,T|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464034|processed_transcript||n.-1G>A|||||67|,T|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding||c.*1392C>T|||||3249|,T|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding||c.*1354C>T|||||3249|,T|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding||c.*1307C>T|||||3249|,T|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding||c.*1179C>T|||||3582|,T|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000404056|protein_coding|4/4|c.379+51G>A||||||,T|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000290730|retained_intron|3/4|n.801-34G>A||||||,T|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000488272|processed_transcript|1/3|n.67-34G>A||||||,T|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464110|retained_intron|1/2|n.295-34G>A|||||| 22 24179956 . C A . . ANN=A|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000406855|protein_coding|5/7|c.413G>T|p.Arg138Leu|432/1063|413/720|138/239||,A|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000318109|protein_coding|5/7|c.413G>T|p.Arg138Leu|430/860|413/708|138/235||,A|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000476077|protein_coding|5/6|c.413G>T|p.Arg138Leu|438/969|413/618|138/205||,A|sequence_feature|LOW|DERL3|ENSG00000099958|topological_domain:Lumenal|ENST00000406855|protein_coding|5/7|c.413G>T||||||,A|sequence_feature|LOW|DERL3|ENSG00000099958|topological_domain:Lumenal|ENST00000318109|protein_coding|5/7|c.413G>T||||||,A|sequence_feature|LOW|DERL3|ENSG00000099958|topological_domain:Lumenal|ENST00000476077|protein_coding|5/6|c.413G>T||||||,A|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464023|processed_transcript||n.-1G>T|||||1255|,A|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000493596|processed_transcript||n.-1G>T|||||85|,A|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464034|processed_transcript||n.-1G>T|||||71|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding||c.*1392C>A|||||3253|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding||c.*1354C>A|||||3253|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding||c.*1307C>A|||||3253|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding||c.*1179C>A|||||3586|,A|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000404056|protein_coding|4/4|c.379+47G>T||||||,A|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000290730|retained_intron|3/4|n.801-38G>T||||||,A|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000488272|processed_transcript|1/3|n.67-38G>T||||||,A|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464110|retained_intron|1/2|n.295-38G>T|||||| 22 24180049 . A T . . ANN=T|splice_region_variant&intron_variant|LOW|DERL3|ENSG00000099958|transcript|ENST00000406855|protein_coding|4/6|c.328-8T>A||||||,T|splice_region_variant&intron_variant|LOW|DERL3|ENSG00000099958|transcript|ENST00000404056|protein_coding|3/4|c.341-8T>A||||||,T|splice_region_variant&intron_variant|LOW|DERL3|ENSG00000099958|transcript|ENST00000318109|protein_coding|4/6|c.328-8T>A||||||,T|splice_region_variant&intron_variant|LOW|DERL3|ENSG00000099958|transcript|ENST00000476077|protein_coding|4/5|c.328-8T>A||||||,T|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000406855|protein_coding|4/7|c.328-8T>A||||||,T|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000406855|protein_coding|5/7|c.328-8T>A||||||,T|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000318109|protein_coding|4/7|c.328-8T>A||||||,T|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000318109|protein_coding|5/7|c.328-8T>A||||||,T|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000476077|protein_coding|4/6|c.328-8T>A||||||,T|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000476077|protein_coding|5/6|c.328-8T>A||||||,T|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464023|processed_transcript||n.-1T>A|||||1348|,T|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000493596|processed_transcript||n.-1T>A|||||178|,T|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464034|processed_transcript||n.-1T>A|||||164|,T|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding||c.*1392A>T|||||3346|,T|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding||c.*1354A>T|||||3346|,T|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding||c.*1307A>T|||||3346|,T|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding||c.*1179A>T|||||3679|,T|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000290730|retained_intron|3/4|n.801-131T>A||||||,T|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000488272|processed_transcript|1/3|n.67-131T>A||||||,T|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464110|retained_intron|1/2|n.295-131T>A|||||| 22 24180065 . G A . . ANN=A|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000406855|protein_coding|4/7|c.328-24C>T||||||,A|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000406855|protein_coding|5/7|c.328-24C>T||||||,A|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000318109|protein_coding|4/7|c.328-24C>T||||||,A|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000318109|protein_coding|5/7|c.328-24C>T||||||,A|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000476077|protein_coding|4/6|c.328-24C>T||||||,A|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000476077|protein_coding|5/6|c.328-24C>T||||||,A|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464023|processed_transcript||n.-1C>T|||||1364|,A|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000493596|processed_transcript||n.-1C>T|||||194|,A|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464034|processed_transcript||n.-1C>T|||||180|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding||c.*1392G>A|||||3362|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding||c.*1354G>A|||||3362|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding||c.*1307G>A|||||3362|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding||c.*1179G>A|||||3695|,A|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000406855|protein_coding|4/6|c.328-24C>T||||||,A|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000404056|protein_coding|3/4|c.341-24C>T||||||,A|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000290730|retained_intron|3/4|n.801-147C>T||||||,A|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000488272|processed_transcript|1/3|n.67-147C>T||||||,A|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000318109|protein_coding|4/6|c.328-24C>T||||||,A|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000476077|protein_coding|4/5|c.328-24C>T||||||,A|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464110|retained_intron|1/2|n.295-147C>T|||||| 22 24180091 . G GC . . ANN=C|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000406855|protein_coding|4/7|c.328-51dupG||||||,C|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000406855|protein_coding|5/7|c.328-51dupG||||||,C|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000318109|protein_coding|4/7|c.328-51dupG||||||,C|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000318109|protein_coding|5/7|c.328-51dupG||||||,C|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000476077|protein_coding|4/6|c.328-51dupG||||||,C|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000476077|protein_coding|5/6|c.328-51dupG||||||,C|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464023|processed_transcript||n.-1dupG|||||1391|,C|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000493596|processed_transcript||n.-1dupG|||||221|,C|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464034|processed_transcript||n.-1dupG|||||207|,C|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding||c.*1392_*1392insC|||||3389|,C|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding||c.*1354_*1354insC|||||3389|,C|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding||c.*1307_*1307insC|||||3389|,C|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding||c.*1179_*1179insC|||||3722|,C|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000406855|protein_coding|4/6|c.328-51dupG||||||,C|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000404056|protein_coding|3/4|c.341-51dupG||||||,C|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000290730|retained_intron|3/4|n.801-174dupG||||||,C|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000488272|processed_transcript|1/3|n.67-174dupG||||||,C|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000318109|protein_coding|4/6|c.328-51dupG||||||,C|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000476077|protein_coding|4/5|c.328-51dupG||||||,C|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464110|retained_intron|1/2|n.295-174dupG|||||| 22 24180581 . G C . . ANN=C|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000404056|protein_coding|3/5|c.298C>G|p.Arg100Gly|317/3113|298/537|100/178||,C|synonymous_variant|LOW|DERL3|ENSG00000099958|transcript|ENST00000406855|protein_coding|4/7|c.285C>G|p.Ala95Ala|304/1063|285/720|95/239||,C|synonymous_variant|LOW|DERL3|ENSG00000099958|transcript|ENST00000318109|protein_coding|4/7|c.285C>G|p.Ala95Ala|302/860|285/708|95/235||,C|synonymous_variant|LOW|DERL3|ENSG00000099958|transcript|ENST00000476077|protein_coding|4/6|c.285C>G|p.Ala95Ala|310/969|285/618|95/205||,C|sequence_feature|LOW|DERL3|ENSG00000099958|topological_domain:Cytoplasmic|ENST00000406855|protein_coding|4/7|c.285C>G||||||,C|sequence_feature|LOW|DERL3|ENSG00000099958|topological_domain:Cytoplasmic|ENST00000318109|protein_coding|4/7|c.285C>G||||||,C|sequence_feature|LOW|DERL3|ENSG00000099958|topological_domain:Cytoplasmic|ENST00000476077|protein_coding|4/6|c.285C>G||||||,C|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464023|processed_transcript||n.-1C>G|||||1880|,C|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000493596|processed_transcript||n.-1C>G|||||710|,C|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464034|processed_transcript||n.-1C>G|||||696|,C|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000488272|processed_transcript||n.-1C>G|||||191|,C|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding||c.*1392G>C|||||3878|,C|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding||c.*1354G>C|||||3878|,C|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding||c.*1307G>C|||||3878|,C|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding||c.*1179G>C|||||4211|,C|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464110|retained_intron|1/2|n.294+317C>G||||||,C|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000290730|retained_intron|3/5|n.544C>G|||||| 22 24180588 . C G . . ANN=G|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000406855|protein_coding|4/7|c.278G>C|p.Arg93Pro|297/1063|278/720|93/239||,G|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000318109|protein_coding|4/7|c.278G>C|p.Arg93Pro|295/860|278/708|93/235||,G|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000476077|protein_coding|4/6|c.278G>C|p.Arg93Pro|303/969|278/618|93/205||,G|synonymous_variant|LOW|DERL3|ENSG00000099958|transcript|ENST00000404056|protein_coding|3/5|c.291G>C|p.Pro97Pro|310/3113|291/537|97/178||,G|sequence_feature|LOW|DERL3|ENSG00000099958|topological_domain:Cytoplasmic|ENST00000406855|protein_coding|4/7|c.278G>C||||||,G|sequence_feature|LOW|DERL3|ENSG00000099958|topological_domain:Cytoplasmic|ENST00000318109|protein_coding|4/7|c.278G>C||||||,G|sequence_feature|LOW|DERL3|ENSG00000099958|topological_domain:Cytoplasmic|ENST00000476077|protein_coding|4/6|c.278G>C||||||,G|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464023|processed_transcript||n.-1G>C|||||1887|,G|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000493596|processed_transcript||n.-1G>C|||||717|,G|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464034|processed_transcript||n.-1G>C|||||703|,G|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000488272|processed_transcript||n.-1G>C|||||198|,G|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding||c.*1392C>G|||||3885|,G|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding||c.*1354C>G|||||3885|,G|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding||c.*1307C>G|||||3885|,G|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding||c.*1179C>G|||||4218|,G|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464110|retained_intron|1/2|n.294+310G>C||||||,G|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000290730|retained_intron|3/5|n.537G>C|||||| 22 24180674 . G GT . . ANN=T|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000406855|protein_coding|3/7|c.234-43dupA||||||,T|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000406855|protein_coding|4/7|c.234-43dupA||||||,T|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000318109|protein_coding|3/7|c.234-43dupA||||||,T|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000318109|protein_coding|4/7|c.234-43dupA||||||,T|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000476077|protein_coding|3/6|c.234-43dupA||||||,T|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000476077|protein_coding|4/6|c.234-43dupA||||||,T|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464023|processed_transcript||n.-1dupA|||||1974|,T|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000493596|processed_transcript||n.-1dupA|||||804|,T|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464034|processed_transcript||n.-1dupA|||||790|,T|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000488272|processed_transcript||n.-1dupA|||||285|,T|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding||c.*1392_*1392insT|||||3972|,T|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding||c.*1354_*1354insT|||||3972|,T|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding||c.*1307_*1307insT|||||3972|,T|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding||c.*1179_*1179insT|||||4305|,T|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000406855|protein_coding|3/6|c.234-43dupA||||||,T|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000404056|protein_coding|2/4|c.247-43dupA||||||,T|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000290730|retained_intron|2/4|n.493-43dupA||||||,T|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000318109|protein_coding|3/6|c.234-43dupA||||||,T|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000476077|protein_coding|3/5|c.234-43dupA||||||,T|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464110|retained_intron|1/2|n.294+223dupA|||||| 22 24180703 . C T . . ANN=T|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000406855|protein_coding|3/7|c.233+48G>A||||||,T|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000406855|protein_coding|4/7|c.233+48G>A||||||,T|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000318109|protein_coding|3/7|c.233+48G>A||||||,T|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000318109|protein_coding|4/7|c.233+48G>A||||||,T|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000476077|protein_coding|3/6|c.233+48G>A||||||,T|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000476077|protein_coding|4/6|c.233+48G>A||||||,T|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464023|processed_transcript||n.-1G>A|||||2002|,T|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000493596|processed_transcript||n.-1G>A|||||832|,T|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464034|processed_transcript||n.-1G>A|||||818|,T|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000488272|processed_transcript||n.-1G>A|||||313|,T|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding||c.*1392C>T|||||4000|,T|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding||c.*1354C>T|||||4000|,T|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding||c.*1307C>T|||||4000|,T|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding||c.*1179C>T|||||4333|,T|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000406855|protein_coding|3/6|c.233+48G>A||||||,T|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000404056|protein_coding|2/4|c.246+48G>A||||||,T|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000290730|retained_intron|2/4|n.492+48G>A||||||,T|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000318109|protein_coding|3/6|c.233+48G>A||||||,T|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000476077|protein_coding|3/5|c.233+48G>A||||||,T|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464110|retained_intron|1/2|n.294+195G>A|||||| 22 24180746 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|DERL3|ENSG00000099958|transcript|ENST00000406855|protein_coding|3/6|c.233+5C>T||||||,A|splice_region_variant&intron_variant|LOW|DERL3|ENSG00000099958|transcript|ENST00000404056|protein_coding|2/4|c.246+5C>T||||||,A|splice_region_variant&intron_variant|LOW|DERL3|ENSG00000099958|transcript|ENST00000290730|retained_intron|2/4|n.492+5C>T||||||,A|splice_region_variant&intron_variant|LOW|DERL3|ENSG00000099958|transcript|ENST00000318109|protein_coding|3/6|c.233+5C>T||||||,A|splice_region_variant&intron_variant|LOW|DERL3|ENSG00000099958|transcript|ENST00000476077|protein_coding|3/5|c.233+5C>T||||||,A|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000406855|protein_coding|3/7|c.233+5C>T||||||,A|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000406855|protein_coding|4/7|c.233+5C>T||||||,A|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000318109|protein_coding|3/7|c.233+5C>T||||||,A|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000318109|protein_coding|4/7|c.233+5C>T||||||,A|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000476077|protein_coding|3/6|c.233+5C>T||||||,A|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000476077|protein_coding|4/6|c.233+5C>T||||||,A|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464023|processed_transcript||n.-1C>T|||||2045|,A|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000493596|processed_transcript||n.-1C>T|||||875|,A|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464034|processed_transcript||n.-1C>T|||||861|,A|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000488272|processed_transcript||n.-1C>T|||||356|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding||c.*1392G>A|||||4043|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding||c.*1354G>A|||||4043|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding||c.*1307G>A|||||4043|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding||c.*1179G>A|||||4376|,A|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464110|retained_intron|1/2|n.294+152C>T|||||| 22 24181162 . C T . . ANN=T|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000406855|protein_coding|1/7|c.13G>A|p.Gly5Arg|32/1063|13/720|5/239||,T|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000404056|protein_coding|1/5|c.13G>A|p.Gly5Arg|32/3113|13/537|5/178||,T|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000318109|protein_coding|1/7|c.13G>A|p.Gly5Arg|30/860|13/708|5/235||,T|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000476077|protein_coding|1/6|c.13G>A|p.Gly5Arg|38/969|13/618|5/205||,T|sequence_feature|LOW|DERL3|ENSG00000099958|topological_domain:Cytoplasmic|ENST00000406855|protein_coding|1/7|c.13G>A||||||,T|sequence_feature|LOW|DERL3|ENSG00000099958|topological_domain:Cytoplasmic|ENST00000318109|protein_coding|1/7|c.13G>A||||||,T|sequence_feature|LOW|DERL3|ENSG00000099958|topological_domain:Cytoplasmic|ENST00000476077|protein_coding|1/6|c.13G>A||||||,T|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464023|processed_transcript||n.-1G>A|||||2461|,T|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000493596|processed_transcript||n.-1G>A|||||1291|,T|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464034|processed_transcript||n.-1G>A|||||1277|,T|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000488272|processed_transcript||n.-1G>A|||||772|,T|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding||c.*1392C>T|||||4459|,T|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding||c.*1354C>T|||||4459|,T|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding||c.*1307C>T|||||4459|,T|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding||c.*1179C>T|||||4792|,T|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000290730|retained_intron|1/5|n.154G>A||||||,T|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464110|retained_intron|1/3|n.30G>A|||||| 22 24181166 . C A . . ANN=A|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000406855|protein_coding|1/7|c.9G>T|p.Trp3Cys|28/1063|9/720|3/239||,A|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000404056|protein_coding|1/5|c.9G>T|p.Trp3Cys|28/3113|9/537|3/178||,A|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000318109|protein_coding|1/7|c.9G>T|p.Trp3Cys|26/860|9/708|3/235||,A|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000476077|protein_coding|1/6|c.9G>T|p.Trp3Cys|34/969|9/618|3/205||,A|sequence_feature|LOW|DERL3|ENSG00000099958|topological_domain:Cytoplasmic|ENST00000406855|protein_coding|1/7|c.9G>T||||||,A|sequence_feature|LOW|DERL3|ENSG00000099958|topological_domain:Cytoplasmic|ENST00000318109|protein_coding|1/7|c.9G>T||||||,A|sequence_feature|LOW|DERL3|ENSG00000099958|topological_domain:Cytoplasmic|ENST00000476077|protein_coding|1/6|c.9G>T||||||,A|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464023|processed_transcript||n.-1G>T|||||2465|,A|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000493596|processed_transcript||n.-1G>T|||||1295|,A|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464034|processed_transcript||n.-1G>T|||||1281|,A|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000488272|processed_transcript||n.-1G>T|||||776|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding||c.*1392C>A|||||4463|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding||c.*1354C>A|||||4463|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding||c.*1307C>A|||||4463|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding||c.*1179C>A|||||4796|,A|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000290730|retained_intron|1/5|n.150G>T||||||,A|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464110|retained_intron|1/3|n.26G>T|||||| 22 24199110 . C A . . ANN=A|5_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|1/13|c.-138C>A|||||567|,A|5_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|1/12|c.-48C>A|||||48|,A|5_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000403208|protein_coding|1/4|c.-48C>A|||||48|,A|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405847|protein_coding||c.-38C>A|||||11|,A|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript||n.-1C>A|||||23|,A|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript||n.-1C>A|||||28|,A|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay||n.-15C>A|||||34|,A|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron||n.-1C>A|||||34|,A|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000440493|processed_transcript||n.-1C>A|||||39|,A|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473740|retained_intron||n.-1C>A|||||77|,A|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000492516|retained_intron||n.-1C>A|||||413|,A|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000423972|nonsense_mediated_decay||n.-74C>A|||||494|,A|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000418102|nonsense_mediated_decay||n.-20C>A|||||548|,A|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000491948|retained_intron||n.-1C>A|||||952|,A|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000436643|nonsense_mediated_decay||n.-106C>A|||||972|,A|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay||n.-218C>A|||||996|,A|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron||n.-1C>A|||||1038|,A|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding||c.-38C>A|||||1040|,A|non_coding_exon_variant|MODIFIER|KB-1125A3.11|ENSG00000272973|transcript|ENST00000609825|antisense|1/1|n.117G>T|||||| 22 24199137 . C A . . ANN=A|5_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|1/13|c.-111C>A|||||540|,A|5_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|1/12|c.-21C>A|||||21|,A|5_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000403208|protein_coding|1/4|c.-21C>A|||||21|,A|5_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405847|protein_coding|1/5|c.-21C>A|||||21|,A|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript||n.-1C>A|||||1|,A|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay||n.-15C>A|||||7|,A|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron||n.-1C>A|||||7|,A|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000440493|processed_transcript||n.-1C>A|||||12|,A|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473740|retained_intron||n.-1C>A|||||50|,A|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000492516|retained_intron||n.-1C>A|||||386|,A|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000423972|nonsense_mediated_decay||n.-74C>A|||||467|,A|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000418102|nonsense_mediated_decay||n.-20C>A|||||521|,A|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000491948|retained_intron||n.-1C>A|||||925|,A|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000436643|nonsense_mediated_decay||n.-106C>A|||||945|,A|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay||n.-218C>A|||||969|,A|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron||n.-1C>A|||||1011|,A|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding||c.-38C>A|||||1013|,A|non_coding_exon_variant|MODIFIER|KB-1125A3.11|ENSG00000272973|transcript|ENST00000609825|antisense|1/1|n.90G>T||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript|1/9|n.5C>A|||||| 22 24199193 . C A . . ANN=A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|1/12|c.21+15C>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|2/12|c.21+15C>A||||||,A|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000492516|retained_intron||n.-1C>A|||||330|,A|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000423972|nonsense_mediated_decay||n.-74C>A|||||411|,A|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000418102|nonsense_mediated_decay||n.-20C>A|||||465|,A|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000491948|retained_intron||n.-1C>A|||||869|,A|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000436643|nonsense_mediated_decay||n.-106C>A|||||889|,A|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay||n.-218C>A|||||913|,A|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron||n.-1C>A|||||955|,A|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding||c.-38C>A|||||957|,A|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|1/12|c.-70+15C>A||||||,A|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|1/11|c.21+15C>A||||||,A|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000403208|protein_coding|1/3|c.21+15C>A||||||,A|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405847|protein_coding|1/4|c.21+15C>A||||||,A|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript|1/8|n.46+15C>A||||||,A|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript|1/7|n.41+15C>A||||||,A|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|1/10|n.21+15C>A||||||,A|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|1/8|n.35+15C>A||||||,A|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000440493|processed_transcript|1/3|n.30+15C>A||||||,A|non_coding_exon_variant|MODIFIER|KB-1125A3.11|ENSG00000272973|transcript|ENST00000609825|antisense|1/1|n.34G>T||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473740|retained_intron|1/4|n.7C>A|||||| 22 24199704 . C T . . ANN=T|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|2/13|c.28C>T|p.Arg10Trp|217/2388|28/1512|10/503||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|1/12|c.21+526C>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|2/12|c.21+526C>T||||||,T|upstream_gene_variant|MODIFIER|KB-1125A3.11|ENSG00000272973|transcript|ENST00000609825|antisense||n.-1G>A|||||478|,T|upstream_gene_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding||c.-1C>T|||||4671|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000491948|retained_intron||n.-1C>T|||||358|,T|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000436643|nonsense_mediated_decay||n.-106C>T|||||378|,T|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay||n.-218C>T|||||402|,T|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron||n.-1C>T|||||444|,T|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding||c.-38C>T|||||446|,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|1/11|c.21+526C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000403208|protein_coding|1/3|c.21+526C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405847|protein_coding|1/4|c.21+526C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|1/10|n.21+526C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|1/8|n.35+526C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript|2/9|n.143C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript|2/8|n.138C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000440493|processed_transcript|2/4|n.127C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473740|retained_intron|1/4|n.518C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000492516|retained_intron|1/2|n.182C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000423972|nonsense_mediated_decay|1/5|n.28C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000418102|nonsense_mediated_decay|1/5|n.28C>T|||||| 22 24199764 . AC A,ACC . . ANN=|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|1/12|c.21+587delC||||||,|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|2/12|c.21+587delC||||||,C|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|1/12|c.21+587dupC||||||,C|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|2/12|c.21+587dupC||||||,|upstream_gene_variant|MODIFIER|KB-1125A3.11|ENSG00000272973|transcript|ENST00000609825|antisense||n.-1delG|||||539|,C|upstream_gene_variant|MODIFIER|KB-1125A3.11|ENSG00000272973|transcript|ENST00000609825|antisense||n.-1dupG|||||540|,|upstream_gene_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding||c.-1delC|||||4610|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding||c.-1dupC|||||4609|WARNING_TRANSCRIPT_NO_START_CODON,|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000491948|retained_intron||n.-1delC|||||297|,C|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000491948|retained_intron||n.-1dupC|||||296|,|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000436643|nonsense_mediated_decay||n.-106delC|||||317|,C|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000436643|nonsense_mediated_decay||n.-106dupC|||||316|,|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay||n.-218delC|||||341|,C|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay||n.-218dupC|||||340|,|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron||n.-1delC|||||383|,C|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron||n.-1dupC|||||382|,|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding||c.-38delC|||||385|,C|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding||c.-38dupC|||||384|,|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|2/12|c.42+56delC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|2/12|c.42+56dupC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|1/11|c.21+596delC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|1/11|c.21+596dupC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000403208|protein_coding|1/3|c.21+596delC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000403208|protein_coding|1/3|c.21+596dupC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405847|protein_coding|1/4|c.21+596delC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405847|protein_coding|1/4|c.21+596dupC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript|2/8|n.157+56delC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript|2/8|n.157+56dupC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript|2/7|n.152+56delC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript|2/7|n.152+56dupC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|1/10|n.21+596delC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|1/10|n.21+596dupC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|1/8|n.35+596delC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|1/8|n.35+596dupC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000440493|processed_transcript|2/3|n.141+56delC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000440493|processed_transcript|2/3|n.141+56dupC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473740|retained_intron|1/3|n.532+56delC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473740|retained_intron|1/3|n.532+56dupC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000492516|retained_intron|1/1|n.196+56delC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000492516|retained_intron|1/1|n.196+56dupC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000423972|nonsense_mediated_decay|1/4|n.42+56delC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000423972|nonsense_mediated_decay|1/4|n.42+56dupC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000418102|nonsense_mediated_decay|1/4|n.42+56delC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000418102|nonsense_mediated_decay|1/4|n.42+56dupC||||||INFO_REALIGN_3_PRIME 22 24199766 . C CCT . . ANN=CT|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|1/12|c.21+588_21+589insCT||||||,CT|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|2/12|c.21+588_21+589insCT||||||,CT|upstream_gene_variant|MODIFIER|KB-1125A3.11|ENSG00000272973|transcript|ENST00000609825|antisense||n.-1_-1insAG|||||541|,CT|upstream_gene_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding||c.-1_-1insCT|||||4608|WARNING_TRANSCRIPT_NO_START_CODON,CT|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000491948|retained_intron||n.-1_-1insCT|||||295|,CT|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000436643|nonsense_mediated_decay||n.-106_-106insCT|||||315|,CT|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay||n.-218_-218insCT|||||339|,CT|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron||n.-1_-1insCT|||||381|,CT|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding||c.-38_-38insCT|||||383|,TC|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|2/12|c.42+49_42+50insTC||||||INFO_REALIGN_3_PRIME,TC|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|1/11|c.21+589_21+590insTC||||||INFO_REALIGN_3_PRIME,TC|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000403208|protein_coding|1/3|c.21+589_21+590insTC||||||INFO_REALIGN_3_PRIME,TC|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405847|protein_coding|1/4|c.21+589_21+590insTC||||||INFO_REALIGN_3_PRIME,TC|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript|2/8|n.157+49_157+50insTC||||||INFO_REALIGN_3_PRIME,TC|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript|2/7|n.152+49_152+50insTC||||||INFO_REALIGN_3_PRIME,TC|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|1/10|n.21+589_21+590insTC||||||INFO_REALIGN_3_PRIME,TC|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|1/8|n.35+589_35+590insTC||||||INFO_REALIGN_3_PRIME,TC|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000440493|processed_transcript|2/3|n.141+49_141+50insTC||||||INFO_REALIGN_3_PRIME,TC|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473740|retained_intron|1/3|n.532+49_532+50insTC||||||INFO_REALIGN_3_PRIME,TC|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000492516|retained_intron|1/1|n.196+49_196+50insTC||||||INFO_REALIGN_3_PRIME,TC|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000423972|nonsense_mediated_decay|1/4|n.42+49_42+50insTC||||||INFO_REALIGN_3_PRIME,TC|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000418102|nonsense_mediated_decay|1/4|n.42+49_42+50insTC||||||INFO_REALIGN_3_PRIME 22 24200164 . C G . . ANN=G|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|1/12|c.21+986C>G||||||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|2/12|c.21+986C>G||||||,G|5_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000436643|nonsense_mediated_decay|1/5|n.-23C>G|||||23|,G|5_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|1/12|n.-159C>G|||||159|,G|5_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|1/12|c.-23C>G|||||23|,G|upstream_gene_variant|MODIFIER|KB-1125A3.11|ENSG00000272973|transcript|ENST00000609825|antisense||n.-1G>C|||||938|,G|upstream_gene_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding||c.-1C>G|||||4211|WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|2/12|c.42+446C>G||||||,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|1/11|c.21+986C>G||||||,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000403208|protein_coding|1/3|c.21+986C>G||||||,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405847|protein_coding|1/4|c.21+986C>G||||||,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript|2/8|n.157+446C>G||||||,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript|2/7|n.152+446C>G||||||,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|1/10|n.21+986C>G||||||,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|1/8|n.35+986C>G||||||,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000440493|processed_transcript|2/3|n.141+446C>G||||||,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473740|retained_intron|1/3|n.532+446C>G||||||,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000492516|retained_intron|1/1|n.196+446C>G||||||,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000423972|nonsense_mediated_decay|1/4|n.42+446C>G||||||,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000418102|nonsense_mediated_decay|1/4|n.42+446C>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000491948|retained_intron|1/3|n.103C>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000436643|nonsense_mediated_decay|1/5|n.-23C>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|1/12|n.-159C>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|1/9|n.17C>G|||||| 22 24200243 . C T . . ANN=T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|1/12|c.21+1065C>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|2/12|c.21+1065C>T||||||,T|5_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|1/12|n.-80C>T|||||80|,T|upstream_gene_variant|MODIFIER|KB-1125A3.11|ENSG00000272973|transcript|ENST00000609825|antisense||n.-1G>A|||||1017|,T|upstream_gene_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding||c.-1C>T|||||4132|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|2/12|c.42+525C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|1/11|c.21+1065C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000403208|protein_coding|1/3|c.21+1065C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405847|protein_coding|1/4|c.21+1065C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript|2/8|n.157+525C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript|2/7|n.152+525C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|1/10|n.21+1065C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|1/8|n.35+1065C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000440493|processed_transcript|2/3|n.141+525C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473740|retained_intron|1/3|n.532+525C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000492516|retained_intron|1/1|n.196+525C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000423972|nonsense_mediated_decay|1/4|n.42+525C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000418102|nonsense_mediated_decay|1/4|n.42+525C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000491948|retained_intron|1/2|n.155+27C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000436643|nonsense_mediated_decay|1/4|n.30+27C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|1/8|n.69+27C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|1/11|c.30+27C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|1/12|n.-80C>T|||||| 22 24204278 . C T . . ANN=T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|1/12|c.22-13C>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|2/12|c.22-13C>T||||||,T|upstream_gene_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding||c.-1C>T|||||97|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|2/12|c.43-13C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|1/11|c.22-13C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000403208|protein_coding|1/3|c.22-13C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405847|protein_coding|1/4|c.22-13C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript|2/8|n.158-13C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript|2/7|n.153-13C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|1/10|n.22-13C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|1/8|n.36-13C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000440493|processed_transcript|2/3|n.142-13C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473740|retained_intron|1/3|n.533-13C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000492516|retained_intron|1/1|n.197-13C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000423972|nonsense_mediated_decay|1/4|n.43-13C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000418102|nonsense_mediated_decay|1/4|n.43-13C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000491948|retained_intron|1/2|n.156-13C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000436643|nonsense_mediated_decay|1/4|n.31-13C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|1/11|n.22-13C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|1/8|n.70-13C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|1/11|c.31-13C>T|||||| 22 24204293 . TCAGGG T . . ANN=|frameshift_variant|HIGH|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|3/13|c.50_54delGCAGG|p.Gly17fs|239/2388|50/1512|17/503||INFO_REALIGN_3_PRIME,|frameshift_variant|HIGH|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|2/12|c.29_33delGCAGG|p.Gly10fs|297/3219|29/1491|10/496||INFO_REALIGN_3_PRIME,|frameshift_variant|HIGH|SLC2A11|ENSG00000133460|transcript|ENST00000403208|protein_coding|2/4|c.29_33delGCAGG|p.Gly10fs|137/564|29/315|10/104||INFO_REALIGN_3_PRIME,|frameshift_variant|HIGH|SLC2A11|ENSG00000133460|transcript|ENST00000405847|protein_coding|2/5|c.29_33delGCAGG|p.Gly10fs|66/730|29/540|10/179||INFO_REALIGN_3_PRIME,|frameshift_variant|HIGH|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|2/12|c.38_42delGCAGG|p.Gly13fs|75/1555|38/1500|13/499||INFO_REALIGN_3_PRIME,|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|1/12|c.25_29delCAGGG||||||,|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|2/12|c.25_29delCAGGG||||||,|upstream_gene_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding||c.-1_-1delCAGGG|||||81|WARNING_TRANSCRIPT_NO_START_CODON,|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript|3/9|n.165_169delGCAGG||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript|3/8|n.160_164delGCAGG||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|2/11|n.29_33delGCAGG||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|2/9|n.43_47delGCAGG||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000440493|processed_transcript|3/4|n.149_153delGCAGG||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473740|retained_intron|2/4|n.540_544delGCAGG||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000492516|retained_intron|2/2|n.204_208delGCAGG||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000423972|nonsense_mediated_decay|2/5|n.50_54delGCAGG||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000418102|nonsense_mediated_decay|2/5|n.50_54delGCAGG||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000491948|retained_intron|2/3|n.163_167delGCAGG||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000436643|nonsense_mediated_decay|2/5|n.38_42delGCAGG||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|2/12|n.29_33delGCAGG||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|2/9|n.77_81delGCAGG||||||INFO_REALIGN_3_PRIME;LOF=(SLC2A11|ENSG00000133460|22|0.09) 22 24204310 . T A . . ANN=A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|3/13|c.62T>A|p.Leu21His|251/2388|62/1512|21/503||,A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|2/12|c.41T>A|p.Leu14His|309/3219|41/1491|14/496||,A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000403208|protein_coding|2/4|c.41T>A|p.Leu14His|149/564|41/315|14/104||,A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000405847|protein_coding|2/5|c.41T>A|p.Leu14His|78/730|41/540|14/179||,A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|2/12|c.50T>A|p.Leu17His|87/1555|50/1500|17/499||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000398356|protein_coding|3/13|c.62T>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000345044|protein_coding|2/12|c.41T>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000316185|protein_coding|2/12|c.50T>A||||||,A|upstream_gene_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding||c.-1T>A|||||65|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript|3/9|n.177T>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript|3/8|n.172T>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|2/11|n.41T>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|2/9|n.55T>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000440493|processed_transcript|3/4|n.161T>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473740|retained_intron|2/4|n.552T>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000492516|retained_intron|2/2|n.216T>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000423972|nonsense_mediated_decay|2/5|n.62T>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000418102|nonsense_mediated_decay|2/5|n.62T>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000491948|retained_intron|2/3|n.175T>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000436643|nonsense_mediated_decay|2/5|n.50T>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|2/12|n.41T>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|2/9|n.89T>A|||||| 22 24204322 . GC G . . ANN=|frameshift_variant|HIGH|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|3/13|c.75delC|p.Cys25fs|264/2388|75/1512|25/503||,|frameshift_variant|HIGH|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|2/12|c.54delC|p.Cys18fs|322/3219|54/1491|18/496||,|frameshift_variant|HIGH|SLC2A11|ENSG00000133460|transcript|ENST00000403208|protein_coding|2/4|c.54delC|p.Cys18fs|162/564|54/315|18/104||,|frameshift_variant|HIGH|SLC2A11|ENSG00000133460|transcript|ENST00000405847|protein_coding|2/5|c.54delC|p.Cys18fs|91/730|54/540|18/179||,|frameshift_variant|HIGH|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|2/12|c.63delC|p.Cys21fs|100/1555|63/1500|21/499||,|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000398356|protein_coding|3/13|c.75delC||||||,|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000345044|protein_coding|2/12|c.54delC||||||,|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000316185|protein_coding|2/12|c.63delC||||||,|upstream_gene_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding||c.-1delC|||||52|WARNING_TRANSCRIPT_NO_START_CODON,|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript|3/9|n.190delC||||||,|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript|3/8|n.185delC||||||,|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|2/11|n.54delC||||||,|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|2/9|n.68delC||||||,|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000440493|processed_transcript|3/4|n.174delC||||||,|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473740|retained_intron|2/4|n.565delC||||||,|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000492516|retained_intron|2/2|n.229delC||||||,|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000423972|nonsense_mediated_decay|2/5|n.75delC||||||,|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000418102|nonsense_mediated_decay|2/5|n.75delC||||||,|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000491948|retained_intron|2/3|n.188delC||||||,|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000436643|nonsense_mediated_decay|2/5|n.63delC||||||,|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|2/12|n.54delC||||||,|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|2/9|n.102delC||||||;LOF=(SLC2A11|ENSG00000133460|22|0.09) 22 24204382 . C T . . ANN=T|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|3/13|c.134C>T|p.Pro45Leu|323/2388|134/1512|45/503||,T|missense_variant|MODERATE|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|1/6|c.8C>T|p.Pro3Leu|8/788|8/630|3/209||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|2/12|c.113C>T|p.Pro38Leu|381/3219|113/1491|38/496||,T|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000403208|protein_coding|2/4|c.113C>T|p.Pro38Leu|221/564|113/315|38/104||,T|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000405847|protein_coding|2/5|c.113C>T|p.Pro38Leu|150/730|113/540|38/179||,T|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|2/12|c.122C>T|p.Pro41Leu|159/1555|122/1500|41/499||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000398356|protein_coding|4/13|c.134C>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000398356|protein_coding|3/13|c.134C>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000345044|protein_coding|2/12|c.113C>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000345044|protein_coding|3/12|c.113C>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000316185|protein_coding|2/12|c.122C>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000316185|protein_coding|3/12|c.122C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript|3/9|n.249C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript|3/8|n.244C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|2/11|n.113C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|2/9|n.127C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000440493|processed_transcript|3/4|n.233C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473740|retained_intron|2/4|n.624C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000492516|retained_intron|2/2|n.288C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000423972|nonsense_mediated_decay|2/5|n.134C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000418102|nonsense_mediated_decay|2/5|n.134C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000491948|retained_intron|2/3|n.247C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000436643|nonsense_mediated_decay|2/5|n.122C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|2/12|n.113C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|2/9|n.161C>T|||||| 22 24204383 . G A . . ANN=A|synonymous_variant|LOW|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|3/13|c.135G>A|p.Pro45Pro|324/2388|135/1512|45/503||,A|synonymous_variant|LOW|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|1/6|c.9G>A|p.Pro3Pro|9/788|9/630|3/209||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|2/12|c.114G>A|p.Pro38Pro|382/3219|114/1491|38/496||,A|synonymous_variant|LOW|SLC2A11|ENSG00000133460|transcript|ENST00000403208|protein_coding|2/4|c.114G>A|p.Pro38Pro|222/564|114/315|38/104||,A|synonymous_variant|LOW|SLC2A11|ENSG00000133460|transcript|ENST00000405847|protein_coding|2/5|c.114G>A|p.Pro38Pro|151/730|114/540|38/179||,A|synonymous_variant|LOW|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|2/12|c.123G>A|p.Pro41Pro|160/1555|123/1500|41/499||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000398356|protein_coding|4/13|c.135G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000398356|protein_coding|3/13|c.135G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000345044|protein_coding|2/12|c.114G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000345044|protein_coding|3/12|c.114G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000316185|protein_coding|2/12|c.123G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000316185|protein_coding|3/12|c.123G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript|3/9|n.250G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript|3/8|n.245G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|2/11|n.114G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|2/9|n.128G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000440493|processed_transcript|3/4|n.234G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473740|retained_intron|2/4|n.625G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000492516|retained_intron|2/2|n.289G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000423972|nonsense_mediated_decay|2/5|n.135G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000418102|nonsense_mediated_decay|2/5|n.135G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000491948|retained_intron|2/3|n.248G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000436643|nonsense_mediated_decay|2/5|n.123G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|2/12|n.114G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|2/9|n.162G>A|||||| 22 24204422 . G C . . ANN=C|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000398356|protein_coding|4/13|c.141+33G>C||||||,C|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000398356|protein_coding|3/13|c.141+33G>C||||||,C|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000345044|protein_coding|2/12|c.120+33G>C||||||,C|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000345044|protein_coding|3/12|c.120+33G>C||||||,C|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000316185|protein_coding|2/12|c.129+33G>C||||||,C|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000316185|protein_coding|3/12|c.129+33G>C||||||,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|3/12|c.141+33G>C||||||,C|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|1/5|c.15+33G>C||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|2/11|c.120+33G>C||||||,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000403208|protein_coding|2/3|c.120+33G>C||||||,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405847|protein_coding|2/4|c.120+33G>C||||||,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript|3/8|n.256+33G>C||||||,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript|3/7|n.251+33G>C||||||,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|2/10|n.120+33G>C||||||,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|2/8|n.134+33G>C||||||,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000440493|processed_transcript|3/3|n.240+33G>C||||||,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473740|retained_intron|2/3|n.631+33G>C||||||,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000423972|nonsense_mediated_decay|2/4|n.141+33G>C||||||,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000418102|nonsense_mediated_decay|2/4|n.141+33G>C||||||,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000491948|retained_intron|2/2|n.254+33G>C||||||,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000436643|nonsense_mediated_decay|2/4|n.129+33G>C||||||,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|2/11|n.120+33G>C||||||,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|2/8|n.168+33G>C||||||,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|2/11|c.129+33G>C||||||,C|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000492516|retained_intron|2/2|n.328G>C|||||| 22 24204438 . G T . . ANN=T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000398356|protein_coding|4/13|c.141+49G>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000398356|protein_coding|3/13|c.141+49G>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000345044|protein_coding|2/12|c.120+49G>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000345044|protein_coding|3/12|c.120+49G>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000316185|protein_coding|2/12|c.129+49G>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000316185|protein_coding|3/12|c.129+49G>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|3/12|c.141+49G>T||||||,T|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|1/5|c.15+49G>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|2/11|c.120+49G>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000403208|protein_coding|2/3|c.120+49G>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405847|protein_coding|2/4|c.120+49G>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript|3/8|n.256+49G>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript|3/7|n.251+49G>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|2/10|n.120+49G>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|2/8|n.134+49G>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000440493|processed_transcript|3/3|n.240+49G>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473740|retained_intron|2/3|n.631+49G>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000423972|nonsense_mediated_decay|2/4|n.141+49G>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000418102|nonsense_mediated_decay|2/4|n.141+49G>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000491948|retained_intron|2/2|n.254+49G>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000436643|nonsense_mediated_decay|2/4|n.129+49G>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|2/11|n.120+49G>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|2/8|n.168+49G>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|2/11|c.129+49G>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000492516|retained_intron|2/2|n.344G>T|||||| 22 24210626 . C T . . ANN=T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000398356|protein_coding|4/13|c.142-42C>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000398356|protein_coding|3/13|c.142-42C>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000345044|protein_coding|2/12|c.121-42C>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000345044|protein_coding|3/12|c.121-42C>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000316185|protein_coding|2/12|c.130-42C>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000316185|protein_coding|3/12|c.130-42C>T||||||,T|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000440493|processed_transcript||n.*624C>T|||||1633|,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|3/12|c.142-42C>T||||||,T|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|1/5|c.16-42C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|2/11|c.121-42C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000403208|protein_coding|2/3|c.121-42C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405847|protein_coding|2/4|c.121-42C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript|3/8|n.257-42C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript|3/7|n.252-42C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|2/10|n.121-42C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|2/8|n.135-42C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473740|retained_intron|2/3|n.632-42C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000423972|nonsense_mediated_decay|2/4|n.142-42C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000418102|nonsense_mediated_decay|3/4|n.*160-42C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000491948|retained_intron|2/2|n.255-42C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000436643|nonsense_mediated_decay|2/4|n.130-42C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|2/11|n.121-42C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|2/8|n.169-42C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|2/11|c.130-42C>T|||||| 22 24210694 . A G . . ANN=G|synonymous_variant|LOW|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|4/13|c.168A>G|p.Thr56Thr|357/2388|168/1512|56/503||,G|synonymous_variant|LOW|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|2/6|c.42A>G|p.Thr14Thr|42/788|42/630|14/209||WARNING_TRANSCRIPT_NO_START_CODON,G|synonymous_variant|LOW|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|3/12|c.147A>G|p.Thr49Thr|415/3219|147/1491|49/496||,G|synonymous_variant|LOW|SLC2A11|ENSG00000133460|transcript|ENST00000403208|protein_coding|3/4|c.147A>G|p.Thr49Thr|255/564|147/315|49/104||,G|synonymous_variant|LOW|SLC2A11|ENSG00000133460|transcript|ENST00000405847|protein_coding|3/5|c.147A>G|p.Thr49Thr|184/730|147/540|49/179||,G|synonymous_variant|LOW|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|3/12|c.156A>G|p.Thr52Thr|193/1555|156/1500|52/499||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000398356|protein_coding|4/13|c.168A>G||||||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000398356|protein_coding|3/13|c.168A>G||||||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000345044|protein_coding|2/12|c.147A>G||||||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000345044|protein_coding|3/12|c.147A>G||||||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000316185|protein_coding|2/12|c.156A>G||||||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000316185|protein_coding|3/12|c.156A>G||||||,G|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000418102|nonsense_mediated_decay|4/5|n.*186A>G|||||767|,G|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000440493|processed_transcript||n.*624A>G|||||1701|,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript|4/9|n.283A>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript|4/8|n.278A>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|3/11|n.147A>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|3/9|n.161A>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473740|retained_intron|3/4|n.658A>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000423972|nonsense_mediated_decay|3/5|n.168A>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000418102|nonsense_mediated_decay|4/5|n.*186A>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000491948|retained_intron|3/3|n.281A>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000436643|nonsense_mediated_decay|3/5|n.156A>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|3/12|n.147A>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|3/9|n.195A>G|||||| 22 24210725 . G A . . ANN=A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|4/13|c.199G>A|p.Asp67Asn|388/2388|199/1512|67/503||,A|missense_variant|MODERATE|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|2/6|c.73G>A|p.Asp25Asn|73/788|73/630|25/209||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|3/12|c.178G>A|p.Asp60Asn|446/3219|178/1491|60/496||,A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000403208|protein_coding|3/4|c.178G>A|p.Asp60Asn|286/564|178/315|60/104||,A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000405847|protein_coding|3/5|c.178G>A|p.Asp60Asn|215/730|178/540|60/179||,A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|3/12|c.187G>A|p.Asp63Asn|224/1555|187/1500|63/499||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000398356|protein_coding|4/13|c.199G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000398356|protein_coding|3/13|c.199G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000345044|protein_coding|2/12|c.178G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000345044|protein_coding|3/12|c.178G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000316185|protein_coding|2/12|c.187G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000316185|protein_coding|3/12|c.187G>A||||||,A|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000418102|nonsense_mediated_decay|4/5|n.*217G>A|||||798|,A|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000440493|processed_transcript||n.*624G>A|||||1732|,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript|4/9|n.314G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript|4/8|n.309G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|3/11|n.178G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|3/9|n.192G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473740|retained_intron|3/4|n.689G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000423972|nonsense_mediated_decay|3/5|n.199G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000418102|nonsense_mediated_decay|4/5|n.*217G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000491948|retained_intron|3/3|n.312G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000436643|nonsense_mediated_decay|3/5|n.187G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|3/12|n.178G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|3/9|n.226G>A|||||| 22 24210736 . C T . . ANN=T|synonymous_variant|LOW|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|4/13|c.210C>T|p.Val70Val|399/2388|210/1512|70/503||,T|synonymous_variant|LOW|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|2/6|c.84C>T|p.Val28Val|84/788|84/630|28/209||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|3/12|c.189C>T|p.Val63Val|457/3219|189/1491|63/496||,T|synonymous_variant|LOW|SLC2A11|ENSG00000133460|transcript|ENST00000403208|protein_coding|3/4|c.189C>T|p.Val63Val|297/564|189/315|63/104||,T|synonymous_variant|LOW|SLC2A11|ENSG00000133460|transcript|ENST00000405847|protein_coding|3/5|c.189C>T|p.Val63Val|226/730|189/540|63/179||,T|synonymous_variant|LOW|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|3/12|c.198C>T|p.Val66Val|235/1555|198/1500|66/499||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000398356|protein_coding|4/13|c.210C>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000345044|protein_coding|3/12|c.189C>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000316185|protein_coding|3/12|c.198C>T||||||,T|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000418102|nonsense_mediated_decay|4/5|n.*228C>T|||||809|,T|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000440493|processed_transcript||n.*624C>T|||||1743|,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript|4/9|n.325C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript|4/8|n.320C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|3/11|n.189C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|3/9|n.203C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473740|retained_intron|3/4|n.700C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000423972|nonsense_mediated_decay|3/5|n.210C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000418102|nonsense_mediated_decay|4/5|n.*228C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000491948|retained_intron|3/3|n.323C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000436643|nonsense_mediated_decay|3/5|n.198C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|3/12|n.189C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|3/9|n.237C>T|||||| 22 24210816 . T C . . ANN=C|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|4/13|c.290T>C|p.Ile97Thr|479/2388|290/1512|97/503||,C|missense_variant|MODERATE|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|2/6|c.164T>C|p.Ile55Thr|164/788|164/630|55/209||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|3/12|c.269T>C|p.Ile90Thr|537/3219|269/1491|90/496||,C|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000403208|protein_coding|3/4|c.269T>C|p.Ile90Thr|377/564|269/315|90/104||,C|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000405847|protein_coding|3/5|c.269T>C|p.Ile90Thr|306/730|269/540|90/179||,C|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|3/12|c.278T>C|p.Ile93Thr|315/1555|278/1500|93/499||,C|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000398356|protein_coding|4/13|c.290T>C||||||,C|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000398356|protein_coding|5/13|c.290T>C||||||,C|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|4/12|c.269T>C||||||,C|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|3/12|c.269T>C||||||,C|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000316185|protein_coding|4/12|c.278T>C||||||,C|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000316185|protein_coding|3/12|c.278T>C||||||,C|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000418102|nonsense_mediated_decay|4/5|n.*308T>C|||||889|,C|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000440493|processed_transcript||n.*624T>C|||||1823|,C|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript|4/9|n.405T>C||||||,C|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript|4/8|n.400T>C||||||,C|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|3/11|n.269T>C||||||,C|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|3/9|n.283T>C||||||,C|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473740|retained_intron|3/4|n.780T>C||||||,C|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000423972|nonsense_mediated_decay|3/5|n.290T>C||||||,C|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000418102|nonsense_mediated_decay|4/5|n.*308T>C||||||,C|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000491948|retained_intron|3/3|n.403T>C||||||,C|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000436643|nonsense_mediated_decay|3/5|n.278T>C||||||,C|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|3/12|n.269T>C||||||,C|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|3/9|n.317T>C|||||| 22 24210822 . T G . . ANN=G|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|4/13|c.296T>G|p.Leu99Arg|485/2388|296/1512|99/503||,G|missense_variant|MODERATE|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|2/6|c.170T>G|p.Leu57Arg|170/788|170/630|57/209||WARNING_TRANSCRIPT_NO_START_CODON,G|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|3/12|c.275T>G|p.Leu92Arg|543/3219|275/1491|92/496||,G|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000403208|protein_coding|3/4|c.275T>G|p.Leu92Arg|383/564|275/315|92/104||,G|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000405847|protein_coding|3/5|c.275T>G|p.Leu92Arg|312/730|275/540|92/179||,G|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|3/12|c.284T>G|p.Leu95Arg|321/1555|284/1500|95/499||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000398356|protein_coding|4/13|c.296T>G||||||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000398356|protein_coding|5/13|c.296T>G||||||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|4/12|c.275T>G||||||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|3/12|c.275T>G||||||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000316185|protein_coding|4/12|c.284T>G||||||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000316185|protein_coding|3/12|c.284T>G||||||,G|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000418102|nonsense_mediated_decay|4/5|n.*314T>G|||||895|,G|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000440493|processed_transcript||n.*624T>G|||||1829|,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript|4/9|n.411T>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript|4/8|n.406T>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|3/11|n.275T>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|3/9|n.289T>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473740|retained_intron|3/4|n.786T>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000423972|nonsense_mediated_decay|3/5|n.296T>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000418102|nonsense_mediated_decay|4/5|n.*314T>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000491948|retained_intron|3/3|n.409T>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000436643|nonsense_mediated_decay|3/5|n.284T>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|3/12|n.275T>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|3/9|n.323T>G|||||| 22 24210844 . A G . . ANN=G|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000398356|protein_coding|4/13|c.302+16A>G||||||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000398356|protein_coding|5/13|c.302+16A>G||||||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|4/12|c.281+16A>G||||||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|3/12|c.281+16A>G||||||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000316185|protein_coding|4/12|c.290+16A>G||||||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000316185|protein_coding|3/12|c.290+16A>G||||||,G|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000440493|processed_transcript||n.*624A>G|||||1851|,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|4/12|c.302+16A>G||||||,G|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|2/5|c.176+16A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|3/11|c.281+16A>G||||||,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000403208|protein_coding|3/3|c.281+16A>G||||||,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405847|protein_coding|3/4|c.281+16A>G||||||,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript|4/8|n.417+16A>G||||||,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript|4/7|n.412+16A>G||||||,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|3/10|n.281+16A>G||||||,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|3/8|n.295+16A>G||||||,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473740|retained_intron|3/3|n.792+16A>G||||||,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000423972|nonsense_mediated_decay|3/4|n.302+16A>G||||||,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000418102|nonsense_mediated_decay|4/4|n.*320+16A>G||||||,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000436643|nonsense_mediated_decay|3/4|n.290+16A>G||||||,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|3/11|n.281+16A>G||||||,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|3/8|n.329+16A>G||||||,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|3/11|c.290+16A>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000491948|retained_intron|3/3|n.431A>G|||||| 22 24217275 . C T . . ANN=T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000398356|protein_coding|4/13|c.303-29C>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000398356|protein_coding|5/13|c.303-29C>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|4/12|c.282-29C>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|3/12|c.282-29C>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000316185|protein_coding|4/12|c.291-29C>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000316185|protein_coding|3/12|c.291-29C>T||||||,T|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000482576|processed_transcript||n.-1C>T|||||72|,T|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000472526|processed_transcript||n.-1C>T|||||2770|,T|downstream_gene_variant|MODIFIER|RN7SL268P|ENSG00000244425|transcript|ENST00000491172|misc_RNA||n.*296G>A|||||4407|,T|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000403208|protein_coding||c.*423C>T|||||4906|,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|4/12|c.303-29C>T||||||,T|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|2/5|c.177-29C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|3/11|c.282-29C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405847|protein_coding|3/4|c.282-29C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript|4/8|n.418-29C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript|4/7|n.413-29C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|3/10|n.282-33C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|3/8|n.296-33C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473740|retained_intron|3/3|n.793-29C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000423972|nonsense_mediated_decay|3/4|n.303-33C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000418102|nonsense_mediated_decay|4/4|n.*321-29C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|3/11|n.282-29C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|3/8|n.330-29C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|3/11|c.291-29C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000436643|nonsense_mediated_decay|4/5|n.294C>T|||||| 22 24217449 . A G . . ANN=G|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000398356|protein_coding|6/13|c.427+21A>G||||||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000398356|protein_coding|5/13|c.427+21A>G||||||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000345044|protein_coding|4/12|c.406+21A>G||||||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000345044|protein_coding|5/12|c.406+21A>G||||||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000316185|protein_coding|4/12|c.415+21A>G||||||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000316185|protein_coding|5/12|c.415+21A>G||||||,G|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000472526|processed_transcript||n.-1A>G|||||2596|,G|downstream_gene_variant|MODIFIER|RN7SL268P|ENSG00000244425|transcript|ENST00000491172|misc_RNA||n.*296T>C|||||4233|,G|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473740|retained_intron||n.*887A>G|||||51|,G|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000418102|nonsense_mediated_decay||n.*166A>G|||||73|,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|5/12|c.427+21A>G||||||,G|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|3/5|c.301+21A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|4/11|c.406+21A>G||||||,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405847|protein_coding|4/4|c.406+21A>G||||||,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript|5/8|n.542+21A>G||||||,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript|5/7|n.537+21A>G||||||,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|4/10|n.*105+21A>G||||||,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|4/8|n.416+21A>G||||||,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000423972|nonsense_mediated_decay|4/4|n.*105+21A>G||||||,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000436643|nonsense_mediated_decay|4/4|n.*105+21A>G||||||,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|4/11|n.406+21A>G||||||,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|4/8|n.454+21A>G||||||,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|4/11|c.415+21A>G||||||,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000482576|processed_transcript|1/3|n.82+21A>G|||||| 22 24219200 . T C . . ANN=C|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000398356|protein_coding|6/13|c.428-29T>C||||||,C|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000398356|protein_coding|5/13|c.428-29T>C||||||,C|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000345044|protein_coding|4/12|c.407-29T>C||||||,C|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000345044|protein_coding|5/12|c.407-29T>C||||||,C|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000316185|protein_coding|4/12|c.416-29T>C||||||,C|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000316185|protein_coding|5/12|c.416-29T>C||||||,C|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000472526|processed_transcript||n.-1T>C|||||845|,C|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473357|retained_intron||n.-1T>C|||||3396|,C|downstream_gene_variant|MODIFIER|RN7SL268P|ENSG00000244425|transcript|ENST00000491172|misc_RNA||n.*296A>G|||||2482|,C|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473740|retained_intron||n.*887T>C|||||1802|,C|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000418102|nonsense_mediated_decay||n.*166T>C|||||1824|,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|5/12|c.428-29T>C||||||,C|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|3/5|c.302-29T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|4/11|c.407-29T>C||||||,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405847|protein_coding|4/4|c.407-29T>C||||||,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript|5/8|n.543-29T>C||||||,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript|5/7|n.538-29T>C||||||,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|4/10|n.*106-29T>C||||||,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|4/8|n.417-29T>C||||||,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000423972|nonsense_mediated_decay|4/4|n.*106-29T>C||||||,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000436643|nonsense_mediated_decay|4/4|n.*106-29T>C||||||,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|4/11|n.407-29T>C||||||,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|4/8|n.455-29T>C||||||,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|4/11|c.416-29T>C||||||,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000482576|processed_transcript|1/3|n.83-29T>C|||||| 22 24219233 . G A . . ANN=A|synonymous_variant|LOW|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|6/13|c.432G>A|p.Val144Val|621/2388|432/1512|144/503||,A|synonymous_variant|LOW|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|4/6|c.306G>A|p.Val102Val|306/788|306/630|102/209||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|5/12|c.411G>A|p.Val137Val|679/3219|411/1491|137/496||,A|synonymous_variant|LOW|SLC2A11|ENSG00000133460|transcript|ENST00000405847|protein_coding|5/5|c.411G>A|p.Val137Val|448/730|411/540|137/179||,A|synonymous_variant|LOW|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|5/12|c.420G>A|p.Val140Val|457/1555|420/1500|140/499||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000398356|protein_coding|6/13|c.432G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000398356|protein_coding|5/13|c.432G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000345044|protein_coding|4/12|c.411G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000345044|protein_coding|5/12|c.411G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000316185|protein_coding|4/12|c.420G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000316185|protein_coding|5/12|c.420G>A||||||,A|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|5/11|n.*110G>A|||||1910|,A|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000423972|nonsense_mediated_decay|5/5|n.*110G>A|||||1910|,A|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000436643|nonsense_mediated_decay|5/5|n.*110G>A|||||1910|,A|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000472526|processed_transcript||n.-1G>A|||||812|,A|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473357|retained_intron||n.-1G>A|||||3363|,A|downstream_gene_variant|MODIFIER|RN7SL268P|ENSG00000244425|transcript|ENST00000491172|misc_RNA||n.*296C>T|||||2449|,A|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473740|retained_intron||n.*887G>A|||||1835|,A|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000418102|nonsense_mediated_decay||n.*166G>A|||||1857|,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript|6/9|n.547G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript|6/8|n.542G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|5/11|n.*110G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|5/9|n.421G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000423972|nonsense_mediated_decay|5/5|n.*110G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000436643|nonsense_mediated_decay|5/5|n.*110G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|5/12|n.411G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|5/9|n.459G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000482576|processed_transcript|2/4|n.87G>A|||||| 22 24219864 . C G . . ANN=G|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000398356|protein_coding|6/13|c.558-44C>G||||||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000398356|protein_coding|7/13|c.558-44C>G||||||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000345044|protein_coding|5/12|c.537-44C>G||||||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000345044|protein_coding|6/12|c.537-44C>G||||||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000316185|protein_coding|5/12|c.546-44C>G||||||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000316185|protein_coding|6/12|c.546-44C>G||||||,G|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|6/12|n.*160C>G|||||160|,G|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000472526|processed_transcript||n.-1C>G|||||181|,G|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473357|retained_intron||n.-1C>G|||||2732|,G|downstream_gene_variant|MODIFIER|RN7SL268P|ENSG00000244425|transcript|ENST00000491172|misc_RNA||n.*296G>C|||||1818|,G|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405847|protein_coding||c.*577C>G|||||349|,G|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473740|retained_intron||n.*887C>G|||||2466|,G|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000423972|nonsense_mediated_decay||n.*391C>G|||||390|,G|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000418102|nonsense_mediated_decay||n.*166C>G|||||2488|,G|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000436643|nonsense_mediated_decay||n.*447C>G|||||505|,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|6/12|c.558-44C>G||||||,G|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|4/5|c.431+506C>G||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|5/11|c.537-44C>G||||||,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript|6/8|n.673-44C>G||||||,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript|6/7|n.667+506C>G||||||,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|5/10|n.*235+506C>G||||||,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|5/8|n.546+506C>G||||||,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|5/8|n.584+506C>G||||||,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|5/11|c.546-44C>G||||||,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000482576|processed_transcript|2/3|n.212+506C>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|6/12|n.*160C>G|||||| 22 24220011 . C T . . ANN=T|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|7/13|c.661C>T|p.Arg221Cys|850/2388|661/1512|221/503||,T|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|6/12|c.640C>T|p.Arg214Cys|908/3219|640/1491|214/496||,T|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|6/12|c.649C>T|p.Arg217Cys|686/1555|649/1500|217/499||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000398356|protein_coding|7/13|c.661C>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000398356|protein_coding|8/13|c.661C>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|7/12|c.640C>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|6/12|c.640C>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000316185|protein_coding|7/12|c.649C>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000316185|protein_coding|6/12|c.649C>T||||||,T|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|6/12|n.*307C>T|||||307|,T|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000472526|processed_transcript||n.-1C>T|||||34|,T|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473357|retained_intron||n.-1C>T|||||2585|,T|downstream_gene_variant|MODIFIER|RN7SL268P|ENSG00000244425|transcript|ENST00000491172|misc_RNA||n.*296G>A|||||1671|,T|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405847|protein_coding||c.*577C>T|||||496|,T|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473740|retained_intron||n.*887C>T|||||2613|,T|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000423972|nonsense_mediated_decay||n.*391C>T|||||537|,T|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000418102|nonsense_mediated_decay||n.*166C>T|||||2635|,T|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000436643|nonsense_mediated_decay||n.*447C>T|||||652|,T|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|4/5|c.431+653C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript|6/7|n.667+653C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|5/10|n.*235+653C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|5/8|n.546+653C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|5/8|n.584+653C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000482576|processed_transcript|2/3|n.212+653C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript|7/9|n.776C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|6/12|n.*307C>T|||||| 22 24220044 . G A . . ANN=A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|7/13|c.694G>A|p.Ala232Thr|883/2388|694/1512|232/503||,A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|6/12|c.673G>A|p.Ala225Thr|941/3219|673/1491|225/496||,A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|6/12|c.682G>A|p.Ala228Thr|719/1555|682/1500|228/499||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000398356|protein_coding|7/13|c.694G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000398356|protein_coding|8/13|c.694G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|7/12|c.673G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|6/12|c.673G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000316185|protein_coding|7/12|c.682G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000316185|protein_coding|6/12|c.682G>A||||||,A|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|6/12|n.*340G>A|||||340|,A|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000472526|processed_transcript||n.-1G>A|||||1|,A|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473357|retained_intron||n.-1G>A|||||2552|,A|downstream_gene_variant|MODIFIER|RN7SL268P|ENSG00000244425|transcript|ENST00000491172|misc_RNA||n.*296C>T|||||1638|,A|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405847|protein_coding||c.*577G>A|||||529|,A|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473740|retained_intron||n.*887G>A|||||2646|,A|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000423972|nonsense_mediated_decay||n.*391G>A|||||570|,A|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000418102|nonsense_mediated_decay||n.*166G>A|||||2668|,A|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000436643|nonsense_mediated_decay||n.*447G>A|||||685|,A|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|4/5|c.431+686G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript|6/7|n.667+686G>A||||||,A|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|5/10|n.*235+686G>A||||||,A|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|5/8|n.546+686G>A||||||,A|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|5/8|n.584+686G>A||||||,A|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000482576|processed_transcript|2/3|n.212+686G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript|7/9|n.809G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|6/12|n.*340G>A|||||| 22 24220053 . G C . . ANN=C|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|7/13|c.703G>C|p.Ala235Pro|892/2388|703/1512|235/503||,C|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|6/12|c.682G>C|p.Ala228Pro|950/3219|682/1491|228/496||,C|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|6/12|c.691G>C|p.Ala231Pro|728/1555|691/1500|231/499||,C|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000398356|protein_coding|7/13|c.703G>C||||||,C|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000398356|protein_coding|8/13|c.703G>C||||||,C|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|7/12|c.682G>C||||||,C|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|6/12|c.682G>C||||||,C|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000316185|protein_coding|7/12|c.691G>C||||||,C|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000316185|protein_coding|6/12|c.691G>C||||||,C|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|6/12|n.*349G>C|||||349|,C|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473357|retained_intron||n.-1G>C|||||2543|,C|downstream_gene_variant|MODIFIER|RN7SL268P|ENSG00000244425|transcript|ENST00000491172|misc_RNA||n.*296C>G|||||1629|,C|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405847|protein_coding||c.*577G>C|||||538|,C|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473740|retained_intron||n.*887G>C|||||2655|,C|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000423972|nonsense_mediated_decay||n.*391G>C|||||579|,C|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000418102|nonsense_mediated_decay||n.*166G>C|||||2677|,C|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000436643|nonsense_mediated_decay||n.*447G>C|||||694|,C|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|4/5|c.431+695G>C||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript|6/7|n.667+695G>C||||||,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|5/10|n.*235+695G>C||||||,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|5/8|n.546+695G>C||||||,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|5/8|n.584+695G>C||||||,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000482576|processed_transcript|2/3|n.212+695G>C||||||,C|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript|7/9|n.818G>C||||||,C|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|6/12|n.*349G>C||||||,C|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000472526|processed_transcript|1/6|n.9G>C|||||| 22 24224654 . C CA . . ANN=A|frameshift_variant|HIGH|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|8/13|c.715_716insA|p.Arg239fs|905/2388|716/1512|239/503||,A|frameshift_variant|HIGH|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|7/12|c.694_695insA|p.Arg232fs|963/3219|695/1491|232/496||,A|frameshift_variant|HIGH|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|7/12|c.703_704insA|p.Arg235fs|741/1555|704/1500|235/499||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000398356|protein_coding|7/13|c.715_716insA||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000398356|protein_coding|8/13|c.715_716insA||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|7/12|c.694_695insA||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|6/12|c.694_695insA||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000316185|protein_coding|7/12|c.703_704insA||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000316185|protein_coding|6/12|c.703_704insA||||||,A|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|6/11|n.*244_*245insA|||||7332|,A|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|7/12|n.*361_*362insA|||||4951|,A|upstream_gene_variant|MODIFIER|RN7SL268P|ENSG00000244425|transcript|ENST00000491172|misc_RNA||n.-1_-1insT|||||2678|,A|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000486907|retained_intron||n.-1_-1insA|||||492|,A|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|4/5|c.431+5296_431+5297insA||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000482576|processed_transcript|2/3|n.213-28_213-27insA||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript|8/9|n.830_831insA||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript|7/8|n.676_677insA||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|6/11|n.*244_*245insA||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|6/9|n.555_556insA||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|7/12|n.*361_*362insA||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|6/9|n.593_594insA||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000472526|processed_transcript|2/6|n.21_22insA||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473357|retained_intron|1/2|n.2059_2060insA||||||;LOF=(SLC2A11|ENSG00000133460|22|0.14) 22 24224655 . G A . . ANN=A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|8/13|c.716G>A|p.Arg239Gln|905/2388|716/1512|239/503||,A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|7/12|c.695G>A|p.Arg232Gln|963/3219|695/1491|232/496||,A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|7/12|c.704G>A|p.Arg235Gln|741/1555|704/1500|235/499||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000398356|protein_coding|7/13|c.716G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000398356|protein_coding|8/13|c.716G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|7/12|c.695G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|6/12|c.695G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000316185|protein_coding|7/12|c.704G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000316185|protein_coding|6/12|c.704G>A||||||,A|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|6/11|n.*245G>A|||||7332|,A|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|7/12|n.*362G>A|||||4951|,A|upstream_gene_variant|MODIFIER|RN7SL268P|ENSG00000244425|transcript|ENST00000491172|misc_RNA||n.-1C>T|||||2678|,A|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000486907|retained_intron||n.-1G>A|||||492|,A|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|4/5|c.431+5297G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000482576|processed_transcript|2/3|n.213-27G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript|8/9|n.831G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript|7/8|n.677G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|6/11|n.*245G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|6/9|n.556G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|7/12|n.*362G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|6/9|n.594G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000472526|processed_transcript|2/6|n.22G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473357|retained_intron|1/2|n.2060G>A|||||| 22 24224659 . C A . . ANN=A|synonymous_variant|LOW|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|8/13|c.720C>A|p.Leu240Leu|909/2388|720/1512|240/503||,A|synonymous_variant|LOW|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|7/12|c.699C>A|p.Leu233Leu|967/3219|699/1491|233/496||,A|synonymous_variant|LOW|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|7/12|c.708C>A|p.Leu236Leu|745/1555|708/1500|236/499||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000398356|protein_coding|7/13|c.720C>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000398356|protein_coding|8/13|c.720C>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|7/12|c.699C>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|6/12|c.699C>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000316185|protein_coding|7/12|c.708C>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000316185|protein_coding|6/12|c.708C>A||||||,A|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|6/11|n.*249C>A|||||7336|,A|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|7/12|n.*366C>A|||||4955|,A|upstream_gene_variant|MODIFIER|RN7SL268P|ENSG00000244425|transcript|ENST00000491172|misc_RNA||n.-1G>T|||||2682|,A|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000486907|retained_intron||n.-1C>A|||||488|,A|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|4/5|c.431+5301C>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000482576|processed_transcript|2/3|n.213-23C>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript|8/9|n.835C>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript|7/8|n.681C>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|6/11|n.*249C>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|6/9|n.560C>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|7/12|n.*366C>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|6/9|n.598C>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000472526|processed_transcript|2/6|n.26C>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473357|retained_intron|1/2|n.2064C>A|||||| 22 24224668 . C T . . ANN=T|synonymous_variant|LOW|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|8/13|c.729C>T|p.Ser243Ser|918/2388|729/1512|243/503||,T|synonymous_variant|LOW|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|7/12|c.708C>T|p.Ser236Ser|976/3219|708/1491|236/496||,T|synonymous_variant|LOW|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|7/12|c.717C>T|p.Ser239Ser|754/1555|717/1500|239/499||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000398356|protein_coding|7/13|c.729C>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000398356|protein_coding|8/13|c.729C>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|7/12|c.708C>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|6/12|c.708C>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000316185|protein_coding|7/12|c.717C>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000316185|protein_coding|6/12|c.717C>T||||||,T|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|6/11|n.*258C>T|||||7345|,T|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|7/12|n.*375C>T|||||4964|,T|upstream_gene_variant|MODIFIER|RN7SL268P|ENSG00000244425|transcript|ENST00000491172|misc_RNA||n.-1G>A|||||2691|,T|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000486907|retained_intron||n.-1C>T|||||479|,T|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|4/5|c.431+5310C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000482576|processed_transcript|2/3|n.213-14C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript|8/9|n.844C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript|7/8|n.690C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|6/11|n.*258C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|6/9|n.569C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|7/12|n.*375C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|6/9|n.607C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000472526|processed_transcript|2/6|n.35C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473357|retained_intron|1/2|n.2073C>T|||||| 22 24224709 . G A . . ANN=A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|8/13|c.770G>A|p.Arg257His|959/2388|770/1512|257/503||,A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|7/12|c.749G>A|p.Arg250His|1017/3219|749/1491|250/496||,A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|7/12|c.758G>A|p.Arg253His|795/1555|758/1500|253/499||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000398356|protein_coding|7/13|c.770G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000398356|protein_coding|8/13|c.770G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|7/12|c.749G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|6/12|c.749G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000316185|protein_coding|7/12|c.758G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000316185|protein_coding|6/12|c.758G>A||||||,A|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|6/11|n.*299G>A|||||7386|,A|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|7/12|n.*416G>A|||||5005|,A|upstream_gene_variant|MODIFIER|RN7SL268P|ENSG00000244425|transcript|ENST00000491172|misc_RNA||n.-1C>T|||||2732|,A|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000486907|retained_intron||n.-1G>A|||||438|,A|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|4/5|c.431+5351G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript|8/9|n.885G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript|7/8|n.731G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|6/11|n.*299G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|6/9|n.610G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|7/12|n.*416G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|6/9|n.648G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000482576|processed_transcript|3/4|n.240G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000472526|processed_transcript|2/6|n.76G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473357|retained_intron|1/2|n.2114G>A|||||| 22 24224736 . G A . . ANN=A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|8/13|c.797G>A|p.Arg266Gln|986/2388|797/1512|266/503||,A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|7/12|c.776G>A|p.Arg259Gln|1044/3219|776/1491|259/496||,A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|7/12|c.785G>A|p.Arg262Gln|822/1555|785/1500|262/499||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000398356|protein_coding|7/13|c.797G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000398356|protein_coding|8/13|c.797G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|7/12|c.776G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|6/12|c.776G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000316185|protein_coding|7/12|c.785G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000316185|protein_coding|6/12|c.785G>A||||||,A|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|6/11|n.*326G>A|||||7413|,A|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|7/12|n.*443G>A|||||5032|,A|upstream_gene_variant|MODIFIER|RN7SL268P|ENSG00000244425|transcript|ENST00000491172|misc_RNA||n.-1C>T|||||2759|,A|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000486907|retained_intron||n.-1G>A|||||411|,A|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|4/5|c.431+5378G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript|8/9|n.912G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript|7/8|n.758G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|6/11|n.*326G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|6/9|n.637G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|7/12|n.*443G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|6/9|n.675G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000482576|processed_transcript|3/4|n.267G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000472526|processed_transcript|2/6|n.103G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473357|retained_intron|1/2|n.2141G>A|||||| 22 24224826 . A G . . ANN=G|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|8/13|c.887A>G|p.Asn296Ser|1076/2388|887/1512|296/503||,G|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|7/12|c.866A>G|p.Asn289Ser|1134/3219|866/1491|289/496||,G|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|7/12|c.875A>G|p.Asn292Ser|912/1555|875/1500|292/499||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000398356|protein_coding|8/13|c.887A>G||||||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000398356|protein_coding|9/13|c.887A>G||||||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000345044|protein_coding|7/12|c.866A>G||||||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000345044|protein_coding|8/12|c.866A>G||||||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000316185|protein_coding|7/12|c.875A>G||||||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000316185|protein_coding|8/12|c.875A>G||||||,G|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|6/11|n.*416A>G|||||7503|,G|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|7/12|n.*533A>G|||||5122|,G|upstream_gene_variant|MODIFIER|RN7SL268P|ENSG00000244425|transcript|ENST00000491172|misc_RNA||n.-1T>C|||||2849|,G|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000486907|retained_intron||n.-1A>G|||||321|,G|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|4/5|c.431+5468A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript|8/9|n.1002A>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript|7/8|n.848A>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|6/11|n.*416A>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|6/9|n.727A>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|7/12|n.*533A>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|6/9|n.765A>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000482576|processed_transcript|3/4|n.357A>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000472526|processed_transcript|2/6|n.193A>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473357|retained_intron|1/2|n.2231A>G|||||| 22 24224973 . C T . . ANN=T|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|9/13|c.922C>T|p.Arg308Trp|1111/2388|922/1512|308/503||,T|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|8/12|c.901C>T|p.Arg301Trp|1169/3219|901/1491|301/496||,T|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|8/12|c.910C>T|p.Arg304Trp|947/1555|910/1500|304/499||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000398356|protein_coding|9/13|c.922C>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000345044|protein_coding|8/12|c.901C>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000316185|protein_coding|8/12|c.910C>T||||||,T|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|7/11|n.*451C>T|||||7650|,T|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|8/12|n.*568C>T|||||5269|,T|upstream_gene_variant|MODIFIER|RN7SL268P|ENSG00000244425|transcript|ENST00000491172|misc_RNA||n.-1G>A|||||2996|,T|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000486907|retained_intron||n.-1C>T|||||174|,T|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|4/5|c.431+5615C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript|9/9|n.1037C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript|8/8|n.883C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|7/11|n.*451C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|7/9|n.762C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|8/12|n.*568C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|7/9|n.800C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000482576|processed_transcript|4/4|n.392C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000472526|processed_transcript|3/6|n.228C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473357|retained_intron|2/2|n.2266C>T|||||| 22 24224974 . G A . . ANN=A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|9/13|c.923G>A|p.Arg308Gln|1112/2388|923/1512|308/503||,A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|8/12|c.902G>A|p.Arg301Gln|1170/3219|902/1491|301/496||,A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|8/12|c.911G>A|p.Arg304Gln|948/1555|911/1500|304/499||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000398356|protein_coding|9/13|c.923G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000345044|protein_coding|8/12|c.902G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000316185|protein_coding|8/12|c.911G>A||||||,A|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|7/11|n.*452G>A|||||7651|,A|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|8/12|n.*569G>A|||||5270|,A|upstream_gene_variant|MODIFIER|RN7SL268P|ENSG00000244425|transcript|ENST00000491172|misc_RNA||n.-1C>T|||||2997|,A|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000486907|retained_intron||n.-1G>A|||||173|,A|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|4/5|c.431+5616G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript|9/9|n.1038G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript|8/8|n.884G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|7/11|n.*452G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|7/9|n.763G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|8/12|n.*569G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|7/9|n.801G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000482576|processed_transcript|4/4|n.393G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000472526|processed_transcript|3/6|n.229G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473357|retained_intron|2/2|n.2267G>A|||||| 22 24225044 . G A . . ANN=A|synonymous_variant|LOW|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|9/13|c.993G>A|p.Thr331Thr|1182/2388|993/1512|331/503||,A|synonymous_variant|LOW|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|8/12|c.972G>A|p.Thr324Thr|1240/3219|972/1491|324/496||,A|synonymous_variant|LOW|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|8/12|c.981G>A|p.Thr327Thr|1018/1555|981/1500|327/499||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000398356|protein_coding|10/13|c.993G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000398356|protein_coding|9/13|c.993G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000345044|protein_coding|8/12|c.972G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000345044|protein_coding|9/12|c.972G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000316185|protein_coding|8/12|c.981G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000316185|protein_coding|9/12|c.981G>A||||||,A|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|7/11|n.*522G>A|||||7721|,A|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|8/12|n.*639G>A|||||5340|,A|upstream_gene_variant|MODIFIER|RN7SL268P|ENSG00000244425|transcript|ENST00000491172|misc_RNA||n.-1C>T|||||3067|,A|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000486907|retained_intron||n.-1G>A|||||103|,A|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|4/5|c.431+5686G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript|9/9|n.1108G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript|8/8|n.954G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|7/11|n.*522G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|7/9|n.833G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|8/12|n.*639G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|7/9|n.871G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000482576|processed_transcript|4/4|n.463G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000472526|processed_transcript|3/6|n.299G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473357|retained_intron|2/2|n.2337G>A|||||| 22 24225971 . G A . . ANN=A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|10/13|c.1018G>A|p.Glu340Lys|1207/2388|1018/1512|340/503||,A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|9/12|c.997G>A|p.Glu333Lys|1265/3219|997/1491|333/496||,A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|9/12|c.1006G>A|p.Glu336Lys|1043/1555|1006/1500|336/499||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000398356|protein_coding|10/13|c.1018G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|9/12|c.997G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000316185|protein_coding|9/12|c.1006G>A||||||,A|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|8/11|n.*547G>A|||||8648|,A|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|9/12|n.*664G>A|||||6267|,A|upstream_gene_variant|MODIFIER|RN7SL268P|ENSG00000244425|transcript|ENST00000491172|misc_RNA||n.-1C>T|||||3994|,A|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript||n.*1203G>A|||||832|,A|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript||n.*1048G>A|||||833|,A|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000482576|processed_transcript||n.*558G>A|||||832|,A|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473357|retained_intron||n.*2787G>A|||||477|,A|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|4/5|c.431+6613G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000472526|processed_transcript|3/5|n.312-165G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|8/11|n.*547G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|8/9|n.858G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|9/12|n.*664G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|7/9|n.1798G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000486907|retained_intron|1/2|n.825G>A|||||| 22 24226131 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|10/12|c.1108-5G>A||||||,A|splice_region_variant&intron_variant|LOW|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|9/11|c.1087-5G>A||||||,A|splice_region_variant&intron_variant|LOW|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|8/10|n.*637-5G>A||||||,A|splice_region_variant&intron_variant|LOW|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|9/11|n.*754-5G>A||||||,A|splice_region_variant&intron_variant|LOW|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|9/11|c.1096-5G>A||||||,A|splice_region_variant&intron_variant|LOW|SLC2A11|ENSG00000133460|transcript|ENST00000472526|processed_transcript|3/5|n.312-5G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000398356|protein_coding|11/13|c.1108-5G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000398356|protein_coding|10/13|c.1108-5G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000345044|protein_coding|10/12|c.1087-5G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000345044|protein_coding|9/12|c.1087-5G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000316185|protein_coding|10/12|c.1096-5G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000316185|protein_coding|9/12|c.1096-5G>A||||||,A|upstream_gene_variant|MODIFIER|RN7SL268P|ENSG00000244425|transcript|ENST00000491172|misc_RNA||n.-1C>T|||||4154|,A|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript||n.*1203G>A|||||992|,A|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript||n.*1048G>A|||||993|,A|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000482576|processed_transcript||n.*558G>A|||||992|,A|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473357|retained_intron||n.*2787G>A|||||637|,A|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|4/5|c.431+6773G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|8/9|n.1018G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|7/9|n.1958G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000486907|retained_intron|1/2|n.985G>A|||||| 22 24226242 . A G . . ANN=G|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000398356|protein_coding|11/13|c.1183+31A>G||||||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000398356|protein_coding|12/13|c.1183+31A>G||||||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|11/12|c.1162+31A>G||||||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|10/12|c.1162+31A>G||||||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000316185|protein_coding|11/12|c.1171+31A>G||||||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000316185|protein_coding|10/12|c.1171+31A>G||||||,G|upstream_gene_variant|MODIFIER|RN7SL268P|ENSG00000244425|transcript|ENST00000491172|misc_RNA||n.-1T>C|||||4265|,G|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript||n.*1203A>G|||||1103|,G|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript||n.*1048A>G|||||1104|,G|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000482576|processed_transcript||n.*558A>G|||||1103|,G|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473357|retained_intron||n.*2787A>G|||||748|,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|11/12|c.1183+31A>G||||||,G|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|4/5|c.431+6884A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|10/11|c.1162+31A>G||||||,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|9/10|n.*712+31A>G||||||,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|10/11|n.*829+31A>G||||||,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|7/8|n.2038+31A>G||||||,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|10/11|c.1171+31A>G||||||,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000472526|processed_transcript|4/5|n.387+31A>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|8/9|n.1129A>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000486907|retained_intron|1/2|n.1096A>G|||||| 22 24226251 . TAGA T . . ANN=|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000398356|protein_coding|11/13|c.1183+41_1183+43delAGA||||||,|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000398356|protein_coding|12/13|c.1183+41_1183+43delAGA||||||,|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|11/12|c.1162+41_1162+43delAGA||||||,|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|10/12|c.1162+41_1162+43delAGA||||||,|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000316185|protein_coding|11/12|c.1171+41_1171+43delAGA||||||,|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000316185|protein_coding|10/12|c.1171+41_1171+43delAGA||||||,|upstream_gene_variant|MODIFIER|RN7SL268P|ENSG00000244425|transcript|ENST00000491172|misc_RNA||n.-1_-1delTCT|||||4275|,|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript||n.*1203_*1203delAGA|||||1113|,|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript||n.*1048_*1048delAGA|||||1114|,|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000482576|processed_transcript||n.*558_*558delAGA|||||1113|,|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473357|retained_intron||n.*2787_*2787delAGA|||||758|,|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|11/12|c.1183+43_1183+45delAAG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|4/5|c.431+6896_431+6898delAAG||||||WARNING_TRANSCRIPT_NO_START_CODON&INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|10/11|c.1162+43_1162+45delAAG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|9/10|n.*712+43_*712+45delAAG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|10/11|n.*829+43_*829+45delAAG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|7/8|n.2038+43_2038+45delAAG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|10/11|c.1171+43_1171+45delAAG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000472526|processed_transcript|4/5|n.387+43_387+45delAAG||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|8/9|n.1141_1143delAAG||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000486907|retained_intron|1/2|n.1108_1110delAAG||||||INFO_REALIGN_3_PRIME 22 24226449 . A G . . ANN=G|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000398356|protein_coding|11/13|c.1184-40A>G||||||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000398356|protein_coding|12/13|c.1184-40A>G||||||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|11/12|c.1163-40A>G||||||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|10/12|c.1163-40A>G||||||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000316185|protein_coding|11/12|c.1172-40A>G||||||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000316185|protein_coding|10/12|c.1172-40A>G||||||,G|upstream_gene_variant|MODIFIER|RN7SL268P|ENSG00000244425|transcript|ENST00000491172|misc_RNA||n.-1T>C|||||4472|,G|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript||n.*1203A>G|||||1310|,G|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript||n.*1048A>G|||||1311|,G|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000482576|processed_transcript||n.*558A>G|||||1310|,G|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473357|retained_intron||n.*2787A>G|||||955|,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|11/12|c.1184-40A>G||||||,G|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|4/5|c.431+7091A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|10/11|c.1163-40A>G||||||,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|9/10|n.*713-40A>G||||||,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|10/11|n.*830-40A>G||||||,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|7/8|n.2039-40A>G||||||,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|10/11|c.1172-40A>G||||||,G|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000472526|processed_transcript|4/5|n.388-40A>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|8/9|n.1336A>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000486907|retained_intron|1/2|n.1303A>G|||||| 22 24226520 . G C . . ANN=C|synonymous_variant|LOW|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|12/13|c.1215G>C|p.Leu405Leu|1404/2388|1215/1512|405/503||,C|synonymous_variant|LOW|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|11/12|c.1194G>C|p.Leu398Leu|1462/3219|1194/1491|398/496||,C|synonymous_variant|LOW|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|11/12|c.1203G>C|p.Leu401Leu|1240/1555|1203/1500|401/499||,C|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000398356|protein_coding|11/13|c.1215G>C||||||,C|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000398356|protein_coding|12/13|c.1215G>C||||||,C|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|11/12|c.1194G>C||||||,C|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|10/12|c.1194G>C||||||,C|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000316185|protein_coding|11/12|c.1203G>C||||||,C|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000316185|protein_coding|10/12|c.1203G>C||||||,C|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|10/11|n.*744G>C|||||9197|,C|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|11/12|n.*861G>C|||||6816|,C|upstream_gene_variant|MODIFIER|RN7SL268P|ENSG00000244425|transcript|ENST00000491172|misc_RNA||n.-1C>G|||||4543|,C|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript||n.*1203G>C|||||1381|,C|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript||n.*1048G>C|||||1382|,C|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000482576|processed_transcript||n.*558G>C|||||1381|,C|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473357|retained_intron||n.*2787G>C|||||1026|,C|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|4/5|c.431+7162G>C||||||WARNING_TRANSCRIPT_NO_START_CODON,C|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|10/11|n.*744G>C||||||,C|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|8/9|n.1407G>C||||||,C|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|11/12|n.*861G>C||||||,C|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|8/9|n.2070G>C||||||,C|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000472526|processed_transcript|5/6|n.419G>C||||||,C|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000486907|retained_intron|1/2|n.1374G>C|||||| 22 24226573 . G A . . ANN=A|stop_gained|HIGH|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|12/13|c.1268G>A|p.Trp423*|1457/2388|1268/1512|423/503||,A|stop_gained|HIGH|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|11/12|c.1247G>A|p.Trp416*|1515/3219|1247/1491|416/496||,A|stop_gained|HIGH|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|11/12|c.1256G>A|p.Trp419*|1293/1555|1256/1500|419/499||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000398356|protein_coding|12/13|c.1268G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000345044|protein_coding|11/12|c.1247G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000316185|protein_coding|11/12|c.1256G>A||||||,A|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|10/11|n.*797G>A|||||9250|,A|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|11/12|n.*914G>A|||||6869|,A|upstream_gene_variant|MODIFIER|RN7SL268P|ENSG00000244425|transcript|ENST00000491172|misc_RNA||n.-1C>T|||||4596|,A|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript||n.*1203G>A|||||1434|,A|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript||n.*1048G>A|||||1435|,A|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000482576|processed_transcript||n.*558G>A|||||1434|,A|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473357|retained_intron||n.*2787G>A|||||1079|,A|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|4/5|c.431+7215G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|10/11|n.*797G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|8/9|n.1460G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|11/12|n.*914G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|8/9|n.2123G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000472526|processed_transcript|5/6|n.472G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000486907|retained_intron|1/2|n.1427G>A|||||| 22 24226584 . A T . . ANN=T|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|12/13|c.1279A>T|p.Ile427Phe|1468/2388|1279/1512|427/503||,T|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|11/12|c.1258A>T|p.Ile420Phe|1526/3219|1258/1491|420/496||,T|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|11/12|c.1267A>T|p.Ile423Phe|1304/1555|1267/1500|423/499||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000398356|protein_coding|12/13|c.1279A>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000345044|protein_coding|11/12|c.1258A>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000316185|protein_coding|11/12|c.1267A>T||||||,T|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|10/11|n.*808A>T|||||9261|,T|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|11/12|n.*925A>T|||||6880|,T|upstream_gene_variant|MODIFIER|RN7SL268P|ENSG00000244425|transcript|ENST00000491172|misc_RNA||n.-1T>A|||||4607|,T|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript||n.*1203A>T|||||1445|,T|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript||n.*1048A>T|||||1446|,T|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000482576|processed_transcript||n.*558A>T|||||1445|,T|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473357|retained_intron||n.*2787A>T|||||1090|,T|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|4/5|c.431+7226A>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|10/11|n.*808A>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|8/9|n.1471A>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|11/12|n.*925A>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|8/9|n.2134A>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000472526|processed_transcript|5/6|n.483A>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000486907|retained_intron|1/2|n.1438A>T|||||| 22 24226620 . G T . . ANN=T|splice_region_variant&intron_variant|LOW|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|12/12|c.1311+4G>T||||||,T|splice_region_variant&intron_variant|LOW|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|11/11|c.1290+4G>T||||||,T|splice_region_variant&intron_variant|LOW|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|10/10|n.*840+4G>T||||||,T|splice_region_variant&intron_variant|LOW|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|8/8|n.1503+4G>T||||||,T|splice_region_variant&intron_variant|LOW|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|11/11|n.*957+4G>T||||||,T|splice_region_variant&intron_variant|LOW|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|8/8|n.2166+4G>T||||||,T|splice_region_variant&intron_variant|LOW|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|11/11|c.1299+4G>T||||||,T|splice_region_variant&intron_variant|LOW|SLC2A11|ENSG00000133460|transcript|ENST00000472526|processed_transcript|5/5|n.515+4G>T||||||,T|splice_region_variant&intron_variant|LOW|SLC2A11|ENSG00000133460|transcript|ENST00000486907|retained_intron|1/1|n.1470+4G>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000398356|protein_coding|13/13|c.1311+4G>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000398356|protein_coding|12/13|c.1311+4G>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000345044|protein_coding|12/12|c.1290+4G>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000345044|protein_coding|11/12|c.1290+4G>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000316185|protein_coding|12/12|c.1299+4G>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000316185|protein_coding|11/12|c.1299+4G>T||||||,T|upstream_gene_variant|MODIFIER|RN7SL268P|ENSG00000244425|transcript|ENST00000491172|misc_RNA||n.-1C>A|||||4643|,T|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript||n.*1203G>T|||||1481|,T|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript||n.*1048G>T|||||1482|,T|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000482576|processed_transcript||n.*558G>T|||||1481|,T|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473357|retained_intron||n.*2787G>T|||||1126|,T|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|4/5|c.431+7262G>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 24226633 . C T . . ANN=T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000398356|protein_coding|13/13|c.1311+17C>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000398356|protein_coding|12/13|c.1311+17C>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000345044|protein_coding|12/12|c.1290+17C>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000345044|protein_coding|11/12|c.1290+17C>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000316185|protein_coding|12/12|c.1299+17C>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000316185|protein_coding|11/12|c.1299+17C>T||||||,T|upstream_gene_variant|MODIFIER|RN7SL268P|ENSG00000244425|transcript|ENST00000491172|misc_RNA||n.-1G>A|||||4656|,T|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript||n.*1203C>T|||||1494|,T|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript||n.*1048C>T|||||1495|,T|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000482576|processed_transcript||n.*558C>T|||||1494|,T|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473357|retained_intron||n.*2787C>T|||||1139|,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|12/12|c.1311+17C>T||||||,T|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|4/5|c.431+7275C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|11/11|c.1290+17C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|10/10|n.*840+17C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|8/8|n.1503+17C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|11/11|n.*957+17C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|8/8|n.2166+17C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|11/11|c.1299+17C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000472526|processed_transcript|5/5|n.515+17C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000486907|retained_intron|1/1|n.1470+17C>T|||||| 22 24226652 . G A . . ANN=A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000398356|protein_coding|13/13|c.1311+36G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000398356|protein_coding|12/13|c.1311+36G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000345044|protein_coding|12/12|c.1290+36G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000345044|protein_coding|11/12|c.1290+36G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000316185|protein_coding|12/12|c.1299+36G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000316185|protein_coding|11/12|c.1299+36G>A||||||,A|upstream_gene_variant|MODIFIER|RN7SL268P|ENSG00000244425|transcript|ENST00000491172|misc_RNA||n.-1C>T|||||4675|,A|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript||n.*1203G>A|||||1513|,A|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript||n.*1048G>A|||||1514|,A|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000482576|processed_transcript||n.*558G>A|||||1513|,A|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473357|retained_intron||n.*2787G>A|||||1158|,A|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|12/12|c.1311+36G>A||||||,A|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|4/5|c.431+7294G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|11/11|c.1290+36G>A||||||,A|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|10/10|n.*840+36G>A||||||,A|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|8/8|n.1503+36G>A||||||,A|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|11/11|n.*957+36G>A||||||,A|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|8/8|n.2166+36G>A||||||,A|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|11/11|c.1299+36G>A||||||,A|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000472526|processed_transcript|5/5|n.515+36G>A||||||,A|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000486907|retained_intron|1/1|n.1470+36G>A|||||| 22 24226801 . A C . . ANN=C|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000398356|protein_coding|13/13|c.1312-35A>C||||||,C|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000398356|protein_coding|12/13|c.1312-35A>C||||||,C|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000345044|protein_coding|12/12|c.1291-35A>C||||||,C|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000345044|protein_coding|11/12|c.1291-35A>C||||||,C|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000316185|protein_coding|12/12|c.1300-35A>C||||||,C|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000316185|protein_coding|11/12|c.1300-35A>C||||||,C|upstream_gene_variant|MODIFIER|RN7SL268P|ENSG00000244425|transcript|ENST00000491172|misc_RNA||n.-1T>G|||||4824|,C|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript||n.*1203A>C|||||1662|,C|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript||n.*1048A>C|||||1663|,C|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000482576|processed_transcript||n.*558A>C|||||1662|,C|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473357|retained_intron||n.*2787A>C|||||1307|,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|12/12|c.1312-35A>C||||||,C|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|4/5|c.431+7443A>C||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|11/11|c.1291-35A>C||||||,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|10/10|n.*841-35A>C||||||,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|8/8|n.1504-35A>C||||||,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|11/11|n.*958-35A>C||||||,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|8/8|n.2167-35A>C||||||,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|11/11|c.1300-35A>C||||||,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000472526|processed_transcript|5/5|n.516-35A>C||||||,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000486907|retained_intron|1/1|n.1471-35A>C|||||| 22 24226890 . G A . . ANN=A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|13/13|c.1366G>A|p.Ala456Thr|1555/2388|1366/1512|456/503||,A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|12/12|c.1345G>A|p.Ala449Thr|1613/3219|1345/1491|449/496||,A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|12/12|c.1354G>A|p.Ala452Thr|1391/1555|1354/1500|452/499||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000398356|protein_coding|13/13|c.1366G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000345044|protein_coding|12/12|c.1345G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000316185|protein_coding|12/12|c.1354G>A||||||,A|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|11/11|n.*895G>A|||||9567|,A|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|12/12|n.*1012G>A|||||7186|,A|upstream_gene_variant|MODIFIER|RN7SL268P|ENSG00000244425|transcript|ENST00000491172|misc_RNA||n.-1C>T|||||4913|,A|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript||n.*1203G>A|||||1751|,A|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript||n.*1048G>A|||||1752|,A|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000482576|processed_transcript||n.*558G>A|||||1751|,A|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473357|retained_intron||n.*2787G>A|||||1396|,A|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|4/5|c.431+7532G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|11/11|n.*895G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|9/9|n.1558G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|12/12|n.*1012G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|9/9|n.2221G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000472526|processed_transcript|6/6|n.570G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000486907|retained_intron|2/2|n.1525G>A|||||| 22 24226950 . A G . . ANN=G|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|13/13|c.1426A>G|p.Lys476Glu|1615/2388|1426/1512|476/503||,G|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|12/12|c.1405A>G|p.Lys469Glu|1673/3219|1405/1491|469/496||,G|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|12/12|c.1414A>G|p.Lys472Glu|1451/1555|1414/1500|472/499||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000398356|protein_coding|13/13|c.1426A>G||||||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|12/12|c.1405A>G||||||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000316185|protein_coding|12/12|c.1414A>G||||||,G|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|11/11|n.*955A>G|||||9627|,G|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|12/12|n.*1072A>G|||||7246|,G|upstream_gene_variant|MODIFIER|RN7SL268P|ENSG00000244425|transcript|ENST00000491172|misc_RNA||n.-1T>C|||||4973|,G|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript||n.*1203A>G|||||1811|,G|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript||n.*1048A>G|||||1812|,G|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000482576|processed_transcript||n.*558A>G|||||1811|,G|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473357|retained_intron||n.*2787A>G|||||1456|,G|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|4/5|c.431+7592A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|11/11|n.*955A>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|9/9|n.1618A>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|12/12|n.*1072A>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|9/9|n.2281A>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000472526|processed_transcript|6/6|n.630A>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000486907|retained_intron|2/2|n.1585A>G|||||| 22 24227053 . A G . . ANN=G|splice_region_variant|LOW|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|12/12|c.*17A>G||||||,G|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|13/13|c.*17A>G|||||17|,G|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|12/12|c.*17A>G|||||17|,G|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|11/11|n.*1058A>G|||||9730|,G|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|12/12|n.*1175A>G|||||7349|,G|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|12/12|c.*17A>G|||||17|,G|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript||n.*1203A>G|||||1914|,G|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript||n.*1048A>G|||||1915|,G|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000482576|processed_transcript||n.*558A>G|||||1914|,G|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000472526|processed_transcript||n.*651A>G|||||82|,G|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473357|retained_intron||n.*2787A>G|||||1559|,G|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|4/5|c.431+7695A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|11/11|n.*1058A>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|9/9|n.1721A>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|12/12|n.*1175A>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|9/9|n.2384A>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000486907|retained_intron|2/2|n.1688A>G|||||| 22 24227054 . G T . . ANN=T|splice_region_variant|LOW|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|12/12|c.*18G>T||||||,T|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|13/13|c.*18G>T|||||18|,T|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|12/12|c.*18G>T|||||18|,T|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|11/11|n.*1059G>T|||||9731|,T|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|12/12|n.*1176G>T|||||7350|,T|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|12/12|c.*18G>T|||||18|,T|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript||n.*1203G>T|||||1915|,T|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript||n.*1048G>T|||||1916|,T|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000482576|processed_transcript||n.*558G>T|||||1915|,T|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000472526|processed_transcript||n.*651G>T|||||83|,T|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473357|retained_intron||n.*2787G>T|||||1560|,T|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|4/5|c.431+7696G>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|11/11|n.*1059G>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|9/9|n.1722G>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|12/12|n.*1176G>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|9/9|n.2385G>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000486907|retained_intron|2/2|n.1689G>T|||||| 22 24227071 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|13/13|c.*35T>C|||||35|,C|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|12/12|c.*35T>C|||||35|,C|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|11/11|n.*1076T>C|||||9748|,C|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|12/12|n.*1193T>C|||||7367|,C|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript||n.*1203T>C|||||1932|,C|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript||n.*1048T>C|||||1933|,C|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding||c.*1537T>C|||||17|,C|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000482576|processed_transcript||n.*558T>C|||||1932|,C|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000472526|processed_transcript||n.*651T>C|||||100|,C|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473357|retained_intron||n.*2787T>C|||||1577|,C|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|4/5|c.431+7713T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,C|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|11/11|n.*1076T>C||||||,C|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|9/9|n.1739T>C||||||,C|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|12/12|n.*1193T>C||||||,C|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|9/9|n.2402T>C||||||,C|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000486907|retained_intron|2/2|n.1706T>C|||||| 22 24236638 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|MIF|ENSG00000240972|transcript|ENST00000215754|protein_coding|1/3|c.-24G>A|||||24|,A|3_prime_UTR_variant|MODIFIER|AP000350.4|ENSG00000218537|transcript|ENST00000406213|protein_coding|3/3|c.*597C>T|||||597|,A|upstream_gene_variant|MODIFIER|MIF|ENSG00000240972|transcript|ENST00000498385|retained_intron||n.-1G>A|||||247|,A|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|4/5|c.432-321G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|MIF|ENSG00000240972|transcript|ENST00000465752|retained_intron|1/2|n.2G>A|||||| 22 24236666 . C G . . ANN=G|missense_variant|MODERATE|MIF|ENSG00000240972|transcript|ENST00000215754|protein_coding|1/3|c.5C>G|p.Pro2Arg|476/939|5/348|2/115||,G|sequence_feature|LOW|MIF|ENSG00000240972|active_site:Proton_acceptor|ENST00000215754|protein_coding|1/3|c.5C>G||||||,G|3_prime_UTR_variant|MODIFIER|AP000350.4|ENSG00000218537|transcript|ENST00000406213|protein_coding|3/3|c.*569G>C|||||569|,G|upstream_gene_variant|MODIFIER|MIF|ENSG00000240972|transcript|ENST00000498385|retained_intron||n.-1C>G|||||219|,G|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|4/5|c.432-293C>G||||||WARNING_TRANSCRIPT_NO_START_CODON,G|non_coding_exon_variant|MODIFIER|MIF|ENSG00000240972|transcript|ENST00000465752|retained_intron|1/2|n.30C>G|||||| 22 24236685 . C T . . ANN=T|synonymous_variant|LOW|MIF|ENSG00000240972|transcript|ENST00000215754|protein_coding|1/3|c.24C>T|p.Thr8Thr|495/939|24/348|8/115||,T|sequence_feature|LOW|MIF|ENSG00000240972|beta_strand|ENST00000215754|protein_coding|1/3|c.24C>T||||||,T|3_prime_UTR_variant|MODIFIER|AP000350.4|ENSG00000218537|transcript|ENST00000406213|protein_coding|3/3|c.*550G>A|||||550|,T|upstream_gene_variant|MODIFIER|MIF|ENSG00000240972|transcript|ENST00000498385|retained_intron||n.-1C>T|||||200|,T|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|4/5|c.432-274C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|MIF|ENSG00000240972|transcript|ENST00000465752|retained_intron|1/2|n.49C>T|||||| 22 24236708 . C T . . ANN=T|missense_variant|MODERATE|MIF|ENSG00000240972|transcript|ENST00000215754|protein_coding|1/3|c.47C>T|p.Pro16Leu|518/939|47/348|16/115||,T|3_prime_UTR_variant|MODIFIER|AP000350.4|ENSG00000218537|transcript|ENST00000406213|protein_coding|3/3|c.*527G>A|||||527|,T|upstream_gene_variant|MODIFIER|MIF|ENSG00000240972|transcript|ENST00000498385|retained_intron||n.-1C>T|||||177|,T|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|4/5|c.432-251C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|MIF|ENSG00000240972|transcript|ENST00000465752|retained_intron|1/2|n.72C>T|||||| 22 24236819 . T C . . ANN=C|sequence_feature|LOW|MIF|ENSG00000240972|helix|ENST00000215754|protein_coding|1/3|c.108+50T>C||||||,C|sequence_feature|LOW|MIF|ENSG00000240972|helix|ENST00000215754|protein_coding|2/3|c.108+50T>C||||||,C|3_prime_UTR_variant|MODIFIER|AP000350.4|ENSG00000218537|transcript|ENST00000406213|protein_coding|3/3|c.*416A>G|||||416|,C|upstream_gene_variant|MODIFIER|MIF|ENSG00000240972|transcript|ENST00000498385|retained_intron||n.-1T>C|||||66|,C|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|4/5|c.432-140T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|MIF|ENSG00000240972|transcript|ENST00000215754|protein_coding|1/2|c.108+50T>C||||||,C|intron_variant|MODIFIER|MIF|ENSG00000240972|transcript|ENST00000465752|retained_intron|1/1|n.133+50T>C|||||| 22 24237108 . G A . . ANN=A|missense_variant|MODERATE|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|5/6|c.581G>A|p.Ser194Asn|581/788|581/630|194/209||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|MIF|ENSG00000240972|transcript|ENST00000215754|protein_coding|2/3|c.258G>A|p.Glu86Glu|729/939|258/348|86/115||,A|sequence_feature|LOW|MIF|ENSG00000240972|helix|ENST00000215754|protein_coding|2/3|c.258G>A||||||,A|3_prime_UTR_variant|MODIFIER|AP000350.4|ENSG00000218537|transcript|ENST00000406213|protein_coding|3/3|c.*127C>T|||||127|,A|non_coding_exon_variant|MODIFIER|MIF|ENSG00000240972|transcript|ENST00000465752|retained_intron|2/2|n.283G>A||||||,A|non_coding_exon_variant|MODIFIER|MIF|ENSG00000240972|transcript|ENST00000498385|retained_intron|1/2|n.224G>A|||||| 22 24237189 . C T . . ANN=T|sequence_feature|LOW|MIF|ENSG00000240972|helix|ENST00000215754|protein_coding|3/3|c.282-38C>T||||||,T|sequence_feature|LOW|MIF|ENSG00000240972|helix|ENST00000215754|protein_coding|2/3|c.282-38C>T||||||,T|3_prime_UTR_variant|MODIFIER|AP000350.4|ENSG00000218537|transcript|ENST00000406213|protein_coding|3/3|c.*46G>A|||||46|,T|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|5/5|c.605-38C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|MIF|ENSG00000240972|transcript|ENST00000215754|protein_coding|2/2|c.282-38C>T||||||,T|intron_variant|MODIFIER|MIF|ENSG00000240972|transcript|ENST00000498385|retained_intron|1/1|n.248-38C>T||||||,T|non_coding_exon_variant|MODIFIER|MIF|ENSG00000240972|transcript|ENST00000465752|retained_intron|2/2|n.364C>T|||||| 22 24237217 . C T . . ANN=T|TF_binding_site_variant|LOW|||SP1|MA0079.2|||||||||,T|sequence_feature|LOW|MIF|ENSG00000240972|helix|ENST00000215754|protein_coding|3/3|c.282-10C>T||||||,T|sequence_feature|LOW|MIF|ENSG00000240972|helix|ENST00000215754|protein_coding|2/3|c.282-10C>T||||||,T|3_prime_UTR_variant|MODIFIER|AP000350.4|ENSG00000218537|transcript|ENST00000406213|protein_coding|3/3|c.*18G>A|||||18|,T|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|5/5|c.605-10C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|MIF|ENSG00000240972|transcript|ENST00000215754|protein_coding|2/2|c.282-10C>T||||||,T|intron_variant|MODIFIER|MIF|ENSG00000240972|transcript|ENST00000498385|retained_intron|1/1|n.248-10C>T||||||,T|non_coding_exon_variant|MODIFIER|MIF|ENSG00000240972|transcript|ENST00000465752|retained_intron|2/2|n.392C>T|||||| 22 24237218 . C T . . ANN=T|TF_binding_site_variant|LOW|||SP1|MA0079.2|||||||||,T|sequence_feature|LOW|MIF|ENSG00000240972|helix|ENST00000215754|protein_coding|3/3|c.282-9C>T||||||,T|sequence_feature|LOW|MIF|ENSG00000240972|helix|ENST00000215754|protein_coding|2/3|c.282-9C>T||||||,T|3_prime_UTR_variant|MODIFIER|AP000350.4|ENSG00000218537|transcript|ENST00000406213|protein_coding|3/3|c.*17G>A|||||17|,T|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|5/5|c.605-9C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|MIF|ENSG00000240972|transcript|ENST00000215754|protein_coding|2/2|c.282-9C>T||||||,T|intron_variant|MODIFIER|MIF|ENSG00000240972|transcript|ENST00000498385|retained_intron|1/1|n.248-9C>T||||||,T|non_coding_exon_variant|MODIFIER|MIF|ENSG00000240972|transcript|ENST00000465752|retained_intron|2/2|n.393C>T|||||| 22 24237220 . C A . . ANN=A|splice_region_variant&intron_variant|LOW|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|5/5|c.605-7C>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|splice_region_variant&intron_variant|LOW|MIF|ENSG00000240972|transcript|ENST00000215754|protein_coding|2/2|c.282-7C>A||||||,A|splice_region_variant&intron_variant|LOW|MIF|ENSG00000240972|transcript|ENST00000498385|retained_intron|1/1|n.248-7C>A||||||,A|TF_binding_site_variant|LOW|||SP1|MA0079.2|||||||||,A|sequence_feature|LOW|MIF|ENSG00000240972|helix|ENST00000215754|protein_coding|3/3|c.282-7C>A||||||,A|sequence_feature|LOW|MIF|ENSG00000240972|helix|ENST00000215754|protein_coding|2/3|c.282-7C>A||||||,A|3_prime_UTR_variant|MODIFIER|AP000350.4|ENSG00000218537|transcript|ENST00000406213|protein_coding|3/3|c.*15G>T|||||15|,A|non_coding_exon_variant|MODIFIER|MIF|ENSG00000240972|transcript|ENST00000465752|retained_intron|2/2|n.395C>A|||||| 22 24237221 . C G . . ANN=G|splice_region_variant&intron_variant|LOW|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|5/5|c.605-6C>G||||||WARNING_TRANSCRIPT_NO_START_CODON,G|splice_region_variant&intron_variant|LOW|MIF|ENSG00000240972|transcript|ENST00000215754|protein_coding|2/2|c.282-6C>G||||||,G|splice_region_variant&intron_variant|LOW|MIF|ENSG00000240972|transcript|ENST00000498385|retained_intron|1/1|n.248-6C>G||||||,G|TF_binding_site_variant|LOW|||SP1|MA0079.2|||||||||,G|sequence_feature|LOW|MIF|ENSG00000240972|helix|ENST00000215754|protein_coding|3/3|c.282-6C>G||||||,G|sequence_feature|LOW|MIF|ENSG00000240972|helix|ENST00000215754|protein_coding|2/3|c.282-6C>G||||||,G|3_prime_UTR_variant|MODIFIER|AP000350.4|ENSG00000218537|transcript|ENST00000406213|protein_coding|3/3|c.*14G>C|||||14|,G|non_coding_exon_variant|MODIFIER|MIF|ENSG00000240972|transcript|ENST00000465752|retained_intron|2/2|n.396C>G|||||| 22 24237283 . C T . . ANN=T|missense_variant|MODERATE|MIF|ENSG00000240972|transcript|ENST00000215754|protein_coding|3/3|c.338C>T|p.Thr113Ile|809/939|338/348|113/115||,T|synonymous_variant|LOW|AP000350.4|ENSG00000218537|transcript|ENST00000406213|protein_coding|3/3|c.522G>A|p.Arg174Arg|806/1476|522/570|174/189||,T|sequence_feature|LOW|MIF|ENSG00000240972|beta_strand|ENST00000215754|protein_coding|3/3|c.338C>T||||||,T|3_prime_UTR_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|6/6|c.*31C>T|||||31|WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|MIF|ENSG00000240972|transcript|ENST00000465752|retained_intron|2/2|n.458C>T||||||,T|non_coding_exon_variant|MODIFIER|MIF|ENSG00000240972|transcript|ENST00000498385|retained_intron|2/2|n.304C>T|||||| 22 24237303 . G A . . ANN=A|missense_variant|MODERATE|AP000350.4|ENSG00000218537|transcript|ENST00000406213|protein_coding|3/3|c.502C>T|p.Pro168Ser|786/1476|502/570|168/189||,A|3_prime_UTR_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|6/6|c.*51G>A|||||51|WARNING_TRANSCRIPT_NO_START_CODON,A|3_prime_UTR_variant|MODIFIER|MIF|ENSG00000240972|transcript|ENST00000215754|protein_coding|3/3|c.*10G>A|||||10|,A|non_coding_exon_variant|MODIFIER|MIF|ENSG00000240972|transcript|ENST00000465752|retained_intron|2/2|n.478G>A||||||,A|non_coding_exon_variant|MODIFIER|MIF|ENSG00000240972|transcript|ENST00000498385|retained_intron|2/2|n.324G>A|||||| 22 24313449 . G C . . ANN=C|downstream_gene_variant|MODIFIER|KB-226F1.2|ENSG00000272787|transcript|ENST00000609736|lincRNA||n.*663G>C|||||1387|,C|downstream_gene_variant|MODIFIER|DDT|ENSG00000099977|transcript|ENST00000403754|protein_coding||c.*546C>G|||||1844|,C|downstream_gene_variant|MODIFIER|DDT|ENSG00000099977|transcript|ENST00000398344|protein_coding||c.*527C>G|||||105|,C|downstream_gene_variant|MODIFIER|DDT|ENSG00000099977|transcript|ENST00000350608|protein_coding||c.*485C>G|||||105|,C|downstream_gene_variant|MODIFIER|DDT|ENSG00000099977|transcript|ENST00000428792|protein_coding||c.*152C>G|||||110|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|DDT|ENSG00000099977|transcript|ENST00000404092|protein_coding||c.*632C>G|||||118|,C|downstream_gene_variant|MODIFIER|DDT|ENSG00000099977|transcript|ENST00000444947|retained_intron||n.*1048C>G|||||1821|,C|downstream_gene_variant|MODIFIER|DDT|ENSG00000099977|transcript|ENST00000430101|protein_coding||c.*369C>G|||||1844|,C|intron_variant|MODIFIER|DDTL|ENSG00000099974|transcript|ENST00000215770|protein_coding|2/2|c.285-26G>C|||||| 22 24313457 . T TAAACATCAGACAGCAGCCCTGAAGATGG . . ANN=AAACATCAGACAGCAGCCCTGAAGATGG|downstream_gene_variant|MODIFIER|KB-226F1.2|ENSG00000272787|transcript|ENST00000609736|lincRNA||n.*663_*663insAAACATCAGACAGCAGCCCTGAAGATGG|||||1396|,AAACATCAGACAGCAGCCCTGAAGATGG|downstream_gene_variant|MODIFIER|DDT|ENSG00000099977|transcript|ENST00000403754|protein_coding||c.*546_*546insCCATCTTCAGGGCTGCTGTCTGATGTTT|||||1835|,AAACATCAGACAGCAGCCCTGAAGATGG|downstream_gene_variant|MODIFIER|DDT|ENSG00000099977|transcript|ENST00000398344|protein_coding||c.*527_*527insCCATCTTCAGGGCTGCTGTCTGATGTTT|||||96|,AAACATCAGACAGCAGCCCTGAAGATGG|downstream_gene_variant|MODIFIER|DDT|ENSG00000099977|transcript|ENST00000350608|protein_coding||c.*485_*485insCCATCTTCAGGGCTGCTGTCTGATGTTT|||||96|,AAACATCAGACAGCAGCCCTGAAGATGG|downstream_gene_variant|MODIFIER|DDT|ENSG00000099977|transcript|ENST00000428792|protein_coding||c.*152_*152insCCATCTTCAGGGCTGCTGTCTGATGTTT|||||101|WARNING_TRANSCRIPT_NO_START_CODON,AAACATCAGACAGCAGCCCTGAAGATGG|downstream_gene_variant|MODIFIER|DDT|ENSG00000099977|transcript|ENST00000404092|protein_coding||c.*632_*632insCCATCTTCAGGGCTGCTGTCTGATGTTT|||||109|,AAACATCAGACAGCAGCCCTGAAGATGG|downstream_gene_variant|MODIFIER|DDT|ENSG00000099977|transcript|ENST00000444947|retained_intron||n.*1048_*1048insCCATCTTCAGGGCTGCTGTCTGATGTTT|||||1812|,AAACATCAGACAGCAGCCCTGAAGATGG|downstream_gene_variant|MODIFIER|DDT|ENSG00000099977|transcript|ENST00000430101|protein_coding||c.*369_*369insCCATCTTCAGGGCTGCTGTCTGATGTTT|||||1835|,CATCAGACAGCAGCCCTGAAGATGGAAA|intron_variant|MODIFIER|DDTL|ENSG00000099974|transcript|ENST00000215770|protein_coding|2/2|c.285-15_285-14insCATCAGACAGCAGCCCTGAAGATGGAAA||||||INFO_REALIGN_3_PRIME 22 24313483 . C T . . ANN=T|missense_variant|MODERATE|DDTL|ENSG00000099974|transcript|ENST00000215770|protein_coding|3/3|c.293C>T|p.Thr98Met|307/1545|293/405|98/134||,T|downstream_gene_variant|MODIFIER|KB-226F1.2|ENSG00000272787|transcript|ENST00000609736|lincRNA||n.*663C>T|||||1421|,T|downstream_gene_variant|MODIFIER|DDT|ENSG00000099977|transcript|ENST00000403754|protein_coding||c.*546G>A|||||1810|,T|downstream_gene_variant|MODIFIER|DDT|ENSG00000099977|transcript|ENST00000398344|protein_coding||c.*527G>A|||||71|,T|downstream_gene_variant|MODIFIER|DDT|ENSG00000099977|transcript|ENST00000350608|protein_coding||c.*485G>A|||||71|,T|downstream_gene_variant|MODIFIER|DDT|ENSG00000099977|transcript|ENST00000428792|protein_coding||c.*152G>A|||||76|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|DDT|ENSG00000099977|transcript|ENST00000404092|protein_coding||c.*632G>A|||||84|,T|downstream_gene_variant|MODIFIER|DDT|ENSG00000099977|transcript|ENST00000444947|retained_intron||n.*1048G>A|||||1787|,T|downstream_gene_variant|MODIFIER|DDT|ENSG00000099977|transcript|ENST00000430101|protein_coding||c.*369G>A|||||1810| 22 24313484 . G A . . ANN=A|synonymous_variant|LOW|DDTL|ENSG00000099974|transcript|ENST00000215770|protein_coding|3/3|c.294G>A|p.Thr98Thr|308/1545|294/405|98/134||,A|downstream_gene_variant|MODIFIER|KB-226F1.2|ENSG00000272787|transcript|ENST00000609736|lincRNA||n.*663G>A|||||1422|,A|downstream_gene_variant|MODIFIER|DDT|ENSG00000099977|transcript|ENST00000403754|protein_coding||c.*546C>T|||||1809|,A|downstream_gene_variant|MODIFIER|DDT|ENSG00000099977|transcript|ENST00000398344|protein_coding||c.*527C>T|||||70|,A|downstream_gene_variant|MODIFIER|DDT|ENSG00000099977|transcript|ENST00000350608|protein_coding||c.*485C>T|||||70|,A|downstream_gene_variant|MODIFIER|DDT|ENSG00000099977|transcript|ENST00000428792|protein_coding||c.*152C>T|||||75|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|DDT|ENSG00000099977|transcript|ENST00000404092|protein_coding||c.*632C>T|||||83|,A|downstream_gene_variant|MODIFIER|DDT|ENSG00000099977|transcript|ENST00000444947|retained_intron||n.*1048C>T|||||1786|,A|downstream_gene_variant|MODIFIER|DDT|ENSG00000099977|transcript|ENST00000430101|protein_coding||c.*369C>T|||||1809| 22 24313530 . GGA G . . ANN=|frameshift_variant|HIGH|DDTL|ENSG00000099974|transcript|ENST00000215770|protein_coding|3/3|c.345_346delGA|p.Glu115fs|359/1545|345/405|115/134||INFO_REALIGN_3_PRIME,|downstream_gene_variant|MODIFIER|KB-226F1.2|ENSG00000272787|transcript|ENST00000609736|lincRNA||n.*663_*663delGA|||||1469|,|downstream_gene_variant|MODIFIER|DDT|ENSG00000099977|transcript|ENST00000403754|protein_coding||c.*546_*546delTC|||||1762|,|downstream_gene_variant|MODIFIER|DDT|ENSG00000099977|transcript|ENST00000398344|protein_coding||c.*527_*527delTC|||||23|,|downstream_gene_variant|MODIFIER|DDT|ENSG00000099977|transcript|ENST00000350608|protein_coding||c.*485_*485delTC|||||23|,|downstream_gene_variant|MODIFIER|DDT|ENSG00000099977|transcript|ENST00000428792|protein_coding||c.*152_*152delTC|||||28|WARNING_TRANSCRIPT_NO_START_CODON,|downstream_gene_variant|MODIFIER|DDT|ENSG00000099977|transcript|ENST00000404092|protein_coding||c.*632_*632delTC|||||36|,|downstream_gene_variant|MODIFIER|DDT|ENSG00000099977|transcript|ENST00000444947|retained_intron||n.*1048_*1048delTC|||||1739|,|downstream_gene_variant|MODIFIER|DDT|ENSG00000099977|transcript|ENST00000430101|protein_coding||c.*369_*369delTC|||||1762|;LOF=(DDTL|ENSG00000099974|1|1.00) 22 24313802 . G A . . ANN=A|missense_variant|MODERATE|DDT|ENSG00000099977|transcript|ENST00000398344|protein_coding|3/3|c.295C>T|p.Arg99Cys|465/713|295/357|99/118||,A|missense_variant|MODERATE|DDT|ENSG00000099977|transcript|ENST00000350608|protein_coding|4/4|c.295C>T|p.Arg99Cys|423/671|295/357|99/118||,A|missense_variant|MODERATE|DDT|ENSG00000099977|transcript|ENST00000428792|protein_coding|2/2|c.88C>T|p.Arg30Cys|90/333|88/150|30/49||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|DDT|ENSG00000099977|transcript|ENST00000404092|protein_coding|5/5|c.337C>T|p.Arg113Cys|570/805|337/399|113/132||,A|sequence_feature|LOW|DDT|ENSG00000099977|beta_strand|ENST00000350608|protein_coding|4/4|c.295C>T||||||,A|3_prime_UTR_variant|MODIFIER|DDTL|ENSG00000099974|transcript|ENST00000215770|protein_coding|3/3|c.*207G>A|||||207|,A|downstream_gene_variant|MODIFIER|KB-226F1.2|ENSG00000272787|transcript|ENST00000609736|lincRNA||n.*663G>A|||||1740|,A|downstream_gene_variant|MODIFIER|DDT|ENSG00000099977|transcript|ENST00000403754|protein_coding||c.*546C>T|||||1491|,A|downstream_gene_variant|MODIFIER|DDT|ENSG00000099977|transcript|ENST00000444947|retained_intron||n.*1048C>T|||||1468|,A|downstream_gene_variant|MODIFIER|DDT|ENSG00000099977|transcript|ENST00000430101|protein_coding||c.*369C>T|||||1491| 22 24313856 . T C . . ANN=C|sequence_feature|LOW|DDT|ENSG00000099977|helix|ENST00000350608|protein_coding|3/4|c.285-44A>G||||||,C|sequence_feature|LOW|DDT|ENSG00000099977|helix|ENST00000350608|protein_coding|4/4|c.285-44A>G||||||,C|3_prime_UTR_variant|MODIFIER|DDTL|ENSG00000099974|transcript|ENST00000215770|protein_coding|3/3|c.*261T>C|||||261|,C|downstream_gene_variant|MODIFIER|KB-226F1.2|ENSG00000272787|transcript|ENST00000609736|lincRNA||n.*663T>C|||||1794|,C|downstream_gene_variant|MODIFIER|DDT|ENSG00000099977|transcript|ENST00000403754|protein_coding||c.*546A>G|||||1437|,C|downstream_gene_variant|MODIFIER|DDT|ENSG00000099977|transcript|ENST00000444947|retained_intron||n.*1048A>G|||||1414|,C|downstream_gene_variant|MODIFIER|DDT|ENSG00000099977|transcript|ENST00000430101|protein_coding||c.*369A>G|||||1437|,C|intron_variant|MODIFIER|DDT|ENSG00000099977|transcript|ENST00000398344|protein_coding|2/2|c.285-44A>G||||||,C|intron_variant|MODIFIER|DDT|ENSG00000099977|transcript|ENST00000350608|protein_coding|3/3|c.285-44A>G||||||,C|intron_variant|MODIFIER|DDT|ENSG00000099977|transcript|ENST00000428792|protein_coding|1/1|c.78-44A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|DDT|ENSG00000099977|transcript|ENST00000404092|protein_coding|4/4|c.327-44A>G|||||| 22 24323153 . AAGG A . . ANN=|inframe_deletion|MODERATE|GSTT2|ENSG00000099984|transcript|ENST00000215780|protein_coding|2/5|c.130_132delGAG|p.Glu44del|180/1094|130/735|44/244||INFO_REALIGN_3_PRIME,|inframe_deletion|MODERATE|GSTT2|ENSG00000099984|transcript|ENST00000402588|protein_coding|2/5|c.130_132delGAG|p.Glu44del|132/695|130/693|44/230||INFO_REALIGN_3_PRIME,|upstream_gene_variant|MODIFIER|AP000351.3|ENSG00000250470|transcript|ENST00000506097|unprocessed_pseudogene||n.-1_-1delCCT|||||3378|,|upstream_gene_variant|MODIFIER|DDT|ENSG00000099977|transcript|ENST00000350608|protein_coding||c.-129_-129delCCT|||||1135|,|upstream_gene_variant|MODIFIER|DDT|ENSG00000099977|transcript|ENST00000404092|protein_coding||c.-234_-234delCCT|||||494| 22 24376817 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|GSTT1|ENSG00000184674|transcript|ENST00000248935|protein_coding|4/4|c.528+5G>A||||||,T|splice_region_variant&intron_variant|LOW|GSTT1|ENSG00000184674|transcript|ENST00000417831|nonsense_mediated_decay|2/2|n.*151+5G>A||||||,T|splice_region_variant&intron_variant|LOW|GSTT1|ENSG00000184674|transcript|ENST00000426209|nonsense_mediated_decay|3/3|n.*238+5G>A||||||,T|splice_region_variant&intron_variant|LOW|GSTT1|ENSG00000184674|transcript|ENST00000458231|nonsense_mediated_decay|4/4|n.*173+5G>A||||||,T|splice_region_variant&intron_variant|LOW|GSTT1|ENSG00000184674|transcript|ENST00000417489|nonsense_mediated_decay|3/3|n.*305+5G>A||||||,T|splice_region_variant&intron_variant|LOW|GSTT1|ENSG00000184674|transcript|ENST00000439996|protein_coding|3/3|c.174+5G>A||||||,T|sequence_feature|LOW|GSTT1|ENSG00000184674|domain:GST_C-terminal|ENST00000248935|protein_coding|3/5|c.528+5G>A||||||,T|sequence_feature|LOW|GSTT1|ENSG00000184674|domain:GST_C-terminal|ENST00000248935|protein_coding|5/5|c.528+5G>A||||||,T|sequence_feature|LOW|GSTT1|ENSG00000184674|domain:GST_C-terminal|ENST00000248935|protein_coding|4/5|c.528+5G>A||||||,T|sequence_feature|LOW|GSTT1|ENSG00000184674|helix|ENST00000248935|protein_coding|5/5|c.528+5G>A||||||,T|sequence_feature|LOW|GSTT1|ENSG00000184674|helix|ENST00000248935|protein_coding|4/5|c.528+5G>A||||||,T|downstream_gene_variant|MODIFIER|AP000351.10|ENSG00000235231|transcript|ENST00000439866|unprocessed_pseudogene||n.*563C>T|||||2774|,T|downstream_gene_variant|MODIFIER|KB-226F1.1|ENSG00000272955|transcript|ENST00000608619|antisense||n.*650C>T|||||606|,T|downstream_gene_variant|MODIFIER|AP000351.10|ENSG00000235231|transcript|ENST00000503903|unprocessed_pseudogene||n.*281C>T|||||3032|,T|downstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000418883|nonsense_mediated_decay||n.*385G>A|||||98|,T|downstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000480898|retained_intron||n.*2066G>A|||||3057|,T|downstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000428175|retained_intron||n.*566G>A|||||4704|,T|downstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000447865|protein_coding||c.*559G>A|||||4888|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000436103|protein_coding|1/1|c.133-200G>A||||||,T|intron_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417870|protein_coding|1/1|c.113-200G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 24376845 . C T . . ANN=T|missense_variant|MODERATE|GSTT1|ENSG00000184674|transcript|ENST00000248935|protein_coding|4/5|c.505G>A|p.Val169Ile|558/1066|505/723|169/240||,T|missense_variant|MODERATE|GSTT1|ENSG00000184674|transcript|ENST00000439996|protein_coding|3/4|c.151G>A|p.Val51Ile|428/778|151/369|51/122||,T|sequence_feature|LOW|GSTT1|ENSG00000184674|domain:GST_C-terminal|ENST00000248935|protein_coding|3/5|c.505G>A||||||,T|sequence_feature|LOW|GSTT1|ENSG00000184674|domain:GST_C-terminal|ENST00000248935|protein_coding|5/5|c.505G>A||||||,T|sequence_feature|LOW|GSTT1|ENSG00000184674|domain:GST_C-terminal|ENST00000248935|protein_coding|4/5|c.505G>A||||||,T|sequence_feature|LOW|GSTT1|ENSG00000184674|helix|ENST00000248935|protein_coding|5/5|c.505G>A||||||,T|sequence_feature|LOW|GSTT1|ENSG00000184674|helix|ENST00000248935|protein_coding|4/5|c.505G>A||||||,T|3_prime_UTR_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417831|nonsense_mediated_decay|2/3|n.*128G>A|||||128|,T|3_prime_UTR_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000426209|nonsense_mediated_decay|3/4|n.*215G>A|||||2577|,T|3_prime_UTR_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000458231|nonsense_mediated_decay|4/5|n.*150G>A|||||150|,T|3_prime_UTR_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417489|nonsense_mediated_decay|3/4|n.*282G>A|||||2644|,T|downstream_gene_variant|MODIFIER|AP000351.10|ENSG00000235231|transcript|ENST00000439866|unprocessed_pseudogene||n.*563C>T|||||2802|,T|downstream_gene_variant|MODIFIER|KB-226F1.1|ENSG00000272955|transcript|ENST00000608619|antisense||n.*650C>T|||||634|,T|downstream_gene_variant|MODIFIER|AP000351.10|ENSG00000235231|transcript|ENST00000503903|unprocessed_pseudogene||n.*281C>T|||||3060|,T|downstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000418883|nonsense_mediated_decay||n.*385G>A|||||70|,T|downstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000480898|retained_intron||n.*2066G>A|||||3029|,T|downstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000428175|retained_intron||n.*566G>A|||||4676|,T|downstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000447865|protein_coding||c.*559G>A|||||4860|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000436103|protein_coding|1/1|c.133-228G>A||||||,T|intron_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417870|protein_coding|1/1|c.113-228G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417831|nonsense_mediated_decay|2/3|n.*128G>A||||||,T|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000426209|nonsense_mediated_decay|3/4|n.*215G>A||||||,T|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000458231|nonsense_mediated_decay|4/5|n.*150G>A||||||,T|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417489|nonsense_mediated_decay|3/4|n.*282G>A|||||| 22 24376865 . T A . . ANN=A|missense_variant|MODERATE|GSTT1|ENSG00000184674|transcript|ENST00000248935|protein_coding|4/5|c.485A>T|p.His162Leu|538/1066|485/723|162/240||,A|missense_variant|MODERATE|GSTT1|ENSG00000184674|transcript|ENST00000439996|protein_coding|3/4|c.131A>T|p.His44Leu|408/778|131/369|44/122||,A|sequence_feature|LOW|GSTT1|ENSG00000184674|domain:GST_C-terminal|ENST00000248935|protein_coding|3/5|c.485A>T||||||,A|sequence_feature|LOW|GSTT1|ENSG00000184674|domain:GST_C-terminal|ENST00000248935|protein_coding|5/5|c.485A>T||||||,A|sequence_feature|LOW|GSTT1|ENSG00000184674|domain:GST_C-terminal|ENST00000248935|protein_coding|4/5|c.485A>T||||||,A|sequence_feature|LOW|GSTT1|ENSG00000184674|beta_strand|ENST00000248935|protein_coding|4/5|c.485A>T||||||,A|3_prime_UTR_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417831|nonsense_mediated_decay|2/3|n.*108A>T|||||108|,A|3_prime_UTR_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000426209|nonsense_mediated_decay|3/4|n.*195A>T|||||2557|,A|3_prime_UTR_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000458231|nonsense_mediated_decay|4/5|n.*130A>T|||||130|,A|3_prime_UTR_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417489|nonsense_mediated_decay|3/4|n.*262A>T|||||2624|,A|downstream_gene_variant|MODIFIER|AP000351.10|ENSG00000235231|transcript|ENST00000439866|unprocessed_pseudogene||n.*563T>A|||||2822|,A|downstream_gene_variant|MODIFIER|KB-226F1.1|ENSG00000272955|transcript|ENST00000608619|antisense||n.*650T>A|||||654|,A|downstream_gene_variant|MODIFIER|AP000351.10|ENSG00000235231|transcript|ENST00000503903|unprocessed_pseudogene||n.*281T>A|||||3080|,A|downstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000418883|nonsense_mediated_decay||n.*385A>T|||||50|,A|downstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000480898|retained_intron||n.*2066A>T|||||3009|,A|downstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000428175|retained_intron||n.*566A>T|||||4656|,A|downstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000447865|protein_coding||c.*559A>T|||||4840|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000436103|protein_coding|1/1|c.133-248A>T||||||,A|intron_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417870|protein_coding|1/1|c.113-248A>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417831|nonsense_mediated_decay|2/3|n.*108A>T||||||,A|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000426209|nonsense_mediated_decay|3/4|n.*195A>T||||||,A|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000458231|nonsense_mediated_decay|4/5|n.*130A>T||||||,A|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417489|nonsense_mediated_decay|3/4|n.*262A>T|||||| 22 24376939 . C T . . ANN=T|synonymous_variant|LOW|GSTT1|ENSG00000184674|transcript|ENST00000248935|protein_coding|4/5|c.411G>A|p.Leu137Leu|464/1066|411/723|137/240||,T|synonymous_variant|LOW|GSTT1|ENSG00000184674|transcript|ENST00000439996|protein_coding|3/4|c.57G>A|p.Leu19Leu|334/778|57/369|19/122||,T|sequence_feature|LOW|GSTT1|ENSG00000184674|domain:GST_C-terminal|ENST00000248935|protein_coding|3/5|c.411G>A||||||,T|sequence_feature|LOW|GSTT1|ENSG00000184674|domain:GST_C-terminal|ENST00000248935|protein_coding|5/5|c.411G>A||||||,T|sequence_feature|LOW|GSTT1|ENSG00000184674|domain:GST_C-terminal|ENST00000248935|protein_coding|4/5|c.411G>A||||||,T|sequence_feature|LOW|GSTT1|ENSG00000184674|helix|ENST00000248935|protein_coding|4/5|c.411G>A||||||,T|3_prime_UTR_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417831|nonsense_mediated_decay|2/3|n.*34G>A|||||34|,T|3_prime_UTR_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000426209|nonsense_mediated_decay|3/4|n.*121G>A|||||2483|,T|3_prime_UTR_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000458231|nonsense_mediated_decay|4/5|n.*56G>A|||||56|,T|3_prime_UTR_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417489|nonsense_mediated_decay|3/4|n.*188G>A|||||2550|,T|3_prime_UTR_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000418883|nonsense_mediated_decay|5/5|n.*175G>A|||||2537|,T|downstream_gene_variant|MODIFIER|AP000351.10|ENSG00000235231|transcript|ENST00000439866|unprocessed_pseudogene||n.*563C>T|||||2896|,T|downstream_gene_variant|MODIFIER|KB-226F1.1|ENSG00000272955|transcript|ENST00000608619|antisense||n.*650C>T|||||728|,T|downstream_gene_variant|MODIFIER|AP000351.10|ENSG00000235231|transcript|ENST00000503903|unprocessed_pseudogene||n.*281C>T|||||3154|,T|downstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000480898|retained_intron||n.*2066G>A|||||2935|,T|downstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000428175|retained_intron||n.*566G>A|||||4582|,T|downstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000447865|protein_coding||c.*559G>A|||||4766|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000436103|protein_coding|1/1|c.133-322G>A||||||,T|intron_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417870|protein_coding|1/1|c.113-322G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417831|nonsense_mediated_decay|2/3|n.*34G>A||||||,T|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000426209|nonsense_mediated_decay|3/4|n.*121G>A||||||,T|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000458231|nonsense_mediated_decay|4/5|n.*56G>A||||||,T|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417489|nonsense_mediated_decay|3/4|n.*188G>A||||||,T|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000418883|nonsense_mediated_decay|5/5|n.*175G>A|||||| 22 24377034 . A G . . ANN=G|sequence_feature|LOW|GSTT1|ENSG00000184674|domain:GST_C-terminal|ENST00000248935|protein_coding|3/5|c.352-36T>C||||||,G|sequence_feature|LOW|GSTT1|ENSG00000184674|domain:GST_C-terminal|ENST00000248935|protein_coding|5/5|c.352-36T>C||||||,G|sequence_feature|LOW|GSTT1|ENSG00000184674|domain:GST_C-terminal|ENST00000248935|protein_coding|4/5|c.352-36T>C||||||,G|downstream_gene_variant|MODIFIER|AP000351.10|ENSG00000235231|transcript|ENST00000439866|unprocessed_pseudogene||n.*563A>G|||||2991|,G|downstream_gene_variant|MODIFIER|KB-226F1.1|ENSG00000272955|transcript|ENST00000608619|antisense||n.*650A>G|||||823|,G|downstream_gene_variant|MODIFIER|AP000351.10|ENSG00000235231|transcript|ENST00000503903|unprocessed_pseudogene||n.*281A>G|||||3249|,G|downstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000480898|retained_intron||n.*2066T>C|||||2840|,G|downstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000428175|retained_intron||n.*566T>C|||||4487|,G|downstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000447865|protein_coding||c.*559T>C|||||4671|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000248935|protein_coding|3/4|c.352-36T>C||||||,G|intron_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000436103|protein_coding|1/1|c.133-417T>C||||||,G|intron_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417831|nonsense_mediated_decay|1/2|n.113-36T>C||||||,G|intron_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000426209|nonsense_mediated_decay|2/3|n.*62-36T>C||||||,G|intron_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000458231|nonsense_mediated_decay|3/4|n.291-36T>C||||||,G|intron_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417489|nonsense_mediated_decay|2/3|n.*129-36T>C||||||,G|intron_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000439996|protein_coding|2/3|c.-3-36T>C||||||,G|intron_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417870|protein_coding|1/1|c.113-417T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000418883|nonsense_mediated_decay|4/4|n.*116-36T>C|||||| 22 24379392 . C T . . ANN=T|missense_variant|MODERATE|GSTT1|ENSG00000184674|transcript|ENST00000248935|protein_coding|3/5|c.320G>A|p.Arg107Gln|373/1066|320/723|107/240||,T|missense_variant|MODERATE|GSTT1|ENSG00000184674|transcript|ENST00000436103|protein_coding|1/2|c.101G>A|p.Arg34Gln|101/617|101/327|34/108||,T|sequence_feature|LOW|GSTT1|ENSG00000184674|domain:GST_C-terminal|ENST00000248935|protein_coding|3/5|c.320G>A||||||,T|sequence_feature|LOW|GSTT1|ENSG00000184674|domain:GST_C-terminal|ENST00000248935|protein_coding|5/5|c.320G>A||||||,T|sequence_feature|LOW|GSTT1|ENSG00000184674|domain:GST_C-terminal|ENST00000248935|protein_coding|4/5|c.320G>A||||||,T|sequence_feature|LOW|GSTT1|ENSG00000184674|helix|ENST00000248935|protein_coding|3/5|c.320G>A||||||,T|5_prime_UTR_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000439996|protein_coding|2/4|c.-35G>A|||||2397|,T|3_prime_UTR_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000426209|nonsense_mediated_decay|2/4|n.*30G>A|||||30|,T|3_prime_UTR_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417489|nonsense_mediated_decay|2/4|n.*97G>A|||||97|,T|3_prime_UTR_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000418883|nonsense_mediated_decay|4/5|n.*84G>A|||||84|,T|downstream_gene_variant|MODIFIER|KB-226F1.1|ENSG00000272955|transcript|ENST00000608619|antisense||n.*650C>T|||||3181|,T|downstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000480898|retained_intron||n.*2066G>A|||||482|,T|downstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000428175|retained_intron||n.*566G>A|||||2129|,T|downstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000447865|protein_coding||c.*559G>A|||||2313|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000486544|retained_intron||n.*586G>A|||||3541|,T|intron_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417831|nonsense_mediated_decay|1/2|n.113-2394G>A||||||,T|intron_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417870|protein_coding|1/1|c.113-2775G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000426209|nonsense_mediated_decay|2/4|n.*30G>A||||||,T|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000458231|nonsense_mediated_decay|3/5|n.259G>A||||||,T|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417489|nonsense_mediated_decay|2/4|n.*97G>A||||||,T|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000418883|nonsense_mediated_decay|4/5|n.*84G>A|||||| 22 24379402 . T G . . ANN=G|missense_variant|MODERATE|GSTT1|ENSG00000184674|transcript|ENST00000248935|protein_coding|3/5|c.310A>C|p.Thr104Pro|363/1066|310/723|104/240||,G|missense_variant|MODERATE|GSTT1|ENSG00000184674|transcript|ENST00000436103|protein_coding|1/2|c.91A>C|p.Thr31Pro|91/617|91/327|31/108||,G|sequence_feature|LOW|GSTT1|ENSG00000184674|domain:GST_C-terminal|ENST00000248935|protein_coding|3/5|c.310A>C||||||,G|sequence_feature|LOW|GSTT1|ENSG00000184674|domain:GST_C-terminal|ENST00000248935|protein_coding|5/5|c.310A>C||||||,G|sequence_feature|LOW|GSTT1|ENSG00000184674|domain:GST_C-terminal|ENST00000248935|protein_coding|4/5|c.310A>C||||||,G|sequence_feature|LOW|GSTT1|ENSG00000184674|helix|ENST00000248935|protein_coding|3/5|c.310A>C||||||,G|5_prime_UTR_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000439996|protein_coding|2/4|c.-45A>C|||||2407|,G|3_prime_UTR_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000426209|nonsense_mediated_decay|2/4|n.*20A>C|||||20|,G|3_prime_UTR_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417489|nonsense_mediated_decay|2/4|n.*87A>C|||||87|,G|3_prime_UTR_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000418883|nonsense_mediated_decay|4/5|n.*74A>C|||||74|,G|downstream_gene_variant|MODIFIER|KB-226F1.1|ENSG00000272955|transcript|ENST00000608619|antisense||n.*650T>G|||||3191|,G|downstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000480898|retained_intron||n.*2066A>C|||||472|,G|downstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000428175|retained_intron||n.*566A>C|||||2119|,G|downstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000447865|protein_coding||c.*559A>C|||||2303|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000486544|retained_intron||n.*586A>C|||||3531|,G|intron_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417831|nonsense_mediated_decay|1/2|n.113-2404A>C||||||,G|intron_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417870|protein_coding|1/1|c.113-2785A>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000426209|nonsense_mediated_decay|2/4|n.*20A>C||||||,G|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000458231|nonsense_mediated_decay|3/5|n.249A>C||||||,G|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417489|nonsense_mediated_decay|2/4|n.*87A>C||||||,G|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000418883|nonsense_mediated_decay|4/5|n.*74A>C|||||| 22 24379411 . A G . . ANN=G|missense_variant|MODERATE|GSTT1|ENSG00000184674|transcript|ENST00000248935|protein_coding|3/5|c.301T>C|p.Trp101Arg|354/1066|301/723|101/240||,G|missense_variant|MODERATE|GSTT1|ENSG00000184674|transcript|ENST00000436103|protein_coding|1/2|c.82T>C|p.Trp28Arg|82/617|82/327|28/108||,G|sequence_feature|LOW|GSTT1|ENSG00000184674|domain:GST_C-terminal|ENST00000248935|protein_coding|3/5|c.301T>C||||||,G|sequence_feature|LOW|GSTT1|ENSG00000184674|domain:GST_C-terminal|ENST00000248935|protein_coding|5/5|c.301T>C||||||,G|sequence_feature|LOW|GSTT1|ENSG00000184674|domain:GST_C-terminal|ENST00000248935|protein_coding|4/5|c.301T>C||||||,G|sequence_feature|LOW|GSTT1|ENSG00000184674|helix|ENST00000248935|protein_coding|3/5|c.301T>C||||||,G|5_prime_UTR_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000439996|protein_coding|2/4|c.-54T>C|||||2416|,G|3_prime_UTR_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000426209|nonsense_mediated_decay|2/4|n.*11T>C|||||11|,G|3_prime_UTR_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417489|nonsense_mediated_decay|2/4|n.*78T>C|||||78|,G|3_prime_UTR_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000418883|nonsense_mediated_decay|4/5|n.*65T>C|||||65|,G|downstream_gene_variant|MODIFIER|KB-226F1.1|ENSG00000272955|transcript|ENST00000608619|antisense||n.*650A>G|||||3200|,G|downstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000480898|retained_intron||n.*2066T>C|||||463|,G|downstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000428175|retained_intron||n.*566T>C|||||2110|,G|downstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000447865|protein_coding||c.*559T>C|||||2294|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000486544|retained_intron||n.*586T>C|||||3522|,G|intron_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417831|nonsense_mediated_decay|1/2|n.113-2413T>C||||||,G|intron_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417870|protein_coding|1/1|c.113-2794T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000426209|nonsense_mediated_decay|2/4|n.*11T>C||||||,G|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000458231|nonsense_mediated_decay|3/5|n.240T>C||||||,G|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417489|nonsense_mediated_decay|2/4|n.*78T>C||||||,G|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000418883|nonsense_mediated_decay|4/5|n.*65T>C|||||| 22 24379487 . C T . . ANN=T|synonymous_variant|LOW|GSTT1|ENSG00000184674|transcript|ENST00000248935|protein_coding|3/5|c.225G>A|p.Thr75Thr|278/1066|225/723|75/240||,T|synonymous_variant|LOW|GSTT1|ENSG00000184674|transcript|ENST00000436103|protein_coding|1/2|c.6G>A|p.Thr2Thr|6/617|6/327|2/108||,T|sequence_feature|LOW|GSTT1|ENSG00000184674|domain:GST_N-terminal|ENST00000248935|protein_coding|2/5|c.225G>A||||||,T|sequence_feature|LOW|GSTT1|ENSG00000184674|domain:GST_N-terminal|ENST00000248935|protein_coding|1/5|c.225G>A||||||,T|sequence_feature|LOW|GSTT1|ENSG00000184674|domain:GST_N-terminal|ENST00000248935|protein_coding|3/5|c.225G>A||||||,T|sequence_feature|LOW|GSTT1|ENSG00000184674|helix|ENST00000248935|protein_coding|2/5|c.225G>A||||||,T|sequence_feature|LOW|GSTT1|ENSG00000184674|helix|ENST00000248935|protein_coding|3/5|c.225G>A||||||,T|5_prime_UTR_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000439996|protein_coding|2/4|c.-130G>A|||||2492|,T|3_prime_UTR_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417489|nonsense_mediated_decay|2/4|n.*2G>A|||||2|,T|downstream_gene_variant|MODIFIER|KB-226F1.1|ENSG00000272955|transcript|ENST00000608619|antisense||n.*650C>T|||||3276|,T|downstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000480898|retained_intron||n.*2066G>A|||||387|,T|downstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000428175|retained_intron||n.*566G>A|||||2034|,T|downstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000447865|protein_coding||c.*559G>A|||||2218|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000486544|retained_intron||n.*586G>A|||||3446|,T|intron_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417831|nonsense_mediated_decay|1/2|n.113-2489G>A||||||,T|intron_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000426209|nonsense_mediated_decay|1/3|n.113-37G>A||||||,T|intron_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000458231|nonsense_mediated_decay|2/4|n.201-37G>A||||||,T|intron_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417870|protein_coding|1/1|c.113-2870G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417489|nonsense_mediated_decay|2/4|n.*2G>A||||||,T|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000418883|nonsense_mediated_decay|4/5|n.334G>A|||||| 22 24381773 . C T . . ANN=T|missense_variant|MODERATE|GSTT1|ENSG00000184674|transcript|ENST00000248935|protein_coding|2/5|c.127G>A|p.Asp43Asn|180/1066|127/723|43/240||,T|missense_variant|MODERATE|GSTT1|ENSG00000184674|transcript|ENST00000447865|protein_coding|3/3|c.127G>A|p.Asp43Asn|491/559|127/195|43/64||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|GSTT1|ENSG00000184674|domain:GST_N-terminal|ENST00000248935|protein_coding|2/5|c.127G>A||||||,T|sequence_feature|LOW|GSTT1|ENSG00000184674|domain:GST_N-terminal|ENST00000248935|protein_coding|1/5|c.127G>A||||||,T|sequence_feature|LOW|GSTT1|ENSG00000184674|domain:GST_N-terminal|ENST00000248935|protein_coding|3/5|c.127G>A||||||,T|sequence_feature|LOW|GSTT1|ENSG00000184674|helix|ENST00000248935|protein_coding|2/5|c.127G>A||||||,T|upstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000436103|protein_coding||c.-1G>A|||||2281|,T|downstream_gene_variant|MODIFIER|GSTTP2|ENSG00000239334|transcript|ENST00000485225|transcribed_unprocessed_pseudogene||n.*2070G>A|||||4165|,T|downstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000486544|retained_intron||n.*586G>A|||||1160|,T|intron_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417831|nonsense_mediated_decay|1/2|n.112+2347G>A||||||,T|intron_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000426209|nonsense_mediated_decay|1/3|n.113-2323G>A||||||,T|intron_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417489|nonsense_mediated_decay|1/3|n.113-2262G>A||||||,T|intron_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000439996|protein_coding|1/3|c.-154-2262G>A||||||,T|intron_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417870|protein_coding|1/1|c.112+2347G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000458231|nonsense_mediated_decay|2/5|n.127G>A||||||,T|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000418883|nonsense_mediated_decay|3/5|n.236G>A||||||,T|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000480898|retained_intron|2/2|n.167G>A||||||,T|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000428175|retained_intron|2/2|n.314G>A|||||| 22 24381811 . G A . . ANN=A|sequence_feature|LOW|GSTT1|ENSG00000184674|domain:GST_N-terminal|ENST00000248935|protein_coding|2/5|c.113-24C>T||||||,A|sequence_feature|LOW|GSTT1|ENSG00000184674|domain:GST_N-terminal|ENST00000248935|protein_coding|1/5|c.113-24C>T||||||,A|sequence_feature|LOW|GSTT1|ENSG00000184674|domain:GST_N-terminal|ENST00000248935|protein_coding|3/5|c.113-24C>T||||||,A|upstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000436103|protein_coding||c.-1C>T|||||2319|,A|downstream_gene_variant|MODIFIER|GSTTP2|ENSG00000239334|transcript|ENST00000485225|transcribed_unprocessed_pseudogene||n.*2070C>T|||||4127|,A|downstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000486544|retained_intron||n.*586C>T|||||1122|,A|intron_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000248935|protein_coding|1/4|c.113-24C>T||||||,A|intron_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417831|nonsense_mediated_decay|1/2|n.112+2309C>T||||||,A|intron_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000426209|nonsense_mediated_decay|1/3|n.112+2309C>T||||||,A|intron_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000458231|nonsense_mediated_decay|1/4|n.113-24C>T||||||,A|intron_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417489|nonsense_mediated_decay|1/3|n.113-2300C>T||||||,A|intron_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000439996|protein_coding|1/3|c.-154-2300C>T||||||,A|intron_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417870|protein_coding|1/1|c.112+2309C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000418883|nonsense_mediated_decay|2/4|n.222-24C>T||||||,A|intron_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000480898|retained_intron|1/1|n.153-24C>T||||||,A|intron_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000447865|protein_coding|2/2|c.113-24C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000428175|retained_intron|2/2|n.276C>T|||||| 22 24384219 . G A . . ANN=A|synonymous_variant|LOW|GSTT1|ENSG00000184674|transcript|ENST00000248935|protein_coding|1/5|c.13C>T|p.Leu5Leu|66/1066|13/723|5/240||,A|synonymous_variant|LOW|GSTT1|ENSG00000184674|transcript|ENST00000417870|protein_coding|1/2|c.13C>T|p.Leu5Leu|34/218|13/197|5/64||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|GSTT1|ENSG00000184674|transcript|ENST00000447865|protein_coding|2/3|c.13C>T|p.Leu5Leu|377/559|13/195|5/64||WARNING_TRANSCRIPT_NO_STOP_CODON,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|GSTT1|ENSG00000184674|transcript|ENST00000439996|protein_coding|1/4|c.-254C>T||||||,A|sequence_feature|LOW|GSTT1|ENSG00000184674|domain:GST_N-terminal|ENST00000248935|protein_coding|2/5|c.13C>T||||||,A|sequence_feature|LOW|GSTT1|ENSG00000184674|domain:GST_N-terminal|ENST00000248935|protein_coding|1/5|c.13C>T||||||,A|sequence_feature|LOW|GSTT1|ENSG00000184674|domain:GST_N-terminal|ENST00000248935|protein_coding|3/5|c.13C>T||||||,A|sequence_feature|LOW|GSTT1|ENSG00000184674|beta_strand|ENST00000248935|protein_coding|1/5|c.13C>T||||||,A|5_prime_UTR_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000439996|protein_coding|1/4|c.-254C>T|||||7224|,A|upstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000436103|protein_coding||c.-1C>T|||||4727|,A|downstream_gene_variant|MODIFIER|GSTTP2|ENSG00000239334|transcript|ENST00000485225|transcribed_unprocessed_pseudogene||n.*2070C>T|||||1719|,A|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417831|nonsense_mediated_decay|1/3|n.13C>T||||||,A|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000426209|nonsense_mediated_decay|1/4|n.13C>T||||||,A|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000458231|nonsense_mediated_decay|1/5|n.13C>T||||||,A|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417489|nonsense_mediated_decay|1/4|n.13C>T||||||,A|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000418883|nonsense_mediated_decay|1/5|n.13C>T||||||,A|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000480898|retained_intron|1/2|n.53C>T||||||,A|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000428175|retained_intron|1/2|n.53C>T||||||,A|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000486544|retained_intron|1/2|n.53C>T|||||| 22 24431941 . G A . . ANN=A|5_prime_UTR_premature_start_codon_gain_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|2/37|c.-25G>A||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000454754|protein_coding|2/9|c.-25G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|2/36|c.-25G>A||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000445422|protein_coding|2/9|c.-25G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|2/37|c.-25G>A||||||,A|5_prime_UTR_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|2/37|c.-25G>A|||||25|,A|5_prime_UTR_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000454754|protein_coding|2/9|c.-25G>A|||||25|WARNING_TRANSCRIPT_NO_STOP_CODON,A|5_prime_UTR_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|2/36|c.-25G>A|||||25|,A|5_prime_UTR_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000445422|protein_coding|2/9|c.-25G>A|||||25|WARNING_TRANSCRIPT_INCOMPLETE,A|5_prime_UTR_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|2/37|c.-25G>A|||||25| 22 24432541 . G A . . ANN=A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|3/37|c.8G>A|p.Arg3Gln|135/7222|8/6663|3/2220||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000454754|protein_coding|3/9|c.8G>A|p.Arg3Gln|258/1321|8/1071|3/356||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|3/36|c.8G>A|p.Arg3Gln|102/6952|8/6426|3/2141||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000445422|protein_coding|3/9|c.8G>A|p.Arg3Gln|395/1472|8/1085|3/360||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|3/37|c.8G>A|p.Arg3Gln|393/7480|8/6663|3/2220|| 22 24434748 . A G . . ANN=G|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|3/36|c.97-48A>G||||||,G|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000454754|protein_coding|3/8|c.97-48A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|3/35|c.97-48A>G||||||,G|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000445422|protein_coding|3/8|c.97-48A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|3/36|c.97-48A>G|||||| 22 24434779 . C T . . ANN=T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|3/36|c.97-17C>T||||||,T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000454754|protein_coding|3/8|c.97-17C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|3/35|c.97-17C>T||||||,T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000445422|protein_coding|3/8|c.97-17C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|3/36|c.97-17C>T|||||| 22 24434850 . C T . . ANN=T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|4/37|c.151C>T|p.Arg51Trp|278/7222|151/6663|51/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000454754|protein_coding|4/9|c.151C>T|p.Arg51Trp|401/1321|151/1071|51/356||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|4/36|c.151C>T|p.Arg51Trp|245/6952|151/6426|51/2141||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000445422|protein_coding|4/9|c.151C>T|p.Arg51Trp|538/1472|151/1085|51/360||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|4/37|c.151C>T|p.Arg51Trp|536/7480|151/6663|51/2220||,T|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_1|ENST00000263119|protein_coding|4/37|c.151C>T||||||,T|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_1|ENST00000405822|protein_coding|4/36|c.151C>T|||||| 22 24434944 . T A . . ANN=A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|4/36|c.210+35T>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000454754|protein_coding|4/8|c.210+35T>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|4/35|c.210+35T>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000445422|protein_coding|4/8|c.210+35T>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|4/36|c.210+35T>A|||||| 22 24434951 . T C . . ANN=C|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|4/36|c.210+42T>C||||||,C|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000454754|protein_coding|4/8|c.210+42T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|4/35|c.210+42T>C||||||,C|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000445422|protein_coding|4/8|c.210+42T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|4/36|c.210+42T>C|||||| 22 24437588 . C A . . ANN=A|missense_variant&splice_region_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|5/37|c.212C>A|p.Ala71Glu|339/7222|212/6663|71/2220||,A|missense_variant&splice_region_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|5/36|c.212C>A|p.Ala71Glu|306/6952|212/6426|71/2141||,A|missense_variant&splice_region_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|5/37|c.212C>A|p.Ala71Glu|597/7480|212/6663|71/2220||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000454754|protein_coding|4/8|c.211-1778C>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000445422|protein_coding|4/8|c.211-1778C>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 24437770 . G A . . ANN=A|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_2|ENST00000263119|protein_coding|5/37|c.345+49G>A||||||,A|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_2|ENST00000263119|protein_coding|6/37|c.345+49G>A||||||,A|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_2|ENST00000405822|protein_coding|5/36|c.345+49G>A||||||,A|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_2|ENST00000405822|protein_coding|6/36|c.345+49G>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|5/36|c.345+49G>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000454754|protein_coding|4/8|c.211-1596G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|5/35|c.345+49G>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000445422|protein_coding|4/8|c.211-1596G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|5/36|c.345+49G>A|||||| 22 24439328 . GTGTGTGTGTGTT G . . ANN=|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_2|ENST00000263119|protein_coding|5/37|c.346-37_346-26delTGTGTGTGTGTT||||||,|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_2|ENST00000263119|protein_coding|6/37|c.346-37_346-26delTGTGTGTGTGTT||||||,|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_2|ENST00000405822|protein_coding|5/36|c.346-37_346-26delTGTGTGTGTGTT||||||,|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_2|ENST00000405822|protein_coding|6/36|c.346-37_346-26delTGTGTGTGTGTT||||||,|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|5/36|c.346-35_346-24delTGTGTGTGTTTG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000454754|protein_coding|4/8|c.211-35_211-24delTGTGTGTGTTTG||||||WARNING_TRANSCRIPT_NO_STOP_CODON&INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|5/35|c.346-35_346-24delTGTGTGTGTTTG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000445422|protein_coding|4/8|c.211-35_211-24delTGTGTGTGTTTG||||||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|5/36|c.346-35_346-24delTGTGTGTGTTTG||||||INFO_REALIGN_3_PRIME 22 24439338 . GTT G . . ANN=|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_2|ENST00000263119|protein_coding|5/37|c.346-27_346-26delTT||||||,|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_2|ENST00000263119|protein_coding|6/37|c.346-27_346-26delTT||||||,|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_2|ENST00000405822|protein_coding|5/36|c.346-27_346-26delTT||||||,|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_2|ENST00000405822|protein_coding|6/36|c.346-27_346-26delTT||||||,|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|5/36|c.346-26_346-25delTT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000454754|protein_coding|4/8|c.211-26_211-25delTT||||||WARNING_TRANSCRIPT_NO_STOP_CODON&INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|5/35|c.346-26_346-25delTT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000445422|protein_coding|4/8|c.211-26_211-25delTT||||||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|5/36|c.346-26_346-25delTT||||||INFO_REALIGN_3_PRIME 22 24439560 . T TGA . . ANN=GA|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|6/36|c.526+15_526+16dupGA||||||INFO_REALIGN_3_PRIME,GA|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000454754|protein_coding|5/8|c.391+15_391+16dupGA||||||WARNING_TRANSCRIPT_NO_STOP_CODON&INFO_REALIGN_3_PRIME,GA|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|6/35|c.526+15_526+16dupGA||||||INFO_REALIGN_3_PRIME,GA|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000445422|protein_coding|5/8|c.391+15_391+16dupGA||||||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME,GA|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|6/36|c.526+15_526+16dupGA||||||INFO_REALIGN_3_PRIME 22 24439576 . G A . . ANN=A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|6/36|c.526+30G>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000454754|protein_coding|5/8|c.391+30G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|6/35|c.526+30G>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000445422|protein_coding|5/8|c.391+30G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|6/36|c.526+30G>A|||||| 22 24445555 . T A . . ANN=A|missense_variant&splice_region_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|7/37|c.529T>A|p.Cys177Ser|656/7222|529/6663|177/2220||,A|missense_variant&splice_region_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000454754|protein_coding|6/9|c.394T>A|p.Cys132Ser|644/1321|394/1071|132/356||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant&splice_region_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|7/36|c.529T>A|p.Cys177Ser|623/6952|529/6426|177/2141||,A|missense_variant&splice_region_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000445422|protein_coding|6/9|c.394T>A|p.Cys132Ser|781/1472|394/1085|132/360||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant&splice_region_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|7/37|c.529T>A|p.Cys177Ser|914/7480|529/6663|177/2220|| 22 24447272 . C T . . ANN=T|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000474981|retained_intron||n.-1C>T|||||4259|,T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|7/36|c.657-15C>T||||||,T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000454754|protein_coding|6/8|c.522-15C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|7/35|c.656+1590C>T||||||,T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000445422|protein_coding|6/8|c.522-15C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|7/36|c.657-15C>T|||||| 22 24447303 . G A . . ANN=A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|8/37|c.673G>A|p.Asp225Asn|800/7222|673/6663|225/2220||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000454754|protein_coding|7/9|c.538G>A|p.Asp180Asn|788/1321|538/1071|180/356||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000445422|protein_coding|7/9|c.538G>A|p.Asp180Asn|925/1472|538/1085|180/360||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|8/37|c.673G>A|p.Asp225Asn|1058/7480|673/6663|225/2220||,A|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000474981|retained_intron||n.-1G>A|||||4228|,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|7/35|c.656+1621G>A|||||| 22 24447387 . C T . . ANN=T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|8/37|c.757C>T|p.Arg253Trp|884/7222|757/6663|253/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000454754|protein_coding|7/9|c.622C>T|p.Arg208Trp|872/1321|622/1071|208/356||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000445422|protein_coding|7/9|c.622C>T|p.Arg208Trp|1009/1472|622/1085|208/360||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|8/37|c.757C>T|p.Arg253Trp|1142/7480|757/6663|253/2220||,T|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000474981|retained_intron||n.-1C>T|||||4144|,T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|7/35|c.656+1705C>T|||||| 22 24447436 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|8/37|c.806C>T|p.Thr269Ile|933/7222|806/6663|269/2220||,T|missense_variant&splice_region_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000454754|protein_coding|7/9|c.671C>T|p.Thr224Ile|921/1321|671/1071|224/356||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant&splice_region_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000445422|protein_coding|7/9|c.671C>T|p.Thr224Ile|1058/1472|671/1085|224/360||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant&splice_region_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|8/37|c.806C>T|p.Thr269Ile|1191/7480|806/6663|269/2220||,T|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000474981|retained_intron||n.-1C>T|||||4095|,T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|7/35|c.656+1754C>T|||||| 22 24447470 . C T . . ANN=T|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000474981|retained_intron||n.-1C>T|||||4061|,T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|8/36|c.806+34C>T||||||,T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000454754|protein_coding|7/8|c.671+34C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|7/35|c.656+1788C>T||||||,T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000445422|protein_coding|7/8|c.671+34C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|8/36|c.806+34C>T|||||| 22 24451381 . C T . . ANN=T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|9/37|c.852C>T|p.Leu284Leu|979/7222|852/6663|284/2220||,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000454754|protein_coding|8/9|c.717C>T|p.Leu239Leu|967/1321|717/1071|239/356||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|8/36|c.702C>T|p.Leu234Leu|796/6952|702/6426|234/2141||,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000445422|protein_coding|8/9|c.717C>T|p.Leu239Leu|1104/1472|717/1085|239/360||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|9/37|c.852C>T|p.Leu284Leu|1237/7480|852/6663|284/2220||,T|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000474981|retained_intron||n.-1C>T|||||150| 22 24451389 . G A . . ANN=A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|9/37|c.860G>A|p.Cys287Tyr|987/7222|860/6663|287/2220||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000454754|protein_coding|8/9|c.725G>A|p.Cys242Tyr|975/1321|725/1071|242/356||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|8/36|c.710G>A|p.Cys237Tyr|804/6952|710/6426|237/2141||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000445422|protein_coding|8/9|c.725G>A|p.Cys242Tyr|1112/1472|725/1085|242/360||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|9/37|c.860G>A|p.Cys287Tyr|1245/7480|860/6663|287/2220||,A|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000474981|retained_intron||n.-1G>A|||||142| 22 24451399 . A G . . ANN=G|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|9/37|c.870A>G|p.Pro290Pro|997/7222|870/6663|290/2220||,G|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000454754|protein_coding|8/9|c.735A>G|p.Pro245Pro|985/1321|735/1071|245/356||WARNING_TRANSCRIPT_NO_STOP_CODON,G|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|8/36|c.720A>G|p.Pro240Pro|814/6952|720/6426|240/2141||,G|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000445422|protein_coding|8/9|c.735A>G|p.Pro245Pro|1122/1472|735/1085|245/360||WARNING_TRANSCRIPT_INCOMPLETE,G|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|9/37|c.870A>G|p.Pro290Pro|1255/7480|870/6663|290/2220||,G|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000474981|retained_intron||n.-1A>G|||||132| 22 24451432 . G A . . ANN=A|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|9/37|c.903G>A|p.Ser301Ser|1030/7222|903/6663|301/2220||,A|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000454754|protein_coding|8/9|c.768G>A|p.Ser256Ser|1018/1321|768/1071|256/356||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|8/36|c.753G>A|p.Ser251Ser|847/6952|753/6426|251/2141||,A|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000445422|protein_coding|8/9|c.768G>A|p.Ser256Ser|1155/1472|768/1085|256/360||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|9/37|c.903G>A|p.Ser301Ser|1288/7480|903/6663|301/2220||,A|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000474981|retained_intron||n.-1G>A|||||99| 22 24451450 . C T . . ANN=T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|9/37|c.921C>T|p.Ser307Ser|1048/7222|921/6663|307/2220||,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000454754|protein_coding|8/9|c.786C>T|p.Ser262Ser|1036/1321|786/1071|262/356||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|8/36|c.771C>T|p.Ser257Ser|865/6952|771/6426|257/2141||,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000445422|protein_coding|8/9|c.786C>T|p.Ser262Ser|1173/1472|786/1085|262/360||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|9/37|c.921C>T|p.Ser307Ser|1306/7480|921/6663|307/2220||,T|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000474981|retained_intron||n.-1C>T|||||81| 22 24451454 . C T . . ANN=T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|9/37|c.925C>T|p.Pro309Ser|1052/7222|925/6663|309/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000454754|protein_coding|8/9|c.790C>T|p.Pro264Ser|1040/1321|790/1071|264/356||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|8/36|c.775C>T|p.Pro259Ser|869/6952|775/6426|259/2141||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000445422|protein_coding|8/9|c.790C>T|p.Pro264Ser|1177/1472|790/1085|264/360||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|9/37|c.925C>T|p.Pro309Ser|1310/7480|925/6663|309/2220||,T|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000474981|retained_intron||n.-1C>T|||||77| 22 24451504 . C A . . ANN=A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|9/37|c.975C>A|p.Ser325Arg|1102/7222|975/6663|325/2220||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000454754|protein_coding|8/9|c.840C>A|p.Ser280Arg|1090/1321|840/1071|280/356||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|8/36|c.825C>A|p.Ser275Arg|919/6952|825/6426|275/2141||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000445422|protein_coding|8/9|c.840C>A|p.Ser280Arg|1227/1472|840/1085|280/360||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|9/37|c.975C>A|p.Ser325Arg|1360/7480|975/6663|325/2220||,A|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000474981|retained_intron||n.-1C>A|||||27| 22 24451580 . C T . . ANN=T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|9/37|c.1051C>T|p.Pro351Ser|1178/7222|1051/6663|351/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000454754|protein_coding|8/9|c.916C>T|p.Pro306Ser|1166/1321|916/1071|306/356||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|8/36|c.901C>T|p.Pro301Ser|995/6952|901/6426|301/2141||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000445422|protein_coding|8/9|c.916C>T|p.Pro306Ser|1303/1472|916/1085|306/360||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|9/37|c.1051C>T|p.Pro351Ser|1436/7480|1051/6663|351/2220||,T|non_coding_exon_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000474981|retained_intron|1/2|n.50C>T|||||| 22 24451612 . C T . . ANN=T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|9/37|c.1083C>T|p.Gly361Gly|1210/7222|1083/6663|361/2220||,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000454754|protein_coding|8/9|c.948C>T|p.Gly316Gly|1198/1321|948/1071|316/356||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|8/36|c.933C>T|p.Gly311Gly|1027/6952|933/6426|311/2141||,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000445422|protein_coding|8/9|c.948C>T|p.Gly316Gly|1335/1472|948/1085|316/360||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|9/37|c.1083C>T|p.Gly361Gly|1468/7480|1083/6663|361/2220||,T|non_coding_exon_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000474981|retained_intron|1/2|n.82C>T|||||| 22 24452809 . G A . . ANN=A|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|10/37|c.1248G>A|p.Lys416Lys|1375/7222|1248/6663|416/2220||,A|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|9/36|c.1098G>A|p.Lys366Lys|1192/6952|1098/6426|366/2141||,A|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|10/37|c.1248G>A|p.Lys416Lys|1633/7480|1248/6663|416/2220||,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000454754|protein_coding||c.*1321G>A|||||42|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000445422|protein_coding||c.*1472G>A|||||28|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000474981|retained_intron|2/2|n.247G>A|||||| 22 24452833 . A G . . ANN=G|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000454754|protein_coding||c.*1321A>G|||||66|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000445422|protein_coding||c.*1472A>G|||||52|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|10/36|c.1262+10A>G||||||,G|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|9/35|c.1112+10A>G||||||,G|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|10/36|c.1262+10A>G||||||,G|non_coding_exon_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000474981|retained_intron|2/2|n.271A>G|||||| 22 24455661 . A C . . ANN=C|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000454754|protein_coding||c.*1321A>C|||||2894|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000445422|protein_coding||c.*1472A>C|||||2880|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000474981|retained_intron||n.*426A>C|||||2673|,C|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|10/36|c.1263-29A>C||||||,C|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|9/35|c.1113-29A>C||||||,C|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|10/36|c.1263-29A>C|||||| 22 24455841 . G A . . ANN=A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000454754|protein_coding||c.*1321G>A|||||3074|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000445422|protein_coding||c.*1472G>A|||||3060|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000474981|retained_intron||n.*426G>A|||||2853|,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|11/36|c.1399+15G>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|10/35|c.1249+15G>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|11/36|c.1399+15G>A|||||| 22 24456359 . A G . . ANN=G|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000454754|protein_coding||c.*1321A>G|||||3592|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000445422|protein_coding||c.*1472A>G|||||3578|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000474981|retained_intron||n.*426A>G|||||3371|,G|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|11/36|c.1400-28A>G||||||,G|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|10/35|c.1250-28A>G||||||,G|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|11/36|c.1400-28A>G|||||| 22 24456473 . G A . . ANN=A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|12/37|c.1486G>A|p.Gly496Ser|1613/7222|1486/6663|496/2220||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|11/36|c.1336G>A|p.Gly446Ser|1430/6952|1336/6426|446/2141||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|12/37|c.1486G>A|p.Gly496Ser|1871/7480|1486/6663|496/2220||,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000454754|protein_coding||c.*1321G>A|||||3706|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000445422|protein_coding||c.*1472G>A|||||3692|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000474981|retained_intron||n.*426G>A|||||3485| 22 24456512 . G A . . ANN=A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|12/37|c.1525G>A|p.Glu509Lys|1652/7222|1525/6663|509/2220||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|11/36|c.1375G>A|p.Glu459Lys|1469/6952|1375/6426|459/2141||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|12/37|c.1525G>A|p.Glu509Lys|1910/7480|1525/6663|509/2220||,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000454754|protein_coding||c.*1321G>A|||||3745|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000445422|protein_coding||c.*1472G>A|||||3731|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000474981|retained_intron||n.*426G>A|||||3524| 22 24456518 . G A . . ANN=A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|12/37|c.1531G>A|p.Val511Met|1658/7222|1531/6663|511/2220||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|11/36|c.1381G>A|p.Val461Met|1475/6952|1381/6426|461/2141||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|12/37|c.1531G>A|p.Val511Met|1916/7480|1531/6663|511/2220||,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000454754|protein_coding||c.*1321G>A|||||3751|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000445422|protein_coding||c.*1472G>A|||||3737|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000474981|retained_intron||n.*426G>A|||||3530| 22 24458502 . T C . . ANN=C|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000484593|retained_intron||n.-1T>C|||||4454|,C|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|13/36|c.1696+14T>C||||||,C|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|12/35|c.1546+14T>C||||||,C|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|13/36|c.1696+14T>C|||||| 22 24459401 . C T . . ANN=T|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000484593|retained_intron||n.-1C>T|||||3555|,T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|13/36|c.1697-21C>T||||||,T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|12/35|c.1547-21C>T||||||,T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|13/36|c.1697-21C>T|||||| 22 24459438 . T C . . ANN=C|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|14/37|c.1713T>C|p.Cys571Cys|1840/7222|1713/6663|571/2220||,C|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|13/36|c.1563T>C|p.Cys521Cys|1657/6952|1563/6426|521/2141||,C|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|14/37|c.1713T>C|p.Cys571Cys|2098/7480|1713/6663|571/2220||,C|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000484593|retained_intron||n.-1T>C|||||3518| 22 24459474 . C T . . ANN=T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|14/37|c.1749C>T|p.Asp583Asp|1876/7222|1749/6663|583/2220||,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|13/36|c.1599C>T|p.Asp533Asp|1693/6952|1599/6426|533/2141||,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|14/37|c.1749C>T|p.Asp583Asp|2134/7480|1749/6663|583/2220||,T|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000484593|retained_intron||n.-1C>T|||||3482| 22 24459511 . C T . . ANN=T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|14/37|c.1786C>T|p.Leu596Leu|1913/7222|1786/6663|596/2220||,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|13/36|c.1636C>T|p.Leu546Leu|1730/6952|1636/6426|546/2141||,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|14/37|c.1786C>T|p.Leu596Leu|2171/7480|1786/6663|596/2220||,T|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000484593|retained_intron||n.-1C>T|||||3445| 22 24459522 . C T . . ANN=T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|14/37|c.1797C>T|p.Ala599Ala|1924/7222|1797/6663|599/2220||,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|13/36|c.1647C>T|p.Ala549Ala|1741/6952|1647/6426|549/2141||,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|14/37|c.1797C>T|p.Ala599Ala|2182/7480|1797/6663|599/2220||,T|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000484593|retained_intron||n.-1C>T|||||3434| 22 24459652 . C T . . ANN=T|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_4|ENST00000263119|protein_coding|14/37|c.1884+43C>T||||||,T|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_4|ENST00000263119|protein_coding|15/37|c.1884+43C>T||||||,T|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_4|ENST00000405822|protein_coding|13/36|c.1734+43C>T||||||,T|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_4|ENST00000405822|protein_coding|14/36|c.1734+43C>T||||||,T|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000484593|retained_intron||n.-1C>T|||||3304|,T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|14/36|c.1884+43C>T||||||,T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|13/35|c.1734+43C>T||||||,T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|14/36|c.1884+43C>T|||||| 22 24459656 . C T . . ANN=T|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_4|ENST00000263119|protein_coding|14/37|c.1884+47C>T||||||,T|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_4|ENST00000263119|protein_coding|15/37|c.1884+47C>T||||||,T|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_4|ENST00000405822|protein_coding|13/36|c.1734+47C>T||||||,T|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_4|ENST00000405822|protein_coding|14/36|c.1734+47C>T||||||,T|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000484593|retained_intron||n.-1C>T|||||3300|,T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|14/36|c.1884+47C>T||||||,T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|13/35|c.1734+47C>T||||||,T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|14/36|c.1884+47C>T|||||| 22 24460450 . TAGTC T . . ANN=|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_4|ENST00000263119|protein_coding|14/37|c.1885-47_1885-44delAGTC||||||,|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_4|ENST00000263119|protein_coding|15/37|c.1885-47_1885-44delAGTC||||||,|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_4|ENST00000405822|protein_coding|13/36|c.1735-47_1735-44delAGTC||||||,|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_4|ENST00000405822|protein_coding|14/36|c.1735-47_1735-44delAGTC||||||,|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000484593|retained_intron||n.-1_-1delAGTC|||||2505|,|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|14/36|c.1885-43_1885-40delAGTC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|13/35|c.1735-43_1735-40delAGTC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|14/36|c.1885-43_1885-40delAGTC||||||INFO_REALIGN_3_PRIME 22 24460548 . C A . . ANN=A|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|15/37|c.1935C>A|p.Leu645Leu|2062/7222|1935/6663|645/2220||,A|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|14/36|c.1785C>A|p.Leu595Leu|1879/6952|1785/6426|595/2141||,A|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|15/37|c.1935C>A|p.Leu645Leu|2320/7480|1935/6663|645/2220||,A|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_4|ENST00000263119|protein_coding|14/37|c.1935C>A||||||,A|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_4|ENST00000263119|protein_coding|15/37|c.1935C>A||||||,A|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_4|ENST00000405822|protein_coding|13/36|c.1785C>A||||||,A|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_4|ENST00000405822|protein_coding|14/36|c.1785C>A||||||,A|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000484593|retained_intron||n.-1C>A|||||2408| 22 24460560 . C T . . ANN=T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|15/37|c.1947C>T|p.Thr649Thr|2074/7222|1947/6663|649/2220||,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|14/36|c.1797C>T|p.Thr599Thr|1891/6952|1797/6426|599/2141||,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|15/37|c.1947C>T|p.Thr649Thr|2332/7480|1947/6663|649/2220||,T|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000484593|retained_intron||n.-1C>T|||||2396| 22 24460593 . A C . . ANN=C|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|15/37|c.1980A>C|p.Arg660Ser|2107/7222|1980/6663|660/2220||,C|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|14/36|c.1830A>C|p.Arg610Ser|1924/6952|1830/6426|610/2141||,C|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|15/37|c.1980A>C|p.Arg660Ser|2365/7480|1980/6663|660/2220||,C|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000484593|retained_intron||n.-1A>C|||||2363| 22 24460606 . C T . . ANN=T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|15/37|c.1993C>T|p.Arg665Trp|2120/7222|1993/6663|665/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|14/36|c.1843C>T|p.Arg615Trp|1937/6952|1843/6426|615/2141||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|15/37|c.1993C>T|p.Arg665Trp|2378/7480|1993/6663|665/2220||,T|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000484593|retained_intron||n.-1C>T|||||2350| 22 24463123 . T G . . ANN=G|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|16/37|c.2223T>G|p.Leu741Leu|2350/7222|2223/6663|741/2220||,G|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|15/36|c.2073T>G|p.Leu691Leu|2167/6952|2073/6426|691/2141||,G|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|16/37|c.2223T>G|p.Leu741Leu|2608/7480|2223/6663|741/2220||,G|non_coding_exon_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000484593|retained_intron|1/2|n.168T>G|||||| 22 24466964 . C T . . ANN=T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|17/37|c.2446C>T|p.Leu816Phe|2573/7222|2446/6663|816/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|16/36|c.2296C>T|p.Leu766Phe|2390/6952|2296/6426|766/2141||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|17/37|c.2446C>T|p.Leu816Phe|2831/7480|2446/6663|816/2220||,T|non_coding_exon_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000484593|retained_intron|2/2|n.391C>T|||||| 22 24466967 . G A . . ANN=A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|17/37|c.2449G>A|p.Val817Met|2576/7222|2449/6663|817/2220||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|16/36|c.2299G>A|p.Val767Met|2393/6952|2299/6426|767/2141||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|17/37|c.2449G>A|p.Val817Met|2834/7480|2449/6663|817/2220||,A|non_coding_exon_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000484593|retained_intron|2/2|n.394G>A|||||| 22 24467022 . C T . . ANN=T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|17/36|c.2475+29C>T||||||,T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|16/35|c.2325+29C>T||||||,T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|17/36|c.2475+29C>T||||||,T|non_coding_exon_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000484593|retained_intron|2/2|n.449C>T|||||| 22 24468346 . C G . . ANN=G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|18/37|c.2518C>G|p.Pro840Ala|2645/7222|2518/6663|840/2220||,G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|17/36|c.2368C>G|p.Pro790Ala|2462/6952|2368/6426|790/2141||,G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|18/37|c.2518C>G|p.Pro840Ala|2903/7480|2518/6663|840/2220||,G|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000484593|retained_intron||n.*561C>G|||||1212| 22 24468386 . G A . . ANN=A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|18/37|c.2558G>A|p.Arg853Gln|2685/7222|2558/6663|853/2220||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|17/36|c.2408G>A|p.Arg803Gln|2502/6952|2408/6426|803/2141||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|18/37|c.2558G>A|p.Arg853Gln|2943/7480|2558/6663|853/2220||,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000484593|retained_intron||n.*561G>A|||||1252| 22 24468448 . C T . . ANN=T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|18/37|c.2620C>T|p.Pro874Ser|2747/7222|2620/6663|874/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|17/36|c.2470C>T|p.Pro824Ser|2564/6952|2470/6426|824/2141||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|18/37|c.2620C>T|p.Pro874Ser|3005/7480|2620/6663|874/2220||,T|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000484593|retained_intron||n.*561C>T|||||1314| 22 24468449 . C T . . ANN=T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|18/37|c.2621C>T|p.Pro874Leu|2748/7222|2621/6663|874/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|17/36|c.2471C>T|p.Pro824Leu|2565/6952|2471/6426|824/2141||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|18/37|c.2621C>T|p.Pro874Leu|3006/7480|2621/6663|874/2220||,T|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000484593|retained_intron||n.*561C>T|||||1315| 22 24468452 . C T . . ANN=T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|18/37|c.2624C>T|p.Ala875Val|2751/7222|2624/6663|875/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|17/36|c.2474C>T|p.Ala825Val|2568/6952|2474/6426|825/2141||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|18/37|c.2624C>T|p.Ala875Val|3009/7480|2624/6663|875/2220||,T|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000484593|retained_intron||n.*561C>T|||||1318| 22 24472082 . A C . . ANN=C|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000484593|retained_intron||n.*561A>C|||||4948|,C|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|18/36|c.2633-36A>C||||||,C|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|17/35|c.2483-36A>C||||||,C|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|18/36|c.2633-36A>C|||||| 22 24472130 . C A . . ANN=A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|19/37|c.2645C>A|p.Thr882Lys|2772/7222|2645/6663|882/2220||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|18/36|c.2495C>A|p.Thr832Lys|2589/6952|2495/6426|832/2141||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|19/37|c.2645C>A|p.Thr882Lys|3030/7480|2645/6663|882/2220||,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000484593|retained_intron||n.*561C>A|||||4996| 22 24472135 . A G . . ANN=G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|19/37|c.2650A>G|p.Met884Val|2777/7222|2650/6663|884/2220||,G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|18/36|c.2500A>G|p.Met834Val|2594/6952|2500/6426|834/2141||,G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|19/37|c.2650A>G|p.Met884Val|3035/7480|2650/6663|884/2220|| 22 24472173 . C T . . ANN=T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|19/37|c.2688C>T|p.His896His|2815/7222|2688/6663|896/2220||,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|18/36|c.2538C>T|p.His846His|2632/6952|2538/6426|846/2141||,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|19/37|c.2688C>T|p.His896His|3073/7480|2688/6663|896/2220|| 22 24472264 . C T . . ANN=T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|19/36|c.2748+31C>T||||||,T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|18/35|c.2598+31C>T||||||,T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|19/36|c.2748+31C>T|||||| 22 24472269 . C G . . ANN=G|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|19/36|c.2748+36C>G||||||,G|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|18/35|c.2598+36C>G||||||,G|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|19/36|c.2748+36C>G|||||| 22 24472270 . A G . . ANN=G|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|19/36|c.2748+37A>G||||||,G|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|18/35|c.2598+37A>G||||||,G|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|19/36|c.2748+37A>G|||||| 22 24479150 . C T . . ANN=T|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000496016|retained_intron||n.-1C>T|||||4391|,T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|19/36|c.2749-31C>T||||||,T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|18/35|c.2599-31C>T||||||,T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|19/36|c.2749-31C>T|||||| 22 24479178 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|19/36|c.2749-3C>T||||||,T|splice_region_variant&intron_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|18/35|c.2599-3C>T||||||,T|splice_region_variant&intron_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|19/36|c.2749-3C>T||||||,T|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000496016|retained_intron||n.-1C>T|||||4363| 22 24479193 . C G . . ANN=G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|20/37|c.2761C>G|p.Gln921Glu|2888/7222|2761/6663|921/2220||,G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|19/36|c.2611C>G|p.Gln871Glu|2705/6952|2611/6426|871/2141||,G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|20/37|c.2761C>G|p.Gln921Glu|3146/7480|2761/6663|921/2220||,G|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000496016|retained_intron||n.-1C>G|||||4348| 22 24479288 . C G . . ANN=G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|20/37|c.2856C>G|p.Ser952Arg|2983/7222|2856/6663|952/2220||,G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|19/36|c.2706C>G|p.Ser902Arg|2800/6952|2706/6426|902/2141||,G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|20/37|c.2856C>G|p.Ser952Arg|3241/7480|2856/6663|952/2220||,G|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000496016|retained_intron||n.-1C>G|||||4253| 22 24479371 . G A . . ANN=A|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000496016|retained_intron||n.-1G>A|||||4170|,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|20/36|c.2910+29G>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|19/35|c.2760+29G>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|20/36|c.2910+29G>A|||||| 22 24480503 . G A . . ANN=A|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000496016|retained_intron||n.-1G>A|||||3038|,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|20/36|c.2911-29G>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|19/35|c.2761-29G>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|20/36|c.2911-29G>A|||||| 22 24480504 . C T . . ANN=T|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000496016|retained_intron||n.-1C>T|||||3037|,T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|20/36|c.2911-28C>T||||||,T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|19/35|c.2761-28C>T||||||,T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|20/36|c.2911-28C>T|||||| 22 24480717 . C T . . ANN=T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|21/37|c.3096C>T|p.Tyr1032Tyr|3223/7222|3096/6663|1032/2220||,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|20/36|c.2946C>T|p.Tyr982Tyr|3040/6952|2946/6426|982/2141||,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|21/37|c.3096C>T|p.Tyr1032Tyr|3481/7480|3096/6663|1032/2220||,T|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000496016|retained_intron||n.-1C>T|||||2824| 22 24480788 . TC T . . ANN=|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000496016|retained_intron||n.-1delC|||||2752|,|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|21/36|c.3117+52delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|20/35|c.2967+52delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|21/36|c.3117+52delC||||||INFO_REALIGN_3_PRIME 22 24481006 . C G . . ANN=G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|22/37|c.3165C>G|p.Asn1055Lys|3292/7222|3165/6663|1055/2220||,G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|21/36|c.3015C>G|p.Asn1005Lys|3109/6952|3015/6426|1005/2141||,G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|22/37|c.3165C>G|p.Asn1055Lys|3550/7480|3165/6663|1055/2220||,G|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_5|ENST00000263119|protein_coding|22/37|c.3165C>G||||||,G|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_5|ENST00000263119|protein_coding|23/37|c.3165C>G||||||,G|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_5|ENST00000405822|protein_coding|21/36|c.3015C>G||||||,G|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_5|ENST00000405822|protein_coding|22/36|c.3015C>G||||||,G|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000496016|retained_intron||n.-1C>G|||||2535| 22 24481078 . G T . . ANN=T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|22/37|c.3237G>T|p.Met1079Ile|3364/7222|3237/6663|1079/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|21/36|c.3087G>T|p.Met1029Ile|3181/6952|3087/6426|1029/2141||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|22/37|c.3237G>T|p.Met1079Ile|3622/7480|3237/6663|1079/2220||,T|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_5|ENST00000263119|protein_coding|22/37|c.3237G>T||||||,T|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_5|ENST00000263119|protein_coding|23/37|c.3237G>T||||||,T|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_5|ENST00000405822|protein_coding|21/36|c.3087G>T||||||,T|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_5|ENST00000405822|protein_coding|22/36|c.3087G>T||||||,T|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000496016|retained_intron||n.-1G>T|||||2463| 22 24483387 . C A . . ANN=A|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_5|ENST00000263119|protein_coding|22/37|c.3264-18C>A||||||,A|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_5|ENST00000263119|protein_coding|23/37|c.3264-18C>A||||||,A|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_5|ENST00000405822|protein_coding|21/36|c.3114-18C>A||||||,A|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_5|ENST00000405822|protein_coding|22/36|c.3114-18C>A||||||,A|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000496016|retained_intron||n.-1C>A|||||154|,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|22/36|c.3264-18C>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|21/35|c.3114-18C>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|22/36|c.3264-18C>A|||||| 22 24483459 . G A . . ANN=A|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|23/37|c.3318G>A|p.Lys1106Lys|3445/7222|3318/6663|1106/2220||,A|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|22/36|c.3168G>A|p.Lys1056Lys|3262/6952|3168/6426|1056/2141||,A|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|23/37|c.3318G>A|p.Lys1106Lys|3703/7480|3318/6663|1106/2220||,A|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_6|ENST00000263119|protein_coding|23/37|c.3318G>A||||||,A|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_6|ENST00000405822|protein_coding|22/36|c.3168G>A||||||,A|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000496016|retained_intron||n.-1G>A|||||82| 22 24483477 . G A . . ANN=A|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|23/37|c.3336G>A|p.Leu1112Leu|3463/7222|3336/6663|1112/2220||,A|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|22/36|c.3186G>A|p.Leu1062Leu|3280/6952|3186/6426|1062/2141||,A|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|23/37|c.3336G>A|p.Leu1112Leu|3721/7480|3336/6663|1112/2220||,A|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_6|ENST00000263119|protein_coding|23/37|c.3336G>A||||||,A|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_6|ENST00000405822|protein_coding|22/36|c.3186G>A||||||,A|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000496016|retained_intron||n.-1G>A|||||64| 22 24483493 . A G . . ANN=G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|23/37|c.3352A>G|p.Ile1118Val|3479/7222|3352/6663|1118/2220||,G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|22/36|c.3202A>G|p.Ile1068Val|3296/6952|3202/6426|1068/2141||,G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|23/37|c.3352A>G|p.Ile1118Val|3737/7480|3352/6663|1118/2220||,G|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_6|ENST00000263119|protein_coding|23/37|c.3352A>G||||||,G|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_6|ENST00000405822|protein_coding|22/36|c.3202A>G||||||,G|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000496016|retained_intron||n.-1A>G|||||48| 22 24483609 . C T . . ANN=T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|23/37|c.3468C>T|p.Phe1156Phe|3595/7222|3468/6663|1156/2220||,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|22/36|c.3318C>T|p.Phe1106Phe|3412/6952|3318/6426|1106/2141||,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|23/37|c.3468C>T|p.Phe1156Phe|3853/7480|3468/6663|1156/2220||,T|non_coding_exon_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000496016|retained_intron|1/2|n.69C>T|||||| 22 24483621 . A G . . ANN=G|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|23/37|c.3480A>G|p.Gln1160Gln|3607/7222|3480/6663|1160/2220||,G|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|22/36|c.3330A>G|p.Gln1110Gln|3424/6952|3330/6426|1110/2141||,G|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|23/37|c.3480A>G|p.Gln1160Gln|3865/7480|3480/6663|1160/2220||,G|non_coding_exon_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000496016|retained_intron|1/2|n.81A>G|||||| 22 24483708 . CCAGA C . . ANN=|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|23/36|c.3525+47_3525+50delCAGA||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|22/35|c.3375+47_3375+50delCAGA||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|23/36|c.3525+47_3525+50delCAGA||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000496016|retained_intron|1/1|n.126+47_126+50delCAGA||||||INFO_REALIGN_3_PRIME 22 24487508 . G T . . ANN=T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|23/36|c.3526-29G>T||||||,T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|22/35|c.3376-29G>T||||||,T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|23/36|c.3526-29G>T||||||,T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000496016|retained_intron|1/1|n.127-29G>T|||||| 22 24487546 . C T . . ANN=T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|24/37|c.3535C>T|p.Arg1179Trp|3662/7222|3535/6663|1179/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|23/36|c.3385C>T|p.Arg1129Trp|3479/6952|3385/6426|1129/2141||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|24/37|c.3535C>T|p.Arg1179Trp|3920/7480|3535/6663|1179/2220||,T|non_coding_exon_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000496016|retained_intron|2/2|n.136C>T|||||| 22 24487551 . C T . . ANN=T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|24/37|c.3540C>T|p.Arg1180Arg|3667/7222|3540/6663|1180/2220||,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|23/36|c.3390C>T|p.Arg1130Arg|3484/6952|3390/6426|1130/2141||,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|24/37|c.3540C>T|p.Arg1180Arg|3925/7480|3540/6663|1180/2220||,T|non_coding_exon_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000496016|retained_intron|2/2|n.141C>T|||||| 22 24487702 . A C . . ANN=C|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|24/37|c.3691A>C|p.Arg1231Arg|3818/7222|3691/6663|1231/2220||,C|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|23/36|c.3541A>C|p.Arg1181Arg|3635/6952|3541/6426|1181/2141||,C|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|24/37|c.3691A>C|p.Arg1231Arg|4076/7480|3691/6663|1231/2220||,C|non_coding_exon_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000496016|retained_intron|2/2|n.292A>C|||||| 22 24487713 . C T . . ANN=T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|24/37|c.3702C>T|p.Gly1234Gly|3829/7222|3702/6663|1234/2220||,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|23/36|c.3552C>T|p.Gly1184Gly|3646/6952|3552/6426|1184/2141||,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|24/37|c.3702C>T|p.Gly1234Gly|4087/7480|3702/6663|1234/2220||,T|non_coding_exon_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000496016|retained_intron|2/2|n.303C>T|||||| 22 24487738 . C T . . ANN=T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|24/37|c.3727C>T|p.Arg1243Cys|3854/7222|3727/6663|1243/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|23/36|c.3577C>T|p.Arg1193Cys|3671/6952|3577/6426|1193/2141||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|24/37|c.3727C>T|p.Arg1243Cys|4112/7480|3727/6663|1243/2220||,T|non_coding_exon_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000496016|retained_intron|2/2|n.328C>T|||||| 22 24487739 . G A . . ANN=A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|24/37|c.3728G>A|p.Arg1243His|3855/7222|3728/6663|1243/2220||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|23/36|c.3578G>A|p.Arg1193His|3672/6952|3578/6426|1193/2141||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|24/37|c.3728G>A|p.Arg1243His|4113/7480|3728/6663|1243/2220||,A|non_coding_exon_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000496016|retained_intron|2/2|n.329G>A|||||| 22 24491878 . G T . . ANN=T|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000467937|retained_intron||n.-1G>T|||||2198|,T|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000496016|retained_intron||n.*557G>T|||||3911|,T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|24/36|c.3787-16G>T||||||,T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|23/35|c.3637-16G>T||||||,T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|24/36|c.3787-16G>T|||||| 22 24492004 . T C . . ANN=C|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|25/37|c.3897T>C|p.Phe1299Phe|4024/7222|3897/6663|1299/2220||,C|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|24/36|c.3747T>C|p.Phe1249Phe|3841/6952|3747/6426|1249/2141||,C|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|25/37|c.3897T>C|p.Phe1299Phe|4282/7480|3897/6663|1299/2220||,C|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000467937|retained_intron||n.-1T>C|||||2072|,C|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000496016|retained_intron||n.*557T>C|||||4037| 22 24492061 . T C . . ANN=C|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000467937|retained_intron||n.-1T>C|||||2015|,C|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000496016|retained_intron||n.*557T>C|||||4094|,C|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|25/36|c.3938+16T>C||||||,C|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|24/35|c.3788+16T>C||||||,C|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|25/36|c.3938+16T>C|||||| 22 24493929 . A G . . ANN=G|upstream_gene_variant|MODIFIER|KB-318B8.7|ENSG00000232545|transcript|ENST00000444093|sense_intronic||n.-1A>G|||||3723|,G|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000467937|retained_intron||n.-1A>G|||||147|,G|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|25/36|c.3939-48A>G||||||,G|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|24/35|c.3789-48A>G||||||,G|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|25/36|c.3939-48A>G|||||| 22 24509492 . A G . . ANN=G|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|26/36|c.4118-41A>G||||||,G|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|25/35|c.3881-41A>G||||||,G|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|26/36|c.4118-41A>G||||||,G|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000467937|retained_intron|1/2|n.171-41A>G|||||| 22 24509512 . T C . . ANN=C|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|26/36|c.4118-21T>C||||||,C|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|25/35|c.3881-21T>C||||||,C|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|26/36|c.4118-21T>C||||||,C|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000467937|retained_intron|1/2|n.171-21T>C|||||| 22 24509530 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|26/36|c.4118-3C>T||||||,T|splice_region_variant&intron_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|25/35|c.3881-3C>T||||||,T|splice_region_variant&intron_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|26/36|c.4118-3C>T||||||,T|splice_region_variant&intron_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000467937|retained_intron|1/2|n.171-3C>T|||||| 22 24509662 . G A . . ANN=A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|27/37|c.4247G>A|p.Ser1416Asn|4374/7222|4247/6663|1416/2220||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|26/36|c.4010G>A|p.Ser1337Asn|4104/6952|4010/6426|1337/2141||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|27/37|c.4247G>A|p.Ser1416Asn|4632/7480|4247/6663|1416/2220||,A|non_coding_exon_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000467937|retained_intron|2/3|n.300G>A|||||| 22 24509680 . C T . . ANN=T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|27/37|c.4265C>T|p.Thr1422Met|4392/7222|4265/6663|1422/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|26/36|c.4028C>T|p.Thr1343Met|4122/6952|4028/6426|1343/2141||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|27/37|c.4265C>T|p.Thr1422Met|4650/7480|4265/6663|1422/2220||,T|non_coding_exon_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000467937|retained_intron|2/3|n.318C>T|||||| 22 24509711 . A G . . ANN=G|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|27/37|c.4296A>G|p.Glu1432Glu|4423/7222|4296/6663|1432/2220||,G|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|26/36|c.4059A>G|p.Glu1353Glu|4153/6952|4059/6426|1353/2141||,G|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|27/37|c.4296A>G|p.Glu1432Glu|4681/7480|4296/6663|1432/2220||,G|non_coding_exon_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000467937|retained_intron|2/3|n.349A>G|||||| 22 24509732 . C T . . ANN=T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|27/36|c.4300+17C>T||||||,T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|26/35|c.4063+17C>T||||||,T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|27/36|c.4300+17C>T||||||,T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000467937|retained_intron|2/2|n.353+17C>T|||||| 22 24509733 . G A . . ANN=A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|27/36|c.4300+18G>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|26/35|c.4063+18G>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|27/36|c.4300+18G>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000467937|retained_intron|2/2|n.353+18G>A|||||| 22 24515286 . C A . . ANN=A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|27/36|c.4301-48C>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|26/35|c.4064-48C>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|27/36|c.4301-48C>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000467937|retained_intron|2/2|n.354-48C>A|||||| 22 24515436 . G C . . ANN=C|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|28/37|c.4403G>C|p.Gly1468Ala|4530/7222|4403/6663|1468/2220||,C|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|27/36|c.4166G>C|p.Gly1389Ala|4260/6952|4166/6426|1389/2141||,C|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|28/37|c.4403G>C|p.Gly1468Ala|4788/7480|4403/6663|1468/2220||,C|non_coding_exon_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000467937|retained_intron|3/3|n.456G>C|||||| 22 24515581 . C T . . ANN=T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|28/37|c.4548C>T|p.Phe1516Phe|4675/7222|4548/6663|1516/2220||,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|27/36|c.4311C>T|p.Phe1437Phe|4405/6952|4311/6426|1437/2141||,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|28/37|c.4548C>T|p.Phe1516Phe|4933/7480|4548/6663|1516/2220||,T|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000467937|retained_intron||n.*593C>T|||||8| 22 24515679 . G A . . ANN=A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000467937|retained_intron||n.*593G>A|||||106|,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|28/36|c.4632+14G>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|27/35|c.4395+14G>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|28/36|c.4632+14G>A|||||| 22 24530259 . G T . . ANN=T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|28/36|c.4633-10G>T||||||,T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|27/35|c.4396-10G>T||||||,T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|28/36|c.4633-10G>T|||||| 22 24530286 . C T . . ANN=T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|29/37|c.4650C>T|p.Arg1550Arg|4777/7222|4650/6663|1550/2220||,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|28/36|c.4413C>T|p.Arg1471Arg|4507/6952|4413/6426|1471/2141||,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|29/37|c.4650C>T|p.Arg1550Arg|5035/7480|4650/6663|1550/2220|| 22 24530346 . G T . . ANN=T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|29/37|c.4710G>T|p.Gly1570Gly|4837/7222|4710/6663|1570/2220||,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|28/36|c.4473G>T|p.Gly1491Gly|4567/6952|4473/6426|1491/2141||,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|29/37|c.4710G>T|p.Gly1570Gly|5095/7480|4710/6663|1570/2220|| 22 24530355 . C A . . ANN=A|stop_gained|HIGH|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|29/37|c.4719C>A|p.Cys1573*|4846/7222|4719/6663|1573/2220||,A|stop_gained|HIGH|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|28/36|c.4482C>A|p.Cys1494*|4576/6952|4482/6426|1494/2141||,A|stop_gained|HIGH|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|29/37|c.4719C>A|p.Cys1573*|5104/7480|4719/6663|1573/2220||;LOF=(CABIN1|ENSG00000099991|13|0.23);NMD=(CABIN1|ENSG00000099991|13|0.23) 22 24560427 . G T . . ANN=T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|30/37|c.4806G>T|p.Met1602Ile|4933/7222|4806/6663|1602/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|29/36|c.4569G>T|p.Met1523Ile|4663/6952|4569/6426|1523/2141||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|30/37|c.4806G>T|p.Met1602Ile|5191/7480|4806/6663|1602/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|2/8|c.81G>T|p.Met27Ile|299/2422|81/1773|27/590||,T|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript||n.-1G>T|||||2764|,T|non_coding_exon_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000495121|processed_transcript|4/4|n.331G>T|||||| 22 24560439 . C T . . ANN=T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|30/37|c.4818C>T|p.Ile1606Ile|4945/7222|4818/6663|1606/2220||,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|29/36|c.4581C>T|p.Ile1527Ile|4675/6952|4581/6426|1527/2141||,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|30/37|c.4818C>T|p.Ile1606Ile|5203/7480|4818/6663|1606/2220||,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|2/8|c.93C>T|p.Ile31Ile|311/2422|93/1773|31/590||,T|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript||n.-1C>T|||||2752|,T|non_coding_exon_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000495121|processed_transcript|4/4|n.343C>T|||||| 22 24560478 . C T . . ANN=T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|30/37|c.4857C>T|p.His1619His|4984/7222|4857/6663|1619/2220||,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|29/36|c.4620C>T|p.His1540His|4714/6952|4620/6426|1540/2141||,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|30/37|c.4857C>T|p.His1619His|5242/7480|4857/6663|1619/2220||,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|2/8|c.132C>T|p.His44His|350/2422|132/1773|44/590||,T|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript||n.-1C>T|||||2713|,T|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000495121|processed_transcript||n.*361C>T|||||21| 22 24560481 . C T . . ANN=T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|30/37|c.4860C>T|p.Ser1620Ser|4987/7222|4860/6663|1620/2220||,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|29/36|c.4623C>T|p.Ser1541Ser|4717/6952|4623/6426|1541/2141||,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|30/37|c.4860C>T|p.Ser1620Ser|5245/7480|4860/6663|1620/2220||,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|2/8|c.135C>T|p.Ser45Ser|353/2422|135/1773|45/590||,T|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript||n.-1C>T|||||2710|,T|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000495121|processed_transcript||n.*361C>T|||||24| 22 24560517 . C A . . ANN=A|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|30/37|c.4896C>A|p.Thr1632Thr|5023/7222|4896/6663|1632/2220||,A|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|29/36|c.4659C>A|p.Thr1553Thr|4753/6952|4659/6426|1553/2141||,A|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|30/37|c.4896C>A|p.Thr1632Thr|5281/7480|4896/6663|1632/2220||,A|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|2/8|c.171C>A|p.Thr57Thr|389/2422|171/1773|57/590||,A|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript||n.-1C>A|||||2674|,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000495121|processed_transcript||n.*361C>A|||||60| 22 24561463 . T A . . ANN=A|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript||n.-1T>A|||||1728|,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000495121|processed_transcript||n.*361T>A|||||1006|,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|30/36|c.4911-35T>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|29/35|c.4674-35T>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|30/36|c.4911-35T>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|2/7|c.186-35T>A|||||| 22 24561480 . AC A . . ANN=|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript||n.-1delC|||||1710|,|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000495121|processed_transcript||n.*361delC|||||1024|,|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|30/36|c.4911-14delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|29/35|c.4674-14delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|30/36|c.4911-14delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|2/7|c.186-14delC||||||INFO_REALIGN_3_PRIME 22 24561534 . G A . . ANN=A|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|31/37|c.4947G>A|p.Ala1649Ala|5074/7222|4947/6663|1649/2220||,A|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|30/36|c.4710G>A|p.Ala1570Ala|4804/6952|4710/6426|1570/2141||,A|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|31/37|c.4947G>A|p.Ala1649Ala|5332/7480|4947/6663|1649/2220||,A|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|3/8|c.222G>A|p.Ala74Ala|440/2422|222/1773|74/590||,A|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript||n.-1G>A|||||1657|,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000495121|processed_transcript||n.*361G>A|||||1077| 22 24561582 . C T . . ANN=T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|31/37|c.4995C>T|p.Ser1665Ser|5122/7222|4995/6663|1665/2220||,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|30/36|c.4758C>T|p.Ser1586Ser|4852/6952|4758/6426|1586/2141||,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|31/37|c.4995C>T|p.Ser1665Ser|5380/7480|4995/6663|1665/2220||,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|3/8|c.270C>T|p.Ser90Ser|488/2422|270/1773|90/590||,T|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript||n.-1C>T|||||1609|,T|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000495121|processed_transcript||n.*361C>T|||||1125| 22 24561624 . C T . . ANN=T|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript||n.-1C>T|||||1567|,T|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000495121|processed_transcript||n.*361C>T|||||1167|,T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|31/36|c.5007+30C>T||||||,T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|30/35|c.4770+30C>T||||||,T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|31/36|c.5007+30C>T||||||,T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|3/7|c.282+30C>T|||||| 22 24562664 . G A . . ANN=A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|32/37|c.5065G>A|p.Asp1689Asn|5192/7222|5065/6663|1689/2220||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|31/36|c.4828G>A|p.Asp1610Asn|4922/6952|4828/6426|1610/2141||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|32/37|c.5065G>A|p.Asp1689Asn|5450/7480|5065/6663|1689/2220||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|4/8|c.340G>A|p.Asp114Asn|558/2422|340/1773|114/590||,A|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript||n.-1G>A|||||527|,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000495121|processed_transcript||n.*361G>A|||||2207| 22 24562844 . G A . . ANN=A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|32/37|c.5245G>A|p.Asp1749Asn|5372/7222|5245/6663|1749/2220||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|31/36|c.5008G>A|p.Asp1670Asn|5102/6952|5008/6426|1670/2141||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|32/37|c.5245G>A|p.Asp1749Asn|5630/7480|5245/6663|1749/2220||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|4/8|c.520G>A|p.Asp174Asn|738/2422|520/1773|174/590||,A|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript||n.-1G>A|||||347|,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000495121|processed_transcript||n.*361G>A|||||2387| 22 24562852 . G C . . ANN=C|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|32/37|c.5253G>C|p.Glu1751Asp|5380/7222|5253/6663|1751/2220||,C|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|31/36|c.5016G>C|p.Glu1672Asp|5110/6952|5016/6426|1672/2141||,C|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|32/37|c.5253G>C|p.Glu1751Asp|5638/7480|5253/6663|1751/2220||,C|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|4/8|c.528G>C|p.Glu176Asp|746/2422|528/1773|176/590||,C|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript||n.-1G>C|||||339|,C|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000495121|processed_transcript||n.*361G>C|||||2395| 22 24562940 . C T . . ANN=T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|32/37|c.5341C>T|p.Pro1781Ser|5468/7222|5341/6663|1781/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|31/36|c.5104C>T|p.Pro1702Ser|5198/6952|5104/6426|1702/2141||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|32/37|c.5341C>T|p.Pro1781Ser|5726/7480|5341/6663|1781/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|4/8|c.616C>T|p.Pro206Ser|834/2422|616/1773|206/590||,T|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript||n.-1C>T|||||251|,T|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000495121|processed_transcript||n.*361C>T|||||2483| 22 24562944 . G A . . ANN=A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|32/37|c.5345G>A|p.Gly1782Asp|5472/7222|5345/6663|1782/2220||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|31/36|c.5108G>A|p.Gly1703Asp|5202/6952|5108/6426|1703/2141||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|32/37|c.5345G>A|p.Gly1782Asp|5730/7480|5345/6663|1782/2220||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|4/8|c.620G>A|p.Gly207Asp|838/2422|620/1773|207/590||,A|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript||n.-1G>A|||||247|,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000495121|processed_transcript||n.*361G>A|||||2487| 22 24562970 . G A . . ANN=A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|32/37|c.5371G>A|p.Glu1791Lys|5498/7222|5371/6663|1791/2220||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|31/36|c.5134G>A|p.Glu1712Lys|5228/6952|5134/6426|1712/2141||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|32/37|c.5371G>A|p.Glu1791Lys|5756/7480|5371/6663|1791/2220||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|4/8|c.646G>A|p.Glu216Lys|864/2422|646/1773|216/590||,A|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript||n.-1G>A|||||221|,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000495121|processed_transcript||n.*361G>A|||||2513| 22 24562977 . G A . . ANN=A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|32/37|c.5378G>A|p.Arg1793Gln|5505/7222|5378/6663|1793/2220||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|31/36|c.5141G>A|p.Arg1714Gln|5235/6952|5141/6426|1714/2141||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|32/37|c.5378G>A|p.Arg1793Gln|5763/7480|5378/6663|1793/2220||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|4/8|c.653G>A|p.Arg218Gln|871/2422|653/1773|218/590||,A|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript||n.-1G>A|||||214|,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000495121|processed_transcript||n.*361G>A|||||2520| 22 24563038 . C A . . ANN=A|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|32/37|c.5439C>A|p.Leu1813Leu|5566/7222|5439/6663|1813/2220||,A|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|31/36|c.5202C>A|p.Leu1734Leu|5296/6952|5202/6426|1734/2141||,A|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|32/37|c.5439C>A|p.Leu1813Leu|5824/7480|5439/6663|1813/2220||,A|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|4/8|c.714C>A|p.Leu238Leu|932/2422|714/1773|238/590||,A|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript||n.-1C>A|||||153|,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000495121|processed_transcript||n.*361C>A|||||2581| 22 24563059 . C T . . ANN=T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|32/37|c.5460C>T|p.Pro1820Pro|5587/7222|5460/6663|1820/2220||,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|31/36|c.5223C>T|p.Pro1741Pro|5317/6952|5223/6426|1741/2141||,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|32/37|c.5460C>T|p.Pro1820Pro|5845/7480|5460/6663|1820/2220||,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|4/8|c.735C>T|p.Pro245Pro|953/2422|735/1773|245/590||,T|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript||n.-1C>T|||||132|,T|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000495121|processed_transcript||n.*361C>T|||||2602| 22 24563104 . C T . . ANN=T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|32/37|c.5505C>T|p.His1835His|5632/7222|5505/6663|1835/2220||,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|31/36|c.5268C>T|p.His1756His|5362/6952|5268/6426|1756/2141||,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|32/37|c.5505C>T|p.His1835His|5890/7480|5505/6663|1835/2220||,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|4/8|c.780C>T|p.His260His|998/2422|780/1773|260/590||,T|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript||n.-1C>T|||||87|,T|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000495121|processed_transcript||n.*361C>T|||||2647| 22 24563226 . A G . . ANN=G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|32/37|c.5627A>G|p.Tyr1876Cys|5754/7222|5627/6663|1876/2220||,G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|31/36|c.5390A>G|p.Tyr1797Cys|5484/6952|5390/6426|1797/2141||,G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|32/37|c.5627A>G|p.Tyr1876Cys|6012/7480|5627/6663|1876/2220||,G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|4/8|c.902A>G|p.Tyr301Cys|1120/2422|902/1773|301/590||,G|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000495121|processed_transcript||n.*361A>G|||||2769|,G|non_coding_exon_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript|1/4|n.36A>G|||||| 22 24563309 . A G . . ANN=G|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000495121|processed_transcript||n.*361A>G|||||2852|,G|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|32/36|c.5682+28A>G||||||,G|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|31/35|c.5445+28A>G||||||,G|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|32/36|c.5682+28A>G||||||,G|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|4/7|c.957+28A>G||||||,G|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript|1/3|n.91+28A>G|||||| 22 24564371 . C A . . ANN=A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000495121|processed_transcript||n.*361C>A|||||3914|,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|32/36|c.5683-44C>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|31/35|c.5446-44C>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|32/36|c.5683-44C>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|4/7|c.958-44C>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript|1/3|n.92-44C>A|||||| 22 24564384 . G A . . ANN=A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000495121|processed_transcript||n.*361G>A|||||3927|,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|32/36|c.5683-31G>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|31/35|c.5446-31G>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|32/36|c.5683-31G>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|4/7|c.958-31G>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript|1/3|n.92-31G>A|||||| 22 24564391 . G A . . ANN=A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000495121|processed_transcript||n.*361G>A|||||3934|,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|32/36|c.5683-24G>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|31/35|c.5446-24G>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|32/36|c.5683-24G>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|4/7|c.958-24G>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript|1/3|n.92-24G>A|||||| 22 24564477 . C T . . ANN=T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|33/37|c.5745C>T|p.Ala1915Ala|5872/7222|5745/6663|1915/2220||,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|32/36|c.5508C>T|p.Ala1836Ala|5602/6952|5508/6426|1836/2141||,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|33/37|c.5745C>T|p.Ala1915Ala|6130/7480|5745/6663|1915/2220||,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|5/8|c.1020C>T|p.Ala340Ala|1238/2422|1020/1773|340/590||,T|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000495121|processed_transcript||n.*361C>T|||||4020|,T|non_coding_exon_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript|2/4|n.154C>T|||||| 22 24564516 . C G . . ANN=G|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000495121|processed_transcript||n.*361C>G|||||4059|,G|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|33/36|c.5757+27C>G||||||,G|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|32/35|c.5520+27C>G||||||,G|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|33/36|c.5757+27C>G||||||,G|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|5/7|c.1032+27C>G||||||,G|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript|2/3|n.166+27C>G|||||| 22 24567673 . C G . . ANN=G|splice_region_variant&intron_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|33/36|c.5758-8C>G||||||,G|splice_region_variant&intron_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|32/35|c.5521-8C>G||||||,G|splice_region_variant&intron_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|33/36|c.5758-8C>G||||||,G|splice_region_variant&intron_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|5/7|c.1033-8C>G||||||,G|splice_region_variant&intron_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript|2/3|n.167-8C>G||||||,G|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000459824|retained_intron||n.-1C>G|||||4074| 22 24567744 . G C . . ANN=C|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|34/37|c.5821G>C|p.Val1941Leu|5948/7222|5821/6663|1941/2220||,C|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|33/36|c.5584G>C|p.Val1862Leu|5678/6952|5584/6426|1862/2141||,C|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|34/37|c.5821G>C|p.Val1941Leu|6206/7480|5821/6663|1941/2220||,C|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|6/8|c.1096G>C|p.Val366Leu|1314/2422|1096/1773|366/590||,C|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000459824|retained_intron||n.-1G>C|||||4003|,C|non_coding_exon_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript|3/4|n.230G>C|||||| 22 24567795 . C T . . ANN=T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|34/37|c.5872C>T|p.Arg1958Trp|5999/7222|5872/6663|1958/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|33/36|c.5635C>T|p.Arg1879Trp|5729/6952|5635/6426|1879/2141||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|34/37|c.5872C>T|p.Arg1958Trp|6257/7480|5872/6663|1958/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|6/8|c.1147C>T|p.Arg383Trp|1365/2422|1147/1773|383/590||,T|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000459824|retained_intron||n.-1C>T|||||3952|,T|non_coding_exon_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript|3/4|n.281C>T|||||| 22 24567805 . A C . . ANN=C|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|34/37|c.5882A>C|p.Asp1961Ala|6009/7222|5882/6663|1961/2220||,C|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|33/36|c.5645A>C|p.Asp1882Ala|5739/6952|5645/6426|1882/2141||,C|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|34/37|c.5882A>C|p.Asp1961Ala|6267/7480|5882/6663|1961/2220||,C|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|6/8|c.1157A>C|p.Asp386Ala|1375/2422|1157/1773|386/590||,C|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000459824|retained_intron||n.-1A>C|||||3942|,C|non_coding_exon_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript|3/4|n.291A>C|||||| 22 24567823 . G T . . ANN=T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|34/37|c.5900G>T|p.Arg1967Leu|6027/7222|5900/6663|1967/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|33/36|c.5663G>T|p.Arg1888Leu|5757/6952|5663/6426|1888/2141||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|34/37|c.5900G>T|p.Arg1967Leu|6285/7480|5900/6663|1967/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|6/8|c.1175G>T|p.Arg392Leu|1393/2422|1175/1773|392/590||,T|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000459824|retained_intron||n.-1G>T|||||3924|,T|non_coding_exon_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript|3/4|n.309G>T|||||| 22 24567865 . C T . . ANN=T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|34/37|c.5942C>T|p.Pro1981Leu|6069/7222|5942/6663|1981/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|33/36|c.5705C>T|p.Pro1902Leu|5799/6952|5705/6426|1902/2141||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|34/37|c.5942C>T|p.Pro1981Leu|6327/7480|5942/6663|1981/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|6/8|c.1217C>T|p.Pro406Leu|1435/2422|1217/1773|406/590||,T|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000459824|retained_intron||n.-1C>T|||||3882|,T|non_coding_exon_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript|3/4|n.351C>T|||||| 22 24567891 . C G . . ANN=G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|34/37|c.5968C>G|p.Gln1990Glu|6095/7222|5968/6663|1990/2220||,G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|33/36|c.5731C>G|p.Gln1911Glu|5825/6952|5731/6426|1911/2141||,G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|34/37|c.5968C>G|p.Gln1990Glu|6353/7480|5968/6663|1990/2220||,G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|6/8|c.1243C>G|p.Gln415Glu|1461/2422|1243/1773|415/590||,G|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000459824|retained_intron||n.-1C>G|||||3856|,G|non_coding_exon_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript|3/4|n.377C>G|||||| 22 24567897 . A G . . ANN=G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|34/37|c.5974A>G|p.Lys1992Glu|6101/7222|5974/6663|1992/2220||,G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|33/36|c.5737A>G|p.Lys1913Glu|5831/6952|5737/6426|1913/2141||,G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|34/37|c.5974A>G|p.Lys1992Glu|6359/7480|5974/6663|1992/2220||,G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|6/8|c.1249A>G|p.Lys417Glu|1467/2422|1249/1773|417/590||,G|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000459824|retained_intron||n.-1A>G|||||3850|,G|non_coding_exon_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript|3/4|n.383A>G|||||| 22 24567910 . C T . . ANN=T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|34/37|c.5987C>T|p.Pro1996Leu|6114/7222|5987/6663|1996/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|33/36|c.5750C>T|p.Pro1917Leu|5844/6952|5750/6426|1917/2141||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|34/37|c.5987C>T|p.Pro1996Leu|6372/7480|5987/6663|1996/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|6/8|c.1262C>T|p.Pro421Leu|1480/2422|1262/1773|421/590||,T|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000459824|retained_intron||n.-1C>T|||||3837|,T|non_coding_exon_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript|3/4|n.396C>T|||||| 22 24567940 . C T . . ANN=T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|34/37|c.6017C>T|p.Pro2006Leu|6144/7222|6017/6663|2006/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|33/36|c.5780C>T|p.Pro1927Leu|5874/6952|5780/6426|1927/2141||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|34/37|c.6017C>T|p.Pro2006Leu|6402/7480|6017/6663|2006/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|6/8|c.1292C>T|p.Pro431Leu|1510/2422|1292/1773|431/590||,T|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000459824|retained_intron||n.-1C>T|||||3807|,T|non_coding_exon_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript|3/4|n.426C>T|||||| 22 24568003 . G A . . ANN=A|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000459824|retained_intron||n.-1G>A|||||3744|,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|34/36|c.6040+40G>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|33/35|c.5803+40G>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|34/36|c.6040+40G>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|6/7|c.1315+40G>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript|3/3|n.449+40G>A|||||| 22 24568009 . A C,G,T . . ANN=C|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000459824|retained_intron||n.-1A>C|||||3738|,G|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000459824|retained_intron||n.-1A>G|||||3738|,T|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000459824|retained_intron||n.-1A>T|||||3738|,C|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|34/36|c.6040+46A>C||||||,G|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|34/36|c.6040+46A>G||||||,T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|34/36|c.6040+46A>T||||||,C|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|33/35|c.5803+46A>C||||||,G|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|33/35|c.5803+46A>G||||||,T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|33/35|c.5803+46A>T||||||,C|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|34/36|c.6040+46A>C||||||,G|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|34/36|c.6040+46A>G||||||,T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|34/36|c.6040+46A>T||||||,C|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|6/7|c.1315+46A>C||||||,G|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|6/7|c.1315+46A>G||||||,T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|6/7|c.1315+46A>T||||||,C|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript|3/3|n.449+46A>C||||||,G|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript|3/3|n.449+46A>G||||||,T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript|3/3|n.449+46A>T|||||| 22 24572034 . G A . . ANN=A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript||n.*771G>A|||||2668|,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|34/36|c.6041-45G>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|33/35|c.5804-45G>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|34/36|c.6041-45G>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|6/7|c.1316-1438G>A||||||,A|non_coding_exon_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000459824|retained_intron|1/2|n.288G>A|||||| 22 24572197 . G A . . ANN=A|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|35/37|c.6159G>A|p.Pro2053Pro|6286/7222|6159/6663|2053/2220||,A|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|34/36|c.5922G>A|p.Pro1974Pro|6016/6952|5922/6426|1974/2141||,A|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|35/37|c.6159G>A|p.Pro2053Pro|6544/7480|6159/6663|2053/2220||,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript||n.*771G>A|||||2831|,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|6/7|c.1316-1275G>A||||||,A|non_coding_exon_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000459824|retained_intron|1/2|n.451G>A|||||| 22 24573434 . G A . . ANN=A|upstream_gene_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding||c.-262G>A|||||3793|,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript||n.*771G>A|||||4068|,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|35/36|c.6206-38G>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|34/35|c.5969-38G>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|35/36|c.6206-38G>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|6/7|c.1316-38G>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000459824|retained_intron|1/1|n.498-38G>A|||||| 22 24573435 . G A . . ANN=A|upstream_gene_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding||c.-262G>A|||||3792|,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript||n.*771G>A|||||4069|,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|35/36|c.6206-37G>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|34/35|c.5969-37G>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|35/36|c.6206-37G>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|6/7|c.1316-37G>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000459824|retained_intron|1/1|n.498-37G>A|||||| 22 24573537 . C T . . ANN=T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|36/37|c.6271C>T|p.Pro2091Ser|6398/7222|6271/6663|2091/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|35/36|c.6034C>T|p.Pro2012Ser|6128/6952|6034/6426|2012/2141||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|36/37|c.6271C>T|p.Pro2091Ser|6656/7480|6271/6663|2091/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|7/8|c.1381C>T|p.Pro461Ser|1599/2422|1381/1773|461/590||,T|upstream_gene_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding||c.-262C>T|||||3690|,T|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript||n.*771C>T|||||4171|,T|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000459824|retained_intron||n.*532C>T|||||31| 22 24573593 . C T . . ANN=T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|36/37|c.6327C>T|p.Ala2109Ala|6454/7222|6327/6663|2109/2220||,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|35/36|c.6090C>T|p.Ala2030Ala|6184/6952|6090/6426|2030/2141||,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|36/37|c.6327C>T|p.Ala2109Ala|6712/7480|6327/6663|2109/2220||,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|7/8|c.1437C>T|p.Ala479Ala|1655/2422|1437/1773|479/590||,T|upstream_gene_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding||c.-262C>T|||||3634|,T|upstream_gene_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron||n.-1C>T|||||4952|,T|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript||n.*771C>T|||||4227|,T|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000459824|retained_intron||n.*532C>T|||||87| 22 24573761 . G A . . ANN=A|sequence_feature|MODERATE|CABIN1|ENSG00000099991|amino_acid_modification:Phosphoserine|ENST00000263119|protein_coding|36/37|c.6495G>A||||||,A|sequence_feature|MODERATE|CABIN1|ENSG00000099991|amino_acid_modification:Phosphoserine|ENST00000405822|protein_coding|35/36|c.6258G>A||||||,A|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|36/37|c.6495G>A|p.Ser2165Ser|6622/7222|6495/6663|2165/2220||,A|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|35/36|c.6258G>A|p.Ser2086Ser|6352/6952|6258/6426|2086/2141||,A|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|36/37|c.6495G>A|p.Ser2165Ser|6880/7480|6495/6663|2165/2220||,A|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|7/8|c.1605G>A|p.Ser535Ser|1823/2422|1605/1773|535/590||,A|upstream_gene_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding||c.-262G>A|||||3466|,A|upstream_gene_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron||n.-1G>A|||||4784|,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript||n.*771G>A|||||4395|,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000459824|retained_intron||n.*532G>A|||||255| 22 24573793 . CAG C . . ANN=|sequence_feature|LOW|CABIN1|ENSG00000099991|helix|ENST00000263119|protein_coding|36/37|c.6519+9_6519+10delAG||||||,|sequence_feature|LOW|CABIN1|ENSG00000099991|helix|ENST00000263119|protein_coding|37/37|c.6519+9_6519+10delAG||||||,|sequence_feature|LOW|CABIN1|ENSG00000099991|helix|ENST00000405822|protein_coding|35/36|c.6282+9_6282+10delAG||||||,|sequence_feature|LOW|CABIN1|ENSG00000099991|helix|ENST00000405822|protein_coding|36/36|c.6282+9_6282+10delAG||||||,|upstream_gene_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding||c.-262_-262delAG|||||3433|,|upstream_gene_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron||n.-1_-1delAG|||||4751|,|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript||n.*771_*771delAG|||||4428|,|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000459824|retained_intron||n.*532_*532delAG|||||288|,|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|36/36|c.6519+9_6519+10delAG||||||,|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|35/35|c.6282+9_6282+10delAG||||||,|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|36/36|c.6519+9_6519+10delAG||||||,|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|7/7|c.1629+9_1629+10delAG|||||| 22 24573826 . G A . . ANN=A|sequence_feature|LOW|CABIN1|ENSG00000099991|helix|ENST00000263119|protein_coding|36/37|c.6519+41G>A||||||,A|sequence_feature|LOW|CABIN1|ENSG00000099991|helix|ENST00000263119|protein_coding|37/37|c.6519+41G>A||||||,A|sequence_feature|LOW|CABIN1|ENSG00000099991|helix|ENST00000405822|protein_coding|35/36|c.6282+41G>A||||||,A|sequence_feature|LOW|CABIN1|ENSG00000099991|helix|ENST00000405822|protein_coding|36/36|c.6282+41G>A||||||,A|upstream_gene_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding||c.-262G>A|||||3401|,A|upstream_gene_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron||n.-1G>A|||||4719|,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript||n.*771G>A|||||4460|,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000459824|retained_intron||n.*532G>A|||||320|,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|36/36|c.6519+41G>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|35/35|c.6282+41G>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|36/36|c.6519+41G>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|7/7|c.1629+41G>A|||||| 22 24573975 . G A . . ANN=A|sequence_feature|LOW|CABIN1|ENSG00000099991|helix|ENST00000263119|protein_coding|36/37|c.6520-46G>A||||||,A|sequence_feature|LOW|CABIN1|ENSG00000099991|helix|ENST00000263119|protein_coding|37/37|c.6520-46G>A||||||,A|sequence_feature|LOW|CABIN1|ENSG00000099991|helix|ENST00000405822|protein_coding|35/36|c.6283-46G>A||||||,A|sequence_feature|LOW|CABIN1|ENSG00000099991|helix|ENST00000405822|protein_coding|36/36|c.6283-46G>A||||||,A|upstream_gene_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding||c.-262G>A|||||3252|,A|upstream_gene_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron||n.-1G>A|||||4570|,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript||n.*771G>A|||||4609|,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000459824|retained_intron||n.*532G>A|||||469|,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|36/36|c.6520-46G>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|35/35|c.6283-46G>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|36/36|c.6520-46G>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|7/7|c.1630-46G>A|||||| 22 24574003 . G A . . ANN=A|sequence_feature|LOW|CABIN1|ENSG00000099991|helix|ENST00000263119|protein_coding|36/37|c.6520-18G>A||||||,A|sequence_feature|LOW|CABIN1|ENSG00000099991|helix|ENST00000263119|protein_coding|37/37|c.6520-18G>A||||||,A|sequence_feature|LOW|CABIN1|ENSG00000099991|helix|ENST00000405822|protein_coding|35/36|c.6283-18G>A||||||,A|sequence_feature|LOW|CABIN1|ENSG00000099991|helix|ENST00000405822|protein_coding|36/36|c.6283-18G>A||||||,A|upstream_gene_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding||c.-262G>A|||||3224|,A|upstream_gene_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron||n.-1G>A|||||4542|,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript||n.*771G>A|||||4637|,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000459824|retained_intron||n.*532G>A|||||497|,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|36/36|c.6520-18G>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|35/35|c.6283-18G>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|36/36|c.6520-18G>A||||||,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|7/7|c.1630-18G>A|||||| 22 24574017 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|36/36|c.6520-4G>A||||||,A|splice_region_variant&intron_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|35/35|c.6283-4G>A||||||,A|splice_region_variant&intron_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|36/36|c.6520-4G>A||||||,A|splice_region_variant&intron_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|7/7|c.1630-4G>A||||||,A|sequence_feature|LOW|CABIN1|ENSG00000099991|helix|ENST00000263119|protein_coding|36/37|c.6520-4G>A||||||,A|sequence_feature|LOW|CABIN1|ENSG00000099991|helix|ENST00000263119|protein_coding|37/37|c.6520-4G>A||||||,A|sequence_feature|LOW|CABIN1|ENSG00000099991|helix|ENST00000405822|protein_coding|35/36|c.6283-4G>A||||||,A|sequence_feature|LOW|CABIN1|ENSG00000099991|helix|ENST00000405822|protein_coding|36/36|c.6283-4G>A||||||,A|upstream_gene_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding||c.-262G>A|||||3210|,A|upstream_gene_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron||n.-1G>A|||||4528|,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript||n.*771G>A|||||4651|,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000459824|retained_intron||n.*532G>A|||||511| 22 24574054 . G A . . ANN=A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|37/37|c.6553G>A|p.Val2185Met|6680/7222|6553/6663|2185/2220||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|36/36|c.6316G>A|p.Val2106Met|6410/6952|6316/6426|2106/2141||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|37/37|c.6553G>A|p.Val2185Met|6938/7480|6553/6663|2185/2220||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|8/8|c.1663G>A|p.Val555Met|1881/2422|1663/1773|555/590||,A|upstream_gene_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding||c.-262G>A|||||3173|,A|upstream_gene_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron||n.-1G>A|||||4491|,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript||n.*771G>A|||||4688|,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000459824|retained_intron||n.*532G>A|||||548| 22 24574128 . C T . . ANN=T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|37/37|c.6627C>T|p.Ser2209Ser|6754/7222|6627/6663|2209/2220||,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|36/36|c.6390C>T|p.Ser2130Ser|6484/6952|6390/6426|2130/2141||,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|37/37|c.6627C>T|p.Ser2209Ser|7012/7480|6627/6663|2209/2220||,T|synonymous_variant|LOW|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|8/8|c.1737C>T|p.Ser579Ser|1955/2422|1737/1773|579/590||,T|upstream_gene_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding||c.-262C>T|||||3099|,T|upstream_gene_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron||n.-1C>T|||||4417|,T|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript||n.*771C>T|||||4762|,T|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000459824|retained_intron||n.*532C>T|||||622| 22 24574137 . C G . . ANN=G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|37/37|c.6636C>G|p.Asp2212Glu|6763/7222|6636/6663|2212/2220||,G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|36/36|c.6399C>G|p.Asp2133Glu|6493/6952|6399/6426|2133/2141||,G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|37/37|c.6636C>G|p.Asp2212Glu|7021/7480|6636/6663|2212/2220||,G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|8/8|c.1746C>G|p.Asp582Glu|1964/2422|1746/1773|582/590||,G|upstream_gene_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding||c.-262C>G|||||3090|,G|upstream_gene_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron||n.-1C>G|||||4408|,G|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript||n.*771C>G|||||4771|,G|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000459824|retained_intron||n.*532C>G|||||631| 22 24574185 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|37/37|c.*21G>A|||||21|,A|3_prime_UTR_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|36/36|c.*21G>A|||||21|,A|3_prime_UTR_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|37/37|c.*21G>A|||||21|,A|3_prime_UTR_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|8/8|c.*21G>A|||||21|,A|upstream_gene_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding||c.-262G>A|||||3042|,A|upstream_gene_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron||n.-1G>A|||||4360|,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript||n.*771G>A|||||4819|,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000459824|retained_intron||n.*532G>A|||||679| 22 24574189 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|37/37|c.*25C>T|||||25|,T|3_prime_UTR_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|36/36|c.*25C>T|||||25|,T|3_prime_UTR_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|37/37|c.*25C>T|||||25|,T|3_prime_UTR_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|8/8|c.*25C>T|||||25|,T|upstream_gene_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding||c.-262C>T|||||3038|,T|upstream_gene_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron||n.-1C>T|||||4356|,T|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript||n.*771C>T|||||4823|,T|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000459824|retained_intron||n.*532C>T|||||683| 22 24577531 . C T . . ANN=T|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|1/15|c.44C>T|p.Thr15Ile|305/3404|44/2469|15/822||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|signal_peptide|ENST00000358321|protein_coding|1/15|c.44C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|signal_peptide|ENST00000358321|protein_coding|2/15|c.44C>T||||||,T|upstream_gene_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron||n.-1C>T|||||1014|,T|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding||c.*6790C>T|||||2935|,T|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding||c.*6520C>T|||||2935|,T|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding||c.*7048C>T|||||2935|,T|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding||c.*1991C>T|||||2936|,T|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000459824|retained_intron||n.*532C>T|||||4025| 22 24577538 . C T . . ANN=T|synonymous_variant|LOW|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|1/15|c.51C>T|p.Leu17Leu|312/3404|51/2469|17/822||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|signal_peptide|ENST00000358321|protein_coding|1/15|c.51C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|signal_peptide|ENST00000358321|protein_coding|2/15|c.51C>T||||||,T|upstream_gene_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron||n.-1C>T|||||1007|,T|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding||c.*6790C>T|||||2942|,T|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding||c.*6520C>T|||||2942|,T|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding||c.*7048C>T|||||2942|,T|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding||c.*1991C>T|||||2943|,T|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000459824|retained_intron||n.*532C>T|||||4032| 22 24579503 . T A . . ANN=A|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|3/15|c.328T>A|p.Ser110Thr|589/3404|328/2469|110/822||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.328T>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.328T>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.328T>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.328T>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.328T>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.328T>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.328T>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.328T>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.328T>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.328T>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.328T>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.328T>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.328T>A||||||,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding||c.*6790T>A|||||4907|,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding||c.*6520T>A|||||4907|,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding||c.*7048T>A|||||4907|,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding||c.*1991T>A|||||4908|,A|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|2/11|n.732T>A|||||| 22 24579530 . C T . . ANN=T|synonymous_variant|LOW|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|3/15|c.355C>T|p.Leu119Leu|616/3404|355/2469|119/822||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.355C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.355C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.355C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.355C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.355C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.355C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.355C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.355C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.355C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.355C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.355C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.355C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.355C>T||||||,T|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding||c.*6790C>T|||||4934|,T|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding||c.*6520C>T|||||4934|,T|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding||c.*7048C>T|||||4934|,T|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding||c.*1991C>T|||||4935|,T|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|2/11|n.759C>T|||||| 22 24579597 . C T . . ANN=T|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|3/15|c.422C>T|p.Ala141Val|683/3404|422/2469|141/822||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.422C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.422C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.422C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.422C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.422C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.422C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.422C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.422C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.422C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.422C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.422C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.422C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.422C>T||||||,T|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|2/11|n.826C>T|||||| 22 24580150 . C T . . ANN=T|sequence_feature|MODERATE|SUSD2|ENSG00000099994|glycosylation_site:N-linked__GlcNAc..._|ENST00000358321|protein_coding|4/15|c.486C>T||||||,T|synonymous_variant|LOW|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|4/15|c.486C>T|p.Asn162Asn|747/3404|486/2469|162/822||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.486C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.486C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.486C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.486C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.486C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.486C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.486C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.486C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.486C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.486C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.486C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.486C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.486C>T||||||,T|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|2/11|n.1379C>T|||||| 22 24580156 . G A . . ANN=A|synonymous_variant|LOW|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|4/15|c.492G>A|p.Thr164Thr|753/3404|492/2469|164/822||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.492G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.492G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.492G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.492G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.492G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.492G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.492G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.492G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.492G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.492G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.492G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.492G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.492G>A||||||,A|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|2/11|n.1385G>A|||||| 22 24580157 . C G . . ANN=G|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|4/15|c.493C>G|p.Arg165Gly|754/3404|493/2469|165/822||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.493C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.493C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.493C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.493C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.493C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.493C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.493C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.493C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.493C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.493C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.493C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.493C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.493C>G||||||,G|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|2/11|n.1386C>G|||||| 22 24580158 . G A . . ANN=A|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|4/15|c.494G>A|p.Arg165His|755/3404|494/2469|165/822||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.494G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.494G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.494G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.494G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.494G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.494G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.494G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.494G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.494G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.494G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.494G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.494G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.494G>A||||||,A|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|2/11|n.1387G>A|||||| 22 24580172 . G A . . ANN=A|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|4/15|c.508G>A|p.Gly170Ser|769/3404|508/2469|170/822||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.508G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.508G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.508G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.508G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.508G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.508G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.508G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.508G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.508G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.508G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.508G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.508G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.508G>A||||||,A|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|2/11|n.1401G>A|||||| 22 24580210 . G A . . ANN=A|stop_gained|HIGH|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|4/15|c.546G>A|p.Trp182*|807/3404|546/2469|182/822||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.546G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.546G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.546G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.546G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.546G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.546G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.546G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.546G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.546G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.546G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.546G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.546G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.546G>A||||||,A|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|2/11|n.1439G>A||||||;LOF=(SUSD2|ENSG00000099994|2|0.50);NMD=(SUSD2|ENSG00000099994|2|0.50) 22 24580261 . C T . . ANN=T|synonymous_variant|LOW|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|4/15|c.597C>T|p.Tyr199Tyr|858/3404|597/2469|199/822||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.597C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.597C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.597C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.597C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.597C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.597C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.597C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.597C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.597C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.597C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.597C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.597C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.597C>T||||||,T|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|2/11|n.1490C>T|||||| 22 24580268 . A G . . ANN=G|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|4/15|c.604A>G|p.Thr202Ala|865/3404|604/2469|202/822||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.604A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.604A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.604A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.604A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.604A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.604A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.604A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.604A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.604A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.604A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.604A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.604A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.604A>G||||||,G|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|2/11|n.1497A>G|||||| 22 24580694 . C T . . ANN=T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.608-40C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.608-40C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.608-40C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.608-40C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.608-40C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.608-40C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.608-40C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.608-40C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.608-40C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.608-40C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.608-40C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.608-40C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.608-40C>T||||||,T|intron_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|4/14|c.608-40C>T||||||,T|intron_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|2/10|n.1501-40C>T|||||| 22 24580784 . CT C . . ANN=|frameshift_variant|HIGH|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|5/15|c.659delT|p.Leu220fs|920/3404|659/2469|220/822||,|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.659delT||||||,|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.659delT||||||,|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.659delT||||||,|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.659delT||||||,|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.659delT||||||,|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.659delT||||||,|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.659delT||||||,|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.659delT||||||,|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.659delT||||||,|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.659delT||||||,|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.659delT||||||,|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.659delT||||||,|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.659delT||||||,|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|3/11|n.1552delT||||||;LOF=(SUSD2|ENSG00000099994|2|0.50) 22 24580807 . C T . . ANN=T|synonymous_variant|LOW|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|5/15|c.681C>T|p.Ser227Ser|942/3404|681/2469|227/822||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.681C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.681C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.681C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.681C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.681C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.681C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.681C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.681C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.681C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.681C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.681C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.681C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.681C>T||||||,T|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|3/11|n.1574C>T|||||| 22 24580857 . G C . . ANN=C|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|5/15|c.731G>C|p.Trp244Ser|992/3404|731/2469|244/822||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.731G>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.731G>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.731G>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.731G>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.731G>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.731G>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.731G>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.731G>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.731G>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.731G>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.731G>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.731G>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.731G>C||||||,C|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|3/11|n.1624G>C|||||| 22 24580882 . C T . . ANN=T|synonymous_variant|LOW|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|5/15|c.756C>T|p.Ile252Ile|1017/3404|756/2469|252/822||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.756C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.756C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.756C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.756C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.756C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.756C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.756C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.756C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.756C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.756C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.756C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.756C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.756C>T||||||,T|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|3/11|n.1649C>T|||||| 22 24580897 . C T . . ANN=T|synonymous_variant|LOW|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|5/15|c.771C>T|p.Tyr257Tyr|1032/3404|771/2469|257/822||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.771C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.771C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.771C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.771C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.771C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.771C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.771C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.771C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.771C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.771C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.771C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.771C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.771C>T||||||,T|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|3/11|n.1664C>T|||||| 22 24580924 . T G . . ANN=G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.782+16T>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.782+16T>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.782+16T>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.782+16T>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.782+16T>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.782+16T>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.782+16T>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.782+16T>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.782+16T>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.782+16T>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.782+16T>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.782+16T>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.782+16T>G||||||,G|intron_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|5/14|c.782+16T>G||||||,G|intron_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|3/10|n.1675+16T>G|||||| 22 24581018 . G A . . ANN=A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.783-44G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.783-44G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.783-44G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.783-44G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.783-44G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.783-44G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.783-44G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.783-44G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.783-44G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.783-44G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.783-44G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.783-44G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.783-44G>A||||||,A|intron_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|5/14|c.783-44G>A||||||,A|intron_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|3/10|n.1676-44G>A|||||| 22 24581043 . A G . . ANN=G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.783-19A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.783-19A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.783-19A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.783-19A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.783-19A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.783-19A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.783-19A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.783-19A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.783-19A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.783-19A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.783-19A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.783-19A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.783-19A>G||||||,G|intron_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|5/14|c.783-19A>G||||||,G|intron_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|3/10|n.1676-19A>G|||||| 22 24581123 . C T . . ANN=T|stop_gained|HIGH|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|6/15|c.844C>T|p.Arg282*|1105/3404|844/2469|282/822||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.844C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.844C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.844C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.844C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.844C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.844C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.844C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.844C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.844C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.844C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.844C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.844C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.844C>T||||||,T|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|4/11|n.1737C>T||||||;LOF=(SUSD2|ENSG00000099994|2|0.50);NMD=(SUSD2|ENSG00000099994|2|0.50) 22 24581124 . G A . . ANN=A|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|6/15|c.845G>A|p.Arg282Gln|1106/3404|845/2469|282/822||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.845G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.845G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.845G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.845G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.845G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.845G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.845G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.845G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.845G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.845G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.845G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.845G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.845G>A||||||,A|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|4/11|n.1738G>A|||||| 22 24581182 . T C . . ANN=C|synonymous_variant|LOW|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|6/15|c.903T>C|p.Asp301Asp|1164/3404|903/2469|301/822||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.903T>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.903T>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.903T>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.903T>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.903T>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.903T>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.903T>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.903T>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.903T>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.903T>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.903T>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.903T>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.903T>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|7/15|c.903T>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|6/15|c.903T>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|8/15|c.903T>C||||||,C|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|4/11|n.1796T>C|||||| 22 24581193 . A G . . ANN=G|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|6/15|c.914A>G|p.Asn305Ser|1175/3404|914/2469|305/822||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.914A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.914A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.914A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.914A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.914A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.914A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.914A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.914A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.914A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.914A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.914A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.914A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.914A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|7/15|c.914A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|6/15|c.914A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|8/15|c.914A>G||||||,G|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|4/11|n.1807A>G|||||| 22 24581207 . C T . . ANN=T|synonymous_variant|LOW|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|6/15|c.928C>T|p.Leu310Leu|1189/3404|928/2469|310/822||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.928C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.928C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.928C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.928C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.928C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.928C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.928C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.928C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.928C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.928C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.928C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.928C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.928C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|7/15|c.928C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|6/15|c.928C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|8/15|c.928C>T||||||,T|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|4/11|n.1821C>T|||||| 22 24581477 . G T . . ANN=T|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|7/15|c.1008G>T|p.Glu336Asp|1269/3404|1008/2469|336/822||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.1008G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.1008G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.1008G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.1008G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.1008G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.1008G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.1008G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.1008G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.1008G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.1008G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.1008G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.1008G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.1008G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|7/15|c.1008G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|6/15|c.1008G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|8/15|c.1008G>T||||||,T|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|5/11|n.1901G>T|||||| 22 24581498 . C T . . ANN=T|synonymous_variant|LOW|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|7/15|c.1029C>T|p.Tyr343Tyr|1290/3404|1029/2469|343/822||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.1029C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.1029C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.1029C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.1029C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.1029C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.1029C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.1029C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.1029C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.1029C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.1029C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.1029C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.1029C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.1029C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|7/15|c.1029C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|6/15|c.1029C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|8/15|c.1029C>T||||||,T|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|5/11|n.1922C>T|||||| 22 24581617 . T G . . ANN=G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.1071-12T>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.1071-12T>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.1071-12T>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.1071-12T>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.1071-12T>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.1071-12T>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.1071-12T>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.1071-12T>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.1071-12T>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.1071-12T>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.1071-12T>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.1071-12T>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.1071-12T>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|7/15|c.1071-12T>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|6/15|c.1071-12T>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|8/15|c.1071-12T>G||||||,G|intron_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|7/14|c.1071-12T>G||||||,G|intron_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|5/10|n.1964-12T>G|||||| 22 24581634 . G A . . ANN=A|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|8/15|c.1076G>A|p.Arg359Gln|1337/3404|1076/2469|359/822||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.1076G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.1076G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.1076G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.1076G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.1076G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.1076G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.1076G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.1076G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.1076G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.1076G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.1076G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.1076G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.1076G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|7/15|c.1076G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|6/15|c.1076G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|8/15|c.1076G>A||||||,A|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|6/11|n.1969G>A|||||| 22 24581638 . C T . . ANN=T|synonymous_variant|LOW|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|8/15|c.1080C>T|p.Tyr360Tyr|1341/3404|1080/2469|360/822||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.1080C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.1080C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.1080C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.1080C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.1080C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.1080C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.1080C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.1080C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.1080C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.1080C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.1080C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.1080C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.1080C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|7/15|c.1080C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|6/15|c.1080C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|8/15|c.1080C>T||||||,T|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|6/11|n.1973C>T|||||| 22 24581671 . C T . . ANN=T|synonymous_variant|LOW|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|8/15|c.1113C>T|p.Asp371Asp|1374/3404|1113/2469|371/822||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.1113C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.1113C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.1113C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.1113C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.1113C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.1113C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.1113C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.1113C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.1113C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.1113C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.1113C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.1113C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.1113C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|7/15|c.1113C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|6/15|c.1113C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|8/15|c.1113C>T||||||,T|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|6/11|n.2006C>T|||||| 22 24581704 . C T . . ANN=T|synonymous_variant|LOW|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|8/15|c.1146C>T|p.Gly382Gly|1407/3404|1146/2469|382/822||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.1146C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.1146C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.1146C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.1146C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.1146C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.1146C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.1146C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.1146C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.1146C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.1146C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.1146C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.1146C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.1146C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|7/15|c.1146C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|6/15|c.1146C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|8/15|c.1146C>T||||||,T|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|6/11|n.2039C>T|||||| 22 24581769 . C G . . ANN=G|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|8/15|c.1211C>G|p.Pro404Arg|1472/3404|1211/2469|404/822||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.1211C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.1211C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.1211C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.1211C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.1211C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.1211C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.1211C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.1211C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.1211C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.1211C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.1211C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.1211C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.1211C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|7/15|c.1211C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|6/15|c.1211C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|8/15|c.1211C>G||||||,G|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|6/11|n.2104C>G|||||| 22 24581831 . G A . . ANN=A|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|8/15|c.1273G>A|p.Asp425Asn|1534/3404|1273/2469|425/822||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.1273G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.1273G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.1273G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.1273G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.1273G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.1273G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.1273G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.1273G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.1273G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.1273G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.1273G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.1273G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.1273G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|7/15|c.1273G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|6/15|c.1273G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|8/15|c.1273G>A||||||,A|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|6/11|n.2166G>A|||||| 22 24581839 . C G . . ANN=G|synonymous_variant|LOW|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|8/15|c.1281C>G|p.Pro427Pro|1542/3404|1281/2469|427/822||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.1281C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.1281C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.1281C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.1281C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.1281C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.1281C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.1281C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.1281C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.1281C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.1281C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.1281C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.1281C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.1281C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|7/15|c.1281C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|6/15|c.1281C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|8/15|c.1281C>G||||||,G|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|6/11|n.2174C>G|||||| 22 24581853 . G A . . ANN=A|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|8/15|c.1295G>A|p.Arg432Gln|1556/3404|1295/2469|432/822||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.1295G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.1295G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.1295G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.1295G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.1295G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.1295G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.1295G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.1295G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.1295G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.1295G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.1295G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.1295G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.1295G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|7/15|c.1295G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|6/15|c.1295G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|8/15|c.1295G>A||||||,A|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|6/11|n.2188G>A|||||| 22 24581865 . A G . . ANN=G|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|8/15|c.1307A>G|p.Asn436Ser|1568/3404|1307/2469|436/822||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.1307A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.1307A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.1307A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.1307A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.1307A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.1307A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.1307A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.1307A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.1307A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.1307A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.1307A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.1307A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.1307A>G||||||,G|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|6/11|n.2200A>G|||||| 22 24581912 . G A . . ANN=A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.1339+15G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.1339+15G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.1339+15G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.1339+15G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.1339+15G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.1339+15G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.1339+15G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.1339+15G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.1339+15G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.1339+15G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.1339+15G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.1339+15G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.1339+15G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|11/15|c.1339+15G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|9/15|c.1339+15G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|10/15|c.1339+15G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|8/15|c.1339+15G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|12/15|c.1339+15G>A||||||,A|intron_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|8/14|c.1339+15G>A||||||,A|intron_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|6/10|n.2232+15G>A|||||| 22 24581921 . A T . . ANN=T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.1339+24A>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.1339+24A>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.1339+24A>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.1339+24A>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.1339+24A>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.1339+24A>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.1339+24A>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.1339+24A>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.1339+24A>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.1339+24A>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.1339+24A>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.1339+24A>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.1339+24A>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|11/15|c.1339+24A>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|9/15|c.1339+24A>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|10/15|c.1339+24A>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|8/15|c.1339+24A>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|12/15|c.1339+24A>T||||||,T|intron_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|8/14|c.1339+24A>T||||||,T|intron_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|6/10|n.2232+24A>T|||||| 22 24582041 . A G . . ANN=G|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|9/15|c.1397A>G|p.Asn466Ser|1658/3404|1397/2469|466/822||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.1397A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.1397A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.1397A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.1397A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.1397A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.1397A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.1397A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.1397A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.1397A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.1397A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.1397A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.1397A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.1397A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|11/15|c.1397A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|9/15|c.1397A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|10/15|c.1397A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|8/15|c.1397A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|12/15|c.1397A>G||||||,G|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|7/11|n.2290A>G|||||| 22 24582080 . C T . . ANN=T|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|9/15|c.1436C>T|p.Thr479Ile|1697/3404|1436/2469|479/822||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.1436C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.1436C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.1436C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.1436C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.1436C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.1436C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.1436C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.1436C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.1436C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.1436C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.1436C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.1436C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.1436C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|11/15|c.1436C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|9/15|c.1436C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|10/15|c.1436C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|8/15|c.1436C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|12/15|c.1436C>T||||||,T|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|7/11|n.2329C>T|||||| 22 24582093 . G A . . ANN=A|synonymous_variant|LOW|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|9/15|c.1449G>A|p.Val483Val|1710/3404|1449/2469|483/822||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.1449G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.1449G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.1449G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.1449G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.1449G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.1449G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.1449G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.1449G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.1449G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.1449G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.1449G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.1449G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.1449G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|11/15|c.1449G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|9/15|c.1449G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|10/15|c.1449G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|8/15|c.1449G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|12/15|c.1449G>A||||||,A|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|7/11|n.2342G>A|||||| 22 24582098 . C T . . ANN=T|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|9/15|c.1454C>T|p.Ala485Val|1715/3404|1454/2469|485/822||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.1454C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.1454C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.1454C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.1454C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.1454C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.1454C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.1454C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.1454C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.1454C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.1454C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.1454C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.1454C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.1454C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|11/15|c.1454C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|9/15|c.1454C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|10/15|c.1454C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|8/15|c.1454C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|12/15|c.1454C>T||||||,T|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|7/11|n.2347C>T|||||| 22 24582101 . G A . . ANN=A|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|9/15|c.1457G>A|p.Arg486Gln|1718/3404|1457/2469|486/822||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.1457G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.1457G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.1457G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.1457G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.1457G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.1457G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.1457G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.1457G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.1457G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.1457G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.1457G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.1457G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.1457G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|11/15|c.1457G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|9/15|c.1457G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|10/15|c.1457G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|8/15|c.1457G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|12/15|c.1457G>A||||||,A|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|7/11|n.2350G>A|||||| 22 24582151 . T C . . ANN=C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.1483+24T>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.1483+24T>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.1483+24T>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.1483+24T>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.1483+24T>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.1483+24T>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.1483+24T>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.1483+24T>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.1483+24T>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.1483+24T>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.1483+24T>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.1483+24T>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.1483+24T>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|11/15|c.1483+24T>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|9/15|c.1483+24T>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|10/15|c.1483+24T>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|8/15|c.1483+24T>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|12/15|c.1483+24T>C||||||,C|intron_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|9/14|c.1483+24T>C||||||,C|intron_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|7/10|n.2376+24T>C|||||| 22 24582220 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|9/14|c.1484-5C>T||||||,T|splice_region_variant&intron_variant|LOW|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|7/10|n.2377-5C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.1484-5C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.1484-5C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.1484-5C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.1484-5C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.1484-5C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.1484-5C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.1484-5C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.1484-5C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.1484-5C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.1484-5C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.1484-5C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.1484-5C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.1484-5C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|11/15|c.1484-5C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|9/15|c.1484-5C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|10/15|c.1484-5C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|8/15|c.1484-5C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|12/15|c.1484-5C>T|||||| 22 24582236 . C T . . ANN=T|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|10/15|c.1495C>T|p.Arg499Cys|1756/3404|1495/2469|499/822||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.1495C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.1495C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.1495C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.1495C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.1495C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.1495C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.1495C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.1495C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.1495C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.1495C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.1495C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.1495C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.1495C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|11/15|c.1495C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|9/15|c.1495C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|10/15|c.1495C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|8/15|c.1495C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|12/15|c.1495C>T||||||,T|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|8/11|n.2388C>T|||||| 22 24583138 . G A . . ANN=A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.1643-32G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.1643-32G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.1643-32G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.1643-32G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.1643-32G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.1643-32G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.1643-32G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.1643-32G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.1643-32G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.1643-32G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.1643-32G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.1643-32G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.1643-32G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|11/15|c.1643-32G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|9/15|c.1643-32G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|10/15|c.1643-32G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|8/15|c.1643-32G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|12/15|c.1643-32G>A||||||,A|intron_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|10/14|c.1643-32G>A||||||,A|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|8/11|n.3290G>A|||||| 22 24583193 . G A . . ANN=A|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|11/15|c.1666G>A|p.Gly556Arg|1927/3404|1666/2469|556/822||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.1666G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.1666G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.1666G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.1666G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.1666G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.1666G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.1666G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.1666G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.1666G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.1666G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.1666G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.1666G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.1666G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|11/15|c.1666G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|9/15|c.1666G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|10/15|c.1666G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|8/15|c.1666G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|12/15|c.1666G>A||||||,A|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|8/11|n.3345G>A|||||| 22 24583230 . G T . . ANN=T|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|11/15|c.1703G>T|p.Gly568Val|1964/3404|1703/2469|568/822||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.1703G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.1703G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.1703G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.1703G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.1703G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.1703G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.1703G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.1703G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.1703G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.1703G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.1703G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.1703G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.1703G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|11/15|c.1703G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|9/15|c.1703G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|10/15|c.1703G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|8/15|c.1703G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|12/15|c.1703G>T||||||,T|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|8/11|n.3382G>T|||||| 22 24583262 . A T . . ANN=T|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|11/15|c.1735A>T|p.Ser579Cys|1996/3404|1735/2469|579/822||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.1735A>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.1735A>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.1735A>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.1735A>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.1735A>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.1735A>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.1735A>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.1735A>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.1735A>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.1735A>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.1735A>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.1735A>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.1735A>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|11/15|c.1735A>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|9/15|c.1735A>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|10/15|c.1735A>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|8/15|c.1735A>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|12/15|c.1735A>T||||||,T|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|8/11|n.3414A>T|||||| 22 24583270 . C T . . ANN=T|synonymous_variant|LOW|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|11/15|c.1743C>T|p.Ser581Ser|2004/3404|1743/2469|581/822||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.1743C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.1743C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.1743C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.1743C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.1743C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.1743C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.1743C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.1743C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.1743C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.1743C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.1743C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.1743C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.1743C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|11/15|c.1743C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|9/15|c.1743C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|10/15|c.1743C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|8/15|c.1743C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|12/15|c.1743C>T||||||,T|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|8/11|n.3422C>T|||||| 22 24583271 . G A . . ANN=A|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|11/15|c.1744G>A|p.Val582Ile|2005/3404|1744/2469|582/822||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.1744G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.1744G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.1744G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.1744G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.1744G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.1744G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.1744G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.1744G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.1744G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.1744G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.1744G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.1744G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.1744G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|11/15|c.1744G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|9/15|c.1744G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|10/15|c.1744G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|8/15|c.1744G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|12/15|c.1744G>A||||||,A|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|8/11|n.3423G>A|||||| 22 24583377 . C G . . ANN=G|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|11/15|c.1850C>G|p.Pro617Arg|2111/3404|1850/2469|617/822||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.1850C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.1850C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.1850C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.1850C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.1850C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.1850C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.1850C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.1850C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.1850C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.1850C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.1850C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.1850C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.1850C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|11/15|c.1850C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|9/15|c.1850C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|10/15|c.1850C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|8/15|c.1850C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|12/15|c.1850C>G||||||,G|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|8/11|n.3529C>G|||||| 22 24583384 . C T . . ANN=T|synonymous_variant|LOW|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|11/15|c.1857C>T|p.Thr619Thr|2118/3404|1857/2469|619/822||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.1857C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.1857C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.1857C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.1857C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.1857C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.1857C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.1857C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.1857C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.1857C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.1857C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.1857C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.1857C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.1857C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|11/15|c.1857C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|9/15|c.1857C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|10/15|c.1857C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|8/15|c.1857C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|12/15|c.1857C>T||||||,T|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|8/11|n.3536C>T|||||| 22 24583436 . A G . . ANN=G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.1891+18A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.1891+18A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.1891+18A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.1891+18A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.1891+18A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.1891+18A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.1891+18A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.1891+18A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.1891+18A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.1891+18A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.1891+18A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.1891+18A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.1891+18A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|11/15|c.1891+18A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|9/15|c.1891+18A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|10/15|c.1891+18A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|8/15|c.1891+18A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|12/15|c.1891+18A>G||||||,G|intron_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|11/14|c.1891+18A>G||||||,G|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|8/11|n.3588A>G|||||| 22 24583529 . T A . . ANN=A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.1892-10T>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.1892-10T>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.1892-10T>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.1892-10T>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.1892-10T>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.1892-10T>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.1892-10T>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.1892-10T>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.1892-10T>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.1892-10T>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.1892-10T>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.1892-10T>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.1892-10T>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|11/15|c.1892-10T>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|9/15|c.1892-10T>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|10/15|c.1892-10T>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|8/15|c.1892-10T>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|12/15|c.1892-10T>A||||||,A|intron_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|11/14|c.1892-10T>A||||||,A|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|8/11|n.3681T>A|||||| 22 24583544 . G A . . ANN=A|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|12/15|c.1897G>A|p.Val633Met|2158/3404|1897/2469|633/822||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.1897G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.1897G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.1897G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.1897G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.1897G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.1897G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.1897G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.1897G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.1897G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.1897G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.1897G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.1897G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.1897G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|11/15|c.1897G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|9/15|c.1897G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|10/15|c.1897G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|8/15|c.1897G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|12/15|c.1897G>A||||||,A|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|8/11|n.3696G>A|||||| 22 24583574 . G A . . ANN=A|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|12/15|c.1927G>A|p.Asp643Asn|2188/3404|1927/2469|643/822||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.1927G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.1927G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.1927G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.1927G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.1927G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.1927G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.1927G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.1927G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.1927G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.1927G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.1927G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.1927G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.1927G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|11/15|c.1927G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|9/15|c.1927G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|10/15|c.1927G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|8/15|c.1927G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|12/15|c.1927G>A||||||,A|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|8/11|n.3726G>A|||||| 22 24583630 . C T . . ANN=T|synonymous_variant|LOW|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|12/15|c.1983C>T|p.Phe661Phe|2244/3404|1983/2469|661/822||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.1983C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.1983C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.1983C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.1983C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.1983C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.1983C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.1983C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.1983C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.1983C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.1983C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.1983C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.1983C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.1983C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|11/15|c.1983C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|9/15|c.1983C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|10/15|c.1983C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|8/15|c.1983C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|12/15|c.1983C>T||||||,T|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|8/11|n.3782C>T|||||| 22 24583666 . C T . . ANN=T|synonymous_variant|LOW|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|12/15|c.2019C>T|p.Pro673Pro|2280/3404|2019/2469|673/822||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.2019C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.2019C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.2019C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.2019C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.2019C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.2019C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.2019C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.2019C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.2019C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.2019C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.2019C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.2019C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.2019C>T||||||,T|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|8/11|n.3818C>T|||||| 22 24583786 . G T . . ANN=T|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|12/15|c.2139G>T|p.Gln713His|2400/3404|2139/2469|713/822||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.2139G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.2139G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.2139G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.2139G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.2139G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.2139G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.2139G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.2139G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.2139G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.2139G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.2139G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.2139G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.2139G>T||||||,T|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|8/11|n.3938G>T|||||| 22 24583829 . G A . . ANN=A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.2164+18G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.2164+18G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.2164+18G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.2164+18G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.2164+18G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.2164+18G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.2164+18G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.2164+18G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.2164+18G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.2164+18G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.2164+18G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.2164+18G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.2164+18G>A||||||,A|intron_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|12/14|c.2164+18G>A||||||,A|intron_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|8/10|n.3963+18G>A|||||| 22 24583856 . C T . . ANN=T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.2164+45C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.2164+45C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.2164+45C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.2164+45C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.2164+45C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.2164+45C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.2164+45C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.2164+45C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.2164+45C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.2164+45C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.2164+45C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.2164+45C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.2164+45C>T||||||,T|intron_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|12/14|c.2164+45C>T||||||,T|intron_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|8/10|n.3963+45C>T|||||| 22 24583879 . T C . . ANN=C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.2165-48T>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.2165-48T>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.2165-48T>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.2165-48T>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.2165-48T>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.2165-48T>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.2165-48T>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.2165-48T>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.2165-48T>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.2165-48T>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.2165-48T>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.2165-48T>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.2165-48T>C||||||,C|intron_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|12/14|c.2165-48T>C||||||,C|intron_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|8/10|n.3964-48T>C|||||| 22 24583988 . G A . . ANN=A|synonymous_variant|LOW|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|13/15|c.2226G>A|p.Leu742Leu|2487/3404|2226/2469|742/822||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.2226G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.2226G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.2226G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.2226G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.2226G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.2226G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.2226G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.2226G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.2226G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.2226G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.2226G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.2226G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.2226G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:Sushi|ENST00000358321|protein_coding|13/15|c.2226G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|disulfide_bond|ENST00000358321|protein_coding|13/15|c.2226G>A||||||,A|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|9/11|n.4025G>A|||||| 22 24584021 . C T . . ANN=T|synonymous_variant|LOW|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|13/15|c.2259C>T|p.Asn753Asn|2520/3404|2259/2469|753/822||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.2259C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.2259C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.2259C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.2259C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.2259C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.2259C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.2259C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.2259C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.2259C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.2259C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.2259C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.2259C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.2259C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:Sushi|ENST00000358321|protein_coding|13/15|c.2259C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|disulfide_bond|ENST00000358321|protein_coding|13/15|c.2259C>T||||||,T|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|9/11|n.4058C>T|||||| 22 24584048 . C T . . ANN=T|synonymous_variant|LOW|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|13/15|c.2286C>T|p.Thr762Thr|2547/3404|2286/2469|762/822||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.2286C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.2286C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.2286C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.2286C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.2286C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.2286C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.2286C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.2286C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.2286C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.2286C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.2286C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.2286C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.2286C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:Sushi|ENST00000358321|protein_coding|13/15|c.2286C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|disulfide_bond|ENST00000358321|protein_coding|13/15|c.2286C>T||||||,T|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|9/11|n.4085C>T|||||| 22 24584090 . G A . . ANN=A|synonymous_variant|LOW|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|13/15|c.2328G>A|p.Pro776Pro|2589/3404|2328/2469|776/822||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.2328G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.2328G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.2328G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.2328G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.2328G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.2328G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.2328G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.2328G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.2328G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.2328G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.2328G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.2328G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.2328G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:Sushi|ENST00000358321|protein_coding|13/15|c.2328G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|disulfide_bond|ENST00000358321|protein_coding|13/15|c.2328G>A||||||,A|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|9/11|n.4127G>A|||||| 22 24584179 . C G . . ANN=G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.2342-14C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.2342-14C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.2342-14C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.2342-14C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.2342-14C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.2342-14C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.2342-14C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.2342-14C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.2342-14C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.2342-14C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.2342-14C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.2342-14C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.2342-14C>G||||||,G|intron_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|13/14|c.2342-14C>G||||||,G|intron_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|9/10|n.4141-14C>G|||||| 22 24584359 . C T . . ANN=T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Cytoplasmic|ENST00000358321|protein_coding|14/15|c.2445-21C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Cytoplasmic|ENST00000358321|protein_coding|15/15|c.2445-21C>T||||||,T|intron_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|14/14|c.2445-21C>T||||||,T|intron_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|10/10|n.4244-21C>T|||||| 22 24584366 . C A . . ANN=A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Cytoplasmic|ENST00000358321|protein_coding|14/15|c.2445-14C>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Cytoplasmic|ENST00000358321|protein_coding|15/15|c.2445-14C>A||||||,A|intron_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|14/14|c.2445-14C>A||||||,A|intron_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|10/10|n.4244-14C>A|||||| 22 24616013 . C T . . ANN=T|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|12/12|c.1689G>A|p.Gln563Gln|2023/2408|1689/1764|563/587||,T|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|11/11|c.1590G>A|p.Gln530Gln|1943/2334|1590/1665|530/554||,T|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|12/12|c.1686G>A|p.Gln562Gln|2103/2494|1686/1761|562/586||,T|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000425408|protein_coding|6/6|c.585G>A|p.Gln195Gln|587/972|585/660|195/219||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|10/10|c.1458G>A|p.Gln486Gln|1815/2120|1458/1533|486/510||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.1686G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.1686G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.1686G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.1686G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.1686G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.1686G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.1686G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.1686G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.1686G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.1686G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.1686G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.1686G>A|||||| 22 24616060 . G A . . ANN=A|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|12/12|c.1642C>T|p.Arg548Cys|1976/2408|1642/1764|548/587||,A|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|11/11|c.1543C>T|p.Arg515Cys|1896/2334|1543/1665|515/554||,A|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|12/12|c.1639C>T|p.Arg547Cys|2056/2494|1639/1761|547/586||,A|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000425408|protein_coding|6/6|c.538C>T|p.Arg180Cys|540/972|538/660|180/219||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|10/10|c.1411C>T|p.Arg471Cys|1768/2120|1411/1533|471/510||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.1639C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.1639C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.1639C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.1639C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.1639C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.1639C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.1639C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.1639C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.1639C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.1639C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.1639C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.1639C>T|||||| 22 24621182 . G A . . ANN=A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.1503+31C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.1503+31C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.1503+31C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.1503+31C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.1503+31C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.1503+31C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.1503+31C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.1503+31C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.1503+31C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.1503+31C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.1503+31C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.1503+31C>T||||||,A|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|10/11|c.1506+31C>T||||||,A|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|9/10|c.1407+31C>T||||||,A|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|10/11|c.1503+31C>T||||||,A|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000425408|protein_coding|3/5|c.309+31C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|8/9|c.1275+31C>T|||||| 22 24621190 . C T . . ANN=T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.1503+23G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.1503+23G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.1503+23G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.1503+23G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.1503+23G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.1503+23G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.1503+23G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.1503+23G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.1503+23G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.1503+23G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.1503+23G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.1503+23G>A||||||,T|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|10/11|c.1506+23G>A||||||,T|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|9/10|c.1407+23G>A||||||,T|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|10/11|c.1503+23G>A||||||,T|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000425408|protein_coding|3/5|c.309+23G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|8/9|c.1275+23G>A|||||| 22 24621293 . T C . . ANN=C|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|10/12|c.1426A>G|p.Ile476Val|1760/2408|1426/1764|476/587||,C|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|9/11|c.1327A>G|p.Ile443Val|1680/2334|1327/1665|443/554||,C|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|10/12|c.1423A>G|p.Ile475Val|1840/2494|1423/1761|475/586||,C|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000425408|protein_coding|3/6|c.229A>G|p.Ile77Val|231/972|229/660|77/219||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|8/10|c.1195A>G|p.Ile399Val|1552/2120|1195/1533|399/510||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.1423A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.1423A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.1423A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.1423A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.1423A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.1423A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.1423A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.1423A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.1423A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.1423A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.1423A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.1423A>G|||||| 22 24621324 . G A . . ANN=A|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|10/12|c.1395C>T|p.Gly465Gly|1729/2408|1395/1764|465/587||,A|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|9/11|c.1296C>T|p.Gly432Gly|1649/2334|1296/1665|432/554||,A|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|10/12|c.1392C>T|p.Gly464Gly|1809/2494|1392/1761|464/586||,A|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000425408|protein_coding|3/6|c.198C>T|p.Gly66Gly|200/972|198/660|66/219||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|8/10|c.1164C>T|p.Gly388Gly|1521/2120|1164/1533|388/510||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.1392C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.1392C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.1392C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.1392C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.1392C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.1392C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.1392C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.1392C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.1392C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.1392C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.1392C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.1392C>T|||||| 22 24621394 . G A . . ANN=A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.1337-15C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.1337-15C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.1337-15C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.1337-15C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.1337-15C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.1337-15C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.1337-15C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.1337-15C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.1337-15C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.1337-15C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.1337-15C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.1337-15C>T||||||,A|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|9/11|c.1337-12C>T||||||,A|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|8/10|c.1241-15C>T||||||,A|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|9/11|c.1337-15C>T||||||,A|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000425408|protein_coding|2/5|c.143-15C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|7/9|c.1106-12C>T|||||| 22 24621465 . C T . . ANN=T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.1336+49G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.1336+49G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.1336+49G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.1336+49G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.1336+49G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.1336+49G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.1336+49G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.1336+49G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.1336+49G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.1336+49G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.1336+49G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.1336+49G>A||||||,T|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|9/11|c.1336+49G>A||||||,T|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|8/10|c.1240+49G>A||||||,T|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|9/11|c.1336+49G>A||||||,T|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000425408|protein_coding|2/5|c.142+49G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|7/9|c.1105+49G>A|||||| 22 24621474 . G A . . ANN=A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.1336+40C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.1336+40C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.1336+40C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.1336+40C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.1336+40C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.1336+40C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.1336+40C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.1336+40C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.1336+40C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.1336+40C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.1336+40C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.1336+40C>T||||||,A|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|9/11|c.1336+40C>T||||||,A|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|8/10|c.1240+40C>T||||||,A|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|9/11|c.1336+40C>T||||||,A|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000425408|protein_coding|2/5|c.142+40C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|7/9|c.1105+40C>T|||||| 22 24621491 . C T . . ANN=T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.1336+23G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.1336+23G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.1336+23G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.1336+23G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.1336+23G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.1336+23G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.1336+23G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.1336+23G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.1336+23G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.1336+23G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.1336+23G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.1336+23G>A||||||,T|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|9/11|c.1336+23G>A||||||,T|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|8/10|c.1240+23G>A||||||,T|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|9/11|c.1336+23G>A||||||,T|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000425408|protein_coding|2/5|c.142+23G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|7/9|c.1105+23G>A|||||| 22 24621493 . G C . . ANN=C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.1336+21C>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.1336+21C>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.1336+21C>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.1336+21C>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.1336+21C>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.1336+21C>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.1336+21C>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.1336+21C>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.1336+21C>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.1336+21C>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.1336+21C>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.1336+21C>G||||||,C|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|9/11|c.1336+21C>G||||||,C|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|8/10|c.1240+21C>G||||||,C|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|9/11|c.1336+21C>G||||||,C|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000425408|protein_coding|2/5|c.142+21C>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|7/9|c.1105+21C>G|||||| 22 24621516 . G A . . ANN=A|missense_variant&splice_region_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|9/12|c.1334C>T|p.Pro445Leu|1668/2408|1334/1764|445/587||,A|missense_variant&splice_region_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|8/11|c.1238C>T|p.Pro413Leu|1591/2334|1238/1665|413/554||,A|missense_variant&splice_region_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|9/12|c.1334C>T|p.Pro445Leu|1751/2494|1334/1761|445/586||,A|missense_variant&splice_region_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000425408|protein_coding|2/6|c.140C>T|p.Pro47Leu|142/972|140/660|47/219||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant&splice_region_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|7/10|c.1103C>T|p.Pro368Leu|1460/2120|1103/1533|368/510||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.1334C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.1334C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.1334C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.1334C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.1334C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.1334C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.1334C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.1334C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.1334C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.1334C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.1334C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.1334C>T|||||| 22 24621521 . G T . . ANN=T|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|9/12|c.1329C>A|p.Pro443Pro|1663/2408|1329/1764|443/587||,T|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|8/11|c.1233C>A|p.Pro411Pro|1586/2334|1233/1665|411/554||,T|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|9/12|c.1329C>A|p.Pro443Pro|1746/2494|1329/1761|443/586||,T|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000425408|protein_coding|2/6|c.135C>A|p.Pro45Pro|137/972|135/660|45/219||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|7/10|c.1098C>A|p.Pro366Pro|1455/2120|1098/1533|366/510||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.1329C>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.1329C>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.1329C>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.1329C>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.1329C>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.1329C>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.1329C>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.1329C>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.1329C>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.1329C>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.1329C>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.1329C>A|||||| 22 24621538 . C T . . ANN=T|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|9/12|c.1312G>A|p.Gly438Ser|1646/2408|1312/1764|438/587||,T|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|8/11|c.1216G>A|p.Gly406Ser|1569/2334|1216/1665|406/554||,T|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|9/12|c.1312G>A|p.Gly438Ser|1729/2494|1312/1761|438/586||,T|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000425408|protein_coding|2/6|c.118G>A|p.Gly40Ser|120/972|118/660|40/219||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|7/10|c.1081G>A|p.Gly361Ser|1438/2120|1081/1533|361/510||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.1312G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.1312G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.1312G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.1312G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.1312G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.1312G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.1312G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.1312G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.1312G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.1312G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.1312G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.1312G>A|||||| 22 24621540 . C T . . ANN=T|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|9/12|c.1310G>A|p.Arg437Gln|1644/2408|1310/1764|437/587||,T|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|8/11|c.1214G>A|p.Arg405Gln|1567/2334|1214/1665|405/554||,T|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|9/12|c.1310G>A|p.Arg437Gln|1727/2494|1310/1761|437/586||,T|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000425408|protein_coding|2/6|c.116G>A|p.Arg39Gln|118/972|116/660|39/219||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|7/10|c.1079G>A|p.Arg360Gln|1436/2120|1079/1533|360/510||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.1310G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.1310G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.1310G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.1310G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.1310G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.1310G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.1310G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.1310G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.1310G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.1310G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.1310G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.1310G>A|||||| 22 24621541 . G A . . ANN=A|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|9/12|c.1309C>T|p.Arg437Trp|1643/2408|1309/1764|437/587||,A|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|8/11|c.1213C>T|p.Arg405Trp|1566/2334|1213/1665|405/554||,A|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|9/12|c.1309C>T|p.Arg437Trp|1726/2494|1309/1761|437/586||,A|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000425408|protein_coding|2/6|c.115C>T|p.Arg39Trp|117/972|115/660|39/219||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|7/10|c.1078C>T|p.Arg360Trp|1435/2120|1078/1533|360/510||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.1309C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.1309C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.1309C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.1309C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.1309C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.1309C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.1309C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.1309C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.1309C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.1309C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.1309C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.1309C>T|||||| 22 24621543 . G A . . ANN=A|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|9/12|c.1307C>T|p.Pro436Leu|1641/2408|1307/1764|436/587||,A|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|8/11|c.1211C>T|p.Pro404Leu|1564/2334|1211/1665|404/554||,A|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|9/12|c.1307C>T|p.Pro436Leu|1724/2494|1307/1761|436/586||,A|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000425408|protein_coding|2/6|c.113C>T|p.Pro38Leu|115/972|113/660|38/219||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|7/10|c.1076C>T|p.Pro359Leu|1433/2120|1076/1533|359/510||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.1307C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.1307C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.1307C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.1307C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.1307C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.1307C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.1307C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.1307C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.1307C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.1307C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.1307C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.1307C>T|||||| 22 24621599 . T G . . ANN=G|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|9/12|c.1251A>C|p.Ser417Ser|1585/2408|1251/1764|417/587||,G|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|8/11|c.1155A>C|p.Ser385Ser|1508/2334|1155/1665|385/554||,G|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|9/12|c.1251A>C|p.Ser417Ser|1668/2494|1251/1761|417/586||,G|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000425408|protein_coding|2/6|c.57A>C|p.Ser19Ser|59/972|57/660|19/219||WARNING_TRANSCRIPT_NO_START_CODON,G|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|7/10|c.1020A>C|p.Ser340Ser|1377/2120|1020/1533|340/510||,G|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.1251A>C||||||,G|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.1251A>C||||||,G|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.1251A>C||||||,G|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.1251A>C||||||,G|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.1251A>C||||||,G|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.1251A>C||||||,G|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.1251A>C||||||,G|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.1251A>C||||||,G|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.1251A>C||||||,G|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.1251A>C||||||,G|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.1251A>C||||||,G|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.1251A>C|||||| 22 24621607 . C G . . ANN=G|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|9/12|c.1243G>C|p.Val415Leu|1577/2408|1243/1764|415/587||,G|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|8/11|c.1147G>C|p.Val383Leu|1500/2334|1147/1665|383/554||,G|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|9/12|c.1243G>C|p.Val415Leu|1660/2494|1243/1761|415/586||,G|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000425408|protein_coding|2/6|c.49G>C|p.Val17Leu|51/972|49/660|17/219||WARNING_TRANSCRIPT_NO_START_CODON,G|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|7/10|c.1012G>C|p.Val338Leu|1369/2120|1012/1533|338/510||,G|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.1243G>C||||||,G|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.1243G>C||||||,G|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.1243G>C||||||,G|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.1243G>C||||||,G|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.1243G>C||||||,G|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.1243G>C||||||,G|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.1243G>C||||||,G|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.1243G>C||||||,G|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.1243G>C||||||,G|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.1243G>C||||||,G|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.1243G>C||||||,G|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.1243G>C|||||| 22 24622020 . C T . . ANN=T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.1229+24G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.1229+24G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.1229+24G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.1229+24G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.1229+24G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.1229+24G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.1229+24G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.1229+24G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.1229+24G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.1229+24G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.1229+24G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.1229+24G>A||||||,T|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|8/11|c.1229+24G>A||||||,T|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|7/10|c.1133+24G>A||||||,T|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|8/11|c.1229+24G>A||||||,T|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000425408|protein_coding|1/5|c.35+24G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|6/9|c.998+24G>A|||||| 22 24622124 . G A . . ANN=A|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|8/12|c.1149C>T|p.Gly383Gly|1483/2408|1149/1764|383/587||,A|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|7/11|c.1053C>T|p.Gly351Gly|1406/2334|1053/1665|351/554||,A|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|8/12|c.1149C>T|p.Gly383Gly|1566/2494|1149/1761|383/586||,A|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|6/10|c.918C>T|p.Gly306Gly|1275/2120|918/1533|306/510||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.1149C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.1149C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.1149C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.1149C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.1149C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.1149C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.1149C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.1149C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.1149C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.1149C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.1149C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.1149C>T||||||,A|upstream_gene_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000425408|protein_coding||c.-3C>T|||||44|WARNING_TRANSCRIPT_NO_START_CODON 22 24622136 . G A . . ANN=A|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|8/12|c.1137C>T|p.Ala379Ala|1471/2408|1137/1764|379/587||,A|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|7/11|c.1041C>T|p.Ala347Ala|1394/2334|1041/1665|347/554||,A|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|8/12|c.1137C>T|p.Ala379Ala|1554/2494|1137/1761|379/586||,A|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|6/10|c.906C>T|p.Ala302Ala|1263/2120|906/1533|302/510||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.1137C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.1137C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.1137C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.1137C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.1137C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.1137C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.1137C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.1137C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.1137C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.1137C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.1137C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.1137C>T||||||,A|upstream_gene_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000425408|protein_coding||c.-3C>T|||||56|WARNING_TRANSCRIPT_NO_START_CODON 22 24622284 . C T . . ANN=T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.1039-50G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.1039-50G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.1039-50G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.1039-50G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.1039-50G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.1039-50G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.1039-50G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.1039-50G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.1039-50G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.1039-50G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.1039-50G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.1039-50G>A||||||,T|upstream_gene_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000425408|protein_coding||c.-3G>A|||||204|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|7/11|c.1039-50G>A||||||,T|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|6/10|c.943-50G>A||||||,T|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|7/11|c.1039-50G>A||||||,T|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|5/9|c.808-50G>A|||||| 22 24622608 . C T . . ANN=T|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|7/12|c.1029G>A|p.Pro343Pro|1363/2408|1029/1764|343/587||,T|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|6/11|c.933G>A|p.Pro311Pro|1286/2334|933/1665|311/554||,T|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|7/12|c.1029G>A|p.Pro343Pro|1446/2494|1029/1761|343/586||,T|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|5/10|c.798G>A|p.Pro266Pro|1155/2120|798/1533|266/510||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.1029G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.1029G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.1029G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.1029G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.1029G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.1029G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.1029G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.1029G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.1029G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.1029G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.1029G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.1029G>A||||||,T|upstream_gene_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000425408|protein_coding||c.-3G>A|||||528|WARNING_TRANSCRIPT_NO_START_CODON 22 24622648 . T C . . ANN=C|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|7/12|c.989A>G|p.Lys330Arg|1323/2408|989/1764|330/587||,C|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|6/11|c.893A>G|p.Lys298Arg|1246/2334|893/1665|298/554||,C|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|7/12|c.989A>G|p.Lys330Arg|1406/2494|989/1761|330/586||,C|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|5/10|c.758A>G|p.Lys253Arg|1115/2120|758/1533|253/510||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.989A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.989A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.989A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.989A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.989A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.989A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.989A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.989A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.989A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.989A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.989A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.989A>G||||||,C|upstream_gene_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000425408|protein_coding||c.-3A>G|||||568|WARNING_TRANSCRIPT_NO_START_CODON 22 24622656 . C T . . ANN=T|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|7/12|c.981G>A|p.Lys327Lys|1315/2408|981/1764|327/587||,T|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|6/11|c.885G>A|p.Lys295Lys|1238/2334|885/1665|295/554||,T|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|7/12|c.981G>A|p.Lys327Lys|1398/2494|981/1761|327/586||,T|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|5/10|c.750G>A|p.Lys250Lys|1107/2120|750/1533|250/510||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.981G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.981G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.981G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.981G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.981G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.981G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.981G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.981G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.981G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.981G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.981G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.981G>A||||||,T|upstream_gene_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000425408|protein_coding||c.-3G>A|||||576|WARNING_TRANSCRIPT_NO_START_CODON 22 24622734 . C T . . ANN=T|splice_region_variant&synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|7/12|c.903G>A|p.Gly301Gly|1237/2408|903/1764|301/587||,T|splice_region_variant&synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|6/11|c.807G>A|p.Gly269Gly|1160/2334|807/1665|269/554||,T|splice_region_variant&synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|7/12|c.903G>A|p.Gly301Gly|1320/2494|903/1761|301/586||,T|splice_region_variant&synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|5/10|c.672G>A|p.Gly224Gly|1029/2120|672/1533|224/510||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.903G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.903G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.903G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.903G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.903G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.903G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.903G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.903G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.903G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.903G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.903G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.903G>A||||||,T|upstream_gene_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000425408|protein_coding||c.-3G>A|||||654|WARNING_TRANSCRIPT_NO_START_CODON 22 24627309 . C T . . ANN=T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.901+43G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.901+43G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.901+43G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.901+43G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.901+43G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.901+43G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.901+43G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.901+43G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.901+43G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.901+43G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.901+43G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.901+43G>A||||||,T|downstream_gene_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000424217|protein_coding||c.*576G>A|||||1632|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|6/11|c.901+43G>A||||||,T|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|5/10|c.805+43G>A||||||,T|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|6/11|c.901+43G>A||||||,T|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|4/9|c.670+43G>A|||||| 22 24627416 . G T . . ANN=T|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|6/12|c.837C>A|p.Thr279Thr|1171/2408|837/1764|279/587||,T|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|5/11|c.741C>A|p.Thr247Thr|1094/2334|741/1665|247/554||,T|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|6/12|c.837C>A|p.Thr279Thr|1254/2494|837/1761|279/586||,T|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|4/10|c.606C>A|p.Thr202Thr|963/2120|606/1533|202/510||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.837C>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.837C>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.837C>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.837C>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.837C>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.837C>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.837C>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.837C>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.837C>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.837C>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.837C>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.837C>A||||||,T|downstream_gene_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000424217|protein_coding||c.*576C>A|||||1525|WARNING_TRANSCRIPT_NO_STOP_CODON 22 24627458 . G A . . ANN=A|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|6/12|c.795C>T|p.Pro265Pro|1129/2408|795/1764|265/587||,A|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|5/11|c.699C>T|p.Pro233Pro|1052/2334|699/1665|233/554||,A|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|6/12|c.795C>T|p.Pro265Pro|1212/2494|795/1761|265/586||,A|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|4/10|c.564C>T|p.Pro188Pro|921/2120|564/1533|188/510||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.795C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.795C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.795C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.795C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.795C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.795C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.795C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.795C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.795C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.795C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.795C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.795C>T||||||,A|downstream_gene_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000424217|protein_coding||c.*576C>T|||||1483|WARNING_TRANSCRIPT_NO_STOP_CODON 22 24627540 . T A . . ANN=A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.755-42A>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.755-42A>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.755-42A>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.755-42A>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.755-42A>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.755-42A>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.755-42A>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.755-42A>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.755-42A>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.755-42A>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.755-42A>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.755-42A>T||||||,A|downstream_gene_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000424217|protein_coding||c.*576A>T|||||1401|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|5/11|c.755-42A>T||||||,A|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|4/10|c.659-42A>T||||||,A|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|5/11|c.755-42A>T||||||,A|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|3/9|c.524-42A>T|||||| 22 24628062 . C T . . ANN=T|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|5/12|c.711G>A|p.Thr237Thr|1045/2408|711/1764|237/587||,T|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|4/11|c.615G>A|p.Thr205Thr|968/2334|615/1665|205/554||,T|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|5/12|c.711G>A|p.Thr237Thr|1128/2494|711/1761|237/586||,T|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|3/10|c.480G>A|p.Thr160Thr|837/2120|480/1533|160/510||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.711G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.711G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.711G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.711G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.711G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.711G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.711G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.711G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.711G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.711G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.711G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.711G>A||||||,T|downstream_gene_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000424217|protein_coding||c.*576G>A|||||879|WARNING_TRANSCRIPT_NO_STOP_CODON 22 24628161 . G A . . ANN=A|sequence_feature|MODERATE|GGT5|ENSG00000099998|glycosylation_site:N-linked__GlcNAc..._|ENST00000398292|protein_coding|5/12|c.612C>T||||||,A|sequence_feature|MODERATE|GGT5|ENSG00000099998|glycosylation_site:N-linked__GlcNAc..._|ENST00000263112|protein_coding|4/11|c.516C>T||||||,A|sequence_feature|MODERATE|GGT5|ENSG00000099998|glycosylation_site:N-linked__GlcNAc..._|ENST00000327365|protein_coding|5/12|c.612C>T||||||,A|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|5/12|c.612C>T|p.Asn204Asn|946/2408|612/1764|204/587||,A|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|4/11|c.516C>T|p.Asn172Asn|869/2334|516/1665|172/554||,A|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|5/12|c.612C>T|p.Asn204Asn|1029/2494|612/1761|204/586||,A|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|3/10|c.381C>T|p.Asn127Asn|738/2120|381/1533|127/510||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.612C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.612C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.612C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.612C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.612C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.612C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.612C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.612C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.612C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.612C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.612C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.612C>T||||||,A|downstream_gene_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000424217|protein_coding||c.*576C>T|||||780|WARNING_TRANSCRIPT_NO_STOP_CODON 22 24628763 . G T . . ANN=T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.596+28C>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.596+28C>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.596+28C>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.596+28C>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.596+28C>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.596+28C>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.596+28C>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.596+28C>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.596+28C>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.596+28C>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.596+28C>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.596+28C>A||||||,T|downstream_gene_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000424217|protein_coding||c.*576C>A|||||178|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|4/11|c.596+28C>A||||||,T|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|3/10|c.500+28C>A||||||,T|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|4/11|c.596+28C>A||||||,T|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|2/9|c.369+28C>A|||||| 22 24628852 . CAG C . . ANN=|frameshift_variant|HIGH|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|4/12|c.533_534delCT|p.Pro178fs|868/2408|533/1764|178/587||,|frameshift_variant|HIGH|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|3/11|c.437_438delCT|p.Pro146fs|791/2334|437/1665|146/554||,|frameshift_variant|HIGH|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|4/12|c.533_534delCT|p.Pro178fs|951/2494|533/1761|178/586||,|frameshift_variant|HIGH|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|2/10|c.306_307delCT|p.Pro102fs|664/2120|306/1533|102/510||,|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.533_534delCT||||||,|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.533_534delCT||||||,|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.533_534delCT||||||,|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.533_534delCT||||||,|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.533_534delCT||||||,|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.533_534delCT||||||,|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.533_534delCT||||||,|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.533_534delCT||||||,|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.533_534delCT||||||,|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.533_534delCT||||||,|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.533_534delCT||||||,|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.533_534delCT||||||,|downstream_gene_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000424217|protein_coding||c.*576_*576delCT|||||88|WARNING_TRANSCRIPT_NO_STOP_CODON;LOF=(GGT5|ENSG00000099998|6|0.67) 22 24628872 . C T . . ANN=T|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|4/12|c.515G>A|p.Gly172Glu|849/2408|515/1764|172/587||,T|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|3/11|c.419G>A|p.Gly140Glu|772/2334|419/1665|140/554||,T|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|4/12|c.515G>A|p.Gly172Glu|932/2494|515/1761|172/586||,T|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|2/10|c.288G>A|p.Arg96Arg|645/2120|288/1533|96/510||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.515G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.515G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.515G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.515G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.515G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.515G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.515G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.515G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.515G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.515G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.515G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.515G>A||||||,T|downstream_gene_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000424217|protein_coding||c.*576G>A|||||69|WARNING_TRANSCRIPT_NO_STOP_CODON 22 24628895 . C T . . ANN=T|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|2/10|c.265G>A|p.Ala89Thr|622/2120|265/1533|89/510||,T|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|4/12|c.492G>A|p.Gln164Gln|826/2408|492/1764|164/587||,T|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|3/11|c.396G>A|p.Gln132Gln|749/2334|396/1665|132/554||,T|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|4/12|c.492G>A|p.Gln164Gln|909/2494|492/1761|164/586||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.492G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.492G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.492G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.492G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.492G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.492G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.492G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.492G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.492G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.492G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.492G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.492G>A||||||,T|downstream_gene_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000424217|protein_coding||c.*576G>A|||||46|WARNING_TRANSCRIPT_NO_STOP_CODON 22 24628908 . G A . . ANN=A|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|4/12|c.479C>T|p.Ala160Val|813/2408|479/1764|160/587||,A|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|3/11|c.383C>T|p.Ala128Val|736/2334|383/1665|128/554||,A|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|4/12|c.479C>T|p.Ala160Val|896/2494|479/1761|160/586||,A|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|2/10|c.252C>T|p.Gly84Gly|609/2120|252/1533|84/510||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.479C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.479C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.479C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.479C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.479C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.479C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.479C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.479C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.479C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.479C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.479C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.479C>T||||||,A|downstream_gene_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000424217|protein_coding||c.*576C>T|||||33|WARNING_TRANSCRIPT_NO_STOP_CODON 22 24628928 . G A . . ANN=A|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|2/10|c.232C>T|p.Pro78Ser|589/2120|232/1533|78/510||,A|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|4/12|c.459C>T|p.Arg153Arg|793/2408|459/1764|153/587||,A|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|3/11|c.363C>T|p.Arg121Arg|716/2334|363/1665|121/554||,A|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|4/12|c.459C>T|p.Arg153Arg|876/2494|459/1761|153/586||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.459C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.459C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.459C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.459C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.459C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.459C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.459C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.459C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.459C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.459C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.459C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.459C>T||||||,A|downstream_gene_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000424217|protein_coding||c.*576C>T|||||13|WARNING_TRANSCRIPT_NO_STOP_CODON 22 24629461 . G A,T . . ANN=A|splice_region_variant&intron_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|3/11|c.400+5C>T||||||,T|splice_region_variant&intron_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|3/11|c.400+5C>A||||||,A|splice_region_variant&intron_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|3/11|c.400+5C>T||||||,T|splice_region_variant&intron_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|3/11|c.400+5C>A||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.400+5C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.400+5C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.400+5C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.400+5C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.400+5C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.400+5C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.400+5C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.400+5C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.400+5C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.400+5C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.400+5C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.400+5C>T||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.400+5C>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.400+5C>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.400+5C>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.400+5C>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.400+5C>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.400+5C>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.400+5C>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.400+5C>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.400+5C>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.400+5C>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.400+5C>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.400+5C>A||||||,A|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|2/10|c.304+381C>T||||||,T|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|2/10|c.304+381C>A||||||,A|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|1/9|c.174-475C>T||||||,T|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|1/9|c.174-475C>A||||||,A|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000424217|protein_coding|1/1|c.174-475C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000424217|protein_coding|1/1|c.174-475C>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 24629478 . G A . . ANN=A|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|3/12|c.388C>T|p.Pro130Ser|722/2408|388/1764|130/587||,A|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|3/12|c.388C>T|p.Pro130Ser|805/2494|388/1761|130/586||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.388C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.388C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.388C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.388C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.388C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.388C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.388C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.388C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.388C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.388C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.388C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.388C>T||||||,A|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|2/10|c.304+364C>T||||||,A|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|1/9|c.174-492C>T||||||,A|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000424217|protein_coding|1/1|c.174-492C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 24629596 . C T . . ANN=T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.305-35G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.305-35G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.305-35G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.305-35G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.305-35G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.305-35G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.305-35G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.305-35G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.305-35G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.305-35G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.305-35G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.305-35G>A||||||,T|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|2/11|c.305-35G>A||||||,T|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|2/10|c.304+246G>A||||||,T|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|2/11|c.305-35G>A||||||,T|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|1/9|c.174-610G>A||||||,T|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000424217|protein_coding|1/1|c.174-610G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 24629793 . T C . . ANN=C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.304+49A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.304+49A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.304+49A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.304+49A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.304+49A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.304+49A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.304+49A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.304+49A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.304+49A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.304+49A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.304+49A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.304+49A>G||||||,C|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|2/11|c.304+49A>G||||||,C|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|2/10|c.304+49A>G||||||,C|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|2/11|c.304+49A>G||||||,C|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|1/9|c.174-807A>G||||||,C|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000424217|protein_coding|1/1|c.174-807A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 24629795 . G A . . ANN=A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.304+47C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.304+47C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.304+47C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.304+47C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.304+47C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.304+47C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.304+47C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.304+47C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.304+47C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.304+47C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.304+47C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.304+47C>T||||||,A|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|2/11|c.304+47C>T||||||,A|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|2/10|c.304+47C>T||||||,A|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|2/11|c.304+47C>T||||||,A|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|1/9|c.174-809C>T||||||,A|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000424217|protein_coding|1/1|c.174-809C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 24629879 . G A . . ANN=A|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|2/12|c.267C>T|p.Gly89Gly|601/2408|267/1764|89/587||,A|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|2/11|c.267C>T|p.Gly89Gly|620/2334|267/1665|89/554||,A|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|2/12|c.267C>T|p.Gly89Gly|684/2494|267/1761|89/586||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.267C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.267C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.267C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.267C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.267C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.267C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.267C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.267C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.267C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.267C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.267C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.267C>T||||||,A|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|1/9|c.174-893C>T||||||,A|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000424217|protein_coding|1/1|c.174-893C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 24629905 . C T . . ANN=T|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|2/12|c.241G>A|p.Val81Ile|575/2408|241/1764|81/587||,T|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|2/11|c.241G>A|p.Val81Ile|594/2334|241/1665|81/554||,T|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|2/12|c.241G>A|p.Val81Ile|658/2494|241/1761|81/586||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.241G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.241G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.241G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.241G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.241G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.241G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.241G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.241G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.241G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.241G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.241G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.241G>A||||||,T|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|1/9|c.174-919G>A||||||,T|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000424217|protein_coding|1/1|c.174-919G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 24629906 . G A . . ANN=A|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|2/12|c.240C>T|p.Val80Val|574/2408|240/1764|80/587||,A|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|2/11|c.240C>T|p.Val80Val|593/2334|240/1665|80/554||,A|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|2/12|c.240C>T|p.Val80Val|657/2494|240/1761|80/586||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.240C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.240C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.240C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.240C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.240C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.240C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.240C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.240C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.240C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.240C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.240C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.240C>T||||||,A|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|1/9|c.174-920C>T||||||,A|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000424217|protein_coding|1/1|c.174-920C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 24629908 . C T . . ANN=T|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|2/12|c.238G>A|p.Val80Ile|572/2408|238/1764|80/587||,T|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|2/11|c.238G>A|p.Val80Ile|591/2334|238/1665|80/554||,T|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|2/12|c.238G>A|p.Val80Ile|655/2494|238/1761|80/586||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.238G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.238G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.238G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.238G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.238G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.238G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.238G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.238G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.238G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.238G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.238G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.238G>A||||||,T|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|1/9|c.174-922G>A||||||,T|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000424217|protein_coding|1/1|c.174-922G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 24629912 . G A . . ANN=A|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|2/12|c.234C>T|p.Thr78Thr|568/2408|234/1764|78/587||,A|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|2/11|c.234C>T|p.Thr78Thr|587/2334|234/1665|78/554||,A|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|2/12|c.234C>T|p.Thr78Thr|651/2494|234/1761|78/586||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.234C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.234C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.234C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.234C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.234C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.234C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.234C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.234C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.234C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.234C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.234C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.234C>T||||||,A|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|1/9|c.174-926C>T||||||,A|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000424217|protein_coding|1/1|c.174-926C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 24629930 . G A . . ANN=A|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|2/12|c.216C>T|p.Ile72Ile|550/2408|216/1764|72/587||,A|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|2/11|c.216C>T|p.Ile72Ile|569/2334|216/1665|72/554||,A|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|2/12|c.216C>T|p.Ile72Ile|633/2494|216/1761|72/586||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.216C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.216C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.216C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.216C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.216C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.216C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.216C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.216C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.216C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.216C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.216C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.216C>T||||||,A|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|1/9|c.174-944C>T||||||,A|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000424217|protein_coding|1/1|c.174-944C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 24629959 . G C . . ANN=C|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|2/12|c.187C>G|p.Gln63Glu|521/2408|187/1764|63/587||,C|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|2/11|c.187C>G|p.Gln63Glu|540/2334|187/1665|63/554||,C|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|2/12|c.187C>G|p.Gln63Glu|604/2494|187/1761|63/586||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.187C>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.187C>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.187C>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.187C>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.187C>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.187C>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.187C>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.187C>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.187C>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.187C>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.187C>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.187C>G||||||,C|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|1/9|c.174-973C>G||||||,C|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000424217|protein_coding|1/1|c.174-973C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 24640574 . G T . . ANN=T|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|1/12|c.120C>A|p.Ala40Ala|454/2408|120/1764|40/587||,T|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|1/11|c.120C>A|p.Ala40Ala|473/2334|120/1665|40/554||,T|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|1/12|c.120C>A|p.Ala40Ala|537/2494|120/1761|40/586||,T|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|1/10|c.120C>A|p.Ala40Ala|477/2120|120/1533|40/510||,T|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000424217|protein_coding|1/2|c.120C>A|p.Ala40Ala|477/576|120/219|40/72||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.120C>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.120C>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.120C>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.120C>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.120C>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.120C>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.120C>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.120C>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.120C>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.120C>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.120C>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.120C>A||||||,T|downstream_gene_variant|MODIFIER|AP000354.4|ENSG00000230712|transcript|ENST00000402176|unprocessed_pseudogene||n.*664C>A|||||3468| 22 24640666 . T C . . ANN=C|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|1/12|c.28A>G|p.Ser10Gly|362/2408|28/1764|10/587||,C|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|1/11|c.28A>G|p.Ser10Gly|381/2334|28/1665|10/554||,C|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|1/12|c.28A>G|p.Ser10Gly|445/2494|28/1761|10/586||,C|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|1/10|c.28A>G|p.Ser10Gly|385/2120|28/1533|10/510||,C|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000424217|protein_coding|1/2|c.28A>G|p.Ser10Gly|385/576|28/219|10/72||WARNING_TRANSCRIPT_NO_STOP_CODON,C|sequence_feature|LOW|GGT5|ENSG00000099998|transmembrane_region:Transmembrane_region|ENST00000398292|protein_coding|1/12|c.28A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|transmembrane_region:Transmembrane_region|ENST00000263112|protein_coding|1/11|c.28A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|transmembrane_region:Transmembrane_region|ENST00000327365|protein_coding|1/12|c.28A>G||||||,C|downstream_gene_variant|MODIFIER|AP000354.4|ENSG00000230712|transcript|ENST00000402176|unprocessed_pseudogene||n.*664A>G|||||3376| 22 24640670 . C T . . ANN=T|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|1/12|c.24G>A|p.Thr8Thr|358/2408|24/1764|8/587||,T|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|1/11|c.24G>A|p.Thr8Thr|377/2334|24/1665|8/554||,T|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|1/12|c.24G>A|p.Thr8Thr|441/2494|24/1761|8/586||,T|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|1/10|c.24G>A|p.Thr8Thr|381/2120|24/1533|8/510||,T|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000424217|protein_coding|1/2|c.24G>A|p.Thr8Thr|381/576|24/219|8/72||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Cytoplasmic|ENST00000398292|protein_coding|1/12|c.24G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Cytoplasmic|ENST00000263112|protein_coding|1/11|c.24G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Cytoplasmic|ENST00000327365|protein_coding|1/12|c.24G>A||||||,T|downstream_gene_variant|MODIFIER|AP000354.4|ENSG00000230712|transcript|ENST00000402176|unprocessed_pseudogene||n.*664G>A|||||3372| 22 24640687 . G A . . ANN=A|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|1/12|c.7C>T|p.Arg3Trp|341/2408|7/1764|3/587||,A|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|1/11|c.7C>T|p.Arg3Trp|360/2334|7/1665|3/554||,A|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|1/12|c.7C>T|p.Arg3Trp|424/2494|7/1761|3/586||,A|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|1/10|c.7C>T|p.Arg3Trp|364/2120|7/1533|3/510||,A|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000424217|protein_coding|1/2|c.7C>T|p.Arg3Trp|364/576|7/219|3/72||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Cytoplasmic|ENST00000398292|protein_coding|1/12|c.7C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Cytoplasmic|ENST00000263112|protein_coding|1/11|c.7C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Cytoplasmic|ENST00000327365|protein_coding|1/12|c.7C>T||||||,A|downstream_gene_variant|MODIFIER|AP000354.4|ENSG00000230712|transcript|ENST00000402176|unprocessed_pseudogene||n.*664C>T|||||3355| 22 24698155 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|2/16|c.-37-8T>C||||||,C|splice_region_variant&intron_variant|LOW|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|2/19|n.-37-8T>C||||||,C|splice_region_variant&intron_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|1/15|c.-37-8T>C||||||,C|splice_region_variant&intron_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding|1/6|c.-37-8T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|splice_region_variant&intron_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000416735|processed_transcript|1/4|n.102-8T>C||||||,C|splice_region_variant&intron_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|1/14|c.-37-8T>C||||||,C|upstream_gene_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000440893|protein_coding||c.-88T>C|||||2209|WARNING_TRANSCRIPT_NO_STOP_CODON 22 24698357 . T G . . ANN=G|splice_region_variant&intron_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|3/16|c.153+5T>G||||||,G|splice_region_variant&intron_variant|LOW|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|3/19|n.153+5T>G||||||,G|splice_region_variant&intron_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|2/15|c.153+5T>G||||||,G|splice_region_variant&intron_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding|2/6|c.153+5T>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|splice_region_variant&intron_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000416735|processed_transcript|2/4|n.291+5T>G||||||,G|splice_region_variant&intron_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|2/14|c.153+5T>G||||||,G|upstream_gene_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000440893|protein_coding||c.-88T>G|||||2007|WARNING_TRANSCRIPT_NO_STOP_CODON 22 24709270 . G A . . ANN=A|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|3/16|c.154-11G>A||||||,A|intron_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|3/19|n.154-11G>A||||||,A|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|2/15|c.154-11G>A||||||,A|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding|2/6|c.154-11G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000416735|processed_transcript|2/4|n.292-11G>A||||||,A|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|2/14|c.154-11G>A||||||,A|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000440893|protein_coding|1/2|c.-30-11G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 24709420 . C T . . ANN=T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|4/17|c.293C>T|p.Ser98Phe|578/6756|293/3354|98/1117||,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|3/16|c.293C>T|p.Ser98Phe|496/6673|293/3354|98/1117||,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding|3/7|c.293C>T|p.Ser98Phe|492/2565|293/2366|98/787||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|3/15|c.293C>T|p.Ser98Phe|431/3525|293/3237|98/1078||,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000440893|protein_coding|2/3|c.110C>T|p.Ser37Phe|197/612|110/525|37/174||WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|4/20|n.293C>T||||||,T|non_coding_exon_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000416735|processed_transcript|3/5|n.431C>T|||||| 22 24717258 . A G . . ANN=G|missense_variant&splice_region_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|5/17|c.310A>G|p.Thr104Ala|595/6756|310/3354|104/1117||,G|missense_variant&splice_region_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|4/16|c.310A>G|p.Thr104Ala|513/6673|310/3354|104/1117||,G|missense_variant&splice_region_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding|4/7|c.310A>G|p.Thr104Ala|509/2565|310/2366|104/787||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant&splice_region_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|4/15|c.310A>G|p.Thr104Ala|448/3525|310/3237|104/1078||,G|missense_variant&splice_region_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000440893|protein_coding|3/3|c.127A>G|p.Thr43Ala|214/612|127/525|43/174||WARNING_TRANSCRIPT_NO_STOP_CODON,G|splice_region_variant&non_coding_exon_variant|LOW|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|5/20|n.310A>G||||||,G|splice_region_variant&non_coding_exon_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000416735|processed_transcript|4/5|n.448A>G|||||| 22 24717411 . C T . . ANN=T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|5/17|c.463C>T|p.Arg155Cys|748/6756|463/3354|155/1117||,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|4/16|c.463C>T|p.Arg155Cys|666/6673|463/3354|155/1117||,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding|4/7|c.463C>T|p.Arg155Cys|662/2565|463/2366|155/787||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|4/15|c.463C>T|p.Arg155Cys|601/3525|463/3237|155/1078||,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000440893|protein_coding|3/3|c.280C>T|p.Arg94Cys|367/612|280/525|94/174||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000416735|processed_transcript|4/4|n.481+120C>T||||||,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|5/20|n.463C>T|||||| 22 24717444 . A G . . ANN=G|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|5/17|c.496A>G|p.Met166Val|781/6756|496/3354|166/1117||,G|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|4/16|c.496A>G|p.Met166Val|699/6673|496/3354|166/1117||,G|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding|4/7|c.496A>G|p.Met166Val|695/2565|496/2366|166/787||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|4/15|c.496A>G|p.Met166Val|634/3525|496/3237|166/1078||,G|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000440893|protein_coding|3/3|c.313A>G|p.Met105Val|400/612|313/525|105/174||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000416735|processed_transcript|4/4|n.481+153A>G||||||,G|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|5/20|n.496A>G|||||| 22 24717510 . C T . . ANN=T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|5/17|c.562C>T|p.Leu188Phe|847/6756|562/3354|188/1117||,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|4/16|c.562C>T|p.Leu188Phe|765/6673|562/3354|188/1117||,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding|4/7|c.562C>T|p.Leu188Phe|761/2565|562/2366|188/787||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|4/15|c.562C>T|p.Leu188Phe|700/3525|562/3237|188/1078||,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000440893|protein_coding|3/3|c.379C>T|p.Leu127Phe|466/612|379/525|127/174||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|4/16|c.562C>T||||||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|4/15|c.562C>T||||||,T|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000416735|processed_transcript|4/4|n.481+219C>T||||||,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|5/20|n.562C>T|||||| 22 24717517 . C T . . ANN=T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|5/17|c.569C>T|p.Thr190Met|854/6756|569/3354|190/1117||,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|4/16|c.569C>T|p.Thr190Met|772/6673|569/3354|190/1117||,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding|4/7|c.569C>T|p.Thr190Met|768/2565|569/2366|190/787||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|4/15|c.569C>T|p.Thr190Met|707/3525|569/3237|190/1078||,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000440893|protein_coding|3/3|c.386C>T|p.Thr129Met|473/612|386/525|129/174||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|4/16|c.569C>T||||||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|4/15|c.569C>T||||||,T|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000416735|processed_transcript|4/4|n.481+226C>T||||||,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|5/20|n.569C>T|||||| 22 24717518 . G A . . ANN=A|synonymous_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|5/17|c.570G>A|p.Thr190Thr|855/6756|570/3354|190/1117||,A|synonymous_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|4/16|c.570G>A|p.Thr190Thr|773/6673|570/3354|190/1117||,A|synonymous_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding|4/7|c.570G>A|p.Thr190Thr|769/2565|570/2366|190/787||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|4/15|c.570G>A|p.Thr190Thr|708/3525|570/3237|190/1078||,A|synonymous_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000440893|protein_coding|3/3|c.387G>A|p.Thr129Thr|474/612|387/525|129/174||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|4/16|c.570G>A||||||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|4/15|c.570G>A||||||,A|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000416735|processed_transcript|4/4|n.481+227G>A||||||,A|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|5/20|n.570G>A|||||| 22 24717548 . A T . . ANN=T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|5/17|c.600A>T|p.Leu200Phe|885/6756|600/3354|200/1117||,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|4/16|c.600A>T|p.Leu200Phe|803/6673|600/3354|200/1117||,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding|4/7|c.600A>T|p.Leu200Phe|799/2565|600/2366|200/787||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|4/15|c.600A>T|p.Leu200Phe|738/3525|600/3237|200/1078||,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000440893|protein_coding|3/3|c.417A>T|p.Leu139Phe|504/612|417/525|139/174||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|4/16|c.600A>T||||||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|4/15|c.600A>T||||||,T|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000416735|processed_transcript|4/4|n.481+257A>T||||||,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|5/20|n.600A>T|||||| 22 24717602 . T A . . ANN=A|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|5/17|c.654T>A|p.Asp218Glu|939/6756|654/3354|218/1117||,A|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|4/16|c.654T>A|p.Asp218Glu|857/6673|654/3354|218/1117||,A|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding|4/7|c.654T>A|p.Asp218Glu|853/2565|654/2366|218/787||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|4/15|c.654T>A|p.Asp218Glu|792/3525|654/3237|218/1078||,A|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000440893|protein_coding|3/3|c.471T>A|p.Asp157Glu|558/612|471/525|157/174||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|4/16|c.654T>A||||||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|4/15|c.654T>A||||||,A|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000416735|processed_transcript|4/4|n.481+311T>A||||||,A|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|5/20|n.654T>A|||||| 22 24717637 . C T . . ANN=T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|5/17|c.689C>T|p.Thr230Ile|974/6756|689/3354|230/1117||,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|4/16|c.689C>T|p.Thr230Ile|892/6673|689/3354|230/1117||,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding|4/7|c.689C>T|p.Thr230Ile|888/2565|689/2366|230/787||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|4/15|c.689C>T|p.Thr230Ile|827/3525|689/3237|230/1078||,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000440893|protein_coding|3/3|c.506C>T|p.Thr169Ile|593/612|506/525|169/174||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|4/16|c.689C>T||||||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|4/15|c.689C>T||||||,T|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000416735|processed_transcript|4/4|n.481+346C>T||||||,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|5/20|n.689C>T|||||| 22 24717655 . C T . . ANN=T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|5/17|c.707C>T|p.Pro236Leu|992/6756|707/3354|236/1117||,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|4/16|c.707C>T|p.Pro236Leu|910/6673|707/3354|236/1117||,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding|4/7|c.707C>T|p.Pro236Leu|906/2565|707/2366|236/787||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|4/15|c.707C>T|p.Pro236Leu|845/3525|707/3237|236/1078||,T|missense_variant&splice_region_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000440893|protein_coding|3/3|c.524C>T|p.Pro175Leu|611/612|524/525|175/174||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|4/16|c.707C>T||||||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|4/15|c.707C>T||||||,T|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000416735|processed_transcript|4/4|n.481+364C>T||||||,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|5/20|n.707C>T|||||| 22 24717820 . A G . . ANN=G|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|5/17|c.872A>G|p.Tyr291Cys|1157/6756|872/3354|291/1117||,G|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|4/16|c.872A>G|p.Tyr291Cys|1075/6673|872/3354|291/1117||,G|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding|4/7|c.872A>G|p.Tyr291Cys|1071/2565|872/2366|291/787||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|4/15|c.872A>G|p.Tyr291Cys|1010/3525|872/3237|291/1078||,G|downstream_gene_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000440893|protein_coding||c.*612A>G|||||164|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000416735|processed_transcript|4/4|n.481+529A>G||||||,G|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|5/20|n.872A>G|||||| 22 24717843 . A G . . ANN=G|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|5/17|c.895A>G|p.Thr299Ala|1180/6756|895/3354|299/1117||,G|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|4/16|c.895A>G|p.Thr299Ala|1098/6673|895/3354|299/1117||,G|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding|4/7|c.895A>G|p.Thr299Ala|1094/2565|895/2366|299/787||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|4/15|c.895A>G|p.Thr299Ala|1033/3525|895/3237|299/1078||,G|downstream_gene_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000440893|protein_coding||c.*612A>G|||||187|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000416735|processed_transcript|4/4|n.481+552A>G||||||,G|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|5/20|n.895A>G|||||| 22 24717850 . A G . . ANN=G|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|5/17|c.902A>G|p.Asp301Gly|1187/6756|902/3354|301/1117||,G|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|4/16|c.902A>G|p.Asp301Gly|1105/6673|902/3354|301/1117||,G|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding|4/7|c.902A>G|p.Asp301Gly|1101/2565|902/2366|301/787||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|4/15|c.902A>G|p.Asp301Gly|1040/3525|902/3237|301/1078||,G|downstream_gene_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000440893|protein_coding||c.*612A>G|||||194|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000416735|processed_transcript|4/4|n.481+559A>G||||||,G|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|5/20|n.902A>G|||||| 22 24717974 . G A . . ANN=A|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|5/17|c.1026G>A|p.Met342Ile|1311/6756|1026/3354|342/1117||,A|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|4/16|c.1026G>A|p.Met342Ile|1229/6673|1026/3354|342/1117||,A|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding|4/7|c.1026G>A|p.Met342Ile|1225/2565|1026/2366|342/787||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|4/15|c.1026G>A|p.Met342Ile|1164/3525|1026/3237|342/1078||,A|downstream_gene_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000440893|protein_coding||c.*612G>A|||||318|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000416735|processed_transcript|4/4|n.481+683G>A||||||,A|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|5/20|n.1026G>A|||||| 22 24718096 . G C . . ANN=C|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|5/17|c.1148G>C|p.Gly383Ala|1433/6756|1148/3354|383/1117||,C|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|4/16|c.1148G>C|p.Gly383Ala|1351/6673|1148/3354|383/1117||,C|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding|4/7|c.1148G>C|p.Gly383Ala|1347/2565|1148/2366|383/787||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|4/15|c.1148G>C|p.Gly383Ala|1286/3525|1148/3237|383/1078||,C|downstream_gene_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000440893|protein_coding||c.*612G>C|||||440|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000416735|processed_transcript|4/4|n.481+805G>C||||||,C|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|5/20|n.1148G>C|||||| 22 24718209 . C T . . ANN=T|synonymous_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|5/17|c.1261C>T|p.Leu421Leu|1546/6756|1261/3354|421/1117||,T|synonymous_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|4/16|c.1261C>T|p.Leu421Leu|1464/6673|1261/3354|421/1117||,T|synonymous_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding|4/7|c.1261C>T|p.Leu421Leu|1460/2565|1261/2366|421/787||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|4/15|c.1261C>T|p.Leu421Leu|1399/3525|1261/3237|421/1078||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|4/16|c.1261C>T||||||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|4/15|c.1261C>T||||||,T|downstream_gene_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000440893|protein_coding||c.*612C>T|||||553|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000416735|processed_transcript|4/4|n.481+918C>T||||||,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|5/20|n.1261C>T|||||| 22 24718253 . C T . . ANN=T|synonymous_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|5/17|c.1305C>T|p.Asn435Asn|1590/6756|1305/3354|435/1117||,T|synonymous_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|4/16|c.1305C>T|p.Asn435Asn|1508/6673|1305/3354|435/1117||,T|synonymous_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding|4/7|c.1305C>T|p.Asn435Asn|1504/2565|1305/2366|435/787||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|4/15|c.1305C>T|p.Asn435Asn|1443/3525|1305/3237|435/1078||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|4/16|c.1305C>T||||||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|4/15|c.1305C>T||||||,T|downstream_gene_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000440893|protein_coding||c.*612C>T|||||597|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000416735|processed_transcript|4/4|n.481+962C>T||||||,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|5/20|n.1305C>T|||||| 22 24718277 . T G . . ANN=G|synonymous_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|5/17|c.1329T>G|p.Val443Val|1614/6756|1329/3354|443/1117||,G|synonymous_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|4/16|c.1329T>G|p.Val443Val|1532/6673|1329/3354|443/1117||,G|synonymous_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding|4/7|c.1329T>G|p.Val443Val|1528/2565|1329/2366|443/787||WARNING_TRANSCRIPT_INCOMPLETE,G|synonymous_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|4/15|c.1329T>G|p.Val443Val|1467/3525|1329/3237|443/1078||,G|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|4/16|c.1329T>G||||||,G|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|4/15|c.1329T>G||||||,G|downstream_gene_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000440893|protein_coding||c.*612T>G|||||621|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000416735|processed_transcript|4/4|n.481+986T>G||||||,G|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|5/20|n.1329T>G|||||| 22 24718288 . A G . . ANN=G|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|5/17|c.1340A>G|p.Glu447Gly|1625/6756|1340/3354|447/1117||,G|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|4/16|c.1340A>G|p.Glu447Gly|1543/6673|1340/3354|447/1117||,G|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding|4/7|c.1340A>G|p.Glu447Gly|1539/2565|1340/2366|447/787||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|4/15|c.1340A>G|p.Glu447Gly|1478/3525|1340/3237|447/1078||,G|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|4/16|c.1340A>G||||||,G|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|4/15|c.1340A>G||||||,G|downstream_gene_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000440893|protein_coding||c.*612A>G|||||632|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000416735|processed_transcript|4/4|n.481+997A>G||||||,G|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|5/20|n.1340A>G|||||| 22 24718307 . C T . . ANN=T|synonymous_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|5/17|c.1359C>T|p.Ser453Ser|1644/6756|1359/3354|453/1117||,T|synonymous_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|4/16|c.1359C>T|p.Ser453Ser|1562/6673|1359/3354|453/1117||,T|synonymous_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding|4/7|c.1359C>T|p.Ser453Ser|1558/2565|1359/2366|453/787||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|4/15|c.1359C>T|p.Ser453Ser|1497/3525|1359/3237|453/1078||,T|downstream_gene_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000440893|protein_coding||c.*612C>T|||||651|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000416735|processed_transcript|4/4|n.481+1016C>T||||||,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|5/20|n.1359C>T|||||| 22 24718408 . G A . . ANN=A|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|5/17|c.1460G>A|p.Arg487His|1745/6756|1460/3354|487/1117||,A|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|4/16|c.1460G>A|p.Arg487His|1663/6673|1460/3354|487/1117||,A|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding|4/7|c.1460G>A|p.Arg487His|1659/2565|1460/2366|487/787||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|4/15|c.1460G>A|p.Arg487His|1598/3525|1460/3237|487/1078||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|4/16|c.1460G>A||||||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|5/16|c.1460G>A||||||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|6/16|c.1460G>A||||||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|8/16|c.1460G>A||||||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|7/16|c.1460G>A||||||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|4/15|c.1460G>A||||||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|5/15|c.1460G>A||||||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|6/15|c.1460G>A||||||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|8/15|c.1460G>A||||||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|7/15|c.1460G>A||||||,A|downstream_gene_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000440893|protein_coding||c.*612G>A|||||752|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000416735|processed_transcript|4/4|n.481+1117G>A||||||,A|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|5/20|n.1460G>A|||||| 22 24718490 . G A . . ANN=A|synonymous_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|5/17|c.1542G>A|p.Gln514Gln|1827/6756|1542/3354|514/1117||,A|synonymous_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|4/16|c.1542G>A|p.Gln514Gln|1745/6673|1542/3354|514/1117||,A|synonymous_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding|4/7|c.1542G>A|p.Gln514Gln|1741/2565|1542/2366|514/787||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|4/15|c.1542G>A|p.Gln514Gln|1680/3525|1542/3237|514/1078||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|4/16|c.1542G>A||||||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|5/16|c.1542G>A||||||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|6/16|c.1542G>A||||||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|8/16|c.1542G>A||||||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|7/16|c.1542G>A||||||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|4/15|c.1542G>A||||||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|5/15|c.1542G>A||||||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|6/15|c.1542G>A||||||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|8/15|c.1542G>A||||||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|7/15|c.1542G>A||||||,A|downstream_gene_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000440893|protein_coding||c.*612G>A|||||834|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000416735|processed_transcript|4/4|n.481+1199G>A||||||,A|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|5/20|n.1542G>A|||||| 22 24718677 . A C . . ANN=C|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|5/17|c.1729A>C|p.Asn577His|2014/6756|1729/3354|577/1117||,C|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|4/16|c.1729A>C|p.Asn577His|1932/6673|1729/3354|577/1117||,C|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding|4/7|c.1729A>C|p.Asn577His|1928/2565|1729/2366|577/787||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|4/15|c.1729A>C|p.Asn577His|1867/3525|1729/3237|577/1078||,C|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|4/16|c.1729A>C||||||,C|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|5/16|c.1729A>C||||||,C|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|6/16|c.1729A>C||||||,C|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|8/16|c.1729A>C||||||,C|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|7/16|c.1729A>C||||||,C|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|4/15|c.1729A>C||||||,C|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|5/15|c.1729A>C||||||,C|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|6/15|c.1729A>C||||||,C|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|8/15|c.1729A>C||||||,C|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|7/15|c.1729A>C||||||,C|downstream_gene_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000440893|protein_coding||c.*612A>C|||||1021|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000416735|processed_transcript|4/4|n.481+1386A>C||||||,C|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|5/20|n.1729A>C|||||| 22 24718681 . G A . . ANN=A|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|5/17|c.1733G>A|p.Arg578His|2018/6756|1733/3354|578/1117||,A|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|4/16|c.1733G>A|p.Arg578His|1936/6673|1733/3354|578/1117||,A|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding|4/7|c.1733G>A|p.Arg578His|1932/2565|1733/2366|578/787||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|4/15|c.1733G>A|p.Arg578His|1871/3525|1733/3237|578/1078||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|4/16|c.1733G>A||||||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|5/16|c.1733G>A||||||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|6/16|c.1733G>A||||||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|8/16|c.1733G>A||||||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|7/16|c.1733G>A||||||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|4/15|c.1733G>A||||||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|5/15|c.1733G>A||||||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|6/15|c.1733G>A||||||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|8/15|c.1733G>A||||||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|7/15|c.1733G>A||||||,A|downstream_gene_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000440893|protein_coding||c.*612G>A|||||1025|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000416735|processed_transcript|4/4|n.481+1390G>A||||||,A|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|5/20|n.1733G>A|||||| 22 24720219 . A C . . ANN=C|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|6/17|c.1970A>C|p.Glu657Ala|2255/6756|1970/3354|657/1117||,C|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|5/16|c.1970A>C|p.Glu657Ala|2173/6673|1970/3354|657/1117||,C|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding|5/7|c.1970A>C|p.Glu657Ala|2169/2565|1970/2366|657/787||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|5/15|c.1970A>C|p.Glu657Ala|2108/3525|1970/3237|657/1078||,C|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|4/16|c.1970A>C||||||,C|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|5/16|c.1970A>C||||||,C|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|6/16|c.1970A>C||||||,C|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|8/16|c.1970A>C||||||,C|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|7/16|c.1970A>C||||||,C|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|4/15|c.1970A>C||||||,C|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|5/15|c.1970A>C||||||,C|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|6/15|c.1970A>C||||||,C|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|8/15|c.1970A>C||||||,C|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|7/15|c.1970A>C||||||,C|downstream_gene_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000440893|protein_coding||c.*612A>C|||||2563|WARNING_TRANSCRIPT_NO_STOP_CODON,C|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|6/20|n.1970A>C||||||,C|non_coding_exon_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000416735|processed_transcript|5/5|n.513A>C|||||| 22 24720253 . G A . . ANN=A|synonymous_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|6/17|c.2004G>A|p.Thr668Thr|2289/6756|2004/3354|668/1117||,A|synonymous_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|5/16|c.2004G>A|p.Thr668Thr|2207/6673|2004/3354|668/1117||,A|synonymous_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding|5/7|c.2004G>A|p.Thr668Thr|2203/2565|2004/2366|668/787||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|5/15|c.2004G>A|p.Thr668Thr|2142/3525|2004/3237|668/1078||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|4/16|c.2004G>A||||||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|5/16|c.2004G>A||||||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|6/16|c.2004G>A||||||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|8/16|c.2004G>A||||||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|7/16|c.2004G>A||||||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|4/15|c.2004G>A||||||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|5/15|c.2004G>A||||||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|6/15|c.2004G>A||||||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|8/15|c.2004G>A||||||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|7/15|c.2004G>A||||||,A|downstream_gene_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000440893|protein_coding||c.*612G>A|||||2597|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|6/20|n.2004G>A||||||,A|non_coding_exon_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000416735|processed_transcript|5/5|n.547G>A|||||| 22 24724816 . A G . . ANN=G|missense_variant&splice_region_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|7/17|c.2149A>G|p.Thr717Ala|2434/6756|2149/3354|717/1117||,G|missense_variant&splice_region_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|6/16|c.2149A>G|p.Thr717Ala|2352/6673|2149/3354|717/1117||,G|missense_variant&splice_region_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding|6/7|c.2149A>G|p.Thr717Ala|2348/2565|2149/2366|717/787||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant&splice_region_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|6/15|c.2149A>G|p.Thr717Ala|2287/3525|2149/3237|717/1078||,G|splice_region_variant&non_coding_exon_variant|LOW|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|7/20|n.2149A>G||||||,G|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|4/16|c.2149A>G||||||,G|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|5/16|c.2149A>G||||||,G|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|6/16|c.2149A>G||||||,G|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|8/16|c.2149A>G||||||,G|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|7/16|c.2149A>G||||||,G|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|4/15|c.2149A>G||||||,G|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|5/15|c.2149A>G||||||,G|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|6/15|c.2149A>G||||||,G|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|8/15|c.2149A>G||||||,G|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|7/15|c.2149A>G||||||,G|downstream_gene_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000416735|processed_transcript||n.*566A>G|||||4544| 22 24724872 . C T . . ANN=T|synonymous_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|7/17|c.2205C>T|p.Leu735Leu|2490/6756|2205/3354|735/1117||,T|synonymous_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|6/16|c.2205C>T|p.Leu735Leu|2408/6673|2205/3354|735/1117||,T|synonymous_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding|6/7|c.2205C>T|p.Leu735Leu|2404/2565|2205/2366|735/787||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|6/15|c.2205C>T|p.Leu735Leu|2343/3525|2205/3237|735/1078||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|4/16|c.2205C>T||||||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|5/16|c.2205C>T||||||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|6/16|c.2205C>T||||||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|8/16|c.2205C>T||||||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|7/16|c.2205C>T||||||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|4/15|c.2205C>T||||||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|5/15|c.2205C>T||||||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|6/15|c.2205C>T||||||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|8/15|c.2205C>T||||||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|7/15|c.2205C>T||||||,T|downstream_gene_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000416735|processed_transcript||n.*566C>T|||||4600|,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|7/20|n.2205C>T|||||| 22 24726329 . C T . . ANN=T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|8/17|c.2326C>T|p.Arg776Cys|2611/6756|2326/3354|776/1117||,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|7/16|c.2326C>T|p.Arg776Cys|2529/6673|2326/3354|776/1117||,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding|7/7|c.2326C>T|p.Arg776Cys|2525/2565|2326/2366|776/787||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|7/15|c.2326C>T|p.Arg776Cys|2464/3525|2326/3237|776/1078||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|4/16|c.2326C>T||||||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|5/16|c.2326C>T||||||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|6/16|c.2326C>T||||||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|8/16|c.2326C>T||||||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|7/16|c.2326C>T||||||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|4/15|c.2326C>T||||||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|5/15|c.2326C>T||||||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|6/15|c.2326C>T||||||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|8/15|c.2326C>T||||||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|7/15|c.2326C>T||||||,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|8/20|n.2326C>T|||||| 22 24726430 . T C . . ANN=C|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|4/16|c.2396+31T>C||||||,C|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|5/16|c.2396+31T>C||||||,C|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|6/16|c.2396+31T>C||||||,C|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|8/16|c.2396+31T>C||||||,C|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|7/16|c.2396+31T>C||||||,C|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|4/15|c.2396+31T>C||||||,C|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|5/15|c.2396+31T>C||||||,C|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|6/15|c.2396+31T>C||||||,C|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|8/15|c.2396+31T>C||||||,C|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|7/15|c.2396+31T>C||||||,C|downstream_gene_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding||c.*2565T>C|||||61|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|8/16|c.2396+31T>C||||||,C|intron_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|8/19|n.2396+31T>C||||||,C|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|7/15|c.2396+31T>C||||||,C|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|7/14|c.2396+31T>C|||||| 22 24730340 . C T . . ANN=T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|4/16|c.2397-38C>T||||||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|5/16|c.2397-38C>T||||||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|6/16|c.2397-38C>T||||||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|8/16|c.2397-38C>T||||||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|7/16|c.2397-38C>T||||||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|4/15|c.2397-38C>T||||||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|5/15|c.2397-38C>T||||||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|6/15|c.2397-38C>T||||||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|8/15|c.2397-38C>T||||||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|7/15|c.2397-38C>T||||||,T|downstream_gene_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding||c.*2565C>T|||||3971|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|8/16|c.2397-38C>T||||||,T|intron_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|8/19|n.2397-38C>T||||||,T|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|7/15|c.2397-38C>T||||||,T|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|7/14|c.2397-38C>T|||||| 22 24730420 . C T . . ANN=T|synonymous_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|9/17|c.2439C>T|p.Ala813Ala|2724/6756|2439/3354|813/1117||,T|synonymous_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|8/16|c.2439C>T|p.Ala813Ala|2642/6673|2439/3354|813/1117||,T|synonymous_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|8/15|c.2439C>T|p.Ala813Ala|2577/3525|2439/3237|813/1078||,T|downstream_gene_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding||c.*2565C>T|||||4051|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|9/20|n.2439C>T|||||| 22 24730548 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|9/16|c.2560+7A>G||||||,G|splice_region_variant&intron_variant|LOW|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|9/19|n.2560+7A>G||||||,G|splice_region_variant&intron_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|8/15|c.2560+7A>G||||||,G|splice_region_variant&intron_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|8/14|c.2560+7A>G||||||,G|downstream_gene_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding||c.*2565A>G|||||4179|WARNING_TRANSCRIPT_INCOMPLETE 22 24730554 . T C . . ANN=C|downstream_gene_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding||c.*2565T>C|||||4185|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|9/16|c.2560+13T>C||||||,C|intron_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|9/19|n.2560+13T>C||||||,C|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|8/15|c.2560+13T>C||||||,C|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|8/14|c.2560+13T>C|||||| 22 24730558 . A G . . ANN=G|downstream_gene_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding||c.*2565A>G|||||4189|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|9/16|c.2560+17A>G||||||,G|intron_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|9/19|n.2560+17A>G||||||,G|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|8/15|c.2560+17A>G||||||,G|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|8/14|c.2560+17A>G|||||| 22 24730578 . G A . . ANN=A|downstream_gene_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding||c.*2565G>A|||||4209|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|9/16|c.2560+37G>A||||||,A|intron_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|9/19|n.2560+37G>A||||||,A|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|8/15|c.2560+37G>A||||||,A|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|8/14|c.2560+37G>A|||||| 22 24730582 . G A . . ANN=A|downstream_gene_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding||c.*2565G>A|||||4213|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|9/16|c.2560+41G>A||||||,A|intron_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|9/19|n.2560+41G>A||||||,A|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|8/15|c.2560+41G>A||||||,A|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|8/14|c.2560+41G>A|||||| 22 24730587 . C T . . ANN=T|downstream_gene_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding||c.*2565C>T|||||4218|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|9/16|c.2560+46C>T||||||,T|intron_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|9/19|n.2560+46C>T||||||,T|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|8/15|c.2560+46C>T||||||,T|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|8/14|c.2560+46C>T|||||| 22 24734322 . A G . . ANN=G|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|9/16|c.2561-32A>G||||||,G|intron_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|9/19|n.2561-32A>G||||||,G|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|8/15|c.2561-32A>G||||||,G|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|8/14|c.2561-32A>G|||||| 22 24734452 . G T . . ANN=T|splice_region_variant&intron_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|10/16|c.2652+7G>T||||||,T|splice_region_variant&intron_variant|LOW|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|10/19|n.2652+7G>T||||||,T|splice_region_variant&intron_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|9/15|c.2652+7G>T||||||,T|splice_region_variant&intron_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|9/14|c.2652+7G>T|||||| 22 24734459 . A G . . ANN=G|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|10/16|c.2652+14A>G||||||,G|intron_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|10/19|n.2652+14A>G||||||,G|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|9/15|c.2652+14A>G||||||,G|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|9/14|c.2652+14A>G|||||| 22 24734474 . T C . . ANN=C|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|10/16|c.2652+29T>C||||||,C|intron_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|10/19|n.2652+29T>C||||||,C|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|9/15|c.2652+29T>C||||||,C|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|9/14|c.2652+29T>C|||||| 22 24743056 . A G . . ANN=G|splice_region_variant&synonymous_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|11/17|c.2655A>G|p.Arg885Arg|2940/6756|2655/3354|885/1117||,G|splice_region_variant&non_coding_exon_variant|LOW|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|12/20|n.*41A>G||||||,G|splice_region_variant&synonymous_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|10/16|c.2655A>G|p.Arg885Arg|2858/6673|2655/3354|885/1117||,G|splice_region_variant&synonymous_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|10/15|c.2655A>G|p.Arg885Arg|2793/3525|2655/3237|885/1078||,G|3_prime_UTR_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|12/20|n.*41A>G|||||3523| 22 24743090 . C T . . ANN=T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|11/17|c.2689C>T|p.Pro897Ser|2974/6756|2689/3354|897/1117||,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|10/16|c.2689C>T|p.Pro897Ser|2892/6673|2689/3354|897/1117||,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|10/15|c.2689C>T|p.Pro897Ser|2827/3525|2689/3237|897/1078||,T|3_prime_UTR_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|12/20|n.*75C>T|||||3557|,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|12/20|n.*75C>T|||||| 22 24743154 . A G . . ANN=G|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|11/16|c.2743+10A>G||||||,G|intron_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|12/19|n.*129+10A>G||||||,G|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|10/15|c.2743+10A>G||||||,G|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|10/14|c.2743+10A>G|||||| 22 24743183 . A G . . ANN=G|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|11/16|c.2743+39A>G||||||,G|intron_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|12/19|n.*129+39A>G||||||,G|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|10/15|c.2743+39A>G||||||,G|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|10/14|c.2743+39A>G|||||| 22 24759206 . G A . . ANN=A|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|11/16|c.2744-23G>A||||||,A|intron_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|12/19|n.*130-23G>A||||||,A|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|10/15|c.2744-23G>A||||||,A|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|10/14|c.2744-23G>A|||||| 22 24759213 . T C . . ANN=C|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|11/16|c.2744-16T>C||||||,C|intron_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|12/19|n.*130-16T>C||||||,C|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|10/15|c.2744-16T>C||||||,C|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|10/14|c.2744-16T>C|||||| 22 24759287 . G A . . ANN=A|synonymous_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|12/17|c.2802G>A|p.Ala934Ala|3087/6756|2802/3354|934/1117||,A|synonymous_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|11/16|c.2802G>A|p.Ala934Ala|3005/6673|2802/3354|934/1117||,A|synonymous_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|11/15|c.2802G>A|p.Ala934Ala|2940/3525|2802/3237|934/1078||,A|3_prime_UTR_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|13/20|n.*188G>A|||||19754|,A|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|13/20|n.*188G>A|||||| 22 24759331 . A G . . ANN=G|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|12/16|c.2827+19A>G||||||,G|intron_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|13/19|n.*213+19A>G||||||,G|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|11/15|c.2827+19A>G||||||,G|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|11/14|c.2827+19A>G|||||| 22 24761415 . A G . . ANN=G|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|12/16|c.2828-29A>G||||||,G|intron_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|13/19|n.*214-29A>G||||||,G|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|11/15|c.2828-29A>G||||||,G|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|11/14|c.2828-29A>G|||||| 22 24761467 . G A . . ANN=A|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|13/17|c.2851G>A|p.Val951Met|3136/6756|2851/3354|951/1117||,A|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|12/16|c.2851G>A|p.Val951Met|3054/6673|2851/3354|951/1117||,A|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|12/15|c.2851G>A|p.Val951Met|2989/3525|2851/3237|951/1078||,A|3_prime_UTR_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|14/20|n.*237G>A|||||21934|,A|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|14/20|n.*237G>A|||||| 22 24761498 . C T . . ANN=T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|13/17|c.2882C>T|p.Ala961Val|3167/6756|2882/3354|961/1117||,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|12/16|c.2882C>T|p.Ala961Val|3085/6673|2882/3354|961/1117||,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|12/15|c.2882C>T|p.Ala961Val|3020/3525|2882/3237|961/1078||,T|3_prime_UTR_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|14/20|n.*268C>T|||||21965|,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|14/20|n.*268C>T|||||| 22 24761514 . G T . . ANN=T|synonymous_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|13/17|c.2898G>T|p.Leu966Leu|3183/6756|2898/3354|966/1117||,T|synonymous_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|12/16|c.2898G>T|p.Leu966Leu|3101/6673|2898/3354|966/1117||,T|synonymous_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|12/15|c.2898G>T|p.Leu966Leu|3036/3525|2898/3237|966/1078||,T|3_prime_UTR_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|14/20|n.*284G>T|||||21981|,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|14/20|n.*284G>T|||||| 22 24761568 . A T . . ANN=T|synonymous_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|13/17|c.2952A>T|p.Ala984Ala|3237/6756|2952/3354|984/1117||,T|synonymous_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|12/16|c.2952A>T|p.Ala984Ala|3155/6673|2952/3354|984/1117||,T|synonymous_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|12/15|c.2952A>T|p.Ala984Ala|3090/3525|2952/3237|984/1078||,T|3_prime_UTR_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|14/20|n.*338A>T|||||22035|,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|14/20|n.*338A>T|||||| 22 24761646 . G A . . ANN=A|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|13/16|c.2984+46G>A||||||,A|intron_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|14/19|n.*370+46G>A||||||,A|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|12/15|c.2984+46G>A||||||,A|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|12/14|c.2984+46G>A|||||| 22 24765214 . T C . . ANN=C|synonymous_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|14/17|c.3013T>C|p.Leu1005Leu|3298/6756|3013/3354|1005/1117||,C|synonymous_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|13/16|c.3013T>C|p.Leu1005Leu|3216/6673|3013/3354|1005/1117||,C|synonymous_variant|LOW|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|13/15|c.3013T>C|p.Leu1005Leu|3151/3525|3013/3237|1005/1078||,C|3_prime_UTR_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|15/20|n.*399T>C|||||25681|,C|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|15/20|n.*399T>C|||||| 22 24808628 . A T . . ANN=T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|16/17|c.3217A>T|p.Met1073Leu|3502/6756|3217/3354|1073/1117||,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|15/16|c.3217A>T|p.Met1073Leu|3420/6673|3217/3354|1073/1117||,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|14/15|c.3100A>T|p.Met1034Leu|3238/3525|3100/3237|1034/1078||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|domain:CH|ENST00000437398|protein_coding|15/16|c.3217A>T||||||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|domain:CH|ENST00000437398|protein_coding|16/16|c.3217A>T||||||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|domain:CH|ENST00000437398|protein_coding|13/16|c.3217A>T||||||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|domain:CH|ENST00000437398|protein_coding|14/16|c.3217A>T||||||,T|3_prime_UTR_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|17/20|n.*603A>T|||||69095|,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|17/20|n.*603A>T||||||,T|non_coding_exon_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000472799|retained_intron|1/2|n.501A>T|||||| 22 24808709 . C T . . ANN=T|sequence_feature|LOW|SPECC1L|ENSG00000100014|domain:CH|ENST00000437398|protein_coding|15/16|c.3264+34C>T||||||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|domain:CH|ENST00000437398|protein_coding|16/16|c.3264+34C>T||||||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|domain:CH|ENST00000437398|protein_coding|13/16|c.3264+34C>T||||||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|domain:CH|ENST00000437398|protein_coding|14/16|c.3264+34C>T||||||,T|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|16/16|c.3264+34C>T||||||,T|intron_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|17/19|n.*650+34C>T||||||,T|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|15/15|c.3264+34C>T||||||,T|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|14/14|c.3147+34C>T||||||,T|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000472799|retained_intron|1/1|n.548+34C>T|||||| 22 24808722 . TAAG T . . ANN=|sequence_feature|LOW|SPECC1L|ENSG00000100014|domain:CH|ENST00000437398|protein_coding|15/16|c.3264+48_3264+50delAAG||||||,|sequence_feature|LOW|SPECC1L|ENSG00000100014|domain:CH|ENST00000437398|protein_coding|16/16|c.3264+48_3264+50delAAG||||||,|sequence_feature|LOW|SPECC1L|ENSG00000100014|domain:CH|ENST00000437398|protein_coding|13/16|c.3264+48_3264+50delAAG||||||,|sequence_feature|LOW|SPECC1L|ENSG00000100014|domain:CH|ENST00000437398|protein_coding|14/16|c.3264+48_3264+50delAAG||||||,|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|16/16|c.3264+52_3264+54delAGA||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|17/19|n.*650+52_*650+54delAGA||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|15/15|c.3264+52_3264+54delAGA||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|14/14|c.3147+52_3147+54delAGA||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000472799|retained_intron|1/1|n.548+52_548+54delAGA||||||INFO_REALIGN_3_PRIME 22 24810611 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|17/17|c.*20C>T|||||20|,T|3_prime_UTR_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|18/20|n.*760C>T|||||71078|,T|3_prime_UTR_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|16/16|c.*20C>T|||||20|,T|3_prime_UTR_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|15/15|c.*20C>T|||||20|,T|upstream_gene_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000467385|processed_transcript||n.-1C>T|||||3236|,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|18/20|n.*760C>T||||||,T|non_coding_exon_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000472799|retained_intron|2/2|n.658C>T|||||| 22 24810638 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|17/17|c.*47C>T|||||47|,T|3_prime_UTR_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|18/20|n.*787C>T|||||71105|,T|3_prime_UTR_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|16/16|c.*47C>T|||||47|,T|3_prime_UTR_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|15/15|c.*47C>T|||||47|,T|upstream_gene_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000467385|processed_transcript||n.-1C>T|||||3209|,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|18/20|n.*787C>T||||||,T|non_coding_exon_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000472799|retained_intron|2/2|n.685C>T|||||| 22 24829383 . T C . . ANN=C|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000337539|protein_coding|2/3|c.11T>C|p.Met4Thr|470/2569|11/1239|4/412||,C|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000424232|protein_coding|2/2|c.11T>C|p.Met4Thr|317/569|11/263|4/86||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000486108|protein_coding|2/2|c.11T>C|p.Met4Thr|612/926|11/325|4/107||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000464977|protein_coding|3/3|c.11T>C|p.Met4Thr|550/558|11/19|4/5||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000444262|protein_coding|2/3|c.11T>C|p.Met4Thr|433/1517|11/1095|4/364||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000496258|protein_coding|2/2|c.11T>C|p.Met4Thr|450/689|11/250|4/82||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000472248|protein_coding|3/3|c.11T>C|p.Met4Thr|641/718|11/88|4/28||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000436735|protein_coding|2/2|c.11T>C|p.Met4Thr|487/669|11/193|4/63||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000439591|protein_coding|2/2|c.11T>C|p.Met4Thr|341/560|11/230|4/75||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|ADORA2A|ENSG00000128271|topological_domain:Extracellular|ENST00000337539|protein_coding|2/3|c.11T>C||||||,C|sequence_feature|LOW|ADORA2A|ENSG00000128271|helix|ENST00000337539|protein_coding|2/3|c.11T>C||||||,C|3_prime_UTR_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|19/20|n.*1146T>C|||||89850|,C|downstream_gene_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000467385|processed_transcript||n.*549T>C|||||223|,C|downstream_gene_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000486351|processed_transcript||n.*578T>C|||||207|,C|downstream_gene_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000427813|antisense||n.*2027A>G|||||4861|,C|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000543438|antisense|4/6|n.575-981A>G||||||,C|intron_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000496497|processed_transcript|1/1|n.100+5689T>C||||||,C|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000326341|antisense|4/6|n.560-981A>G||||||,C|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|19/20|n.*1146T>C|||||| 22 24829453 . G A . . ANN=A|synonymous_variant|LOW|ADORA2A|ENSG00000128271|transcript|ENST00000337539|protein_coding|2/3|c.81G>A|p.Val27Val|540/2569|81/1239|27/412||,A|synonymous_variant|LOW|ADORA2A|ENSG00000128271|transcript|ENST00000424232|protein_coding|2/2|c.81G>A|p.Val27Val|387/569|81/263|27/86||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|ADORA2A|ENSG00000128271|transcript|ENST00000486108|protein_coding|2/2|c.81G>A|p.Val27Val|682/926|81/325|27/107||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|ADORA2A|ENSG00000128271|transcript|ENST00000444262|protein_coding|2/3|c.81G>A|p.Val27Val|503/1517|81/1095|27/364||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|ADORA2A|ENSG00000128271|transcript|ENST00000496258|protein_coding|2/2|c.81G>A|p.Val27Val|520/689|81/250|27/82||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|ADORA2A|ENSG00000128271|transcript|ENST00000472248|protein_coding|3/3|c.81G>A|p.Val27Val|711/718|81/88|27/28||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|ADORA2A|ENSG00000128271|transcript|ENST00000436735|protein_coding|2/2|c.81G>A|p.Val27Val|557/669|81/193|27/63||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|ADORA2A|ENSG00000128271|transcript|ENST00000439591|protein_coding|2/2|c.81G>A|p.Val27Val|411/560|81/230|27/75||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|ADORA2A|ENSG00000128271|helix|ENST00000337539|protein_coding|2/3|c.81G>A||||||,A|sequence_feature|LOW|ADORA2A|ENSG00000128271|transmembrane_region:Transmembrane_region|ENST00000337539|protein_coding|2/3|c.81G>A||||||,A|3_prime_UTR_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|19/20|n.*1216G>A|||||89920|,A|downstream_gene_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000467385|processed_transcript||n.*549G>A|||||293|,A|downstream_gene_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000486351|processed_transcript||n.*578G>A|||||277|,A|downstream_gene_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000464977|protein_coding||c.*558G>A|||||62|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000427813|antisense||n.*2027C>T|||||4791|,A|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000543438|antisense|4/6|n.575-1051C>T||||||,A|intron_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000496497|processed_transcript|1/1|n.100+5759G>A||||||,A|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000326341|antisense|4/6|n.560-1051C>T||||||,A|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|19/20|n.*1216G>A|||||| 22 24829521 . C T . . ANN=T|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000337539|protein_coding|2/3|c.149C>T|p.Ala50Val|608/2569|149/1239|50/412||,T|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000424232|protein_coding|2/2|c.149C>T|p.Ala50Val|455/569|149/263|50/86||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000486108|protein_coding|2/2|c.149C>T|p.Ala50Val|750/926|149/325|50/107||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000444262|protein_coding|2/3|c.149C>T|p.Ala50Val|571/1517|149/1095|50/364||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000496258|protein_coding|2/2|c.149C>T|p.Ala50Val|588/689|149/250|50/82||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000436735|protein_coding|2/2|c.149C>T|p.Ala50Val|625/669|149/193|50/63||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000439591|protein_coding|2/2|c.149C>T|p.Ala50Val|479/560|149/230|50/75||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|ADORA2A|ENSG00000128271|helix|ENST00000337539|protein_coding|2/3|c.149C>T||||||,T|sequence_feature|LOW|ADORA2A|ENSG00000128271|transmembrane_region:Transmembrane_region|ENST00000337539|protein_coding|2/3|c.149C>T||||||,T|3_prime_UTR_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|19/20|n.*1284C>T|||||89988|,T|downstream_gene_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000467385|processed_transcript||n.*549C>T|||||361|,T|downstream_gene_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000486351|processed_transcript||n.*578C>T|||||345|,T|downstream_gene_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000464977|protein_coding||c.*558C>T|||||130|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000472248|protein_coding||c.*718C>T|||||61|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000427813|antisense||n.*2027G>A|||||4723|,T|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000543438|antisense|4/6|n.575-1119G>A||||||,T|intron_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000496497|processed_transcript|1/1|n.100+5827C>T||||||,T|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000326341|antisense|4/6|n.560-1119G>A||||||,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|19/20|n.*1284C>T|||||| 22 24829597 . C T . . ANN=T|synonymous_variant|LOW|ADORA2A|ENSG00000128271|transcript|ENST00000337539|protein_coding|2/3|c.225C>T|p.His75His|684/2569|225/1239|75/412||,T|synonymous_variant|LOW|ADORA2A|ENSG00000128271|transcript|ENST00000424232|protein_coding|2/2|c.225C>T|p.His75His|531/569|225/263|75/86||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|ADORA2A|ENSG00000128271|transcript|ENST00000486108|protein_coding|2/2|c.225C>T|p.His75His|826/926|225/325|75/107||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|ADORA2A|ENSG00000128271|transcript|ENST00000444262|protein_coding|2/3|c.225C>T|p.His75His|647/1517|225/1095|75/364||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|ADORA2A|ENSG00000128271|transcript|ENST00000496258|protein_coding|2/2|c.225C>T|p.His75His|664/689|225/250|75/82||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|ADORA2A|ENSG00000128271|transcript|ENST00000439591|protein_coding|2/2|c.225C>T|p.His75His|555/560|225/230|75/75||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|ADORA2A|ENSG00000128271|topological_domain:Extracellular|ENST00000337539|protein_coding|2/3|c.225C>T||||||,T|sequence_feature|LOW|ADORA2A|ENSG00000128271|disulfide_bond|ENST00000337539|protein_coding|2/3|c.225C>T||||||,T|sequence_feature|LOW|ADORA2A|ENSG00000128271|disulfide_bond|ENST00000337539|protein_coding|3/3|c.225C>T||||||,T|sequence_feature|LOW|ADORA2A|ENSG00000128271|helix|ENST00000337539|protein_coding|2/3|c.225C>T||||||,T|3_prime_UTR_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|19/20|n.*1360C>T|||||90064|,T|downstream_gene_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000467385|processed_transcript||n.*549C>T|||||437|,T|downstream_gene_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000486351|processed_transcript||n.*578C>T|||||421|,T|downstream_gene_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000464977|protein_coding||c.*558C>T|||||206|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000472248|protein_coding||c.*718C>T|||||137|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000436735|protein_coding||c.*669C>T|||||32|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000427813|antisense||n.*2027G>A|||||4647|,T|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000543438|antisense|4/6|n.575-1195G>A||||||,T|intron_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000496497|processed_transcript|1/1|n.100+5903C>T||||||,T|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000326341|antisense|4/6|n.560-1195G>A||||||,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|19/20|n.*1360C>T|||||| 22 24836510 . C T . . ANN=T|sequence_feature|LOW|ADORA2A|ENSG00000128271|disulfide_bond|ENST00000337539|protein_coding|2/3|c.333-41C>T||||||,T|sequence_feature|LOW|ADORA2A|ENSG00000128271|disulfide_bond|ENST00000337539|protein_coding|3/3|c.333-41C>T||||||,T|sequence_feature|LOW|ADORA2A|ENSG00000128271|topological_domain:Cytoplasmic|ENST00000337539|protein_coding|2/3|c.333-41C>T||||||,T|sequence_feature|LOW|ADORA2A|ENSG00000128271|topological_domain:Cytoplasmic|ENST00000337539|protein_coding|3/3|c.333-41C>T||||||,T|sequence_feature|LOW|ADORA2A|ENSG00000128271|helix|ENST00000337539|protein_coding|2/3|c.333-41C>T||||||,T|sequence_feature|LOW|ADORA2A|ENSG00000128271|helix|ENST00000337539|protein_coding|3/3|c.333-41C>T||||||,T|intron_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|19/19|n.*1468-41C>T||||||,T|intron_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000337539|protein_coding|2/2|c.333-41C>T||||||,T|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000543438|antisense|4/6|n.574+1450G>A||||||,T|intron_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000444262|protein_coding|2/2|c.333-41C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000496497|processed_transcript|1/1|n.101-41C>T||||||,T|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000326341|antisense|4/6|n.559+1450G>A||||||,T|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000427813|antisense|6/7|n.1271-975G>A|||||| 22 24836650 . C T . . ANN=T|synonymous_variant|LOW|ADORA2A|ENSG00000128271|transcript|ENST00000337539|protein_coding|3/3|c.432C>T|p.Asn144Asn|891/2569|432/1239|144/412||,T|synonymous_variant|LOW|ADORA2A|ENSG00000128271|transcript|ENST00000444262|protein_coding|3/3|c.432C>T|p.Asn144Asn|854/1517|432/1095|144/364||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|ADORA2A|ENSG00000128271|disulfide_bond|ENST00000337539|protein_coding|2/3|c.432C>T||||||,T|sequence_feature|LOW|ADORA2A|ENSG00000128271|disulfide_bond|ENST00000337539|protein_coding|3/3|c.432C>T||||||,T|sequence_feature|LOW|ADORA2A|ENSG00000128271|topological_domain:Extracellular|ENST00000337539|protein_coding|3/3|c.432C>T||||||,T|3_prime_UTR_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|20/20|n.*1567C>T|||||97117|,T|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000543438|antisense|4/6|n.574+1310G>A||||||,T|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000326341|antisense|4/6|n.559+1310G>A||||||,T|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000427813|antisense|6/7|n.1271-1115G>A||||||,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|20/20|n.*1567C>T||||||,T|non_coding_exon_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000496497|processed_transcript|2/2|n.200C>T|||||| 22 24836657 . G A . . ANN=A|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000337539|protein_coding|3/3|c.439G>A|p.Gly147Ser|898/2569|439/1239|147/412||,A|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000444262|protein_coding|3/3|c.439G>A|p.Gly147Ser|861/1517|439/1095|147/364||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|ADORA2A|ENSG00000128271|disulfide_bond|ENST00000337539|protein_coding|2/3|c.439G>A||||||,A|sequence_feature|LOW|ADORA2A|ENSG00000128271|disulfide_bond|ENST00000337539|protein_coding|3/3|c.439G>A||||||,A|sequence_feature|LOW|ADORA2A|ENSG00000128271|topological_domain:Extracellular|ENST00000337539|protein_coding|3/3|c.439G>A||||||,A|sequence_feature|LOW|ADORA2A|ENSG00000128271|helix|ENST00000337539|protein_coding|3/3|c.439G>A||||||,A|3_prime_UTR_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|20/20|n.*1574G>A|||||97124|,A|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000543438|antisense|4/6|n.574+1303C>T||||||,A|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000326341|antisense|4/6|n.559+1303C>T||||||,A|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000427813|antisense|6/7|n.1271-1122C>T||||||,A|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|20/20|n.*1574G>A||||||,A|non_coding_exon_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000496497|processed_transcript|2/2|n.207G>A|||||| 22 24836665 . A G . . ANN=G|synonymous_variant|LOW|ADORA2A|ENSG00000128271|transcript|ENST00000337539|protein_coding|3/3|c.447A>G|p.Pro149Pro|906/2569|447/1239|149/412||,G|synonymous_variant|LOW|ADORA2A|ENSG00000128271|transcript|ENST00000444262|protein_coding|3/3|c.447A>G|p.Pro149Pro|869/1517|447/1095|149/364||WARNING_TRANSCRIPT_NO_STOP_CODON,G|sequence_feature|LOW|ADORA2A|ENSG00000128271|disulfide_bond|ENST00000337539|protein_coding|2/3|c.447A>G||||||,G|sequence_feature|LOW|ADORA2A|ENSG00000128271|disulfide_bond|ENST00000337539|protein_coding|3/3|c.447A>G||||||,G|sequence_feature|LOW|ADORA2A|ENSG00000128271|topological_domain:Extracellular|ENST00000337539|protein_coding|3/3|c.447A>G||||||,G|3_prime_UTR_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|20/20|n.*1582A>G|||||97132|,G|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000543438|antisense|4/6|n.574+1295T>C||||||,G|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000326341|antisense|4/6|n.559+1295T>C||||||,G|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000427813|antisense|6/7|n.1271-1130T>C||||||,G|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|20/20|n.*1582A>G||||||,G|non_coding_exon_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000496497|processed_transcript|2/2|n.215A>G|||||| 22 24836929 . C A . . ANN=A|synonymous_variant|LOW|ADORA2A|ENSG00000128271|transcript|ENST00000337539|protein_coding|3/3|c.711C>A|p.Ile237Ile|1170/2569|711/1239|237/412||,A|synonymous_variant|LOW|ADORA2A|ENSG00000128271|transcript|ENST00000444262|protein_coding|3/3|c.711C>A|p.Ile237Ile|1133/1517|711/1095|237/364||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|ADORA2A|ENSG00000128271|helix|ENST00000337539|protein_coding|3/3|c.711C>A||||||,A|sequence_feature|LOW|ADORA2A|ENSG00000128271|transmembrane_region:Transmembrane_region|ENST00000337539|protein_coding|3/3|c.711C>A||||||,A|3_prime_UTR_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|20/20|n.*1846C>A|||||97396|,A|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000543438|antisense|4/6|n.574+1031G>T||||||,A|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000326341|antisense|4/6|n.559+1031G>T||||||,A|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000427813|antisense|6/7|n.1270+1031G>T||||||,A|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|20/20|n.*1846C>A||||||,A|non_coding_exon_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000496497|processed_transcript|2/2|n.479C>A|||||| 22 24836998 . C T . . ANN=T|synonymous_variant|LOW|ADORA2A|ENSG00000128271|transcript|ENST00000337539|protein_coding|3/3|c.780C>T|p.Pro260Pro|1239/2569|780/1239|260/412||,T|synonymous_variant|LOW|ADORA2A|ENSG00000128271|transcript|ENST00000444262|protein_coding|3/3|c.780C>T|p.Pro260Pro|1202/1517|780/1095|260/364||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|ADORA2A|ENSG00000128271|disulfide_bond|ENST00000337539|protein_coding|3/3|c.780C>T||||||,T|sequence_feature|LOW|ADORA2A|ENSG00000128271|topological_domain:Extracellular|ENST00000337539|protein_coding|3/3|c.780C>T||||||,T|sequence_feature|LOW|ADORA2A|ENSG00000128271|beta_strand|ENST00000337539|protein_coding|3/3|c.780C>T||||||,T|3_prime_UTR_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|20/20|n.*1915C>T|||||97465|,T|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000543438|antisense|4/6|n.574+962G>A||||||,T|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000326341|antisense|4/6|n.559+962G>A||||||,T|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000427813|antisense|6/7|n.1270+962G>A||||||,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|20/20|n.*1915C>T||||||,T|non_coding_exon_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000496497|processed_transcript|2/2|n.548C>T|||||| 22 24837041 . G A . . ANN=A|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000337539|protein_coding|3/3|c.823G>A|p.Val275Ile|1282/2569|823/1239|275/412||,A|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000444262|protein_coding|3/3|c.823G>A|p.Val275Ile|1245/1517|823/1095|275/364||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|ADORA2A|ENSG00000128271|transmembrane_region:Transmembrane_region|ENST00000337539|protein_coding|3/3|c.823G>A||||||,A|sequence_feature|LOW|ADORA2A|ENSG00000128271|helix|ENST00000337539|protein_coding|3/3|c.823G>A||||||,A|3_prime_UTR_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|20/20|n.*1958G>A|||||97508|,A|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000543438|antisense|4/6|n.574+919C>T||||||,A|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000326341|antisense|4/6|n.559+919C>T||||||,A|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000427813|antisense|6/7|n.1270+919C>T||||||,A|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|20/20|n.*1958G>A||||||,A|non_coding_exon_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000496497|processed_transcript|2/2|n.591G>A|||||| 22 24837103 . C T . . ANN=T|synonymous_variant|LOW|ADORA2A|ENSG00000128271|transcript|ENST00000337539|protein_coding|3/3|c.885C>T|p.Phe295Phe|1344/2569|885/1239|295/412||,T|synonymous_variant|LOW|ADORA2A|ENSG00000128271|transcript|ENST00000444262|protein_coding|3/3|c.885C>T|p.Phe295Phe|1307/1517|885/1095|295/364||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|ADORA2A|ENSG00000128271|topological_domain:Cytoplasmic|ENST00000337539|protein_coding|3/3|c.885C>T||||||,T|sequence_feature|LOW|ADORA2A|ENSG00000128271|helix|ENST00000337539|protein_coding|3/3|c.885C>T||||||,T|3_prime_UTR_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|20/20|n.*2020C>T|||||97570|,T|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000543438|antisense|4/6|n.574+857G>A||||||,T|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000326341|antisense|4/6|n.559+857G>A||||||,T|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000427813|antisense|6/7|n.1270+857G>A||||||,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|20/20|n.*2020C>T||||||,T|non_coding_exon_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000496497|processed_transcript|2/2|n.653C>T|||||| 22 24837117 . G A . . ANN=A|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000337539|protein_coding|3/3|c.899G>A|p.Arg300His|1358/2569|899/1239|300/412||,A|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000444262|protein_coding|3/3|c.899G>A|p.Arg300His|1321/1517|899/1095|300/364||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|ADORA2A|ENSG00000128271|topological_domain:Cytoplasmic|ENST00000337539|protein_coding|3/3|c.899G>A||||||,A|sequence_feature|LOW|ADORA2A|ENSG00000128271|helix|ENST00000337539|protein_coding|3/3|c.899G>A||||||,A|3_prime_UTR_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|20/20|n.*2034G>A|||||97584|,A|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000543438|antisense|4/6|n.574+843C>T||||||,A|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000326341|antisense|4/6|n.559+843C>T||||||,A|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000427813|antisense|6/7|n.1270+843C>T||||||,A|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|20/20|n.*2034G>A||||||,A|non_coding_exon_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000496497|processed_transcript|2/2|n.667G>A|||||| 22 24837137 . G A . . ANN=A|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000337539|protein_coding|3/3|c.919G>A|p.Val307Ile|1378/2569|919/1239|307/412||,A|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000444262|protein_coding|3/3|c.919G>A|p.Val307Ile|1341/1517|919/1095|307/364||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|ADORA2A|ENSG00000128271|topological_domain:Cytoplasmic|ENST00000337539|protein_coding|3/3|c.919G>A||||||,A|3_prime_UTR_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|20/20|n.*2054G>A|||||97604|,A|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000543438|antisense|4/6|n.574+823C>T||||||,A|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000326341|antisense|4/6|n.559+823C>T||||||,A|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000427813|antisense|6/7|n.1270+823C>T||||||,A|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|20/20|n.*2054G>A||||||,A|non_coding_exon_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000496497|processed_transcript|2/2|n.687G>A|||||| 22 24837236 . G A . . ANN=A|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000337539|protein_coding|3/3|c.1018G>A|p.Gly340Ser|1477/2569|1018/1239|340/412||,A|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000444262|protein_coding|3/3|c.1018G>A|p.Gly340Ser|1440/1517|1018/1095|340/364||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|ADORA2A|ENSG00000128271|topological_domain:Cytoplasmic|ENST00000337539|protein_coding|3/3|c.1018G>A||||||,A|3_prime_UTR_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|20/20|n.*2153G>A|||||97703|,A|downstream_gene_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000496497|processed_transcript||n.*691G>A|||||95|,A|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000543438|antisense|4/6|n.574+724C>T||||||,A|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000326341|antisense|4/6|n.559+724C>T||||||,A|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000427813|antisense|6/7|n.1270+724C>T||||||,A|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|20/20|n.*2153G>A|||||| 22 24837243 . C T . . ANN=T|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000337539|protein_coding|3/3|c.1025C>T|p.Pro342Leu|1484/2569|1025/1239|342/412||,T|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000444262|protein_coding|3/3|c.1025C>T|p.Pro342Leu|1447/1517|1025/1095|342/364||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|ADORA2A|ENSG00000128271|topological_domain:Cytoplasmic|ENST00000337539|protein_coding|3/3|c.1025C>T||||||,T|3_prime_UTR_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|20/20|n.*2160C>T|||||97710|,T|downstream_gene_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000496497|processed_transcript||n.*691C>T|||||102|,T|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000543438|antisense|4/6|n.574+717G>A||||||,T|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000326341|antisense|4/6|n.559+717G>A||||||,T|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000427813|antisense|6/7|n.1270+717G>A||||||,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|20/20|n.*2160C>T|||||| 22 24837262 . C T . . ANN=T|synonymous_variant|LOW|ADORA2A|ENSG00000128271|transcript|ENST00000337539|protein_coding|3/3|c.1044C>T|p.Asn348Asn|1503/2569|1044/1239|348/412||,T|synonymous_variant|LOW|ADORA2A|ENSG00000128271|transcript|ENST00000444262|protein_coding|3/3|c.1044C>T|p.Asn348Asn|1466/1517|1044/1095|348/364||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|ADORA2A|ENSG00000128271|topological_domain:Cytoplasmic|ENST00000337539|protein_coding|3/3|c.1044C>T||||||,T|3_prime_UTR_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|20/20|n.*2179C>T|||||97729|,T|downstream_gene_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000496497|processed_transcript||n.*691C>T|||||121|,T|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000543438|antisense|4/6|n.574+698G>A||||||,T|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000326341|antisense|4/6|n.559+698G>A||||||,T|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000427813|antisense|6/7|n.1270+698G>A||||||,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|20/20|n.*2179C>T|||||| 22 24837301 . T C . . ANN=C|synonymous_variant|LOW|ADORA2A|ENSG00000128271|transcript|ENST00000337539|protein_coding|3/3|c.1083T>C|p.Tyr361Tyr|1542/2569|1083/1239|361/412||,C|synonymous_variant|LOW|ADORA2A|ENSG00000128271|transcript|ENST00000444262|protein_coding|3/3|c.1083T>C|p.Tyr361Tyr|1505/1517|1083/1095|361/364||WARNING_TRANSCRIPT_NO_STOP_CODON,C|sequence_feature|LOW|ADORA2A|ENSG00000128271|topological_domain:Cytoplasmic|ENST00000337539|protein_coding|3/3|c.1083T>C||||||,C|3_prime_UTR_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|20/20|n.*2218T>C|||||97768|,C|downstream_gene_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000496497|processed_transcript||n.*691T>C|||||160|,C|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000543438|antisense|4/6|n.574+659A>G||||||,C|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000326341|antisense|4/6|n.559+659A>G||||||,C|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000427813|antisense|6/7|n.1270+659A>G||||||,C|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|20/20|n.*2218T>C|||||| 22 24837325 . G C . . ANN=C|synonymous_variant|LOW|ADORA2A|ENSG00000128271|transcript|ENST00000337539|protein_coding|3/3|c.1107G>C|p.Gly369Gly|1566/2569|1107/1239|369/412||,C|sequence_feature|LOW|ADORA2A|ENSG00000128271|topological_domain:Cytoplasmic|ENST00000337539|protein_coding|3/3|c.1107G>C||||||,C|3_prime_UTR_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|20/20|n.*2242G>C|||||97792|,C|downstream_gene_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000444262|protein_coding||c.*1517G>C|||||12|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000496497|processed_transcript||n.*691G>C|||||184|,C|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000543438|antisense|4/6|n.574+635C>G||||||,C|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000326341|antisense|4/6|n.559+635C>G||||||,C|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000427813|antisense|6/7|n.1270+635C>G||||||,C|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|20/20|n.*2242G>C|||||| 22 24837364 . C T . . ANN=T|synonymous_variant|LOW|ADORA2A|ENSG00000128271|transcript|ENST00000337539|protein_coding|3/3|c.1146C>T|p.Asp382Asp|1605/2569|1146/1239|382/412||,T|sequence_feature|LOW|ADORA2A|ENSG00000128271|topological_domain:Cytoplasmic|ENST00000337539|protein_coding|3/3|c.1146C>T||||||,T|3_prime_UTR_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|20/20|n.*2281C>T|||||97831|,T|downstream_gene_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000444262|protein_coding||c.*1517C>T|||||51|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000496497|processed_transcript||n.*691C>T|||||223|,T|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000543438|antisense|4/6|n.574+596G>A||||||,T|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000326341|antisense|4/6|n.559+596G>A||||||,T|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000427813|antisense|6/7|n.1270+596G>A||||||,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|20/20|n.*2281C>T|||||| 22 24837424 . C A . . ANN=A|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000337539|protein_coding|3/3|c.1206C>A|p.Asp402Glu|1665/2569|1206/1239|402/412||,A|sequence_feature|LOW|ADORA2A|ENSG00000128271|topological_domain:Cytoplasmic|ENST00000337539|protein_coding|3/3|c.1206C>A||||||,A|3_prime_UTR_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|20/20|n.*2341C>A|||||97891|,A|downstream_gene_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000444262|protein_coding||c.*1517C>A|||||111|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000496497|processed_transcript||n.*691C>A|||||283|,A|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000543438|antisense|4/6|n.574+536G>T||||||,A|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000326341|antisense|4/6|n.559+536G>T||||||,A|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000427813|antisense|6/7|n.1270+536G>T||||||,A|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|20/20|n.*2341C>A|||||| 22 24837499 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|20/20|n.*2416T>C|||||97966|,C|3_prime_UTR_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000337539|protein_coding|3/3|c.*42T>C|||||42|,C|downstream_gene_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000444262|protein_coding||c.*1517T>C|||||186|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000496497|processed_transcript||n.*691T>C|||||358|,C|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000543438|antisense|4/6|n.574+461A>G||||||,C|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000326341|antisense|4/6|n.559+461A>G||||||,C|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000427813|antisense|6/7|n.1270+461A>G||||||,C|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|20/20|n.*2416T>C|||||| 22 24891355 . A T . . ANN=T|5_prime_UTR_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|1/10|c.-17A>T|||||17|,T|5_prime_UTR_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|2/10|c.-49A>T|||||49|,T|5_prime_UTR_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|1/9|n.-17A>T|||||17|,T|5_prime_UTR_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000382760|protein_coding|1/4|c.-17A>T|||||17|,T|upstream_gene_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000543438|antisense||n.-1T>A|||||572|,T|upstream_gene_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000326341|antisense||n.-1T>A|||||587|,T|upstream_gene_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000427813|antisense||n.-1T>A|||||313|,T|upstream_gene_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000412790|antisense||n.-1T>A|||||592|,T|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|1/9|n.-17A>T|||||| 22 24891370 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|1/10|c.-2C>T|||||2|,T|5_prime_UTR_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|2/10|c.-34C>T|||||34|,T|5_prime_UTR_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|1/9|n.-2C>T|||||2|,T|5_prime_UTR_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000382760|protein_coding|1/4|c.-2C>T|||||2|,T|upstream_gene_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000543438|antisense||n.-1G>A|||||587|,T|upstream_gene_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000326341|antisense||n.-1G>A|||||602|,T|upstream_gene_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000427813|antisense||n.-1G>A|||||328|,T|upstream_gene_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000412790|antisense||n.-1G>A|||||607|,T|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|1/9|n.-2C>T|||||| 22 24891380 . C T . . ANN=T|synonymous_variant|LOW|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|1/10|c.9C>T|p.Gly3Gly|353/2290|9/1155|3/384||,T|synonymous_variant|LOW|UPB1|ENSG00000100024|transcript|ENST00000382760|protein_coding|1/4|c.9C>T|p.Gly3Gly|171/1928|9/561|3/186||,T|5_prime_UTR_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|2/10|c.-24C>T|||||24|,T|upstream_gene_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000543438|antisense||n.-1G>A|||||597|,T|upstream_gene_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000326341|antisense||n.-1G>A|||||612|,T|upstream_gene_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000427813|antisense||n.-1G>A|||||338|,T|upstream_gene_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000412790|antisense||n.-1G>A|||||617|,T|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|1/9|n.9C>T|||||| 22 24891453 . G A . . ANN=A|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|1/10|c.82G>A|p.Val28Ile|426/2290|82/1155|28/384||,A|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|2/10|c.50G>A|p.Arg17His|1643/3418|50/951|17/316||,A|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000382760|protein_coding|1/4|c.82G>A|p.Val28Ile|244/1928|82/561|28/186||,A|upstream_gene_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000543438|antisense||n.-1C>T|||||670|,A|upstream_gene_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000326341|antisense||n.-1C>T|||||685|,A|upstream_gene_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000427813|antisense||n.-1C>T|||||411|,A|upstream_gene_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000412790|antisense||n.-1C>T|||||690|,A|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|1/9|n.82G>A|||||| 22 24891462 . G A . . ANN=A|stop_gained|HIGH|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|2/10|c.59G>A|p.Trp20*|1652/3418|59/951|20/316||,A|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|1/10|c.91G>A|p.Gly31Ser|435/2290|91/1155|31/384||,A|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000382760|protein_coding|1/4|c.91G>A|p.Gly31Ser|253/1928|91/561|31/186||,A|upstream_gene_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000543438|antisense||n.-1C>T|||||679|,A|upstream_gene_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000326341|antisense||n.-1C>T|||||694|,A|upstream_gene_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000427813|antisense||n.-1C>T|||||420|,A|upstream_gene_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000412790|antisense||n.-1C>T|||||699|,A|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|1/9|n.91G>A||||||;LOF=(UPB1|ENSG00000100024|6|0.17);NMD=(UPB1|ENSG00000100024|6|0.17) 22 24896044 . T C . . ANN=C|intron_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|1/9|c.105-31T>C||||||,C|intron_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|2/9|c.73-2050T>C||||||,C|intron_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|1/8|n.105-2050T>C||||||,C|intron_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000382760|protein_coding|1/3|c.105-31T>C|||||| 22 24896068 . C G . . ANN=G|splice_region_variant&intron_variant|LOW|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|1/9|c.105-7C>G||||||,G|splice_region_variant&intron_variant|LOW|UPB1|ENSG00000100024|transcript|ENST00000382760|protein_coding|1/3|c.105-7C>G||||||,G|intron_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|2/9|c.73-2026C>G||||||,G|intron_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|1/8|n.105-2026C>G|||||| 22 24896069 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|1/9|c.105-6A>G||||||,G|splice_region_variant&intron_variant|LOW|UPB1|ENSG00000100024|transcript|ENST00000382760|protein_coding|1/3|c.105-6A>G||||||,G|intron_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|2/9|c.73-2025A>G||||||,G|intron_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|1/8|n.105-2025A>G|||||| 22 24896158 . A T . . ANN=T|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|2/10|c.188A>T|p.Glu63Val|532/2290|188/1155|63/384||,T|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000382760|protein_coding|2/4|c.188A>T|p.Glu63Val|350/1928|188/561|63/186||,T|intron_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|2/9|c.73-1936A>T||||||,T|intron_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|1/8|n.105-1936A>T|||||| 22 24896179 . G C . . ANN=C|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|2/10|c.209G>C|p.Arg70Pro|553/2290|209/1155|70/384||,C|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000382760|protein_coding|2/4|c.209G>C|p.Arg70Pro|371/1928|209/561|70/186||,C|intron_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|2/9|c.73-1915G>C||||||,C|intron_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|1/8|n.105-1915G>C|||||| 22 24896224 . C A . . ANN=A|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|2/10|c.254C>A|p.Ala85Glu|598/2290|254/1155|85/384||,A|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000382760|protein_coding|2/4|c.254C>A|p.Ala85Glu|416/1928|254/561|85/186||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|2/10|c.254C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|4/10|c.254C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|9/10|c.254C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|6/10|c.254C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|3/10|c.254C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|5/10|c.254C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|8/10|c.254C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|10/10|c.254C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|7/10|c.254C>A||||||,A|intron_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|2/9|c.73-1870C>A||||||,A|intron_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|1/8|n.105-1870C>A|||||| 22 24898056 . T A . . ANN=A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|2/10|c.277-38T>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|4/10|c.277-38T>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|9/10|c.277-38T>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|6/10|c.277-38T>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|3/10|c.277-38T>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|5/10|c.277-38T>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|8/10|c.277-38T>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|10/10|c.277-38T>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|7/10|c.277-38T>A||||||,A|intron_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|2/9|c.277-38T>A||||||,A|intron_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|2/9|c.73-38T>A||||||,A|intron_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|1/8|n.105-38T>A||||||,A|intron_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000382760|protein_coding|2/3|c.277-38T>A|||||| 22 24898063 . A C . . ANN=C|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|2/10|c.277-31A>C||||||,C|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|4/10|c.277-31A>C||||||,C|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|9/10|c.277-31A>C||||||,C|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|6/10|c.277-31A>C||||||,C|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|3/10|c.277-31A>C||||||,C|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|5/10|c.277-31A>C||||||,C|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|8/10|c.277-31A>C||||||,C|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|10/10|c.277-31A>C||||||,C|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|7/10|c.277-31A>C||||||,C|intron_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|2/9|c.277-31A>C||||||,C|intron_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|2/9|c.73-31A>C||||||,C|intron_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|1/8|n.105-31A>C||||||,C|intron_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000382760|protein_coding|2/3|c.277-31A>C|||||| 22 24898092 . A G . . ANN=G|splice_acceptor_variant&intron_variant|HIGH|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|2/9|c.277-2A>G||||||,G|splice_acceptor_variant&intron_variant|HIGH|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|2/9|c.73-2A>G||||||,G|splice_acceptor_variant&intron_variant|HIGH|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|1/8|n.105-2A>G||||||,G|splice_acceptor_variant&intron_variant|HIGH|UPB1|ENSG00000100024|transcript|ENST00000382760|protein_coding|2/3|c.277-2A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|2/10|c.277-2A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|4/10|c.277-2A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|9/10|c.277-2A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|6/10|c.277-2A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|3/10|c.277-2A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|5/10|c.277-2A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|8/10|c.277-2A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|10/10|c.277-2A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|7/10|c.277-2A>G||||||;LOF=(UPB1|ENSG00000100024|6|0.50) 22 24898175 . G T . . ANN=T|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|3/10|c.358G>T|p.Ala120Ser|702/2290|358/1155|120/384||,T|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|3/10|c.154G>T|p.Ala52Ser|1747/3418|154/951|52/316||,T|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000382760|protein_coding|3/4|c.358G>T|p.Ala120Ser|520/1928|358/561|120/186||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|2/10|c.358G>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|4/10|c.358G>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|9/10|c.358G>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|6/10|c.358G>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|3/10|c.358G>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|5/10|c.358G>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|8/10|c.358G>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|10/10|c.358G>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|7/10|c.358G>T||||||,T|3_prime_UTR_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|2/9|n.*57G>T|||||57|,T|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|2/9|n.*57G>T|||||| 22 24906668 . CAG C . . ANN=|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|2/10|c.365-48_365-47delAG||||||,|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|4/10|c.365-48_365-47delAG||||||,|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|9/10|c.365-48_365-47delAG||||||,|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|6/10|c.365-48_365-47delAG||||||,|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|3/10|c.365-48_365-47delAG||||||,|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|5/10|c.365-48_365-47delAG||||||,|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|8/10|c.365-48_365-47delAG||||||,|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|10/10|c.365-48_365-47delAG||||||,|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|7/10|c.365-48_365-47delAG||||||,|intron_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|3/9|c.365-46_365-45delAG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|3/9|c.161-46_161-45delAG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|2/8|n.*64-46_*64-45delAG||||||INFO_REALIGN_3_PRIME 22 24906689 . A G . . ANN=G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|2/10|c.365-28A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|4/10|c.365-28A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|9/10|c.365-28A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|6/10|c.365-28A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|3/10|c.365-28A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|5/10|c.365-28A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|8/10|c.365-28A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|10/10|c.365-28A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|7/10|c.365-28A>G||||||,G|intron_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|3/9|c.365-28A>G||||||,G|intron_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|3/9|c.161-28A>G||||||,G|intron_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|2/8|n.*64-28A>G|||||| 22 24906723 . C A . . ANN=A|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|4/10|c.371C>A|p.Pro124His|715/2290|371/1155|124/384||,A|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|4/10|c.167C>A|p.Pro56His|1760/3418|167/951|56/316||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|2/10|c.371C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|4/10|c.371C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|9/10|c.371C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|6/10|c.371C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|3/10|c.371C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|5/10|c.371C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|8/10|c.371C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|10/10|c.371C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|7/10|c.371C>A||||||,A|3_prime_UTR_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|3/9|n.*70C>A|||||8605|,A|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|3/9|n.*70C>A|||||| 22 24909316 . G GT . . ANN=T|frameshift_variant|HIGH|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|5/10|c.485dupT|p.Val163fs|830/2290|486/1155|162/384||INFO_REALIGN_3_PRIME,T|frameshift_variant|HIGH|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|5/10|c.281dupT|p.Val95fs|1875/3418|282/951|94/316||INFO_REALIGN_3_PRIME,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|2/10|c.484_485insT||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|4/10|c.484_485insT||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|9/10|c.484_485insT||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|6/10|c.484_485insT||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|3/10|c.484_485insT||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|5/10|c.484_485insT||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|8/10|c.484_485insT||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|10/10|c.484_485insT||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|7/10|c.484_485insT||||||,T|3_prime_UTR_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|4/9|n.*184dupT|||||11200|INFO_REALIGN_3_PRIME,T|upstream_gene_variant|MODIFIER|AP000355.2|ENSG00000228923|transcript|ENST00000432032|antisense||n.-1_-1insT|||||3159|,T|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|4/9|n.*184dupT||||||INFO_REALIGN_3_PRIME;LOF=(UPB1|ENSG00000100024|6|0.33) 22 24909346 . G A . . ANN=A|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|5/10|c.514G>A|p.Glu172Lys|858/2290|514/1155|172/384||,A|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|5/10|c.310G>A|p.Glu104Lys|1903/3418|310/951|104/316||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|2/10|c.514G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|4/10|c.514G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|9/10|c.514G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|6/10|c.514G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|3/10|c.514G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|5/10|c.514G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|8/10|c.514G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|10/10|c.514G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|7/10|c.514G>A||||||,A|3_prime_UTR_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|4/9|n.*213G>A|||||11228|,A|upstream_gene_variant|MODIFIER|AP000355.2|ENSG00000228923|transcript|ENST00000432032|antisense||n.-1G>A|||||3130|,A|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|4/9|n.*213G>A|||||| 22 24909465 . A G . . ANN=G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|2/10|c.621+12A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|4/10|c.621+12A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|9/10|c.621+12A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|6/10|c.621+12A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|3/10|c.621+12A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|5/10|c.621+12A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|8/10|c.621+12A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|10/10|c.621+12A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|7/10|c.621+12A>G||||||,G|upstream_gene_variant|MODIFIER|AP000355.2|ENSG00000228923|transcript|ENST00000432032|antisense||n.-1A>G|||||3011|,G|intron_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|5/9|c.621+12A>G||||||,G|intron_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|5/9|c.417+12A>G||||||,G|intron_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|4/8|n.*320+12A>G|||||| 22 24911233 . C A . . ANN=A|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|6/10|c.686C>A|p.Ala229Glu|1030/2290|686/1155|229/384||,A|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|6/10|c.482C>A|p.Ala161Glu|2075/3418|482/951|161/316||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|2/10|c.686C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|4/10|c.686C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|9/10|c.686C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|6/10|c.686C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|3/10|c.686C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|5/10|c.686C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|8/10|c.686C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|10/10|c.686C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|7/10|c.686C>A||||||,A|3_prime_UTR_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|5/9|n.*385C>A|||||13115|,A|upstream_gene_variant|MODIFIER|AP000355.2|ENSG00000228923|transcript|ENST00000432032|antisense||n.-1C>A|||||1243|,A|upstream_gene_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000498140|processed_transcript||n.-1C>A|||||4536|,A|upstream_gene_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000486043|retained_intron||n.-1C>A|||||4909|,A|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|5/9|n.*385C>A|||||| 22 24911249 . C T . . ANN=T|synonymous_variant|LOW|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|6/10|c.702C>T|p.Tyr234Tyr|1046/2290|702/1155|234/384||,T|synonymous_variant|LOW|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|6/10|c.498C>T|p.Tyr166Tyr|2091/3418|498/951|166/316||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|2/10|c.702C>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|4/10|c.702C>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|9/10|c.702C>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|6/10|c.702C>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|3/10|c.702C>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|5/10|c.702C>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|8/10|c.702C>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|10/10|c.702C>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|7/10|c.702C>T||||||,T|3_prime_UTR_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|5/9|n.*401C>T|||||13131|,T|upstream_gene_variant|MODIFIER|AP000355.2|ENSG00000228923|transcript|ENST00000432032|antisense||n.-1C>T|||||1227|,T|upstream_gene_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000498140|processed_transcript||n.-1C>T|||||4520|,T|upstream_gene_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000486043|retained_intron||n.-1C>T|||||4893|,T|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|5/9|n.*401C>T|||||| 22 24911253 . C T . . ANN=T|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|6/10|c.706C>T|p.Arg236Trp|1050/2290|706/1155|236/384||,T|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|6/10|c.502C>T|p.Arg168Trp|2095/3418|502/951|168/316||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|2/10|c.706C>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|4/10|c.706C>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|9/10|c.706C>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|6/10|c.706C>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|3/10|c.706C>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|5/10|c.706C>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|8/10|c.706C>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|10/10|c.706C>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|7/10|c.706C>T||||||,T|3_prime_UTR_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|5/9|n.*405C>T|||||13135|,T|upstream_gene_variant|MODIFIER|AP000355.2|ENSG00000228923|transcript|ENST00000432032|antisense||n.-1C>T|||||1223|,T|upstream_gene_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000498140|processed_transcript||n.-1C>T|||||4516|,T|upstream_gene_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000486043|retained_intron||n.-1C>T|||||4889|,T|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|5/9|n.*405C>T|||||| 22 24911294 . GGC G . . ANN=|frameshift_variant|HIGH|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|6/10|c.748_749delGC|p.Ala250fs|1092/2290|748/1155|250/384||,|frameshift_variant|HIGH|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|6/10|c.544_545delGC|p.Ala182fs|2137/3418|544/951|182/316||,|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|2/10|c.748_749delGC||||||,|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|4/10|c.748_749delGC||||||,|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|9/10|c.748_749delGC||||||,|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|6/10|c.748_749delGC||||||,|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|3/10|c.748_749delGC||||||,|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|5/10|c.748_749delGC||||||,|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|8/10|c.748_749delGC||||||,|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|10/10|c.748_749delGC||||||,|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|7/10|c.748_749delGC||||||,|3_prime_UTR_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|5/9|n.*447_*448delGC|||||13177|,|upstream_gene_variant|MODIFIER|AP000355.2|ENSG00000228923|transcript|ENST00000432032|antisense||n.-1_-1delGC|||||1181|,|upstream_gene_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000498140|processed_transcript||n.-1_-1delGC|||||4474|,|upstream_gene_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000486043|retained_intron||n.-1_-1delGC|||||4847|,|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|5/9|n.*447_*448delGC||||||;LOF=(UPB1|ENSG00000100024|6|0.33) 22 24911318 . G A . . ANN=A|synonymous_variant|LOW|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|6/10|c.771G>A|p.Ser257Ser|1115/2290|771/1155|257/384||,A|synonymous_variant|LOW|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|6/10|c.567G>A|p.Ser189Ser|2160/3418|567/951|189/316||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|2/10|c.771G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|4/10|c.771G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|9/10|c.771G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|6/10|c.771G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|3/10|c.771G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|5/10|c.771G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|8/10|c.771G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|10/10|c.771G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|7/10|c.771G>A||||||,A|3_prime_UTR_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|5/9|n.*470G>A|||||13200|,A|upstream_gene_variant|MODIFIER|AP000355.2|ENSG00000228923|transcript|ENST00000432032|antisense||n.-1G>A|||||1158|,A|upstream_gene_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000498140|processed_transcript||n.-1G>A|||||4451|,A|upstream_gene_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000486043|retained_intron||n.-1G>A|||||4824|,A|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|5/9|n.*470G>A|||||| 22 24916355 . C A . . ANN=A|missense_variant&splice_region_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|7/10|c.792C>A|p.Ser264Arg|1136/2290|792/1155|264/384||,A|missense_variant&splice_region_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|7/10|c.588C>A|p.Ser196Arg|2181/3418|588/951|196/316||,A|splice_region_variant&non_coding_exon_variant|LOW|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|6/9|n.*491C>A||||||,A|splice_region_variant&non_coding_exon_variant|LOW|UPB1|ENSG00000100024|transcript|ENST00000498140|processed_transcript|2/4|n.131C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|2/10|c.792C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|4/10|c.792C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|9/10|c.792C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|6/10|c.792C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|3/10|c.792C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|5/10|c.792C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|8/10|c.792C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|10/10|c.792C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|7/10|c.792C>A||||||,A|3_prime_UTR_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|6/9|n.*491C>A|||||18237|,A|downstream_gene_variant|MODIFIER|AP000355.2|ENSG00000228923|transcript|ENST00000432032|antisense||n.*480C>A|||||2001|,A|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000486043|retained_intron|1/3|n.214C>A|||||| 22 24916373 . C T . . ANN=T|synonymous_variant|LOW|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|7/10|c.810C>T|p.Ile270Ile|1154/2290|810/1155|270/384||,T|synonymous_variant|LOW|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|7/10|c.606C>T|p.Ile202Ile|2199/3418|606/951|202/316||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|2/10|c.810C>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|4/10|c.810C>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|9/10|c.810C>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|6/10|c.810C>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|3/10|c.810C>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|5/10|c.810C>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|8/10|c.810C>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|10/10|c.810C>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|7/10|c.810C>T||||||,T|3_prime_UTR_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|6/9|n.*509C>T|||||18255|,T|downstream_gene_variant|MODIFIER|AP000355.2|ENSG00000228923|transcript|ENST00000432032|antisense||n.*480C>T|||||2019|,T|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|6/9|n.*509C>T||||||,T|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000498140|processed_transcript|2/4|n.149C>T||||||,T|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000486043|retained_intron|1/3|n.232C>T|||||| 22 24916385 . C T . . ANN=T|synonymous_variant|LOW|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|7/10|c.822C>T|p.Asn274Asn|1166/2290|822/1155|274/384||,T|synonymous_variant|LOW|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|7/10|c.618C>T|p.Asn206Asn|2211/3418|618/951|206/316||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|2/10|c.822C>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|4/10|c.822C>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|9/10|c.822C>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|6/10|c.822C>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|3/10|c.822C>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|5/10|c.822C>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|8/10|c.822C>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|10/10|c.822C>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|7/10|c.822C>T||||||,T|3_prime_UTR_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|6/9|n.*521C>T|||||18267|,T|downstream_gene_variant|MODIFIER|AP000355.2|ENSG00000228923|transcript|ENST00000432032|antisense||n.*480C>T|||||2031|,T|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|6/9|n.*521C>T||||||,T|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000498140|processed_transcript|2/4|n.161C>T||||||,T|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000486043|retained_intron|1/3|n.244C>T|||||| 22 24916409 . C T . . ANN=T|synonymous_variant|LOW|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|7/10|c.846C>T|p.Phe282Phe|1190/2290|846/1155|282/384||,T|synonymous_variant|LOW|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|7/10|c.642C>T|p.Phe214Phe|2235/3418|642/951|214/316||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|2/10|c.846C>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|4/10|c.846C>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|9/10|c.846C>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|6/10|c.846C>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|3/10|c.846C>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|5/10|c.846C>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|8/10|c.846C>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|10/10|c.846C>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|7/10|c.846C>T||||||,T|3_prime_UTR_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|6/9|n.*545C>T|||||18291|,T|downstream_gene_variant|MODIFIER|AP000355.2|ENSG00000228923|transcript|ENST00000432032|antisense||n.*480C>T|||||2055|,T|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|6/9|n.*545C>T||||||,T|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000498140|processed_transcript|2/4|n.185C>T||||||,T|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000486043|retained_intron|1/3|n.268C>T|||||| 22 24916420 . T C . . ANN=C|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|7/10|c.857T>C|p.Ile286Thr|1201/2290|857/1155|286/384||,C|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|7/10|c.653T>C|p.Ile218Thr|2246/3418|653/951|218/316||,C|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|2/10|c.857T>C||||||,C|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|4/10|c.857T>C||||||,C|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|9/10|c.857T>C||||||,C|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|6/10|c.857T>C||||||,C|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|3/10|c.857T>C||||||,C|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|5/10|c.857T>C||||||,C|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|8/10|c.857T>C||||||,C|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|10/10|c.857T>C||||||,C|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|7/10|c.857T>C||||||,C|3_prime_UTR_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|6/9|n.*556T>C|||||18302|,C|downstream_gene_variant|MODIFIER|AP000355.2|ENSG00000228923|transcript|ENST00000432032|antisense||n.*480T>C|||||2066|,C|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|6/9|n.*556T>C||||||,C|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000498140|processed_transcript|2/4|n.196T>C||||||,C|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000486043|retained_intron|1/3|n.279T>C|||||| 22 24916426 . G A . . ANN=A|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|7/10|c.863G>A|p.Arg288Gln|1207/2290|863/1155|288/384||,A|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|7/10|c.659G>A|p.Arg220Gln|2252/3418|659/951|220/316||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|2/10|c.863G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|4/10|c.863G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|9/10|c.863G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|6/10|c.863G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|3/10|c.863G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|5/10|c.863G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|8/10|c.863G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|10/10|c.863G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|7/10|c.863G>A||||||,A|3_prime_UTR_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|6/9|n.*562G>A|||||18308|,A|downstream_gene_variant|MODIFIER|AP000355.2|ENSG00000228923|transcript|ENST00000432032|antisense||n.*480G>A|||||2072|,A|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|6/9|n.*562G>A||||||,A|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000498140|processed_transcript|2/4|n.202G>A||||||,A|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000486043|retained_intron|1/3|n.285G>A|||||| 22 24916438 . T A . . ANN=A|splice_donor_variant&intron_variant|HIGH|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|7/9|c.873+2T>A||||||,A|splice_donor_variant&intron_variant|HIGH|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|7/9|c.669+2T>A||||||,A|splice_donor_variant&intron_variant|HIGH|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|6/8|n.*572+2T>A||||||,A|splice_donor_variant&intron_variant|HIGH|UPB1|ENSG00000100024|transcript|ENST00000498140|processed_transcript|2/3|n.212+2T>A||||||,A|splice_donor_variant&intron_variant|HIGH|UPB1|ENSG00000100024|transcript|ENST00000486043|retained_intron|1/2|n.295+2T>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|2/10|c.873+2T>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|4/10|c.873+2T>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|9/10|c.873+2T>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|6/10|c.873+2T>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|3/10|c.873+2T>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|5/10|c.873+2T>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|8/10|c.873+2T>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|10/10|c.873+2T>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|7/10|c.873+2T>A||||||,A|downstream_gene_variant|MODIFIER|AP000355.2|ENSG00000228923|transcript|ENST00000432032|antisense||n.*480T>A|||||2084|;LOF=(UPB1|ENSG00000100024|6|0.33) 22 24916445 . C T . . ANN=T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|2/10|c.873+9C>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|4/10|c.873+9C>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|9/10|c.873+9C>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|6/10|c.873+9C>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|3/10|c.873+9C>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|5/10|c.873+9C>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|8/10|c.873+9C>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|10/10|c.873+9C>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|7/10|c.873+9C>T||||||,T|downstream_gene_variant|MODIFIER|AP000355.2|ENSG00000228923|transcript|ENST00000432032|antisense||n.*480C>T|||||2091|,T|intron_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|7/9|c.873+9C>T||||||,T|intron_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|7/9|c.669+9C>T||||||,T|intron_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|6/8|n.*572+9C>T||||||,T|intron_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000498140|processed_transcript|2/3|n.212+9C>T||||||,T|intron_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000486043|retained_intron|1/2|n.295+9C>T|||||| 22 24917944 . T TA . . ANN=A|splice_region_variant&intron_variant|LOW|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|7/9|c.874-9dupA||||||INFO_REALIGN_3_PRIME,A|splice_region_variant&intron_variant|LOW|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|7/9|c.670-9dupA||||||INFO_REALIGN_3_PRIME,A|splice_region_variant&intron_variant|LOW|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|6/8|n.*573-9dupA||||||INFO_REALIGN_3_PRIME,A|splice_region_variant&intron_variant|LOW|UPB1|ENSG00000100024|transcript|ENST00000486043|retained_intron|1/2|n.296-9dupA||||||INFO_REALIGN_3_PRIME,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|2/10|c.874-10_874-9insA||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|4/10|c.874-10_874-9insA||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|9/10|c.874-10_874-9insA||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|6/10|c.874-10_874-9insA||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|3/10|c.874-10_874-9insA||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|5/10|c.874-10_874-9insA||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|8/10|c.874-10_874-9insA||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|10/10|c.874-10_874-9insA||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|7/10|c.874-10_874-9insA||||||,A|downstream_gene_variant|MODIFIER|AP000355.2|ENSG00000228923|transcript|ENST00000432032|antisense||n.*480_*480insA|||||3591|,A|intron_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000498140|processed_transcript|2/3|n.212+1509dupA||||||INFO_REALIGN_3_PRIME 22 24917983 . A G . . ANN=G|synonymous_variant|LOW|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|8/10|c.903A>G|p.Gly301Gly|1247/2290|903/1155|301/384||,G|synonymous_variant|LOW|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|8/10|c.699A>G|p.Gly233Gly|2292/3418|699/951|233/316||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|2/10|c.903A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|4/10|c.903A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|9/10|c.903A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|6/10|c.903A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|3/10|c.903A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|5/10|c.903A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|8/10|c.903A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|10/10|c.903A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|7/10|c.903A>G||||||,G|3_prime_UTR_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|7/9|n.*602A>G|||||19865|,G|downstream_gene_variant|MODIFIER|AP000355.2|ENSG00000228923|transcript|ENST00000432032|antisense||n.*480A>G|||||3629|,G|intron_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000498140|processed_transcript|2/3|n.212+1547A>G||||||,G|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|7/9|n.*602A>G||||||,G|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000486043|retained_intron|2/3|n.325A>G|||||| 22 24919586 . G A . . ANN=A|splice_acceptor_variant&intron_variant|HIGH|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|8/9|c.917-1G>A||||||,A|splice_acceptor_variant&intron_variant|HIGH|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|8/9|c.713-1G>A||||||,A|splice_acceptor_variant&intron_variant|HIGH|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|7/8|n.*616-1G>A||||||,A|splice_acceptor_variant&intron_variant|HIGH|UPB1|ENSG00000100024|transcript|ENST00000498140|processed_transcript|2/3|n.213-1G>A||||||,A|splice_acceptor_variant&intron_variant|HIGH|UPB1|ENSG00000100024|transcript|ENST00000486043|retained_intron|2/2|n.339-1G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|2/10|c.917-1G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|4/10|c.917-1G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|9/10|c.917-1G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|6/10|c.917-1G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|3/10|c.917-1G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|5/10|c.917-1G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|8/10|c.917-1G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|10/10|c.917-1G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|7/10|c.917-1G>A||||||;LOF=(UPB1|ENSG00000100024|6|0.33) 22 24919590 . A G . . ANN=G|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|9/10|c.920A>G|p.His307Arg|1264/2290|920/1155|307/384||,G|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|9/10|c.716A>G|p.His239Arg|2309/3418|716/951|239/316||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|2/10|c.920A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|4/10|c.920A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|9/10|c.920A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|6/10|c.920A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|3/10|c.920A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|5/10|c.920A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|8/10|c.920A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|10/10|c.920A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|7/10|c.920A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|metal_ion-binding_site:Zinc|ENST00000326010|protein_coding|9/10|c.920A>G||||||,G|3_prime_UTR_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|8/9|n.*619A>G|||||21472|,G|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|8/9|n.*619A>G||||||,G|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000498140|processed_transcript|3/4|n.216A>G||||||,G|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000486043|retained_intron|3/3|n.342A>G|||||| 22 24919611 . A G . . ANN=G|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|9/10|c.941A>G|p.Tyr314Cys|1285/2290|941/1155|314/384||,G|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|9/10|c.737A>G|p.Tyr246Cys|2330/3418|737/951|246/316||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|2/10|c.941A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|4/10|c.941A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|9/10|c.941A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|6/10|c.941A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|3/10|c.941A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|5/10|c.941A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|8/10|c.941A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|10/10|c.941A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|7/10|c.941A>G||||||,G|3_prime_UTR_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|8/9|n.*640A>G|||||21493|,G|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|8/9|n.*640A>G||||||,G|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000498140|processed_transcript|3/4|n.237A>G||||||,G|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000486043|retained_intron|3/3|n.363A>G|||||| 22 24919627 . G A . . ANN=A|synonymous_variant|LOW|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|9/10|c.957G>A|p.Val319Val|1301/2290|957/1155|319/384||,A|synonymous_variant|LOW|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|9/10|c.753G>A|p.Val251Val|2346/3418|753/951|251/316||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|2/10|c.957G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|4/10|c.957G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|9/10|c.957G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|6/10|c.957G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|3/10|c.957G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|5/10|c.957G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|8/10|c.957G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|10/10|c.957G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|7/10|c.957G>A||||||,A|3_prime_UTR_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|8/9|n.*656G>A|||||21509|,A|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|8/9|n.*656G>A||||||,A|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000498140|processed_transcript|3/4|n.253G>A||||||,A|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000486043|retained_intron|3/3|n.379G>A|||||| 22 24919646 . C A . . ANN=A|synonymous_variant|LOW|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|9/10|c.976C>A|p.Arg326Arg|1320/2290|976/1155|326/384||,A|synonymous_variant|LOW|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|9/10|c.772C>A|p.Arg258Arg|2365/3418|772/951|258/316||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|2/10|c.976C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|4/10|c.976C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|9/10|c.976C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|6/10|c.976C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|3/10|c.976C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|5/10|c.976C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|8/10|c.976C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|10/10|c.976C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|7/10|c.976C>A||||||,A|3_prime_UTR_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|8/9|n.*675C>A|||||21528|,A|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|8/9|n.*675C>A||||||,A|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000498140|processed_transcript|3/4|n.272C>A||||||,A|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000486043|retained_intron|3/3|n.398C>A|||||| 22 24919647 . G A . . ANN=A|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|9/10|c.977G>A|p.Arg326Gln|1321/2290|977/1155|326/384||,A|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|9/10|c.773G>A|p.Arg258Gln|2366/3418|773/951|258/316||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|2/10|c.977G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|4/10|c.977G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|9/10|c.977G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|6/10|c.977G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|3/10|c.977G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|5/10|c.977G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|8/10|c.977G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|10/10|c.977G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|7/10|c.977G>A||||||,A|3_prime_UTR_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|8/9|n.*676G>A|||||21529|,A|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|8/9|n.*676G>A||||||,A|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000498140|processed_transcript|3/4|n.273G>A||||||,A|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000486043|retained_intron|3/3|n.399G>A|||||| 22 24919675 . T G . . ANN=G|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|9/10|c.1005T>G|p.Asp335Glu|1349/2290|1005/1155|335/384||,G|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|9/10|c.801T>G|p.Asp267Glu|2394/3418|801/951|267/316||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|2/10|c.1005T>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|4/10|c.1005T>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|9/10|c.1005T>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|6/10|c.1005T>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|3/10|c.1005T>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|5/10|c.1005T>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|8/10|c.1005T>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|10/10|c.1005T>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|7/10|c.1005T>G||||||,G|3_prime_UTR_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|8/9|n.*704T>G|||||21557|,G|downstream_gene_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000486043|retained_intron||n.*420T>G|||||7|,G|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|8/9|n.*704T>G||||||,G|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000498140|processed_transcript|3/4|n.301T>G|||||| 22 24921693 . T C . . ANN=C|synonymous_variant|LOW|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|10/10|c.1086T>C|p.Tyr362Tyr|1430/2290|1086/1155|362/384||,C|synonymous_variant|LOW|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|10/10|c.882T>C|p.Tyr294Tyr|2475/3418|882/951|294/316||,C|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|2/10|c.1086T>C||||||,C|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|4/10|c.1086T>C||||||,C|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|9/10|c.1086T>C||||||,C|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|6/10|c.1086T>C||||||,C|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|3/10|c.1086T>C||||||,C|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|5/10|c.1086T>C||||||,C|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|8/10|c.1086T>C||||||,C|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|10/10|c.1086T>C||||||,C|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|7/10|c.1086T>C||||||,C|3_prime_UTR_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|9/9|n.*785T>C|||||23575|,C|downstream_gene_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000486043|retained_intron||n.*420T>C|||||2025|,C|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|9/9|n.*785T>C||||||,C|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000498140|processed_transcript|4/4|n.382T>C|||||| 22 24921714 . C T . . ANN=T|synonymous_variant|LOW|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|10/10|c.1107C>T|p.Leu369Leu|1451/2290|1107/1155|369/384||,T|synonymous_variant|LOW|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|10/10|c.903C>T|p.Leu301Leu|2496/3418|903/951|301/316||,T|3_prime_UTR_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|9/9|n.*806C>T|||||23596|,T|downstream_gene_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000486043|retained_intron||n.*420C>T|||||2046|,T|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|9/9|n.*806C>T||||||,T|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000498140|processed_transcript|4/4|n.403C>T|||||| 22 24921729 . G A . . ANN=A|synonymous_variant|LOW|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|10/10|c.1122G>A|p.Lys374Lys|1466/2290|1122/1155|374/384||,A|synonymous_variant|LOW|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|10/10|c.918G>A|p.Lys306Lys|2511/3418|918/951|306/316||,A|3_prime_UTR_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|9/9|n.*821G>A|||||23611|,A|downstream_gene_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000486043|retained_intron||n.*420G>A|||||2061|,A|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|9/9|n.*821G>A||||||,A|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000498140|processed_transcript|4/4|n.418G>A|||||| 22 24921764 . C A . . ANN=A|3_prime_UTR_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|10/10|c.*2C>A|||||2|,A|3_prime_UTR_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|10/10|c.*2C>A|||||2|,A|3_prime_UTR_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|9/9|n.*856C>A|||||23646|,A|downstream_gene_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000486043|retained_intron||n.*420C>A|||||2096|,A|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|9/9|n.*856C>A||||||,A|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000498140|processed_transcript|4/4|n.453C>A|||||| 22 24921765 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|10/10|c.*3G>A|||||3|,A|3_prime_UTR_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|10/10|c.*3G>A|||||3|,A|3_prime_UTR_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|9/9|n.*857G>A|||||23647|,A|downstream_gene_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000486043|retained_intron||n.*420G>A|||||2097|,A|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|9/9|n.*857G>A||||||,A|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000498140|processed_transcript|4/4|n.454G>A|||||| 22 24921785 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|10/10|c.*23G>A|||||23|,A|3_prime_UTR_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|10/10|c.*23G>A|||||23|,A|3_prime_UTR_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|9/9|n.*877G>A|||||23667|,A|downstream_gene_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000486043|retained_intron||n.*420G>A|||||2117|,A|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|9/9|n.*877G>A||||||,A|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000498140|processed_transcript|4/4|n.474G>A|||||| 22 24939115 . A G . . ANN=G|downstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000480272|retained_intron||n.*516T>C|||||898|,G|downstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000407973|protein_coding||c.*773T>C|||||3770|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000468170|retained_intron||n.*619T>C|||||4569|,G|downstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000490810|processed_transcript||n.*346T>C|||||4626|,G|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000404664|protein_coding|5/5|c.797-50T>C||||||,G|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000407471|protein_coding|5/5|c.629-47T>C||||||,G|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000435822|protein_coding|5/5|c.629-50T>C||||||,G|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000398245|nonsense_mediated_decay|5/6|n.629-50T>C||||||,G|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000490922|processed_transcript|1/1|n.126-2174T>C||||||,G|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000447813|protein_coding|4/4|c.387-50T>C||||||,G|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000402766|protein_coding|4/4|c.387-47T>C||||||,G|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000493099|processed_transcript|1/1|n.243-50T>C|||||| 22 24939814 . G T . . ANN=T|synonymous_variant|LOW|GUCD1|ENSG00000138867|transcript|ENST00000404664|protein_coding|5/6|c.792C>A|p.Ala264Ala|902/1606|792/888|264/295||,T|synonymous_variant|LOW|GUCD1|ENSG00000138867|transcript|ENST00000407471|protein_coding|5/6|c.624C>A|p.Ala208Ala|815/3482|624/723|208/240||,T|synonymous_variant|LOW|GUCD1|ENSG00000138867|transcript|ENST00000435822|protein_coding|5/6|c.624C>A|p.Ala208Ala|949/3613|624/720|208/239||,T|downstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000480272|retained_intron||n.*516C>A|||||199|,T|downstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000407973|protein_coding||c.*773C>A|||||3071|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000468170|retained_intron||n.*619C>A|||||3870|,T|downstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000490810|processed_transcript||n.*346C>A|||||3927|,T|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000490922|processed_transcript|1/1|n.126-2873C>A||||||,T|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000447813|protein_coding|4/4|c.387-749C>A||||||,T|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000402766|protein_coding|4/4|c.387-746C>A||||||,T|non_coding_exon_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000398245|nonsense_mediated_decay|5/7|n.624C>A||||||,T|non_coding_exon_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000493099|processed_transcript|1/2|n.238C>A|||||| 22 24939868 . C T . . ANN=T|synonymous_variant|LOW|GUCD1|ENSG00000138867|transcript|ENST00000404664|protein_coding|5/6|c.738G>A|p.Leu246Leu|848/1606|738/888|246/295||,T|synonymous_variant|LOW|GUCD1|ENSG00000138867|transcript|ENST00000407471|protein_coding|5/6|c.570G>A|p.Leu190Leu|761/3482|570/723|190/240||,T|synonymous_variant|LOW|GUCD1|ENSG00000138867|transcript|ENST00000435822|protein_coding|5/6|c.570G>A|p.Leu190Leu|895/3613|570/720|190/239||,T|downstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000480272|retained_intron||n.*516G>A|||||145|,T|downstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000407973|protein_coding||c.*773G>A|||||3017|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000468170|retained_intron||n.*619G>A|||||3816|,T|downstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000490810|processed_transcript||n.*346G>A|||||3873|,T|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000490922|processed_transcript|1/1|n.126-2927G>A||||||,T|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000447813|protein_coding|4/4|c.387-803G>A||||||,T|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000402766|protein_coding|4/4|c.387-800G>A||||||,T|non_coding_exon_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000398245|nonsense_mediated_decay|5/7|n.570G>A||||||,T|non_coding_exon_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000493099|processed_transcript|1/2|n.184G>A|||||| 22 24939873 . C T . . ANN=T|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000404664|protein_coding|5/6|c.733G>A|p.Val245Met|843/1606|733/888|245/295||,T|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000407471|protein_coding|5/6|c.565G>A|p.Val189Met|756/3482|565/723|189/240||,T|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000435822|protein_coding|5/6|c.565G>A|p.Val189Met|890/3613|565/720|189/239||,T|downstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000480272|retained_intron||n.*516G>A|||||140|,T|downstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000407973|protein_coding||c.*773G>A|||||3012|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000468170|retained_intron||n.*619G>A|||||3811|,T|downstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000490810|processed_transcript||n.*346G>A|||||3868|,T|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000490922|processed_transcript|1/1|n.126-2932G>A||||||,T|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000447813|protein_coding|4/4|c.387-808G>A||||||,T|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000402766|protein_coding|4/4|c.387-805G>A||||||,T|non_coding_exon_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000398245|nonsense_mediated_decay|5/7|n.565G>A||||||,T|non_coding_exon_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000493099|processed_transcript|1/2|n.179G>A|||||| 22 24939919 . G A . . ANN=A|synonymous_variant|LOW|GUCD1|ENSG00000138867|transcript|ENST00000404664|protein_coding|5/6|c.687C>T|p.Gly229Gly|797/1606|687/888|229/295||,A|synonymous_variant|LOW|GUCD1|ENSG00000138867|transcript|ENST00000407471|protein_coding|5/6|c.519C>T|p.Gly173Gly|710/3482|519/723|173/240||,A|synonymous_variant|LOW|GUCD1|ENSG00000138867|transcript|ENST00000435822|protein_coding|5/6|c.519C>T|p.Gly173Gly|844/3613|519/720|173/239||,A|downstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000480272|retained_intron||n.*516C>T|||||94|,A|downstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000407973|protein_coding||c.*773C>T|||||2966|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000468170|retained_intron||n.*619C>T|||||3765|,A|downstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000490810|processed_transcript||n.*346C>T|||||3822|,A|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000490922|processed_transcript|1/1|n.126-2978C>T||||||,A|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000447813|protein_coding|4/4|c.387-854C>T||||||,A|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000402766|protein_coding|4/4|c.387-851C>T||||||,A|non_coding_exon_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000398245|nonsense_mediated_decay|5/7|n.519C>T||||||,A|non_coding_exon_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000493099|processed_transcript|1/2|n.133C>T|||||| 22 24939922 . A G . . ANN=G|synonymous_variant|LOW|GUCD1|ENSG00000138867|transcript|ENST00000404664|protein_coding|5/6|c.684T>C|p.Ser228Ser|794/1606|684/888|228/295||,G|synonymous_variant|LOW|GUCD1|ENSG00000138867|transcript|ENST00000407471|protein_coding|5/6|c.516T>C|p.Ser172Ser|707/3482|516/723|172/240||,G|synonymous_variant|LOW|GUCD1|ENSG00000138867|transcript|ENST00000435822|protein_coding|5/6|c.516T>C|p.Ser172Ser|841/3613|516/720|172/239||,G|downstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000480272|retained_intron||n.*516T>C|||||91|,G|downstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000407973|protein_coding||c.*773T>C|||||2963|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000468170|retained_intron||n.*619T>C|||||3762|,G|downstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000490810|processed_transcript||n.*346T>C|||||3819|,G|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000490922|processed_transcript|1/1|n.126-2981T>C||||||,G|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000447813|protein_coding|4/4|c.387-857T>C||||||,G|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000402766|protein_coding|4/4|c.387-854T>C||||||,G|non_coding_exon_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000398245|nonsense_mediated_decay|5/7|n.516T>C||||||,G|non_coding_exon_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000493099|processed_transcript|1/2|n.130T>C|||||| 22 24939978 . C A . . ANN=A|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000404664|protein_coding|5/6|c.628G>T|p.Val210Leu|738/1606|628/888|210/295||,A|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000407471|protein_coding|5/6|c.460G>T|p.Val154Leu|651/3482|460/723|154/240||,A|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000435822|protein_coding|5/6|c.460G>T|p.Val154Leu|785/3613|460/720|154/239||,A|downstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000480272|retained_intron||n.*516G>T|||||35|,A|downstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000407973|protein_coding||c.*773G>T|||||2907|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000468170|retained_intron||n.*619G>T|||||3706|,A|downstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000490810|processed_transcript||n.*346G>T|||||3763|,A|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000490922|processed_transcript|1/1|n.126-3037G>T||||||,A|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000447813|protein_coding|4/4|c.387-913G>T||||||,A|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000402766|protein_coding|4/4|c.387-910G>T||||||,A|non_coding_exon_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000398245|nonsense_mediated_decay|5/7|n.460G>T||||||,A|non_coding_exon_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000493099|processed_transcript|1/2|n.74G>T|||||| 22 24939982 . C T . . ANN=T|synonymous_variant|LOW|GUCD1|ENSG00000138867|transcript|ENST00000404664|protein_coding|5/6|c.624G>A|p.Ser208Ser|734/1606|624/888|208/295||,T|synonymous_variant|LOW|GUCD1|ENSG00000138867|transcript|ENST00000407471|protein_coding|5/6|c.456G>A|p.Ser152Ser|647/3482|456/723|152/240||,T|synonymous_variant|LOW|GUCD1|ENSG00000138867|transcript|ENST00000435822|protein_coding|5/6|c.456G>A|p.Ser152Ser|781/3613|456/720|152/239||,T|downstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000480272|retained_intron||n.*516G>A|||||31|,T|downstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000407973|protein_coding||c.*773G>A|||||2903|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000468170|retained_intron||n.*619G>A|||||3702|,T|downstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000490810|processed_transcript||n.*346G>A|||||3759|,T|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000490922|processed_transcript|1/1|n.126-3041G>A||||||,T|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000447813|protein_coding|4/4|c.387-917G>A||||||,T|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000402766|protein_coding|4/4|c.387-914G>A||||||,T|non_coding_exon_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000398245|nonsense_mediated_decay|5/7|n.456G>A||||||,T|non_coding_exon_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000493099|processed_transcript|1/2|n.70G>A|||||| 22 24940063 . A AG . . ANN=G|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000493099|processed_transcript||n.-1dupC|||||13|,G|downstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000407973|protein_coding||c.*773dupC|||||2821|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000468170|retained_intron||n.*619dupC|||||3620|,G|downstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000490810|processed_transcript||n.*346dupC|||||3677|,G|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000404664|protein_coding|4/5|c.555-13dupC||||||,G|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000407471|protein_coding|4/5|c.387-13dupC||||||,G|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000435822|protein_coding|4/5|c.387-13dupC||||||,G|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000398245|nonsense_mediated_decay|4/6|n.387-13dupC||||||,G|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000490922|processed_transcript|1/1|n.126-3123dupC||||||,G|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000447813|protein_coding|4/4|c.387-999dupC||||||,G|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000402766|protein_coding|4/4|c.387-996dupC||||||,G|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000480272|retained_intron|1/1|n.478-13dupC|||||| 22 24940093 . A G . . ANN=G|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000493099|processed_transcript||n.-1T>C|||||42|,G|downstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000407973|protein_coding||c.*773T>C|||||2792|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000468170|retained_intron||n.*619T>C|||||3591|,G|downstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000490810|processed_transcript||n.*346T>C|||||3648|,G|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000404664|protein_coding|4/5|c.555-42T>C||||||,G|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000407471|protein_coding|4/5|c.387-42T>C||||||,G|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000435822|protein_coding|4/5|c.387-42T>C||||||,G|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000398245|nonsense_mediated_decay|4/6|n.387-42T>C||||||,G|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000490922|processed_transcript|1/1|n.126-3152T>C||||||,G|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000447813|protein_coding|4/4|c.387-1028T>C||||||,G|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000402766|protein_coding|4/4|c.387-1025T>C||||||,G|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000480272|retained_intron|1/1|n.478-42T>C|||||| 22 24942835 . T G . . ANN=G|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000493099|processed_transcript||n.-1A>C|||||2784|,G|downstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000407973|protein_coding||c.*773A>C|||||50|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000468170|retained_intron||n.*619A>C|||||849|,G|downstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000490810|processed_transcript||n.*346A>C|||||906|,G|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000404664|protein_coding|4/5|c.554+47A>C||||||,G|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000407471|protein_coding|4/5|c.386+47A>C||||||,G|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000435822|protein_coding|4/5|c.386+47A>C||||||,G|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000398245|nonsense_mediated_decay|4/6|n.386+47A>C||||||,G|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000490922|processed_transcript|1/1|n.125+1041A>C||||||,G|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000447813|protein_coding|4/4|c.386+47A>C||||||,G|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000402766|protein_coding|4/4|c.386+47A>C||||||,G|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000480272|retained_intron|1/1|n.477+47A>C|||||| 22 24942853 . A T . . ANN=T|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000493099|processed_transcript||n.-1T>A|||||2802|,T|downstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000407973|protein_coding||c.*773T>A|||||32|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000468170|retained_intron||n.*619T>A|||||831|,T|downstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000490810|processed_transcript||n.*346T>A|||||888|,T|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000404664|protein_coding|4/5|c.554+29T>A||||||,T|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000407471|protein_coding|4/5|c.386+29T>A||||||,T|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000435822|protein_coding|4/5|c.386+29T>A||||||,T|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000398245|nonsense_mediated_decay|4/6|n.386+29T>A||||||,T|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000490922|processed_transcript|1/1|n.125+1023T>A||||||,T|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000447813|protein_coding|4/4|c.386+29T>A||||||,T|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000402766|protein_coding|4/4|c.386+29T>A||||||,T|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000480272|retained_intron|1/1|n.477+29T>A|||||| 22 24942937 . G A . . ANN=A|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000404664|protein_coding|4/6|c.499C>T|p.Arg167Trp|609/1606|499/888|167/295||,A|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000407471|protein_coding|4/6|c.331C>T|p.Arg111Trp|522/3482|331/723|111/240||,A|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000435822|protein_coding|4/6|c.331C>T|p.Arg111Trp|656/3613|331/720|111/239||,A|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000447813|protein_coding|4/5|c.331C>T|p.Arg111Trp|429/895|331/411|111/136||,A|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000402766|protein_coding|4/5|c.331C>T|p.Arg111Trp|465/865|331/414|111/137||,A|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000407973|protein_coding|5/5|c.331C>T|p.Arg111Trp|721/773|331/383|111/126||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000493099|processed_transcript||n.-1C>T|||||2886|,A|downstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000468170|retained_intron||n.*619C>T|||||747|,A|downstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000490810|processed_transcript||n.*346C>T|||||804|,A|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000490922|processed_transcript|1/1|n.125+939C>T||||||,A|non_coding_exon_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000398245|nonsense_mediated_decay|4/7|n.331C>T||||||,A|non_coding_exon_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000480272|retained_intron|1/2|n.422C>T|||||| 22 24943848 . T C . . ANN=C|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000493099|processed_transcript||n.-1A>G|||||3797|,C|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000480272|retained_intron||n.-1A>G|||||490|,C|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000404664|protein_coding|3/5|c.462+28A>G||||||,C|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000407471|protein_coding|3/5|c.294+28A>G||||||,C|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000435822|protein_coding|3/5|c.294+28A>G||||||,C|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000398245|nonsense_mediated_decay|3/6|n.294+28A>G||||||,C|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000490922|processed_transcript|1/1|n.125+28A>G||||||,C|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000447813|protein_coding|3/4|c.294+28A>G||||||,C|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000402766|protein_coding|3/4|c.294+28A>G||||||,C|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000407973|protein_coding|4/4|c.294+28A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000468170|retained_intron|3/3|n.455A>G||||||,C|non_coding_exon_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000490810|processed_transcript|2/2|n.239A>G|||||| 22 24943869 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|GUCD1|ENSG00000138867|transcript|ENST00000404664|protein_coding|3/5|c.462+7G>A||||||,T|splice_region_variant&intron_variant|LOW|GUCD1|ENSG00000138867|transcript|ENST00000407471|protein_coding|3/5|c.294+7G>A||||||,T|splice_region_variant&intron_variant|LOW|GUCD1|ENSG00000138867|transcript|ENST00000435822|protein_coding|3/5|c.294+7G>A||||||,T|splice_region_variant&intron_variant|LOW|GUCD1|ENSG00000138867|transcript|ENST00000398245|nonsense_mediated_decay|3/6|n.294+7G>A||||||,T|splice_region_variant&intron_variant|LOW|GUCD1|ENSG00000138867|transcript|ENST00000490922|processed_transcript|1/1|n.125+7G>A||||||,T|splice_region_variant&intron_variant|LOW|GUCD1|ENSG00000138867|transcript|ENST00000447813|protein_coding|3/4|c.294+7G>A||||||,T|splice_region_variant&intron_variant|LOW|GUCD1|ENSG00000138867|transcript|ENST00000402766|protein_coding|3/4|c.294+7G>A||||||,T|splice_region_variant&intron_variant|LOW|GUCD1|ENSG00000138867|transcript|ENST00000407973|protein_coding|4/4|c.294+7G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000493099|processed_transcript||n.-1G>A|||||3818|,T|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000480272|retained_intron||n.-1G>A|||||511|,T|non_coding_exon_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000468170|retained_intron|3/3|n.434G>A||||||,T|non_coding_exon_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000490810|processed_transcript|2/2|n.218G>A|||||| 22 24943979 . C T . . ANN=T|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000404664|protein_coding|3/6|c.359G>A|p.Arg120Lys|469/1606|359/888|120/295||,T|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000407471|protein_coding|3/6|c.191G>A|p.Arg64Lys|382/3482|191/723|64/240||,T|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000435822|protein_coding|3/6|c.191G>A|p.Arg64Lys|516/3613|191/720|64/239||,T|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000447813|protein_coding|3/5|c.191G>A|p.Arg64Lys|289/895|191/411|64/136||,T|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000402766|protein_coding|3/5|c.191G>A|p.Arg64Lys|325/865|191/414|64/137||,T|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000407973|protein_coding|4/5|c.191G>A|p.Arg64Lys|581/773|191/383|64/126||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000493099|processed_transcript||n.-1G>A|||||3928|,T|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000480272|retained_intron||n.-1G>A|||||621|,T|non_coding_exon_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000398245|nonsense_mediated_decay|3/7|n.191G>A||||||,T|non_coding_exon_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000490922|processed_transcript|1/2|n.22G>A||||||,T|non_coding_exon_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000468170|retained_intron|3/3|n.324G>A||||||,T|non_coding_exon_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000490810|processed_transcript|2/2|n.108G>A|||||| 22 24943981 . G C . . ANN=C|synonymous_variant|LOW|GUCD1|ENSG00000138867|transcript|ENST00000404664|protein_coding|3/6|c.357C>G|p.Thr119Thr|467/1606|357/888|119/295||,C|synonymous_variant|LOW|GUCD1|ENSG00000138867|transcript|ENST00000407471|protein_coding|3/6|c.189C>G|p.Thr63Thr|380/3482|189/723|63/240||,C|synonymous_variant|LOW|GUCD1|ENSG00000138867|transcript|ENST00000435822|protein_coding|3/6|c.189C>G|p.Thr63Thr|514/3613|189/720|63/239||,C|synonymous_variant|LOW|GUCD1|ENSG00000138867|transcript|ENST00000447813|protein_coding|3/5|c.189C>G|p.Thr63Thr|287/895|189/411|63/136||,C|synonymous_variant|LOW|GUCD1|ENSG00000138867|transcript|ENST00000402766|protein_coding|3/5|c.189C>G|p.Thr63Thr|323/865|189/414|63/137||,C|synonymous_variant|LOW|GUCD1|ENSG00000138867|transcript|ENST00000407973|protein_coding|4/5|c.189C>G|p.Thr63Thr|579/773|189/383|63/126||WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000493099|processed_transcript||n.-1C>G|||||3930|,C|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000480272|retained_intron||n.-1C>G|||||623|,C|non_coding_exon_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000398245|nonsense_mediated_decay|3/7|n.189C>G||||||,C|non_coding_exon_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000490922|processed_transcript|1/2|n.20C>G||||||,C|non_coding_exon_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000468170|retained_intron|3/3|n.322C>G||||||,C|non_coding_exon_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000490810|processed_transcript|2/2|n.106C>G|||||| 22 24944053 . C T . . ANN=T|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000490922|processed_transcript||n.-1G>A|||||53|,T|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000493099|processed_transcript||n.-1G>A|||||4002|,T|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000480272|retained_intron||n.-1G>A|||||695|,T|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000404664|protein_coding|2/5|c.297-12G>A||||||,T|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000407471|protein_coding|2/5|c.129-12G>A||||||,T|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000435822|protein_coding|2/5|c.129-12G>A||||||,T|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000398245|nonsense_mediated_decay|2/6|n.129-12G>A||||||,T|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000447813|protein_coding|2/4|c.129-12G>A||||||,T|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000402766|protein_coding|2/4|c.129-12G>A||||||,T|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000407973|protein_coding|3/4|c.129-12G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000468170|retained_intron|2/2|n.262-12G>A||||||,T|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000490810|processed_transcript|1/1|n.46-12G>A|||||| 22 24944927 . T G . . ANN=G|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000404664|protein_coding|2/6|c.254A>C|p.Tyr85Ser|364/1606|254/888|85/295||,G|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000407471|protein_coding|2/6|c.86A>C|p.Tyr29Ser|277/3482|86/723|29/240||,G|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000435822|protein_coding|2/6|c.86A>C|p.Tyr29Ser|411/3613|86/720|29/239||,G|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000447813|protein_coding|2/5|c.86A>C|p.Tyr29Ser|184/895|86/411|29/136||,G|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000402766|protein_coding|2/5|c.86A>C|p.Tyr29Ser|220/865|86/414|29/137||,G|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000407973|protein_coding|3/5|c.86A>C|p.Tyr29Ser|476/773|86/383|29/126||WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000490922|processed_transcript||n.-1A>C|||||927|,G|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000493099|processed_transcript||n.-1A>C|||||4876|,G|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000480272|retained_intron||n.-1A>C|||||1569|,G|non_coding_exon_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000398245|nonsense_mediated_decay|2/7|n.86A>C||||||,G|non_coding_exon_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000468170|retained_intron|2/3|n.219A>C||||||,G|non_coding_exon_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000490810|processed_transcript|1/2|n.3A>C|||||| 22 24944943 . C T . . ANN=T|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000404664|protein_coding|2/6|c.238G>A|p.Val80Ile|348/1606|238/888|80/295||,T|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000407471|protein_coding|2/6|c.70G>A|p.Val24Ile|261/3482|70/723|24/240||,T|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000435822|protein_coding|2/6|c.70G>A|p.Val24Ile|395/3613|70/720|24/239||,T|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000447813|protein_coding|2/5|c.70G>A|p.Val24Ile|168/895|70/411|24/136||,T|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000402766|protein_coding|2/5|c.70G>A|p.Val24Ile|204/865|70/414|24/137||,T|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000407973|protein_coding|3/5|c.70G>A|p.Val24Ile|460/773|70/383|24/126||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000490922|processed_transcript||n.-1G>A|||||943|,T|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000493099|processed_transcript||n.-1G>A|||||4892|,T|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000480272|retained_intron||n.-1G>A|||||1585|,T|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000490810|processed_transcript||n.-1G>A|||||14|,T|non_coding_exon_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000398245|nonsense_mediated_decay|2/7|n.70G>A||||||,T|non_coding_exon_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000468170|retained_intron|2/3|n.203G>A|||||| 22 24950924 . G A . . ANN=A|synonymous_variant|LOW|GUCD1|ENSG00000138867|transcript|ENST00000407471|protein_coding|1/6|c.36C>T|p.Leu12Leu|227/3482|36/723|12/240||,A|synonymous_variant|LOW|GUCD1|ENSG00000138867|transcript|ENST00000435822|protein_coding|1/6|c.36C>T|p.Leu12Leu|361/3613|36/720|12/239||,A|synonymous_variant|LOW|GUCD1|ENSG00000138867|transcript|ENST00000447813|protein_coding|1/5|c.36C>T|p.Leu12Leu|134/895|36/411|12/136||,A|synonymous_variant|LOW|GUCD1|ENSG00000138867|transcript|ENST00000402766|protein_coding|1/5|c.36C>T|p.Leu12Leu|170/865|36/414|12/137||,A|synonymous_variant|LOW|GUCD1|ENSG00000138867|transcript|ENST00000407973|protein_coding|2/5|c.36C>T|p.Leu12Leu|426/773|36/383|12/126||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000215829|protein_coding||c.-588G>A|||||547|,A|upstream_gene_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000468770|retained_intron||n.-1G>A|||||1002|,A|upstream_gene_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000402849|protein_coding||c.-84G>A|||||1051|,A|upstream_gene_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay||n.-82G>A|||||1053|,A|upstream_gene_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay||n.-59G>A|||||1076|,A|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000404664|protein_coding|1/5|c.211+659C>T||||||,A|non_coding_exon_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000398245|nonsense_mediated_decay|1/7|n.36C>T||||||,A|non_coding_exon_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000468170|retained_intron|1/3|n.169C>T|||||| 22 24953595 . A G . . ANN=G|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000404664|protein_coding||c.-111T>C|||||1692|,G|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000407471|protein_coding||c.-192T>C|||||2445|,G|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000435822|protein_coding||c.-326T>C|||||2311|,G|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000398245|nonsense_mediated_decay||n.-181T>C|||||2456|,G|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000447813|protein_coding||c.-99T>C|||||2538|,G|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000402766|protein_coding||c.-135T>C|||||2502|,G|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000407973|protein_coding||c.-391T>C|||||1768|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000468170|retained_intron||n.-1T>C|||||2503|,G|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000215829|protein_coding|1/3|c.-18-30A>G||||||,G|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000468770|retained_intron|1/1|n.115-30A>G||||||,G|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000402849|protein_coding|1/4|c.-18-30A>G||||||,G|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|1/6|n.-18-30A>G||||||,G|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|1/6|n.-18-30A>G|||||| 22 24953606 . G A . . ANN=A|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000404664|protein_coding||c.-111C>T|||||1703|,A|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000407471|protein_coding||c.-192C>T|||||2456|,A|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000435822|protein_coding||c.-326C>T|||||2322|,A|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000398245|nonsense_mediated_decay||n.-181C>T|||||2467|,A|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000447813|protein_coding||c.-99C>T|||||2549|,A|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000402766|protein_coding||c.-135C>T|||||2513|,A|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000407973|protein_coding||c.-391C>T|||||1779|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000468170|retained_intron||n.-1C>T|||||2514|,A|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000215829|protein_coding|1/3|c.-18-19G>A||||||,A|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000468770|retained_intron|1/1|n.115-19G>A||||||,A|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000402849|protein_coding|1/4|c.-18-19G>A||||||,A|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|1/6|n.-18-19G>A||||||,A|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|1/6|n.-18-19G>A|||||| 22 24953611 . C G . . ANN=G|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000404664|protein_coding||c.-111G>C|||||1708|,G|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000407471|protein_coding||c.-192G>C|||||2461|,G|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000435822|protein_coding||c.-326G>C|||||2327|,G|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000398245|nonsense_mediated_decay||n.-181G>C|||||2472|,G|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000447813|protein_coding||c.-99G>C|||||2554|,G|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000402766|protein_coding||c.-135G>C|||||2518|,G|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000407973|protein_coding||c.-391G>C|||||1784|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000468170|retained_intron||n.-1G>C|||||2519|,G|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000215829|protein_coding|1/3|c.-18-14C>G||||||,G|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000468770|retained_intron|1/1|n.115-14C>G||||||,G|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000402849|protein_coding|1/4|c.-18-14C>G||||||,G|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|1/6|n.-18-14C>G||||||,G|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|1/6|n.-18-14C>G|||||| 22 24953708 . G A . . ANN=A|synonymous_variant|LOW|SNRPD3|ENSG00000100028|transcript|ENST00000215829|protein_coding|2/4|c.66G>A|p.Thr22Thr|653/1763|66/381|22/126||,A|synonymous_variant|LOW|SNRPD3|ENSG00000100028|transcript|ENST00000402849|protein_coding|2/5|c.66G>A|p.Thr22Thr|149/567|66/363|22/120||,A|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000404664|protein_coding||c.-111C>T|||||1805|,A|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000407471|protein_coding||c.-192C>T|||||2558|,A|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000435822|protein_coding||c.-326C>T|||||2424|,A|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000398245|nonsense_mediated_decay||n.-181C>T|||||2569|,A|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000447813|protein_coding||c.-99C>T|||||2651|,A|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000402766|protein_coding||c.-135C>T|||||2615|,A|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000407973|protein_coding||c.-391C>T|||||1881|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000468170|retained_intron||n.-1C>T|||||2616|,A|non_coding_exon_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000468770|retained_intron|2/2|n.198G>A||||||,A|non_coding_exon_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|2/7|n.66G>A||||||,A|non_coding_exon_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|2/7|n.66G>A|||||| 22 24953714 . C T . . ANN=T|synonymous_variant|LOW|SNRPD3|ENSG00000100028|transcript|ENST00000215829|protein_coding|2/4|c.72C>T|p.Thr24Thr|659/1763|72/381|24/126||,T|synonymous_variant|LOW|SNRPD3|ENSG00000100028|transcript|ENST00000402849|protein_coding|2/5|c.72C>T|p.Thr24Thr|155/567|72/363|24/120||,T|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000404664|protein_coding||c.-111G>A|||||1811|,T|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000407471|protein_coding||c.-192G>A|||||2564|,T|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000435822|protein_coding||c.-326G>A|||||2430|,T|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000398245|nonsense_mediated_decay||n.-181G>A|||||2575|,T|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000447813|protein_coding||c.-99G>A|||||2657|,T|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000402766|protein_coding||c.-135G>A|||||2621|,T|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000407973|protein_coding||c.-391G>A|||||1887|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000468170|retained_intron||n.-1G>A|||||2622|,T|non_coding_exon_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000468770|retained_intron|2/2|n.204C>T||||||,T|non_coding_exon_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|2/7|n.72C>T||||||,T|non_coding_exon_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|2/7|n.72C>T|||||| 22 24963975 . C T . . ANN=T|synonymous_variant|LOW|SNRPD3|ENSG00000100028|transcript|ENST00000215829|protein_coding|3/4|c.150C>T|p.Tyr50Tyr|737/1763|150/381|50/126||,T|synonymous_variant|LOW|SNRPD3|ENSG00000100028|transcript|ENST00000402849|protein_coding|3/5|c.150C>T|p.Tyr50Tyr|233/567|150/363|50/120||,T|non_coding_exon_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|3/7|n.150C>T||||||,T|non_coding_exon_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|3/7|n.150C>T|||||| 22 24964128 . T C . . ANN=C|synonymous_variant|LOW|SNRPD3|ENSG00000100028|transcript|ENST00000215829|protein_coding|3/4|c.303T>C|p.Ala101Ala|890/1763|303/381|101/126||,C|synonymous_variant|LOW|SNRPD3|ENSG00000100028|transcript|ENST00000402849|protein_coding|3/5|c.303T>C|p.Ala101Ala|386/567|303/363|101/120||,C|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|3/6|n.180+123T>C||||||,C|non_coding_exon_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|3/7|n.303T>C|||||| 22 24964151 . G T . . ANN=T|splice_region_variant&intron_variant|LOW|SNRPD3|ENSG00000100028|transcript|ENST00000215829|protein_coding|3/3|c.319+7G>T||||||,T|splice_region_variant&intron_variant|LOW|SNRPD3|ENSG00000100028|transcript|ENST00000402849|protein_coding|3/4|c.319+7G>T||||||,T|splice_region_variant&intron_variant|LOW|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|3/6|n.319+7G>T||||||,T|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|3/6|n.180+146G>T|||||| 22 24967838 . T G . . ANN=G|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000215829|protein_coding|3/3|c.320-46T>G||||||,G|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000402849|protein_coding|3/4|c.320-148T>G||||||,G|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|3/6|n.320-46T>G||||||,G|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|3/6|n.181-148T>G|||||| 22 24967842 . C T . . ANN=T|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000215829|protein_coding|3/3|c.320-42C>T||||||,T|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000402849|protein_coding|3/4|c.320-144C>T||||||,T|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|3/6|n.320-42C>T||||||,T|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|3/6|n.181-144C>T|||||| 22 24967888 . C T . . ANN=T|synonymous_variant|LOW|SNRPD3|ENSG00000100028|transcript|ENST00000215829|protein_coding|4/4|c.324C>T|p.Ala108Ala|911/1763|324/381|108/126||,T|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000402849|protein_coding|3/4|c.320-98C>T||||||,T|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|3/6|n.181-98C>T||||||,T|non_coding_exon_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|4/7|n.324C>T|||||| 22 24967962 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000215829|protein_coding|4/4|c.*17G>A|||||17|,A|3_prime_UTR_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|4/7|n.*17G>A|||||17|,A|TF_binding_site_variant|MODIFIER|||HNF4A|MA0114.1|||||||||,A|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000402849|protein_coding|3/4|c.320-24G>A||||||,A|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|3/6|n.181-24G>A||||||,A|non_coding_exon_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|4/7|n.*17G>A|||||| 22 24981880 . C T . . ANN=T|missense_variant|MODERATE|FAM211B|ENSG00000178026|transcript|ENST00000318753|protein_coding|4/4|c.922G>A|p.Glu308Lys|946/1238|922/948|308/315||,T|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|5/5|n.*1182G>A|||||3333|,T|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|5/5|n.*904G>A|||||6463|,T|downstream_gene_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000402849|protein_coding||c.*446C>T|||||3860|,T|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000495297|processed_transcript||n.*782G>A|||||2770|,T|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000465334|retained_intron||n.*957G>A|||||3253|,T|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000464490|processed_transcript||n.*575G>A|||||3494|,T|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|1/15|c.-429+2104C>T||||||,T|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|5/6|n.*167+2104C>T||||||,T|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|5/6|n.*162+2104C>T||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|5/5|n.*1182G>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000491910|retained_intron|4/4|n.2666G>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|5/5|n.*904G>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000460524|retained_intron|4/4|n.2026G>A|||||| 22 24981881 . G A . . ANN=A|synonymous_variant|LOW|FAM211B|ENSG00000178026|transcript|ENST00000318753|protein_coding|4/4|c.921C>T|p.Pro307Pro|945/1238|921/948|307/315||,A|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|5/5|n.*1181C>T|||||3332|,A|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|5/5|n.*903C>T|||||6462|,A|downstream_gene_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000402849|protein_coding||c.*446G>A|||||3861|,A|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000495297|processed_transcript||n.*782C>T|||||2769|,A|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000465334|retained_intron||n.*957C>T|||||3252|,A|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000464490|processed_transcript||n.*575C>T|||||3493|,A|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|1/15|c.-429+2105G>A||||||,A|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|5/6|n.*167+2105G>A||||||,A|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|5/6|n.*162+2105G>A||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|5/5|n.*1181C>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000491910|retained_intron|4/4|n.2665C>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|5/5|n.*903C>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000460524|retained_intron|4/4|n.2025C>T|||||| 22 24981938 . C T . . ANN=T|synonymous_variant|LOW|FAM211B|ENSG00000178026|transcript|ENST00000318753|protein_coding|4/4|c.864G>A|p.Ala288Ala|888/1238|864/948|288/315||,T|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|5/5|n.*1124G>A|||||3275|,T|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|5/5|n.*846G>A|||||6405|,T|downstream_gene_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000402849|protein_coding||c.*446C>T|||||3918|,T|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000495297|processed_transcript||n.*782G>A|||||2712|,T|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000465334|retained_intron||n.*957G>A|||||3195|,T|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000464490|processed_transcript||n.*575G>A|||||3436|,T|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|1/15|c.-429+2162C>T||||||,T|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|5/6|n.*167+2162C>T||||||,T|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|5/6|n.*162+2162C>T||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|5/5|n.*1124G>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000491910|retained_intron|4/4|n.2608G>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|5/5|n.*846G>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000460524|retained_intron|4/4|n.1968G>A|||||| 22 24981958 . G T . . ANN=T|missense_variant|MODERATE|FAM211B|ENSG00000178026|transcript|ENST00000318753|protein_coding|4/4|c.844C>A|p.Leu282Ile|868/1238|844/948|282/315||,T|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|5/5|n.*1104C>A|||||3255|,T|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|5/5|n.*826C>A|||||6385|,T|downstream_gene_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000402849|protein_coding||c.*446G>T|||||3938|,T|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000495297|processed_transcript||n.*782C>A|||||2692|,T|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000465334|retained_intron||n.*957C>A|||||3175|,T|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000464490|processed_transcript||n.*575C>A|||||3416|,T|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|1/15|c.-429+2182G>T||||||,T|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|5/6|n.*167+2182G>T||||||,T|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|5/6|n.*162+2182G>T||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|5/5|n.*1104C>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000491910|retained_intron|4/4|n.2588C>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|5/5|n.*826C>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000460524|retained_intron|4/4|n.1948C>A|||||| 22 24981983 . G A . . ANN=A|synonymous_variant|LOW|FAM211B|ENSG00000178026|transcript|ENST00000318753|protein_coding|4/4|c.819C>T|p.Leu273Leu|843/1238|819/948|273/315||,A|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|5/5|n.*1079C>T|||||3230|,A|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|5/5|n.*801C>T|||||6360|,A|downstream_gene_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000402849|protein_coding||c.*446G>A|||||3963|,A|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000495297|processed_transcript||n.*782C>T|||||2667|,A|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000465334|retained_intron||n.*957C>T|||||3150|,A|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000464490|processed_transcript||n.*575C>T|||||3391|,A|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|1/15|c.-429+2207G>A||||||,A|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|5/6|n.*167+2207G>A||||||,A|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|5/6|n.*162+2207G>A||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|5/5|n.*1079C>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000491910|retained_intron|4/4|n.2563C>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|5/5|n.*801C>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000460524|retained_intron|4/4|n.1923C>T|||||| 22 24981993 . C T . . ANN=T|missense_variant|MODERATE|FAM211B|ENSG00000178026|transcript|ENST00000318753|protein_coding|4/4|c.809G>A|p.Arg270His|833/1238|809/948|270/315||,T|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|5/5|n.*1069G>A|||||3220|,T|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|5/5|n.*791G>A|||||6350|,T|downstream_gene_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000402849|protein_coding||c.*446C>T|||||3973|,T|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000495297|processed_transcript||n.*782G>A|||||2657|,T|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000465334|retained_intron||n.*957G>A|||||3140|,T|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000464490|processed_transcript||n.*575G>A|||||3381|,T|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|1/15|c.-429+2217C>T||||||,T|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|5/6|n.*167+2217C>T||||||,T|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|5/6|n.*162+2217C>T||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|5/5|n.*1069G>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000491910|retained_intron|4/4|n.2553G>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|5/5|n.*791G>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000460524|retained_intron|4/4|n.1913G>A|||||| 22 24982011 . C T . . ANN=T|missense_variant|MODERATE|FAM211B|ENSG00000178026|transcript|ENST00000318753|protein_coding|4/4|c.791G>A|p.Arg264His|815/1238|791/948|264/315||,T|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|5/5|n.*1051G>A|||||3202|,T|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|5/5|n.*773G>A|||||6332|,T|downstream_gene_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000402849|protein_coding||c.*446C>T|||||3991|,T|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000495297|processed_transcript||n.*782G>A|||||2639|,T|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000465334|retained_intron||n.*957G>A|||||3122|,T|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000464490|processed_transcript||n.*575G>A|||||3363|,T|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|1/15|c.-429+2235C>T||||||,T|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|5/6|n.*167+2235C>T||||||,T|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|5/6|n.*162+2235C>T||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|5/5|n.*1051G>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000491910|retained_intron|4/4|n.2535G>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|5/5|n.*773G>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000460524|retained_intron|4/4|n.1895G>A|||||| 22 24982103 . C G . . ANN=G|missense_variant|MODERATE|FAM211B|ENSG00000178026|transcript|ENST00000318753|protein_coding|4/4|c.699G>C|p.Lys233Asn|723/1238|699/948|233/315||,G|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|5/5|n.*959G>C|||||3110|,G|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|5/5|n.*681G>C|||||6240|,G|downstream_gene_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000402849|protein_coding||c.*446C>G|||||4083|,G|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000495297|processed_transcript||n.*782G>C|||||2547|,G|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000465334|retained_intron||n.*957G>C|||||3030|,G|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000464490|processed_transcript||n.*575G>C|||||3271|,G|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|1/15|c.-429+2327C>G||||||,G|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|5/6|n.*167+2327C>G||||||,G|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|5/6|n.*162+2327C>G||||||,G|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|5/5|n.*959G>C||||||,G|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000491910|retained_intron|4/4|n.2443G>C||||||,G|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|5/5|n.*681G>C||||||,G|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000460524|retained_intron|4/4|n.1803G>C|||||| 22 24982126 . G A . . ANN=A|missense_variant|MODERATE|FAM211B|ENSG00000178026|transcript|ENST00000318753|protein_coding|4/4|c.676C>T|p.Arg226Cys|700/1238|676/948|226/315||,A|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|5/5|n.*936C>T|||||3087|,A|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|5/5|n.*658C>T|||||6217|,A|downstream_gene_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000402849|protein_coding||c.*446G>A|||||4106|,A|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000495297|processed_transcript||n.*782C>T|||||2524|,A|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000465334|retained_intron||n.*957C>T|||||3007|,A|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000464490|processed_transcript||n.*575C>T|||||3248|,A|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|1/15|c.-429+2350G>A||||||,A|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|5/6|n.*167+2350G>A||||||,A|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|5/6|n.*162+2350G>A||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|5/5|n.*936C>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000491910|retained_intron|4/4|n.2420C>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|5/5|n.*658C>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000460524|retained_intron|4/4|n.1780C>T|||||| 22 24982137 . C T . . ANN=T|missense_variant|MODERATE|FAM211B|ENSG00000178026|transcript|ENST00000318753|protein_coding|4/4|c.665G>A|p.Arg222Gln|689/1238|665/948|222/315||,T|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|5/5|n.*925G>A|||||3076|,T|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|5/5|n.*647G>A|||||6206|,T|downstream_gene_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000402849|protein_coding||c.*446C>T|||||4117|,T|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000495297|processed_transcript||n.*782G>A|||||2513|,T|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000465334|retained_intron||n.*957G>A|||||2996|,T|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000464490|processed_transcript||n.*575G>A|||||3237|,T|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|1/15|c.-429+2361C>T||||||,T|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|5/6|n.*167+2361C>T||||||,T|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|5/6|n.*162+2361C>T||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|5/5|n.*925G>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000491910|retained_intron|4/4|n.2409G>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|5/5|n.*647G>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000460524|retained_intron|4/4|n.1769G>A|||||| 22 24982154 . G A . . ANN=A|synonymous_variant|LOW|FAM211B|ENSG00000178026|transcript|ENST00000318753|protein_coding|4/4|c.648C>T|p.Asn216Asn|672/1238|648/948|216/315||,A|sequence_feature|LOW|FAM211B|ENSG00000178026|repeat:LRR_2|ENST00000318753|protein_coding|4/4|c.648C>T||||||,A|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|5/5|n.*908C>T|||||3059|,A|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|5/5|n.*630C>T|||||6189|,A|downstream_gene_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000402849|protein_coding||c.*446G>A|||||4134|,A|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000495297|processed_transcript||n.*782C>T|||||2496|,A|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000465334|retained_intron||n.*957C>T|||||2979|,A|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000464490|processed_transcript||n.*575C>T|||||3220|,A|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|1/15|c.-429+2378G>A||||||,A|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|5/6|n.*167+2378G>A||||||,A|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|5/6|n.*162+2378G>A||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|5/5|n.*908C>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000491910|retained_intron|4/4|n.2392C>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|5/5|n.*630C>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000460524|retained_intron|4/4|n.1752C>T|||||| 22 24982181 . C T . . ANN=T|synonymous_variant|LOW|FAM211B|ENSG00000178026|transcript|ENST00000318753|protein_coding|4/4|c.621G>A|p.Leu207Leu|645/1238|621/948|207/315||,T|sequence_feature|LOW|FAM211B|ENSG00000178026|repeat:LRR_2|ENST00000318753|protein_coding|4/4|c.621G>A||||||,T|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|5/5|n.*881G>A|||||3032|,T|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|5/5|n.*603G>A|||||6162|,T|downstream_gene_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000402849|protein_coding||c.*446C>T|||||4161|,T|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000495297|processed_transcript||n.*782G>A|||||2469|,T|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000465334|retained_intron||n.*957G>A|||||2952|,T|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000464490|processed_transcript||n.*575G>A|||||3193|,T|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|1/15|c.-429+2405C>T||||||,T|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|5/6|n.*167+2405C>T||||||,T|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|5/6|n.*162+2405C>T||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|5/5|n.*881G>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000491910|retained_intron|4/4|n.2365G>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|5/5|n.*603G>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000460524|retained_intron|4/4|n.1725G>A|||||| 22 24982233 . G A . . ANN=A|missense_variant|MODERATE|FAM211B|ENSG00000178026|transcript|ENST00000318753|protein_coding|4/4|c.569C>T|p.Thr190Met|593/1238|569/948|190/315||,A|sequence_feature|LOW|FAM211B|ENSG00000178026|repeat:LRR_1|ENST00000318753|protein_coding|4/4|c.569C>T||||||,A|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|5/5|n.*829C>T|||||2980|,A|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|5/5|n.*551C>T|||||6110|,A|downstream_gene_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000402849|protein_coding||c.*446G>A|||||4213|,A|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000495297|processed_transcript||n.*782C>T|||||2417|,A|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000465334|retained_intron||n.*957C>T|||||2900|,A|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000464490|processed_transcript||n.*575C>T|||||3141|,A|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|1/15|c.-429+2457G>A||||||,A|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|5/6|n.*167+2457G>A||||||,A|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|5/6|n.*162+2457G>A||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|5/5|n.*829C>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000491910|retained_intron|4/4|n.2313C>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|5/5|n.*551C>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000460524|retained_intron|4/4|n.1673C>T|||||| 22 24982253 . C T . . ANN=T|synonymous_variant|LOW|FAM211B|ENSG00000178026|transcript|ENST00000318753|protein_coding|4/4|c.549G>A|p.Ala183Ala|573/1238|549/948|183/315||,T|sequence_feature|LOW|FAM211B|ENSG00000178026|repeat:LRR_1|ENST00000318753|protein_coding|4/4|c.549G>A||||||,T|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|5/5|n.*809G>A|||||2960|,T|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|5/5|n.*531G>A|||||6090|,T|downstream_gene_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000402849|protein_coding||c.*446C>T|||||4233|,T|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000495297|processed_transcript||n.*782G>A|||||2397|,T|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000465334|retained_intron||n.*957G>A|||||2880|,T|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000464490|processed_transcript||n.*575G>A|||||3121|,T|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|1/15|c.-429+2477C>T||||||,T|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|5/6|n.*167+2477C>T||||||,T|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|5/6|n.*162+2477C>T||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|5/5|n.*809G>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000491910|retained_intron|4/4|n.2293G>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|5/5|n.*531G>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000460524|retained_intron|4/4|n.1653G>A|||||| 22 24982254 . G A . . ANN=A|missense_variant|MODERATE|FAM211B|ENSG00000178026|transcript|ENST00000318753|protein_coding|4/4|c.548C>T|p.Ala183Val|572/1238|548/948|183/315||,A|sequence_feature|LOW|FAM211B|ENSG00000178026|repeat:LRR_1|ENST00000318753|protein_coding|4/4|c.548C>T||||||,A|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|5/5|n.*808C>T|||||2959|,A|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|5/5|n.*530C>T|||||6089|,A|downstream_gene_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000402849|protein_coding||c.*446G>A|||||4234|,A|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000495297|processed_transcript||n.*782C>T|||||2396|,A|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000465334|retained_intron||n.*957C>T|||||2879|,A|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000464490|processed_transcript||n.*575C>T|||||3120|,A|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|1/15|c.-429+2478G>A||||||,A|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|5/6|n.*167+2478G>A||||||,A|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|5/6|n.*162+2478G>A||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|5/5|n.*808C>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000491910|retained_intron|4/4|n.2292C>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|5/5|n.*530C>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000460524|retained_intron|4/4|n.1652C>T|||||| 22 24982301 . G T . . ANN=T|missense_variant|MODERATE|FAM211B|ENSG00000178026|transcript|ENST00000318753|protein_coding|4/4|c.501C>A|p.Asp167Glu|525/1238|501/948|167/315||,T|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|5/5|n.*761C>A|||||2912|,T|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|5/5|n.*483C>A|||||6042|,T|downstream_gene_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000402849|protein_coding||c.*446G>T|||||4281|,T|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000495297|processed_transcript||n.*782C>A|||||2349|,T|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000465334|retained_intron||n.*957C>A|||||2832|,T|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000464490|processed_transcript||n.*575C>A|||||3073|,T|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|1/15|c.-429+2525G>T||||||,T|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|5/6|n.*167+2525G>T||||||,T|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|5/6|n.*162+2525G>T||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|5/5|n.*761C>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000491910|retained_intron|4/4|n.2245C>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|5/5|n.*483C>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000460524|retained_intron|4/4|n.1605C>A|||||| 22 24982335 . A G . . ANN=G|missense_variant|MODERATE|FAM211B|ENSG00000178026|transcript|ENST00000318753|protein_coding|4/4|c.467T>C|p.Val156Ala|491/1238|467/948|156/315||,G|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|5/5|n.*727T>C|||||2878|,G|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|5/5|n.*449T>C|||||6008|,G|downstream_gene_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000402849|protein_coding||c.*446A>G|||||4315|,G|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000495297|processed_transcript||n.*782T>C|||||2315|,G|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000465334|retained_intron||n.*957T>C|||||2798|,G|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000464490|processed_transcript||n.*575T>C|||||3039|,G|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|1/15|c.-429+2559A>G||||||,G|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|5/6|n.*167+2559A>G||||||,G|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|5/6|n.*162+2559A>G||||||,G|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|5/5|n.*727T>C||||||,G|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000491910|retained_intron|4/4|n.2211T>C||||||,G|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|5/5|n.*449T>C||||||,G|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000460524|retained_intron|4/4|n.1571T>C|||||| 22 24984143 . A G . . ANN=G|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000495297|processed_transcript||n.*782T>C|||||507|,G|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000465334|retained_intron||n.*957T>C|||||990|,G|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000464490|processed_transcript||n.*575T>C|||||1231|,G|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|1/15|c.-429+4367A>G||||||,G|intron_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000318753|protein_coding|3/3|c.422+39T>C||||||,G|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|5/6|n.*167+4367A>G||||||,G|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|5/6|n.*162+4367A>G||||||,G|intron_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|4/4|n.*682+39T>C||||||,G|intron_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000491910|retained_intron|3/3|n.2166+39T>C||||||,G|intron_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|4/4|n.*404+39T>C||||||,G|intron_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000460524|retained_intron|3/3|n.1526+39T>C|||||| 22 24984186 . T G . . ANN=G|missense_variant|MODERATE|FAM211B|ENSG00000178026|transcript|ENST00000318753|protein_coding|3/4|c.418A>C|p.Ser140Arg|442/1238|418/948|140/315||,G|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|4/5|n.*678A>C|||||1027|,G|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|4/5|n.*400A>C|||||4157|,G|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000495297|processed_transcript||n.*782A>C|||||464|,G|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000465334|retained_intron||n.*957A>C|||||947|,G|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000464490|processed_transcript||n.*575A>C|||||1188|,G|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|1/15|c.-429+4410T>G||||||,G|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|5/6|n.*167+4410T>G||||||,G|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|5/6|n.*162+4410T>G||||||,G|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|4/5|n.*678A>C||||||,G|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000491910|retained_intron|3/4|n.2162A>C||||||,G|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|4/5|n.*400A>C||||||,G|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000460524|retained_intron|3/4|n.1522A>C|||||| 22 24984189 . G T . . ANN=T|missense_variant|MODERATE|FAM211B|ENSG00000178026|transcript|ENST00000318753|protein_coding|3/4|c.415C>A|p.Gln139Lys|439/1238|415/948|139/315||,T|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|4/5|n.*675C>A|||||1024|,T|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|4/5|n.*397C>A|||||4154|,T|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000495297|processed_transcript||n.*782C>A|||||461|,T|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000465334|retained_intron||n.*957C>A|||||944|,T|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000464490|processed_transcript||n.*575C>A|||||1185|,T|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|1/15|c.-429+4413G>T||||||,T|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|5/6|n.*167+4413G>T||||||,T|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|5/6|n.*162+4413G>T||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|4/5|n.*675C>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000491910|retained_intron|3/4|n.2159C>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|4/5|n.*397C>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000460524|retained_intron|3/4|n.1519C>A|||||| 22 24984204 . G A . . ANN=A|missense_variant|MODERATE|FAM211B|ENSG00000178026|transcript|ENST00000318753|protein_coding|3/4|c.400C>T|p.Arg134Cys|424/1238|400/948|134/315||,A|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|4/5|n.*660C>T|||||1009|,A|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|4/5|n.*382C>T|||||4139|,A|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000495297|processed_transcript||n.*782C>T|||||446|,A|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000465334|retained_intron||n.*957C>T|||||929|,A|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000464490|processed_transcript||n.*575C>T|||||1170|,A|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|1/15|c.-429+4428G>A||||||,A|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|5/6|n.*167+4428G>A||||||,A|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|5/6|n.*162+4428G>A||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|4/5|n.*660C>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000491910|retained_intron|3/4|n.2144C>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|4/5|n.*382C>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000460524|retained_intron|3/4|n.1504C>T|||||| 22 24984215 . C G . . ANN=G|missense_variant|MODERATE|FAM211B|ENSG00000178026|transcript|ENST00000318753|protein_coding|3/4|c.389G>C|p.Gly130Ala|413/1238|389/948|130/315||,G|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|4/5|n.*649G>C|||||998|,G|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|4/5|n.*371G>C|||||4128|,G|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000495297|processed_transcript||n.*782G>C|||||435|,G|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000465334|retained_intron||n.*957G>C|||||918|,G|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000464490|processed_transcript||n.*575G>C|||||1159|,G|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|1/15|c.-429+4439C>G||||||,G|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|5/6|n.*167+4439C>G||||||,G|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|5/6|n.*162+4439C>G||||||,G|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|4/5|n.*649G>C||||||,G|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000491910|retained_intron|3/4|n.2133G>C||||||,G|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|4/5|n.*371G>C||||||,G|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000460524|retained_intron|3/4|n.1493G>C|||||| 22 24984260 . C A . . ANN=A|missense_variant|MODERATE|FAM211B|ENSG00000178026|transcript|ENST00000318753|protein_coding|3/4|c.344G>T|p.Arg115Leu|368/1238|344/948|115/315||,A|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|4/5|n.*604G>T|||||953|,A|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|4/5|n.*326G>T|||||4083|,A|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000495297|processed_transcript||n.*782G>T|||||390|,A|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000465334|retained_intron||n.*957G>T|||||873|,A|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000464490|processed_transcript||n.*575G>T|||||1114|,A|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|1/15|c.-429+4484C>A||||||,A|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|5/6|n.*167+4484C>A||||||,A|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|5/6|n.*162+4484C>A||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|4/5|n.*604G>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000491910|retained_intron|3/4|n.2088G>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|4/5|n.*326G>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000460524|retained_intron|3/4|n.1448G>T|||||| 22 24984261 . G A . . ANN=A|stop_gained|HIGH|FAM211B|ENSG00000178026|transcript|ENST00000318753|protein_coding|3/4|c.343C>T|p.Arg115*|367/1238|343/948|115/315||,A|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|4/5|n.*603C>T|||||952|,A|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|4/5|n.*325C>T|||||4082|,A|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000495297|processed_transcript||n.*782C>T|||||389|,A|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000465334|retained_intron||n.*957C>T|||||872|,A|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000464490|processed_transcript||n.*575C>T|||||1113|,A|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|1/15|c.-429+4485G>A||||||,A|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|5/6|n.*167+4485G>A||||||,A|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|5/6|n.*162+4485G>A||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|4/5|n.*603C>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000491910|retained_intron|3/4|n.2087C>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|4/5|n.*325C>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000460524|retained_intron|3/4|n.1447C>T||||||;LOF=(FAM211B|ENSG00000178026|8|0.13);NMD=(FAM211B|ENSG00000178026|8|0.13) 22 24984270 . T C . . ANN=C|missense_variant|MODERATE|FAM211B|ENSG00000178026|transcript|ENST00000318753|protein_coding|3/4|c.334A>G|p.Lys112Glu|358/1238|334/948|112/315||,C|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|4/5|n.*594A>G|||||943|,C|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|4/5|n.*316A>G|||||4073|,C|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000495297|processed_transcript||n.*782A>G|||||380|,C|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000465334|retained_intron||n.*957A>G|||||863|,C|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000464490|processed_transcript||n.*575A>G|||||1104|,C|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|1/15|c.-429+4494T>C||||||,C|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|5/6|n.*167+4494T>C||||||,C|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|5/6|n.*162+4494T>C||||||,C|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|4/5|n.*594A>G||||||,C|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000491910|retained_intron|3/4|n.2078A>G||||||,C|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|4/5|n.*316A>G||||||,C|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000460524|retained_intron|3/4|n.1438A>G|||||| 22 24984275 . G A . . ANN=A|missense_variant|MODERATE|FAM211B|ENSG00000178026|transcript|ENST00000318753|protein_coding|3/4|c.329C>T|p.Ser110Leu|353/1238|329/948|110/315||,A|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|4/5|n.*589C>T|||||938|,A|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|4/5|n.*311C>T|||||4068|,A|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000495297|processed_transcript||n.*782C>T|||||375|,A|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000465334|retained_intron||n.*957C>T|||||858|,A|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000464490|processed_transcript||n.*575C>T|||||1099|,A|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|1/15|c.-429+4499G>A||||||,A|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|5/6|n.*167+4499G>A||||||,A|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|5/6|n.*162+4499G>A||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|4/5|n.*589C>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000491910|retained_intron|3/4|n.2073C>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|4/5|n.*311C>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000460524|retained_intron|3/4|n.1433C>T|||||| 22 24984304 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|FAM211B|ENSG00000178026|transcript|ENST00000318753|protein_coding|2/3|c.307-7C>T||||||,A|splice_region_variant&intron_variant|LOW|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|3/4|n.*567-7C>T||||||,A|splice_region_variant&intron_variant|LOW|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|3/4|n.*289-7C>T||||||,A|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000495297|processed_transcript||n.*782C>T|||||346|,A|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000465334|retained_intron||n.*957C>T|||||829|,A|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000464490|processed_transcript||n.*575C>T|||||1070|,A|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|1/15|c.-429+4528G>A||||||,A|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|5/6|n.*167+4528G>A||||||,A|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|5/6|n.*162+4528G>A||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000491910|retained_intron|3/4|n.2044C>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000460524|retained_intron|3/4|n.1404C>T|||||| 22 24985742 . C A . . ANN=A|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|1/15|c.-429+5966C>A||||||,A|intron_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000318753|protein_coding|2/3|c.306+47G>T||||||,A|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|5/6|n.*167+5966C>A||||||,A|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|5/6|n.*162+5966C>A||||||,A|intron_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|2/4|n.306+47G>T||||||,A|intron_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000491910|retained_intron|2/3|n.986+47G>T||||||,A|intron_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|3/4|n.*288+47G>T||||||,A|intron_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000460524|retained_intron|2/3|n.346+47G>T||||||,A|intron_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000495297|processed_transcript|2/2|n.198+47G>T||||||,A|intron_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000464490|processed_transcript|3/3|n.367+47G>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000465334|retained_intron|2/2|n.348G>T|||||| 22 24985840 . G T . . ANN=T|synonymous_variant|LOW|FAM211B|ENSG00000178026|transcript|ENST00000318753|protein_coding|2/4|c.255C>A|p.Ile85Ile|279/1238|255/948|85/315||,T|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|3/5|n.*237C>A|||||2503|,T|upstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000456869|protein_coding||c.-508G>T|||||4938|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000411974|protein_coding||c.-397G>T|||||4941|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|1/15|c.-429+6064G>T||||||,T|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|5/6|n.*167+6064G>T||||||,T|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|5/6|n.*162+6064G>T||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|2/5|n.255C>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000491910|retained_intron|2/4|n.935C>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|3/5|n.*237C>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000460524|retained_intron|2/4|n.295C>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000495297|processed_transcript|2/3|n.147C>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000465334|retained_intron|2/2|n.250C>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000464490|processed_transcript|3/4|n.316C>A|||||| 22 24985853 . G A . . ANN=A|missense_variant|MODERATE|FAM211B|ENSG00000178026|transcript|ENST00000318753|protein_coding|2/4|c.242C>T|p.Pro81Leu|266/1238|242/948|81/315||,A|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|3/5|n.*224C>T|||||2490|,A|upstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000456869|protein_coding||c.-508G>A|||||4925|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000411974|protein_coding||c.-397G>A|||||4928|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|1/15|c.-429+6077G>A||||||,A|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|5/6|n.*167+6077G>A||||||,A|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|5/6|n.*162+6077G>A||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|2/5|n.242C>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000491910|retained_intron|2/4|n.922C>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|3/5|n.*224C>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000460524|retained_intron|2/4|n.282C>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000495297|processed_transcript|2/3|n.134C>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000465334|retained_intron|2/2|n.237C>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000464490|processed_transcript|3/4|n.303C>T|||||| 22 24988805 . A C . . ANN=C|upstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000495297|processed_transcript||n.-1T>G|||||553|,C|upstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000456869|protein_coding||c.-508A>C|||||1973|WARNING_TRANSCRIPT_NO_STOP_CODON,C|upstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000411974|protein_coding||c.-397A>C|||||1976|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|1/15|c.-429+9029A>C||||||,C|intron_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000318753|protein_coding|1/3|c.177+25T>G||||||,C|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|5/6|n.*167+9029A>C||||||,C|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|5/6|n.*162+9029A>C||||||,C|intron_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|1/4|n.177+25T>G||||||,C|intron_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|1/4|n.177+25T>G||||||,C|intron_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000460524|retained_intron|1/3|n.217+25T>G||||||,C|intron_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000465334|retained_intron|1/1|n.172+25T>G||||||,C|intron_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000464490|processed_transcript|1/3|n.31+340T>G||||||,C|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000491910|retained_intron|1/4|n.236T>G|||||| 22 24988920 . C T . . ANN=T|synonymous_variant|LOW|FAM211B|ENSG00000178026|transcript|ENST00000318753|protein_coding|1/4|c.87G>A|p.Glu29Glu|111/1238|87/948|29/315||,T|upstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000495297|processed_transcript||n.-1G>A|||||668|,T|upstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000456869|protein_coding||c.-508C>T|||||1858|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000411974|protein_coding||c.-397C>T|||||1861|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|1/15|c.-429+9144C>T||||||,T|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|5/6|n.*167+9144C>T||||||,T|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|5/6|n.*162+9144C>T||||||,T|intron_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000464490|processed_transcript|1/3|n.31+225G>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|1/5|n.87G>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000491910|retained_intron|1/4|n.121G>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|1/5|n.87G>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000460524|retained_intron|1/4|n.127G>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000465334|retained_intron|1/2|n.82G>A|||||| 22 25010885 . G A . . ANN=A|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|12/16|c.295+12G>A||||||,A|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|5/16|c.295+12G>A||||||,A|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|6/16|c.295+12G>A||||||,A|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|8/16|c.295+12G>A||||||,A|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|13/16|c.295+12G>A||||||,A|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|11/16|c.295+12G>A||||||,A|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|7/16|c.295+12G>A||||||,A|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|15/16|c.295+12G>A||||||,A|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|14/16|c.295+12G>A||||||,A|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|10/16|c.295+12G>A||||||,A|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|9/16|c.295+12G>A||||||,A|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|16/16|c.295+12G>A||||||,A|sequence_feature|LOW|GGT1|ENSG00000100031|turn|ENST00000248923|protein_coding|6/16|c.295+12G>A||||||,A|sequence_feature|LOW|GGT1|ENSG00000100031|turn|ENST00000248923|protein_coding|7/16|c.295+12G>A||||||,A|downstream_gene_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay||n.*462G>A|||||4938|,A|downstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000456869|protein_coding||c.*597G>A|||||3747|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000445029|protein_coding||c.*606G>A|||||104|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000438643|protein_coding||c.*537G>A|||||3726|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000412898|protein_coding||c.*831G>A|||||67|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000455483|protein_coding||c.*579G>A|||||14|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|6/15|c.295+12G>A||||||,A|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000411974|protein_coding|6/6|c.295+12G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000412658|protein_coding|6/13|c.295+12G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000419133|protein_coding|6/7|c.295+12G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000400382|protein_coding|6/15|c.295+12G>A||||||,A|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000452551|protein_coding|6/6|c.295+12G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000400383|protein_coding|6/15|c.295+12G>A||||||,A|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000400380|protein_coding|7/16|c.295+12G>A||||||,A|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000430289|protein_coding|7/7|c.295+12G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000447416|protein_coding|5/5|c.295+12G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000432867|protein_coding|6/6|c.295+12G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000451366|protein_coding|6/6|c.295+12G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000406383|protein_coding|6/15|c.295+12G>A||||||,A|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000428855|protein_coding|6/6|c.295+12G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000425895|nonsense_mediated_decay|5/14|n.295+12G>A||||||,A|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000474191|processed_transcript|2/3|n.338-123G>A||||||,A|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000487766|retained_intron|1/2|n.45+12G>A|||||| 22 25010967 . G C . . ANN=C|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|12/16|c.296-41G>C||||||,C|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|5/16|c.296-41G>C||||||,C|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|6/16|c.296-41G>C||||||,C|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|8/16|c.296-41G>C||||||,C|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|13/16|c.296-41G>C||||||,C|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|11/16|c.296-41G>C||||||,C|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|7/16|c.296-41G>C||||||,C|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|15/16|c.296-41G>C||||||,C|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|14/16|c.296-41G>C||||||,C|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|10/16|c.296-41G>C||||||,C|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|9/16|c.296-41G>C||||||,C|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|16/16|c.296-41G>C||||||,C|sequence_feature|LOW|GGT1|ENSG00000100031|turn|ENST00000248923|protein_coding|6/16|c.296-41G>C||||||,C|sequence_feature|LOW|GGT1|ENSG00000100031|turn|ENST00000248923|protein_coding|7/16|c.296-41G>C||||||,C|downstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000456869|protein_coding||c.*597G>C|||||3829|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000445029|protein_coding||c.*606G>C|||||186|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000438643|protein_coding||c.*537G>C|||||3808|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000412898|protein_coding||c.*831G>C|||||149|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000455483|protein_coding||c.*579G>C|||||96|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|6/15|c.296-41G>C||||||,C|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000411974|protein_coding|6/6|c.296-41G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000412658|protein_coding|6/13|c.296-41G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000419133|protein_coding|6/7|c.296-41G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000400382|protein_coding|6/15|c.296-41G>C||||||,C|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000452551|protein_coding|6/6|c.296-41G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000400383|protein_coding|6/15|c.296-41G>C||||||,C|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000400380|protein_coding|7/16|c.296-41G>C||||||,C|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000430289|protein_coding|7/7|c.296-41G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000447416|protein_coding|5/5|c.296-41G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000432867|protein_coding|6/6|c.296-41G>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000451366|protein_coding|6/6|c.296-41G>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000406383|protein_coding|6/15|c.296-41G>C||||||,C|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000428855|protein_coding|6/6|c.296-41G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000425895|nonsense_mediated_decay|5/14|n.296-41G>C||||||,C|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000474191|processed_transcript|2/3|n.338-41G>C||||||,C|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000487766|retained_intron|1/2|n.46-41G>C|||||| 22 25010979 . C T . . ANN=T|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|12/16|c.296-29C>T||||||,T|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|5/16|c.296-29C>T||||||,T|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|6/16|c.296-29C>T||||||,T|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|8/16|c.296-29C>T||||||,T|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|13/16|c.296-29C>T||||||,T|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|11/16|c.296-29C>T||||||,T|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|7/16|c.296-29C>T||||||,T|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|15/16|c.296-29C>T||||||,T|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|14/16|c.296-29C>T||||||,T|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|10/16|c.296-29C>T||||||,T|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|9/16|c.296-29C>T||||||,T|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|16/16|c.296-29C>T||||||,T|sequence_feature|LOW|GGT1|ENSG00000100031|turn|ENST00000248923|protein_coding|6/16|c.296-29C>T||||||,T|sequence_feature|LOW|GGT1|ENSG00000100031|turn|ENST00000248923|protein_coding|7/16|c.296-29C>T||||||,T|downstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000456869|protein_coding||c.*597C>T|||||3841|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000445029|protein_coding||c.*606C>T|||||198|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000438643|protein_coding||c.*537C>T|||||3820|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000412898|protein_coding||c.*831C>T|||||161|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000455483|protein_coding||c.*579C>T|||||108|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|6/15|c.296-29C>T||||||,T|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000411974|protein_coding|6/6|c.296-29C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000412658|protein_coding|6/13|c.296-29C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000419133|protein_coding|6/7|c.296-29C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000400382|protein_coding|6/15|c.296-29C>T||||||,T|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000452551|protein_coding|6/6|c.296-29C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000400383|protein_coding|6/15|c.296-29C>T||||||,T|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000400380|protein_coding|7/16|c.296-29C>T||||||,T|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000430289|protein_coding|7/7|c.296-29C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000447416|protein_coding|5/5|c.296-29C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000432867|protein_coding|6/6|c.296-29C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000451366|protein_coding|6/6|c.296-29C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000406383|protein_coding|6/15|c.296-29C>T||||||,T|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000428855|protein_coding|6/6|c.296-29C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000425895|nonsense_mediated_decay|5/14|n.296-29C>T||||||,T|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000474191|processed_transcript|2/3|n.338-29C>T||||||,T|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000487766|retained_intron|1/2|n.46-29C>T|||||| 22 25019903 . CCACTGTGGGTGTGGGG C . . ANN=|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|12/16|c.1020+21_1020+36delCACTGTGGGTGTGGGG||||||,|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|5/16|c.1020+21_1020+36delCACTGTGGGTGTGGGG||||||,|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|6/16|c.1020+21_1020+36delCACTGTGGGTGTGGGG||||||,|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|8/16|c.1020+21_1020+36delCACTGTGGGTGTGGGG||||||,|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|13/16|c.1020+21_1020+36delCACTGTGGGTGTGGGG||||||,|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|11/16|c.1020+21_1020+36delCACTGTGGGTGTGGGG||||||,|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|7/16|c.1020+21_1020+36delCACTGTGGGTGTGGGG||||||,|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|15/16|c.1020+21_1020+36delCACTGTGGGTGTGGGG||||||,|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|14/16|c.1020+21_1020+36delCACTGTGGGTGTGGGG||||||,|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|10/16|c.1020+21_1020+36delCACTGTGGGTGTGGGG||||||,|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|9/16|c.1020+21_1020+36delCACTGTGGGTGTGGGG||||||,|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|16/16|c.1020+21_1020+36delCACTGTGGGTGTGGGG||||||,|sequence_feature|LOW|GGT1|ENSG00000100031|helix|ENST00000248923|protein_coding|12/16|c.1020+21_1020+36delCACTGTGGGTGTGGGG||||||,|sequence_feature|LOW|GGT1|ENSG00000100031|helix|ENST00000248923|protein_coding|11/16|c.1020+21_1020+36delCACTGTGGGTGTGGGG||||||,|upstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000401885|protein_coding||c.-134_-134delCACTGTGGGTGTGGGG|||||3243|,|upstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000404532|protein_coding||c.-40_-40delCACTGTGGGTGTGGGG|||||3315|,|upstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000403838|protein_coding||c.-190_-190delCACTGTGGGTGTGGGG|||||3318|,|upstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000404223|protein_coding||c.-37_-37delCACTGTGGGTGTGGGG|||||3471|,|upstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000404920|protein_coding||c.-1_-1delCACTGTGGGTGTGGGG|||||3507|,|upstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000490087|processed_transcript||n.-1_-1delCACTGTGGGTGTGGGG|||||3939|,|downstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000419133|protein_coding||c.*1078_*1078delCACTGTGGGTGTGGGG|||||3469|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000487766|retained_intron||n.*638_*638delCACTGTGGGTGTGGGG|||||3104|,|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|11/15|c.1020+22_1020+37delACTGTGGGTGTGGGGC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000412658|protein_coding|11/13|c.1020+22_1020+37delACTGTGGGTGTGGGGC||||||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000400382|protein_coding|11/15|c.1020+22_1020+37delACTGTGGGTGTGGGGC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000400383|protein_coding|11/15|c.1020+22_1020+37delACTGTGGGTGTGGGGC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000400380|protein_coding|12/16|c.1020+22_1020+37delACTGTGGGTGTGGGGC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000406383|protein_coding|11/15|c.1020+22_1020+37delACTGTGGGTGTGGGGC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000425895|nonsense_mediated_decay|10/14|n.1020+22_1020+37delACTGTGGGTGTGGGGC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000466310|processed_transcript|3/7|n.400+22_400+37delACTGTGGGTGTGGGGC||||||INFO_REALIGN_3_PRIME 22 25019904 . CACTGTGGGTGTGGGG C . . ANN=|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|12/16|c.1020+22_1020+36delACTGTGGGTGTGGGG||||||,|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|5/16|c.1020+22_1020+36delACTGTGGGTGTGGGG||||||,|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|6/16|c.1020+22_1020+36delACTGTGGGTGTGGGG||||||,|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|8/16|c.1020+22_1020+36delACTGTGGGTGTGGGG||||||,|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|13/16|c.1020+22_1020+36delACTGTGGGTGTGGGG||||||,|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|11/16|c.1020+22_1020+36delACTGTGGGTGTGGGG||||||,|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|7/16|c.1020+22_1020+36delACTGTGGGTGTGGGG||||||,|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|15/16|c.1020+22_1020+36delACTGTGGGTGTGGGG||||||,|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|14/16|c.1020+22_1020+36delACTGTGGGTGTGGGG||||||,|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|10/16|c.1020+22_1020+36delACTGTGGGTGTGGGG||||||,|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|9/16|c.1020+22_1020+36delACTGTGGGTGTGGGG||||||,|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|16/16|c.1020+22_1020+36delACTGTGGGTGTGGGG||||||,|sequence_feature|LOW|GGT1|ENSG00000100031|helix|ENST00000248923|protein_coding|12/16|c.1020+22_1020+36delACTGTGGGTGTGGGG||||||,|sequence_feature|LOW|GGT1|ENSG00000100031|helix|ENST00000248923|protein_coding|11/16|c.1020+22_1020+36delACTGTGGGTGTGGGG||||||,|upstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000401885|protein_coding||c.-134_-134delACTGTGGGTGTGGGG|||||3242|,|upstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000404532|protein_coding||c.-40_-40delACTGTGGGTGTGGGG|||||3314|,|upstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000403838|protein_coding||c.-190_-190delACTGTGGGTGTGGGG|||||3317|,|upstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000404223|protein_coding||c.-37_-37delACTGTGGGTGTGGGG|||||3470|,|upstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000404920|protein_coding||c.-1_-1delACTGTGGGTGTGGGG|||||3506|,|upstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000490087|processed_transcript||n.-1_-1delACTGTGGGTGTGGGG|||||3938|,|downstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000419133|protein_coding||c.*1078_*1078delACTGTGGGTGTGGGG|||||3470|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000487766|retained_intron||n.*638_*638delACTGTGGGTGTGGGG|||||3105|,|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|11/15|c.1020+22_1020+36delACTGTGGGTGTGGGG||||||,|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000412658|protein_coding|11/13|c.1020+22_1020+36delACTGTGGGTGTGGGG||||||WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000400382|protein_coding|11/15|c.1020+22_1020+36delACTGTGGGTGTGGGG||||||,|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000400383|protein_coding|11/15|c.1020+22_1020+36delACTGTGGGTGTGGGG||||||,|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000400380|protein_coding|12/16|c.1020+22_1020+36delACTGTGGGTGTGGGG||||||,|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000406383|protein_coding|11/15|c.1020+22_1020+36delACTGTGGGTGTGGGG||||||,|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000425895|nonsense_mediated_decay|10/14|n.1020+22_1020+36delACTGTGGGTGTGGGG||||||,|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000466310|processed_transcript|3/7|n.400+22_400+36delACTGTGGGTGTGGGG|||||| 22 25019919 . G GC,GCC,GGC . . ANN=C|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|12/16|c.1020+36_1020+37insC||||||,C|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|5/16|c.1020+36_1020+37insC||||||,C|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|6/16|c.1020+36_1020+37insC||||||,C|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|8/16|c.1020+36_1020+37insC||||||,C|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|13/16|c.1020+36_1020+37insC||||||,C|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|11/16|c.1020+36_1020+37insC||||||,C|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|7/16|c.1020+36_1020+37insC||||||,C|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|15/16|c.1020+36_1020+37insC||||||,C|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|14/16|c.1020+36_1020+37insC||||||,C|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|10/16|c.1020+36_1020+37insC||||||,C|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|9/16|c.1020+36_1020+37insC||||||,C|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|16/16|c.1020+36_1020+37insC||||||,CC|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|12/16|c.1020+36_1020+37insCC||||||,CC|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|5/16|c.1020+36_1020+37insCC||||||,CC|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|6/16|c.1020+36_1020+37insCC||||||,CC|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|8/16|c.1020+36_1020+37insCC||||||,CC|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|13/16|c.1020+36_1020+37insCC||||||,CC|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|11/16|c.1020+36_1020+37insCC||||||,CC|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|7/16|c.1020+36_1020+37insCC||||||,CC|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|15/16|c.1020+36_1020+37insCC||||||,CC|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|14/16|c.1020+36_1020+37insCC||||||,CC|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|10/16|c.1020+36_1020+37insCC||||||,CC|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|9/16|c.1020+36_1020+37insCC||||||,CC|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|16/16|c.1020+36_1020+37insCC||||||,GC|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|12/16|c.1020+36_1020+37insGC||||||,GC|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|5/16|c.1020+36_1020+37insGC||||||,GC|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|6/16|c.1020+36_1020+37insGC||||||,GC|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|8/16|c.1020+36_1020+37insGC||||||,GC|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|13/16|c.1020+36_1020+37insGC||||||,GC|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|11/16|c.1020+36_1020+37insGC||||||,GC|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|7/16|c.1020+36_1020+37insGC||||||,GC|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|15/16|c.1020+36_1020+37insGC||||||,GC|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|14/16|c.1020+36_1020+37insGC||||||,GC|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|10/16|c.1020+36_1020+37insGC||||||,GC|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|9/16|c.1020+36_1020+37insGC||||||,GC|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|16/16|c.1020+36_1020+37insGC||||||,C|sequence_feature|LOW|GGT1|ENSG00000100031|helix|ENST00000248923|protein_coding|12/16|c.1020+36_1020+37insC||||||,C|sequence_feature|LOW|GGT1|ENSG00000100031|helix|ENST00000248923|protein_coding|11/16|c.1020+36_1020+37insC||||||,CC|sequence_feature|LOW|GGT1|ENSG00000100031|helix|ENST00000248923|protein_coding|12/16|c.1020+36_1020+37insCC||||||,CC|sequence_feature|LOW|GGT1|ENSG00000100031|helix|ENST00000248923|protein_coding|11/16|c.1020+36_1020+37insCC||||||,GC|sequence_feature|LOW|GGT1|ENSG00000100031|helix|ENST00000248923|protein_coding|12/16|c.1020+36_1020+37insGC||||||,GC|sequence_feature|LOW|GGT1|ENSG00000100031|helix|ENST00000248923|protein_coding|11/16|c.1020+36_1020+37insGC||||||,C|upstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000401885|protein_coding||c.-134_-134insC|||||3227|,CC|upstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000401885|protein_coding||c.-134_-134insCC|||||3227|,GC|upstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000401885|protein_coding||c.-134_-134insGC|||||3227|,C|upstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000404532|protein_coding||c.-40_-40insC|||||3299|,CC|upstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000404532|protein_coding||c.-40_-40insCC|||||3299|,GC|upstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000404532|protein_coding||c.-40_-40insGC|||||3299|,C|upstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000403838|protein_coding||c.-190_-190insC|||||3302|,CC|upstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000403838|protein_coding||c.-190_-190insCC|||||3302|,GC|upstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000403838|protein_coding||c.-190_-190insGC|||||3302|,C|upstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000404223|protein_coding||c.-37_-37insC|||||3455|,CC|upstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000404223|protein_coding||c.-37_-37insCC|||||3455|,GC|upstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000404223|protein_coding||c.-37_-37insGC|||||3455|,C|upstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000404920|protein_coding||c.-1_-1insC|||||3491|,CC|upstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000404920|protein_coding||c.-1_-1insCC|||||3491|,GC|upstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000404920|protein_coding||c.-1_-1insGC|||||3491|,C|upstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000490087|processed_transcript||n.-1_-1insC|||||3923|,CC|upstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000490087|processed_transcript||n.-1_-1insCC|||||3923|,GC|upstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000490087|processed_transcript||n.-1_-1insGC|||||3923|,C|downstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000419133|protein_coding||c.*1078_*1078insC|||||3485|WARNING_TRANSCRIPT_INCOMPLETE,CC|downstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000419133|protein_coding||c.*1078_*1078insCC|||||3485|WARNING_TRANSCRIPT_INCOMPLETE,GC|downstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000419133|protein_coding||c.*1078_*1078insGC|||||3485|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000487766|retained_intron||n.*638_*638insC|||||3120|,CC|downstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000487766|retained_intron||n.*638_*638insCC|||||3120|,GC|downstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000487766|retained_intron||n.*638_*638insGC|||||3120|,GC|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|11/15|c.1020+36_1020+37insGC||||||,C|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|11/15|c.1020+38dupC||||||INFO_REALIGN_3_PRIME,CC|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|11/15|c.1020+37_1020+38dupCC||||||INFO_REALIGN_3_PRIME,GC|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000412658|protein_coding|11/13|c.1020+36_1020+37insGC||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000412658|protein_coding|11/13|c.1020+38dupC||||||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME,CC|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000412658|protein_coding|11/13|c.1020+37_1020+38dupCC||||||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME,GC|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000400382|protein_coding|11/15|c.1020+36_1020+37insGC||||||,C|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000400382|protein_coding|11/15|c.1020+38dupC||||||INFO_REALIGN_3_PRIME,CC|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000400382|protein_coding|11/15|c.1020+37_1020+38dupCC||||||INFO_REALIGN_3_PRIME,GC|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000400383|protein_coding|11/15|c.1020+36_1020+37insGC||||||,C|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000400383|protein_coding|11/15|c.1020+38dupC||||||INFO_REALIGN_3_PRIME,CC|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000400383|protein_coding|11/15|c.1020+37_1020+38dupCC||||||INFO_REALIGN_3_PRIME,GC|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000400380|protein_coding|12/16|c.1020+36_1020+37insGC||||||,C|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000400380|protein_coding|12/16|c.1020+38dupC||||||INFO_REALIGN_3_PRIME,CC|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000400380|protein_coding|12/16|c.1020+37_1020+38dupCC||||||INFO_REALIGN_3_PRIME,GC|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000406383|protein_coding|11/15|c.1020+36_1020+37insGC||||||,C|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000406383|protein_coding|11/15|c.1020+38dupC||||||INFO_REALIGN_3_PRIME,CC|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000406383|protein_coding|11/15|c.1020+37_1020+38dupCC||||||INFO_REALIGN_3_PRIME,GC|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000425895|nonsense_mediated_decay|10/14|n.1020+36_1020+37insGC||||||,C|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000425895|nonsense_mediated_decay|10/14|n.1020+38dupC||||||INFO_REALIGN_3_PRIME,CC|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000425895|nonsense_mediated_decay|10/14|n.1020+37_1020+38dupCC||||||INFO_REALIGN_3_PRIME,GC|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000466310|processed_transcript|3/7|n.400+36_400+37insGC||||||,C|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000466310|processed_transcript|3/7|n.400+38dupC||||||INFO_REALIGN_3_PRIME,CC|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000466310|processed_transcript|3/7|n.400+37_400+38dupCC||||||INFO_REALIGN_3_PRIME 22 25023367 . ACCT A . . ANN=|splice_region_variant&intron_variant|LOW|GGT1|ENSG00000100031|transcript|ENST00000425895|nonsense_mediated_decay|10/14|n.1021-5_1021-3delCTC||||||INFO_REALIGN_3_PRIME,|splice_region_variant&intron_variant|LOW|GGT1|ENSG00000100031|transcript|ENST00000466310|processed_transcript|3/7|n.401-5_401-3delCTC||||||INFO_REALIGN_3_PRIME,|splice_region_variant&intron_variant|LOW|GGT1|ENSG00000100031|transcript|ENST00000401885|protein_coding|1/5|c.-34-5_-34-3delCTC||||||INFO_REALIGN_3_PRIME,|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|12/16|c.1021-31_1021-29delCCT||||||,|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|5/16|c.1021-31_1021-29delCCT||||||,|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|6/16|c.1021-31_1021-29delCCT||||||,|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|8/16|c.1021-31_1021-29delCCT||||||,|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|13/16|c.1021-31_1021-29delCCT||||||,|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|11/16|c.1021-31_1021-29delCCT||||||,|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|7/16|c.1021-31_1021-29delCCT||||||,|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|15/16|c.1021-31_1021-29delCCT||||||,|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|14/16|c.1021-31_1021-29delCCT||||||,|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|10/16|c.1021-31_1021-29delCCT||||||,|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|9/16|c.1021-31_1021-29delCCT||||||,|sequence_feature|LOW|GGT1|ENSG00000100031|topological_domain:Extracellular|ENST00000248923|protein_coding|16/16|c.1021-31_1021-29delCCT||||||,|sequence_feature|LOW|GGT1|ENSG00000100031|helix|ENST00000248923|protein_coding|12/16|c.1021-31_1021-29delCCT||||||,|sequence_feature|LOW|GGT1|ENSG00000100031|helix|ENST00000248923|protein_coding|11/16|c.1021-31_1021-29delCCT||||||,|5_prime_UTR_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000403838|protein_coding|1/5|c.-39_-37delCTC|||||37|INFO_REALIGN_3_PRIME,|upstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000404223|protein_coding||c.-37_-37delCCT|||||7|,|upstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000404920|protein_coding||c.-1_-1delCCT|||||43|,|upstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000490087|processed_transcript||n.-1_-1delCCT|||||475|,|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|11/15|c.1021-27_1021-25delCTC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000412658|protein_coding|11/13|c.1021-27_1021-25delCTC||||||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000400382|protein_coding|11/15|c.1021-27_1021-25delCTC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000400383|protein_coding|11/15|c.1021-27_1021-25delCTC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000400380|protein_coding|12/16|c.1021-27_1021-25delCTC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000406383|protein_coding|11/15|c.1021-27_1021-25delCTC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000404532|protein_coding|1/5|c.-12-27_-12-25delCTC||||||INFO_REALIGN_3_PRIME 22 25024850 . TACTC T . . ANN=|3_prime_UTR_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|16/16|c.*47_*50delTCAC|||||47|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000400382|protein_coding|16/16|c.*47_*50delTCAC|||||47|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000400383|protein_coding|16/16|c.*47_*50delTCAC|||||47|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000400380|protein_coding|17/17|c.*47_*50delTCAC|||||47|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000406383|protein_coding|16/16|c.*47_*50delTCAC|||||47|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000425895|nonsense_mediated_decay|15/15|n.*678_*681delTCAC|||||1396|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000401885|protein_coding|6/6|c.*47_*50delTCAC|||||47|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000404532|protein_coding|6/6|c.*47_*50delTCAC|||||47|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000403838|protein_coding|5/5|c.*47_*50delTCAC|||||47|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000404223|protein_coding|4/4|c.*47_*50delTCAC|||||47|INFO_REALIGN_3_PRIME,|upstream_gene_variant|MODIFIER|BCRP3|ENSG00000215481|transcript|ENST00000447261|unprocessed_pseudogene||n.-1_-1delACTC|||||4031|,|downstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000412658|protein_coding||c.*2091_*2091delACTC|||||750|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000404920|protein_coding||c.*657_*657delACTC|||||45|,|non_coding_exon_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000425895|nonsense_mediated_decay|15/15|n.*678_*681delTCAC||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000466310|processed_transcript|8/8|n.1159_1162delTCAC||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000490087|processed_transcript|3/3|n.448_451delTCAC||||||INFO_REALIGN_3_PRIME 22 25115424 . GTCT G . . ANN=|3_prime_UTR_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|21/21|c.*12_*14delAGA|||||12|,|3_prime_UTR_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|22/22|c.*12_*14delAGA|||||12|,|3_prime_UTR_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|22/22|c.*12_*14delAGA|||||12|,|downstream_gene_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript||n.*3043_*3043delAGA|||||14| 22 25115449 . A G . . ANN=G|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|21/21|c.2639T>C|p.Phe880Ser|3056/3504|2639/2649|880/882||,G|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|22/22|c.2285T>C|p.Phe762Ser|2873/3105|2285/2295|762/764||,G|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|22/22|c.2285T>C|p.Phe762Ser|3000/3232|2285/2295|762/764||,G|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|21/21|n.3033T>C|||||| 22 25115456 . G A . . ANN=A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|21/21|c.2632C>T|p.Arg878Cys|3049/3504|2632/2649|878/882||,A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|22/22|c.2278C>T|p.Arg760Cys|2866/3105|2278/2295|760/764||,A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|22/22|c.2278C>T|p.Arg760Cys|2993/3232|2278/2295|760/764||,A|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|21/21|n.3026C>T|||||| 22 25115459 . T G . . ANN=G|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|21/21|c.2629A>C|p.Thr877Pro|3046/3504|2629/2649|877/882||,G|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|22/22|c.2275A>C|p.Thr759Pro|2863/3105|2275/2295|759/764||,G|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|22/22|c.2275A>C|p.Thr759Pro|2990/3232|2275/2295|759/764||,G|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|21/21|n.3023A>C|||||| 22 25115475 . C T . . ANN=T|synonymous_variant|LOW|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|21/21|c.2613G>A|p.Pro871Pro|3030/3504|2613/2649|871/882||,T|synonymous_variant|LOW|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|22/22|c.2259G>A|p.Pro753Pro|2847/3105|2259/2295|753/764||,T|synonymous_variant|LOW|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|22/22|c.2259G>A|p.Pro753Pro|2974/3232|2259/2295|753/764||,T|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|21/21|n.3007G>A|||||| 22 25115524 . T C . . ANN=C|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|21/21|c.2564A>G|p.Tyr855Cys|2981/3504|2564/2649|855/882||,C|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|22/22|c.2210A>G|p.Tyr737Cys|2798/3105|2210/2295|737/764||,C|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|22/22|c.2210A>G|p.Tyr737Cys|2925/3232|2210/2295|737/764||,C|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|18/21|c.2564A>G||||||,C|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|17/21|c.2564A>G||||||,C|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|15/21|c.2564A>G||||||,C|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|16/21|c.2564A>G||||||,C|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|19/21|c.2564A>G||||||,C|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|20/21|c.2564A>G||||||,C|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|21/21|c.2564A>G||||||,C|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|21/21|n.2958A>G|||||| 22 25115717 . G A . . ANN=A|missense_variant&splice_region_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|20/21|c.2530C>T|p.Pro844Ser|2947/3504|2530/2649|844/882||,A|missense_variant&splice_region_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|21/22|c.2176C>T|p.Pro726Ser|2764/3105|2176/2295|726/764||,A|missense_variant&splice_region_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|21/22|c.2176C>T|p.Pro726Ser|2891/3232|2176/2295|726/764||,A|splice_region_variant&non_coding_exon_variant|LOW|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|20/21|n.2924C>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|18/21|c.2530C>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|17/21|c.2530C>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|15/21|c.2530C>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|16/21|c.2530C>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|19/21|c.2530C>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|20/21|c.2530C>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|21/21|c.2530C>T|||||| 22 25115747 . A G . . ANN=G|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|20/21|c.2500T>C|p.Tyr834His|2917/3504|2500/2649|834/882||,G|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|21/22|c.2146T>C|p.Tyr716His|2734/3105|2146/2295|716/764||,G|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|21/22|c.2146T>C|p.Tyr716His|2861/3232|2146/2295|716/764||,G|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|18/21|c.2500T>C||||||,G|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|17/21|c.2500T>C||||||,G|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|15/21|c.2500T>C||||||,G|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|16/21|c.2500T>C||||||,G|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|19/21|c.2500T>C||||||,G|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|20/21|c.2500T>C||||||,G|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|21/21|c.2500T>C||||||,G|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|20/21|n.2894T>C|||||| 22 25115749 . G A . . ANN=A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|20/21|c.2498C>T|p.Thr833Ile|2915/3504|2498/2649|833/882||,A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|21/22|c.2144C>T|p.Thr715Ile|2732/3105|2144/2295|715/764||,A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|21/22|c.2144C>T|p.Thr715Ile|2859/3232|2144/2295|715/764||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|18/21|c.2498C>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|17/21|c.2498C>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|15/21|c.2498C>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|16/21|c.2498C>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|19/21|c.2498C>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|20/21|c.2498C>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|21/21|c.2498C>T||||||,A|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|20/21|n.2892C>T|||||| 22 25115799 . G A . . ANN=A|synonymous_variant|LOW|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|20/21|c.2448C>T|p.Asn816Asn|2865/3504|2448/2649|816/882||,A|synonymous_variant|LOW|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|21/22|c.2094C>T|p.Asn698Asn|2682/3105|2094/2295|698/764||,A|synonymous_variant|LOW|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|21/22|c.2094C>T|p.Asn698Asn|2809/3232|2094/2295|698/764||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|18/21|c.2448C>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|17/21|c.2448C>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|15/21|c.2448C>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|16/21|c.2448C>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|19/21|c.2448C>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|20/21|c.2448C>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|21/21|c.2448C>T||||||,A|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|20/21|n.2842C>T|||||| 22 25115814 . G A . . ANN=A|synonymous_variant|LOW|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|20/21|c.2433C>T|p.Thr811Thr|2850/3504|2433/2649|811/882||,A|synonymous_variant|LOW|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|21/22|c.2079C>T|p.Thr693Thr|2667/3105|2079/2295|693/764||,A|synonymous_variant|LOW|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|21/22|c.2079C>T|p.Thr693Thr|2794/3232|2079/2295|693/764||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|18/21|c.2433C>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|17/21|c.2433C>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|15/21|c.2433C>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|16/21|c.2433C>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|19/21|c.2433C>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|20/21|c.2433C>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|21/21|c.2433C>T||||||,A|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|20/21|n.2827C>T|||||| 22 25119062 . C T . . ANN=T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|18/21|c.2384+35G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|17/21|c.2384+35G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|15/21|c.2384+35G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|16/21|c.2384+35G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|19/21|c.2384+35G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|20/21|c.2384+35G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|21/21|c.2384+35G>A||||||,T|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|19/20|c.2384+35G>A||||||,T|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|20/21|c.2030+35G>A||||||,T|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|20/21|c.2030+35G>A||||||,T|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|19/20|n.2778+35G>A|||||| 22 25119070 . C G . . ANN=G|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|18/21|c.2384+27G>C||||||,G|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|17/21|c.2384+27G>C||||||,G|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|15/21|c.2384+27G>C||||||,G|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|16/21|c.2384+27G>C||||||,G|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|19/21|c.2384+27G>C||||||,G|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|20/21|c.2384+27G>C||||||,G|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|21/21|c.2384+27G>C||||||,G|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|19/20|c.2384+27G>C||||||,G|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|20/21|c.2030+27G>C||||||,G|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|20/21|c.2030+27G>C||||||,G|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|19/20|n.2778+27G>C|||||| 22 25119120 . A G . . ANN=G|synonymous_variant|LOW|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|19/21|c.2361T>C|p.Asp787Asp|2778/3504|2361/2649|787/882||,G|synonymous_variant|LOW|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|20/22|c.2007T>C|p.Asp669Asp|2595/3105|2007/2295|669/764||,G|synonymous_variant|LOW|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|20/22|c.2007T>C|p.Asp669Asp|2722/3232|2007/2295|669/764||,G|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|18/21|c.2361T>C||||||,G|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|17/21|c.2361T>C||||||,G|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|15/21|c.2361T>C||||||,G|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|16/21|c.2361T>C||||||,G|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|19/21|c.2361T>C||||||,G|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|20/21|c.2361T>C||||||,G|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|21/21|c.2361T>C||||||,G|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|19/21|n.2755T>C|||||| 22 25119191 . G A . . ANN=A|stop_gained|HIGH|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|19/21|c.2290C>T|p.Arg764*|2707/3504|2290/2649|764/882||,A|stop_gained|HIGH|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|20/22|c.1936C>T|p.Arg646*|2524/3105|1936/2295|646/764||,A|stop_gained|HIGH|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|20/22|c.1936C>T|p.Arg646*|2651/3232|1936/2295|646/764||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|18/21|c.2290C>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|17/21|c.2290C>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|15/21|c.2290C>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|16/21|c.2290C>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|19/21|c.2290C>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|20/21|c.2290C>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|21/21|c.2290C>T||||||,A|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|19/21|n.2684C>T||||||;LOF=(PIWIL3|ENSG00000184571|4|0.75);NMD=(PIWIL3|ENSG00000184571|4|0.75) 22 25119210 . A C . . ANN=C|synonymous_variant|LOW|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|19/21|c.2271T>G|p.Ala757Ala|2688/3504|2271/2649|757/882||,C|synonymous_variant|LOW|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|20/22|c.1917T>G|p.Ala639Ala|2505/3105|1917/2295|639/764||,C|synonymous_variant|LOW|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|20/22|c.1917T>G|p.Ala639Ala|2632/3232|1917/2295|639/764||,C|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|18/21|c.2271T>G||||||,C|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|17/21|c.2271T>G||||||,C|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|15/21|c.2271T>G||||||,C|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|16/21|c.2271T>G||||||,C|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|19/21|c.2271T>G||||||,C|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|20/21|c.2271T>G||||||,C|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|21/21|c.2271T>G||||||,C|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|19/21|n.2665T>G|||||| 22 25120883 . C T . . ANN=T|synonymous_variant|LOW|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|18/21|c.2229G>A|p.Ser743Ser|2646/3504|2229/2649|743/882||,T|synonymous_variant|LOW|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|19/22|c.1875G>A|p.Ser625Ser|2463/3105|1875/2295|625/764||,T|synonymous_variant|LOW|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|19/22|c.1875G>A|p.Ser625Ser|2590/3232|1875/2295|625/764||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|18/21|c.2229G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|17/21|c.2229G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|15/21|c.2229G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|16/21|c.2229G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|19/21|c.2229G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|20/21|c.2229G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|21/21|c.2229G>A||||||,T|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|18/21|n.2623G>A|||||| 22 25121376 . T C . . ANN=C|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|18/21|c.2107+36A>G||||||,C|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|17/21|c.2107+36A>G||||||,C|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|15/21|c.2107+36A>G||||||,C|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|16/21|c.2107+36A>G||||||,C|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|19/21|c.2107+36A>G||||||,C|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|20/21|c.2107+36A>G||||||,C|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|21/21|c.2107+36A>G||||||,C|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|17/20|c.2107+36A>G||||||,C|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|18/21|c.1753+36A>G||||||,C|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|18/21|c.1753+36A>G||||||,C|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|17/20|n.2501+36A>G|||||| 22 25121409 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|17/20|c.2107+3C>T||||||,A|splice_region_variant&intron_variant|LOW|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|18/21|c.1753+3C>T||||||,A|splice_region_variant&intron_variant|LOW|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|18/21|c.1753+3C>T||||||,A|splice_region_variant&intron_variant|LOW|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|17/20|n.2501+3C>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|18/21|c.2107+3C>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|17/21|c.2107+3C>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|15/21|c.2107+3C>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|16/21|c.2107+3C>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|19/21|c.2107+3C>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|20/21|c.2107+3C>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|21/21|c.2107+3C>T|||||| 22 25121428 . C T . . ANN=T|synonymous_variant|LOW|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|17/21|c.2091G>A|p.Leu697Leu|2508/3504|2091/2649|697/882||,T|synonymous_variant|LOW|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|18/22|c.1737G>A|p.Leu579Leu|2325/3105|1737/2295|579/764||,T|synonymous_variant|LOW|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|18/22|c.1737G>A|p.Leu579Leu|2452/3232|1737/2295|579/764||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|18/21|c.2091G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|17/21|c.2091G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|15/21|c.2091G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|16/21|c.2091G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|19/21|c.2091G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|20/21|c.2091G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|21/21|c.2091G>A||||||,T|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|17/21|n.2485G>A|||||| 22 25121518 . A G . . ANN=G|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|18/21|c.2037-36T>C||||||,G|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|17/21|c.2037-36T>C||||||,G|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|15/21|c.2037-36T>C||||||,G|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|16/21|c.2037-36T>C||||||,G|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|19/21|c.2037-36T>C||||||,G|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|20/21|c.2037-36T>C||||||,G|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|21/21|c.2037-36T>C||||||,G|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|16/20|c.2037-36T>C||||||,G|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|17/21|c.1683-36T>C||||||,G|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|17/21|c.1683-36T>C||||||,G|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|16/20|n.2431-36T>C|||||| 22 25123900 . T C . . ANN=C|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|18/21|c.2036+17A>G||||||,C|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|17/21|c.2036+17A>G||||||,C|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|15/21|c.2036+17A>G||||||,C|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|16/21|c.2036+17A>G||||||,C|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|19/21|c.2036+17A>G||||||,C|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|20/21|c.2036+17A>G||||||,C|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|21/21|c.2036+17A>G||||||,C|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|16/20|c.2036+17A>G||||||,C|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|17/21|c.1682+17A>G||||||,C|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|17/21|c.1682+17A>G||||||,C|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|16/20|n.2430+17A>G|||||| 22 25123975 . C T . . ANN=T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|16/21|c.1978G>A|p.Val660Ile|2395/3504|1978/2649|660/882||,T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|17/22|c.1624G>A|p.Val542Ile|2212/3105|1624/2295|542/764||,T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|17/22|c.1624G>A|p.Val542Ile|2339/3232|1624/2295|542/764||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|18/21|c.1978G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|17/21|c.1978G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|15/21|c.1978G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|16/21|c.1978G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|19/21|c.1978G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|20/21|c.1978G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|21/21|c.1978G>A||||||,T|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|16/21|n.2372G>A|||||| 22 25124021 . CTTAAGT C . . ANN=|splice_acceptor_variant&splice_region_variant&intron_variant|HIGH|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|15/20|c.1933-7_1933-2delACTTAA||||||,|splice_acceptor_variant&splice_region_variant&intron_variant|HIGH|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|16/21|c.1579-7_1579-2delACTTAA||||||,|splice_acceptor_variant&splice_region_variant&intron_variant|HIGH|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|16/21|c.1579-7_1579-2delACTTAA||||||,|splice_acceptor_variant&splice_region_variant&intron_variant|HIGH|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|15/20|n.2327-7_2327-2delACTTAA||||||,|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|18/21|c.1933-7_1933-2delACTTAA||||||,|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|17/21|c.1933-7_1933-2delACTTAA||||||,|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|15/21|c.1933-7_1933-2delACTTAA||||||,|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|16/21|c.1933-7_1933-2delACTTAA||||||,|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|19/21|c.1933-7_1933-2delACTTAA||||||,|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|20/21|c.1933-7_1933-2delACTTAA||||||,|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|21/21|c.1933-7_1933-2delACTTAA||||||;LOF=(PIWIL3|ENSG00000184571|4|0.75) 22 25124095 . C T . . ANN=T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|18/21|c.1932+49G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|17/21|c.1932+49G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|15/21|c.1932+49G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|16/21|c.1932+49G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|19/21|c.1932+49G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|20/21|c.1932+49G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|21/21|c.1932+49G>A||||||,T|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|15/20|c.1932+49G>A||||||,T|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|16/21|c.1578+49G>A||||||,T|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|16/21|c.1578+49G>A||||||,T|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|15/20|n.2326+49G>A|||||| 22 25124143 . C T . . ANN=T|splice_donor_variant&intron_variant|HIGH|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|15/20|c.1932+1G>A||||||,T|splice_donor_variant&intron_variant|HIGH|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|16/21|c.1578+1G>A||||||,T|splice_donor_variant&intron_variant|HIGH|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|16/21|c.1578+1G>A||||||,T|splice_donor_variant&intron_variant|HIGH|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|15/20|n.2326+1G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|18/21|c.1932+1G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|17/21|c.1932+1G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|15/21|c.1932+1G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|16/21|c.1932+1G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|19/21|c.1932+1G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|20/21|c.1932+1G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|21/21|c.1932+1G>A||||||;LOF=(PIWIL3|ENSG00000184571|4|0.75) 22 25124155 . C T . . ANN=T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|15/21|c.1921G>A|p.Val641Met|2338/3504|1921/2649|641/882||,T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|16/22|c.1567G>A|p.Val523Met|2155/3105|1567/2295|523/764||,T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|16/22|c.1567G>A|p.Val523Met|2282/3232|1567/2295|523/764||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|18/21|c.1921G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|17/21|c.1921G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|15/21|c.1921G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|16/21|c.1921G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|19/21|c.1921G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|20/21|c.1921G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|21/21|c.1921G>A||||||,T|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|15/21|n.2315G>A|||||| 22 25124413 . G A . . ANN=A|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|14/20|c.1708-45C>T||||||,A|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|15/21|c.1381-72C>T||||||,A|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|15/21|c.1381-72C>T||||||,A|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|14/20|n.2129-72C>T|||||| 22 25124414 . C A . . ANN=A|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|14/20|c.1708-46G>T||||||,A|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|15/21|c.1381-73G>T||||||,A|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|15/21|c.1381-73G>T||||||,A|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|14/20|n.2129-73G>T|||||| 22 25130024 . T C . . ANN=C|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|14/20|c.1707+27A>G||||||,C|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|15/21|c.1380+27A>G||||||,C|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|15/21|c.1380+27A>G||||||,C|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|14/20|n.2128+27A>G|||||| 22 25130050 . C A . . ANN=A|splice_donor_variant&intron_variant|HIGH|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|14/20|c.1707+1G>T||||||,A|splice_donor_variant&intron_variant|HIGH|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|15/21|c.1380+1G>T||||||,A|splice_donor_variant&intron_variant|HIGH|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|15/21|c.1380+1G>T||||||,A|splice_donor_variant&intron_variant|HIGH|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|14/20|n.2128+1G>T||||||;LOF=(PIWIL3|ENSG00000184571|4|0.75) 22 25130068 . T C . . ANN=C|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|14/21|c.1690A>G|p.Arg564Gly|2107/3504|1690/2649|564/882||,C|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|15/22|c.1363A>G|p.Arg455Gly|1951/3105|1363/2295|455/764||,C|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|15/22|c.1363A>G|p.Arg455Gly|2078/3232|1363/2295|455/764||,C|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|14/21|n.2111A>G|||||| 22 25130085 . G A . . ANN=A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|14/21|c.1673C>T|p.Thr558Ile|2090/3504|1673/2649|558/882||,A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|15/22|c.1346C>T|p.Thr449Ile|1934/3105|1346/2295|449/764||,A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|15/22|c.1346C>T|p.Thr449Ile|2061/3232|1346/2295|449/764||,A|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|14/21|n.2094C>T|||||| 22 25130156 . G A . . ANN=A|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|13/20|c.1635-33C>T||||||,A|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|14/21|c.1308-33C>T||||||,A|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|14/21|c.1308-33C>T||||||,A|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|13/20|n.2056-33C>T|||||| 22 25130158 . T C . . ANN=C|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|13/20|c.1635-35A>G||||||,C|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|14/21|c.1308-35A>G||||||,C|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|14/21|c.1308-35A>G||||||,C|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|13/20|n.2056-35A>G|||||| 22 25130160 . C G . . ANN=G|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|13/20|c.1635-37G>C||||||,G|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|14/21|c.1308-37G>C||||||,G|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|14/21|c.1308-37G>C||||||,G|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|13/20|n.2056-37G>C|||||| 22 25131837 . T C . . ANN=C|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|13/21|c.1472A>G|p.Asp491Gly|1889/3504|1472/2649|491/882||,C|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|14/22|c.1145A>G|p.Asp382Gly|1733/3105|1145/2295|382/764||,C|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|14/22|c.1145A>G|p.Asp382Gly|1860/3232|1145/2295|382/764||,C|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|13/21|n.1893A>G|||||| 22 25144846 . T C . . ANN=C|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|12/20|c.1449+28A>G||||||,C|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|13/21|c.1122+28A>G||||||,C|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|13/21|c.1122+28A>G||||||,C|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|12/20|n.1870+28A>G|||||| 22 25144912 . C T . . ANN=T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|12/21|c.1411G>A|p.Val471Ile|1828/3504|1411/2649|471/882||,T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|13/22|c.1084G>A|p.Val362Ile|1672/3105|1084/2295|362/764||,T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|13/22|c.1084G>A|p.Val362Ile|1799/3232|1084/2295|362/764||,T|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|12/21|n.1832G>A|||||| 22 25144996 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|11/20|c.1335-8A>G||||||,C|splice_region_variant&intron_variant|LOW|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|12/21|c.1008-8A>G||||||,C|splice_region_variant&intron_variant|LOW|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|12/21|c.1008-8A>G||||||,C|splice_region_variant&intron_variant|LOW|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|11/20|n.1756-8A>G|||||| 22 25145331 . T C . . ANN=C|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|11/20|c.1334+40A>G||||||,C|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|12/21|c.1007+40A>G||||||,C|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|12/21|c.1007+40A>G||||||,C|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|11/20|n.1755+40A>G|||||| 22 25145393 . C A . . ANN=A|stop_gained|HIGH|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|11/21|c.1312G>T|p.Glu438*|1729/3504|1312/2649|438/882||,A|stop_gained|HIGH|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|12/22|c.985G>T|p.Glu329*|1573/3105|985/2295|329/764||,A|stop_gained|HIGH|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|12/22|c.985G>T|p.Glu329*|1700/3232|985/2295|329/764||,A|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|11/21|n.1733G>T||||||;LOF=(PIWIL3|ENSG00000184571|4|0.75);NMD=(PIWIL3|ENSG00000184571|4|0.75) 22 25145453 . C T . . ANN=T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|11/21|c.1252G>A|p.Val418Met|1669/3504|1252/2649|418/882||,T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|12/22|c.925G>A|p.Val309Met|1513/3105|925/2295|309/764||,T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|12/22|c.925G>A|p.Val309Met|1640/3232|925/2295|309/764||,T|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|11/21|n.1673G>A|||||| 22 25145471 . A G . . ANN=G|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|11/21|c.1234T>C|p.Cys412Arg|1651/3504|1234/2649|412/882||,G|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|12/22|c.907T>C|p.Cys303Arg|1495/3105|907/2295|303/764||,G|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|12/22|c.907T>C|p.Cys303Arg|1622/3232|907/2295|303/764||,G|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|11/21|n.1655T>C|||||| 22 25145501 . C T . . ANN=T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|10/21|c.1217-13G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|9/21|c.1217-13G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|8/21|c.1217-13G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|11/21|c.1217-13G>A||||||,T|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|10/20|c.1217-13G>A||||||,T|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|11/21|c.890-13G>A||||||,T|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|11/21|c.890-13G>A||||||,T|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|10/20|n.1638-13G>A|||||| 22 25145511 . C A . . ANN=A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|10/21|c.1217-23G>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|9/21|c.1217-23G>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|8/21|c.1217-23G>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|11/21|c.1217-23G>T||||||,A|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|10/20|c.1217-23G>T||||||,A|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|11/21|c.890-23G>T||||||,A|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|11/21|c.890-23G>T||||||,A|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|10/20|n.1638-23G>T|||||| 22 25145631 . T A . . ANN=A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|10/21|c.1216+29A>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|9/21|c.1216+29A>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|8/21|c.1216+29A>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|11/21|c.1216+29A>T||||||,A|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|10/20|c.1216+29A>T||||||,A|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|11/21|c.889+29A>T||||||,A|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|11/21|c.889+29A>T||||||,A|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|10/20|n.1637+29A>T|||||| 22 25145676 . C T . . ANN=T|synonymous_variant|LOW|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|10/21|c.1200G>A|p.Gln400Gln|1617/3504|1200/2649|400/882||,T|synonymous_variant|LOW|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|11/22|c.873G>A|p.Gln291Gln|1461/3105|873/2295|291/764||,T|synonymous_variant|LOW|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|11/22|c.873G>A|p.Gln291Gln|1588/3232|873/2295|291/764||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|10/21|c.1200G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|9/21|c.1200G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|8/21|c.1200G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|11/21|c.1200G>A||||||,T|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|10/21|n.1621G>A|||||| 22 25145713 . G A . . ANN=A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|10/21|c.1163C>T|p.Thr388Met|1580/3504|1163/2649|388/882||,A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|11/22|c.836C>T|p.Thr279Met|1424/3105|836/2295|279/764||,A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|11/22|c.836C>T|p.Thr279Met|1551/3232|836/2295|279/764||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|10/21|c.1163C>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|9/21|c.1163C>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|8/21|c.1163C>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|11/21|c.1163C>T||||||,A|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|10/21|n.1584C>T|||||| 22 25145753 . G A . . ANN=A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|10/21|c.1123C>T|p.Pro375Ser|1540/3504|1123/2649|375/882||,A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|11/22|c.796C>T|p.Pro266Ser|1384/3105|796/2295|266/764||,A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|11/22|c.796C>T|p.Pro266Ser|1511/3232|796/2295|266/764||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|10/21|c.1123C>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|9/21|c.1123C>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|8/21|c.1123C>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|11/21|c.1123C>T||||||,A|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|10/21|n.1544C>T|||||| 22 25145799 . C CAA . . ANN=AA|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|10/21|c.1090-15_1090-14dupTT||||||,AA|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|9/21|c.1090-15_1090-14dupTT||||||,AA|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|8/21|c.1090-15_1090-14dupTT||||||,AA|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|11/21|c.1090-15_1090-14dupTT||||||,AA|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|9/20|c.1090-15_1090-14dupTT||||||,AA|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|10/21|c.763-15_763-14dupTT||||||,AA|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|10/21|c.763-15_763-14dupTT||||||,AA|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|9/20|n.1511-15_1511-14dupTT|||||| 22 25147324 . A G . . ANN=G|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|10/21|c.1089+30T>C||||||,G|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|9/21|c.1089+30T>C||||||,G|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|8/21|c.1089+30T>C||||||,G|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|11/21|c.1089+30T>C||||||,G|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|9/20|c.1089+30T>C||||||,G|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|10/21|c.762+30T>C||||||,G|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|10/21|c.762+30T>C||||||,G|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|9/20|n.1510+30T>C|||||| 22 25147389 . C T . . ANN=T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|9/21|c.1054G>A|p.Gly352Ser|1471/3504|1054/2649|352/882||,T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|10/22|c.727G>A|p.Gly243Ser|1315/3105|727/2295|243/764||,T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|10/22|c.727G>A|p.Gly243Ser|1442/3232|727/2295|243/764||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|10/21|c.1054G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|9/21|c.1054G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|8/21|c.1054G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|11/21|c.1054G>A||||||,T|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|9/21|n.1475G>A|||||| 22 25147423 . C T . . ANN=T|synonymous_variant|LOW|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|9/21|c.1020G>A|p.Lys340Lys|1437/3504|1020/2649|340/882||,T|synonymous_variant|LOW|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|10/22|c.693G>A|p.Lys231Lys|1281/3105|693/2295|231/764||,T|synonymous_variant|LOW|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|10/22|c.693G>A|p.Lys231Lys|1408/3232|693/2295|231/764||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|10/21|c.1020G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|9/21|c.1020G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|8/21|c.1020G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|11/21|c.1020G>A||||||,T|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|9/21|n.1441G>A|||||| 22 25147456 . G T . . ANN=T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|9/21|c.987C>A|p.Asn329Lys|1404/3504|987/2649|329/882||,T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|10/22|c.660C>A|p.Asn220Lys|1248/3105|660/2295|220/764||,T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|10/22|c.660C>A|p.Asn220Lys|1375/3232|660/2295|220/764||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|10/21|c.987C>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|9/21|c.987C>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|8/21|c.987C>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|11/21|c.987C>A||||||,T|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|9/21|n.1408C>A|||||| 22 25147461 . T C . . ANN=C|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|9/21|c.982A>G|p.Asn328Asp|1399/3504|982/2649|328/882||,C|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|10/22|c.655A>G|p.Asn219Asp|1243/3105|655/2295|219/764||,C|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|10/22|c.655A>G|p.Asn219Asp|1370/3232|655/2295|219/764||,C|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|10/21|c.982A>G||||||,C|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|9/21|c.982A>G||||||,C|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|8/21|c.982A>G||||||,C|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|11/21|c.982A>G||||||,C|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|9/21|n.1403A>G|||||| 22 25149952 . T G . . ANN=G|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|10/21|c.977+29A>C||||||,G|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|9/21|c.977+29A>C||||||,G|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|8/21|c.977+29A>C||||||,G|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|11/21|c.977+29A>C||||||,G|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|8/20|c.977+29A>C||||||,G|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|9/21|c.650+29A>C||||||,G|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|9/21|c.650+29A>C||||||,G|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|8/20|n.1398+29A>C|||||| 22 25149988 . G C . . ANN=C|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|8/21|c.970C>G|p.Leu324Val|1387/3504|970/2649|324/882||,C|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|9/22|c.643C>G|p.Leu215Val|1231/3105|643/2295|215/764||,C|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|9/22|c.643C>G|p.Leu215Val|1358/3232|643/2295|215/764||,C|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|10/21|c.970C>G||||||,C|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|9/21|c.970C>G||||||,C|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|8/21|c.970C>G||||||,C|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|11/21|c.970C>G||||||,C|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|8/21|n.1391C>G|||||| 22 25150005 . A C . . ANN=C|stop_gained|HIGH|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|8/21|c.953T>G|p.Leu318*|1370/3504|953/2649|318/882||,C|stop_gained|HIGH|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|9/22|c.626T>G|p.Leu209*|1214/3105|626/2295|209/764||,C|stop_gained|HIGH|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|9/22|c.626T>G|p.Leu209*|1341/3232|626/2295|209/764||,C|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|10/21|c.953T>G||||||,C|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|9/21|c.953T>G||||||,C|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|8/21|c.953T>G||||||,C|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|11/21|c.953T>G||||||,C|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|8/21|n.1374T>G||||||;LOF=(PIWIL3|ENSG00000184571|4|0.75);NMD=(PIWIL3|ENSG00000184571|4|0.75) 22 25150051 . C T . . ANN=T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|8/21|c.907G>A|p.Ala303Thr|1324/3504|907/2649|303/882||,T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|9/22|c.580G>A|p.Ala194Thr|1168/3105|580/2295|194/764||,T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|9/22|c.580G>A|p.Ala194Thr|1295/3232|580/2295|194/764||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|10/21|c.907G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|9/21|c.907G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|8/21|c.907G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|11/21|c.907G>A||||||,T|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|8/21|n.1328G>A|||||| 22 25150073 . A G . . ANN=G|synonymous_variant|LOW|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|8/21|c.885T>C|p.Tyr295Tyr|1302/3504|885/2649|295/882||,G|synonymous_variant|LOW|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|9/22|c.558T>C|p.Tyr186Tyr|1146/3105|558/2295|186/764||,G|synonymous_variant|LOW|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|9/22|c.558T>C|p.Tyr186Tyr|1273/3232|558/2295|186/764||,G|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|10/21|c.885T>C||||||,G|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|9/21|c.885T>C||||||,G|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|8/21|c.885T>C||||||,G|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|11/21|c.885T>C||||||,G|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|8/21|n.1306T>C|||||| 22 25150138 . A G . . ANN=G|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|8/21|c.820T>C|p.Tyr274His|1237/3504|820/2649|274/882||,G|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|9/22|c.493T>C|p.Tyr165His|1081/3105|493/2295|165/764||,G|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|9/22|c.493T>C|p.Tyr165His|1208/3232|493/2295|165/764||,G|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|8/21|n.1241T>C|||||| 22 25150199 . A T . . ANN=T|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|7/20|c.774-15T>A||||||,T|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|8/21|c.447-15T>A||||||,T|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|8/21|c.447-15T>A||||||,T|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|7/20|n.1195-15T>A|||||| 22 25150209 . T TA . . ANN=A|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|7/20|c.774-26dupT||||||,A|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|8/21|c.447-26dupT||||||,A|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|8/21|c.447-26dupT||||||,A|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|7/20|n.1195-26dupT|||||| 22 25150220 . C G . . ANN=G|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|7/20|c.774-36G>C||||||,G|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|8/21|c.447-36G>C||||||,G|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|8/21|c.447-36G>C||||||,G|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|7/20|n.1195-36G>C|||||| 22 25150757 . C T . . ANN=T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|7/21|c.767G>A|p.Arg256His|1184/3504|767/2649|256/882||,T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|8/22|c.440G>A|p.Arg147His|1028/3105|440/2295|147/764||,T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|8/22|c.440G>A|p.Arg147His|1155/3232|440/2295|147/764||,T|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|7/21|n.1188G>A|||||| 22 25150797 . G A . . ANN=A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|7/21|c.727C>T|p.Arg243Cys|1144/3504|727/2649|243/882||,A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|8/22|c.400C>T|p.Arg134Cys|988/3105|400/2295|134/764||,A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|8/22|c.400C>T|p.Arg134Cys|1115/3232|400/2295|134/764||,A|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|7/21|n.1148C>T|||||| 22 25151741 . G A . . ANN=A|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|6/20|c.692+10C>T||||||,A|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|7/21|c.365+10C>T||||||,A|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|7/21|c.365+10C>T||||||,A|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|6/20|n.1113+10C>T|||||| 22 25151792 . C T . . ANN=T|synonymous_variant|LOW|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|6/21|c.651G>A|p.Thr217Thr|1068/3504|651/2649|217/882||,T|synonymous_variant|LOW|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|7/22|c.324G>A|p.Thr108Thr|912/3105|324/2295|108/764||,T|synonymous_variant|LOW|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|7/22|c.324G>A|p.Thr108Thr|1039/3232|324/2295|108/764||,T|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|6/21|n.1072G>A|||||| 22 25151833 . C T . . ANN=T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|6/21|c.610G>A|p.Val204Met|1027/3504|610/2649|204/882||,T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|7/22|c.283G>A|p.Val95Met|871/3105|283/2295|95/764||,T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|7/22|c.283G>A|p.Val95Met|998/3232|283/2295|95/764||,T|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|6/21|n.1031G>A|||||| 22 25151880 . T TA . . ANN=A|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|5/20|c.571-9dupT||||||,A|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|6/21|c.244-9dupT||||||,A|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|6/21|c.244-9dupT||||||,A|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|5/20|n.992-9dupT|||||| 22 25151888 . AAC A . . ANN=|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|5/20|c.571-18_571-17delGT||||||,|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|6/21|c.244-18_244-17delGT||||||,|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|6/21|c.244-18_244-17delGT||||||,|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|5/20|n.992-18_992-17delGT|||||| 22 25151889 . AC A . . ANN=|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|5/20|c.571-18delG||||||,|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|6/21|c.244-18delG||||||,|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|6/21|c.244-18delG||||||,|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|5/20|n.992-18delG|||||| 22 25151890 . CA C . . ANN=|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|5/20|c.571-19delT||||||,|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|6/21|c.244-19delT||||||,|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|6/21|c.244-19delT||||||,|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|5/20|n.992-19delT|||||| 22 25152416 . AAGAG A . . ANN=|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|5/20|c.570+38_570+41delCTCT||||||,|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|6/21|c.243+38_243+41delCTCT||||||,|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|6/21|c.243+38_243+41delCTCT||||||,|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|5/20|n.991+38_991+41delCTCT|||||| 22 25152463 . C T . . ANN=T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|5/21|c.565G>A|p.Glu189Lys|982/3504|565/2649|189/882||,T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|6/22|c.238G>A|p.Glu80Lys|826/3105|238/2295|80/764||,T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|6/22|c.238G>A|p.Glu80Lys|953/3232|238/2295|80/764||,T|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|5/21|n.986G>A|||||| 22 25152471 . G A . . ANN=A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|5/21|c.557C>T|p.Pro186Leu|974/3504|557/2649|186/882||,A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|6/22|c.230C>T|p.Pro77Leu|818/3105|230/2295|77/764||,A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|6/22|c.230C>T|p.Pro77Leu|945/3232|230/2295|77/764||,A|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|5/21|n.978C>T|||||| 22 25152475 . G A . . ANN=A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|5/21|c.553C>T|p.Arg185Trp|970/3504|553/2649|185/882||,A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|6/22|c.226C>T|p.Arg76Trp|814/3105|226/2295|76/764||,A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|6/22|c.226C>T|p.Arg76Trp|941/3232|226/2295|76/764||,A|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|5/21|n.974C>T|||||| 22 25152477 . G A . . ANN=A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|5/21|c.551C>T|p.Ser184Phe|968/3504|551/2649|184/882||,A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|6/22|c.224C>T|p.Ser75Phe|812/3105|224/2295|75/764||,A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|6/22|c.224C>T|p.Ser75Phe|939/3232|224/2295|75/764||,A|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|5/21|n.972C>T|||||| 22 25152499 . C T . . ANN=T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|5/21|c.529G>A|p.Asp177Asn|946/3504|529/2649|177/882||,T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|6/22|c.202G>A|p.Asp68Asn|790/3105|202/2295|68/764||,T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|6/22|c.202G>A|p.Asp68Asn|917/3232|202/2295|68/764||,T|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|5/21|n.950G>A|||||| 22 25152511 . G A . . ANN=A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|5/21|c.517C>T|p.Arg173Cys|934/3504|517/2649|173/882||,A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|6/22|c.190C>T|p.Arg64Cys|778/3105|190/2295|64/764||,A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|6/22|c.190C>T|p.Arg64Cys|905/3232|190/2295|64/764||,A|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|5/21|n.938C>T|||||| 22 25152553 . G A . . ANN=A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|5/21|c.475C>T|p.Arg159Cys|892/3504|475/2649|159/882||,A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|6/22|c.148C>T|p.Arg50Cys|736/3105|148/2295|50/764||,A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|6/22|c.148C>T|p.Arg50Cys|863/3232|148/2295|50/764||,A|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|5/21|n.896C>T|||||| 22 25152618 . C T . . ANN=T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|5/21|c.410G>A|p.Arg137His|827/3504|410/2649|137/882||,T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|6/22|c.83G>A|p.Arg28His|671/3105|83/2295|28/764||,T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|6/22|c.83G>A|p.Arg28His|798/3232|83/2295|28/764||,T|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|5/21|n.831G>A|||||| 22 25152652 . G C . . ANN=C|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|5/21|c.376C>G|p.Gln126Glu|793/3504|376/2649|126/882||,C|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|6/22|c.49C>G|p.Gln17Glu|637/3105|49/2295|17/764||,C|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|6/22|c.49C>G|p.Gln17Glu|764/3232|49/2295|17/764||,C|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|5/21|n.797C>G|||||| 22 25153864 . G A . . ANN=A|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|4/20|c.355+11C>T||||||,A|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|5/21|c.28+11C>T||||||,A|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|5/21|c.28+11C>T||||||,A|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|4/20|n.776+11C>T|||||| 22 25153963 . G A . . ANN=A|synonymous_variant|LOW|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|4/21|c.267C>T|p.Pro89Pro|684/3504|267/2649|89/882||,A|5_prime_UTR_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|5/22|c.-61C>T|||||61|,A|5_prime_UTR_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|5/22|c.-61C>T|||||61|,A|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|4/21|n.688C>T|||||| 22 25153966 . C T . . ANN=T|synonymous_variant|LOW|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|4/21|c.264G>A|p.Ala88Ala|681/3504|264/2649|88/882||,T|5_prime_UTR_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|5/22|c.-64G>A|||||64|,T|5_prime_UTR_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|5/22|c.-64G>A|||||64|,T|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|4/21|n.685G>A|||||| 22 25154022 . C T . . ANN=T|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|3/20|c.224-16G>A||||||,T|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|4/21|c.-104-16G>A||||||,T|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|4/21|c.-104-16G>A||||||,T|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|3/20|n.645-16G>A|||||| 22 25155857 . CTGCTCCTCCTCT C . . ANN=|inframe_deletion|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|3/21|c.190_201delAGAGGAGGAGCA|p.Arg64_Ala67del|618/3504|190/2649|64/882||,|5_prime_UTR_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|4/22|c.-138_-127delAGAGGAGGAGCA|||||1956|,|5_prime_UTR_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|4/22|c.-138_-127delAGAGGAGGAGCA|||||1956|,|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|3/21|n.611_622delAGAGGAGGAGCA|||||| 22 25155922 . C T . . ANN=T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|3/21|c.137G>A|p.Arg46Gln|554/3504|137/2649|46/882||,T|5_prime_UTR_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|4/22|c.-191G>A|||||2020|,T|5_prime_UTR_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|4/22|c.-191G>A|||||2020|,T|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|3/21|n.558G>A|||||| 22 25155925 . G A . . ANN=A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|3/21|c.134C>T|p.Pro45Leu|551/3504|134/2649|45/882||,A|5_prime_UTR_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|4/22|c.-194C>T|||||2023|,A|5_prime_UTR_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|4/22|c.-194C>T|||||2023|,A|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|3/21|n.555C>T|||||| 22 25155952 . TG T . . ANN=|frameshift_variant|HIGH|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|3/21|c.106delC|p.Gln36fs|523/3504|106/2649|36/882||,|5_prime_UTR_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|4/22|c.-222delC|||||2051|,|5_prime_UTR_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|4/22|c.-222delC|||||2051|,|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|3/21|n.527delC|||||| 22 25155983 . T C . . ANN=C|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|2/20|c.103-27A>G||||||,C|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|3/21|c.-225-27A>G||||||,C|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|3/21|c.-225-27A>G||||||,C|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|2/20|n.524-27A>G|||||| 22 25158326 . A G . . ANN=G|5_prime_UTR_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|3/22|c.-278T>C|||||4424|,G|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|2/20|c.102+39T>C||||||,G|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|2/21|c.-309+39T>C||||||,G|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|2/20|n.523+39T>C|||||| 22 25158384 . C T . . ANN=T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|2/21|c.83G>A|p.Arg28Lys|500/3504|83/2649|28/882||,T|5_prime_UTR_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|2/22|c.-328G>A|||||4482|,T|5_prime_UTR_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|3/22|c.-336G>A|||||4482|,T|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|2/21|n.504G>A|||||| 22 25158391 . C T . . ANN=T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|2/21|c.76G>A|p.Gly26Arg|493/3504|76/2649|26/882||,T|5_prime_UTR_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|2/22|c.-335G>A|||||4489|,T|5_prime_UTR_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|3/22|c.-343G>A|||||4489|,T|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|2/21|n.497G>A|||||| 22 25158398 . T C . . ANN=C|synonymous_variant|LOW|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|2/21|c.69A>G|p.Ala23Ala|486/3504|69/2649|23/882||,C|5_prime_UTR_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|2/22|c.-342A>G|||||4496|,C|5_prime_UTR_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|3/22|c.-350A>G|||||4496|,C|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|2/21|n.490A>G|||||| 22 25158404 . T A . . ANN=A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|2/21|c.63A>T|p.Gln21His|480/3504|63/2649|21/882||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|2/22|c.-348A>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|3/22|c.-356A>T||||||,A|5_prime_UTR_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|2/22|c.-348A>T|||||4502|,A|5_prime_UTR_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|3/22|c.-356A>T|||||4502|,A|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|2/21|n.484A>T|||||| 22 25158423 . C T . . ANN=T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|2/21|c.44G>A|p.Arg15His|461/3504|44/2649|15/882||,T|5_prime_UTR_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|2/22|c.-367G>A|||||4521|,T|5_prime_UTR_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|3/22|c.-375G>A|||||4521|,T|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|2/21|n.465G>A|||||| 22 25158438 . C T . . ANN=T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|2/21|c.29G>A|p.Arg10Gln|446/3504|29/2649|10/882||,T|5_prime_UTR_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|2/22|c.-382G>A|||||4536|,T|5_prime_UTR_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|3/22|c.-390G>A|||||4536|,T|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|2/21|n.450G>A|||||| 22 25158439 . G C . . ANN=C|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|2/21|c.28C>G|p.Arg10Gly|445/3504|28/2649|10/882||,C|5_prime_UTR_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|2/22|c.-383C>G|||||4537|,C|5_prime_UTR_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|3/22|c.-391C>G|||||4537|,C|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|2/21|n.449C>G|||||| 22 25158443 . G A . . ANN=A|synonymous_variant|LOW|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|2/21|c.24C>T|p.Arg8Arg|441/3504|24/2649|8/882||,A|5_prime_UTR_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|2/22|c.-387C>T|||||4541|,A|5_prime_UTR_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|3/22|c.-395C>T|||||4541|,A|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|2/21|n.445C>T|||||| 22 25158444 . C T . . ANN=T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|2/21|c.23G>A|p.Arg8His|440/3504|23/2649|8/882||,T|5_prime_UTR_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|2/22|c.-388G>A|||||4542|,T|5_prime_UTR_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|3/22|c.-396G>A|||||4542|,T|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|2/21|n.444G>A|||||| 22 25158445 . G A . . ANN=A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|2/21|c.22C>T|p.Arg8Cys|439/3504|22/2649|8/882||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|2/22|c.-389C>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|3/22|c.-397C>T||||||,A|5_prime_UTR_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|2/22|c.-389C>T|||||4543|,A|5_prime_UTR_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|3/22|c.-397C>T|||||4543|,A|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|2/21|n.443C>T|||||| 22 25158505 . T C . . ANN=C|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|1/20|c.-22-17A>G||||||,C|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|1/21|c.-432-17A>G||||||,C|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|2/21|c.-440-17A>G||||||,C|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|1/20|n.400-17A>G|||||| 22 25158513 . A G . . ANN=G|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|1/20|c.-22-25T>C||||||,G|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|1/21|c.-432-25T>C||||||,G|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|2/21|c.-440-25T>C||||||,G|intron_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|1/20|n.400-25T>C|||||| 22 25202463 . G C . . ANN=C|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|2/25|c.63+12G>C||||||,C|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|2/24|c.63+12G>C||||||,C|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000470591|processed_transcript|2/3|n.82+12G>C|||||| 22 25240847 . T C . . ANN=C|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|2/25|c.64-17T>C||||||,C|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|2/24|c.64-17T>C||||||,C|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|1/22|n.1421T>C||||||,C|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|1/23|n.140T>C|||||| 22 25240987 . C T . . ANN=T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|3/26|c.139+48C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|7/26|c.139+48C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|4/26|c.139+48C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|6/26|c.139+48C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|5/26|c.139+48C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|3/25|c.139+48C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|7/25|c.139+48C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|4/25|c.139+48C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|6/25|c.139+48C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|5/25|c.139+48C>T||||||,T|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|3/25|c.139+48C>T||||||,T|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|3/24|c.139+48C>T||||||,T|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|1/21|n.1513+48C>T||||||,T|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|1/22|n.232+48C>T|||||| 22 25243557 . G A . . ANN=A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|3/26|c.140-44G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|7/26|c.140-44G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|4/26|c.140-44G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|6/26|c.140-44G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|5/26|c.140-44G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|3/25|c.140-44G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|7/25|c.140-44G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|4/25|c.140-44G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|6/25|c.140-44G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|5/25|c.140-44G>A||||||,A|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|3/25|c.140-44G>A||||||,A|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|3/24|c.140-44G>A||||||,A|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|1/21|n.1514-44G>A||||||,A|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|1/22|n.233-44G>A|||||| 22 25243626 . C T . . ANN=T|synonymous_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|4/26|c.165C>T|p.His55His|172/4317|165/3447|55/1148||,T|synonymous_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|4/25|c.165C>T|p.His55His|222/6643|165/3282|55/1093||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|3/26|c.165C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|7/26|c.165C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|4/26|c.165C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|6/26|c.165C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|5/26|c.165C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|3/25|c.165C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|7/25|c.165C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|4/25|c.165C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|6/25|c.165C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|5/25|c.165C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|2/22|n.1539C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|2/23|n.258C>T|||||| 22 25243706 . C T . . ANN=T|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|4/26|c.245C>T|p.Pro82Leu|252/4317|245/3447|82/1148||,T|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|4/25|c.245C>T|p.Pro82Leu|302/6643|245/3282|82/1093||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|3/26|c.245C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|7/26|c.245C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|4/26|c.245C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|6/26|c.245C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|5/26|c.245C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|3/25|c.245C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|7/25|c.245C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|4/25|c.245C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|6/25|c.245C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|5/25|c.245C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|2/22|n.1619C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|2/23|n.338C>T|||||| 22 25243709 . C T . . ANN=T|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|4/26|c.248C>T|p.Pro83Leu|255/4317|248/3447|83/1148||,T|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|4/25|c.248C>T|p.Pro83Leu|305/6643|248/3282|83/1093||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|3/26|c.248C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|7/26|c.248C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|4/26|c.248C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|6/26|c.248C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|5/26|c.248C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|3/25|c.248C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|7/25|c.248C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|4/25|c.248C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|6/25|c.248C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|5/25|c.248C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|2/22|n.1622C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|2/23|n.341C>T|||||| 22 25246287 . C G . . ANN=G|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|5/26|c.343C>G|p.Leu115Val|350/4317|343/3447|115/1148||,G|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|5/25|c.343C>G|p.Leu115Val|400/6643|343/3282|115/1093||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|3/26|c.343C>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|7/26|c.343C>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|4/26|c.343C>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|6/26|c.343C>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|5/26|c.343C>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|3/25|c.343C>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|7/25|c.343C>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|4/25|c.343C>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|6/25|c.343C>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|5/25|c.343C>G||||||,G|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|3/22|n.1717C>G||||||,G|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|3/23|n.436C>G|||||| 22 25246311 . C T . . ANN=T|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|5/26|c.367C>T|p.Pro123Ser|374/4317|367/3447|123/1148||,T|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|5/25|c.367C>T|p.Pro123Ser|424/6643|367/3282|123/1093||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|3/26|c.367C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|7/26|c.367C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|4/26|c.367C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|6/26|c.367C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|5/26|c.367C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|3/25|c.367C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|7/25|c.367C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|4/25|c.367C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|6/25|c.367C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|5/25|c.367C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|3/22|n.1741C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|3/23|n.460C>T|||||| 22 25246313 . A G . . ANN=G|synonymous_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|5/26|c.369A>G|p.Pro123Pro|376/4317|369/3447|123/1148||,G|synonymous_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|5/25|c.369A>G|p.Pro123Pro|426/6643|369/3282|123/1093||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|3/26|c.369A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|7/26|c.369A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|4/26|c.369A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|6/26|c.369A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|5/26|c.369A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|3/25|c.369A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|7/25|c.369A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|4/25|c.369A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|6/25|c.369A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|5/25|c.369A>G||||||,G|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|3/22|n.1743A>G||||||,G|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|3/23|n.462A>G|||||| 22 25246440 . C A . . ANN=A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|3/26|c.455+41C>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|7/26|c.455+41C>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|4/26|c.455+41C>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|6/26|c.455+41C>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|5/26|c.455+41C>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|3/25|c.455+41C>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|7/25|c.455+41C>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|4/25|c.455+41C>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|6/25|c.455+41C>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|5/25|c.455+41C>A||||||,A|TF_binding_site_variant|MODIFIER|||CTCF|MA0139.1|||||||||,A|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|5/25|c.455+41C>A||||||,A|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|5/24|c.455+41C>A||||||,A|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|3/21|n.1829+41C>A||||||,A|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|3/22|n.548+41C>A|||||| 22 25251027 . T C . . ANN=C|synonymous_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|6/26|c.520T>C|p.Leu174Leu|527/4317|520/3447|174/1148||,C|synonymous_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|6/25|c.520T>C|p.Leu174Leu|577/6643|520/3282|174/1093||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|3/26|c.520T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|7/26|c.520T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|4/26|c.520T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|6/26|c.520T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|5/26|c.520T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|3/25|c.520T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|7/25|c.520T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|4/25|c.520T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|6/25|c.520T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|5/25|c.520T>C||||||,C|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|4/22|n.1894T>C||||||,C|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|4/23|n.613T>C|||||| 22 25251372 . C T . . ANN=T|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|7/26|c.644C>T|p.Ser215Leu|651/4317|644/3447|215/1148||,T|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|7/25|c.644C>T|p.Ser215Leu|701/6643|644/3282|215/1093||,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|5/22|n.2018C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|5/23|n.737C>T|||||| 22 25251378 . C A . . ANN=A|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|7/26|c.650C>A|p.Thr217Asn|657/4317|650/3447|217/1148||,A|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|7/25|c.650C>A|p.Thr217Asn|707/6643|650/3282|217/1093||,A|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|5/22|n.2024C>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|5/23|n.743C>A|||||| 22 25251477 . C G . . ANN=G|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|7/25|c.670-39C>G||||||,G|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|7/24|c.670-39C>G||||||,G|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|5/21|n.2044-39C>G||||||,G|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|5/22|n.763-39C>G|||||| 22 25251500 . C T . . ANN=T|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|7/25|c.670-16C>T||||||,T|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|7/24|c.670-16C>T||||||,T|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|5/21|n.2044-16C>T||||||,T|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|5/22|n.763-16C>T|||||| 22 25251504 . A C . . ANN=C|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|7/25|c.670-12A>C||||||,C|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|7/24|c.670-12A>C||||||,C|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|5/21|n.2044-12A>C||||||,C|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|5/22|n.763-12A>C|||||| 22 25251516 . A G . . ANN=G|missense_variant&splice_region_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|8/26|c.670A>G|p.Ile224Val|677/4317|670/3447|224/1148||,G|missense_variant&splice_region_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|8/25|c.670A>G|p.Ile224Val|727/6643|670/3282|224/1093||,G|splice_region_variant&non_coding_exon_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|6/22|n.2044A>G||||||,G|splice_region_variant&non_coding_exon_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|6/23|n.763A>G|||||| 22 25251520 . A C . . ANN=C|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|8/26|c.674A>C|p.Gln225Pro|681/4317|674/3447|225/1148||,C|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|8/25|c.674A>C|p.Gln225Pro|731/6643|674/3282|225/1093||,C|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|6/22|n.2048A>C||||||,C|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|6/23|n.767A>C|||||| 22 25251671 . A C . . ANN=C|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|8/25|c.801+24A>C||||||,C|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|8/24|c.801+24A>C||||||,C|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|6/21|n.2175+24A>C||||||,C|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|6/22|n.894+24A>C|||||| 22 25255688 . C T . . ANN=T|synonymous_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|9/26|c.807C>T|p.Asp269Asp|814/4317|807/3447|269/1148||,T|synonymous_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|9/25|c.807C>T|p.Asp269Asp|864/6643|807/3282|269/1093||,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|7/22|n.2181C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|7/23|n.900C>T|||||| 22 25263048 . G A . . ANN=A|sequence_feature|LOW|SGSM1|ENSG00000167037|region_of_interest:Required_for_interaction_with_RAP_family_members|ENST00000400359|protein_coding|11/26|c.927-12G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|region_of_interest:Required_for_interaction_with_RAP_family_members|ENST00000400359|protein_coding|10/26|c.927-12G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|region_of_interest:Required_for_interaction_with_RAP_family_members|ENST00000400359|protein_coding|9/26|c.927-12G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|region_of_interest:Required_for_interaction_with_RAP_family_members|ENST00000400358|protein_coding|11/25|c.927-12G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|region_of_interest:Required_for_interaction_with_RAP_family_members|ENST00000400358|protein_coding|10/25|c.927-12G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|region_of_interest:Required_for_interaction_with_RAP_family_members|ENST00000400358|protein_coding|9/25|c.927-12G>A||||||,A|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|9/25|c.927-12G>A||||||,A|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|9/24|c.927-12G>A||||||,A|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|7/21|n.2301-12G>A||||||,A|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|7/22|n.1020-12G>A|||||| 22 25263123 . G A . . ANN=A|synonymous_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|10/26|c.990G>A|p.Gln330Gln|997/4317|990/3447|330/1148||,A|synonymous_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|10/25|c.990G>A|p.Gln330Gln|1047/6643|990/3282|330/1093||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|region_of_interest:Required_for_interaction_with_RAP_family_members|ENST00000400359|protein_coding|11/26|c.990G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|region_of_interest:Required_for_interaction_with_RAP_family_members|ENST00000400359|protein_coding|10/26|c.990G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|region_of_interest:Required_for_interaction_with_RAP_family_members|ENST00000400359|protein_coding|9/26|c.990G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|region_of_interest:Required_for_interaction_with_RAP_family_members|ENST00000400358|protein_coding|11/25|c.990G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|region_of_interest:Required_for_interaction_with_RAP_family_members|ENST00000400358|protein_coding|10/25|c.990G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|region_of_interest:Required_for_interaction_with_RAP_family_members|ENST00000400358|protein_coding|9/25|c.990G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|8/22|n.2364G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|8/23|n.1083G>A|||||| 22 25264353 . C T . . ANN=T|synonymous_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|11/26|c.1005C>T|p.Gly335Gly|1012/4317|1005/3447|335/1148||,T|synonymous_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|11/25|c.1005C>T|p.Gly335Gly|1062/6643|1005/3282|335/1093||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|region_of_interest:Required_for_interaction_with_RAP_family_members|ENST00000400359|protein_coding|11/26|c.1005C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|region_of_interest:Required_for_interaction_with_RAP_family_members|ENST00000400359|protein_coding|10/26|c.1005C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|region_of_interest:Required_for_interaction_with_RAP_family_members|ENST00000400359|protein_coding|9/26|c.1005C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|region_of_interest:Required_for_interaction_with_RAP_family_members|ENST00000400358|protein_coding|11/25|c.1005C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|region_of_interest:Required_for_interaction_with_RAP_family_members|ENST00000400358|protein_coding|10/25|c.1005C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|region_of_interest:Required_for_interaction_with_RAP_family_members|ENST00000400358|protein_coding|9/25|c.1005C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|9/22|n.2379C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|9/23|n.1098C>T|||||| 22 25264482 . G A . . ANN=A|synonymous_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|11/26|c.1134G>A|p.Pro378Pro|1141/4317|1134/3447|378/1148||,A|synonymous_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|11/25|c.1134G>A|p.Pro378Pro|1191/6643|1134/3282|378/1093||,A|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|9/22|n.2508G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|9/23|n.1227G>A|||||| 22 25264646 . A ACAGAT . . ANN=CAGAT|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|11/25|c.1159-43_1159-39dupCAGAT||||||INFO_REALIGN_3_PRIME,CAGAT|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|11/24|c.1159-43_1159-39dupCAGAT||||||INFO_REALIGN_3_PRIME,CAGAT|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|9/21|n.2533-43_2533-39dupCAGAT||||||INFO_REALIGN_3_PRIME,CAGAT|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|9/22|n.1252-43_1252-39dupCAGAT||||||INFO_REALIGN_3_PRIME 22 25264651 . T C . . ANN=C|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|11/25|c.1159-39T>C||||||,C|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|11/24|c.1159-39T>C||||||,C|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|9/21|n.2533-39T>C||||||,C|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|9/22|n.1252-39T>C|||||| 22 25264730 . G A . . ANN=A|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|12/26|c.1199G>A|p.Gly400Asp|1206/4317|1199/3447|400/1148||,A|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|12/25|c.1199G>A|p.Gly400Asp|1256/6643|1199/3282|400/1093||,A|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|10/22|n.2573G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|10/23|n.1292G>A|||||| 22 25264776 . G A . . ANN=A|synonymous_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|12/26|c.1245G>A|p.Thr415Thr|1252/4317|1245/3447|415/1148||,A|synonymous_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|12/25|c.1245G>A|p.Thr415Thr|1302/6643|1245/3282|415/1093||,A|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|10/22|n.2619G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|10/23|n.1338G>A|||||| 22 25264869 . C T . . ANN=T|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|12/25|c.1291+47C>T||||||,T|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|12/24|c.1291+47C>T||||||,T|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|10/21|n.2665+47C>T||||||,T|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|10/22|n.1384+47C>T|||||| 22 25270344 . C A . . ANN=A|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|12/25|c.1292-38C>A||||||,A|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|12/24|c.1292-2200C>A||||||,A|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|10/21|n.2666-2200C>A||||||,A|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|10/22|n.1385-2200C>A|||||| 22 25270390 . G A . . ANN=A|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|13/26|c.1300G>A|p.Asp434Asn|1307/4317|1300/3447|434/1148||,A|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|12/24|c.1292-2154G>A||||||,A|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|10/21|n.2666-2154G>A||||||,A|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|10/22|n.1385-2154G>A|||||| 22 25270441 . G C . . ANN=C|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|13/26|c.1351G>C|p.Val451Leu|1358/4317|1351/3447|451/1148||,C|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|12/24|c.1292-2103G>C||||||,C|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|10/21|n.2666-2103G>C||||||,C|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|10/22|n.1385-2103G>C|||||| 22 25270455 . G C . . ANN=C|synonymous_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|13/26|c.1365G>C|p.Arg455Arg|1372/4317|1365/3447|455/1148||,C|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|12/24|c.1292-2089G>C||||||,C|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|10/21|n.2666-2089G>C||||||,C|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|10/22|n.1385-2089G>C|||||| 22 25270520 . C T . . ANN=T|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|13/26|c.1430C>T|p.Thr477Met|1437/4317|1430/3447|477/1148||,T|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|12/24|c.1292-2024C>T||||||,T|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|10/21|n.2666-2024C>T||||||,T|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|10/22|n.1385-2024C>T|||||| 22 25270529 . C T . . ANN=T|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|13/26|c.1439C>T|p.Pro480Leu|1446/4317|1439/3447|480/1148||,T|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|12/24|c.1292-2015C>T||||||,T|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|10/21|n.2666-2015C>T||||||,T|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|10/22|n.1385-2015C>T|||||| 22 25270567 . G T . . ANN=T|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|13/25|c.1456+21G>T||||||,T|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|12/24|c.1292-1977G>T||||||,T|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|10/21|n.2666-1977G>T||||||,T|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|10/22|n.1385-1977G>T|||||| 22 25272533 . A G . . ANN=G|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|13/25|c.1457-11A>G||||||,G|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|12/24|c.1292-11A>G||||||,G|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|10/21|n.2666-11A>G||||||,G|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|10/22|n.1385-11A>G|||||| 22 25272606 . C T . . ANN=T|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|14/26|c.1519C>T|p.Arg507Trp|1526/4317|1519/3447|507/1148||,T|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|13/25|c.1354C>T|p.Arg452Trp|1411/6643|1354/3282|452/1093||,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|11/22|n.2728C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|11/23|n.1447C>T|||||| 22 25272645 . G A . . ANN=A|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|14/26|c.1558G>A|p.Ala520Thr|1565/4317|1558/3447|520/1148||,A|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|13/25|c.1393G>A|p.Ala465Thr|1450/6643|1393/3282|465/1093||,A|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|11/22|n.2767G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|11/23|n.1486G>A|||||| 22 25275393 . T C . . ANN=C|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|14/25|c.1596-36T>C||||||,C|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|13/24|c.1431-36T>C||||||,C|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|11/21|n.2805-36T>C||||||,C|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|11/22|n.1524-36T>C|||||| 22 25275523 . C A . . ANN=A|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|15/25|c.1660+30C>A||||||,A|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|14/24|c.1495+30C>A||||||,A|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|12/21|n.2869+30C>A||||||,A|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|12/22|n.1588+30C>A|||||| 22 25280022 . C T . . ANN=T|splice_region_variant&synonymous_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|16/26|c.1663C>T|p.Leu555Leu|1670/4317|1663/3447|555/1148||,T|splice_region_variant&synonymous_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|15/25|c.1498C>T|p.Leu500Leu|1555/6643|1498/3282|500/1093||,T|splice_region_variant&non_coding_exon_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|13/22|n.2872C>T||||||,T|splice_region_variant&non_coding_exon_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|13/23|n.1591C>T|||||| 22 25280048 . C T . . ANN=T|synonymous_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|16/26|c.1689C>T|p.Thr563Thr|1696/4317|1689/3447|563/1148||,T|synonymous_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|15/25|c.1524C>T|p.Thr508Thr|1581/6643|1524/3282|508/1093||,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|13/22|n.2898C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|13/23|n.1617C>T|||||| 22 25280070 . C T . . ANN=T|synonymous_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|16/26|c.1711C>T|p.Leu571Leu|1718/4317|1711/3447|571/1148||,T|synonymous_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|15/25|c.1546C>T|p.Leu516Leu|1603/6643|1546/3282|516/1093||,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|13/22|n.2920C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|13/23|n.1639C>T|||||| 22 25280157 . G A . . ANN=A|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|16/26|c.1798G>A|p.Asp600Asn|1805/4317|1798/3447|600/1148||,A|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|15/25|c.1633G>A|p.Asp545Asn|1690/6643|1633/3282|545/1093||,A|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|13/22|n.3007G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|13/23|n.1726G>A|||||| 22 25280181 . G A . . ANN=A|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|16/25|c.1806+16G>A||||||,A|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|15/24|c.1641+16G>A||||||,A|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|13/21|n.3015+16G>A||||||,A|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|13/22|n.1734+16G>A|||||| 22 25280189 . T G . . ANN=G|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|16/25|c.1806+24T>G||||||,G|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|15/24|c.1641+24T>G||||||,G|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|13/21|n.3015+24T>G||||||,G|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|13/22|n.1734+24T>G|||||| 22 25282605 . C T . . ANN=T|synonymous_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|17/26|c.1845C>T|p.Tyr615Tyr|1852/4317|1845/3447|615/1148||,T|synonymous_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|16/25|c.1680C>T|p.Tyr560Tyr|1737/6643|1680/3282|560/1093||,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|14/22|n.3054C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|14/23|n.1773C>T|||||| 22 25282635 . C T . . ANN=T|synonymous_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|17/26|c.1875C>T|p.Ala625Ala|1882/4317|1875/3447|625/1148||,T|synonymous_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|16/25|c.1710C>T|p.Ala570Ala|1767/6643|1710/3282|570/1093||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|22/26|c.1875C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|19/26|c.1875C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|17/26|c.1875C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|23/26|c.1875C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|25/26|c.1875C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|24/26|c.1875C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|18/26|c.1875C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|20/26|c.1875C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|21/26|c.1875C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|21/25|c.1710C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|18/25|c.1710C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|16/25|c.1710C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|22/25|c.1710C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|24/25|c.1710C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|23/25|c.1710C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|17/25|c.1710C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|19/25|c.1710C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|20/25|c.1710C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|14/22|n.3084C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|14/23|n.1803C>T|||||| 22 25282676 . C T . . ANN=T|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|17/26|c.1916C>T|p.Thr639Met|1923/4317|1916/3447|639/1148||,T|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|16/25|c.1751C>T|p.Thr584Met|1808/6643|1751/3282|584/1093||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|22/26|c.1916C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|19/26|c.1916C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|17/26|c.1916C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|23/26|c.1916C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|25/26|c.1916C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|24/26|c.1916C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|18/26|c.1916C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|20/26|c.1916C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|21/26|c.1916C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|21/25|c.1751C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|18/25|c.1751C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|16/25|c.1751C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|22/25|c.1751C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|24/25|c.1751C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|23/25|c.1751C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|17/25|c.1751C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|19/25|c.1751C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|20/25|c.1751C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|14/22|n.3125C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|14/23|n.1844C>T|||||| 22 25282711 . T C . . ANN=C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|22/26|c.1935+16T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|19/26|c.1935+16T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|17/26|c.1935+16T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|23/26|c.1935+16T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|25/26|c.1935+16T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|24/26|c.1935+16T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|18/26|c.1935+16T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|20/26|c.1935+16T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|21/26|c.1935+16T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|21/25|c.1770+16T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|18/25|c.1770+16T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|16/25|c.1770+16T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|22/25|c.1770+16T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|24/25|c.1770+16T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|23/25|c.1770+16T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|17/25|c.1770+16T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|19/25|c.1770+16T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|20/25|c.1770+16T>C||||||,C|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|17/25|c.1935+16T>C||||||,C|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|16/24|c.1770+16T>C||||||,C|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|14/21|n.3144+16T>C||||||,C|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|14/22|n.1863+16T>C|||||| 22 25289356 . C T . . ANN=T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|22/26|c.1936-42C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|19/26|c.1936-42C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|17/26|c.1936-42C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|23/26|c.1936-42C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|25/26|c.1936-42C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|24/26|c.1936-42C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|18/26|c.1936-42C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|20/26|c.1936-42C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|21/26|c.1936-42C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|21/25|c.1771-42C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|18/25|c.1771-42C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|16/25|c.1771-42C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|22/25|c.1771-42C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|24/25|c.1771-42C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|23/25|c.1771-42C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|17/25|c.1771-42C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|19/25|c.1771-42C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|20/25|c.1771-42C>T||||||,T|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|17/25|c.1936-42C>T||||||,T|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|16/24|c.1771-42C>T||||||,T|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|14/21|n.3145-1834C>T||||||,T|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|14/22|n.1864-42C>T|||||| 22 25289448 . G A . . ANN=A|synonymous_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|18/26|c.1986G>A|p.Leu662Leu|1993/4317|1986/3447|662/1148||,A|synonymous_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|17/25|c.1821G>A|p.Leu607Leu|1878/6643|1821/3282|607/1093||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|22/26|c.1986G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|19/26|c.1986G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|17/26|c.1986G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|23/26|c.1986G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|25/26|c.1986G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|24/26|c.1986G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|18/26|c.1986G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|20/26|c.1986G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|21/26|c.1986G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|21/25|c.1821G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|18/25|c.1821G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|16/25|c.1821G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|22/25|c.1821G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|24/25|c.1821G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|23/25|c.1821G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|17/25|c.1821G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|19/25|c.1821G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|20/25|c.1821G>A||||||,A|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|14/21|n.3145-1742G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|15/23|n.1914G>A|||||| 22 25289468 . G A . . ANN=A|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|18/26|c.2006G>A|p.Arg669Gln|2013/4317|2006/3447|669/1148||,A|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|17/25|c.1841G>A|p.Arg614Gln|1898/6643|1841/3282|614/1093||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|22/26|c.2006G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|19/26|c.2006G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|17/26|c.2006G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|23/26|c.2006G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|25/26|c.2006G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|24/26|c.2006G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|18/26|c.2006G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|20/26|c.2006G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|21/26|c.2006G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|21/25|c.1841G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|18/25|c.1841G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|16/25|c.1841G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|22/25|c.1841G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|24/25|c.1841G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|23/25|c.1841G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|17/25|c.1841G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|19/25|c.1841G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|20/25|c.1841G>A||||||,A|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|14/21|n.3145-1722G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|15/23|n.1934G>A|||||| 22 25289499 . C A . . ANN=A|synonymous_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|18/26|c.2037C>A|p.Ala679Ala|2044/4317|2037/3447|679/1148||,A|synonymous_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|17/25|c.1872C>A|p.Ala624Ala|1929/6643|1872/3282|624/1093||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|22/26|c.2037C>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|19/26|c.2037C>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|17/26|c.2037C>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|23/26|c.2037C>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|25/26|c.2037C>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|24/26|c.2037C>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|18/26|c.2037C>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|20/26|c.2037C>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|21/26|c.2037C>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|21/25|c.1872C>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|18/25|c.1872C>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|16/25|c.1872C>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|22/25|c.1872C>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|24/25|c.1872C>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|23/25|c.1872C>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|17/25|c.1872C>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|19/25|c.1872C>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|20/25|c.1872C>A||||||,A|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|14/21|n.3145-1691C>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|15/23|n.1965C>A|||||| 22 25289589 . C T . . ANN=T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|22/26|c.2118+9C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|19/26|c.2118+9C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|17/26|c.2118+9C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|23/26|c.2118+9C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|25/26|c.2118+9C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|24/26|c.2118+9C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|18/26|c.2118+9C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|20/26|c.2118+9C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|21/26|c.2118+9C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|21/25|c.1953+9C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|18/25|c.1953+9C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|16/25|c.1953+9C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|22/25|c.1953+9C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|24/25|c.1953+9C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|23/25|c.1953+9C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|17/25|c.1953+9C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|19/25|c.1953+9C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|20/25|c.1953+9C>T||||||,T|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|18/25|c.2118+9C>T||||||,T|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|17/24|c.1953+9C>T||||||,T|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|14/21|n.3145-1601C>T||||||,T|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|15/22|n.2046+9C>T|||||| 22 25289609 . G T . . ANN=T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|22/26|c.2118+29G>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|19/26|c.2118+29G>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|17/26|c.2118+29G>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|23/26|c.2118+29G>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|25/26|c.2118+29G>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|24/26|c.2118+29G>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|18/26|c.2118+29G>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|20/26|c.2118+29G>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|21/26|c.2118+29G>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|21/25|c.1953+29G>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|18/25|c.1953+29G>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|16/25|c.1953+29G>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|22/25|c.1953+29G>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|24/25|c.1953+29G>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|23/25|c.1953+29G>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|17/25|c.1953+29G>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|19/25|c.1953+29G>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|20/25|c.1953+29G>T||||||,T|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|18/25|c.2118+29G>T||||||,T|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|17/24|c.1953+29G>T||||||,T|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|14/21|n.3145-1581G>T||||||,T|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|15/22|n.2046+29G>T|||||| 22 25291182 . TTTC T . . ANN=|splice_region_variant&intron_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|18/25|c.2119-6_2119-4delTCT||||||INFO_REALIGN_3_PRIME,|splice_region_variant&intron_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|17/24|c.1954-6_1954-4delTCT||||||INFO_REALIGN_3_PRIME,|splice_region_variant&intron_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|14/21|n.3145-6_3145-4delTCT||||||INFO_REALIGN_3_PRIME,|splice_region_variant&intron_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|15/22|n.2047-6_2047-4delTCT||||||INFO_REALIGN_3_PRIME,|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|22/26|c.2119-7_2119-5delTTC||||||,|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|19/26|c.2119-7_2119-5delTTC||||||,|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|17/26|c.2119-7_2119-5delTTC||||||,|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|23/26|c.2119-7_2119-5delTTC||||||,|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|25/26|c.2119-7_2119-5delTTC||||||,|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|24/26|c.2119-7_2119-5delTTC||||||,|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|18/26|c.2119-7_2119-5delTTC||||||,|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|20/26|c.2119-7_2119-5delTTC||||||,|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|21/26|c.2119-7_2119-5delTTC||||||,|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|21/25|c.1954-7_1954-5delTTC||||||,|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|18/25|c.1954-7_1954-5delTTC||||||,|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|16/25|c.1954-7_1954-5delTTC||||||,|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|22/25|c.1954-7_1954-5delTTC||||||,|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|24/25|c.1954-7_1954-5delTTC||||||,|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|23/25|c.1954-7_1954-5delTTC||||||,|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|17/25|c.1954-7_1954-5delTTC||||||,|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|19/25|c.1954-7_1954-5delTTC||||||,|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|20/25|c.1954-7_1954-5delTTC|||||| 22 25291210 . G A . . ANN=A|synonymous_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|19/26|c.2139G>A|p.Ser713Ser|2146/4317|2139/3447|713/1148||,A|synonymous_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|18/25|c.1974G>A|p.Ser658Ser|2031/6643|1974/3282|658/1093||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|22/26|c.2139G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|19/26|c.2139G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|17/26|c.2139G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|23/26|c.2139G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|25/26|c.2139G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|24/26|c.2139G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|18/26|c.2139G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|20/26|c.2139G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|21/26|c.2139G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|21/25|c.1974G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|18/25|c.1974G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|16/25|c.1974G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|22/25|c.1974G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|24/25|c.1974G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|23/25|c.1974G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|17/25|c.1974G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|19/25|c.1974G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|20/25|c.1974G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|15/22|n.3165G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|16/23|n.2067G>A|||||| 22 25293936 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|19/25|c.2188-3C>T||||||,T|splice_region_variant&intron_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|18/24|c.2023-3C>T||||||,T|splice_region_variant&intron_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|15/21|n.3214-3C>T||||||,T|splice_region_variant&intron_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|16/22|n.2116-3C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|22/26|c.2188-3C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|19/26|c.2188-3C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|17/26|c.2188-3C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|23/26|c.2188-3C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|25/26|c.2188-3C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|24/26|c.2188-3C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|18/26|c.2188-3C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|20/26|c.2188-3C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|21/26|c.2188-3C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|21/25|c.2023-3C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|18/25|c.2023-3C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|16/25|c.2023-3C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|22/25|c.2023-3C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|24/25|c.2023-3C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|23/25|c.2023-3C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|17/25|c.2023-3C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|19/25|c.2023-3C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|20/25|c.2023-3C>T||||||,T|downstream_gene_variant|MODIFIER|SNORD56|ENSG00000199783|transcript|ENST00000362913|snoRNA||n.*68G>A|||||3178| 22 25293954 . G C . . ANN=C|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|20/26|c.2203G>C|p.Asp735His|2210/4317|2203/3447|735/1148||,C|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|19/25|c.2038G>C|p.Asp680His|2095/6643|2038/3282|680/1093||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|22/26|c.2203G>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|19/26|c.2203G>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|17/26|c.2203G>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|23/26|c.2203G>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|25/26|c.2203G>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|24/26|c.2203G>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|18/26|c.2203G>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|20/26|c.2203G>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|21/26|c.2203G>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|21/25|c.2038G>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|18/25|c.2038G>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|16/25|c.2038G>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|22/25|c.2038G>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|24/25|c.2038G>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|23/25|c.2038G>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|17/25|c.2038G>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|19/25|c.2038G>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|20/25|c.2038G>C||||||,C|downstream_gene_variant|MODIFIER|SNORD56|ENSG00000199783|transcript|ENST00000362913|snoRNA||n.*68C>G|||||3160|,C|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|16/22|n.3229G>C||||||,C|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|17/23|n.2131G>C|||||| 22 25294155 . A C . . ANN=C|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|20/26|c.2404A>C|p.Thr802Pro|2411/4317|2404/3447|802/1148||,C|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|19/25|c.2239A>C|p.Thr747Pro|2296/6643|2239/3282|747/1093||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|22/26|c.2404A>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|19/26|c.2404A>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|17/26|c.2404A>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|23/26|c.2404A>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|25/26|c.2404A>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|24/26|c.2404A>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|18/26|c.2404A>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|20/26|c.2404A>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|21/26|c.2404A>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|21/25|c.2239A>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|18/25|c.2239A>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|16/25|c.2239A>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|22/25|c.2239A>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|24/25|c.2239A>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|23/25|c.2239A>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|17/25|c.2239A>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|19/25|c.2239A>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|20/25|c.2239A>C||||||,C|downstream_gene_variant|MODIFIER|SNORD56|ENSG00000199783|transcript|ENST00000362913|snoRNA||n.*68T>G|||||2959|,C|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|16/22|n.3430A>C||||||,C|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|17/23|n.2332A>C|||||| 22 25294234 . G A . . ANN=A|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|20/26|c.2483G>A|p.Arg828Gln|2490/4317|2483/3447|828/1148||,A|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|19/25|c.2318G>A|p.Arg773Gln|2375/6643|2318/3282|773/1093||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|22/26|c.2483G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|19/26|c.2483G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|17/26|c.2483G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|23/26|c.2483G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|25/26|c.2483G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|24/26|c.2483G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|18/26|c.2483G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|20/26|c.2483G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|21/26|c.2483G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|21/25|c.2318G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|18/25|c.2318G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|16/25|c.2318G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|22/25|c.2318G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|24/25|c.2318G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|23/25|c.2318G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|17/25|c.2318G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|19/25|c.2318G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|20/25|c.2318G>A||||||,A|downstream_gene_variant|MODIFIER|SNORD56|ENSG00000199783|transcript|ENST00000362913|snoRNA||n.*68C>T|||||2880|,A|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|16/22|n.3509G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|17/23|n.2411G>A|||||| 22 25294247 . C T . . ANN=T|synonymous_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|20/26|c.2496C>T|p.Ala832Ala|2503/4317|2496/3447|832/1148||,T|synonymous_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|19/25|c.2331C>T|p.Ala777Ala|2388/6643|2331/3282|777/1093||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|22/26|c.2496C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|19/26|c.2496C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|17/26|c.2496C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|23/26|c.2496C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|25/26|c.2496C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|24/26|c.2496C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|18/26|c.2496C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|20/26|c.2496C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|21/26|c.2496C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|21/25|c.2331C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|18/25|c.2331C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|16/25|c.2331C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|22/25|c.2331C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|24/25|c.2331C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|23/25|c.2331C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|17/25|c.2331C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|19/25|c.2331C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|20/25|c.2331C>T||||||,T|downstream_gene_variant|MODIFIER|SNORD56|ENSG00000199783|transcript|ENST00000362913|snoRNA||n.*68G>A|||||2867|,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|16/22|n.3522C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|17/23|n.2424C>T|||||| 22 25294260 . C T . . ANN=T|synonymous_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|20/26|c.2509C>T|p.Leu837Leu|2516/4317|2509/3447|837/1148||,T|synonymous_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|19/25|c.2344C>T|p.Leu782Leu|2401/6643|2344/3282|782/1093||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|22/26|c.2509C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|19/26|c.2509C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|17/26|c.2509C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|23/26|c.2509C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|25/26|c.2509C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|24/26|c.2509C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|18/26|c.2509C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|20/26|c.2509C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|21/26|c.2509C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|21/25|c.2344C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|18/25|c.2344C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|16/25|c.2344C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|22/25|c.2344C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|24/25|c.2344C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|23/25|c.2344C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|17/25|c.2344C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|19/25|c.2344C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|20/25|c.2344C>T||||||,T|downstream_gene_variant|MODIFIER|SNORD56|ENSG00000199783|transcript|ENST00000362913|snoRNA||n.*68G>A|||||2854|,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|16/22|n.3535C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|17/23|n.2437C>T|||||| 22 25294346 . C T . . ANN=T|synonymous_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|20/26|c.2595C>T|p.Asp865Asp|2602/4317|2595/3447|865/1148||,T|synonymous_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|19/25|c.2430C>T|p.Asp810Asp|2487/6643|2430/3282|810/1093||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|22/26|c.2595C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|19/26|c.2595C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|17/26|c.2595C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|23/26|c.2595C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|25/26|c.2595C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|24/26|c.2595C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|18/26|c.2595C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|20/26|c.2595C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|21/26|c.2595C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|21/25|c.2430C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|18/25|c.2430C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|16/25|c.2430C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|22/25|c.2430C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|24/25|c.2430C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|23/25|c.2430C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|17/25|c.2430C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|19/25|c.2430C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|20/25|c.2430C>T||||||,T|downstream_gene_variant|MODIFIER|SNORD56|ENSG00000199783|transcript|ENST00000362913|snoRNA||n.*68G>A|||||2768|,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|16/22|n.3621C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|17/23|n.2523C>T|||||| 22 25294369 . G A . . ANN=A|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|20/26|c.2618G>A|p.Arg873Lys|2625/4317|2618/3447|873/1148||,A|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|19/25|c.2453G>A|p.Arg818Lys|2510/6643|2453/3282|818/1093||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|22/26|c.2618G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|19/26|c.2618G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|17/26|c.2618G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|23/26|c.2618G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|25/26|c.2618G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|24/26|c.2618G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|18/26|c.2618G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|20/26|c.2618G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|21/26|c.2618G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|21/25|c.2453G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|18/25|c.2453G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|16/25|c.2453G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|22/25|c.2453G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|24/25|c.2453G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|23/25|c.2453G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|17/25|c.2453G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|19/25|c.2453G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|20/25|c.2453G>A||||||,A|downstream_gene_variant|MODIFIER|SNORD56|ENSG00000199783|transcript|ENST00000362913|snoRNA||n.*68C>T|||||2745|,A|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|16/22|n.3644G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|17/23|n.2546G>A|||||| 22 25294376 . C T . . ANN=T|synonymous_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|20/26|c.2625C>T|p.Ser875Ser|2632/4317|2625/3447|875/1148||,T|synonymous_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|19/25|c.2460C>T|p.Ser820Ser|2517/6643|2460/3282|820/1093||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|22/26|c.2625C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|19/26|c.2625C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|17/26|c.2625C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|23/26|c.2625C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|25/26|c.2625C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|24/26|c.2625C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|18/26|c.2625C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|20/26|c.2625C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|21/26|c.2625C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|21/25|c.2460C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|18/25|c.2460C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|16/25|c.2460C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|22/25|c.2460C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|24/25|c.2460C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|23/25|c.2460C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|17/25|c.2460C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|19/25|c.2460C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|20/25|c.2460C>T||||||,T|downstream_gene_variant|MODIFIER|SNORD56|ENSG00000199783|transcript|ENST00000362913|snoRNA||n.*68G>A|||||2738|,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|16/22|n.3651C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|17/23|n.2553C>T|||||| 22 25294399 . C T . . ANN=T|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|20/26|c.2648C>T|p.Ala883Val|2655/4317|2648/3447|883/1148||,T|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|19/25|c.2483C>T|p.Ala828Val|2540/6643|2483/3282|828/1093||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|22/26|c.2648C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|19/26|c.2648C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|17/26|c.2648C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|23/26|c.2648C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|25/26|c.2648C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|24/26|c.2648C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|18/26|c.2648C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|20/26|c.2648C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|21/26|c.2648C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|21/25|c.2483C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|18/25|c.2483C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|16/25|c.2483C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|22/25|c.2483C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|24/25|c.2483C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|23/25|c.2483C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|17/25|c.2483C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|19/25|c.2483C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|20/25|c.2483C>T||||||,T|downstream_gene_variant|MODIFIER|SNORD56|ENSG00000199783|transcript|ENST00000362913|snoRNA||n.*68G>A|||||2715|,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|16/22|n.3674C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|17/23|n.2576C>T|||||| 22 25294420 . C T . . ANN=T|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|20/26|c.2669C>T|p.Ser890Leu|2676/4317|2669/3447|890/1148||,T|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|19/25|c.2504C>T|p.Ser835Leu|2561/6643|2504/3282|835/1093||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|22/26|c.2669C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|19/26|c.2669C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|17/26|c.2669C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|23/26|c.2669C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|25/26|c.2669C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|24/26|c.2669C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|18/26|c.2669C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|20/26|c.2669C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|21/26|c.2669C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|21/25|c.2504C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|18/25|c.2504C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|16/25|c.2504C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|22/25|c.2504C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|24/25|c.2504C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|23/25|c.2504C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|17/25|c.2504C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|19/25|c.2504C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|20/25|c.2504C>T||||||,T|downstream_gene_variant|MODIFIER|SNORD56|ENSG00000199783|transcript|ENST00000362913|snoRNA||n.*68G>A|||||2694|,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|16/22|n.3695C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|17/23|n.2597C>T|||||| 22 25294511 . C T . . ANN=T|synonymous_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|20/26|c.2760C>T|p.Ser920Ser|2767/4317|2760/3447|920/1148||,T|synonymous_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|19/25|c.2595C>T|p.Ser865Ser|2652/6643|2595/3282|865/1093||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|22/26|c.2760C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|19/26|c.2760C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|17/26|c.2760C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|23/26|c.2760C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|25/26|c.2760C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|24/26|c.2760C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|18/26|c.2760C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|20/26|c.2760C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|21/26|c.2760C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|21/25|c.2595C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|18/25|c.2595C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|16/25|c.2595C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|22/25|c.2595C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|24/25|c.2595C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|23/25|c.2595C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|17/25|c.2595C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|19/25|c.2595C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|20/25|c.2595C>T||||||,T|downstream_gene_variant|MODIFIER|SNORD56|ENSG00000199783|transcript|ENST00000362913|snoRNA||n.*68G>A|||||2603|,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|16/22|n.3786C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|17/23|n.2688C>T|||||| 22 25294514 . C T . . ANN=T|synonymous_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|20/26|c.2763C>T|p.Gly921Gly|2770/4317|2763/3447|921/1148||,T|synonymous_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|19/25|c.2598C>T|p.Gly866Gly|2655/6643|2598/3282|866/1093||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|22/26|c.2763C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|19/26|c.2763C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|17/26|c.2763C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|23/26|c.2763C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|25/26|c.2763C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|24/26|c.2763C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|18/26|c.2763C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|20/26|c.2763C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|21/26|c.2763C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|21/25|c.2598C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|18/25|c.2598C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|16/25|c.2598C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|22/25|c.2598C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|24/25|c.2598C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|23/25|c.2598C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|17/25|c.2598C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|19/25|c.2598C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|20/25|c.2598C>T||||||,T|downstream_gene_variant|MODIFIER|SNORD56|ENSG00000199783|transcript|ENST00000362913|snoRNA||n.*68G>A|||||2600|,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|16/22|n.3789C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|17/23|n.2691C>T|||||| 22 25294534 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|20/25|c.2775+8A>G||||||,G|splice_region_variant&intron_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|19/24|c.2610+8A>G||||||,G|splice_region_variant&intron_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|16/21|n.3801+8A>G||||||,G|splice_region_variant&intron_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|17/22|n.2703+8A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|22/26|c.2775+8A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|19/26|c.2775+8A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|17/26|c.2775+8A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|23/26|c.2775+8A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|25/26|c.2775+8A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|24/26|c.2775+8A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|18/26|c.2775+8A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|20/26|c.2775+8A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|21/26|c.2775+8A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|21/25|c.2610+8A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|18/25|c.2610+8A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|16/25|c.2610+8A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|22/25|c.2610+8A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|24/25|c.2610+8A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|23/25|c.2610+8A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|17/25|c.2610+8A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|19/25|c.2610+8A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|20/25|c.2610+8A>G||||||,G|downstream_gene_variant|MODIFIER|SNORD56|ENSG00000199783|transcript|ENST00000362913|snoRNA||n.*68T>C|||||2580| 22 25294539 . G A . . ANN=A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|22/26|c.2775+13G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|19/26|c.2775+13G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|17/26|c.2775+13G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|23/26|c.2775+13G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|25/26|c.2775+13G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|24/26|c.2775+13G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|18/26|c.2775+13G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|20/26|c.2775+13G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|21/26|c.2775+13G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|21/25|c.2610+13G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|18/25|c.2610+13G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|16/25|c.2610+13G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|22/25|c.2610+13G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|24/25|c.2610+13G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|23/25|c.2610+13G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|17/25|c.2610+13G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|19/25|c.2610+13G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|20/25|c.2610+13G>A||||||,A|downstream_gene_variant|MODIFIER|SNORD56|ENSG00000199783|transcript|ENST00000362913|snoRNA||n.*68C>T|||||2575|,A|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|20/25|c.2775+13G>A||||||,A|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|19/24|c.2610+13G>A||||||,A|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|16/21|n.3801+13G>A||||||,A|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|17/22|n.2703+13G>A|||||| 22 25297751 . A G . . ANN=G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|22/26|c.2776-49A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|19/26|c.2776-49A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|17/26|c.2776-49A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|23/26|c.2776-49A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|25/26|c.2776-49A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|24/26|c.2776-49A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|18/26|c.2776-49A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|20/26|c.2776-49A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|21/26|c.2776-49A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|21/25|c.2611-49A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|18/25|c.2611-49A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|16/25|c.2611-49A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|22/25|c.2611-49A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|24/25|c.2611-49A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|23/25|c.2611-49A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|17/25|c.2611-49A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|19/25|c.2611-49A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|20/25|c.2611-49A>G||||||,G|upstream_gene_variant|MODIFIER|SNORD56|ENSG00000199783|transcript|ENST00000362913|snoRNA||n.-1T>C|||||570|,G|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|20/25|c.2776-49A>G||||||,G|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|19/24|c.2611-49A>G||||||,G|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|16/21|n.3802-49A>G||||||,G|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|17/22|n.2704-49A>G|||||| 22 25297755 . G A . . ANN=A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|22/26|c.2776-45G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|19/26|c.2776-45G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|17/26|c.2776-45G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|23/26|c.2776-45G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|25/26|c.2776-45G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|24/26|c.2776-45G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|18/26|c.2776-45G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|20/26|c.2776-45G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|21/26|c.2776-45G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|21/25|c.2611-45G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|18/25|c.2611-45G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|16/25|c.2611-45G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|22/25|c.2611-45G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|24/25|c.2611-45G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|23/25|c.2611-45G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|17/25|c.2611-45G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|19/25|c.2611-45G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|20/25|c.2611-45G>A||||||,A|upstream_gene_variant|MODIFIER|SNORD56|ENSG00000199783|transcript|ENST00000362913|snoRNA||n.-1C>T|||||574|,A|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|20/25|c.2776-45G>A||||||,A|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|19/24|c.2611-45G>A||||||,A|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|16/21|n.3802-45G>A||||||,A|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|17/22|n.2704-45G>A|||||| 22 25297771 . C A . . ANN=A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|22/26|c.2776-29C>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|19/26|c.2776-29C>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|17/26|c.2776-29C>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|23/26|c.2776-29C>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|25/26|c.2776-29C>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|24/26|c.2776-29C>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|18/26|c.2776-29C>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|20/26|c.2776-29C>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|21/26|c.2776-29C>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|21/25|c.2611-29C>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|18/25|c.2611-29C>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|16/25|c.2611-29C>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|22/25|c.2611-29C>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|24/25|c.2611-29C>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|23/25|c.2611-29C>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|17/25|c.2611-29C>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|19/25|c.2611-29C>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|20/25|c.2611-29C>A||||||,A|upstream_gene_variant|MODIFIER|SNORD56|ENSG00000199783|transcript|ENST00000362913|snoRNA||n.-1G>T|||||590|,A|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|20/25|c.2776-29C>A||||||,A|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|19/24|c.2611-29C>A||||||,A|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|16/21|n.3802-29C>A||||||,A|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|17/22|n.2704-29C>A|||||| 22 25297780 . C G . . ANN=G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|22/26|c.2776-20C>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|19/26|c.2776-20C>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|17/26|c.2776-20C>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|23/26|c.2776-20C>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|25/26|c.2776-20C>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|24/26|c.2776-20C>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|18/26|c.2776-20C>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|20/26|c.2776-20C>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|21/26|c.2776-20C>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|21/25|c.2611-20C>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|18/25|c.2611-20C>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|16/25|c.2611-20C>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|22/25|c.2611-20C>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|24/25|c.2611-20C>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|23/25|c.2611-20C>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|17/25|c.2611-20C>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|19/25|c.2611-20C>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|20/25|c.2611-20C>G||||||,G|upstream_gene_variant|MODIFIER|SNORD56|ENSG00000199783|transcript|ENST00000362913|snoRNA||n.-1G>C|||||599|,G|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|20/25|c.2776-20C>G||||||,G|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|19/24|c.2611-20C>G||||||,G|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|16/21|n.3802-20C>G||||||,G|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|17/22|n.2704-20C>G|||||| 22 25297856 . G A . . ANN=A|synonymous_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|21/26|c.2832G>A|p.Gln944Gln|2839/4317|2832/3447|944/1148||,A|synonymous_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|20/25|c.2667G>A|p.Gln889Gln|2724/6643|2667/3282|889/1093||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|22/26|c.2832G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|19/26|c.2832G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|17/26|c.2832G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|23/26|c.2832G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|25/26|c.2832G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|24/26|c.2832G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|18/26|c.2832G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|20/26|c.2832G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|21/26|c.2832G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|21/25|c.2667G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|18/25|c.2667G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|16/25|c.2667G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|22/25|c.2667G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|24/25|c.2667G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|23/25|c.2667G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|17/25|c.2667G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|19/25|c.2667G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|20/25|c.2667G>A||||||,A|upstream_gene_variant|MODIFIER|SNORD56|ENSG00000199783|transcript|ENST00000362913|snoRNA||n.-1C>T|||||675|,A|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|17/22|n.3858G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|18/23|n.2760G>A|||||| 22 25297965 . T C . . ANN=C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|22/26|c.2900+41T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|19/26|c.2900+41T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|17/26|c.2900+41T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|23/26|c.2900+41T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|25/26|c.2900+41T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|24/26|c.2900+41T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|18/26|c.2900+41T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|20/26|c.2900+41T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|21/26|c.2900+41T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|21/25|c.2735+41T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|18/25|c.2735+41T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|16/25|c.2735+41T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|22/25|c.2735+41T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|24/25|c.2735+41T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|23/25|c.2735+41T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|17/25|c.2735+41T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|19/25|c.2735+41T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|20/25|c.2735+41T>C||||||,C|upstream_gene_variant|MODIFIER|SNORD56|ENSG00000199783|transcript|ENST00000362913|snoRNA||n.-1A>G|||||784|,C|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|21/25|c.2900+41T>C||||||,C|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|20/24|c.2735+41T>C||||||,C|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|17/21|n.3926+41T>C||||||,C|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|18/22|n.2828+41T>C|||||| 22 25301037 . C T . . ANN=T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|22/26|c.2901-35C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|19/26|c.2901-35C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|17/26|c.2901-35C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|23/26|c.2901-35C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|25/26|c.2901-35C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|24/26|c.2901-35C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|18/26|c.2901-35C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|20/26|c.2901-35C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|21/26|c.2901-35C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|21/25|c.2736-35C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|18/25|c.2736-35C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|16/25|c.2736-35C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|22/25|c.2736-35C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|24/25|c.2736-35C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|23/25|c.2736-35C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|17/25|c.2736-35C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|19/25|c.2736-35C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|20/25|c.2736-35C>T||||||,T|upstream_gene_variant|MODIFIER|SNORD56|ENSG00000199783|transcript|ENST00000362913|snoRNA||n.-1G>A|||||3856|,T|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|21/25|c.2901-35C>T||||||,T|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|20/24|c.2736-35C>T||||||,T|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|17/21|n.3927-35C>T||||||,T|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|18/22|n.2829-35C>T|||||| 22 25301038 . G A . . ANN=A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|22/26|c.2901-34G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|19/26|c.2901-34G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|17/26|c.2901-34G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|23/26|c.2901-34G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|25/26|c.2901-34G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|24/26|c.2901-34G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|18/26|c.2901-34G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|20/26|c.2901-34G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|21/26|c.2901-34G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|21/25|c.2736-34G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|18/25|c.2736-34G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|16/25|c.2736-34G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|22/25|c.2736-34G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|24/25|c.2736-34G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|23/25|c.2736-34G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|17/25|c.2736-34G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|19/25|c.2736-34G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|20/25|c.2736-34G>A||||||,A|upstream_gene_variant|MODIFIER|SNORD56|ENSG00000199783|transcript|ENST00000362913|snoRNA||n.-1C>T|||||3857|,A|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|21/25|c.2901-34G>A||||||,A|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|20/24|c.2736-34G>A||||||,A|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|17/21|n.3927-34G>A||||||,A|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|18/22|n.2829-34G>A|||||| 22 25301142 . A G . . ANN=G|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|22/26|c.2971A>G|p.Ile991Val|2978/4317|2971/3447|991/1148||,G|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|21/25|c.2806A>G|p.Ile936Val|2863/6643|2806/3282|936/1093||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|22/26|c.2971A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|19/26|c.2971A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|17/26|c.2971A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|23/26|c.2971A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|25/26|c.2971A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|24/26|c.2971A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|18/26|c.2971A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|20/26|c.2971A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|21/26|c.2971A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|21/25|c.2806A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|18/25|c.2806A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|16/25|c.2806A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|22/25|c.2806A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|24/25|c.2806A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|23/25|c.2806A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|17/25|c.2806A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|19/25|c.2806A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|20/25|c.2806A>G||||||,G|upstream_gene_variant|MODIFIER|SNORD56|ENSG00000199783|transcript|ENST00000362913|snoRNA||n.-1T>C|||||3961|,G|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|18/22|n.3997A>G||||||,G|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|19/23|n.2899A>G|||||| 22 25308602 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|22/25|c.2984-8T>C||||||,C|splice_region_variant&intron_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|21/24|c.2819-8T>C||||||,C|splice_region_variant&intron_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|18/21|n.4010-8T>C||||||,C|splice_region_variant&intron_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|19/22|n.2912-8T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|22/26|c.2984-8T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|19/26|c.2984-8T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|17/26|c.2984-8T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|23/26|c.2984-8T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|25/26|c.2984-8T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|24/26|c.2984-8T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|18/26|c.2984-8T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|20/26|c.2984-8T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|21/26|c.2984-8T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|21/25|c.2819-8T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|18/25|c.2819-8T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|16/25|c.2819-8T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|22/25|c.2819-8T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|24/25|c.2819-8T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|23/25|c.2819-8T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|17/25|c.2819-8T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|19/25|c.2819-8T>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|20/25|c.2819-8T>C|||||| 22 25308671 . C T . . ANN=T|synonymous_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|23/26|c.3045C>T|p.His1015His|3052/4317|3045/3447|1015/1148||,T|synonymous_variant|LOW|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|22/25|c.2880C>T|p.His960His|2937/6643|2880/3282|960/1093||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|22/26|c.3045C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|19/26|c.3045C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|17/26|c.3045C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|23/26|c.3045C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|25/26|c.3045C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|24/26|c.3045C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|18/26|c.3045C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|20/26|c.3045C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|21/26|c.3045C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|21/25|c.2880C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|18/25|c.2880C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|16/25|c.2880C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|22/25|c.2880C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|24/25|c.2880C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|23/25|c.2880C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|17/25|c.2880C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|19/25|c.2880C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|20/25|c.2880C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|19/22|n.4071C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|20/23|n.2973C>T|||||| 22 25315753 . G A . . ANN=A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|22/26|c.3191-40G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|19/26|c.3191-40G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|17/26|c.3191-40G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|23/26|c.3191-40G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|25/26|c.3191-40G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|24/26|c.3191-40G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|18/26|c.3191-40G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|20/26|c.3191-40G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|21/26|c.3191-40G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|21/25|c.3026-40G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|18/25|c.3026-40G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|16/25|c.3026-40G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|22/25|c.3026-40G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|24/25|c.3026-40G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|23/25|c.3026-40G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|17/25|c.3026-40G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|19/25|c.3026-40G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|20/25|c.3026-40G>A||||||,A|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|24/25|c.3191-40G>A||||||,A|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|23/24|c.3026-40G>A||||||,A|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|20/21|n.4217-40G>A||||||,A|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|21/22|n.3119-40G>A|||||| 22 25315760 . A G . . ANN=G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|22/26|c.3191-33A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|19/26|c.3191-33A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|17/26|c.3191-33A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|23/26|c.3191-33A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|25/26|c.3191-33A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|24/26|c.3191-33A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|18/26|c.3191-33A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|20/26|c.3191-33A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|21/26|c.3191-33A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|21/25|c.3026-33A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|18/25|c.3026-33A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|16/25|c.3026-33A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|22/25|c.3026-33A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|24/25|c.3026-33A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|23/25|c.3026-33A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|17/25|c.3026-33A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|19/25|c.3026-33A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|20/25|c.3026-33A>G||||||,G|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|24/25|c.3191-33A>G||||||,G|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|23/24|c.3026-33A>G||||||,G|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|20/21|n.4217-33A>G||||||,G|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|21/22|n.3119-33A>G|||||| 22 25315849 . G A . . ANN=A|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|25/26|c.3247G>A|p.Val1083Ile|3254/4317|3247/3447|1083/1148||,A|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|24/25|c.3082G>A|p.Val1028Ile|3139/6643|3082/3282|1028/1093||,A|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|21/22|n.4273G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|22/23|n.3175G>A|||||| 22 25320250 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|26/26|c.*9T>C|||||9|,C|3_prime_UTR_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|25/25|c.*9T>C|||||9|,C|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|22/22|n.4482T>C||||||,C|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|23/23|n.3384T>C|||||| 22 25320256 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|26/26|c.*15C>T|||||15|,T|3_prime_UTR_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|25/25|c.*15C>T|||||15|,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|22/22|n.4488C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|23/23|n.3390C>T|||||| 22 25331271 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|TMEM211|ENSG00000206069|transcript|ENST00000423535|protein_coding|3/3|c.*29C>T|||||29|,A|3_prime_UTR_variant|MODIFIER|TMEM211|ENSG00000206069|transcript|ENST00000407886|protein_coding|4/4|c.*29C>T|||||29|,A|3_prime_UTR_variant|MODIFIER|TMEM211|ENSG00000206069|transcript|ENST00000382744|protein_coding|3/3|c.*29C>T|||||29| 22 25331451 . C T . . ANN=T|missense_variant|MODERATE|TMEM211|ENSG00000206069|transcript|ENST00000423535|protein_coding|3/3|c.452G>A|p.Gly151Asp|452/695|452/603|151/200||,T|missense_variant|MODERATE|TMEM211|ENSG00000206069|transcript|ENST00000407886|protein_coding|4/4|c.239G>A|p.Gly80Asp|492/866|239/390|80/129||,T|missense_variant|MODERATE|TMEM211|ENSG00000206069|transcript|ENST00000382744|protein_coding|3/3|c.239G>A|p.Gly80Asp|264/507|239/390|80/129||,T|sequence_feature|LOW|TMEM211|ENSG00000206069|transmembrane_region:Transmembrane_region|ENST00000423535|protein_coding|3/3|c.452G>A|||||| 22 25331492 . G A . . ANN=A|synonymous_variant|LOW|TMEM211|ENSG00000206069|transcript|ENST00000423535|protein_coding|3/3|c.411C>T|p.Cys137Cys|411/695|411/603|137/200||,A|synonymous_variant|LOW|TMEM211|ENSG00000206069|transcript|ENST00000407886|protein_coding|4/4|c.198C>T|p.Cys66Cys|451/866|198/390|66/129||,A|synonymous_variant|LOW|TMEM211|ENSG00000206069|transcript|ENST00000382744|protein_coding|3/3|c.198C>T|p.Cys66Cys|223/507|198/390|66/129|| 22 25331546 . C A . . ANN=A|synonymous_variant|LOW|TMEM211|ENSG00000206069|transcript|ENST00000423535|protein_coding|3/3|c.357G>T|p.Val119Val|357/695|357/603|119/200||,A|synonymous_variant|LOW|TMEM211|ENSG00000206069|transcript|ENST00000407886|protein_coding|4/4|c.144G>T|p.Val48Val|397/866|144/390|48/129||,A|synonymous_variant|LOW|TMEM211|ENSG00000206069|transcript|ENST00000382744|protein_coding|3/3|c.144G>T|p.Val48Val|169/507|144/390|48/129||,A|sequence_feature|LOW|TMEM211|ENSG00000206069|transmembrane_region:Transmembrane_region|ENST00000423535|protein_coding|2/3|c.357G>T||||||,A|sequence_feature|LOW|TMEM211|ENSG00000206069|transmembrane_region:Transmembrane_region|ENST00000423535|protein_coding|3/3|c.357G>T|||||| 22 25334094 . T C . . ANN=C|sequence_feature|LOW|TMEM211|ENSG00000206069|transmembrane_region:Transmembrane_region|ENST00000423535|protein_coding|2/3|c.340+22A>G||||||,C|sequence_feature|LOW|TMEM211|ENSG00000206069|transmembrane_region:Transmembrane_region|ENST00000423535|protein_coding|3/3|c.340+22A>G||||||,C|intron_variant|MODIFIER|TMEM211|ENSG00000206069|transcript|ENST00000423535|protein_coding|2/2|c.340+22A>G||||||,C|intron_variant|MODIFIER|TMEM211|ENSG00000206069|transcript|ENST00000407886|protein_coding|3/3|c.127+22A>G||||||,C|intron_variant|MODIFIER|TMEM211|ENSG00000206069|transcript|ENST00000382744|protein_coding|2/2|c.127+22A>G|||||| 22 25334184 . G T . . ANN=T|missense_variant|MODERATE|TMEM211|ENSG00000206069|transcript|ENST00000423535|protein_coding|2/3|c.272C>A|p.Ala91Asp|272/695|272/603|91/200||,T|missense_variant|MODERATE|TMEM211|ENSG00000206069|transcript|ENST00000407886|protein_coding|3/4|c.59C>A|p.Ala20Asp|312/866|59/390|20/129||,T|missense_variant|MODERATE|TMEM211|ENSG00000206069|transcript|ENST00000382744|protein_coding|2/3|c.59C>A|p.Ala20Asp|84/507|59/390|20/129|| 22 25334292 . C G . . ANN=G|intron_variant|MODIFIER|TMEM211|ENSG00000206069|transcript|ENST00000423535|protein_coding|1/2|c.202-38G>C||||||,G|intron_variant|MODIFIER|TMEM211|ENSG00000206069|transcript|ENST00000407886|protein_coding|2/3|c.-12-38G>C||||||,G|intron_variant|MODIFIER|TMEM211|ENSG00000206069|transcript|ENST00000382744|protein_coding|1/2|c.-12-38G>C|||||| 22 25597331 . T C . . ANN=C|downstream_gene_variant|MODIFIER|KIAA1671|ENSG00000197077|transcript|ENST00000358431|protein_coding||c.*5447T>C|||||3920|,C|downstream_gene_variant|MODIFIER|KIAA1671|ENSG00000197077|transcript|ENST00000401395|protein_coding||c.*1339T>C|||||3916|,C|intron_variant|MODIFIER|CRYBB3|ENSG00000100053|transcript|ENST00000215855|protein_coding|1/5|c.-20-13T>C||||||,C|intron_variant|MODIFIER|CRYBB3|ENSG00000100053|transcript|ENST00000404334|protein_coding|1/4|c.-16-17T>C|||||| 22 25597369 . G A . . ANN=A|sequence_feature|MODERATE|CRYBB3|ENSG00000100053|amino_acid_modification:N-acetylalanine|ENST00000215855|protein_coding|2/6|c.6G>A||||||,A|synonymous_variant|LOW|CRYBB3|ENSG00000100053|transcript|ENST00000215855|protein_coding|2/6|c.6G>A|p.Ala2Ala|86/867|6/636|2/211||,A|synonymous_variant|LOW|CRYBB3|ENSG00000100053|transcript|ENST00000404334|protein_coding|2/5|c.6G>A|p.Ala2Ala|59/601|6/342|2/113||,A|sequence_feature|LOW|CRYBB3|ENSG00000100053|region_of_interest:N-terminal_arm|ENST00000215855|protein_coding|2/6|c.6G>A||||||,A|downstream_gene_variant|MODIFIER|KIAA1671|ENSG00000197077|transcript|ENST00000358431|protein_coding||c.*5447G>A|||||3958|,A|downstream_gene_variant|MODIFIER|KIAA1671|ENSG00000197077|transcript|ENST00000401395|protein_coding||c.*1339G>A|||||3954| 22 25597384 . A G . . ANN=G|synonymous_variant|LOW|CRYBB3|ENSG00000100053|transcript|ENST00000215855|protein_coding|2/6|c.21A>G|p.Ala7Ala|101/867|21/636|7/211||,G|synonymous_variant|LOW|CRYBB3|ENSG00000100053|transcript|ENST00000404334|protein_coding|2/5|c.21A>G|p.Ala7Ala|74/601|21/342|7/113||,G|sequence_feature|LOW|CRYBB3|ENSG00000100053|region_of_interest:N-terminal_arm|ENST00000215855|protein_coding|2/6|c.21A>G||||||,G|downstream_gene_variant|MODIFIER|KIAA1671|ENSG00000197077|transcript|ENST00000358431|protein_coding||c.*5447A>G|||||3973|,G|downstream_gene_variant|MODIFIER|KIAA1671|ENSG00000197077|transcript|ENST00000401395|protein_coding||c.*1339A>G|||||3969| 22 25597401 . C G . . ANN=G|missense_variant|MODERATE|CRYBB3|ENSG00000100053|transcript|ENST00000215855|protein_coding|2/6|c.38C>G|p.Ala13Gly|118/867|38/636|13/211||,G|missense_variant|MODERATE|CRYBB3|ENSG00000100053|transcript|ENST00000404334|protein_coding|2/5|c.38C>G|p.Ala13Gly|91/601|38/342|13/113||,G|sequence_feature|LOW|CRYBB3|ENSG00000100053|region_of_interest:N-terminal_arm|ENST00000215855|protein_coding|2/6|c.38C>G||||||,G|downstream_gene_variant|MODIFIER|KIAA1671|ENSG00000197077|transcript|ENST00000358431|protein_coding||c.*5447C>G|||||3990|,G|downstream_gene_variant|MODIFIER|KIAA1671|ENSG00000197077|transcript|ENST00000401395|protein_coding||c.*1339C>G|||||3986| 22 25597456 . G A . . ANN=A|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_1|ENST00000215855|protein_coding|3/6|c.75+18G>A||||||,A|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_1|ENST00000215855|protein_coding|2/6|c.75+18G>A||||||,A|sequence_feature|LOW|CRYBB3|ENSG00000100053|beta_strand|ENST00000215855|protein_coding|3/6|c.75+18G>A||||||,A|sequence_feature|LOW|CRYBB3|ENSG00000100053|beta_strand|ENST00000215855|protein_coding|2/6|c.75+18G>A||||||,A|downstream_gene_variant|MODIFIER|KIAA1671|ENSG00000197077|transcript|ENST00000358431|protein_coding||c.*5447G>A|||||4045|,A|downstream_gene_variant|MODIFIER|KIAA1671|ENSG00000197077|transcript|ENST00000401395|protein_coding||c.*1339G>A|||||4041|,A|intron_variant|MODIFIER|CRYBB3|ENSG00000100053|transcript|ENST00000215855|protein_coding|2/5|c.75+18G>A||||||,A|intron_variant|MODIFIER|CRYBB3|ENSG00000100053|transcript|ENST00000404334|protein_coding|2/4|c.75+18G>A|||||| 22 25597467 . C T . . ANN=T|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_1|ENST00000215855|protein_coding|3/6|c.75+29C>T||||||,T|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_1|ENST00000215855|protein_coding|2/6|c.75+29C>T||||||,T|sequence_feature|LOW|CRYBB3|ENSG00000100053|beta_strand|ENST00000215855|protein_coding|3/6|c.75+29C>T||||||,T|sequence_feature|LOW|CRYBB3|ENSG00000100053|beta_strand|ENST00000215855|protein_coding|2/6|c.75+29C>T||||||,T|downstream_gene_variant|MODIFIER|KIAA1671|ENSG00000197077|transcript|ENST00000358431|protein_coding||c.*5447C>T|||||4056|,T|downstream_gene_variant|MODIFIER|KIAA1671|ENSG00000197077|transcript|ENST00000401395|protein_coding||c.*1339C>T|||||4052|,T|intron_variant|MODIFIER|CRYBB3|ENSG00000100053|transcript|ENST00000215855|protein_coding|2/5|c.75+29C>T||||||,T|intron_variant|MODIFIER|CRYBB3|ENSG00000100053|transcript|ENST00000404334|protein_coding|2/4|c.75+29C>T|||||| 22 25598661 . G T . . ANN=T|missense_variant|MODERATE|CRYBB3|ENSG00000100053|transcript|ENST00000215855|protein_coding|3/6|c.96G>T|p.Glu32Asp|176/867|96/636|32/211||,T|missense_variant|MODERATE|CRYBB3|ENSG00000100053|transcript|ENST00000404334|protein_coding|3/5|c.96G>T|p.Glu32Asp|149/601|96/342|32/113||,T|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_1|ENST00000215855|protein_coding|3/6|c.96G>T||||||,T|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_1|ENST00000215855|protein_coding|2/6|c.96G>T||||||,T|sequence_feature|LOW|CRYBB3|ENSG00000100053|helix|ENST00000215855|protein_coding|3/6|c.96G>T|||||| 22 25598664 . C T . . ANN=T|synonymous_variant|LOW|CRYBB3|ENSG00000100053|transcript|ENST00000215855|protein_coding|3/6|c.99C>T|p.Asn33Asn|179/867|99/636|33/211||,T|synonymous_variant|LOW|CRYBB3|ENSG00000100053|transcript|ENST00000404334|protein_coding|3/5|c.99C>T|p.Asn33Asn|152/601|99/342|33/113||,T|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_1|ENST00000215855|protein_coding|3/6|c.99C>T||||||,T|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_1|ENST00000215855|protein_coding|2/6|c.99C>T||||||,T|sequence_feature|LOW|CRYBB3|ENSG00000100053|helix|ENST00000215855|protein_coding|3/6|c.99C>T|||||| 22 25598690 . C T . . ANN=T|missense_variant|MODERATE|CRYBB3|ENSG00000100053|transcript|ENST00000215855|protein_coding|3/6|c.125C>T|p.Ser42Leu|205/867|125/636|42/211||,T|missense_variant|MODERATE|CRYBB3|ENSG00000100053|transcript|ENST00000404334|protein_coding|3/5|c.125C>T|p.Ser42Leu|178/601|125/342|42/113||,T|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_1|ENST00000215855|protein_coding|3/6|c.125C>T||||||,T|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_1|ENST00000215855|protein_coding|2/6|c.125C>T||||||,T|sequence_feature|LOW|CRYBB3|ENSG00000100053|beta_strand|ENST00000215855|protein_coding|3/6|c.125C>T|||||| 22 25598782 . C T . . ANN=T|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_2|ENST00000215855|protein_coding|3/6|c.194+23C>T||||||,T|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_2|ENST00000215855|protein_coding|4/6|c.194+23C>T||||||,T|intron_variant|MODIFIER|CRYBB3|ENSG00000100053|transcript|ENST00000215855|protein_coding|3/5|c.194+23C>T||||||,T|intron_variant|MODIFIER|CRYBB3|ENSG00000100053|transcript|ENST00000404334|protein_coding|3/4|c.194+23C>T|||||| 22 25598790 . C T . . ANN=T|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_2|ENST00000215855|protein_coding|3/6|c.194+31C>T||||||,T|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_2|ENST00000215855|protein_coding|4/6|c.194+31C>T||||||,T|intron_variant|MODIFIER|CRYBB3|ENSG00000100053|transcript|ENST00000215855|protein_coding|3/5|c.194+31C>T||||||,T|intron_variant|MODIFIER|CRYBB3|ENSG00000100053|transcript|ENST00000404334|protein_coding|3/4|c.194+31C>T|||||| 22 25599723 . C G . . ANN=G|splice_region_variant&intron_variant|LOW|CRYBB3|ENSG00000100053|transcript|ENST00000215855|protein_coding|3/5|c.195-7C>G||||||,G|splice_region_variant&intron_variant|LOW|CRYBB3|ENSG00000100053|transcript|ENST00000404334|protein_coding|3/4|c.195-7C>G||||||,G|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_2|ENST00000215855|protein_coding|3/6|c.195-7C>G||||||,G|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_2|ENST00000215855|protein_coding|4/6|c.195-7C>G|||||| 22 25599759 . G A . . ANN=A|missense_variant|MODERATE|CRYBB3|ENSG00000100053|transcript|ENST00000215855|protein_coding|4/6|c.224G>A|p.Arg75His|304/867|224/636|75/211||,A|missense_variant|MODERATE|CRYBB3|ENSG00000100053|transcript|ENST00000404334|protein_coding|4/5|c.224G>A|p.Arg75His|277/601|224/342|75/113||,A|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_2|ENST00000215855|protein_coding|3/6|c.224G>A||||||,A|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_2|ENST00000215855|protein_coding|4/6|c.224G>A|||||| 22 25599769 . G A . . ANN=A|synonymous_variant|LOW|CRYBB3|ENSG00000100053|transcript|ENST00000215855|protein_coding|4/6|c.234G>A|p.Gln78Gln|314/867|234/636|78/211||,A|synonymous_variant|LOW|CRYBB3|ENSG00000100053|transcript|ENST00000404334|protein_coding|4/5|c.234G>A|p.Gln78Gln|287/601|234/342|78/113||,A|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_2|ENST00000215855|protein_coding|3/6|c.234G>A||||||,A|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_2|ENST00000215855|protein_coding|4/6|c.234G>A||||||,A|sequence_feature|LOW|CRYBB3|ENSG00000100053|beta_strand|ENST00000215855|protein_coding|4/6|c.234G>A|||||| 22 25599770 . T A . . ANN=A|missense_variant|MODERATE|CRYBB3|ENSG00000100053|transcript|ENST00000215855|protein_coding|4/6|c.235T>A|p.Phe79Ile|315/867|235/636|79/211||,A|missense_variant|MODERATE|CRYBB3|ENSG00000100053|transcript|ENST00000404334|protein_coding|4/5|c.235T>A|p.Phe79Ile|288/601|235/342|79/113||,A|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_2|ENST00000215855|protein_coding|3/6|c.235T>A||||||,A|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_2|ENST00000215855|protein_coding|4/6|c.235T>A||||||,A|sequence_feature|LOW|CRYBB3|ENSG00000100053|beta_strand|ENST00000215855|protein_coding|4/6|c.235T>A|||||| 22 25599849 . G A . . ANN=A|missense_variant|MODERATE|CRYBB3|ENSG00000100053|transcript|ENST00000215855|protein_coding|4/6|c.314G>A|p.Arg105Gln|394/867|314/636|105/211||,A|missense_variant|MODERATE|CRYBB3|ENSG00000100053|transcript|ENST00000404334|protein_coding|4/5|c.314G>A|p.Arg105Gln|367/601|314/342|105/113||,A|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_2|ENST00000215855|protein_coding|3/6|c.314G>A||||||,A|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_2|ENST00000215855|protein_coding|4/6|c.314G>A||||||,A|sequence_feature|LOW|CRYBB3|ENSG00000100053|beta_strand|ENST00000215855|protein_coding|4/6|c.314G>A|||||| 22 25601173 . G A . . ANN=A|sequence_feature|LOW|CRYBB3|ENSG00000100053|region_of_interest:Connecting_peptide|ENST00000215855|protein_coding|5/6|c.328-14G>A||||||,A|sequence_feature|LOW|CRYBB3|ENSG00000100053|region_of_interest:Connecting_peptide|ENST00000215855|protein_coding|4/6|c.328-14G>A||||||,A|intron_variant|MODIFIER|CRYBB3|ENSG00000100053|transcript|ENST00000215855|protein_coding|4/5|c.328-14G>A||||||,A|intron_variant|MODIFIER|CRYBB3|ENSG00000100053|transcript|ENST00000404334|protein_coding|4/4|c.327+1311G>A|||||| 22 25601196 . C G . . ANN=G|missense_variant|MODERATE|CRYBB3|ENSG00000100053|transcript|ENST00000215855|protein_coding|5/6|c.337C>G|p.His113Asp|417/867|337/636|113/211||,G|sequence_feature|LOW|CRYBB3|ENSG00000100053|region_of_interest:Connecting_peptide|ENST00000215855|protein_coding|5/6|c.337C>G||||||,G|sequence_feature|LOW|CRYBB3|ENSG00000100053|region_of_interest:Connecting_peptide|ENST00000215855|protein_coding|4/6|c.337C>G||||||,G|intron_variant|MODIFIER|CRYBB3|ENSG00000100053|transcript|ENST00000404334|protein_coding|4/4|c.327+1334C>G|||||| 22 25601239 . G A . . ANN=A|missense_variant|MODERATE|CRYBB3|ENSG00000100053|transcript|ENST00000215855|protein_coding|5/6|c.380G>A|p.Arg127His|460/867|380/636|127/211||,A|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_3|ENST00000215855|protein_coding|5/6|c.380G>A||||||,A|sequence_feature|LOW|CRYBB3|ENSG00000100053|beta_strand|ENST00000215855|protein_coding|5/6|c.380G>A||||||,A|intron_variant|MODIFIER|CRYBB3|ENSG00000100053|transcript|ENST00000404334|protein_coding|4/4|c.327+1377G>A|||||| 22 25601251 . T C . . ANN=C|missense_variant|MODERATE|CRYBB3|ENSG00000100053|transcript|ENST00000215855|protein_coding|5/6|c.392T>C|p.Ile131Thr|472/867|392/636|131/211||,C|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_3|ENST00000215855|protein_coding|5/6|c.392T>C||||||,C|sequence_feature|LOW|CRYBB3|ENSG00000100053|beta_strand|ENST00000215855|protein_coding|5/6|c.392T>C||||||,C|intron_variant|MODIFIER|CRYBB3|ENSG00000100053|transcript|ENST00000404334|protein_coding|4/4|c.327+1389T>C|||||| 22 25602990 . A G . . ANN=G|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_4|ENST00000215855|protein_coding|5/6|c.471-24A>G||||||,G|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_4|ENST00000215855|protein_coding|6/6|c.471-24A>G||||||,G|intron_variant|MODIFIER|CRYBB3|ENSG00000100053|transcript|ENST00000215855|protein_coding|5/5|c.471-24A>G||||||,G|intron_variant|MODIFIER|CRYBB3|ENSG00000100053|transcript|ENST00000404334|protein_coding|4/4|c.328-24A>G|||||| 22 25603008 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|CRYBB3|ENSG00000100053|transcript|ENST00000215855|protein_coding|5/5|c.471-6C>T||||||,T|splice_region_variant&intron_variant|LOW|CRYBB3|ENSG00000100053|transcript|ENST00000404334|protein_coding|4/4|c.328-6C>T||||||,T|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_4|ENST00000215855|protein_coding|5/6|c.471-6C>T||||||,T|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_4|ENST00000215855|protein_coding|6/6|c.471-6C>T|||||| 22 25603018 . G A . . ANN=A|missense_variant|MODERATE|CRYBB3|ENSG00000100053|transcript|ENST00000215855|protein_coding|6/6|c.475G>A|p.Val159Ile|555/867|475/636|159/211||,A|missense_variant|MODERATE|CRYBB3|ENSG00000100053|transcript|ENST00000404334|protein_coding|5/5|c.332G>A|p.Gly111Asp|385/601|332/342|111/113||,A|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_4|ENST00000215855|protein_coding|5/6|c.475G>A||||||,A|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_4|ENST00000215855|protein_coding|6/6|c.475G>A||||||,A|sequence_feature|LOW|CRYBB3|ENSG00000100053|beta_strand|ENST00000215855|protein_coding|6/6|c.475G>A|||||| 22 25603035 . C A . . ANN=A|synonymous_variant|LOW|CRYBB3|ENSG00000100053|transcript|ENST00000215855|protein_coding|6/6|c.492C>A|p.Pro164Pro|572/867|492/636|164/211||,A|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_4|ENST00000215855|protein_coding|5/6|c.492C>A||||||,A|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_4|ENST00000215855|protein_coding|6/6|c.492C>A||||||,A|sequence_feature|LOW|CRYBB3|ENSG00000100053|turn|ENST00000215855|protein_coding|6/6|c.492C>A||||||,A|3_prime_UTR_variant|MODIFIER|CRYBB3|ENSG00000100053|transcript|ENST00000404334|protein_coding|5/5|c.*7C>A|||||7| 22 25603067 . G A . . ANN=A|missense_variant|MODERATE|CRYBB3|ENSG00000100053|transcript|ENST00000215855|protein_coding|6/6|c.524G>A|p.Arg175Gln|604/867|524/636|175/211||,A|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_4|ENST00000215855|protein_coding|5/6|c.524G>A||||||,A|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_4|ENST00000215855|protein_coding|6/6|c.524G>A||||||,A|sequence_feature|LOW|CRYBB3|ENSG00000100053|beta_strand|ENST00000215855|protein_coding|6/6|c.524G>A||||||,A|3_prime_UTR_variant|MODIFIER|CRYBB3|ENSG00000100053|transcript|ENST00000404334|protein_coding|5/5|c.*39G>A|||||39| 22 25603095 . G C . . ANN=C|missense_variant|MODERATE|CRYBB3|ENSG00000100053|transcript|ENST00000215855|protein_coding|6/6|c.552G>C|p.Trp184Cys|632/867|552/636|184/211||,C|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_4|ENST00000215855|protein_coding|5/6|c.552G>C||||||,C|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_4|ENST00000215855|protein_coding|6/6|c.552G>C||||||,C|sequence_feature|LOW|CRYBB3|ENSG00000100053|helix|ENST00000215855|protein_coding|6/6|c.552G>C||||||,C|3_prime_UTR_variant|MODIFIER|CRYBB3|ENSG00000100053|transcript|ENST00000404334|protein_coding|5/5|c.*67G>C|||||67| 22 25603110 . G A . . ANN=A|synonymous_variant|LOW|CRYBB3|ENSG00000100053|transcript|ENST00000215855|protein_coding|6/6|c.567G>A|p.Pro189Pro|647/867|567/636|189/211||,A|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_4|ENST00000215855|protein_coding|5/6|c.567G>A||||||,A|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_4|ENST00000215855|protein_coding|6/6|c.567G>A||||||,A|3_prime_UTR_variant|MODIFIER|CRYBB3|ENSG00000100053|transcript|ENST00000404334|protein_coding|5/5|c.*82G>A|||||82| 22 25603127 . G A . . ANN=A|missense_variant|MODERATE|CRYBB3|ENSG00000100053|transcript|ENST00000215855|protein_coding|6/6|c.584G>A|p.Arg195His|664/867|584/636|195/211||,A|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_4|ENST00000215855|protein_coding|5/6|c.584G>A||||||,A|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_4|ENST00000215855|protein_coding|6/6|c.584G>A||||||,A|sequence_feature|LOW|CRYBB3|ENSG00000100053|beta_strand|ENST00000215855|protein_coding|6/6|c.584G>A||||||,A|3_prime_UTR_variant|MODIFIER|CRYBB3|ENSG00000100053|transcript|ENST00000404334|protein_coding|5/5|c.*99G>A|||||99| 22 25603136 . G A . . ANN=A|missense_variant|MODERATE|CRYBB3|ENSG00000100053|transcript|ENST00000215855|protein_coding|6/6|c.593G>A|p.Arg198His|673/867|593/636|198/211||,A|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_4|ENST00000215855|protein_coding|5/6|c.593G>A||||||,A|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_4|ENST00000215855|protein_coding|6/6|c.593G>A||||||,A|3_prime_UTR_variant|MODIFIER|CRYBB3|ENSG00000100053|transcript|ENST00000404334|protein_coding|5/5|c.*108G>A|||||108| 22 25617436 . T A . . ANN=A|missense_variant|MODERATE|CRYBB2|ENSG00000244752|transcript|ENST00000398215|protein_coding|2/6|c.40T>A|p.Ser14Thr|211/886|40/618|14/205||,A|sequence_feature|LOW|CRYBB2|ENSG00000244752|region_of_interest:N-terminal_arm|ENST00000398215|protein_coding|2/6|c.40T>A|||||| 22 25617474 . G T . . ANN=T|sequence_feature|LOW|CRYBB2|ENSG00000244752|domain:Beta/gamma_crystallin_'Greek_key'_1|ENST00000398215|protein_coding|2/6|c.54+24G>T||||||,T|sequence_feature|LOW|CRYBB2|ENSG00000244752|domain:Beta/gamma_crystallin_'Greek_key'_1|ENST00000398215|protein_coding|3/6|c.54+24G>T||||||,T|sequence_feature|LOW|CRYBB2|ENSG00000244752|beta_strand|ENST00000398215|protein_coding|2/6|c.54+24G>T||||||,T|sequence_feature|LOW|CRYBB2|ENSG00000244752|beta_strand|ENST00000398215|protein_coding|3/6|c.54+24G>T||||||,T|intron_variant|MODIFIER|CRYBB2|ENSG00000244752|transcript|ENST00000398215|protein_coding|2/5|c.54+24G>T|||||| 22 25620851 . G A . . ANN=A|sequence_feature|LOW|CRYBB2|ENSG00000244752|domain:Beta/gamma_crystallin_'Greek_key'_1|ENST00000398215|protein_coding|2/6|c.55-34G>A||||||,A|sequence_feature|LOW|CRYBB2|ENSG00000244752|domain:Beta/gamma_crystallin_'Greek_key'_1|ENST00000398215|protein_coding|3/6|c.55-34G>A||||||,A|sequence_feature|LOW|CRYBB2|ENSG00000244752|beta_strand|ENST00000398215|protein_coding|2/6|c.55-34G>A||||||,A|sequence_feature|LOW|CRYBB2|ENSG00000244752|beta_strand|ENST00000398215|protein_coding|3/6|c.55-34G>A||||||,A|intron_variant|MODIFIER|CRYBB2|ENSG00000244752|transcript|ENST00000398215|protein_coding|2/5|c.55-34G>A|||||| 22 25620853 . G C . . ANN=C|sequence_feature|LOW|CRYBB2|ENSG00000244752|domain:Beta/gamma_crystallin_'Greek_key'_1|ENST00000398215|protein_coding|2/6|c.55-32G>C||||||,C|sequence_feature|LOW|CRYBB2|ENSG00000244752|domain:Beta/gamma_crystallin_'Greek_key'_1|ENST00000398215|protein_coding|3/6|c.55-32G>C||||||,C|sequence_feature|LOW|CRYBB2|ENSG00000244752|beta_strand|ENST00000398215|protein_coding|2/6|c.55-32G>C||||||,C|sequence_feature|LOW|CRYBB2|ENSG00000244752|beta_strand|ENST00000398215|protein_coding|3/6|c.55-32G>C||||||,C|intron_variant|MODIFIER|CRYBB2|ENSG00000244752|transcript|ENST00000398215|protein_coding|2/5|c.55-32G>C|||||| 22 25623839 . G T . . ANN=T|missense_variant|MODERATE|CRYBB2|ENSG00000244752|transcript|ENST00000398215|protein_coding|4/6|c.193G>T|p.Ala65Ser|364/886|193/618|65/205||,T|sequence_feature|LOW|CRYBB2|ENSG00000244752|domain:Beta/gamma_crystallin_'Greek_key'_2|ENST00000398215|protein_coding|3/6|c.193G>T||||||,T|sequence_feature|LOW|CRYBB2|ENSG00000244752|domain:Beta/gamma_crystallin_'Greek_key'_2|ENST00000398215|protein_coding|4/6|c.193G>T||||||,T|sequence_feature|LOW|CRYBB2|ENSG00000244752|turn|ENST00000398215|protein_coding|4/6|c.193G>T|||||| 22 25623919 . G A . . ANN=A|synonymous_variant|LOW|CRYBB2|ENSG00000244752|transcript|ENST00000398215|protein_coding|4/6|c.273G>A|p.Thr91Thr|444/886|273/618|91/205||,A|sequence_feature|LOW|CRYBB2|ENSG00000244752|domain:Beta/gamma_crystallin_'Greek_key'_2|ENST00000398215|protein_coding|3/6|c.273G>A||||||,A|sequence_feature|LOW|CRYBB2|ENSG00000244752|domain:Beta/gamma_crystallin_'Greek_key'_2|ENST00000398215|protein_coding|4/6|c.273G>A|||||| 22 25627604 . G A . . ANN=A|synonymous_variant|LOW|CRYBB2|ENSG00000244752|transcript|ENST00000398215|protein_coding|6/6|c.483G>A|p.Gly161Gly|654/886|483/618|161/205||,A|sequence_feature|LOW|CRYBB2|ENSG00000244752|domain:Beta/gamma_crystallin_'Greek_key'_4|ENST00000398215|protein_coding|6/6|c.483G>A||||||,A|sequence_feature|LOW|CRYBB2|ENSG00000244752|domain:Beta/gamma_crystallin_'Greek_key'_4|ENST00000398215|protein_coding|5/6|c.483G>A||||||,A|sequence_feature|LOW|CRYBB2|ENSG00000244752|beta_strand|ENST00000398215|protein_coding|6/6|c.483G>A|||||| 22 25627692 . C T . . ANN=T|missense_variant|MODERATE|CRYBB2|ENSG00000244752|transcript|ENST00000398215|protein_coding|6/6|c.571C>T|p.Arg191Cys|742/886|571/618|191/205||,T|sequence_feature|LOW|CRYBB2|ENSG00000244752|domain:Beta/gamma_crystallin_'Greek_key'_4|ENST00000398215|protein_coding|6/6|c.571C>T||||||,T|sequence_feature|LOW|CRYBB2|ENSG00000244752|domain:Beta/gamma_crystallin_'Greek_key'_4|ENST00000398215|protein_coding|5/6|c.571C>T|||||| 22 25627788 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|CRYBB2|ENSG00000244752|transcript|ENST00000398215|protein_coding|6/6|c.*49G>A|||||49| 22 25747716 . A G . . ANN=G|3_prime_UTR_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|4/4|c.*50T>C|||||50|,G|3_prime_UTR_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|6/6|c.*50T>C|||||50|,G|3_prime_UTR_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|7/7|c.*46T>C|||||46|,G|upstream_gene_variant|MODIFIER|CTA-246H3.11|ENSG00000231466|transcript|ENST00000434827|processed_pseudogene||n.-1T>C|||||1427|,G|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay||n.*346T>C|||||39|,G|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron||n.*608T>C|||||3008|,G|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|4/4|n.3274T>C|||||| 22 25747749 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|4/4|c.*17C>T|||||17|,A|3_prime_UTR_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|6/6|c.*17C>T|||||17|,A|3_prime_UTR_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|7/7|c.*13C>T|||||13|,A|upstream_gene_variant|MODIFIER|CTA-246H3.11|ENSG00000231466|transcript|ENST00000434827|processed_pseudogene||n.-1C>T|||||1460|,A|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay||n.*346C>T|||||6|,A|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron||n.*608C>T|||||2975|,A|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|4/4|n.3241C>T|||||| 22 25747750 . C G . . ANN=G|3_prime_UTR_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|4/4|c.*16G>C|||||16|,G|3_prime_UTR_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|6/6|c.*16G>C|||||16|,G|3_prime_UTR_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|7/7|c.*12G>C|||||12|,G|upstream_gene_variant|MODIFIER|CTA-246H3.11|ENSG00000231466|transcript|ENST00000434827|processed_pseudogene||n.-1G>C|||||1461|,G|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay||n.*346G>C|||||5|,G|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron||n.*608G>C|||||2974|,G|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|4/4|n.3240G>C|||||| 22 25747779 . G A . . ANN=A|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|4/4|c.746C>T|p.Ala249Val|843/1193|746/759|249/252||,A|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|6/6|c.746C>T|p.Ala249Val|1270/1661|746/759|249/252||,A|missense_variant&splice_region_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|7/7|c.658C>T|p.Pro220Ser|1359/1714|658/675|220/224||,A|3_prime_UTR_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|4/4|n.*444C>T|||||5579|,A|upstream_gene_variant|MODIFIER|CTA-246H3.11|ENSG00000231466|transcript|ENST00000434827|processed_pseudogene||n.-1C>T|||||1490|,A|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron||n.*608C>T|||||2945|,A|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|4/4|n.3211C>T||||||,A|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|4/4|n.*444C>T|||||| 22 25747801 . C T . . ANN=T|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|4/4|c.724G>A|p.Gly242Ser|821/1193|724/759|242/252||,T|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|6/6|c.724G>A|p.Gly242Ser|1248/1661|724/759|242/252||,T|3_prime_UTR_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|4/4|n.*422G>A|||||5557|,T|upstream_gene_variant|MODIFIER|CTA-246H3.11|ENSG00000231466|transcript|ENST00000434827|processed_pseudogene||n.-1G>A|||||1512|,T|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron||n.*608G>A|||||2923|,T|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|6/6|c.656-20G>A||||||,T|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|4/4|n.3189G>A||||||,T|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|4/4|n.*422G>A|||||| 22 25747810 . T A . . ANN=A|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|4/4|c.715A>T|p.Thr239Ser|812/1193|715/759|239/252||,A|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|6/6|c.715A>T|p.Thr239Ser|1239/1661|715/759|239/252||,A|3_prime_UTR_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|4/4|n.*413A>T|||||5548|,A|upstream_gene_variant|MODIFIER|CTA-246H3.11|ENSG00000231466|transcript|ENST00000434827|processed_pseudogene||n.-1A>T|||||1521|,A|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron||n.*608A>T|||||2914|,A|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|6/6|c.656-29A>T||||||,A|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|4/4|n.3180A>T||||||,A|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|4/4|n.*413A>T|||||| 22 25747853 . C T . . ANN=T|synonymous_variant|LOW|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|4/4|c.672G>A|p.Ala224Ala|769/1193|672/759|224/252||,T|synonymous_variant|LOW|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|6/6|c.672G>A|p.Ala224Ala|1196/1661|672/759|224/252||,T|3_prime_UTR_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|4/4|n.*370G>A|||||5505|,T|upstream_gene_variant|MODIFIER|CTA-246H3.11|ENSG00000231466|transcript|ENST00000434827|processed_pseudogene||n.-1G>A|||||1564|,T|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron||n.*608G>A|||||2871|,T|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|6/6|c.656-72G>A||||||,T|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|4/4|n.3137G>A||||||,T|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|4/4|n.*370G>A|||||| 22 25750534 . C T . . ANN=T|upstream_gene_variant|MODIFIER|CTA-246H3.11|ENSG00000231466|transcript|ENST00000434827|processed_pseudogene||n.-1G>A|||||4245|,T|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron||n.*608G>A|||||190|,T|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|3/3|c.655+29G>A||||||,T|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|3/3|n.3120+29G>A||||||,T|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|5/5|c.655+29G>A||||||,T|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|6/6|c.655+29G>A||||||,T|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|3/3|n.*353+29G>A|||||| 22 25750552 . C A . . ANN=A|upstream_gene_variant|MODIFIER|CTA-246H3.11|ENSG00000231466|transcript|ENST00000434827|processed_pseudogene||n.-1G>T|||||4263|,A|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron||n.*608G>T|||||172|,A|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|3/3|c.655+11G>T||||||,A|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|3/3|n.3120+11G>T||||||,A|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|5/5|c.655+11G>T||||||,A|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|6/6|c.655+11G>T||||||,A|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|3/3|n.*353+11G>T|||||| 22 25750578 . C G . . ANN=G|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|3/4|c.640G>C|p.Val214Leu|737/1193|640/759|214/252||,G|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|5/6|c.640G>C|p.Val214Leu|1164/1661|640/759|214/252||,G|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|6/7|c.640G>C|p.Val214Leu|1341/1714|640/675|214/224||,G|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_5|ENST00000402785|protein_coding|3/4|c.640G>C||||||,G|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_5|ENST00000444995|protein_coding|6/7|c.640G>C||||||,G|3_prime_UTR_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|3/4|n.*338G>C|||||2780|,G|upstream_gene_variant|MODIFIER|CTA-246H3.11|ENSG00000231466|transcript|ENST00000434827|processed_pseudogene||n.-1G>C|||||4289|,G|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron||n.*608G>C|||||146|,G|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|3/4|n.3105G>C||||||,G|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|3/4|n.*338G>C|||||| 22 25750606 . G A . . ANN=A|synonymous_variant|LOW|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|3/4|c.612C>T|p.Pro204Pro|709/1193|612/759|204/252||,A|synonymous_variant|LOW|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|5/6|c.612C>T|p.Pro204Pro|1136/1661|612/759|204/252||,A|synonymous_variant|LOW|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|6/7|c.612C>T|p.Pro204Pro|1313/1714|612/675|204/224||,A|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_5|ENST00000402785|protein_coding|3/4|c.612C>T||||||,A|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_5|ENST00000444995|protein_coding|6/7|c.612C>T||||||,A|3_prime_UTR_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|3/4|n.*310C>T|||||2752|,A|upstream_gene_variant|MODIFIER|CTA-246H3.11|ENSG00000231466|transcript|ENST00000434827|processed_pseudogene||n.-1C>T|||||4317|,A|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron||n.*608C>T|||||118|,A|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|3/4|n.3077C>T||||||,A|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|3/4|n.*310C>T|||||| 22 25750631 . C T . . ANN=T|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|3/4|c.587G>A|p.Arg196Gln|684/1193|587/759|196/252||,T|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|5/6|c.587G>A|p.Arg196Gln|1111/1661|587/759|196/252||,T|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|6/7|c.587G>A|p.Arg196Gln|1288/1714|587/675|196/224||,T|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_5|ENST00000402785|protein_coding|3/4|c.587G>A||||||,T|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_5|ENST00000444995|protein_coding|6/7|c.587G>A||||||,T|3_prime_UTR_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|3/4|n.*285G>A|||||2727|,T|upstream_gene_variant|MODIFIER|CTA-246H3.11|ENSG00000231466|transcript|ENST00000434827|processed_pseudogene||n.-1G>A|||||4342|,T|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron||n.*608G>A|||||93|,T|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|3/4|n.3052G>A||||||,T|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|3/4|n.*285G>A|||||| 22 25750656 . G A . . ANN=A|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|3/4|c.562C>T|p.Arg188Trp|659/1193|562/759|188/252||,A|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|5/6|c.562C>T|p.Arg188Trp|1086/1661|562/759|188/252||,A|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|6/7|c.562C>T|p.Arg188Trp|1263/1714|562/675|188/224||,A|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_5|ENST00000402785|protein_coding|3/4|c.562C>T||||||,A|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_5|ENST00000444995|protein_coding|6/7|c.562C>T||||||,A|3_prime_UTR_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|3/4|n.*260C>T|||||2702|,A|upstream_gene_variant|MODIFIER|CTA-246H3.11|ENSG00000231466|transcript|ENST00000434827|processed_pseudogene||n.-1C>T|||||4367|,A|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron||n.*608C>T|||||68|,A|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|3/4|n.3027C>T||||||,A|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|3/4|n.*260C>T|||||| 22 25750663 . G A . . ANN=A|synonymous_variant|LOW|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|3/4|c.555C>T|p.Ser185Ser|652/1193|555/759|185/252||,A|synonymous_variant|LOW|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|5/6|c.555C>T|p.Ser185Ser|1079/1661|555/759|185/252||,A|synonymous_variant|LOW|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|6/7|c.555C>T|p.Ser185Ser|1256/1714|555/675|185/224||,A|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_5|ENST00000402785|protein_coding|3/4|c.555C>T||||||,A|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_5|ENST00000444995|protein_coding|6/7|c.555C>T||||||,A|3_prime_UTR_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|3/4|n.*253C>T|||||2695|,A|upstream_gene_variant|MODIFIER|CTA-246H3.11|ENSG00000231466|transcript|ENST00000434827|processed_pseudogene||n.-1C>T|||||4374|,A|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron||n.*608C>T|||||61|,A|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|3/4|n.3020C>T||||||,A|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|3/4|n.*253C>T|||||| 22 25750783 . C G . . ANN=G|splice_region_variant&intron_variant|LOW|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|2/3|c.439-4G>C||||||,G|splice_region_variant&intron_variant|LOW|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|2/3|n.2904-4G>C||||||,G|splice_region_variant&intron_variant|LOW|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|4/5|c.439-4G>C||||||,G|splice_region_variant&intron_variant|LOW|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|5/6|c.439-4G>C||||||,G|splice_region_variant&intron_variant|LOW|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|2/3|n.*137-4G>C||||||,G|splice_region_variant&intron_variant|LOW|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron|1/1|n.553-4G>C||||||,G|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_4|ENST00000402785|protein_coding|3/4|c.439-4G>C||||||,G|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_4|ENST00000402785|protein_coding|2/4|c.439-4G>C||||||,G|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_4|ENST00000444995|protein_coding|6/7|c.439-4G>C||||||,G|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_4|ENST00000444995|protein_coding|5/7|c.439-4G>C||||||,G|upstream_gene_variant|MODIFIER|CTA-246H3.11|ENSG00000231466|transcript|ENST00000434827|processed_pseudogene||n.-1G>C|||||4494| 22 25750809 . T TGGGCCA . . ANN=GGGCCA|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_4|ENST00000402785|protein_coding|3/4|c.439-36_439-31dupTGGCCC||||||,GGGCCA|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_4|ENST00000402785|protein_coding|2/4|c.439-36_439-31dupTGGCCC||||||,GGGCCA|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_4|ENST00000444995|protein_coding|6/7|c.439-36_439-31dupTGGCCC||||||,GGGCCA|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_4|ENST00000444995|protein_coding|5/7|c.439-36_439-31dupTGGCCC||||||,GGGCCA|upstream_gene_variant|MODIFIER|CTA-246H3.11|ENSG00000231466|transcript|ENST00000434827|processed_pseudogene||n.-1_-1dupTGGCCC|||||4521|,GGGCCA|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|2/3|c.439-36_439-31dupTGGCCC||||||,GGGCCA|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|2/3|n.2904-36_2904-31dupTGGCCC||||||,GGGCCA|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|4/5|c.439-36_439-31dupTGGCCC||||||,GGGCCA|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|5/6|c.439-36_439-31dupTGGCCC||||||,GGGCCA|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|2/3|n.*137-36_*137-31dupTGGCCC||||||,GGGCCA|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron|1/1|n.553-36_553-31dupTGGCCC|||||| 22 25750814 . C CAGGGCA . . ANN=AGGGCA|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_4|ENST00000402785|protein_coding|3/4|c.439-36_439-35insTGCCCT||||||,AGGGCA|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_4|ENST00000402785|protein_coding|2/4|c.439-36_439-35insTGCCCT||||||,AGGGCA|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_4|ENST00000444995|protein_coding|6/7|c.439-36_439-35insTGCCCT||||||,AGGGCA|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_4|ENST00000444995|protein_coding|5/7|c.439-36_439-35insTGCCCT||||||,AGGGCA|upstream_gene_variant|MODIFIER|CTA-246H3.11|ENSG00000231466|transcript|ENST00000434827|processed_pseudogene||n.-1_-1insTGCCCT|||||4526|,AGGGCA|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|2/3|c.439-36_439-35insTGCCCT||||||,AGGGCA|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|2/3|n.2904-36_2904-35insTGCCCT||||||,AGGGCA|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|4/5|c.439-36_439-35insTGCCCT||||||,AGGGCA|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|5/6|c.439-36_439-35insTGCCCT||||||,AGGGCA|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|2/3|n.*137-36_*137-35insTGCCCT||||||,AGGGCA|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron|1/1|n.553-36_553-35insTGCCCT|||||| 22 25750815 . A AGGGCAG . . ANN=GGGCAG|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_4|ENST00000402785|protein_coding|3/4|c.439-37_439-36insCTGCCC||||||,GGGCAG|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_4|ENST00000402785|protein_coding|2/4|c.439-37_439-36insCTGCCC||||||,GGGCAG|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_4|ENST00000444995|protein_coding|6/7|c.439-37_439-36insCTGCCC||||||,GGGCAG|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_4|ENST00000444995|protein_coding|5/7|c.439-37_439-36insCTGCCC||||||,GGGCAG|upstream_gene_variant|MODIFIER|CTA-246H3.11|ENSG00000231466|transcript|ENST00000434827|processed_pseudogene||n.-1_-1insCTGCCC|||||4527|,GGGCAG|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|2/3|c.439-37_439-36insCTGCCC||||||,GGGCAG|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|2/3|n.2904-37_2904-36insCTGCCC||||||,GGGCAG|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|4/5|c.439-37_439-36insCTGCCC||||||,GGGCAG|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|5/6|c.439-37_439-36insCTGCCC||||||,GGGCAG|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|2/3|n.*137-37_*137-36insCTGCCC||||||,GGGCAG|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron|1/1|n.553-37_553-36insCTGCCC|||||| 22 25750818 . GCCATGC G,GCAAGGCCCATGC . . ANN=|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_4|ENST00000402785|protein_coding|3/4|c.439-45_439-40delGCATGG||||||,|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_4|ENST00000402785|protein_coding|2/4|c.439-45_439-40delGCATGG||||||,AAGGCC|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_4|ENST00000402785|protein_coding|3/4|c.439-41_439-40insGGCCTT||||||,AAGGCC|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_4|ENST00000402785|protein_coding|2/4|c.439-41_439-40insGGCCTT||||||,|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_4|ENST00000444995|protein_coding|6/7|c.439-45_439-40delGCATGG||||||,|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_4|ENST00000444995|protein_coding|5/7|c.439-45_439-40delGCATGG||||||,AAGGCC|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_4|ENST00000444995|protein_coding|6/7|c.439-41_439-40insGGCCTT||||||,AAGGCC|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_4|ENST00000444995|protein_coding|5/7|c.439-41_439-40insGGCCTT||||||,|upstream_gene_variant|MODIFIER|CTA-246H3.11|ENSG00000231466|transcript|ENST00000434827|processed_pseudogene||n.-1_-1delGCATGG|||||4530|,AAGGCC|upstream_gene_variant|MODIFIER|CTA-246H3.11|ENSG00000231466|transcript|ENST00000434827|processed_pseudogene||n.-1_-1insGGCCTT|||||4531|,|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|2/3|c.439-45_439-40delGCATGG||||||,AAGGCC|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|2/3|c.439-41_439-40insGGCCTT||||||,|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|2/3|n.2904-45_2904-40delGCATGG||||||,AAGGCC|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|2/3|n.2904-41_2904-40insGGCCTT||||||,|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|4/5|c.439-45_439-40delGCATGG||||||,AAGGCC|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|4/5|c.439-41_439-40insGGCCTT||||||,|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|5/6|c.439-45_439-40delGCATGG||||||,AAGGCC|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|5/6|c.439-41_439-40insGGCCTT||||||,|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|2/3|n.*137-45_*137-40delGCATGG||||||,AAGGCC|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|2/3|n.*137-41_*137-40insGGCCTT||||||,|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron|1/1|n.553-45_553-40delGCATGG||||||,AAGGCC|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron|1/1|n.553-41_553-40insGGCCTT|||||| 22 25753175 . G A . . ANN=A|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_4|ENST00000402785|protein_coding|3/4|c.438+47C>T||||||,A|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_4|ENST00000402785|protein_coding|2/4|c.438+47C>T||||||,A|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_4|ENST00000444995|protein_coding|6/7|c.438+47C>T||||||,A|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_4|ENST00000444995|protein_coding|5/7|c.438+47C>T||||||,A|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000468442|protein_coding||c.*600C>T|||||2874|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|2/3|c.438+47C>T||||||,A|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|2/3|n.2903+47C>T||||||,A|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|4/5|c.438+47C>T||||||,A|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|5/6|c.438+47C>T||||||,A|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|2/3|n.*136+47C>T||||||,A|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron|1/1|n.552+47C>T|||||| 22 25753189 . C T . . ANN=T|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_4|ENST00000402785|protein_coding|3/4|c.438+33G>A||||||,T|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_4|ENST00000402785|protein_coding|2/4|c.438+33G>A||||||,T|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_4|ENST00000444995|protein_coding|6/7|c.438+33G>A||||||,T|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_4|ENST00000444995|protein_coding|5/7|c.438+33G>A||||||,T|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000468442|protein_coding||c.*600G>A|||||2860|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|2/3|c.438+33G>A||||||,T|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|2/3|n.2903+33G>A||||||,T|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|4/5|c.438+33G>A||||||,T|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|5/6|c.438+33G>A||||||,T|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|2/3|n.*136+33G>A||||||,T|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron|1/1|n.552+33G>A|||||| 22 25753213 . G A . . ANN=A|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_4|ENST00000402785|protein_coding|3/4|c.438+9C>T||||||,A|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_4|ENST00000402785|protein_coding|2/4|c.438+9C>T||||||,A|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_4|ENST00000444995|protein_coding|6/7|c.438+9C>T||||||,A|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_4|ENST00000444995|protein_coding|5/7|c.438+9C>T||||||,A|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000468442|protein_coding||c.*600C>T|||||2836|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|2/3|c.438+9C>T||||||,A|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|2/3|n.2903+9C>T||||||,A|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|4/5|c.438+9C>T||||||,A|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|5/6|c.438+9C>T||||||,A|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|2/3|n.*136+9C>T||||||,A|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron|1/1|n.552+9C>T|||||| 22 25753231 . G A . . ANN=A|synonymous_variant|LOW|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|2/4|c.429C>T|p.Asp143Asp|526/1193|429/759|143/252||,A|synonymous_variant|LOW|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|4/6|c.429C>T|p.Asp143Asp|953/1661|429/759|143/252||,A|synonymous_variant|LOW|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|5/7|c.429C>T|p.Asp143Asp|1130/1714|429/675|143/224||,A|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_4|ENST00000402785|protein_coding|3/4|c.429C>T||||||,A|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_4|ENST00000402785|protein_coding|2/4|c.429C>T||||||,A|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_4|ENST00000444995|protein_coding|6/7|c.429C>T||||||,A|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_4|ENST00000444995|protein_coding|5/7|c.429C>T||||||,A|3_prime_UTR_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|2/4|n.*127C>T|||||127|,A|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000468442|protein_coding||c.*600C>T|||||2818|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|2/4|n.2894C>T||||||,A|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|2/4|n.*127C>T||||||,A|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron|1/2|n.543C>T|||||| 22 25753310 . T C . . ANN=C|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|2/4|c.350A>G|p.Asn117Ser|447/1193|350/759|117/252||,C|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|4/6|c.350A>G|p.Asn117Ser|874/1661|350/759|117/252||,C|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|5/7|c.350A>G|p.Asn117Ser|1051/1714|350/675|117/224||,C|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_3|ENST00000402785|protein_coding|2/4|c.350A>G||||||,C|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_3|ENST00000402785|protein_coding|1/4|c.350A>G||||||,C|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_3|ENST00000444995|protein_coding|4/7|c.350A>G||||||,C|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_3|ENST00000444995|protein_coding|5/7|c.350A>G||||||,C|3_prime_UTR_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|2/4|n.*48A>G|||||48|,C|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000468442|protein_coding||c.*600A>G|||||2739|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|2/4|n.2815A>G||||||,C|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|2/4|n.*48A>G||||||,C|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron|1/2|n.464A>G|||||| 22 25753339 . C T . . ANN=T|synonymous_variant|LOW|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|2/4|c.321G>A|p.Leu107Leu|418/1193|321/759|107/252||,T|synonymous_variant|LOW|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|4/6|c.321G>A|p.Leu107Leu|845/1661|321/759|107/252||,T|synonymous_variant|LOW|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|5/7|c.321G>A|p.Leu107Leu|1022/1714|321/675|107/224||,T|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_3|ENST00000402785|protein_coding|2/4|c.321G>A||||||,T|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_3|ENST00000402785|protein_coding|1/4|c.321G>A||||||,T|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_3|ENST00000444995|protein_coding|4/7|c.321G>A||||||,T|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_3|ENST00000444995|protein_coding|5/7|c.321G>A||||||,T|3_prime_UTR_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|2/4|n.*19G>A|||||19|,T|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000468442|protein_coding||c.*600G>A|||||2710|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|2/4|n.2786G>A||||||,T|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|2/4|n.*19G>A||||||,T|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron|1/2|n.435G>A|||||| 22 25753349 . C T . . ANN=T|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|2/4|c.311G>A|p.Arg104His|408/1193|311/759|104/252||,T|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|4/6|c.311G>A|p.Arg104His|835/1661|311/759|104/252||,T|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|5/7|c.311G>A|p.Arg104His|1012/1714|311/675|104/224||,T|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_3|ENST00000402785|protein_coding|2/4|c.311G>A||||||,T|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_3|ENST00000402785|protein_coding|1/4|c.311G>A||||||,T|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_3|ENST00000444995|protein_coding|4/7|c.311G>A||||||,T|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_3|ENST00000444995|protein_coding|5/7|c.311G>A||||||,T|3_prime_UTR_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|2/4|n.*9G>A|||||9|,T|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000468442|protein_coding||c.*600G>A|||||2700|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|2/4|n.2776G>A||||||,T|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|2/4|n.*9G>A||||||,T|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron|1/2|n.425G>A|||||| 22 25753387 . C T . . ANN=T|synonymous_variant|LOW|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|2/4|c.273G>A|p.Thr91Thr|370/1193|273/759|91/252||,T|synonymous_variant|LOW|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|4/6|c.273G>A|p.Thr91Thr|797/1661|273/759|91/252||,T|synonymous_variant|LOW|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|5/7|c.273G>A|p.Thr91Thr|974/1714|273/675|91/224||,T|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_3|ENST00000402785|protein_coding|2/4|c.273G>A||||||,T|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_3|ENST00000402785|protein_coding|1/4|c.273G>A||||||,T|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_3|ENST00000444995|protein_coding|4/7|c.273G>A||||||,T|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_3|ENST00000444995|protein_coding|5/7|c.273G>A||||||,T|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000468442|protein_coding||c.*600G>A|||||2662|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|2/4|n.2738G>A||||||,T|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|2/4|n.184G>A||||||,T|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron|1/2|n.387G>A|||||| 22 25753397 . GAGA G . . ANN=|splice_region_variant&intron_variant|LOW|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|1/3|c.267-7_267-5delTCT||||||,|splice_region_variant&intron_variant|LOW|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|1/3|n.2732-7_2732-5delTCT||||||,|splice_region_variant&intron_variant|LOW|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|3/5|c.267-7_267-5delTCT||||||,|splice_region_variant&intron_variant|LOW|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|4/6|c.267-7_267-5delTCT||||||,|splice_region_variant&intron_variant|LOW|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|1/3|n.178-7_178-5delTCT||||||,|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_3|ENST00000402785|protein_coding|2/4|c.267-7_267-5delTCT||||||,|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_3|ENST00000402785|protein_coding|1/4|c.267-7_267-5delTCT||||||,|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_3|ENST00000444995|protein_coding|4/7|c.267-7_267-5delTCT||||||,|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_3|ENST00000444995|protein_coding|5/7|c.267-7_267-5delTCT||||||,|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000468442|protein_coding||c.*600_*600delTCT|||||2651|WARNING_TRANSCRIPT_INCOMPLETE,|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron|1/2|n.374_376delTCT|||||| 22 25755760 . GCCTGGC G . . ANN=|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_3|ENST00000402785|protein_coding|2/4|c.266+28_266+33delGCCAGG||||||,|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_3|ENST00000402785|protein_coding|1/4|c.266+28_266+33delGCCAGG||||||,|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_3|ENST00000444995|protein_coding|4/7|c.266+28_266+33delGCCAGG||||||,|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_3|ENST00000444995|protein_coding|5/7|c.266+28_266+33delGCCAGG||||||,|upstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron||n.-1_-1delGCCAGG|||||1988|,|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000468442|protein_coding||c.*600_*600delGCCAGG|||||288|WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|1/3|c.266+28_266+33delGCCAGG||||||,|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|1/3|n.2731+28_2731+33delGCCAGG||||||,|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|3/5|c.266+28_266+33delGCCAGG||||||,|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|4/6|c.266+28_266+33delGCCAGG||||||,|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|1/3|n.177+117_177+122delGCCAGG|||||| 22 25755765 . G A . . ANN=A|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_3|ENST00000402785|protein_coding|2/4|c.266+29C>T||||||,A|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_3|ENST00000402785|protein_coding|1/4|c.266+29C>T||||||,A|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_3|ENST00000444995|protein_coding|4/7|c.266+29C>T||||||,A|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_3|ENST00000444995|protein_coding|5/7|c.266+29C>T||||||,A|upstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron||n.-1C>T|||||1992|,A|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000468442|protein_coding||c.*600C>T|||||284|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|1/3|c.266+29C>T||||||,A|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|1/3|n.2731+29C>T||||||,A|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|3/5|c.266+29C>T||||||,A|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|4/6|c.266+29C>T||||||,A|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|1/3|n.177+118C>T|||||| 22 25755787 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|1/3|c.266+7C>T||||||,A|splice_region_variant&intron_variant|LOW|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|1/3|n.2731+7C>T||||||,A|splice_region_variant&intron_variant|LOW|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|3/5|c.266+7C>T||||||,A|splice_region_variant&intron_variant|LOW|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|4/6|c.266+7C>T||||||,A|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_3|ENST00000402785|protein_coding|2/4|c.266+7C>T||||||,A|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_3|ENST00000402785|protein_coding|1/4|c.266+7C>T||||||,A|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_3|ENST00000444995|protein_coding|4/7|c.266+7C>T||||||,A|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_3|ENST00000444995|protein_coding|5/7|c.266+7C>T||||||,A|upstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron||n.-1C>T|||||2014|,A|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000468442|protein_coding||c.*600C>T|||||262|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|1/3|n.177+96C>T|||||| 22 25755878 . G A . . ANN=A|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|1/4|c.182C>T|p.Thr61Met|279/1193|182/759|61/252||,A|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|3/6|c.182C>T|p.Thr61Met|706/1661|182/759|61/252||,A|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|4/7|c.182C>T|p.Thr61Met|883/1714|182/675|61/224||,A|splice_region_variant&intron_variant|LOW|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|1/3|n.177+5C>T||||||,A|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_2|ENST00000402785|protein_coding|1/4|c.182C>T||||||,A|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_2|ENST00000444995|protein_coding|4/7|c.182C>T||||||,A|upstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron||n.-1C>T|||||2105|,A|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000468442|protein_coding||c.*600C>T|||||171|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|1/4|n.2647C>T|||||| 22 25755880 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|1/3|n.177+3G>A||||||,T|synonymous_variant|LOW|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|1/4|c.180G>A|p.Val60Val|277/1193|180/759|60/252||,T|synonymous_variant|LOW|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|3/6|c.180G>A|p.Val60Val|704/1661|180/759|60/252||,T|synonymous_variant|LOW|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|4/7|c.180G>A|p.Val60Val|881/1714|180/675|60/224||,T|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_2|ENST00000402785|protein_coding|1/4|c.180G>A||||||,T|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_2|ENST00000444995|protein_coding|4/7|c.180G>A||||||,T|upstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron||n.-1G>A|||||2107|,T|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000468442|protein_coding||c.*600G>A|||||169|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|1/4|n.2645G>A|||||| 22 25755885 . C T . . ANN=T|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|1/4|c.175G>A|p.Glu59Lys|272/1193|175/759|59/252||,T|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|3/6|c.175G>A|p.Glu59Lys|699/1661|175/759|59/252||,T|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|4/7|c.175G>A|p.Glu59Lys|876/1714|175/675|59/224||,T|splice_region_variant&non_coding_exon_variant|LOW|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|1/4|n.175G>A||||||,T|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_2|ENST00000402785|protein_coding|1/4|c.175G>A||||||,T|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_2|ENST00000444995|protein_coding|4/7|c.175G>A||||||,T|upstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron||n.-1G>A|||||2112|,T|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000468442|protein_coding||c.*600G>A|||||164|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|1/4|n.2640G>A|||||| 22 25755895 . A G . . ANN=G|synonymous_variant|LOW|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|1/4|c.165T>C|p.Thr55Thr|262/1193|165/759|55/252||,G|synonymous_variant|LOW|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|3/6|c.165T>C|p.Thr55Thr|689/1661|165/759|55/252||,G|synonymous_variant|LOW|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|4/7|c.165T>C|p.Thr55Thr|866/1714|165/675|55/224||,G|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_2|ENST00000402785|protein_coding|1/4|c.165T>C||||||,G|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_2|ENST00000444995|protein_coding|4/7|c.165T>C||||||,G|upstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron||n.-1T>C|||||2122|,G|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000468442|protein_coding||c.*600T>C|||||154|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|1/4|n.2630T>C||||||,G|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|1/4|n.165T>C|||||| 22 25755908 . G A . . ANN=A|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|1/4|c.152C>T|p.Thr51Ile|249/1193|152/759|51/252||,A|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|3/6|c.152C>T|p.Thr51Ile|676/1661|152/759|51/252||,A|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|4/7|c.152C>T|p.Thr51Ile|853/1714|152/675|51/224||,A|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_2|ENST00000402785|protein_coding|1/4|c.152C>T||||||,A|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_2|ENST00000444995|protein_coding|4/7|c.152C>T||||||,A|upstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron||n.-1C>T|||||2135|,A|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000468442|protein_coding||c.*600C>T|||||141|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|1/4|n.2617C>T||||||,A|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|1/4|n.152C>T|||||| 22 25755914 . T C . . ANN=C|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|1/4|c.146A>G|p.Tyr49Cys|243/1193|146/759|49/252||,C|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|3/6|c.146A>G|p.Tyr49Cys|670/1661|146/759|49/252||,C|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|4/7|c.146A>G|p.Tyr49Cys|847/1714|146/675|49/224||,C|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_2|ENST00000402785|protein_coding|1/4|c.146A>G||||||,C|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_2|ENST00000444995|protein_coding|4/7|c.146A>G||||||,C|upstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron||n.-1A>G|||||2141|,C|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000468442|protein_coding||c.*600A>G|||||135|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|1/4|n.2611A>G||||||,C|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|1/4|n.146A>G|||||| 22 25755924 . G A . . ANN=A|stop_gained|HIGH|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|1/4|c.136C>T|p.Arg46*|233/1193|136/759|46/252||,A|stop_gained|HIGH|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|3/6|c.136C>T|p.Arg46*|660/1661|136/759|46/252||,A|stop_gained|HIGH|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|4/7|c.136C>T|p.Arg46*|837/1714|136/675|46/224||,A|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_2|ENST00000402785|protein_coding|1/4|c.136C>T||||||,A|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_2|ENST00000444995|protein_coding|4/7|c.136C>T||||||,A|upstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron||n.-1C>T|||||2151|,A|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000468442|protein_coding||c.*600C>T|||||125|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|1/4|n.2601C>T||||||,A|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|1/4|n.136C>T||||||;LOF=(LRP5L|ENSG00000100068|7|0.43);NMD=(LRP5L|ENSG00000100068|7|0.43) 22 25755925 . G C . . ANN=C|synonymous_variant|LOW|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|1/4|c.135C>G|p.Ala45Ala|232/1193|135/759|45/252||,C|synonymous_variant|LOW|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|3/6|c.135C>G|p.Ala45Ala|659/1661|135/759|45/252||,C|synonymous_variant|LOW|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|4/7|c.135C>G|p.Ala45Ala|836/1714|135/675|45/224||,C|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_1|ENST00000402785|protein_coding|1/4|c.135C>G||||||,C|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_1|ENST00000444995|protein_coding|4/7|c.135C>G||||||,C|upstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron||n.-1C>G|||||2152|,C|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000468442|protein_coding||c.*600C>G|||||124|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|1/4|n.2600C>G||||||,C|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|1/4|n.135C>G|||||| 22 25755942 . C A,G,T . . ANN=A|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|1/4|c.118G>T|p.Ala40Ser|215/1193|118/759|40/252||,G|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|1/4|c.118G>C|p.Ala40Pro|215/1193|118/759|40/252||,T|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|1/4|c.118G>A|p.Ala40Thr|215/1193|118/759|40/252||,A|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|3/6|c.118G>T|p.Ala40Ser|642/1661|118/759|40/252||,G|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|3/6|c.118G>C|p.Ala40Pro|642/1661|118/759|40/252||,T|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|3/6|c.118G>A|p.Ala40Thr|642/1661|118/759|40/252||,A|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|4/7|c.118G>T|p.Ala40Ser|819/1714|118/675|40/224||,G|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|4/7|c.118G>C|p.Ala40Pro|819/1714|118/675|40/224||,T|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|4/7|c.118G>A|p.Ala40Thr|819/1714|118/675|40/224||,A|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_1|ENST00000402785|protein_coding|1/4|c.118G>T||||||,G|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_1|ENST00000402785|protein_coding|1/4|c.118G>C||||||,T|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_1|ENST00000402785|protein_coding|1/4|c.118G>A||||||,A|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_1|ENST00000444995|protein_coding|4/7|c.118G>T||||||,G|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_1|ENST00000444995|protein_coding|4/7|c.118G>C||||||,T|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_1|ENST00000444995|protein_coding|4/7|c.118G>A||||||,A|upstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron||n.-1G>T|||||2169|,G|upstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron||n.-1G>C|||||2169|,T|upstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron||n.-1G>A|||||2169|,A|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000468442|protein_coding||c.*600G>T|||||107|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000468442|protein_coding||c.*600G>C|||||107|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000468442|protein_coding||c.*600G>A|||||107|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|1/4|n.2583G>T||||||,G|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|1/4|n.2583G>C||||||,T|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|1/4|n.2583G>A||||||,A|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|1/4|n.118G>T||||||,G|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|1/4|n.118G>C||||||,T|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|1/4|n.118G>A|||||| 22 25755980 . G A . . ANN=A|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|1/4|c.80C>T|p.Thr27Met|177/1193|80/759|27/252||,A|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|3/6|c.80C>T|p.Thr27Met|604/1661|80/759|27/252||,A|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|4/7|c.80C>T|p.Thr27Met|781/1714|80/675|27/224||,A|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_1|ENST00000402785|protein_coding|1/4|c.80C>T||||||,A|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_1|ENST00000444995|protein_coding|4/7|c.80C>T||||||,A|upstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron||n.-1C>T|||||2207|,A|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000468442|protein_coding||c.*600C>T|||||69|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|1/4|n.2545C>T||||||,A|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|1/4|n.80C>T|||||| 22 25755984 . G A . . ANN=A|stop_gained|HIGH|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|1/4|c.76C>T|p.Gln26*|173/1193|76/759|26/252||,A|stop_gained|HIGH|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|3/6|c.76C>T|p.Gln26*|600/1661|76/759|26/252||,A|stop_gained|HIGH|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|4/7|c.76C>T|p.Gln26*|777/1714|76/675|26/224||,A|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_1|ENST00000402785|protein_coding|1/4|c.76C>T||||||,A|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_1|ENST00000444995|protein_coding|4/7|c.76C>T||||||,A|upstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron||n.-1C>T|||||2211|,A|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000468442|protein_coding||c.*600C>T|||||65|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|1/4|n.2541C>T||||||,A|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|1/4|n.76C>T||||||;LOF=(LRP5L|ENSG00000100068|7|0.43);NMD=(LRP5L|ENSG00000100068|7|0.43) 22 25755987 . C T . . ANN=T|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|1/4|c.73G>A|p.Ala25Thr|170/1193|73/759|25/252||,T|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|3/6|c.73G>A|p.Ala25Thr|597/1661|73/759|25/252||,T|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|4/7|c.73G>A|p.Ala25Thr|774/1714|73/675|25/224||,T|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_1|ENST00000402785|protein_coding|1/4|c.73G>A||||||,T|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_1|ENST00000444995|protein_coding|4/7|c.73G>A||||||,T|upstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron||n.-1G>A|||||2214|,T|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000468442|protein_coding||c.*600G>A|||||62|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|1/4|n.2538G>A||||||,T|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|1/4|n.73G>A|||||| 22 25756024 . C T . . ANN=T|synonymous_variant|LOW|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|1/4|c.36G>A|p.Val12Val|133/1193|36/759|12/252||,T|synonymous_variant|LOW|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|3/6|c.36G>A|p.Val12Val|560/1661|36/759|12/252||,T|synonymous_variant|LOW|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|4/7|c.36G>A|p.Val12Val|737/1714|36/675|12/224||,T|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_1|ENST00000402785|protein_coding|1/4|c.36G>A||||||,T|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_1|ENST00000444995|protein_coding|4/7|c.36G>A||||||,T|upstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron||n.-1G>A|||||2251|,T|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000468442|protein_coding||c.*600G>A|||||25|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|1/4|n.2501G>A||||||,T|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|1/4|n.36G>A|||||| 22 25961139 . G A . . ANN=A|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|1/21|c.113+19G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|4/21|c.113+19G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|3/21|c.113+19G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|2/21|c.113+19G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|8/21|c.113+19G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|5/21|c.113+19G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|7/21|c.113+19G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|6/21|c.113+19G>A||||||,A|upstream_gene_variant|MODIFIER|CTA-407F11.8|ENSG00000234884|transcript|ENST00000412773|antisense||n.-1C>T|||||710|,A|upstream_gene_variant|MODIFIER|CTA-407F11.8|ENSG00000234884|transcript|ENST00000422876|antisense||n.-1C>T|||||1022|,A|upstream_gene_variant|MODIFIER|CTA-407F11.8|ENSG00000234884|transcript|ENST00000453811|antisense||n.-1C>T|||||913|,A|intron_variant|MODIFIER|ADRBK2|ENSG00000100077|transcript|ENST00000324198|protein_coding|1/20|c.113+19G>A||||||,A|intron_variant|MODIFIER|ADRBK2|ENSG00000100077|transcript|ENST00000455558|nonsense_mediated_decay|1/8|n.47+19G>A|||||| 22 26000466 . A C . . ANN=C|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|1/21|c.190+46A>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|4/21|c.190+46A>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|3/21|c.190+46A>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|2/21|c.190+46A>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|8/21|c.190+46A>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|5/21|c.190+46A>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|7/21|c.190+46A>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|6/21|c.190+46A>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:RGS|ENST00000324198|protein_coding|4/21|c.190+46A>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:RGS|ENST00000324198|protein_coding|3/21|c.190+46A>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:RGS|ENST00000324198|protein_coding|2/21|c.190+46A>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:RGS|ENST00000324198|protein_coding|5/21|c.190+46A>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:RGS|ENST00000324198|protein_coding|7/21|c.190+46A>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:RGS|ENST00000324198|protein_coding|6/21|c.190+46A>C||||||,C|intron_variant|MODIFIER|ADRBK2|ENSG00000100077|transcript|ENST00000324198|protein_coding|2/20|c.190+46A>C||||||,C|intron_variant|MODIFIER|ADRBK2|ENSG00000100077|transcript|ENST00000455558|nonsense_mediated_decay|2/8|n.124+46A>C|||||| 22 26040629 . A G . . ANN=G|synonymous_variant|LOW|ADRBK2|ENSG00000100077|transcript|ENST00000324198|protein_coding|3/21|c.261A>G|p.Glu87Glu|453/9103|261/2067|87/688||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|1/21|c.261A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|4/21|c.261A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|3/21|c.261A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|2/21|c.261A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|8/21|c.261A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|5/21|c.261A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|7/21|c.261A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|6/21|c.261A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:RGS|ENST00000324198|protein_coding|4/21|c.261A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:RGS|ENST00000324198|protein_coding|3/21|c.261A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:RGS|ENST00000324198|protein_coding|2/21|c.261A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:RGS|ENST00000324198|protein_coding|5/21|c.261A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:RGS|ENST00000324198|protein_coding|7/21|c.261A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:RGS|ENST00000324198|protein_coding|6/21|c.261A>G||||||,G|upstream_gene_variant|MODIFIER|CTA-407F11.6|ENSG00000224003|transcript|ENST00000418510|processed_pseudogene||n.-1A>G|||||2599|,G|intron_variant|MODIFIER|ADRBK2|ENSG00000100077|transcript|ENST00000455558|nonsense_mediated_decay|2/8|n.125-16914A>G|||||| 22 26057521 . A G . . ANN=G|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|1/21|c.265-22A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|4/21|c.265-22A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|3/21|c.265-22A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|2/21|c.265-22A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|8/21|c.265-22A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|5/21|c.265-22A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|7/21|c.265-22A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|6/21|c.265-22A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:RGS|ENST00000324198|protein_coding|4/21|c.265-22A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:RGS|ENST00000324198|protein_coding|3/21|c.265-22A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:RGS|ENST00000324198|protein_coding|2/21|c.265-22A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:RGS|ENST00000324198|protein_coding|5/21|c.265-22A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:RGS|ENST00000324198|protein_coding|7/21|c.265-22A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:RGS|ENST00000324198|protein_coding|6/21|c.265-22A>G||||||,G|intron_variant|MODIFIER|ADRBK2|ENSG00000100077|transcript|ENST00000324198|protein_coding|3/20|c.265-22A>G||||||,G|intron_variant|MODIFIER|ADRBK2|ENSG00000100077|transcript|ENST00000455558|nonsense_mediated_decay|2/8|n.125-22A>G|||||| 22 26059551 . T C . . ANN=C|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|1/21|c.367-46T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|4/21|c.367-46T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|3/21|c.367-46T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|2/21|c.367-46T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|8/21|c.367-46T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|5/21|c.367-46T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|7/21|c.367-46T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|6/21|c.367-46T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:RGS|ENST00000324198|protein_coding|4/21|c.367-46T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:RGS|ENST00000324198|protein_coding|3/21|c.367-46T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:RGS|ENST00000324198|protein_coding|2/21|c.367-46T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:RGS|ENST00000324198|protein_coding|5/21|c.367-46T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:RGS|ENST00000324198|protein_coding|7/21|c.367-46T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:RGS|ENST00000324198|protein_coding|6/21|c.367-46T>C||||||,C|intron_variant|MODIFIER|ADRBK2|ENSG00000100077|transcript|ENST00000324198|protein_coding|4/20|c.367-46T>C||||||,C|intron_variant|MODIFIER|ADRBK2|ENSG00000100077|transcript|ENST00000455558|nonsense_mediated_decay|3/8|n.*89-46T>C|||||| 22 26059552 . T C . . ANN=C|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|1/21|c.367-45T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|4/21|c.367-45T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|3/21|c.367-45T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|2/21|c.367-45T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|8/21|c.367-45T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|5/21|c.367-45T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|7/21|c.367-45T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|6/21|c.367-45T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:RGS|ENST00000324198|protein_coding|4/21|c.367-45T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:RGS|ENST00000324198|protein_coding|3/21|c.367-45T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:RGS|ENST00000324198|protein_coding|2/21|c.367-45T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:RGS|ENST00000324198|protein_coding|5/21|c.367-45T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:RGS|ENST00000324198|protein_coding|7/21|c.367-45T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:RGS|ENST00000324198|protein_coding|6/21|c.367-45T>C||||||,C|intron_variant|MODIFIER|ADRBK2|ENSG00000100077|transcript|ENST00000324198|protein_coding|4/20|c.367-45T>C||||||,C|intron_variant|MODIFIER|ADRBK2|ENSG00000100077|transcript|ENST00000455558|nonsense_mediated_decay|3/8|n.*89-45T>C|||||| 22 26059700 . G T . . ANN=T|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|1/21|c.441+29G>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|4/21|c.441+29G>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|3/21|c.441+29G>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|2/21|c.441+29G>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|8/21|c.441+29G>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|5/21|c.441+29G>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|7/21|c.441+29G>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|6/21|c.441+29G>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:RGS|ENST00000324198|protein_coding|4/21|c.441+29G>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:RGS|ENST00000324198|protein_coding|3/21|c.441+29G>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:RGS|ENST00000324198|protein_coding|2/21|c.441+29G>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:RGS|ENST00000324198|protein_coding|5/21|c.441+29G>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:RGS|ENST00000324198|protein_coding|7/21|c.441+29G>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:RGS|ENST00000324198|protein_coding|6/21|c.441+29G>T||||||,T|intron_variant|MODIFIER|ADRBK2|ENSG00000100077|transcript|ENST00000324198|protein_coding|5/20|c.441+29G>T||||||,T|intron_variant|MODIFIER|ADRBK2|ENSG00000100077|transcript|ENST00000455558|nonsense_mediated_decay|4/8|n.*163+29G>T|||||| 22 26063679 . G A . . ANN=A|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|1/21|c.442-27G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|4/21|c.442-27G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|3/21|c.442-27G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|2/21|c.442-27G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|8/21|c.442-27G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|5/21|c.442-27G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|7/21|c.442-27G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|6/21|c.442-27G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:RGS|ENST00000324198|protein_coding|4/21|c.442-27G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:RGS|ENST00000324198|protein_coding|3/21|c.442-27G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:RGS|ENST00000324198|protein_coding|2/21|c.442-27G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:RGS|ENST00000324198|protein_coding|5/21|c.442-27G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:RGS|ENST00000324198|protein_coding|7/21|c.442-27G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:RGS|ENST00000324198|protein_coding|6/21|c.442-27G>A||||||,A|intron_variant|MODIFIER|ADRBK2|ENSG00000100077|transcript|ENST00000324198|protein_coding|5/20|c.442-27G>A||||||,A|intron_variant|MODIFIER|ADRBK2|ENSG00000100077|transcript|ENST00000455558|nonsense_mediated_decay|4/8|n.*164-27G>A|||||| 22 26068246 . A T . . ANN=T|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|1/21|c.504-17A>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|4/21|c.504-17A>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|3/21|c.504-17A>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|2/21|c.504-17A>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|8/21|c.504-17A>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|5/21|c.504-17A>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|7/21|c.504-17A>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|6/21|c.504-17A>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:RGS|ENST00000324198|protein_coding|4/21|c.504-17A>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:RGS|ENST00000324198|protein_coding|3/21|c.504-17A>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:RGS|ENST00000324198|protein_coding|2/21|c.504-17A>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:RGS|ENST00000324198|protein_coding|5/21|c.504-17A>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:RGS|ENST00000324198|protein_coding|7/21|c.504-17A>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:RGS|ENST00000324198|protein_coding|6/21|c.504-17A>T||||||,T|intron_variant|MODIFIER|ADRBK2|ENSG00000100077|transcript|ENST00000324198|protein_coding|6/20|c.504-17A>T||||||,T|intron_variant|MODIFIER|ADRBK2|ENSG00000100077|transcript|ENST00000455558|nonsense_mediated_decay|5/8|n.*226-17A>T|||||| 22 26068254 . C A . . ANN=A|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|1/21|c.504-9C>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|4/21|c.504-9C>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|3/21|c.504-9C>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|2/21|c.504-9C>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|8/21|c.504-9C>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|5/21|c.504-9C>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|7/21|c.504-9C>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|6/21|c.504-9C>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:RGS|ENST00000324198|protein_coding|4/21|c.504-9C>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:RGS|ENST00000324198|protein_coding|3/21|c.504-9C>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:RGS|ENST00000324198|protein_coding|2/21|c.504-9C>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:RGS|ENST00000324198|protein_coding|5/21|c.504-9C>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:RGS|ENST00000324198|protein_coding|7/21|c.504-9C>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:RGS|ENST00000324198|protein_coding|6/21|c.504-9C>A||||||,A|intron_variant|MODIFIER|ADRBK2|ENSG00000100077|transcript|ENST00000324198|protein_coding|6/20|c.504-9C>A||||||,A|intron_variant|MODIFIER|ADRBK2|ENSG00000100077|transcript|ENST00000455558|nonsense_mediated_decay|5/8|n.*226-9C>A|||||| 22 26068297 . G A . . ANN=A|missense_variant|MODERATE|ADRBK2|ENSG00000100077|transcript|ENST00000324198|protein_coding|7/21|c.538G>A|p.Val180Ile|730/9103|538/2067|180/688||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|1/21|c.538G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|4/21|c.538G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|3/21|c.538G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|2/21|c.538G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|8/21|c.538G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|5/21|c.538G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|7/21|c.538G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|6/21|c.538G>A||||||,A|3_prime_UTR_variant|MODIFIER|ADRBK2|ENSG00000100077|transcript|ENST00000455558|nonsense_mediated_decay|6/9|n.*260G>A|||||10741|,A|non_coding_exon_variant|MODIFIER|ADRBK2|ENSG00000100077|transcript|ENST00000455558|nonsense_mediated_decay|6/9|n.*260G>A|||||| 22 26070516 . T C . . ANN=C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|9/21|c.647+21T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|16/21|c.647+21T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|14/21|c.647+21T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|12/21|c.647+21T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|13/21|c.647+21T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|11/21|c.647+21T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|15/21|c.647+21T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|8/21|c.647+21T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|10/21|c.647+21T>C||||||,C|intron_variant|MODIFIER|ADRBK2|ENSG00000100077|transcript|ENST00000324198|protein_coding|8/20|c.647+21T>C||||||,C|intron_variant|MODIFIER|ADRBK2|ENSG00000100077|transcript|ENST00000455558|nonsense_mediated_decay|7/8|n.*369+21T>C|||||| 22 26074740 . A G . . ANN=G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|9/21|c.648-43A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|16/21|c.648-43A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|14/21|c.648-43A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|12/21|c.648-43A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|13/21|c.648-43A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|11/21|c.648-43A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|15/21|c.648-43A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|8/21|c.648-43A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|10/21|c.648-43A>G||||||,G|intron_variant|MODIFIER|ADRBK2|ENSG00000100077|transcript|ENST00000324198|protein_coding|8/20|c.648-43A>G||||||,G|intron_variant|MODIFIER|ADRBK2|ENSG00000100077|transcript|ENST00000455558|nonsense_mediated_decay|7/8|n.*370-43A>G|||||| 22 26074921 . T C . . ANN=C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|9/21|c.747+39T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|16/21|c.747+39T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|14/21|c.747+39T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|12/21|c.747+39T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|13/21|c.747+39T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|11/21|c.747+39T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|15/21|c.747+39T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|8/21|c.747+39T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|10/21|c.747+39T>C||||||,C|intron_variant|MODIFIER|ADRBK2|ENSG00000100077|transcript|ENST00000324198|protein_coding|9/20|c.747+39T>C||||||,C|intron_variant|MODIFIER|ADRBK2|ENSG00000100077|transcript|ENST00000455558|nonsense_mediated_decay|8/8|n.*469+39T>C|||||| 22 26081111 . T C . . ANN=C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|9/21|c.748-26T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|16/21|c.748-26T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|14/21|c.748-26T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|12/21|c.748-26T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|13/21|c.748-26T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|11/21|c.748-26T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|15/21|c.748-26T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|8/21|c.748-26T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|10/21|c.748-26T>C||||||,C|downstream_gene_variant|MODIFIER|ADRBK2|ENSG00000100077|transcript|ENST00000455558|nonsense_mediated_decay||n.*138T>C|||||576|,C|intron_variant|MODIFIER|ADRBK2|ENSG00000100077|transcript|ENST00000324198|protein_coding|9/20|c.748-26T>C|||||| 22 26083608 . C A . . ANN=A|synonymous_variant|LOW|ADRBK2|ENSG00000100077|transcript|ENST00000324198|protein_coding|11/21|c.931C>A|p.Arg311Arg|1123/9103|931/2067|311/688||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|9/21|c.931C>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|16/21|c.931C>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|14/21|c.931C>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|12/21|c.931C>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|13/21|c.931C>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|11/21|c.931C>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|15/21|c.931C>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|8/21|c.931C>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|10/21|c.931C>A||||||,A|downstream_gene_variant|MODIFIER|ADRBK2|ENSG00000100077|transcript|ENST00000455558|nonsense_mediated_decay||n.*138C>A|||||3073| 22 26083642 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|ADRBK2|ENSG00000100077|transcript|ENST00000324198|protein_coding|11/20|c.957+8C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|9/21|c.957+8C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|16/21|c.957+8C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|14/21|c.957+8C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|12/21|c.957+8C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|13/21|c.957+8C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|11/21|c.957+8C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|15/21|c.957+8C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|8/21|c.957+8C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|10/21|c.957+8C>T||||||,T|downstream_gene_variant|MODIFIER|ADRBK2|ENSG00000100077|transcript|ENST00000455558|nonsense_mediated_decay||n.*138C>T|||||3107| 22 26086152 . T G . . ANN=G|splice_region_variant&intron_variant|LOW|ADRBK2|ENSG00000100077|transcript|ENST00000324198|protein_coding|11/20|c.958-4T>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|9/21|c.958-4T>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|16/21|c.958-4T>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|14/21|c.958-4T>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|12/21|c.958-4T>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|13/21|c.958-4T>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|11/21|c.958-4T>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|15/21|c.958-4T>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|8/21|c.958-4T>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|10/21|c.958-4T>G|||||| 22 26086262 . G A . . ANN=A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|9/21|c.1052+12G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|16/21|c.1052+12G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|14/21|c.1052+12G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|12/21|c.1052+12G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|13/21|c.1052+12G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|11/21|c.1052+12G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|15/21|c.1052+12G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|8/21|c.1052+12G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|10/21|c.1052+12G>A||||||,A|intron_variant|MODIFIER|ADRBK2|ENSG00000100077|transcript|ENST00000324198|protein_coding|12/20|c.1052+12G>A|||||| 22 26091030 . A T . . ANN=T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|9/21|c.1053-44A>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|16/21|c.1053-44A>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|14/21|c.1053-44A>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|12/21|c.1053-44A>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|13/21|c.1053-44A>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|11/21|c.1053-44A>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|15/21|c.1053-44A>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|8/21|c.1053-44A>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|10/21|c.1053-44A>T||||||,T|intron_variant|MODIFIER|ADRBK2|ENSG00000100077|transcript|ENST00000324198|protein_coding|12/20|c.1053-44A>T|||||| 22 26099429 . A G . . ANN=G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|9/21|c.1161-48A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|16/21|c.1161-48A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|14/21|c.1161-48A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|12/21|c.1161-48A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|13/21|c.1161-48A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|11/21|c.1161-48A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|15/21|c.1161-48A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|8/21|c.1161-48A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|10/21|c.1161-48A>G||||||,G|intron_variant|MODIFIER|ADRBK2|ENSG00000100077|transcript|ENST00000324198|protein_coding|13/20|c.1161-48A>G|||||| 22 26099498 . T C . . ANN=C|synonymous_variant|LOW|ADRBK2|ENSG00000100077|transcript|ENST00000324198|protein_coding|14/21|c.1182T>C|p.His394His|1374/9103|1182/2067|394/688||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|9/21|c.1182T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|16/21|c.1182T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|14/21|c.1182T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|12/21|c.1182T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|13/21|c.1182T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|11/21|c.1182T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|15/21|c.1182T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|8/21|c.1182T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|10/21|c.1182T>C|||||| 22 26099537 . C T . . ANN=T|synonymous_variant|LOW|ADRBK2|ENSG00000100077|transcript|ENST00000324198|protein_coding|14/21|c.1221C>T|p.Leu407Leu|1413/9103|1221/2067|407/688||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|9/21|c.1221C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|16/21|c.1221C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|14/21|c.1221C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|12/21|c.1221C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|13/21|c.1221C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|11/21|c.1221C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|15/21|c.1221C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|8/21|c.1221C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|10/21|c.1221C>T|||||| 22 26099541 . G A . . ANN=A|missense_variant&splice_region_variant|MODERATE|ADRBK2|ENSG00000100077|transcript|ENST00000324198|protein_coding|14/21|c.1225G>A|p.Val409Met|1417/9103|1225/2067|409/688||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|9/21|c.1225G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|16/21|c.1225G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|14/21|c.1225G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|12/21|c.1225G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|13/21|c.1225G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|11/21|c.1225G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|15/21|c.1225G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|8/21|c.1225G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|10/21|c.1225G>A|||||| 22 26100037 . A G . . ANN=G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|9/21|c.1228-39A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|16/21|c.1228-39A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|14/21|c.1228-39A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|12/21|c.1228-39A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|13/21|c.1228-39A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|11/21|c.1228-39A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|15/21|c.1228-39A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|8/21|c.1228-39A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|10/21|c.1228-39A>G||||||,G|intron_variant|MODIFIER|ADRBK2|ENSG00000100077|transcript|ENST00000324198|protein_coding|14/20|c.1228-39A>G|||||| 22 26100043 . G A . . ANN=A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|9/21|c.1228-33G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|16/21|c.1228-33G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|14/21|c.1228-33G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|12/21|c.1228-33G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|13/21|c.1228-33G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|11/21|c.1228-33G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|15/21|c.1228-33G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|8/21|c.1228-33G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|10/21|c.1228-33G>A||||||,A|intron_variant|MODIFIER|ADRBK2|ENSG00000100077|transcript|ENST00000324198|protein_coding|14/20|c.1228-33G>A|||||| 22 26100063 . G A . . ANN=A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|9/21|c.1228-13G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|16/21|c.1228-13G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|14/21|c.1228-13G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|12/21|c.1228-13G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|13/21|c.1228-13G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|11/21|c.1228-13G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|15/21|c.1228-13G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|8/21|c.1228-13G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|10/21|c.1228-13G>A||||||,A|intron_variant|MODIFIER|ADRBK2|ENSG00000100077|transcript|ENST00000324198|protein_coding|14/20|c.1228-13G>A|||||| 22 26100085 . C T . . ANN=T|missense_variant|MODERATE|ADRBK2|ENSG00000100077|transcript|ENST00000324198|protein_coding|15/21|c.1237C>T|p.Leu413Phe|1429/9103|1237/2067|413/688||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|9/21|c.1237C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|16/21|c.1237C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|14/21|c.1237C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|12/21|c.1237C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|13/21|c.1237C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|11/21|c.1237C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|15/21|c.1237C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|8/21|c.1237C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|10/21|c.1237C>T|||||| 22 26100144 . C T . . ANN=T|synonymous_variant|LOW|ADRBK2|ENSG00000100077|transcript|ENST00000324198|protein_coding|15/21|c.1296C>T|p.Asp432Asp|1488/9103|1296/2067|432/688||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|9/21|c.1296C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|16/21|c.1296C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|14/21|c.1296C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|12/21|c.1296C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|13/21|c.1296C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|11/21|c.1296C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|15/21|c.1296C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|8/21|c.1296C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|10/21|c.1296C>T|||||| 22 26100168 . C T . . ANN=T|synonymous_variant|LOW|ADRBK2|ENSG00000100077|transcript|ENST00000324198|protein_coding|15/21|c.1320C>T|p.His440His|1512/9103|1320/2067|440/688||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|9/21|c.1320C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|16/21|c.1320C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|14/21|c.1320C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|12/21|c.1320C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|13/21|c.1320C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|11/21|c.1320C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|15/21|c.1320C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|8/21|c.1320C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|10/21|c.1320C>T|||||| 22 26105847 . T C . . ANN=C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|9/21|c.1329-18T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|16/21|c.1329-18T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|14/21|c.1329-18T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|12/21|c.1329-18T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|13/21|c.1329-18T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|11/21|c.1329-18T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|15/21|c.1329-18T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|8/21|c.1329-18T>C||||||,C|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|10/21|c.1329-18T>C||||||,C|intron_variant|MODIFIER|ADRBK2|ENSG00000100077|transcript|ENST00000324198|protein_coding|15/20|c.1329-18T>C|||||| 22 26105861 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|ADRBK2|ENSG00000100077|transcript|ENST00000324198|protein_coding|15/20|c.1329-4C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|9/21|c.1329-4C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|16/21|c.1329-4C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|14/21|c.1329-4C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|12/21|c.1329-4C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|13/21|c.1329-4C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|11/21|c.1329-4C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|15/21|c.1329-4C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|8/21|c.1329-4C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|10/21|c.1329-4C>T|||||| 22 26105968 . C T . . ANN=T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:AGC-kinase_C-terminal|ENST00000324198|protein_coding|16/21|c.1395+37C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:AGC-kinase_C-terminal|ENST00000324198|protein_coding|18/21|c.1395+37C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:AGC-kinase_C-terminal|ENST00000324198|protein_coding|17/21|c.1395+37C>T||||||,T|intron_variant|MODIFIER|ADRBK2|ENSG00000100077|transcript|ENST00000324198|protein_coding|16/20|c.1395+37C>T|||||| 22 26105974 . G A . . ANN=A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:AGC-kinase_C-terminal|ENST00000324198|protein_coding|16/21|c.1395+43G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:AGC-kinase_C-terminal|ENST00000324198|protein_coding|18/21|c.1395+43G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:AGC-kinase_C-terminal|ENST00000324198|protein_coding|17/21|c.1395+43G>A||||||,A|intron_variant|MODIFIER|ADRBK2|ENSG00000100077|transcript|ENST00000324198|protein_coding|16/20|c.1395+43G>A|||||| 22 26106994 . G A . . ANN=A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:AGC-kinase_C-terminal|ENST00000324198|protein_coding|16/21|c.1396-41G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:AGC-kinase_C-terminal|ENST00000324198|protein_coding|18/21|c.1396-41G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:AGC-kinase_C-terminal|ENST00000324198|protein_coding|17/21|c.1396-41G>A||||||,A|downstream_gene_variant|MODIFIER|RNA5SP494|ENSG00000222585|transcript|ENST00000410653|rRNA||n.*129C>T|||||4014|,A|intron_variant|MODIFIER|ADRBK2|ENSG00000100077|transcript|ENST00000324198|protein_coding|16/20|c.1396-41G>A|||||| 22 26110530 . C T . . ANN=T|synonymous_variant|LOW|ADRBK2|ENSG00000100077|transcript|ENST00000324198|protein_coding|18/21|c.1647C>T|p.His549His|1839/9103|1647/2067|549/688||,T|downstream_gene_variant|MODIFIER|RNA5SP494|ENSG00000222585|transcript|ENST00000410653|rRNA||n.*129G>A|||||478| 22 26114187 . C T . . ANN=T|upstream_gene_variant|MODIFIER|RNA5SP494|ENSG00000222585|transcript|ENST00000410653|rRNA||n.-1G>A|||||3051|,T|intron_variant|MODIFIER|ADRBK2|ENSG00000100077|transcript|ENST00000324198|protein_coding|18/20|c.1655-25C>T|||||| 22 26114191 . T C . . ANN=C|upstream_gene_variant|MODIFIER|RNA5SP494|ENSG00000222585|transcript|ENST00000410653|rRNA||n.-1A>G|||||3055|,C|intron_variant|MODIFIER|ADRBK2|ENSG00000100077|transcript|ENST00000324198|protein_coding|18/20|c.1655-21T>C|||||| 22 26114216 . C T . . ANN=T|synonymous_variant|LOW|ADRBK2|ENSG00000100077|transcript|ENST00000324198|protein_coding|19/21|c.1659C>T|p.Tyr553Tyr|1851/9103|1659/2067|553/688||,T|upstream_gene_variant|MODIFIER|RNA5SP494|ENSG00000222585|transcript|ENST00000410653|rRNA||n.-1G>A|||||3080| 22 26114243 . C T . . ANN=T|synonymous_variant|LOW|ADRBK2|ENSG00000100077|transcript|ENST00000324198|protein_coding|19/21|c.1686C>T|p.His562His|1878/9103|1686/2067|562/688||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:PH|ENST00000324198|protein_coding|21/21|c.1686C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:PH|ENST00000324198|protein_coding|19/21|c.1686C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:PH|ENST00000324198|protein_coding|20/21|c.1686C>T||||||,T|upstream_gene_variant|MODIFIER|RNA5SP494|ENSG00000222585|transcript|ENST00000410653|rRNA||n.-1G>A|||||3107| 22 26114389 . G A . . ANN=A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:PH|ENST00000324198|protein_coding|21/21|c.1791+41G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:PH|ENST00000324198|protein_coding|19/21|c.1791+41G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:PH|ENST00000324198|protein_coding|20/21|c.1791+41G>A||||||,A|upstream_gene_variant|MODIFIER|RNA5SP494|ENSG00000222585|transcript|ENST00000410653|rRNA||n.-1C>T|||||3253|,A|intron_variant|MODIFIER|ADRBK2|ENSG00000100077|transcript|ENST00000324198|protein_coding|19/20|c.1791+41G>A|||||| 22 26117202 . A G . . ANN=G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:PH|ENST00000324198|protein_coding|21/21|c.1792-49A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:PH|ENST00000324198|protein_coding|19/21|c.1792-49A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:PH|ENST00000324198|protein_coding|20/21|c.1792-49A>G||||||,G|intron_variant|MODIFIER|ADRBK2|ENSG00000100077|transcript|ENST00000324198|protein_coding|19/20|c.1792-49A>G|||||| 22 26117229 . A G . . ANN=G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:PH|ENST00000324198|protein_coding|21/21|c.1792-22A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:PH|ENST00000324198|protein_coding|19/21|c.1792-22A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:PH|ENST00000324198|protein_coding|20/21|c.1792-22A>G||||||,G|intron_variant|MODIFIER|ADRBK2|ENSG00000100077|transcript|ENST00000324198|protein_coding|19/20|c.1792-22A>G|||||| 22 26117343 . A G . . ANN=G|synonymous_variant|LOW|ADRBK2|ENSG00000100077|transcript|ENST00000324198|protein_coding|20/21|c.1884A>G|p.Lys628Lys|2076/9103|1884/2067|628/688||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:PH|ENST00000324198|protein_coding|21/21|c.1884A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:PH|ENST00000324198|protein_coding|19/21|c.1884A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:PH|ENST00000324198|protein_coding|20/21|c.1884A>G|||||| 22 26118231 . C T . . ANN=T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:PH|ENST00000324198|protein_coding|21/21|c.1906-25C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:PH|ENST00000324198|protein_coding|19/21|c.1906-25C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:PH|ENST00000324198|protein_coding|20/21|c.1906-25C>T||||||,T|intron_variant|MODIFIER|ADRBK2|ENSG00000100077|transcript|ENST00000324198|protein_coding|20/20|c.1906-25C>T|||||| 22 26118244 . A G . . ANN=G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:PH|ENST00000324198|protein_coding|21/21|c.1906-12A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:PH|ENST00000324198|protein_coding|19/21|c.1906-12A>G||||||,G|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:PH|ENST00000324198|protein_coding|20/21|c.1906-12A>G||||||,G|intron_variant|MODIFIER|ADRBK2|ENSG00000100077|transcript|ENST00000324198|protein_coding|20/20|c.1906-12A>G|||||| 22 26118294 . C T . . ANN=T|synonymous_variant|LOW|ADRBK2|ENSG00000100077|transcript|ENST00000324198|protein_coding|21/21|c.1944C>T|p.Asn648Asn|2136/9103|1944/2067|648/688||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:PH|ENST00000324198|protein_coding|21/21|c.1944C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:PH|ENST00000324198|protein_coding|19/21|c.1944C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:PH|ENST00000324198|protein_coding|20/21|c.1944C>T|||||| 22 26565698 . C T . . ANN=T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|1/17|c.63C>T|p.Leu21Leu|158/3248|63/3075|21/1024||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|1/17|c.63C>T|p.Leu21Leu|259/3444|63/3072|21/1023||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|1/16|c.63C>T|p.Leu21Leu|259/6532|63/3042|21/1013||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|1/15|c.63C>T|p.Leu21Leu|219/6307|63/2850|21/949||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|1/15|c.63C>T|p.Leu21Leu|75/2898|63/2847|21/948||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|signal_peptide|ENST00000248933|protein_coding|1/17|c.63C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|signal_peptide|ENST00000404234|protein_coding|1/17|c.63C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|signal_peptide|ENST00000529632|protein_coding|1/16|c.63C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|signal_peptide|ENST00000360929|protein_coding|1/15|c.63C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|signal_peptide|ENST00000343706|protein_coding|1/15|c.63C>T|||||| 22 26688357 . T C . . ANN=C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.95-15T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.95-15T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.95-15T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.95-15T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.95-15T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.95-15T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.95-15T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.95-15T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.95-15T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.95-15T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.95-15T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.95-15T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.95-15T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.95-15T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.95-15T>C||||||,C|5_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|1/16|c.-602T>C|||||602|,C|5_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|1/14|c.-602T>C|||||602|,C|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|1/16|c.95-15T>C||||||,C|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|1/16|c.95-15T>C||||||,C|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|1/15|c.95-15T>C||||||,C|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|1/14|c.95-15T>C||||||,C|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|1/14|c.95-15T>C|||||| 22 26688377 . C T . . ANN=T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|2/17|c.100C>T|p.Leu34Phe|195/3248|100/3075|34/1024||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|2/17|c.100C>T|p.Leu34Phe|296/3444|100/3072|34/1023||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|2/16|c.100C>T|p.Leu34Phe|296/6532|100/3042|34/1013||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|2/15|c.100C>T|p.Leu34Phe|256/6307|100/2850|34/949||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|2/15|c.100C>T|p.Leu34Phe|112/2898|100/2847|34/948||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.100C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.100C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.100C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.100C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.100C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.100C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.100C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.100C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.100C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.100C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.100C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.100C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.100C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.100C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.100C>T||||||,T|5_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|1/16|c.-582C>T|||||582|,T|5_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|1/14|c.-582C>T|||||582| 22 26688378 . T C . . ANN=C|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|2/17|c.101T>C|p.Leu34Pro|196/3248|101/3075|34/1024||,C|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|2/17|c.101T>C|p.Leu34Pro|297/3444|101/3072|34/1023||,C|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|2/16|c.101T>C|p.Leu34Pro|297/6532|101/3042|34/1013||,C|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|2/15|c.101T>C|p.Leu34Pro|257/6307|101/2850|34/949||,C|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|2/15|c.101T>C|p.Leu34Pro|113/2898|101/2847|34/948||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.101T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.101T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.101T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.101T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.101T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.101T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.101T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.101T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.101T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.101T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.101T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.101T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.101T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.101T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.101T>C||||||,C|5_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|1/16|c.-581T>C|||||581|,C|5_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|1/14|c.-581T>C|||||581| 22 26688388 . A C . . ANN=C|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|2/17|c.111A>C|p.Gly37Gly|206/3248|111/3075|37/1024||,C|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|2/17|c.111A>C|p.Gly37Gly|307/3444|111/3072|37/1023||,C|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|2/16|c.111A>C|p.Gly37Gly|307/6532|111/3042|37/1013||,C|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|2/15|c.111A>C|p.Gly37Gly|267/6307|111/2850|37/949||,C|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|2/15|c.111A>C|p.Gly37Gly|123/2898|111/2847|37/948||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.111A>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.111A>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.111A>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.111A>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.111A>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.111A>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.111A>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.111A>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.111A>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.111A>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.111A>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.111A>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.111A>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.111A>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.111A>C||||||,C|5_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|1/16|c.-571A>C|||||571|,C|5_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|1/14|c.-571A>C|||||571| 22 26688401 . T C . . ANN=C|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|2/17|c.124T>C|p.Leu42Leu|219/3248|124/3075|42/1024||,C|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|2/17|c.124T>C|p.Leu42Leu|320/3444|124/3072|42/1023||,C|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|2/16|c.124T>C|p.Leu42Leu|320/6532|124/3042|42/1013||,C|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|2/15|c.124T>C|p.Leu42Leu|280/6307|124/2850|42/949||,C|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|2/15|c.124T>C|p.Leu42Leu|136/2898|124/2847|42/948||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|1/16|c.-558T>C||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|1/14|c.-558T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.124T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.124T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.124T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.124T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.124T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.124T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.124T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.124T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.124T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.124T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.124T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.124T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.124T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.124T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.124T>C||||||,C|5_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|1/16|c.-558T>C|||||558|,C|5_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|1/14|c.-558T>C|||||558| 22 26688413 . C G . . ANN=G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|2/17|c.136C>G|p.Leu46Val|231/3248|136/3075|46/1024||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|2/17|c.136C>G|p.Leu46Val|332/3444|136/3072|46/1023||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|2/16|c.136C>G|p.Leu46Val|332/6532|136/3042|46/1013||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|2/15|c.136C>G|p.Leu46Val|292/6307|136/2850|46/949||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|2/15|c.136C>G|p.Leu46Val|148/2898|136/2847|46/948||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.136C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.136C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.136C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.136C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.136C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.136C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.136C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.136C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.136C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.136C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.136C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.136C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.136C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.136C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.136C>G||||||,G|5_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|1/16|c.-546C>G|||||546|,G|5_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|1/14|c.-546C>G|||||546| 22 26688580 . G T . . ANN=T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|2/17|c.303G>T|p.Pro101Pro|398/3248|303/3075|101/1024||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|2/17|c.303G>T|p.Pro101Pro|499/3444|303/3072|101/1023||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|2/16|c.303G>T|p.Pro101Pro|499/6532|303/3042|101/1013||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|2/15|c.303G>T|p.Pro101Pro|459/6307|303/2850|101/949||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|2/15|c.303G>T|p.Pro101Pro|315/2898|303/2847|101/948||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.303G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.303G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.303G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.303G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.303G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.303G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.303G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.303G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.303G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.303G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.303G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.303G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.303G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.303G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.303G>T||||||,T|5_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|1/16|c.-379G>T|||||379|,T|5_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|1/14|c.-379G>T|||||379| 22 26688621 . C G . . ANN=G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|2/17|c.344C>G|p.Pro115Arg|439/3248|344/3075|115/1024||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|2/17|c.344C>G|p.Pro115Arg|540/3444|344/3072|115/1023||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|2/16|c.344C>G|p.Pro115Arg|540/6532|344/3042|115/1013||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|2/15|c.344C>G|p.Pro115Arg|500/6307|344/2850|115/949||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|2/15|c.344C>G|p.Pro115Arg|356/2898|344/2847|115/948||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.344C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.344C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.344C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.344C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.344C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.344C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.344C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.344C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.344C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.344C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.344C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.344C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.344C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.344C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.344C>G||||||,G|5_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|1/16|c.-338C>G|||||338|,G|5_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|1/14|c.-338C>G|||||338| 22 26688727 . G A . . ANN=A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|2/17|c.450G>A|p.Ala150Ala|545/3248|450/3075|150/1024||,A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|2/17|c.450G>A|p.Ala150Ala|646/3444|450/3072|150/1023||,A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|2/16|c.450G>A|p.Ala150Ala|646/6532|450/3042|150/1013||,A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|2/15|c.450G>A|p.Ala150Ala|606/6307|450/2850|150/949||,A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|2/15|c.450G>A|p.Ala150Ala|462/2898|450/2847|150/948||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.450G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.450G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.450G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.450G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.450G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.450G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.450G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.450G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.450G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.450G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.450G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.450G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.450G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.450G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.450G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|region_of_interest:O-glycosylated_at_one_site|ENST00000248933|protein_coding|2/17|c.450G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|region_of_interest:O-glycosylated_at_one_site|ENST00000404234|protein_coding|2/17|c.450G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|region_of_interest:O-glycosylated_at_one_site|ENST00000529632|protein_coding|2/16|c.450G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|region_of_interest:O-glycosylated_at_one_site|ENST00000360929|protein_coding|2/15|c.450G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|region_of_interest:O-glycosylated_at_one_site|ENST00000343706|protein_coding|2/15|c.450G>A||||||,A|5_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|1/16|c.-232G>A|||||232|,A|5_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|1/14|c.-232G>A|||||232| 22 26688777 . C T . . ANN=T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|2/17|c.500C>T|p.Pro167Leu|595/3248|500/3075|167/1024||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|2/17|c.500C>T|p.Pro167Leu|696/3444|500/3072|167/1023||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|2/16|c.500C>T|p.Pro167Leu|696/6532|500/3042|167/1013||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|2/15|c.500C>T|p.Pro167Leu|656/6307|500/2850|167/949||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|2/15|c.500C>T|p.Pro167Leu|512/2898|500/2847|167/948||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|1/16|c.-182C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|1/14|c.-182C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.500C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.500C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.500C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.500C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.500C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.500C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.500C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.500C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.500C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.500C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.500C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.500C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.500C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.500C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.500C>T||||||,T|5_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|1/16|c.-182C>T|||||182|,T|5_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|1/14|c.-182C>T|||||182| 22 26688778 . G A . . ANN=A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|2/17|c.501G>A|p.Pro167Pro|596/3248|501/3075|167/1024||,A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|2/17|c.501G>A|p.Pro167Pro|697/3444|501/3072|167/1023||,A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|2/16|c.501G>A|p.Pro167Pro|697/6532|501/3042|167/1013||,A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|2/15|c.501G>A|p.Pro167Pro|657/6307|501/2850|167/949||,A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|2/15|c.501G>A|p.Pro167Pro|513/2898|501/2847|167/948||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.501G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.501G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.501G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.501G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.501G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.501G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.501G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.501G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.501G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.501G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.501G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.501G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.501G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.501G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.501G>A||||||,A|5_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|1/16|c.-181G>A|||||181|,A|5_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|1/14|c.-181G>A|||||181| 22 26688797 . G A . . ANN=A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|2/17|c.520G>A|p.Val174Met|615/3248|520/3075|174/1024||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|2/17|c.520G>A|p.Val174Met|716/3444|520/3072|174/1023||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|2/16|c.520G>A|p.Val174Met|716/6532|520/3042|174/1013||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|2/15|c.520G>A|p.Val174Met|676/6307|520/2850|174/949||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|2/15|c.520G>A|p.Val174Met|532/2898|520/2847|174/948||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|1/16|c.-162G>A||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|1/14|c.-162G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.520G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.520G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.520G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.520G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.520G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.520G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.520G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.520G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.520G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.520G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.520G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.520G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.520G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.520G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.520G>A||||||,A|5_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|1/16|c.-162G>A|||||162|,A|5_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|1/14|c.-162G>A|||||162| 22 26688831 . G T . . ANN=T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|2/17|c.554G>T|p.Trp185Leu|649/3248|554/3075|185/1024||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|2/17|c.554G>T|p.Trp185Leu|750/3444|554/3072|185/1023||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|2/16|c.554G>T|p.Trp185Leu|750/6532|554/3042|185/1013||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|2/15|c.554G>T|p.Trp185Leu|710/6307|554/2850|185/949||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|2/15|c.554G>T|p.Trp185Leu|566/2898|554/2847|185/948||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|1/16|c.-128G>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|1/14|c.-128G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.554G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.554G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.554G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.554G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.554G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.554G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.554G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.554G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.554G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.554G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.554G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.554G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.554G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.554G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.554G>T||||||,T|5_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|1/16|c.-128G>T|||||128|,T|5_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|1/14|c.-128G>T|||||128| 22 26688838 . C T . . ANN=T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|2/17|c.561C>T|p.Asp187Asp|656/3248|561/3075|187/1024||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|2/17|c.561C>T|p.Asp187Asp|757/3444|561/3072|187/1023||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|2/16|c.561C>T|p.Asp187Asp|757/6532|561/3042|187/1013||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|2/15|c.561C>T|p.Asp187Asp|717/6307|561/2850|187/949||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|2/15|c.561C>T|p.Asp187Asp|573/2898|561/2847|187/948||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.561C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.561C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.561C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.561C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.561C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.561C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.561C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.561C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.561C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.561C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.561C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.561C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.561C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.561C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.561C>T||||||,T|5_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|1/16|c.-121C>T|||||121|,T|5_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|1/14|c.-121C>T|||||121| 22 26688840 . G A . . ANN=A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|2/17|c.563G>A|p.Arg188Gln|658/3248|563/3075|188/1024||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|2/17|c.563G>A|p.Arg188Gln|759/3444|563/3072|188/1023||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|2/16|c.563G>A|p.Arg188Gln|759/6532|563/3042|188/1013||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|2/15|c.563G>A|p.Arg188Gln|719/6307|563/2850|188/949||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|2/15|c.563G>A|p.Arg188Gln|575/2898|563/2847|188/948||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.563G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.563G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.563G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.563G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.563G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.563G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.563G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.563G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.563G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.563G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.563G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.563G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.563G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.563G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.563G>A||||||,A|5_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|1/16|c.-119G>A|||||119|,A|5_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|1/14|c.-119G>A|||||119| 22 26688940 . C T . . ANN=T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|2/17|c.663C>T|p.Pro221Pro|758/3248|663/3075|221/1024||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|2/17|c.663C>T|p.Pro221Pro|859/3444|663/3072|221/1023||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|2/16|c.663C>T|p.Pro221Pro|859/6532|663/3042|221/1013||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|2/15|c.663C>T|p.Pro221Pro|819/6307|663/2850|221/949||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|2/15|c.663C>T|p.Pro221Pro|675/2898|663/2847|221/948||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|1/16|c.-19C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|1/14|c.-19C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.663C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.663C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.663C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.663C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.663C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.663C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.663C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.663C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.663C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.663C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.663C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.663C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.663C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.663C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.663C>T||||||,T|5_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|1/16|c.-19C>T|||||19|,T|5_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|1/14|c.-19C>T|||||19| 22 26689053 . A G . . ANN=G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|2/17|c.776A>G|p.Gln259Arg|871/3248|776/3075|259/1024||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|2/17|c.776A>G|p.Gln259Arg|972/3444|776/3072|259/1023||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|2/16|c.776A>G|p.Gln259Arg|972/6532|776/3042|259/1013||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|2/15|c.776A>G|p.Gln259Arg|932/6307|776/2850|259/949||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|2/15|c.776A>G|p.Gln259Arg|788/2898|776/2847|259/948||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|1/16|c.95A>G|p.Gln32Arg|837/3306|95/2391|32/796||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|1/14|c.95A>G|p.Gln32Arg|837/3078|95/2163|32/720||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.776A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.776A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.776A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.776A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.776A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.776A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.776A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.776A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.776A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.776A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.776A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.776A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.776A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.776A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.776A>G|||||| 22 26689105 . G A . . ANN=A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|2/17|c.828G>A|p.Gln276Gln|923/3248|828/3075|276/1024||,A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|2/17|c.828G>A|p.Gln276Gln|1024/3444|828/3072|276/1023||,A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|2/16|c.828G>A|p.Gln276Gln|1024/6532|828/3042|276/1013||,A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|2/15|c.828G>A|p.Gln276Gln|984/6307|828/2850|276/949||,A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|2/15|c.828G>A|p.Gln276Gln|840/2898|828/2847|276/948||,A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|1/16|c.147G>A|p.Gln49Gln|889/3306|147/2391|49/796||,A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|1/14|c.147G>A|p.Gln49Gln|889/3078|147/2163|49/720||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.828G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.828G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.828G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.828G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.828G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.828G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.828G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.828G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.828G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.828G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.828G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.828G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.828G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.828G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.828G>A|||||| 22 26690407 . T C . . 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G C . . ANN=C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.969+36G>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.969+36G>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.969+36G>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.969+36G>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.969+36G>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.969+36G>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.969+36G>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.969+36G>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.969+36G>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.969+36G>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.969+36G>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.969+36G>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.969+36G>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.969+36G>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.969+36G>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000248933|protein_coding|3/17|c.969+36G>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000248933|protein_coding|4/17|c.969+36G>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000248933|protein_coding|5/17|c.969+36G>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000404234|protein_coding|3/17|c.969+36G>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000404234|protein_coding|4/17|c.969+36G>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000404234|protein_coding|5/17|c.969+36G>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000529632|protein_coding|3/16|c.969+36G>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000529632|protein_coding|4/16|c.969+36G>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000529632|protein_coding|5/16|c.969+36G>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000360929|protein_coding|3/15|c.969+36G>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000360929|protein_coding|4/15|c.969+36G>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000360929|protein_coding|5/15|c.969+36G>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000343706|protein_coding|3/15|c.969+36G>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000343706|protein_coding|4/15|c.969+36G>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000343706|protein_coding|5/15|c.969+36G>C||||||,C|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|3/16|c.969+36G>C||||||,C|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|3/16|c.969+36G>C||||||,C|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|3/15|c.969+36G>C||||||,C|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|3/14|c.969+36G>C||||||,C|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|3/14|c.969+36G>C||||||,C|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|2/15|c.288+36G>C||||||,C|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|2/13|c.288+36G>C|||||| 22 26690435 . G T . . 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T C . . ANN=C|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|4/17|c.1029T>C|p.Pro343Pro|1124/3248|1029/3075|343/1024||,C|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|4/17|c.1029T>C|p.Pro343Pro|1225/3444|1029/3072|343/1023||,C|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|4/16|c.1029T>C|p.Pro343Pro|1225/6532|1029/3042|343/1013||,C|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|4/15|c.1029T>C|p.Pro343Pro|1185/6307|1029/2850|343/949||,C|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|4/15|c.1029T>C|p.Pro343Pro|1041/2898|1029/2847|343/948||,C|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|3/16|c.348T>C|p.Pro116Pro|1090/3306|348/2391|116/796||,C|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|3/14|c.348T>C|p.Pro116Pro|1090/3078|348/2163|116/720||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.1029T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.1029T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.1029T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.1029T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.1029T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.1029T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.1029T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.1029T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.1029T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.1029T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.1029T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.1029T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.1029T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.1029T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.1029T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000248933|protein_coding|3/17|c.1029T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000248933|protein_coding|4/17|c.1029T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000248933|protein_coding|5/17|c.1029T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000404234|protein_coding|3/17|c.1029T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000404234|protein_coding|4/17|c.1029T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000404234|protein_coding|5/17|c.1029T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000529632|protein_coding|3/16|c.1029T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000529632|protein_coding|4/16|c.1029T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000529632|protein_coding|5/16|c.1029T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000360929|protein_coding|3/15|c.1029T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000360929|protein_coding|4/15|c.1029T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000360929|protein_coding|5/15|c.1029T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000343706|protein_coding|3/15|c.1029T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000343706|protein_coding|4/15|c.1029T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000343706|protein_coding|5/15|c.1029T>C|||||| 22 26692922 . C T . . ANN=T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|4/17|c.1038C>T|p.Thr346Thr|1133/3248|1038/3075|346/1024||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|4/17|c.1038C>T|p.Thr346Thr|1234/3444|1038/3072|346/1023||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|4/16|c.1038C>T|p.Thr346Thr|1234/6532|1038/3042|346/1013||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|4/15|c.1038C>T|p.Thr346Thr|1194/6307|1038/2850|346/949||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|4/15|c.1038C>T|p.Thr346Thr|1050/2898|1038/2847|346/948||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|3/16|c.357C>T|p.Thr119Thr|1099/3306|357/2391|119/796||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|3/14|c.357C>T|p.Thr119Thr|1099/3078|357/2163|119/720||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.1038C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.1038C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.1038C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.1038C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.1038C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.1038C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.1038C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.1038C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.1038C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.1038C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.1038C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.1038C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.1038C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.1038C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.1038C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000248933|protein_coding|3/17|c.1038C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000248933|protein_coding|4/17|c.1038C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000248933|protein_coding|5/17|c.1038C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000404234|protein_coding|3/17|c.1038C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000404234|protein_coding|4/17|c.1038C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000404234|protein_coding|5/17|c.1038C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000529632|protein_coding|3/16|c.1038C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000529632|protein_coding|4/16|c.1038C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000529632|protein_coding|5/16|c.1038C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000360929|protein_coding|3/15|c.1038C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000360929|protein_coding|4/15|c.1038C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000360929|protein_coding|5/15|c.1038C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000343706|protein_coding|3/15|c.1038C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000343706|protein_coding|4/15|c.1038C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000343706|protein_coding|5/15|c.1038C>T|||||| 22 26692955 . G A . . ANN=A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|4/17|c.1071G>A|p.Gly357Gly|1166/3248|1071/3075|357/1024||,A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|4/17|c.1071G>A|p.Gly357Gly|1267/3444|1071/3072|357/1023||,A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|4/16|c.1071G>A|p.Gly357Gly|1267/6532|1071/3042|357/1013||,A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|4/15|c.1071G>A|p.Gly357Gly|1227/6307|1071/2850|357/949||,A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|4/15|c.1071G>A|p.Gly357Gly|1083/2898|1071/2847|357/948||,A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|3/16|c.390G>A|p.Gly130Gly|1132/3306|390/2391|130/796||,A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|3/14|c.390G>A|p.Gly130Gly|1132/3078|390/2163|130/720||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.1071G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.1071G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.1071G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.1071G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.1071G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.1071G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.1071G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.1071G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.1071G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.1071G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.1071G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.1071G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.1071G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.1071G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.1071G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000248933|protein_coding|3/17|c.1071G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000248933|protein_coding|4/17|c.1071G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000248933|protein_coding|5/17|c.1071G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000404234|protein_coding|3/17|c.1071G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000404234|protein_coding|4/17|c.1071G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000404234|protein_coding|5/17|c.1071G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000529632|protein_coding|3/16|c.1071G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000529632|protein_coding|4/16|c.1071G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000529632|protein_coding|5/16|c.1071G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000360929|protein_coding|3/15|c.1071G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000360929|protein_coding|4/15|c.1071G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000360929|protein_coding|5/15|c.1071G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000343706|protein_coding|3/15|c.1071G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000343706|protein_coding|4/15|c.1071G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000343706|protein_coding|5/15|c.1071G>A|||||| 22 26693079 . C T . . 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T C . . ANN=C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.1163-31T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.1163-31T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.1163-31T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.1163-31T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.1163-31T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.1163-31T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.1163-31T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.1163-31T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.1163-31T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.1163-31T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.1163-31T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.1163-31T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.1163-31T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.1163-31T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.1163-31T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000248933|protein_coding|3/17|c.1163-31T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000248933|protein_coding|4/17|c.1163-31T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000248933|protein_coding|5/17|c.1163-31T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000404234|protein_coding|3/17|c.1163-31T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000404234|protein_coding|4/17|c.1163-31T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000404234|protein_coding|5/17|c.1163-31T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000529632|protein_coding|3/16|c.1163-31T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000529632|protein_coding|4/16|c.1163-31T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000529632|protein_coding|5/16|c.1163-31T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000360929|protein_coding|3/15|c.1163-31T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000360929|protein_coding|4/15|c.1163-31T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000360929|protein_coding|5/15|c.1163-31T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000343706|protein_coding|3/15|c.1163-31T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000343706|protein_coding|4/15|c.1163-31T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_1|ENST00000343706|protein_coding|5/15|c.1163-31T>C||||||,C|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|4/16|c.1163-31T>C||||||,C|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|4/16|c.1163-31T>C||||||,C|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|4/15|c.1163-31T>C||||||,C|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|4/14|c.1163-31T>C||||||,C|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|4/14|c.1163-31T>C||||||,C|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|3/15|c.482-31T>C||||||,C|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|3/13|c.482-31T>C|||||| 22 26695053 . C A . . ANN=A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|5/17|c.1266C>A|p.Gly422Gly|1361/3248|1266/3075|422/1024||,A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|5/17|c.1266C>A|p.Gly422Gly|1462/3444|1266/3072|422/1023||,A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|5/16|c.1266C>A|p.Gly422Gly|1462/6532|1266/3042|422/1013||,A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|5/15|c.1266C>A|p.Gly422Gly|1422/6307|1266/2850|422/949||,A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|5/15|c.1266C>A|p.Gly422Gly|1278/2898|1266/2847|422/948||,A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|4/16|c.585C>A|p.Gly195Gly|1327/3306|585/2391|195/796||,A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|4/14|c.585C>A|p.Gly195Gly|1327/3078|585/2163|195/720||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.1266C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.1266C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.1266C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.1266C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.1266C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.1266C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.1266C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.1266C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.1266C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.1266C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.1266C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.1266C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.1266C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.1266C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.1266C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000248933|protein_coding|6/17|c.1266C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000248933|protein_coding|5/17|c.1266C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000248933|protein_coding|5/17|c.1266C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000404234|protein_coding|6/17|c.1266C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000404234|protein_coding|5/17|c.1266C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000404234|protein_coding|5/17|c.1266C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000529632|protein_coding|6/16|c.1266C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000529632|protein_coding|5/16|c.1266C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000529632|protein_coding|5/16|c.1266C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000360929|protein_coding|6/15|c.1266C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000360929|protein_coding|5/15|c.1266C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000360929|protein_coding|5/15|c.1266C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000343706|protein_coding|6/15|c.1266C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000343706|protein_coding|5/15|c.1266C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000343706|protein_coding|5/15|c.1266C>A|||||| 22 26695077 . G T . . ANN=T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|5/17|c.1290G>T|p.Met430Ile|1385/3248|1290/3075|430/1024||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|5/17|c.1290G>T|p.Met430Ile|1486/3444|1290/3072|430/1023||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|5/16|c.1290G>T|p.Met430Ile|1486/6532|1290/3042|430/1013||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|5/15|c.1290G>T|p.Met430Ile|1446/6307|1290/2850|430/949||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|5/15|c.1290G>T|p.Met430Ile|1302/2898|1290/2847|430/948||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|4/16|c.609G>T|p.Met203Ile|1351/3306|609/2391|203/796||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|4/14|c.609G>T|p.Met203Ile|1351/3078|609/2163|203/720||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000248933|protein_coding|6/17|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000248933|protein_coding|5/17|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000248933|protein_coding|5/17|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000404234|protein_coding|6/17|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000404234|protein_coding|5/17|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000404234|protein_coding|5/17|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000529632|protein_coding|6/16|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000529632|protein_coding|5/16|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000529632|protein_coding|5/16|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000360929|protein_coding|6/15|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000360929|protein_coding|5/15|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000360929|protein_coding|5/15|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000343706|protein_coding|6/15|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000343706|protein_coding|5/15|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000343706|protein_coding|5/15|c.1290G>T|||||| 22 26695104 . G A . . ANN=A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|5/17|c.1317G>A|p.Pro439Pro|1412/3248|1317/3075|439/1024||,A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|5/17|c.1317G>A|p.Pro439Pro|1513/3444|1317/3072|439/1023||,A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|5/16|c.1317G>A|p.Pro439Pro|1513/6532|1317/3042|439/1013||,A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|5/15|c.1317G>A|p.Pro439Pro|1473/6307|1317/2850|439/949||,A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|5/15|c.1317G>A|p.Pro439Pro|1329/2898|1317/2847|439/948||,A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|4/16|c.636G>A|p.Pro212Pro|1378/3306|636/2391|212/796||,A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|4/14|c.636G>A|p.Pro212Pro|1378/3078|636/2163|212/720||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.1317G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.1317G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.1317G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.1317G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.1317G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.1317G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.1317G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.1317G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.1317G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.1317G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.1317G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.1317G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.1317G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.1317G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.1317G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000248933|protein_coding|6/17|c.1317G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000248933|protein_coding|5/17|c.1317G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000248933|protein_coding|5/17|c.1317G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000404234|protein_coding|6/17|c.1317G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000404234|protein_coding|5/17|c.1317G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000404234|protein_coding|5/17|c.1317G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000529632|protein_coding|6/16|c.1317G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000529632|protein_coding|5/16|c.1317G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000529632|protein_coding|5/16|c.1317G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000360929|protein_coding|6/15|c.1317G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000360929|protein_coding|5/15|c.1317G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000360929|protein_coding|5/15|c.1317G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000343706|protein_coding|6/15|c.1317G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000343706|protein_coding|5/15|c.1317G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000343706|protein_coding|5/15|c.1317G>A|||||| 22 26701907 . G A . . ANN=A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.1349-38G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.1349-38G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.1349-38G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.1349-38G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.1349-38G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.1349-38G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.1349-38G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.1349-38G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.1349-38G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.1349-38G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.1349-38G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.1349-38G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.1349-38G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.1349-38G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.1349-38G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000248933|protein_coding|6/17|c.1349-38G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000248933|protein_coding|5/17|c.1349-38G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000404234|protein_coding|6/17|c.1349-38G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000404234|protein_coding|5/17|c.1349-38G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000529632|protein_coding|6/16|c.1349-38G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000529632|protein_coding|5/16|c.1349-38G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000360929|protein_coding|6/15|c.1349-38G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000360929|protein_coding|5/15|c.1349-38G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000343706|protein_coding|6/15|c.1349-38G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000343706|protein_coding|5/15|c.1349-38G>A||||||,A|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|5/16|c.1349-38G>A||||||,A|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|5/16|c.1349-38G>A||||||,A|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|5/15|c.1349-38G>A||||||,A|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|5/14|c.1349-38G>A||||||,A|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|5/14|c.1349-38G>A||||||,A|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|4/15|c.668-38G>A||||||,A|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|4/13|c.668-38G>A|||||| 22 26701917 . A G . . ANN=G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.1349-28A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.1349-28A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.1349-28A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.1349-28A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.1349-28A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.1349-28A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.1349-28A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.1349-28A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.1349-28A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.1349-28A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.1349-28A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.1349-28A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.1349-28A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.1349-28A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.1349-28A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000248933|protein_coding|6/17|c.1349-28A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000248933|protein_coding|5/17|c.1349-28A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000404234|protein_coding|6/17|c.1349-28A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000404234|protein_coding|5/17|c.1349-28A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000529632|protein_coding|6/16|c.1349-28A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000529632|protein_coding|5/16|c.1349-28A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000360929|protein_coding|6/15|c.1349-28A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000360929|protein_coding|5/15|c.1349-28A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000343706|protein_coding|6/15|c.1349-28A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000343706|protein_coding|5/15|c.1349-28A>G||||||,G|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|5/16|c.1349-28A>G||||||,G|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|5/16|c.1349-28A>G||||||,G|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|5/15|c.1349-28A>G||||||,G|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|5/14|c.1349-28A>G||||||,G|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|5/14|c.1349-28A>G||||||,G|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|4/15|c.668-28A>G||||||,G|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|4/13|c.668-28A>G|||||| 22 26701928 . AC A . . ANN=|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.1349-16delC||||||,|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.1349-16delC||||||,|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.1349-16delC||||||,|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.1349-16delC||||||,|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.1349-16delC||||||,|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.1349-16delC||||||,|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.1349-16delC||||||,|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.1349-16delC||||||,|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.1349-16delC||||||,|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.1349-16delC||||||,|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.1349-16delC||||||,|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.1349-16delC||||||,|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.1349-16delC||||||,|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.1349-16delC||||||,|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.1349-16delC||||||,|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000248933|protein_coding|6/17|c.1349-16delC||||||,|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000248933|protein_coding|5/17|c.1349-16delC||||||,|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000404234|protein_coding|6/17|c.1349-16delC||||||,|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000404234|protein_coding|5/17|c.1349-16delC||||||,|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000529632|protein_coding|6/16|c.1349-16delC||||||,|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000529632|protein_coding|5/16|c.1349-16delC||||||,|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000360929|protein_coding|6/15|c.1349-16delC||||||,|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000360929|protein_coding|5/15|c.1349-16delC||||||,|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000343706|protein_coding|6/15|c.1349-16delC||||||,|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000343706|protein_coding|5/15|c.1349-16delC||||||,|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|5/16|c.1349-13delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|5/16|c.1349-13delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|5/15|c.1349-13delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|5/14|c.1349-13delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|5/14|c.1349-13delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|4/15|c.668-13delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|4/13|c.668-13delC||||||INFO_REALIGN_3_PRIME 22 26701977 . A G . . ANN=G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|6/17|c.1381A>G|p.Ile461Val|1476/3248|1381/3075|461/1024||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|6/17|c.1381A>G|p.Ile461Val|1577/3444|1381/3072|461/1023||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|6/16|c.1381A>G|p.Ile461Val|1577/6532|1381/3042|461/1013||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|6/15|c.1381A>G|p.Ile461Val|1537/6307|1381/2850|461/949||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|6/15|c.1381A>G|p.Ile461Val|1393/2898|1381/2847|461/948||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|5/16|c.700A>G|p.Ile234Val|1442/3306|700/2391|234/796||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|5/14|c.700A>G|p.Ile234Val|1442/3078|700/2163|234/720||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000248933|protein_coding|6/17|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000248933|protein_coding|7/17|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000248933|protein_coding|8/17|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000404234|protein_coding|6/17|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000404234|protein_coding|7/17|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000404234|protein_coding|8/17|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000529632|protein_coding|6/16|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000529632|protein_coding|7/16|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000529632|protein_coding|8/16|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000360929|protein_coding|6/15|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000360929|protein_coding|7/15|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000360929|protein_coding|8/15|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000343706|protein_coding|6/15|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000343706|protein_coding|7/15|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000343706|protein_coding|8/15|c.1381A>G|||||| 22 26701988 . C T . . ANN=T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|6/17|c.1392C>T|p.Val464Val|1487/3248|1392/3075|464/1024||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|6/17|c.1392C>T|p.Val464Val|1588/3444|1392/3072|464/1023||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|6/16|c.1392C>T|p.Val464Val|1588/6532|1392/3042|464/1013||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|6/15|c.1392C>T|p.Val464Val|1548/6307|1392/2850|464/949||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|6/15|c.1392C>T|p.Val464Val|1404/2898|1392/2847|464/948||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|5/16|c.711C>T|p.Val237Val|1453/3306|711/2391|237/796||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|5/14|c.711C>T|p.Val237Val|1453/3078|711/2163|237/720||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.1392C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.1392C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.1392C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.1392C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.1392C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.1392C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.1392C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.1392C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.1392C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.1392C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.1392C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.1392C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.1392C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.1392C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.1392C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000248933|protein_coding|6/17|c.1392C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000248933|protein_coding|7/17|c.1392C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000248933|protein_coding|8/17|c.1392C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000404234|protein_coding|6/17|c.1392C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000404234|protein_coding|7/17|c.1392C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000404234|protein_coding|8/17|c.1392C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000529632|protein_coding|6/16|c.1392C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000529632|protein_coding|7/16|c.1392C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000529632|protein_coding|8/16|c.1392C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000360929|protein_coding|6/15|c.1392C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000360929|protein_coding|7/15|c.1392C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000360929|protein_coding|8/15|c.1392C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000343706|protein_coding|6/15|c.1392C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000343706|protein_coding|7/15|c.1392C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000343706|protein_coding|8/15|c.1392C>T|||||| 22 26702015 . A C . . 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C T . . ANN=T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|6/17|c.1445C>T|p.Thr482Met|1540/3248|1445/3075|482/1024||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|6/17|c.1445C>T|p.Thr482Met|1641/3444|1445/3072|482/1023||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|6/16|c.1445C>T|p.Thr482Met|1641/6532|1445/3042|482/1013||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|6/15|c.1445C>T|p.Thr482Met|1601/6307|1445/2850|482/949||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|6/15|c.1445C>T|p.Thr482Met|1457/2898|1445/2847|482/948||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|5/16|c.764C>T|p.Thr255Met|1506/3306|764/2391|255/796||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|5/14|c.764C>T|p.Thr255Met|1506/3078|764/2163|255/720||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000248933|protein_coding|6/17|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000248933|protein_coding|7/17|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000248933|protein_coding|8/17|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000404234|protein_coding|6/17|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000404234|protein_coding|7/17|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000404234|protein_coding|8/17|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000529632|protein_coding|6/16|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000529632|protein_coding|7/16|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000529632|protein_coding|8/16|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000360929|protein_coding|6/15|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000360929|protein_coding|7/15|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000360929|protein_coding|8/15|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000343706|protein_coding|6/15|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000343706|protein_coding|7/15|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000343706|protein_coding|8/15|c.1445C>T|||||| 22 26706696 . C T . . ANN=T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|7/17|c.1575C>T|p.Thr525Thr|1670/3248|1575/3075|525/1024||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|7/17|c.1575C>T|p.Thr525Thr|1771/3444|1575/3072|525/1023||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|7/16|c.1575C>T|p.Thr525Thr|1771/6532|1575/3042|525/1013||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|7/15|c.1575C>T|p.Thr525Thr|1731/6307|1575/2850|525/949||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|7/15|c.1575C>T|p.Thr525Thr|1587/2898|1575/2847|525/948||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|6/16|c.894C>T|p.Thr298Thr|1636/3306|894/2391|298/796||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|6/14|c.894C>T|p.Thr298Thr|1636/3078|894/2163|298/720||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.1575C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.1575C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.1575C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.1575C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.1575C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.1575C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.1575C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.1575C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.1575C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.1575C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.1575C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.1575C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.1575C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.1575C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.1575C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000248933|protein_coding|6/17|c.1575C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000248933|protein_coding|7/17|c.1575C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000248933|protein_coding|8/17|c.1575C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000404234|protein_coding|6/17|c.1575C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000404234|protein_coding|7/17|c.1575C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000404234|protein_coding|8/17|c.1575C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000529632|protein_coding|6/16|c.1575C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000529632|protein_coding|7/16|c.1575C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000529632|protein_coding|8/16|c.1575C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000360929|protein_coding|6/15|c.1575C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000360929|protein_coding|7/15|c.1575C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000360929|protein_coding|8/15|c.1575C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000343706|protein_coding|6/15|c.1575C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000343706|protein_coding|7/15|c.1575C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000343706|protein_coding|8/15|c.1575C>T|||||| 22 26706697 . G A . . ANN=A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|7/17|c.1576G>A|p.Glu526Lys|1671/3248|1576/3075|526/1024||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|7/17|c.1576G>A|p.Glu526Lys|1772/3444|1576/3072|526/1023||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|7/16|c.1576G>A|p.Glu526Lys|1772/6532|1576/3042|526/1013||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|7/15|c.1576G>A|p.Glu526Lys|1732/6307|1576/2850|526/949||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|7/15|c.1576G>A|p.Glu526Lys|1588/2898|1576/2847|526/948||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|6/16|c.895G>A|p.Glu299Lys|1637/3306|895/2391|299/796||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|6/14|c.895G>A|p.Glu299Lys|1637/3078|895/2163|299/720||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000248933|protein_coding|6/17|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000248933|protein_coding|7/17|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000248933|protein_coding|8/17|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000404234|protein_coding|6/17|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000404234|protein_coding|7/17|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000404234|protein_coding|8/17|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000529632|protein_coding|6/16|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000529632|protein_coding|7/16|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000529632|protein_coding|8/16|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000360929|protein_coding|6/15|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000360929|protein_coding|7/15|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000360929|protein_coding|8/15|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000343706|protein_coding|6/15|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000343706|protein_coding|7/15|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000343706|protein_coding|8/15|c.1576G>A|||||| 22 26706743 . G A . . ANN=A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|7/17|c.1622G>A|p.Arg541His|1717/3248|1622/3075|541/1024||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|7/17|c.1622G>A|p.Arg541His|1818/3444|1622/3072|541/1023||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|7/16|c.1622G>A|p.Arg541His|1818/6532|1622/3042|541/1013||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|7/15|c.1622G>A|p.Arg541His|1778/6307|1622/2850|541/949||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|7/15|c.1622G>A|p.Arg541His|1634/2898|1622/2847|541/948||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|6/16|c.941G>A|p.Arg314His|1683/3306|941/2391|314/796||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|6/14|c.941G>A|p.Arg314His|1683/3078|941/2163|314/720||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000248933|protein_coding|6/17|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000248933|protein_coding|7/17|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000248933|protein_coding|8/17|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000404234|protein_coding|6/17|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000404234|protein_coding|7/17|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000404234|protein_coding|8/17|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000529632|protein_coding|6/16|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000529632|protein_coding|7/16|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000529632|protein_coding|8/16|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000360929|protein_coding|6/15|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000360929|protein_coding|7/15|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000360929|protein_coding|8/15|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000343706|protein_coding|6/15|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000343706|protein_coding|7/15|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000343706|protein_coding|8/15|c.1622G>A|||||| 22 26706747 . C T . . ANN=T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|7/17|c.1626C>T|p.Ile542Ile|1721/3248|1626/3075|542/1024||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|7/17|c.1626C>T|p.Ile542Ile|1822/3444|1626/3072|542/1023||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|7/16|c.1626C>T|p.Ile542Ile|1822/6532|1626/3042|542/1013||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|7/15|c.1626C>T|p.Ile542Ile|1782/6307|1626/2850|542/949||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|7/15|c.1626C>T|p.Ile542Ile|1638/2898|1626/2847|542/948||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|6/16|c.945C>T|p.Ile315Ile|1687/3306|945/2391|315/796||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|6/14|c.945C>T|p.Ile315Ile|1687/3078|945/2163|315/720||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.1626C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.1626C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.1626C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.1626C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.1626C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.1626C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.1626C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.1626C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.1626C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.1626C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.1626C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.1626C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.1626C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.1626C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.1626C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000248933|protein_coding|6/17|c.1626C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000248933|protein_coding|7/17|c.1626C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000248933|protein_coding|8/17|c.1626C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000404234|protein_coding|6/17|c.1626C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000404234|protein_coding|7/17|c.1626C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000404234|protein_coding|8/17|c.1626C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000529632|protein_coding|6/16|c.1626C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000529632|protein_coding|7/16|c.1626C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000529632|protein_coding|8/16|c.1626C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000360929|protein_coding|6/15|c.1626C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000360929|protein_coding|7/15|c.1626C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000360929|protein_coding|8/15|c.1626C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000343706|protein_coding|6/15|c.1626C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000343706|protein_coding|7/15|c.1626C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000343706|protein_coding|8/15|c.1626C>T|||||| 22 26706755 . C T . . ANN=T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|7/17|c.1634C>T|p.Thr545Met|1729/3248|1634/3075|545/1024||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|7/17|c.1634C>T|p.Thr545Met|1830/3444|1634/3072|545/1023||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|7/16|c.1634C>T|p.Thr545Met|1830/6532|1634/3042|545/1013||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|7/15|c.1634C>T|p.Thr545Met|1790/6307|1634/2850|545/949||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|7/15|c.1634C>T|p.Thr545Met|1646/2898|1634/2847|545/948||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|6/16|c.953C>T|p.Thr318Met|1695/3306|953/2391|318/796||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|6/14|c.953C>T|p.Thr318Met|1695/3078|953/2163|318/720||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000248933|protein_coding|6/17|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000248933|protein_coding|7/17|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000248933|protein_coding|8/17|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000404234|protein_coding|6/17|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000404234|protein_coding|7/17|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000404234|protein_coding|8/17|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000529632|protein_coding|6/16|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000529632|protein_coding|7/16|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000529632|protein_coding|8/16|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000360929|protein_coding|6/15|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000360929|protein_coding|7/15|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000360929|protein_coding|8/15|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000343706|protein_coding|6/15|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000343706|protein_coding|7/15|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000343706|protein_coding|8/15|c.1634C>T|||||| 22 26706780 . C T . . ANN=T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|7/17|c.1659C>T|p.Ser553Ser|1754/3248|1659/3075|553/1024||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|7/17|c.1659C>T|p.Ser553Ser|1855/3444|1659/3072|553/1023||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|7/16|c.1659C>T|p.Ser553Ser|1855/6532|1659/3042|553/1013||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|7/15|c.1659C>T|p.Ser553Ser|1815/6307|1659/2850|553/949||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|7/15|c.1659C>T|p.Ser553Ser|1671/2898|1659/2847|553/948||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|6/16|c.978C>T|p.Ser326Ser|1720/3306|978/2391|326/796||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|6/14|c.978C>T|p.Ser326Ser|1720/3078|978/2163|326/720||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.1659C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.1659C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.1659C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.1659C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.1659C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.1659C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.1659C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.1659C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.1659C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.1659C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.1659C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.1659C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.1659C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.1659C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.1659C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000248933|protein_coding|6/17|c.1659C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000248933|protein_coding|7/17|c.1659C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000248933|protein_coding|8/17|c.1659C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000404234|protein_coding|6/17|c.1659C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000404234|protein_coding|7/17|c.1659C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000404234|protein_coding|8/17|c.1659C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000529632|protein_coding|6/16|c.1659C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000529632|protein_coding|7/16|c.1659C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000529632|protein_coding|8/16|c.1659C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000360929|protein_coding|6/15|c.1659C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000360929|protein_coding|7/15|c.1659C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000360929|protein_coding|8/15|c.1659C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000343706|protein_coding|6/15|c.1659C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000343706|protein_coding|7/15|c.1659C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000343706|protein_coding|8/15|c.1659C>T|||||| 22 26706824 . C T . . 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T C . . 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T C . . 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G T . . 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G A . . ANN=A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|8/17|c.1840G>A|p.Asp614Asn|1935/3248|1840/3075|614/1024||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|8/17|c.1840G>A|p.Asp614Asn|2036/3444|1840/3072|614/1023||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|8/16|c.1840G>A|p.Asp614Asn|2036/6532|1840/3042|614/1013||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|8/15|c.1840G>A|p.Asp614Asn|1996/6307|1840/2850|614/949||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|8/15|c.1840G>A|p.Asp614Asn|1852/2898|1840/2847|614/948||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|7/16|c.1159G>A|p.Asp387Asn|1901/3306|1159/2391|387/796||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|7/14|c.1159G>A|p.Asp387Asn|1901/3078|1159/2163|387/720||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_2|ENST00000248933|protein_coding|9/17|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_2|ENST00000248933|protein_coding|8/17|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000248933|protein_coding|8/17|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_2|ENST00000404234|protein_coding|9/17|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_2|ENST00000404234|protein_coding|8/17|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000404234|protein_coding|8/17|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_2|ENST00000529632|protein_coding|9/16|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_2|ENST00000529632|protein_coding|8/16|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000529632|protein_coding|8/16|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_2|ENST00000360929|protein_coding|9/15|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_2|ENST00000360929|protein_coding|8/15|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000360929|protein_coding|8/15|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_2|ENST00000343706|protein_coding|9/15|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_2|ENST00000343706|protein_coding|8/15|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000343706|protein_coding|8/15|c.1840G>A|||||| 22 26709694 . A G . . ANN=G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.1877-36A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.1877-36A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.1877-36A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.1877-36A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.1877-36A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.1877-36A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.1877-36A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.1877-36A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.1877-36A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.1877-36A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.1877-36A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.1877-36A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.1877-36A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.1877-36A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.1877-36A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_2|ENST00000248933|protein_coding|9/17|c.1877-36A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_2|ENST00000248933|protein_coding|8/17|c.1877-36A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_2|ENST00000404234|protein_coding|9/17|c.1877-36A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_2|ENST00000404234|protein_coding|8/17|c.1877-36A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_2|ENST00000529632|protein_coding|9/16|c.1877-36A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_2|ENST00000529632|protein_coding|8/16|c.1877-36A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_2|ENST00000360929|protein_coding|9/15|c.1877-36A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_2|ENST00000360929|protein_coding|8/15|c.1877-36A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_2|ENST00000343706|protein_coding|9/15|c.1877-36A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_2|ENST00000343706|protein_coding|8/15|c.1877-36A>G||||||,G|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|8/16|c.1877-36A>G||||||,G|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|8/16|c.1877-36A>G||||||,G|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|8/15|c.1877-36A>G||||||,G|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|8/14|c.1877-36A>G||||||,G|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|8/14|c.1877-36A>G||||||,G|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|7/15|c.1196-36A>G||||||,G|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|7/13|c.1196-36A>G|||||| 22 26709720 . T C . . 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C T . . 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TAATTTGGCA T . . 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ST00000402979|protein_coding|8/15|c.1334+30_1334+38delTTTGGCAAA||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|8/13|c.1334+30_1334+38delTTTGGCAAA||||||INFO_REALIGN_3_PRIME 22 26736393 . C A . . 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G A . . 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C T . . 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G A . . ANN=A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.2213-49G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.2213-49G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.2213-49G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.2213-49G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.2213-49G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.2213-49G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.2213-49G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.2213-49G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.2213-49G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.2213-49G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.2213-49G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.2213-49G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.2213-49G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.2213-49G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.2213-49G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_3|ENST00000248933|protein_coding|11/17|c.2213-49G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_3|ENST00000248933|protein_coding|9/17|c.2213-49G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_3|ENST00000248933|protein_coding|10/17|c.2213-49G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_3|ENST00000404234|protein_coding|11/17|c.2213-49G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_3|ENST00000404234|protein_coding|9/17|c.2213-49G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_3|ENST00000404234|protein_coding|10/17|c.2213-49G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_3|ENST00000529632|protein_coding|11/16|c.2213-49G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_3|ENST00000529632|protein_coding|9/16|c.2213-49G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_3|ENST00000529632|protein_coding|10/16|c.2213-49G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_3|ENST00000360929|protein_coding|11/15|c.2213-49G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_3|ENST00000360929|protein_coding|9/15|c.2213-49G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_3|ENST00000360929|protein_coding|10/15|c.2213-49G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_3|ENST00000343706|protein_coding|11/15|c.2213-49G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_3|ENST00000343706|protein_coding|9/15|c.2213-49G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_3|ENST00000343706|protein_coding|10/15|c.2213-49G>A||||||,A|upstream_gene_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000411842|protein_coding||c.-202G>A|||||45|,A|upstream_gene_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000483291|retained_intron||n.-1G>A|||||119|,A|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|10/16|c.2213-49G>A||||||,A|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|10/16|c.2213-49G>A||||||,A|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|10/15|c.2213-49G>A||||||,A|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|10/14|c.2213-49G>A||||||,A|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|10/14|c.2213-49G>A||||||,A|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|9/15|c.1532-49G>A||||||,A|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|9/13|c.1532-49G>A|||||| 22 26743689 . A G . . ANN=G|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|11/17|c.2217A>G|p.Val739Val|2312/3248|2217/3075|739/1024||,G|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|11/17|c.2217A>G|p.Val739Val|2413/3444|2217/3072|739/1023||,G|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|11/16|c.2217A>G|p.Val739Val|2413/6532|2217/3042|739/1013||,G|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|11/15|c.2217A>G|p.Val739Val|2373/6307|2217/2850|739/949||,G|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|11/15|c.2217A>G|p.Val739Val|2229/2898|2217/2847|739/948||,G|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|10/16|c.1536A>G|p.Val512Val|2278/3306|1536/2391|512/796||,G|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|10/14|c.1536A>G|p.Val512Val|2278/3078|1536/2163|512/720||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.2217A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.2217A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.2217A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.2217A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.2217A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.2217A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.2217A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.2217A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.2217A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.2217A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.2217A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.2217A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.2217A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.2217A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.2217A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_3|ENST00000248933|protein_coding|11/17|c.2217A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_3|ENST00000248933|protein_coding|9/17|c.2217A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_3|ENST00000248933|protein_coding|10/17|c.2217A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_3|ENST00000404234|protein_coding|11/17|c.2217A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_3|ENST00000404234|protein_coding|9/17|c.2217A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_3|ENST00000404234|protein_coding|10/17|c.2217A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_3|ENST00000529632|protein_coding|11/16|c.2217A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_3|ENST00000529632|protein_coding|9/16|c.2217A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_3|ENST00000529632|protein_coding|10/16|c.2217A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_3|ENST00000360929|protein_coding|11/15|c.2217A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_3|ENST00000360929|protein_coding|9/15|c.2217A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_3|ENST00000360929|protein_coding|10/15|c.2217A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_3|ENST00000343706|protein_coding|11/15|c.2217A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_3|ENST00000343706|protein_coding|9/15|c.2217A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_3|ENST00000343706|protein_coding|10/15|c.2217A>G||||||,G|5_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000411842|protein_coding|1/5|c.-193A>G|||||3331|,G|upstream_gene_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000483291|retained_intron||n.-1A>G|||||66| 22 26743751 . A T . . ANN=T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|11/17|c.2279A>T|p.His760Leu|2374/3248|2279/3075|760/1024||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|11/17|c.2279A>T|p.His760Leu|2475/3444|2279/3072|760/1023||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|11/16|c.2279A>T|p.His760Leu|2475/6532|2279/3042|760/1013||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|11/15|c.2279A>T|p.His760Leu|2435/6307|2279/2850|760/949||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|11/15|c.2279A>T|p.His760Leu|2291/2898|2279/2847|760/948||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|10/16|c.1598A>T|p.His533Leu|2340/3306|1598/2391|533/796||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|10/14|c.1598A>T|p.His533Leu|2340/3078|1598/2163|533/720||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_3|ENST00000248933|protein_coding|11/17|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000248933|protein_coding|11/17|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|beta_strand|ENST00000248933|protein_coding|11/17|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_3|ENST00000404234|protein_coding|11/17|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000404234|protein_coding|11/17|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|beta_strand|ENST00000404234|protein_coding|11/17|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_3|ENST00000529632|protein_coding|11/16|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000529632|protein_coding|11/16|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|beta_strand|ENST00000529632|protein_coding|11/16|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_3|ENST00000360929|protein_coding|11/15|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000360929|protein_coding|11/15|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|beta_strand|ENST00000360929|protein_coding|11/15|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_3|ENST00000343706|protein_coding|11/15|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000343706|protein_coding|11/15|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|beta_strand|ENST00000343706|protein_coding|11/15|c.2279A>T||||||,T|5_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000411842|protein_coding|1/5|c.-131A>T|||||3269|,T|upstream_gene_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000483291|retained_intron||n.-1A>T|||||4| 22 26743797 . C T . . ANN=T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|11/17|c.2325C>T|p.Pro775Pro|2420/3248|2325/3075|775/1024||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|11/17|c.2325C>T|p.Pro775Pro|2521/3444|2325/3072|775/1023||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|11/16|c.2325C>T|p.Pro775Pro|2521/6532|2325/3042|775/1013||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|11/15|c.2325C>T|p.Pro775Pro|2481/6307|2325/2850|775/949||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|11/15|c.2325C>T|p.Pro775Pro|2337/2898|2325/2847|775/948||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|10/16|c.1644C>T|p.Pro548Pro|2386/3306|1644/2391|548/796||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|10/14|c.1644C>T|p.Pro548Pro|2386/3078|1644/2163|548/720||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000411842|protein_coding|1/5|c.-85C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.2325C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.2325C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.2325C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.2325C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.2325C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.2325C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.2325C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.2325C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.2325C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.2325C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.2325C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.2325C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.2325C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.2325C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.2325C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_3|ENST00000248933|protein_coding|11/17|c.2325C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000248933|protein_coding|11/17|c.2325C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_3|ENST00000404234|protein_coding|11/17|c.2325C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000404234|protein_coding|11/17|c.2325C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_3|ENST00000529632|protein_coding|11/16|c.2325C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000529632|protein_coding|11/16|c.2325C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_3|ENST00000360929|protein_coding|11/15|c.2325C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000360929|protein_coding|11/15|c.2325C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_3|ENST00000343706|protein_coding|11/15|c.2325C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000343706|protein_coding|11/15|c.2325C>T||||||,T|5_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000411842|protein_coding|1/5|c.-85C>T|||||3223|,T|non_coding_exon_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000483291|retained_intron|1/2|n.43C>T|||||| 22 26743809 . C T . . ANN=T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|11/17|c.2337C>T|p.Ile779Ile|2432/3248|2337/3075|779/1024||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|11/17|c.2337C>T|p.Ile779Ile|2533/3444|2337/3072|779/1023||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|11/16|c.2337C>T|p.Ile779Ile|2533/6532|2337/3042|779/1013||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|11/15|c.2337C>T|p.Ile779Ile|2493/6307|2337/2850|779/949||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|11/15|c.2337C>T|p.Ile779Ile|2349/2898|2337/2847|779/948||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|10/16|c.1656C>T|p.Ile552Ile|2398/3306|1656/2391|552/796||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|10/14|c.1656C>T|p.Ile552Ile|2398/3078|1656/2163|552/720||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000411842|protein_coding|1/5|c.-73C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.2337C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.2337C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.2337C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.2337C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.2337C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.2337C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.2337C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.2337C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.2337C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.2337C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.2337C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.2337C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.2337C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.2337C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.2337C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_3|ENST00000248933|protein_coding|11/17|c.2337C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000248933|protein_coding|11/17|c.2337C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|beta_strand|ENST00000248933|protein_coding|11/17|c.2337C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_3|ENST00000404234|protein_coding|11/17|c.2337C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000404234|protein_coding|11/17|c.2337C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|beta_strand|ENST00000404234|protein_coding|11/17|c.2337C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_3|ENST00000529632|protein_coding|11/16|c.2337C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000529632|protein_coding|11/16|c.2337C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|beta_strand|ENST00000529632|protein_coding|11/16|c.2337C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_3|ENST00000360929|protein_coding|11/15|c.2337C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000360929|protein_coding|11/15|c.2337C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|beta_strand|ENST00000360929|protein_coding|11/15|c.2337C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_3|ENST00000343706|protein_coding|11/15|c.2337C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000343706|protein_coding|11/15|c.2337C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|beta_strand|ENST00000343706|protein_coding|11/15|c.2337C>T||||||,T|5_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000411842|protein_coding|1/5|c.-73C>T|||||3211|,T|non_coding_exon_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000483291|retained_intron|1/2|n.55C>T|||||| 22 26743866 . A T . . ANN=T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|11/17|c.2394A>T|p.Pro798Pro|2489/3248|2394/3075|798/1024||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|11/17|c.2394A>T|p.Pro798Pro|2590/3444|2394/3072|798/1023||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|11/16|c.2394A>T|p.Pro798Pro|2590/6532|2394/3042|798/1013||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|11/15|c.2394A>T|p.Pro798Pro|2550/6307|2394/2850|798/949||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|11/15|c.2394A>T|p.Pro798Pro|2406/2898|2394/2847|798/948||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|10/16|c.1713A>T|p.Pro571Pro|2455/3306|1713/2391|571/796||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|10/14|c.1713A>T|p.Pro571Pro|2455/3078|1713/2163|571/720||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.2394A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.2394A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.2394A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.2394A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.2394A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.2394A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.2394A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.2394A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.2394A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.2394A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.2394A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.2394A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.2394A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.2394A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.2394A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_3|ENST00000248933|protein_coding|11/17|c.2394A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000248933|protein_coding|11/17|c.2394A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_3|ENST00000404234|protein_coding|11/17|c.2394A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000404234|protein_coding|11/17|c.2394A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_3|ENST00000529632|protein_coding|11/16|c.2394A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000529632|protein_coding|11/16|c.2394A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_3|ENST00000360929|protein_coding|11/15|c.2394A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000360929|protein_coding|11/15|c.2394A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_3|ENST00000343706|protein_coding|11/15|c.2394A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000343706|protein_coding|11/15|c.2394A>T||||||,T|5_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000411842|protein_coding|1/5|c.-16A>T|||||3154|,T|non_coding_exon_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000483291|retained_intron|1/2|n.112A>T|||||| 22 26743875 . G A . . ANN=A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|11/17|c.2403G>A|p.Glu801Glu|2498/3248|2403/3075|801/1024||,A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|11/17|c.2403G>A|p.Glu801Glu|2599/3444|2403/3072|801/1023||,A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|11/16|c.2403G>A|p.Glu801Glu|2599/6532|2403/3042|801/1013||,A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|11/15|c.2403G>A|p.Glu801Glu|2559/6307|2403/2850|801/949||,A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|11/15|c.2403G>A|p.Glu801Glu|2415/2898|2403/2847|801/948||,A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|10/16|c.1722G>A|p.Glu574Glu|2464/3306|1722/2391|574/796||,A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|10/14|c.1722G>A|p.Glu574Glu|2464/3078|1722/2163|574/720||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.2403G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.2403G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.2403G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.2403G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.2403G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.2403G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.2403G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.2403G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.2403G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.2403G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.2403G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.2403G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.2403G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.2403G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.2403G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_3|ENST00000248933|protein_coding|11/17|c.2403G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|beta_strand|ENST00000248933|protein_coding|11/17|c.2403G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_3|ENST00000404234|protein_coding|11/17|c.2403G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|beta_strand|ENST00000404234|protein_coding|11/17|c.2403G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_3|ENST00000529632|protein_coding|11/16|c.2403G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|beta_strand|ENST00000529632|protein_coding|11/16|c.2403G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_3|ENST00000360929|protein_coding|11/15|c.2403G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|beta_strand|ENST00000360929|protein_coding|11/15|c.2403G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_3|ENST00000343706|protein_coding|11/15|c.2403G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|beta_strand|ENST00000343706|protein_coding|11/15|c.2403G>A||||||,A|5_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000411842|protein_coding|1/5|c.-7G>A|||||3145|,A|non_coding_exon_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000483291|retained_intron|1/2|n.121G>A|||||| 22 26747085 . G A . . ANN=A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|12/17|c.2475G>A|p.Leu825Leu|2570/3248|2475/3075|825/1024||,A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|12/17|c.2475G>A|p.Leu825Leu|2671/3444|2475/3072|825/1023||,A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|12/16|c.2475G>A|p.Leu825Leu|2671/6532|2475/3042|825/1013||,A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|12/15|c.2475G>A|p.Leu825Leu|2487/2898|2475/2847|825/948||,A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|11/16|c.1794G>A|p.Leu598Leu|2536/3306|1794/2391|598/796||,A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|11/14|c.1794G>A|p.Leu598Leu|2536/3078|1794/2163|598/720||,A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000411842|protein_coding|2/5|c.66G>A|p.Leu22Leu|267/983|66/420|22/139||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.2475G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.2475G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.2475G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.2475G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.2475G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.2475G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.2475G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.2475G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.2475G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.2475G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.2475G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.2475G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.2475G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.2475G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.2475G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_4|ENST00000248933|protein_coding|12/17|c.2475G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_4|ENST00000248933|protein_coding|13/17|c.2475G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000248933|protein_coding|12/17|c.2475G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_4|ENST00000404234|protein_coding|12/17|c.2475G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_4|ENST00000404234|protein_coding|13/17|c.2475G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000404234|protein_coding|12/17|c.2475G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_4|ENST00000529632|protein_coding|12/16|c.2475G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_4|ENST00000529632|protein_coding|13/16|c.2475G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000529632|protein_coding|12/16|c.2475G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000343706|protein_coding|12/15|c.2475G>A||||||,A|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|11/14|c.2407+3206G>A||||||,A|non_coding_exon_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000483291|retained_intron|2/2|n.193G>A|||||| 22 26747216 . C A . . ANN=A|splice_region_variant&intron_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|12/16|c.2599+7C>A||||||,A|splice_region_variant&intron_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|12/16|c.2599+7C>A||||||,A|splice_region_variant&intron_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|12/15|c.2599+7C>A||||||,A|splice_region_variant&intron_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|12/14|c.2599+7C>A||||||,A|splice_region_variant&intron_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|11/15|c.1918+7C>A||||||,A|splice_region_variant&intron_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|11/13|c.1918+7C>A||||||,A|splice_region_variant&intron_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000411842|protein_coding|2/4|c.190+7C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.2599+7C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.2599+7C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.2599+7C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.2599+7C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.2599+7C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.2599+7C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.2599+7C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.2599+7C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.2599+7C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.2599+7C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.2599+7C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.2599+7C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.2599+7C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.2599+7C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.2599+7C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_4|ENST00000248933|protein_coding|12/17|c.2599+7C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_4|ENST00000248933|protein_coding|13/17|c.2599+7C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_4|ENST00000404234|protein_coding|12/17|c.2599+7C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_4|ENST00000404234|protein_coding|13/17|c.2599+7C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_4|ENST00000529632|protein_coding|12/16|c.2599+7C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_4|ENST00000529632|protein_coding|13/16|c.2599+7C>A||||||,A|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|11/14|c.2407+3337C>A||||||,A|non_coding_exon_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000483291|retained_intron|2/2|n.324C>A|||||| 22 26747241 . T C . . ANN=C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.2599+32T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.2599+32T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.2599+32T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.2599+32T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.2599+32T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.2599+32T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.2599+32T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.2599+32T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.2599+32T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.2599+32T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.2599+32T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.2599+32T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.2599+32T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.2599+32T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.2599+32T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_4|ENST00000248933|protein_coding|12/17|c.2599+32T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_4|ENST00000248933|protein_coding|13/17|c.2599+32T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_4|ENST00000404234|protein_coding|12/17|c.2599+32T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_4|ENST00000404234|protein_coding|13/17|c.2599+32T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_4|ENST00000529632|protein_coding|12/16|c.2599+32T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_4|ENST00000529632|protein_coding|13/16|c.2599+32T>C||||||,C|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|12/16|c.2599+32T>C||||||,C|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|12/16|c.2599+32T>C||||||,C|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|12/15|c.2599+32T>C||||||,C|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|11/14|c.2407+3362T>C||||||,C|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|12/14|c.2599+32T>C||||||,C|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|11/15|c.1918+32T>C||||||,C|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|11/13|c.1918+32T>C||||||,C|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000411842|protein_coding|2/4|c.190+32T>C||||||,C|non_coding_exon_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000483291|retained_intron|2/2|n.349T>C|||||| 22 26761396 . G C . . ANN=C|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|13/17|c.2658G>C|p.Leu886Leu|2753/3248|2658/3075|886/1024||,C|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|13/17|c.2658G>C|p.Leu886Leu|2854/3444|2658/3072|886/1023||,C|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|13/16|c.2658G>C|p.Leu886Leu|2854/6532|2658/3042|886/1013||,C|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|12/15|c.2466G>C|p.Leu822Leu|2622/6307|2466/2850|822/949||,C|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|12/16|c.1977G>C|p.Leu659Leu|2719/3306|1977/2391|659/796||,C|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000411842|protein_coding|3/5|c.249G>C|p.Leu83Leu|450/983|249/420|83/139||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.2658G>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.2658G>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.2658G>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.2658G>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.2658G>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.2658G>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.2658G>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.2658G>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.2658G>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.2658G>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.2658G>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.2658G>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.2658G>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.2658G>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.2658G>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_5|ENST00000248933|protein_coding|13/17|c.2658G>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_5|ENST00000248933|protein_coding|14/17|c.2658G>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000248933|protein_coding|13/17|c.2658G>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_5|ENST00000404234|protein_coding|13/17|c.2658G>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_5|ENST00000404234|protein_coding|14/17|c.2658G>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000404234|protein_coding|13/17|c.2658G>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_5|ENST00000529632|protein_coding|13/16|c.2658G>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_5|ENST00000529632|protein_coding|14/16|c.2658G>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000529632|protein_coding|13/16|c.2658G>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_5|ENST00000360929|protein_coding|12/15|c.2466G>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_5|ENST00000360929|protein_coding|13/15|c.2466G>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000360929|protein_coding|12/15|c.2466G>C||||||,C|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|12/14|c.2600-10145G>C||||||,C|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|11/13|c.1919-10148G>C||||||,C|non_coding_exon_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000494013|processed_transcript|2/4|n.267G>C|||||| 22 26761444 . C T . . ANN=T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|13/17|c.2706C>T|p.Tyr902Tyr|2801/3248|2706/3075|902/1024||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|13/17|c.2706C>T|p.Tyr902Tyr|2902/3444|2706/3072|902/1023||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|13/16|c.2706C>T|p.Tyr902Tyr|2902/6532|2706/3042|902/1013||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|12/15|c.2514C>T|p.Tyr838Tyr|2670/6307|2514/2850|838/949||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|12/16|c.2025C>T|p.Tyr675Tyr|2767/3306|2025/2391|675/796||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000411842|protein_coding|3/5|c.297C>T|p.Tyr99Tyr|498/983|297/420|99/139||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.2706C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.2706C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.2706C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.2706C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.2706C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.2706C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.2706C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.2706C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.2706C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.2706C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.2706C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.2706C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.2706C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.2706C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.2706C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_5|ENST00000248933|protein_coding|13/17|c.2706C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_5|ENST00000248933|protein_coding|14/17|c.2706C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000248933|protein_coding|13/17|c.2706C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_5|ENST00000404234|protein_coding|13/17|c.2706C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_5|ENST00000404234|protein_coding|14/17|c.2706C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000404234|protein_coding|13/17|c.2706C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_5|ENST00000529632|protein_coding|13/16|c.2706C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_5|ENST00000529632|protein_coding|14/16|c.2706C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000529632|protein_coding|13/16|c.2706C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_5|ENST00000360929|protein_coding|12/15|c.2514C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_5|ENST00000360929|protein_coding|13/15|c.2514C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000360929|protein_coding|12/15|c.2514C>T||||||,T|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|12/14|c.2600-10097C>T||||||,T|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|11/13|c.1919-10100C>T||||||,T|non_coding_exon_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000494013|processed_transcript|2/4|n.315C>T|||||| 22 26761474 . C T . . ANN=T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|13/17|c.2736C>T|p.Thr912Thr|2831/3248|2736/3075|912/1024||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|13/17|c.2736C>T|p.Thr912Thr|2932/3444|2736/3072|912/1023||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|13/16|c.2736C>T|p.Thr912Thr|2932/6532|2736/3042|912/1013||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|12/15|c.2544C>T|p.Thr848Thr|2700/6307|2544/2850|848/949||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|12/16|c.2055C>T|p.Thr685Thr|2797/3306|2055/2391|685/796||,T|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000411842|protein_coding|3/5|c.327C>T|p.Thr109Thr|528/983|327/420|109/139||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.2736C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.2736C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.2736C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.2736C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.2736C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.2736C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.2736C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.2736C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.2736C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.2736C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.2736C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.2736C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.2736C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.2736C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.2736C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_5|ENST00000248933|protein_coding|13/17|c.2736C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_5|ENST00000248933|protein_coding|14/17|c.2736C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000248933|protein_coding|13/17|c.2736C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_5|ENST00000404234|protein_coding|13/17|c.2736C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_5|ENST00000404234|protein_coding|14/17|c.2736C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000404234|protein_coding|13/17|c.2736C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_5|ENST00000529632|protein_coding|13/16|c.2736C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_5|ENST00000529632|protein_coding|14/16|c.2736C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000529632|protein_coding|13/16|c.2736C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_5|ENST00000360929|protein_coding|12/15|c.2544C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_5|ENST00000360929|protein_coding|13/15|c.2544C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000360929|protein_coding|12/15|c.2544C>T||||||,T|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|12/14|c.2600-10067C>T||||||,T|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|11/13|c.1919-10070C>T||||||,T|non_coding_exon_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000494013|processed_transcript|2/4|n.345C>T|||||| 22 26761572 . G T . . ANN=T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.2794+40G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.2794+40G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.2794+40G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.2794+40G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.2794+40G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.2794+40G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.2794+40G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.2794+40G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.2794+40G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.2794+40G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.2794+40G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.2794+40G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.2794+40G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.2794+40G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.2794+40G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_5|ENST00000248933|protein_coding|13/17|c.2794+40G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_5|ENST00000248933|protein_coding|14/17|c.2794+40G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_5|ENST00000404234|protein_coding|13/17|c.2794+40G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_5|ENST00000404234|protein_coding|14/17|c.2794+40G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_5|ENST00000529632|protein_coding|13/16|c.2794+40G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_5|ENST00000529632|protein_coding|14/16|c.2794+40G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_5|ENST00000360929|protein_coding|12/15|c.2602+40G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_5|ENST00000360929|protein_coding|13/15|c.2602+40G>T||||||,T|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|13/16|c.2794+40G>T||||||,T|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|13/16|c.2794+40G>T||||||,T|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|13/15|c.2794+40G>T||||||,T|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|12/14|c.2602+40G>T||||||,T|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|12/14|c.2600-9969G>T||||||,T|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|12/15|c.2113+40G>T||||||,T|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|11/13|c.1919-9972G>T||||||,T|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000411842|protein_coding|3/4|c.385+40G>T||||||,T|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000494013|processed_transcript|2/3|n.403+40G>T|||||| 22 26769463 . CG C . . ANN=|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.2827+15delG||||||,|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.2827+15delG||||||,|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.2827+15delG||||||,|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.2827+15delG||||||,|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.2827+15delG||||||,|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.2827+15delG||||||,|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.2827+15delG||||||,|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.2827+15delG||||||,|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.2827+15delG||||||,|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.2827+15delG||||||,|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.2827+15delG||||||,|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.2827+15delG||||||,|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.2827+15delG||||||,|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.2827+15delG||||||,|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.2827+15delG||||||,|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_5|ENST00000529632|protein_coding|13/16|c.2795-2077delG||||||,|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_5|ENST00000529632|protein_coding|14/16|c.2795-2077delG||||||,|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_5|ENST00000360929|protein_coding|12/15|c.2603-2077delG||||||,|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_5|ENST00000360929|protein_coding|13/15|c.2603-2077delG||||||,|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|14/16|c.2827+15delG||||||,|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|14/16|c.2827+15delG||||||,|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|13/15|c.2795-2077delG||||||,|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|12/14|c.2603-2077delG||||||,|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|12/14|c.2600-2077delG||||||,|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|13/15|c.2146+15delG||||||,|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|11/13|c.1919-2080delG||||||,|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000411842|protein_coding|3/4|c.386-4175delG||||||,|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000494013|processed_transcript|2/3|n.404-2080delG|||||| 22 26771504 . C G . . ANN=G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.2828-37C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.2828-37C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.2828-37C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.2828-37C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.2828-37C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.2828-37C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.2828-37C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.2828-37C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.2828-37C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.2828-37C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.2828-37C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.2828-37C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.2828-37C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.2828-37C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.2828-37C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_5|ENST00000529632|protein_coding|13/16|c.2795-37C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_5|ENST00000529632|protein_coding|14/16|c.2795-37C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_5|ENST00000360929|protein_coding|12/15|c.2603-37C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_5|ENST00000360929|protein_coding|13/15|c.2603-37C>G||||||,G|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|14/16|c.2828-37C>G||||||,G|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|14/16|c.2828-40C>G||||||,G|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|13/15|c.2795-37C>G||||||,G|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|12/14|c.2603-37C>G||||||,G|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|12/14|c.2600-37C>G||||||,G|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|13/15|c.2147-40C>G||||||,G|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|11/13|c.1919-40C>G||||||,G|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000411842|protein_coding|3/4|c.386-2135C>G||||||,G|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000494013|processed_transcript|2/3|n.404-40C>G|||||| 22 26771563 . G A . . ANN=A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|15/17|c.2850G>A|p.Thr950Thr|2945/3248|2850/3075|950/1024||,A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|15/17|c.2847G>A|p.Thr949Thr|3043/3444|2847/3072|949/1023||,A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|14/16|c.2817G>A|p.Thr939Thr|3013/6532|2817/3042|939/1013||,A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|13/15|c.2625G>A|p.Thr875Thr|2781/6307|2625/2850|875/949||,A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|13/15|c.2622G>A|p.Thr874Thr|2634/2898|2622/2847|874/948||,A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|14/16|c.2166G>A|p.Thr722Thr|2908/3306|2166/2391|722/796||,A|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|12/14|c.1938G>A|p.Thr646Thr|2680/3078|1938/2163|646/720||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.2850G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.2850G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.2850G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.2850G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.2850G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.2850G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.2850G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.2850G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.2850G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.2850G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.2850G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.2850G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.2850G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.2850G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.2850G>A||||||,A|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000411842|protein_coding|3/4|c.386-2076G>A||||||,A|non_coding_exon_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000494013|processed_transcript|3/4|n.423G>A|||||| 22 26771580 . A G . . ANN=G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|15/17|c.2867A>G|p.Asn956Ser|2962/3248|2867/3075|956/1024||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|15/17|c.2864A>G|p.Asn955Ser|3060/3444|2864/3072|955/1023||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|14/16|c.2834A>G|p.Asn945Ser|3030/6532|2834/3042|945/1013||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|13/15|c.2642A>G|p.Asn881Ser|2798/6307|2642/2850|881/949||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|13/15|c.2639A>G|p.Asn880Ser|2651/2898|2639/2847|880/948||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|14/16|c.2183A>G|p.Asn728Ser|2925/3306|2183/2391|728/796||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|12/14|c.1955A>G|p.Asn652Ser|2697/3078|1955/2163|652/720||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.2867A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.2867A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.2867A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.2867A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.2867A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.2867A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.2867A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.2867A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.2867A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.2867A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.2867A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.2867A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.2867A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.2867A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.2867A>G||||||,G|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000411842|protein_coding|3/4|c.386-2059A>G||||||,G|non_coding_exon_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000494013|processed_transcript|3/4|n.440A>G|||||| 22 26771672 . G A . . ANN=A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000248933|protein_coding|16/17|c.2942+17G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000248933|protein_coding|17/17|c.2942+17G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000248933|protein_coding|15/17|c.2942+17G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000404234|protein_coding|15/17|c.2939+17G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000404234|protein_coding|16/17|c.2939+17G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000404234|protein_coding|17/17|c.2939+17G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000529632|protein_coding|15/16|c.2909+17G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000529632|protein_coding|14/16|c.2909+17G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000529632|protein_coding|16/16|c.2909+17G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000360929|protein_coding|14/15|c.2717+17G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000360929|protein_coding|15/15|c.2717+17G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000360929|protein_coding|13/15|c.2717+17G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000343706|protein_coding|15/15|c.2714+17G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000343706|protein_coding|14/15|c.2714+17G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000343706|protein_coding|13/15|c.2714+17G>A||||||,A|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|15/16|c.2942+17G>A||||||,A|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|15/16|c.2939+17G>A||||||,A|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|14/15|c.2909+17G>A||||||,A|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|13/14|c.2717+17G>A||||||,A|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|13/14|c.2714+17G>A||||||,A|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|14/15|c.2258+17G>A||||||,A|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|12/13|c.2030+17G>A||||||,A|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000411842|protein_coding|3/4|c.386-1967G>A||||||,A|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000494013|processed_transcript|3/3|n.515+17G>A|||||| 22 26771682 . G A . . ANN=A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000248933|protein_coding|16/17|c.2942+27G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000248933|protein_coding|17/17|c.2942+27G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000248933|protein_coding|15/17|c.2942+27G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000404234|protein_coding|15/17|c.2939+27G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000404234|protein_coding|16/17|c.2939+27G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000404234|protein_coding|17/17|c.2939+27G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000529632|protein_coding|15/16|c.2909+27G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000529632|protein_coding|14/16|c.2909+27G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000529632|protein_coding|16/16|c.2909+27G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000360929|protein_coding|14/15|c.2717+27G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000360929|protein_coding|15/15|c.2717+27G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000360929|protein_coding|13/15|c.2717+27G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000343706|protein_coding|15/15|c.2714+27G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000343706|protein_coding|14/15|c.2714+27G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000343706|protein_coding|13/15|c.2714+27G>A||||||,A|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|15/16|c.2942+27G>A||||||,A|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|15/16|c.2939+27G>A||||||,A|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|14/15|c.2909+27G>A||||||,A|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|13/14|c.2717+27G>A||||||,A|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|13/14|c.2714+27G>A||||||,A|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|14/15|c.2258+27G>A||||||,A|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|12/13|c.2030+27G>A||||||,A|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000411842|protein_coding|3/4|c.386-1957G>A||||||,A|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000494013|processed_transcript|3/3|n.515+27G>A|||||| 22 26773724 . C G . . ANN=G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|16/17|c.3028C>G|p.Pro1010Ala|3123/3248|3028/3075|1010/1024||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|16/17|c.3025C>G|p.Pro1009Ala|3221/3444|3025/3072|1009/1023||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|15/16|c.2995C>G|p.Pro999Ala|3191/6532|2995/3042|999/1013||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|14/15|c.2803C>G|p.Pro935Ala|2959/6307|2803/2850|935/949||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|14/15|c.2800C>G|p.Pro934Ala|2812/2898|2800/2847|934/948||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|15/16|c.2344C>G|p.Pro782Ala|3086/3306|2344/2391|782/796||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|13/14|c.2116C>G|p.Pro706Ala|2858/3078|2116/2163|706/720||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000248933|protein_coding|16/17|c.3028C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000248933|protein_coding|17/17|c.3028C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000248933|protein_coding|15/17|c.3028C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000404234|protein_coding|15/17|c.3025C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000404234|protein_coding|16/17|c.3025C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000404234|protein_coding|17/17|c.3025C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000529632|protein_coding|15/16|c.2995C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000529632|protein_coding|14/16|c.2995C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000529632|protein_coding|16/16|c.2995C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000360929|protein_coding|14/15|c.2803C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000360929|protein_coding|15/15|c.2803C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000360929|protein_coding|13/15|c.2803C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000343706|protein_coding|15/15|c.2800C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000343706|protein_coding|14/15|c.2800C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000343706|protein_coding|13/15|c.2800C>G||||||,G|3_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000411842|protein_coding|4/5|c.*51C>G|||||51|,G|downstream_gene_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000494013|processed_transcript||n.*563C>G|||||38| 22 26773758 . C A . . ANN=A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000248933|protein_coding|16/17|c.3045+17C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000248933|protein_coding|17/17|c.3045+17C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000248933|protein_coding|15/17|c.3045+17C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000404234|protein_coding|15/17|c.3042+17C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000404234|protein_coding|16/17|c.3042+17C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000404234|protein_coding|17/17|c.3042+17C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000529632|protein_coding|15/16|c.3012+17C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000529632|protein_coding|14/16|c.3012+17C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000529632|protein_coding|16/16|c.3012+17C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000360929|protein_coding|14/15|c.2820+17C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000360929|protein_coding|15/15|c.2820+17C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000360929|protein_coding|13/15|c.2820+17C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000343706|protein_coding|15/15|c.2817+17C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000343706|protein_coding|14/15|c.2817+17C>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000343706|protein_coding|13/15|c.2817+17C>A||||||,A|downstream_gene_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000494013|processed_transcript||n.*563C>A|||||72|,A|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|16/16|c.3045+17C>A||||||,A|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|16/16|c.3042+17C>A||||||,A|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|15/15|c.3012+17C>A||||||,A|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|14/14|c.2820+17C>A||||||,A|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|14/14|c.2817+17C>A||||||,A|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|15/15|c.2361+17C>A||||||,A|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|13/13|c.2133+17C>A||||||,A|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000411842|protein_coding|4/4|c.*68+17C>A|||||| 22 26773759 . G A . . ANN=A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000248933|protein_coding|16/17|c.3045+18G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000248933|protein_coding|17/17|c.3045+18G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000248933|protein_coding|15/17|c.3045+18G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000404234|protein_coding|15/17|c.3042+18G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000404234|protein_coding|16/17|c.3042+18G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000404234|protein_coding|17/17|c.3042+18G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000529632|protein_coding|15/16|c.3012+18G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000529632|protein_coding|14/16|c.3012+18G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000529632|protein_coding|16/16|c.3012+18G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000360929|protein_coding|14/15|c.2820+18G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000360929|protein_coding|15/15|c.2820+18G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000360929|protein_coding|13/15|c.2820+18G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000343706|protein_coding|15/15|c.2817+18G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000343706|protein_coding|14/15|c.2817+18G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000343706|protein_coding|13/15|c.2817+18G>A||||||,A|downstream_gene_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000494013|processed_transcript||n.*563G>A|||||73|,A|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|16/16|c.3045+18G>A||||||,A|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|16/16|c.3042+18G>A||||||,A|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|15/15|c.3012+18G>A||||||,A|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|14/14|c.2820+18G>A||||||,A|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|14/14|c.2817+18G>A||||||,A|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|15/15|c.2361+18G>A||||||,A|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|13/13|c.2133+18G>A||||||,A|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000411842|protein_coding|4/4|c.*68+18G>A|||||| 22 26776183 . C T . . ANN=T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000248933|protein_coding|16/17|c.3046-49C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000248933|protein_coding|17/17|c.3046-49C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000248933|protein_coding|15/17|c.3046-49C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000404234|protein_coding|15/17|c.3043-49C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000404234|protein_coding|16/17|c.3043-49C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000404234|protein_coding|17/17|c.3043-49C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000529632|protein_coding|15/16|c.3013-49C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000529632|protein_coding|14/16|c.3013-49C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000529632|protein_coding|16/16|c.3013-49C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000360929|protein_coding|14/15|c.2821-49C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000360929|protein_coding|15/15|c.2821-49C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000360929|protein_coding|13/15|c.2821-49C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000343706|protein_coding|15/15|c.2818-49C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000343706|protein_coding|14/15|c.2818-49C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000343706|protein_coding|13/15|c.2818-49C>T||||||,T|downstream_gene_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000494013|processed_transcript||n.*563C>T|||||2497|,T|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|16/16|c.3046-49C>T||||||,T|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|16/16|c.3043-49C>T||||||,T|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|15/15|c.3013-49C>T||||||,T|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|14/14|c.2821-49C>T||||||,T|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|14/14|c.2818-49C>T||||||,T|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|15/15|c.2362-49C>T||||||,T|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|13/13|c.2134-49C>T||||||,T|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000411842|protein_coding|4/4|c.*69-49C>T|||||| 22 26776221 . C G . . ANN=G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000248933|protein_coding|16/17|c.3046-11C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000248933|protein_coding|17/17|c.3046-11C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000248933|protein_coding|15/17|c.3046-11C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000404234|protein_coding|15/17|c.3043-11C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000404234|protein_coding|16/17|c.3043-11C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000404234|protein_coding|17/17|c.3043-11C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000529632|protein_coding|15/16|c.3013-11C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000529632|protein_coding|14/16|c.3013-11C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000529632|protein_coding|16/16|c.3013-11C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000360929|protein_coding|14/15|c.2821-11C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000360929|protein_coding|15/15|c.2821-11C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000360929|protein_coding|13/15|c.2821-11C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000343706|protein_coding|15/15|c.2818-11C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000343706|protein_coding|14/15|c.2818-11C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000343706|protein_coding|13/15|c.2818-11C>G||||||,G|downstream_gene_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000494013|processed_transcript||n.*563C>G|||||2535|,G|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|16/16|c.3046-11C>G||||||,G|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|16/16|c.3043-11C>G||||||,G|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|15/15|c.3013-11C>G||||||,G|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|14/14|c.2821-11C>G||||||,G|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|14/14|c.2818-11C>G||||||,G|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|15/15|c.2362-11C>G||||||,G|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|13/13|c.2134-11C>G||||||,G|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000411842|protein_coding|4/4|c.*69-11C>G|||||| 22 26776228 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|16/16|c.3046-4G>A||||||,A|splice_region_variant&intron_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|16/16|c.3043-4G>A||||||,A|splice_region_variant&intron_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|15/15|c.3013-4G>A||||||,A|splice_region_variant&intron_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|14/14|c.2821-4G>A||||||,A|splice_region_variant&intron_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|14/14|c.2818-4G>A||||||,A|splice_region_variant&intron_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|15/15|c.2362-4G>A||||||,A|splice_region_variant&intron_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|13/13|c.2134-4G>A||||||,A|splice_region_variant&intron_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000411842|protein_coding|4/4|c.*69-4G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000248933|protein_coding|16/17|c.3046-4G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000248933|protein_coding|17/17|c.3046-4G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000248933|protein_coding|15/17|c.3046-4G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000404234|protein_coding|15/17|c.3043-4G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000404234|protein_coding|16/17|c.3043-4G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000404234|protein_coding|17/17|c.3043-4G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000529632|protein_coding|15/16|c.3013-4G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000529632|protein_coding|14/16|c.3013-4G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000529632|protein_coding|16/16|c.3013-4G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000360929|protein_coding|14/15|c.2821-4G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000360929|protein_coding|15/15|c.2821-4G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000360929|protein_coding|13/15|c.2821-4G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000343706|protein_coding|15/15|c.2818-4G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000343706|protein_coding|14/15|c.2818-4G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000343706|protein_coding|13/15|c.2818-4G>A||||||,A|downstream_gene_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000494013|processed_transcript||n.*563G>A|||||2542| 22 26776246 . T C . . ANN=C|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|17/17|c.3060T>C|p.Tyr1020Tyr|3155/3248|3060/3075|1020/1024||,C|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|17/17|c.3057T>C|p.Tyr1019Tyr|3253/3444|3057/3072|1019/1023||,C|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|16/16|c.3027T>C|p.Tyr1009Tyr|3223/6532|3027/3042|1009/1013||,C|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|15/15|c.2835T>C|p.Tyr945Tyr|2991/6307|2835/2850|945/949||,C|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|15/15|c.2832T>C|p.Tyr944Tyr|2844/2898|2832/2847|944/948||,C|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|16/16|c.2376T>C|p.Tyr792Tyr|3118/3306|2376/2391|792/796||,C|synonymous_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|14/14|c.2148T>C|p.Tyr716Tyr|2890/3078|2148/2163|716/720||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000248933|protein_coding|16/17|c.3060T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000248933|protein_coding|17/17|c.3060T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000248933|protein_coding|15/17|c.3060T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000404234|protein_coding|15/17|c.3057T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000404234|protein_coding|16/17|c.3057T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000404234|protein_coding|17/17|c.3057T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000529632|protein_coding|15/16|c.3027T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000529632|protein_coding|14/16|c.3027T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000529632|protein_coding|16/16|c.3027T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000360929|protein_coding|14/15|c.2835T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000360929|protein_coding|15/15|c.2835T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000360929|protein_coding|13/15|c.2835T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000343706|protein_coding|15/15|c.2832T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000343706|protein_coding|14/15|c.2832T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000343706|protein_coding|13/15|c.2832T>C||||||,C|3_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000411842|protein_coding|5/5|c.*83T>C|||||2573|,C|downstream_gene_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000494013|processed_transcript||n.*563T>C|||||2560| 22 26776311 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|17/17|c.*50C>T|||||50|,T|3_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|17/17|c.*50C>T|||||50|,T|3_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|16/16|c.*50C>T|||||50|,T|3_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|15/15|c.*50C>T|||||50|,T|3_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|16/16|c.*50C>T|||||50|,T|3_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|14/14|c.*50C>T|||||50|,T|3_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000411842|protein_coding|5/5|c.*148C>T|||||2638|,T|downstream_gene_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding||c.*2859C>T|||||11|,T|downstream_gene_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000494013|processed_transcript||n.*563C>T|||||2625| 22 26829914 . T C . . ANN=C|synonymous_variant|LOW|ASPHD2|ENSG00000128203|transcript|ENST00000215906|protein_coding|2/4|c.333T>C|p.Pro111Pro|771/3357|333/1110|111/369||,C|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|3/4|c.333T>C||||||,C|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|4/4|c.333T>C||||||,C|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|2/4|c.333T>C|||||| 22 26829954 . A G . . ANN=G|missense_variant|MODERATE|ASPHD2|ENSG00000128203|transcript|ENST00000215906|protein_coding|2/4|c.373A>G|p.Lys125Glu|811/3357|373/1110|125/369||,G|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|3/4|c.373A>G||||||,G|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|4/4|c.373A>G||||||,G|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|2/4|c.373A>G|||||| 22 26829980 . C T . . ANN=T|synonymous_variant|LOW|ASPHD2|ENSG00000128203|transcript|ENST00000215906|protein_coding|2/4|c.399C>T|p.Tyr133Tyr|837/3357|399/1110|133/369||,T|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|3/4|c.399C>T||||||,T|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|4/4|c.399C>T||||||,T|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|2/4|c.399C>T|||||| 22 26830094 . C T . . ANN=T|synonymous_variant|LOW|ASPHD2|ENSG00000128203|transcript|ENST00000215906|protein_coding|2/4|c.513C>T|p.Pro171Pro|951/3357|513/1110|171/369||,T|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|3/4|c.513C>T||||||,T|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|4/4|c.513C>T||||||,T|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|2/4|c.513C>T|||||| 22 26830148 . A C . . ANN=C|missense_variant|MODERATE|ASPHD2|ENSG00000128203|transcript|ENST00000215906|protein_coding|2/4|c.567A>C|p.Glu189Asp|1005/3357|567/1110|189/369||,C|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|3/4|c.567A>C||||||,C|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|4/4|c.567A>C||||||,C|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|2/4|c.567A>C|||||| 22 26830256 . C T . . ANN=T|synonymous_variant|LOW|ASPHD2|ENSG00000128203|transcript|ENST00000215906|protein_coding|2/4|c.675C>T|p.Ser225Ser|1113/3357|675/1110|225/369||,T|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|3/4|c.675C>T||||||,T|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|4/4|c.675C>T||||||,T|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|2/4|c.675C>T|||||| 22 26830285 . A G . . ANN=G|missense_variant|MODERATE|ASPHD2|ENSG00000128203|transcript|ENST00000215906|protein_coding|2/4|c.704A>G|p.Asn235Ser|1142/3357|704/1110|235/369||,G|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|3/4|c.704A>G||||||,G|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|4/4|c.704A>G||||||,G|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|2/4|c.704A>G|||||| 22 26830316 . G A . . ANN=A|synonymous_variant|LOW|ASPHD2|ENSG00000128203|transcript|ENST00000215906|protein_coding|2/4|c.735G>A|p.Arg245Arg|1173/3357|735/1110|245/369||,A|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|3/4|c.735G>A||||||,A|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|4/4|c.735G>A||||||,A|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|2/4|c.735G>A|||||| 22 26830388 . G A . . ANN=A|synonymous_variant|LOW|ASPHD2|ENSG00000128203|transcript|ENST00000215906|protein_coding|2/4|c.807G>A|p.Ala269Ala|1245/3357|807/1110|269/369||,A|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|3/4|c.807G>A||||||,A|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|4/4|c.807G>A||||||,A|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|2/4|c.807G>A|||||| 22 26830413 . A T . . ANN=T|missense_variant|MODERATE|ASPHD2|ENSG00000128203|transcript|ENST00000215906|protein_coding|2/4|c.832A>T|p.Thr278Ser|1270/3357|832/1110|278/369||,T|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|3/4|c.832A>T||||||,T|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|4/4|c.832A>T||||||,T|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|2/4|c.832A>T|||||| 22 26830478 . A G . . ANN=G|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|3/4|c.886+11A>G||||||,G|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|4/4|c.886+11A>G||||||,G|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|2/4|c.886+11A>G||||||,G|intron_variant|MODIFIER|ASPHD2|ENSG00000128203|transcript|ENST00000215906|protein_coding|2/3|c.886+11A>G|||||| 22 26830495 . G A . . ANN=A|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|3/4|c.886+28G>A||||||,A|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|4/4|c.886+28G>A||||||,A|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|2/4|c.886+28G>A||||||,A|intron_variant|MODIFIER|ASPHD2|ENSG00000128203|transcript|ENST00000215906|protein_coding|2/3|c.886+28G>A|||||| 22 26838430 . A C . . ANN=C|missense_variant|MODERATE|ASPHD2|ENSG00000128203|transcript|ENST00000215906|protein_coding|3/4|c.892A>C|p.Lys298Gln|1330/3357|892/1110|298/369||,C|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|3/4|c.892A>C||||||,C|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|4/4|c.892A>C||||||,C|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|2/4|c.892A>C||||||,C|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript||n.*471T>G|||||959|,C|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript||n.*986T>G|||||1763| 22 26838459 . G T . . ANN=T|synonymous_variant|LOW|ASPHD2|ENSG00000128203|transcript|ENST00000215906|protein_coding|3/4|c.921G>T|p.Val307Val|1359/3357|921/1110|307/369||,T|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|3/4|c.921G>T||||||,T|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|4/4|c.921G>T||||||,T|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|2/4|c.921G>T||||||,T|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript||n.*471C>A|||||930|,T|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript||n.*986C>A|||||1734| 22 26839055 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|ASPHD2|ENSG00000128203|transcript|ENST00000215906|protein_coding|3/3|c.1001-8C>T||||||,T|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|3/4|c.1001-8C>T||||||,T|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|4/4|c.1001-8C>T||||||,T|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|2/4|c.1001-8C>T||||||,T|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript||n.*471G>A|||||334|,T|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript||n.*986G>A|||||1138| 22 26839058 . C G . . ANN=G|splice_region_variant&intron_variant|LOW|ASPHD2|ENSG00000128203|transcript|ENST00000215906|protein_coding|3/3|c.1001-5C>G||||||,G|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|3/4|c.1001-5C>G||||||,G|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|4/4|c.1001-5C>G||||||,G|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|2/4|c.1001-5C>G||||||,G|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript||n.*471G>C|||||331|,G|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript||n.*986G>C|||||1135| 22 26839059 . C A . . ANN=A|splice_region_variant&intron_variant|LOW|ASPHD2|ENSG00000128203|transcript|ENST00000215906|protein_coding|3/3|c.1001-4C>A||||||,A|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|3/4|c.1001-4C>A||||||,A|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|4/4|c.1001-4C>A||||||,A|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|2/4|c.1001-4C>A||||||,A|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript||n.*471G>T|||||330|,A|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript||n.*986G>T|||||1134| 22 26839081 . C T . . ANN=T|missense_variant|MODERATE|ASPHD2|ENSG00000128203|transcript|ENST00000215906|protein_coding|4/4|c.1019C>T|p.Pro340Leu|1457/3357|1019/1110|340/369||,T|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|3/4|c.1019C>T||||||,T|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|4/4|c.1019C>T||||||,T|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|2/4|c.1019C>T||||||,T|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript||n.*471G>A|||||308|,T|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript||n.*986G>A|||||1112| 22 26839084 . G A . . ANN=A|missense_variant|MODERATE|ASPHD2|ENSG00000128203|transcript|ENST00000215906|protein_coding|4/4|c.1022G>A|p.Arg341Gln|1460/3357|1022/1110|341/369||,A|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|3/4|c.1022G>A||||||,A|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|4/4|c.1022G>A||||||,A|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|2/4|c.1022G>A||||||,A|sequence_feature|LOW|ASPHD2|ENSG00000128203|binding_site:2-oxoglutarate|ENST00000215906|protein_coding|4/4|c.1022G>A||||||,A|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript||n.*471C>T|||||305|,A|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript||n.*986C>T|||||1109| 22 26839103 . T C . . ANN=C|synonymous_variant|LOW|ASPHD2|ENSG00000128203|transcript|ENST00000215906|protein_coding|4/4|c.1041T>C|p.Asp347Asp|1479/3357|1041/1110|347/369||,C|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|3/4|c.1041T>C||||||,C|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|4/4|c.1041T>C||||||,C|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|2/4|c.1041T>C||||||,C|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript||n.*471A>G|||||286|,C|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript||n.*986A>G|||||1090| 22 26839187 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|ASPHD2|ENSG00000128203|transcript|ENST00000215906|protein_coding|4/4|c.*15C>T|||||15|,T|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript||n.*471G>A|||||202|,T|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript||n.*986G>A|||||1006| 22 26839213 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|ASPHD2|ENSG00000128203|transcript|ENST00000215906|protein_coding|4/4|c.*41G>A|||||41|,A|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript||n.*471C>T|||||176|,A|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript||n.*986C>T|||||980| 22 26849285 . C T . . ANN=T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|13/13|c.2080G>A|p.Gly694Ser|2080/3919|2080/2166|694/721||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|14/14|c.2041G>A|p.Gly681Ser|2658/4497|2041/2127|681/708||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|12/12|c.2026G>A|p.Gly676Ser|2326/3562|2026/2112|676/703||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|14/14|c.2041G>A|p.Gly681Ser|2550/3786|2041/2127|681/708||,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|13/13|n.*1613G>A|||||17514|,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|12/12|n.*2372G>A|||||18052|,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|14/14|n.*1559G>A|||||17514|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000491142|processed_transcript||n.-1G>A|||||427|,T|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron||n.*973G>A|||||327|,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript|3/3|n.341+4540G>A||||||,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript|3/3|n.518+4540G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|13/13|n.*1613G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|12/12|n.*2372G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|14/14|n.*1559G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|13/13|n.4900G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|9/9|n.2565G>A|||||| 22 26849364 . G A . . ANN=A|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|13/13|c.2001C>T|p.Ala667Ala|2001/3919|2001/2166|667/721||,A|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|14/14|c.1962C>T|p.Ala654Ala|2579/4497|1962/2127|654/708||,A|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|12/12|c.1947C>T|p.Ala649Ala|2247/3562|1947/2112|649/703||,A|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|14/14|c.1962C>T|p.Ala654Ala|2471/3786|1962/2127|654/708||,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|13/13|n.*1534C>T|||||17435|,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|12/12|n.*2293C>T|||||17973|,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|14/14|n.*1480C>T|||||17435|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000491142|processed_transcript||n.-1C>T|||||506|,A|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron||n.*973C>T|||||248|,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript|3/3|n.341+4461C>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript|3/3|n.518+4461C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|13/13|n.*1534C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|12/12|n.*2293C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|14/14|n.*1480C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|13/13|n.4821C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|9/9|n.2486C>T|||||| 22 26849395 . C T . . ANN=T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000491142|processed_transcript||n.-1G>A|||||537|,T|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron||n.*973G>A|||||217|,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|12/12|c.1995-25G>A||||||,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript|3/3|n.341+4430G>A||||||,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript|3/3|n.518+4430G>A||||||,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|13/13|c.1956-25G>A||||||,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|12/12|n.*1528-25G>A||||||,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|11/11|n.*2287-25G>A||||||,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|11/11|c.1941-25G>A||||||,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|13/13|c.1956-25G>A||||||,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|13/13|n.*1474-25G>A||||||,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|12/12|n.4815-25G>A||||||,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|8/8|n.2480-25G>A|||||| 22 26849402 . A G . . ANN=G|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000491142|processed_transcript||n.-1T>C|||||544|,G|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron||n.*973T>C|||||210|,G|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|12/12|c.1995-32T>C||||||,G|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript|3/3|n.341+4423T>C||||||,G|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript|3/3|n.518+4423T>C||||||,G|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|13/13|c.1956-32T>C||||||,G|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|12/12|n.*1528-32T>C||||||,G|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|11/11|n.*2287-32T>C||||||,G|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|11/11|c.1941-32T>C||||||,G|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|13/13|c.1956-32T>C||||||,G|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|13/13|n.*1474-32T>C||||||,G|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|12/12|n.4815-32T>C||||||,G|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|8/8|n.2480-32T>C|||||| 22 26853787 . G A . . ANN=A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000491142|processed_transcript||n.-1C>T|||||4929|,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|12/12|c.1994+38C>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript|3/3|n.341+38C>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript|3/3|n.518+38C>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|13/13|c.1955+38C>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|12/12|n.*1527+38C>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|11/11|n.*2286+38C>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|11/11|c.1940+38C>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|13/13|c.1955+38C>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|13/13|n.*1473+38C>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|12/12|n.4814+38C>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|8/8|n.2480-4417C>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|6/6|n.646+38C>T|||||| 22 26853798 . G A . . ANN=A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000491142|processed_transcript||n.-1C>T|||||4940|,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|12/12|c.1994+27C>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript|3/3|n.341+27C>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript|3/3|n.518+27C>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|13/13|c.1955+27C>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|12/12|n.*1527+27C>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|11/11|n.*2286+27C>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|11/11|c.1940+27C>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|13/13|c.1955+27C>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|13/13|n.*1473+27C>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|12/12|n.4814+27C>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|8/8|n.2480-4428C>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|6/6|n.646+27C>T|||||| 22 26853807 . C T . . ANN=T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000491142|processed_transcript||n.-1G>A|||||4949|,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|12/12|c.1994+18G>A||||||,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript|3/3|n.341+18G>A||||||,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript|3/3|n.518+18G>A||||||,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|13/13|c.1955+18G>A||||||,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|12/12|n.*1527+18G>A||||||,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|11/11|n.*2286+18G>A||||||,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|11/11|c.1940+18G>A||||||,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|13/13|c.1955+18G>A||||||,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|13/13|n.*1473+18G>A||||||,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|12/12|n.4814+18G>A||||||,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|8/8|n.2480-4437G>A||||||,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|6/6|n.646+18G>A|||||| 22 26853833 . C T . . ANN=T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|12/13|c.1986G>A|p.Met662Ile|1986/3919|1986/2166|662/721||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|13/14|c.1947G>A|p.Met649Ile|2564/4497|1947/2127|649/708||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|11/12|c.1932G>A|p.Met644Ile|2232/3562|1932/2112|644/703||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|13/14|c.1947G>A|p.Met649Ile|2456/3786|1947/2127|649/708||,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|12/13|n.*1519G>A|||||12966|,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|11/12|n.*2278G>A|||||13504|,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|13/14|n.*1465G>A|||||12966|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000491142|processed_transcript||n.-1G>A|||||4975|,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|8/8|n.2480-4463G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript|3/4|n.333G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript|3/4|n.510G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|12/13|n.*1519G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|11/12|n.*2278G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|13/14|n.*1465G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|12/13|n.4806G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|6/7|n.638G>A|||||| 22 26853881 . G A . . ANN=A|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|12/13|c.1938C>T|p.Val646Val|1938/3919|1938/2166|646/721||,A|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|13/14|c.1899C>T|p.Val633Val|2516/4497|1899/2127|633/708||,A|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|11/12|c.1884C>T|p.Val628Val|2184/3562|1884/2112|628/703||,A|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|13/14|c.1899C>T|p.Val633Val|2408/3786|1899/2127|633/708||,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|12/13|n.*1471C>T|||||12918|,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|11/12|n.*2230C>T|||||13456|,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|13/14|n.*1417C>T|||||12918|,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|8/8|n.2480-4511C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript|3/4|n.285C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript|3/4|n.462C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|12/13|n.*1471C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|11/12|n.*2230C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|13/14|n.*1417C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|12/13|n.4758C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|6/7|n.590C>T|||||| 22 26853883 . C G . . ANN=G|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|12/13|c.1936G>C|p.Val646Leu|1936/3919|1936/2166|646/721||,G|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|13/14|c.1897G>C|p.Val633Leu|2514/4497|1897/2127|633/708||,G|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|11/12|c.1882G>C|p.Val628Leu|2182/3562|1882/2112|628/703||,G|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|13/14|c.1897G>C|p.Val633Leu|2406/3786|1897/2127|633/708||,G|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|12/13|n.*1469G>C|||||12916|,G|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|11/12|n.*2228G>C|||||13454|,G|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|13/14|n.*1415G>C|||||12916|,G|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|8/8|n.2480-4513G>C||||||,G|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript|3/4|n.283G>C||||||,G|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript|3/4|n.460G>C||||||,G|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|12/13|n.*1469G>C||||||,G|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|11/12|n.*2228G>C||||||,G|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|13/14|n.*1415G>C||||||,G|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|12/13|n.4756G>C||||||,G|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|6/7|n.588G>C|||||| 22 26853897 . C T . . ANN=T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|12/13|c.1922G>A|p.Arg641His|1922/3919|1922/2166|641/721||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|13/14|c.1883G>A|p.Arg628His|2500/4497|1883/2127|628/708||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|11/12|c.1868G>A|p.Arg623His|2168/3562|1868/2112|623/703||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|13/14|c.1883G>A|p.Arg628His|2392/3786|1883/2127|628/708||,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|12/13|n.*1455G>A|||||12902|,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|11/12|n.*2214G>A|||||13440|,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|13/14|n.*1401G>A|||||12902|,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|8/8|n.2480-4527G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript|3/4|n.269G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript|3/4|n.446G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|12/13|n.*1455G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|11/12|n.*2214G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|13/14|n.*1401G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|12/13|n.4742G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|6/7|n.574G>A|||||| 22 26853905 . C A . . ANN=A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|12/13|c.1914G>T|p.Gln638His|1914/3919|1914/2166|638/721||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|13/14|c.1875G>T|p.Gln625His|2492/4497|1875/2127|625/708||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|11/12|c.1860G>T|p.Gln620His|2160/3562|1860/2112|620/703||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|13/14|c.1875G>T|p.Gln625His|2384/3786|1875/2127|625/708||,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|12/13|n.*1447G>T|||||12894|,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|11/12|n.*2206G>T|||||13432|,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|13/14|n.*1393G>T|||||12894|,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|8/8|n.2480-4535G>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript|3/4|n.261G>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript|3/4|n.438G>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|12/13|n.*1447G>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|11/12|n.*2206G>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|13/14|n.*1393G>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|12/13|n.4734G>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|6/7|n.566G>T|||||| 22 26853966 . A G . . ANN=G|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|11/12|c.1886-33T>C||||||,G|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript|2/3|n.233-33T>C||||||,G|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript|2/3|n.410-33T>C||||||,G|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|12/13|c.1847-33T>C||||||,G|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|11/12|n.*1419-33T>C||||||,G|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|10/11|n.*2178-33T>C||||||,G|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|10/11|c.1832-33T>C||||||,G|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|12/13|c.1847-33T>C||||||,G|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|12/13|n.*1365-33T>C||||||,G|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|11/12|n.4706-33T>C||||||,G|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|8/8|n.2480-4596T>C||||||,G|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|5/6|n.538-33T>C|||||| 22 26853980 . T C . . ANN=C|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|11/12|c.1886-47A>G||||||,C|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript|2/3|n.233-47A>G||||||,C|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript|2/3|n.410-47A>G||||||,C|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|12/13|c.1847-47A>G||||||,C|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|11/12|n.*1419-47A>G||||||,C|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|10/11|n.*2178-47A>G||||||,C|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|10/11|c.1832-47A>G||||||,C|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|12/13|c.1847-47A>G||||||,C|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|12/13|n.*1365-47A>G||||||,C|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|11/12|n.4706-47A>G||||||,C|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|8/8|n.2480-4610A>G||||||,C|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|5/6|n.538-47A>G|||||| 22 26854381 . G A . . ANN=A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|11/12|c.1885+30C>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript|2/3|n.232+30C>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript|2/3|n.409+30C>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|12/13|c.1846+30C>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|11/12|n.*1418+30C>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|10/11|n.*2177+30C>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|10/11|c.1831+30C>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|12/13|c.1846+30C>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|12/13|n.*1364+30C>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|11/12|n.4705+30C>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|8/8|n.2480-5011C>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|5/6|n.537+30C>T|||||| 22 26854441 . G A . . ANN=A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|11/13|c.1855C>T|p.His619Tyr|1855/3919|1855/2166|619/721||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|12/14|c.1816C>T|p.His606Tyr|2433/4497|1816/2127|606/708||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|10/12|c.1801C>T|p.His601Tyr|2101/3562|1801/2112|601/703||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|12/14|c.1816C>T|p.His606Tyr|2325/3786|1816/2127|606/708||,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|11/13|n.*1388C>T|||||12358|,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|10/12|n.*2147C>T|||||12896|,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|12/14|n.*1334C>T|||||12358|,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|8/8|n.2480-5071C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript|2/4|n.202C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript|2/4|n.379C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|11/13|n.*1388C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|10/12|n.*2147C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|12/14|n.*1334C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|11/13|n.4675C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|5/7|n.507C>T|||||| 22 26859896 . G A . . ANN=A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|10/13|c.1739C>T|p.Ala580Val|1739/3919|1739/2166|580/721||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|11/14|c.1700C>T|p.Ala567Val|2317/4497|1700/2127|567/708||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|9/12|c.1685C>T|p.Ala562Val|1985/3562|1685/2112|562/703||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|11/14|c.1700C>T|p.Ala567Val|2209/3786|1700/2127|567/708||,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*1272C>T|||||6903|,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*2031C>T|||||7441|,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*1218C>T|||||6903|,A|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding||c.*1942C>T|||||309|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript||n.*556C>T|||||1591|,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|4/6|n.404+4621C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript|1/4|n.86C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript|1/4|n.263C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*1272C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*2031C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*1218C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|10/13|n.4559C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|8/9|n.2466C>T|||||| 22 26859942 . C T . . ANN=T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|10/13|c.1693G>A|p.Val565Met|1693/3919|1693/2166|565/721||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|11/14|c.1654G>A|p.Val552Met|2271/4497|1654/2127|552/708||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|9/12|c.1639G>A|p.Val547Met|1939/3562|1639/2112|547/703||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|11/14|c.1654G>A|p.Val552Met|2163/3786|1654/2127|552/708||,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*1226G>A|||||6857|,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*1985G>A|||||7395|,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*1172G>A|||||6857|,T|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding||c.*1942G>A|||||263|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript||n.*556G>A|||||1545|,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|4/6|n.404+4575G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript|1/4|n.40G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript|1/4|n.217G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*1226G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*1985G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*1172G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|10/13|n.4513G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|8/9|n.2420G>A|||||| 22 26859956 . C G . . ANN=G|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|10/13|c.1679G>C|p.Cys560Ser|1679/3919|1679/2166|560/721||,G|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|11/14|c.1640G>C|p.Cys547Ser|2257/4497|1640/2127|547/708||,G|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|9/12|c.1625G>C|p.Cys542Ser|1925/3562|1625/2112|542/703||,G|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|11/14|c.1640G>C|p.Cys547Ser|2149/3786|1640/2127|547/708||,G|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*1212G>C|||||6843|,G|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*1971G>C|||||7381|,G|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*1158G>C|||||6843|,G|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding||c.*1942G>C|||||249|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript||n.*556G>C|||||1531|,G|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|4/6|n.404+4561G>C||||||,G|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript|1/4|n.26G>C||||||,G|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript|1/4|n.203G>C||||||,G|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*1212G>C||||||,G|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*1971G>C||||||,G|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*1158G>C||||||,G|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|10/13|n.4499G>C||||||,G|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|8/9|n.2406G>C|||||| 22 26859981 . C A . . ANN=A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|10/13|c.1654G>T|p.Val552Leu|1654/3919|1654/2166|552/721||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|11/14|c.1615G>T|p.Val539Leu|2232/4497|1615/2127|539/708||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|9/12|c.1600G>T|p.Val534Leu|1900/3562|1600/2112|534/703||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|11/14|c.1615G>T|p.Val539Leu|2124/3786|1615/2127|539/708||,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*1187G>T|||||6818|,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*1946G>T|||||7356|,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*1133G>T|||||6818|,A|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding||c.*1942G>T|||||224|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript||n.*556G>T|||||1506|,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|4/6|n.404+4536G>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript|1/4|n.1G>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript|1/4|n.178G>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*1187G>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*1946G>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*1133G>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|10/13|n.4474G>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|8/9|n.2381G>T|||||| 22 26860015 . G A . . ANN=A|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|10/13|c.1620C>T|p.Ser540Ser|1620/3919|1620/2166|540/721||,A|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|11/14|c.1581C>T|p.Ser527Ser|2198/4497|1581/2127|527/708||,A|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|9/12|c.1566C>T|p.Ser522Ser|1866/3562|1566/2112|522/703||,A|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|11/14|c.1581C>T|p.Ser527Ser|2090/3786|1581/2127|527/708||,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*1153C>T|||||6784|,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*1912C>T|||||7322|,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*1099C>T|||||6784|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript||n.-1C>T|||||34|,A|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding||c.*1942C>T|||||190|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript||n.*556C>T|||||1472|,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|4/6|n.404+4502C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript|1/4|n.144C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*1153C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*1912C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*1099C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|10/13|n.4440C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|8/9|n.2347C>T|||||| 22 26860199 . C T . . ANN=T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|10/13|c.1436G>A|p.Arg479His|1436/3919|1436/2166|479/721||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|11/14|c.1397G>A|p.Arg466His|2014/4497|1397/2127|466/708||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|9/12|c.1382G>A|p.Arg461His|1682/3562|1382/2112|461/703||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|11/14|c.1397G>A|p.Arg466His|1906/3786|1397/2127|466/708||,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*969G>A|||||6600|,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*1728G>A|||||7138|,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*915G>A|||||6600|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript||n.-1G>A|||||218|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript||n.-1G>A|||||41|,T|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding||c.*1942G>A|||||6|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript||n.*556G>A|||||1288|,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|4/6|n.404+4318G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*969G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*1728G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*915G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|10/13|n.4256G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|8/9|n.2163G>A|||||| 22 26860236 . G T . . ANN=T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|10/13|c.1399C>A|p.Pro467Thr|1399/3919|1399/2166|467/721||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|11/14|c.1360C>A|p.Pro454Thr|1977/4497|1360/2127|454/708||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|9/12|c.1345C>A|p.Pro449Thr|1645/3562|1345/2112|449/703||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|11/14|c.1360C>A|p.Pro454Thr|1869/3786|1360/2127|454/708||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|12/12|c.1414C>A|p.Pro472Thr|1911/1942|1414/1445|472/480||WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*932C>A|||||6563|,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*1691C>A|||||7101|,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*878C>A|||||6563|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript||n.-1C>A|||||255|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript||n.-1C>A|||||78|,T|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript||n.*556C>A|||||1251|,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|4/6|n.404+4281C>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*932C>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*1691C>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*878C>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|10/13|n.4219C>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|8/9|n.2126C>A|||||| 22 26860269 . G C . . ANN=C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|10/13|c.1366C>G|p.Leu456Val|1366/3919|1366/2166|456/721||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|11/14|c.1327C>G|p.Leu443Val|1944/4497|1327/2127|443/708||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|9/12|c.1312C>G|p.Leu438Val|1612/3562|1312/2112|438/703||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|11/14|c.1327C>G|p.Leu443Val|1836/3786|1327/2127|443/708||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|12/12|c.1381C>G|p.Leu461Val|1878/1942|1381/1445|461/480||WARNING_TRANSCRIPT_INCOMPLETE,C|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*899C>G|||||6530|,C|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*1658C>G|||||7068|,C|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*845C>G|||||6530|,C|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript||n.-1C>G|||||288|,C|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript||n.-1C>G|||||111|,C|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript||n.*556C>G|||||1218|,C|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|4/6|n.404+4248C>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*899C>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*1658C>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*845C>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|10/13|n.4186C>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|8/9|n.2093C>G|||||| 22 26860289 . T C . . ANN=C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|10/13|c.1346A>G|p.Gln449Arg|1346/3919|1346/2166|449/721||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|11/14|c.1307A>G|p.Gln436Arg|1924/4497|1307/2127|436/708||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|9/12|c.1292A>G|p.Gln431Arg|1592/3562|1292/2112|431/703||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|11/14|c.1307A>G|p.Gln436Arg|1816/3786|1307/2127|436/708||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|12/12|c.1361A>G|p.Gln454Arg|1858/1942|1361/1445|454/480||WARNING_TRANSCRIPT_INCOMPLETE,C|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*879A>G|||||6510|,C|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*1638A>G|||||7048|,C|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*825A>G|||||6510|,C|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript||n.-1A>G|||||308|,C|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript||n.-1A>G|||||131|,C|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript||n.*556A>G|||||1198|,C|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|4/6|n.404+4228A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*879A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*1638A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*825A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|10/13|n.4166A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|8/9|n.2073A>G|||||| 22 26860364 . C T . . ANN=T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|10/13|c.1271G>A|p.Ser424Asn|1271/3919|1271/2166|424/721||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|11/14|c.1232G>A|p.Ser411Asn|1849/4497|1232/2127|411/708||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|9/12|c.1217G>A|p.Ser406Asn|1517/3562|1217/2112|406/703||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|11/14|c.1232G>A|p.Ser411Asn|1741/3786|1232/2127|411/708||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|12/12|c.1286G>A|p.Ser429Asn|1783/1942|1286/1445|429/480||WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*804G>A|||||6435|,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*1563G>A|||||6973|,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*750G>A|||||6435|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript||n.-1G>A|||||383|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript||n.-1G>A|||||206|,T|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript||n.*556G>A|||||1123|,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|4/6|n.404+4153G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*804G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*1563G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*750G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|10/13|n.4091G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|8/9|n.1998G>A|||||| 22 26860437 . A T . . ANN=T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|10/13|c.1198T>A|p.Phe400Ile|1198/3919|1198/2166|400/721||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|11/14|c.1159T>A|p.Phe387Ile|1776/4497|1159/2127|387/708||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|9/12|c.1144T>A|p.Phe382Ile|1444/3562|1144/2112|382/703||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|11/14|c.1159T>A|p.Phe387Ile|1668/3786|1159/2127|387/708||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|12/12|c.1213T>A|p.Phe405Ile|1710/1942|1213/1445|405/480||WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*731T>A|||||6362|,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*1490T>A|||||6900|,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*677T>A|||||6362|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript||n.-1T>A|||||456|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript||n.-1T>A|||||279|,T|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript||n.*556T>A|||||1050|,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|4/6|n.404+4080T>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*731T>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*1490T>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*677T>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|10/13|n.4018T>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|8/9|n.1925T>A|||||| 22 26860535 . G C . . ANN=C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|10/13|c.1100C>G|p.Ser367Cys|1100/3919|1100/2166|367/721||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|11/14|c.1061C>G|p.Ser354Cys|1678/4497|1061/2127|354/708||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|9/12|c.1046C>G|p.Ser349Cys|1346/3562|1046/2112|349/703||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|11/14|c.1061C>G|p.Ser354Cys|1570/3786|1061/2127|354/708||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|12/12|c.1115C>G|p.Ser372Cys|1612/1942|1115/1445|372/480||WARNING_TRANSCRIPT_INCOMPLETE,C|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*633C>G|||||6264|,C|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*1392C>G|||||6802|,C|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*579C>G|||||6264|,C|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript||n.-1C>G|||||554|,C|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript||n.-1C>G|||||377|,C|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript||n.*556C>G|||||952|,C|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|4/6|n.404+3982C>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*633C>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*1392C>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*579C>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|10/13|n.3920C>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|8/9|n.1827C>G|||||| 22 26860536 . A T . . ANN=T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|10/13|c.1099T>A|p.Ser367Thr|1099/3919|1099/2166|367/721||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|11/14|c.1060T>A|p.Ser354Thr|1677/4497|1060/2127|354/708||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|9/12|c.1045T>A|p.Ser349Thr|1345/3562|1045/2112|349/703||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|11/14|c.1060T>A|p.Ser354Thr|1569/3786|1060/2127|354/708||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|12/12|c.1114T>A|p.Ser372Thr|1611/1942|1114/1445|372/480||WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*632T>A|||||6263|,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*1391T>A|||||6801|,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*578T>A|||||6263|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript||n.-1T>A|||||555|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript||n.-1T>A|||||378|,T|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript||n.*556T>A|||||951|,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|4/6|n.404+3981T>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*632T>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*1391T>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*578T>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|10/13|n.3919T>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|8/9|n.1826T>A|||||| 22 26860582 . G A . . ANN=A|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|10/13|c.1053C>T|p.Pro351Pro|1053/3919|1053/2166|351/721||,A|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|11/14|c.1014C>T|p.Pro338Pro|1631/4497|1014/2127|338/708||,A|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|9/12|c.999C>T|p.Pro333Pro|1299/3562|999/2112|333/703||,A|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|11/14|c.1014C>T|p.Pro338Pro|1523/3786|1014/2127|338/708||,A|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|12/12|c.1068C>T|p.Pro356Pro|1565/1942|1068/1445|356/480||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*586C>T|||||6217|,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*1345C>T|||||6755|,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*532C>T|||||6217|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript||n.-1C>T|||||601|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript||n.-1C>T|||||424|,A|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript||n.*556C>T|||||905|,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|4/6|n.404+3935C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*586C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*1345C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*532C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|10/13|n.3873C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|8/9|n.1780C>T|||||| 22 26860650 . C T . . ANN=T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|10/13|c.985G>A|p.Glu329Lys|985/3919|985/2166|329/721||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|11/14|c.946G>A|p.Glu316Lys|1563/4497|946/2127|316/708||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|9/12|c.931G>A|p.Glu311Lys|1231/3562|931/2112|311/703||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|11/14|c.946G>A|p.Glu316Lys|1455/3786|946/2127|316/708||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|12/12|c.1000G>A|p.Glu334Lys|1497/1942|1000/1445|334/480||WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*518G>A|||||6149|,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*1277G>A|||||6687|,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*464G>A|||||6149|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript||n.-1G>A|||||669|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript||n.-1G>A|||||492|,T|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript||n.*556G>A|||||837|,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|4/6|n.404+3867G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*518G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*1277G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*464G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|10/13|n.3805G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|8/9|n.1712G>A|||||| 22 26860651 . G A . . ANN=A|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|10/13|c.984C>T|p.Asp328Asp|984/3919|984/2166|328/721||,A|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|11/14|c.945C>T|p.Asp315Asp|1562/4497|945/2127|315/708||,A|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|9/12|c.930C>T|p.Asp310Asp|1230/3562|930/2112|310/703||,A|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|11/14|c.945C>T|p.Asp315Asp|1454/3786|945/2127|315/708||,A|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|12/12|c.999C>T|p.Asp333Asp|1496/1942|999/1445|333/480||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*517C>T|||||6148|,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*1276C>T|||||6686|,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*463C>T|||||6148|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript||n.-1C>T|||||670|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript||n.-1C>T|||||493|,A|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript||n.*556C>T|||||836|,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|4/6|n.404+3866C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*517C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*1276C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*463C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|10/13|n.3804C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|8/9|n.1711C>T|||||| 22 26860708 . G A . . ANN=A|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|10/13|c.927C>T|p.Asn309Asn|927/3919|927/2166|309/721||,A|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|11/14|c.888C>T|p.Asn296Asn|1505/4497|888/2127|296/708||,A|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|9/12|c.873C>T|p.Asn291Asn|1173/3562|873/2112|291/703||,A|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|11/14|c.888C>T|p.Asn296Asn|1397/3786|888/2127|296/708||,A|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|12/12|c.942C>T|p.Asn314Asn|1439/1942|942/1445|314/480||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*460C>T|||||6091|,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*1219C>T|||||6629|,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*406C>T|||||6091|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript||n.-1C>T|||||727|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript||n.-1C>T|||||550|,A|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript||n.*556C>T|||||779|,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|4/6|n.404+3809C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*460C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*1219C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*406C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|10/13|n.3747C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|8/9|n.1654C>T|||||| 22 26860801 . CAA C . . ANN=|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript||n.-1_-1delTT|||||821|,|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript||n.-1_-1delTT|||||644|,|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript||n.*556_*556delTT|||||685|,|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|9/12|c.843-11_843-10delTT||||||,|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|10/13|c.804-11_804-10delTT||||||,|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|9/12|n.*376-11_*376-10delTT||||||,|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|8/11|n.*1135-11_*1135-10delTT||||||,|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|8/11|c.789-11_789-10delTT||||||,|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|10/13|c.804-11_804-10delTT||||||,|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|10/13|n.*322-11_*322-10delTT||||||,|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|9/12|n.3663-11_3663-10delTT||||||,|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|7/8|n.1570-11_1570-10delTT||||||,|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|4/6|n.404+3714_404+3715delTT||||||,|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|11/11|c.858-11_858-10delTT||||||WARNING_TRANSCRIPT_INCOMPLETE 22 26861429 . C T . . ANN=T|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|9/13|c.834G>A|p.Gln278Gln|834/3919|834/2166|278/721||,T|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|10/14|c.795G>A|p.Gln265Gln|1412/4497|795/2127|265/708||,T|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|8/12|c.780G>A|p.Gln260Gln|1080/3562|780/2112|260/703||,T|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|10/14|c.795G>A|p.Gln265Gln|1304/3786|795/2127|265/708||,T|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|11/12|c.849G>A|p.Gln283Gln|1346/1942|849/1445|283/480||WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|9/13|n.*367G>A|||||5370|,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|8/12|n.*1126G>A|||||5908|,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|10/14|n.*313G>A|||||5370|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript||n.-1G>A|||||1448|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript||n.-1G>A|||||1271|,T|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript||n.*556G>A|||||58|,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|4/6|n.404+3088G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|9/13|n.*367G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|8/12|n.*1126G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|10/14|n.*313G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|9/13|n.3654G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|7/9|n.1561G>A|||||| 22 26861473 . T A . . ANN=A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|9/13|c.790A>T|p.Thr264Ser|790/3919|790/2166|264/721||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|10/14|c.751A>T|p.Thr251Ser|1368/4497|751/2127|251/708||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|8/12|c.736A>T|p.Thr246Ser|1036/3562|736/2112|246/703||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|10/14|c.751A>T|p.Thr251Ser|1260/3786|751/2127|251/708||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|11/12|c.805A>T|p.Thr269Ser|1302/1942|805/1445|269/480||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|9/13|n.*323A>T|||||5326|,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|8/12|n.*1082A>T|||||5864|,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|10/14|n.*269A>T|||||5326|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript||n.-1A>T|||||1492|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript||n.-1A>T|||||1315|,A|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript||n.*556A>T|||||14|,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|4/6|n.404+3044A>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|9/13|n.*323A>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|8/12|n.*1082A>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|10/14|n.*269A>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|9/13|n.3610A>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|7/9|n.1517A>T|||||| 22 26861483 . A C,G,T . . ANN=C|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|9/13|c.780T>G|p.Pro260Pro|780/3919|780/2166|260/721||,G|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|9/13|c.780T>C|p.Pro260Pro|780/3919|780/2166|260/721||,T|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|9/13|c.780T>A|p.Pro260Pro|780/3919|780/2166|260/721||,C|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|10/14|c.741T>G|p.Pro247Pro|1358/4497|741/2127|247/708||,G|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|10/14|c.741T>C|p.Pro247Pro|1358/4497|741/2127|247/708||,T|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|10/14|c.741T>A|p.Pro247Pro|1358/4497|741/2127|247/708||,C|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|8/12|c.726T>G|p.Pro242Pro|1026/3562|726/2112|242/703||,G|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|8/12|c.726T>C|p.Pro242Pro|1026/3562|726/2112|242/703||,T|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|8/12|c.726T>A|p.Pro242Pro|1026/3562|726/2112|242/703||,C|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|10/14|c.741T>G|p.Pro247Pro|1250/3786|741/2127|247/708||,G|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|10/14|c.741T>C|p.Pro247Pro|1250/3786|741/2127|247/708||,T|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|10/14|c.741T>A|p.Pro247Pro|1250/3786|741/2127|247/708||,C|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|11/12|c.795T>G|p.Pro265Pro|1292/1942|795/1445|265/480||WARNING_TRANSCRIPT_INCOMPLETE,G|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|11/12|c.795T>C|p.Pro265Pro|1292/1942|795/1445|265/480||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|11/12|c.795T>A|p.Pro265Pro|1292/1942|795/1445|265/480||WARNING_TRANSCRIPT_INCOMPLETE,C|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|9/13|n.*313T>G|||||5316|,G|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|9/13|n.*313T>C|||||5316|,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|9/13|n.*313T>A|||||5316|,C|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|8/12|n.*1072T>G|||||5854|,G|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|8/12|n.*1072T>C|||||5854|,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|8/12|n.*1072T>A|||||5854|,C|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|10/14|n.*259T>G|||||5316|,G|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|10/14|n.*259T>C|||||5316|,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|10/14|n.*259T>A|||||5316|,C|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript||n.-1T>G|||||1502|,G|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript||n.-1T>C|||||1502|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript||n.-1T>A|||||1502|,C|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript||n.-1T>G|||||1325|,G|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript||n.-1T>C|||||1325|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript||n.-1T>A|||||1325|,C|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript||n.*556T>G|||||4|,G|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript||n.*556T>C|||||4|,T|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript||n.*556T>A|||||4|,C|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|4/6|n.404+3034T>G||||||,G|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|4/6|n.404+3034T>C||||||,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|4/6|n.404+3034T>A||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|9/13|n.*313T>G||||||,G|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|9/13|n.*313T>C||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|9/13|n.*313T>A||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|8/12|n.*1072T>G||||||,G|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|8/12|n.*1072T>C||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|8/12|n.*1072T>A||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|10/14|n.*259T>G||||||,G|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|10/14|n.*259T>C||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|10/14|n.*259T>A||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|9/13|n.3600T>G||||||,G|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|9/13|n.3600T>C||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|9/13|n.3600T>A||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|7/9|n.1507T>G||||||,G|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|7/9|n.1507T>C||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|7/9|n.1507T>A|||||| 22 26861501 . C T . . ANN=T|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|9/13|c.762G>A|p.Pro254Pro|762/3919|762/2166|254/721||,T|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|10/14|c.723G>A|p.Pro241Pro|1340/4497|723/2127|241/708||,T|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|8/12|c.708G>A|p.Pro236Pro|1008/3562|708/2112|236/703||,T|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|10/14|c.723G>A|p.Pro241Pro|1232/3786|723/2127|241/708||,T|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|11/12|c.777G>A|p.Pro259Pro|1274/1942|777/1445|259/480||WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|9/13|n.*295G>A|||||5298|,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|8/12|n.*1054G>A|||||5836|,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|10/14|n.*241G>A|||||5298|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript||n.-1G>A|||||1520|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript||n.-1G>A|||||1343|,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|4/6|n.404+3016G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|9/13|n.*295G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|8/12|n.*1054G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|10/14|n.*241G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|9/13|n.3582G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|7/9|n.1489G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript|8/8|n.542G>A|||||| 22 26861514 . G A . . ANN=A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|9/13|c.749C>T|p.Ala250Val|749/3919|749/2166|250/721||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|10/14|c.710C>T|p.Ala237Val|1327/4497|710/2127|237/708||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|8/12|c.695C>T|p.Ala232Val|995/3562|695/2112|232/703||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|10/14|c.710C>T|p.Ala237Val|1219/3786|710/2127|237/708||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|11/12|c.764C>T|p.Ala255Val|1261/1942|764/1445|255/480||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|9/13|n.*282C>T|||||5285|,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|8/12|n.*1041C>T|||||5823|,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|10/14|n.*228C>T|||||5285|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript||n.-1C>T|||||1533|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript||n.-1C>T|||||1356|,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|4/6|n.404+3003C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|9/13|n.*282C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|8/12|n.*1041C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|10/14|n.*228C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|9/13|n.3569C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|7/9|n.1476C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript|8/8|n.529C>T|||||| 22 26861545 . A G . . ANN=G|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|8/12|n.*1010T>C|||||5792|,G|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript||n.-1T>C|||||1564|,G|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript||n.-1T>C|||||1387|,G|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|8/12|c.746-28T>C||||||,G|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|9/13|c.707-28T>C||||||,G|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|8/12|n.*279-28T>C||||||,G|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|7/11|c.692-28T>C||||||,G|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|9/13|c.707-28T>C||||||,G|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|9/13|n.*225-28T>C||||||,G|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|8/12|n.3566-28T>C||||||,G|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|4/6|n.404+2972T>C||||||,G|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|10/11|c.761-28T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript|7/7|n.526-28T>C||||||,G|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|8/12|n.*1010T>C||||||,G|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|7/9|n.1445T>C|||||| 22 26861556 . AG A . . ANN=|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|8/12|n.*998delC|||||5780|,|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript||n.-1delC|||||1576|,|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript||n.-1delC|||||1399|,|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|8/12|c.746-40delC||||||,|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|9/13|c.707-40delC||||||,|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|8/12|n.*279-40delC||||||,|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|7/11|c.692-40delC||||||,|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|9/13|c.707-40delC||||||,|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|9/13|n.*225-40delC||||||,|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|8/12|n.3566-40delC||||||,|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|4/6|n.404+2960delC||||||,|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|10/11|c.761-40delC||||||WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript|7/7|n.526-40delC||||||,|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|8/12|n.*998delC||||||,|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|7/9|n.1433delC|||||| 22 26862153 . C A . . ANN=A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|8/12|n.*402G>T|||||5184|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript||n.-1G>T|||||2172|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript||n.-1G>T|||||1995|,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|7/12|c.691+39G>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|9/13|c.706+39G>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|7/12|n.*224+39G>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|7/11|c.691+39G>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|9/13|c.706+39G>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|9/13|n.*224+39G>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|8/12|n.3565+39G>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|4/6|n.404+2364G>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|9/11|c.706+39G>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript|7/7|n.525+39G>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|8/12|n.*402G>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|7/9|n.837G>T|||||| 22 26862156 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|8/12|n.*399G>A|||||5181|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript||n.-1G>A|||||2175|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript||n.-1G>A|||||1998|,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|7/12|c.691+36G>A||||||,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|9/13|c.706+36G>A||||||,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|7/12|n.*224+36G>A||||||,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|7/11|c.691+36G>A||||||,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|9/13|c.706+36G>A||||||,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|9/13|n.*224+36G>A||||||,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|8/12|n.3565+36G>A||||||,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|4/6|n.404+2361G>A||||||,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|9/11|c.706+36G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript|7/7|n.525+36G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|8/12|n.*399G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|7/9|n.834G>A|||||| 22 26862184 . C G . . ANN=G|splice_region_variant&intron_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|7/12|c.691+8G>C||||||,G|splice_region_variant&intron_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|9/13|c.706+8G>C||||||,G|splice_region_variant&intron_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|7/12|n.*224+8G>C||||||,G|splice_region_variant&intron_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|7/11|c.691+8G>C||||||,G|splice_region_variant&intron_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|9/13|c.706+8G>C||||||,G|splice_region_variant&intron_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|9/13|n.*224+8G>C||||||,G|splice_region_variant&intron_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|8/12|n.3565+8G>C||||||,G|splice_region_variant&intron_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|9/11|c.706+8G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|splice_region_variant&intron_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript|7/7|n.525+8G>C||||||,G|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|8/12|n.*371G>C|||||5153|,G|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript||n.-1G>C|||||2203|,G|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript||n.-1G>C|||||2026|,G|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|4/6|n.404+2333G>C||||||,G|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|8/12|n.*371G>C||||||,G|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|7/9|n.806G>C|||||| 22 26862202 . C T . . ANN=T|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|7/13|c.681G>A|p.Pro227Pro|681/3919|681/2166|227/721||,T|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|9/14|c.696G>A|p.Pro232Pro|1313/4497|696/2127|232/708||,T|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|7/12|c.681G>A|p.Pro227Pro|981/3562|681/2112|227/703||,T|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|9/14|c.696G>A|p.Pro232Pro|1205/3786|696/2127|232/708||,T|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|9/12|c.696G>A|p.Pro232Pro|1193/1942|696/1445|232/480||WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|7/13|n.*214G>A|||||4597|,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|8/12|n.*353G>A|||||5135|,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|9/14|n.*214G>A|||||4597|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript||n.-1G>A|||||2221|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript||n.-1G>A|||||2044|,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|4/6|n.404+2315G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|7/13|n.*214G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|8/12|n.*353G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|9/14|n.*214G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|8/13|n.3555G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|7/9|n.788G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript|7/8|n.515G>A|||||| 22 26862212 . T C . . ANN=C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|7/13|c.671A>G|p.Glu224Gly|671/3919|671/2166|224/721||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|9/14|c.686A>G|p.Glu229Gly|1303/4497|686/2127|229/708||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|7/12|c.671A>G|p.Glu224Gly|971/3562|671/2112|224/703||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|9/14|c.686A>G|p.Glu229Gly|1195/3786|686/2127|229/708||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|9/12|c.686A>G|p.Glu229Gly|1183/1942|686/1445|229/480||WARNING_TRANSCRIPT_INCOMPLETE,C|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|7/13|n.*204A>G|||||4587|,C|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|8/12|n.*343A>G|||||5125|,C|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|9/14|n.*204A>G|||||4587|,C|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript||n.-1A>G|||||2231|,C|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript||n.-1A>G|||||2054|,C|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|4/6|n.404+2305A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|7/13|n.*204A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|8/12|n.*343A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|9/14|n.*204A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|8/13|n.3545A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|7/9|n.778A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript|7/8|n.505A>G|||||| 22 26862218 . G A . . ANN=A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|7/13|c.665C>T|p.Thr222Met|665/3919|665/2166|222/721||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|9/14|c.680C>T|p.Thr227Met|1297/4497|680/2127|227/708||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|7/12|c.665C>T|p.Thr222Met|965/3562|665/2112|222/703||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|9/14|c.680C>T|p.Thr227Met|1189/3786|680/2127|227/708||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|9/12|c.680C>T|p.Thr227Met|1177/1942|680/1445|227/480||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|7/13|n.*198C>T|||||4581|,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|8/12|n.*337C>T|||||5119|,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|9/14|n.*198C>T|||||4581|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript||n.-1C>T|||||2237|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript||n.-1C>T|||||2060|,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|4/6|n.404+2299C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|7/13|n.*198C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|8/12|n.*337C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|9/14|n.*198C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|8/13|n.3539C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|7/9|n.772C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript|7/8|n.499C>T|||||| 22 26864568 . C T . . ANN=T|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|6/13|c.603G>A|p.Pro201Pro|603/3919|603/2166|201/721||,T|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|8/14|c.618G>A|p.Pro206Pro|1235/4497|618/2127|206/708||,T|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|6/12|c.603G>A|p.Pro201Pro|903/3562|603/2112|201/703||,T|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|8/14|c.618G>A|p.Pro206Pro|1127/3786|618/2127|206/708||,T|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|8/12|c.618G>A|p.Pro206Pro|1115/1942|618/1445|206/480||WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|6/13|n.*136G>A|||||2231|,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|7/12|n.*275G>A|||||2769|,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|8/14|n.*136G>A|||||2231|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript||n.-1G>A|||||4587|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript||n.-1G>A|||||4410|,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|6/13|n.*136G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|7/12|n.*275G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|8/14|n.*136G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|8/13|n.1189G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|6/9|n.710G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|4/7|n.353G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript|6/8|n.437G>A|||||| 22 26866641 . A G . . ANN=G|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000481910|retained_intron||n.*1914T>C|||||4695|,G|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|5/12|c.581+44T>C||||||,G|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|7/13|c.596+44T>C||||||,G|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|5/12|n.*114+44T>C||||||,G|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|6/11|n.*253+44T>C||||||,G|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|5/11|c.581+44T>C||||||,G|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|7/13|c.596+44T>C||||||,G|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|7/13|n.*114+44T>C||||||,G|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|7/12|n.1167+44T>C||||||,G|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|5/8|n.688+44T>C||||||,G|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|3/6|n.331+44T>C||||||,G|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|7/11|c.596+44T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript|5/7|n.415+44T>C|||||| 22 26866688 . C T . . ANN=T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|5/13|c.578G>A|p.Gly193Glu|578/3919|578/2166|193/721||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|7/14|c.593G>A|p.Gly198Glu|1210/4497|593/2127|198/708||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|5/12|c.578G>A|p.Gly193Glu|878/3562|578/2112|193/703||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|7/14|c.593G>A|p.Gly198Glu|1102/3786|593/2127|198/708||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|7/12|c.593G>A|p.Gly198Glu|1090/1942|593/1445|198/480||WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|5/13|n.*111G>A|||||111|,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|6/12|n.*250G>A|||||649|,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|7/14|n.*111G>A|||||111|,T|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000481910|retained_intron||n.*1914G>A|||||4648|,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|5/13|n.*111G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|6/12|n.*250G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|7/14|n.*111G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|7/13|n.1164G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|5/9|n.685G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|3/7|n.328G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript|5/8|n.412G>A|||||| 22 26866711 . G A . . ANN=A|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|5/13|c.555C>T|p.Leu185Leu|555/3919|555/2166|185/721||,A|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|7/14|c.570C>T|p.Leu190Leu|1187/4497|570/2127|190/708||,A|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|5/12|c.555C>T|p.Leu185Leu|855/3562|555/2112|185/703||,A|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|7/14|c.570C>T|p.Leu190Leu|1079/3786|570/2127|190/708||,A|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|7/12|c.570C>T|p.Leu190Leu|1067/1942|570/1445|190/480||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|5/13|n.*88C>T|||||88|,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|6/12|n.*227C>T|||||626|,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|7/14|n.*88C>T|||||88|,A|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000481910|retained_intron||n.*1914C>T|||||4625|,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|5/13|n.*88C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|6/12|n.*227C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|7/14|n.*88C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|7/13|n.1141C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|5/9|n.662C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|3/7|n.305C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript|5/8|n.389C>T|||||| 22 26866718 . T C . . ANN=C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|5/13|c.548A>G|p.His183Arg|548/3919|548/2166|183/721||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|7/14|c.563A>G|p.His188Arg|1180/4497|563/2127|188/708||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|5/12|c.548A>G|p.His183Arg|848/3562|548/2112|183/703||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|7/14|c.563A>G|p.His188Arg|1072/3786|563/2127|188/708||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|7/12|c.563A>G|p.His188Arg|1060/1942|563/1445|188/480||WARNING_TRANSCRIPT_INCOMPLETE,C|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|5/13|n.*81A>G|||||81|,C|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|6/12|n.*220A>G|||||619|,C|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|7/14|n.*81A>G|||||81|,C|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000481910|retained_intron||n.*1914A>G|||||4618|,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|5/13|n.*81A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|6/12|n.*220A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|7/14|n.*81A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|7/13|n.1134A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|5/9|n.655A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|3/7|n.298A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript|5/8|n.382A>G|||||| 22 26866723 . C T . . ANN=T|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|5/13|c.543G>A|p.Ser181Ser|543/3919|543/2166|181/721||,T|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|7/14|c.558G>A|p.Ser186Ser|1175/4497|558/2127|186/708||,T|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|5/12|c.543G>A|p.Ser181Ser|843/3562|543/2112|181/703||,T|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|7/14|c.558G>A|p.Ser186Ser|1067/3786|558/2127|186/708||,T|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|7/12|c.558G>A|p.Ser186Ser|1055/1942|558/1445|186/480||WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|5/13|n.*76G>A|||||76|,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|6/12|n.*215G>A|||||614|,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|7/14|n.*76G>A|||||76|,T|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000481910|retained_intron||n.*1914G>A|||||4613|,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|5/13|n.*76G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|6/12|n.*215G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|7/14|n.*76G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|7/13|n.1129G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|5/9|n.650G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|3/7|n.293G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript|5/8|n.377G>A|||||| 22 26866724 . G A . . ANN=A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|5/13|c.542C>T|p.Ser181Leu|542/3919|542/2166|181/721||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|7/14|c.557C>T|p.Ser186Leu|1174/4497|557/2127|186/708||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|5/12|c.542C>T|p.Ser181Leu|842/3562|542/2112|181/703||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|7/14|c.557C>T|p.Ser186Leu|1066/3786|557/2127|186/708||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|7/12|c.557C>T|p.Ser186Leu|1054/1942|557/1445|186/480||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|5/13|n.*75C>T|||||75|,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|6/12|n.*214C>T|||||613|,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|7/14|n.*75C>T|||||75|,A|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000481910|retained_intron||n.*1914C>T|||||4612|,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|5/13|n.*75C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|6/12|n.*214C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|7/14|n.*75C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|7/13|n.1128C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|5/9|n.649C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|3/7|n.292C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript|5/8|n.376C>T|||||| 22 26866738 . C A . . ANN=A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|5/13|c.528G>T|p.Gln176His|528/3919|528/2166|176/721||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|7/14|c.543G>T|p.Gln181His|1160/4497|543/2127|181/708||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|5/12|c.528G>T|p.Gln176His|828/3562|528/2112|176/703||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|7/14|c.543G>T|p.Gln181His|1052/3786|543/2127|181/708||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|7/12|c.543G>T|p.Gln181His|1040/1942|543/1445|181/480||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|5/13|n.*61G>T|||||61|,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|6/12|n.*200G>T|||||599|,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|7/14|n.*61G>T|||||61|,A|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000481910|retained_intron||n.*1914G>T|||||4598|,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|5/13|n.*61G>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|6/12|n.*200G>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|7/14|n.*61G>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|7/13|n.1114G>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|5/9|n.635G>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|3/7|n.278G>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript|5/8|n.362G>T|||||| 22 26866787 . G C . . ANN=C|splice_region_variant&intron_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|4/12|c.487-8C>G||||||,C|splice_region_variant&intron_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|6/13|c.502-8C>G||||||,C|splice_region_variant&intron_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|5/11|n.*159-8C>G||||||,C|splice_region_variant&intron_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|4/11|c.487-8C>G||||||,C|splice_region_variant&intron_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|6/13|c.502-8C>G||||||,C|splice_region_variant&intron_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|6/12|n.1073-8C>G||||||,C|splice_region_variant&intron_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|4/8|n.594-8C>G||||||,C|splice_region_variant&intron_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|2/6|n.237-8C>G||||||,C|splice_region_variant&intron_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|6/11|c.502-8C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|splice_region_variant&intron_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript|4/7|n.321-8C>G||||||,C|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|5/13|n.*12C>G|||||12|,C|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|7/14|n.*12C>G|||||12|,C|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000481910|retained_intron||n.*1914C>G|||||4549|,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|5/13|n.*12C>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|7/14|n.*12C>G|||||| 22 26868324 . T C . . ANN=C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|4/13|c.430A>G|p.Asn144Asp|430/3919|430/2166|144/721||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|6/14|c.445A>G|p.Asn149Asp|1062/4497|445/2127|149/708||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|4/12|c.430A>G|p.Asn144Asp|730/3562|430/2112|144/703||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|6/14|c.445A>G|p.Asn149Asp|954/3786|445/2127|149/708||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|6/12|c.445A>G|p.Asn149Asp|942/1942|445/1445|149/480||WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000481910|retained_intron||n.*1914A>G|||||3012|,C|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000483631|processed_transcript||n.*737A>G|||||4633|,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|4/13|n.430A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|4/12|n.430A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|6/14|n.445A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|6/13|n.1016A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|4/9|n.537A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|2/7|n.180A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript|3/8|n.188A>G|||||| 22 26868359 . G A . . ANN=A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|4/13|c.395C>T|p.Thr132Met|395/3919|395/2166|132/721||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|6/14|c.410C>T|p.Thr137Met|1027/4497|410/2127|137/708||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|4/12|c.395C>T|p.Thr132Met|695/3562|395/2112|132/703||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|6/14|c.410C>T|p.Thr137Met|919/3786|410/2127|137/708||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|6/12|c.410C>T|p.Thr137Met|907/1942|410/1445|137/480||WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000481910|retained_intron||n.*1914C>T|||||2977|,A|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000483631|processed_transcript||n.*737C>T|||||4598|,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|4/13|n.395C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|4/12|n.395C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|6/14|n.410C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|6/13|n.981C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|4/9|n.502C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|2/7|n.145C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript|3/8|n.153C>T|||||| 22 26868748 . G A . . ANN=A|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000481910|retained_intron||n.*1914C>T|||||2588|,A|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000483631|processed_transcript||n.*737C>T|||||4209|,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|3/12|c.369+50C>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|5/13|c.384+50C>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|3/12|n.369+50C>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|3/11|n.369+50C>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|3/11|c.369+50C>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|5/13|c.384+50C>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|5/13|n.384+50C>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|5/12|n.955+50C>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|3/8|n.476+50C>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|1/6|n.119+50C>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|5/11|c.384+50C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript|2/7|n.127+50C>T|||||| 22 26868809 . G C . . ANN=C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|3/13|c.358C>G|p.Leu120Val|358/3919|358/2166|120/721||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|5/14|c.373C>G|p.Leu125Val|990/4497|373/2127|125/708||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|3/12|c.358C>G|p.Leu120Val|658/3562|358/2112|120/703||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|5/14|c.373C>G|p.Leu125Val|882/3786|373/2127|125/708||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|5/12|c.373C>G|p.Leu125Val|870/1942|373/1445|125/480||WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000481910|retained_intron||n.*1914C>G|||||2527|,C|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000483631|processed_transcript||n.*737C>G|||||4148|,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|3/13|n.358C>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|3/12|n.358C>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|5/14|n.373C>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|5/13|n.944C>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|3/9|n.465C>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|1/7|n.108C>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript|2/8|n.116C>G|||||| 22 26868862 . C T . . ANN=T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|3/13|c.305G>A|p.Arg102Gln|305/3919|305/2166|102/721||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|5/14|c.320G>A|p.Arg107Gln|937/4497|320/2127|107/708||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|3/12|c.305G>A|p.Arg102Gln|605/3562|305/2112|102/703||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|5/14|c.320G>A|p.Arg107Gln|829/3786|320/2127|107/708||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|5/12|c.320G>A|p.Arg107Gln|817/1942|320/1445|107/480||WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000481910|retained_intron||n.*1914G>A|||||2474|,T|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000483631|processed_transcript||n.*737G>A|||||4095|,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|3/13|n.305G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|3/12|n.305G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|5/14|n.320G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|5/13|n.891G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|3/9|n.412G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|1/7|n.55G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript|2/8|n.63G>A|||||| 22 26868938 . T C . . ANN=C|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron||n.-1A>G|||||22|,C|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000481910|retained_intron||n.*1914A>G|||||2398|,C|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000483631|processed_transcript||n.*737A>G|||||4019|,C|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|2/12|c.262-33A>G||||||,C|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|4/13|c.277-33A>G||||||,C|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|2/12|n.262-33A>G||||||,C|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|2/11|n.262-33A>G||||||,C|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|2/11|c.262-33A>G||||||,C|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|4/13|c.277-33A>G||||||,C|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|4/13|n.277-33A>G||||||,C|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|4/12|n.848-33A>G||||||,C|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|2/8|n.369-33A>G||||||,C|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|4/11|c.277-33A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript|1/7|n.20-33A>G|||||| 22 26868946 . CT C . . ANN=|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron||n.-1delA|||||31|,|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000481910|retained_intron||n.*1914delA|||||2389|,|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000483631|processed_transcript||n.*737delA|||||4010|,|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|2/12|c.262-42delA||||||,|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|4/13|c.277-42delA||||||,|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|2/12|n.262-42delA||||||,|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|2/11|n.262-42delA||||||,|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|2/11|c.262-42delA||||||,|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|4/13|c.277-42delA||||||,|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|4/13|n.277-42delA||||||,|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|4/12|n.848-42delA||||||,|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|2/8|n.369-42delA||||||,|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|4/11|c.277-42delA||||||WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript|1/7|n.20-42delA|||||| 22 26872985 . T C . . ANN=C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|2/13|c.235A>G|p.Ile79Val|235/3919|235/2166|79/721||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|4/14|c.250A>G|p.Ile84Val|867/4497|250/2127|84/708||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|2/12|c.235A>G|p.Ile79Val|535/3562|235/2112|79/703||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|4/14|c.250A>G|p.Ile84Val|759/3786|250/2127|84/708||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|4/12|c.250A>G|p.Ile84Val|747/1942|250/1445|84/480||WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron||n.-1A>G|||||4069|,C|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript||n.-1A>G|||||8|,C|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000479064|processed_transcript||n.*697A>G|||||4816|,C|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000473782|processed_transcript||n.*575A>G|||||4839|,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|2/13|n.235A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|2/12|n.235A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|4/14|n.250A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|4/13|n.821A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|2/9|n.342A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000481910|retained_intron|2/2|n.265A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000483631|processed_transcript|3/3|n.709A>G|||||| 22 26873006 . G T . . ANN=T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|2/13|c.214C>A|p.Leu72Met|214/3919|214/2166|72/721||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|4/14|c.229C>A|p.Leu77Met|846/4497|229/2127|77/708||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|2/12|c.214C>A|p.Leu72Met|514/3562|214/2112|72/703||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|4/14|c.229C>A|p.Leu77Met|738/3786|229/2127|77/708||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|4/12|c.229C>A|p.Leu77Met|726/1942|229/1445|77/480||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron||n.-1C>A|||||4090|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript||n.-1C>A|||||29|,T|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000479064|processed_transcript||n.*697C>A|||||4795|,T|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000473782|processed_transcript||n.*575C>A|||||4818|,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|2/13|n.214C>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|2/12|n.214C>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|4/14|n.229C>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|4/13|n.800C>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|2/9|n.321C>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000481910|retained_intron|2/2|n.244C>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000483631|processed_transcript|3/3|n.688C>A|||||| 22 26873051 . G A . . ANN=A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|2/13|c.169C>T|p.Arg57Cys|169/3919|169/2166|57/721||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|4/14|c.184C>T|p.Arg62Cys|801/4497|184/2127|62/708||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|2/12|c.169C>T|p.Arg57Cys|469/3562|169/2112|57/703||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|4/14|c.184C>T|p.Arg62Cys|693/3786|184/2127|62/708||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|4/12|c.184C>T|p.Arg62Cys|681/1942|184/1445|62/480||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron||n.-1C>T|||||4135|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript||n.-1C>T|||||74|,A|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000479064|processed_transcript||n.*697C>T|||||4750|,A|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000473782|processed_transcript||n.*575C>T|||||4773|,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|2/13|n.169C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|2/12|n.169C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|4/14|n.184C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|4/13|n.755C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|2/9|n.276C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000481910|retained_intron|2/2|n.199C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000483631|processed_transcript|3/3|n.643C>T|||||| 22 26873114 . G A . . ANN=A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron||n.-1C>T|||||4198|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript||n.-1C>T|||||137|,A|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000479064|processed_transcript||n.*697C>T|||||4687|,A|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000473782|processed_transcript||n.*575C>T|||||4710|,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|1/12|c.118-12C>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|3/13|c.133-12C>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|1/12|n.118-12C>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|1/11|n.118-12C>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|1/11|c.118-12C>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|3/13|c.133-12C>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|3/13|n.133-12C>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|3/12|n.704-12C>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|1/8|n.225-12C>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|3/11|c.133-12C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000481910|retained_intron|1/1|n.148-12C>T||||||,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000483631|processed_transcript|2/2|n.592-12C>T|||||| 22 26875223 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|1/12|c.117+8A>G||||||,C|splice_region_variant&intron_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|3/13|c.132+8A>G||||||,C|splice_region_variant&intron_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|1/12|n.117+8A>G||||||,C|splice_region_variant&intron_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|1/11|n.117+8A>G||||||,C|splice_region_variant&intron_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|1/11|c.117+8A>G||||||,C|splice_region_variant&intron_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|3/13|c.132+8A>G||||||,C|splice_region_variant&intron_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|3/13|n.132+8A>G||||||,C|splice_region_variant&intron_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|3/12|n.703+8A>G||||||,C|splice_region_variant&intron_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|1/8|n.224+8A>G||||||,C|splice_region_variant&intron_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|3/11|c.132+8A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|splice_region_variant&intron_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000481910|retained_intron|1/1|n.147+8A>G||||||,C|upstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding||c.-15T>C|||||4620|,C|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript||n.-1A>G|||||2246|,C|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000479064|processed_transcript||n.*697A>G|||||2578|,C|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000473782|processed_transcript||n.*575A>G|||||2601|,C|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000483631|processed_transcript|2/2|n.592-2121A>G|||||| 22 26875255 . G A . . ANN=A|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|1/13|c.93C>T|p.Gly31Gly|93/3919|93/2166|31/721||,A|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|3/14|c.108C>T|p.Gly36Gly|725/4497|108/2127|36/708||,A|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|1/12|c.93C>T|p.Gly31Gly|393/3562|93/2112|31/703||,A|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|3/14|c.108C>T|p.Gly36Gly|617/3786|108/2127|36/708||,A|synonymous_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|3/12|c.108C>T|p.Gly36Gly|605/1942|108/1445|36/480||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding||c.-15G>A|||||4588|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript||n.-1C>T|||||2278|,A|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000479064|processed_transcript||n.*697C>T|||||2546|,A|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000473782|processed_transcript||n.*575C>T|||||2569|,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000483631|processed_transcript|2/2|n.592-2153C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|1/13|n.93C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|1/12|n.93C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|3/14|n.108C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|3/13|n.679C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|1/9|n.200C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000481910|retained_intron|1/2|n.123C>T|||||| 22 26875370 . C T . . ANN=T|5_prime_UTR_premature_start_codon_gain_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|1/13|n.-23G>A||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|1/12|n.-23G>A||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|1/12|c.-23G>A||||||,T|5_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|1/13|n.-23G>A|||||23|,T|5_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|1/12|n.-23G>A|||||23|,T|5_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|1/12|c.-23G>A|||||23|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding||c.-1G>A|||||23|,T|upstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding||c.-15C>T|||||4473|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript||n.-1G>A|||||2393|,T|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000479064|processed_transcript||n.*697G>A|||||2431|,T|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000473782|processed_transcript||n.*575G>A|||||2454|,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|2/13|c.42-49G>A||||||,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|2/13|c.42-49G>A||||||,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|2/13|n.42-49G>A||||||,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|2/12|n.613-49G>A||||||,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|2/11|c.42-49G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000483631|processed_transcript|2/2|n.592-2268G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|1/13|n.-23G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|1/12|n.-23G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|1/9|n.85G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000481910|retained_intron|1/2|n.8G>A|||||| 22 26877706 . T A . . ANN=A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|2/14|c.23A>T|p.Glu8Val|640/4497|23/2127|8/708||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|2/14|c.23A>T|p.Glu8Val|532/3786|23/2127|8/708||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|2/12|c.23A>T|p.Glu8Val|520/1942|23/1445|8/480||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding||c.-1A>T|||||2359|,A|upstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding||c.-15T>A|||||2137|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay||n.-68A>T|||||2292|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay||n.-166A>T|||||2194|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding||c.-301A>T|||||2059|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron||n.-1A>T|||||2252|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript||n.-1A>T|||||4729|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000481910|retained_intron||n.-1A>T|||||2329|,A|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000479064|processed_transcript||n.*697A>T|||||95|,A|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000473782|processed_transcript||n.*575A>T|||||118|,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|2/14|n.23A>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|2/13|n.594A>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000483631|processed_transcript|2/3|n.573A>T|||||| 22 26877774 . C G . . ANN=G|5_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|2/14|c.-46G>C|||||46|,G|5_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|2/14|c.-46G>C|||||46|,G|5_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|2/14|n.-46G>C|||||46|,G|5_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|2/12|c.-46G>C|||||46|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding||c.-1G>C|||||2427|,G|upstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding||c.-15C>G|||||2069|,G|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay||n.-68G>C|||||2360|,G|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay||n.-166G>C|||||2262|,G|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding||c.-301G>C|||||2127|,G|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron||n.-1G>C|||||2320|,G|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript||n.-1G>C|||||4797|,G|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000481910|retained_intron||n.-1G>C|||||2397|,G|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000479064|processed_transcript||n.*697G>C|||||27|,G|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000473782|processed_transcript||n.*575G>C|||||50|,G|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|2/14|n.-46G>C||||||,G|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|2/13|n.526G>C||||||,G|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000483631|processed_transcript|2/3|n.505G>C|||||| 22 26879823 . C A . . ANN=A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding||c.-1G>T|||||4476|,A|upstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding||c.-15C>A|||||20|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding||c.-618G>T|||||45|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay||n.-68G>T|||||4409|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay||n.-166G>T|||||4311|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding||c.-301G>T|||||4176|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding||c.-510G>T|||||62|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay||n.-551G>T|||||21|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron||n.-1G>T|||||20|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron||n.-1G>T|||||4369|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding||c.-498G>T|||||74|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000481910|retained_intron||n.-1G>T|||||4446|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000483631|processed_transcript||n.-1G>T|||||21|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000479064|processed_transcript||n.-1G>T|||||21|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000473782|processed_transcript||n.-1G>T|||||29|,A|upstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000477945|retained_intron||n.-1C>A|||||4125|,A|intergenic_region|MODIFIER|HPS4-SRRD|ENSG00000100099-ENSG00000100104|intergenic_region|ENSG00000100099-ENSG00000100104||||||||| 22 26879967 . A G . . ANN=G|synonymous_variant|LOW|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding|1/7|c.111A>G|p.Arg37Arg|125/4020|111/1020|37/339||,G|sequence_feature|LOW|SRRD|ENSG00000100104|region_of_interest:3_X_7_AA_tandem_repeats_of_R-E-A-A-P-R-G|ENST00000215917|protein_coding|1/7|c.111A>G||||||,G|sequence_feature|LOW|SRRD|ENSG00000100104|repeat:2|ENST00000215917|protein_coding|1/7|c.111A>G||||||,G|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding||c.-1T>C|||||4620|,G|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding||c.-618T>C|||||189|,G|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay||n.-68T>C|||||4553|,G|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay||n.-166T>C|||||4455|,G|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding||c.-301T>C|||||4320|,G|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding||c.-510T>C|||||206|,G|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay||n.-551T>C|||||165|,G|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron||n.-1T>C|||||164|,G|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron||n.-1T>C|||||4513|,G|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding||c.-498T>C|||||218|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000481910|retained_intron||n.-1T>C|||||4590|,G|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000483631|processed_transcript||n.-1T>C|||||165|,G|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000479064|processed_transcript||n.-1T>C|||||165|,G|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000473782|processed_transcript||n.-1T>C|||||173|,G|upstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000477945|retained_intron||n.-1A>G|||||3981| 22 26884039 . G A . . ANN=A|missense_variant|MODERATE|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding|3/7|c.295G>A|p.Ala99Thr|309/4020|295/1020|99/339||,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding||c.-618C>T|||||4261|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding||c.-510C>T|||||4278|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay||n.-551C>T|||||4237|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron||n.-1C>T|||||4236|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding||c.-498C>T|||||4290|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000483631|processed_transcript||n.-1C>T|||||4237|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000479064|processed_transcript||n.-1C>T|||||4237|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000473782|processed_transcript||n.-1C>T|||||4245|,A|upstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000471799|retained_intron||n.-1G>A|||||2700|,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding||c.*2869C>T|||||3913|,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding||c.*2798C>T|||||3152|,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.*923C>T|||||3854|,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding||c.*2888C>T|||||3854|,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding||c.*2703C>T|||||3854|,A|non_coding_exon_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000477945|retained_intron|1/4|n.92G>A|||||| 22 26884042 . C T . . ANN=T|missense_variant|MODERATE|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding|3/7|c.298C>T|p.Pro100Ser|312/4020|298/1020|100/339||,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding||c.-618G>A|||||4264|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding||c.-510G>A|||||4281|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay||n.-551G>A|||||4240|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron||n.-1G>A|||||4239|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding||c.-498G>A|||||4293|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000483631|processed_transcript||n.-1G>A|||||4240|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000479064|processed_transcript||n.-1G>A|||||4240|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000473782|processed_transcript||n.-1G>A|||||4248|,T|upstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000471799|retained_intron||n.-1C>T|||||2697|,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding||c.*2869G>A|||||3910|,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding||c.*2798G>A|||||3149|,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.*923G>A|||||3851|,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding||c.*2888G>A|||||3851|,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding||c.*2703G>A|||||3851|,T|non_coding_exon_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000477945|retained_intron|1/4|n.95C>T|||||| 22 26884152 . C T . . ANN=T|synonymous_variant|LOW|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding|3/7|c.408C>T|p.Thr136Thr|422/4020|408/1020|136/339||,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding||c.-618G>A|||||4374|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding||c.-510G>A|||||4391|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay||n.-551G>A|||||4350|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron||n.-1G>A|||||4349|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding||c.-498G>A|||||4403|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000483631|processed_transcript||n.-1G>A|||||4350|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000479064|processed_transcript||n.-1G>A|||||4350|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000473782|processed_transcript||n.-1G>A|||||4358|,T|upstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000471799|retained_intron||n.-1C>T|||||2587|,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding||c.*2869G>A|||||3800|,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding||c.*2798G>A|||||3039|,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.*923G>A|||||3741|,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding||c.*2888G>A|||||3741|,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding||c.*2703G>A|||||3741|,T|non_coding_exon_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000477945|retained_intron|1/4|n.205C>T|||||| 22 26884266 . G C . . ANN=C|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding||c.-618C>G|||||4488|,C|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding||c.-510C>G|||||4505|,C|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay||n.-551C>G|||||4464|,C|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron||n.-1C>G|||||4463|,C|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding||c.-498C>G|||||4517|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000483631|processed_transcript||n.-1C>G|||||4464|,C|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000479064|processed_transcript||n.-1C>G|||||4464|,C|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000473782|processed_transcript||n.-1C>G|||||4472|,C|upstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000471799|retained_intron||n.-1G>C|||||2473|,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding||c.*2869C>G|||||3686|,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding||c.*2798C>G|||||2925|,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.*923C>G|||||3627|,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding||c.*2888C>G|||||3627|,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding||c.*2703C>G|||||3627|,C|intron_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding|3/6|c.510+12G>C||||||,C|intron_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000477945|retained_intron|1/3|n.307+12G>C|||||| 22 26884278 . TCTC T . . ANN=|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding||c.-618_-618delGAG|||||4501|,|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding||c.-510_-510delGAG|||||4518|,|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay||n.-551_-551delGAG|||||4477|,|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron||n.-1_-1delGAG|||||4476|,|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding||c.-498_-498delGAG|||||4530|WARNING_TRANSCRIPT_INCOMPLETE,|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000483631|processed_transcript||n.-1_-1delGAG|||||4477|,|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000479064|processed_transcript||n.-1_-1delGAG|||||4477|,|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000473782|processed_transcript||n.-1_-1delGAG|||||4485|,|upstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000471799|retained_intron||n.-1_-1delCTC|||||2460|,|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding||c.*2869_*2869delGAG|||||3673|,|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding||c.*2798_*2798delGAG|||||2912|,|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.*923_*923delGAG|||||3614|,|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding||c.*2888_*2888delGAG|||||3614|,|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding||c.*2703_*2703delGAG|||||3614|,|intron_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding|3/6|c.510+34_510+36delCTC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000477945|retained_intron|1/3|n.307+34_307+36delCTC||||||INFO_REALIGN_3_PRIME 22 26884324 . G A . . ANN=A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding||c.-618C>T|||||4546|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding||c.-510C>T|||||4563|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay||n.-551C>T|||||4522|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron||n.-1C>T|||||4521|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding||c.-498C>T|||||4575|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000483631|processed_transcript||n.-1C>T|||||4522|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000479064|processed_transcript||n.-1C>T|||||4522|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000473782|processed_transcript||n.-1C>T|||||4530|,A|upstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000471799|retained_intron||n.-1G>A|||||2415|,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding||c.*2869C>T|||||3628|,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding||c.*2798C>T|||||2867|,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.*923C>T|||||3569|,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding||c.*2888C>T|||||3569|,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding||c.*2703C>T|||||3569|,A|intron_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding|3/6|c.511-32G>A||||||,A|intron_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000477945|retained_intron|1/3|n.308-32G>A|||||| 22 26886030 . C T . . ANN=T|synonymous_variant|LOW|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding|5/7|c.630C>T|p.Arg210Arg|644/4020|630/1020|210/339||,T|upstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000471799|retained_intron||n.-1C>T|||||709|,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding||c.*2869G>A|||||1922|,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding||c.*2798G>A|||||1161|,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.*923G>A|||||1863|,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding||c.*2888G>A|||||1863|,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding||c.*2703G>A|||||1863|,T|non_coding_exon_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000477945|retained_intron|3/4|n.427C>T|||||| 22 26886069 . G A . . ANN=A|synonymous_variant|LOW|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding|5/7|c.669G>A|p.Thr223Thr|683/4020|669/1020|223/339||,A|upstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000471799|retained_intron||n.-1G>A|||||670|,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding||c.*2869C>T|||||1883|,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding||c.*2798C>T|||||1122|,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.*923C>T|||||1824|,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding||c.*2888C>T|||||1824|,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding||c.*2703C>T|||||1824|,A|non_coding_exon_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000477945|retained_intron|3/4|n.466G>A|||||| 22 26886189 . T C . . ANN=C|upstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000471799|retained_intron||n.-1T>C|||||550|,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding||c.*2869A>G|||||1763|,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding||c.*2798A>G|||||1002|,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.*923A>G|||||1704|,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding||c.*2888A>G|||||1704|,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding||c.*2703A>G|||||1704|,C|intron_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding|5/6|c.764+25T>C||||||,C|intron_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000477945|retained_intron|3/3|n.561+25T>C|||||| 22 26886953 . GT G . . ANN=|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding||c.*2869delA|||||998|,|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding||c.*2798delA|||||237|,|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.*923delA|||||939|,|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding||c.*2888delA|||||939|,|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding||c.*2703delA|||||939|,|intron_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding|5/6|c.765-28delT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000477945|retained_intron|3/3|n.562-28delT||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000471799|retained_intron|1/2|n.225delT||||||INFO_REALIGN_3_PRIME 22 26886971 . T G . . ANN=G|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding||c.*2869A>C|||||981|,G|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding||c.*2798A>C|||||220|,G|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.*923A>C|||||922|,G|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding||c.*2888A>C|||||922|,G|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding||c.*2703A>C|||||922|,G|intron_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding|5/6|c.765-20T>G||||||,G|intron_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000477945|retained_intron|3/3|n.562-20T>G||||||,G|non_coding_exon_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000471799|retained_intron|1/2|n.233T>G|||||| 22 26886973 . G T . . ANN=T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding||c.*2869C>A|||||979|,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding||c.*2798C>A|||||218|,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.*923C>A|||||920|,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding||c.*2888C>A|||||920|,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding||c.*2703C>A|||||920|,T|intron_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding|5/6|c.765-18G>T||||||,T|intron_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000477945|retained_intron|3/3|n.562-18G>T||||||,T|non_coding_exon_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000471799|retained_intron|1/2|n.235G>T|||||| 22 26887051 . A G . . ANN=G|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding||c.*2869T>C|||||901|,G|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000477945|retained_intron||n.*607A>G|||||15|,G|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding||c.*2798T>C|||||140|,G|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.*923T>C|||||842|,G|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding||c.*2888T>C|||||842|,G|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding||c.*2703T>C|||||842|,G|intron_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding|6/6|c.810+15A>G||||||,G|intron_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000471799|retained_intron|1/1|n.298+15A>G|||||| 22 26887452 . T G . . ANN=G|synonymous_variant|LOW|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding|7/7|c.834T>G|p.Leu278Leu|848/4020|834/1020|278/339||,G|3_prime_UTR_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|15/15|c.*527A>C|||||527|,G|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding||c.*2869A>C|||||500|,G|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000477945|retained_intron||n.*607T>G|||||416|,G|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.*923A>C|||||441|,G|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding||c.*2888A>C|||||441|,G|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding||c.*2703A>C|||||441|,G|non_coding_exon_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000471799|retained_intron|2/2|n.322T>G|||||| 22 26887510 . T G . . ANN=G|missense_variant|MODERATE|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding|7/7|c.892T>G|p.Phe298Val|906/4020|892/1020|298/339||,G|3_prime_UTR_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|15/15|c.*469A>C|||||469|,G|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding||c.*2869A>C|||||442|,G|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000477945|retained_intron||n.*607T>G|||||474|,G|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.*923A>C|||||383|,G|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding||c.*2888A>C|||||383|,G|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding||c.*2703A>C|||||383|,G|non_coding_exon_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000471799|retained_intron|2/2|n.380T>G|||||| 22 26888024 . C T . . ANN=T|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|16/16|c.2469G>A|p.Thr823Thr|2824/2896|2469/2514|823/837||,T|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|15/15|c.2469G>A|p.Thr823Thr|2753/3586|2469/2514|823/837||,T|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|14/14|c.2469G>A|p.Thr823Thr|2843/2974|2469/2514|823/837||,T|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|14/14|c.2469G>A|p.Thr823Thr|2658/2789|2469/2514|823/837||,T|3_prime_UTR_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding|7/7|c.*386C>T|||||386|,T|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000477945|retained_intron||n.*607C>T|||||988|,T|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000471799|retained_intron||n.*668C>T|||||226|,T|non_coding_exon_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron|2/2|n.792G>A|||||| 22 26888033 . G A . . ANN=A|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|16/16|c.2460C>T|p.Gly820Gly|2815/2896|2460/2514|820/837||,A|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|15/15|c.2460C>T|p.Gly820Gly|2744/3586|2460/2514|820/837||,A|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|14/14|c.2460C>T|p.Gly820Gly|2834/2974|2460/2514|820/837||,A|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|14/14|c.2460C>T|p.Gly820Gly|2649/2789|2460/2514|820/837||,A|3_prime_UTR_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding|7/7|c.*395G>A|||||395|,A|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000477945|retained_intron||n.*607G>A|||||997|,A|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000471799|retained_intron||n.*668G>A|||||235|,A|non_coding_exon_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron|2/2|n.783C>T|||||| 22 26888060 . G A . . ANN=A|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|16/16|c.2433C>T|p.Ile811Ile|2788/2896|2433/2514|811/837||,A|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|15/15|c.2433C>T|p.Ile811Ile|2717/3586|2433/2514|811/837||,A|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|14/14|c.2433C>T|p.Ile811Ile|2807/2974|2433/2514|811/837||,A|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|14/14|c.2433C>T|p.Ile811Ile|2622/2789|2433/2514|811/837||,A|3_prime_UTR_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding|7/7|c.*422G>A|||||422|,A|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000477945|retained_intron||n.*607G>A|||||1024|,A|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000471799|retained_intron||n.*668G>A|||||262|,A|non_coding_exon_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron|2/2|n.756C>T|||||| 22 26888204 . G A . . ANN=A|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|16/16|c.2289C>T|p.Gly763Gly|2644/2896|2289/2514|763/837||,A|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|15/15|c.2289C>T|p.Gly763Gly|2573/3586|2289/2514|763/837||,A|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|14/14|c.2289C>T|p.Gly763Gly|2663/2974|2289/2514|763/837||,A|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|14/14|c.2289C>T|p.Gly763Gly|2478/2789|2289/2514|763/837||,A|3_prime_UTR_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding|7/7|c.*566G>A|||||566|,A|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000477945|retained_intron||n.*607G>A|||||1168|,A|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000471799|retained_intron||n.*668G>A|||||406|,A|non_coding_exon_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron|2/2|n.612C>T|||||| 22 26888258 . G A . . ANN=A|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|16/16|c.2235C>T|p.Tyr745Tyr|2590/2896|2235/2514|745/837||,A|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|15/15|c.2235C>T|p.Tyr745Tyr|2519/3586|2235/2514|745/837||,A|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|14/14|c.2235C>T|p.Tyr745Tyr|2609/2974|2235/2514|745/837||,A|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|14/14|c.2235C>T|p.Tyr745Tyr|2424/2789|2235/2514|745/837||,A|3_prime_UTR_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding|7/7|c.*620G>A|||||620|,A|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000477945|retained_intron||n.*607G>A|||||1222|,A|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000471799|retained_intron||n.*668G>A|||||460|,A|non_coding_exon_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron|2/2|n.558C>T|||||| 22 26888264 . G A . . ANN=A|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|16/16|c.2229C>T|p.Phe743Phe|2584/2896|2229/2514|743/837||,A|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|15/15|c.2229C>T|p.Phe743Phe|2513/3586|2229/2514|743/837||,A|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|14/14|c.2229C>T|p.Phe743Phe|2603/2974|2229/2514|743/837||,A|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|14/14|c.2229C>T|p.Phe743Phe|2418/2789|2229/2514|743/837||,A|3_prime_UTR_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding|7/7|c.*626G>A|||||626|,A|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000477945|retained_intron||n.*607G>A|||||1228|,A|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000471799|retained_intron||n.*668G>A|||||466|,A|non_coding_exon_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron|2/2|n.552C>T|||||| 22 26888345 . G C . . ANN=C|sequence_feature|LOW|TFIP11|ENSG00000100109|region_of_interest:Required_for_nuclear_speckle_localization|ENST00000407148|protein_coding|14/14|c.2159-11C>G||||||,C|sequence_feature|LOW|TFIP11|ENSG00000100109|region_of_interest:Required_for_nuclear_speckle_localization|ENST00000407148|protein_coding|13/14|c.2159-11C>G||||||,C|3_prime_UTR_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding|7/7|c.*707G>C|||||707|,C|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000477945|retained_intron||n.*607G>C|||||1309|,C|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000471799|retained_intron||n.*668G>C|||||547|,C|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|15/15|c.2159-11C>G||||||,C|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|14/14|c.2159-11C>G||||||,C|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron|1/1|n.482-11C>G||||||,C|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|13/13|c.2159-11C>G||||||,C|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|13/13|c.2159-11C>G|||||| 22 26888377 . G A . . ANN=A|sequence_feature|LOW|TFIP11|ENSG00000100109|region_of_interest:Required_for_nuclear_speckle_localization|ENST00000407148|protein_coding|14/14|c.2159-43C>T||||||,A|sequence_feature|LOW|TFIP11|ENSG00000100109|region_of_interest:Required_for_nuclear_speckle_localization|ENST00000407148|protein_coding|13/14|c.2159-43C>T||||||,A|3_prime_UTR_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding|7/7|c.*739G>A|||||739|,A|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000477945|retained_intron||n.*607G>A|||||1341|,A|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000471799|retained_intron||n.*668G>A|||||579|,A|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|15/15|c.2159-43C>T||||||,A|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|14/14|c.2159-43C>T||||||,A|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron|1/1|n.482-43C>T||||||,A|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|13/13|c.2159-43C>T||||||,A|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|13/13|c.2159-43C>T|||||| 22 26890086 . A T . . ANN=T|sequence_feature|LOW|TFIP11|ENSG00000100109|region_of_interest:Required_for_nuclear_speckle_localization|ENST00000407148|protein_coding|14/14|c.2158+19T>A||||||,T|sequence_feature|LOW|TFIP11|ENSG00000100109|region_of_interest:Required_for_nuclear_speckle_localization|ENST00000407148|protein_coding|13/14|c.2158+19T>A||||||,T|3_prime_UTR_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding|7/7|c.*2448A>T|||||2448|,T|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000477945|retained_intron||n.*607A>T|||||3050|,T|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000471799|retained_intron||n.*668A>T|||||2288|,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000481357|retained_intron||n.*561T>A|||||4583|,T|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|15/15|c.2158+19T>A||||||,T|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|14/14|c.2158+19T>A||||||,T|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron|1/1|n.481+19T>A||||||,T|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|13/13|c.2158+19T>A||||||,T|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|13/13|c.2158+19T>A|||||| 22 26890155 . T C . . ANN=C|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|15/16|c.2108A>G|p.Lys703Arg|2463/2896|2108/2514|703/837||,C|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|14/15|c.2108A>G|p.Lys703Arg|2392/3586|2108/2514|703/837||,C|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|13/14|c.2108A>G|p.Lys703Arg|2482/2974|2108/2514|703/837||,C|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|13/14|c.2108A>G|p.Lys703Arg|2297/2789|2108/2514|703/837||,C|sequence_feature|LOW|TFIP11|ENSG00000100109|short_sequence_motif:Nuclear_localization_signal|ENST00000407148|protein_coding|13/14|c.2108A>G||||||,C|3_prime_UTR_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding|7/7|c.*2517T>C|||||2517|,C|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000477945|retained_intron||n.*607T>C|||||3119|,C|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000471799|retained_intron||n.*668T>C|||||2357|,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000481357|retained_intron||n.*561A>G|||||4514|,C|non_coding_exon_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron|1/2|n.431A>G|||||| 22 26890736 . C T . . ANN=T|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.-1G>A|||||151|,T|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding||c.*1034C>T|||||112|,T|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000477945|retained_intron||n.*607C>T|||||3700|,T|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000471799|retained_intron||n.*668C>T|||||2938|,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000481357|retained_intron||n.*561G>A|||||3933|,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding||c.*571G>A|||||4644|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript||n.*572G>A|||||4767|,T|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|14/15|c.1992+27G>A||||||,T|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|13/14|c.1992+27G>A||||||,T|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|12/13|c.1992+27G>A||||||,T|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|12/13|c.1992+27G>A|||||| 22 26890927 . T C . . ANN=C|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.-1A>G|||||342|,C|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding||c.*1034T>C|||||303|,C|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000477945|retained_intron||n.*607T>C|||||3891|,C|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000471799|retained_intron||n.*668T>C|||||3129|,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000481357|retained_intron||n.*561A>G|||||3742|,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding||c.*571A>G|||||4453|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript||n.*572A>G|||||4576|,C|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|13/15|c.1850-22A>G||||||,C|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|12/14|c.1850-22A>G||||||,C|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|11/13|c.1850-22A>G||||||,C|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|11/13|c.1850-22A>G|||||| 22 26892031 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|13/15|c.1849+8T>C||||||,G|splice_region_variant&intron_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|12/14|c.1849+8T>C||||||,G|splice_region_variant&intron_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|11/13|c.1849+8T>C||||||,G|splice_region_variant&intron_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|11/13|c.1849+8T>C||||||,G|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.-1T>C|||||1446|,G|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding||c.*1034A>G|||||1407|,G|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000477945|retained_intron||n.*607A>G|||||4995|,G|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000471799|retained_intron||n.*668A>G|||||4233|,G|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000481357|retained_intron||n.*561T>C|||||2638|,G|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding||c.*571T>C|||||3349|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript||n.*572T>C|||||3472| 22 26892136 . G A . . ANN=A|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|13/16|c.1752C>T|p.Ser584Ser|2107/2896|1752/2514|584/837||,A|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|12/15|c.1752C>T|p.Ser584Ser|2036/3586|1752/2514|584/837||,A|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|11/14|c.1752C>T|p.Ser584Ser|2126/2974|1752/2514|584/837||,A|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|11/14|c.1752C>T|p.Ser584Ser|1941/2789|1752/2514|584/837||,A|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.-1C>T|||||1551|,A|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding||c.*1034G>A|||||1512|,A|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000471799|retained_intron||n.*668G>A|||||4338|,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000481357|retained_intron||n.*561C>T|||||2533|,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding||c.*571C>T|||||3244|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript||n.*572C>T|||||3367| 22 26892229 . G A . . ANN=A|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|13/16|c.1659C>T|p.His553His|2014/2896|1659/2514|553/837||,A|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|12/15|c.1659C>T|p.His553His|1943/3586|1659/2514|553/837||,A|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|11/14|c.1659C>T|p.His553His|2033/2974|1659/2514|553/837||,A|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|11/14|c.1659C>T|p.His553His|1848/2789|1659/2514|553/837||,A|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.-1C>T|||||1644|,A|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding||c.*1034G>A|||||1605|,A|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000471799|retained_intron||n.*668G>A|||||4431|,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000481357|retained_intron||n.*561C>T|||||2440|,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding||c.*571C>T|||||3151|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript||n.*572C>T|||||3274| 22 26892241 . G A . . ANN=A|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|13/16|c.1647C>T|p.His549His|2002/2896|1647/2514|549/837||,A|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|12/15|c.1647C>T|p.His549His|1931/3586|1647/2514|549/837||,A|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|11/14|c.1647C>T|p.His549His|2021/2974|1647/2514|549/837||,A|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|11/14|c.1647C>T|p.His549His|1836/2789|1647/2514|549/837||,A|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.-1C>T|||||1656|,A|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding||c.*1034G>A|||||1617|,A|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000471799|retained_intron||n.*668G>A|||||4443|,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000481357|retained_intron||n.*561C>T|||||2428|,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding||c.*571C>T|||||3139|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript||n.*572C>T|||||3262| 22 26892292 . G C . . ANN=C|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.-1C>G|||||1707|,C|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding||c.*1034G>C|||||1668|,C|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000471799|retained_intron||n.*668G>C|||||4494|,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000481357|retained_intron||n.*561C>G|||||2377|,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding||c.*571C>G|||||3088|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript||n.*572C>G|||||3211|,C|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|12/15|c.1606-10C>G||||||,C|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|11/14|c.1606-10C>G||||||,C|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|10/13|c.1606-10C>G||||||,C|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|10/13|c.1606-10C>G|||||| 22 26892306 . G C . . ANN=C|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.-1C>G|||||1721|,C|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding||c.*1034G>C|||||1682|,C|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000471799|retained_intron||n.*668G>C|||||4508|,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000481357|retained_intron||n.*561C>G|||||2363|,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding||c.*571C>G|||||3074|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript||n.*572C>G|||||3197|,C|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|12/15|c.1606-24C>G||||||,C|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|11/14|c.1606-24C>G||||||,C|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|10/13|c.1606-24C>G||||||,C|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|10/13|c.1606-24C>G|||||| 22 26892659 . C T . . ANN=T|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.-1G>A|||||2074|,T|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding||c.*1034C>T|||||2035|,T|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000471799|retained_intron||n.*668C>T|||||4861|,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000481357|retained_intron||n.*561G>A|||||2010|,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding||c.*571G>A|||||2721|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript||n.*572G>A|||||2844|,T|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|12/15|c.1605+28G>A||||||,T|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|11/14|c.1605+28G>A||||||,T|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|10/13|c.1605+28G>A||||||,T|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|10/13|c.1605+28G>A|||||| 22 26892752 . T C . . ANN=C|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|12/16|c.1540A>G|p.Ile514Val|1895/2896|1540/2514|514/837||,C|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|11/15|c.1540A>G|p.Ile514Val|1824/3586|1540/2514|514/837||,C|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|10/14|c.1540A>G|p.Ile514Val|1914/2974|1540/2514|514/837||,C|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|10/14|c.1540A>G|p.Ile514Val|1729/2789|1540/2514|514/837||,C|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.-1A>G|||||2167|,C|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding||c.*1034T>C|||||2128|,C|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000471799|retained_intron||n.*668T>C|||||4954|,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000481357|retained_intron||n.*561A>G|||||1917|,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding||c.*571A>G|||||2628|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript||n.*572A>G|||||2751| 22 26892763 . C G . . ANN=G|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|12/16|c.1529G>C|p.Ser510Thr|1884/2896|1529/2514|510/837||,G|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|11/15|c.1529G>C|p.Ser510Thr|1813/3586|1529/2514|510/837||,G|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|10/14|c.1529G>C|p.Ser510Thr|1903/2974|1529/2514|510/837||,G|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|10/14|c.1529G>C|p.Ser510Thr|1718/2789|1529/2514|510/837||,G|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.-1G>C|||||2178|,G|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding||c.*1034C>G|||||2139|,G|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000471799|retained_intron||n.*668C>G|||||4965|,G|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000481357|retained_intron||n.*561G>C|||||1906|,G|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding||c.*571G>C|||||2617|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript||n.*572G>C|||||2740| 22 26892844 . T C . . ANN=C|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|12/16|c.1448A>G|p.Glu483Gly|1803/2896|1448/2514|483/837||,C|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|11/15|c.1448A>G|p.Glu483Gly|1732/3586|1448/2514|483/837||,C|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|10/14|c.1448A>G|p.Glu483Gly|1822/2974|1448/2514|483/837||,C|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|10/14|c.1448A>G|p.Glu483Gly|1637/2789|1448/2514|483/837||,C|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.-1A>G|||||2259|,C|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding||c.*1034T>C|||||2220|,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000481357|retained_intron||n.*561A>G|||||1825|,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding||c.*571A>G|||||2536|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript||n.*572A>G|||||2659| 22 26892898 . C T . . ANN=T|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.-1G>A|||||2313|,T|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding||c.*1034C>T|||||2274|,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000481357|retained_intron||n.*561G>A|||||1771|,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding||c.*571G>A|||||2482|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript||n.*572G>A|||||2605|,T|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|11/15|c.1437-43G>A||||||,T|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|10/14|c.1437-43G>A||||||,T|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|9/13|c.1437-43G>A||||||,T|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|9/13|c.1437-43G>A|||||| 22 26894879 . G A . . ANN=A|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|11/16|c.1392C>T|p.Leu464Leu|1747/2896|1392/2514|464/837||,A|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|10/15|c.1392C>T|p.Leu464Leu|1676/3586|1392/2514|464/837||,A|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|9/14|c.1392C>T|p.Leu464Leu|1766/2974|1392/2514|464/837||,A|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|9/14|c.1392C>T|p.Leu464Leu|1581/2789|1392/2514|464/837||,A|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.-1C>T|||||4294|,A|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding||c.*1034G>A|||||4255|,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding||c.*571C>T|||||501|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript||n.*572C>T|||||624|,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000493698|retained_intron||n.*555C>T|||||3123|,A|non_coding_exon_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000481357|retained_intron|2/2|n.351C>T|||||| 22 26894974 . G A . . ANN=A|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.-1C>T|||||4389|,A|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding||c.*1034G>A|||||4350|,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding||c.*571C>T|||||406|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript||n.*572C>T|||||529|,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000493698|retained_intron||n.*555C>T|||||3028|,A|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|10/15|c.1330-33C>T||||||,A|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|9/14|c.1330-33C>T||||||,A|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|8/13|c.1330-33C>T||||||,A|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|8/13|c.1330-33C>T||||||,A|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000481357|retained_intron|1/1|n.289-33C>T|||||| 22 26894985 . C T . . ANN=T|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.-1G>A|||||4400|,T|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding||c.*1034C>T|||||4361|,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding||c.*571G>A|||||395|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript||n.*572G>A|||||518|,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000493698|retained_intron||n.*555G>A|||||3017|,T|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|10/15|c.1330-44G>A||||||,T|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|9/14|c.1330-44G>A||||||,T|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|8/13|c.1330-44G>A||||||,T|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|8/13|c.1330-44G>A||||||,T|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000481357|retained_intron|1/1|n.289-44G>A|||||| 22 26895047 . G T . . ANN=T|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.-1C>A|||||4462|,T|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding||c.*1034G>T|||||4423|,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding||c.*571C>A|||||333|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript||n.*572C>A|||||456|,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000493698|retained_intron||n.*555C>A|||||2955|,T|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|10/15|c.1329+23C>A||||||,T|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|9/14|c.1329+23C>A||||||,T|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|8/13|c.1329+23C>A||||||,T|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|8/13|c.1329+23C>A||||||,T|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000481357|retained_intron|1/1|n.288+23C>A|||||| 22 26895049 . T C . . ANN=C|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.-1A>G|||||4464|,C|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding||c.*1034T>C|||||4425|,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding||c.*571A>G|||||331|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript||n.*572A>G|||||454|,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000493698|retained_intron||n.*555A>G|||||2953|,C|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|10/15|c.1329+21A>G||||||,C|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|9/14|c.1329+21A>G||||||,C|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|8/13|c.1329+21A>G||||||,C|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|8/13|c.1329+21A>G||||||,C|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000481357|retained_intron|1/1|n.288+21A>G|||||| 22 26895061 . G A . . ANN=A|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.-1C>T|||||4476|,A|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding||c.*1034G>A|||||4437|,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding||c.*571C>T|||||319|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript||n.*572C>T|||||442|,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000493698|retained_intron||n.*555C>T|||||2941|,A|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|10/15|c.1329+9C>T||||||,A|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|9/14|c.1329+9C>T||||||,A|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|8/13|c.1329+9C>T||||||,A|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|8/13|c.1329+9C>T||||||,A|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000481357|retained_intron|1/1|n.288+9C>T|||||| 22 26895127 . A G . . ANN=G|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|10/16|c.1272T>C|p.Ala424Ala|1627/2896|1272/2514|424/837||,G|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|9/15|c.1272T>C|p.Ala424Ala|1556/3586|1272/2514|424/837||,G|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|8/14|c.1272T>C|p.Ala424Ala|1646/2974|1272/2514|424/837||,G|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|8/14|c.1272T>C|p.Ala424Ala|1461/2789|1272/2514|424/837||,G|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.-1T>C|||||4542|,G|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding||c.*1034A>G|||||4503|,G|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding||c.*571T>C|||||253|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript||n.*572T>C|||||376|,G|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000493698|retained_intron||n.*555T>C|||||2875|,G|non_coding_exon_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000481357|retained_intron|1/2|n.231T>C|||||| 22 26895128 . G A . . ANN=A|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|10/16|c.1271C>T|p.Ala424Val|1626/2896|1271/2514|424/837||,A|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|9/15|c.1271C>T|p.Ala424Val|1555/3586|1271/2514|424/837||,A|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|8/14|c.1271C>T|p.Ala424Val|1645/2974|1271/2514|424/837||,A|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|8/14|c.1271C>T|p.Ala424Val|1460/2789|1271/2514|424/837||,A|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.-1C>T|||||4543|,A|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding||c.*1034G>A|||||4504|,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding||c.*571C>T|||||252|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript||n.*572C>T|||||375|,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000493698|retained_intron||n.*555C>T|||||2874|,A|non_coding_exon_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000481357|retained_intron|1/2|n.230C>T|||||| 22 26895204 . C T . . ANN=T|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|10/16|c.1195G>A|p.Glu399Lys|1550/2896|1195/2514|399/837||,T|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|9/15|c.1195G>A|p.Glu399Lys|1479/3586|1195/2514|399/837||,T|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|8/14|c.1195G>A|p.Glu399Lys|1569/2974|1195/2514|399/837||,T|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|8/14|c.1195G>A|p.Glu399Lys|1384/2789|1195/2514|399/837||,T|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.-1G>A|||||4619|,T|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding||c.*1034C>T|||||4580|,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding||c.*571G>A|||||176|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript||n.*572G>A|||||299|,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000493698|retained_intron||n.*555G>A|||||2798|,T|non_coding_exon_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000481357|retained_intron|1/2|n.154G>A|||||| 22 26895227 . C T . . ANN=T|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|10/16|c.1172G>A|p.Cys391Tyr|1527/2896|1172/2514|391/837||,T|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|9/15|c.1172G>A|p.Cys391Tyr|1456/3586|1172/2514|391/837||,T|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|8/14|c.1172G>A|p.Cys391Tyr|1546/2974|1172/2514|391/837||,T|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|8/14|c.1172G>A|p.Cys391Tyr|1361/2789|1172/2514|391/837||,T|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.-1G>A|||||4642|,T|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding||c.*1034C>T|||||4603|,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding||c.*571G>A|||||153|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript||n.*572G>A|||||276|,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000493698|retained_intron||n.*555G>A|||||2775|,T|non_coding_exon_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000481357|retained_intron|1/2|n.131G>A|||||| 22 26895246 . G A . . ANN=A|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|10/16|c.1153C>T|p.Arg385Trp|1508/2896|1153/2514|385/837||,A|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|9/15|c.1153C>T|p.Arg385Trp|1437/3586|1153/2514|385/837||,A|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|8/14|c.1153C>T|p.Arg385Trp|1527/2974|1153/2514|385/837||,A|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|8/14|c.1153C>T|p.Arg385Trp|1342/2789|1153/2514|385/837||,A|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.-1C>T|||||4661|,A|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding||c.*1034G>A|||||4622|,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding||c.*571C>T|||||134|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript||n.*572C>T|||||257|,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000493698|retained_intron||n.*555C>T|||||2756|,A|non_coding_exon_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000481357|retained_intron|1/2|n.112C>T|||||| 22 26895248 . T G . . ANN=G|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|10/16|c.1151A>C|p.Glu384Ala|1506/2896|1151/2514|384/837||,G|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|9/15|c.1151A>C|p.Glu384Ala|1435/3586|1151/2514|384/837||,G|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|8/14|c.1151A>C|p.Glu384Ala|1525/2974|1151/2514|384/837||,G|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|8/14|c.1151A>C|p.Glu384Ala|1340/2789|1151/2514|384/837||,G|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.-1A>C|||||4663|,G|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding||c.*1034T>G|||||4624|,G|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding||c.*571A>C|||||132|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript||n.*572A>C|||||255|,G|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000493698|retained_intron||n.*555A>C|||||2754|,G|non_coding_exon_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000481357|retained_intron|1/2|n.110A>C|||||| 22 26895337 . G A . . ANN=A|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|10/16|c.1062C>T|p.His354His|1417/2896|1062/2514|354/837||,A|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|9/15|c.1062C>T|p.His354His|1346/3586|1062/2514|354/837||,A|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|8/14|c.1062C>T|p.His354His|1436/2974|1062/2514|354/837||,A|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|8/14|c.1062C>T|p.His354His|1251/2789|1062/2514|354/837||,A|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.-1C>T|||||4752|,A|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding||c.*1034G>A|||||4713|,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding||c.*571C>T|||||43|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript||n.*572C>T|||||166|,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000493698|retained_intron||n.*555C>T|||||2665|,A|non_coding_exon_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000481357|retained_intron|1/2|n.21C>T|||||| 22 26895387 . T G . . ANN=G|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|10/16|c.1012A>C|p.Asn338His|1367/2896|1012/2514|338/837||,G|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|9/15|c.1012A>C|p.Asn338His|1296/3586|1012/2514|338/837||,G|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|8/14|c.1012A>C|p.Asn338His|1386/2974|1012/2514|338/837||,G|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|8/14|c.1012A>C|p.Asn338His|1201/2789|1012/2514|338/837||,G|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding|4/4|c.562A>C|p.Asn188His|564/571|562/569|188/188||WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.-1A>C|||||4802|,G|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000481357|retained_intron||n.-1A>C|||||30|,G|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding||c.*1034T>G|||||4763|,G|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript||n.*572A>C|||||116|,G|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000493698|retained_intron||n.*555A>C|||||2615| 22 26895496 . T C . . ANN=C|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|10/16|c.903A>G|p.Gln301Gln|1258/2896|903/2514|301/837||,C|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|9/15|c.903A>G|p.Gln301Gln|1187/3586|903/2514|301/837||,C|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|8/14|c.903A>G|p.Gln301Gln|1277/2974|903/2514|301/837||,C|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|8/14|c.903A>G|p.Gln301Gln|1092/2789|903/2514|301/837||,C|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding|4/4|c.453A>G|p.Gln151Gln|455/571|453/569|151/188||WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.-1A>G|||||4911|,C|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000481357|retained_intron||n.-1A>G|||||139|,C|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding||c.*1034T>C|||||4872|,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript||n.*572A>G|||||7|,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000493698|retained_intron||n.*555A>G|||||2506| 22 26895517 . A T . . ANN=T|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|10/16|c.882T>A|p.Asp294Glu|1237/2896|882/2514|294/837||,T|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|9/15|c.882T>A|p.Asp294Glu|1166/3586|882/2514|294/837||,T|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|8/14|c.882T>A|p.Asp294Glu|1256/2974|882/2514|294/837||,T|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|8/14|c.882T>A|p.Asp294Glu|1071/2789|882/2514|294/837||,T|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding|4/4|c.432T>A|p.Asp144Glu|434/571|432/569|144/188||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.-1T>A|||||4932|,T|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000481357|retained_intron||n.-1T>A|||||160|,T|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding||c.*1034A>T|||||4893|,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000493698|retained_intron||n.*555T>A|||||2485|,T|non_coding_exon_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript|4/4|n.558T>A|||||| 22 26895528 . C T . . ANN=T|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|10/16|c.871G>A|p.Val291Ile|1226/2896|871/2514|291/837||,T|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|9/15|c.871G>A|p.Val291Ile|1155/3586|871/2514|291/837||,T|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|8/14|c.871G>A|p.Val291Ile|1245/2974|871/2514|291/837||,T|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|8/14|c.871G>A|p.Val291Ile|1060/2789|871/2514|291/837||,T|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding|4/4|c.421G>A|p.Val141Ile|423/571|421/569|141/188||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.-1G>A|||||4943|,T|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000481357|retained_intron||n.-1G>A|||||171|,T|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding||c.*1034C>T|||||4904|,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000493698|retained_intron||n.*555G>A|||||2474|,T|non_coding_exon_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript|4/4|n.547G>A|||||| 22 26895613 . G A . . ANN=A|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000481357|retained_intron||n.-1C>T|||||256|,A|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding||c.*1034G>A|||||4989|,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000493698|retained_intron||n.*555C>T|||||2389|,A|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|9/15|c.802-16C>T||||||,A|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|8/14|c.802-16C>T||||||,A|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|7/13|c.802-16C>T||||||,A|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|7/13|c.802-16C>T||||||,A|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding|3/3|c.352-16C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript|3/3|n.478-16C>T|||||| 22 26897819 . A C . . ANN=C|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000481357|retained_intron||n.-1T>G|||||2462|,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000493698|retained_intron||n.*555T>G|||||183|,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000479489|retained_intron||n.*749T>G|||||4820|,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000472918|retained_intron||n.*571T>G|||||4885|,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000455080|protein_coding||c.*638T>G|||||4921|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|9/15|c.801+47T>G||||||,C|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|8/14|c.801+47T>G||||||,C|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|7/13|c.801+47T>G||||||,C|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|7/13|c.801+47T>G||||||,C|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding|3/3|c.351+47T>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript|3/3|n.477+47T>G|||||| 22 26897834 . A T . . ANN=T|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000481357|retained_intron||n.-1T>A|||||2477|,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000493698|retained_intron||n.*555T>A|||||168|,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000479489|retained_intron||n.*749T>A|||||4805|,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000472918|retained_intron||n.*571T>A|||||4870|,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000455080|protein_coding||c.*638T>A|||||4906|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|9/15|c.801+32T>A||||||,T|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|8/14|c.801+32T>A||||||,T|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|7/13|c.801+32T>A||||||,T|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|7/13|c.801+32T>A||||||,T|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding|3/3|c.351+32T>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript|3/3|n.477+32T>A|||||| 22 26897845 . G C . . ANN=C|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000481357|retained_intron||n.-1C>G|||||2488|,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000493698|retained_intron||n.*555C>G|||||157|,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000479489|retained_intron||n.*749C>G|||||4794|,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000472918|retained_intron||n.*571C>G|||||4859|,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000455080|protein_coding||c.*638C>G|||||4895|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000418876|protein_coding||c.*563C>G|||||4995|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000420242|protein_coding||c.*525C>G|||||4999|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|9/15|c.801+21C>G||||||,C|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|8/14|c.801+21C>G||||||,C|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|7/13|c.801+21C>G||||||,C|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|7/13|c.801+21C>G||||||,C|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding|3/3|c.351+21C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript|3/3|n.477+21C>G|||||| 22 26899695 . G A . . ANN=A|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|8/16|c.585C>T|p.Ser195Ser|940/2896|585/2514|195/837||,A|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|7/15|c.585C>T|p.Ser195Ser|869/3586|585/2514|195/837||,A|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|6/14|c.585C>T|p.Ser195Ser|959/2974|585/2514|195/837||,A|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|6/14|c.585C>T|p.Ser195Ser|774/2789|585/2514|195/837||,A|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding|2/4|c.93C>T|p.Ser31Ser|95/571|93/569|31/188||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|TFIP11|ENSG00000100109|domain:G-patch|ENST00000407148|protein_coding|5/14|c.585C>T||||||,A|sequence_feature|LOW|TFIP11|ENSG00000100109|domain:G-patch|ENST00000407148|protein_coding|6/14|c.585C>T||||||,A|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000481357|retained_intron||n.-1C>T|||||4338|,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000479489|retained_intron||n.*749C>T|||||2944|,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000472918|retained_intron||n.*571C>T|||||3009|,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000455080|protein_coding||c.*638C>T|||||3045|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000418876|protein_coding||c.*563C>T|||||3145|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000420242|protein_coding||c.*525C>T|||||3149|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript|2/4|n.261C>T||||||,A|non_coding_exon_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000493698|retained_intron|2/3|n.475C>T|||||| 22 26899784 . AG A . . ANN=|sequence_feature|LOW|TFIP11|ENSG00000100109|domain:G-patch|ENST00000407148|protein_coding|5/14|c.521-26delC||||||,|sequence_feature|LOW|TFIP11|ENSG00000100109|domain:G-patch|ENST00000407148|protein_coding|6/14|c.521-26delC||||||,|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000481357|retained_intron||n.-1delC|||||4428|,|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000479489|retained_intron||n.*749delC|||||2854|,|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000472918|retained_intron||n.*571delC|||||2919|,|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000455080|protein_coding||c.*638delC|||||2955|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000418876|protein_coding||c.*563delC|||||3055|WARNING_TRANSCRIPT_NO_STOP_CODON,|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000420242|protein_coding||c.*525delC|||||3059|WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|7/15|c.521-26delC||||||,|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|6/14|c.521-26delC||||||,|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|5/13|c.521-26delC||||||,|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|5/13|c.521-26delC||||||,|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding|1/3|c.29-26delC||||||WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript|1/3|n.197-26delC||||||,|intron_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000493698|retained_intron|1/2|n.411-26delC|||||| 22 26902371 . T C . . ANN=C|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|7/16|c.418A>G|p.Met140Val|773/2896|418/2514|140/837||,C|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|6/15|c.418A>G|p.Met140Val|702/3586|418/2514|140/837||,C|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|5/14|c.418A>G|p.Met140Val|792/2974|418/2514|140/837||,C|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|5/14|c.418A>G|p.Met140Val|607/2789|418/2514|140/837||,C|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding||c.-3A>G|||||73|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript||n.-1A>G|||||300|,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000479489|retained_intron||n.*749A>G|||||268|,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000472918|retained_intron||n.*571A>G|||||333|,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000455080|protein_coding||c.*638A>G|||||369|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000418876|protein_coding||c.*563A>G|||||469|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000420242|protein_coding||c.*525A>G|||||473|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000440258|protein_coding||c.*595A>G|||||3740|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000493698|retained_intron|1/3|n.308A>G|||||| 22 26902750 . C T . . ANN=T|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|6/16|c.354G>A|p.Lys118Lys|709/2896|354/2514|118/837||,T|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|5/15|c.354G>A|p.Lys118Lys|638/3586|354/2514|118/837||,T|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|4/14|c.354G>A|p.Lys118Lys|728/2974|354/2514|118/837||,T|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|4/14|c.354G>A|p.Lys118Lys|543/2789|354/2514|118/837||,T|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000455080|protein_coding|6/6|c.354G>A|p.Lys118Lys|628/638|354/364|118/120||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding||c.-3G>A|||||452|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript||n.-1G>A|||||679|,T|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000493698|retained_intron||n.-1G>A|||||72|,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000418876|protein_coding||c.*563G>A|||||90|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000420242|protein_coding||c.*525G>A|||||94|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000440258|protein_coding||c.*595G>A|||||3361|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000464449|retained_intron||n.*589G>A|||||4905|,T|non_coding_exon_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000479489|retained_intron|5/5|n.638G>A||||||,T|non_coding_exon_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000472918|retained_intron|4/4|n.525G>A|||||| 22 26902835 . G A . . ANN=A|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|6/16|c.269C>T|p.Ala90Val|624/2896|269/2514|90/837||,A|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|5/15|c.269C>T|p.Ala90Val|553/3586|269/2514|90/837||,A|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|4/14|c.269C>T|p.Ala90Val|643/2974|269/2514|90/837||,A|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|4/14|c.269C>T|p.Ala90Val|458/2789|269/2514|90/837||,A|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000455080|protein_coding|6/6|c.269C>T|p.Ala90Val|543/638|269/364|90/120||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding||c.-3C>T|||||537|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript||n.-1C>T|||||764|,A|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000493698|retained_intron||n.-1C>T|||||157|,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000418876|protein_coding||c.*563C>T|||||5|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000420242|protein_coding||c.*525C>T|||||9|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000440258|protein_coding||c.*595C>T|||||3276|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000464449|retained_intron||n.*589C>T|||||4820|,A|non_coding_exon_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000479489|retained_intron|5/5|n.553C>T||||||,A|non_coding_exon_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000472918|retained_intron|4/4|n.440C>T|||||| 22 26902890 . G A . . ANN=A|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|6/16|c.214C>T|p.Arg72Cys|569/2896|214/2514|72/837||,A|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|5/15|c.214C>T|p.Arg72Cys|498/3586|214/2514|72/837||,A|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|4/14|c.214C>T|p.Arg72Cys|588/2974|214/2514|72/837||,A|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|4/14|c.214C>T|p.Arg72Cys|403/2789|214/2514|72/837||,A|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000455080|protein_coding|6/6|c.214C>T|p.Arg72Cys|488/638|214/364|72/120||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000418876|protein_coding|6/6|c.214C>T|p.Arg72Cys|513/563|214/264|72/87||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000420242|protein_coding|5/5|c.214C>T|p.Arg72Cys|479/525|214/260|72/85||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding||c.-3C>T|||||592|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript||n.-1C>T|||||819|,A|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000493698|retained_intron||n.-1C>T|||||212|,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000440258|protein_coding||c.*595C>T|||||3221|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000464449|retained_intron||n.*589C>T|||||4765|,A|non_coding_exon_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000479489|retained_intron|5/5|n.498C>T||||||,A|non_coding_exon_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000472918|retained_intron|4/4|n.385C>T|||||| 22 26906031 . G A . . ANN=A|missense_variant&splice_region_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|5/16|c.208C>T|p.Arg70Trp|563/2896|208/2514|70/837||,A|missense_variant&splice_region_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|4/15|c.208C>T|p.Arg70Trp|492/3586|208/2514|70/837||,A|missense_variant&splice_region_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|3/14|c.208C>T|p.Arg70Trp|582/2974|208/2514|70/837||,A|missense_variant&splice_region_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|3/14|c.208C>T|p.Arg70Trp|397/2789|208/2514|70/837||,A|missense_variant&splice_region_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000455080|protein_coding|5/6|c.208C>T|p.Arg70Trp|482/638|208/364|70/120||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant&splice_region_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000418876|protein_coding|5/6|c.208C>T|p.Arg70Trp|507/563|208/264|70/87||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant&splice_region_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000420242|protein_coding|4/5|c.208C>T|p.Arg70Trp|473/525|208/260|70/85||WARNING_TRANSCRIPT_INCOMPLETE,A|splice_region_variant&non_coding_exon_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000479489|retained_intron|4/5|n.492C>T||||||,A|splice_region_variant&non_coding_exon_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000472918|retained_intron|3/4|n.379C>T||||||,A|upstream_gene_variant|MODIFIER|CTA-445C9.14|ENSG00000261188|transcript|ENST00000566814|antisense||n.-1G>A|||||2472|,A|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding||c.-3C>T|||||3733|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript||n.-1C>T|||||3960|,A|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000493698|retained_intron||n.-1C>T|||||3353|,A|upstream_gene_variant|MODIFIER|CTA-445C9.14|ENSG00000261188|transcript|ENST00000565764|antisense||n.-1G>A|||||2490|,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000440258|protein_coding||c.*595C>T|||||80|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000464449|retained_intron||n.*589C>T|||||1624| 22 26906086 . G A . . ANN=A|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|5/16|c.153C>T|p.Tyr51Tyr|508/2896|153/2514|51/837||,A|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|4/15|c.153C>T|p.Tyr51Tyr|437/3586|153/2514|51/837||,A|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|3/14|c.153C>T|p.Tyr51Tyr|527/2974|153/2514|51/837||,A|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|3/14|c.153C>T|p.Tyr51Tyr|342/2789|153/2514|51/837||,A|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000455080|protein_coding|5/6|c.153C>T|p.Tyr51Tyr|427/638|153/364|51/120||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000418876|protein_coding|5/6|c.153C>T|p.Tyr51Tyr|452/563|153/264|51/87||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000420242|protein_coding|4/5|c.153C>T|p.Tyr51Tyr|418/525|153/260|51/85||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|CTA-445C9.14|ENSG00000261188|transcript|ENST00000566814|antisense||n.-1G>A|||||2417|,A|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding||c.-3C>T|||||3788|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript||n.-1C>T|||||4015|,A|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000493698|retained_intron||n.-1C>T|||||3408|,A|upstream_gene_variant|MODIFIER|CTA-445C9.14|ENSG00000261188|transcript|ENST00000565764|antisense||n.-1G>A|||||2435|,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000440258|protein_coding||c.*595C>T|||||25|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000464449|retained_intron||n.*589C>T|||||1569|,A|non_coding_exon_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000479489|retained_intron|4/5|n.437C>T||||||,A|non_coding_exon_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000472918|retained_intron|3/4|n.324C>T|||||| 22 26906089 . G C . . ANN=C|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|5/16|c.150C>G|p.Thr50Thr|505/2896|150/2514|50/837||,C|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|4/15|c.150C>G|p.Thr50Thr|434/3586|150/2514|50/837||,C|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|3/14|c.150C>G|p.Thr50Thr|524/2974|150/2514|50/837||,C|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|3/14|c.150C>G|p.Thr50Thr|339/2789|150/2514|50/837||,C|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000455080|protein_coding|5/6|c.150C>G|p.Thr50Thr|424/638|150/364|50/120||WARNING_TRANSCRIPT_INCOMPLETE,C|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000418876|protein_coding|5/6|c.150C>G|p.Thr50Thr|449/563|150/264|50/87||WARNING_TRANSCRIPT_NO_STOP_CODON,C|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000420242|protein_coding|4/5|c.150C>G|p.Thr50Thr|415/525|150/260|50/85||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|TFIP11|ENSG00000100109|region_of_interest:Required_for_interaction_with_DHX15|ENST00000407148|protein_coding|3/14|c.150C>G||||||,C|upstream_gene_variant|MODIFIER|CTA-445C9.14|ENSG00000261188|transcript|ENST00000566814|antisense||n.-1G>C|||||2414|,C|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding||c.-3C>G|||||3791|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript||n.-1C>G|||||4018|,C|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000493698|retained_intron||n.-1C>G|||||3411|,C|upstream_gene_variant|MODIFIER|CTA-445C9.14|ENSG00000261188|transcript|ENST00000565764|antisense||n.-1G>C|||||2432|,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000440258|protein_coding||c.*595C>G|||||22|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000464449|retained_intron||n.*589C>G|||||1566|,C|non_coding_exon_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000479489|retained_intron|4/5|n.434C>G||||||,C|non_coding_exon_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000472918|retained_intron|3/4|n.321C>G|||||| 22 26906159 . G A . . ANN=A|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|5/16|c.80C>T|p.Thr27Ile|435/2896|80/2514|27/837||,A|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|4/15|c.80C>T|p.Thr27Ile|364/3586|80/2514|27/837||,A|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|3/14|c.80C>T|p.Thr27Ile|454/2974|80/2514|27/837||,A|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|3/14|c.80C>T|p.Thr27Ile|269/2789|80/2514|27/837||,A|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000455080|protein_coding|5/6|c.80C>T|p.Thr27Ile|354/638|80/364|27/120||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000418876|protein_coding|5/6|c.80C>T|p.Thr27Ile|379/563|80/264|27/87||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000420242|protein_coding|4/5|c.80C>T|p.Thr27Ile|345/525|80/260|27/85||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000440258|protein_coding|5/5|c.80C>T|p.Thr27Ile|547/595|80/128|27/41||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|TFIP11|ENSG00000100109|region_of_interest:Required_for_interaction_with_DHX15|ENST00000407148|protein_coding|3/14|c.80C>T||||||,A|upstream_gene_variant|MODIFIER|CTA-445C9.14|ENSG00000261188|transcript|ENST00000566814|antisense||n.-1G>A|||||2344|,A|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding||c.-3C>T|||||3861|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript||n.-1C>T|||||4088|,A|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000493698|retained_intron||n.-1C>T|||||3481|,A|upstream_gene_variant|MODIFIER|CTA-445C9.14|ENSG00000261188|transcript|ENST00000565764|antisense||n.-1G>A|||||2362|,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000464449|retained_intron||n.*589C>T|||||1496|,A|non_coding_exon_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000479489|retained_intron|4/5|n.364C>T||||||,A|non_coding_exon_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000472918|retained_intron|3/4|n.251C>T|||||| 22 26906185 . A G . . ANN=G|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|5/16|c.54T>C|p.Asp18Asp|409/2896|54/2514|18/837||,G|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|4/15|c.54T>C|p.Asp18Asp|338/3586|54/2514|18/837||,G|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|3/14|c.54T>C|p.Asp18Asp|428/2974|54/2514|18/837||,G|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|3/14|c.54T>C|p.Asp18Asp|243/2789|54/2514|18/837||,G|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000455080|protein_coding|5/6|c.54T>C|p.Asp18Asp|328/638|54/364|18/120||WARNING_TRANSCRIPT_INCOMPLETE,G|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000418876|protein_coding|5/6|c.54T>C|p.Asp18Asp|353/563|54/264|18/87||WARNING_TRANSCRIPT_NO_STOP_CODON,G|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000420242|protein_coding|4/5|c.54T>C|p.Asp18Asp|319/525|54/260|18/85||WARNING_TRANSCRIPT_INCOMPLETE,G|synonymous_variant|LOW|TFIP11|ENSG00000100109|transcript|ENST00000440258|protein_coding|5/5|c.54T>C|p.Asp18Asp|521/595|54/128|18/41||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|TFIP11|ENSG00000100109|region_of_interest:Required_for_interaction_with_DHX15|ENST00000407148|protein_coding|3/14|c.54T>C||||||,G|sequence_feature|LOW|TFIP11|ENSG00000100109|compositionally_biased_region:Poly-Asp|ENST00000407148|protein_coding|3/14|c.54T>C||||||,G|upstream_gene_variant|MODIFIER|CTA-445C9.14|ENSG00000261188|transcript|ENST00000566814|antisense||n.-1A>G|||||2318|,G|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding||c.-3T>C|||||3887|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript||n.-1T>C|||||4114|,G|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000493698|retained_intron||n.-1T>C|||||3507|,G|upstream_gene_variant|MODIFIER|CTA-445C9.14|ENSG00000261188|transcript|ENST00000565764|antisense||n.-1A>G|||||2336|,G|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000464449|retained_intron||n.*589T>C|||||1470|,G|non_coding_exon_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000479489|retained_intron|4/5|n.338T>C||||||,G|non_coding_exon_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000472918|retained_intron|3/4|n.225T>C|||||| 22 26906216 . C T . . ANN=T|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|5/16|c.23G>A|p.Arg8Gln|378/2896|23/2514|8/837||,T|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|4/15|c.23G>A|p.Arg8Gln|307/3586|23/2514|8/837||,T|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|3/14|c.23G>A|p.Arg8Gln|397/2974|23/2514|8/837||,T|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|3/14|c.23G>A|p.Arg8Gln|212/2789|23/2514|8/837||,T|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000455080|protein_coding|5/6|c.23G>A|p.Arg8Gln|297/638|23/364|8/120||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000418876|protein_coding|5/6|c.23G>A|p.Arg8Gln|322/563|23/264|8/87||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000420242|protein_coding|4/5|c.23G>A|p.Arg8Gln|288/525|23/260|8/85||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000440258|protein_coding|5/5|c.23G>A|p.Arg8Gln|490/595|23/128|8/41||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|TFIP11|ENSG00000100109|region_of_interest:Required_for_interaction_with_DHX15|ENST00000407148|protein_coding|3/14|c.23G>A||||||,T|upstream_gene_variant|MODIFIER|CTA-445C9.14|ENSG00000261188|transcript|ENST00000566814|antisense||n.-1C>T|||||2287|,T|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding||c.-3G>A|||||3918|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript||n.-1G>A|||||4145|,T|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000493698|retained_intron||n.-1G>A|||||3538|,T|upstream_gene_variant|MODIFIER|CTA-445C9.14|ENSG00000261188|transcript|ENST00000565764|antisense||n.-1C>T|||||2305|,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000464449|retained_intron||n.*589G>A|||||1439|,T|non_coding_exon_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000479489|retained_intron|4/5|n.307G>A||||||,T|non_coding_exon_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000472918|retained_intron|3/4|n.194G>A|||||| 22 26924139 . C G . . ANN=G|upstream_gene_variant|MODIFIER|CTA-445C9.15|ENSG00000260065|transcript|ENST00000564772|lincRNA||n.-1G>C|||||3137|,G|intron_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000338754|protein_coding|6/6|c.*7+41G>C||||||,G|intron_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000398110|protein_coding|6/6|c.*7+41G>C||||||,G|intron_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000403880|protein_coding|7/7|c.*7+41G>C|||||| 22 26924142 . G A . . ANN=A|upstream_gene_variant|MODIFIER|CTA-445C9.15|ENSG00000260065|transcript|ENST00000564772|lincRNA||n.-1C>T|||||3140|,A|intron_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000338754|protein_coding|6/6|c.*7+38C>T||||||,A|intron_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000398110|protein_coding|6/6|c.*7+38C>T||||||,A|intron_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000403880|protein_coding|7/7|c.*7+38C>T|||||| 22 26924149 . C T . . ANN=T|upstream_gene_variant|MODIFIER|CTA-445C9.15|ENSG00000260065|transcript|ENST00000564772|lincRNA||n.-1G>A|||||3147|,T|intron_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000338754|protein_coding|6/6|c.*7+31G>A||||||,T|intron_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000398110|protein_coding|6/6|c.*7+31G>A||||||,T|intron_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000403880|protein_coding|7/7|c.*7+31G>A|||||| 22 26924177 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000338754|protein_coding|6/6|c.*7+3A>G||||||,C|splice_region_variant&intron_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000398110|protein_coding|6/6|c.*7+3A>G||||||,C|splice_region_variant&intron_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000403880|protein_coding|7/7|c.*7+3A>G||||||,C|upstream_gene_variant|MODIFIER|CTA-445C9.15|ENSG00000260065|transcript|ENST00000564772|lincRNA||n.-1A>G|||||3175| 22 26928613 . G A . . ANN=A|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|4/7|c.1092+48C>T||||||,A|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|5/7|c.1092+48C>T||||||,A|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|3/7|c.1092+48C>T||||||,A|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|6/7|c.1092+48C>T||||||,A|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000445720|protein_coding||c.*507C>T|||||3248|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000338754|protein_coding|5/6|c.1092+48C>T||||||,A|intron_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000398110|protein_coding|5/6|c.1092+48C>T||||||,A|intron_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000403880|protein_coding|6/7|c.1092+48C>T|||||| 22 26928626 . A G . . ANN=G|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|4/7|c.1092+35T>C||||||,G|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|5/7|c.1092+35T>C||||||,G|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|3/7|c.1092+35T>C||||||,G|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|6/7|c.1092+35T>C||||||,G|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000445720|protein_coding||c.*507T>C|||||3235|WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000338754|protein_coding|5/6|c.1092+35T>C||||||,G|intron_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000398110|protein_coding|5/6|c.1092+35T>C||||||,G|intron_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000403880|protein_coding|6/7|c.1092+35T>C|||||| 22 26928676 . C T . . ANN=T|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000338754|protein_coding|5/7|c.1077G>A|p.Leu359Leu|1348/2188|1077/1134|359/377||,T|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000398110|protein_coding|5/7|c.1077G>A|p.Leu359Leu|1382/1968|1077/1134|359/377||,T|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000403880|protein_coding|6/8|c.1077G>A|p.Leu359Leu|1498/2084|1077/1134|359/377||,T|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|4/7|c.1077G>A||||||,T|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|5/7|c.1077G>A||||||,T|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|3/7|c.1077G>A||||||,T|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|6/7|c.1077G>A||||||,T|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000445720|protein_coding||c.*507G>A|||||3185|WARNING_TRANSCRIPT_NO_START_CODON 22 26932231 . C T . . ANN=T|stop_gained|HIGH|TPST2|ENSG00000128294|transcript|ENST00000445720|protein_coding|2/2|c.305G>A|p.Trp102*|305/675|305/507|102/168||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|4/7|c.1041+23G>A||||||,T|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|5/7|c.1041+23G>A||||||,T|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|3/7|c.1041+23G>A||||||,T|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|6/7|c.1041+23G>A||||||,T|sequence_feature|LOW|TPST2|ENSG00000128294|helix|ENST00000398110|protein_coding|4/7|c.1041+23G>A||||||,T|sequence_feature|LOW|TPST2|ENSG00000128294|helix|ENST00000398110|protein_coding|5/7|c.1041+23G>A||||||,T|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000442495|protein_coding||c.*586G>A|||||4941|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000338754|protein_coding|4/6|c.1041+23G>A||||||,T|intron_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000398110|protein_coding|4/6|c.1041+23G>A||||||,T|intron_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000403880|protein_coding|5/7|c.1041+23G>A|||||| 22 26932305 . G A . . ANN=A|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000338754|protein_coding|4/7|c.990C>T|p.Asn330Asn|1261/2188|990/1134|330/377||,A|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000398110|protein_coding|4/7|c.990C>T|p.Asn330Asn|1295/1968|990/1134|330/377||,A|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000403880|protein_coding|5/8|c.990C>T|p.Asn330Asn|1411/2084|990/1134|330/377||,A|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000445720|protein_coding|2/2|c.231C>T|p.Asn77Asn|231/675|231/507|77/168||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|4/7|c.990C>T||||||,A|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|5/7|c.990C>T||||||,A|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|3/7|c.990C>T||||||,A|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|6/7|c.990C>T||||||,A|sequence_feature|LOW|TPST2|ENSG00000128294|beta_strand|ENST00000398110|protein_coding|4/7|c.990C>T||||||,A|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000442495|protein_coding||c.*586C>T|||||4867|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000454778|protein_coding||c.*582C>T|||||4932|WARNING_TRANSCRIPT_NO_STOP_CODON 22 26932404 . C T . . ANN=T|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000338754|protein_coding|4/7|c.891G>A|p.Ala297Ala|1162/2188|891/1134|297/377||,T|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000398110|protein_coding|4/7|c.891G>A|p.Ala297Ala|1196/1968|891/1134|297/377||,T|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000403880|protein_coding|5/8|c.891G>A|p.Ala297Ala|1312/2084|891/1134|297/377||,T|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000445720|protein_coding|2/2|c.132G>A|p.Ala44Ala|132/675|132/507|44/168||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|4/7|c.891G>A||||||,T|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|5/7|c.891G>A||||||,T|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|3/7|c.891G>A||||||,T|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|6/7|c.891G>A||||||,T|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000442495|protein_coding||c.*586G>A|||||4768|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000454778|protein_coding||c.*582G>A|||||4833|WARNING_TRANSCRIPT_NO_STOP_CODON 22 26936723 . G A . . ANN=A|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|4/7|c.842+32C>T||||||,A|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|5/7|c.842+32C>T||||||,A|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|3/7|c.842+32C>T||||||,A|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|6/7|c.842+32C>T||||||,A|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000442495|protein_coding||c.*586C>T|||||449|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000454778|protein_coding||c.*582C>T|||||514|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000440953|protein_coding||c.*544C>T|||||682|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000453117|protein_coding||c.*514C>T|||||728|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000450022|protein_coding||c.*544C>T|||||733|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000338754|protein_coding|3/6|c.842+32C>T||||||,A|intron_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000398110|protein_coding|3/6|c.842+32C>T||||||,A|intron_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000403880|protein_coding|4/7|c.842+32C>T||||||,A|intron_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000445720|protein_coding|1/1|c.83+32C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 26936724 . T G . . ANN=G|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|4/7|c.842+31A>C||||||,G|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|5/7|c.842+31A>C||||||,G|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|3/7|c.842+31A>C||||||,G|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|6/7|c.842+31A>C||||||,G|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000442495|protein_coding||c.*586A>C|||||448|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000454778|protein_coding||c.*582A>C|||||513|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000440953|protein_coding||c.*544A>C|||||681|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000453117|protein_coding||c.*514A>C|||||727|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000450022|protein_coding||c.*544A>C|||||732|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000338754|protein_coding|3/6|c.842+31A>C||||||,G|intron_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000398110|protein_coding|3/6|c.842+31A>C||||||,G|intron_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000403880|protein_coding|4/7|c.842+31A>C||||||,G|intron_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000445720|protein_coding|1/1|c.83+31A>C||||||WARNING_TRANSCRIPT_NO_START_CODON 22 26936766 . G A . . ANN=A|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000338754|protein_coding|3/7|c.831C>T|p.Val277Val|1102/2188|831/1134|277/377||,A|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000398110|protein_coding|3/7|c.831C>T|p.Val277Val|1136/1968|831/1134|277/377||,A|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000403880|protein_coding|4/8|c.831C>T|p.Val277Val|1252/2084|831/1134|277/377||,A|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000445720|protein_coding|1/2|c.72C>T|p.Val24Val|72/675|72/507|24/168||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|4/7|c.831C>T||||||,A|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|5/7|c.831C>T||||||,A|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|3/7|c.831C>T||||||,A|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|6/7|c.831C>T||||||,A|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000442495|protein_coding||c.*586C>T|||||406|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000454778|protein_coding||c.*582C>T|||||471|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000440953|protein_coding||c.*544C>T|||||639|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000453117|protein_coding||c.*514C>T|||||685|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000450022|protein_coding||c.*544C>T|||||690|WARNING_TRANSCRIPT_NO_STOP_CODON 22 26936804 . G A . . ANN=A|missense_variant|MODERATE|TPST2|ENSG00000128294|transcript|ENST00000338754|protein_coding|3/7|c.793C>T|p.Leu265Phe|1064/2188|793/1134|265/377||,A|missense_variant|MODERATE|TPST2|ENSG00000128294|transcript|ENST00000398110|protein_coding|3/7|c.793C>T|p.Leu265Phe|1098/1968|793/1134|265/377||,A|missense_variant|MODERATE|TPST2|ENSG00000128294|transcript|ENST00000403880|protein_coding|4/8|c.793C>T|p.Leu265Phe|1214/2084|793/1134|265/377||,A|missense_variant|MODERATE|TPST2|ENSG00000128294|transcript|ENST00000445720|protein_coding|1/2|c.34C>T|p.Leu12Phe|34/675|34/507|12/168||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|4/7|c.793C>T||||||,A|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|5/7|c.793C>T||||||,A|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|3/7|c.793C>T||||||,A|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|6/7|c.793C>T||||||,A|sequence_feature|LOW|TPST2|ENSG00000128294|helix|ENST00000398110|protein_coding|3/7|c.793C>T||||||,A|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000442495|protein_coding||c.*586C>T|||||368|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000454778|protein_coding||c.*582C>T|||||433|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000440953|protein_coding||c.*544C>T|||||601|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000453117|protein_coding||c.*514C>T|||||647|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000450022|protein_coding||c.*544C>T|||||652|WARNING_TRANSCRIPT_NO_STOP_CODON 22 26936828 . C T . . ANN=T|missense_variant|MODERATE|TPST2|ENSG00000128294|transcript|ENST00000338754|protein_coding|3/7|c.769G>A|p.Gly257Ser|1040/2188|769/1134|257/377||,T|missense_variant|MODERATE|TPST2|ENSG00000128294|transcript|ENST00000398110|protein_coding|3/7|c.769G>A|p.Gly257Ser|1074/1968|769/1134|257/377||,T|missense_variant|MODERATE|TPST2|ENSG00000128294|transcript|ENST00000403880|protein_coding|4/8|c.769G>A|p.Gly257Ser|1190/2084|769/1134|257/377||,T|missense_variant|MODERATE|TPST2|ENSG00000128294|transcript|ENST00000445720|protein_coding|1/2|c.10G>A|p.Gly4Ser|10/675|10/507|4/168||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|4/7|c.769G>A||||||,T|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|5/7|c.769G>A||||||,T|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|3/7|c.769G>A||||||,T|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|6/7|c.769G>A||||||,T|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000442495|protein_coding||c.*586G>A|||||344|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000454778|protein_coding||c.*582G>A|||||409|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000440953|protein_coding||c.*544G>A|||||577|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000453117|protein_coding||c.*514G>A|||||623|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000450022|protein_coding||c.*544G>A|||||628|WARNING_TRANSCRIPT_NO_STOP_CODON 22 26936889 . C T . . ANN=T|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000338754|protein_coding|3/7|c.708G>A|p.Val236Val|979/2188|708/1134|236/377||,T|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000398110|protein_coding|3/7|c.708G>A|p.Val236Val|1013/1968|708/1134|236/377||,T|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000403880|protein_coding|4/8|c.708G>A|p.Val236Val|1129/2084|708/1134|236/377||,T|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|4/7|c.708G>A||||||,T|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|5/7|c.708G>A||||||,T|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|3/7|c.708G>A||||||,T|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|6/7|c.708G>A||||||,T|sequence_feature|LOW|TPST2|ENSG00000128294|beta_strand|ENST00000398110|protein_coding|3/7|c.708G>A||||||,T|upstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000445720|protein_coding||c.-1G>A|||||52|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000442495|protein_coding||c.*586G>A|||||283|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000454778|protein_coding||c.*582G>A|||||348|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000440953|protein_coding||c.*544G>A|||||516|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000453117|protein_coding||c.*514G>A|||||562|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000450022|protein_coding||c.*544G>A|||||567|WARNING_TRANSCRIPT_NO_STOP_CODON 22 26936897 . G A . . ANN=A|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000338754|protein_coding|3/7|c.700C>T|p.Leu234Leu|971/2188|700/1134|234/377||,A|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000398110|protein_coding|3/7|c.700C>T|p.Leu234Leu|1005/1968|700/1134|234/377||,A|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000403880|protein_coding|4/8|c.700C>T|p.Leu234Leu|1121/2084|700/1134|234/377||,A|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|4/7|c.700C>T||||||,A|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|5/7|c.700C>T||||||,A|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|3/7|c.700C>T||||||,A|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|6/7|c.700C>T||||||,A|sequence_feature|LOW|TPST2|ENSG00000128294|beta_strand|ENST00000398110|protein_coding|3/7|c.700C>T||||||,A|upstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000445720|protein_coding||c.-1C>T|||||60|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000442495|protein_coding||c.*586C>T|||||275|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000454778|protein_coding||c.*582C>T|||||340|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000440953|protein_coding||c.*544C>T|||||508|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000453117|protein_coding||c.*514C>T|||||554|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000450022|protein_coding||c.*544C>T|||||559|WARNING_TRANSCRIPT_NO_STOP_CODON 22 26936928 . G C . . ANN=C|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000338754|protein_coding|3/7|c.669C>G|p.Ala223Ala|940/2188|669/1134|223/377||,C|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000398110|protein_coding|3/7|c.669C>G|p.Ala223Ala|974/1968|669/1134|223/377||,C|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000403880|protein_coding|4/8|c.669C>G|p.Ala223Ala|1090/2084|669/1134|223/377||,C|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|4/7|c.669C>G||||||,C|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|5/7|c.669C>G||||||,C|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|3/7|c.669C>G||||||,C|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|6/7|c.669C>G||||||,C|sequence_feature|LOW|TPST2|ENSG00000128294|helix|ENST00000398110|protein_coding|3/7|c.669C>G||||||,C|upstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000445720|protein_coding||c.-1C>G|||||91|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000442495|protein_coding||c.*586C>G|||||244|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000454778|protein_coding||c.*582C>G|||||309|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000440953|protein_coding||c.*544C>G|||||477|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000453117|protein_coding||c.*514C>G|||||523|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000450022|protein_coding||c.*544C>G|||||528|WARNING_TRANSCRIPT_NO_STOP_CODON 22 26936997 . C T . . ANN=T|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000338754|protein_coding|3/7|c.600G>A|p.Ala200Ala|871/2188|600/1134|200/377||,T|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000398110|protein_coding|3/7|c.600G>A|p.Ala200Ala|905/1968|600/1134|200/377||,T|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000403880|protein_coding|4/8|c.600G>A|p.Ala200Ala|1021/2084|600/1134|200/377||,T|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|4/7|c.600G>A||||||,T|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|5/7|c.600G>A||||||,T|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|3/7|c.600G>A||||||,T|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|6/7|c.600G>A||||||,T|upstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000445720|protein_coding||c.-1G>A|||||160|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000442495|protein_coding||c.*586G>A|||||175|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000454778|protein_coding||c.*582G>A|||||240|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000440953|protein_coding||c.*544G>A|||||408|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000453117|protein_coding||c.*514G>A|||||454|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000450022|protein_coding||c.*544G>A|||||459|WARNING_TRANSCRIPT_NO_STOP_CODON 22 26937033 . G A . . ANN=A|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000338754|protein_coding|3/7|c.564C>T|p.Ser188Ser|835/2188|564/1134|188/377||,A|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000398110|protein_coding|3/7|c.564C>T|p.Ser188Ser|869/1968|564/1134|188/377||,A|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000403880|protein_coding|4/8|c.564C>T|p.Ser188Ser|985/2084|564/1134|188/377||,A|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|4/7|c.564C>T||||||,A|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|5/7|c.564C>T||||||,A|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|3/7|c.564C>T||||||,A|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|6/7|c.564C>T||||||,A|sequence_feature|LOW|TPST2|ENSG00000128294|helix|ENST00000398110|protein_coding|3/7|c.564C>T||||||,A|upstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000445720|protein_coding||c.-1C>T|||||196|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000442495|protein_coding||c.*586C>T|||||139|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000454778|protein_coding||c.*582C>T|||||204|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000440953|protein_coding||c.*544C>T|||||372|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000453117|protein_coding||c.*514C>T|||||418|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000450022|protein_coding||c.*544C>T|||||423|WARNING_TRANSCRIPT_NO_STOP_CODON 22 26937045 . G A . . ANN=A|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000338754|protein_coding|3/7|c.552C>T|p.Asp184Asp|823/2188|552/1134|184/377||,A|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000398110|protein_coding|3/7|c.552C>T|p.Asp184Asp|857/1968|552/1134|184/377||,A|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000403880|protein_coding|4/8|c.552C>T|p.Asp184Asp|973/2084|552/1134|184/377||,A|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|4/7|c.552C>T||||||,A|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|5/7|c.552C>T||||||,A|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|3/7|c.552C>T||||||,A|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|6/7|c.552C>T||||||,A|upstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000445720|protein_coding||c.-1C>T|||||208|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000442495|protein_coding||c.*586C>T|||||127|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000454778|protein_coding||c.*582C>T|||||192|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000440953|protein_coding||c.*544C>T|||||360|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000453117|protein_coding||c.*514C>T|||||406|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000450022|protein_coding||c.*544C>T|||||411|WARNING_TRANSCRIPT_NO_STOP_CODON 22 26937049 . C T . . ANN=T|missense_variant|MODERATE|TPST2|ENSG00000128294|transcript|ENST00000338754|protein_coding|3/7|c.548G>A|p.Arg183Gln|819/2188|548/1134|183/377||,T|missense_variant|MODERATE|TPST2|ENSG00000128294|transcript|ENST00000398110|protein_coding|3/7|c.548G>A|p.Arg183Gln|853/1968|548/1134|183/377||,T|missense_variant|MODERATE|TPST2|ENSG00000128294|transcript|ENST00000403880|protein_coding|4/8|c.548G>A|p.Arg183Gln|969/2084|548/1134|183/377||,T|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|4/7|c.548G>A||||||,T|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|5/7|c.548G>A||||||,T|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|3/7|c.548G>A||||||,T|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|6/7|c.548G>A||||||,T|upstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000445720|protein_coding||c.-1G>A|||||212|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000442495|protein_coding||c.*586G>A|||||123|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000454778|protein_coding||c.*582G>A|||||188|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000440953|protein_coding||c.*544G>A|||||356|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000453117|protein_coding||c.*514G>A|||||402|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000450022|protein_coding||c.*544G>A|||||407|WARNING_TRANSCRIPT_NO_STOP_CODON 22 26937087 . C A . . ANN=A|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000338754|protein_coding|3/7|c.510G>T|p.Ser170Ser|781/2188|510/1134|170/377||,A|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000398110|protein_coding|3/7|c.510G>T|p.Ser170Ser|815/1968|510/1134|170/377||,A|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000403880|protein_coding|4/8|c.510G>T|p.Ser170Ser|931/2084|510/1134|170/377||,A|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|4/7|c.510G>T||||||,A|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|5/7|c.510G>T||||||,A|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|3/7|c.510G>T||||||,A|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|6/7|c.510G>T||||||,A|sequence_feature|LOW|TPST2|ENSG00000128294|helix|ENST00000398110|protein_coding|3/7|c.510G>T||||||,A|upstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000445720|protein_coding||c.-1G>T|||||250|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000442495|protein_coding||c.*586G>T|||||85|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000454778|protein_coding||c.*582G>T|||||150|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000440953|protein_coding||c.*544G>T|||||318|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000453117|protein_coding||c.*514G>T|||||364|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000450022|protein_coding||c.*544G>T|||||369|WARNING_TRANSCRIPT_NO_STOP_CODON 22 26937139 . C T . . ANN=T|missense_variant|MODERATE|TPST2|ENSG00000128294|transcript|ENST00000338754|protein_coding|3/7|c.458G>A|p.Arg153His|729/2188|458/1134|153/377||,T|missense_variant|MODERATE|TPST2|ENSG00000128294|transcript|ENST00000398110|protein_coding|3/7|c.458G>A|p.Arg153His|763/1968|458/1134|153/377||,T|missense_variant|MODERATE|TPST2|ENSG00000128294|transcript|ENST00000403880|protein_coding|4/8|c.458G>A|p.Arg153His|879/2084|458/1134|153/377||,T|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|4/7|c.458G>A||||||,T|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|5/7|c.458G>A||||||,T|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|3/7|c.458G>A||||||,T|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|6/7|c.458G>A||||||,T|sequence_feature|LOW|TPST2|ENSG00000128294|beta_strand|ENST00000398110|protein_coding|3/7|c.458G>A||||||,T|sequence_feature|LOW|TPST2|ENSG00000128294|disulfide_bond|ENST00000398110|protein_coding|3/7|c.458G>A||||||,T|upstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000445720|protein_coding||c.-1G>A|||||302|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000442495|protein_coding||c.*586G>A|||||33|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000454778|protein_coding||c.*582G>A|||||98|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000440953|protein_coding||c.*544G>A|||||266|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000453117|protein_coding||c.*514G>A|||||312|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000450022|protein_coding||c.*544G>A|||||317|WARNING_TRANSCRIPT_NO_STOP_CODON 22 26937198 . C G . . ANN=G|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000338754|protein_coding|3/7|c.399G>C|p.Leu133Leu|670/2188|399/1134|133/377||,G|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000398110|protein_coding|3/7|c.399G>C|p.Leu133Leu|704/1968|399/1134|133/377||,G|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000403880|protein_coding|4/8|c.399G>C|p.Leu133Leu|820/2084|399/1134|133/377||,G|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000442495|protein_coding|2/2|c.399G>C|p.Leu133Leu|560/586|399/425|133/140||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|4/7|c.399G>C||||||,G|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|5/7|c.399G>C||||||,G|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|3/7|c.399G>C||||||,G|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|6/7|c.399G>C||||||,G|sequence_feature|LOW|TPST2|ENSG00000128294|disulfide_bond|ENST00000398110|protein_coding|3/7|c.399G>C||||||,G|sequence_feature|LOW|TPST2|ENSG00000128294|helix|ENST00000398110|protein_coding|3/7|c.399G>C||||||,G|upstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000445720|protein_coding||c.-1G>C|||||361|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000454778|protein_coding||c.*582G>C|||||39|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000440953|protein_coding||c.*544G>C|||||207|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000453117|protein_coding||c.*514G>C|||||253|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000450022|protein_coding||c.*544G>C|||||258|WARNING_TRANSCRIPT_NO_STOP_CODON 22 26937219 . C G . . ANN=G|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000338754|protein_coding|3/7|c.378G>C|p.Ala126Ala|649/2188|378/1134|126/377||,G|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000398110|protein_coding|3/7|c.378G>C|p.Ala126Ala|683/1968|378/1134|126/377||,G|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000403880|protein_coding|4/8|c.378G>C|p.Ala126Ala|799/2084|378/1134|126/377||,G|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000442495|protein_coding|2/2|c.378G>C|p.Ala126Ala|539/586|378/425|126/140||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|4/7|c.378G>C||||||,G|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|5/7|c.378G>C||||||,G|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|3/7|c.378G>C||||||,G|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|6/7|c.378G>C||||||,G|sequence_feature|LOW|TPST2|ENSG00000128294|disulfide_bond|ENST00000398110|protein_coding|3/7|c.378G>C||||||,G|upstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000445720|protein_coding||c.-1G>C|||||382|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000454778|protein_coding||c.*582G>C|||||18|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000440953|protein_coding||c.*544G>C|||||186|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000453117|protein_coding||c.*514G>C|||||232|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000450022|protein_coding||c.*544G>C|||||237|WARNING_TRANSCRIPT_NO_STOP_CODON 22 26937244 . C T . . ANN=T|missense_variant|MODERATE|TPST2|ENSG00000128294|transcript|ENST00000338754|protein_coding|3/7|c.353G>A|p.Arg118His|624/2188|353/1134|118/377||,T|missense_variant|MODERATE|TPST2|ENSG00000128294|transcript|ENST00000398110|protein_coding|3/7|c.353G>A|p.Arg118His|658/1968|353/1134|118/377||,T|missense_variant|MODERATE|TPST2|ENSG00000128294|transcript|ENST00000403880|protein_coding|4/8|c.353G>A|p.Arg118His|774/2084|353/1134|118/377||,T|missense_variant|MODERATE|TPST2|ENSG00000128294|transcript|ENST00000442495|protein_coding|2/2|c.353G>A|p.Arg118His|514/586|353/425|118/140||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TPST2|ENSG00000128294|transcript|ENST00000454778|protein_coding|3/3|c.353G>A|p.Arg118His|575/582|353/360|118/119||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|4/7|c.353G>A||||||,T|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|5/7|c.353G>A||||||,T|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|3/7|c.353G>A||||||,T|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|6/7|c.353G>A||||||,T|sequence_feature|LOW|TPST2|ENSG00000128294|disulfide_bond|ENST00000398110|protein_coding|3/7|c.353G>A||||||,T|sequence_feature|LOW|TPST2|ENSG00000128294|helix|ENST00000398110|protein_coding|3/7|c.353G>A||||||,T|upstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000445720|protein_coding||c.-1G>A|||||407|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000440953|protein_coding||c.*544G>A|||||161|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000453117|protein_coding||c.*514G>A|||||207|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000450022|protein_coding||c.*544G>A|||||212|WARNING_TRANSCRIPT_NO_STOP_CODON 22 26937321 . G A . . ANN=A|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000338754|protein_coding|3/7|c.276C>T|p.Pro92Pro|547/2188|276/1134|92/377||,A|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000398110|protein_coding|3/7|c.276C>T|p.Pro92Pro|581/1968|276/1134|92/377||,A|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000403880|protein_coding|4/8|c.276C>T|p.Pro92Pro|697/2084|276/1134|92/377||,A|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000442495|protein_coding|2/2|c.276C>T|p.Pro92Pro|437/586|276/425|92/140||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000454778|protein_coding|3/3|c.276C>T|p.Pro92Pro|498/582|276/360|92/119||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|4/7|c.276C>T||||||,A|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|5/7|c.276C>T||||||,A|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|3/7|c.276C>T||||||,A|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|6/7|c.276C>T||||||,A|upstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000445720|protein_coding||c.-1C>T|||||484|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000440953|protein_coding||c.*544C>T|||||84|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000453117|protein_coding||c.*514C>T|||||130|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000450022|protein_coding||c.*544C>T|||||135|WARNING_TRANSCRIPT_NO_STOP_CODON 22 26937327 . C G . . ANN=G|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000338754|protein_coding|3/7|c.270G>C|p.Ala90Ala|541/2188|270/1134|90/377||,G|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000398110|protein_coding|3/7|c.270G>C|p.Ala90Ala|575/1968|270/1134|90/377||,G|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000403880|protein_coding|4/8|c.270G>C|p.Ala90Ala|691/2084|270/1134|90/377||,G|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000442495|protein_coding|2/2|c.270G>C|p.Ala90Ala|431/586|270/425|90/140||WARNING_TRANSCRIPT_INCOMPLETE,G|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000454778|protein_coding|3/3|c.270G>C|p.Ala90Ala|492/582|270/360|90/119||WARNING_TRANSCRIPT_NO_STOP_CODON,G|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|4/7|c.270G>C||||||,G|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|5/7|c.270G>C||||||,G|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|3/7|c.270G>C||||||,G|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|6/7|c.270G>C||||||,G|upstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000445720|protein_coding||c.-1G>C|||||490|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000440953|protein_coding||c.*544G>C|||||78|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000453117|protein_coding||c.*514G>C|||||124|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000450022|protein_coding||c.*544G>C|||||129|WARNING_TRANSCRIPT_NO_STOP_CODON 22 26937420 . G A . . ANN=A|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000338754|protein_coding|3/7|c.177C>T|p.His59His|448/2188|177/1134|59/377||,A|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000398110|protein_coding|3/7|c.177C>T|p.His59His|482/1968|177/1134|59/377||,A|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000403880|protein_coding|4/8|c.177C>T|p.His59His|598/2084|177/1134|59/377||,A|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000442495|protein_coding|2/2|c.177C>T|p.His59His|338/586|177/425|59/140||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000454778|protein_coding|3/3|c.177C>T|p.His59His|399/582|177/360|59/119||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000440953|protein_coding|4/4|c.177C>T|p.His59His|529/544|177/192|59/63||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|4/7|c.177C>T||||||,A|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|5/7|c.177C>T||||||,A|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|3/7|c.177C>T||||||,A|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|6/7|c.177C>T||||||,A|upstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000445720|protein_coding||c.-1C>T|||||583|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000453117|protein_coding||c.*514C>T|||||31|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000450022|protein_coding||c.*544C>T|||||36|WARNING_TRANSCRIPT_NO_STOP_CODON 22 26937450 . C T . . ANN=T|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000338754|protein_coding|3/7|c.147G>A|p.Gln49Gln|418/2188|147/1134|49/377||,T|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000398110|protein_coding|3/7|c.147G>A|p.Gln49Gln|452/1968|147/1134|49/377||,T|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000403880|protein_coding|4/8|c.147G>A|p.Gln49Gln|568/2084|147/1134|49/377||,T|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000442495|protein_coding|2/2|c.147G>A|p.Gln49Gln|308/586|147/425|49/140||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000454778|protein_coding|3/3|c.147G>A|p.Gln49Gln|369/582|147/360|49/119||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|TPST2|ENSG00000128294|transcript|ENST00000440953|protein_coding|4/4|c.147G>A|p.Gln49Gln|499/544|147/192|49/63||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|4/7|c.147G>A||||||,T|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|5/7|c.147G>A||||||,T|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|3/7|c.147G>A||||||,T|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|6/7|c.147G>A||||||,T|upstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000445720|protein_coding||c.-1G>A|||||613|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000453117|protein_coding||c.*514G>A|||||1|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000450022|protein_coding||c.*544G>A|||||6|WARNING_TRANSCRIPT_NO_STOP_CODON 22 26995408 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|CRYBB1|ENSG00000100122|transcript|ENST00000215939|protein_coding|6/6|c.*46C>T|||||46|,A|upstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000403880|protein_coding||c.-422C>T|||||2727| 22 26995448 . G T . . ANN=T|3_prime_UTR_variant|MODIFIER|CRYBB1|ENSG00000100122|transcript|ENST00000215939|protein_coding|6/6|c.*6C>A|||||6|,T|upstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000403880|protein_coding||c.-422C>A|||||2767| 22 26995457 . C T . . ANN=T|synonymous_variant|LOW|CRYBB1|ENSG00000100122|transcript|ENST00000215939|protein_coding|6/6|c.756G>A|p.Lys252Lys|887/1102|756/759|252/252||,T|sequence_feature|LOW|CRYBB1|ENSG00000100122|region_of_interest:C-terminal_arm|ENST00000215939|protein_coding|6/6|c.756G>A||||||,T|upstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000403880|protein_coding||c.-422G>A|||||2776| 22 26995462 . G A . . ANN=A|missense_variant|MODERATE|CRYBB1|ENSG00000100122|transcript|ENST00000215939|protein_coding|6/6|c.751C>T|p.Pro251Ser|882/1102|751/759|251/252||,A|sequence_feature|LOW|CRYBB1|ENSG00000100122|region_of_interest:C-terminal_arm|ENST00000215939|protein_coding|6/6|c.751C>T||||||,A|upstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000403880|protein_coding||c.-422C>T|||||2781| 22 26995502 . C T . . ANN=T|stop_gained|HIGH|CRYBB1|ENSG00000100122|transcript|ENST00000215939|protein_coding|6/6|c.711G>A|p.Trp237*|842/1102|711/759|237/252||,T|sequence_feature|LOW|CRYBB1|ENSG00000100122|region_of_interest:C-terminal_arm|ENST00000215939|protein_coding|6/6|c.711G>A||||||,T|upstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000403880|protein_coding||c.-422G>A|||||2821| 22 26995524 . C T . . ANN=T|missense_variant|MODERATE|CRYBB1|ENSG00000100122|transcript|ENST00000215939|protein_coding|6/6|c.689G>A|p.Arg230His|820/1102|689/759|230/252||,T|sequence_feature|LOW|CRYBB1|ENSG00000100122|domain:Beta/gamma_crystallin_'Greek_key'_4|ENST00000215939|protein_coding|5/6|c.689G>A||||||,T|sequence_feature|LOW|CRYBB1|ENSG00000100122|domain:Beta/gamma_crystallin_'Greek_key'_4|ENST00000215939|protein_coding|6/6|c.689G>A||||||,T|sequence_feature|LOW|CRYBB1|ENSG00000100122|beta_strand|ENST00000215939|protein_coding|6/6|c.689G>A||||||,T|upstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000403880|protein_coding||c.-422G>A|||||2843| 22 26995572 . C T . . ANN=T|missense_variant|MODERATE|CRYBB1|ENSG00000100122|transcript|ENST00000215939|protein_coding|6/6|c.641G>A|p.Arg214Gln|772/1102|641/759|214/252||,T|sequence_feature|LOW|CRYBB1|ENSG00000100122|domain:Beta/gamma_crystallin_'Greek_key'_4|ENST00000215939|protein_coding|5/6|c.641G>A||||||,T|sequence_feature|LOW|CRYBB1|ENSG00000100122|domain:Beta/gamma_crystallin_'Greek_key'_4|ENST00000215939|protein_coding|6/6|c.641G>A||||||,T|sequence_feature|LOW|CRYBB1|ENSG00000100122|beta_strand|ENST00000215939|protein_coding|6/6|c.641G>A||||||,T|upstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000403880|protein_coding||c.-422G>A|||||2891| 22 26995640 . G T . . ANN=T|splice_region_variant&intron_variant|LOW|CRYBB1|ENSG00000100122|transcript|ENST00000215939|protein_coding|5/5|c.576-3C>A||||||,T|sequence_feature|LOW|CRYBB1|ENSG00000100122|domain:Beta/gamma_crystallin_'Greek_key'_4|ENST00000215939|protein_coding|5/6|c.576-3C>A||||||,T|sequence_feature|LOW|CRYBB1|ENSG00000100122|domain:Beta/gamma_crystallin_'Greek_key'_4|ENST00000215939|protein_coding|6/6|c.576-3C>A||||||,T|sequence_feature|LOW|CRYBB1|ENSG00000100122|beta_strand|ENST00000215939|protein_coding|5/6|c.576-3C>A||||||,T|sequence_feature|LOW|CRYBB1|ENSG00000100122|beta_strand|ENST00000215939|protein_coding|6/6|c.576-3C>A||||||,T|upstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000403880|protein_coding||c.-422C>A|||||2959| 22 26997863 . G A . . ANN=A|synonymous_variant|LOW|CRYBB1|ENSG00000100122|transcript|ENST00000215939|protein_coding|5/6|c.555C>T|p.Ser185Ser|686/1102|555/759|185/252||,A|sequence_feature|LOW|CRYBB1|ENSG00000100122|beta_strand|ENST00000215939|protein_coding|5/6|c.555C>T||||||,A|sequence_feature|LOW|CRYBB1|ENSG00000100122|beta_strand|ENST00000215939|protein_coding|6/6|c.555C>T||||||,A|sequence_feature|LOW|CRYBB1|ENSG00000100122|domain:Beta/gamma_crystallin_'Greek_key'_3|ENST00000215939|protein_coding|5/6|c.555C>T|||||| 22 26997874 . G A . . ANN=A|missense_variant|MODERATE|CRYBB1|ENSG00000100122|transcript|ENST00000215939|protein_coding|5/6|c.544C>T|p.Arg182Cys|675/1102|544/759|182/252||,A|sequence_feature|LOW|CRYBB1|ENSG00000100122|domain:Beta/gamma_crystallin_'Greek_key'_3|ENST00000215939|protein_coding|5/6|c.544C>T|||||| 22 26998002 . C T . . ANN=T|sequence_feature|LOW|CRYBB1|ENSG00000100122|region_of_interest:Connecting_peptide|ENST00000215939|protein_coding|4/6|c.433-17G>A||||||,T|sequence_feature|LOW|CRYBB1|ENSG00000100122|region_of_interest:Connecting_peptide|ENST00000215939|protein_coding|5/6|c.433-17G>A||||||,T|intron_variant|MODIFIER|CRYBB1|ENSG00000100122|transcript|ENST00000215939|protein_coding|4/5|c.433-17G>A|||||| 22 27003813 . G A . . ANN=A|sequence_feature|LOW|CRYBB1|ENSG00000100122|region_of_interest:Connecting_peptide|ENST00000215939|protein_coding|4/6|c.432+40C>T||||||,A|sequence_feature|LOW|CRYBB1|ENSG00000100122|region_of_interest:Connecting_peptide|ENST00000215939|protein_coding|5/6|c.432+40C>T||||||,A|intron_variant|MODIFIER|CRYBB1|ENSG00000100122|transcript|ENST00000215939|protein_coding|4/5|c.432+40C>T|||||| 22 27003886 . A G . . ANN=G|synonymous_variant|LOW|CRYBB1|ENSG00000100122|transcript|ENST00000215939|protein_coding|4/6|c.399T>C|p.Ser133Ser|530/1102|399/759|133/252||,G|sequence_feature|LOW|CRYBB1|ENSG00000100122|domain:Beta/gamma_crystallin_'Greek_key'_2|ENST00000215939|protein_coding|3/6|c.399T>C||||||,G|sequence_feature|LOW|CRYBB1|ENSG00000100122|domain:Beta/gamma_crystallin_'Greek_key'_2|ENST00000215939|protein_coding|4/6|c.399T>C|||||| 22 27003902 . G A . . ANN=A|missense_variant|MODERATE|CRYBB1|ENSG00000100122|transcript|ENST00000215939|protein_coding|4/6|c.383C>T|p.Ser128Leu|514/1102|383/759|128/252||,A|sequence_feature|LOW|CRYBB1|ENSG00000100122|domain:Beta/gamma_crystallin_'Greek_key'_2|ENST00000215939|protein_coding|3/6|c.383C>T||||||,A|sequence_feature|LOW|CRYBB1|ENSG00000100122|domain:Beta/gamma_crystallin_'Greek_key'_2|ENST00000215939|protein_coding|4/6|c.383C>T|||||| 22 27003957 . G A . . ANN=A|missense_variant|MODERATE|CRYBB1|ENSG00000100122|transcript|ENST00000215939|protein_coding|4/6|c.328C>T|p.Arg110Cys|459/1102|328/759|110/252||,A|sequence_feature|LOW|CRYBB1|ENSG00000100122|domain:Beta/gamma_crystallin_'Greek_key'_2|ENST00000215939|protein_coding|3/6|c.328C>T||||||,A|sequence_feature|LOW|CRYBB1|ENSG00000100122|domain:Beta/gamma_crystallin_'Greek_key'_2|ENST00000215939|protein_coding|4/6|c.328C>T||||||,A|sequence_feature|LOW|CRYBB1|ENSG00000100122|beta_strand|ENST00000215939|protein_coding|4/6|c.328C>T|||||| 22 27004005 . T A . . ANN=A|sequence_feature|LOW|CRYBB1|ENSG00000100122|domain:Beta/gamma_crystallin_'Greek_key'_2|ENST00000215939|protein_coding|3/6|c.300-20A>T||||||,A|sequence_feature|LOW|CRYBB1|ENSG00000100122|domain:Beta/gamma_crystallin_'Greek_key'_2|ENST00000215939|protein_coding|4/6|c.300-20A>T||||||,A|intron_variant|MODIFIER|CRYBB1|ENSG00000100122|transcript|ENST00000215939|protein_coding|3/5|c.300-20A>T|||||| 22 27008020 . G T . . ANN=T|sequence_feature|LOW|CRYBB1|ENSG00000100122|domain:Beta/gamma_crystallin_'Greek_key'_2|ENST00000215939|protein_coding|3/6|c.299+16C>A||||||,T|sequence_feature|LOW|CRYBB1|ENSG00000100122|domain:Beta/gamma_crystallin_'Greek_key'_2|ENST00000215939|protein_coding|4/6|c.299+16C>A||||||,T|intron_variant|MODIFIER|CRYBB1|ENSG00000100122|transcript|ENST00000215939|protein_coding|3/5|c.299+16C>A|||||| 22 27008022 . C T . . ANN=T|sequence_feature|LOW|CRYBB1|ENSG00000100122|domain:Beta/gamma_crystallin_'Greek_key'_2|ENST00000215939|protein_coding|3/6|c.299+14G>A||||||,T|sequence_feature|LOW|CRYBB1|ENSG00000100122|domain:Beta/gamma_crystallin_'Greek_key'_2|ENST00000215939|protein_coding|4/6|c.299+14G>A||||||,T|intron_variant|MODIFIER|CRYBB1|ENSG00000100122|transcript|ENST00000215939|protein_coding|3/5|c.299+14G>A|||||| 22 27008121 . G A . . ANN=A|missense_variant|MODERATE|CRYBB1|ENSG00000100122|transcript|ENST00000215939|protein_coding|3/6|c.214C>T|p.Arg72Cys|345/1102|214/759|72/252||,A|sequence_feature|LOW|CRYBB1|ENSG00000100122|domain:Beta/gamma_crystallin_'Greek_key'_1|ENST00000215939|protein_coding|3/6|c.214C>T||||||,A|sequence_feature|LOW|CRYBB1|ENSG00000100122|domain:Beta/gamma_crystallin_'Greek_key'_1|ENST00000215939|protein_coding|2/6|c.214C>T||||||,A|sequence_feature|LOW|CRYBB1|ENSG00000100122|beta_strand|ENST00000215939|protein_coding|3/6|c.214C>T|||||| 22 27008181 . G A . . ANN=A|sequence_feature|LOW|CRYBB1|ENSG00000100122|domain:Beta/gamma_crystallin_'Greek_key'_1|ENST00000215939|protein_coding|3/6|c.181-27C>T||||||,A|sequence_feature|LOW|CRYBB1|ENSG00000100122|domain:Beta/gamma_crystallin_'Greek_key'_1|ENST00000215939|protein_coding|2/6|c.181-27C>T||||||,A|sequence_feature|LOW|CRYBB1|ENSG00000100122|beta_strand|ENST00000215939|protein_coding|3/6|c.181-27C>T||||||,A|sequence_feature|LOW|CRYBB1|ENSG00000100122|beta_strand|ENST00000215939|protein_coding|2/6|c.181-27C>T||||||,A|intron_variant|MODIFIER|CRYBB1|ENSG00000100122|transcript|ENST00000215939|protein_coding|2/5|c.181-27C>T|||||| 22 27008195 . G C . . ANN=C|sequence_feature|LOW|CRYBB1|ENSG00000100122|domain:Beta/gamma_crystallin_'Greek_key'_1|ENST00000215939|protein_coding|3/6|c.181-41C>G||||||,C|sequence_feature|LOW|CRYBB1|ENSG00000100122|domain:Beta/gamma_crystallin_'Greek_key'_1|ENST00000215939|protein_coding|2/6|c.181-41C>G||||||,C|sequence_feature|LOW|CRYBB1|ENSG00000100122|beta_strand|ENST00000215939|protein_coding|3/6|c.181-41C>G||||||,C|sequence_feature|LOW|CRYBB1|ENSG00000100122|beta_strand|ENST00000215939|protein_coding|2/6|c.181-41C>G||||||,C|intron_variant|MODIFIER|CRYBB1|ENSG00000100122|transcript|ENST00000215939|protein_coding|2/5|c.181-41C>G|||||| 22 27012067 . G A . . ANN=A|sequence_feature|LOW|CRYBB1|ENSG00000100122|domain:Beta/gamma_crystallin_'Greek_key'_1|ENST00000215939|protein_coding|3/6|c.180+37C>T||||||,A|sequence_feature|LOW|CRYBB1|ENSG00000100122|domain:Beta/gamma_crystallin_'Greek_key'_1|ENST00000215939|protein_coding|2/6|c.180+37C>T||||||,A|sequence_feature|LOW|CRYBB1|ENSG00000100122|beta_strand|ENST00000215939|protein_coding|3/6|c.180+37C>T||||||,A|sequence_feature|LOW|CRYBB1|ENSG00000100122|beta_strand|ENST00000215939|protein_coding|2/6|c.180+37C>T||||||,A|intron_variant|MODIFIER|CRYBB1|ENSG00000100122|transcript|ENST00000215939|protein_coding|2/5|c.180+37C>T|||||| 22 27012128 . C T . . ANN=T|synonymous_variant|LOW|CRYBB1|ENSG00000100122|transcript|ENST00000215939|protein_coding|2/6|c.156G>A|p.Ala52Ala|287/1102|156/759|52/252||,T|sequence_feature|LOW|CRYBB1|ENSG00000100122|region_of_interest:N-terminal_arm|ENST00000215939|protein_coding|2/6|c.156G>A|||||| 22 27012132 . G T . . ANN=T|missense_variant|MODERATE|CRYBB1|ENSG00000100122|transcript|ENST00000215939|protein_coding|2/6|c.152C>A|p.Ala51Glu|283/1102|152/759|51/252||,T|sequence_feature|LOW|CRYBB1|ENSG00000100122|region_of_interest:N-terminal_arm|ENST00000215939|protein_coding|2/6|c.152C>A|||||| 22 27012210 . C T . . ANN=T|missense_variant|MODERATE|CRYBB1|ENSG00000100122|transcript|ENST00000215939|protein_coding|2/6|c.74G>A|p.Gly25Glu|205/1102|74/759|25/252||,T|sequence_feature|LOW|CRYBB1|ENSG00000100122|region_of_interest:N-terminal_arm|ENST00000215939|protein_coding|2/6|c.74G>A|||||| 22 27012289 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|CRYBB1|ENSG00000100122|transcript|ENST00000215939|protein_coding|2/6|c.-6G>A|||||6| 22 27018631 . G C . . ANN=C|sequence_feature|LOW|CRYBA4|ENSG00000196431|domain:Beta/gamma_crystallin_'Greek_key'_1|ENST00000354760|protein_coding|2/6|c.39+32G>C||||||,C|sequence_feature|LOW|CRYBA4|ENSG00000196431|domain:Beta/gamma_crystallin_'Greek_key'_1|ENST00000354760|protein_coding|3/6|c.39+32G>C||||||,C|sequence_feature|LOW|CRYBA4|ENSG00000196431|beta_strand|ENST00000354760|protein_coding|2/6|c.39+32G>C||||||,C|sequence_feature|LOW|CRYBA4|ENSG00000196431|beta_strand|ENST00000354760|protein_coding|3/6|c.39+32G>C||||||,C|upstream_gene_variant|MODIFIER|CRYBB1|ENSG00000100122|transcript|ENST00000215939|protein_coding||c.-132C>G|||||4579|,C|intron_variant|MODIFIER|CRYBA4|ENSG00000196431|transcript|ENST00000354760|protein_coding|2/5|c.39+32G>C||||||,C|intron_variant|MODIFIER|CRYBA4|ENSG00000196431|transcript|ENST00000466315|processed_transcript|2/4|n.55+32G>C|||||| 22 27019154 . G A . . ANN=A|sequence_feature|LOW|CRYBA4|ENSG00000196431|domain:Beta/gamma_crystallin_'Greek_key'_1|ENST00000354760|protein_coding|2/6|c.40-44G>A||||||,A|sequence_feature|LOW|CRYBA4|ENSG00000196431|domain:Beta/gamma_crystallin_'Greek_key'_1|ENST00000354760|protein_coding|3/6|c.40-44G>A||||||,A|sequence_feature|LOW|CRYBA4|ENSG00000196431|beta_strand|ENST00000354760|protein_coding|2/6|c.40-44G>A||||||,A|sequence_feature|LOW|CRYBA4|ENSG00000196431|beta_strand|ENST00000354760|protein_coding|3/6|c.40-44G>A||||||,A|intron_variant|MODIFIER|CRYBA4|ENSG00000196431|transcript|ENST00000354760|protein_coding|2/5|c.40-44G>A||||||,A|intron_variant|MODIFIER|CRYBA4|ENSG00000196431|transcript|ENST00000466315|processed_transcript|2/4|n.55+555G>A|||||| 22 27019197 . G C . . ANN=C|splice_acceptor_variant&intron_variant|HIGH|CRYBA4|ENSG00000196431|transcript|ENST00000354760|protein_coding|2/5|c.40-1G>C||||||,C|sequence_feature|LOW|CRYBA4|ENSG00000196431|domain:Beta/gamma_crystallin_'Greek_key'_1|ENST00000354760|protein_coding|2/6|c.40-1G>C||||||,C|sequence_feature|LOW|CRYBA4|ENSG00000196431|domain:Beta/gamma_crystallin_'Greek_key'_1|ENST00000354760|protein_coding|3/6|c.40-1G>C||||||,C|sequence_feature|LOW|CRYBA4|ENSG00000196431|beta_strand|ENST00000354760|protein_coding|2/6|c.40-1G>C||||||,C|sequence_feature|LOW|CRYBA4|ENSG00000196431|beta_strand|ENST00000354760|protein_coding|3/6|c.40-1G>C||||||,C|intron_variant|MODIFIER|CRYBA4|ENSG00000196431|transcript|ENST00000466315|processed_transcript|2/4|n.55+598G>C||||||;LOF=(CRYBA4|ENSG00000196431|2|0.50) 22 27019219 . G A . . ANN=A|missense_variant|MODERATE|CRYBA4|ENSG00000196431|transcript|ENST00000354760|protein_coding|3/6|c.61G>A|p.Gly21Ser|96/811|61/591|21/196||,A|sequence_feature|LOW|CRYBA4|ENSG00000196431|domain:Beta/gamma_crystallin_'Greek_key'_1|ENST00000354760|protein_coding|2/6|c.61G>A||||||,A|sequence_feature|LOW|CRYBA4|ENSG00000196431|domain:Beta/gamma_crystallin_'Greek_key'_1|ENST00000354760|protein_coding|3/6|c.61G>A||||||,A|sequence_feature|LOW|CRYBA4|ENSG00000196431|helix|ENST00000354760|protein_coding|3/6|c.61G>A||||||,A|intron_variant|MODIFIER|CRYBA4|ENSG00000196431|transcript|ENST00000466315|processed_transcript|2/4|n.55+620G>A|||||| 22 27019225 . C T . . ANN=T|stop_gained|HIGH|CRYBA4|ENSG00000196431|transcript|ENST00000354760|protein_coding|3/6|c.67C>T|p.Gln23*|102/811|67/591|23/196||,T|sequence_feature|LOW|CRYBA4|ENSG00000196431|domain:Beta/gamma_crystallin_'Greek_key'_1|ENST00000354760|protein_coding|2/6|c.67C>T||||||,T|sequence_feature|LOW|CRYBA4|ENSG00000196431|domain:Beta/gamma_crystallin_'Greek_key'_1|ENST00000354760|protein_coding|3/6|c.67C>T||||||,T|sequence_feature|LOW|CRYBA4|ENSG00000196431|beta_strand|ENST00000354760|protein_coding|3/6|c.67C>T||||||,T|intron_variant|MODIFIER|CRYBA4|ENSG00000196431|transcript|ENST00000466315|processed_transcript|2/4|n.55+626C>T||||||;LOF=(CRYBA4|ENSG00000196431|2|0.50);NMD=(CRYBA4|ENSG00000196431|2|0.50) 22 27019235 . G A . . ANN=A|missense_variant|MODERATE|CRYBA4|ENSG00000196431|transcript|ENST00000354760|protein_coding|3/6|c.77G>A|p.Arg26Gln|112/811|77/591|26/196||,A|sequence_feature|LOW|CRYBA4|ENSG00000196431|domain:Beta/gamma_crystallin_'Greek_key'_1|ENST00000354760|protein_coding|2/6|c.77G>A||||||,A|sequence_feature|LOW|CRYBA4|ENSG00000196431|domain:Beta/gamma_crystallin_'Greek_key'_1|ENST00000354760|protein_coding|3/6|c.77G>A||||||,A|sequence_feature|LOW|CRYBA4|ENSG00000196431|beta_strand|ENST00000354760|protein_coding|3/6|c.77G>A||||||,A|intron_variant|MODIFIER|CRYBA4|ENSG00000196431|transcript|ENST00000466315|processed_transcript|2/4|n.55+636G>A|||||| 22 27019264 . G A . . ANN=A|missense_variant|MODERATE|CRYBA4|ENSG00000196431|transcript|ENST00000354760|protein_coding|3/6|c.106G>A|p.Val36Met|141/811|106/591|36/196||,A|sequence_feature|LOW|CRYBA4|ENSG00000196431|domain:Beta/gamma_crystallin_'Greek_key'_1|ENST00000354760|protein_coding|2/6|c.106G>A||||||,A|sequence_feature|LOW|CRYBA4|ENSG00000196431|domain:Beta/gamma_crystallin_'Greek_key'_1|ENST00000354760|protein_coding|3/6|c.106G>A||||||,A|sequence_feature|LOW|CRYBA4|ENSG00000196431|helix|ENST00000354760|protein_coding|3/6|c.106G>A||||||,A|intron_variant|MODIFIER|CRYBA4|ENSG00000196431|transcript|ENST00000466315|processed_transcript|2/4|n.55+665G>A|||||| 22 27021401 . G A . . ANN=A|sequence_feature|LOW|CRYBA4|ENSG00000196431|domain:Beta/gamma_crystallin_'Greek_key'_2|ENST00000354760|protein_coding|4/6|c.159-44G>A||||||,A|sequence_feature|LOW|CRYBA4|ENSG00000196431|domain:Beta/gamma_crystallin_'Greek_key'_2|ENST00000354760|protein_coding|3/6|c.159-44G>A||||||,A|intron_variant|MODIFIER|CRYBA4|ENSG00000196431|transcript|ENST00000354760|protein_coding|3/5|c.159-44G>A||||||,A|intron_variant|MODIFIER|CRYBA4|ENSG00000196431|transcript|ENST00000466315|processed_transcript|2/4|n.56-44G>A|||||| 22 27021409 . C T . . ANN=T|sequence_feature|LOW|CRYBA4|ENSG00000196431|domain:Beta/gamma_crystallin_'Greek_key'_2|ENST00000354760|protein_coding|4/6|c.159-36C>T||||||,T|sequence_feature|LOW|CRYBA4|ENSG00000196431|domain:Beta/gamma_crystallin_'Greek_key'_2|ENST00000354760|protein_coding|3/6|c.159-36C>T||||||,T|intron_variant|MODIFIER|CRYBA4|ENSG00000196431|transcript|ENST00000354760|protein_coding|3/5|c.159-36C>T||||||,T|intron_variant|MODIFIER|CRYBA4|ENSG00000196431|transcript|ENST00000466315|processed_transcript|2/4|n.56-36C>T|||||| 22 27021425 . A G . . ANN=G|sequence_feature|LOW|CRYBA4|ENSG00000196431|domain:Beta/gamma_crystallin_'Greek_key'_2|ENST00000354760|protein_coding|4/6|c.159-20A>G||||||,G|sequence_feature|LOW|CRYBA4|ENSG00000196431|domain:Beta/gamma_crystallin_'Greek_key'_2|ENST00000354760|protein_coding|3/6|c.159-20A>G||||||,G|intron_variant|MODIFIER|CRYBA4|ENSG00000196431|transcript|ENST00000354760|protein_coding|3/5|c.159-20A>G||||||,G|intron_variant|MODIFIER|CRYBA4|ENSG00000196431|transcript|ENST00000466315|processed_transcript|2/4|n.56-20A>G|||||| 22 27021457 . T C . . ANN=C|synonymous_variant|LOW|CRYBA4|ENSG00000196431|transcript|ENST00000354760|protein_coding|4/6|c.171T>C|p.Phe57Phe|206/811|171/591|57/196||,C|sequence_feature|LOW|CRYBA4|ENSG00000196431|domain:Beta/gamma_crystallin_'Greek_key'_2|ENST00000354760|protein_coding|4/6|c.171T>C||||||,C|sequence_feature|LOW|CRYBA4|ENSG00000196431|domain:Beta/gamma_crystallin_'Greek_key'_2|ENST00000354760|protein_coding|3/6|c.171T>C||||||,C|sequence_feature|LOW|CRYBA4|ENSG00000196431|beta_strand|ENST00000354760|protein_coding|4/6|c.171T>C||||||,C|non_coding_exon_variant|MODIFIER|CRYBA4|ENSG00000196431|transcript|ENST00000466315|processed_transcript|3/5|n.68T>C|||||| 22 27021502 . C T . . ANN=T|synonymous_variant|LOW|CRYBA4|ENSG00000196431|transcript|ENST00000354760|protein_coding|4/6|c.216C>T|p.Gly72Gly|251/811|216/591|72/196||,T|sequence_feature|LOW|CRYBA4|ENSG00000196431|domain:Beta/gamma_crystallin_'Greek_key'_2|ENST00000354760|protein_coding|4/6|c.216C>T||||||,T|sequence_feature|LOW|CRYBA4|ENSG00000196431|domain:Beta/gamma_crystallin_'Greek_key'_2|ENST00000354760|protein_coding|3/6|c.216C>T||||||,T|sequence_feature|LOW|CRYBA4|ENSG00000196431|beta_strand|ENST00000354760|protein_coding|4/6|c.216C>T||||||,T|non_coding_exon_variant|MODIFIER|CRYBA4|ENSG00000196431|transcript|ENST00000466315|processed_transcript|3/5|n.113C>T|||||| 22 27021508 . T C . . ANN=C|synonymous_variant|LOW|CRYBA4|ENSG00000196431|transcript|ENST00000354760|protein_coding|4/6|c.222T>C|p.Tyr74Tyr|257/811|222/591|74/196||,C|sequence_feature|LOW|CRYBA4|ENSG00000196431|domain:Beta/gamma_crystallin_'Greek_key'_2|ENST00000354760|protein_coding|4/6|c.222T>C||||||,C|sequence_feature|LOW|CRYBA4|ENSG00000196431|domain:Beta/gamma_crystallin_'Greek_key'_2|ENST00000354760|protein_coding|3/6|c.222T>C||||||,C|sequence_feature|LOW|CRYBA4|ENSG00000196431|beta_strand|ENST00000354760|protein_coding|4/6|c.222T>C||||||,C|non_coding_exon_variant|MODIFIER|CRYBA4|ENSG00000196431|transcript|ENST00000466315|processed_transcript|3/5|n.119T>C|||||| 22 27021589 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|CRYBA4|ENSG00000196431|transcript|ENST00000354760|protein_coding|4/5|c.300+3A>G||||||,G|splice_region_variant&intron_variant|LOW|CRYBA4|ENSG00000196431|transcript|ENST00000466315|processed_transcript|3/4|n.197+3A>G||||||,G|sequence_feature|LOW|CRYBA4|ENSG00000196431|region_of_interest:Connecting_peptide|ENST00000354760|protein_coding|5/6|c.300+3A>G||||||,G|sequence_feature|LOW|CRYBA4|ENSG00000196431|region_of_interest:Connecting_peptide|ENST00000354760|protein_coding|4/6|c.300+3A>G|||||| 22 27021611 . C A . . ANN=A|sequence_feature|LOW|CRYBA4|ENSG00000196431|region_of_interest:Connecting_peptide|ENST00000354760|protein_coding|5/6|c.300+25C>A||||||,A|sequence_feature|LOW|CRYBA4|ENSG00000196431|region_of_interest:Connecting_peptide|ENST00000354760|protein_coding|4/6|c.300+25C>A||||||,A|intron_variant|MODIFIER|CRYBA4|ENSG00000196431|transcript|ENST00000354760|protein_coding|4/5|c.300+25C>A||||||,A|intron_variant|MODIFIER|CRYBA4|ENSG00000196431|transcript|ENST00000466315|processed_transcript|3/4|n.197+25C>A|||||| 22 27021614 . G A . . ANN=A|sequence_feature|LOW|CRYBA4|ENSG00000196431|region_of_interest:Connecting_peptide|ENST00000354760|protein_coding|5/6|c.300+28G>A||||||,A|sequence_feature|LOW|CRYBA4|ENSG00000196431|region_of_interest:Connecting_peptide|ENST00000354760|protein_coding|4/6|c.300+28G>A||||||,A|intron_variant|MODIFIER|CRYBA4|ENSG00000196431|transcript|ENST00000354760|protein_coding|4/5|c.300+28G>A||||||,A|intron_variant|MODIFIER|CRYBA4|ENSG00000196431|transcript|ENST00000466315|processed_transcript|3/4|n.197+28G>A|||||| 22 27024258 . C T . . ANN=T|missense_variant|MODERATE|CRYBA4|ENSG00000196431|transcript|ENST00000354760|protein_coding|5/6|c.307C>T|p.Arg103Cys|342/811|307/591|103/196||,T|sequence_feature|LOW|CRYBA4|ENSG00000196431|region_of_interest:Connecting_peptide|ENST00000354760|protein_coding|5/6|c.307C>T||||||,T|sequence_feature|LOW|CRYBA4|ENSG00000196431|region_of_interest:Connecting_peptide|ENST00000354760|protein_coding|4/6|c.307C>T||||||,T|sequence_feature|LOW|CRYBA4|ENSG00000196431|helix|ENST00000354760|protein_coding|5/6|c.307C>T||||||,T|non_coding_exon_variant|MODIFIER|CRYBA4|ENSG00000196431|transcript|ENST00000466315|processed_transcript|4/5|n.204C>T|||||| 22 27024275 . A T . . ANN=T|synonymous_variant|LOW|CRYBA4|ENSG00000196431|transcript|ENST00000354760|protein_coding|5/6|c.324A>T|p.Thr108Thr|359/811|324/591|108/196||,T|sequence_feature|LOW|CRYBA4|ENSG00000196431|domain:Beta/gamma_crystallin_'Greek_key'_3|ENST00000354760|protein_coding|5/6|c.324A>T||||||,T|sequence_feature|LOW|CRYBA4|ENSG00000196431|beta_strand|ENST00000354760|protein_coding|5/6|c.324A>T||||||,T|non_coding_exon_variant|MODIFIER|CRYBA4|ENSG00000196431|transcript|ENST00000466315|processed_transcript|4/5|n.221A>T|||||| 22 27024296 . C T . . ANN=T|synonymous_variant|LOW|CRYBA4|ENSG00000196431|transcript|ENST00000354760|protein_coding|5/6|c.345C>T|p.Phe115Phe|380/811|345/591|115/196||,T|sequence_feature|LOW|CRYBA4|ENSG00000196431|domain:Beta/gamma_crystallin_'Greek_key'_3|ENST00000354760|protein_coding|5/6|c.345C>T||||||,T|non_coding_exon_variant|MODIFIER|CRYBA4|ENSG00000196431|transcript|ENST00000466315|processed_transcript|4/5|n.242C>T|||||| 22 27024442 . G C . . ANN=C|sequence_feature|LOW|CRYBA4|ENSG00000196431|beta_strand|ENST00000354760|protein_coding|5/6|c.443+48G>C||||||,C|sequence_feature|LOW|CRYBA4|ENSG00000196431|beta_strand|ENST00000354760|protein_coding|6/6|c.443+48G>C||||||,C|sequence_feature|LOW|CRYBA4|ENSG00000196431|domain:Beta/gamma_crystallin_'Greek_key'_4|ENST00000354760|protein_coding|5/6|c.443+48G>C||||||,C|sequence_feature|LOW|CRYBA4|ENSG00000196431|domain:Beta/gamma_crystallin_'Greek_key'_4|ENST00000354760|protein_coding|6/6|c.443+48G>C||||||,C|intron_variant|MODIFIER|CRYBA4|ENSG00000196431|transcript|ENST00000354760|protein_coding|5/5|c.443+48G>C||||||,C|intron_variant|MODIFIER|CRYBA4|ENSG00000196431|transcript|ENST00000466315|processed_transcript|4/4|n.340+48G>C|||||| 22 27026286 . G A . . ANN=A|sequence_feature|LOW|CRYBA4|ENSG00000196431|beta_strand|ENST00000354760|protein_coding|5/6|c.444-18G>A||||||,A|sequence_feature|LOW|CRYBA4|ENSG00000196431|beta_strand|ENST00000354760|protein_coding|6/6|c.444-18G>A||||||,A|sequence_feature|LOW|CRYBA4|ENSG00000196431|domain:Beta/gamma_crystallin_'Greek_key'_4|ENST00000354760|protein_coding|5/6|c.444-18G>A||||||,A|sequence_feature|LOW|CRYBA4|ENSG00000196431|domain:Beta/gamma_crystallin_'Greek_key'_4|ENST00000354760|protein_coding|6/6|c.444-18G>A||||||,A|intron_variant|MODIFIER|CRYBA4|ENSG00000196431|transcript|ENST00000354760|protein_coding|5/5|c.444-18G>A||||||,A|intron_variant|MODIFIER|CRYBA4|ENSG00000196431|transcript|ENST00000466315|processed_transcript|4/4|n.341-18G>A|||||| 22 27026290 . T C . . ANN=C|sequence_feature|LOW|CRYBA4|ENSG00000196431|beta_strand|ENST00000354760|protein_coding|5/6|c.444-14T>C||||||,C|sequence_feature|LOW|CRYBA4|ENSG00000196431|beta_strand|ENST00000354760|protein_coding|6/6|c.444-14T>C||||||,C|sequence_feature|LOW|CRYBA4|ENSG00000196431|domain:Beta/gamma_crystallin_'Greek_key'_4|ENST00000354760|protein_coding|5/6|c.444-14T>C||||||,C|sequence_feature|LOW|CRYBA4|ENSG00000196431|domain:Beta/gamma_crystallin_'Greek_key'_4|ENST00000354760|protein_coding|6/6|c.444-14T>C||||||,C|intron_variant|MODIFIER|CRYBA4|ENSG00000196431|transcript|ENST00000354760|protein_coding|5/5|c.444-14T>C||||||,C|intron_variant|MODIFIER|CRYBA4|ENSG00000196431|transcript|ENST00000466315|processed_transcript|4/4|n.341-14T>C|||||| 22 27026325 . G A . . ANN=A|synonymous_variant|LOW|CRYBA4|ENSG00000196431|transcript|ENST00000354760|protein_coding|6/6|c.465G>A|p.Pro155Pro|500/811|465/591|155/196||,A|sequence_feature|LOW|CRYBA4|ENSG00000196431|domain:Beta/gamma_crystallin_'Greek_key'_4|ENST00000354760|protein_coding|5/6|c.465G>A||||||,A|sequence_feature|LOW|CRYBA4|ENSG00000196431|domain:Beta/gamma_crystallin_'Greek_key'_4|ENST00000354760|protein_coding|6/6|c.465G>A||||||,A|sequence_feature|LOW|CRYBA4|ENSG00000196431|turn|ENST00000354760|protein_coding|6/6|c.465G>A||||||,A|non_coding_exon_variant|MODIFIER|CRYBA4|ENSG00000196431|transcript|ENST00000466315|processed_transcript|5/5|n.362G>A|||||| 22 27026487 . A G . . ANN=G|3_prime_UTR_variant|MODIFIER|CRYBA4|ENSG00000196431|transcript|ENST00000354760|protein_coding|6/6|c.*36A>G|||||36|,G|non_coding_exon_variant|MODIFIER|CRYBA4|ENSG00000196431|transcript|ENST00000466315|processed_transcript|5/5|n.524A>G|||||| 22 28146947 . C T . . ANN=T|missense_variant|MODERATE|MN1|ENSG00000169184|transcript|ENST00000302326|protein_coding|2/2|c.3919G>A|p.Asp1307Asn|4874/7556|3919/3963|1307/1320||,T|non_coding_exon_variant|MODIFIER|MN1|ENSG00000169184|transcript|ENST00000424656|nonsense_mediated_decay|2/3|n.271G>A||||||,T|non_coding_exon_variant|MODIFIER|MN1|ENSG00000169184|transcript|ENST00000497225|processed_transcript|2/2|n.275G>A|||||| 22 28192719 . G T . . ANN=T|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|transcript|ENST00000497225|processed_transcript||n.-1C>A|||||4848|,T|intron_variant|MODIFIER|MN1|ENSG00000169184|transcript|ENST00000302326|protein_coding|1/1|c.3781+32C>A||||||,T|intron_variant|MODIFIER|MN1|ENSG00000169184|transcript|ENST00000424656|nonsense_mediated_decay|1/2|n.133+32C>A|||||| 22 28192805 . TGTC T . . ANN=|inframe_deletion|MODERATE|MN1|ENSG00000169184|transcript|ENST00000302326|protein_coding|1/2|c.3724_3726delGAC|p.Asp1242del|4681/7556|3724/3963|1242/1320||,|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|transcript|ENST00000497225|processed_transcript||n.-1_-1delGAC|||||4935|,|non_coding_exon_variant|MODIFIER|MN1|ENSG00000169184|transcript|ENST00000424656|nonsense_mediated_decay|1/3|n.76_78delGAC|||||| 22 28192982 . C G . . ANN=G|missense_variant|MODERATE|MN1|ENSG00000169184|transcript|ENST00000302326|protein_coding|1/2|c.3550G>C|p.Glu1184Gln|4505/7556|3550/3963|1184/1320||,G|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|transcript|ENST00000424656|nonsense_mediated_decay||n.-2G>C|||||98| 22 28193097 . C T . . ANN=T|synonymous_variant|LOW|MN1|ENSG00000169184|transcript|ENST00000302326|protein_coding|1/2|c.3435G>A|p.Pro1145Pro|4390/7556|3435/3963|1145/1320||,T|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|transcript|ENST00000424656|nonsense_mediated_decay||n.-2G>A|||||213| 22 28193245 . G A . . ANN=A|missense_variant|MODERATE|MN1|ENSG00000169184|transcript|ENST00000302326|protein_coding|1/2|c.3287C>T|p.Pro1096Leu|4242/7556|3287/3963|1096/1320||,A|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|transcript|ENST00000424656|nonsense_mediated_decay||n.-2C>T|||||361| 22 28193262 . G A . . ANN=A|synonymous_variant|LOW|MN1|ENSG00000169184|transcript|ENST00000302326|protein_coding|1/2|c.3270C>T|p.Gly1090Gly|4225/7556|3270/3963|1090/1320||,A|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|transcript|ENST00000424656|nonsense_mediated_decay||n.-2C>T|||||378| 22 28193448 . C T . . ANN=T|synonymous_variant|LOW|MN1|ENSG00000169184|transcript|ENST00000302326|protein_coding|1/2|c.3084G>A|p.Leu1028Leu|4039/7556|3084/3963|1028/1320||,T|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|transcript|ENST00000424656|nonsense_mediated_decay||n.-2G>A|||||564| 22 28193458 . A G . . ANN=G|missense_variant|MODERATE|MN1|ENSG00000169184|transcript|ENST00000302326|protein_coding|1/2|c.3074T>C|p.Ile1025Thr|4029/7556|3074/3963|1025/1320||,G|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|transcript|ENST00000424656|nonsense_mediated_decay||n.-2T>C|||||574| 22 28193591 . C A . . ANN=A|missense_variant|MODERATE|MN1|ENSG00000169184|transcript|ENST00000302326|protein_coding|1/2|c.2941G>T|p.Ala981Ser|3896/7556|2941/3963|981/1320||,A|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|transcript|ENST00000424656|nonsense_mediated_decay||n.-2G>T|||||707| 22 28193715 . G A . . ANN=A|synonymous_variant|LOW|MN1|ENSG00000169184|transcript|ENST00000302326|protein_coding|1/2|c.2817C>T|p.Gly939Gly|3772/7556|2817/3963|939/1320||,A|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|transcript|ENST00000424656|nonsense_mediated_decay||n.-2C>T|||||831| 22 28194663 . C A . . ANN=A|synonymous_variant|LOW|MN1|ENSG00000169184|transcript|ENST00000302326|protein_coding|1/2|c.1869G>T|p.Pro623Pro|2824/7556|1869/3963|623/1320||,A|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|transcript|ENST00000424656|nonsense_mediated_decay||n.-2G>T|||||1779| 22 28194747 . C T . . ANN=T|synonymous_variant|LOW|MN1|ENSG00000169184|transcript|ENST00000302326|protein_coding|1/2|c.1785G>A|p.Val595Val|2740/7556|1785/3963|595/1320||,T|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|transcript|ENST00000424656|nonsense_mediated_decay||n.-2G>A|||||1863| 22 28194880 . CGCT C . . ANN=|disruptive_inframe_deletion|MODERATE|MN1|ENSG00000169184|transcript|ENST00000302326|protein_coding|1/2|c.1649_1651delAGC|p.Gln550del|2606/7556|1649/3963|550/1320||,|sequence_feature|LOW|MN1|ENSG00000169184|compositionally_biased_region:Poly-Gln|ENST00000302326|protein_coding|1/2|c.1649_1651delAGC||||||,|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|transcript|ENST00000424656|nonsense_mediated_decay||n.-2_-2delAGC|||||1997| 22 28194933 . TTGC T . . ANN=|disruptive_inframe_deletion|MODERATE|MN1|ENSG00000169184|transcript|ENST00000302326|protein_coding|1/2|c.1596_1598delGCA|p.Gln533del|2553/7556|1596/3963|532/1320||,|sequence_feature|LOW|MN1|ENSG00000169184|compositionally_biased_region:Poly-Gln|ENST00000302326|protein_coding|1/2|c.1596_1598delGCA||||||,|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|transcript|ENST00000424656|nonsense_mediated_decay||n.-2_-2delGCA|||||2050| 22 28195186 . G C . . ANN=C|missense_variant|MODERATE|MN1|ENSG00000169184|transcript|ENST00000302326|protein_coding|1/2|c.1346C>G|p.Pro449Arg|2301/7556|1346/3963|449/1320||,C|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|transcript|ENST00000424656|nonsense_mediated_decay||n.-2C>G|||||2302| 22 28195332 . C T . . ANN=T|synonymous_variant|LOW|MN1|ENSG00000169184|transcript|ENST00000302326|protein_coding|1/2|c.1200G>A|p.Leu400Leu|2155/7556|1200/3963|400/1320||,T|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|transcript|ENST00000424656|nonsense_mediated_decay||n.-2G>A|||||2448| 22 28195386 . C A . . ANN=A|missense_variant|MODERATE|MN1|ENSG00000169184|transcript|ENST00000302326|protein_coding|1/2|c.1146G>T|p.Gln382His|2101/7556|1146/3963|382/1320||,A|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|transcript|ENST00000424656|nonsense_mediated_decay||n.-2G>T|||||2502| 22 28195473 . C T . . ANN=T|synonymous_variant|LOW|MN1|ENSG00000169184|transcript|ENST00000302326|protein_coding|1/2|c.1059G>A|p.Pro353Pro|2014/7556|1059/3963|353/1320||,T|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|transcript|ENST00000424656|nonsense_mediated_decay||n.-2G>A|||||2589| 22 28195715 . C A . . ANN=A|missense_variant|MODERATE|MN1|ENSG00000169184|transcript|ENST00000302326|protein_coding|1/2|c.817G>T|p.Ala273Ser|1772/7556|817/3963|273/1320||,A|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|transcript|ENST00000424656|nonsense_mediated_decay||n.-2G>T|||||2831| 22 28195977 . G T . . ANN=T|synonymous_variant|LOW|MN1|ENSG00000169184|transcript|ENST00000302326|protein_coding|1/2|c.555C>A|p.Ala185Ala|1510/7556|555/3963|185/1320||,T|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|transcript|ENST00000424656|nonsense_mediated_decay||n.-2C>A|||||3093| 22 28196205 . C T . . ANN=T|synonymous_variant|LOW|MN1|ENSG00000169184|transcript|ENST00000302326|protein_coding|1/2|c.327G>A|p.Gln109Gln|1282/7556|327/3963|109/1320||,T|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|transcript|ENST00000424656|nonsense_mediated_decay||n.-2G>A|||||3321| 22 28196225 . C A . . ANN=A|stop_gained|HIGH|MN1|ENSG00000169184|transcript|ENST00000302326|protein_coding|1/2|c.307G>T|p.Gly103*|1262/7556|307/3963|103/1320||,A|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|transcript|ENST00000424656|nonsense_mediated_decay||n.-2G>T|||||3341|;LOF=(MN1|ENSG00000169184|3|0.33);NMD=(MN1|ENSG00000169184|3|0.33) 22 28196226 . C G . . ANN=G|synonymous_variant|LOW|MN1|ENSG00000169184|transcript|ENST00000302326|protein_coding|1/2|c.306G>C|p.Pro102Pro|1261/7556|306/3963|102/1320||,G|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|transcript|ENST00000424656|nonsense_mediated_decay||n.-2G>C|||||3342| 22 28196248 . T C . . ANN=C|missense_variant|MODERATE|MN1|ENSG00000169184|transcript|ENST00000302326|protein_coding|1/2|c.284A>G|p.Gln95Arg|1239/7556|284/3963|95/1320||,C|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|transcript|ENST00000424656|nonsense_mediated_decay||n.-2A>G|||||3364| 22 28196290 . C G . . ANN=G|missense_variant|MODERATE|MN1|ENSG00000169184|transcript|ENST00000302326|protein_coding|1/2|c.242G>C|p.Gly81Ala|1197/7556|242/3963|81/1320||,G|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|transcript|ENST00000424656|nonsense_mediated_decay||n.-2G>C|||||3406| 22 28196476 . C T . . ANN=T|missense_variant|MODERATE|MN1|ENSG00000169184|transcript|ENST00000302326|protein_coding|1/2|c.56G>A|p.Gly19Asp|1011/7556|56/3963|19/1320||,T|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|transcript|ENST00000424656|nonsense_mediated_decay||n.-2G>A|||||3592| 22 28196548 . AG A . . ANN=|5_prime_UTR_variant|MODIFIER|MN1|ENSG00000169184|transcript|ENST00000302326|protein_coding|1/2|c.-18delC|||||18|,|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|transcript|ENST00000424656|nonsense_mediated_decay||n.-2delC|||||3665| 22 28196550 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|MN1|ENSG00000169184|transcript|ENST00000302326|protein_coding|1/2|c.-19C>T|||||19|,A|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|transcript|ENST00000424656|nonsense_mediated_decay||n.-2C>T|||||3666| 22 28256235 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|PITPNB|ENSG00000180957|transcript|ENST00000455418|protein_coding|8/11|c.541-6A>G||||||,C|splice_region_variant&intron_variant|LOW|PITPNB|ENSG00000180957|transcript|ENST00000335272|protein_coding|8/11|c.535-6A>G||||||,C|splice_region_variant&intron_variant|LOW|PITPNB|ENSG00000180957|transcript|ENST00000320996|protein_coding|8/10|c.535-6A>G||||||,C|splice_region_variant&intron_variant|LOW|PITPNB|ENSG00000180957|transcript|ENST00000477861|retained_intron|5/7|n.519-6A>G||||||,C|splice_region_variant&intron_variant|LOW|PITPNB|ENSG00000180957|transcript|ENST00000415296|protein_coding|8/8|c.316-6A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000493007|retained_intron|1/2|n.369A>G|||||| 22 28269716 . C T . . ANN=T|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000436663|protein_coding||c.*590G>A|||||47|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000455418|protein_coding|8/11|c.540+10G>A||||||,T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000335272|protein_coding|8/11|c.534+10G>A||||||,T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000320996|protein_coding|8/10|c.534+10G>A||||||,T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000477861|retained_intron|5/7|n.518+10G>A||||||,T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000415296|protein_coding|8/8|c.315+10G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 28269798 . G A . . ANN=A|synonymous_variant|LOW|PITPNB|ENSG00000180957|transcript|ENST00000455418|protein_coding|8/12|c.468C>T|p.Tyr156Tyr|468/2852|468/822|156/273||,A|synonymous_variant|LOW|PITPNB|ENSG00000180957|transcript|ENST00000335272|protein_coding|8/12|c.462C>T|p.Tyr154Tyr|539/2926|462/816|154/271||,A|synonymous_variant|LOW|PITPNB|ENSG00000180957|transcript|ENST00000320996|protein_coding|8/11|c.462C>T|p.Tyr154Tyr|526/2826|462/819|154/272||,A|synonymous_variant|LOW|PITPNB|ENSG00000180957|transcript|ENST00000415296|protein_coding|8/9|c.243C>T|p.Tyr81Tyr|766/884|243/361|81/119||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|PITPNB|ENSG00000180957|transcript|ENST00000436663|protein_coding|8/8|c.468C>T|p.Tyr156Tyr|555/590|468/503|156/166||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000477861|retained_intron|5/8|n.446C>T|||||| 22 28290521 . A C . . ANN=C|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000460566|retained_intron||n.*592T>G|||||2367|,C|intron_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000455418|protein_coding|7/11|c.462+22T>G||||||,C|intron_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000335272|protein_coding|7/11|c.456+22T>G||||||,C|intron_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000320996|protein_coding|7/10|c.456+22T>G||||||,C|intron_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000477861|retained_intron|4/7|n.440+22T>G||||||,C|intron_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000415296|protein_coding|7/8|c.237+22T>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000436663|protein_coding|7/7|c.462+22T>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000465179|retained_intron|2/2|n.257T>G|||||| 22 28292528 . G A . . ANN=A|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000460566|retained_intron||n.*592C>T|||||360|,A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000455418|protein_coding|6/11|c.378+12C>T||||||,A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000335272|protein_coding|6/11|c.372+12C>T||||||,A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000320996|protein_coding|6/10|c.372+12C>T||||||,A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000477861|retained_intron|3/7|n.356+12C>T||||||,A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000415296|protein_coding|6/8|c.153+12C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000436663|protein_coding|6/7|c.378+12C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000465179|retained_intron|1/1|n.151+12C>T|||||| 22 28293069 . A G . . ANN=G|upstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000465179|retained_intron||n.-1T>C|||||379|,G|intron_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000455418|protein_coding|5/11|c.303+49T>C||||||,G|intron_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000335272|protein_coding|5/11|c.297+49T>C||||||,G|intron_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000320996|protein_coding|5/10|c.297+49T>C||||||,G|intron_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000477861|retained_intron|2/7|n.281+49T>C||||||,G|intron_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000415296|protein_coding|5/8|c.78+49T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000436663|protein_coding|5/7|c.303+49T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000460566|retained_intron|5/5|n.411T>C|||||| 22 28306905 . T TAA . . ANN=AA|intron_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000455418|protein_coding|3/11|c.203+45_203+46dupTT||||||,AA|intron_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000335272|protein_coding|3/11|c.197+45_197+46dupTT||||||,AA|intron_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000320996|protein_coding|3/10|c.197+45_197+46dupTT||||||,AA|intron_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000415296|protein_coding|3/8|c.-23+45_-23+46dupTT||||||WARNING_TRANSCRIPT_INCOMPLETE,AA|intron_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000436663|protein_coding|3/7|c.203+45_203+46dupTT||||||WARNING_TRANSCRIPT_INCOMPLETE,AA|intron_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000460566|retained_intron|3/4|n.262+45_262+46dupTT||||||,AA|non_coding_exon_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000471825|retained_intron|3/3|n.295_296dupTT|||||| 22 28306930 . G A . . ANN=A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000455418|protein_coding|3/11|c.203+22C>T||||||,A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000335272|protein_coding|3/11|c.197+22C>T||||||,A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000320996|protein_coding|3/10|c.197+22C>T||||||,A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000415296|protein_coding|3/8|c.-23+22C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000436663|protein_coding|3/7|c.203+22C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000460566|retained_intron|3/4|n.262+22C>T||||||,A|non_coding_exon_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000471825|retained_intron|3/3|n.272C>T|||||| 22 28306948 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|PITPNB|ENSG00000180957|transcript|ENST00000455418|protein_coding|3/11|c.203+4A>G||||||,C|splice_region_variant&intron_variant|LOW|PITPNB|ENSG00000180957|transcript|ENST00000335272|protein_coding|3/11|c.197+4A>G||||||,C|splice_region_variant&intron_variant|LOW|PITPNB|ENSG00000180957|transcript|ENST00000320996|protein_coding|3/10|c.197+4A>G||||||,C|splice_region_variant&intron_variant|LOW|PITPNB|ENSG00000180957|transcript|ENST00000415296|protein_coding|3/8|c.-23+4A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|splice_region_variant&intron_variant|LOW|PITPNB|ENSG00000180957|transcript|ENST00000436663|protein_coding|3/7|c.203+4A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|splice_region_variant&intron_variant|LOW|PITPNB|ENSG00000180957|transcript|ENST00000460566|retained_intron|3/4|n.262+4A>G||||||,C|non_coding_exon_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000471825|retained_intron|3/3|n.254A>G|||||| 22 28307000 . T G . . ANN=G|missense_variant|MODERATE|PITPNB|ENSG00000180957|transcript|ENST00000455418|protein_coding|3/12|c.155A>C|p.Lys52Thr|155/2852|155/822|52/273||,G|missense_variant|MODERATE|PITPNB|ENSG00000180957|transcript|ENST00000335272|protein_coding|3/12|c.149A>C|p.Lys50Thr|226/2926|149/816|50/271||,G|missense_variant|MODERATE|PITPNB|ENSG00000180957|transcript|ENST00000320996|protein_coding|3/11|c.149A>C|p.Lys50Thr|213/2826|149/819|50/272||,G|missense_variant|MODERATE|PITPNB|ENSG00000180957|transcript|ENST00000436663|protein_coding|3/8|c.155A>C|p.Lys52Thr|242/590|155/503|52/166||WARNING_TRANSCRIPT_INCOMPLETE,G|5_prime_UTR_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000415296|protein_coding|3/9|c.-71A>C|||||13142|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000460566|retained_intron|3/5|n.214A>C||||||,G|non_coding_exon_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000471825|retained_intron|3/3|n.202A>C|||||| 22 28310364 . A G . . ANN=G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|transcript|ENST00000430853|antisense||n.-1A>G|||||5000|,G|intron_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000455418|protein_coding|1/11|c.27-29T>C||||||,G|intron_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000335272|protein_coding|1/11|c.21-29T>C||||||,G|intron_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000320996|protein_coding|1/10|c.21-29T>C||||||,G|intron_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000415296|protein_coding|1/8|c.-199-29T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000436663|protein_coding|1/7|c.27-29T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000460566|retained_intron|1/4|n.86-29T>C||||||,G|intron_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000471825|retained_intron|1/2|n.74-29T>C|||||| 22 29091147 . A C . . ANN=C|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000382580|protein_coding|13/16|c.1472T>G|p.Ile491Ser|1548/1971|1472/1761|491/586||,C|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000434810|protein_coding|7/10|c.539T>G|p.Ile180Ser|541/984|539/828|180/275||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000348295|protein_coding|11/14|c.1256T>G|p.Ile419Ser|1328/1771|1256/1545|419/514||,C|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000382578|protein_coding|10/13|c.1070T>G|p.Ile357Ser|1142/1585|1070/1359|357/452||,C|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding|13/16|c.680T>G|p.Ile227Ser|2117/2560|680/969|227/322||,C|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000404276|protein_coding|11/14|c.1343T>G|p.Ile448Ser|1343/1785|1343/1632|448/543||,C|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000328354|protein_coding|12/15|c.1343T>G|p.Ile448Ser|1425/1867|1343/1632|448/543||,C|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000405598|protein_coding|13/16|c.1343T>G|p.Ile448Ser|1535/1959|1343/1632|448/543||,C|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000402731|protein_coding|10/13|c.1256T>G|p.Ile419Ser|1256/1545|1256/1545|419/514||,C|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000403642|protein_coding|9/12|c.1070T>G|p.Ile357Ser|1070/1359|1070/1359|357/452||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|8/16|c.1472T>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|9/16|c.1472T>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|10/16|c.1472T>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|13/16|c.1472T>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|12/16|c.1472T>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|7/16|c.1472T>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|6/16|c.1472T>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|14/16|c.1472T>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|11/16|c.1472T>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|6/14|c.1343T>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|7/14|c.1343T>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|8/14|c.1343T>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|11/14|c.1343T>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|10/14|c.1343T>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|5/14|c.1343T>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|4/14|c.1343T>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|12/14|c.1343T>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|9/14|c.1343T>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|3/12|c.1070T>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|4/12|c.1070T>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|2/12|c.1070T>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|5/12|c.1070T>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|10/12|c.1070T>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|6/12|c.1070T>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|7/12|c.1070T>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|9/12|c.1070T>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|8/12|c.1070T>G||||||,C|3_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382566|protein_coding|11/14|c.*411T>G|||||4755|,C|3_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay|13/16|n.*833T>G|||||26441|,C|3_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000417588|nonsense_mediated_decay|10/13|n.*640T>G|||||16839|,C|3_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433728|nonsense_mediated_decay|10/13|n.*411T>G|||||4755|,C|3_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000448511|nonsense_mediated_decay|11/14|n.*735T>G|||||24311|,C|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000447421|protein_coding||c.*903T>G|||||1739|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433028|nonsense_mediated_decay||n.*530T>G|||||1743|,C|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000464581|processed_transcript||n.*425T>G|||||1764|,C|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000491919|retained_intron||n.*609T>G|||||1785|,C|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding||c.*752T>G|||||1809|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000439346|nonsense_mediated_decay||n.*174T>G|||||4605|,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000456369|protein_coding|4/5|c.261+4679T>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382565|protein_coding|2/4|c.320-5893T>G||||||,C|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay|13/16|n.*833T>G||||||,C|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000417588|nonsense_mediated_decay|10/13|n.*640T>G||||||,C|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433728|nonsense_mediated_decay|10/13|n.*411T>G||||||,C|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000448511|nonsense_mediated_decay|11/14|n.*735T>G|||||| 22 29091803 . C T . . ANN=T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000382580|protein_coding|12/16|c.1283G>A|p.Cys428Tyr|1359/1971|1283/1761|428/586||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000434810|protein_coding|6/10|c.383G>A|p.Cys128Tyr|385/984|383/828|128/275||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000348295|protein_coding|10/14|c.1067G>A|p.Cys356Tyr|1139/1771|1067/1545|356/514||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000382578|protein_coding|9/13|c.881G>A|p.Cys294Tyr|953/1585|881/1359|294/452||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding|12/16|c.491G>A|p.Cys164Tyr|1928/2560|491/969|164/322||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000404276|protein_coding|10/14|c.1154G>A|p.Cys385Tyr|1154/1785|1154/1632|385/543||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000328354|protein_coding|11/15|c.1154G>A|p.Cys385Tyr|1236/1867|1154/1632|385/543||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000405598|protein_coding|12/16|c.1154G>A|p.Cys385Tyr|1346/1959|1154/1632|385/543||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000402731|protein_coding|9/13|c.1067G>A|p.Cys356Tyr|1067/1545|1067/1545|356/514||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000403642|protein_coding|8/12|c.881G>A|p.Cys294Tyr|881/1359|881/1359|294/452||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|8/16|c.1283G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|9/16|c.1283G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|10/16|c.1283G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|13/16|c.1283G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|12/16|c.1283G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|7/16|c.1283G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|6/16|c.1283G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|14/16|c.1283G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|11/16|c.1283G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|region_of_interest:T-loop/activation_segment|ENST00000382580|protein_coding|12/16|c.1283G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|helix|ENST00000382580|protein_coding|12/16|c.1283G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|6/14|c.1154G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|7/14|c.1154G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|8/14|c.1154G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|11/14|c.1154G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|10/14|c.1154G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|5/14|c.1154G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|4/14|c.1154G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|12/14|c.1154G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|9/14|c.1154G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|region_of_interest:T-loop/activation_segment|ENST00000404276|protein_coding|10/14|c.1154G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|helix|ENST00000404276|protein_coding|10/14|c.1154G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|region_of_interest:T-loop/activation_segment|ENST00000402731|protein_coding|9/13|c.1067G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|helix|ENST00000402731|protein_coding|9/13|c.1067G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|3/12|c.881G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|4/12|c.881G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|2/12|c.881G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|5/12|c.881G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|10/12|c.881G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|6/12|c.881G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|7/12|c.881G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|9/12|c.881G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|8/12|c.881G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|region_of_interest:T-loop/activation_segment|ENST00000403642|protein_coding|8/12|c.881G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|helix|ENST00000403642|protein_coding|8/12|c.881G>A||||||,T|3_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382566|protein_coding|10/14|c.*222G>A|||||4099|,T|3_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay|12/16|n.*644G>A|||||25785|,T|3_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000417588|nonsense_mediated_decay|9/13|n.*451G>A|||||16183|,T|3_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433728|nonsense_mediated_decay|9/13|n.*222G>A|||||4099|,T|3_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000448511|nonsense_mediated_decay|10/14|n.*546G>A|||||23655|,T|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000447421|protein_coding||c.*903G>A|||||1083|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433028|nonsense_mediated_decay||n.*530G>A|||||1087|,T|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000464581|processed_transcript||n.*425G>A|||||1108|,T|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000491919|retained_intron||n.*609G>A|||||1129|,T|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding||c.*752G>A|||||1153|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000439346|nonsense_mediated_decay||n.*174G>A|||||3949|,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000456369|protein_coding|4/5|c.261+4023G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382565|protein_coding|2/4|c.320-6549G>A||||||,T|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay|12/16|n.*644G>A||||||,T|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000417588|nonsense_mediated_decay|9/13|n.*451G>A||||||,T|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433728|nonsense_mediated_decay|9/13|n.*222G>A||||||,T|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000448511|nonsense_mediated_decay|10/14|n.*546G>A|||||| 22 29091856 . AG A . . ANN=|frameshift_variant|HIGH|CHEK2|ENSG00000183765|transcript|ENST00000382580|protein_coding|12/16|c.1229delC|p.Thr410fs|1305/1971|1229/1761|410/586||,|frameshift_variant|HIGH|CHEK2|ENSG00000183765|transcript|ENST00000434810|protein_coding|6/10|c.329delC|p.Thr110fs|331/984|329/828|110/275||WARNING_TRANSCRIPT_NO_START_CODON,|frameshift_variant|HIGH|CHEK2|ENSG00000183765|transcript|ENST00000348295|protein_coding|10/14|c.1013delC|p.Thr338fs|1085/1771|1013/1545|338/514||,|frameshift_variant|HIGH|CHEK2|ENSG00000183765|transcript|ENST00000382578|protein_coding|9/13|c.827delC|p.Thr276fs|899/1585|827/1359|276/452||,|frameshift_variant|HIGH|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding|12/16|c.437delC|p.Thr146fs|1874/2560|437/969|146/322||,|frameshift_variant|HIGH|CHEK2|ENSG00000183765|transcript|ENST00000404276|protein_coding|10/14|c.1100delC|p.Thr367fs|1100/1785|1100/1632|367/543||,|frameshift_variant|HIGH|CHEK2|ENSG00000183765|transcript|ENST00000328354|protein_coding|11/15|c.1100delC|p.Thr367fs|1182/1867|1100/1632|367/543||,|frameshift_variant|HIGH|CHEK2|ENSG00000183765|transcript|ENST00000405598|protein_coding|12/16|c.1100delC|p.Thr367fs|1292/1959|1100/1632|367/543||,|frameshift_variant|HIGH|CHEK2|ENSG00000183765|transcript|ENST00000402731|protein_coding|9/13|c.1013delC|p.Thr338fs|1013/1545|1013/1545|338/514||,|frameshift_variant|HIGH|CHEK2|ENSG00000183765|transcript|ENST00000403642|protein_coding|8/12|c.827delC|p.Thr276fs|827/1359|827/1359|276/452||,|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|8/16|c.1229delC||||||,|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|9/16|c.1229delC||||||,|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|10/16|c.1229delC||||||,|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|13/16|c.1229delC||||||,|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|12/16|c.1229delC||||||,|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|7/16|c.1229delC||||||,|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|6/16|c.1229delC||||||,|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|14/16|c.1229delC||||||,|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|11/16|c.1229delC||||||,|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|6/14|c.1100delC||||||,|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|7/14|c.1100delC||||||,|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|8/14|c.1100delC||||||,|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|11/14|c.1100delC||||||,|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|10/14|c.1100delC||||||,|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|5/14|c.1100delC||||||,|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|4/14|c.1100delC||||||,|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|12/14|c.1100delC||||||,|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|9/14|c.1100delC||||||,|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|3/12|c.827delC||||||,|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|4/12|c.827delC||||||,|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|2/12|c.827delC||||||,|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|5/12|c.827delC||||||,|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|10/12|c.827delC||||||,|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|6/12|c.827delC||||||,|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|7/12|c.827delC||||||,|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|9/12|c.827delC||||||,|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|8/12|c.827delC||||||,|3_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382566|protein_coding|10/14|c.*168delC|||||4045|,|3_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay|12/16|n.*590delC|||||25731|,|3_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000417588|nonsense_mediated_decay|9/13|n.*397delC|||||16129|,|3_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433728|nonsense_mediated_decay|9/13|n.*168delC|||||4045|,|3_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000448511|nonsense_mediated_decay|10/14|n.*492delC|||||23601|,|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000447421|protein_coding||c.*903delC|||||1029|WARNING_TRANSCRIPT_NO_STOP_CODON,|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433028|nonsense_mediated_decay||n.*530delC|||||1033|,|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000464581|processed_transcript||n.*425delC|||||1054|,|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000491919|retained_intron||n.*609delC|||||1075|,|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding||c.*752delC|||||1099|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000439346|nonsense_mediated_decay||n.*174delC|||||3895|,|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000456369|protein_coding|4/5|c.261+3969delC||||||WARNING_TRANSCRIPT_NO_START_CODON,|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382565|protein_coding|2/4|c.320-6603delC||||||,|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay|12/16|n.*590delC||||||,|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000417588|nonsense_mediated_decay|9/13|n.*397delC||||||,|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433728|nonsense_mediated_decay|9/13|n.*168delC||||||,|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000448511|nonsense_mediated_decay|10/14|n.*492delC||||||;LOF=(CHEK2|ENSG00000183765|27|0.37) 22 29092870 . C T . . ANN=T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|8/16|c.1224+19G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|9/16|c.1224+19G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|10/16|c.1224+19G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|13/16|c.1224+19G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|12/16|c.1224+19G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|7/16|c.1224+19G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|6/16|c.1224+19G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|14/16|c.1224+19G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|11/16|c.1224+19G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000382580|protein_coding|12/16|c.1224+19G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000382580|protein_coding|11/16|c.1224+19G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|6/14|c.1095+19G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|7/14|c.1095+19G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|8/14|c.1095+19G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|11/14|c.1095+19G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|10/14|c.1095+19G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|5/14|c.1095+19G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|4/14|c.1095+19G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|12/14|c.1095+19G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|9/14|c.1095+19G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000404276|protein_coding|10/14|c.1095+19G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000404276|protein_coding|9/14|c.1095+19G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|3/12|c.822+19G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|4/12|c.822+19G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|2/12|c.822+19G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|5/12|c.822+19G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|10/12|c.822+19G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|6/12|c.822+19G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|7/12|c.822+19G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|9/12|c.822+19G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|8/12|c.822+19G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000403642|protein_coding|7/12|c.822+19G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000403642|protein_coding|8/12|c.822+19G>A||||||,T|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000447421|protein_coding||c.*903G>A|||||16|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433028|nonsense_mediated_decay||n.*530G>A|||||20|,T|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000464581|processed_transcript||n.*425G>A|||||41|,T|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000491919|retained_intron||n.*609G>A|||||62|,T|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding||c.*752G>A|||||86|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000439346|nonsense_mediated_decay||n.*174G>A|||||2882|,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382580|protein_coding|11/15|c.1224+19G>A||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000434810|protein_coding|5/9|c.324+19G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000456369|protein_coding|4/5|c.261+2956G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000348295|protein_coding|9/13|c.1009-1009G>A||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382565|protein_coding|2/4|c.320-7616G>A||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382566|protein_coding|9/13|c.*163+19G>A||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382578|protein_coding|8/12|c.822+19G>A||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay|11/15|n.*585+19G>A||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding|11/15|c.432+19G>A||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000404276|protein_coding|9/13|c.1095+19G>A||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000328354|protein_coding|10/14|c.1095+19G>A||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000405598|protein_coding|11/15|c.1095+19G>A||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000417588|nonsense_mediated_decay|8/12|n.*392+19G>A||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433728|nonsense_mediated_decay|8/12|n.*163+19G>A||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000448511|nonsense_mediated_decay|9/13|n.*487+19G>A||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000402731|protein_coding|8/12|c.1009-1009G>A||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000403642|protein_coding|7/11|c.822+19G>A|||||| 22 29095813 . G A . . ANN=A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|8/16|c.1137+13C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|9/16|c.1137+13C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|10/16|c.1137+13C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|13/16|c.1137+13C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|12/16|c.1137+13C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|7/16|c.1137+13C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|6/16|c.1137+13C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|14/16|c.1137+13C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|11/16|c.1137+13C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|helix|ENST00000382580|protein_coding|10/16|c.1137+13C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|helix|ENST00000382580|protein_coding|11/16|c.1137+13C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|6/14|c.1008+13C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|7/14|c.1008+13C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|8/14|c.1008+13C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|11/14|c.1008+13C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|10/14|c.1008+13C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|5/14|c.1008+13C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|4/14|c.1008+13C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|12/14|c.1008+13C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|9/14|c.1008+13C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|helix|ENST00000404276|protein_coding|8/14|c.1008+13C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|helix|ENST00000404276|protein_coding|9/14|c.1008+13C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|3/12|c.735+13C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|4/12|c.735+13C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|2/12|c.735+13C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|5/12|c.735+13C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|10/12|c.735+13C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|6/12|c.735+13C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|7/12|c.735+13C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|9/12|c.735+13C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|8/12|c.735+13C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|helix|ENST00000403642|protein_coding|6/12|c.735+13C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|helix|ENST00000403642|protein_coding|7/12|c.735+13C>T||||||,A|3_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000439346|nonsense_mediated_decay|6/6|n.*318C>T|||||12173|,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382580|protein_coding|10/15|c.1137+13C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000434810|protein_coding|4/9|c.237+13C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000456369|protein_coding|4/5|c.261+13C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000348295|protein_coding|9/13|c.1008+13C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382565|protein_coding|2/4|c.320-10559C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382566|protein_coding|8/13|c.*76+13C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382578|protein_coding|7/12|c.735+13C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay|10/15|n.*498+13C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding|10/15|c.345+13C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000404276|protein_coding|8/13|c.1008+13C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000328354|protein_coding|9/14|c.1008+13C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000405598|protein_coding|10/15|c.1008+13C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000417588|nonsense_mediated_decay|7/12|n.*305+13C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433728|nonsense_mediated_decay|7/12|n.*76+13C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000448511|nonsense_mediated_decay|8/13|n.*400+13C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000402731|protein_coding|8/12|c.1008+13C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000403642|protein_coding|6/11|c.735+13C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000447421|protein_coding|7/7|c.807+13C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433028|nonsense_mediated_decay|9/9|n.*733+13C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000464581|processed_transcript|5/5|n.360+13C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000491919|retained_intron|4/4|n.565+13C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding|8/8|c.345+13C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000439346|nonsense_mediated_decay|6/6|n.*318C>T|||||| 22 29095818 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000382580|protein_coding|10/15|c.1137+8A>G||||||,C|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000434810|protein_coding|4/9|c.237+8A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000456369|protein_coding|4/5|c.261+8A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000348295|protein_coding|9/13|c.1008+8A>G||||||,C|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000382566|protein_coding|8/13|c.*76+8A>G||||||,C|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000382578|protein_coding|7/12|c.735+8A>G||||||,C|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay|10/15|n.*498+8A>G||||||,C|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding|10/15|c.345+8A>G||||||,C|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000404276|protein_coding|8/13|c.1008+8A>G||||||,C|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000328354|protein_coding|9/14|c.1008+8A>G||||||,C|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000405598|protein_coding|10/15|c.1008+8A>G||||||,C|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000417588|nonsense_mediated_decay|7/12|n.*305+8A>G||||||,C|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000433728|nonsense_mediated_decay|7/12|n.*76+8A>G||||||,C|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000448511|nonsense_mediated_decay|8/13|n.*400+8A>G||||||,C|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000402731|protein_coding|8/12|c.1008+8A>G||||||,C|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000403642|protein_coding|6/11|c.735+8A>G||||||,C|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000447421|protein_coding|7/7|c.807+8A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000433028|nonsense_mediated_decay|9/9|n.*733+8A>G||||||,C|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000464581|processed_transcript|5/5|n.360+8A>G||||||,C|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000491919|retained_intron|4/4|n.565+8A>G||||||,C|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding|8/8|c.345+8A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|8/16|c.1137+8A>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|9/16|c.1137+8A>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|10/16|c.1137+8A>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|13/16|c.1137+8A>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|12/16|c.1137+8A>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|7/16|c.1137+8A>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|6/16|c.1137+8A>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|14/16|c.1137+8A>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|11/16|c.1137+8A>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|helix|ENST00000382580|protein_coding|10/16|c.1137+8A>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|helix|ENST00000382580|protein_coding|11/16|c.1137+8A>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|6/14|c.1008+8A>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|7/14|c.1008+8A>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|8/14|c.1008+8A>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|11/14|c.1008+8A>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|10/14|c.1008+8A>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|5/14|c.1008+8A>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|4/14|c.1008+8A>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|12/14|c.1008+8A>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|9/14|c.1008+8A>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|helix|ENST00000404276|protein_coding|8/14|c.1008+8A>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|helix|ENST00000404276|protein_coding|9/14|c.1008+8A>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|3/12|c.735+8A>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|4/12|c.735+8A>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|2/12|c.735+8A>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|5/12|c.735+8A>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|10/12|c.735+8A>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|6/12|c.735+8A>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|7/12|c.735+8A>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|9/12|c.735+8A>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|8/12|c.735+8A>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|helix|ENST00000403642|protein_coding|6/12|c.735+8A>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|helix|ENST00000403642|protein_coding|7/12|c.735+8A>G||||||,C|3_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000439346|nonsense_mediated_decay|6/6|n.*313A>G|||||12168|,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382565|protein_coding|2/4|c.320-10564A>G||||||,C|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000439346|nonsense_mediated_decay|6/6|n.*313A>G|||||| 22 29099571 . A G . . ANN=G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|8/16|c.976-17T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|9/16|c.976-17T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|10/16|c.976-17T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|13/16|c.976-17T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|12/16|c.976-17T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|7/16|c.976-17T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|6/16|c.976-17T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|14/16|c.976-17T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|11/16|c.976-17T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|6/14|c.847-17T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|7/14|c.847-17T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|8/14|c.847-17T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|11/14|c.847-17T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|10/14|c.847-17T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|5/14|c.847-17T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|4/14|c.847-17T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|12/14|c.847-17T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|9/14|c.847-17T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|3/12|c.574-17T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|4/12|c.574-17T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|2/12|c.574-17T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|5/12|c.574-17T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|10/12|c.574-17T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|6/12|c.574-17T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|7/12|c.574-17T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|9/12|c.574-17T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|8/12|c.574-17T>C||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382580|protein_coding|8/15|c.976-17T>C||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000434810|protein_coding|2/9|c.76-17T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000456369|protein_coding|2/5|c.100-17T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000348295|protein_coding|7/13|c.847-17T>C||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382565|protein_coding|2/4|c.320-14317T>C||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382566|protein_coding|7/13|c.847-3646T>C||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382578|protein_coding|5/12|c.574-17T>C||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay|8/15|n.*337-17T>C||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding|8/15|c.184-17T>C||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000404276|protein_coding|6/13|c.847-17T>C||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000328354|protein_coding|7/14|c.847-17T>C||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000405598|protein_coding|8/15|c.847-17T>C||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000417588|nonsense_mediated_decay|5/12|n.*144-17T>C||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433728|nonsense_mediated_decay|6/12|n.847-3646T>C||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000448511|nonsense_mediated_decay|6/13|n.*239-17T>C||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000402731|protein_coding|6/12|c.847-17T>C||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000403642|protein_coding|4/11|c.574-17T>C||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000447421|protein_coding|5/7|c.646-17T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433028|nonsense_mediated_decay|7/9|n.*572-17T>C||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000464581|processed_transcript|3/5|n.199-17T>C||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000491919|retained_intron|2/4|n.404-17T>C||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding|6/8|c.184-17T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000439346|nonsense_mediated_decay|4/5|n.*144-17T>C|||||| 22 29105959 . A G . . ANN=G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|8/16|c.975+35T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|9/16|c.975+35T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|10/16|c.975+35T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|13/16|c.975+35T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|12/16|c.975+35T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|7/16|c.975+35T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|6/16|c.975+35T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|14/16|c.975+35T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|11/16|c.975+35T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|6/14|c.846+35T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|7/14|c.846+35T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|8/14|c.846+35T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|11/14|c.846+35T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|10/14|c.846+35T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|5/14|c.846+35T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|4/14|c.846+35T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|12/14|c.846+35T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|9/14|c.846+35T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|3/12|c.573+35T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|4/12|c.573+35T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|2/12|c.573+35T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|5/12|c.573+35T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|10/12|c.573+35T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|6/12|c.573+35T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|7/12|c.573+35T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|9/12|c.573+35T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|8/12|c.573+35T>C||||||,G|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000439200|protein_coding||c.*906T>C|||||1938|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382580|protein_coding|8/15|c.975+35T>C||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000434810|protein_coding|2/9|c.75+35T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000456369|protein_coding|2/5|c.99+35T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000348295|protein_coding|7/13|c.846+35T>C||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382565|protein_coding|2/4|c.320-20705T>C||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382566|protein_coding|7/13|c.846+35T>C||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382578|protein_coding|5/12|c.573+35T>C||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay|8/15|n.*336+35T>C||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding|8/15|c.183+35T>C||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000404276|protein_coding|6/13|c.846+35T>C||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000328354|protein_coding|7/14|c.846+35T>C||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000405598|protein_coding|8/15|c.846+35T>C||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000417588|nonsense_mediated_decay|5/12|n.*143+35T>C||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433728|nonsense_mediated_decay|6/12|n.846+35T>C||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000448511|nonsense_mediated_decay|6/13|n.*238+35T>C||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000402731|protein_coding|6/12|c.846+35T>C||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000403642|protein_coding|4/11|c.573+35T>C||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000447421|protein_coding|5/7|c.645+35T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433028|nonsense_mediated_decay|7/9|n.*571+35T>C||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000464581|processed_transcript|3/5|n.198+35T>C||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000491919|retained_intron|2/4|n.403+35T>C||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding|6/8|c.183+35T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000439346|nonsense_mediated_decay|4/5|n.*143+35T>C|||||| 22 29105977 . CAT C . . ANN=|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|8/16|c.975+15_975+16delAT||||||,|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|9/16|c.975+15_975+16delAT||||||,|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|10/16|c.975+15_975+16delAT||||||,|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|13/16|c.975+15_975+16delAT||||||,|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|12/16|c.975+15_975+16delAT||||||,|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|7/16|c.975+15_975+16delAT||||||,|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|6/16|c.975+15_975+16delAT||||||,|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|14/16|c.975+15_975+16delAT||||||,|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|11/16|c.975+15_975+16delAT||||||,|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|6/14|c.846+15_846+16delAT||||||,|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|7/14|c.846+15_846+16delAT||||||,|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|8/14|c.846+15_846+16delAT||||||,|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|11/14|c.846+15_846+16delAT||||||,|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|10/14|c.846+15_846+16delAT||||||,|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|5/14|c.846+15_846+16delAT||||||,|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|4/14|c.846+15_846+16delAT||||||,|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|12/14|c.846+15_846+16delAT||||||,|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|9/14|c.846+15_846+16delAT||||||,|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|3/12|c.573+15_573+16delAT||||||,|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|4/12|c.573+15_573+16delAT||||||,|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|2/12|c.573+15_573+16delAT||||||,|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|5/12|c.573+15_573+16delAT||||||,|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|10/12|c.573+15_573+16delAT||||||,|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|6/12|c.573+15_573+16delAT||||||,|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|7/12|c.573+15_573+16delAT||||||,|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|9/12|c.573+15_573+16delAT||||||,|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|8/12|c.573+15_573+16delAT||||||,|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000439200|protein_coding||c.*906_*906delAT|||||1919|WARNING_TRANSCRIPT_NO_STOP_CODON,|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382580|protein_coding|8/15|c.975+15_975+16delAT||||||,|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000434810|protein_coding|2/9|c.75+15_75+16delAT||||||WARNING_TRANSCRIPT_NO_START_CODON,|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000456369|protein_coding|2/5|c.99+15_99+16delAT||||||WARNING_TRANSCRIPT_NO_START_CODON,|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000348295|protein_coding|7/13|c.846+15_846+16delAT||||||,|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382565|protein_coding|2/4|c.320-20725_320-20724delAT||||||,|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382566|protein_coding|7/13|c.846+15_846+16delAT||||||,|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382578|protein_coding|5/12|c.573+15_573+16delAT||||||,|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay|8/15|n.*336+15_*336+16delAT||||||,|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding|8/15|c.183+15_183+16delAT||||||,|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000404276|protein_coding|6/13|c.846+15_846+16delAT||||||,|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000328354|protein_coding|7/14|c.846+15_846+16delAT||||||,|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000405598|protein_coding|8/15|c.846+15_846+16delAT||||||,|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000417588|nonsense_mediated_decay|5/12|n.*143+15_*143+16delAT||||||,|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433728|nonsense_mediated_decay|6/12|n.846+15_846+16delAT||||||,|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000448511|nonsense_mediated_decay|6/13|n.*238+15_*238+16delAT||||||,|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000402731|protein_coding|6/12|c.846+15_846+16delAT||||||,|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000403642|protein_coding|4/11|c.573+15_573+16delAT||||||,|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000447421|protein_coding|5/7|c.645+15_645+16delAT||||||WARNING_TRANSCRIPT_NO_STOP_CODON,|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433028|nonsense_mediated_decay|7/9|n.*571+15_*571+16delAT||||||,|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000464581|processed_transcript|3/5|n.198+15_198+16delAT||||||,|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000491919|retained_intron|2/4|n.403+15_403+16delAT||||||,|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding|6/8|c.183+15_183+16delAT||||||WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000439346|nonsense_mediated_decay|4/5|n.*143+15_*143+16delAT|||||| 22 29106058 . C T . . ANN=T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|8/16|c.922-11G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|9/16|c.922-11G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|10/16|c.922-11G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|13/16|c.922-11G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|12/16|c.922-11G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|7/16|c.922-11G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|6/16|c.922-11G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|14/16|c.922-11G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|11/16|c.922-11G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|6/14|c.793-11G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|7/14|c.793-11G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|8/14|c.793-11G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|11/14|c.793-11G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|10/14|c.793-11G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|5/14|c.793-11G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|4/14|c.793-11G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|12/14|c.793-11G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|9/14|c.793-11G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|3/12|c.520-11G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|4/12|c.520-11G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|2/12|c.520-11G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|5/12|c.520-11G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|10/12|c.520-11G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|6/12|c.520-11G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|7/12|c.520-11G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|9/12|c.520-11G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|8/12|c.520-11G>A||||||,T|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000439200|protein_coding||c.*906G>A|||||1839|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382580|protein_coding|7/15|c.922-11G>A||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000434810|protein_coding|1/9|c.22-11G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000456369|protein_coding|1/5|c.46-11G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000348295|protein_coding|6/13|c.793-11G>A||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382565|protein_coding|2/4|c.320-20804G>A||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382566|protein_coding|6/13|c.793-11G>A||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382578|protein_coding|4/12|c.520-11G>A||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay|7/15|n.*283-11G>A||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding|7/15|c.130-11G>A||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000404276|protein_coding|5/13|c.793-11G>A||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000328354|protein_coding|6/14|c.793-11G>A||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000405598|protein_coding|7/15|c.793-11G>A||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000417588|nonsense_mediated_decay|4/12|n.*90-11G>A||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433728|nonsense_mediated_decay|5/12|n.793-11G>A||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000448511|nonsense_mediated_decay|5/13|n.*185-11G>A||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000402731|protein_coding|5/12|c.793-11G>A||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000403642|protein_coding|3/11|c.520-11G>A||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000447421|protein_coding|4/7|c.592-11G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433028|nonsense_mediated_decay|6/9|n.*518-11G>A||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000464581|processed_transcript|2/5|n.145-11G>A||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000491919|retained_intron|1/4|n.350-11G>A||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding|5/8|c.130-11G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000439346|nonsense_mediated_decay|3/5|n.*90-11G>A|||||| 22 29106075 . T A . . ANN=A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|8/16|c.922-28A>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|9/16|c.922-28A>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|10/16|c.922-28A>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|13/16|c.922-28A>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|12/16|c.922-28A>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|7/16|c.922-28A>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|6/16|c.922-28A>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|14/16|c.922-28A>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|11/16|c.922-28A>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|6/14|c.793-28A>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|7/14|c.793-28A>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|8/14|c.793-28A>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|11/14|c.793-28A>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|10/14|c.793-28A>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|5/14|c.793-28A>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|4/14|c.793-28A>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|12/14|c.793-28A>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|9/14|c.793-28A>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|3/12|c.520-28A>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|4/12|c.520-28A>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|2/12|c.520-28A>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|5/12|c.520-28A>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|10/12|c.520-28A>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|6/12|c.520-28A>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|7/12|c.520-28A>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|9/12|c.520-28A>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|8/12|c.520-28A>T||||||,A|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000439200|protein_coding||c.*906A>T|||||1822|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382580|protein_coding|7/15|c.922-28A>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000434810|protein_coding|1/9|c.22-28A>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000456369|protein_coding|1/5|c.46-28A>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000348295|protein_coding|6/13|c.793-28A>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382565|protein_coding|2/4|c.320-20821A>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382566|protein_coding|6/13|c.793-28A>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382578|protein_coding|4/12|c.520-28A>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay|7/15|n.*283-28A>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding|7/15|c.130-28A>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000404276|protein_coding|5/13|c.793-28A>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000328354|protein_coding|6/14|c.793-28A>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000405598|protein_coding|7/15|c.793-28A>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000417588|nonsense_mediated_decay|4/12|n.*90-28A>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433728|nonsense_mediated_decay|5/12|n.793-28A>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000448511|nonsense_mediated_decay|5/13|n.*185-28A>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000402731|protein_coding|5/12|c.793-28A>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000403642|protein_coding|3/11|c.520-28A>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000447421|protein_coding|4/7|c.592-28A>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433028|nonsense_mediated_decay|6/9|n.*518-28A>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000464581|processed_transcript|2/5|n.145-28A>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000491919|retained_intron|1/4|n.350-28A>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding|5/8|c.130-28A>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000439346|nonsense_mediated_decay|3/5|n.*90-28A>T|||||| 22 29107858 . G A . . ANN=A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|8/16|c.921+39C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|9/16|c.921+39C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|10/16|c.921+39C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|13/16|c.921+39C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|12/16|c.921+39C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|7/16|c.921+39C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|6/16|c.921+39C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|14/16|c.921+39C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|11/16|c.921+39C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|6/14|c.792+39C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|7/14|c.792+39C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|8/14|c.792+39C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|11/14|c.792+39C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|10/14|c.792+39C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|5/14|c.792+39C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|4/14|c.792+39C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|12/14|c.792+39C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|9/14|c.792+39C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|3/12|c.519+39C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|4/12|c.519+39C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|2/12|c.519+39C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|5/12|c.519+39C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|10/12|c.519+39C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|6/12|c.519+39C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|7/12|c.519+39C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|9/12|c.519+39C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|8/12|c.519+39C>T||||||,A|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000439200|protein_coding||c.*906C>T|||||39|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382580|protein_coding|7/15|c.921+39C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000434810|protein_coding|1/9|c.21+39C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000456369|protein_coding|1/5|c.45+39C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000348295|protein_coding|6/13|c.792+39C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382565|protein_coding|2/4|c.319+22533C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382566|protein_coding|6/13|c.792+39C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382578|protein_coding|4/12|c.519+39C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay|7/15|n.*282+39C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding|7/15|c.129+39C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000404276|protein_coding|5/13|c.792+39C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000328354|protein_coding|6/14|c.792+39C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000405598|protein_coding|7/15|c.792+39C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000417588|nonsense_mediated_decay|4/12|n.*89+39C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433728|nonsense_mediated_decay|5/12|n.792+39C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000448511|nonsense_mediated_decay|5/13|n.*184+39C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000402731|protein_coding|5/12|c.792+39C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000403642|protein_coding|3/11|c.519+39C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000447421|protein_coding|4/7|c.591+39C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433028|nonsense_mediated_decay|6/9|n.*517+39C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000464581|processed_transcript|2/5|n.144+39C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000491919|retained_intron|1/4|n.349+39C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding|5/8|c.129+39C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000439346|nonsense_mediated_decay|3/5|n.*89+39C>T|||||| 22 29115403 . G C . . ANN=C|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000382580|protein_coding|6/16|c.792C>G|p.Ile264Met|868/1971|792/1761|264/586||,C|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000348295|protein_coding|5/14|c.663C>G|p.Ile221Met|735/1771|663/1545|221/514||,C|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000382566|protein_coding|5/14|c.663C>G|p.Ile221Met|735/1796|663/870|221/289||,C|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000382578|protein_coding|3/13|c.390C>G|p.Ile130Met|462/1585|390/1359|130/452||,C|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000404276|protein_coding|4/14|c.663C>G|p.Ile221Met|663/1785|663/1632|221/543||,C|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000328354|protein_coding|5/15|c.663C>G|p.Ile221Met|745/1867|663/1632|221/543||,C|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000405598|protein_coding|6/16|c.663C>G|p.Ile221Met|855/1959|663/1632|221/543||,C|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000402731|protein_coding|4/13|c.663C>G|p.Ile221Met|663/1545|663/1545|221/514||,C|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000403642|protein_coding|2/12|c.390C>G|p.Ile130Met|390/1359|390/1359|130/452||,C|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000439200|protein_coding|6/7|c.756C>G|p.Ile252Met|777/906|756/885|252/294||WARNING_TRANSCRIPT_NO_STOP_CODON,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding|6/16|c.-1C>G||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding|4/9|c.-1C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|8/16|c.792C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|9/16|c.792C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|10/16|c.792C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|13/16|c.792C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|12/16|c.792C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|7/16|c.792C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|6/16|c.792C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|14/16|c.792C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|11/16|c.792C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000382580|protein_coding|7/16|c.792C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000382580|protein_coding|6/16|c.792C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|6/14|c.663C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|7/14|c.663C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|8/14|c.663C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|11/14|c.663C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|10/14|c.663C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|5/14|c.663C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|4/14|c.663C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|12/14|c.663C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|9/14|c.663C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000404276|protein_coding|5/14|c.663C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000404276|protein_coding|4/14|c.663C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000402731|protein_coding|5/13|c.663C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000402731|protein_coding|4/13|c.663C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|3/12|c.390C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|4/12|c.390C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|2/12|c.390C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|5/12|c.390C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|10/12|c.390C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|6/12|c.390C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|7/12|c.390C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|9/12|c.390C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|8/12|c.390C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000403642|protein_coding|3/12|c.390C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000403642|protein_coding|2/12|c.390C>G||||||,C|5_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding|6/16|c.-1C>G|||||1|,C|5_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding|4/9|c.-1C>G|||||1|WARNING_TRANSCRIPT_INCOMPLETE,C|3_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay|6/16|n.*153C>G|||||2185|,C|3_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000448511|nonsense_mediated_decay|4/14|n.*55C>G|||||55|,C|3_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433028|nonsense_mediated_decay|5/10|n.*388C>G|||||5467|,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382565|protein_coding|2/4|c.319+14988C>G||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000417588|nonsense_mediated_decay|3/12|n.592+5562C>G||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000447421|protein_coding|3/7|c.482+5471C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000439346|nonsense_mediated_decay|2/5|n.154+5562C>G||||||,C|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay|6/16|n.*153C>G||||||,C|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433728|nonsense_mediated_decay|4/13|n.663C>G||||||,C|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000448511|nonsense_mediated_decay|4/14|n.*55C>G||||||,C|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433028|nonsense_mediated_decay|5/10|n.*388C>G|||||| 22 29115487 . G A . . ANN=A|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000382580|protein_coding|5/16|c.722-14C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000382580|protein_coding|6/16|c.722-14C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000404276|protein_coding|3/14|c.593-14C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000404276|protein_coding|4/14|c.593-14C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000402731|protein_coding|3/13|c.593-14C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000402731|protein_coding|4/13|c.593-14C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382580|protein_coding|5/15|c.722-14C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000348295|protein_coding|4/13|c.593-14C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382565|protein_coding|2/4|c.319+14904C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382566|protein_coding|4/13|c.593-14C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382578|protein_coding|2/12|c.320-14C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay|5/15|n.*83-14C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding|5/15|c.-71-14C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000404276|protein_coding|3/13|c.593-14C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000328354|protein_coding|4/14|c.593-14C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000405598|protein_coding|5/15|c.593-14C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000417588|nonsense_mediated_decay|3/12|n.592+5478C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433728|nonsense_mediated_decay|3/12|n.593-14C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000448511|nonsense_mediated_decay|3/13|n.483-14C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000402731|protein_coding|3/12|c.593-14C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000403642|protein_coding|1/11|c.320-14C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000447421|protein_coding|3/7|c.482+5387C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433028|nonsense_mediated_decay|4/9|n.*318-14C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding|3/8|c.-71-14C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000439346|nonsense_mediated_decay|2/5|n.154+5478C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000439200|protein_coding|5/6|c.686-14C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 29120956 . T C . . ANN=C|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000382580|protein_coding|5/16|c.721+9A>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000382580|protein_coding|6/16|c.721+9A>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000404276|protein_coding|3/14|c.592+9A>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000404276|protein_coding|4/14|c.592+9A>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000402731|protein_coding|3/13|c.592+9A>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000402731|protein_coding|4/13|c.592+9A>G||||||,C|3_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000454252|nonsense_mediated_decay|6/6|n.*581A>G|||||4353|,C|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000398017|protein_coding||c.*713A>G|||||115|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382580|protein_coding|5/15|c.721+9A>G||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000348295|protein_coding|4/13|c.592+9A>G||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382565|protein_coding|2/4|c.319+9435A>G||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382566|protein_coding|4/13|c.592+9A>G||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382578|protein_coding|2/12|c.320-5483A>G||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay|4/15|n.592+9A>G||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding|4/15|c.-186+9A>G||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000404276|protein_coding|3/13|c.592+9A>G||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000328354|protein_coding|4/14|c.592+9A>G||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000405598|protein_coding|5/15|c.592+9A>G||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000417588|nonsense_mediated_decay|3/12|n.592+9A>G||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433728|nonsense_mediated_decay|3/12|n.592+9A>G||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000448511|nonsense_mediated_decay|2/13|n.445-45A>G||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000402731|protein_coding|3/12|c.592+9A>G||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000403642|protein_coding|1/11|c.320-5483A>G||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000447421|protein_coding|2/7|c.445-45A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433028|nonsense_mediated_decay|3/9|n.445-45A>G||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding|3/8|c.-72+9A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000439346|nonsense_mediated_decay|2/5|n.154+9A>G||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000439200|protein_coding|5/6|c.685+9A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000454252|nonsense_mediated_decay|6/6|n.*581A>G|||||| 22 29120980 . G A . . ANN=A|synonymous_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000382580|protein_coding|5/16|c.706C>T|p.Leu236Leu|782/1971|706/1761|236/586||,A|synonymous_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000348295|protein_coding|4/14|c.577C>T|p.Leu193Leu|649/1771|577/1545|193/514||,A|synonymous_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000382566|protein_coding|4/14|c.577C>T|p.Leu193Leu|649/1796|577/870|193/289||,A|synonymous_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000404276|protein_coding|3/14|c.577C>T|p.Leu193Leu|577/1785|577/1632|193/543||,A|synonymous_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000328354|protein_coding|4/15|c.577C>T|p.Leu193Leu|659/1867|577/1632|193/543||,A|synonymous_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000405598|protein_coding|5/16|c.577C>T|p.Leu193Leu|769/1959|577/1632|193/543||,A|synonymous_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000402731|protein_coding|3/13|c.577C>T|p.Leu193Leu|577/1545|577/1545|193/514||,A|synonymous_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000439200|protein_coding|5/7|c.670C>T|p.Leu224Leu|691/906|670/885|224/294||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000382580|protein_coding|5/16|c.706C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000404276|protein_coding|3/14|c.577C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000402731|protein_coding|3/13|c.577C>T||||||,A|5_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding|4/16|c.-201C>T|||||5578|,A|5_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding|3/9|c.-87C>T|||||5578|WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000454252|nonsense_mediated_decay|6/6|n.*557C>T|||||4329|,A|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000398017|protein_coding||c.*713C>T|||||91|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382565|protein_coding|2/4|c.319+9411C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382578|protein_coding|2/12|c.320-5507C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000448511|nonsense_mediated_decay|2/13|n.445-69C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000403642|protein_coding|1/11|c.320-5507C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000447421|protein_coding|2/7|c.445-69C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433028|nonsense_mediated_decay|3/9|n.445-69C>T||||||,A|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay|4/16|n.577C>T||||||,A|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000417588|nonsense_mediated_decay|3/13|n.577C>T||||||,A|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433728|nonsense_mediated_decay|3/13|n.577C>T||||||,A|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000439346|nonsense_mediated_decay|2/6|n.139C>T||||||,A|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000454252|nonsense_mediated_decay|6/6|n.*557C>T|||||| 22 29121018 . C T . . ANN=T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000382580|protein_coding|5/16|c.668G>A|p.Arg223His|744/1971|668/1761|223/586||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000348295|protein_coding|4/14|c.539G>A|p.Arg180His|611/1771|539/1545|180/514||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000382566|protein_coding|4/14|c.539G>A|p.Arg180His|611/1796|539/870|180/289||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000404276|protein_coding|3/14|c.539G>A|p.Arg180His|539/1785|539/1632|180/543||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000328354|protein_coding|4/15|c.539G>A|p.Arg180His|621/1867|539/1632|180/543||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000405598|protein_coding|5/16|c.539G>A|p.Arg180His|731/1959|539/1632|180/543||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000402731|protein_coding|3/13|c.539G>A|p.Arg180His|539/1545|539/1545|180/514||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000439200|protein_coding|5/7|c.632G>A|p.Arg211His|653/906|632/885|211/294||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000382580|protein_coding|5/16|c.668G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000404276|protein_coding|3/14|c.539G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000402731|protein_coding|3/13|c.539G>A||||||,T|5_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding|4/16|c.-239G>A|||||5616|,T|5_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding|3/9|c.-125G>A|||||5616|WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000454252|nonsense_mediated_decay|6/6|n.*519G>A|||||4291|,T|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000398017|protein_coding||c.*713G>A|||||53|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382565|protein_coding|2/4|c.319+9373G>A||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382578|protein_coding|2/12|c.320-5545G>A||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000448511|nonsense_mediated_decay|2/13|n.445-107G>A||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000403642|protein_coding|1/11|c.320-5545G>A||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000447421|protein_coding|2/7|c.445-107G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433028|nonsense_mediated_decay|3/9|n.445-107G>A||||||,T|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay|4/16|n.539G>A||||||,T|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000417588|nonsense_mediated_decay|3/13|n.539G>A||||||,T|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433728|nonsense_mediated_decay|3/13|n.539G>A||||||,T|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000439346|nonsense_mediated_decay|2/6|n.101G>A||||||,T|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000454252|nonsense_mediated_decay|6/6|n.*519G>A|||||| 22 29121019 . G A . . ANN=A|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000382580|protein_coding|5/16|c.667C>T|p.Arg223Cys|743/1971|667/1761|223/586||,A|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000348295|protein_coding|4/14|c.538C>T|p.Arg180Cys|610/1771|538/1545|180/514||,A|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000382566|protein_coding|4/14|c.538C>T|p.Arg180Cys|610/1796|538/870|180/289||,A|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000404276|protein_coding|3/14|c.538C>T|p.Arg180Cys|538/1785|538/1632|180/543||,A|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000328354|protein_coding|4/15|c.538C>T|p.Arg180Cys|620/1867|538/1632|180/543||,A|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000405598|protein_coding|5/16|c.538C>T|p.Arg180Cys|730/1959|538/1632|180/543||,A|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000402731|protein_coding|3/13|c.538C>T|p.Arg180Cys|538/1545|538/1545|180/514||,A|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000439200|protein_coding|5/7|c.631C>T|p.Arg211Cys|652/906|631/885|211/294||WARNING_TRANSCRIPT_NO_STOP_CODON,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding|4/16|c.-240C>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding|3/9|c.-126C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000382580|protein_coding|5/16|c.667C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000404276|protein_coding|3/14|c.538C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000402731|protein_coding|3/13|c.538C>T||||||,A|5_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding|4/16|c.-240C>T|||||5617|,A|5_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding|3/9|c.-126C>T|||||5617|WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000454252|nonsense_mediated_decay|6/6|n.*518C>T|||||4290|,A|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000398017|protein_coding||c.*713C>T|||||52|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382565|protein_coding|2/4|c.319+9372C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382578|protein_coding|2/12|c.320-5546C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000448511|nonsense_mediated_decay|2/13|n.445-108C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000403642|protein_coding|1/11|c.320-5546C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000447421|protein_coding|2/7|c.445-108C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433028|nonsense_mediated_decay|3/9|n.445-108C>T||||||,A|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay|4/16|n.538C>T||||||,A|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000417588|nonsense_mediated_decay|3/13|n.538C>T||||||,A|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433728|nonsense_mediated_decay|3/13|n.538C>T||||||,A|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000439346|nonsense_mediated_decay|2/6|n.100C>T||||||,A|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000454252|nonsense_mediated_decay|6/6|n.*518C>T|||||| 22 29121087 . A G . . ANN=G|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000382580|protein_coding|5/16|c.599T>C|p.Ile200Thr|675/1971|599/1761|200/586||,G|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000348295|protein_coding|4/14|c.470T>C|p.Ile157Thr|542/1771|470/1545|157/514||,G|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000382566|protein_coding|4/14|c.470T>C|p.Ile157Thr|542/1796|470/870|157/289||,G|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000404276|protein_coding|3/14|c.470T>C|p.Ile157Thr|470/1785|470/1632|157/543||,G|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000328354|protein_coding|4/15|c.470T>C|p.Ile157Thr|552/1867|470/1632|157/543||,G|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000405598|protein_coding|5/16|c.470T>C|p.Ile157Thr|662/1959|470/1632|157/543||,G|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000402731|protein_coding|3/13|c.470T>C|p.Ile157Thr|470/1545|470/1545|157/514||,G|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000439200|protein_coding|5/7|c.563T>C|p.Ile188Thr|584/906|563/885|188/294||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000398017|protein_coding|6/6|c.500T>C|p.Ile167Thr|697/713|500/516|167/171||WARNING_TRANSCRIPT_NO_STOP_CODON,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding|4/16|c.-308T>C||||||,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding|3/9|c.-194T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:FHA|ENST00000382580|protein_coding|5/16|c.599T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:FHA|ENST00000382580|protein_coding|4/16|c.599T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000382580|protein_coding|5/16|c.599T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:FHA|ENST00000404276|protein_coding|3/14|c.470T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:FHA|ENST00000404276|protein_coding|2/14|c.470T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000404276|protein_coding|3/14|c.470T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:FHA|ENST00000402731|protein_coding|3/13|c.470T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:FHA|ENST00000402731|protein_coding|2/13|c.470T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000402731|protein_coding|3/13|c.470T>C||||||,G|5_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding|4/16|c.-308T>C|||||5685|,G|5_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding|3/9|c.-194T>C|||||5685|WARNING_TRANSCRIPT_INCOMPLETE,G|3_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000454252|nonsense_mediated_decay|6/6|n.*450T>C|||||4222|,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382565|protein_coding|2/4|c.319+9304T>C||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382578|protein_coding|2/12|c.320-5614T>C||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000448511|nonsense_mediated_decay|2/13|n.444+144T>C||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000403642|protein_coding|1/11|c.320-5614T>C||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000447421|protein_coding|2/7|c.444+144T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433028|nonsense_mediated_decay|3/9|n.444+144T>C||||||,G|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay|4/16|n.470T>C||||||,G|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000417588|nonsense_mediated_decay|3/13|n.470T>C||||||,G|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433728|nonsense_mediated_decay|3/13|n.470T>C||||||,G|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000439346|nonsense_mediated_decay|2/6|n.32T>C||||||,G|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000454252|nonsense_mediated_decay|6/6|n.*450T>C|||||| 22 29121207 . G A . . ANN=A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:FHA|ENST00000382580|protein_coding|5/16|c.573+24C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:FHA|ENST00000382580|protein_coding|4/16|c.573+24C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000382580|protein_coding|5/16|c.573+24C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000382580|protein_coding|4/16|c.573+24C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:FHA|ENST00000404276|protein_coding|3/14|c.444+24C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:FHA|ENST00000404276|protein_coding|2/14|c.444+24C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000404276|protein_coding|3/14|c.444+24C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000404276|protein_coding|2/14|c.444+24C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:FHA|ENST00000402731|protein_coding|3/13|c.444+24C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:FHA|ENST00000402731|protein_coding|2/13|c.444+24C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000402731|protein_coding|3/13|c.444+24C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000402731|protein_coding|2/13|c.444+24C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382580|protein_coding|4/15|c.573+24C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000348295|protein_coding|3/13|c.444+24C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382565|protein_coding|2/4|c.319+9184C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382566|protein_coding|3/13|c.444+24C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382578|protein_coding|2/12|c.320-5734C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay|3/15|n.444+24C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding|3/15|c.-334+24C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000404276|protein_coding|2/13|c.444+24C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000328354|protein_coding|3/14|c.444+24C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000405598|protein_coding|4/15|c.444+24C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000417588|nonsense_mediated_decay|2/12|n.444+24C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433728|nonsense_mediated_decay|2/12|n.444+24C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000448511|nonsense_mediated_decay|2/13|n.444+24C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000402731|protein_coding|2/12|c.444+24C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000403642|protein_coding|1/11|c.320-5734C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000447421|protein_coding|2/7|c.444+24C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433028|nonsense_mediated_decay|3/9|n.444+24C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding|2/8|c.-220+24C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000439346|nonsense_mediated_decay|1/5|n.6+24C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000439200|protein_coding|4/6|c.537+24C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000454252|nonsense_mediated_decay|5/5|n.*424+24C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000398017|protein_coding|5/5|c.474+24C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 29121226 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000382580|protein_coding|4/15|c.573+5G>A||||||,T|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000348295|protein_coding|3/13|c.444+5G>A||||||,T|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000382566|protein_coding|3/13|c.444+5G>A||||||,T|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay|3/15|n.444+5G>A||||||,T|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding|3/15|c.-334+5G>A||||||,T|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000404276|protein_coding|2/13|c.444+5G>A||||||,T|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000328354|protein_coding|3/14|c.444+5G>A||||||,T|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000405598|protein_coding|4/15|c.444+5G>A||||||,T|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000417588|nonsense_mediated_decay|2/12|n.444+5G>A||||||,T|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000433728|nonsense_mediated_decay|2/12|n.444+5G>A||||||,T|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000448511|nonsense_mediated_decay|2/13|n.444+5G>A||||||,T|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000402731|protein_coding|2/12|c.444+5G>A||||||,T|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000447421|protein_coding|2/7|c.444+5G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000433028|nonsense_mediated_decay|3/9|n.444+5G>A||||||,T|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding|2/8|c.-220+5G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000439346|nonsense_mediated_decay|1/5|n.6+5G>A||||||,T|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000439200|protein_coding|4/6|c.537+5G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000454252|nonsense_mediated_decay|5/5|n.*424+5G>A||||||,T|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000398017|protein_coding|5/5|c.474+5G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:FHA|ENST00000382580|protein_coding|5/16|c.573+5G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:FHA|ENST00000382580|protein_coding|4/16|c.573+5G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000382580|protein_coding|5/16|c.573+5G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000382580|protein_coding|4/16|c.573+5G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:FHA|ENST00000404276|protein_coding|3/14|c.444+5G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:FHA|ENST00000404276|protein_coding|2/14|c.444+5G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000404276|protein_coding|3/14|c.444+5G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000404276|protein_coding|2/14|c.444+5G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:FHA|ENST00000402731|protein_coding|3/13|c.444+5G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:FHA|ENST00000402731|protein_coding|2/13|c.444+5G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000402731|protein_coding|3/13|c.444+5G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000402731|protein_coding|2/13|c.444+5G>A||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382565|protein_coding|2/4|c.319+9165G>A||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382578|protein_coding|2/12|c.320-5753G>A||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000403642|protein_coding|1/11|c.320-5753G>A|||||| 22 29121294 . T C . . ANN=C|synonymous_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000382580|protein_coding|4/16|c.510A>G|p.Glu170Glu|586/1971|510/1761|170/586||,C|synonymous_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000348295|protein_coding|3/14|c.381A>G|p.Glu127Glu|453/1771|381/1545|127/514||,C|synonymous_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000382566|protein_coding|3/14|c.381A>G|p.Glu127Glu|453/1796|381/870|127/289||,C|synonymous_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000404276|protein_coding|2/14|c.381A>G|p.Glu127Glu|381/1785|381/1632|127/543||,C|synonymous_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000328354|protein_coding|3/15|c.381A>G|p.Glu127Glu|463/1867|381/1632|127/543||,C|synonymous_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000405598|protein_coding|4/16|c.381A>G|p.Glu127Glu|573/1959|381/1632|127/543||,C|synonymous_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000402731|protein_coding|2/13|c.381A>G|p.Glu127Glu|381/1545|381/1545|127/514||,C|synonymous_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000447421|protein_coding|2/8|c.381A>G|p.Glu127Glu|387/903|381/897|127/298||WARNING_TRANSCRIPT_NO_STOP_CODON,C|synonymous_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000439200|protein_coding|4/7|c.474A>G|p.Glu158Glu|495/906|474/885|158/294||WARNING_TRANSCRIPT_NO_STOP_CODON,C|synonymous_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000398017|protein_coding|5/6|c.411A>G|p.Glu137Glu|608/713|411/516|137/171||WARNING_TRANSCRIPT_NO_STOP_CODON,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:FHA|ENST00000382580|protein_coding|5/16|c.510A>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:FHA|ENST00000382580|protein_coding|4/16|c.510A>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:FHA|ENST00000404276|protein_coding|3/14|c.381A>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:FHA|ENST00000404276|protein_coding|2/14|c.381A>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:FHA|ENST00000402731|protein_coding|3/13|c.381A>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:FHA|ENST00000402731|protein_coding|2/13|c.381A>G||||||,C|5_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding|3/16|c.-397A>G|||||5892|,C|5_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding|2/9|c.-283A>G|||||5892|WARNING_TRANSCRIPT_INCOMPLETE,C|3_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000454252|nonsense_mediated_decay|5/6|n.*361A>G|||||4015|,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000439346|nonsense_mediated_decay||n.-1A>G|||||58|,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382565|protein_coding|2/4|c.319+9097A>G||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382578|protein_coding|2/12|c.320-5821A>G||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000403642|protein_coding|1/11|c.320-5821A>G||||||,C|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay|3/16|n.381A>G||||||,C|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000417588|nonsense_mediated_decay|2/13|n.381A>G||||||,C|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433728|nonsense_mediated_decay|2/13|n.381A>G||||||,C|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000448511|nonsense_mediated_decay|2/14|n.381A>G||||||,C|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433028|nonsense_mediated_decay|3/10|n.381A>G||||||,C|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000454252|nonsense_mediated_decay|5/6|n.*361A>G|||||| 22 29121360 . A T . . ANN=T|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000382580|protein_coding|3/15|c.449-5T>A||||||,T|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000348295|protein_coding|2/13|c.320-5T>A||||||,T|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000382566|protein_coding|2/13|c.320-5T>A||||||,T|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay|2/15|n.320-5T>A||||||,T|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding|2/15|c.-458-5T>A||||||,T|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000404276|protein_coding|1/13|c.320-5T>A||||||,T|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000328354|protein_coding|2/14|c.320-5T>A||||||,T|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000405598|protein_coding|3/15|c.320-5T>A||||||,T|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000417588|nonsense_mediated_decay|1/12|n.320-5T>A||||||,T|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000433728|nonsense_mediated_decay|1/12|n.320-5T>A||||||,T|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000448511|nonsense_mediated_decay|1/13|n.320-5T>A||||||,T|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000402731|protein_coding|1/12|c.320-5T>A||||||,T|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000447421|protein_coding|1/7|c.320-5T>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000433028|nonsense_mediated_decay|2/9|n.320-5T>A||||||,T|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding|1/8|c.-344-5T>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000439200|protein_coding|3/6|c.413-5T>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000454252|nonsense_mediated_decay|4/5|n.*300-5T>A||||||,T|splice_region_variant&intron_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000398017|protein_coding|4/5|c.350-5T>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000404276|protein_coding|2/14|c.320-5T>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000404276|protein_coding|1/14|c.320-5T>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000402731|protein_coding|2/13|c.320-5T>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000402731|protein_coding|1/13|c.320-5T>A||||||,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000439346|nonsense_mediated_decay||n.-1T>A|||||124|,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382565|protein_coding|2/4|c.319+9031T>A||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382578|protein_coding|2/12|c.320-5887T>A||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000403642|protein_coding|1/11|c.320-5887T>A|||||| 22 29130347 . G GT . . ANN=T|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000404276|protein_coding|2/14|c.319+43dupA||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000404276|protein_coding|1/14|c.319+43dupA||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000402731|protein_coding|2/13|c.319+43dupA||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000402731|protein_coding|1/13|c.319+43dupA||||||,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000454252|nonsense_mediated_decay||n.-1dupA|||||3859|,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382580|protein_coding|2/15|c.319+43dupA||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000348295|protein_coding|2/13|c.319+43dupA||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382565|protein_coding|2/4|c.319+43dupA||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382566|protein_coding|2/13|c.319+43dupA||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382578|protein_coding|2/12|c.319+43dupA||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay|2/15|n.319+43dupA||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding|2/15|c.-459+43dupA||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000404276|protein_coding|1/13|c.319+43dupA||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000328354|protein_coding|2/14|c.319+43dupA||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000405598|protein_coding|3/15|c.319+43dupA||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000417588|nonsense_mediated_decay|1/12|n.319+43dupA||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433728|nonsense_mediated_decay|1/12|n.319+43dupA||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000448511|nonsense_mediated_decay|1/13|n.319+43dupA||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000402731|protein_coding|1/12|c.319+43dupA||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000403642|protein_coding|1/11|c.319+43dupA||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000447421|protein_coding|1/7|c.319+43dupA||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433028|nonsense_mediated_decay|2/9|n.319+43dupA||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding|1/8|c.-345+7409dupA||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000439200|protein_coding|2/6|c.319+43dupA||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000398017|protein_coding|4/5|c.349+43dupA||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 29130456 . G A . . ANN=A|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000382580|protein_coding|2/16|c.254C>T|p.Pro85Leu|330/1971|254/1761|85/586||,A|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000348295|protein_coding|2/14|c.254C>T|p.Pro85Leu|326/1771|254/1545|85/514||,A|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000382565|protein_coding|2/5|c.254C>T|p.Pro85Leu|326/718|254/492|85/163||,A|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000382566|protein_coding|2/14|c.254C>T|p.Pro85Leu|326/1796|254/870|85/289||,A|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000382578|protein_coding|2/13|c.254C>T|p.Pro85Leu|326/1585|254/1359|85/452||,A|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000404276|protein_coding|1/14|c.254C>T|p.Pro85Leu|254/1785|254/1632|85/543||,A|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000328354|protein_coding|2/15|c.254C>T|p.Pro85Leu|336/1867|254/1632|85/543||,A|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000405598|protein_coding|3/16|c.254C>T|p.Pro85Leu|446/1959|254/1632|85/543||,A|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000402731|protein_coding|1/13|c.254C>T|p.Pro85Leu|254/1545|254/1545|85/514||,A|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000403642|protein_coding|1/12|c.254C>T|p.Pro85Leu|254/1359|254/1359|85/452||,A|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000447421|protein_coding|1/8|c.254C>T|p.Pro85Leu|260/903|254/897|85/298||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000439200|protein_coding|2/7|c.254C>T|p.Pro85Leu|275/906|254/885|85/294||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000398017|protein_coding|4/6|c.284C>T|p.Pro95Leu|481/713|284/516|95/171||WARNING_TRANSCRIPT_NO_STOP_CODON,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding|2/16|c.-524C>T||||||,A|5_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding|2/16|c.-524C>T|||||15054|,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000454252|nonsense_mediated_decay||n.-1C>T|||||3967|,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding|1/8|c.-345+7301C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay|2/16|n.254C>T||||||,A|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000417588|nonsense_mediated_decay|1/13|n.254C>T||||||,A|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433728|nonsense_mediated_decay|1/13|n.254C>T||||||,A|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000448511|nonsense_mediated_decay|1/14|n.254C>T||||||,A|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433028|nonsense_mediated_decay|2/10|n.254C>T|||||| 22 29130458 . T C . . ANN=C|synonymous_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000382580|protein_coding|2/16|c.252A>G|p.Glu84Glu|328/1971|252/1761|84/586||,C|synonymous_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000348295|protein_coding|2/14|c.252A>G|p.Glu84Glu|324/1771|252/1545|84/514||,C|synonymous_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000382565|protein_coding|2/5|c.252A>G|p.Glu84Glu|324/718|252/492|84/163||,C|synonymous_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000382566|protein_coding|2/14|c.252A>G|p.Glu84Glu|324/1796|252/870|84/289||,C|synonymous_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000382578|protein_coding|2/13|c.252A>G|p.Glu84Glu|324/1585|252/1359|84/452||,C|synonymous_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000404276|protein_coding|1/14|c.252A>G|p.Glu84Glu|252/1785|252/1632|84/543||,C|synonymous_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000328354|protein_coding|2/15|c.252A>G|p.Glu84Glu|334/1867|252/1632|84/543||,C|synonymous_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000405598|protein_coding|3/16|c.252A>G|p.Glu84Glu|444/1959|252/1632|84/543||,C|synonymous_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000402731|protein_coding|1/13|c.252A>G|p.Glu84Glu|252/1545|252/1545|84/514||,C|synonymous_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000403642|protein_coding|1/12|c.252A>G|p.Glu84Glu|252/1359|252/1359|84/452||,C|synonymous_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000447421|protein_coding|1/8|c.252A>G|p.Glu84Glu|258/903|252/897|84/298||WARNING_TRANSCRIPT_NO_STOP_CODON,C|synonymous_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000439200|protein_coding|2/7|c.252A>G|p.Glu84Glu|273/906|252/885|84/294||WARNING_TRANSCRIPT_NO_STOP_CODON,C|synonymous_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000398017|protein_coding|4/6|c.282A>G|p.Glu94Glu|479/713|282/516|94/171||WARNING_TRANSCRIPT_NO_STOP_CODON,C|5_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding|2/16|c.-526A>G|||||15056|,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000454252|nonsense_mediated_decay||n.-1A>G|||||3969|,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding|1/8|c.-345+7299A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay|2/16|n.252A>G||||||,C|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000417588|nonsense_mediated_decay|1/13|n.252A>G||||||,C|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433728|nonsense_mediated_decay|1/13|n.252A>G||||||,C|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000448511|nonsense_mediated_decay|1/14|n.252A>G||||||,C|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433028|nonsense_mediated_decay|2/10|n.252A>G|||||| 22 29130637 . C T . . ANN=T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000382580|protein_coding|2/16|c.73G>A|p.Val25Ile|149/1971|73/1761|25/586||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000348295|protein_coding|2/14|c.73G>A|p.Val25Ile|145/1771|73/1545|25/514||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000382565|protein_coding|2/5|c.73G>A|p.Val25Ile|145/718|73/492|25/163||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000382566|protein_coding|2/14|c.73G>A|p.Val25Ile|145/1796|73/870|25/289||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000382578|protein_coding|2/13|c.73G>A|p.Val25Ile|145/1585|73/1359|25/452||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000404276|protein_coding|1/14|c.73G>A|p.Val25Ile|73/1785|73/1632|25/543||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000328354|protein_coding|2/15|c.73G>A|p.Val25Ile|155/1867|73/1632|25/543||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000405598|protein_coding|3/16|c.73G>A|p.Val25Ile|265/1959|73/1632|25/543||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000402731|protein_coding|1/13|c.73G>A|p.Val25Ile|73/1545|73/1545|25/514||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000403642|protein_coding|1/12|c.73G>A|p.Val25Ile|73/1359|73/1359|25/452||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000447421|protein_coding|1/8|c.73G>A|p.Val25Ile|79/903|73/897|25/298||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000439200|protein_coding|2/7|c.73G>A|p.Val25Ile|94/906|73/885|25/294||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000398017|protein_coding|4/6|c.103G>A|p.Val35Ile|300/713|103/516|35/171||WARNING_TRANSCRIPT_NO_STOP_CODON,T|5_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding|2/16|c.-705G>A|||||15235|,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000454252|nonsense_mediated_decay||n.-1G>A|||||4148|,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding|1/8|c.-345+7120G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay|2/16|n.73G>A||||||,T|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000417588|nonsense_mediated_decay|1/13|n.73G>A||||||,T|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433728|nonsense_mediated_decay|1/13|n.73G>A||||||,T|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000448511|nonsense_mediated_decay|1/14|n.73G>A||||||,T|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433028|nonsense_mediated_decay|2/10|n.73G>A|||||| 22 29130657 . C T . . ANN=T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000382580|protein_coding|2/16|c.53G>A|p.Cys18Tyr|129/1971|53/1761|18/586||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000348295|protein_coding|2/14|c.53G>A|p.Cys18Tyr|125/1771|53/1545|18/514||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000382565|protein_coding|2/5|c.53G>A|p.Cys18Tyr|125/718|53/492|18/163||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000382566|protein_coding|2/14|c.53G>A|p.Cys18Tyr|125/1796|53/870|18/289||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000382578|protein_coding|2/13|c.53G>A|p.Cys18Tyr|125/1585|53/1359|18/452||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000404276|protein_coding|1/14|c.53G>A|p.Cys18Tyr|53/1785|53/1632|18/543||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000328354|protein_coding|2/15|c.53G>A|p.Cys18Tyr|135/1867|53/1632|18/543||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000405598|protein_coding|3/16|c.53G>A|p.Cys18Tyr|245/1959|53/1632|18/543||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000402731|protein_coding|1/13|c.53G>A|p.Cys18Tyr|53/1545|53/1545|18/514||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000403642|protein_coding|1/12|c.53G>A|p.Cys18Tyr|53/1359|53/1359|18/452||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000447421|protein_coding|1/8|c.53G>A|p.Cys18Tyr|59/903|53/897|18/298||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000439200|protein_coding|2/7|c.53G>A|p.Cys18Tyr|74/906|53/885|18/294||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000398017|protein_coding|4/6|c.83G>A|p.Cys28Tyr|280/713|83/516|28/171||WARNING_TRANSCRIPT_NO_STOP_CODON,T|5_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding|2/16|c.-725G>A|||||15255|,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000454252|nonsense_mediated_decay||n.-1G>A|||||4168|,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding|1/8|c.-345+7100G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay|2/16|n.53G>A||||||,T|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000417588|nonsense_mediated_decay|1/13|n.53G>A||||||,T|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433728|nonsense_mediated_decay|1/13|n.53G>A||||||,T|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000448511|nonsense_mediated_decay|1/14|n.53G>A||||||,T|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433028|nonsense_mediated_decay|2/10|n.53G>A|||||| 22 29130695 . C T . . ANN=T|synonymous_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000382580|protein_coding|2/16|c.15G>A|p.Ser5Ser|91/1971|15/1761|5/586||,T|synonymous_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000348295|protein_coding|2/14|c.15G>A|p.Ser5Ser|87/1771|15/1545|5/514||,T|synonymous_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000382565|protein_coding|2/5|c.15G>A|p.Ser5Ser|87/718|15/492|5/163||,T|synonymous_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000382566|protein_coding|2/14|c.15G>A|p.Ser5Ser|87/1796|15/870|5/289||,T|synonymous_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000382578|protein_coding|2/13|c.15G>A|p.Ser5Ser|87/1585|15/1359|5/452||,T|synonymous_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000404276|protein_coding|1/14|c.15G>A|p.Ser5Ser|15/1785|15/1632|5/543||,T|synonymous_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000328354|protein_coding|2/15|c.15G>A|p.Ser5Ser|97/1867|15/1632|5/543||,T|synonymous_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000405598|protein_coding|3/16|c.15G>A|p.Ser5Ser|207/1959|15/1632|5/543||,T|synonymous_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000402731|protein_coding|1/13|c.15G>A|p.Ser5Ser|15/1545|15/1545|5/514||,T|synonymous_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000403642|protein_coding|1/12|c.15G>A|p.Ser5Ser|15/1359|15/1359|5/452||,T|synonymous_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000447421|protein_coding|1/8|c.15G>A|p.Ser5Ser|21/903|15/897|5/298||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000439200|protein_coding|2/7|c.15G>A|p.Ser5Ser|36/906|15/885|5/294||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000398017|protein_coding|4/6|c.45G>A|p.Ser15Ser|242/713|45/516|15/171||WARNING_TRANSCRIPT_NO_STOP_CODON,T|5_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding|2/16|c.-763G>A|||||15293|,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000454252|nonsense_mediated_decay||n.-1G>A|||||4206|,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding|1/8|c.-345+7062G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay|2/16|n.15G>A||||||,T|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000417588|nonsense_mediated_decay|1/13|n.15G>A||||||,T|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433728|nonsense_mediated_decay|1/13|n.15G>A||||||,T|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000448511|nonsense_mediated_decay|1/14|n.15G>A||||||,T|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433028|nonsense_mediated_decay|2/10|n.15G>A|||||| 22 29138115 . G A . . ANN=A|missense_variant|MODERATE|HSCB|ENSG00000100209|transcript|ENST00000216027|protein_coding|1/6|c.32G>A|p.Arg11Gln|97/1114|32/708|11/235||,A|missense_variant|MODERATE|HSCB|ENSG00000100209|transcript|ENST00000398941|protein_coding|1/5|c.32G>A|p.Arg11Gln|73/955|32/432|11/143||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay|1/16|n.-365C>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding|1/16|c.-1142C>T||||||,A|sequence_feature|LOW|HSCB|ENSG00000100209|transit_peptide:Mitochondrion|ENST00000216027|protein_coding|1/6|c.32G>A||||||,A|5_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay|1/16|n.-365C>T|||||7406|,A|5_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding|1/16|c.-1142C>T|||||22713|,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382580|protein_coding||c.-77C>T|||||289|,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000348295|protein_coding||c.-73C>T|||||293|,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382565|protein_coding||c.-73C>T|||||293|,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382566|protein_coding||c.-73C>T|||||293|,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382578|protein_coding||c.-73C>T|||||293|,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000328354|protein_coding||c.-83C>T|||||283|,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000405598|protein_coding||c.-193C>T|||||327|,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433028|nonsense_mediated_decay||n.-45C>T|||||321|,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding||c.-388C>T|||||316|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000439200|protein_coding||c.-22C>T|||||344|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000398017|protein_coding||c.-198C>T|||||325|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000485599|processed_transcript||n.-1G>A|||||24|,A|upstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000483861|processed_transcript||n.-1G>A|||||552|,A|upstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000495977|processed_transcript||n.-1G>A|||||574|,A|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay|1/16|n.-365C>T||||||,A|non_coding_exon_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000450178|nonsense_mediated_decay|1/6|n.32G>A||||||,A|non_coding_exon_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000420442|nonsense_mediated_decay|1/6|n.32G>A|||||| 22 29138293 . T C . . ANN=C|synonymous_variant|LOW|HSCB|ENSG00000100209|transcript|ENST00000216027|protein_coding|1/6|c.210T>C|p.Thr70Thr|275/1114|210/708|70/235||,C|synonymous_variant|LOW|HSCB|ENSG00000100209|transcript|ENST00000398941|protein_coding|1/5|c.210T>C|p.Thr70Thr|251/955|210/432|70/143||,C|5_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay|1/16|n.-543A>G|||||7584|,C|5_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding|1/16|c.-1320A>G|||||22891|,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382580|protein_coding||c.-77A>G|||||467|,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000348295|protein_coding||c.-73A>G|||||471|,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382565|protein_coding||c.-73A>G|||||471|,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382566|protein_coding||c.-73A>G|||||471|,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382578|protein_coding||c.-73A>G|||||471|,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000328354|protein_coding||c.-83A>G|||||461|,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000405598|protein_coding||c.-193A>G|||||505|,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433028|nonsense_mediated_decay||n.-45A>G|||||499|,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding||c.-388A>G|||||494|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000439200|protein_coding||c.-22A>G|||||522|WARNING_TRANSCRIPT_NO_STOP_CODON,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000398017|protein_coding||c.-198A>G|||||503|WARNING_TRANSCRIPT_NO_STOP_CODON,C|upstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000483861|processed_transcript||n.-1T>C|||||374|,C|upstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000495977|processed_transcript||n.-1T>C|||||396|,C|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay|1/16|n.-543A>G||||||,C|non_coding_exon_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000450178|nonsense_mediated_decay|1/6|n.210T>C||||||,C|non_coding_exon_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000420442|nonsense_mediated_decay|1/6|n.210T>C||||||,C|non_coding_exon_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000485599|processed_transcript|1/4|n.155T>C|||||| 22 29138301 . A G . . ANN=G|missense_variant|MODERATE|HSCB|ENSG00000100209|transcript|ENST00000216027|protein_coding|1/6|c.218A>G|p.Tyr73Cys|283/1114|218/708|73/235||,G|missense_variant|MODERATE|HSCB|ENSG00000100209|transcript|ENST00000398941|protein_coding|1/5|c.218A>G|p.Tyr73Cys|259/955|218/432|73/143||,G|sequence_feature|LOW|HSCB|ENSG00000100209|domain:J|ENST00000216027|protein_coding|1/6|c.218A>G||||||,G|sequence_feature|LOW|HSCB|ENSG00000100209|domain:J|ENST00000216027|protein_coding|4/6|c.218A>G||||||,G|sequence_feature|LOW|HSCB|ENSG00000100209|domain:J|ENST00000216027|protein_coding|3/6|c.218A>G||||||,G|sequence_feature|LOW|HSCB|ENSG00000100209|domain:J|ENST00000216027|protein_coding|2/6|c.218A>G||||||,G|sequence_feature|LOW|HSCB|ENSG00000100209|helix|ENST00000216027|protein_coding|1/6|c.218A>G||||||,G|5_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay|1/16|n.-551T>C|||||7592|,G|5_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding|1/16|c.-1328T>C|||||22899|,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382580|protein_coding||c.-77T>C|||||475|,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000348295|protein_coding||c.-73T>C|||||479|,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382565|protein_coding||c.-73T>C|||||479|,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382566|protein_coding||c.-73T>C|||||479|,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382578|protein_coding||c.-73T>C|||||479|,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000328354|protein_coding||c.-83T>C|||||469|,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000405598|protein_coding||c.-193T>C|||||513|,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433028|nonsense_mediated_decay||n.-45T>C|||||507|,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding||c.-388T>C|||||502|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000439200|protein_coding||c.-22T>C|||||530|WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000398017|protein_coding||c.-198T>C|||||511|WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000483861|processed_transcript||n.-1A>G|||||366|,G|upstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000495977|processed_transcript||n.-1A>G|||||388|,G|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay|1/16|n.-551T>C||||||,G|non_coding_exon_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000450178|nonsense_mediated_decay|1/6|n.218A>G||||||,G|non_coding_exon_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000420442|nonsense_mediated_decay|1/6|n.218A>G||||||,G|non_coding_exon_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000485599|processed_transcript|1/4|n.163A>G|||||| 22 29139897 . G A . . ANN=A|synonymous_variant|LOW|HSCB|ENSG00000100209|transcript|ENST00000216027|protein_coding|2/6|c.264G>A|p.Ala88Ala|329/1114|264/708|88/235||,A|synonymous_variant|LOW|HSCB|ENSG00000100209|transcript|ENST00000398941|protein_coding|2/5|c.264G>A|p.Ala88Ala|305/955|264/432|88/143||,A|sequence_feature|LOW|HSCB|ENSG00000100209|domain:J|ENST00000216027|protein_coding|1/6|c.264G>A||||||,A|sequence_feature|LOW|HSCB|ENSG00000100209|domain:J|ENST00000216027|protein_coding|4/6|c.264G>A||||||,A|sequence_feature|LOW|HSCB|ENSG00000100209|domain:J|ENST00000216027|protein_coding|3/6|c.264G>A||||||,A|sequence_feature|LOW|HSCB|ENSG00000100209|domain:J|ENST00000216027|protein_coding|2/6|c.264G>A||||||,A|sequence_feature|LOW|HSCB|ENSG00000100209|helix|ENST00000216027|protein_coding|2/6|c.264G>A||||||,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382580|protein_coding||c.-77C>T|||||2071|,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000348295|protein_coding||c.-73C>T|||||2075|,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382565|protein_coding||c.-73C>T|||||2075|,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382566|protein_coding||c.-73C>T|||||2075|,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382578|protein_coding||c.-73C>T|||||2075|,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay||n.-661C>T|||||1487|,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding||c.-1438C>T|||||1487|,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000328354|protein_coding||c.-83C>T|||||2065|,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000405598|protein_coding||c.-193C>T|||||2109|,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433028|nonsense_mediated_decay||n.-45C>T|||||2103|,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding||c.-388C>T|||||2098|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000439200|protein_coding||c.-22C>T|||||2126|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000398017|protein_coding||c.-198C>T|||||2107|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000450178|nonsense_mediated_decay|2/6|n.264G>A||||||,A|non_coding_exon_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000420442|nonsense_mediated_decay|2/6|n.264G>A||||||,A|non_coding_exon_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000485599|processed_transcript|2/4|n.209G>A||||||,A|non_coding_exon_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000483861|processed_transcript|2/6|n.78G>A||||||,A|non_coding_exon_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000495977|processed_transcript|2/6|n.56G>A|||||| 22 29139978 . G A . . ANN=A|sequence_feature|LOW|HSCB|ENSG00000100209|domain:J|ENST00000216027|protein_coding|1/6|c.333+12G>A||||||,A|sequence_feature|LOW|HSCB|ENSG00000100209|domain:J|ENST00000216027|protein_coding|4/6|c.333+12G>A||||||,A|sequence_feature|LOW|HSCB|ENSG00000100209|domain:J|ENST00000216027|protein_coding|3/6|c.333+12G>A||||||,A|sequence_feature|LOW|HSCB|ENSG00000100209|domain:J|ENST00000216027|protein_coding|2/6|c.333+12G>A||||||,A|sequence_feature|LOW|HSCB|ENSG00000100209|helix|ENST00000216027|protein_coding|3/6|c.333+12G>A||||||,A|sequence_feature|LOW|HSCB|ENSG00000100209|helix|ENST00000216027|protein_coding|2/6|c.333+12G>A||||||,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382580|protein_coding||c.-77C>T|||||2152|,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000348295|protein_coding||c.-73C>T|||||2156|,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382565|protein_coding||c.-73C>T|||||2156|,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382566|protein_coding||c.-73C>T|||||2156|,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382578|protein_coding||c.-73C>T|||||2156|,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay||n.-661C>T|||||1568|,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding||c.-1438C>T|||||1568|,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000328354|protein_coding||c.-83C>T|||||2146|,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000405598|protein_coding||c.-193C>T|||||2190|,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433028|nonsense_mediated_decay||n.-45C>T|||||2184|,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding||c.-388C>T|||||2179|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000439200|protein_coding||c.-22C>T|||||2207|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000398017|protein_coding||c.-198C>T|||||2188|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000216027|protein_coding|2/5|c.333+12G>A||||||,A|intron_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000450178|nonsense_mediated_decay|2/5|n.278+67G>A||||||,A|intron_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000398941|protein_coding|2/4|c.333+12G>A||||||,A|intron_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000420442|nonsense_mediated_decay|2/5|n.333+12G>A||||||,A|intron_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000485599|processed_transcript|2/3|n.278+12G>A||||||,A|intron_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000483861|processed_transcript|2/5|n.147+12G>A||||||,A|intron_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000495977|processed_transcript|2/5|n.125+12G>A|||||| 22 29140559 . T C . . ANN=C|sequence_feature|LOW|HSCB|ENSG00000100209|domain:J|ENST00000216027|protein_coding|1/6|c.334-44T>C||||||,C|sequence_feature|LOW|HSCB|ENSG00000100209|domain:J|ENST00000216027|protein_coding|4/6|c.334-44T>C||||||,C|sequence_feature|LOW|HSCB|ENSG00000100209|domain:J|ENST00000216027|protein_coding|3/6|c.334-44T>C||||||,C|sequence_feature|LOW|HSCB|ENSG00000100209|domain:J|ENST00000216027|protein_coding|2/6|c.334-44T>C||||||,C|sequence_feature|LOW|HSCB|ENSG00000100209|helix|ENST00000216027|protein_coding|3/6|c.334-44T>C||||||,C|sequence_feature|LOW|HSCB|ENSG00000100209|helix|ENST00000216027|protein_coding|2/6|c.334-44T>C||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382580|protein_coding||c.-77A>G|||||2733|,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000348295|protein_coding||c.-73A>G|||||2737|,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382565|protein_coding||c.-73A>G|||||2737|,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382566|protein_coding||c.-73A>G|||||2737|,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382578|protein_coding||c.-73A>G|||||2737|,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay||n.-661A>G|||||2149|,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding||c.-1438A>G|||||2149|,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000328354|protein_coding||c.-83A>G|||||2727|,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000405598|protein_coding||c.-193A>G|||||2771|,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433028|nonsense_mediated_decay||n.-45A>G|||||2765|,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding||c.-388A>G|||||2760|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000439200|protein_coding||c.-22A>G|||||2788|WARNING_TRANSCRIPT_NO_STOP_CODON,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000398017|protein_coding||c.-198A>G|||||2769|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000216027|protein_coding|2/5|c.334-44T>C||||||,C|intron_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000450178|nonsense_mediated_decay|2/5|n.279-44T>C||||||,C|intron_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000398941|protein_coding|2/4|c.334-44T>C||||||,C|intron_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000420442|nonsense_mediated_decay|2/5|n.334-44T>C||||||,C|intron_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000485599|processed_transcript|2/3|n.279-44T>C||||||,C|intron_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000483861|processed_transcript|2/5|n.148-44T>C||||||,C|intron_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000495977|processed_transcript|2/5|n.126-44T>C|||||| 22 29140662 . C T . . ANN=T|synonymous_variant|LOW|HSCB|ENSG00000100209|transcript|ENST00000216027|protein_coding|3/6|c.393C>T|p.Leu131Leu|458/1114|393/708|131/235||,T|synonymous_variant|LOW|HSCB|ENSG00000100209|transcript|ENST00000398941|protein_coding|3/5|c.393C>T|p.Leu131Leu|434/955|393/432|131/143||,T|sequence_feature|LOW|HSCB|ENSG00000100209|domain:J|ENST00000216027|protein_coding|1/6|c.393C>T||||||,T|sequence_feature|LOW|HSCB|ENSG00000100209|domain:J|ENST00000216027|protein_coding|4/6|c.393C>T||||||,T|sequence_feature|LOW|HSCB|ENSG00000100209|domain:J|ENST00000216027|protein_coding|3/6|c.393C>T||||||,T|sequence_feature|LOW|HSCB|ENSG00000100209|domain:J|ENST00000216027|protein_coding|2/6|c.393C>T||||||,T|sequence_feature|LOW|HSCB|ENSG00000100209|helix|ENST00000216027|protein_coding|3/6|c.393C>T||||||,T|sequence_feature|LOW|HSCB|ENSG00000100209|helix|ENST00000216027|protein_coding|2/6|c.393C>T||||||,T|3_prime_UTR_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000450178|nonsense_mediated_decay|3/6|n.*20C>T|||||20|,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382580|protein_coding||c.-77G>A|||||2836|,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000348295|protein_coding||c.-73G>A|||||2840|,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382565|protein_coding||c.-73G>A|||||2840|,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382566|protein_coding||c.-73G>A|||||2840|,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382578|protein_coding||c.-73G>A|||||2840|,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay||n.-661G>A|||||2252|,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding||c.-1438G>A|||||2252|,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000328354|protein_coding||c.-83G>A|||||2830|,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000405598|protein_coding||c.-193G>A|||||2874|,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433028|nonsense_mediated_decay||n.-45G>A|||||2868|,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding||c.-388G>A|||||2863|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000439200|protein_coding||c.-22G>A|||||2891|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000398017|protein_coding||c.-198G>A|||||2872|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000450178|nonsense_mediated_decay|3/6|n.*20C>T||||||,T|non_coding_exon_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000420442|nonsense_mediated_decay|3/6|n.393C>T||||||,T|non_coding_exon_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000485599|processed_transcript|3/4|n.338C>T||||||,T|non_coding_exon_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000483861|processed_transcript|3/6|n.207C>T||||||,T|non_coding_exon_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000495977|processed_transcript|3/6|n.185C>T|||||| 22 29141917 . A G . . ANN=G|missense_variant|MODERATE|HSCB|ENSG00000100209|transcript|ENST00000216027|protein_coding|4/6|c.489A>G|p.Ile163Met|554/1114|489/708|163/235||,G|sequence_feature|LOW|HSCB|ENSG00000100209|helix|ENST00000216027|protein_coding|4/6|c.489A>G||||||,G|3_prime_UTR_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000450178|nonsense_mediated_decay|4/6|n.*116A>G|||||1275|,G|3_prime_UTR_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000420442|nonsense_mediated_decay|4/6|n.*62A>G|||||62|,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382580|protein_coding||c.-77T>C|||||4091|,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000348295|protein_coding||c.-73T>C|||||4095|,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382565|protein_coding||c.-73T>C|||||4095|,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382566|protein_coding||c.-73T>C|||||4095|,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382578|protein_coding||c.-73T>C|||||4095|,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay||n.-661T>C|||||3507|,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding||c.-1438T>C|||||3507|,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000328354|protein_coding||c.-83T>C|||||4085|,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000405598|protein_coding||c.-193T>C|||||4129|,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433028|nonsense_mediated_decay||n.-45T>C|||||4123|,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding||c.-388T>C|||||4118|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000439200|protein_coding||c.-22T>C|||||4146|WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000398017|protein_coding||c.-198T>C|||||4127|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000485599|processed_transcript||n.*656A>G|||||386|,G|intron_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000398941|protein_coding|3/4|c.428+1220A>G||||||,G|non_coding_exon_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000450178|nonsense_mediated_decay|4/6|n.*116A>G||||||,G|non_coding_exon_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000420442|nonsense_mediated_decay|4/6|n.*62A>G||||||,G|non_coding_exon_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000483861|processed_transcript|4/6|n.303A>G||||||,G|non_coding_exon_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000495977|processed_transcript|4/6|n.286A>G|||||| 22 29141927 . G T . . ANN=T|stop_gained|HIGH|HSCB|ENSG00000100209|transcript|ENST00000216027|protein_coding|4/6|c.499G>T|p.Glu167*|564/1114|499/708|167/235||,T|sequence_feature|LOW|HSCB|ENSG00000100209|helix|ENST00000216027|protein_coding|4/6|c.499G>T||||||,T|3_prime_UTR_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000450178|nonsense_mediated_decay|4/6|n.*126G>T|||||1285|,T|3_prime_UTR_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000420442|nonsense_mediated_decay|4/6|n.*72G>T|||||72|,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382580|protein_coding||c.-77C>A|||||4101|,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000348295|protein_coding||c.-73C>A|||||4105|,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382565|protein_coding||c.-73C>A|||||4105|,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382566|protein_coding||c.-73C>A|||||4105|,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382578|protein_coding||c.-73C>A|||||4105|,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay||n.-661C>A|||||3517|,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding||c.-1438C>A|||||3517|,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000328354|protein_coding||c.-83C>A|||||4095|,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000405598|protein_coding||c.-193C>A|||||4139|,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433028|nonsense_mediated_decay||n.-45C>A|||||4133|,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding||c.-388C>A|||||4128|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000439200|protein_coding||c.-22C>A|||||4156|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000398017|protein_coding||c.-198C>A|||||4137|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000485599|processed_transcript||n.*656G>T|||||396|,T|intron_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000398941|protein_coding|3/4|c.428+1230G>T||||||,T|non_coding_exon_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000450178|nonsense_mediated_decay|4/6|n.*126G>T||||||,T|non_coding_exon_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000420442|nonsense_mediated_decay|4/6|n.*72G>T||||||,T|non_coding_exon_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000483861|processed_transcript|4/6|n.313G>T||||||,T|non_coding_exon_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000495977|processed_transcript|4/6|n.296G>T||||||;LOF=(HSCB|ENSG00000100209|7|0.14);NMD=(HSCB|ENSG00000100209|7|0.14) 22 29141930 . A C . . ANN=C|missense_variant|MODERATE|HSCB|ENSG00000100209|transcript|ENST00000216027|protein_coding|4/6|c.502A>C|p.Ile168Leu|567/1114|502/708|168/235||,C|sequence_feature|LOW|HSCB|ENSG00000100209|helix|ENST00000216027|protein_coding|4/6|c.502A>C||||||,C|3_prime_UTR_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000450178|nonsense_mediated_decay|4/6|n.*129A>C|||||1288|,C|3_prime_UTR_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000420442|nonsense_mediated_decay|4/6|n.*75A>C|||||75|,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382580|protein_coding||c.-77T>G|||||4104|,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000348295|protein_coding||c.-73T>G|||||4108|,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382565|protein_coding||c.-73T>G|||||4108|,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382566|protein_coding||c.-73T>G|||||4108|,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382578|protein_coding||c.-73T>G|||||4108|,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay||n.-661T>G|||||3520|,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding||c.-1438T>G|||||3520|,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000328354|protein_coding||c.-83T>G|||||4098|,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000405598|protein_coding||c.-193T>G|||||4142|,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433028|nonsense_mediated_decay||n.-45T>G|||||4136|,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding||c.-388T>G|||||4131|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000439200|protein_coding||c.-22T>G|||||4159|WARNING_TRANSCRIPT_NO_STOP_CODON,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000398017|protein_coding||c.-198T>G|||||4140|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000485599|processed_transcript||n.*656A>C|||||399|,C|intron_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000398941|protein_coding|3/4|c.428+1233A>C||||||,C|non_coding_exon_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000450178|nonsense_mediated_decay|4/6|n.*129A>C||||||,C|non_coding_exon_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000420442|nonsense_mediated_decay|4/6|n.*75A>C||||||,C|non_coding_exon_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000483861|processed_transcript|4/6|n.316A>C||||||,C|non_coding_exon_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000495977|processed_transcript|4/6|n.299A>C|||||| 22 29142035 . T C . . ANN=C|sequence_feature|LOW|HSCB|ENSG00000100209|helix|ENST00000216027|protein_coding|5/6|c.568+39T>C||||||,C|sequence_feature|LOW|HSCB|ENSG00000100209|helix|ENST00000216027|protein_coding|4/6|c.568+39T>C||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382580|protein_coding||c.-77A>G|||||4209|,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000348295|protein_coding||c.-73A>G|||||4213|,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382565|protein_coding||c.-73A>G|||||4213|,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382566|protein_coding||c.-73A>G|||||4213|,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382578|protein_coding||c.-73A>G|||||4213|,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay||n.-661A>G|||||3625|,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding||c.-1438A>G|||||3625|,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000328354|protein_coding||c.-83A>G|||||4203|,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000405598|protein_coding||c.-193A>G|||||4247|,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433028|nonsense_mediated_decay||n.-45A>G|||||4241|,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding||c.-388A>G|||||4236|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000439200|protein_coding||c.-22A>G|||||4264|WARNING_TRANSCRIPT_NO_STOP_CODON,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000398017|protein_coding||c.-198A>G|||||4245|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000485599|processed_transcript||n.*656T>C|||||504|,C|intron_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000216027|protein_coding|4/5|c.568+39T>C||||||,C|intron_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000450178|nonsense_mediated_decay|4/5|n.*195+39T>C||||||,C|intron_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000398941|protein_coding|3/4|c.428+1338T>C||||||,C|intron_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000420442|nonsense_mediated_decay|4/5|n.*141+39T>C||||||,C|intron_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000483861|processed_transcript|4/5|n.382+39T>C||||||,C|intron_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000495977|processed_transcript|4/5|n.365+39T>C|||||| 22 29147195 . A G . . ANN=G|sequence_feature|LOW|HSCB|ENSG00000100209|helix|ENST00000216027|protein_coding|5/6|c.569-34A>G||||||,G|sequence_feature|LOW|HSCB|ENSG00000100209|helix|ENST00000216027|protein_coding|4/6|c.569-34A>G||||||,G|intron_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000216027|protein_coding|4/5|c.569-34A>G||||||,G|intron_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000450178|nonsense_mediated_decay|4/5|n.*196-34A>G||||||,G|intron_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000398941|protein_coding|3/4|c.429-34A>G||||||,G|intron_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000420442|nonsense_mediated_decay|4/5|n.*142-34A>G||||||,G|intron_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000483861|processed_transcript|4/5|n.383-34A>G||||||,G|intron_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000495977|processed_transcript|4/5|n.366-34A>G|||||| 22 29147293 . A G . . ANN=G|intron_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000216027|protein_coding|5/5|c.616+17A>G||||||,G|intron_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000450178|nonsense_mediated_decay|5/5|n.*243+17A>G||||||,G|intron_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000398941|protein_coding|4/4|c.*44+17A>G||||||,G|intron_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000420442|nonsense_mediated_decay|5/5|n.*189+17A>G||||||,G|intron_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000483861|processed_transcript|5/5|n.430+17A>G||||||,G|intron_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000495977|processed_transcript|5/5|n.413+17A>G|||||| 22 29147323 . C T . . ANN=T|intron_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000216027|protein_coding|5/5|c.616+47C>T||||||,T|intron_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000450178|nonsense_mediated_decay|5/5|n.*243+47C>T||||||,T|intron_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000398941|protein_coding|4/4|c.*44+47C>T||||||,T|intron_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000420442|nonsense_mediated_decay|5/5|n.*189+47C>T||||||,T|intron_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000483861|processed_transcript|5/5|n.430+47C>T||||||,T|intron_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000495977|processed_transcript|5/5|n.413+47C>T|||||| 22 29153031 . A G . . ANN=G|intron_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000216027|protein_coding|5/5|c.617-35A>G||||||,G|intron_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000450178|nonsense_mediated_decay|5/5|n.*244-35A>G||||||,G|intron_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000398941|protein_coding|4/4|c.*45-35A>G||||||,G|intron_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000420442|nonsense_mediated_decay|5/5|n.*190-35A>G||||||,G|intron_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000483861|processed_transcript|5/5|n.431-35A>G||||||,G|intron_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000495977|processed_transcript|5/5|n.414-35A>G|||||| 22 29153049 . GTC G . . ANN=|intron_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000216027|protein_coding|5/5|c.617-13_617-12delCT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000450178|nonsense_mediated_decay|5/5|n.*244-13_*244-12delCT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000398941|protein_coding|4/4|c.*45-13_*45-12delCT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000420442|nonsense_mediated_decay|5/5|n.*190-13_*190-12delCT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000483861|processed_transcript|5/5|n.431-13_431-12delCT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000495977|processed_transcript|5/5|n.414-13_414-12delCT||||||INFO_REALIGN_3_PRIME 22 29169063 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000453543|nonsense_mediated_decay|1/5|n.*37G>A|||||37|,A|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000443309|protein_coding||c.-292G>A|||||69|,A|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000432510|protein_coding||c.-358G>A|||||166|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000249064|protein_coding|1/4|c.185+41G>A||||||,A|intron_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000444523|protein_coding|1/1|c.185+41G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000448492|protein_coding|1/3|c.185+41G>A||||||,A|intron_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000421503|protein_coding|1/3|c.185+41G>A||||||,A|non_coding_exon_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000453543|nonsense_mediated_decay|1/5|n.*37G>A|||||| 22 29169681 . C G . . ANN=G|intron_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000249064|protein_coding|1/4|c.186-32C>G||||||,G|intron_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000453543|nonsense_mediated_decay|1/4|n.*186-32C>G||||||,G|intron_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000444523|protein_coding|1/1|c.185+659C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000448492|protein_coding|1/3|c.185+659C>G||||||,G|intron_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000421503|protein_coding|1/3|c.186-32C>G||||||,G|intron_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000443309|protein_coding|1/4|c.-211-32C>G||||||,G|intron_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000432510|protein_coding|1/4|c.-211-32C>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 29169709 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|CCDC117|ENSG00000159873|transcript|ENST00000249064|protein_coding|1/4|c.186-4A>G||||||,G|splice_region_variant&intron_variant|LOW|CCDC117|ENSG00000159873|transcript|ENST00000453543|nonsense_mediated_decay|1/4|n.*186-4A>G||||||,G|splice_region_variant&intron_variant|LOW|CCDC117|ENSG00000159873|transcript|ENST00000421503|protein_coding|1/3|c.186-4A>G||||||,G|splice_region_variant&intron_variant|LOW|CCDC117|ENSG00000159873|transcript|ENST00000443309|protein_coding|1/4|c.-211-4A>G||||||,G|splice_region_variant&intron_variant|LOW|CCDC117|ENSG00000159873|transcript|ENST00000432510|protein_coding|1/4|c.-211-4A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000444523|protein_coding|1/1|c.185+687A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000448492|protein_coding|1/3|c.185+687A>G|||||| 22 29169720 . G GTTCAC . . ANN=TCACT|frameshift_variant|HIGH|CCDC117|ENSG00000159873|transcript|ENST00000249064|protein_coding|2/5|c.195_199dupTCACT|p.Cys67fs|376/3985|200/840|67/279||INFO_REALIGN_3_PRIME,TCACT|frameshift_variant|HIGH|CCDC117|ENSG00000159873|transcript|ENST00000421503|protein_coding|2/4|c.195_199dupTCACT|p.Cys67fs|276/1137|200/615|67/204||INFO_REALIGN_3_PRIME,TCACT|5_prime_UTR_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000443309|protein_coding|2/5|c.-202_-198dupTCACT|||||7366|INFO_REALIGN_3_PRIME,TCACT|5_prime_UTR_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000432510|protein_coding|2/5|c.-202_-198dupTCACT|||||7366|WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME,TCACT|3_prime_UTR_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000453543|nonsense_mediated_decay|2/5|n.*195_*199dupTCACT|||||701|INFO_REALIGN_3_PRIME,TCACT|intron_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000444523|protein_coding|1/1|c.185+700_185+704dupTCACT||||||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME,TCACT|intron_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000448492|protein_coding|1/3|c.185+700_185+704dupTCACT||||||INFO_REALIGN_3_PRIME,TCACT|non_coding_exon_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000453543|nonsense_mediated_decay|2/5|n.*195_*199dupTCACT||||||INFO_REALIGN_3_PRIME;LOF=(CCDC117|ENSG00000159873|7|0.29) 22 29169729 . A G . . ANN=G|missense_variant|MODERATE|CCDC117|ENSG00000159873|transcript|ENST00000249064|protein_coding|2/5|c.202A>G|p.Lys68Glu|378/3985|202/840|68/279||,G|missense_variant|MODERATE|CCDC117|ENSG00000159873|transcript|ENST00000421503|protein_coding|2/4|c.202A>G|p.Lys68Glu|278/1137|202/615|68/204||,G|5_prime_UTR_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000443309|protein_coding|2/5|c.-195A>G|||||7364|,G|5_prime_UTR_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000432510|protein_coding|2/5|c.-195A>G|||||7364|WARNING_TRANSCRIPT_INCOMPLETE,G|3_prime_UTR_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000453543|nonsense_mediated_decay|2/5|n.*202A>G|||||703|,G|intron_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000444523|protein_coding|1/1|c.185+707A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000448492|protein_coding|1/3|c.185+707A>G||||||,G|non_coding_exon_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000453543|nonsense_mediated_decay|2/5|n.*202A>G|||||| 22 29169761 . T G . . ANN=G|missense_variant|MODERATE|CCDC117|ENSG00000159873|transcript|ENST00000249064|protein_coding|2/5|c.234T>G|p.Asp78Glu|410/3985|234/840|78/279||,G|missense_variant|MODERATE|CCDC117|ENSG00000159873|transcript|ENST00000421503|protein_coding|2/4|c.234T>G|p.Asp78Glu|310/1137|234/615|78/204||,G|5_prime_UTR_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000443309|protein_coding|2/5|c.-163T>G|||||7332|,G|5_prime_UTR_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000432510|protein_coding|2/5|c.-163T>G|||||7332|WARNING_TRANSCRIPT_INCOMPLETE,G|3_prime_UTR_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000453543|nonsense_mediated_decay|2/5|n.*234T>G|||||735|,G|intron_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000444523|protein_coding|1/1|c.185+739T>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000448492|protein_coding|1/3|c.185+739T>G||||||,G|non_coding_exon_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000453543|nonsense_mediated_decay|2/5|n.*234T>G|||||| 22 29169810 . T C . . ANN=C|intron_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000249064|protein_coding|2/4|c.239+44T>C||||||,C|intron_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000453543|nonsense_mediated_decay|2/4|n.*239+44T>C||||||,C|intron_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000444523|protein_coding|1/1|c.185+788T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000448492|protein_coding|1/3|c.185+788T>C||||||,C|intron_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000421503|protein_coding|2/3|c.239+44T>C||||||,C|intron_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000443309|protein_coding|2/4|c.-158+44T>C||||||,C|intron_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000432510|protein_coding|2/4|c.-158+44T>C||||||WARNING_TRANSCRIPT_INCOMPLETE 22 29176976 . T C . . ANN=C|missense_variant|MODERATE|CCDC117|ENSG00000159873|transcript|ENST00000249064|protein_coding|3/5|c.280T>C|p.Cys94Arg|456/3985|280/840|94/279||,C|missense_variant|MODERATE|CCDC117|ENSG00000159873|transcript|ENST00000444523|protein_coding|2/2|c.226T>C|p.Cys76Arg|348/463|226/341|76/112||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|CCDC117|ENSG00000159873|transcript|ENST00000448492|protein_coding|2/4|c.226T>C|p.Cys76Arg|348/1035|226/786|76/261||,C|5_prime_UTR_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000443309|protein_coding|3/5|c.-117T>C|||||117|,C|5_prime_UTR_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000432510|protein_coding|3/5|c.-117T>C|||||117|WARNING_TRANSCRIPT_INCOMPLETE,C|3_prime_UTR_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000453543|nonsense_mediated_decay|3/5|n.*280T>C|||||7950|,C|intron_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000421503|protein_coding|2/3|c.240-2520T>C||||||,C|non_coding_exon_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000453543|nonsense_mediated_decay|3/5|n.*280T>C|||||| 22 29177074 . A G . . ANN=G|synonymous_variant|LOW|CCDC117|ENSG00000159873|transcript|ENST00000249064|protein_coding|3/5|c.378A>G|p.Leu126Leu|554/3985|378/840|126/279||,G|synonymous_variant|LOW|CCDC117|ENSG00000159873|transcript|ENST00000444523|protein_coding|2/2|c.324A>G|p.Leu108Leu|446/463|324/341|108/112||WARNING_TRANSCRIPT_INCOMPLETE,G|synonymous_variant|LOW|CCDC117|ENSG00000159873|transcript|ENST00000448492|protein_coding|2/4|c.324A>G|p.Leu108Leu|446/1035|324/786|108/261||,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|CCDC117|ENSG00000159873|transcript|ENST00000443309|protein_coding|3/5|c.-19A>G||||||,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|CCDC117|ENSG00000159873|transcript|ENST00000432510|protein_coding|3/5|c.-19A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|5_prime_UTR_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000443309|protein_coding|3/5|c.-19A>G|||||19|,G|5_prime_UTR_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000432510|protein_coding|3/5|c.-19A>G|||||19|WARNING_TRANSCRIPT_INCOMPLETE,G|3_prime_UTR_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000453543|nonsense_mediated_decay|3/5|n.*378A>G|||||8048|,G|intron_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000421503|protein_coding|2/3|c.240-2422A>G||||||,G|non_coding_exon_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000453543|nonsense_mediated_decay|3/5|n.*378A>G|||||| 22 29177136 . G C . . ANN=C|missense_variant|MODERATE|CCDC117|ENSG00000159873|transcript|ENST00000249064|protein_coding|3/5|c.440G>C|p.Arg147Thr|616/3985|440/840|147/279||,C|missense_variant|MODERATE|CCDC117|ENSG00000159873|transcript|ENST00000448492|protein_coding|2/4|c.386G>C|p.Arg129Thr|508/1035|386/786|129/261||,C|missense_variant|MODERATE|CCDC117|ENSG00000159873|transcript|ENST00000443309|protein_coding|3/5|c.44G>C|p.Arg15Thr|335/1085|44/444|15/147||,C|missense_variant|MODERATE|CCDC117|ENSG00000159873|transcript|ENST00000432510|protein_coding|3/5|c.44G>C|p.Arg15Thr|401/568|44/211|15/69||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|CCDC117|ENSG00000159873|coiled-coil_region|ENST00000249064|protein_coding|4/5|c.440G>C||||||,C|sequence_feature|LOW|CCDC117|ENSG00000159873|coiled-coil_region|ENST00000249064|protein_coding|3/5|c.440G>C||||||,C|sequence_feature|LOW|CCDC117|ENSG00000159873|coiled-coil_region|ENST00000448492|protein_coding|3/4|c.386G>C||||||,C|sequence_feature|LOW|CCDC117|ENSG00000159873|coiled-coil_region|ENST00000448492|protein_coding|2/4|c.386G>C||||||,C|3_prime_UTR_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000453543|nonsense_mediated_decay|3/5|n.*440G>C|||||8110|,C|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000444523|protein_coding||c.*463G>C|||||45|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000421503|protein_coding|2/3|c.240-2360G>C||||||,C|non_coding_exon_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000453543|nonsense_mediated_decay|3/5|n.*440G>C|||||| 22 29177200 . C T . . ANN=T|sequence_feature|LOW|CCDC117|ENSG00000159873|coiled-coil_region|ENST00000249064|protein_coding|4/5|c.464+40C>T||||||,T|sequence_feature|LOW|CCDC117|ENSG00000159873|coiled-coil_region|ENST00000249064|protein_coding|3/5|c.464+40C>T||||||,T|sequence_feature|LOW|CCDC117|ENSG00000159873|coiled-coil_region|ENST00000448492|protein_coding|3/4|c.410+40C>T||||||,T|sequence_feature|LOW|CCDC117|ENSG00000159873|coiled-coil_region|ENST00000448492|protein_coding|2/4|c.410+40C>T||||||,T|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000444523|protein_coding||c.*463C>T|||||109|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000249064|protein_coding|3/4|c.464+40C>T||||||,T|intron_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000453543|nonsense_mediated_decay|3/4|n.*464+40C>T||||||,T|intron_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000448492|protein_coding|2/3|c.410+40C>T||||||,T|intron_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000421503|protein_coding|2/3|c.240-2296C>T||||||,T|intron_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000443309|protein_coding|3/4|c.68+40C>T||||||,T|intron_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000432510|protein_coding|3/4|c.68+40C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 29179482 . CTTAA C . . ANN=|splice_region_variant&intron_variant|LOW|CCDC117|ENSG00000159873|transcript|ENST00000249064|protein_coding|3/4|c.465-11_465-8delAATT||||||INFO_REALIGN_3_PRIME,|splice_region_variant&intron_variant|LOW|CCDC117|ENSG00000159873|transcript|ENST00000453543|nonsense_mediated_decay|3/4|n.*465-11_*465-8delAATT||||||INFO_REALIGN_3_PRIME,|splice_region_variant&intron_variant|LOW|CCDC117|ENSG00000159873|transcript|ENST00000448492|protein_coding|2/3|c.411-11_411-8delAATT||||||INFO_REALIGN_3_PRIME,|splice_region_variant&intron_variant|LOW|CCDC117|ENSG00000159873|transcript|ENST00000421503|protein_coding|2/3|c.240-11_240-8delAATT||||||INFO_REALIGN_3_PRIME,|splice_region_variant&intron_variant|LOW|CCDC117|ENSG00000159873|transcript|ENST00000443309|protein_coding|3/4|c.69-11_69-8delAATT||||||INFO_REALIGN_3_PRIME,|splice_region_variant&intron_variant|LOW|CCDC117|ENSG00000159873|transcript|ENST00000432510|protein_coding|3/4|c.69-11_69-8delAATT||||||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME,|sequence_feature|LOW|CCDC117|ENSG00000159873|coiled-coil_region|ENST00000249064|protein_coding|4/5|c.465-13_465-10delTTAA||||||,|sequence_feature|LOW|CCDC117|ENSG00000159873|coiled-coil_region|ENST00000249064|protein_coding|3/5|c.465-13_465-10delTTAA||||||,|sequence_feature|LOW|CCDC117|ENSG00000159873|coiled-coil_region|ENST00000448492|protein_coding|3/4|c.411-13_411-10delTTAA||||||,|sequence_feature|LOW|CCDC117|ENSG00000159873|coiled-coil_region|ENST00000448492|protein_coding|2/4|c.411-13_411-10delTTAA||||||,|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000444523|protein_coding||c.*463_*463delTTAA|||||2392|WARNING_TRANSCRIPT_INCOMPLETE 22 29179647 . C T . . ANN=T|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000444523|protein_coding||c.*463C>T|||||2556|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000249064|protein_coding|4/4|c.602+14C>T||||||,T|intron_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000453543|nonsense_mediated_decay|4/4|n.*602+14C>T||||||,T|intron_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000448492|protein_coding|3/3|c.548+14C>T||||||,T|intron_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000421503|protein_coding|3/3|c.377+14C>T||||||,T|intron_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000443309|protein_coding|4/4|c.206+14C>T||||||,T|intron_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000432510|protein_coding|4/4|c.206+14C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 29182070 . G C . . ANN=C|splice_region_variant&intron_variant|LOW|CCDC117|ENSG00000159873|transcript|ENST00000249064|protein_coding|4/4|c.603-7G>C||||||,C|splice_region_variant&intron_variant|LOW|CCDC117|ENSG00000159873|transcript|ENST00000453543|nonsense_mediated_decay|4/4|n.*603-7G>C||||||,C|splice_region_variant&intron_variant|LOW|CCDC117|ENSG00000159873|transcript|ENST00000448492|protein_coding|3/3|c.549-7G>C||||||,C|splice_region_variant&intron_variant|LOW|CCDC117|ENSG00000159873|transcript|ENST00000421503|protein_coding|3/3|c.378-7G>C||||||,C|splice_region_variant&intron_variant|LOW|CCDC117|ENSG00000159873|transcript|ENST00000443309|protein_coding|4/4|c.207-7G>C||||||,C|splice_region_variant&intron_variant|LOW|CCDC117|ENSG00000159873|transcript|ENST00000432510|protein_coding|4/4|c.207-7G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000444523|protein_coding||c.*463G>C|||||4979|WARNING_TRANSCRIPT_INCOMPLETE 22 29182147 . T A . . ANN=A|missense_variant|MODERATE|CCDC117|ENSG00000159873|transcript|ENST00000249064|protein_coding|5/5|c.673T>A|p.Ser225Thr|849/3985|673/840|225/279||,A|missense_variant|MODERATE|CCDC117|ENSG00000159873|transcript|ENST00000448492|protein_coding|4/4|c.619T>A|p.Ser207Thr|741/1035|619/786|207/261||,A|missense_variant|MODERATE|CCDC117|ENSG00000159873|transcript|ENST00000421503|protein_coding|4/4|c.448T>A|p.Ser150Thr|524/1137|448/615|150/204||,A|missense_variant|MODERATE|CCDC117|ENSG00000159873|transcript|ENST00000443309|protein_coding|5/5|c.277T>A|p.Ser93Thr|568/1085|277/444|93/147||,A|3_prime_UTR_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000453543|nonsense_mediated_decay|5/5|n.*673T>A|||||13121|,A|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000432510|protein_coding||c.*568T>A|||||66|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000453543|nonsense_mediated_decay|5/5|n.*673T>A|||||| 22 29182169 . C T . . ANN=T|missense_variant|MODERATE|CCDC117|ENSG00000159873|transcript|ENST00000249064|protein_coding|5/5|c.695C>T|p.Thr232Ile|871/3985|695/840|232/279||,T|missense_variant|MODERATE|CCDC117|ENSG00000159873|transcript|ENST00000448492|protein_coding|4/4|c.641C>T|p.Thr214Ile|763/1035|641/786|214/261||,T|missense_variant|MODERATE|CCDC117|ENSG00000159873|transcript|ENST00000421503|protein_coding|4/4|c.470C>T|p.Thr157Ile|546/1137|470/615|157/204||,T|missense_variant|MODERATE|CCDC117|ENSG00000159873|transcript|ENST00000443309|protein_coding|5/5|c.299C>T|p.Thr100Ile|590/1085|299/444|100/147||,T|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000453543|nonsense_mediated_decay||n.*335C>T|||||4|,T|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000432510|protein_coding||c.*568C>T|||||88|WARNING_TRANSCRIPT_INCOMPLETE 22 29182278 . G A . . ANN=A|synonymous_variant|LOW|CCDC117|ENSG00000159873|transcript|ENST00000249064|protein_coding|5/5|c.804G>A|p.Glu268Glu|980/3985|804/840|268/279||,A|synonymous_variant|LOW|CCDC117|ENSG00000159873|transcript|ENST00000448492|protein_coding|4/4|c.750G>A|p.Glu250Glu|872/1035|750/786|250/261||,A|synonymous_variant|LOW|CCDC117|ENSG00000159873|transcript|ENST00000421503|protein_coding|4/4|c.579G>A|p.Glu193Glu|655/1137|579/615|193/204||,A|synonymous_variant|LOW|CCDC117|ENSG00000159873|transcript|ENST00000443309|protein_coding|5/5|c.408G>A|p.Glu136Glu|699/1085|408/444|136/147||,A|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000453543|nonsense_mediated_decay||n.*335G>A|||||113|,A|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000432510|protein_coding||c.*568G>A|||||197|WARNING_TRANSCRIPT_INCOMPLETE 22 29191576 . C A . . ANN=A|missense_variant|MODERATE|XBP1|ENSG00000100219|transcript|ENST00000344347|protein_coding|6/6|c.718G>T|p.Val240Leu|718/1131|718/1131|240/376||,A|missense_variant|MODERATE|XBP1|ENSG00000100219|transcript|ENST00000216037|protein_coding|5/5|c.744G>T|p.Gln248His|817/1850|744/786|248/261||,A|missense_variant|MODERATE|XBP1|ENSG00000100219|transcript|ENST00000403532|protein_coding|5/5|c.759G>T|p.Gln253His|793/1824|759/801|253/266||,A|missense_variant|MODERATE|XBP1|ENSG00000100219|transcript|ENST00000405219|protein_coding|5/5|c.594G>T|p.Gln198His|691/1690|594/636|198/211||,A|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|transcript|ENST00000482720|retained_intron||n.*520G>T|||||3318|,A|non_coding_exon_variant|MODIFIER|XBP1|ENSG00000100219|transcript|ENST00000484256|retained_intron|2/2|n.1144G>T|||||| 22 29191668 . T C . . ANN=C|missense_variant|MODERATE|XBP1|ENSG00000100219|transcript|ENST00000344347|protein_coding|6/6|c.626A>G|p.Lys209Arg|626/1131|626/1131|209/376||,C|missense_variant|MODERATE|XBP1|ENSG00000100219|transcript|ENST00000216037|protein_coding|5/5|c.652A>G|p.Asn218Asp|725/1850|652/786|218/261||,C|missense_variant|MODERATE|XBP1|ENSG00000100219|transcript|ENST00000403532|protein_coding|5/5|c.667A>G|p.Asn223Asp|701/1824|667/801|223/266||,C|missense_variant|MODERATE|XBP1|ENSG00000100219|transcript|ENST00000405219|protein_coding|5/5|c.502A>G|p.Asn168Asp|599/1690|502/636|168/211||,C|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|transcript|ENST00000482720|retained_intron||n.*520A>G|||||3226|,C|non_coding_exon_variant|MODIFIER|XBP1|ENSG00000100219|transcript|ENST00000484256|retained_intron|2/2|n.1052A>G|||||| 22 29191998 . G A . . ANN=A|upstream_gene_variant|MODIFIER|CTA-292E10.6|ENSG00000226471|transcript|ENST00000585003|antisense||n.-1G>A|||||4699|,A|upstream_gene_variant|MODIFIER|CTA-292E10.6|ENSG00000226471|transcript|ENST00000458080|antisense||n.-1G>A|||||4673|,A|upstream_gene_variant|MODIFIER|CTA-292E10.6|ENSG00000226471|transcript|ENST00000418292|antisense||n.-1G>A|||||4694|,A|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|transcript|ENST00000482720|retained_intron||n.*520C>T|||||2896|,A|intron_variant|MODIFIER|XBP1|ENSG00000100219|transcript|ENST00000344347|protein_coding|5/5|c.573+37C>T||||||,A|intron_variant|MODIFIER|XBP1|ENSG00000100219|transcript|ENST00000216037|protein_coding|4/4|c.599+37C>T||||||,A|intron_variant|MODIFIER|XBP1|ENSG00000100219|transcript|ENST00000403532|protein_coding|4/4|c.614+37C>T||||||,A|intron_variant|MODIFIER|XBP1|ENSG00000100219|transcript|ENST00000484256|retained_intron|1/1|n.999+37C>T||||||,A|intron_variant|MODIFIER|XBP1|ENSG00000100219|transcript|ENST00000405219|protein_coding|4/4|c.449+37C>T|||||| 22 29192019 . T A . . ANN=A|upstream_gene_variant|MODIFIER|CTA-292E10.6|ENSG00000226471|transcript|ENST00000585003|antisense||n.-1T>A|||||4678|,A|upstream_gene_variant|MODIFIER|CTA-292E10.6|ENSG00000226471|transcript|ENST00000458080|antisense||n.-1T>A|||||4652|,A|upstream_gene_variant|MODIFIER|CTA-292E10.6|ENSG00000226471|transcript|ENST00000418292|antisense||n.-1T>A|||||4673|,A|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|transcript|ENST00000482720|retained_intron||n.*520A>T|||||2875|,A|intron_variant|MODIFIER|XBP1|ENSG00000100219|transcript|ENST00000344347|protein_coding|5/5|c.573+16A>T||||||,A|intron_variant|MODIFIER|XBP1|ENSG00000100219|transcript|ENST00000216037|protein_coding|4/4|c.599+16A>T||||||,A|intron_variant|MODIFIER|XBP1|ENSG00000100219|transcript|ENST00000403532|protein_coding|4/4|c.614+16A>T||||||,A|intron_variant|MODIFIER|XBP1|ENSG00000100219|transcript|ENST00000484256|retained_intron|1/1|n.999+16A>T||||||,A|intron_variant|MODIFIER|XBP1|ENSG00000100219|transcript|ENST00000405219|protein_coding|4/4|c.449+16A>T|||||| 22 29192184 . G T . . ANN=T|splice_region_variant&intron_variant|LOW|XBP1|ENSG00000100219|transcript|ENST00000344347|protein_coding|3/5|c.454-4C>A||||||,T|splice_region_variant&intron_variant|LOW|XBP1|ENSG00000100219|transcript|ENST00000216037|protein_coding|3/4|c.454-4C>A||||||,T|splice_region_variant&intron_variant|LOW|XBP1|ENSG00000100219|transcript|ENST00000403532|protein_coding|3/4|c.469-4C>A||||||,T|splice_region_variant&intron_variant|LOW|XBP1|ENSG00000100219|transcript|ENST00000405219|protein_coding|3/4|c.304-4C>A||||||,T|upstream_gene_variant|MODIFIER|CTA-292E10.6|ENSG00000226471|transcript|ENST00000585003|antisense||n.-1G>T|||||4513|,T|upstream_gene_variant|MODIFIER|CTA-292E10.6|ENSG00000226471|transcript|ENST00000458080|antisense||n.-1G>T|||||4487|,T|upstream_gene_variant|MODIFIER|CTA-292E10.6|ENSG00000226471|transcript|ENST00000418292|antisense||n.-1G>T|||||4508|,T|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|transcript|ENST00000482720|retained_intron||n.*520C>A|||||2710|,T|non_coding_exon_variant|MODIFIER|XBP1|ENSG00000100219|transcript|ENST00000484256|retained_intron|1/2|n.850C>A|||||| 22 29195174 . A G . . ANN=G|sequence_feature|LOW|XBP1|ENSG00000100219|domain:bZIP|ENST00000344347|protein_coding|3/6|c.228-33T>C||||||,G|sequence_feature|LOW|XBP1|ENSG00000100219|domain:bZIP|ENST00000344347|protein_coding|1/6|c.228-33T>C||||||,G|sequence_feature|LOW|XBP1|ENSG00000100219|domain:bZIP|ENST00000344347|protein_coding|2/6|c.228-33T>C||||||,G|sequence_feature|LOW|XBP1|ENSG00000100219|region_of_interest:Basic_motif|ENST00000344347|protein_coding|1/6|c.228-33T>C||||||,G|sequence_feature|LOW|XBP1|ENSG00000100219|region_of_interest:Basic_motif|ENST00000344347|protein_coding|2/6|c.228-33T>C||||||,G|sequence_feature|LOW|XBP1|ENSG00000100219|domain:bZIP|ENST00000216037|protein_coding|3/5|c.228-33T>C||||||,G|sequence_feature|LOW|XBP1|ENSG00000100219|domain:bZIP|ENST00000216037|protein_coding|1/5|c.228-33T>C||||||,G|sequence_feature|LOW|XBP1|ENSG00000100219|domain:bZIP|ENST00000216037|protein_coding|2/5|c.228-33T>C||||||,G|sequence_feature|LOW|XBP1|ENSG00000100219|region_of_interest:Basic_motif|ENST00000216037|protein_coding|1/5|c.228-33T>C||||||,G|sequence_feature|LOW|XBP1|ENSG00000100219|region_of_interest:Basic_motif|ENST00000216037|protein_coding|2/5|c.228-33T>C||||||,G|upstream_gene_variant|MODIFIER|CTA-292E10.6|ENSG00000226471|transcript|ENST00000585003|antisense||n.-1A>G|||||1523|,G|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|transcript|ENST00000484256|retained_intron||n.-1T>C|||||2141|,G|upstream_gene_variant|MODIFIER|CTA-292E10.6|ENSG00000226471|transcript|ENST00000458080|antisense||n.-1A>G|||||1497|,G|upstream_gene_variant|MODIFIER|CTA-292E10.6|ENSG00000226471|transcript|ENST00000418292|antisense||n.-1A>G|||||1518|,G|upstream_gene_variant|MODIFIER|CTA-292E10.6|ENSG00000226471|transcript|ENST00000451486|antisense||n.-1A>G|||||2706|,G|intron_variant|MODIFIER|XBP1|ENSG00000100219|transcript|ENST00000344347|protein_coding|1/5|c.228-33T>C||||||,G|intron_variant|MODIFIER|XBP1|ENSG00000100219|transcript|ENST00000216037|protein_coding|1/4|c.228-33T>C||||||,G|intron_variant|MODIFIER|XBP1|ENSG00000100219|transcript|ENST00000403532|protein_coding|1/4|c.228-33T>C||||||,G|intron_variant|MODIFIER|XBP1|ENSG00000100219|transcript|ENST00000405219|protein_coding|1/4|c.78-33T>C||||||,G|intron_variant|MODIFIER|XBP1|ENSG00000100219|transcript|ENST00000482720|retained_intron|1/1|n.273-33T>C|||||| 22 29196274 . C A . . ANN=A|sequence_feature|LOW|XBP1|ENSG00000100219|domain:bZIP|ENST00000344347|protein_coding|3/6|c.227+12G>T||||||,A|sequence_feature|LOW|XBP1|ENSG00000100219|domain:bZIP|ENST00000344347|protein_coding|1/6|c.227+12G>T||||||,A|sequence_feature|LOW|XBP1|ENSG00000100219|domain:bZIP|ENST00000344347|protein_coding|2/6|c.227+12G>T||||||,A|sequence_feature|LOW|XBP1|ENSG00000100219|region_of_interest:Basic_motif|ENST00000344347|protein_coding|1/6|c.227+12G>T||||||,A|sequence_feature|LOW|XBP1|ENSG00000100219|region_of_interest:Basic_motif|ENST00000344347|protein_coding|2/6|c.227+12G>T||||||,A|sequence_feature|LOW|XBP1|ENSG00000100219|domain:bZIP|ENST00000216037|protein_coding|3/5|c.227+12G>T||||||,A|sequence_feature|LOW|XBP1|ENSG00000100219|domain:bZIP|ENST00000216037|protein_coding|1/5|c.227+12G>T||||||,A|sequence_feature|LOW|XBP1|ENSG00000100219|domain:bZIP|ENST00000216037|protein_coding|2/5|c.227+12G>T||||||,A|sequence_feature|LOW|XBP1|ENSG00000100219|region_of_interest:Basic_motif|ENST00000216037|protein_coding|1/5|c.227+12G>T||||||,A|sequence_feature|LOW|XBP1|ENSG00000100219|region_of_interest:Basic_motif|ENST00000216037|protein_coding|2/5|c.227+12G>T||||||,A|upstream_gene_variant|MODIFIER|CTA-292E10.6|ENSG00000226471|transcript|ENST00000585003|antisense||n.-1C>A|||||423|,A|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|transcript|ENST00000484256|retained_intron||n.-1G>T|||||3241|,A|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|transcript|ENST00000405219|protein_coding||c.-98G>T|||||153|,A|upstream_gene_variant|MODIFIER|CTA-292E10.6|ENSG00000226471|transcript|ENST00000458080|antisense||n.-1C>A|||||397|,A|upstream_gene_variant|MODIFIER|CTA-292E10.6|ENSG00000226471|transcript|ENST00000418292|antisense||n.-1C>A|||||418|,A|upstream_gene_variant|MODIFIER|CTA-292E10.6|ENSG00000226471|transcript|ENST00000451486|antisense||n.-1C>A|||||1606|,A|intron_variant|MODIFIER|XBP1|ENSG00000100219|transcript|ENST00000344347|protein_coding|1/5|c.227+12G>T||||||,A|intron_variant|MODIFIER|XBP1|ENSG00000100219|transcript|ENST00000216037|protein_coding|1/4|c.227+12G>T||||||,A|intron_variant|MODIFIER|XBP1|ENSG00000100219|transcript|ENST00000403532|protein_coding|1/4|c.227+12G>T||||||,A|intron_variant|MODIFIER|XBP1|ENSG00000100219|transcript|ENST00000482720|retained_intron|1/1|n.272+12G>T|||||| 22 29196306 . G A . . ANN=A|synonymous_variant|LOW|XBP1|ENSG00000100219|transcript|ENST00000344347|protein_coding|1/6|c.207C>T|p.Pro69Pro|207/1131|207/1131|69/376||,A|synonymous_variant|LOW|XBP1|ENSG00000100219|transcript|ENST00000216037|protein_coding|1/5|c.207C>T|p.Pro69Pro|280/1850|207/786|69/261||,A|synonymous_variant|LOW|XBP1|ENSG00000100219|transcript|ENST00000403532|protein_coding|1/5|c.207C>T|p.Pro69Pro|241/1824|207/801|69/266||,A|upstream_gene_variant|MODIFIER|CTA-292E10.6|ENSG00000226471|transcript|ENST00000585003|antisense||n.-1G>A|||||391|,A|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|transcript|ENST00000484256|retained_intron||n.-1C>T|||||3273|,A|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|transcript|ENST00000405219|protein_coding||c.-98C>T|||||185|,A|upstream_gene_variant|MODIFIER|CTA-292E10.6|ENSG00000226471|transcript|ENST00000458080|antisense||n.-1G>A|||||365|,A|upstream_gene_variant|MODIFIER|CTA-292E10.6|ENSG00000226471|transcript|ENST00000418292|antisense||n.-1G>A|||||386|,A|upstream_gene_variant|MODIFIER|CTA-292E10.6|ENSG00000226471|transcript|ENST00000451486|antisense||n.-1G>A|||||1574|,A|non_coding_exon_variant|MODIFIER|XBP1|ENSG00000100219|transcript|ENST00000482720|retained_intron|1/2|n.252C>T|||||| 22 29196494 . C T . . ANN=T|missense_variant|MODERATE|XBP1|ENSG00000100219|transcript|ENST00000344347|protein_coding|1/6|c.19G>A|p.Ala7Thr|19/1131|19/1131|7/376||,T|missense_variant|MODERATE|XBP1|ENSG00000100219|transcript|ENST00000216037|protein_coding|1/5|c.19G>A|p.Ala7Thr|92/1850|19/786|7/261||,T|missense_variant|MODERATE|XBP1|ENSG00000100219|transcript|ENST00000403532|protein_coding|1/5|c.19G>A|p.Ala7Thr|53/1824|19/801|7/266||,T|upstream_gene_variant|MODIFIER|CTA-292E10.6|ENSG00000226471|transcript|ENST00000585003|antisense||n.-1C>T|||||203|,T|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|transcript|ENST00000484256|retained_intron||n.-1G>A|||||3461|,T|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|transcript|ENST00000405219|protein_coding||c.-98G>A|||||373|,T|upstream_gene_variant|MODIFIER|CTA-292E10.6|ENSG00000226471|transcript|ENST00000458080|antisense||n.-1C>T|||||177|,T|upstream_gene_variant|MODIFIER|CTA-292E10.6|ENSG00000226471|transcript|ENST00000418292|antisense||n.-1C>T|||||198|,T|upstream_gene_variant|MODIFIER|CTA-292E10.6|ENSG00000226471|transcript|ENST00000451486|antisense||n.-1C>T|||||1386|,T|non_coding_exon_variant|MODIFIER|XBP1|ENSG00000100219|transcript|ENST00000482720|retained_intron|1/2|n.64G>A|||||| 22 29196526 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|XBP1|ENSG00000100219|transcript|ENST00000216037|protein_coding|1/5|c.-14C>T|||||14|,A|5_prime_UTR_variant|MODIFIER|XBP1|ENSG00000100219|transcript|ENST00000403532|protein_coding|1/5|c.-14C>T|||||14|,A|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|transcript|ENST00000344347|protein_coding||c.-1C>T|||||14|,A|upstream_gene_variant|MODIFIER|CTA-292E10.6|ENSG00000226471|transcript|ENST00000585003|antisense||n.-1G>A|||||171|,A|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|transcript|ENST00000484256|retained_intron||n.-1C>T|||||3493|,A|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|transcript|ENST00000405219|protein_coding||c.-98C>T|||||405|,A|upstream_gene_variant|MODIFIER|CTA-292E10.6|ENSG00000226471|transcript|ENST00000458080|antisense||n.-1G>A|||||145|,A|upstream_gene_variant|MODIFIER|CTA-292E10.6|ENSG00000226471|transcript|ENST00000418292|antisense||n.-1G>A|||||166|,A|upstream_gene_variant|MODIFIER|CTA-292E10.6|ENSG00000226471|transcript|ENST00000451486|antisense||n.-1G>A|||||1354|,A|non_coding_exon_variant|MODIFIER|XBP1|ENSG00000100219|transcript|ENST00000482720|retained_intron|1/2|n.32C>T|||||| 22 29196534 . C A . . ANN=A|5_prime_UTR_variant|MODIFIER|XBP1|ENSG00000100219|transcript|ENST00000216037|protein_coding|1/5|c.-22G>T|||||22|,A|5_prime_UTR_variant|MODIFIER|XBP1|ENSG00000100219|transcript|ENST00000403532|protein_coding|1/5|c.-22G>T|||||22|,A|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|transcript|ENST00000344347|protein_coding||c.-1G>T|||||22|,A|upstream_gene_variant|MODIFIER|CTA-292E10.6|ENSG00000226471|transcript|ENST00000585003|antisense||n.-1C>A|||||163|,A|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|transcript|ENST00000484256|retained_intron||n.-1G>T|||||3501|,A|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|transcript|ENST00000405219|protein_coding||c.-98G>T|||||413|,A|upstream_gene_variant|MODIFIER|CTA-292E10.6|ENSG00000226471|transcript|ENST00000458080|antisense||n.-1C>A|||||137|,A|upstream_gene_variant|MODIFIER|CTA-292E10.6|ENSG00000226471|transcript|ENST00000418292|antisense||n.-1C>A|||||158|,A|upstream_gene_variant|MODIFIER|CTA-292E10.6|ENSG00000226471|transcript|ENST00000451486|antisense||n.-1C>A|||||1346|,A|non_coding_exon_variant|MODIFIER|XBP1|ENSG00000100219|transcript|ENST00000482720|retained_intron|1/2|n.24G>T|||||| 22 29383081 . A G . . ANN=G|synonymous_variant|LOW|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding|2/9|c.318A>G|p.Leu106Leu|493/6851|318/2811|106/936||,G|synonymous_variant|LOW|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding|2/9|c.18A>G|p.Leu6Leu|183/6541|18/2511|6/836||,G|synonymous_variant|LOW|ZNRF3|ENSG00000183579|transcript|ENST00000402174|protein_coding|2/9|c.18A>G|p.Leu6Leu|111/2667|18/2511|6/836||,G|synonymous_variant|LOW|ZNRF3|ENSG00000183579|transcript|ENST00000406323|protein_coding|1/8|c.18A>G|p.Leu6Leu|42/2878|18/2511|6/836||,G|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Extracellular|ENST00000544604|protein_coding|5/9|c.318A>G||||||,G|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Extracellular|ENST00000544604|protein_coding|2/9|c.318A>G||||||,G|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Extracellular|ENST00000544604|protein_coding|3/9|c.318A>G||||||,G|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Extracellular|ENST00000544604|protein_coding|1/9|c.318A>G||||||,G|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Extracellular|ENST00000544604|protein_coding|4/9|c.318A>G|||||| 22 29383193 . A C . . ANN=C|splice_region_variant&intron_variant|LOW|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding|2/8|c.426+4A>C||||||,C|splice_region_variant&intron_variant|LOW|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding|2/8|c.126+4A>C||||||,C|splice_region_variant&intron_variant|LOW|ZNRF3|ENSG00000183579|transcript|ENST00000402174|protein_coding|2/8|c.126+4A>C||||||,C|splice_region_variant&intron_variant|LOW|ZNRF3|ENSG00000183579|transcript|ENST00000406323|protein_coding|1/7|c.126+4A>C||||||,C|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Extracellular|ENST00000544604|protein_coding|5/9|c.426+4A>C||||||,C|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Extracellular|ENST00000544604|protein_coding|2/9|c.426+4A>C||||||,C|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Extracellular|ENST00000544604|protein_coding|3/9|c.426+4A>C||||||,C|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Extracellular|ENST00000544604|protein_coding|1/9|c.426+4A>C||||||,C|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Extracellular|ENST00000544604|protein_coding|4/9|c.426+4A>C|||||| 22 29383196 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding|2/8|c.426+7A>G||||||,G|splice_region_variant&intron_variant|LOW|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding|2/8|c.126+7A>G||||||,G|splice_region_variant&intron_variant|LOW|ZNRF3|ENSG00000183579|transcript|ENST00000402174|protein_coding|2/8|c.126+7A>G||||||,G|splice_region_variant&intron_variant|LOW|ZNRF3|ENSG00000183579|transcript|ENST00000406323|protein_coding|1/7|c.126+7A>G||||||,G|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Extracellular|ENST00000544604|protein_coding|5/9|c.426+7A>G||||||,G|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Extracellular|ENST00000544604|protein_coding|2/9|c.426+7A>G||||||,G|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Extracellular|ENST00000544604|protein_coding|3/9|c.426+7A>G||||||,G|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Extracellular|ENST00000544604|protein_coding|1/9|c.426+7A>G||||||,G|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Extracellular|ENST00000544604|protein_coding|4/9|c.426+7A>G|||||| 22 29438603 . G T . . ANN=T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Extracellular|ENST00000544604|protein_coding|5/9|c.501+46G>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Extracellular|ENST00000544604|protein_coding|2/9|c.501+46G>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Extracellular|ENST00000544604|protein_coding|3/9|c.501+46G>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Extracellular|ENST00000544604|protein_coding|1/9|c.501+46G>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Extracellular|ENST00000544604|protein_coding|4/9|c.501+46G>T||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding|3/8|c.501+46G>T||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding|3/8|c.201+46G>T||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000402174|protein_coding|3/8|c.201+46G>T||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000406323|protein_coding|2/7|c.201+46G>T|||||| 22 29439452 . G A . . ANN=A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Extracellular|ENST00000544604|protein_coding|5/9|c.633+34G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Extracellular|ENST00000544604|protein_coding|2/9|c.633+34G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Extracellular|ENST00000544604|protein_coding|3/9|c.633+34G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Extracellular|ENST00000544604|protein_coding|1/9|c.633+34G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Extracellular|ENST00000544604|protein_coding|4/9|c.633+34G>A||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding|4/8|c.633+34G>A||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding|4/8|c.333+34G>A||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000402174|protein_coding|4/8|c.333+34G>A||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000406323|protein_coding|3/7|c.333+34G>A|||||| 22 29440848 . C T . . ANN=T|synonymous_variant|LOW|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding|5/9|c.714C>T|p.Val238Val|889/6851|714/2811|238/936||,T|synonymous_variant|LOW|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding|5/9|c.414C>T|p.Val138Val|579/6541|414/2511|138/836||,T|synonymous_variant|LOW|ZNRF3|ENSG00000183579|transcript|ENST00000402174|protein_coding|5/9|c.414C>T|p.Val138Val|507/2667|414/2511|138/836||,T|synonymous_variant|LOW|ZNRF3|ENSG00000183579|transcript|ENST00000406323|protein_coding|4/8|c.414C>T|p.Val138Val|438/2878|414/2511|138/836||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|transmembrane_region:Transmembrane_region|ENST00000544604|protein_coding|5/9|c.714C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|transmembrane_region:Transmembrane_region|ENST00000402174|protein_coding|5/9|c.414C>T|||||| 22 29440901 . G A . . ANN=A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|5/9|c.744+23G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|6/9|c.744+23G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|8/9|c.744+23G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|9/9|c.744+23G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|7/9|c.744+23G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|5/9|c.444+23G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|6/9|c.444+23G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|9/9|c.444+23G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|8/9|c.444+23G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|7/9|c.444+23G>A||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding|5/8|c.744+23G>A||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding|5/8|c.444+23G>A||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000402174|protein_coding|5/8|c.444+23G>A||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000406323|protein_coding|4/7|c.444+23G>A|||||| 22 29442666 . G A . . ANN=A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|5/9|c.745-38G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|6/9|c.745-38G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|8/9|c.745-38G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|9/9|c.745-38G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|7/9|c.745-38G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|5/9|c.445-38G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|6/9|c.445-38G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|9/9|c.445-38G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|8/9|c.445-38G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|7/9|c.445-38G>A||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding|5/8|c.745-38G>A||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding|5/8|c.445-38G>A||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000402174|protein_coding|5/8|c.445-38G>A||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000406323|protein_coding|4/7|c.445-38G>A|||||| 22 29444336 . G A . . ANN=A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|5/9|c.913-41G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|6/9|c.913-41G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|8/9|c.913-41G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|9/9|c.913-41G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|7/9|c.913-41G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|zinc_finger_region:RING-type|ENST00000544604|protein_coding|6/9|c.913-41G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|zinc_finger_region:RING-type|ENST00000544604|protein_coding|7/9|c.913-41G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|5/9|c.613-41G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|6/9|c.613-41G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|9/9|c.613-41G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|8/9|c.613-41G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|7/9|c.613-41G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|zinc_finger_region:RING-type|ENST00000402174|protein_coding|6/9|c.613-41G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|zinc_finger_region:RING-type|ENST00000402174|protein_coding|7/9|c.613-41G>A||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding|6/8|c.913-41G>A||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding|6/8|c.613-41G>A||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000402174|protein_coding|6/8|c.613-41G>A||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000406323|protein_coding|5/7|c.613-41G>A|||||| 22 29444368 . C T . . ANN=T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|5/9|c.913-9C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|6/9|c.913-9C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|8/9|c.913-9C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|9/9|c.913-9C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|7/9|c.913-9C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|zinc_finger_region:RING-type|ENST00000544604|protein_coding|6/9|c.913-9C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|zinc_finger_region:RING-type|ENST00000544604|protein_coding|7/9|c.913-9C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|5/9|c.613-9C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|6/9|c.613-9C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|9/9|c.613-9C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|8/9|c.613-9C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|7/9|c.613-9C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|zinc_finger_region:RING-type|ENST00000402174|protein_coding|6/9|c.613-9C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|zinc_finger_region:RING-type|ENST00000402174|protein_coding|7/9|c.613-9C>T||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding|6/8|c.913-9C>T||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding|6/8|c.613-9C>T||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000402174|protein_coding|6/8|c.613-9C>T||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000406323|protein_coding|5/7|c.613-9C>T|||||| 22 29444445 . C A . . ANN=A|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding|7/9|c.981C>A|p.His327Gln|1156/6851|981/2811|327/936||,A|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding|7/9|c.681C>A|p.His227Gln|846/6541|681/2511|227/836||,A|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000402174|protein_coding|7/9|c.681C>A|p.His227Gln|774/2667|681/2511|227/836||,A|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000406323|protein_coding|6/8|c.681C>A|p.His227Gln|705/2878|681/2511|227/836||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|5/9|c.981C>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|6/9|c.981C>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|8/9|c.981C>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|9/9|c.981C>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|7/9|c.981C>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|zinc_finger_region:RING-type|ENST00000544604|protein_coding|6/9|c.981C>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|zinc_finger_region:RING-type|ENST00000544604|protein_coding|7/9|c.981C>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|5/9|c.681C>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|6/9|c.681C>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|9/9|c.681C>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|8/9|c.681C>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|7/9|c.681C>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|zinc_finger_region:RING-type|ENST00000402174|protein_coding|6/9|c.681C>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|zinc_finger_region:RING-type|ENST00000402174|protein_coding|7/9|c.681C>A|||||| 22 29445171 . C T . . ANN=T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|5/9|c.1016-14C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|6/9|c.1016-14C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|8/9|c.1016-14C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|9/9|c.1016-14C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|7/9|c.1016-14C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|5/9|c.716-14C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|6/9|c.716-14C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|9/9|c.716-14C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|8/9|c.716-14C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|7/9|c.716-14C>T||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding|7/8|c.1016-14C>T||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding|7/8|c.716-14C>T||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000402174|protein_coding|7/8|c.716-14C>T||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000406323|protein_coding|6/7|c.716-14C>T|||||| 22 29445258 . C T . . ANN=T|synonymous_variant|LOW|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding|8/9|c.1089C>T|p.Thr363Thr|1264/6851|1089/2811|363/936||,T|synonymous_variant|LOW|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding|8/9|c.789C>T|p.Thr263Thr|954/6541|789/2511|263/836||,T|synonymous_variant|LOW|ZNRF3|ENSG00000183579|transcript|ENST00000402174|protein_coding|8/9|c.789C>T|p.Thr263Thr|882/2667|789/2511|263/836||,T|synonymous_variant|LOW|ZNRF3|ENSG00000183579|transcript|ENST00000406323|protein_coding|7/8|c.789C>T|p.Thr263Thr|813/2878|789/2511|263/836||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|5/9|c.1089C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|6/9|c.1089C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|8/9|c.1089C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|9/9|c.1089C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|7/9|c.1089C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|5/9|c.789C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|6/9|c.789C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|9/9|c.789C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|8/9|c.789C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|7/9|c.789C>T|||||| 22 29445468 . C T . . ANN=T|synonymous_variant|LOW|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding|8/9|c.1299C>T|p.Cys433Cys|1474/6851|1299/2811|433/936||,T|synonymous_variant|LOW|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding|8/9|c.999C>T|p.Cys333Cys|1164/6541|999/2511|333/836||,T|synonymous_variant|LOW|ZNRF3|ENSG00000183579|transcript|ENST00000402174|protein_coding|8/9|c.999C>T|p.Cys333Cys|1092/2667|999/2511|333/836||,T|synonymous_variant|LOW|ZNRF3|ENSG00000183579|transcript|ENST00000406323|protein_coding|7/8|c.999C>T|p.Cys333Cys|1023/2878|999/2511|333/836||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|5/9|c.1299C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|6/9|c.1299C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|8/9|c.1299C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|9/9|c.1299C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|7/9|c.1299C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|5/9|c.999C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|6/9|c.999C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|9/9|c.999C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|8/9|c.999C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|7/9|c.999C>T|||||| 22 29445676 . G A . . ANN=A|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding|8/9|c.1507G>A|p.Gly503Ser|1682/6851|1507/2811|503/936||,A|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding|8/9|c.1207G>A|p.Gly403Ser|1372/6541|1207/2511|403/836||,A|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000402174|protein_coding|8/9|c.1207G>A|p.Gly403Ser|1300/2667|1207/2511|403/836||,A|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000406323|protein_coding|7/8|c.1207G>A|p.Gly403Ser|1231/2878|1207/2511|403/836||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|5/9|c.1507G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|6/9|c.1507G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|8/9|c.1507G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|9/9|c.1507G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|7/9|c.1507G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|5/9|c.1207G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|6/9|c.1207G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|9/9|c.1207G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|8/9|c.1207G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|7/9|c.1207G>A|||||| 22 29445841 . G A . . ANN=A|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding|8/9|c.1672G>A|p.Gly558Ser|1847/6851|1672/2811|558/936||,A|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding|8/9|c.1372G>A|p.Gly458Ser|1537/6541|1372/2511|458/836||,A|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000402174|protein_coding|8/9|c.1372G>A|p.Gly458Ser|1465/2667|1372/2511|458/836||,A|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000406323|protein_coding|7/8|c.1372G>A|p.Gly458Ser|1396/2878|1372/2511|458/836||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|5/9|c.1672G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|6/9|c.1672G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|8/9|c.1672G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|9/9|c.1672G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|7/9|c.1672G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|5/9|c.1372G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|6/9|c.1372G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|9/9|c.1372G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|8/9|c.1372G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|7/9|c.1372G>A|||||| 22 29445906 . G A . . ANN=A|synonymous_variant|LOW|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding|8/9|c.1737G>A|p.Val579Val|1912/6851|1737/2811|579/936||,A|synonymous_variant|LOW|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding|8/9|c.1437G>A|p.Val479Val|1602/6541|1437/2511|479/836||,A|synonymous_variant|LOW|ZNRF3|ENSG00000183579|transcript|ENST00000402174|protein_coding|8/9|c.1437G>A|p.Val479Val|1530/2667|1437/2511|479/836||,A|synonymous_variant|LOW|ZNRF3|ENSG00000183579|transcript|ENST00000406323|protein_coding|7/8|c.1437G>A|p.Val479Val|1461/2878|1437/2511|479/836||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|5/9|c.1737G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|6/9|c.1737G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|8/9|c.1737G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|9/9|c.1737G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|7/9|c.1737G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|5/9|c.1437G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|6/9|c.1437G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|9/9|c.1437G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|8/9|c.1437G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|7/9|c.1437G>A|||||| 22 29446059 . C T . . ANN=T|synonymous_variant|LOW|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding|8/9|c.1890C>T|p.Pro630Pro|2065/6851|1890/2811|630/936||,T|synonymous_variant|LOW|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding|8/9|c.1590C>T|p.Pro530Pro|1755/6541|1590/2511|530/836||,T|synonymous_variant|LOW|ZNRF3|ENSG00000183579|transcript|ENST00000402174|protein_coding|8/9|c.1590C>T|p.Pro530Pro|1683/2667|1590/2511|530/836||,T|synonymous_variant|LOW|ZNRF3|ENSG00000183579|transcript|ENST00000406323|protein_coding|7/8|c.1590C>T|p.Pro530Pro|1614/2878|1590/2511|530/836||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|5/9|c.1890C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|6/9|c.1890C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|8/9|c.1890C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|9/9|c.1890C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|7/9|c.1890C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|5/9|c.1590C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|6/9|c.1590C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|9/9|c.1590C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|8/9|c.1590C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|7/9|c.1590C>T|||||| 22 29446077 . G C . . ANN=C|synonymous_variant|LOW|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding|8/9|c.1908G>C|p.Val636Val|2083/6851|1908/2811|636/936||,C|synonymous_variant|LOW|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding|8/9|c.1608G>C|p.Val536Val|1773/6541|1608/2511|536/836||,C|synonymous_variant|LOW|ZNRF3|ENSG00000183579|transcript|ENST00000402174|protein_coding|8/9|c.1608G>C|p.Val536Val|1701/2667|1608/2511|536/836||,C|synonymous_variant|LOW|ZNRF3|ENSG00000183579|transcript|ENST00000406323|protein_coding|7/8|c.1608G>C|p.Val536Val|1632/2878|1608/2511|536/836||,C|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|5/9|c.1908G>C||||||,C|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|6/9|c.1908G>C||||||,C|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|8/9|c.1908G>C||||||,C|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|9/9|c.1908G>C||||||,C|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|7/9|c.1908G>C||||||,C|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|5/9|c.1608G>C||||||,C|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|6/9|c.1608G>C||||||,C|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|9/9|c.1608G>C||||||,C|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|8/9|c.1608G>C||||||,C|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|7/9|c.1608G>C|||||| 22 29446367 . T C . . ANN=C|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding|8/9|c.2198T>C|p.Leu733Ser|2373/6851|2198/2811|733/936||,C|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding|8/9|c.1898T>C|p.Leu633Ser|2063/6541|1898/2511|633/836||,C|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000402174|protein_coding|8/9|c.1898T>C|p.Leu633Ser|1991/2667|1898/2511|633/836||,C|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000406323|protein_coding|7/8|c.1898T>C|p.Leu633Ser|1922/2878|1898/2511|633/836||,C|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|5/9|c.2198T>C||||||,C|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|6/9|c.2198T>C||||||,C|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|8/9|c.2198T>C||||||,C|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|9/9|c.2198T>C||||||,C|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|7/9|c.2198T>C||||||,C|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|5/9|c.1898T>C||||||,C|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|6/9|c.1898T>C||||||,C|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|9/9|c.1898T>C||||||,C|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|8/9|c.1898T>C||||||,C|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|7/9|c.1898T>C|||||| 22 29446401 . C T . . ANN=T|synonymous_variant|LOW|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding|8/9|c.2232C>T|p.Gly744Gly|2407/6851|2232/2811|744/936||,T|synonymous_variant|LOW|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding|8/9|c.1932C>T|p.Gly644Gly|2097/6541|1932/2511|644/836||,T|synonymous_variant|LOW|ZNRF3|ENSG00000183579|transcript|ENST00000402174|protein_coding|8/9|c.1932C>T|p.Gly644Gly|2025/2667|1932/2511|644/836||,T|synonymous_variant|LOW|ZNRF3|ENSG00000183579|transcript|ENST00000406323|protein_coding|7/8|c.1932C>T|p.Gly644Gly|1956/2878|1932/2511|644/836||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|5/9|c.2232C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|6/9|c.2232C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|8/9|c.2232C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|9/9|c.2232C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|7/9|c.2232C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|5/9|c.1932C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|6/9|c.1932C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|9/9|c.1932C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|8/9|c.1932C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|7/9|c.1932C>T|||||| 22 29446403 . C T . . ANN=T|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding|8/9|c.2234C>T|p.Pro745Leu|2409/6851|2234/2811|745/936||,T|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding|8/9|c.1934C>T|p.Pro645Leu|2099/6541|1934/2511|645/836||,T|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000402174|protein_coding|8/9|c.1934C>T|p.Pro645Leu|2027/2667|1934/2511|645/836||,T|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000406323|protein_coding|7/8|c.1934C>T|p.Pro645Leu|1958/2878|1934/2511|645/836||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|5/9|c.2234C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|6/9|c.2234C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|8/9|c.2234C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|9/9|c.2234C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|7/9|c.2234C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|5/9|c.1934C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|6/9|c.1934C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|9/9|c.1934C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|8/9|c.1934C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|7/9|c.1934C>T|||||| 22 29446543 . G A . . ANN=A|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding|8/9|c.2374G>A|p.Gly792Arg|2549/6851|2374/2811|792/936||,A|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding|8/9|c.2074G>A|p.Gly692Arg|2239/6541|2074/2511|692/836||,A|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000402174|protein_coding|8/9|c.2074G>A|p.Gly692Arg|2167/2667|2074/2511|692/836||,A|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000406323|protein_coding|7/8|c.2074G>A|p.Gly692Arg|2098/2878|2074/2511|692/836||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|5/9|c.2374G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|6/9|c.2374G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|8/9|c.2374G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|9/9|c.2374G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|7/9|c.2374G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|5/9|c.2074G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|6/9|c.2074G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|9/9|c.2074G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|8/9|c.2074G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|7/9|c.2074G>A|||||| 22 29446601 . C T . . ANN=T|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding|8/9|c.2432C>T|p.Thr811Ile|2607/6851|2432/2811|811/936||,T|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding|8/9|c.2132C>T|p.Thr711Ile|2297/6541|2132/2511|711/836||,T|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000402174|protein_coding|8/9|c.2132C>T|p.Thr711Ile|2225/2667|2132/2511|711/836||,T|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000406323|protein_coding|7/8|c.2132C>T|p.Thr711Ile|2156/2878|2132/2511|711/836||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|5/9|c.2432C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|6/9|c.2432C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|8/9|c.2432C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|9/9|c.2432C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|7/9|c.2432C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|5/9|c.2132C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|6/9|c.2132C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|9/9|c.2132C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|8/9|c.2132C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|7/9|c.2132C>T|||||| 22 29446611 . A C . . ANN=C|synonymous_variant|LOW|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding|8/9|c.2442A>C|p.Pro814Pro|2617/6851|2442/2811|814/936||,C|synonymous_variant|LOW|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding|8/9|c.2142A>C|p.Pro714Pro|2307/6541|2142/2511|714/836||,C|synonymous_variant|LOW|ZNRF3|ENSG00000183579|transcript|ENST00000402174|protein_coding|8/9|c.2142A>C|p.Pro714Pro|2235/2667|2142/2511|714/836||,C|synonymous_variant|LOW|ZNRF3|ENSG00000183579|transcript|ENST00000406323|protein_coding|7/8|c.2142A>C|p.Pro714Pro|2166/2878|2142/2511|714/836||,C|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|5/9|c.2442A>C||||||,C|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|6/9|c.2442A>C||||||,C|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|8/9|c.2442A>C||||||,C|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|9/9|c.2442A>C||||||,C|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|7/9|c.2442A>C||||||,C|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|5/9|c.2142A>C||||||,C|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|6/9|c.2142A>C||||||,C|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|9/9|c.2142A>C||||||,C|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|8/9|c.2142A>C||||||,C|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|7/9|c.2142A>C|||||| 22 29446693 . C T . . ANN=T|synonymous_variant|LOW|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding|8/9|c.2524C>T|p.Leu842Leu|2699/6851|2524/2811|842/936||,T|synonymous_variant|LOW|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding|8/9|c.2224C>T|p.Leu742Leu|2389/6541|2224/2511|742/836||,T|synonymous_variant|LOW|ZNRF3|ENSG00000183579|transcript|ENST00000402174|protein_coding|8/9|c.2224C>T|p.Leu742Leu|2317/2667|2224/2511|742/836||,T|synonymous_variant|LOW|ZNRF3|ENSG00000183579|transcript|ENST00000406323|protein_coding|7/8|c.2224C>T|p.Leu742Leu|2248/2878|2224/2511|742/836||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|5/9|c.2524C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|6/9|c.2524C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|8/9|c.2524C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|9/9|c.2524C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|7/9|c.2524C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|5/9|c.2224C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|6/9|c.2224C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|9/9|c.2224C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|8/9|c.2224C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|7/9|c.2224C>T|||||| 22 29446695 . G A . . ANN=A|synonymous_variant|LOW|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding|8/9|c.2526G>A|p.Leu842Leu|2701/6851|2526/2811|842/936||,A|synonymous_variant|LOW|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding|8/9|c.2226G>A|p.Leu742Leu|2391/6541|2226/2511|742/836||,A|synonymous_variant|LOW|ZNRF3|ENSG00000183579|transcript|ENST00000402174|protein_coding|8/9|c.2226G>A|p.Leu742Leu|2319/2667|2226/2511|742/836||,A|synonymous_variant|LOW|ZNRF3|ENSG00000183579|transcript|ENST00000406323|protein_coding|7/8|c.2226G>A|p.Leu742Leu|2250/2878|2226/2511|742/836||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|5/9|c.2526G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|6/9|c.2526G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|8/9|c.2526G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|9/9|c.2526G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|7/9|c.2526G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|5/9|c.2226G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|6/9|c.2226G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|9/9|c.2226G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|8/9|c.2226G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|7/9|c.2226G>A|||||| 22 29446787 . C G . . ANN=G|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding|8/9|c.2618C>G|p.Thr873Ser|2793/6851|2618/2811|873/936||,G|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding|8/9|c.2318C>G|p.Thr773Ser|2483/6541|2318/2511|773/836||,G|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000402174|protein_coding|8/9|c.2318C>G|p.Thr773Ser|2411/2667|2318/2511|773/836||,G|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000406323|protein_coding|7/8|c.2318C>G|p.Thr773Ser|2342/2878|2318/2511|773/836||,G|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|5/9|c.2618C>G||||||,G|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|6/9|c.2618C>G||||||,G|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|8/9|c.2618C>G||||||,G|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|9/9|c.2618C>G||||||,G|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|7/9|c.2618C>G||||||,G|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|5/9|c.2318C>G||||||,G|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|6/9|c.2318C>G||||||,G|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|9/9|c.2318C>G||||||,G|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|8/9|c.2318C>G||||||,G|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|7/9|c.2318C>G|||||| 22 29446801 . C G . . ANN=G|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding|8/9|c.2632C>G|p.Arg878Gly|2807/6851|2632/2811|878/936||,G|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding|8/9|c.2332C>G|p.Arg778Gly|2497/6541|2332/2511|778/836||,G|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000402174|protein_coding|8/9|c.2332C>G|p.Arg778Gly|2425/2667|2332/2511|778/836||,G|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000406323|protein_coding|7/8|c.2332C>G|p.Arg778Gly|2356/2878|2332/2511|778/836||,G|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|5/9|c.2632C>G||||||,G|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|6/9|c.2632C>G||||||,G|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|8/9|c.2632C>G||||||,G|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|9/9|c.2632C>G||||||,G|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|7/9|c.2632C>G||||||,G|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|5/9|c.2332C>G||||||,G|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|6/9|c.2332C>G||||||,G|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|9/9|c.2332C>G||||||,G|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|8/9|c.2332C>G||||||,G|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|7/9|c.2332C>G|||||| 22 29446886 . G A . . ANN=A|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding|8/9|c.2717G>A|p.Ser906Asn|2892/6851|2717/2811|906/936||,A|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding|8/9|c.2417G>A|p.Ser806Asn|2582/6541|2417/2511|806/836||,A|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000402174|protein_coding|8/9|c.2417G>A|p.Ser806Asn|2510/2667|2417/2511|806/836||,A|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000406323|protein_coding|7/8|c.2417G>A|p.Ser806Asn|2441/2878|2417/2511|806/836||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|5/9|c.2717G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|6/9|c.2717G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|8/9|c.2717G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|9/9|c.2717G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|7/9|c.2717G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|5/9|c.2417G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|6/9|c.2417G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|9/9|c.2417G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|8/9|c.2417G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|7/9|c.2417G>A|||||| 22 29446903 . C A . . ANN=A|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding|8/9|c.2734C>A|p.Gln912Lys|2909/6851|2734/2811|912/936||,A|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding|8/9|c.2434C>A|p.Gln812Lys|2599/6541|2434/2511|812/836||,A|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000402174|protein_coding|8/9|c.2434C>A|p.Gln812Lys|2527/2667|2434/2511|812/836||,A|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000406323|protein_coding|7/8|c.2434C>A|p.Gln812Lys|2458/2878|2434/2511|812/836||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|5/9|c.2734C>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|6/9|c.2734C>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|8/9|c.2734C>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|9/9|c.2734C>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|7/9|c.2734C>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|5/9|c.2434C>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|6/9|c.2434C>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|9/9|c.2434C>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|8/9|c.2434C>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|7/9|c.2434C>A|||||| 22 29446975 . T C . . ANN=C|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|5/9|c.2767+39T>C||||||,C|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|6/9|c.2767+39T>C||||||,C|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|8/9|c.2767+39T>C||||||,C|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|9/9|c.2767+39T>C||||||,C|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|7/9|c.2767+39T>C||||||,C|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|5/9|c.2467+39T>C||||||,C|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|6/9|c.2467+39T>C||||||,C|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|9/9|c.2467+39T>C||||||,C|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|8/9|c.2467+39T>C||||||,C|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|7/9|c.2467+39T>C||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding|8/8|c.2767+39T>C||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding|8/8|c.2467+39T>C||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000402174|protein_coding|8/8|c.2467+39T>C||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000406323|protein_coding|7/7|c.2467+39T>C|||||| 22 29454778 . G A . . ANN=A|synonymous_variant|LOW|C22orf31|ENSG00000100249|transcript|ENST00000216071|protein_coding|3/3|c.825C>T|p.His275His|877/995|825/873|275/290||,A|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding||c.*2986G>A|||||1303|,A|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding||c.*2676G>A|||||1303|,A|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000406323|protein_coding||c.*2535G>A|||||4825| 22 29454909 . G C . . ANN=C|missense_variant|MODERATE|C22orf31|ENSG00000100249|transcript|ENST00000216071|protein_coding|3/3|c.694C>G|p.Pro232Ala|746/995|694/873|232/290||,C|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding||c.*2986G>C|||||1434|,C|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding||c.*2676G>C|||||1434|,C|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000406323|protein_coding||c.*2535G>C|||||4956| 22 29454948 . C T . . ANN=T|missense_variant|MODERATE|C22orf31|ENSG00000100249|transcript|ENST00000216071|protein_coding|3/3|c.655G>A|p.Ala219Thr|707/995|655/873|219/290||,T|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding||c.*2986C>T|||||1473|,T|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding||c.*2676C>T|||||1473|,T|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000406323|protein_coding||c.*2535C>T|||||4995| 22 29454998 . G A . . ANN=A|missense_variant|MODERATE|C22orf31|ENSG00000100249|transcript|ENST00000216071|protein_coding|3/3|c.605C>T|p.Thr202Met|657/995|605/873|202/290||,A|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding||c.*2986G>A|||||1523|,A|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding||c.*2676G>A|||||1523| 22 29455017 . G A . . ANN=A|stop_gained|HIGH|C22orf31|ENSG00000100249|transcript|ENST00000216071|protein_coding|3/3|c.586C>T|p.Gln196*|638/995|586/873|196/290||,A|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding||c.*2986G>A|||||1542|,A|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding||c.*2676G>A|||||1542| 22 29455048 . G T . . ANN=T|synonymous_variant|LOW|C22orf31|ENSG00000100249|transcript|ENST00000216071|protein_coding|3/3|c.555C>A|p.Gly185Gly|607/995|555/873|185/290||,T|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding||c.*2986G>T|||||1573|,T|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding||c.*2676G>T|||||1573| 22 29455058 . G A . . ANN=A|missense_variant|MODERATE|C22orf31|ENSG00000100249|transcript|ENST00000216071|protein_coding|3/3|c.545C>T|p.Ala182Val|597/995|545/873|182/290||,A|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding||c.*2986G>A|||||1583|,A|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding||c.*2676G>A|||||1583| 22 29455084 . C T . . ANN=T|synonymous_variant|LOW|C22orf31|ENSG00000100249|transcript|ENST00000216071|protein_coding|3/3|c.519G>A|p.Ala173Ala|571/995|519/873|173/290||,T|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding||c.*2986C>T|||||1609|,T|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding||c.*2676C>T|||||1609| 22 29455139 . G A . . ANN=A|missense_variant|MODERATE|C22orf31|ENSG00000100249|transcript|ENST00000216071|protein_coding|3/3|c.464C>T|p.Thr155Ile|516/995|464/873|155/290||,A|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding||c.*2986G>A|||||1664|,A|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding||c.*2676G>A|||||1664| 22 29456360 . C T . . ANN=T|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding||c.*2986C>T|||||2885|,T|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding||c.*2676C>T|||||2885|,T|intron_variant|MODIFIER|C22orf31|ENSG00000100249|transcript|ENST00000216071|protein_coding|2/2|c.432+43G>A|||||| 22 29456407 . C G . . ANN=G|missense_variant|MODERATE|C22orf31|ENSG00000100249|transcript|ENST00000216071|protein_coding|2/3|c.428G>C|p.Arg143Thr|480/995|428/873|143/290||,G|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding||c.*2986C>G|||||2932|,G|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding||c.*2676C>G|||||2932| 22 29456467 . T C . . ANN=C|missense_variant|MODERATE|C22orf31|ENSG00000100249|transcript|ENST00000216071|protein_coding|2/3|c.368A>G|p.Asn123Ser|420/995|368/873|123/290||,C|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding||c.*2986T>C|||||2992|,C|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding||c.*2676T>C|||||2992| 22 29456529 . C T . . ANN=T|synonymous_variant|LOW|C22orf31|ENSG00000100249|transcript|ENST00000216071|protein_coding|2/3|c.306G>A|p.Ser102Ser|358/995|306/873|102/290||,T|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding||c.*2986C>T|||||3054|,T|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding||c.*2676C>T|||||3054| 22 29456545 . C G . . ANN=G|missense_variant|MODERATE|C22orf31|ENSG00000100249|transcript|ENST00000216071|protein_coding|2/3|c.290G>C|p.Gly97Ala|342/995|290/873|97/290||,G|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding||c.*2986C>G|||||3070|,G|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding||c.*2676C>G|||||3070| 22 29456671 . G A . . ANN=A|missense_variant|MODERATE|C22orf31|ENSG00000100249|transcript|ENST00000216071|protein_coding|2/3|c.164C>T|p.Ala55Val|216/995|164/873|55/290||,A|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding||c.*2986G>A|||||3196|,A|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding||c.*2676G>A|||||3196| 22 29456699 . A G . . ANN=G|missense_variant|MODERATE|C22orf31|ENSG00000100249|transcript|ENST00000216071|protein_coding|2/3|c.136T>C|p.Cys46Arg|188/995|136/873|46/290||,G|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding||c.*2986A>G|||||3224|,G|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding||c.*2676A>G|||||3224| 22 29456731 . G A . . ANN=A|missense_variant|MODERATE|C22orf31|ENSG00000100249|transcript|ENST00000216071|protein_coding|2/3|c.104C>T|p.Pro35Leu|156/995|104/873|35/290||,A|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding||c.*2986G>A|||||3256|,A|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding||c.*2676G>A|||||3256| 22 29456733 . T C . . ANN=C|synonymous_variant|LOW|C22orf31|ENSG00000100249|transcript|ENST00000216071|protein_coding|2/3|c.102A>G|p.Ser34Ser|154/995|102/873|34/290||,C|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding||c.*2986T>C|||||3258|,C|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding||c.*2676T>C|||||3258| 22 29456786 . G A . . ANN=A|missense_variant|MODERATE|C22orf31|ENSG00000100249|transcript|ENST00000216071|protein_coding|2/3|c.49C>T|p.Leu17Phe|101/995|49/873|17/290||,A|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding||c.*2986G>A|||||3311|,A|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding||c.*2676G>A|||||3311| 22 29456796 . A G . . ANN=G|synonymous_variant|LOW|C22orf31|ENSG00000100249|transcript|ENST00000216071|protein_coding|2/3|c.39T>C|p.Pro13Pro|91/995|39/873|13/290||,G|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding||c.*2986A>G|||||3321|,G|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding||c.*2676A>G|||||3321| 22 29456797 . G A . . ANN=A|missense_variant|MODERATE|C22orf31|ENSG00000100249|transcript|ENST00000216071|protein_coding|2/3|c.38C>T|p.Pro13Leu|90/995|38/873|13/290||,A|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding||c.*2986G>A|||||3322|,A|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding||c.*2676G>A|||||3322| 22 29456871 . C T . . ANN=T|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding||c.*2986C>T|||||3396|,T|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding||c.*2676C>T|||||3396|,T|intron_variant|MODIFIER|C22orf31|ENSG00000100249|transcript|ENST00000216071|protein_coding|1/2|c.4-40G>A|||||| 22 29457808 . G C . . ANN=C|5_prime_UTR_variant|MODIFIER|C22orf31|ENSG00000100249|transcript|ENST00000216071|protein_coding|1/3|c.-28C>G|||||28|,C|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding||c.*2986G>C|||||4333|,C|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding||c.*2676G>C|||||4333| 22 29469130 . A C . . ANN=C|synonymous_variant|LOW|KREMEN1|ENSG00000183762|transcript|ENST00000327813|protein_coding|1/10|c.12A>C|p.Pro4Pro|25/2719|12/1479|4/492||,C|synonymous_variant|LOW|KREMEN1|ENSG00000183762|transcript|ENST00000400338|protein_coding|1/9|c.12A>C|p.Pro4Pro|65/6182|12/1428|4/475||,C|synonymous_variant|LOW|KREMEN1|ENSG00000183762|transcript|ENST00000400335|protein_coding|1/9|c.12A>C|p.Pro4Pro|65/6138|12/1377|4/458||,C|synonymous_variant|LOW|KREMEN1|ENSG00000183762|transcript|ENST00000407188|protein_coding|1/9|c.12A>C|p.Pro4Pro|12/1422|12/1422|4/473||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|signal_peptide|ENST00000327813|protein_coding|1/10|c.12A>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|signal_peptide|ENST00000400335|protein_coding|1/9|c.12A>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|signal_peptide|ENST00000407188|protein_coding|1/9|c.12A>C|||||| 22 29469262 . C G . . ANN=G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|7/9|c.91+53C>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|1/9|c.91+53C>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|8/9|c.91+53C>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|6/9|c.91+53C>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|4/9|c.91+53C>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|2/9|c.91+53C>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|3/9|c.91+53C>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|5/9|c.91+53C>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:Kringle|ENST00000407188|protein_coding|1/9|c.91+53C>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:Kringle|ENST00000407188|protein_coding|2/9|c.91+53C>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:Kringle|ENST00000407188|protein_coding|3/9|c.91+53C>G||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000327813|protein_coding|1/9|c.97+47C>G||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000400338|protein_coding|1/8|c.97+47C>G||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000400335|protein_coding|1/8|c.97+47C>G||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000407188|protein_coding|1/8|c.91+53C>G|||||| 22 29490246 . A G . . ANN=G|missense_variant&splice_region_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000327813|protein_coding|2/10|c.98A>G|p.Glu33Gly|111/2719|98/1479|33/492||,G|missense_variant&splice_region_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000400338|protein_coding|2/9|c.98A>G|p.Glu33Gly|151/6182|98/1428|33/475||,G|missense_variant&splice_region_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000400335|protein_coding|2/9|c.98A>G|p.Glu33Gly|151/6138|98/1377|33/458||,G|missense_variant&splice_region_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000407188|protein_coding|2/9|c.92A>G|p.Glu31Gly|92/1422|92/1422|31/473||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|7/9|c.92A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|1/9|c.92A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|8/9|c.92A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|6/9|c.92A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|4/9|c.92A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|2/9|c.92A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|3/9|c.92A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|5/9|c.92A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:Kringle|ENST00000407188|protein_coding|1/9|c.92A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:Kringle|ENST00000407188|protein_coding|2/9|c.92A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:Kringle|ENST00000407188|protein_coding|3/9|c.92A>G||||||,G|downstream_gene_variant|MODIFIER|CTA-747E2.10|ENSG00000226772|transcript|ENST00000456740|antisense||n.*539T>C|||||4783| 22 29490261 . A G . . ANN=G|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000327813|protein_coding|2/10|c.113A>G|p.Asn38Ser|126/2719|113/1479|38/492||,G|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000400338|protein_coding|2/9|c.113A>G|p.Asn38Ser|166/6182|113/1428|38/475||,G|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000400335|protein_coding|2/9|c.113A>G|p.Asn38Ser|166/6138|113/1377|38/458||,G|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000407188|protein_coding|2/9|c.107A>G|p.Asn36Ser|107/1422|107/1422|36/473||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|disulfide_bond|ENST00000327813|protein_coding|2/10|c.113A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|disulfide_bond|ENST00000327813|protein_coding|3/10|c.113A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|disulfide_bond|ENST00000400335|protein_coding|2/9|c.113A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|disulfide_bond|ENST00000400335|protein_coding|3/9|c.113A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|7/9|c.107A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|1/9|c.107A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|8/9|c.107A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|6/9|c.107A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|4/9|c.107A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|2/9|c.107A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|3/9|c.107A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|5/9|c.107A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:Kringle|ENST00000407188|protein_coding|1/9|c.107A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:Kringle|ENST00000407188|protein_coding|2/9|c.107A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:Kringle|ENST00000407188|protein_coding|3/9|c.107A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|disulfide_bond|ENST00000407188|protein_coding|2/9|c.107A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|disulfide_bond|ENST00000407188|protein_coding|3/9|c.107A>G||||||,G|downstream_gene_variant|MODIFIER|CTA-747E2.10|ENSG00000226772|transcript|ENST00000456740|antisense||n.*539T>C|||||4768| 22 29490378 . AG A . . ANN=|frameshift_variant|HIGH|KREMEN1|ENSG00000183762|transcript|ENST00000327813|protein_coding|2/10|c.236delG|p.Gly79fs|249/2719|236/1479|79/492||INFO_REALIGN_3_PRIME,|frameshift_variant|HIGH|KREMEN1|ENSG00000183762|transcript|ENST00000400338|protein_coding|2/9|c.236delG|p.Gly79fs|289/6182|236/1428|79/475||INFO_REALIGN_3_PRIME,|frameshift_variant|HIGH|KREMEN1|ENSG00000183762|transcript|ENST00000400335|protein_coding|2/9|c.236delG|p.Gly79fs|289/6138|236/1377|79/458||INFO_REALIGN_3_PRIME,|frameshift_variant|HIGH|KREMEN1|ENSG00000183762|transcript|ENST00000407188|protein_coding|2/9|c.230delG|p.Gly77fs|230/1422|230/1422|77/473||INFO_REALIGN_3_PRIME,|sequence_feature|LOW|KREMEN1|ENSG00000183762|disulfide_bond|ENST00000327813|protein_coding|2/10|c.231delG||||||,|sequence_feature|LOW|KREMEN1|ENSG00000183762|disulfide_bond|ENST00000327813|protein_coding|3/10|c.231delG||||||,|sequence_feature|LOW|KREMEN1|ENSG00000183762|disulfide_bond|ENST00000400335|protein_coding|2/9|c.231delG||||||,|sequence_feature|LOW|KREMEN1|ENSG00000183762|disulfide_bond|ENST00000400335|protein_coding|3/9|c.231delG||||||,|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|7/9|c.225delG||||||,|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|1/9|c.225delG||||||,|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|8/9|c.225delG||||||,|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|6/9|c.225delG||||||,|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|4/9|c.225delG||||||,|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|2/9|c.225delG||||||,|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|3/9|c.225delG||||||,|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|5/9|c.225delG||||||,|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:Kringle|ENST00000407188|protein_coding|1/9|c.225delG||||||,|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:Kringle|ENST00000407188|protein_coding|2/9|c.225delG||||||,|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:Kringle|ENST00000407188|protein_coding|3/9|c.225delG||||||,|sequence_feature|LOW|KREMEN1|ENSG00000183762|disulfide_bond|ENST00000407188|protein_coding|2/9|c.225delG||||||,|sequence_feature|LOW|KREMEN1|ENSG00000183762|disulfide_bond|ENST00000407188|protein_coding|3/9|c.225delG||||||,|downstream_gene_variant|MODIFIER|CTA-747E2.10|ENSG00000226772|transcript|ENST00000456740|antisense||n.*539delC|||||4650|;LOF=(KREMEN1|ENSG00000183762|7|0.57) 22 29490381 . G C . . ANN=C|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000327813|protein_coding|2/10|c.233G>C|p.Gly78Ala|246/2719|233/1479|78/492||,C|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000400338|protein_coding|2/9|c.233G>C|p.Gly78Ala|286/6182|233/1428|78/475||,C|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000400335|protein_coding|2/9|c.233G>C|p.Gly78Ala|286/6138|233/1377|78/458||,C|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000407188|protein_coding|2/9|c.227G>C|p.Gly76Ala|227/1422|227/1422|76/473||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|disulfide_bond|ENST00000327813|protein_coding|2/10|c.233G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|disulfide_bond|ENST00000327813|protein_coding|3/10|c.233G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|disulfide_bond|ENST00000400335|protein_coding|2/9|c.233G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|disulfide_bond|ENST00000400335|protein_coding|3/9|c.233G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|7/9|c.227G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|1/9|c.227G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|8/9|c.227G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|6/9|c.227G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|4/9|c.227G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|2/9|c.227G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|3/9|c.227G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|5/9|c.227G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:Kringle|ENST00000407188|protein_coding|1/9|c.227G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:Kringle|ENST00000407188|protein_coding|2/9|c.227G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:Kringle|ENST00000407188|protein_coding|3/9|c.227G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|disulfide_bond|ENST00000407188|protein_coding|2/9|c.227G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|disulfide_bond|ENST00000407188|protein_coding|3/9|c.227G>C||||||,C|downstream_gene_variant|MODIFIER|CTA-747E2.10|ENSG00000226772|transcript|ENST00000456740|antisense||n.*539C>G|||||4648| 22 29490457 . CTCT C . . ANN=|sequence_feature|LOW|KREMEN1|ENSG00000183762|disulfide_bond|ENST00000327813|protein_coding|2/10|c.260+50_260+52delTCT||||||,|sequence_feature|LOW|KREMEN1|ENSG00000183762|disulfide_bond|ENST00000327813|protein_coding|3/10|c.260+50_260+52delTCT||||||,|sequence_feature|LOW|KREMEN1|ENSG00000183762|disulfide_bond|ENST00000400335|protein_coding|2/9|c.260+50_260+52delTCT||||||,|sequence_feature|LOW|KREMEN1|ENSG00000183762|disulfide_bond|ENST00000400335|protein_coding|3/9|c.260+50_260+52delTCT||||||,|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|7/9|c.254+50_254+52delTCT||||||,|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|1/9|c.254+50_254+52delTCT||||||,|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|8/9|c.254+50_254+52delTCT||||||,|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|6/9|c.254+50_254+52delTCT||||||,|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|4/9|c.254+50_254+52delTCT||||||,|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|2/9|c.254+50_254+52delTCT||||||,|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|3/9|c.254+50_254+52delTCT||||||,|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|5/9|c.254+50_254+52delTCT||||||,|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:Kringle|ENST00000407188|protein_coding|1/9|c.254+50_254+52delTCT||||||,|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:Kringle|ENST00000407188|protein_coding|2/9|c.254+50_254+52delTCT||||||,|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:Kringle|ENST00000407188|protein_coding|3/9|c.254+50_254+52delTCT||||||,|sequence_feature|LOW|KREMEN1|ENSG00000183762|disulfide_bond|ENST00000407188|protein_coding|2/9|c.254+50_254+52delTCT||||||,|sequence_feature|LOW|KREMEN1|ENSG00000183762|disulfide_bond|ENST00000407188|protein_coding|3/9|c.254+50_254+52delTCT||||||,|downstream_gene_variant|MODIFIER|CTA-747E2.10|ENSG00000226772|transcript|ENST00000456740|antisense||n.*539_*539delAGA|||||4571|,|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000327813|protein_coding|2/9|c.260+55_260+57delTTC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000400338|protein_coding|2/8|c.260+55_260+57delTTC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000400335|protein_coding|2/8|c.260+55_260+57delTTC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000407188|protein_coding|2/8|c.254+55_254+57delTTC||||||INFO_REALIGN_3_PRIME 22 29494985 . C T . . ANN=T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000327813|protein_coding|6/10|c.352+44C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000327813|protein_coding|4/10|c.352+44C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000327813|protein_coding|3/10|c.352+44C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000327813|protein_coding|5/10|c.352+44C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000400335|protein_coding|6/9|c.352+44C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000400335|protein_coding|4/9|c.352+44C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000400335|protein_coding|3/9|c.352+44C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000400335|protein_coding|5/9|c.352+44C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|7/9|c.346+44C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|1/9|c.346+44C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|8/9|c.346+44C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|6/9|c.346+44C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|4/9|c.346+44C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|2/9|c.346+44C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|3/9|c.346+44C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|5/9|c.346+44C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000407188|protein_coding|6/9|c.346+44C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000407188|protein_coding|4/9|c.346+44C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000407188|protein_coding|3/9|c.346+44C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000407188|protein_coding|5/9|c.346+44C>T||||||,T|downstream_gene_variant|MODIFIER|CTA-747E2.10|ENSG00000226772|transcript|ENST00000456740|antisense||n.*539G>A|||||44|,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000327813|protein_coding|3/9|c.352+44C>T||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000400338|protein_coding|3/8|c.352+44C>T||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000400335|protein_coding|3/8|c.352+44C>T||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000407188|protein_coding|3/8|c.346+44C>T|||||| 22 29517463 . G T . . ANN=T|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000327813|protein_coding|4/10|c.471G>T|p.Arg157Ser|484/2719|471/1479|157/492||,T|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000400338|protein_coding|4/9|c.471G>T|p.Arg157Ser|524/6182|471/1428|157/475||,T|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000400335|protein_coding|4/9|c.471G>T|p.Arg157Ser|524/6138|471/1377|157/458||,T|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000407188|protein_coding|4/9|c.465G>T|p.Arg155Ser|465/1422|465/1422|155/473||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000327813|protein_coding|6/10|c.471G>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000327813|protein_coding|4/10|c.471G>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000327813|protein_coding|3/10|c.471G>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000327813|protein_coding|5/10|c.471G>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000400335|protein_coding|6/9|c.471G>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000400335|protein_coding|4/9|c.471G>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000400335|protein_coding|3/9|c.471G>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000400335|protein_coding|5/9|c.471G>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|7/9|c.465G>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|1/9|c.465G>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|8/9|c.465G>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|6/9|c.465G>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|4/9|c.465G>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|2/9|c.465G>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|3/9|c.465G>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|5/9|c.465G>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000407188|protein_coding|6/9|c.465G>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000407188|protein_coding|4/9|c.465G>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000407188|protein_coding|3/9|c.465G>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000407188|protein_coding|5/9|c.465G>T||||||,T|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000474001|retained_intron||n.-1G>T|||||3722|,T|non_coding_exon_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000453585|nonsense_mediated_decay|1/4|n.33G>T|||||| 22 29521226 . G A . . ANN=A|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000327813|protein_coding|6/10|c.478-25G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000327813|protein_coding|4/10|c.478-25G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000327813|protein_coding|3/10|c.478-25G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000327813|protein_coding|5/10|c.478-25G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000400335|protein_coding|6/9|c.478-25G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000400335|protein_coding|4/9|c.478-25G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000400335|protein_coding|3/9|c.478-25G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000400335|protein_coding|5/9|c.478-25G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|7/9|c.472-25G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|1/9|c.472-25G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|8/9|c.472-25G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|6/9|c.472-25G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|4/9|c.472-25G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|2/9|c.472-25G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|3/9|c.472-25G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|5/9|c.472-25G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000407188|protein_coding|6/9|c.472-25G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000407188|protein_coding|4/9|c.472-25G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000407188|protein_coding|3/9|c.472-25G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000407188|protein_coding|5/9|c.472-25G>A||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000327813|protein_coding|4/9|c.478-25G>A||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000400338|protein_coding|4/8|c.478-25G>A||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000400335|protein_coding|4/8|c.478-25G>A||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000407188|protein_coding|4/8|c.472-25G>A||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000453585|nonsense_mediated_decay|1/3|n.40-25G>A||||||,A|non_coding_exon_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000474001|retained_intron|1/3|n.42G>A|||||| 22 29521228 . G C . . ANN=C|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000327813|protein_coding|6/10|c.478-23G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000327813|protein_coding|4/10|c.478-23G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000327813|protein_coding|3/10|c.478-23G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000327813|protein_coding|5/10|c.478-23G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000400335|protein_coding|6/9|c.478-23G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000400335|protein_coding|4/9|c.478-23G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000400335|protein_coding|3/9|c.478-23G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000400335|protein_coding|5/9|c.478-23G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|7/9|c.472-23G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|1/9|c.472-23G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|8/9|c.472-23G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|6/9|c.472-23G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|4/9|c.472-23G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|2/9|c.472-23G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|3/9|c.472-23G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|5/9|c.472-23G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000407188|protein_coding|6/9|c.472-23G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000407188|protein_coding|4/9|c.472-23G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000407188|protein_coding|3/9|c.472-23G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000407188|protein_coding|5/9|c.472-23G>C||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000327813|protein_coding|4/9|c.478-23G>C||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000400338|protein_coding|4/8|c.478-23G>C||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000400335|protein_coding|4/8|c.478-23G>C||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000407188|protein_coding|4/8|c.472-23G>C||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000453585|nonsense_mediated_decay|1/3|n.40-23G>C||||||,C|non_coding_exon_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000474001|retained_intron|1/3|n.44G>C|||||| 22 29521292 . C T . . ANN=T|synonymous_variant|LOW|KREMEN1|ENSG00000183762|transcript|ENST00000327813|protein_coding|5/10|c.519C>T|p.Asn173Asn|532/2719|519/1479|173/492||,T|synonymous_variant|LOW|KREMEN1|ENSG00000183762|transcript|ENST00000400338|protein_coding|5/9|c.519C>T|p.Asn173Asn|572/6182|519/1428|173/475||,T|synonymous_variant|LOW|KREMEN1|ENSG00000183762|transcript|ENST00000400335|protein_coding|5/9|c.519C>T|p.Asn173Asn|572/6138|519/1377|173/458||,T|synonymous_variant|LOW|KREMEN1|ENSG00000183762|transcript|ENST00000407188|protein_coding|5/9|c.513C>T|p.Asn171Asn|513/1422|513/1422|171/473||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000327813|protein_coding|6/10|c.519C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000327813|protein_coding|4/10|c.519C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000327813|protein_coding|3/10|c.519C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000327813|protein_coding|5/10|c.519C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000400335|protein_coding|6/9|c.519C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000400335|protein_coding|4/9|c.519C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000400335|protein_coding|3/9|c.519C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000400335|protein_coding|5/9|c.519C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|7/9|c.513C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|1/9|c.513C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|8/9|c.513C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|6/9|c.513C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|4/9|c.513C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|2/9|c.513C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|3/9|c.513C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|5/9|c.513C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000407188|protein_coding|6/9|c.513C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000407188|protein_coding|4/9|c.513C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000407188|protein_coding|3/9|c.513C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000407188|protein_coding|5/9|c.513C>T||||||,T|non_coding_exon_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000453585|nonsense_mediated_decay|2/4|n.81C>T||||||,T|non_coding_exon_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000474001|retained_intron|1/3|n.108C>T|||||| 22 29521440 . C T . . ANN=T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000327813|protein_coding|6/10|c.631+36C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000327813|protein_coding|4/10|c.631+36C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000327813|protein_coding|3/10|c.631+36C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000327813|protein_coding|5/10|c.631+36C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000400335|protein_coding|6/9|c.631+36C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000400335|protein_coding|4/9|c.631+36C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000400335|protein_coding|3/9|c.631+36C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000400335|protein_coding|5/9|c.631+36C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|7/9|c.625+36C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|1/9|c.625+36C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|8/9|c.625+36C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|6/9|c.625+36C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|4/9|c.625+36C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|2/9|c.625+36C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|3/9|c.625+36C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|5/9|c.625+36C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000407188|protein_coding|6/9|c.625+36C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000407188|protein_coding|4/9|c.625+36C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000407188|protein_coding|3/9|c.625+36C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000407188|protein_coding|5/9|c.625+36C>T||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000327813|protein_coding|5/9|c.631+36C>T||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000400338|protein_coding|5/8|c.631+36C>T||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000400335|protein_coding|5/8|c.631+36C>T||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000407188|protein_coding|5/8|c.625+36C>T||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000453585|nonsense_mediated_decay|2/3|n.193+36C>T||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000474001|retained_intron|1/2|n.220+36C>T|||||| 22 29533437 . C T . . ANN=T|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000327813|protein_coding|6/10|c.739C>T|p.Arg247Trp|752/2719|739/1479|247/492||,T|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000400338|protein_coding|6/9|c.739C>T|p.Arg247Trp|792/6182|739/1428|247/475||,T|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000400335|protein_coding|6/9|c.739C>T|p.Arg247Trp|792/6138|739/1377|247/458||,T|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000407188|protein_coding|6/9|c.733C>T|p.Arg245Trp|733/1422|733/1422|245/473||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000327813|protein_coding|7/10|c.739C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000327813|protein_coding|6/10|c.739C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000400335|protein_coding|6/9|c.739C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000400335|protein_coding|7/9|c.739C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|7/9|c.733C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|1/9|c.733C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|8/9|c.733C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|6/9|c.733C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|4/9|c.733C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|2/9|c.733C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|3/9|c.733C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|5/9|c.733C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000407188|protein_coding|7/9|c.733C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000407188|protein_coding|6/9|c.733C>T||||||,T|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000479755|processed_transcript||n.-1C>T|||||4581|,T|downstream_gene_variant|MODIFIER|RNU6-810P|ENSG00000200871|transcript|ENST00000364001|snRNA||n.*107C>T|||||3329|,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000453585|nonsense_mediated_decay|2/3|n.194-53C>T||||||,T|non_coding_exon_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000474001|retained_intron|2/3|n.328C>T|||||| 22 29533499 . G A . . ANN=A|synonymous_variant|LOW|KREMEN1|ENSG00000183762|transcript|ENST00000327813|protein_coding|6/10|c.801G>A|p.Ala267Ala|814/2719|801/1479|267/492||,A|synonymous_variant|LOW|KREMEN1|ENSG00000183762|transcript|ENST00000400338|protein_coding|6/9|c.801G>A|p.Ala267Ala|854/6182|801/1428|267/475||,A|synonymous_variant|LOW|KREMEN1|ENSG00000183762|transcript|ENST00000400335|protein_coding|6/9|c.801G>A|p.Ala267Ala|854/6138|801/1377|267/458||,A|synonymous_variant|LOW|KREMEN1|ENSG00000183762|transcript|ENST00000407188|protein_coding|6/9|c.795G>A|p.Ala265Ala|795/1422|795/1422|265/473||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000327813|protein_coding|7/10|c.801G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000327813|protein_coding|6/10|c.801G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000400335|protein_coding|6/9|c.801G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000400335|protein_coding|7/9|c.801G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|7/9|c.795G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|1/9|c.795G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|8/9|c.795G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|6/9|c.795G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|4/9|c.795G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|2/9|c.795G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|3/9|c.795G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|5/9|c.795G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000407188|protein_coding|7/9|c.795G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000407188|protein_coding|6/9|c.795G>A||||||,A|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000479755|processed_transcript||n.-1G>A|||||4519|,A|downstream_gene_variant|MODIFIER|RNU6-810P|ENSG00000200871|transcript|ENST00000364001|snRNA||n.*107G>A|||||3391|,A|non_coding_exon_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000453585|nonsense_mediated_decay|3/4|n.203G>A||||||,A|non_coding_exon_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000474001|retained_intron|2/3|n.390G>A|||||| 22 29533536 . G A . . ANN=A|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000327813|protein_coding|6/10|c.838G>A|p.Val280Ile|851/2719|838/1479|280/492||,A|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000400338|protein_coding|6/9|c.838G>A|p.Val280Ile|891/6182|838/1428|280/475||,A|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000400335|protein_coding|6/9|c.838G>A|p.Val280Ile|891/6138|838/1377|280/458||,A|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000407188|protein_coding|6/9|c.832G>A|p.Val278Ile|832/1422|832/1422|278/473||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000327813|protein_coding|7/10|c.838G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000327813|protein_coding|6/10|c.838G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000400335|protein_coding|6/9|c.838G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000400335|protein_coding|7/9|c.838G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|7/9|c.832G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|1/9|c.832G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|8/9|c.832G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|6/9|c.832G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|4/9|c.832G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|2/9|c.832G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|3/9|c.832G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|5/9|c.832G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000407188|protein_coding|7/9|c.832G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000407188|protein_coding|6/9|c.832G>A||||||,A|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000479755|processed_transcript||n.-1G>A|||||4482|,A|downstream_gene_variant|MODIFIER|RNU6-810P|ENSG00000200871|transcript|ENST00000364001|snRNA||n.*107G>A|||||3428|,A|non_coding_exon_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000453585|nonsense_mediated_decay|3/4|n.240G>A||||||,A|non_coding_exon_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000474001|retained_intron|2/3|n.427G>A|||||| 22 29533551 . C T . . ANN=T|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000327813|protein_coding|6/10|c.853C>T|p.His285Tyr|866/2719|853/1479|285/492||,T|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000400338|protein_coding|6/9|c.853C>T|p.His285Tyr|906/6182|853/1428|285/475||,T|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000400335|protein_coding|6/9|c.853C>T|p.His285Tyr|906/6138|853/1377|285/458||,T|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000407188|protein_coding|6/9|c.847C>T|p.His283Tyr|847/1422|847/1422|283/473||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000327813|protein_coding|7/10|c.853C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000327813|protein_coding|6/10|c.853C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000400335|protein_coding|6/9|c.853C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000400335|protein_coding|7/9|c.853C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|7/9|c.847C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|1/9|c.847C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|8/9|c.847C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|6/9|c.847C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|4/9|c.847C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|2/9|c.847C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|3/9|c.847C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|5/9|c.847C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000407188|protein_coding|7/9|c.847C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000407188|protein_coding|6/9|c.847C>T||||||,T|3_prime_UTR_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000453585|nonsense_mediated_decay|3/4|n.*9C>T|||||9|,T|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000479755|processed_transcript||n.-1C>T|||||4467|,T|downstream_gene_variant|MODIFIER|RNU6-810P|ENSG00000200871|transcript|ENST00000364001|snRNA||n.*107C>T|||||3443|,T|non_coding_exon_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000453585|nonsense_mediated_decay|3/4|n.*9C>T||||||,T|non_coding_exon_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000474001|retained_intron|2/3|n.442C>T|||||| 22 29533553 . C T . . ANN=T|synonymous_variant|LOW|KREMEN1|ENSG00000183762|transcript|ENST00000327813|protein_coding|6/10|c.855C>T|p.His285His|868/2719|855/1479|285/492||,T|synonymous_variant|LOW|KREMEN1|ENSG00000183762|transcript|ENST00000400338|protein_coding|6/9|c.855C>T|p.His285His|908/6182|855/1428|285/475||,T|synonymous_variant|LOW|KREMEN1|ENSG00000183762|transcript|ENST00000400335|protein_coding|6/9|c.855C>T|p.His285His|908/6138|855/1377|285/458||,T|synonymous_variant|LOW|KREMEN1|ENSG00000183762|transcript|ENST00000407188|protein_coding|6/9|c.849C>T|p.His283His|849/1422|849/1422|283/473||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000327813|protein_coding|7/10|c.855C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000327813|protein_coding|6/10|c.855C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000400335|protein_coding|6/9|c.855C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000400335|protein_coding|7/9|c.855C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|7/9|c.849C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|1/9|c.849C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|8/9|c.849C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|6/9|c.849C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|4/9|c.849C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|2/9|c.849C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|3/9|c.849C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|5/9|c.849C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000407188|protein_coding|7/9|c.849C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000407188|protein_coding|6/9|c.849C>T||||||,T|3_prime_UTR_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000453585|nonsense_mediated_decay|3/4|n.*11C>T|||||11|,T|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000479755|processed_transcript||n.-1C>T|||||4465|,T|downstream_gene_variant|MODIFIER|RNU6-810P|ENSG00000200871|transcript|ENST00000364001|snRNA||n.*107C>T|||||3445|,T|non_coding_exon_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000453585|nonsense_mediated_decay|3/4|n.*11C>T||||||,T|non_coding_exon_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000474001|retained_intron|2/3|n.444C>T|||||| 22 29533572 . C G . . ANN=G|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000327813|protein_coding|6/10|c.874C>G|p.Leu292Val|887/2719|874/1479|292/492||,G|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000400338|protein_coding|6/9|c.874C>G|p.Leu292Val|927/6182|874/1428|292/475||,G|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000400335|protein_coding|6/9|c.874C>G|p.Leu292Val|927/6138|874/1377|292/458||,G|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000407188|protein_coding|6/9|c.868C>G|p.Leu290Val|868/1422|868/1422|290/473||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000327813|protein_coding|7/10|c.874C>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000327813|protein_coding|6/10|c.874C>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000400335|protein_coding|6/9|c.874C>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000400335|protein_coding|7/9|c.874C>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|7/9|c.868C>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|1/9|c.868C>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|8/9|c.868C>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|6/9|c.868C>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|4/9|c.868C>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|2/9|c.868C>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|3/9|c.868C>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|5/9|c.868C>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000407188|protein_coding|7/9|c.868C>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000407188|protein_coding|6/9|c.868C>G||||||,G|3_prime_UTR_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000453585|nonsense_mediated_decay|3/4|n.*30C>G|||||30|,G|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000479755|processed_transcript||n.-1C>G|||||4446|,G|downstream_gene_variant|MODIFIER|RNU6-810P|ENSG00000200871|transcript|ENST00000364001|snRNA||n.*107C>G|||||3464|,G|non_coding_exon_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000453585|nonsense_mediated_decay|3/4|n.*30C>G||||||,G|non_coding_exon_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000474001|retained_intron|2/3|n.463C>G|||||| 22 29533687 . G C . . ANN=C|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000327813|protein_coding|7/10|c.964+25G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000327813|protein_coding|6/10|c.964+25G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000400335|protein_coding|6/9|c.964+25G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000400335|protein_coding|7/9|c.964+25G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|7/9|c.958+25G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|1/9|c.958+25G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|8/9|c.958+25G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|6/9|c.958+25G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|4/9|c.958+25G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|2/9|c.958+25G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|3/9|c.958+25G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|5/9|c.958+25G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000407188|protein_coding|7/9|c.958+25G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000407188|protein_coding|6/9|c.958+25G>C||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000479755|processed_transcript||n.-1G>C|||||4331|,C|downstream_gene_variant|MODIFIER|RNU6-810P|ENSG00000200871|transcript|ENST00000364001|snRNA||n.*107G>C|||||3579|,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000327813|protein_coding|6/9|c.964+25G>C||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000400338|protein_coding|6/8|c.964+25G>C||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000400335|protein_coding|6/8|c.964+25G>C||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000407188|protein_coding|6/8|c.958+25G>C||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000453585|nonsense_mediated_decay|3/3|n.*120+25G>C||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000474001|retained_intron|2/2|n.553+25G>C|||||| 22 29533703 . C A . . ANN=A|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000327813|protein_coding|7/10|c.964+41C>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000327813|protein_coding|6/10|c.964+41C>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000400335|protein_coding|6/9|c.964+41C>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000400335|protein_coding|7/9|c.964+41C>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|7/9|c.958+41C>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|1/9|c.958+41C>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|8/9|c.958+41C>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|6/9|c.958+41C>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|4/9|c.958+41C>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|2/9|c.958+41C>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|3/9|c.958+41C>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|5/9|c.958+41C>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000407188|protein_coding|7/9|c.958+41C>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000407188|protein_coding|6/9|c.958+41C>A||||||,A|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000479755|processed_transcript||n.-1C>A|||||4315|,A|downstream_gene_variant|MODIFIER|RNU6-810P|ENSG00000200871|transcript|ENST00000364001|snRNA||n.*107C>A|||||3595|,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000327813|protein_coding|6/9|c.964+41C>A||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000400338|protein_coding|6/8|c.964+41C>A||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000400335|protein_coding|6/8|c.964+41C>A||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000407188|protein_coding|6/8|c.958+41C>A||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000453585|nonsense_mediated_decay|3/3|n.*120+41C>A||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000474001|retained_intron|2/2|n.553+41C>A|||||| 22 29534621 . A G . . ANN=G|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000327813|protein_coding|7/10|c.974A>G|p.Glu325Gly|987/2719|974/1479|325/492||,G|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000400338|protein_coding|7/9|c.974A>G|p.Glu325Gly|1027/6182|974/1428|325/475||,G|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000400335|protein_coding|7/9|c.974A>G|p.Glu325Gly|1027/6138|974/1377|325/458||,G|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000407188|protein_coding|7/9|c.968A>G|p.Glu323Gly|968/1422|968/1422|323/473||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|7/9|c.968A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|1/9|c.968A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|8/9|c.968A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|6/9|c.968A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|4/9|c.968A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|2/9|c.968A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|3/9|c.968A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|5/9|c.968A>G||||||,G|3_prime_UTR_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000453585|nonsense_mediated_decay|4/4|n.*130A>G|||||1079|,G|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000479755|processed_transcript||n.-1A>G|||||3397|,G|downstream_gene_variant|MODIFIER|RNU6-810P|ENSG00000200871|transcript|ENST00000364001|snRNA||n.*107A>G|||||4513|,G|non_coding_exon_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000453585|nonsense_mediated_decay|4/4|n.*130A>G||||||,G|non_coding_exon_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000474001|retained_intron|3/3|n.563A>G|||||| 22 29534635 . G A . . ANN=A|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000327813|protein_coding|7/10|c.988G>A|p.Glu330Lys|1001/2719|988/1479|330/492||,A|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000400338|protein_coding|7/9|c.988G>A|p.Glu330Lys|1041/6182|988/1428|330/475||,A|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000400335|protein_coding|7/9|c.988G>A|p.Glu330Lys|1041/6138|988/1377|330/458||,A|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000407188|protein_coding|7/9|c.982G>A|p.Glu328Lys|982/1422|982/1422|328/473||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|7/9|c.982G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|1/9|c.982G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|8/9|c.982G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|6/9|c.982G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|4/9|c.982G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|2/9|c.982G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|3/9|c.982G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|5/9|c.982G>A||||||,A|3_prime_UTR_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000453585|nonsense_mediated_decay|4/4|n.*144G>A|||||1093|,A|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000479755|processed_transcript||n.-1G>A|||||3383|,A|downstream_gene_variant|MODIFIER|RNU6-810P|ENSG00000200871|transcript|ENST00000364001|snRNA||n.*107G>A|||||4527|,A|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000474001|retained_intron||n.*572G>A|||||5|,A|non_coding_exon_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000453585|nonsense_mediated_decay|4/4|n.*144G>A|||||| 22 29534659 . G T . . ANN=T|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000327813|protein_coding|7/10|c.1012G>T|p.Val338Leu|1025/2719|1012/1479|338/492||,T|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000400338|protein_coding|7/9|c.1012G>T|p.Val338Leu|1065/6182|1012/1428|338/475||,T|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000400335|protein_coding|7/9|c.1012G>T|p.Val338Leu|1065/6138|1012/1377|338/458||,T|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000407188|protein_coding|7/9|c.1006G>T|p.Val336Leu|1006/1422|1006/1422|336/473||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|7/9|c.1006G>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|1/9|c.1006G>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|8/9|c.1006G>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|6/9|c.1006G>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|4/9|c.1006G>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|2/9|c.1006G>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|3/9|c.1006G>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|5/9|c.1006G>T||||||,T|3_prime_UTR_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000453585|nonsense_mediated_decay|4/4|n.*168G>T|||||1117|,T|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000479755|processed_transcript||n.-1G>T|||||3359|,T|downstream_gene_variant|MODIFIER|RNU6-810P|ENSG00000200871|transcript|ENST00000364001|snRNA||n.*107G>T|||||4551|,T|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000474001|retained_intron||n.*572G>T|||||29|,T|non_coding_exon_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000453585|nonsense_mediated_decay|4/4|n.*168G>T|||||| 22 29534664 . C T . . ANN=T|synonymous_variant|LOW|KREMEN1|ENSG00000183762|transcript|ENST00000327813|protein_coding|7/10|c.1017C>T|p.Ala339Ala|1030/2719|1017/1479|339/492||,T|synonymous_variant|LOW|KREMEN1|ENSG00000183762|transcript|ENST00000400338|protein_coding|7/9|c.1017C>T|p.Ala339Ala|1070/6182|1017/1428|339/475||,T|synonymous_variant|LOW|KREMEN1|ENSG00000183762|transcript|ENST00000400335|protein_coding|7/9|c.1017C>T|p.Ala339Ala|1070/6138|1017/1377|339/458||,T|synonymous_variant|LOW|KREMEN1|ENSG00000183762|transcript|ENST00000407188|protein_coding|7/9|c.1011C>T|p.Ala337Ala|1011/1422|1011/1422|337/473||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|7/9|c.1011C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|1/9|c.1011C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|8/9|c.1011C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|6/9|c.1011C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|4/9|c.1011C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|2/9|c.1011C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|3/9|c.1011C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|5/9|c.1011C>T||||||,T|3_prime_UTR_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000453585|nonsense_mediated_decay|4/4|n.*173C>T|||||1122|,T|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000479755|processed_transcript||n.-1C>T|||||3354|,T|downstream_gene_variant|MODIFIER|RNU6-810P|ENSG00000200871|transcript|ENST00000364001|snRNA||n.*107C>T|||||4556|,T|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000474001|retained_intron||n.*572C>T|||||34|,T|non_coding_exon_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000453585|nonsense_mediated_decay|4/4|n.*173C>T|||||| 22 29534832 . T C . . ANN=C|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|7/9|c.1168+11T>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|1/9|c.1168+11T>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|8/9|c.1168+11T>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|6/9|c.1168+11T>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|4/9|c.1168+11T>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|2/9|c.1168+11T>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|3/9|c.1168+11T>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|5/9|c.1168+11T>C||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000479755|processed_transcript||n.-1T>C|||||3186|,C|downstream_gene_variant|MODIFIER|RNU6-810P|ENSG00000200871|transcript|ENST00000364001|snRNA||n.*107T>C|||||4724|,C|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000453585|nonsense_mediated_decay||n.*248T>C|||||73|,C|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000474001|retained_intron||n.*572T>C|||||202|,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000327813|protein_coding|7/9|c.1174+11T>C||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000400338|protein_coding|7/8|c.1174+11T>C||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000400335|protein_coding|7/8|c.1123+62T>C||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000407188|protein_coding|7/8|c.1168+11T>C|||||| 22 29536238 . A G . . ANN=G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|7/9|c.1169-32A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|1/9|c.1169-32A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|8/9|c.1169-32A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|6/9|c.1169-32A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|4/9|c.1169-32A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|2/9|c.1169-32A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|3/9|c.1169-32A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|5/9|c.1169-32A>G||||||,G|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000479755|processed_transcript||n.-1A>G|||||1780|,G|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000453585|nonsense_mediated_decay||n.*248A>G|||||1479|,G|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000474001|retained_intron||n.*572A>G|||||1608|,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000327813|protein_coding|7/9|c.1175-32A>G||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000400338|protein_coding|7/8|c.1175-32A>G||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000400335|protein_coding|7/8|c.1124-32A>G||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000407188|protein_coding|7/8|c.1169-32A>G|||||| 22 29536343 . C T . . ANN=T|synonymous_variant|LOW|KREMEN1|ENSG00000183762|transcript|ENST00000327813|protein_coding|8/10|c.1248C>T|p.His416His|1261/2719|1248/1479|416/492||,T|synonymous_variant|LOW|KREMEN1|ENSG00000183762|transcript|ENST00000400338|protein_coding|8/9|c.1248C>T|p.His416His|1301/6182|1248/1428|416/475||,T|synonymous_variant|LOW|KREMEN1|ENSG00000183762|transcript|ENST00000400335|protein_coding|8/9|c.1197C>T|p.His399His|1250/6138|1197/1377|399/458||,T|synonymous_variant|LOW|KREMEN1|ENSG00000183762|transcript|ENST00000407188|protein_coding|8/9|c.1242C>T|p.His414His|1242/1422|1242/1422|414/473||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Cytoplasmic|ENST00000400335|protein_coding|8/9|c.1197C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Cytoplasmic|ENST00000400335|protein_coding|9/9|c.1197C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Cytoplasmic|ENST00000407188|protein_coding|8/9|c.1242C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Cytoplasmic|ENST00000407188|protein_coding|9/9|c.1242C>T||||||,T|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000479755|processed_transcript||n.-1C>T|||||1675|,T|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000453585|nonsense_mediated_decay||n.*248C>T|||||1584|,T|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000474001|retained_intron||n.*572C>T|||||1713| 22 29536383 . C T . . ANN=T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Cytoplasmic|ENST00000400335|protein_coding|8/9|c.1208+29C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Cytoplasmic|ENST00000400335|protein_coding|9/9|c.1208+29C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Cytoplasmic|ENST00000407188|protein_coding|8/9|c.1253+29C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Cytoplasmic|ENST00000407188|protein_coding|9/9|c.1253+29C>T||||||,T|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000479755|processed_transcript||n.-1C>T|||||1635|,T|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000453585|nonsense_mediated_decay||n.*248C>T|||||1624|,T|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000474001|retained_intron||n.*572C>T|||||1753|,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000327813|protein_coding|8/9|c.1259+29C>T||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000400338|protein_coding|8/8|c.1259+29C>T||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000400335|protein_coding|8/8|c.1208+29C>T||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000407188|protein_coding|8/8|c.1253+29C>T|||||| 22 29537940 . G A . . ANN=A|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000327813|protein_coding|9/10|c.1268G>A|p.Arg423His|1281/2719|1268/1479|423/492||,A|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000400338|protein_coding|9/9|c.1268G>A|p.Arg423His|1321/6182|1268/1428|423/475||,A|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000400335|protein_coding|9/9|c.1217G>A|p.Arg406His|1270/6138|1217/1377|406/458||,A|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000407188|protein_coding|9/9|c.1262G>A|p.Arg421His|1262/1422|1262/1422|421/473||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Cytoplasmic|ENST00000400335|protein_coding|8/9|c.1217G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Cytoplasmic|ENST00000400335|protein_coding|9/9|c.1217G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Cytoplasmic|ENST00000407188|protein_coding|8/9|c.1262G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Cytoplasmic|ENST00000407188|protein_coding|9/9|c.1262G>A||||||,A|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000479755|processed_transcript||n.-1G>A|||||78|,A|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000453585|nonsense_mediated_decay||n.*248G>A|||||3181|,A|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000474001|retained_intron||n.*572G>A|||||3310| 22 29537965 . G A . . ANN=A|synonymous_variant|LOW|KREMEN1|ENSG00000183762|transcript|ENST00000327813|protein_coding|9/10|c.1293G>A|p.Arg431Arg|1306/2719|1293/1479|431/492||,A|synonymous_variant|LOW|KREMEN1|ENSG00000183762|transcript|ENST00000400338|protein_coding|9/9|c.1293G>A|p.Arg431Arg|1346/6182|1293/1428|431/475||,A|synonymous_variant|LOW|KREMEN1|ENSG00000183762|transcript|ENST00000400335|protein_coding|9/9|c.1242G>A|p.Arg414Arg|1295/6138|1242/1377|414/458||,A|synonymous_variant|LOW|KREMEN1|ENSG00000183762|transcript|ENST00000407188|protein_coding|9/9|c.1287G>A|p.Arg429Arg|1287/1422|1287/1422|429/473||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Cytoplasmic|ENST00000400335|protein_coding|8/9|c.1242G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Cytoplasmic|ENST00000400335|protein_coding|9/9|c.1242G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Cytoplasmic|ENST00000407188|protein_coding|8/9|c.1287G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Cytoplasmic|ENST00000407188|protein_coding|9/9|c.1287G>A||||||,A|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000479755|processed_transcript||n.-1G>A|||||53|,A|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000453585|nonsense_mediated_decay||n.*248G>A|||||3206|,A|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000474001|retained_intron||n.*572G>A|||||3335| 22 29537989 . G A . . ANN=A|synonymous_variant|LOW|KREMEN1|ENSG00000183762|transcript|ENST00000327813|protein_coding|9/10|c.1317G>A|p.Ser439Ser|1330/2719|1317/1479|439/492||,A|synonymous_variant|LOW|KREMEN1|ENSG00000183762|transcript|ENST00000400338|protein_coding|9/9|c.1317G>A|p.Ser439Ser|1370/6182|1317/1428|439/475||,A|synonymous_variant|LOW|KREMEN1|ENSG00000183762|transcript|ENST00000400335|protein_coding|9/9|c.1266G>A|p.Ser422Ser|1319/6138|1266/1377|422/458||,A|synonymous_variant|LOW|KREMEN1|ENSG00000183762|transcript|ENST00000407188|protein_coding|9/9|c.1311G>A|p.Ser437Ser|1311/1422|1311/1422|437/473||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Cytoplasmic|ENST00000400335|protein_coding|8/9|c.1266G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Cytoplasmic|ENST00000400335|protein_coding|9/9|c.1266G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Cytoplasmic|ENST00000407188|protein_coding|8/9|c.1311G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Cytoplasmic|ENST00000407188|protein_coding|9/9|c.1311G>A||||||,A|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000479755|processed_transcript||n.-1G>A|||||29|,A|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000453585|nonsense_mediated_decay||n.*248G>A|||||3230|,A|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000474001|retained_intron||n.*572G>A|||||3359| 22 29602009 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding|1/15|c.-19G>A|||||19|,A|5_prime_UTR_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding|1/15|c.-19G>A|||||19|,A|5_prime_UTR_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000429226|protein_coding|1/7|c.-19G>A|||||19|WARNING_TRANSCRIPT_NO_STOP_CODON,A|5_prime_UTR_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding|1/14|c.-19G>A|||||19|,A|5_prime_UTR_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000430127|protein_coding|1/6|c.-19G>A|||||19|WARNING_TRANSCRIPT_NO_STOP_CODON,A|5_prime_UTR_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000435427|nonsense_mediated_decay|1/4|n.-19G>A|||||19|,A|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000435427|nonsense_mediated_decay|1/4|n.-19G>A|||||| 22 29602136 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding|1/14|c.101+8C>T||||||,T|splice_region_variant&intron_variant|LOW|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding|1/14|c.101+8C>T||||||,T|splice_region_variant&intron_variant|LOW|EMID1|ENSG00000186998|transcript|ENST00000429226|protein_coding|1/6|c.101+8C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|splice_region_variant&intron_variant|LOW|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding|1/13|c.101+8C>T||||||,T|splice_region_variant&intron_variant|LOW|EMID1|ENSG00000186998|transcript|ENST00000430127|protein_coding|1/5|c.101+8C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|splice_region_variant&intron_variant|LOW|EMID1|ENSG00000186998|transcript|ENST00000435427|nonsense_mediated_decay|1/3|n.101+8C>T|||||| 22 29602159 . T C . . ANN=C|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding|1/14|c.101+31T>C||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding|1/14|c.101+31T>C||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000429226|protein_coding|1/6|c.101+31T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding|1/13|c.101+31T>C||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000430127|protein_coding|1/5|c.101+31T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000435427|nonsense_mediated_decay|1/3|n.101+31T>C|||||| 22 29610881 . G A . . ANN=A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000484039|processed_transcript||n.-1G>A|||||685|,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding|1/14|c.102-34G>A||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding|1/14|c.102-34G>A||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000429226|protein_coding|1/6|c.102-34G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding|1/13|c.102-34G>A||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000430127|protein_coding|1/5|c.102-34G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000435427|nonsense_mediated_decay|1/3|n.101+8753G>A|||||| 22 29611019 . C T . . ANN=T|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding|2/15|c.206C>T|p.Pro69Leu|333/2118|206/1338|69/445||,T|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding|2/15|c.206C>T|p.Pro69Leu|394/2173|206/1332|69/443||,T|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000429226|protein_coding|2/7|c.206C>T|p.Pro69Leu|339/769|206/636|69/211||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding|2/14|c.206C>T|p.Pro69Leu|333/2049|206/1269|69/422||,T|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000430127|protein_coding|2/6|c.206C>T|p.Pro69Leu|322/641|206/525|69/174||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|EMID1|ENSG00000186998|disulfide_bond|ENST00000334018|protein_coding|3/15|c.206C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|disulfide_bond|ENST00000334018|protein_coding|2/15|c.206C>T||||||,T|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000484039|processed_transcript||n.-1C>T|||||547|,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000435427|nonsense_mediated_decay|1/3|n.101+8891C>T|||||| 22 29621128 . C G . . ANN=G|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding|4/15|c.326C>G|p.Ala109Gly|453/2118|326/1338|109/445||,G|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding|4/15|c.326C>G|p.Ala109Gly|514/2173|326/1332|109/443||,G|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000429226|protein_coding|4/7|c.326C>G|p.Ala109Gly|459/769|326/636|109/211||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding|4/14|c.326C>G|p.Ala109Gly|453/2049|326/1269|109/422||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000430127|protein_coding|3/5|c.320-1351C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000435427|nonsense_mediated_decay|1/3|n.102-5881C>G||||||,G|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000484039|processed_transcript|2/8|n.61C>G|||||| 22 29621173 . G A . . ANN=A|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding|4/15|c.371G>A|p.Arg124Gln|498/2118|371/1338|124/445||,A|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding|4/15|c.371G>A|p.Arg124Gln|559/2173|371/1332|124/443||,A|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000429226|protein_coding|4/7|c.371G>A|p.Arg124Gln|504/769|371/636|124/211||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding|4/14|c.371G>A|p.Arg124Gln|498/2049|371/1269|124/422||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000430127|protein_coding|3/5|c.320-1306G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000435427|nonsense_mediated_decay|1/3|n.102-5836G>A||||||,A|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000484039|processed_transcript|2/8|n.106G>A|||||| 22 29621188 . G A . . ANN=A|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding|4/15|c.386G>A|p.Arg129Gln|513/2118|386/1338|129/445||,A|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding|4/15|c.386G>A|p.Arg129Gln|574/2173|386/1332|129/443||,A|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000429226|protein_coding|4/7|c.386G>A|p.Arg129Gln|519/769|386/636|129/211||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding|4/14|c.386G>A|p.Arg129Gln|513/2049|386/1269|129/422||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000430127|protein_coding|3/5|c.320-1291G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000435427|nonsense_mediated_decay|1/3|n.102-5821G>A||||||,A|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000484039|processed_transcript|2/8|n.121G>A|||||| 22 29621222 . C T . . ANN=T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding|4/14|c.403+17C>T||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding|4/14|c.403+17C>T||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000429226|protein_coding|4/6|c.403+17C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding|4/13|c.403+17C>T||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000430127|protein_coding|3/5|c.320-1257C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000435427|nonsense_mediated_decay|1/3|n.102-5787C>T||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000484039|processed_transcript|2/7|n.138+17C>T|||||| 22 29627111 . G A . . ANN=A|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding|6/15|c.568G>A|p.Gly190Arg|695/2118|568/1338|190/445||,A|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding|6/15|c.568G>A|p.Gly190Arg|756/2173|568/1332|190/443||,A|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000429226|protein_coding|6/7|c.568G>A|p.Gly190Arg|701/769|568/636|190/211||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding|6/14|c.568G>A|p.Gly190Arg|695/2049|568/1269|190/422||,A|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000430127|protein_coding|5/6|c.484G>A|p.Gly162Arg|600/641|484/525|162/174||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000433143|protein_coding|1/9|c.103G>A|p.Gly35Arg|105/707|103/705|35/234||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|9/15|c.568G>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|12/15|c.568G>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|10/15|c.568G>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|6/15|c.568G>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|7/15|c.568G>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|13/15|c.568G>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|8/15|c.568G>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|11/15|c.568G>A||||||,A|3_prime_UTR_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000435427|nonsense_mediated_decay|2/4|n.*99G>A|||||99|,A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000473933|retained_intron||n.-1G>A|||||560|,A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron||n.-1G>A|||||1214|,A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000487477|retained_intron||n.-1G>A|||||2224|,A|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000435427|nonsense_mediated_decay|2/4|n.*99G>A||||||,A|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000484039|processed_transcript|4/8|n.371G>A|||||| 22 29627151 . C G . . ANN=G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|9/15|c.586+22C>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|12/15|c.586+22C>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|10/15|c.586+22C>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|6/15|c.586+22C>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|7/15|c.586+22C>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|13/15|c.586+22C>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|8/15|c.586+22C>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|11/15|c.586+22C>G||||||,G|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000473933|retained_intron||n.-1C>G|||||520|,G|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron||n.-1C>G|||||1174|,G|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000487477|retained_intron||n.-1C>G|||||2184|,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding|6/14|c.586+22C>G||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding|6/14|c.586+22C>G||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000429226|protein_coding|6/6|c.586+22C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding|6/13|c.586+22C>G||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000430127|protein_coding|5/5|c.502+22C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000435427|nonsense_mediated_decay|2/3|n.*117+22C>G||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000484039|processed_transcript|4/7|n.389+22C>G||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000433143|protein_coding|1/8|c.121+22C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 29627166 . C T . . ANN=T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|9/15|c.586+37C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|12/15|c.586+37C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|10/15|c.586+37C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|6/15|c.586+37C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|7/15|c.586+37C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|13/15|c.586+37C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|8/15|c.586+37C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|11/15|c.586+37C>T||||||,T|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000473933|retained_intron||n.-1C>T|||||505|,T|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron||n.-1C>T|||||1159|,T|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000487477|retained_intron||n.-1C>T|||||2169|,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding|6/14|c.586+37C>T||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding|6/14|c.586+37C>T||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000429226|protein_coding|6/6|c.586+37C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding|6/13|c.586+37C>T||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000430127|protein_coding|5/5|c.502+37C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000435427|nonsense_mediated_decay|2/3|n.*117+37C>T||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000484039|processed_transcript|4/7|n.389+37C>T||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000433143|protein_coding|1/8|c.121+37C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 29627532 . G T . . ANN=T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|9/15|c.587-50G>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|12/15|c.587-50G>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|10/15|c.587-50G>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|6/15|c.587-50G>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|7/15|c.587-50G>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|13/15|c.587-50G>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|8/15|c.587-50G>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|11/15|c.587-50G>T||||||,T|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000473933|retained_intron||n.-1G>T|||||139|,T|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron||n.-1G>T|||||793|,T|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000487477|retained_intron||n.-1G>T|||||1803|,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding|6/14|c.587-50G>T||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding|6/14|c.587-50G>T||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000429226|protein_coding|6/6|c.586+403G>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding|6/13|c.587-50G>T||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000430127|protein_coding|5/5|c.503-50G>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000435427|nonsense_mediated_decay|2/3|n.*118-50G>T||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000484039|processed_transcript|4/7|n.390-50G>T||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000433143|protein_coding|2/8|c.172+35G>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 29627536 . C G . . ANN=G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|9/15|c.587-46C>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|12/15|c.587-46C>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|10/15|c.587-46C>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|6/15|c.587-46C>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|7/15|c.587-46C>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|13/15|c.587-46C>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|8/15|c.587-46C>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|11/15|c.587-46C>G||||||,G|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000473933|retained_intron||n.-1C>G|||||135|,G|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron||n.-1C>G|||||789|,G|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000487477|retained_intron||n.-1C>G|||||1799|,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding|6/14|c.587-46C>G||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding|6/14|c.587-46C>G||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000429226|protein_coding|6/6|c.586+407C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding|6/13|c.587-46C>G||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000430127|protein_coding|5/5|c.503-46C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000435427|nonsense_mediated_decay|2/3|n.*118-46C>G||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000484039|processed_transcript|4/7|n.390-46C>G||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000433143|protein_coding|2/8|c.172+39C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 29627567 . T C . . ANN=C|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|9/15|c.587-15T>C||||||,C|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|12/15|c.587-15T>C||||||,C|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|10/15|c.587-15T>C||||||,C|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|6/15|c.587-15T>C||||||,C|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|7/15|c.587-15T>C||||||,C|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|13/15|c.587-15T>C||||||,C|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|8/15|c.587-15T>C||||||,C|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|11/15|c.587-15T>C||||||,C|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000473933|retained_intron||n.-1T>C|||||104|,C|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron||n.-1T>C|||||758|,C|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000487477|retained_intron||n.-1T>C|||||1768|,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding|6/14|c.587-15T>C||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding|6/14|c.587-15T>C||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000429226|protein_coding|6/6|c.586+438T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding|6/13|c.587-15T>C||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000430127|protein_coding|5/5|c.503-15T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000435427|nonsense_mediated_decay|2/3|n.*118-15T>C||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000484039|processed_transcript|4/7|n.390-15T>C||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000433143|protein_coding|2/8|c.173-15T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 29627577 . C G . . ANN=G|splice_region_variant&intron_variant|LOW|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding|6/14|c.587-5C>G||||||,G|splice_region_variant&intron_variant|LOW|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding|6/14|c.587-5C>G||||||,G|splice_region_variant&intron_variant|LOW|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding|6/13|c.587-5C>G||||||,G|splice_region_variant&intron_variant|LOW|EMID1|ENSG00000186998|transcript|ENST00000430127|protein_coding|5/5|c.503-5C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|splice_region_variant&intron_variant|LOW|EMID1|ENSG00000186998|transcript|ENST00000435427|nonsense_mediated_decay|2/3|n.*118-5C>G||||||,G|splice_region_variant&intron_variant|LOW|EMID1|ENSG00000186998|transcript|ENST00000484039|processed_transcript|4/7|n.390-5C>G||||||,G|splice_region_variant&intron_variant|LOW|EMID1|ENSG00000186998|transcript|ENST00000433143|protein_coding|2/8|c.173-5C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|9/15|c.587-5C>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|12/15|c.587-5C>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|10/15|c.587-5C>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|6/15|c.587-5C>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|7/15|c.587-5C>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|13/15|c.587-5C>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|8/15|c.587-5C>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|11/15|c.587-5C>G||||||,G|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000473933|retained_intron||n.-1C>G|||||94|,G|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron||n.-1C>G|||||748|,G|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000487477|retained_intron||n.-1C>G|||||1758|,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000429226|protein_coding|6/6|c.586+448C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 29628228 . G A . . ANN=A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|9/15|c.677-17G>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|12/15|c.677-17G>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|10/15|c.677-17G>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|6/15|c.677-17G>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|7/15|c.677-17G>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|13/15|c.677-17G>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|8/15|c.677-17G>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|11/15|c.677-17G>A||||||,A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron||n.-1G>A|||||97|,A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000487477|retained_intron||n.-1G>A|||||1107|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000430127|protein_coding||c.*641G>A|||||624|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding|7/14|c.677-17G>A||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding|7/14|c.677-17G>A||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000429226|protein_coding|6/6|c.586+1099G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding|7/13|c.677-17G>A||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000435427|nonsense_mediated_decay|3/3|n.*208-17G>A||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000484039|processed_transcript|5/7|n.480-17G>A||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000433143|protein_coding|3/8|c.263-17G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000473933|retained_intron|1/2|n.558G>A|||||| 22 29628260 . C G . . ANN=G|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding|8/15|c.692C>G|p.Pro231Arg|819/2118|692/1338|231/445||,G|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding|8/15|c.692C>G|p.Pro231Arg|880/2173|692/1332|231/443||,G|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding|8/14|c.692C>G|p.Pro231Arg|819/2049|692/1269|231/422||,G|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000433143|protein_coding|4/9|c.278C>G|p.Pro93Arg|280/707|278/705|93/234||WARNING_TRANSCRIPT_NO_STOP_CODON,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|9/15|c.692C>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|12/15|c.692C>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|10/15|c.692C>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|6/15|c.692C>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|7/15|c.692C>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|13/15|c.692C>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|8/15|c.692C>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|11/15|c.692C>G||||||,G|3_prime_UTR_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000435427|nonsense_mediated_decay|4/4|n.*223C>G|||||1248|,G|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron||n.-1C>G|||||65|,G|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000487477|retained_intron||n.-1C>G|||||1075|,G|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000430127|protein_coding||c.*641C>G|||||656|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000429226|protein_coding|6/6|c.587-1108C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000435427|nonsense_mediated_decay|4/4|n.*223C>G||||||,G|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000484039|processed_transcript|6/8|n.495C>G||||||,G|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000473933|retained_intron|1/2|n.590C>G|||||| 22 29628283 . G C . . ANN=C|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding|8/15|c.715G>C|p.Ala239Pro|842/2118|715/1338|239/445||,C|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding|8/15|c.715G>C|p.Ala239Pro|903/2173|715/1332|239/443||,C|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding|8/14|c.715G>C|p.Ala239Pro|842/2049|715/1269|239/422||,C|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000433143|protein_coding|4/9|c.301G>C|p.Ala101Pro|303/707|301/705|101/234||WARNING_TRANSCRIPT_NO_STOP_CODON,C|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|9/15|c.715G>C||||||,C|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|12/15|c.715G>C||||||,C|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|10/15|c.715G>C||||||,C|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|6/15|c.715G>C||||||,C|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|7/15|c.715G>C||||||,C|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|13/15|c.715G>C||||||,C|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|8/15|c.715G>C||||||,C|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|11/15|c.715G>C||||||,C|3_prime_UTR_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000435427|nonsense_mediated_decay|4/4|n.*246G>C|||||1271|,C|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron||n.-1G>C|||||42|,C|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000487477|retained_intron||n.-1G>C|||||1052|,C|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000430127|protein_coding||c.*641G>C|||||679|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000429226|protein_coding|6/6|c.587-1085G>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000435427|nonsense_mediated_decay|4/4|n.*246G>C||||||,C|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000484039|processed_transcript|6/8|n.518G>C||||||,C|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000473933|retained_intron|1/2|n.613G>C|||||| 22 29628412 . A G . . ANN=G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|9/15|c.823+21A>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|12/15|c.823+21A>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|10/15|c.823+21A>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|6/15|c.823+21A>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|7/15|c.823+21A>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|13/15|c.823+21A>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|8/15|c.823+21A>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|11/15|c.823+21A>G||||||,G|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000487477|retained_intron||n.-1A>G|||||923|,G|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000430127|protein_coding||c.*641A>G|||||808|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000435427|nonsense_mediated_decay||n.*185A>G|||||78|,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding|8/14|c.823+21A>G||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding|8/14|c.823+21A>G||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000429226|protein_coding|6/6|c.587-956A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding|8/13|c.823+21A>G||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000484039|processed_transcript|6/7|n.626+21A>G||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000433143|protein_coding|4/8|c.409+21A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron|1/7|n.67+21A>G||||||,G|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000473933|retained_intron|1/2|n.742A>G|||||| 22 29629375 . A G . . ANN=G|synonymous_variant|LOW|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding|9/15|c.831A>G|p.Pro277Pro|958/2118|831/1338|277/445||,G|synonymous_variant|LOW|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding|9/15|c.831A>G|p.Pro277Pro|1019/2173|831/1332|277/443||,G|synonymous_variant|LOW|EMID1|ENSG00000186998|transcript|ENST00000429226|protein_coding|7/7|c.594A>G|p.Pro198Pro|727/769|594/636|198/211||WARNING_TRANSCRIPT_NO_STOP_CODON,G|synonymous_variant|LOW|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding|9/14|c.831A>G|p.Pro277Pro|958/2049|831/1269|277/422||,G|synonymous_variant|LOW|EMID1|ENSG00000186998|transcript|ENST00000433143|protein_coding|5/9|c.417A>G|p.Pro139Pro|419/707|417/705|139/234||WARNING_TRANSCRIPT_NO_STOP_CODON,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|9/15|c.831A>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|12/15|c.831A>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|10/15|c.831A>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|6/15|c.831A>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|7/15|c.831A>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|13/15|c.831A>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|8/15|c.831A>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|11/15|c.831A>G||||||,G|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000430127|protein_coding||c.*641A>G|||||1771|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000435427|nonsense_mediated_decay||n.*185A>G|||||1041|,G|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000484039|processed_transcript|7/8|n.634A>G||||||,G|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000473933|retained_intron|1/2|n.1705A>G||||||,G|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron|2/8|n.75A>G||||||,G|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000487477|retained_intron|1/6|n.41A>G|||||| 22 29629402 . C G . . ANN=G|synonymous_variant|LOW|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding|9/15|c.858C>G|p.Thr286Thr|985/2118|858/1338|286/445||,G|synonymous_variant|LOW|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding|9/15|c.858C>G|p.Thr286Thr|1046/2173|858/1332|286/443||,G|synonymous_variant|LOW|EMID1|ENSG00000186998|transcript|ENST00000429226|protein_coding|7/7|c.621C>G|p.Thr207Thr|754/769|621/636|207/211||WARNING_TRANSCRIPT_NO_STOP_CODON,G|synonymous_variant|LOW|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding|9/14|c.858C>G|p.Thr286Thr|985/2049|858/1269|286/422||,G|synonymous_variant|LOW|EMID1|ENSG00000186998|transcript|ENST00000433143|protein_coding|5/9|c.444C>G|p.Thr148Thr|446/707|444/705|148/234||WARNING_TRANSCRIPT_NO_STOP_CODON,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|9/15|c.858C>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|12/15|c.858C>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|10/15|c.858C>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|6/15|c.858C>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|7/15|c.858C>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|13/15|c.858C>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|8/15|c.858C>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|11/15|c.858C>G||||||,G|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000430127|protein_coding||c.*641C>G|||||1798|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000435427|nonsense_mediated_decay||n.*185C>G|||||1068|,G|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000484039|processed_transcript|7/8|n.661C>G||||||,G|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000473933|retained_intron|1/2|n.1732C>G||||||,G|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron|2/8|n.102C>G||||||,G|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000487477|retained_intron|1/6|n.68C>G|||||| 22 29629432 . G A . . ANN=A|synonymous_variant|LOW|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding|9/15|c.888G>A|p.Gly296Gly|1015/2118|888/1338|296/445||,A|synonymous_variant|LOW|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding|9/15|c.888G>A|p.Gly296Gly|1076/2173|888/1332|296/443||,A|synonymous_variant|LOW|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding|9/14|c.888G>A|p.Gly296Gly|1015/2049|888/1269|296/422||,A|synonymous_variant|LOW|EMID1|ENSG00000186998|transcript|ENST00000433143|protein_coding|5/9|c.474G>A|p.Gly158Gly|476/707|474/705|158/234||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|9/15|c.888G>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|12/15|c.888G>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|10/15|c.888G>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|6/15|c.888G>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|7/15|c.888G>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|13/15|c.888G>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|8/15|c.888G>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|11/15|c.888G>A||||||,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000429226|protein_coding||c.*769G>A|||||15|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000430127|protein_coding||c.*641G>A|||||1828|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000435427|nonsense_mediated_decay||n.*185G>A|||||1098|,A|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000484039|processed_transcript|7/8|n.691G>A||||||,A|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000473933|retained_intron|1/2|n.1762G>A||||||,A|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron|2/8|n.132G>A||||||,A|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000487477|retained_intron|1/6|n.98G>A|||||| 22 29629433 . C A . . ANN=A|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding|9/15|c.889C>A|p.Pro297Thr|1016/2118|889/1338|297/445||,A|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding|9/15|c.889C>A|p.Pro297Thr|1077/2173|889/1332|297/443||,A|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding|9/14|c.889C>A|p.Pro297Thr|1016/2049|889/1269|297/422||,A|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000433143|protein_coding|5/9|c.475C>A|p.Pro159Thr|477/707|475/705|159/234||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|9/15|c.889C>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|12/15|c.889C>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|10/15|c.889C>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|6/15|c.889C>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|7/15|c.889C>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|13/15|c.889C>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|8/15|c.889C>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|11/15|c.889C>A||||||,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000429226|protein_coding||c.*769C>A|||||16|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000430127|protein_coding||c.*641C>A|||||1829|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000435427|nonsense_mediated_decay||n.*185C>A|||||1099|,A|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000484039|processed_transcript|7/8|n.692C>A||||||,A|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000473933|retained_intron|1/2|n.1763C>A||||||,A|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron|2/8|n.133C>A||||||,A|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000487477|retained_intron|1/6|n.99C>A|||||| 22 29629573 . C T . . ANN=T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|9/15|c.914-30C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|12/15|c.914-30C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|10/15|c.914-30C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|6/15|c.914-30C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|7/15|c.914-30C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|13/15|c.914-30C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|8/15|c.914-30C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|11/15|c.914-30C>T||||||,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000429226|protein_coding||c.*769C>T|||||156|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000430127|protein_coding||c.*641C>T|||||1969|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000435427|nonsense_mediated_decay||n.*185C>T|||||1239|,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding|9/14|c.914-30C>T||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding|9/14|c.914-30C>T||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding|9/13|c.914-30C>T||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000484039|processed_transcript|7/7|n.717-30C>T||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000433143|protein_coding|5/8|c.500-30C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000473933|retained_intron|1/1|n.1788-30C>T||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron|2/7|n.158-30C>T||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000487477|retained_intron|1/5|n.124-30C>T|||||| 22 29629574 . G A . . ANN=A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|9/15|c.914-29G>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|12/15|c.914-29G>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|10/15|c.914-29G>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|6/15|c.914-29G>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|7/15|c.914-29G>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|13/15|c.914-29G>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|8/15|c.914-29G>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|11/15|c.914-29G>A||||||,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000429226|protein_coding||c.*769G>A|||||157|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000430127|protein_coding||c.*641G>A|||||1970|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000435427|nonsense_mediated_decay||n.*185G>A|||||1240|,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding|9/14|c.914-29G>A||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding|9/14|c.914-29G>A||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding|9/13|c.914-29G>A||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000484039|processed_transcript|7/7|n.717-29G>A||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000433143|protein_coding|5/8|c.500-29G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000473933|retained_intron|1/1|n.1788-29G>A||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron|2/7|n.158-29G>A||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000487477|retained_intron|1/5|n.124-29G>A|||||| 22 29629600 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding|9/14|c.914-3C>T||||||,T|splice_region_variant&intron_variant|LOW|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding|9/14|c.914-3C>T||||||,T|splice_region_variant&intron_variant|LOW|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding|9/13|c.914-3C>T||||||,T|splice_region_variant&intron_variant|LOW|EMID1|ENSG00000186998|transcript|ENST00000484039|processed_transcript|7/7|n.717-3C>T||||||,T|splice_region_variant&intron_variant|LOW|EMID1|ENSG00000186998|transcript|ENST00000433143|protein_coding|5/8|c.500-3C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|splice_region_variant&intron_variant|LOW|EMID1|ENSG00000186998|transcript|ENST00000473933|retained_intron|1/1|n.1788-3C>T||||||,T|splice_region_variant&intron_variant|LOW|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron|2/7|n.158-3C>T||||||,T|splice_region_variant&intron_variant|LOW|EMID1|ENSG00000186998|transcript|ENST00000487477|retained_intron|1/5|n.124-3C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|9/15|c.914-3C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|12/15|c.914-3C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|10/15|c.914-3C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|6/15|c.914-3C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|7/15|c.914-3C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|13/15|c.914-3C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|8/15|c.914-3C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|11/15|c.914-3C>T||||||,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000429226|protein_coding||c.*769C>T|||||183|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000430127|protein_coding||c.*641C>T|||||1996|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000435427|nonsense_mediated_decay||n.*185C>T|||||1266| 22 29629632 . G T . . ANN=T|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding|10/15|c.943G>T|p.Val315Phe|1070/2118|943/1338|315/445||,T|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding|10/15|c.943G>T|p.Val315Phe|1131/2173|943/1332|315/443||,T|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding|10/14|c.943G>T|p.Val315Phe|1070/2049|943/1269|315/422||,T|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000433143|protein_coding|6/9|c.529G>T|p.Val177Phe|531/707|529/705|177/234||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|9/15|c.943G>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|12/15|c.943G>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|10/15|c.943G>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|6/15|c.943G>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|7/15|c.943G>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|13/15|c.943G>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|8/15|c.943G>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|11/15|c.943G>T||||||,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000429226|protein_coding||c.*769G>T|||||215|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000430127|protein_coding||c.*641G>T|||||2028|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000435427|nonsense_mediated_decay||n.*185G>T|||||1298|,T|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000484039|processed_transcript|8/8|n.746G>T||||||,T|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000473933|retained_intron|2/2|n.1817G>T||||||,T|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron|3/8|n.187G>T||||||,T|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000487477|retained_intron|2/6|n.153G>T|||||| 22 29630098 . A G . . ANN=G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|9/15|c.967-28A>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|12/15|c.967-28A>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|10/15|c.967-28A>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|6/15|c.967-28A>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|7/15|c.967-28A>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|13/15|c.967-28A>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|8/15|c.967-28A>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|11/15|c.967-28A>G||||||,G|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000429226|protein_coding||c.*769A>G|||||681|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000430127|protein_coding||c.*641A>G|||||2494|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000435427|nonsense_mediated_decay||n.*185A>G|||||1764|,G|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000484039|processed_transcript||n.*770A>G|||||442|,G|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000473933|retained_intron||n.*2036A>G|||||247|,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding|10/14|c.967-28A>G||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding|10/14|c.967-28A>G||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding|10/13|c.967-196A>G||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000433143|protein_coding|6/8|c.553-28A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron|3/7|n.211-28A>G||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000487477|retained_intron|2/5|n.177-28A>G|||||| 22 29630187 . G C . . ANN=C|missense_variant&splice_region_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding|11/15|c.1028G>C|p.Arg343Thr|1155/2118|1028/1338|343/445||,C|missense_variant&splice_region_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding|11/15|c.1028G>C|p.Arg343Thr|1216/2173|1028/1332|343/443||,C|missense_variant&splice_region_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000433143|protein_coding|7/9|c.614G>C|p.Arg205Thr|616/707|614/705|205/234||WARNING_TRANSCRIPT_NO_STOP_CODON,C|splice_region_variant&non_coding_exon_variant|LOW|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron|4/8|n.272G>C||||||,C|splice_region_variant&non_coding_exon_variant|LOW|EMID1|ENSG00000186998|transcript|ENST00000487477|retained_intron|3/6|n.238G>C||||||,C|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|9/15|c.1028G>C||||||,C|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|12/15|c.1028G>C||||||,C|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|10/15|c.1028G>C||||||,C|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|6/15|c.1028G>C||||||,C|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|7/15|c.1028G>C||||||,C|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|13/15|c.1028G>C||||||,C|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|8/15|c.1028G>C||||||,C|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|11/15|c.1028G>C||||||,C|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000429226|protein_coding||c.*769G>C|||||770|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000430127|protein_coding||c.*641G>C|||||2583|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000435427|nonsense_mediated_decay||n.*185G>C|||||1853|,C|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000484039|processed_transcript||n.*770G>C|||||531|,C|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000473933|retained_intron||n.*2036G>C|||||336|,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding|10/13|c.967-107G>C|||||| 22 29630215 . G A . . ANN=A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|9/15|c.1029+27G>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|12/15|c.1029+27G>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|10/15|c.1029+27G>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|6/15|c.1029+27G>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|7/15|c.1029+27G>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|13/15|c.1029+27G>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|8/15|c.1029+27G>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|11/15|c.1029+27G>A||||||,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000429226|protein_coding||c.*769G>A|||||798|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000430127|protein_coding||c.*641G>A|||||2611|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000435427|nonsense_mediated_decay||n.*185G>A|||||1881|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000484039|processed_transcript||n.*770G>A|||||559|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000473933|retained_intron||n.*2036G>A|||||364|,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding|11/14|c.1029+27G>A||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding|11/14|c.1029+27G>A||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding|10/13|c.967-79G>A||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000433143|protein_coding|7/8|c.615+27G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron|4/7|n.273+27G>A||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000487477|retained_intron|3/5|n.239+27G>A|||||| 22 29630267 . G A . . ANN=A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|9/15|c.1030-27G>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|12/15|c.1030-27G>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|10/15|c.1030-27G>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|6/15|c.1030-27G>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|7/15|c.1030-27G>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|13/15|c.1030-27G>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|8/15|c.1030-27G>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|11/15|c.1030-27G>A||||||,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000429226|protein_coding||c.*769G>A|||||850|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000430127|protein_coding||c.*641G>A|||||2663|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000435427|nonsense_mediated_decay||n.*185G>A|||||1933|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000484039|processed_transcript||n.*770G>A|||||611|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000473933|retained_intron||n.*2036G>A|||||416|,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding|11/14|c.1030-27G>A||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding|11/14|c.1030-27G>A||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding|10/13|c.967-27G>A||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000433143|protein_coding|7/8|c.616-27G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron|4/7|n.274-27G>A||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000487477|retained_intron|3/5|n.240-27G>A|||||| 22 29630269 . C T . . ANN=T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|9/15|c.1030-25C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|12/15|c.1030-25C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|10/15|c.1030-25C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|6/15|c.1030-25C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|7/15|c.1030-25C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|13/15|c.1030-25C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|8/15|c.1030-25C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|11/15|c.1030-25C>T||||||,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000429226|protein_coding||c.*769C>T|||||852|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000430127|protein_coding||c.*641C>T|||||2665|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000435427|nonsense_mediated_decay||n.*185C>T|||||1935|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000484039|processed_transcript||n.*770C>T|||||613|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000473933|retained_intron||n.*2036C>T|||||418|,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding|11/14|c.1030-25C>T||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding|11/14|c.1030-25C>T||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding|10/13|c.967-25C>T||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000433143|protein_coding|7/8|c.616-25C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron|4/7|n.274-25C>T||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000487477|retained_intron|3/5|n.240-25C>T|||||| 22 29630275 . TCTC T . . ANN=|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|9/15|c.1030-18_1030-16delCTC||||||,|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|12/15|c.1030-18_1030-16delCTC||||||,|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|10/15|c.1030-18_1030-16delCTC||||||,|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|6/15|c.1030-18_1030-16delCTC||||||,|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|7/15|c.1030-18_1030-16delCTC||||||,|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|13/15|c.1030-18_1030-16delCTC||||||,|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|8/15|c.1030-18_1030-16delCTC||||||,|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|11/15|c.1030-18_1030-16delCTC||||||,|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000429226|protein_coding||c.*769_*769delCTC|||||859|WARNING_TRANSCRIPT_NO_STOP_CODON,|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000430127|protein_coding||c.*641_*641delCTC|||||2672|WARNING_TRANSCRIPT_NO_STOP_CODON,|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000435427|nonsense_mediated_decay||n.*185_*185delCTC|||||1942|,|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000484039|processed_transcript||n.*770_*770delCTC|||||620|,|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000473933|retained_intron||n.*2036_*2036delCTC|||||425|,|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding|11/14|c.1030-14_1030-12delTCC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding|11/14|c.1030-14_1030-12delTCC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding|10/13|c.967-14_967-12delTCC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000433143|protein_coding|7/8|c.616-14_616-12delTCC||||||WARNING_TRANSCRIPT_NO_STOP_CODON&INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron|4/7|n.274-14_274-12delTCC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000487477|retained_intron|3/5|n.240-14_240-12delTCC||||||INFO_REALIGN_3_PRIME 22 29630300 . C T . . ANN=T|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding|12/15|c.1036C>T|p.Arg346Cys|1163/2118|1036/1338|346/445||,T|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding|12/15|c.1036C>T|p.Arg346Cys|1224/2173|1036/1332|346/443||,T|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding|11/14|c.973C>T|p.Arg325Cys|1100/2049|973/1269|325/422||,T|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000433143|protein_coding|8/9|c.622C>T|p.Arg208Cys|624/707|622/705|208/234||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|9/15|c.1036C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|12/15|c.1036C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|10/15|c.1036C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|6/15|c.1036C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|7/15|c.1036C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|13/15|c.1036C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|8/15|c.1036C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|11/15|c.1036C>T||||||,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000429226|protein_coding||c.*769C>T|||||883|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000430127|protein_coding||c.*641C>T|||||2696|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000435427|nonsense_mediated_decay||n.*185C>T|||||1966|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000484039|processed_transcript||n.*770C>T|||||644|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000473933|retained_intron||n.*2036C>T|||||449|,T|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron|5/8|n.280C>T||||||,T|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000487477|retained_intron|4/6|n.246C>T|||||| 22 29630337 . G A . . ANN=A|missense_variant&splice_region_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding|12/15|c.1073G>A|p.Arg358Gln|1200/2118|1073/1338|358/445||,A|missense_variant&splice_region_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding|12/15|c.1073G>A|p.Arg358Gln|1261/2173|1073/1332|358/443||,A|missense_variant&splice_region_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding|11/14|c.1010G>A|p.Arg337Gln|1137/2049|1010/1269|337/422||,A|missense_variant&splice_region_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000433143|protein_coding|8/9|c.659G>A|p.Arg220Gln|661/707|659/705|220/234||WARNING_TRANSCRIPT_NO_STOP_CODON,A|splice_region_variant&non_coding_exon_variant|LOW|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron|5/8|n.317G>A||||||,A|splice_region_variant&non_coding_exon_variant|LOW|EMID1|ENSG00000186998|transcript|ENST00000487477|retained_intron|4/6|n.283G>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|9/15|c.1073G>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|12/15|c.1073G>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|10/15|c.1073G>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|6/15|c.1073G>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|7/15|c.1073G>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|13/15|c.1073G>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|8/15|c.1073G>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|11/15|c.1073G>A||||||,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000429226|protein_coding||c.*769G>A|||||920|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000430127|protein_coding||c.*641G>A|||||2733|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000435427|nonsense_mediated_decay||n.*185G>A|||||2003|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000484039|processed_transcript||n.*770G>A|||||681|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000473933|retained_intron||n.*2036G>A|||||486| 22 29630349 . C T . . ANN=T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|9/15|c.1074+11C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|12/15|c.1074+11C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|10/15|c.1074+11C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|6/15|c.1074+11C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|7/15|c.1074+11C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|13/15|c.1074+11C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|8/15|c.1074+11C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|11/15|c.1074+11C>T||||||,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000429226|protein_coding||c.*769C>T|||||932|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000430127|protein_coding||c.*641C>T|||||2745|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000435427|nonsense_mediated_decay||n.*185C>T|||||2015|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000484039|processed_transcript||n.*770C>T|||||693|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000473933|retained_intron||n.*2036C>T|||||498|,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding|12/14|c.1074+11C>T||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding|12/14|c.1074+11C>T||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding|11/13|c.1011+11C>T||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000433143|protein_coding|8/8|c.660+11C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron|5/7|n.318+11C>T||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000487477|retained_intron|4/5|n.284+11C>T|||||| 22 29630359 . C T . . ANN=T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|9/15|c.1074+21C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|12/15|c.1074+21C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|10/15|c.1074+21C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|6/15|c.1074+21C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|7/15|c.1074+21C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|13/15|c.1074+21C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|8/15|c.1074+21C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|11/15|c.1074+21C>T||||||,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000429226|protein_coding||c.*769C>T|||||942|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000430127|protein_coding||c.*641C>T|||||2755|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000435427|nonsense_mediated_decay||n.*185C>T|||||2025|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000484039|processed_transcript||n.*770C>T|||||703|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000473933|retained_intron||n.*2036C>T|||||508|,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding|12/14|c.1074+21C>T||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding|12/14|c.1074+21C>T||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding|11/13|c.1011+21C>T||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000433143|protein_coding|8/8|c.660+21C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron|5/7|n.318+21C>T||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000487477|retained_intron|4/5|n.284+21C>T|||||| 22 29639484 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding|13/14|c.1119+6C>T||||||,T|splice_region_variant&intron_variant|LOW|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding|13/14|c.1119+6C>T||||||,T|splice_region_variant&intron_variant|LOW|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding|12/13|c.1056+6C>T||||||,T|splice_region_variant&intron_variant|LOW|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron|6/7|n.363+6C>T||||||,T|splice_region_variant&intron_variant|LOW|EMID1|ENSG00000186998|transcript|ENST00000487477|retained_intron|5/5|n.329+6C>T||||||,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000433143|protein_coding||c.*707C>T|||||6|WARNING_TRANSCRIPT_NO_STOP_CODON 22 29650178 . T C . . ANN=C|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding|13/14|c.1120-1082T>C||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding|13/14|c.1120-14T>C||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding|12/13|c.1057-14T>C||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron|6/7|n.364-14T>C||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000487477|retained_intron|5/5|n.330-14T>C|||||| 22 29650296 . C T . . ANN=T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding|13/14|c.1120-964C>T||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding|14/14|c.1204+20C>T||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding|13/13|c.1141+20C>T||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron|7/7|n.448+20C>T||||||,T|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000487477|retained_intron|6/6|n.434C>T|||||| 22 29654770 . C T . . ANN=T|upstream_gene_variant|MODIFIER|CTA-984G1.5|ENSG00000237015|transcript|ENST00000433125|antisense||n.-1C>T|||||2108|,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000216085|protein_coding||c.*1586G>A|||||1071|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron||n.*790C>T|||||3169|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000487477|retained_intron||n.*932C>T|||||3976|,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay||n.*662G>A|||||1123|,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000496342|retained_intron||n.*849G>A|||||1718|,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000414672|protein_coding||c.*900G>A|||||2031|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding|14/14|c.1211-36C>T||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding|14/14|c.1205-36C>T||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding|13/13|c.1142-36C>T|||||| 22 29654833 . C T . . ANN=T|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding|15/15|c.1238C>T|p.Pro413Leu|1365/2118|1238/1338|413/445||,T|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding|15/15|c.1232C>T|p.Pro411Leu|1420/2173|1232/1332|411/443||,T|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding|14/14|c.1169C>T|p.Pro390Leu|1296/2049|1169/1269|390/422||,T|upstream_gene_variant|MODIFIER|CTA-984G1.5|ENSG00000237015|transcript|ENST00000433125|antisense||n.-1C>T|||||2045|,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000216085|protein_coding||c.*1586G>A|||||1008|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron||n.*790C>T|||||3232|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000487477|retained_intron||n.*932C>T|||||4039|,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay||n.*662G>A|||||1060|,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000496342|retained_intron||n.*849G>A|||||1655|,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000414672|protein_coding||c.*900G>A|||||1968|WARNING_TRANSCRIPT_NO_STOP_CODON 22 29654849 . C T . . ANN=T|synonymous_variant|LOW|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding|15/15|c.1254C>T|p.Thr418Thr|1381/2118|1254/1338|418/445||,T|synonymous_variant|LOW|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding|15/15|c.1248C>T|p.Thr416Thr|1436/2173|1248/1332|416/443||,T|synonymous_variant|LOW|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding|14/14|c.1185C>T|p.Thr395Thr|1312/2049|1185/1269|395/422||,T|upstream_gene_variant|MODIFIER|CTA-984G1.5|ENSG00000237015|transcript|ENST00000433125|antisense||n.-1C>T|||||2029|,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000216085|protein_coding||c.*1586G>A|||||992|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron||n.*790C>T|||||3248|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000487477|retained_intron||n.*932C>T|||||4055|,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay||n.*662G>A|||||1044|,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000496342|retained_intron||n.*849G>A|||||1639|,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000414672|protein_coding||c.*900G>A|||||1952|WARNING_TRANSCRIPT_NO_STOP_CODON 22 29654946 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding|15/15|c.*13C>T|||||13|,T|3_prime_UTR_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding|15/15|c.*13C>T|||||13|,T|3_prime_UTR_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding|14/14|c.*13C>T|||||13|,T|upstream_gene_variant|MODIFIER|CTA-984G1.5|ENSG00000237015|transcript|ENST00000433125|antisense||n.-1C>T|||||1932|,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000216085|protein_coding||c.*1586G>A|||||895|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron||n.*790C>T|||||3345|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000487477|retained_intron||n.*932C>T|||||4152|,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay||n.*662G>A|||||947|,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000496342|retained_intron||n.*849G>A|||||1542|,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000414672|protein_coding||c.*900G>A|||||1855|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000406335|protein_coding||c.*755G>A|||||5000|WARNING_TRANSCRIPT_INCOMPLETE 22 29656145 . G A . . ANN=A|synonymous_variant|LOW|RHBDD3|ENSG00000100263|transcript|ENST00000216085|protein_coding|7/7|c.1065C>T|p.Ala355Ala|1490/1794|1065/1161|355/386||,A|sequence_feature|LOW|RHBDD3|ENSG00000100263|domain:UBA|ENST00000216085|protein_coding|7/7|c.1065C>T||||||,A|sequence_feature|LOW|RHBDD3|ENSG00000100263|domain:UBA|ENST00000216085|protein_coding|6/7|c.1065C>T||||||,A|3_prime_UTR_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|7/7|n.*641C>T|||||1148|,A|upstream_gene_variant|MODIFIER|CTA-984G1.5|ENSG00000237015|transcript|ENST00000433125|antisense||n.-1G>A|||||733|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding||c.*1465G>A|||||559|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding||c.*1520G>A|||||559|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding||c.*1396G>A|||||559|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron||n.*790G>A|||||4544|,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000496342|retained_intron||n.*849C>T|||||343|,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000414672|protein_coding||c.*900C>T|||||656|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000406335|protein_coding||c.*755C>T|||||3801|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000493894|retained_intron||n.*999C>T|||||4879|,A|non_coding_exon_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|7/7|n.*641C>T|||||| 22 29656159 . G A . . ANN=A|missense_variant|MODERATE|RHBDD3|ENSG00000100263|transcript|ENST00000216085|protein_coding|7/7|c.1051C>T|p.Arg351Cys|1476/1794|1051/1161|351/386||,A|sequence_feature|LOW|RHBDD3|ENSG00000100263|domain:UBA|ENST00000216085|protein_coding|7/7|c.1051C>T||||||,A|sequence_feature|LOW|RHBDD3|ENSG00000100263|domain:UBA|ENST00000216085|protein_coding|6/7|c.1051C>T||||||,A|3_prime_UTR_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|7/7|n.*627C>T|||||1134|,A|upstream_gene_variant|MODIFIER|CTA-984G1.5|ENSG00000237015|transcript|ENST00000433125|antisense||n.-1G>A|||||719|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding||c.*1465G>A|||||573|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding||c.*1520G>A|||||573|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding||c.*1396G>A|||||573|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron||n.*790G>A|||||4558|,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000496342|retained_intron||n.*849C>T|||||329|,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000414672|protein_coding||c.*900C>T|||||642|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000406335|protein_coding||c.*755C>T|||||3787|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000493894|retained_intron||n.*999C>T|||||4865|,A|non_coding_exon_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|7/7|n.*627C>T|||||| 22 29656171 . C T . . ANN=T|missense_variant|MODERATE|RHBDD3|ENSG00000100263|transcript|ENST00000216085|protein_coding|7/7|c.1039G>A|p.Ala347Thr|1464/1794|1039/1161|347/386||,T|sequence_feature|LOW|RHBDD3|ENSG00000100263|domain:UBA|ENST00000216085|protein_coding|7/7|c.1039G>A||||||,T|sequence_feature|LOW|RHBDD3|ENSG00000100263|domain:UBA|ENST00000216085|protein_coding|6/7|c.1039G>A||||||,T|3_prime_UTR_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|7/7|n.*615G>A|||||1122|,T|upstream_gene_variant|MODIFIER|CTA-984G1.5|ENSG00000237015|transcript|ENST00000433125|antisense||n.-1C>T|||||707|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding||c.*1465C>T|||||585|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding||c.*1520C>T|||||585|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding||c.*1396C>T|||||585|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron||n.*790C>T|||||4570|,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000496342|retained_intron||n.*849G>A|||||317|,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000414672|protein_coding||c.*900G>A|||||630|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000406335|protein_coding||c.*755G>A|||||3775|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000493894|retained_intron||n.*999G>A|||||4853|,T|non_coding_exon_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|7/7|n.*615G>A|||||| 22 29656209 . C T . . ANN=T|missense_variant|MODERATE|RHBDD3|ENSG00000100263|transcript|ENST00000216085|protein_coding|7/7|c.1001G>A|p.Arg334His|1426/1794|1001/1161|334/386||,T|sequence_feature|LOW|RHBDD3|ENSG00000100263|domain:UBA|ENST00000216085|protein_coding|7/7|c.1001G>A||||||,T|sequence_feature|LOW|RHBDD3|ENSG00000100263|domain:UBA|ENST00000216085|protein_coding|6/7|c.1001G>A||||||,T|3_prime_UTR_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|7/7|n.*577G>A|||||1084|,T|upstream_gene_variant|MODIFIER|CTA-984G1.5|ENSG00000237015|transcript|ENST00000433125|antisense||n.-1C>T|||||669|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding||c.*1465C>T|||||623|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding||c.*1520C>T|||||623|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding||c.*1396C>T|||||623|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron||n.*790C>T|||||4608|,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000496342|retained_intron||n.*849G>A|||||279|,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000414672|protein_coding||c.*900G>A|||||592|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000406335|protein_coding||c.*755G>A|||||3737|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000493894|retained_intron||n.*999G>A|||||4815|,T|non_coding_exon_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|7/7|n.*577G>A|||||| 22 29656238 . G C . . ANN=C|sequence_feature|LOW|RHBDD3|ENSG00000100263|domain:UBA|ENST00000216085|protein_coding|7/7|c.984-12C>G||||||,C|sequence_feature|LOW|RHBDD3|ENSG00000100263|domain:UBA|ENST00000216085|protein_coding|6/7|c.984-12C>G||||||,C|upstream_gene_variant|MODIFIER|CTA-984G1.5|ENSG00000237015|transcript|ENST00000433125|antisense||n.-1G>C|||||640|,C|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding||c.*1465G>C|||||652|,C|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding||c.*1520G>C|||||652|,C|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding||c.*1396G>C|||||652|,C|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron||n.*790G>C|||||4637|,C|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000496342|retained_intron||n.*849C>G|||||250|,C|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000414672|protein_coding||c.*900C>G|||||563|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000406335|protein_coding||c.*755C>G|||||3708|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000493894|retained_intron||n.*999C>G|||||4786|,C|intron_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000216085|protein_coding|6/6|c.984-12C>G||||||,C|intron_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|6/6|n.*560-12C>G|||||| 22 29656240 . G A . . ANN=A|sequence_feature|LOW|RHBDD3|ENSG00000100263|domain:UBA|ENST00000216085|protein_coding|7/7|c.984-14C>T||||||,A|sequence_feature|LOW|RHBDD3|ENSG00000100263|domain:UBA|ENST00000216085|protein_coding|6/7|c.984-14C>T||||||,A|upstream_gene_variant|MODIFIER|CTA-984G1.5|ENSG00000237015|transcript|ENST00000433125|antisense||n.-1G>A|||||638|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding||c.*1465G>A|||||654|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding||c.*1520G>A|||||654|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding||c.*1396G>A|||||654|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron||n.*790G>A|||||4639|,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000496342|retained_intron||n.*849C>T|||||248|,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000414672|protein_coding||c.*900C>T|||||561|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000406335|protein_coding||c.*755C>T|||||3706|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000493894|retained_intron||n.*999C>T|||||4784|,A|intron_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000216085|protein_coding|6/6|c.984-14C>T||||||,A|intron_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|6/6|n.*560-14C>T|||||| 22 29656251 . G T . . ANN=T|sequence_feature|LOW|RHBDD3|ENSG00000100263|domain:UBA|ENST00000216085|protein_coding|7/7|c.984-25C>A||||||,T|sequence_feature|LOW|RHBDD3|ENSG00000100263|domain:UBA|ENST00000216085|protein_coding|6/7|c.984-25C>A||||||,T|upstream_gene_variant|MODIFIER|CTA-984G1.5|ENSG00000237015|transcript|ENST00000433125|antisense||n.-1G>T|||||627|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding||c.*1465G>T|||||665|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding||c.*1520G>T|||||665|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding||c.*1396G>T|||||665|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron||n.*790G>T|||||4650|,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000496342|retained_intron||n.*849C>A|||||237|,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000414672|protein_coding||c.*900C>A|||||550|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000406335|protein_coding||c.*755C>A|||||3695|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000493894|retained_intron||n.*999C>A|||||4773|,T|intron_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000216085|protein_coding|6/6|c.984-25C>A||||||,T|intron_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|6/6|n.*560-25C>A|||||| 22 29656253 . G A . . ANN=A|sequence_feature|LOW|RHBDD3|ENSG00000100263|domain:UBA|ENST00000216085|protein_coding|7/7|c.984-27C>T||||||,A|sequence_feature|LOW|RHBDD3|ENSG00000100263|domain:UBA|ENST00000216085|protein_coding|6/7|c.984-27C>T||||||,A|upstream_gene_variant|MODIFIER|CTA-984G1.5|ENSG00000237015|transcript|ENST00000433125|antisense||n.-1G>A|||||625|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding||c.*1465G>A|||||667|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding||c.*1520G>A|||||667|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding||c.*1396G>A|||||667|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron||n.*790G>A|||||4652|,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000496342|retained_intron||n.*849C>T|||||235|,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000414672|protein_coding||c.*900C>T|||||548|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000406335|protein_coding||c.*755C>T|||||3693|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000493894|retained_intron||n.*999C>T|||||4771|,A|intron_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000216085|protein_coding|6/6|c.984-27C>T||||||,A|intron_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|6/6|n.*560-27C>T|||||| 22 29656359 . G A . . ANN=A|synonymous_variant|LOW|RHBDD3|ENSG00000100263|transcript|ENST00000216085|protein_coding|6/7|c.939C>T|p.Pro313Pro|1364/1794|939/1161|313/386||,A|3_prime_UTR_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|6/7|n.*515C>T|||||934|,A|upstream_gene_variant|MODIFIER|CTA-984G1.5|ENSG00000237015|transcript|ENST00000433125|antisense||n.-1G>A|||||519|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding||c.*1465G>A|||||773|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding||c.*1520G>A|||||773|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding||c.*1396G>A|||||773|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron||n.*790G>A|||||4758|,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000496342|retained_intron||n.*849C>T|||||129|,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000414672|protein_coding||c.*900C>T|||||442|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000406335|protein_coding||c.*755C>T|||||3587|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000493894|retained_intron||n.*999C>T|||||4665|,A|non_coding_exon_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|6/7|n.*515C>T|||||| 22 29656389 . G T . . ANN=T|synonymous_variant|LOW|RHBDD3|ENSG00000100263|transcript|ENST00000216085|protein_coding|6/7|c.909C>A|p.Ala303Ala|1334/1794|909/1161|303/386||,T|3_prime_UTR_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|6/7|n.*485C>A|||||904|,T|upstream_gene_variant|MODIFIER|CTA-984G1.5|ENSG00000237015|transcript|ENST00000433125|antisense||n.-1G>T|||||489|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding||c.*1465G>T|||||803|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding||c.*1520G>T|||||803|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding||c.*1396G>T|||||803|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron||n.*790G>T|||||4788|,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000496342|retained_intron||n.*849C>A|||||99|,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000414672|protein_coding||c.*900C>A|||||412|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000406335|protein_coding||c.*755C>A|||||3557|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000493894|retained_intron||n.*999C>A|||||4635|,T|non_coding_exon_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|6/7|n.*485C>A|||||| 22 29656431 . C T . . ANN=T|stop_gained|HIGH|RHBDD3|ENSG00000100263|transcript|ENST00000216085|protein_coding|6/7|c.867G>A|p.Trp289*|1292/1794|867/1161|289/386||,T|3_prime_UTR_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|6/7|n.*443G>A|||||862|,T|upstream_gene_variant|MODIFIER|CTA-984G1.5|ENSG00000237015|transcript|ENST00000433125|antisense||n.-1C>T|||||447|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding||c.*1465C>T|||||845|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding||c.*1520C>T|||||845|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding||c.*1396C>T|||||845|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron||n.*790C>T|||||4830|,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000496342|retained_intron||n.*849G>A|||||57|,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000414672|protein_coding||c.*900G>A|||||370|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000406335|protein_coding||c.*755G>A|||||3515|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000493894|retained_intron||n.*999G>A|||||4593|,T|non_coding_exon_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|6/7|n.*443G>A||||||;LOF=(RHBDD3|ENSG00000100263|7|0.14);NMD=(RHBDD3|ENSG00000100263|7|0.14) 22 29656568 . G C . . ANN=C|missense_variant|MODERATE|RHBDD3|ENSG00000100263|transcript|ENST00000216085|protein_coding|6/7|c.730C>G|p.Pro244Ala|1155/1794|730/1161|244/386||,C|3_prime_UTR_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|6/7|n.*306C>G|||||725|,C|upstream_gene_variant|MODIFIER|CTA-984G1.5|ENSG00000237015|transcript|ENST00000433125|antisense||n.-1G>C|||||310|,C|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding||c.*1465G>C|||||982|,C|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding||c.*1520G>C|||||982|,C|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding||c.*1396G>C|||||982|,C|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron||n.*790G>C|||||4967|,C|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000414672|protein_coding||c.*900C>G|||||233|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000406335|protein_coding||c.*755C>G|||||3378|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000493894|retained_intron||n.*999C>G|||||4456|,C|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000488106|retained_intron||n.*640C>G|||||4867|,C|non_coding_exon_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|6/7|n.*306C>G||||||,C|non_coding_exon_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000496342|retained_intron|3/3|n.769C>G|||||| 22 29656608 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|RHBDD3|ENSG00000100263|transcript|ENST00000216085|protein_coding|5/6|c.696-6C>T||||||,A|splice_region_variant&intron_variant|LOW|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|5/6|n.*272-6C>T||||||,A|splice_region_variant&intron_variant|LOW|RHBDD3|ENSG00000100263|transcript|ENST00000496342|retained_intron|2/2|n.735-6C>T||||||,A|upstream_gene_variant|MODIFIER|CTA-984G1.5|ENSG00000237015|transcript|ENST00000433125|antisense||n.-1G>A|||||270|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding||c.*1465G>A|||||1022|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding||c.*1520G>A|||||1022|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding||c.*1396G>A|||||1022|,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000414672|protein_coding||c.*900C>T|||||193|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000406335|protein_coding||c.*755C>T|||||3338|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000493894|retained_intron||n.*999C>T|||||4416|,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000488106|retained_intron||n.*640C>T|||||4827| 22 29656697 . C A . . ANN=A|missense_variant|MODERATE|RHBDD3|ENSG00000100263|transcript|ENST00000216085|protein_coding|5/7|c.689G>T|p.Gly230Val|1114/1794|689/1161|230/386||,A|3_prime_UTR_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|5/7|n.*265G>T|||||596|,A|upstream_gene_variant|MODIFIER|CTA-984G1.5|ENSG00000237015|transcript|ENST00000433125|antisense||n.-1C>A|||||181|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding||c.*1465C>A|||||1111|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding||c.*1520C>A|||||1111|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding||c.*1396C>A|||||1111|,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000414672|protein_coding||c.*900G>T|||||104|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000406335|protein_coding||c.*755G>T|||||3249|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000493894|retained_intron||n.*999G>T|||||4327|,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000488106|retained_intron||n.*640G>T|||||4738|,A|non_coding_exon_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|5/7|n.*265G>T||||||,A|non_coding_exon_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000496342|retained_intron|2/3|n.728G>T|||||| 22 29656706 . T C . . ANN=C|missense_variant|MODERATE|RHBDD3|ENSG00000100263|transcript|ENST00000216085|protein_coding|5/7|c.680A>G|p.His227Arg|1105/1794|680/1161|227/386||,C|3_prime_UTR_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|5/7|n.*256A>G|||||587|,C|upstream_gene_variant|MODIFIER|CTA-984G1.5|ENSG00000237015|transcript|ENST00000433125|antisense||n.-1T>C|||||172|,C|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding||c.*1465T>C|||||1120|,C|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding||c.*1520T>C|||||1120|,C|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding||c.*1396T>C|||||1120|,C|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000414672|protein_coding||c.*900A>G|||||95|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000406335|protein_coding||c.*755A>G|||||3240|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000493894|retained_intron||n.*999A>G|||||4318|,C|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000488106|retained_intron||n.*640A>G|||||4729|,C|non_coding_exon_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|5/7|n.*256A>G||||||,C|non_coding_exon_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000496342|retained_intron|2/3|n.719A>G|||||| 22 29656842 . C A . . ANN=A|missense_variant|MODERATE|RHBDD3|ENSG00000100263|transcript|ENST00000216085|protein_coding|5/7|c.544G>T|p.Ala182Ser|969/1794|544/1161|182/386||,A|missense_variant|MODERATE|RHBDD3|ENSG00000100263|transcript|ENST00000414672|protein_coding|5/5|c.544G>T|p.Ala182Ser|859/900|544/585|182/194||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|RHBDD3|ENSG00000100263|transmembrane_region:Transmembrane_region|ENST00000216085|protein_coding|4/7|c.544G>T||||||,A|sequence_feature|LOW|RHBDD3|ENSG00000100263|transmembrane_region:Transmembrane_region|ENST00000216085|protein_coding|5/7|c.544G>T||||||,A|3_prime_UTR_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|5/7|n.*120G>T|||||451|,A|upstream_gene_variant|MODIFIER|CTA-984G1.5|ENSG00000237015|transcript|ENST00000433125|antisense||n.-1C>A|||||36|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding||c.*1465C>A|||||1256|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding||c.*1520C>A|||||1256|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding||c.*1396C>A|||||1256|,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000406335|protein_coding||c.*755G>T|||||3104|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000493894|retained_intron||n.*999G>T|||||4182|,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000488106|retained_intron||n.*640G>T|||||4593|,A|non_coding_exon_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|5/7|n.*120G>T||||||,A|non_coding_exon_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000496342|retained_intron|2/3|n.583G>T|||||| 22 29659797 . C T . . ANN=T|sequence_feature|LOW|RHBDD3|ENSG00000100263|transmembrane_region:Transmembrane_region|ENST00000216085|protein_coding|4/7|c.532+27G>A||||||,T|sequence_feature|LOW|RHBDD3|ENSG00000100263|transmembrane_region:Transmembrane_region|ENST00000216085|protein_coding|5/7|c.532+27G>A||||||,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding||c.-22C>T|||||4508|,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000444626|protein_coding||c.-329C>T|||||4201|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding||c.-329C>T|||||4201|,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding||c.-320C>T|||||4210|,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000436425|protein_coding||c.-85C>T|||||4445|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000447973|protein_coding||c.-85C>T|||||4445|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000485037|retained_intron||n.-1C>T|||||4465|,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding||c.-65C>T|||||4465|,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000437155|protein_coding||c.-56C>T|||||4474|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000415761|protein_coding||c.-48C>T|||||4482|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding||c.-47C>T|||||4483|,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483415|retained_intron||n.-1C>T|||||4505|,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000333395|protein_coding||c.-20C>T|||||4510|,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000455726|protein_coding||c.-12C>T|||||4518|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding||c.-12C>T|||||4518|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding||c.*1465C>T|||||4211|,T|downstream_gene_variant|MODIFIER|CTA-984G1.5|ENSG00000237015|transcript|ENST00000433125|antisense||n.*385C>T|||||1771|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding||c.*1520C>T|||||4211|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding||c.*1396C>T|||||4211|,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000406335|protein_coding||c.*755G>A|||||149|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000493894|retained_intron||n.*999G>A|||||1227|,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000488106|retained_intron||n.*640G>A|||||1638|,T|intron_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000216085|protein_coding|4/6|c.532+27G>A||||||,T|intron_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|3/6|n.148+1671G>A||||||,T|intron_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000496342|retained_intron|1/2|n.567+27G>A||||||,T|intron_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000414672|protein_coding|4/4|c.532+27G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 29659830 . G A . . ANN=A|synonymous_variant|LOW|RHBDD3|ENSG00000100263|transcript|ENST00000216085|protein_coding|4/7|c.526C>T|p.Leu176Leu|951/1794|526/1161|176/386||,A|synonymous_variant|LOW|RHBDD3|ENSG00000100263|transcript|ENST00000414672|protein_coding|4/5|c.526C>T|p.Leu176Leu|841/900|526/585|176/194||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|RHBDD3|ENSG00000100263|transmembrane_region:Transmembrane_region|ENST00000216085|protein_coding|4/7|c.526C>T||||||,A|sequence_feature|LOW|RHBDD3|ENSG00000100263|transmembrane_region:Transmembrane_region|ENST00000216085|protein_coding|5/7|c.526C>T||||||,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding||c.-22G>A|||||4475|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000444626|protein_coding||c.-329G>A|||||4168|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding||c.-329G>A|||||4168|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding||c.-320G>A|||||4177|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000436425|protein_coding||c.-85G>A|||||4412|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000447973|protein_coding||c.-85G>A|||||4412|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000485037|retained_intron||n.-1G>A|||||4432|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding||c.-65G>A|||||4432|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000437155|protein_coding||c.-56G>A|||||4441|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000415761|protein_coding||c.-48G>A|||||4449|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding||c.-47G>A|||||4450|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483415|retained_intron||n.-1G>A|||||4472|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000333395|protein_coding||c.-20G>A|||||4477|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000455726|protein_coding||c.-12G>A|||||4485|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding||c.-12G>A|||||4485|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding||c.*1465G>A|||||4244|,A|downstream_gene_variant|MODIFIER|CTA-984G1.5|ENSG00000237015|transcript|ENST00000433125|antisense||n.*385G>A|||||1804|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding||c.*1520G>A|||||4244|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding||c.*1396G>A|||||4244|,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000406335|protein_coding||c.*755C>T|||||116|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000493894|retained_intron||n.*999C>T|||||1194|,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000488106|retained_intron||n.*640C>T|||||1605|,A|intron_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|3/6|n.148+1638C>T||||||,A|non_coding_exon_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000496342|retained_intron|1/3|n.561C>T|||||| 22 29659845 . C T . . ANN=T|missense_variant|MODERATE|RHBDD3|ENSG00000100263|transcript|ENST00000216085|protein_coding|4/7|c.511G>A|p.Gly171Ser|936/1794|511/1161|171/386||,T|missense_variant|MODERATE|RHBDD3|ENSG00000100263|transcript|ENST00000414672|protein_coding|4/5|c.511G>A|p.Gly171Ser|826/900|511/585|171/194||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|RHBDD3|ENSG00000100263|transmembrane_region:Transmembrane_region|ENST00000216085|protein_coding|4/7|c.511G>A||||||,T|sequence_feature|LOW|RHBDD3|ENSG00000100263|transmembrane_region:Transmembrane_region|ENST00000216085|protein_coding|5/7|c.511G>A||||||,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding||c.-22C>T|||||4460|,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000444626|protein_coding||c.-329C>T|||||4153|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding||c.-329C>T|||||4153|,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding||c.-320C>T|||||4162|,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000436425|protein_coding||c.-85C>T|||||4397|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000447973|protein_coding||c.-85C>T|||||4397|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000485037|retained_intron||n.-1C>T|||||4417|,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding||c.-65C>T|||||4417|,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000437155|protein_coding||c.-56C>T|||||4426|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000415761|protein_coding||c.-48C>T|||||4434|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding||c.-47C>T|||||4435|,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483415|retained_intron||n.-1C>T|||||4457|,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000333395|protein_coding||c.-20C>T|||||4462|,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000455726|protein_coding||c.-12C>T|||||4470|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding||c.-12C>T|||||4470|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding||c.*1465C>T|||||4259|,T|downstream_gene_variant|MODIFIER|CTA-984G1.5|ENSG00000237015|transcript|ENST00000433125|antisense||n.*385C>T|||||1819|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding||c.*1520C>T|||||4259|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding||c.*1396C>T|||||4259|,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000406335|protein_coding||c.*755G>A|||||101|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000493894|retained_intron||n.*999G>A|||||1179|,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000488106|retained_intron||n.*640G>A|||||1590|,T|intron_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|3/6|n.148+1623G>A||||||,T|non_coding_exon_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000496342|retained_intron|1/3|n.546G>A|||||| 22 29659846 . G A . . ANN=A|synonymous_variant|LOW|RHBDD3|ENSG00000100263|transcript|ENST00000216085|protein_coding|4/7|c.510C>T|p.Cys170Cys|935/1794|510/1161|170/386||,A|synonymous_variant|LOW|RHBDD3|ENSG00000100263|transcript|ENST00000414672|protein_coding|4/5|c.510C>T|p.Cys170Cys|825/900|510/585|170/194||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|RHBDD3|ENSG00000100263|transmembrane_region:Transmembrane_region|ENST00000216085|protein_coding|4/7|c.510C>T||||||,A|sequence_feature|LOW|RHBDD3|ENSG00000100263|transmembrane_region:Transmembrane_region|ENST00000216085|protein_coding|5/7|c.510C>T||||||,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding||c.-22G>A|||||4459|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000444626|protein_coding||c.-329G>A|||||4152|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding||c.-329G>A|||||4152|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding||c.-320G>A|||||4161|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000436425|protein_coding||c.-85G>A|||||4396|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000447973|protein_coding||c.-85G>A|||||4396|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000485037|retained_intron||n.-1G>A|||||4416|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding||c.-65G>A|||||4416|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000437155|protein_coding||c.-56G>A|||||4425|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000415761|protein_coding||c.-48G>A|||||4433|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding||c.-47G>A|||||4434|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483415|retained_intron||n.-1G>A|||||4456|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000333395|protein_coding||c.-20G>A|||||4461|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000455726|protein_coding||c.-12G>A|||||4469|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding||c.-12G>A|||||4469|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding||c.*1465G>A|||||4260|,A|downstream_gene_variant|MODIFIER|CTA-984G1.5|ENSG00000237015|transcript|ENST00000433125|antisense||n.*385G>A|||||1820|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding||c.*1520G>A|||||4260|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding||c.*1396G>A|||||4260|,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000406335|protein_coding||c.*755C>T|||||100|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000493894|retained_intron||n.*999C>T|||||1178|,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000488106|retained_intron||n.*640C>T|||||1589|,A|intron_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|3/6|n.148+1622C>T||||||,A|non_coding_exon_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000496342|retained_intron|1/3|n.545C>T|||||| 22 29659878 . T G . . ANN=G|missense_variant|MODERATE|RHBDD3|ENSG00000100263|transcript|ENST00000216085|protein_coding|4/7|c.478A>C|p.Ser160Arg|903/1794|478/1161|160/386||,G|missense_variant|MODERATE|RHBDD3|ENSG00000100263|transcript|ENST00000414672|protein_coding|4/5|c.478A>C|p.Ser160Arg|793/900|478/585|160/194||WARNING_TRANSCRIPT_NO_STOP_CODON,G|sequence_feature|LOW|RHBDD3|ENSG00000100263|transmembrane_region:Transmembrane_region|ENST00000216085|protein_coding|4/7|c.478A>C||||||,G|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding||c.-22T>G|||||4427|,G|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000444626|protein_coding||c.-329T>G|||||4120|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding||c.-329T>G|||||4120|,G|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding||c.-320T>G|||||4129|,G|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000436425|protein_coding||c.-85T>G|||||4364|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000447973|protein_coding||c.-85T>G|||||4364|WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000485037|retained_intron||n.-1T>G|||||4384|,G|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding||c.-65T>G|||||4384|,G|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000437155|protein_coding||c.-56T>G|||||4393|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000415761|protein_coding||c.-48T>G|||||4401|WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding||c.-47T>G|||||4402|,G|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483415|retained_intron||n.-1T>G|||||4424|,G|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000333395|protein_coding||c.-20T>G|||||4429|,G|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000455726|protein_coding||c.-12T>G|||||4437|WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding||c.-12T>G|||||4437|,G|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding||c.*1465T>G|||||4292|,G|downstream_gene_variant|MODIFIER|CTA-984G1.5|ENSG00000237015|transcript|ENST00000433125|antisense||n.*385T>G|||||1852|,G|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding||c.*1520T>G|||||4292|,G|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding||c.*1396T>G|||||4292|,G|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000406335|protein_coding||c.*755A>C|||||68|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000493894|retained_intron||n.*999A>C|||||1146|,G|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000488106|retained_intron||n.*640A>C|||||1557|,G|intron_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|3/6|n.148+1590A>C||||||,G|non_coding_exon_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000496342|retained_intron|1/3|n.513A>C|||||| 22 29659951 . G A . . ANN=A|synonymous_variant|LOW|RHBDD3|ENSG00000100263|transcript|ENST00000216085|protein_coding|4/7|c.405C>T|p.Arg135Arg|830/1794|405/1161|135/386||,A|synonymous_variant|LOW|RHBDD3|ENSG00000100263|transcript|ENST00000414672|protein_coding|4/5|c.405C>T|p.Arg135Arg|720/900|405/585|135/194||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|RHBDD3|ENSG00000100263|transcript|ENST00000406335|protein_coding|3/3|c.405C>T|p.Arg135Arg|750/755|405/410|135/135||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding||c.-22G>A|||||4354|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000444626|protein_coding||c.-329G>A|||||4047|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding||c.-329G>A|||||4047|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding||c.-320G>A|||||4056|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000436425|protein_coding||c.-85G>A|||||4291|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000447973|protein_coding||c.-85G>A|||||4291|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000485037|retained_intron||n.-1G>A|||||4311|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding||c.-65G>A|||||4311|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000437155|protein_coding||c.-56G>A|||||4320|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000415761|protein_coding||c.-48G>A|||||4328|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding||c.-47G>A|||||4329|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483415|retained_intron||n.-1G>A|||||4351|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000333395|protein_coding||c.-20G>A|||||4356|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000455726|protein_coding||c.-12G>A|||||4364|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding||c.-12G>A|||||4364|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding||c.*1465G>A|||||4365|,A|downstream_gene_variant|MODIFIER|CTA-984G1.5|ENSG00000237015|transcript|ENST00000433125|antisense||n.*385G>A|||||1925|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding||c.*1520G>A|||||4365|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding||c.*1396G>A|||||4365|,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000493894|retained_intron||n.*999C>T|||||1073|,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000488106|retained_intron||n.*640C>T|||||1484|,A|intron_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|3/6|n.148+1517C>T||||||,A|non_coding_exon_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000496342|retained_intron|1/3|n.440C>T|||||| 22 29659953 . G A . . ANN=A|missense_variant|MODERATE|RHBDD3|ENSG00000100263|transcript|ENST00000216085|protein_coding|4/7|c.403C>T|p.Arg135Cys|828/1794|403/1161|135/386||,A|missense_variant|MODERATE|RHBDD3|ENSG00000100263|transcript|ENST00000414672|protein_coding|4/5|c.403C>T|p.Arg135Cys|718/900|403/585|135/194||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|RHBDD3|ENSG00000100263|transcript|ENST00000406335|protein_coding|3/3|c.403C>T|p.Arg135Cys|748/755|403/410|135/135||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding||c.-22G>A|||||4352|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000444626|protein_coding||c.-329G>A|||||4045|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding||c.-329G>A|||||4045|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding||c.-320G>A|||||4054|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000436425|protein_coding||c.-85G>A|||||4289|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000447973|protein_coding||c.-85G>A|||||4289|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000485037|retained_intron||n.-1G>A|||||4309|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding||c.-65G>A|||||4309|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000437155|protein_coding||c.-56G>A|||||4318|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000415761|protein_coding||c.-48G>A|||||4326|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding||c.-47G>A|||||4327|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483415|retained_intron||n.-1G>A|||||4349|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000333395|protein_coding||c.-20G>A|||||4354|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000455726|protein_coding||c.-12G>A|||||4362|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding||c.-12G>A|||||4362|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding||c.*1465G>A|||||4367|,A|downstream_gene_variant|MODIFIER|CTA-984G1.5|ENSG00000237015|transcript|ENST00000433125|antisense||n.*385G>A|||||1927|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding||c.*1520G>A|||||4367|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding||c.*1396G>A|||||4367|,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000493894|retained_intron||n.*999C>T|||||1071|,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000488106|retained_intron||n.*640C>T|||||1482|,A|intron_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|3/6|n.148+1515C>T||||||,A|non_coding_exon_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000496342|retained_intron|1/3|n.438C>T|||||| 22 29659960 . C T . . ANN=T|synonymous_variant|LOW|RHBDD3|ENSG00000100263|transcript|ENST00000216085|protein_coding|4/7|c.396G>A|p.Glu132Glu|821/1794|396/1161|132/386||,T|synonymous_variant|LOW|RHBDD3|ENSG00000100263|transcript|ENST00000414672|protein_coding|4/5|c.396G>A|p.Glu132Glu|711/900|396/585|132/194||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|RHBDD3|ENSG00000100263|transcript|ENST00000406335|protein_coding|3/3|c.396G>A|p.Glu132Glu|741/755|396/410|132/135||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding||c.-22C>T|||||4345|,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000444626|protein_coding||c.-329C>T|||||4038|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding||c.-329C>T|||||4038|,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding||c.-320C>T|||||4047|,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000436425|protein_coding||c.-85C>T|||||4282|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000447973|protein_coding||c.-85C>T|||||4282|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000485037|retained_intron||n.-1C>T|||||4302|,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding||c.-65C>T|||||4302|,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000437155|protein_coding||c.-56C>T|||||4311|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000415761|protein_coding||c.-48C>T|||||4319|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding||c.-47C>T|||||4320|,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483415|retained_intron||n.-1C>T|||||4342|,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000333395|protein_coding||c.-20C>T|||||4347|,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000455726|protein_coding||c.-12C>T|||||4355|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding||c.-12C>T|||||4355|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding||c.*1465C>T|||||4374|,T|downstream_gene_variant|MODIFIER|CTA-984G1.5|ENSG00000237015|transcript|ENST00000433125|antisense||n.*385C>T|||||1934|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding||c.*1520C>T|||||4374|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding||c.*1396C>T|||||4374|,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000493894|retained_intron||n.*999G>A|||||1064|,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000488106|retained_intron||n.*640G>A|||||1475|,T|intron_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|3/6|n.148+1508G>A||||||,T|non_coding_exon_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000496342|retained_intron|1/3|n.431G>A|||||| 22 29659996 . T C . . ANN=C|synonymous_variant|LOW|RHBDD3|ENSG00000100263|transcript|ENST00000216085|protein_coding|4/7|c.360A>G|p.Gly120Gly|785/1794|360/1161|120/386||,C|synonymous_variant|LOW|RHBDD3|ENSG00000100263|transcript|ENST00000414672|protein_coding|4/5|c.360A>G|p.Gly120Gly|675/900|360/585|120/194||WARNING_TRANSCRIPT_NO_STOP_CODON,C|synonymous_variant|LOW|RHBDD3|ENSG00000100263|transcript|ENST00000406335|protein_coding|3/3|c.360A>G|p.Gly120Gly|705/755|360/410|120/135||WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding||c.-22T>C|||||4309|,C|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000444626|protein_coding||c.-329T>C|||||4002|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding||c.-329T>C|||||4002|,C|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding||c.-320T>C|||||4011|,C|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000436425|protein_coding||c.-85T>C|||||4246|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000447973|protein_coding||c.-85T>C|||||4246|WARNING_TRANSCRIPT_NO_STOP_CODON,C|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000485037|retained_intron||n.-1T>C|||||4266|,C|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding||c.-65T>C|||||4266|,C|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000437155|protein_coding||c.-56T>C|||||4275|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000415761|protein_coding||c.-48T>C|||||4283|WARNING_TRANSCRIPT_NO_STOP_CODON,C|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding||c.-47T>C|||||4284|,C|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483415|retained_intron||n.-1T>C|||||4306|,C|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000333395|protein_coding||c.-20T>C|||||4311|,C|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000455726|protein_coding||c.-12T>C|||||4319|WARNING_TRANSCRIPT_NO_STOP_CODON,C|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding||c.-12T>C|||||4319|,C|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding||c.*1465T>C|||||4410|,C|downstream_gene_variant|MODIFIER|CTA-984G1.5|ENSG00000237015|transcript|ENST00000433125|antisense||n.*385T>C|||||1970|,C|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding||c.*1520T>C|||||4410|,C|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding||c.*1396T>C|||||4410|,C|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000493894|retained_intron||n.*999A>G|||||1028|,C|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000488106|retained_intron||n.*640A>G|||||1439|,C|intron_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|3/6|n.148+1472A>G||||||,C|non_coding_exon_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000496342|retained_intron|1/3|n.395A>G|||||| 22 29660099 . G A . . ANN=A|missense_variant|MODERATE|RHBDD3|ENSG00000100263|transcript|ENST00000216085|protein_coding|4/7|c.257C>T|p.Thr86Met|682/1794|257/1161|86/386||,A|missense_variant|MODERATE|RHBDD3|ENSG00000100263|transcript|ENST00000414672|protein_coding|4/5|c.257C>T|p.Thr86Met|572/900|257/585|86/194||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|RHBDD3|ENSG00000100263|transcript|ENST00000406335|protein_coding|3/3|c.257C>T|p.Thr86Met|602/755|257/410|86/135||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding||c.-22G>A|||||4206|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000444626|protein_coding||c.-329G>A|||||3899|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding||c.-329G>A|||||3899|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding||c.-320G>A|||||3908|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000436425|protein_coding||c.-85G>A|||||4143|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000447973|protein_coding||c.-85G>A|||||4143|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000485037|retained_intron||n.-1G>A|||||4163|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding||c.-65G>A|||||4163|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000437155|protein_coding||c.-56G>A|||||4172|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000415761|protein_coding||c.-48G>A|||||4180|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding||c.-47G>A|||||4181|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483415|retained_intron||n.-1G>A|||||4203|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000333395|protein_coding||c.-20G>A|||||4208|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000455726|protein_coding||c.-12G>A|||||4216|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding||c.-12G>A|||||4216|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding||c.*1465G>A|||||4513|,A|downstream_gene_variant|MODIFIER|CTA-984G1.5|ENSG00000237015|transcript|ENST00000433125|antisense||n.*385G>A|||||2073|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding||c.*1520G>A|||||4513|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding||c.*1396G>A|||||4513|,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000493894|retained_intron||n.*999C>T|||||925|,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000488106|retained_intron||n.*640C>T|||||1336|,A|intron_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|3/6|n.148+1369C>T||||||,A|non_coding_exon_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000496342|retained_intron|1/3|n.292C>T|||||| 22 29661507 . G A . . ANN=A|synonymous_variant|LOW|RHBDD3|ENSG00000100263|transcript|ENST00000216085|protein_coding|3/7|c.109C>T|p.Leu37Leu|534/1794|109/1161|37/386||,A|synonymous_variant|LOW|RHBDD3|ENSG00000100263|transcript|ENST00000414672|protein_coding|3/5|c.109C>T|p.Leu37Leu|424/900|109/585|37/194||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|RHBDD3|ENSG00000100263|transcript|ENST00000406335|protein_coding|2/3|c.109C>T|p.Leu37Leu|454/755|109/410|37/135||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|RHBDD3|ENSG00000100263|transmembrane_region:Transmembrane_region|ENST00000216085|protein_coding|3/7|c.109C>T||||||,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding||c.-22G>A|||||2798|,A|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000496342|retained_intron||n.-1C>T|||||1117|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000444626|protein_coding||c.-329G>A|||||2491|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding||c.-329G>A|||||2491|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding||c.-320G>A|||||2500|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000436425|protein_coding||c.-85G>A|||||2735|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000447973|protein_coding||c.-85G>A|||||2735|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000485037|retained_intron||n.-1G>A|||||2755|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding||c.-65G>A|||||2755|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000437155|protein_coding||c.-56G>A|||||2764|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000415761|protein_coding||c.-48G>A|||||2772|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding||c.-47G>A|||||2773|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483415|retained_intron||n.-1G>A|||||2795|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000333395|protein_coding||c.-20G>A|||||2800|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000455726|protein_coding||c.-12G>A|||||2808|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding||c.-12G>A|||||2808|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000493426|retained_intron||n.-1G>A|||||3705|,A|downstream_gene_variant|MODIFIER|CTA-984G1.5|ENSG00000237015|transcript|ENST00000433125|antisense||n.*385G>A|||||3481|,A|non_coding_exon_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|3/7|n.109C>T||||||,A|non_coding_exon_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000493894|retained_intron|3/3|n.516C>T||||||,A|non_coding_exon_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000488106|retained_intron|3/3|n.568C>T|||||| 22 29661652 . T C . . ANN=C|5_prime_UTR_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000216085|protein_coding|3/7|c.-37A>G|||||37|,C|5_prime_UTR_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|3/7|n.-37A>G|||||37|,C|5_prime_UTR_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000414672|protein_coding|3/5|c.-37A>G|||||37|WARNING_TRANSCRIPT_NO_STOP_CODON,C|5_prime_UTR_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000406335|protein_coding|2/3|c.-37A>G|||||37|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding||c.-22T>C|||||2653|,C|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000496342|retained_intron||n.-1A>G|||||1262|,C|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000444626|protein_coding||c.-329T>C|||||2346|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding||c.-329T>C|||||2346|,C|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding||c.-320T>C|||||2355|,C|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000436425|protein_coding||c.-85T>C|||||2590|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000447973|protein_coding||c.-85T>C|||||2590|WARNING_TRANSCRIPT_NO_STOP_CODON,C|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000485037|retained_intron||n.-1T>C|||||2610|,C|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding||c.-65T>C|||||2610|,C|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000437155|protein_coding||c.-56T>C|||||2619|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000415761|protein_coding||c.-48T>C|||||2627|WARNING_TRANSCRIPT_NO_STOP_CODON,C|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding||c.-47T>C|||||2628|,C|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483415|retained_intron||n.-1T>C|||||2650|,C|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000333395|protein_coding||c.-20T>C|||||2655|,C|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000455726|protein_coding||c.-12T>C|||||2663|WARNING_TRANSCRIPT_NO_STOP_CODON,C|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding||c.-12T>C|||||2663|,C|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000493426|retained_intron||n.-1T>C|||||3560|,C|downstream_gene_variant|MODIFIER|CTA-984G1.5|ENSG00000237015|transcript|ENST00000433125|antisense||n.*385T>C|||||3626|,C|non_coding_exon_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|3/7|n.-37A>G||||||,C|non_coding_exon_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000493894|retained_intron|3/3|n.371A>G||||||,C|non_coding_exon_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000488106|retained_intron|3/3|n.423A>G|||||| 22 29664301 . A G . . ANN=G|5_prime_UTR_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000444626|protein_coding|1/5|c.-25A>G|||||25|WARNING_TRANSCRIPT_INCOMPLETE,G|5_prime_UTR_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding|1/15|c.-25A>G|||||25|,G|5_prime_UTR_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding|1/17|c.-25A>G|||||25|,G|5_prime_UTR_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000436425|protein_coding|1/7|c.-25A>G|||||25|WARNING_TRANSCRIPT_INCOMPLETE,G|5_prime_UTR_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000447973|protein_coding|1/7|c.-25A>G|||||25|WARNING_TRANSCRIPT_NO_STOP_CODON,G|5_prime_UTR_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding|1/17|c.-25A>G|||||25|,G|5_prime_UTR_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000437155|protein_coding|1/8|c.-25A>G|||||25|WARNING_TRANSCRIPT_INCOMPLETE,G|5_prime_UTR_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000415761|protein_coding|1/6|c.-25A>G|||||25|WARNING_TRANSCRIPT_NO_STOP_CODON,G|5_prime_UTR_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding|1/15|c.-25A>G|||||25|,G|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000216085|protein_coding||c.-426T>C|||||334|,G|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding||c.-22A>G|||||4|,G|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay||n.-393T>C|||||367|,G|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000496342|retained_intron||n.-1T>C|||||3911|,G|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000414672|protein_coding||c.-316T>C|||||103|WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000406335|protein_coding||c.-346T>C|||||584|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000493894|retained_intron||n.-1T>C|||||352|,G|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000488106|retained_intron||n.-1T>C|||||391|,G|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483415|retained_intron||n.-1A>G|||||1|,G|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000333395|protein_coding||c.-20A>G|||||6|,G|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000455726|protein_coding||c.-12A>G|||||14|WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding||c.-12A>G|||||14|,G|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000493426|retained_intron||n.-1A>G|||||911|,G|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000485037|retained_intron|1/5|n.40A>G|||||| 22 29664307 . C G . . ANN=G|5_prime_UTR_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding|1/18|c.-19C>G|||||19|,G|5_prime_UTR_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000444626|protein_coding|1/5|c.-19C>G|||||19|WARNING_TRANSCRIPT_INCOMPLETE,G|5_prime_UTR_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding|1/15|c.-19C>G|||||19|,G|5_prime_UTR_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding|1/17|c.-19C>G|||||19|,G|5_prime_UTR_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000436425|protein_coding|1/7|c.-19C>G|||||19|WARNING_TRANSCRIPT_INCOMPLETE,G|5_prime_UTR_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000447973|protein_coding|1/7|c.-19C>G|||||19|WARNING_TRANSCRIPT_NO_STOP_CODON,G|5_prime_UTR_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding|1/17|c.-19C>G|||||19|,G|5_prime_UTR_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000437155|protein_coding|1/8|c.-19C>G|||||19|WARNING_TRANSCRIPT_INCOMPLETE,G|5_prime_UTR_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000415761|protein_coding|1/6|c.-19C>G|||||19|WARNING_TRANSCRIPT_NO_STOP_CODON,G|5_prime_UTR_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding|1/15|c.-19C>G|||||19|,G|5_prime_UTR_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000333395|protein_coding|1/9|c.-19C>G|||||19|,G|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000216085|protein_coding||c.-426G>C|||||340|,G|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay||n.-393G>C|||||373|,G|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000496342|retained_intron||n.-1G>C|||||3917|,G|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000414672|protein_coding||c.-316G>C|||||109|WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000406335|protein_coding||c.-346G>C|||||590|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000493894|retained_intron||n.-1G>C|||||358|,G|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000488106|retained_intron||n.-1G>C|||||397|,G|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000455726|protein_coding||c.-12C>G|||||8|WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding||c.-12C>G|||||8|,G|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000493426|retained_intron||n.-1C>G|||||905|,G|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000485037|retained_intron|1/5|n.46C>G||||||,G|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483415|retained_intron|1/8|n.6C>G|||||| 22 29664323 . A G . . ANN=G|5_prime_UTR_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding|1/18|c.-3A>G|||||3|,G|5_prime_UTR_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000444626|protein_coding|1/5|c.-3A>G|||||3|WARNING_TRANSCRIPT_INCOMPLETE,G|5_prime_UTR_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding|1/15|c.-3A>G|||||3|,G|5_prime_UTR_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding|1/17|c.-3A>G|||||3|,G|5_prime_UTR_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000436425|protein_coding|1/7|c.-3A>G|||||3|WARNING_TRANSCRIPT_INCOMPLETE,G|5_prime_UTR_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000447973|protein_coding|1/7|c.-3A>G|||||3|WARNING_TRANSCRIPT_NO_STOP_CODON,G|5_prime_UTR_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding|1/17|c.-3A>G|||||3|,G|5_prime_UTR_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000437155|protein_coding|1/8|c.-3A>G|||||3|WARNING_TRANSCRIPT_INCOMPLETE,G|5_prime_UTR_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000415761|protein_coding|1/6|c.-3A>G|||||3|WARNING_TRANSCRIPT_NO_STOP_CODON,G|5_prime_UTR_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding|1/15|c.-3A>G|||||3|,G|5_prime_UTR_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000333395|protein_coding|1/9|c.-3A>G|||||3|,G|5_prime_UTR_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000455726|protein_coding|1/7|c.-3A>G|||||3|WARNING_TRANSCRIPT_NO_STOP_CODON,G|5_prime_UTR_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding|1/16|c.-3A>G|||||3|,G|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000216085|protein_coding||c.-426T>C|||||356|,G|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay||n.-393T>C|||||389|,G|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000496342|retained_intron||n.-1T>C|||||3933|,G|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000414672|protein_coding||c.-316T>C|||||125|WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000406335|protein_coding||c.-346T>C|||||606|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000493894|retained_intron||n.-1T>C|||||374|,G|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000488106|retained_intron||n.-1T>C|||||413|,G|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000493426|retained_intron||n.-1A>G|||||889|,G|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000485037|retained_intron|1/5|n.62A>G||||||,G|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483415|retained_intron|1/8|n.22A>G|||||| 22 29668189 . C T . . ANN=T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|4/17|c.14-16C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|8/17|c.14-16C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|3/17|c.14-16C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|7/17|c.14-16C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|2/17|c.14-16C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|5/17|c.14-16C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|6/17|c.14-16C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|1/17|c.14-16C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|4/17|c.14-16C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|8/17|c.14-16C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|3/17|c.14-16C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|7/17|c.14-16C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|1/17|c.14-16C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|2/17|c.14-16C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|5/17|c.14-16C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|6/17|c.14-16C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|7/9|c.14-16C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|4/9|c.14-16C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|2/9|c.14-16C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|8/9|c.14-16C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|5/9|c.14-16C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|3/9|c.14-16C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|6/9|c.14-16C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|1/9|c.14-16C>T||||||,T|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000216085|protein_coding||c.-426G>A|||||4222|,T|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay||n.-393G>A|||||4255|,T|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000414672|protein_coding||c.-316G>A|||||3991|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000406335|protein_coding||c.-346G>A|||||4472|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000493894|retained_intron||n.-1G>A|||||4240|,T|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000488106|retained_intron||n.-1G>A|||||4279|,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000479135|retained_intron||n.-1C>T|||||3429|,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding|1/17|c.14-16C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000444626|protein_coding|1/4|c.14-16C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding|1/14|c.14-16C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding|1/16|c.14-16C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000436425|protein_coding|1/6|c.14-16C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000447973|protein_coding|1/6|c.14-16C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000485037|retained_intron|1/4|n.78-16C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding|1/16|c.14-16C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000437155|protein_coding|1/7|c.14-16C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000415761|protein_coding|1/5|c.14-16C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding|1/14|c.14-16C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483415|retained_intron|1/7|n.38-16C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000333395|protein_coding|1/8|c.14-16C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000455726|protein_coding|1/6|c.14-16C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding|1/15|c.14-16C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000493426|retained_intron|1/3|n.441-16C>T|||||| 22 29668199 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding|1/17|c.14-6C>T||||||,T|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000444626|protein_coding|1/4|c.14-6C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding|1/14|c.14-6C>T||||||,T|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding|1/16|c.14-6C>T||||||,T|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000436425|protein_coding|1/6|c.14-6C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000447973|protein_coding|1/6|c.14-6C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000485037|retained_intron|1/4|n.78-6C>T||||||,T|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding|1/16|c.14-6C>T||||||,T|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000437155|protein_coding|1/7|c.14-6C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000415761|protein_coding|1/5|c.14-6C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding|1/14|c.14-6C>T||||||,T|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000483415|retained_intron|1/7|n.38-6C>T||||||,T|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000333395|protein_coding|1/8|c.14-6C>T||||||,T|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000455726|protein_coding|1/6|c.14-6C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding|1/15|c.14-6C>T||||||,T|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000493426|retained_intron|1/3|n.441-6C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|4/17|c.14-6C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|8/17|c.14-6C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|3/17|c.14-6C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|7/17|c.14-6C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|2/17|c.14-6C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|5/17|c.14-6C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|6/17|c.14-6C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|1/17|c.14-6C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|4/17|c.14-6C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|8/17|c.14-6C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|3/17|c.14-6C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|7/17|c.14-6C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|1/17|c.14-6C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|2/17|c.14-6C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|5/17|c.14-6C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|6/17|c.14-6C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|7/9|c.14-6C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|4/9|c.14-6C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|2/9|c.14-6C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|8/9|c.14-6C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|5/9|c.14-6C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|3/9|c.14-6C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|6/9|c.14-6C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|1/9|c.14-6C>T||||||,T|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000216085|protein_coding||c.-426G>A|||||4232|,T|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay||n.-393G>A|||||4265|,T|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000414672|protein_coding||c.-316G>A|||||4001|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000406335|protein_coding||c.-346G>A|||||4482|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000493894|retained_intron||n.-1G>A|||||4250|,T|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000488106|retained_intron||n.-1G>A|||||4289|,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000479135|retained_intron||n.-1C>T|||||3419| 22 29668215 . C T . . ANN=T|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding|2/18|c.24C>T|p.Thr8Thr|45/2189|24/1986|8/661||,T|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000444626|protein_coding|2/5|c.24C>T|p.Thr8Thr|352/560|24/232|8/76||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding|2/15|c.24C>T|p.Thr8Thr|352/2443|24/1752|8/583||,T|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding|2/17|c.24C>T|p.Thr8Thr|343/2654|24/1971|8/656||,T|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000436425|protein_coding|2/7|c.24C>T|p.Thr8Thr|108/553|24/469|8/155||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000447973|protein_coding|2/7|c.24C>T|p.Thr8Thr|108/582|24/498|8/165||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding|2/17|c.24C>T|p.Thr8Thr|88/2207|24/1968|8/655||,T|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000437155|protein_coding|2/8|c.24C>T|p.Thr8Thr|79/933|24/878|8/291||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000415761|protein_coding|2/6|c.24C>T|p.Thr8Thr|71/587|24/540|8/179||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding|2/15|c.24C>T|p.Thr8Thr|70/2267|24/1857|8/618||,T|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000333395|protein_coding|2/9|c.24C>T|p.Thr8Thr|43/1265|24/1065|8/354||,T|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000455726|protein_coding|2/7|c.24C>T|p.Thr8Thr|35/710|24/699|8/232||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding|2/16|c.24C>T|p.Thr8Thr|35/1989|24/1803|8/600||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|repeat:1|ENST00000414183|protein_coding|2/18|c.24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|4/17|c.24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|8/17|c.24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|3/17|c.24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|7/17|c.24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|2/17|c.24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|5/17|c.24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|6/17|c.24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|1/17|c.24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|repeat:1|ENST00000397938|protein_coding|2/17|c.24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|4/17|c.24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|8/17|c.24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|3/17|c.24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|7/17|c.24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|2/17|c.24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|5/17|c.24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|6/17|c.24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|4/17|c.24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|8/17|c.24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|3/17|c.24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|7/17|c.24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|1/17|c.24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|2/17|c.24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|5/17|c.24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|6/17|c.24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|repeat:1|ENST00000406548|protein_coding|2/17|c.24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|4/17|c.24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|8/17|c.24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|3/17|c.24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|7/17|c.24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|2/17|c.24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|5/17|c.24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|6/17|c.24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|7/9|c.24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|4/9|c.24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|2/9|c.24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|8/9|c.24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|5/9|c.24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|3/9|c.24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|6/9|c.24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|1/9|c.24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|repeat:1|ENST00000333395|protein_coding|2/9|c.24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|7/9|c.24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|4/9|c.24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|2/9|c.24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|8/9|c.24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|5/9|c.24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|3/9|c.24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|6/9|c.24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|repeat:1|ENST00000332035|protein_coding|2/16|c.24C>T||||||,T|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000216085|protein_coding||c.-426G>A|||||4248|,T|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay||n.-393G>A|||||4281|,T|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000414672|protein_coding||c.-316G>A|||||4017|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000406335|protein_coding||c.-346G>A|||||4498|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000493894|retained_intron||n.-1G>A|||||4266|,T|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000488106|retained_intron||n.-1G>A|||||4305|,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000479135|retained_intron||n.-1C>T|||||3403|,T|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000485037|retained_intron|2/5|n.88C>T||||||,T|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483415|retained_intron|2/8|n.48C>T||||||,T|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000493426|retained_intron|2/4|n.451C>T|||||| 22 29668263 . G A . . 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|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|7/9|c.50+22G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|4/9|c.50+22G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|2/9|c.50+22G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|8/9|c.50+22G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|5/9|c.50+22G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|3/9|c.50+22G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|6/9|c.50+22G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|1/9|c.50+22G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|7/9|c.50+22G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|4/9|c.50+22G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|2/9|c.50+22G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|8/9|c.50+22G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|5/9|c.50+22G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|3/9|c.50+22G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|6/9|c.50+22G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|repeat:2|ENST00000333395|protein_coding|2/9|c.50+22G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|repeat:2|ENST00000333395|protein_coding|3/9|c.50+22G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|repeat:2|ENST00000332035|protein_coding|3/16|c.50+22G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|repeat:2|ENST00000332035|protein_coding|2/16|c.50+22G>A||||||,A|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000216085|protein_coding||c.-426C>T|||||4296|,A|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay||n.-393C>T|||||4329|,A|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000414672|protein_coding||c.-316C>T|||||4065|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000406335|protein_coding||c.-346C>T|||||4546|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000493894|retained_intron||n.-1C>T|||||4314|,A|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000488106|retained_intron||n.-1C>T|||||4353|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000479135|retained_intron||n.-1G>A|||||3355|,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding|2/17|c.50+22G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000444626|protein_coding|2/4|c.50+22G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding|2/14|c.50+22G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding|2/16|c.50+22G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000436425|protein_coding|2/6|c.50+22G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000447973|protein_coding|2/6|c.50+22G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000485037|retained_intron|2/4|n.114+22G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding|2/16|c.50+22G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000437155|protein_coding|2/7|c.50+22G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000415761|protein_coding|2/5|c.50+22G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding|2/14|c.50+22G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483415|retained_intron|2/7|n.74+22G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000333395|protein_coding|2/8|c.50+22G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000455726|protein_coding|2/6|c.50+22G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding|2/15|c.50+22G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000493426|retained_intron|2/3|n.477+22G>A|||||| 22 29668264 . T C . . ANN=C|sequence_feature|LOW|EWSR1|ENSG00000182944|repeat:2|ENST00000414183|protein_coding|3/18|c.50+23T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|repeat:2|ENST00000414183|protein_coding|2/18|c.50+23T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|4/17|c.50+23T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|8/17|c.50+23T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|3/17|c.50+23T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|7/17|c.50+23T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|2/17|c.50+23T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|5/17|c.50+23T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|6/17|c.50+23T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|1/17|c.50+23T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|4/17|c.50+23T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|8/17|c.50+23T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|3/17|c.50+23T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|7/17|c.50+23T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|2/17|c.50+23T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|5/17|c.50+23T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|6/17|c.50+23T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|repeat:2|ENST00000397938|protein_coding|3/17|c.50+23T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|repeat:2|ENST00000397938|protein_coding|2/17|c.50+23T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|4/17|c.50+23T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|8/17|c.50+23T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|3/17|c.50+23T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|7/17|c.50+23T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|1/17|c.50+23T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|2/17|c.50+23T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|5/17|c.50+23T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|6/17|c.50+23T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|4/17|c.50+23T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|8/17|c.50+23T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|3/17|c.50+23T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|7/17|c.50+23T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|2/17|c.50+23T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|5/17|c.50+23T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|6/17|c.50+23T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|repeat:2|ENST00000406548|protein_coding|3/17|c.50+23T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|repeat:2|ENST00000406548|protein_coding|2/17|c.50+23T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|7/9|c.50+23T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|4/9|c.50+23T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|2/9|c.50+23T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|8/9|c.50+23T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|5/9|c.50+23T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|3/9|c.50+23T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|6/9|c.50+23T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|1/9|c.50+23T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|7/9|c.50+23T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|4/9|c.50+23T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|2/9|c.50+23T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|8/9|c.50+23T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|5/9|c.50+23T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|3/9|c.50+23T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|6/9|c.50+23T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|repeat:2|ENST00000333395|protein_coding|2/9|c.50+23T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|repeat:2|ENST00000333395|protein_coding|3/9|c.50+23T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|repeat:2|ENST00000332035|protein_coding|3/16|c.50+23T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|repeat:2|ENST00000332035|protein_coding|2/16|c.50+23T>C||||||,C|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000216085|protein_coding||c.-426A>G|||||4297|,C|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay||n.-393A>G|||||4330|,C|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000414672|protein_coding||c.-316A>G|||||4066|WARNING_TRANSCRIPT_NO_STOP_CODON,C|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000406335|protein_coding||c.-346A>G|||||4547|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000493894|retained_intron||n.-1A>G|||||4315|,C|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000488106|retained_intron||n.-1A>G|||||4354|,C|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000479135|retained_intron||n.-1T>C|||||3354|,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding|2/17|c.50+23T>C||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000444626|protein_coding|2/4|c.50+23T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding|2/14|c.50+23T>C||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding|2/16|c.50+23T>C||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000436425|protein_coding|2/6|c.50+23T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000447973|protein_coding|2/6|c.50+23T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000485037|retained_intron|2/4|n.114+23T>C||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding|2/16|c.50+23T>C||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000437155|protein_coding|2/7|c.50+23T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000415761|protein_coding|2/5|c.50+23T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding|2/14|c.50+23T>C||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483415|retained_intron|2/7|n.74+23T>C||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000333395|protein_coding|2/8|c.50+23T>C||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000455726|protein_coding|2/6|c.50+23T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding|2/15|c.50+23T>C||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000493426|retained_intron|2/3|n.477+23T>C|||||| 22 29668432 . AATAATTAC A . . ANN=|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|4/17|c.102+13_102+20delATAATTAC||||||,|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|8/17|c.102+13_102+20delATAATTAC||||||,|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|3/17|c.102+13_102+20delATAATTAC||||||,|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|7/17|c.102+13_102+20delATAATTAC||||||,|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|2/17|c.102+13_102+20delATAATTAC||||||,|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|5/17|c.102+13_102+20delATAATTAC||||||,|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|6/17|c.102+13_102+20delATAATTAC||||||,|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|1/17|c.102+13_102+20delATAATTAC||||||,|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|4/17|c.102+13_102+20delATAATTAC||||||,|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|8/17|c.102+13_102+20delATAATTAC||||||,|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|3/17|c.102+13_102+20delATAATTAC||||||,|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|7/17|c.102+13_102+20delATAATTAC||||||,|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|2/17|c.102+13_102+20delATAATTAC||||||,|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|5/17|c.102+13_102+20delATAATTAC||||||,|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|6/17|c.102+13_102+20delATAATTAC||||||,|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|4/17|c.102+13_102+20delATAATTAC||||||,|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|8/17|c.102+13_102+20delATAATTAC||||||,|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|3/17|c.102+13_102+20delATAATTAC||||||,|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|7/17|c.102+13_102+20delATAATTAC||||||,|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|1/17|c.102+13_102+20delATAATTAC||||||,|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|2/17|c.102+13_102+20delATAATTAC||||||,|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|5/17|c.102+13_102+20delATAATTAC||||||,|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|6/17|c.102+13_102+20delATAATTAC||||||,|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|4/17|c.102+13_102+20delATAATTAC||||||,|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|8/17|c.102+13_102+20delATAATTAC||||||,|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|3/17|c.102+13_102+20delATAATTAC||||||,|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|7/17|c.102+13_102+20delATAATTAC||||||,|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|2/17|c.102+13_102+20delATAATTAC||||||,|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|5/17|c.102+13_102+20delATAATTAC||||||,|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|6/17|c.102+13_102+20delATAATTAC||||||,|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|7/9|c.102+13_102+20delATAATTAC||||||,|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|4/9|c.102+13_102+20delATAATTAC||||||,|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|2/9|c.102+13_102+20delATAATTAC||||||,|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|8/9|c.102+13_102+20delATAATTAC||||||,|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|5/9|c.102+13_102+20delATAATTAC||||||,|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|3/9|c.102+13_102+20delATAATTAC||||||,|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|6/9|c.102+13_102+20delATAATTAC||||||,|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|1/9|c.102+13_102+20delATAATTAC||||||,|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|7/9|c.102+13_102+20delATAATTAC||||||,|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|4/9|c.102+13_102+20delATAATTAC||||||,|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|2/9|c.102+13_102+20delATAATTAC||||||,|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|8/9|c.102+13_102+20delATAATTAC||||||,|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|5/9|c.102+13_102+20delATAATTAC||||||,|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|3/9|c.102+13_102+20delATAATTAC||||||,|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|6/9|c.102+13_102+20delATAATTAC||||||,|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000216085|protein_coding||c.-426_-426delGTAATTAT|||||4466|,|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay||n.-393_-393delGTAATTAT|||||4499|,|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000414672|protein_coding||c.-316_-316delGTAATTAT|||||4235|WARNING_TRANSCRIPT_NO_STOP_CODON,|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000406335|protein_coding||c.-346_-346delGTAATTAT|||||4716|WARNING_TRANSCRIPT_INCOMPLETE,|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000493894|retained_intron||n.-1_-1delGTAATTAT|||||4484|,|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000488106|retained_intron||n.-1_-1delGTAATTAT|||||4523|,|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000479135|retained_intron||n.-1_-1delATAATTAC|||||3185|,|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding|3/17|c.102+15_102+22delAATTACAT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000444626|protein_coding|3/4|c.96+15_96+22delAATTACAT||||||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding|3/14|c.102+15_102+22delAATTACAT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding|3/16|c.102+15_102+22delAATTACAT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000436425|protein_coding|3/6|c.102+15_102+22delAATTACAT||||||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000447973|protein_coding|3/6|c.102+15_102+22delAATTACAT||||||WARNING_TRANSCRIPT_NO_STOP_CODON&INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000485037|retained_intron|3/4|n.166+15_166+22delAATTACAT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding|3/16|c.102+15_102+22delAATTACAT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000437155|protein_coding|3/7|c.102+15_102+22delAATTACAT||||||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000415761|protein_coding|3/5|c.102+15_102+22delAATTACAT||||||WARNING_TRANSCRIPT_NO_STOP_CODON&INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding|3/14|c.102+15_102+22delAATTACAT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483415|retained_intron|3/7|n.126+15_126+22delAATTACAT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000333395|protein_coding|3/8|c.102+15_102+22delAATTACAT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000455726|protein_coding|3/6|c.102+15_102+22delAATTACAT||||||WARNING_TRANSCRIPT_NO_STOP_CODON&INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding|3/15|c.102+15_102+22delAATTACAT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000493426|retained_intron|3/3|n.529+15_529+22delAATTACAT||||||INFO_REALIGN_3_PRIME 22 29668433 . A G . . ANN=G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|4/17|c.102+13A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|8/17|c.102+13A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|3/17|c.102+13A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|7/17|c.102+13A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|2/17|c.102+13A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|5/17|c.102+13A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|6/17|c.102+13A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|1/17|c.102+13A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|4/17|c.102+13A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|8/17|c.102+13A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|3/17|c.102+13A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|7/17|c.102+13A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|2/17|c.102+13A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|5/17|c.102+13A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|6/17|c.102+13A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|4/17|c.102+13A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|8/17|c.102+13A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|3/17|c.102+13A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|7/17|c.102+13A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|1/17|c.102+13A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|2/17|c.102+13A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|5/17|c.102+13A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|6/17|c.102+13A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|4/17|c.102+13A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|8/17|c.102+13A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|3/17|c.102+13A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|7/17|c.102+13A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|2/17|c.102+13A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|5/17|c.102+13A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|6/17|c.102+13A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|7/9|c.102+13A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|4/9|c.102+13A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|2/9|c.102+13A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|8/9|c.102+13A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|5/9|c.102+13A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|3/9|c.102+13A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|6/9|c.102+13A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|1/9|c.102+13A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|7/9|c.102+13A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|4/9|c.102+13A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|2/9|c.102+13A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|8/9|c.102+13A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|5/9|c.102+13A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|3/9|c.102+13A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|6/9|c.102+13A>G||||||,G|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000216085|protein_coding||c.-426T>C|||||4466|,G|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay||n.-393T>C|||||4499|,G|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000414672|protein_coding||c.-316T>C|||||4235|WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000406335|protein_coding||c.-346T>C|||||4716|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000493894|retained_intron||n.-1T>C|||||4484|,G|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000488106|retained_intron||n.-1T>C|||||4523|,G|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000479135|retained_intron||n.-1A>G|||||3185|,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding|3/17|c.102+13A>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000444626|protein_coding|3/4|c.96+13A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding|3/14|c.102+13A>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding|3/16|c.102+13A>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000436425|protein_coding|3/6|c.102+13A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000447973|protein_coding|3/6|c.102+13A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000485037|retained_intron|3/4|n.166+13A>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding|3/16|c.102+13A>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000437155|protein_coding|3/7|c.102+13A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000415761|protein_coding|3/5|c.102+13A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding|3/14|c.102+13A>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483415|retained_intron|3/7|n.126+13A>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000333395|protein_coding|3/8|c.102+13A>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000455726|protein_coding|3/6|c.102+13A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding|3/15|c.102+13A>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000493426|retained_intron|3/3|n.529+13A>G|||||| 22 29669693 . T C . . ANN=C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|4/17|c.103-37T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|8/17|c.103-37T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|3/17|c.103-37T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|7/17|c.103-37T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|2/17|c.103-37T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|5/17|c.103-37T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|6/17|c.103-37T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|1/17|c.103-37T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|4/17|c.103-37T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|8/17|c.103-37T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|3/17|c.103-37T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|7/17|c.103-37T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|2/17|c.103-37T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|5/17|c.103-37T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|6/17|c.103-37T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|4/17|c.103-37T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|8/17|c.103-37T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|3/17|c.103-37T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|7/17|c.103-37T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|1/17|c.103-37T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|2/17|c.103-37T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|5/17|c.103-37T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|6/17|c.103-37T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|4/17|c.103-37T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|8/17|c.103-37T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|3/17|c.103-37T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|7/17|c.103-37T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|2/17|c.103-37T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|5/17|c.103-37T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|6/17|c.103-37T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|7/9|c.103-37T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|4/9|c.103-37T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|2/9|c.103-37T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|8/9|c.103-37T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|5/9|c.103-37T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|3/9|c.103-37T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|6/9|c.103-37T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|1/9|c.103-37T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|7/9|c.103-37T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|4/9|c.103-37T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|2/9|c.103-37T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|8/9|c.103-37T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|5/9|c.103-37T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|3/9|c.103-37T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|6/9|c.103-37T>C||||||,C|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000479135|retained_intron||n.-1T>C|||||1925|,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding|3/17|c.103-37T>C||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000444626|protein_coding|3/4|c.97-37T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding|3/14|c.103-37T>C||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding|3/16|c.103-37T>C||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000436425|protein_coding|3/6|c.103-34T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000447973|protein_coding|3/6|c.103-34T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000485037|retained_intron|3/4|n.167-37T>C||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding|3/16|c.103-37T>C||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000437155|protein_coding|3/7|c.103-34T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000415761|protein_coding|3/5|c.102+1273T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding|3/14|c.103-37T>C||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483415|retained_intron|3/7|n.127-37T>C||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000333395|protein_coding|3/8|c.103-37T>C||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000455726|protein_coding|3/6|c.103-37T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding|3/15|c.103-37T>C||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000493426|retained_intron|3/3|n.530-37T>C|||||| 22 29669712 . C G . . ANN=G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|4/17|c.103-18C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|8/17|c.103-18C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|3/17|c.103-18C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|7/17|c.103-18C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|2/17|c.103-18C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|5/17|c.103-18C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|6/17|c.103-18C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|1/17|c.103-18C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|4/17|c.103-18C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|8/17|c.103-18C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|3/17|c.103-18C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|7/17|c.103-18C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|2/17|c.103-18C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|5/17|c.103-18C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|6/17|c.103-18C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|4/17|c.103-18C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|8/17|c.103-18C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|3/17|c.103-18C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|7/17|c.103-18C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|1/17|c.103-18C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|2/17|c.103-18C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|5/17|c.103-18C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|6/17|c.103-18C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|4/17|c.103-18C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|8/17|c.103-18C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|3/17|c.103-18C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|7/17|c.103-18C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|2/17|c.103-18C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|5/17|c.103-18C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|6/17|c.103-18C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|7/9|c.103-18C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|4/9|c.103-18C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|2/9|c.103-18C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|8/9|c.103-18C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|5/9|c.103-18C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|3/9|c.103-18C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|6/9|c.103-18C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|1/9|c.103-18C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|7/9|c.103-18C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|4/9|c.103-18C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|2/9|c.103-18C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|8/9|c.103-18C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|5/9|c.103-18C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|3/9|c.103-18C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|6/9|c.103-18C>G||||||,G|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000479135|retained_intron||n.-1C>G|||||1906|,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding|3/17|c.103-18C>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000444626|protein_coding|3/4|c.97-18C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding|3/14|c.103-18C>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding|3/16|c.103-18C>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000436425|protein_coding|3/6|c.103-15C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000447973|protein_coding|3/6|c.103-15C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000485037|retained_intron|3/4|n.167-18C>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding|3/16|c.103-18C>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000437155|protein_coding|3/7|c.103-15C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000415761|protein_coding|3/5|c.102+1292C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding|3/14|c.103-18C>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483415|retained_intron|3/7|n.127-18C>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000333395|protein_coding|3/8|c.103-18C>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000455726|protein_coding|3/6|c.103-18C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding|3/15|c.103-18C>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000493426|retained_intron|3/3|n.530-18C>G|||||| 22 29669713 . G GT . . ANN=T|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding|3/17|c.103-8dupT||||||INFO_REALIGN_3_PRIME,T|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000444626|protein_coding|3/4|c.97-8dupT||||||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME,T|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding|3/14|c.103-8dupT||||||INFO_REALIGN_3_PRIME,T|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding|3/16|c.103-8dupT||||||INFO_REALIGN_3_PRIME,T|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000436425|protein_coding|3/6|c.103-5dupT||||||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME,T|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000447973|protein_coding|3/6|c.103-5dupT||||||WARNING_TRANSCRIPT_NO_STOP_CODON&INFO_REALIGN_3_PRIME,T|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000485037|retained_intron|3/4|n.167-8dupT||||||INFO_REALIGN_3_PRIME,T|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding|3/16|c.103-8dupT||||||INFO_REALIGN_3_PRIME,T|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000437155|protein_coding|3/7|c.103-5dupT||||||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME,T|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding|3/14|c.103-8dupT||||||INFO_REALIGN_3_PRIME,T|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000483415|retained_intron|3/7|n.127-8dupT||||||INFO_REALIGN_3_PRIME,T|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000333395|protein_coding|3/8|c.103-8dupT||||||INFO_REALIGN_3_PRIME,T|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000455726|protein_coding|3/6|c.103-8dupT||||||WARNING_TRANSCRIPT_NO_STOP_CODON&INFO_REALIGN_3_PRIME,T|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding|3/15|c.103-8dupT||||||INFO_REALIGN_3_PRIME,T|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000493426|retained_intron|3/3|n.530-8dupT||||||INFO_REALIGN_3_PRIME,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|4/17|c.103-17_103-16insT||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|8/17|c.103-17_103-16insT||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|3/17|c.103-17_103-16insT||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|7/17|c.103-17_103-16insT||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|2/17|c.103-17_103-16insT||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|5/17|c.103-17_103-16insT||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|6/17|c.103-17_103-16insT||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|1/17|c.103-17_103-16insT||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|4/17|c.103-17_103-16insT||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|8/17|c.103-17_103-16insT||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|3/17|c.103-17_103-16insT||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|7/17|c.103-17_103-16insT||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|2/17|c.103-17_103-16insT||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|5/17|c.103-17_103-16insT||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|6/17|c.103-17_103-16insT||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|4/17|c.103-17_103-16insT||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|8/17|c.103-17_103-16insT||||||,T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22 29669885 . G A . . 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_Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|4/9|c.226+32G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|2/9|c.226+32G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|8/9|c.226+32G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|5/9|c.226+32G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|3/9|c.226+32G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|6/9|c.226+32G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|1/9|c.226+32G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|7/9|c.226+32G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|4/9|c.226+32G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|2/9|c.226+32G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|8/9|c.226+32G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|5/9|c.226+32G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|3/9|c.226+32G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|6/9|c.226+32G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|repeat:9|ENST00000333395|protein_coding|4/9|c.226+32G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|repeat:9|ENST00000333395|protein_coding|5/9|c.226+32G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|repeat:9|ENST00000332035|protein_coding|4/16|c.226+32G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|repeat:9|ENST00000332035|protein_coding|5/16|c.226+32G>A||||||,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000479135|retained_intron||n.-1G>A|||||1733|,A|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000493426|retained_intron||n.*581G>A|||||104|,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding|4/17|c.226+32G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000444626|protein_coding|4/4|c.220+32G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding|4/14|c.226+32G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding|4/16|c.226+32G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000436425|protein_coding|4/6|c.229+32G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000447973|protein_coding|4/6|c.229+32G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000485037|retained_intron|4/4|n.290+32G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding|4/16|c.226+32G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000437155|protein_coding|4/7|c.229+32G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000415761|protein_coding|3/5|c.102+1465G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding|4/14|c.226+32G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483415|retained_intron|4/7|n.250+32G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000333395|protein_coding|4/8|c.226+32G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000455726|protein_coding|4/6|c.226+32G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding|4/15|c.226+32G>A|||||| 22 29669901 . T C . . 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_Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|4/9|c.226+48T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|2/9|c.226+48T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|8/9|c.226+48T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|5/9|c.226+48T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|3/9|c.226+48T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|6/9|c.226+48T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|1/9|c.226+48T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|7/9|c.226+48T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|4/9|c.226+48T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|2/9|c.226+48T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|8/9|c.226+48T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|5/9|c.226+48T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|3/9|c.226+48T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|6/9|c.226+48T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|repeat:9|ENST00000333395|protein_coding|4/9|c.226+48T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|repeat:9|ENST00000333395|protein_coding|5/9|c.226+48T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|repeat:9|ENST00000332035|protein_coding|4/16|c.226+48T>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|repeat:9|ENST00000332035|protein_coding|5/16|c.226+48T>C||||||,C|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000479135|retained_intron||n.-1T>C|||||1717|,C|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000493426|retained_intron||n.*581T>C|||||120|,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding|4/17|c.226+48T>C||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000444626|protein_coding|4/4|c.220+48T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding|4/14|c.226+48T>C||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding|4/16|c.226+48T>C||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000436425|protein_coding|4/6|c.229+48T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000447973|protein_coding|4/6|c.229+48T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000485037|retained_intron|4/4|n.290+48T>C||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding|4/16|c.226+48T>C||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000437155|protein_coding|4/7|c.229+48T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000415761|protein_coding|3/5|c.102+1481T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding|4/14|c.226+48T>C||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483415|retained_intron|4/7|n.250+48T>C||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000333395|protein_coding|4/8|c.226+48T>C||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000455726|protein_coding|4/6|c.226+48T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding|4/15|c.226+48T>C|||||| 22 29678394 . C G . . 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22 29682903 . C G . . 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|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|7/9|c.582-9C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|4/9|c.582-9C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|2/9|c.582-9C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|8/9|c.582-9C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|5/9|c.582-9C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|3/9|c.582-9C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|6/9|c.582-9C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|1/9|c.582-9C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|7/9|c.582-9C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|4/9|c.582-9C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|2/9|c.582-9C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|8/9|c.582-9C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|5/9|c.582-9C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|3/9|c.582-9C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|6/9|c.582-9C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|repeat:20|ENST00000333395|protein_coding|7/9|c.582-9C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|repeat:20|ENST00000333395|protein_coding|6/9|c.582-9C>G||||||,G|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000469669|retained_intron||n.-1C>G|||||3916|,G|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000436425|protein_coding||c.*553C>G|||||4490|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000447973|protein_coding||c.*582C>G|||||4458|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding|7/17|c.600-9C>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding|6/14|c.582-9C>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding|6/16|c.582-9C>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding|6/16|c.582-9C>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000437155|protein_coding|6/7|c.585-9C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000415761|protein_coding|5/5|c.357-9C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding|6/14|c.582-9C>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483415|retained_intron|6/7|n.606-9C>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000333395|protein_coding|6/8|c.582-9C>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000455726|protein_coding|5/6|c.414-9C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding|5/15|c.414-9C>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000479135|retained_intron|2/11|n.2757-9C>G|||||| 22 29682930 . G A . . ANN=A|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding|8/18|c.618G>A|p.Pro206Pro|639/2189|618/1986|206/661||,A|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding|7/15|c.600G>A|p.Pro200Pro|928/2443|600/1752|200/583||,A|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding|7/17|c.600G>A|p.Pro200Pro|919/2654|600/1971|200/656||,A|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding|7/17|c.600G>A|p.Pro200Pro|664/2207|600/1968|200/655||,A|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000437155|protein_coding|7/8|c.603G>A|p.Pro201Pro|658/933|603/878|201/291||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000415761|protein_coding|6/6|c.375G>A|p.Pro125Pro|422/587|375/540|125/179||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding|7/15|c.600G>A|p.Pro200Pro|646/2267|600/1857|200/618||,A|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000333395|protein_coding|7/9|c.600G>A|p.Pro200Pro|619/1265|600/1065|200/354||,A|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000455726|protein_coding|6/7|c.432G>A|p.Pro144Pro|443/710|432/699|144/232||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding|6/16|c.432G>A|p.Pro144Pro|443/1989|432/1803|144/600||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|repeat:20|ENST00000414183|protein_coding|8/18|c.618G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|repeat:20|ENST00000414183|protein_coding|7/18|c.618G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|4/17|c.600G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|8/17|c.600G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|3/17|c.600G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|7/17|c.600G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|2/17|c.600G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|5/17|c.600G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|6/17|c.600G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|1/17|c.600G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|4/17|c.600G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|8/17|c.600G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|3/17|c.600G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|7/17|c.600G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|2/17|c.600G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|5/17|c.600G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|6/17|c.600G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|repeat:20|ENST00000397938|protein_coding|7/17|c.600G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|repeat:20|ENST00000397938|protein_coding|6/17|c.600G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|4/17|c.600G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|8/17|c.600G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|3/17|c.600G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|7/17|c.600G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|1/17|c.600G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|2/17|c.600G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|5/17|c.600G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|6/17|c.600G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|4/17|c.600G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|8/17|c.600G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|3/17|c.600G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|7/17|c.600G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|2/17|c.600G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|5/17|c.600G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|6/17|c.600G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|repeat:20|ENST00000406548|protein_coding|7/17|c.600G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|repeat:20|ENST00000406548|protein_coding|6/17|c.600G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|7/9|c.600G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|4/9|c.600G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|2/9|c.600G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|8/9|c.600G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|5/9|c.600G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|3/9|c.600G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|6/9|c.600G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|1/9|c.600G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|7/9|c.600G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|4/9|c.600G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|2/9|c.600G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|8/9|c.600G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|5/9|c.600G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|3/9|c.600G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|6/9|c.600G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|repeat:20|ENST00000333395|protein_coding|7/9|c.600G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|repeat:20|ENST00000333395|protein_coding|6/9|c.600G>A||||||,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000469669|retained_intron||n.-1G>A|||||3889|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483629|retained_intron||n.-1G>A|||||4988|,A|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000436425|protein_coding||c.*553G>A|||||4517|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000447973|protein_coding||c.*582G>A|||||4485|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483415|retained_intron|7/8|n.624G>A||||||,A|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000479135|retained_intron|3/12|n.2775G>A|||||| 22 29683035 . G A . . ANN=A|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding|8/18|c.723G>A|p.Gln241Gln|744/2189|723/1986|241/661||,A|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding|7/15|c.705G>A|p.Gln235Gln|1033/2443|705/1752|235/583||,A|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding|7/17|c.705G>A|p.Gln235Gln|1024/2654|705/1971|235/656||,A|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding|7/17|c.705G>A|p.Gln235Gln|769/2207|705/1968|235/655||,A|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000437155|protein_coding|7/8|c.708G>A|p.Gln236Gln|763/933|708/878|236/291||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000415761|protein_coding|6/6|c.480G>A|p.Gln160Gln|527/587|480/540|160/179||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding|7/15|c.705G>A|p.Gln235Gln|751/2267|705/1857|235/618||,A|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000333395|protein_coding|7/9|c.705G>A|p.Gln235Gln|724/1265|705/1065|235/354||,A|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000455726|protein_coding|6/7|c.537G>A|p.Gln179Gln|548/710|537/699|179/232||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding|6/16|c.537G>A|p.Gln179Gln|548/1989|537/1803|179/600||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|repeat:26|ENST00000414183|protein_coding|8/18|c.723G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|4/17|c.705G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|8/17|c.705G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|3/17|c.705G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|7/17|c.705G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|2/17|c.705G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|5/17|c.705G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|6/17|c.705G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|1/17|c.705G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|4/17|c.705G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|8/17|c.705G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|3/17|c.705G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|7/17|c.705G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|2/17|c.705G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|5/17|c.705G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|6/17|c.705G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|repeat:26|ENST00000397938|protein_coding|7/17|c.705G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|4/17|c.705G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|8/17|c.705G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|3/17|c.705G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|7/17|c.705G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|1/17|c.705G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|2/17|c.705G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|5/17|c.705G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|6/17|c.705G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|4/17|c.705G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|8/17|c.705G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|3/17|c.705G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|7/17|c.705G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|2/17|c.705G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|5/17|c.705G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|6/17|c.705G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|repeat:26|ENST00000406548|protein_coding|7/17|c.705G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|7/9|c.705G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|4/9|c.705G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|2/9|c.705G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|8/9|c.705G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|5/9|c.705G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|3/9|c.705G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|6/9|c.705G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|1/9|c.705G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|7/9|c.705G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|4/9|c.705G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|2/9|c.705G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|8/9|c.705G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|5/9|c.705G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|3/9|c.705G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|6/9|c.705G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|repeat:26|ENST00000333395|protein_coding|7/9|c.705G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|repeat:26|ENST00000332035|protein_coding|6/16|c.537G>A||||||,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000469669|retained_intron||n.-1G>A|||||3784|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483629|retained_intron||n.-1G>A|||||4883|,A|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000436425|protein_coding||c.*553G>A|||||4622|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000447973|protein_coding||c.*582G>A|||||4590|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483415|retained_intron|7/8|n.729G>A||||||,A|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000479135|retained_intron|3/12|n.2880G>A|||||| 22 29683098 . A G . . ANN=G|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding|8/18|c.786A>G|p.Gln262Gln|807/2189|786/1986|262/661||,G|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding|7/15|c.768A>G|p.Gln256Gln|1096/2443|768/1752|256/583||,G|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding|7/17|c.768A>G|p.Gln256Gln|1087/2654|768/1971|256/656||,G|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding|7/17|c.768A>G|p.Gln256Gln|832/2207|768/1968|256/655||,G|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000437155|protein_coding|7/8|c.771A>G|p.Gln257Gln|826/933|771/878|257/291||WARNING_TRANSCRIPT_INCOMPLETE,G|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding|7/15|c.768A>G|p.Gln256Gln|814/2267|768/1857|256/618||,G|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000333395|protein_coding|7/9|c.768A>G|p.Gln256Gln|787/1265|768/1065|256/354||,G|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000455726|protein_coding|6/7|c.600A>G|p.Gln200Gln|611/710|600/699|200/232||WARNING_TRANSCRIPT_NO_STOP_CODON,G|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding|6/16|c.600A>G|p.Gln200Gln|611/1989|600/1803|200/600||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|repeat:29|ENST00000414183|protein_coding|8/18|c.786A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:IQ|ENST00000414183|protein_coding|9/18|c.786A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:IQ|ENST00000414183|protein_coding|8/18|c.786A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|4/17|c.768A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|8/17|c.768A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|3/17|c.768A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|7/17|c.768A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|2/17|c.768A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|5/17|c.768A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|6/17|c.768A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|1/17|c.768A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|4/17|c.768A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|8/17|c.768A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|3/17|c.768A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|7/17|c.768A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|2/17|c.768A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|5/17|c.768A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|6/17|c.768A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|repeat:29|ENST00000397938|protein_coding|7/17|c.768A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:IQ|ENST00000397938|protein_coding|8/17|c.768A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:IQ|ENST00000397938|protein_coding|7/17|c.768A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|4/17|c.768A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|8/17|c.768A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|3/17|c.768A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|7/17|c.768A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|1/17|c.768A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|2/17|c.768A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|5/17|c.768A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|6/17|c.768A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|4/17|c.768A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|8/17|c.768A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|3/17|c.768A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|7/17|c.768A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|2/17|c.768A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|5/17|c.768A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|6/17|c.768A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|repeat:29|ENST00000406548|protein_coding|7/17|c.768A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:IQ|ENST00000406548|protein_coding|8/17|c.768A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:IQ|ENST00000406548|protein_coding|7/17|c.768A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|7/9|c.768A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|4/9|c.768A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|2/9|c.768A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|8/9|c.768A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|5/9|c.768A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|3/9|c.768A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|6/9|c.768A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|1/9|c.768A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|7/9|c.768A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|4/9|c.768A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|2/9|c.768A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|8/9|c.768A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|5/9|c.768A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|3/9|c.768A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|6/9|c.768A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|repeat:29|ENST00000333395|protein_coding|7/9|c.768A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:IQ|ENST00000333395|protein_coding|7/9|c.768A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:IQ|ENST00000333395|protein_coding|8/9|c.768A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|repeat:29|ENST00000332035|protein_coding|6/16|c.600A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:IQ|ENST00000332035|protein_coding|7/16|c.600A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:IQ|ENST00000332035|protein_coding|6/16|c.600A>G||||||,G|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000469669|retained_intron||n.-1A>G|||||3721|,G|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483629|retained_intron||n.-1A>G|||||4820|,G|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000436425|protein_coding||c.*553A>G|||||4685|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000447973|protein_coding||c.*582A>G|||||4653|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000415761|protein_coding||c.*587A>G|||||3|WARNING_TRANSCRIPT_NO_STOP_CODON,G|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483415|retained_intron|7/8|n.792A>G||||||,G|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000479135|retained_intron|3/12|n.2943A>G|||||| 22 29684676 . G A . . ANN=A|missense_variant|MODERATE|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding|9/18|c.893G>A|p.Arg298Gln|914/2189|893/1986|298/661||,A|missense_variant|MODERATE|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding|8/17|c.875G>A|p.Arg292Gln|1194/2654|875/1971|292/656||,A|missense_variant|MODERATE|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding|8/17|c.875G>A|p.Arg292Gln|939/2207|875/1968|292/655||,A|missense_variant|MODERATE|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding|8/15|c.875G>A|p.Arg292Gln|921/2267|875/1857|292/618||,A|missense_variant|MODERATE|EWSR1|ENSG00000182944|transcript|ENST00000333395|protein_coding|8/9|c.875G>A|p.Arg292Gln|894/1265|875/1065|292/354||,A|missense_variant|MODERATE|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding|7/16|c.707G>A|p.Arg236Gln|718/1989|707/1803|236/600||,A|splice_region_variant&synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000437155|protein_coding|8/8|c.878G>A|p.???293???|933/933|878/878|293/291||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000469669|retained_intron||n.-1G>A|||||2143|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483629|retained_intron||n.-1G>A|||||3242|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000360091|protein_coding||c.-2G>A|||||3472|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000415761|protein_coding||c.*587G>A|||||1581|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000455726|protein_coding||c.*710G>A|||||8|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding|7/14|c.793+1553G>A||||||,A|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483415|retained_intron|8/8|n.899G>A||||||,A|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000479135|retained_intron|4/12|n.3050G>A|||||| 22 29688208 . G A . . ANN=A|sequence_feature|LOW|EWSR1|ENSG00000182944|site:Breakpoint_for_insertion_to_form_EWSR1-FEV_fusion_protein|ENST00000414183|protein_coding|11/18|c.1060+50G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|site:Breakpoint_for_insertion_to_form_EWSR1-FEV_fusion_protein|ENST00000414183|protein_coding|12/18|c.1060+50G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|site:Breakpoint_for_insertion_to_form_EWSR1-FEV_fusion_protein|ENST00000397938|protein_coding|10/17|c.1045+50G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|site:Breakpoint_for_insertion_to_form_EWSR1-FEV_fusion_protein|ENST00000397938|protein_coding|11/17|c.1045+50G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|site:Breakpoint_for_insertion_to_form_EWSR1-FEV_fusion_protein|ENST00000406548|protein_coding|10/17|c.1042+50G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|site:Breakpoint_for_insertion_to_form_EWSR1-FEV_fusion_protein|ENST00000406548|protein_coding|11/17|c.1042+50G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|site:Breakpoint_for_insertion_to_form_EWSR1-FEV_fusion_protein|ENST00000332035|protein_coding|9/16|c.877+50G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|site:Breakpoint_for_insertion_to_form_EWSR1-FEV_fusion_protein|ENST00000332035|protein_coding|10/16|c.877+50G>A||||||,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000490315|retained_intron||n.-1G>A|||||3307|,A|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000437155|protein_coding||c.*933G>A|||||3532|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483415|retained_intron||n.*3231G>A|||||1200|,A|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000333395|protein_coding||c.*1084G>A|||||1535|,A|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000455726|protein_coding||c.*710G>A|||||3540|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding|11/17|c.1060+50G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding|8/14|c.826+50G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding|10/16|c.1045+50G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding|10/16|c.1042+50G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding|8/14|c.944-281G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding|9/15|c.877+50G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000479135|retained_intron|5/11|n.5995+50G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000469669|retained_intron|1/7|n.1340+50G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483629|retained_intron|1/6|n.241+50G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000360091|protein_coding|1/7|c.10+50G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 29688446 . A G . . ANN=G|sequence_feature|LOW|EWSR1|ENSG00000182944|site:Breakpoint_for_insertion_to_form_EWSR1-FEV_fusion_protein|ENST00000414183|protein_coding|11/18|c.1061-31A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|site:Breakpoint_for_insertion_to_form_EWSR1-FEV_fusion_protein|ENST00000414183|protein_coding|12/18|c.1061-31A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|site:Breakpoint_for_insertion_to_form_EWSR1-FEV_fusion_protein|ENST00000397938|protein_coding|10/17|c.1046-31A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|site:Breakpoint_for_insertion_to_form_EWSR1-FEV_fusion_protein|ENST00000397938|protein_coding|11/17|c.1046-31A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|site:Breakpoint_for_insertion_to_form_EWSR1-FEV_fusion_protein|ENST00000406548|protein_coding|10/17|c.1043-31A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|site:Breakpoint_for_insertion_to_form_EWSR1-FEV_fusion_protein|ENST00000406548|protein_coding|11/17|c.1043-31A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|site:Breakpoint_for_insertion_to_form_EWSR1-FEV_fusion_protein|ENST00000332035|protein_coding|9/16|c.878-31A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|site:Breakpoint_for_insertion_to_form_EWSR1-FEV_fusion_protein|ENST00000332035|protein_coding|10/16|c.878-31A>G||||||,G|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000490315|retained_intron||n.-1A>G|||||3069|,G|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000437155|protein_coding||c.*933A>G|||||3770|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483415|retained_intron||n.*3231A>G|||||1438|,G|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000333395|protein_coding||c.*1084A>G|||||1773|,G|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000455726|protein_coding||c.*710A>G|||||3778|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding|11/17|c.1061-31A>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding|8/14|c.827-31A>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding|10/16|c.1046-31A>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding|10/16|c.1043-31A>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding|8/14|c.944-43A>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding|9/15|c.878-31A>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000479135|retained_intron|5/11|n.5996-31A>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000469669|retained_intron|1/7|n.1341-31A>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483629|retained_intron|1/6|n.242-31A>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000360091|protein_coding|1/7|c.11-31A>G||||||WARNING_TRANSCRIPT_NO_START_CODON 22 29688460 . C G . . ANN=G|sequence_feature|LOW|EWSR1|ENSG00000182944|site:Breakpoint_for_insertion_to_form_EWSR1-FEV_fusion_protein|ENST00000414183|protein_coding|11/18|c.1061-17C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|site:Breakpoint_for_insertion_to_form_EWSR1-FEV_fusion_protein|ENST00000414183|protein_coding|12/18|c.1061-17C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|site:Breakpoint_for_insertion_to_form_EWSR1-FEV_fusion_protein|ENST00000397938|protein_coding|10/17|c.1046-17C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|site:Breakpoint_for_insertion_to_form_EWSR1-FEV_fusion_protein|ENST00000397938|protein_coding|11/17|c.1046-17C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|site:Breakpoint_for_insertion_to_form_EWSR1-FEV_fusion_protein|ENST00000406548|protein_coding|10/17|c.1043-17C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|site:Breakpoint_for_insertion_to_form_EWSR1-FEV_fusion_protein|ENST00000406548|protein_coding|11/17|c.1043-17C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|site:Breakpoint_for_insertion_to_form_EWSR1-FEV_fusion_protein|ENST00000332035|protein_coding|9/16|c.878-17C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|site:Breakpoint_for_insertion_to_form_EWSR1-FEV_fusion_protein|ENST00000332035|protein_coding|10/16|c.878-17C>G||||||,G|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000490315|retained_intron||n.-1C>G|||||3055|,G|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000437155|protein_coding||c.*933C>G|||||3784|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483415|retained_intron||n.*3231C>G|||||1452|,G|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000333395|protein_coding||c.*1084C>G|||||1787|,G|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000455726|protein_coding||c.*710C>G|||||3792|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding|11/17|c.1061-17C>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding|8/14|c.827-17C>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding|10/16|c.1046-17C>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding|10/16|c.1043-17C>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding|8/14|c.944-29C>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding|9/15|c.878-17C>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000479135|retained_intron|5/11|n.5996-17C>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000469669|retained_intron|1/7|n.1341-17C>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483629|retained_intron|1/6|n.242-17C>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000360091|protein_coding|1/7|c.11-17C>G||||||WARNING_TRANSCRIPT_NO_START_CODON 22 29688598 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding|12/17|c.1179+3C>T||||||,T|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding|9/14|c.945+3C>T||||||,T|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding|11/16|c.1164+3C>T||||||,T|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding|11/16|c.1161+3C>T||||||,T|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding|9/14|c.1050+3C>T||||||,T|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding|10/15|c.996+3C>T||||||,T|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000479135|retained_intron|6/11|n.6114+3C>T||||||,T|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000469669|retained_intron|2/7|n.1459+3C>T||||||,T|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000483629|retained_intron|2/6|n.360+3C>T||||||,T|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000360091|protein_coding|2/7|c.129+3C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000414183|protein_coding|13/18|c.1179+3C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000414183|protein_coding|14/18|c.1179+3C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000414183|protein_coding|12/18|c.1179+3C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000397938|protein_coding|12/17|c.1164+3C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000397938|protein_coding|13/17|c.1164+3C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000397938|protein_coding|11/17|c.1164+3C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000406548|protein_coding|12/17|c.1161+3C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000406548|protein_coding|13/17|c.1161+3C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000406548|protein_coding|11/17|c.1161+3C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000332035|protein_coding|11/16|c.996+3C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000332035|protein_coding|12/16|c.996+3C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000332035|protein_coding|10/16|c.996+3C>T||||||,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000490315|retained_intron||n.-1C>T|||||2917|,T|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000437155|protein_coding||c.*933C>T|||||3922|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483415|retained_intron||n.*3231C>T|||||1590|,T|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000333395|protein_coding||c.*1084C>T|||||1925|,T|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000455726|protein_coding||c.*710C>T|||||3930|WARNING_TRANSCRIPT_NO_STOP_CODON 22 29688632 . T G . . ANN=G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000414183|protein_coding|13/18|c.1179+37T>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000414183|protein_coding|14/18|c.1179+37T>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000414183|protein_coding|12/18|c.1179+37T>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000397938|protein_coding|12/17|c.1164+37T>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000397938|protein_coding|13/17|c.1164+37T>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000397938|protein_coding|11/17|c.1164+37T>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000406548|protein_coding|12/17|c.1161+37T>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000406548|protein_coding|13/17|c.1161+37T>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000406548|protein_coding|11/17|c.1161+37T>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000332035|protein_coding|11/16|c.996+37T>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000332035|protein_coding|12/16|c.996+37T>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000332035|protein_coding|10/16|c.996+37T>G||||||,G|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000490315|retained_intron||n.-1T>G|||||2883|,G|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000437155|protein_coding||c.*933T>G|||||3956|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483415|retained_intron||n.*3231T>G|||||1624|,G|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000333395|protein_coding||c.*1084T>G|||||1959|,G|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000455726|protein_coding||c.*710T>G|||||3964|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding|12/17|c.1179+37T>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding|9/14|c.945+37T>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding|11/16|c.1164+37T>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding|11/16|c.1161+37T>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding|9/14|c.1050+37T>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding|10/15|c.996+37T>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000479135|retained_intron|6/11|n.6114+37T>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000469669|retained_intron|2/7|n.1459+37T>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483629|retained_intron|2/6|n.360+37T>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000360091|protein_coding|2/7|c.129+37T>G||||||WARNING_TRANSCRIPT_NO_START_CODON 22 29692205 . C T . . ANN=T|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000414183|protein_coding|13/18|c.1180-24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000414183|protein_coding|14/18|c.1180-24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000414183|protein_coding|12/18|c.1180-24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000397938|protein_coding|12/17|c.1165-24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000397938|protein_coding|13/17|c.1165-24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000397938|protein_coding|11/17|c.1165-24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000406548|protein_coding|12/17|c.1162-24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000406548|protein_coding|13/17|c.1162-24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000406548|protein_coding|11/17|c.1162-24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000332035|protein_coding|11/16|c.997-24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000332035|protein_coding|12/16|c.997-24C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000332035|protein_coding|10/16|c.997-24C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding|12/17|c.1180-24C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding|9/14|c.946-24C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding|11/16|c.1165-24C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding|11/16|c.1162-24C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding|9/14|c.1051-24C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding|10/15|c.997-24C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000479135|retained_intron|6/11|n.6115-24C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000469669|retained_intron|2/7|n.1460-24C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483629|retained_intron|2/6|n.361-24C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000360091|protein_coding|2/7|c.130-24C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000490315|retained_intron|1/4|n.691C>T|||||| 22 29692240 . A G . . ANN=G|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding|13/18|c.1191A>G|p.Arg397Arg|1212/2189|1191/1986|397/661||,G|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding|10/15|c.957A>G|p.Arg319Arg|1285/2443|957/1752|319/583||,G|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding|12/17|c.1176A>G|p.Arg392Arg|1495/2654|1176/1971|392/656||,G|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding|12/17|c.1173A>G|p.Arg391Arg|1237/2207|1173/1968|391/655||,G|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding|10/15|c.1062A>G|p.Arg354Arg|1108/2267|1062/1857|354/618||,G|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding|11/16|c.1008A>G|p.Arg336Arg|1019/1989|1008/1803|336/600||,G|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000360091|protein_coding|3/8|c.141A>G|p.Arg47Arg|142/1289|141/924|47/307||WARNING_TRANSCRIPT_NO_START_CODON,G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000414183|protein_coding|13/18|c.1191A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000414183|protein_coding|14/18|c.1191A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000414183|protein_coding|12/18|c.1191A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|beta_strand|ENST00000414183|protein_coding|13/18|c.1191A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000397938|protein_coding|12/17|c.1176A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000397938|protein_coding|13/17|c.1176A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000397938|protein_coding|11/17|c.1176A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|beta_strand|ENST00000397938|protein_coding|12/17|c.1176A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000406548|protein_coding|12/17|c.1173A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000406548|protein_coding|13/17|c.1173A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000406548|protein_coding|11/17|c.1173A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|beta_strand|ENST00000406548|protein_coding|12/17|c.1173A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000332035|protein_coding|11/16|c.1008A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000332035|protein_coding|12/16|c.1008A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000332035|protein_coding|10/16|c.1008A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|beta_strand|ENST00000332035|protein_coding|11/16|c.1008A>G||||||,G|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000479135|retained_intron|7/12|n.6126A>G||||||,G|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000469669|retained_intron|3/8|n.1471A>G||||||,G|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483629|retained_intron|3/7|n.372A>G||||||,G|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000490315|retained_intron|1/4|n.726A>G|||||| 22 29692328 . A G . . ANN=G|missense_variant|MODERATE|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding|13/18|c.1279A>G|p.Thr427Ala|1300/2189|1279/1986|427/661||,G|missense_variant|MODERATE|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding|10/15|c.1045A>G|p.Thr349Ala|1373/2443|1045/1752|349/583||,G|missense_variant|MODERATE|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding|12/17|c.1264A>G|p.Thr422Ala|1583/2654|1264/1971|422/656||,G|missense_variant|MODERATE|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding|12/17|c.1261A>G|p.Thr421Ala|1325/2207|1261/1968|421/655||,G|missense_variant|MODERATE|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding|10/15|c.1150A>G|p.Thr384Ala|1196/2267|1150/1857|384/618||,G|missense_variant|MODERATE|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding|11/16|c.1096A>G|p.Thr366Ala|1107/1989|1096/1803|366/600||,G|missense_variant|MODERATE|EWSR1|ENSG00000182944|transcript|ENST00000360091|protein_coding|3/8|c.229A>G|p.Thr77Ala|230/1289|229/924|77/307||WARNING_TRANSCRIPT_NO_START_CODON,G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000414183|protein_coding|13/18|c.1279A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000414183|protein_coding|14/18|c.1279A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000414183|protein_coding|12/18|c.1279A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|helix|ENST00000414183|protein_coding|13/18|c.1279A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000397938|protein_coding|12/17|c.1264A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000397938|protein_coding|13/17|c.1264A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000397938|protein_coding|11/17|c.1264A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|helix|ENST00000397938|protein_coding|12/17|c.1264A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000406548|protein_coding|12/17|c.1261A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000406548|protein_coding|13/17|c.1261A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000406548|protein_coding|11/17|c.1261A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|helix|ENST00000406548|protein_coding|12/17|c.1261A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000332035|protein_coding|11/16|c.1096A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000332035|protein_coding|12/16|c.1096A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000332035|protein_coding|10/16|c.1096A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|helix|ENST00000332035|protein_coding|11/16|c.1096A>G||||||,G|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000479135|retained_intron|7/12|n.6214A>G||||||,G|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000469669|retained_intron|3/8|n.1559A>G||||||,G|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483629|retained_intron|3/7|n.460A>G||||||,G|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000490315|retained_intron|1/4|n.814A>G|||||| 22 29692364 . A T . . ANN=T|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding|13/17|c.1309+6A>T||||||,T|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding|10/14|c.1075+6A>T||||||,T|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding|12/16|c.1294+6A>T||||||,T|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding|12/16|c.1291+6A>T||||||,T|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding|10/14|c.1180+6A>T||||||,T|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding|11/15|c.1126+6A>T||||||,T|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000479135|retained_intron|7/11|n.6244+6A>T||||||,T|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000469669|retained_intron|3/7|n.1589+6A>T||||||,T|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000483629|retained_intron|3/6|n.490+6A>T||||||,T|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000360091|protein_coding|3/7|c.259+6A>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000490315|retained_intron|1/3|n.844+6A>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000414183|protein_coding|13/18|c.1309+6A>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000414183|protein_coding|14/18|c.1309+6A>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000414183|protein_coding|12/18|c.1309+6A>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000397938|protein_coding|12/17|c.1294+6A>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000397938|protein_coding|13/17|c.1294+6A>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000397938|protein_coding|11/17|c.1294+6A>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000406548|protein_coding|12/17|c.1291+6A>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000406548|protein_coding|13/17|c.1291+6A>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000406548|protein_coding|11/17|c.1291+6A>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000332035|protein_coding|11/16|c.1126+6A>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000332035|protein_coding|12/16|c.1126+6A>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000332035|protein_coding|10/16|c.1126+6A>T|||||| 22 29693776 . G A . . ANN=A|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000414183|protein_coding|13/18|c.1310-41G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000414183|protein_coding|14/18|c.1310-41G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000414183|protein_coding|12/18|c.1310-41G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000397938|protein_coding|12/17|c.1295-41G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000397938|protein_coding|13/17|c.1295-41G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000397938|protein_coding|11/17|c.1295-41G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000406548|protein_coding|12/17|c.1292-41G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000406548|protein_coding|13/17|c.1292-41G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000406548|protein_coding|11/17|c.1292-41G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000332035|protein_coding|11/16|c.1127-41G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000332035|protein_coding|12/16|c.1127-41G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000332035|protein_coding|10/16|c.1127-41G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding|13/17|c.1310-41G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding|10/14|c.1076-41G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding|12/16|c.1295-41G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding|12/16|c.1292-41G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding|10/14|c.1181-41G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding|11/15|c.1127-41G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000479135|retained_intron|7/11|n.6245-41G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000469669|retained_intron|3/7|n.1590-41G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483629|retained_intron|3/6|n.491-41G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000360091|protein_coding|3/7|c.260-41G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000490315|retained_intron|1/3|n.845-41G>A|||||| 22 29693794 . G C . . ANN=C|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000414183|protein_coding|13/18|c.1310-23G>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000414183|protein_coding|14/18|c.1310-23G>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000414183|protein_coding|12/18|c.1310-23G>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000397938|protein_coding|12/17|c.1295-23G>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000397938|protein_coding|13/17|c.1295-23G>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000397938|protein_coding|11/17|c.1295-23G>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000406548|protein_coding|12/17|c.1292-23G>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000406548|protein_coding|13/17|c.1292-23G>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000406548|protein_coding|11/17|c.1292-23G>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000332035|protein_coding|11/16|c.1127-23G>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000332035|protein_coding|12/16|c.1127-23G>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000332035|protein_coding|10/16|c.1127-23G>C||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding|13/17|c.1310-23G>C||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding|10/14|c.1076-23G>C||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding|12/16|c.1295-23G>C||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding|12/16|c.1292-23G>C||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding|10/14|c.1181-23G>C||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding|11/15|c.1127-23G>C||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000479135|retained_intron|7/11|n.6245-23G>C||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000469669|retained_intron|3/7|n.1590-23G>C||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483629|retained_intron|3/6|n.491-23G>C||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000360091|protein_coding|3/7|c.260-23G>C||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000490315|retained_intron|1/3|n.845-23G>C|||||| 22 29693915 . G A . . ANN=A|missense_variant|MODERATE|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding|14/18|c.1408G>A|p.Gly470Ser|1429/2189|1408/1986|470/661||,A|missense_variant|MODERATE|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding|11/15|c.1174G>A|p.Gly392Ser|1502/2443|1174/1752|392/583||,A|missense_variant|MODERATE|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding|13/17|c.1393G>A|p.Gly465Ser|1712/2654|1393/1971|465/656||,A|missense_variant|MODERATE|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding|13/17|c.1390G>A|p.Gly464Ser|1454/2207|1390/1968|464/655||,A|missense_variant|MODERATE|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding|11/15|c.1279G>A|p.Gly427Ser|1325/2267|1279/1857|427/618||,A|missense_variant|MODERATE|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding|12/16|c.1225G>A|p.Gly409Ser|1236/1989|1225/1803|409/600||,A|missense_variant|MODERATE|EWSR1|ENSG00000182944|transcript|ENST00000360091|protein_coding|4/8|c.358G>A|p.Gly120Ser|359/1289|358/924|120/307||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000414183|protein_coding|14/18|c.1408G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000414183|protein_coding|15/18|c.1408G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000397938|protein_coding|13/17|c.1393G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000397938|protein_coding|14/17|c.1393G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000406548|protein_coding|13/17|c.1390G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000406548|protein_coding|14/17|c.1390G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000332035|protein_coding|12/16|c.1225G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000332035|protein_coding|13/16|c.1225G>A||||||,A|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000479135|retained_intron|8/12|n.6343G>A||||||,A|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000469669|retained_intron|4/8|n.1688G>A||||||,A|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483629|retained_intron|4/7|n.589G>A||||||,A|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000490315|retained_intron|2/4|n.943G>A|||||| 22 29693954 . C T . . ANN=T|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000414183|protein_coding|14/18|c.1432+15C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000414183|protein_coding|15/18|c.1432+15C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000397938|protein_coding|13/17|c.1417+15C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000397938|protein_coding|14/17|c.1417+15C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000406548|protein_coding|13/17|c.1414+15C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000406548|protein_coding|14/17|c.1414+15C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000332035|protein_coding|12/16|c.1249+15C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000332035|protein_coding|13/16|c.1249+15C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding|14/17|c.1432+15C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding|11/14|c.1198+15C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding|13/16|c.1417+15C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding|13/16|c.1414+15C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding|11/14|c.1303+15C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding|12/15|c.1249+15C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000479135|retained_intron|8/11|n.6367+15C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000469669|retained_intron|4/7|n.1712+15C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483629|retained_intron|4/6|n.613+15C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000360091|protein_coding|4/7|c.382+15C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000490315|retained_intron|2/3|n.967+15C>T|||||| 22 29694684 . A G . . ANN=G|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000414183|protein_coding|14/18|c.1433-39A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000414183|protein_coding|15/18|c.1433-39A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000397938|protein_coding|13/17|c.1418-39A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000397938|protein_coding|14/17|c.1418-39A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000406548|protein_coding|13/17|c.1415-39A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000406548|protein_coding|14/17|c.1415-39A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000332035|protein_coding|12/16|c.1250-39A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000332035|protein_coding|13/16|c.1250-39A>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding|14/17|c.1433-39A>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding|11/14|c.1199-39A>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding|13/16|c.1418-39A>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding|13/16|c.1415-39A>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding|11/14|c.1304-39A>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding|12/15|c.1250-39A>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000479135|retained_intron|8/11|n.6368-39A>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000469669|retained_intron|4/7|n.1713-39A>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483629|retained_intron|4/6|n.614-39A>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000360091|protein_coding|4/7|c.383-39A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000490315|retained_intron|2/3|n.968-39A>G|||||| 22 29694688 . A G . . ANN=G|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000414183|protein_coding|14/18|c.1433-35A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000414183|protein_coding|15/18|c.1433-35A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000397938|protein_coding|13/17|c.1418-35A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000397938|protein_coding|14/17|c.1418-35A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000406548|protein_coding|13/17|c.1415-35A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000406548|protein_coding|14/17|c.1415-35A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000332035|protein_coding|12/16|c.1250-35A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000332035|protein_coding|13/16|c.1250-35A>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding|14/17|c.1433-35A>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding|11/14|c.1199-35A>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding|13/16|c.1418-35A>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding|13/16|c.1415-35A>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding|11/14|c.1304-35A>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding|12/15|c.1250-35A>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000479135|retained_intron|8/11|n.6368-35A>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000469669|retained_intron|4/7|n.1713-35A>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483629|retained_intron|4/6|n.614-35A>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000360091|protein_coding|4/7|c.383-35A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000490315|retained_intron|2/3|n.968-35A>G|||||| 22 29694707 . G C . . ANN=C|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000414183|protein_coding|14/18|c.1433-16G>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000414183|protein_coding|15/18|c.1433-16G>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000397938|protein_coding|13/17|c.1418-16G>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000397938|protein_coding|14/17|c.1418-16G>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000406548|protein_coding|13/17|c.1415-16G>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000406548|protein_coding|14/17|c.1415-16G>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000332035|protein_coding|12/16|c.1250-16G>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000332035|protein_coding|13/16|c.1250-16G>C||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding|14/17|c.1433-16G>C||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding|11/14|c.1199-16G>C||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding|13/16|c.1418-16G>C||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding|13/16|c.1415-16G>C||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding|11/14|c.1304-16G>C||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding|12/15|c.1250-16G>C||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000479135|retained_intron|8/11|n.6368-16G>C||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000469669|retained_intron|4/7|n.1713-16G>C||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483629|retained_intron|4/6|n.614-16G>C||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000360091|protein_coding|4/7|c.383-16G>C||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000490315|retained_intron|2/3|n.968-16G>C|||||| 22 29694892 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding|15/17|c.1595+7A>G||||||,G|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding|12/14|c.1361+7A>G||||||,G|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding|14/16|c.1580+7A>G||||||,G|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding|14/16|c.1577+7A>G||||||,G|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding|12/14|c.1466+7A>G||||||,G|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding|13/15|c.1412+7A>G||||||,G|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000479135|retained_intron|9/11|n.6530+7A>G||||||,G|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000469669|retained_intron|5/7|n.1875+7A>G||||||,G|splice_region_variant&intron_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000360091|protein_coding|5/7|c.545+7A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,G|sequence_feature|LOW|EWSR1|ENSG00000182944|zinc_finger_region:RanBP2-type|ENST00000414183|protein_coding|16/18|c.1595+7A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|zinc_finger_region:RanBP2-type|ENST00000414183|protein_coding|15/18|c.1595+7A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|zinc_finger_region:RanBP2-type|ENST00000397938|protein_coding|15/17|c.1580+7A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|zinc_finger_region:RanBP2-type|ENST00000397938|protein_coding|14/17|c.1580+7A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|zinc_finger_region:RanBP2-type|ENST00000406548|protein_coding|15/17|c.1577+7A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|zinc_finger_region:RanBP2-type|ENST00000406548|protein_coding|14/17|c.1577+7A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|zinc_finger_region:RanBP2-type|ENST00000332035|protein_coding|14/16|c.1412+7A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|zinc_finger_region:RanBP2-type|ENST00000332035|protein_coding|13/16|c.1412+7A>G||||||,G|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483629|retained_intron|5/7|n.783A>G||||||,G|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000490315|retained_intron|3/4|n.1137A>G|||||| 22 29694913 . C T . . ANN=T|sequence_feature|LOW|EWSR1|ENSG00000182944|zinc_finger_region:RanBP2-type|ENST00000414183|protein_coding|16/18|c.1595+28C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|zinc_finger_region:RanBP2-type|ENST00000414183|protein_coding|15/18|c.1595+28C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|zinc_finger_region:RanBP2-type|ENST00000397938|protein_coding|15/17|c.1580+28C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|zinc_finger_region:RanBP2-type|ENST00000397938|protein_coding|14/17|c.1580+28C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|zinc_finger_region:RanBP2-type|ENST00000406548|protein_coding|15/17|c.1577+28C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|zinc_finger_region:RanBP2-type|ENST00000406548|protein_coding|14/17|c.1577+28C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|zinc_finger_region:RanBP2-type|ENST00000332035|protein_coding|14/16|c.1412+28C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|zinc_finger_region:RanBP2-type|ENST00000332035|protein_coding|13/16|c.1412+28C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding|15/17|c.1595+28C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding|12/14|c.1361+28C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding|14/16|c.1580+28C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding|14/16|c.1577+28C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding|12/14|c.1466+28C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding|13/15|c.1412+28C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000479135|retained_intron|9/11|n.6530+28C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000469669|retained_intron|5/7|n.1875+28C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000360091|protein_coding|5/7|c.545+28C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483629|retained_intron|5/7|n.804C>T||||||,T|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000490315|retained_intron|3/4|n.1158C>T|||||| 22 29694917 . A G . . ANN=G|sequence_feature|LOW|EWSR1|ENSG00000182944|zinc_finger_region:RanBP2-type|ENST00000414183|protein_coding|16/18|c.1595+32A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|zinc_finger_region:RanBP2-type|ENST00000414183|protein_coding|15/18|c.1595+32A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|zinc_finger_region:RanBP2-type|ENST00000397938|protein_coding|15/17|c.1580+32A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|zinc_finger_region:RanBP2-type|ENST00000397938|protein_coding|14/17|c.1580+32A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|zinc_finger_region:RanBP2-type|ENST00000406548|protein_coding|15/17|c.1577+32A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|zinc_finger_region:RanBP2-type|ENST00000406548|protein_coding|14/17|c.1577+32A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|zinc_finger_region:RanBP2-type|ENST00000332035|protein_coding|14/16|c.1412+32A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|zinc_finger_region:RanBP2-type|ENST00000332035|protein_coding|13/16|c.1412+32A>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding|15/17|c.1595+32A>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding|12/14|c.1361+32A>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding|14/16|c.1580+32A>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding|14/16|c.1577+32A>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding|12/14|c.1466+32A>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding|13/15|c.1412+32A>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000479135|retained_intron|9/11|n.6530+32A>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000469669|retained_intron|5/7|n.1875+32A>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000360091|protein_coding|5/7|c.545+32A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,G|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483629|retained_intron|5/7|n.808A>G||||||,G|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000490315|retained_intron|3/4|n.1162A>G|||||| 22 29695192 . G A . . ANN=A|missense_variant|MODERATE|EWSR1|ENSG00000182944|transcript|ENST00000360091|protein_coding|6/8|c.553G>A|p.Gly185Ser|554/1289|553/924|185/307||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|EWSR1|ENSG00000182944|zinc_finger_region:RanBP2-type|ENST00000414183|protein_coding|16/18|c.1596-32G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|zinc_finger_region:RanBP2-type|ENST00000414183|protein_coding|15/18|c.1596-32G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|zinc_finger_region:RanBP2-type|ENST00000397938|protein_coding|15/17|c.1581-32G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|zinc_finger_region:RanBP2-type|ENST00000397938|protein_coding|14/17|c.1581-32G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|zinc_finger_region:RanBP2-type|ENST00000406548|protein_coding|15/17|c.1578-32G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|zinc_finger_region:RanBP2-type|ENST00000406548|protein_coding|14/17|c.1578-32G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|zinc_finger_region:RanBP2-type|ENST00000332035|protein_coding|14/16|c.1413-32G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|zinc_finger_region:RanBP2-type|ENST00000332035|protein_coding|13/16|c.1413-32G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding|15/17|c.1596-32G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding|12/14|c.1362-32G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding|14/16|c.1581-32G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding|14/16|c.1578-32G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding|12/14|c.1467-32G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding|13/15|c.1413-32G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000479135|retained_intron|9/11|n.6531-32G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000469669|retained_intron|5/7|n.1876-32G>A||||||,A|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483629|retained_intron|5/7|n.1083G>A||||||,A|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000490315|retained_intron|3/4|n.1437G>A|||||| 22 29695545 . G A . . ANN=A|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000414183|protein_coding|16/18|c.1694-44G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000414183|protein_coding|17/18|c.1694-44G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000397938|protein_coding|15/17|c.1679-44G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000397938|protein_coding|16/17|c.1679-44G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000406548|protein_coding|15/17|c.1676-44G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000406548|protein_coding|16/17|c.1676-44G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000332035|protein_coding|14/16|c.1511-44G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000332035|protein_coding|15/16|c.1511-44G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding|16/17|c.1694-44G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding|13/14|c.1460-44G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding|15/16|c.1679-44G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding|15/16|c.1676-44G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding|13/14|c.1565-44G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding|14/15|c.1511-44G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000479135|retained_intron|10/11|n.6629-44G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000469669|retained_intron|6/7|n.1974-44G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483629|retained_intron|5/6|n.1162-44G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000360091|protein_coding|6/7|c.632-44G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000490315|retained_intron|3/4|n.1790G>A|||||| 22 29695737 . C T . . ANN=T|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding|17/18|c.1842C>T|p.Gly614Gly|1863/2189|1842/1986|614/661||,T|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding|14/15|c.1608C>T|p.Gly536Gly|1936/2443|1608/1752|536/583||,T|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding|16/17|c.1827C>T|p.Gly609Gly|2146/2654|1827/1971|609/656||,T|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding|16/17|c.1824C>T|p.Gly608Gly|1888/2207|1824/1968|608/655||,T|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding|14/15|c.1713C>T|p.Gly571Gly|1759/2267|1713/1857|571/618||,T|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding|15/16|c.1659C>T|p.Gly553Gly|1670/1989|1659/1803|553/600||,T|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000360091|protein_coding|7/8|c.780C>T|p.Gly260Gly|781/1289|780/924|260/307||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000414183|protein_coding|16/18|c.1842C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000414183|protein_coding|17/18|c.1842C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000397938|protein_coding|15/17|c.1827C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000397938|protein_coding|16/17|c.1827C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000406548|protein_coding|15/17|c.1824C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000406548|protein_coding|16/17|c.1824C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000332035|protein_coding|14/16|c.1659C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000332035|protein_coding|15/16|c.1659C>T||||||,T|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000479135|retained_intron|11/12|n.6777C>T||||||,T|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000469669|retained_intron|7/8|n.2122C>T||||||,T|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483629|retained_intron|6/7|n.1310C>T||||||,T|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000490315|retained_intron|3/4|n.1982C>T|||||| 22 29695761 . C T . . ANN=T|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding|17/18|c.1866C>T|p.Gly622Gly|1887/2189|1866/1986|622/661||,T|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding|14/15|c.1632C>T|p.Gly544Gly|1960/2443|1632/1752|544/583||,T|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding|16/17|c.1851C>T|p.Gly617Gly|2170/2654|1851/1971|617/656||,T|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding|16/17|c.1848C>T|p.Gly616Gly|1912/2207|1848/1968|616/655||,T|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding|14/15|c.1737C>T|p.Gly579Gly|1783/2267|1737/1857|579/618||,T|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding|15/16|c.1683C>T|p.Gly561Gly|1694/1989|1683/1803|561/600||,T|synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000360091|protein_coding|7/8|c.804C>T|p.Gly268Gly|805/1289|804/924|268/307||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000414183|protein_coding|16/18|c.1866C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000414183|protein_coding|17/18|c.1866C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000397938|protein_coding|15/17|c.1851C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000397938|protein_coding|16/17|c.1851C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000406548|protein_coding|15/17|c.1848C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000406548|protein_coding|16/17|c.1848C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000332035|protein_coding|14/16|c.1683C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000332035|protein_coding|15/16|c.1683C>T||||||,T|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000479135|retained_intron|11/12|n.6801C>T||||||,T|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000469669|retained_intron|7/8|n.2146C>T||||||,T|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483629|retained_intron|6/7|n.1334C>T||||||,T|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000490315|retained_intron|3/4|n.2006C>T|||||| 22 29695865 . G A . . ANN=A|sequence_feature|LOW|EWSR1|ENSG00000182944|short_sequence_motif:Nuclear_localization_signal|ENST00000414183|protein_coding|17/18|c.1946+24G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|short_sequence_motif:Nuclear_localization_signal|ENST00000414183|protein_coding|18/18|c.1946+24G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|short_sequence_motif:Nuclear_localization_signal|ENST00000397938|protein_coding|16/17|c.1931+24G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|short_sequence_motif:Nuclear_localization_signal|ENST00000397938|protein_coding|17/17|c.1931+24G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|short_sequence_motif:Nuclear_localization_signal|ENST00000406548|protein_coding|16/17|c.1928+24G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|short_sequence_motif:Nuclear_localization_signal|ENST00000406548|protein_coding|17/17|c.1928+24G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|short_sequence_motif:Nuclear_localization_signal|ENST00000332035|protein_coding|15/16|c.1763+24G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|short_sequence_motif:Nuclear_localization_signal|ENST00000332035|protein_coding|16/16|c.1763+24G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding|17/17|c.1946+24G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding|14/14|c.1712+24G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding|16/16|c.1931+24G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding|16/16|c.1928+24G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding|14/14|c.1817+24G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding|15/15|c.1763+24G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000479135|retained_intron|11/11|n.6881+24G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000469669|retained_intron|7/7|n.2226+24G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483629|retained_intron|6/6|n.1414+24G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000360091|protein_coding|7/7|c.884+24G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000490315|retained_intron|3/3|n.2086+24G>A|||||| 22 29695871 . C T . . ANN=T|sequence_feature|LOW|EWSR1|ENSG00000182944|short_sequence_motif:Nuclear_localization_signal|ENST00000414183|protein_coding|17/18|c.1946+30C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|short_sequence_motif:Nuclear_localization_signal|ENST00000414183|protein_coding|18/18|c.1946+30C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|short_sequence_motif:Nuclear_localization_signal|ENST00000397938|protein_coding|16/17|c.1931+30C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|short_sequence_motif:Nuclear_localization_signal|ENST00000397938|protein_coding|17/17|c.1931+30C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|short_sequence_motif:Nuclear_localization_signal|ENST00000406548|protein_coding|16/17|c.1928+30C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|short_sequence_motif:Nuclear_localization_signal|ENST00000406548|protein_coding|17/17|c.1928+30C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|short_sequence_motif:Nuclear_localization_signal|ENST00000332035|protein_coding|15/16|c.1763+30C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|short_sequence_motif:Nuclear_localization_signal|ENST00000332035|protein_coding|16/16|c.1763+30C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding|17/17|c.1946+30C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding|14/14|c.1712+30C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding|16/16|c.1931+30C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding|16/16|c.1928+30C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding|14/14|c.1817+30C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding|15/15|c.1763+30C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000479135|retained_intron|11/11|n.6881+30C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000469669|retained_intron|7/7|n.2226+30C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483629|retained_intron|6/6|n.1414+30C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000360091|protein_coding|7/7|c.884+30C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000490315|retained_intron|3/3|n.2086+30C>T|||||| 22 29695872 . G A . . ANN=A|sequence_feature|LOW|EWSR1|ENSG00000182944|short_sequence_motif:Nuclear_localization_signal|ENST00000414183|protein_coding|17/18|c.1946+31G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|short_sequence_motif:Nuclear_localization_signal|ENST00000414183|protein_coding|18/18|c.1946+31G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|short_sequence_motif:Nuclear_localization_signal|ENST00000397938|protein_coding|16/17|c.1931+31G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|short_sequence_motif:Nuclear_localization_signal|ENST00000397938|protein_coding|17/17|c.1931+31G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|short_sequence_motif:Nuclear_localization_signal|ENST00000406548|protein_coding|16/17|c.1928+31G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|short_sequence_motif:Nuclear_localization_signal|ENST00000406548|protein_coding|17/17|c.1928+31G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|short_sequence_motif:Nuclear_localization_signal|ENST00000332035|protein_coding|15/16|c.1763+31G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|short_sequence_motif:Nuclear_localization_signal|ENST00000332035|protein_coding|16/16|c.1763+31G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding|17/17|c.1946+31G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding|14/14|c.1712+31G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding|16/16|c.1931+31G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding|16/16|c.1928+31G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding|14/14|c.1817+31G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding|15/15|c.1763+31G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000479135|retained_intron|11/11|n.6881+31G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000469669|retained_intron|7/7|n.2226+31G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483629|retained_intron|6/6|n.1414+31G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000360091|protein_coding|7/7|c.884+31G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000490315|retained_intron|3/3|n.2086+31G>A|||||| 22 29695875 . A G . . ANN=G|sequence_feature|LOW|EWSR1|ENSG00000182944|short_sequence_motif:Nuclear_localization_signal|ENST00000414183|protein_coding|17/18|c.1946+34A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|short_sequence_motif:Nuclear_localization_signal|ENST00000414183|protein_coding|18/18|c.1946+34A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|short_sequence_motif:Nuclear_localization_signal|ENST00000397938|protein_coding|16/17|c.1931+34A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|short_sequence_motif:Nuclear_localization_signal|ENST00000397938|protein_coding|17/17|c.1931+34A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|short_sequence_motif:Nuclear_localization_signal|ENST00000406548|protein_coding|16/17|c.1928+34A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|short_sequence_motif:Nuclear_localization_signal|ENST00000406548|protein_coding|17/17|c.1928+34A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|short_sequence_motif:Nuclear_localization_signal|ENST00000332035|protein_coding|15/16|c.1763+34A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|short_sequence_motif:Nuclear_localization_signal|ENST00000332035|protein_coding|16/16|c.1763+34A>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding|17/17|c.1946+34A>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding|14/14|c.1712+34A>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding|16/16|c.1931+34A>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding|16/16|c.1928+34A>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding|14/14|c.1817+34A>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding|15/15|c.1763+34A>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000479135|retained_intron|11/11|n.6881+34A>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000469669|retained_intron|7/7|n.2226+34A>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483629|retained_intron|6/6|n.1414+34A>G||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000360091|protein_coding|7/7|c.884+34A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000490315|retained_intron|3/3|n.2086+34A>G|||||| 22 29696069 . C T . . ANN=T|sequence_feature|LOW|EWSR1|ENSG00000182944|short_sequence_motif:Nuclear_localization_signal|ENST00000414183|protein_coding|17/18|c.1947-43C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|short_sequence_motif:Nuclear_localization_signal|ENST00000414183|protein_coding|18/18|c.1947-43C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|short_sequence_motif:Nuclear_localization_signal|ENST00000397938|protein_coding|16/17|c.1932-43C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|short_sequence_motif:Nuclear_localization_signal|ENST00000397938|protein_coding|17/17|c.1932-43C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|short_sequence_motif:Nuclear_localization_signal|ENST00000406548|protein_coding|16/17|c.1929-43C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|short_sequence_motif:Nuclear_localization_signal|ENST00000406548|protein_coding|17/17|c.1929-43C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|short_sequence_motif:Nuclear_localization_signal|ENST00000332035|protein_coding|15/16|c.1764-43C>T||||||,T|sequence_feature|LOW|EWSR1|ENSG00000182944|short_sequence_motif:Nuclear_localization_signal|ENST00000332035|protein_coding|16/16|c.1764-43C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding|17/17|c.1947-43C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding|14/14|c.1713-43C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding|16/16|c.1932-43C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding|16/16|c.1929-43C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding|14/14|c.1818-43C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding|15/15|c.1764-43C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000479135|retained_intron|11/11|n.6882-43C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000469669|retained_intron|7/7|n.2227-43C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483629|retained_intron|6/6|n.1415-43C>T||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000360091|protein_coding|7/7|c.885-43C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000490315|retained_intron|3/3|n.2087-43C>T|||||| 22 29696085 . A C . . ANN=C|sequence_feature|LOW|EWSR1|ENSG00000182944|short_sequence_motif:Nuclear_localization_signal|ENST00000414183|protein_coding|17/18|c.1947-27A>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|short_sequence_motif:Nuclear_localization_signal|ENST00000414183|protein_coding|18/18|c.1947-27A>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|short_sequence_motif:Nuclear_localization_signal|ENST00000397938|protein_coding|16/17|c.1932-27A>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|short_sequence_motif:Nuclear_localization_signal|ENST00000397938|protein_coding|17/17|c.1932-27A>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|short_sequence_motif:Nuclear_localization_signal|ENST00000406548|protein_coding|16/17|c.1929-27A>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|short_sequence_motif:Nuclear_localization_signal|ENST00000406548|protein_coding|17/17|c.1929-27A>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|short_sequence_motif:Nuclear_localization_signal|ENST00000332035|protein_coding|15/16|c.1764-27A>C||||||,C|sequence_feature|LOW|EWSR1|ENSG00000182944|short_sequence_motif:Nuclear_localization_signal|ENST00000332035|protein_coding|16/16|c.1764-27A>C||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding|17/17|c.1947-27A>C||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding|14/14|c.1713-27A>C||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding|16/16|c.1932-27A>C||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding|16/16|c.1929-27A>C||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding|14/14|c.1818-27A>C||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding|15/15|c.1764-27A>C||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000479135|retained_intron|11/11|n.6882-27A>C||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000469669|retained_intron|7/7|n.2227-27A>C||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483629|retained_intron|6/6|n.1415-27A>C||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000360091|protein_coding|7/7|c.885-27A>C||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000490315|retained_intron|3/3|n.2087-27A>C|||||| 22 29704125 . C T . . ANN=T|synonymous_variant|LOW|GAS2L1|ENSG00000185340|transcript|ENST00000403764|protein_coding|2/6|c.30C>T|p.Gly10Gly|179/2482|30/1614|10/537||,T|synonymous_variant|LOW|GAS2L1|ENSG00000185340|transcript|ENST00000407647|protein_coding|2/6|c.30C>T|p.Gly10Gly|621/2924|30/1614|10/537||,T|synonymous_variant|LOW|GAS2L1|ENSG00000185340|transcript|ENST00000416823|protein_coding|3/3|c.30C>T|p.Gly10Gly|360/745|30/415|10/137||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|GAS2L1|ENSG00000185340|transcript|ENST00000428622|protein_coding|2/2|c.30C>T|p.Gly10Gly|169/569|30/430|10/142||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|GAS2L1|ENSG00000185340|transcript|ENST00000360113|protein_coding|2/5|c.30C>T|p.Gly10Gly|180/2308|30/990|10/329||,T|synonymous_variant|LOW|GAS2L1|ENSG00000185340|transcript|ENST00000406549|protein_coding|2/6|c.30C>T|p.Gly10Gly|180/1803|30/1365|10/454||,T|synonymous_variant|LOW|GAS2L1|ENSG00000185340|transcript|ENST00000341313|protein_coding|2/5|c.30C>T|p.Gly10Gly|162/2237|30/1014|10/337||,T|synonymous_variant|LOW|GAS2L1|ENSG00000185340|transcript|ENST00000407854|protein_coding|2/6|c.30C>T|p.Gly10Gly|178/2481|30/1614|10/537||,T|synonymous_variant|LOW|GAS2L1|ENSG00000185340|transcript|ENST00000471961|protein_coding|1/5|c.30C>T|p.Gly10Gly|1078/3381|30/1614|10/537||,T|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000491016|retained_intron||n.-1C>T|||||2144|,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000216101|protein_coding||c.*1122G>A|||||4797|,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000487341|retained_intron||n.*550C>T|||||336|,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000401450|protein_coding||c.*794G>A|||||4797| 22 29704131 . G A . . ANN=A|synonymous_variant|LOW|GAS2L1|ENSG00000185340|transcript|ENST00000403764|protein_coding|2/6|c.36G>A|p.Ala12Ala|185/2482|36/1614|12/537||,A|synonymous_variant|LOW|GAS2L1|ENSG00000185340|transcript|ENST00000407647|protein_coding|2/6|c.36G>A|p.Ala12Ala|627/2924|36/1614|12/537||,A|synonymous_variant|LOW|GAS2L1|ENSG00000185340|transcript|ENST00000416823|protein_coding|3/3|c.36G>A|p.Ala12Ala|366/745|36/415|12/137||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|GAS2L1|ENSG00000185340|transcript|ENST00000428622|protein_coding|2/2|c.36G>A|p.Ala12Ala|175/569|36/430|12/142||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|GAS2L1|ENSG00000185340|transcript|ENST00000360113|protein_coding|2/5|c.36G>A|p.Ala12Ala|186/2308|36/990|12/329||,A|synonymous_variant|LOW|GAS2L1|ENSG00000185340|transcript|ENST00000406549|protein_coding|2/6|c.36G>A|p.Ala12Ala|186/1803|36/1365|12/454||,A|synonymous_variant|LOW|GAS2L1|ENSG00000185340|transcript|ENST00000341313|protein_coding|2/5|c.36G>A|p.Ala12Ala|168/2237|36/1014|12/337||,A|synonymous_variant|LOW|GAS2L1|ENSG00000185340|transcript|ENST00000407854|protein_coding|2/6|c.36G>A|p.Ala12Ala|184/2481|36/1614|12/537||,A|synonymous_variant|LOW|GAS2L1|ENSG00000185340|transcript|ENST00000471961|protein_coding|1/5|c.36G>A|p.Ala12Ala|1084/3381|36/1614|12/537||,A|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000491016|retained_intron||n.-1G>A|||||2138|,A|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000216101|protein_coding||c.*1122C>T|||||4791|,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000487341|retained_intron||n.*550G>A|||||342|,A|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000401450|protein_coding||c.*794C>T|||||4791| 22 29704164 . G A . . ANN=A|synonymous_variant|LOW|GAS2L1|ENSG00000185340|transcript|ENST00000403764|protein_coding|2/6|c.69G>A|p.Glu23Glu|218/2482|69/1614|23/537||,A|synonymous_variant|LOW|GAS2L1|ENSG00000185340|transcript|ENST00000407647|protein_coding|2/6|c.69G>A|p.Glu23Glu|660/2924|69/1614|23/537||,A|synonymous_variant|LOW|GAS2L1|ENSG00000185340|transcript|ENST00000416823|protein_coding|3/3|c.69G>A|p.Glu23Glu|399/745|69/415|23/137||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|GAS2L1|ENSG00000185340|transcript|ENST00000428622|protein_coding|2/2|c.69G>A|p.Glu23Glu|208/569|69/430|23/142||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|GAS2L1|ENSG00000185340|transcript|ENST00000360113|protein_coding|2/5|c.69G>A|p.Glu23Glu|219/2308|69/990|23/329||,A|synonymous_variant|LOW|GAS2L1|ENSG00000185340|transcript|ENST00000406549|protein_coding|2/6|c.69G>A|p.Glu23Glu|219/1803|69/1365|23/454||,A|synonymous_variant|LOW|GAS2L1|ENSG00000185340|transcript|ENST00000341313|protein_coding|2/5|c.69G>A|p.Glu23Glu|201/2237|69/1014|23/337||,A|synonymous_variant|LOW|GAS2L1|ENSG00000185340|transcript|ENST00000407854|protein_coding|2/6|c.69G>A|p.Glu23Glu|217/2481|69/1614|23/537||,A|synonymous_variant|LOW|GAS2L1|ENSG00000185340|transcript|ENST00000471961|protein_coding|1/5|c.69G>A|p.Glu23Glu|1117/3381|69/1614|23/537||,A|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000491016|retained_intron||n.-1G>A|||||2105|,A|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000216101|protein_coding||c.*1122C>T|||||4758|,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000487341|retained_intron||n.*550G>A|||||375|,A|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000401450|protein_coding||c.*794C>T|||||4758| 22 29704255 . A T . . ANN=T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000403764|protein_coding|2/6|c.160A>T|p.Thr54Ser|309/2482|160/1614|54/537||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000407647|protein_coding|2/6|c.160A>T|p.Thr54Ser|751/2924|160/1614|54/537||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000416823|protein_coding|3/3|c.160A>T|p.Thr54Ser|490/745|160/415|54/137||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000428622|protein_coding|2/2|c.160A>T|p.Thr54Ser|299/569|160/430|54/142||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000360113|protein_coding|2/5|c.160A>T|p.Thr54Ser|310/2308|160/990|54/329||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000406549|protein_coding|2/6|c.160A>T|p.Thr54Ser|310/1803|160/1365|54/454||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000341313|protein_coding|2/5|c.160A>T|p.Thr54Ser|292/2237|160/1014|54/337||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000407854|protein_coding|2/6|c.160A>T|p.Thr54Ser|308/2481|160/1614|54/537||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000471961|protein_coding|1/5|c.160A>T|p.Thr54Ser|1208/3381|160/1614|54/537||,T|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:CH|ENST00000360113|protein_coding|2/5|c.160A>T||||||,T|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:CH|ENST00000406549|protein_coding|2/6|c.160A>T||||||,T|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:CH|ENST00000341313|protein_coding|2/5|c.160A>T||||||,T|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000491016|retained_intron||n.-1A>T|||||2014|,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000216101|protein_coding||c.*1122T>A|||||4667|,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000487341|retained_intron||n.*550A>T|||||466|,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000401450|protein_coding||c.*794T>A|||||4667| 22 29704333 . C T . . ANN=T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000403764|protein_coding|2/6|c.238C>T|p.Arg80Cys|387/2482|238/1614|80/537||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000407647|protein_coding|2/6|c.238C>T|p.Arg80Cys|829/2924|238/1614|80/537||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000416823|protein_coding|3/3|c.238C>T|p.Arg80Cys|568/745|238/415|80/137||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000428622|protein_coding|2/2|c.238C>T|p.Arg80Cys|377/569|238/430|80/142||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000360113|protein_coding|2/5|c.238C>T|p.Arg80Cys|388/2308|238/990|80/329||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000406549|protein_coding|2/6|c.238C>T|p.Arg80Cys|388/1803|238/1365|80/454||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000341313|protein_coding|2/5|c.238C>T|p.Arg80Cys|370/2237|238/1014|80/337||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000407854|protein_coding|2/6|c.238C>T|p.Arg80Cys|386/2481|238/1614|80/537||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000471961|protein_coding|1/5|c.238C>T|p.Arg80Cys|1286/3381|238/1614|80/537||,T|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:CH|ENST00000360113|protein_coding|2/5|c.238C>T||||||,T|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:CH|ENST00000406549|protein_coding|2/6|c.238C>T||||||,T|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:CH|ENST00000341313|protein_coding|2/5|c.238C>T||||||,T|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000491016|retained_intron||n.-1C>T|||||1936|,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000216101|protein_coding||c.*1122G>A|||||4589|,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000487341|retained_intron||n.*550C>T|||||544|,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000401450|protein_coding||c.*794G>A|||||4589| 22 29704409 . C T . . ANN=T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000403764|protein_coding|2/6|c.314C>T|p.Thr105Ile|463/2482|314/1614|105/537||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000407647|protein_coding|2/6|c.314C>T|p.Thr105Ile|905/2924|314/1614|105/537||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000416823|protein_coding|3/3|c.314C>T|p.Thr105Ile|644/745|314/415|105/137||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000428622|protein_coding|2/2|c.314C>T|p.Thr105Ile|453/569|314/430|105/142||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000360113|protein_coding|2/5|c.314C>T|p.Thr105Ile|464/2308|314/990|105/329||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000406549|protein_coding|2/6|c.314C>T|p.Thr105Ile|464/1803|314/1365|105/454||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000341313|protein_coding|2/5|c.314C>T|p.Thr105Ile|446/2237|314/1014|105/337||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000407854|protein_coding|2/6|c.314C>T|p.Thr105Ile|462/2481|314/1614|105/537||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000471961|protein_coding|1/5|c.314C>T|p.Thr105Ile|1362/3381|314/1614|105/537||,T|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:CH|ENST00000360113|protein_coding|2/5|c.314C>T||||||,T|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:CH|ENST00000406549|protein_coding|2/6|c.314C>T||||||,T|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:CH|ENST00000341313|protein_coding|2/5|c.314C>T||||||,T|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000491016|retained_intron||n.-1C>T|||||1860|,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000216101|protein_coding||c.*1122G>A|||||4513|,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000487341|retained_intron||n.*550C>T|||||620|,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000401450|protein_coding||c.*794G>A|||||4513| 22 29704627 . C T . . ANN=T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000403764|protein_coding|2/6|c.532C>T|p.Pro178Ser|681/2482|532/1614|178/537||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000407647|protein_coding|2/6|c.532C>T|p.Pro178Ser|1123/2924|532/1614|178/537||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000360113|protein_coding|2/5|c.532C>T|p.Pro178Ser|682/2308|532/990|178/329||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000406549|protein_coding|2/6|c.532C>T|p.Pro178Ser|682/1803|532/1365|178/454||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000341313|protein_coding|2/5|c.532C>T|p.Pro178Ser|664/2237|532/1014|178/337||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000407854|protein_coding|2/6|c.532C>T|p.Pro178Ser|680/2481|532/1614|178/537||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000471961|protein_coding|1/5|c.532C>T|p.Pro178Ser|1580/3381|532/1614|178/537||,T|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000491016|retained_intron||n.-1C>T|||||1642|,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000216101|protein_coding||c.*1122G>A|||||4295|,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000416823|protein_coding||c.*745C>T|||||117|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000428622|protein_coding||c.*569C>T|||||102|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000487341|retained_intron||n.*550C>T|||||838|,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000401450|protein_coding||c.*794G>A|||||4295|,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000608559|processed_transcript||n.*562G>A|||||4865|,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000474590|processed_transcript||n.*538G>A|||||4897| 22 29704642 . G A . . ANN=A|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000403764|protein_coding|2/6|c.547G>A|p.Asp183Asn|696/2482|547/1614|183/537||,A|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000407647|protein_coding|2/6|c.547G>A|p.Asp183Asn|1138/2924|547/1614|183/537||,A|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000360113|protein_coding|2/5|c.547G>A|p.Asp183Asn|697/2308|547/990|183/329||,A|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000406549|protein_coding|2/6|c.547G>A|p.Asp183Asn|697/1803|547/1365|183/454||,A|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000341313|protein_coding|2/5|c.547G>A|p.Asp183Asn|679/2237|547/1014|183/337||,A|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000407854|protein_coding|2/6|c.547G>A|p.Asp183Asn|695/2481|547/1614|183/537||,A|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000471961|protein_coding|1/5|c.547G>A|p.Asp183Asn|1595/3381|547/1614|183/537||,A|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000491016|retained_intron||n.-1G>A|||||1627|,A|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000216101|protein_coding||c.*1122C>T|||||4280|,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000416823|protein_coding||c.*745G>A|||||132|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000428622|protein_coding||c.*569G>A|||||117|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000487341|retained_intron||n.*550G>A|||||853|,A|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000401450|protein_coding||c.*794C>T|||||4280|,A|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000608559|processed_transcript||n.*562C>T|||||4850|,A|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000474590|processed_transcript||n.*538C>T|||||4882| 22 29704662 . C G . . ANN=G|synonymous_variant|LOW|GAS2L1|ENSG00000185340|transcript|ENST00000403764|protein_coding|2/6|c.567C>G|p.Pro189Pro|716/2482|567/1614|189/537||,G|synonymous_variant|LOW|GAS2L1|ENSG00000185340|transcript|ENST00000407647|protein_coding|2/6|c.567C>G|p.Pro189Pro|1158/2924|567/1614|189/537||,G|synonymous_variant|LOW|GAS2L1|ENSG00000185340|transcript|ENST00000360113|protein_coding|2/5|c.567C>G|p.Pro189Pro|717/2308|567/990|189/329||,G|synonymous_variant|LOW|GAS2L1|ENSG00000185340|transcript|ENST00000406549|protein_coding|2/6|c.567C>G|p.Pro189Pro|717/1803|567/1365|189/454||,G|synonymous_variant|LOW|GAS2L1|ENSG00000185340|transcript|ENST00000341313|protein_coding|2/5|c.567C>G|p.Pro189Pro|699/2237|567/1014|189/337||,G|synonymous_variant|LOW|GAS2L1|ENSG00000185340|transcript|ENST00000407854|protein_coding|2/6|c.567C>G|p.Pro189Pro|715/2481|567/1614|189/537||,G|synonymous_variant|LOW|GAS2L1|ENSG00000185340|transcript|ENST00000471961|protein_coding|1/5|c.567C>G|p.Pro189Pro|1615/3381|567/1614|189/537||,G|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000491016|retained_intron||n.-1C>G|||||1607|,G|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000216101|protein_coding||c.*1122G>C|||||4260|,G|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000416823|protein_coding||c.*745C>G|||||152|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000428622|protein_coding||c.*569C>G|||||137|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000487341|retained_intron||n.*550C>G|||||873|,G|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000401450|protein_coding||c.*794G>C|||||4260|,G|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000608559|processed_transcript||n.*562G>C|||||4830|,G|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000474590|processed_transcript||n.*538G>C|||||4862| 22 29704688 . C T . . ANN=T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000403764|protein_coding|2/6|c.593C>T|p.Pro198Leu|742/2482|593/1614|198/537||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000407647|protein_coding|2/6|c.593C>T|p.Pro198Leu|1184/2924|593/1614|198/537||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000360113|protein_coding|2/5|c.593C>T|p.Pro198Leu|743/2308|593/990|198/329||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000406549|protein_coding|2/6|c.593C>T|p.Pro198Leu|743/1803|593/1365|198/454||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000341313|protein_coding|2/5|c.593C>T|p.Pro198Leu|725/2237|593/1014|198/337||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000407854|protein_coding|2/6|c.593C>T|p.Pro198Leu|741/2481|593/1614|198/537||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000471961|protein_coding|1/5|c.593C>T|p.Pro198Leu|1641/3381|593/1614|198/537||,T|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000491016|retained_intron||n.-1C>T|||||1581|,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000216101|protein_coding||c.*1122G>A|||||4234|,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000416823|protein_coding||c.*745C>T|||||178|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000428622|protein_coding||c.*569C>T|||||163|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000487341|retained_intron||n.*550C>T|||||899|,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000401450|protein_coding||c.*794G>A|||||4234|,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000608559|processed_transcript||n.*562G>A|||||4804|,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000474590|processed_transcript||n.*538G>A|||||4836| 22 29704761 . G A . . ANN=A|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:GAR|ENST00000360113|protein_coding|2/5|c.633+33G>A||||||,A|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:GAR|ENST00000360113|protein_coding|4/5|c.633+33G>A||||||,A|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:GAR|ENST00000360113|protein_coding|3/5|c.633+33G>A||||||,A|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:GAR|ENST00000406549|protein_coding|2/6|c.633+33G>A||||||,A|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:GAR|ENST00000406549|protein_coding|4/6|c.633+33G>A||||||,A|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:GAR|ENST00000406549|protein_coding|3/6|c.633+33G>A||||||,A|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:GAR|ENST00000341313|protein_coding|2/5|c.633+33G>A||||||,A|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:GAR|ENST00000341313|protein_coding|4/5|c.633+33G>A||||||,A|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:GAR|ENST00000341313|protein_coding|3/5|c.633+33G>A||||||,A|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000491016|retained_intron||n.-1G>A|||||1508|,A|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000216101|protein_coding||c.*1122C>T|||||4161|,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000416823|protein_coding||c.*745G>A|||||251|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000428622|protein_coding||c.*569G>A|||||236|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000487341|retained_intron||n.*550G>A|||||972|,A|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000401450|protein_coding||c.*794C>T|||||4161|,A|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000608559|processed_transcript||n.*562C>T|||||4731|,A|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000474590|processed_transcript||n.*538C>T|||||4763|,A|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000403764|protein_coding|2/5|c.633+33G>A||||||,A|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000407647|protein_coding|2/5|c.633+33G>A||||||,A|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000360113|protein_coding|2/4|c.633+33G>A||||||,A|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000406549|protein_coding|2/5|c.633+33G>A||||||,A|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000341313|protein_coding|2/4|c.633+33G>A||||||,A|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000407854|protein_coding|2/5|c.633+33G>A||||||,A|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000471961|protein_coding|1/4|c.633+33G>A|||||| 22 29706514 . C G . . ANN=G|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000403764|protein_coding|3/6|c.719C>G|p.Ser240Trp|868/2482|719/1614|240/537||,G|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000407647|protein_coding|3/6|c.719C>G|p.Ser240Trp|1310/2924|719/1614|240/537||,G|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000360113|protein_coding|3/5|c.719C>G|p.Ser240Trp|869/2308|719/990|240/329||,G|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000406549|protein_coding|3/6|c.719C>G|p.Ser240Trp|869/1803|719/1365|240/454||,G|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000341313|protein_coding|3/5|c.719C>G|p.Ser240Trp|851/2237|719/1014|240/337||,G|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000407854|protein_coding|3/6|c.719C>G|p.Ser240Trp|867/2481|719/1614|240/537||,G|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000471961|protein_coding|2/5|c.719C>G|p.Ser240Trp|1767/3381|719/1614|240/537||,G|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:GAR|ENST00000360113|protein_coding|2/5|c.719C>G||||||,G|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:GAR|ENST00000360113|protein_coding|4/5|c.719C>G||||||,G|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:GAR|ENST00000360113|protein_coding|3/5|c.719C>G||||||,G|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:GAR|ENST00000406549|protein_coding|2/6|c.719C>G||||||,G|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:GAR|ENST00000406549|protein_coding|4/6|c.719C>G||||||,G|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:GAR|ENST00000406549|protein_coding|3/6|c.719C>G||||||,G|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:GAR|ENST00000341313|protein_coding|2/5|c.719C>G||||||,G|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:GAR|ENST00000341313|protein_coding|4/5|c.719C>G||||||,G|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:GAR|ENST00000341313|protein_coding|3/5|c.719C>G||||||,G|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000216101|protein_coding||c.*1122G>C|||||2408|,G|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000416823|protein_coding||c.*745C>G|||||2004|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000428622|protein_coding||c.*569C>G|||||1989|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000487341|retained_intron||n.*550C>G|||||2725|,G|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000401450|protein_coding||c.*794G>C|||||2408|,G|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000608559|processed_transcript||n.*562G>C|||||2978|,G|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000474590|processed_transcript||n.*538G>C|||||3010|,G|non_coding_exon_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000491016|retained_intron|1/3|n.246C>G|||||| 22 29706550 . G A . . ANN=A|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:GAR|ENST00000360113|protein_coding|2/5|c.741+14G>A||||||,A|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:GAR|ENST00000360113|protein_coding|4/5|c.741+14G>A||||||,A|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:GAR|ENST00000360113|protein_coding|3/5|c.741+14G>A||||||,A|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:GAR|ENST00000406549|protein_coding|2/6|c.741+14G>A||||||,A|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:GAR|ENST00000406549|protein_coding|4/6|c.741+14G>A||||||,A|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:GAR|ENST00000406549|protein_coding|3/6|c.741+14G>A||||||,A|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:GAR|ENST00000341313|protein_coding|2/5|c.741+14G>A||||||,A|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:GAR|ENST00000341313|protein_coding|4/5|c.741+14G>A||||||,A|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:GAR|ENST00000341313|protein_coding|3/5|c.741+14G>A||||||,A|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000216101|protein_coding||c.*1122C>T|||||2372|,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000416823|protein_coding||c.*745G>A|||||2040|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000428622|protein_coding||c.*569G>A|||||2025|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000487341|retained_intron||n.*550G>A|||||2761|,A|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000401450|protein_coding||c.*794C>T|||||2372|,A|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000608559|processed_transcript||n.*562C>T|||||2942|,A|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000474590|processed_transcript||n.*538C>T|||||2974|,A|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000403764|protein_coding|3/5|c.741+14G>A||||||,A|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000407647|protein_coding|3/5|c.741+14G>A||||||,A|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000360113|protein_coding|3/4|c.741+14G>A||||||,A|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000406549|protein_coding|3/5|c.741+14G>A||||||,A|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000341313|protein_coding|3/4|c.741+14G>A||||||,A|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000407854|protein_coding|3/5|c.741+14G>A||||||,A|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000471961|protein_coding|2/4|c.741+14G>A||||||,A|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000491016|retained_intron|1/2|n.268+14G>A|||||| 22 29706560 . C T . . ANN=T|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:GAR|ENST00000360113|protein_coding|2/5|c.741+24C>T||||||,T|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:GAR|ENST00000360113|protein_coding|4/5|c.741+24C>T||||||,T|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:GAR|ENST00000360113|protein_coding|3/5|c.741+24C>T||||||,T|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:GAR|ENST00000406549|protein_coding|2/6|c.741+24C>T||||||,T|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:GAR|ENST00000406549|protein_coding|4/6|c.741+24C>T||||||,T|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:GAR|ENST00000406549|protein_coding|3/6|c.741+24C>T||||||,T|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:GAR|ENST00000341313|protein_coding|2/5|c.741+24C>T||||||,T|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:GAR|ENST00000341313|protein_coding|4/5|c.741+24C>T||||||,T|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:GAR|ENST00000341313|protein_coding|3/5|c.741+24C>T||||||,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000216101|protein_coding||c.*1122G>A|||||2362|,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000416823|protein_coding||c.*745C>T|||||2050|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000428622|protein_coding||c.*569C>T|||||2035|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000487341|retained_intron||n.*550C>T|||||2771|,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000401450|protein_coding||c.*794G>A|||||2362|,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000608559|processed_transcript||n.*562G>A|||||2932|,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000474590|processed_transcript||n.*538G>A|||||2964|,T|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000403764|protein_coding|3/5|c.741+24C>T||||||,T|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000407647|protein_coding|3/5|c.741+24C>T||||||,T|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000360113|protein_coding|3/4|c.741+24C>T||||||,T|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000406549|protein_coding|3/5|c.741+24C>T||||||,T|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000341313|protein_coding|3/4|c.741+24C>T||||||,T|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000407854|protein_coding|3/5|c.741+24C>T||||||,T|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000471961|protein_coding|2/4|c.741+24C>T||||||,T|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000491016|retained_intron|1/2|n.268+24C>T|||||| 22 29706587 . G A . . ANN=A|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:GAR|ENST00000360113|protein_coding|2/5|c.742-41G>A||||||,A|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:GAR|ENST00000360113|protein_coding|4/5|c.742-41G>A||||||,A|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:GAR|ENST00000360113|protein_coding|3/5|c.742-41G>A||||||,A|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:GAR|ENST00000406549|protein_coding|2/6|c.742-41G>A||||||,A|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:GAR|ENST00000406549|protein_coding|4/6|c.742-41G>A||||||,A|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:GAR|ENST00000406549|protein_coding|3/6|c.742-41G>A||||||,A|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:GAR|ENST00000341313|protein_coding|2/5|c.742-41G>A||||||,A|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:GAR|ENST00000341313|protein_coding|4/5|c.742-41G>A||||||,A|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:GAR|ENST00000341313|protein_coding|3/5|c.742-41G>A||||||,A|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000216101|protein_coding||c.*1122C>T|||||2335|,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000416823|protein_coding||c.*745G>A|||||2077|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000428622|protein_coding||c.*569G>A|||||2062|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000487341|retained_intron||n.*550G>A|||||2798|,A|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000401450|protein_coding||c.*794C>T|||||2335|,A|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000608559|processed_transcript||n.*562C>T|||||2905|,A|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000474590|processed_transcript||n.*538C>T|||||2937|,A|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000403764|protein_coding|3/5|c.742-41G>A||||||,A|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000407647|protein_coding|3/5|c.742-41G>A||||||,A|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000360113|protein_coding|3/4|c.742-41G>A||||||,A|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000406549|protein_coding|3/5|c.742-41G>A||||||,A|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000341313|protein_coding|3/4|c.742-41G>A||||||,A|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000407854|protein_coding|3/5|c.742-41G>A||||||,A|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000471961|protein_coding|2/4|c.742-41G>A||||||,A|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000491016|retained_intron|1/2|n.269-41G>A|||||| 22 29706784 . C T . . ANN=T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000216101|protein_coding||c.*1122G>A|||||2138|,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000416823|protein_coding||c.*745C>T|||||2274|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000428622|protein_coding||c.*569C>T|||||2259|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000487341|retained_intron||n.*550C>T|||||2995|,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000401450|protein_coding||c.*794G>A|||||2138|,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000608559|processed_transcript||n.*562G>A|||||2708|,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000474590|processed_transcript||n.*538G>A|||||2740|,T|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000403764|protein_coding|4/5|c.839-33C>T||||||,T|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000407647|protein_coding|4/5|c.839-33C>T||||||,T|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000360113|protein_coding|4/4|c.838+60C>T||||||,T|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000406549|protein_coding|4/5|c.839-33C>T||||||,T|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000341313|protein_coding|4/4|c.839-33C>T||||||,T|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000407854|protein_coding|4/5|c.839-33C>T||||||,T|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000471961|protein_coding|3/4|c.839-33C>T||||||,T|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000491016|retained_intron|2/2|n.366-33C>T|||||| 22 29706796 . G GCCTGT . . ANN=CCTGT|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000216101|protein_coding||c.*1122_*1122dupACAGG|||||2125|,CCTGT|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000416823|protein_coding||c.*745_*745insCCTGT|||||2287|WARNING_TRANSCRIPT_INCOMPLETE,CCTGT|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000428622|protein_coding||c.*569_*569insCCTGT|||||2272|WARNING_TRANSCRIPT_INCOMPLETE,CCTGT|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000487341|retained_intron||n.*550_*550insCCTGT|||||3008|,CCTGT|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000401450|protein_coding||c.*794_*794dupACAGG|||||2125|,CCTGT|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000608559|processed_transcript||n.*562_*562dupACAGG|||||2695|,CCTGT|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000474590|processed_transcript||n.*538_*538dupACAGG|||||2727|,GTCCT|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000403764|protein_coding|4/5|c.839-17_839-13dupGTCCT||||||INFO_REALIGN_3_PRIME,GTCCT|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000407647|protein_coding|4/5|c.839-17_839-13dupGTCCT||||||INFO_REALIGN_3_PRIME,GTCCT|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000360113|protein_coding|4/4|c.838+76_838+80dupGTCCT||||||INFO_REALIGN_3_PRIME,GTCCT|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000406549|protein_coding|4/5|c.839-17_839-13dupGTCCT||||||INFO_REALIGN_3_PRIME,GTCCT|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000341313|protein_coding|4/4|c.839-17_839-13dupGTCCT||||||INFO_REALIGN_3_PRIME,GTCCT|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000407854|protein_coding|4/5|c.839-17_839-13dupGTCCT||||||INFO_REALIGN_3_PRIME,GTCCT|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000471961|protein_coding|3/4|c.839-17_839-13dupGTCCT||||||INFO_REALIGN_3_PRIME,GTCCT|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000491016|retained_intron|2/2|n.366-17_366-13dupGTCCT||||||INFO_REALIGN_3_PRIME 22 29706885 . C T . . ANN=T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000403764|protein_coding|5/6|c.907C>T|p.Arg303Cys|1056/2482|907/1614|303/537||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000407647|protein_coding|5/6|c.907C>T|p.Arg303Cys|1498/2924|907/1614|303/537||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000406549|protein_coding|5/6|c.907C>T|p.Arg303Cys|1057/1803|907/1365|303/454||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000341313|protein_coding|5/5|c.907C>T|p.Arg303Cys|1039/2237|907/1014|303/337||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000407854|protein_coding|5/6|c.907C>T|p.Arg303Cys|1055/2481|907/1614|303/537||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000471961|protein_coding|4/5|c.907C>T|p.Arg303Cys|1955/3381|907/1614|303/537||,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000216101|protein_coding||c.*1122G>A|||||2037|,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000416823|protein_coding||c.*745C>T|||||2375|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000428622|protein_coding||c.*569C>T|||||2360|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000487341|retained_intron||n.*550C>T|||||3096|,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000401450|protein_coding||c.*794G>A|||||2037|,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000608559|processed_transcript||n.*562G>A|||||2607|,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000474590|processed_transcript||n.*538G>A|||||2639|,T|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000360113|protein_coding|4/4|c.838+161C>T||||||,T|non_coding_exon_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000491016|retained_intron|3/3|n.434C>T|||||| 22 29706907 . G T . . ANN=T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000403764|protein_coding|5/6|c.929G>T|p.Gly310Val|1078/2482|929/1614|310/537||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000407647|protein_coding|5/6|c.929G>T|p.Gly310Val|1520/2924|929/1614|310/537||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000406549|protein_coding|5/6|c.929G>T|p.Gly310Val|1079/1803|929/1365|310/454||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000341313|protein_coding|5/5|c.929G>T|p.Gly310Val|1061/2237|929/1014|310/337||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000407854|protein_coding|5/6|c.929G>T|p.Gly310Val|1077/2481|929/1614|310/537||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000471961|protein_coding|4/5|c.929G>T|p.Gly310Val|1977/3381|929/1614|310/537||,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000216101|protein_coding||c.*1122C>A|||||2015|,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000416823|protein_coding||c.*745G>T|||||2397|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000428622|protein_coding||c.*569G>T|||||2382|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000487341|retained_intron||n.*550G>T|||||3118|,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000401450|protein_coding||c.*794C>A|||||2015|,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000608559|processed_transcript||n.*562C>A|||||2585|,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000474590|processed_transcript||n.*538C>A|||||2617|,T|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000360113|protein_coding|4/4|c.838+183G>T||||||,T|non_coding_exon_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000491016|retained_intron|3/3|n.456G>T|||||| 22 29706919 . G A . . ANN=A|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000403764|protein_coding|5/6|c.941G>A|p.Arg314Gln|1090/2482|941/1614|314/537||,A|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000407647|protein_coding|5/6|c.941G>A|p.Arg314Gln|1532/2924|941/1614|314/537||,A|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000406549|protein_coding|5/6|c.941G>A|p.Arg314Gln|1091/1803|941/1365|314/454||,A|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000341313|protein_coding|5/5|c.941G>A|p.Arg314Gln|1073/2237|941/1014|314/337||,A|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000407854|protein_coding|5/6|c.941G>A|p.Arg314Gln|1089/2481|941/1614|314/537||,A|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000471961|protein_coding|4/5|c.941G>A|p.Arg314Gln|1989/3381|941/1614|314/537||,A|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000216101|protein_coding||c.*1122C>T|||||2003|,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000416823|protein_coding||c.*745G>A|||||2409|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000428622|protein_coding||c.*569G>A|||||2394|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000487341|retained_intron||n.*550G>A|||||3130|,A|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000401450|protein_coding||c.*794C>T|||||2003|,A|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000608559|processed_transcript||n.*562C>T|||||2573|,A|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000474590|processed_transcript||n.*538C>T|||||2605|,A|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000360113|protein_coding|4/4|c.838+195G>A||||||,A|non_coding_exon_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000491016|retained_intron|3/3|n.468G>A|||||| 22 29706927 . C G . . ANN=G|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000403764|protein_coding|5/6|c.949C>G|p.Arg317Gly|1098/2482|949/1614|317/537||,G|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000407647|protein_coding|5/6|c.949C>G|p.Arg317Gly|1540/2924|949/1614|317/537||,G|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000406549|protein_coding|5/6|c.949C>G|p.Arg317Gly|1099/1803|949/1365|317/454||,G|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000341313|protein_coding|5/5|c.949C>G|p.Arg317Gly|1081/2237|949/1014|317/337||,G|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000407854|protein_coding|5/6|c.949C>G|p.Arg317Gly|1097/2481|949/1614|317/537||,G|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000471961|protein_coding|4/5|c.949C>G|p.Arg317Gly|1997/3381|949/1614|317/537||,G|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000216101|protein_coding||c.*1122G>C|||||1995|,G|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000416823|protein_coding||c.*745C>G|||||2417|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000428622|protein_coding||c.*569C>G|||||2402|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000487341|retained_intron||n.*550C>G|||||3138|,G|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000401450|protein_coding||c.*794G>C|||||1995|,G|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000608559|processed_transcript||n.*562G>C|||||2565|,G|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000474590|processed_transcript||n.*538G>C|||||2597|,G|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000360113|protein_coding|4/4|c.838+203C>G||||||,G|non_coding_exon_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000491016|retained_intron|3/3|n.476C>G|||||| 22 29709359 . G A . . ANN=A|synonymous_variant|LOW|RASL10A|ENSG00000100276|transcript|ENST00000216101|protein_coding|3/3|c.543C>T|p.Arg181Arg|1053/1490|543/612|181/203||,A|sequence_feature|LOW|RASL10A|ENSG00000100276|region_of_interest:Small_GTPase-like|ENST00000216101|protein_coding|2/3|c.543C>T||||||,A|sequence_feature|LOW|RASL10A|ENSG00000100276|region_of_interest:Small_GTPase-like|ENST00000216101|protein_coding|3/3|c.543C>T||||||,A|sequence_feature|LOW|RASL10A|ENSG00000100276|region_of_interest:Small_GTPase-like|ENST00000216101|protein_coding|1/3|c.543C>T||||||,A|3_prime_UTR_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000401450|protein_coding|2/2|c.*489C>T|||||489|,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000403764|protein_coding||c.*1763G>A|||||585|,A|downstream_gene_variant|MODIFIER|AC002059.10|ENSG00000273216|transcript|ENST00000608014|sense_intronic||n.*477C>T|||||3374|,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000407647|protein_coding||c.*2205G>A|||||585|,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000416823|protein_coding||c.*745G>A|||||4849|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000428622|protein_coding||c.*569G>A|||||4834|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000360113|protein_coding||c.*1140G>A|||||588|,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000406549|protein_coding||c.*1515G>A|||||585|,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000341313|protein_coding||c.*1146G>A|||||1276|,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000407854|protein_coding||c.*1762G>A|||||585|,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000471961|protein_coding||c.*2662G>A|||||585|,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000491016|retained_intron||n.*646G>A|||||2262|,A|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000608559|processed_transcript||n.*562C>T|||||133|,A|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000474590|processed_transcript||n.*538C>T|||||165| 22 29709518 . G T . . ANN=T|synonymous_variant|LOW|RASL10A|ENSG00000100276|transcript|ENST00000216101|protein_coding|3/3|c.384C>A|p.Gly128Gly|894/1490|384/612|128/203||,T|sequence_feature|LOW|RASL10A|ENSG00000100276|region_of_interest:Small_GTPase-like|ENST00000216101|protein_coding|2/3|c.384C>A||||||,T|sequence_feature|LOW|RASL10A|ENSG00000100276|region_of_interest:Small_GTPase-like|ENST00000216101|protein_coding|3/3|c.384C>A||||||,T|sequence_feature|LOW|RASL10A|ENSG00000100276|region_of_interest:Small_GTPase-like|ENST00000216101|protein_coding|1/3|c.384C>A||||||,T|3_prime_UTR_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000401450|protein_coding|2/2|c.*330C>A|||||330|,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000403764|protein_coding||c.*1763G>T|||||744|,T|downstream_gene_variant|MODIFIER|AC002059.10|ENSG00000273216|transcript|ENST00000608014|sense_intronic||n.*477C>A|||||3215|,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000407647|protein_coding||c.*2205G>T|||||744|,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000428622|protein_coding||c.*569G>T|||||4993|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000360113|protein_coding||c.*1140G>T|||||747|,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000406549|protein_coding||c.*1515G>T|||||744|,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000341313|protein_coding||c.*1146G>T|||||1435|,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000407854|protein_coding||c.*1762G>T|||||744|,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000471961|protein_coding||c.*2662G>T|||||744|,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000491016|retained_intron||n.*646G>T|||||2421|,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000474590|processed_transcript||n.*538C>A|||||6|,T|non_coding_exon_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000608559|processed_transcript|3/3|n.536C>A|||||| 22 29709601 . G A . . ANN=A|sequence_feature|LOW|RASL10A|ENSG00000100276|region_of_interest:Small_GTPase-like|ENST00000216101|protein_coding|2/3|c.345-44C>T||||||,A|sequence_feature|LOW|RASL10A|ENSG00000100276|region_of_interest:Small_GTPase-like|ENST00000216101|protein_coding|3/3|c.345-44C>T||||||,A|sequence_feature|LOW|RASL10A|ENSG00000100276|region_of_interest:Small_GTPase-like|ENST00000216101|protein_coding|1/3|c.345-44C>T||||||,A|3_prime_UTR_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000401450|protein_coding|2/2|c.*247C>T|||||247|,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000403764|protein_coding||c.*1763G>A|||||827|,A|downstream_gene_variant|MODIFIER|AC002059.10|ENSG00000273216|transcript|ENST00000608014|sense_intronic||n.*477C>T|||||3132|,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000407647|protein_coding||c.*2205G>A|||||827|,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000360113|protein_coding||c.*1140G>A|||||830|,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000406549|protein_coding||c.*1515G>A|||||827|,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000341313|protein_coding||c.*1146G>A|||||1518|,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000407854|protein_coding||c.*1762G>A|||||827|,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000471961|protein_coding||c.*2662G>A|||||827|,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000491016|retained_intron||n.*646G>A|||||2504|,A|intron_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000216101|protein_coding|2/2|c.345-44C>T||||||,A|intron_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000608559|processed_transcript|2/2|n.497-44C>T||||||,A|non_coding_exon_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000474590|processed_transcript|2/2|n.461C>T|||||| 22 29709804 . T A . . ANN=A|sequence_feature|LOW|RASL10A|ENSG00000100276|region_of_interest:Small_GTPase-like|ENST00000216101|protein_coding|2/3|c.344+48A>T||||||,A|sequence_feature|LOW|RASL10A|ENSG00000100276|region_of_interest:Small_GTPase-like|ENST00000216101|protein_coding|3/3|c.344+48A>T||||||,A|sequence_feature|LOW|RASL10A|ENSG00000100276|region_of_interest:Small_GTPase-like|ENST00000216101|protein_coding|1/3|c.344+48A>T||||||,A|3_prime_UTR_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000401450|protein_coding|2/2|c.*44A>T|||||44|,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000403764|protein_coding||c.*1763T>A|||||1030|,A|downstream_gene_variant|MODIFIER|AC002059.10|ENSG00000273216|transcript|ENST00000608014|sense_intronic||n.*477A>T|||||2929|,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000407647|protein_coding||c.*2205T>A|||||1030|,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000360113|protein_coding||c.*1140T>A|||||1033|,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000406549|protein_coding||c.*1515T>A|||||1030|,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000341313|protein_coding||c.*1146T>A|||||1721|,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000407854|protein_coding||c.*1762T>A|||||1030|,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000471961|protein_coding||c.*2662T>A|||||1030|,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000491016|retained_intron||n.*646T>A|||||2707|,A|intron_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000216101|protein_coding|2/2|c.344+48A>T||||||,A|intron_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000608559|processed_transcript|2/2|n.496+48A>T||||||,A|non_coding_exon_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000474590|processed_transcript|2/2|n.258A>T|||||| 22 29709844 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|RASL10A|ENSG00000100276|transcript|ENST00000216101|protein_coding|2/2|c.344+8C>T||||||,A|splice_region_variant&intron_variant|LOW|RASL10A|ENSG00000100276|transcript|ENST00000608559|processed_transcript|2/2|n.496+8C>T||||||,A|sequence_feature|LOW|RASL10A|ENSG00000100276|region_of_interest:Small_GTPase-like|ENST00000216101|protein_coding|2/3|c.344+8C>T||||||,A|sequence_feature|LOW|RASL10A|ENSG00000100276|region_of_interest:Small_GTPase-like|ENST00000216101|protein_coding|3/3|c.344+8C>T||||||,A|sequence_feature|LOW|RASL10A|ENSG00000100276|region_of_interest:Small_GTPase-like|ENST00000216101|protein_coding|1/3|c.344+8C>T||||||,A|3_prime_UTR_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000401450|protein_coding|2/2|c.*4C>T|||||4|,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000403764|protein_coding||c.*1763G>A|||||1070|,A|downstream_gene_variant|MODIFIER|AC002059.10|ENSG00000273216|transcript|ENST00000608014|sense_intronic||n.*477C>T|||||2889|,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000407647|protein_coding||c.*2205G>A|||||1070|,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000360113|protein_coding||c.*1140G>A|||||1073|,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000406549|protein_coding||c.*1515G>A|||||1070|,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000341313|protein_coding||c.*1146G>A|||||1761|,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000407854|protein_coding||c.*1762G>A|||||1070|,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000471961|protein_coding||c.*2662G>A|||||1070|,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000491016|retained_intron||n.*646G>A|||||2747|,A|non_coding_exon_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000474590|processed_transcript|2/2|n.218C>T|||||| 22 29709989 . G A . . ANN=A|sequence_feature|LOW|RASL10A|ENSG00000100276|region_of_interest:Small_GTPase-like|ENST00000216101|protein_coding|2/3|c.220-13C>T||||||,A|sequence_feature|LOW|RASL10A|ENSG00000100276|region_of_interest:Small_GTPase-like|ENST00000216101|protein_coding|3/3|c.220-13C>T||||||,A|sequence_feature|LOW|RASL10A|ENSG00000100276|region_of_interest:Small_GTPase-like|ENST00000216101|protein_coding|1/3|c.220-13C>T||||||,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000403764|protein_coding||c.*1763G>A|||||1215|,A|downstream_gene_variant|MODIFIER|AC002059.10|ENSG00000273216|transcript|ENST00000608014|sense_intronic||n.*477C>T|||||2744|,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000407647|protein_coding||c.*2205G>A|||||1215|,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000360113|protein_coding||c.*1140G>A|||||1218|,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000406549|protein_coding||c.*1515G>A|||||1215|,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000341313|protein_coding||c.*1146G>A|||||1906|,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000407854|protein_coding||c.*1762G>A|||||1215|,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000471961|protein_coding||c.*2662G>A|||||1215|,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000491016|retained_intron||n.*646G>A|||||2892|,A|intron_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000216101|protein_coding|1/2|c.220-13C>T||||||,A|intron_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000401450|protein_coding|1/1|c.220-13C>T||||||,A|intron_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000608559|processed_transcript|1/2|n.372-13C>T||||||,A|intron_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000474590|processed_transcript|1/1|n.86-13C>T|||||| 22 29711158 . G A . . ANN=A|synonymous_variant|LOW|RASL10A|ENSG00000100276|transcript|ENST00000216101|protein_coding|1/3|c.78C>T|p.Phe26Phe|588/1490|78/612|26/203||,A|synonymous_variant|LOW|RASL10A|ENSG00000100276|transcript|ENST00000401450|protein_coding|1/2|c.78C>T|p.Phe26Phe|524/1720|78/348|26/115||,A|sequence_feature|LOW|RASL10A|ENSG00000100276|region_of_interest:Small_GTPase-like|ENST00000216101|protein_coding|2/3|c.78C>T||||||,A|sequence_feature|LOW|RASL10A|ENSG00000100276|region_of_interest:Small_GTPase-like|ENST00000216101|protein_coding|3/3|c.78C>T||||||,A|sequence_feature|LOW|RASL10A|ENSG00000100276|region_of_interest:Small_GTPase-like|ENST00000216101|protein_coding|1/3|c.78C>T||||||,A|upstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000474590|processed_transcript||n.-1C>T|||||863|,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000403764|protein_coding||c.*1763G>A|||||2384|,A|downstream_gene_variant|MODIFIER|AC002059.10|ENSG00000273216|transcript|ENST00000608014|sense_intronic||n.*477C>T|||||1575|,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000407647|protein_coding||c.*2205G>A|||||2384|,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000360113|protein_coding||c.*1140G>A|||||2387|,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000406549|protein_coding||c.*1515G>A|||||2384|,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000341313|protein_coding||c.*1146G>A|||||3075|,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000407854|protein_coding||c.*1762G>A|||||2384|,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000471961|protein_coding||c.*2662G>A|||||2384|,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000491016|retained_intron||n.*646G>A|||||4061|,A|intron_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000608559|processed_transcript|1/2|n.372-1182C>T|||||| 22 29711247 . G C . . ANN=C|5_prime_UTR_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000216101|protein_coding|1/3|c.-12C>G|||||12|,C|5_prime_UTR_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000401450|protein_coding|1/2|c.-12C>G|||||12|,C|upstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000474590|processed_transcript||n.-1C>G|||||952|,C|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000403764|protein_coding||c.*1763G>C|||||2473|,C|downstream_gene_variant|MODIFIER|AC002059.10|ENSG00000273216|transcript|ENST00000608014|sense_intronic||n.*477C>G|||||1486|,C|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000407647|protein_coding||c.*2205G>C|||||2473|,C|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000360113|protein_coding||c.*1140G>C|||||2476|,C|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000406549|protein_coding||c.*1515G>C|||||2473|,C|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000341313|protein_coding||c.*1146G>C|||||3164|,C|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000407854|protein_coding||c.*1762G>C|||||2473|,C|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000471961|protein_coding||c.*2662G>C|||||2473|,C|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000491016|retained_intron||n.*646G>C|||||4150|,C|intron_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000608559|processed_transcript|1/2|n.372-1271C>G|||||| 22 29724792 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|23/23|c.*18A>G|||||18|,C|3_prime_UTR_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|22/22|c.*18A>G|||||18|,C|3_prime_UTR_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|21/21|c.*18A>G|||||18|,C|3_prime_UTR_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|22/22|c.*18A>G|||||18|,C|3_prime_UTR_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|21/21|c.*18A>G|||||18|,C|3_prime_UTR_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|20/20|c.*18A>G|||||18|,C|downstream_gene_variant|MODIFIER|SNORD125|ENSG00000239127|transcript|ENST00000459538|snoRNA||n.*96A>G|||||4360|,C|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding||c.*2838A>G|||||18|,C|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000472057|processed_transcript||n.*727A>G|||||2654|,C|non_coding_exon_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000482818|retained_intron|4/4|n.2437A>G|||||| 22 29724916 . C A . . ANN=A|downstream_gene_variant|MODIFIER|SNORD125|ENSG00000239127|transcript|ENST00000459538|snoRNA||n.*96G>T|||||4236|,A|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000472057|processed_transcript||n.*727G>T|||||2530|,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|22/22|c.2776-32G>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|21/21|c.2755-32G>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|20/20|c.2746-32G>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|21/21|c.2776-32G>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|20/20|c.2686-32G>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|19/19|c.2746-32G>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|19/19|c.2746-32G>T||||||,A|non_coding_exon_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000482818|retained_intron|4/4|n.2313G>T|||||| 22 29725674 . C T . . ANN=T|downstream_gene_variant|MODIFIER|SNORD125|ENSG00000239127|transcript|ENST00000459538|snoRNA||n.*96G>A|||||3478|,T|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000472057|processed_transcript||n.*727G>A|||||1772|,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|22/22|c.2775+27G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|21/21|c.2754+27G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|20/20|c.2745+693G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|21/21|c.2775+27G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|20/20|c.2685+693G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|19/19|c.2745+693G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|19/19|c.2745+693G>A||||||,T|non_coding_exon_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000482818|retained_intron|4/4|n.1555G>A|||||| 22 29726339 . G A . . ANN=A|downstream_gene_variant|MODIFIER|SNORD125|ENSG00000239127|transcript|ENST00000459538|snoRNA||n.*96C>T|||||2813|,A|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000472057|processed_transcript||n.*727C>T|||||1107|,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|21/22|c.2766+28C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|20/21|c.2745+28C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|20/20|c.2745+28C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|20/21|c.2766+28C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|20/20|c.2685+28C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|19/19|c.2745+28C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|19/19|c.2745+28C>T||||||,A|non_coding_exon_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000482818|retained_intron|4/4|n.890C>T|||||| 22 29726356 . G A . . ANN=A|downstream_gene_variant|MODIFIER|SNORD125|ENSG00000239127|transcript|ENST00000459538|snoRNA||n.*96C>T|||||2796|,A|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000472057|processed_transcript||n.*727C>T|||||1090|,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|21/22|c.2766+11C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|20/21|c.2745+11C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|20/20|c.2745+11C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|20/21|c.2766+11C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|20/20|c.2685+11C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|19/19|c.2745+11C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|19/19|c.2745+11C>T||||||,A|non_coding_exon_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000482818|retained_intron|4/4|n.873C>T|||||| 22 29726395 . C T . . ANN=T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|21/23|c.2738G>A|p.Arg913Gln|2925/4176|2738/2850|913/949||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|20/22|c.2717G>A|p.Arg906Gln|2904/4155|2717/2829|906/942||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|20/21|c.2717G>A|p.Arg906Gln|2904/4146|2717/2820|906/939||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|20/22|c.2738G>A|p.Arg913Gln|2770/3838|2738/2850|913/949||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|20/21|c.2657G>A|p.Arg886Gln|2844/3903|2657/2760|886/919||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|19/20|c.2717G>A|p.Arg906Gln|2749/2935|2717/2820|906/939||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|19/20|c.2717G>A|p.Arg906Gln|2735/2838|2717/2820|906/939||,T|downstream_gene_variant|MODIFIER|SNORD125|ENSG00000239127|transcript|ENST00000459538|snoRNA||n.*96G>A|||||2757|,T|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000472057|processed_transcript||n.*727G>A|||||1051|,T|non_coding_exon_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000482818|retained_intron|4/4|n.834G>A|||||| 22 29726466 . G A . . ANN=A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|21/23|c.2667C>T|p.Asn889Asn|2854/4176|2667/2850|889/949||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|20/22|c.2646C>T|p.Asn882Asn|2833/4155|2646/2829|882/942||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|20/21|c.2646C>T|p.Asn882Asn|2833/4146|2646/2820|882/939||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|20/22|c.2667C>T|p.Asn889Asn|2699/3838|2667/2850|889/949||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|20/21|c.2586C>T|p.Asn862Asn|2773/3903|2586/2760|862/919||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|19/20|c.2646C>T|p.Asn882Asn|2678/2935|2646/2820|882/939||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|19/20|c.2646C>T|p.Asn882Asn|2664/2838|2646/2820|882/939||,A|downstream_gene_variant|MODIFIER|SNORD125|ENSG00000239127|transcript|ENST00000459538|snoRNA||n.*96C>T|||||2686|,A|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000472057|processed_transcript||n.*727C>T|||||980|,A|non_coding_exon_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000482818|retained_intron|4/4|n.763C>T|||||| 22 29726601 . G A . . ANN=A|downstream_gene_variant|MODIFIER|SNORD125|ENSG00000239127|transcript|ENST00000459538|snoRNA||n.*96C>T|||||2551|,A|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000472057|processed_transcript||n.*727C>T|||||845|,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|20/22|c.2611+11C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000482818|retained_intron|3/3|n.707+11C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|19/21|c.2590+11C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|19/20|c.2590+11C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|19/21|c.2611+11C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|19/20|c.2530+11C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|18/19|c.2590+11C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|18/19|c.2590+11C>T|||||| 22 29726624 . G A . . ANN=A|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|20/23|c.2599C>T|p.Pro867Ser|2786/4176|2599/2850|867/949||,A|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|19/22|c.2578C>T|p.Pro860Ser|2765/4155|2578/2829|860/942||,A|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|19/21|c.2578C>T|p.Pro860Ser|2765/4146|2578/2820|860/939||,A|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|19/22|c.2599C>T|p.Pro867Ser|2631/3838|2599/2850|867/949||,A|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|19/21|c.2518C>T|p.Pro840Ser|2705/3903|2518/2760|840/919||,A|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|18/20|c.2578C>T|p.Pro860Ser|2610/2935|2578/2820|860/939||,A|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|18/20|c.2578C>T|p.Pro860Ser|2596/2838|2578/2820|860/939||,A|downstream_gene_variant|MODIFIER|SNORD125|ENSG00000239127|transcript|ENST00000459538|snoRNA||n.*96C>T|||||2528|,A|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000472057|processed_transcript||n.*727C>T|||||822|,A|non_coding_exon_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000482818|retained_intron|3/4|n.695C>T|||||| 22 29727535 . G C . . ANN=C|downstream_gene_variant|MODIFIER|SNORD125|ENSG00000239127|transcript|ENST00000459538|snoRNA||n.*96C>G|||||1617|,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|18/22|c.2440-13C>G||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000482818|retained_intron|1/3|n.536-13C>G||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|17/21|c.2419-13C>G||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|17/20|c.2419-13C>G||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|17/21|c.2440-13C>G||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|17/20|c.2359-13C>G||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|16/19|c.2419-13C>G||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|16/19|c.2419-13C>G||||||,C|non_coding_exon_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000472057|processed_transcript|5/5|n.638C>G|||||| 22 29727729 . C T . . ANN=T|downstream_gene_variant|MODIFIER|SNORD125|ENSG00000239127|transcript|ENST00000459538|snoRNA||n.*96G>A|||||1423|,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|18/22|c.2439+47G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000482818|retained_intron|1/3|n.535+47G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|17/21|c.2418+47G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|17/20|c.2418+47G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|17/21|c.2439+47G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|17/20|c.2358+47G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|16/19|c.2418+47G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|16/19|c.2418+47G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000472057|processed_transcript|4/4|n.602+47G>A|||||| 22 29727866 . C T . . ANN=T|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|18/23|c.2349G>A|p.Ala783Ala|2536/4176|2349/2850|783/949||,T|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|17/22|c.2328G>A|p.Ala776Ala|2515/4155|2328/2829|776/942||,T|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|17/21|c.2328G>A|p.Ala776Ala|2515/4146|2328/2820|776/939||,T|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|17/22|c.2349G>A|p.Ala783Ala|2381/3838|2349/2850|783/949||,T|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|17/21|c.2268G>A|p.Ala756Ala|2455/3903|2268/2760|756/919||,T|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|16/20|c.2328G>A|p.Ala776Ala|2360/2935|2328/2820|776/939||,T|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|16/20|c.2328G>A|p.Ala776Ala|2346/2838|2328/2820|776/939||,T|downstream_gene_variant|MODIFIER|SNORD125|ENSG00000239127|transcript|ENST00000459538|snoRNA||n.*96G>A|||||1286|,T|non_coding_exon_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000482818|retained_intron|1/4|n.445G>A||||||,T|non_coding_exon_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000472057|processed_transcript|4/5|n.512G>A|||||| 22 29727881 . G C . . ANN=C|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|18/23|c.2334C>G|p.Pro778Pro|2521/4176|2334/2850|778/949||,C|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|17/22|c.2313C>G|p.Pro771Pro|2500/4155|2313/2829|771/942||,C|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|17/21|c.2313C>G|p.Pro771Pro|2500/4146|2313/2820|771/939||,C|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|17/22|c.2334C>G|p.Pro778Pro|2366/3838|2334/2850|778/949||,C|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|17/21|c.2253C>G|p.Pro751Pro|2440/3903|2253/2760|751/919||,C|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|16/20|c.2313C>G|p.Pro771Pro|2345/2935|2313/2820|771/939||,C|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|16/20|c.2313C>G|p.Pro771Pro|2331/2838|2313/2820|771/939||,C|downstream_gene_variant|MODIFIER|SNORD125|ENSG00000239127|transcript|ENST00000459538|snoRNA||n.*96C>G|||||1271|,C|non_coding_exon_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000482818|retained_intron|1/4|n.430C>G||||||,C|non_coding_exon_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000472057|processed_transcript|4/5|n.497C>G|||||| 22 29727886 . T C . . ANN=C|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|18/23|c.2329A>G|p.Thr777Ala|2516/4176|2329/2850|777/949||,C|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|17/22|c.2308A>G|p.Thr770Ala|2495/4155|2308/2829|770/942||,C|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|17/21|c.2308A>G|p.Thr770Ala|2495/4146|2308/2820|770/939||,C|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|17/22|c.2329A>G|p.Thr777Ala|2361/3838|2329/2850|777/949||,C|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|17/21|c.2248A>G|p.Thr750Ala|2435/3903|2248/2760|750/919||,C|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|16/20|c.2308A>G|p.Thr770Ala|2340/2935|2308/2820|770/939||,C|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|16/20|c.2308A>G|p.Thr770Ala|2326/2838|2308/2820|770/939||,C|downstream_gene_variant|MODIFIER|SNORD125|ENSG00000239127|transcript|ENST00000459538|snoRNA||n.*96A>G|||||1266|,C|non_coding_exon_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000482818|retained_intron|1/4|n.425A>G||||||,C|non_coding_exon_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000472057|processed_transcript|4/5|n.492A>G|||||| 22 29727944 . T G . . ANN=G|downstream_gene_variant|MODIFIER|SNORD125|ENSG00000239127|transcript|ENST00000459538|snoRNA||n.*96A>C|||||1208|,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|17/22|c.2310-39A>C||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|16/21|c.2289-39A>C||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|16/20|c.2289-39A>C||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|16/21|c.2310-39A>C||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|16/20|c.2229-39A>C||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|15/19|c.2289-39A>C||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|15/19|c.2289-39A>C||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000472057|processed_transcript|3/4|n.473-39A>C||||||,G|non_coding_exon_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000482818|retained_intron|1/4|n.367A>C|||||| 22 29730232 . G C . . ANN=C|upstream_gene_variant|MODIFIER|SNORD125|ENSG00000239127|transcript|ENST00000459538|snoRNA||n.-1C>G|||||985|,C|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000482818|retained_intron||n.-1C>G|||||1922|,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|17/22|c.2309+22C>G||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|16/21|c.2288+22C>G||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|16/20|c.2288+22C>G||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|16/21|c.2309+22C>G||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|16/20|c.2228+22C>G||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|15/19|c.2288+22C>G||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|15/19|c.2288+22C>G||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000472057|processed_transcript|3/4|n.472+22C>G|||||| 22 29730346 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|15/20|c.2143-7C>T||||||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|17/23|c.2217C>T|p.Thr739Thr|2404/4176|2217/2850|739/949||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|16/22|c.2196C>T|p.Thr732Thr|2383/4155|2196/2829|732/942||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|16/21|c.2196C>T|p.Thr732Thr|2383/4146|2196/2820|732/939||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|16/22|c.2217C>T|p.Thr739Thr|2249/3838|2217/2850|739/949||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|15/20|c.2196C>T|p.Thr732Thr|2228/2935|2196/2820|732/939||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|15/20|c.2196C>T|p.Thr732Thr|2214/2838|2196/2820|732/939||,A|upstream_gene_variant|MODIFIER|SNORD125|ENSG00000239127|transcript|ENST00000459538|snoRNA||n.-1C>T|||||1099|,A|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000482818|retained_intron||n.-1C>T|||||2036|,A|non_coding_exon_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000472057|processed_transcript|3/5|n.380C>T|||||| 22 29730446 . C T . . ANN=T|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|16/22|c.2164-47G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|14/22|c.2164-47G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|12/22|c.2164-47G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|15/22|c.2164-47G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|13/22|c.2164-47G>A||||||,T|upstream_gene_variant|MODIFIER|SNORD125|ENSG00000239127|transcript|ENST00000459538|snoRNA||n.-1G>A|||||1199|,T|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000482818|retained_intron||n.-1G>A|||||2136|,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|16/22|c.2164-47G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|15/21|c.2143-47G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|15/20|c.2143-47G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|15/21|c.2164-47G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|15/20|c.2143-107G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|14/19|c.2143-47G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|14/19|c.2143-47G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000472057|processed_transcript|2/4|n.327-47G>A|||||| 22 29734941 . C G . . ANN=G|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|16/22|c.2163+38G>C||||||,G|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|14/22|c.2163+38G>C||||||,G|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|12/22|c.2163+38G>C||||||,G|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|15/22|c.2163+38G>C||||||,G|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|13/22|c.2163+38G>C||||||,G|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding||c.*1908G>C|||||2611|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|16/22|c.2163+38G>C||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|15/21|c.2142+38G>C||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|15/20|c.2142+38G>C||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|15/21|c.2163+38G>C||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|15/20|c.2142+38G>C||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|14/19|c.2142+38G>C||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|14/19|c.2142+38G>C||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000472057|processed_transcript|2/4|n.326+38G>C|||||| 22 29734950 . CCCG C . . ANN=|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|16/22|c.2163+26_2163+28delCGG||||||,|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|14/22|c.2163+26_2163+28delCGG||||||,|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|12/22|c.2163+26_2163+28delCGG||||||,|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|15/22|c.2163+26_2163+28delCGG||||||,|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|13/22|c.2163+26_2163+28delCGG||||||,|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding||c.*1908_*1908delCGG|||||2601|WARNING_TRANSCRIPT_NO_STOP_CODON,|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|16/22|c.2163+26_2163+28delCGG||||||,|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|15/21|c.2142+26_2142+28delCGG||||||,|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|15/20|c.2142+26_2142+28delCGG||||||,|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|15/21|c.2163+26_2163+28delCGG||||||,|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|15/20|c.2142+26_2142+28delCGG||||||,|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|14/19|c.2142+26_2142+28delCGG||||||,|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|14/19|c.2142+26_2142+28delCGG||||||,|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000472057|processed_transcript|2/4|n.326+26_326+28delCGG|||||| 22 29734952 . C T . . ANN=T|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|16/22|c.2163+27G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|14/22|c.2163+27G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|12/22|c.2163+27G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|15/22|c.2163+27G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|13/22|c.2163+27G>A||||||,T|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding||c.*1908G>A|||||2600|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|16/22|c.2163+27G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|15/21|c.2142+27G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|15/20|c.2142+27G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|15/21|c.2163+27G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|15/20|c.2142+27G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|14/19|c.2142+27G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|14/19|c.2142+27G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000472057|processed_transcript|2/4|n.326+27G>A|||||| 22 29735000 . T A . . ANN=A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|16/23|c.2142A>T|p.Gly714Gly|2329/4176|2142/2850|714/949||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|15/22|c.2121A>T|p.Gly707Gly|2308/4155|2121/2829|707/942||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|15/21|c.2121A>T|p.Gly707Gly|2308/4146|2121/2820|707/939||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|15/22|c.2142A>T|p.Gly714Gly|2174/3838|2142/2850|714/949||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|15/21|c.2121A>T|p.Gly707Gly|2308/3903|2121/2760|707/919||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|14/20|c.2121A>T|p.Gly707Gly|2153/2935|2121/2820|707/939||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|14/20|c.2121A>T|p.Gly707Gly|2139/2838|2121/2820|707/939||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|16/22|c.2142A>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|14/22|c.2142A>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|12/22|c.2142A>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|15/22|c.2142A>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|13/22|c.2142A>T||||||,A|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding||c.*1908A>T|||||2552|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000472057|processed_transcript|2/5|n.305A>T|||||| 22 29735056 . C T . . ANN=T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|16/23|c.2086G>A|p.Gly696Ser|2273/4176|2086/2850|696/949||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|15/22|c.2065G>A|p.Gly689Ser|2252/4155|2065/2829|689/942||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|15/21|c.2065G>A|p.Gly689Ser|2252/4146|2065/2820|689/939||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|15/22|c.2086G>A|p.Gly696Ser|2118/3838|2086/2850|696/949||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|15/21|c.2065G>A|p.Gly689Ser|2252/3903|2065/2760|689/919||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|14/20|c.2065G>A|p.Gly689Ser|2097/2935|2065/2820|689/939||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|14/20|c.2065G>A|p.Gly689Ser|2083/2838|2065/2820|689/939||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|16/22|c.2086G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|14/22|c.2086G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|12/22|c.2086G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|15/22|c.2086G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|13/22|c.2086G>A||||||,T|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding||c.*1908G>A|||||2496|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000472057|processed_transcript|2/5|n.249G>A|||||| 22 29735065 . C T . . ANN=T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|16/23|c.2077G>A|p.Ala693Thr|2264/4176|2077/2850|693/949||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|15/22|c.2056G>A|p.Ala686Thr|2243/4155|2056/2829|686/942||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|15/21|c.2056G>A|p.Ala686Thr|2243/4146|2056/2820|686/939||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|15/22|c.2077G>A|p.Ala693Thr|2109/3838|2077/2850|693/949||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|15/21|c.2056G>A|p.Ala686Thr|2243/3903|2056/2760|686/919||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|14/20|c.2056G>A|p.Ala686Thr|2088/2935|2056/2820|686/939||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|14/20|c.2056G>A|p.Ala686Thr|2074/2838|2056/2820|686/939||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|16/22|c.2077G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|14/22|c.2077G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|12/22|c.2077G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|15/22|c.2077G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|13/22|c.2077G>A||||||,T|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding||c.*1908G>A|||||2487|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000472057|processed_transcript|2/5|n.240G>A|||||| 22 29735105 . G A . . ANN=A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|16/23|c.2037C>T|p.Phe679Phe|2224/4176|2037/2850|679/949||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|15/22|c.2016C>T|p.Phe672Phe|2203/4155|2016/2829|672/942||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|15/21|c.2016C>T|p.Phe672Phe|2203/4146|2016/2820|672/939||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|15/22|c.2037C>T|p.Phe679Phe|2069/3838|2037/2850|679/949||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|15/21|c.2016C>T|p.Phe672Phe|2203/3903|2016/2760|672/919||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|14/20|c.2016C>T|p.Phe672Phe|2048/2935|2016/2820|672/939||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|14/20|c.2016C>T|p.Phe672Phe|2034/2838|2016/2820|672/939||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|16/22|c.2037C>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|14/22|c.2037C>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|12/22|c.2037C>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|15/22|c.2037C>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|13/22|c.2037C>T||||||,A|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding||c.*1908C>T|||||2447|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000472057|processed_transcript|2/5|n.200C>T|||||| 22 29735733 . T C . . ANN=C|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|16/22|c.2019+10A>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|14/22|c.2019+10A>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|12/22|c.2019+10A>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|15/22|c.2019+10A>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|13/22|c.2019+10A>G||||||,C|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding||c.*1908A>G|||||1819|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|15/22|c.2019+10A>G||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|14/21|c.1999-611A>G||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|14/20|c.1999-611A>G||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|14/21|c.2019+10A>G||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|14/20|c.1999-611A>G||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|13/19|c.1999-611A>G||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|13/19|c.1999-611A>G||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000472057|processed_transcript|1/4|n.183-611A>G|||||| 22 29736660 . A G . . ANN=G|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|14/23|c.1983T>C|p.Gly661Gly|2170/4176|1983/2850|661/949||,G|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|14/22|c.1983T>C|p.Gly661Gly|2170/4155|1983/2829|661/942||,G|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|14/21|c.1983T>C|p.Gly661Gly|2170/4146|1983/2820|661/939||,G|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|13/22|c.1983T>C|p.Gly661Gly|2015/3838|1983/2850|661/949||,G|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|14/21|c.1983T>C|p.Gly661Gly|2170/3903|1983/2760|661/919||,G|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|13/20|c.1983T>C|p.Gly661Gly|2015/2935|1983/2820|661/939||,G|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|13/20|c.1983T>C|p.Gly661Gly|2001/2838|1983/2820|661/939||,G|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|16/22|c.1983T>C||||||,G|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|14/22|c.1983T>C||||||,G|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|12/22|c.1983T>C||||||,G|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|15/22|c.1983T>C||||||,G|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|13/22|c.1983T>C||||||,G|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding||c.*1908T>C|||||892|WARNING_TRANSCRIPT_NO_STOP_CODON,G|non_coding_exon_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000472057|processed_transcript|1/5|n.167T>C|||||| 22 29736756 . C T . . ANN=T|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|14/23|c.1887G>A|p.Leu629Leu|2074/4176|1887/2850|629/949||,T|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|14/22|c.1887G>A|p.Leu629Leu|2074/4155|1887/2829|629/942||,T|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|14/21|c.1887G>A|p.Leu629Leu|2074/4146|1887/2820|629/939||,T|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|13/22|c.1887G>A|p.Leu629Leu|1919/3838|1887/2850|629/949||,T|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|14/21|c.1887G>A|p.Leu629Leu|2074/3903|1887/2760|629/919||,T|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|13/20|c.1887G>A|p.Leu629Leu|1919/2935|1887/2820|629/939||,T|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|13/20|c.1887G>A|p.Leu629Leu|1905/2838|1887/2820|629/939||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|16/22|c.1887G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|14/22|c.1887G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|12/22|c.1887G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|15/22|c.1887G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|13/22|c.1887G>A||||||,T|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding||c.*1908G>A|||||796|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000472057|processed_transcript|1/5|n.71G>A|||||| 22 29736816 . G C . . ANN=C|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|14/23|c.1827C>G|p.Ala609Ala|2014/4176|1827/2850|609/949||,C|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|14/22|c.1827C>G|p.Ala609Ala|2014/4155|1827/2829|609/942||,C|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|14/21|c.1827C>G|p.Ala609Ala|2014/4146|1827/2820|609/939||,C|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|13/22|c.1827C>G|p.Ala609Ala|1859/3838|1827/2850|609/949||,C|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|14/21|c.1827C>G|p.Ala609Ala|2014/3903|1827/2760|609/919||,C|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|13/20|c.1827C>G|p.Ala609Ala|1859/2935|1827/2820|609/939||,C|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|13/20|c.1827C>G|p.Ala609Ala|1845/2838|1827/2820|609/939||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|16/22|c.1827C>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|14/22|c.1827C>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|12/22|c.1827C>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|15/22|c.1827C>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|13/22|c.1827C>G||||||,C|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding||c.*1908C>G|||||736|WARNING_TRANSCRIPT_NO_STOP_CODON,C|non_coding_exon_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000472057|processed_transcript|1/5|n.11C>G|||||| 22 29737470 . G A . . ANN=A|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|16/22|c.1796+20C>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|14/22|c.1796+20C>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|12/22|c.1796+20C>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|15/22|c.1796+20C>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|13/22|c.1796+20C>T||||||,A|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000472057|processed_transcript||n.-1C>T|||||644|,A|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding||c.*1908C>T|||||82|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|13/22|c.1796+20C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|13/21|c.1796+20C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|13/20|c.1796+20C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|12/21|c.1796+20C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|13/20|c.1796+20C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|12/19|c.1796+20C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|12/19|c.1796+20C>T|||||| 22 29737521 . C T . . ANN=T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|13/23|c.1765G>A|p.Val589Met|1952/4176|1765/2850|589/949||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|13/22|c.1765G>A|p.Val589Met|1952/4155|1765/2829|589/942||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|13/21|c.1765G>A|p.Val589Met|1952/4146|1765/2820|589/939||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|12/22|c.1765G>A|p.Val589Met|1797/3838|1765/2850|589/949||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|13/21|c.1765G>A|p.Val589Met|1952/3903|1765/2760|589/919||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|12/20|c.1765G>A|p.Val589Met|1797/2935|1765/2820|589/939||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|12/20|c.1765G>A|p.Val589Met|1783/2838|1765/2820|589/939||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|16/22|c.1765G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|14/22|c.1765G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|12/22|c.1765G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|15/22|c.1765G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|13/22|c.1765G>A||||||,T|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000472057|processed_transcript||n.-1G>A|||||695|,T|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding||c.*1908G>A|||||31|WARNING_TRANSCRIPT_NO_STOP_CODON 22 29737526 . C A . . ANN=A|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|13/23|c.1760G>T|p.Gly587Val|1947/4176|1760/2850|587/949||,A|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|13/22|c.1760G>T|p.Gly587Val|1947/4155|1760/2829|587/942||,A|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|13/21|c.1760G>T|p.Gly587Val|1947/4146|1760/2820|587/939||,A|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|12/22|c.1760G>T|p.Gly587Val|1792/3838|1760/2850|587/949||,A|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|13/21|c.1760G>T|p.Gly587Val|1947/3903|1760/2760|587/919||,A|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|12/20|c.1760G>T|p.Gly587Val|1792/2935|1760/2820|587/939||,A|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|12/20|c.1760G>T|p.Gly587Val|1778/2838|1760/2820|587/939||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|16/22|c.1760G>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|14/22|c.1760G>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|12/22|c.1760G>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|15/22|c.1760G>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|13/22|c.1760G>T||||||,A|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000472057|processed_transcript||n.-1G>T|||||700|,A|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding||c.*1908G>T|||||26|WARNING_TRANSCRIPT_NO_STOP_CODON 22 29737551 . T C . . ANN=C|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|13/23|c.1735A>G|p.Ser579Gly|1922/4176|1735/2850|579/949||,C|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|13/22|c.1735A>G|p.Ser579Gly|1922/4155|1735/2829|579/942||,C|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|13/21|c.1735A>G|p.Ser579Gly|1922/4146|1735/2820|579/939||,C|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|12/22|c.1735A>G|p.Ser579Gly|1767/3838|1735/2850|579/949||,C|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|13/21|c.1735A>G|p.Ser579Gly|1922/3903|1735/2760|579/919||,C|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|12/20|c.1735A>G|p.Ser579Gly|1767/2935|1735/2820|579/939||,C|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|12/20|c.1735A>G|p.Ser579Gly|1753/2838|1735/2820|579/939||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000356015|protein_coding|13/22|c.1735A>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|16/22|c.1735A>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|14/22|c.1735A>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|12/22|c.1735A>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|15/22|c.1735A>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|13/22|c.1735A>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000405198|protein_coding|12/22|c.1735A>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000317368|protein_coding|13/21|c.1735A>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000415447|protein_coding|12/20|c.1735A>G||||||,C|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000472057|processed_transcript||n.-1A>G|||||725|,C|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding||c.*1908A>G|||||1|WARNING_TRANSCRIPT_NO_STOP_CODON 22 29737579 . C T . . ANN=T|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|13/23|c.1707G>A|p.Thr569Thr|1894/4176|1707/2850|569/949||,T|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|13/22|c.1707G>A|p.Thr569Thr|1894/4155|1707/2829|569/942||,T|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|13/21|c.1707G>A|p.Thr569Thr|1894/4146|1707/2820|569/939||,T|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|12/22|c.1707G>A|p.Thr569Thr|1739/3838|1707/2850|569/949||,T|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|13/21|c.1707G>A|p.Thr569Thr|1894/3903|1707/2760|569/919||,T|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|12/20|c.1707G>A|p.Thr569Thr|1739/2935|1707/2820|569/939||,T|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|12/20|c.1707G>A|p.Thr569Thr|1725/2838|1707/2820|569/939||,T|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding|13/13|c.1707G>A|p.Thr569Thr|1881/1908|1707/1734|569/577||WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000472057|processed_transcript||n.-1G>A|||||753| 22 29737773 . A G . . ANN=G|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000472057|processed_transcript||n.-1T>C|||||947|,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|12/22|c.1537-24T>C||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|12/21|c.1537-24T>C||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|12/20|c.1537-24T>C||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|11/21|c.1537-24T>C||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|12/20|c.1537-24T>C||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|11/19|c.1537-24T>C||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|11/19|c.1537-24T>C||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding|12/12|c.1537-24T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 29737788 . G C . . ANN=C|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000472057|processed_transcript||n.-1C>G|||||962|,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|12/22|c.1537-39C>G||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|12/21|c.1537-39C>G||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|12/20|c.1537-39C>G||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|11/21|c.1537-39C>G||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|12/20|c.1537-39C>G||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|11/19|c.1537-39C>G||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|11/19|c.1537-39C>G||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding|12/12|c.1537-39C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 29738254 . G A . . ANN=A|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000472057|processed_transcript||n.-1C>T|||||1428|,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|12/22|c.1536+20C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|12/21|c.1536+20C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|12/20|c.1536+20C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|11/21|c.1536+20C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|12/20|c.1536+20C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|11/19|c.1536+20C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|11/19|c.1536+20C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding|12/12|c.1536+20C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 29738399 . G T . . ANN=T|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000356015|protein_coding|11/22|c.1438-27C>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000356015|protein_coding|12/22|c.1438-27C>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000405198|protein_coding|10/22|c.1438-27C>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000405198|protein_coding|11/22|c.1438-27C>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000317368|protein_coding|11/21|c.1438-27C>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000317368|protein_coding|12/21|c.1438-27C>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000415447|protein_coding|10/20|c.1438-27C>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000415447|protein_coding|11/20|c.1438-27C>A||||||,T|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000472057|processed_transcript||n.-1C>A|||||1573|,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|11/22|c.1438-27C>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|11/21|c.1438-27C>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|11/20|c.1438-27C>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|10/21|c.1438-27C>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|11/20|c.1438-27C>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|10/19|c.1438-27C>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|10/19|c.1438-27C>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding|11/12|c.1438-27C>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 29738400 . A G . . ANN=G|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000356015|protein_coding|11/22|c.1438-28T>C||||||,G|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000356015|protein_coding|12/22|c.1438-28T>C||||||,G|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000405198|protein_coding|10/22|c.1438-28T>C||||||,G|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000405198|protein_coding|11/22|c.1438-28T>C||||||,G|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000317368|protein_coding|11/21|c.1438-28T>C||||||,G|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000317368|protein_coding|12/21|c.1438-28T>C||||||,G|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000415447|protein_coding|10/20|c.1438-28T>C||||||,G|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000415447|protein_coding|11/20|c.1438-28T>C||||||,G|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000472057|processed_transcript||n.-1T>C|||||1574|,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|11/22|c.1438-28T>C||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|11/21|c.1438-28T>C||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|11/20|c.1438-28T>C||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|10/21|c.1438-28T>C||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|11/20|c.1438-28T>C||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|10/19|c.1438-28T>C||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|10/19|c.1438-28T>C||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding|11/12|c.1438-28T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 29745417 . C T . . ANN=T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|10/22|c.1272-45G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|10/21|c.1272-45G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|10/20|c.1272-45G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|9/21|c.1272-45G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|10/20|c.1272-45G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|9/19|c.1272-45G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|9/19|c.1272-45G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding|10/12|c.1272-45G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000415756|protein_coding|3/3|c.408-45G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 29746062 . G A . . ANN=A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|10/23|c.1233C>T|p.Ile411Ile|1420/4176|1233/2850|411/949||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|10/22|c.1233C>T|p.Ile411Ile|1420/4155|1233/2829|411/942||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|10/21|c.1233C>T|p.Ile411Ile|1420/4146|1233/2820|411/939||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|9/22|c.1233C>T|p.Ile411Ile|1265/3838|1233/2850|411/949||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|10/21|c.1233C>T|p.Ile411Ile|1420/3903|1233/2760|411/919||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|9/20|c.1233C>T|p.Ile411Ile|1265/2935|1233/2820|411/939||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|9/20|c.1233C>T|p.Ile411Ile|1251/2838|1233/2820|411/939||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding|10/13|c.1233C>T|p.Ile411Ile|1407/1908|1233/1734|411/577||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000415756|protein_coding|3/4|c.369C>T|p.Ile123Ile|370/519|369/518|123/171||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000356015|protein_coding|10/22|c.1233C>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000405198|protein_coding|9/22|c.1233C>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000317368|protein_coding|10/21|c.1233C>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000415447|protein_coding|9/20|c.1233C>T|||||| 22 29746186 . C G . . ANN=G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|9/22|c.1156-47G>C||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|9/21|c.1156-47G>C||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|9/20|c.1156-47G>C||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|8/21|c.1156-47G>C||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|9/20|c.1156-47G>C||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|8/19|c.1156-47G>C||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|8/19|c.1156-47G>C||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding|9/12|c.1156-47G>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000415756|protein_coding|2/3|c.292-47G>C||||||WARNING_TRANSCRIPT_INCOMPLETE 22 29747112 . C T . . ANN=T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|9/22|c.1155+48G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|9/21|c.1155+48G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|9/20|c.1155+48G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|8/21|c.1155+48G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|9/20|c.1155+48G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|8/19|c.1155+48G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|8/19|c.1155+48G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding|9/12|c.1155+48G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000415756|protein_coding|2/3|c.291+48G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 29747266 . A G . . ANN=G|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000415756|protein_coding|2/4|c.185T>C|p.Phe62Ser|186/519|185/518|62/171||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000356015|protein_coding|9/22|c.1060-11T>C||||||,G|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000356015|protein_coding|8/22|c.1060-11T>C||||||,G|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000405198|protein_coding|8/22|c.1060-11T>C||||||,G|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000405198|protein_coding|7/22|c.1060-11T>C||||||,G|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000317368|protein_coding|9/21|c.1060-11T>C||||||,G|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000317368|protein_coding|8/21|c.1060-11T>C||||||,G|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000415447|protein_coding|8/20|c.1060-11T>C||||||,G|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000415447|protein_coding|7/20|c.1060-11T>C||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|8/22|c.1060-11T>C||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|8/21|c.1060-11T>C||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|8/20|c.1060-11T>C||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|7/21|c.1060-11T>C||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|8/20|c.1060-11T>C||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|7/19|c.1060-11T>C||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|7/19|c.1060-11T>C||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding|8/12|c.1060-11T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 29747644 . T C . . ANN=C|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000356015|protein_coding|9/22|c.1059+50A>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000356015|protein_coding|8/22|c.1059+50A>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000405198|protein_coding|8/22|c.1059+50A>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000405198|protein_coding|7/22|c.1059+50A>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000317368|protein_coding|9/21|c.1059+50A>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000317368|protein_coding|8/21|c.1059+50A>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000415447|protein_coding|8/20|c.1059+50A>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000415447|protein_coding|7/20|c.1059+50A>G||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|8/22|c.1059+50A>G||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|8/21|c.1059+50A>G||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|8/20|c.1059+50A>G||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|7/21|c.1059+50A>G||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|8/20|c.1059+50A>G||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|7/19|c.1059+50A>G||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|7/19|c.1059+50A>G||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding|8/12|c.1059+50A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000415756|protein_coding|1/3|c.42+50A>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 29747684 . C T . . ANN=T|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000356015|protein_coding|9/22|c.1059+10G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000356015|protein_coding|8/22|c.1059+10G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000405198|protein_coding|8/22|c.1059+10G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000405198|protein_coding|7/22|c.1059+10G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000317368|protein_coding|9/21|c.1059+10G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000317368|protein_coding|8/21|c.1059+10G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000415447|protein_coding|8/20|c.1059+10G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000415447|protein_coding|7/20|c.1059+10G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|8/22|c.1059+10G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|8/21|c.1059+10G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|8/20|c.1059+10G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|7/21|c.1059+10G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|8/20|c.1059+10G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|7/19|c.1059+10G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|7/19|c.1059+10G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding|8/12|c.1059+10G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000415756|protein_coding|1/3|c.42+10G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 29747700 . G A . . ANN=A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|8/23|c.1053C>T|p.Ile351Ile|1240/4176|1053/2850|351/949||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|8/22|c.1053C>T|p.Ile351Ile|1240/4155|1053/2829|351/942||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|8/21|c.1053C>T|p.Ile351Ile|1240/4146|1053/2820|351/939||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|7/22|c.1053C>T|p.Ile351Ile|1085/3838|1053/2850|351/949||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|8/21|c.1053C>T|p.Ile351Ile|1240/3903|1053/2760|351/919||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|7/20|c.1053C>T|p.Ile351Ile|1085/2935|1053/2820|351/939||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|7/20|c.1053C>T|p.Ile351Ile|1071/2838|1053/2820|351/939||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding|8/13|c.1053C>T|p.Ile351Ile|1227/1908|1053/1734|351/577||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000415756|protein_coding|1/4|c.36C>T|p.Ile12Ile|37/519|36/518|12/171||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000356015|protein_coding|9/22|c.1053C>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000356015|protein_coding|8/22|c.1053C>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000405198|protein_coding|8/22|c.1053C>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000405198|protein_coding|7/22|c.1053C>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000317368|protein_coding|9/21|c.1053C>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000317368|protein_coding|8/21|c.1053C>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000415447|protein_coding|8/20|c.1053C>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000415447|protein_coding|7/20|c.1053C>T|||||| 22 29747766 . G A . . ANN=A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|8/23|c.987C>T|p.Asn329Asn|1174/4176|987/2850|329/949||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|8/22|c.987C>T|p.Asn329Asn|1174/4155|987/2829|329/942||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|8/21|c.987C>T|p.Asn329Asn|1174/4146|987/2820|329/939||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|7/22|c.987C>T|p.Asn329Asn|1019/3838|987/2850|329/949||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|8/21|c.987C>T|p.Asn329Asn|1174/3903|987/2760|329/919||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|7/20|c.987C>T|p.Asn329Asn|1019/2935|987/2820|329/939||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|7/20|c.987C>T|p.Asn329Asn|1005/2838|987/2820|329/939||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding|8/13|c.987C>T|p.Asn329Asn|1161/1908|987/1734|329/577||WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000415756|protein_coding||c.-2C>T|||||30|WARNING_TRANSCRIPT_INCOMPLETE 22 29747778 . G A . . ANN=A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|8/23|c.975C>T|p.Phe325Phe|1162/4176|975/2850|325/949||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|8/22|c.975C>T|p.Phe325Phe|1162/4155|975/2829|325/942||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|8/21|c.975C>T|p.Phe325Phe|1162/4146|975/2820|325/939||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|7/22|c.975C>T|p.Phe325Phe|1007/3838|975/2850|325/949||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|8/21|c.975C>T|p.Phe325Phe|1162/3903|975/2760|325/919||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|7/20|c.975C>T|p.Phe325Phe|1007/2935|975/2820|325/939||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|7/20|c.975C>T|p.Phe325Phe|993/2838|975/2820|325/939||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding|8/13|c.975C>T|p.Phe325Phe|1149/1908|975/1734|325/577||WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000415756|protein_coding||c.-2C>T|||||42|WARNING_TRANSCRIPT_INCOMPLETE 22 29750596 . C A . . ANN=A|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000415756|protein_coding||c.-2G>T|||||2860|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|7/22|c.938+43G>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|7/21|c.938+43G>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|7/20|c.938+43G>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|6/21|c.938+43G>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|7/20|c.938+43G>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|6/19|c.938+43G>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|6/19|c.938+43G>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding|7/12|c.938+43G>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 29750602 . G A . . ANN=A|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000415756|protein_coding||c.-2C>T|||||2866|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|7/22|c.938+37C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|7/21|c.938+37C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|7/20|c.938+37C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|6/21|c.938+37C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|7/20|c.938+37C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|6/19|c.938+37C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|6/19|c.938+37C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding|7/12|c.938+37C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 29750620 . C T . . ANN=T|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000415756|protein_coding||c.-2G>A|||||2884|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|7/22|c.938+19G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|7/21|c.938+19G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|7/20|c.938+19G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|6/21|c.938+19G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|7/20|c.938+19G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|6/19|c.938+19G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|6/19|c.938+19G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding|7/12|c.938+19G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 29750695 . G A . . ANN=A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|7/23|c.882C>T|p.Ala294Ala|1069/4176|882/2850|294/949||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|7/22|c.882C>T|p.Ala294Ala|1069/4155|882/2829|294/942||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|7/21|c.882C>T|p.Ala294Ala|1069/4146|882/2820|294/939||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|6/22|c.882C>T|p.Ala294Ala|914/3838|882/2850|294/949||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|7/21|c.882C>T|p.Ala294Ala|1069/3903|882/2760|294/919||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|6/20|c.882C>T|p.Ala294Ala|914/2935|882/2820|294/939||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|6/20|c.882C>T|p.Ala294Ala|900/2838|882/2820|294/939||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding|7/13|c.882C>T|p.Ala294Ala|1056/1908|882/1734|294/577||WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000415756|protein_coding||c.-2C>T|||||2959|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000473606|retained_intron||n.*560C>T|||||4967| 22 29750757 . A G . . ANN=G|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|7/23|c.820T>C|p.Leu274Leu|1007/4176|820/2850|274/949||,G|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|7/22|c.820T>C|p.Leu274Leu|1007/4155|820/2829|274/942||,G|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|7/21|c.820T>C|p.Leu274Leu|1007/4146|820/2820|274/939||,G|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|6/22|c.820T>C|p.Leu274Leu|852/3838|820/2850|274/949||,G|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|7/21|c.820T>C|p.Leu274Leu|1007/3903|820/2760|274/919||,G|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|6/20|c.820T>C|p.Leu274Leu|852/2935|820/2820|274/939||,G|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|6/20|c.820T>C|p.Leu274Leu|838/2838|820/2820|274/939||,G|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding|7/13|c.820T>C|p.Leu274Leu|994/1908|820/1734|274/577||WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000415756|protein_coding||c.-2T>C|||||3021|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000473606|retained_intron||n.*560T>C|||||4905| 22 29752399 . C T . . ANN=T|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000356015|protein_coding|7/22|c.716+16G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000356015|protein_coding|6/22|c.716+16G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000405198|protein_coding|6/22|c.716+16G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000405198|protein_coding|5/22|c.716+16G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000317368|protein_coding|7/21|c.716+16G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000317368|protein_coding|6/21|c.716+16G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000415447|protein_coding|6/20|c.716+16G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000415447|protein_coding|5/20|c.716+16G>A||||||,T|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000415756|protein_coding||c.-2G>A|||||4663|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000473606|retained_intron||n.*560G>A|||||3263|,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|6/22|c.716+16G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|6/21|c.716+16G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|6/20|c.716+16G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|5/21|c.716+16G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|6/20|c.716+16G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|5/19|c.716+16G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|5/19|c.716+16G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding|6/12|c.716+16G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 29752404 . A C . . ANN=C|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000356015|protein_coding|7/22|c.716+11T>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000356015|protein_coding|6/22|c.716+11T>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000405198|protein_coding|6/22|c.716+11T>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000405198|protein_coding|5/22|c.716+11T>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000317368|protein_coding|7/21|c.716+11T>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000317368|protein_coding|6/21|c.716+11T>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000415447|protein_coding|6/20|c.716+11T>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000415447|protein_coding|5/20|c.716+11T>G||||||,C|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000415756|protein_coding||c.-2T>G|||||4668|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000473606|retained_intron||n.*560T>G|||||3258|,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|6/22|c.716+11T>G||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|6/21|c.716+11T>G||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|6/20|c.716+11T>G||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|5/21|c.716+11T>G||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|6/20|c.716+11T>G||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|5/19|c.716+11T>G||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|5/19|c.716+11T>G||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding|6/12|c.716+11T>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 29752566 . C T . . ANN=T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|6/23|c.565G>A|p.Glu189Lys|752/4176|565/2850|189/949||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|6/22|c.565G>A|p.Glu189Lys|752/4155|565/2829|189/942||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|6/21|c.565G>A|p.Glu189Lys|752/4146|565/2820|189/939||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|5/22|c.565G>A|p.Glu189Lys|597/3838|565/2850|189/949||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|6/21|c.565G>A|p.Glu189Lys|752/3903|565/2760|189/919||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|5/20|c.565G>A|p.Glu189Lys|597/2935|565/2820|189/939||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|5/20|c.565G>A|p.Glu189Lys|583/2838|565/2820|189/939||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding|6/13|c.565G>A|p.Glu189Lys|739/1908|565/1734|189/577||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000356015|protein_coding|5/22|c.565G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000356015|protein_coding|6/22|c.565G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000405198|protein_coding|4/22|c.565G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000405198|protein_coding|5/22|c.565G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000317368|protein_coding|5/21|c.565G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000317368|protein_coding|6/21|c.565G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000415447|protein_coding|4/20|c.565G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000415447|protein_coding|5/20|c.565G>A||||||,T|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000415756|protein_coding||c.-2G>A|||||4830|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000473606|retained_intron||n.*560G>A|||||3096| 22 29752621 . G A . . ANN=A|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000356015|protein_coding|5/22|c.526-16C>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000356015|protein_coding|6/22|c.526-16C>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000405198|protein_coding|4/22|c.526-16C>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000405198|protein_coding|5/22|c.526-16C>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000317368|protein_coding|5/21|c.526-16C>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000317368|protein_coding|6/21|c.526-16C>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000415447|protein_coding|4/20|c.526-16C>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000415447|protein_coding|5/20|c.526-16C>T||||||,A|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000415756|protein_coding||c.-2C>T|||||4885|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000473606|retained_intron||n.*560C>T|||||3041|,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|5/22|c.526-16C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|5/21|c.526-16C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|5/20|c.526-16C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|4/21|c.526-16C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|5/20|c.526-16C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|4/19|c.526-16C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|4/19|c.526-16C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding|5/12|c.526-16C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 29754665 . A C . . ANN=C|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000356015|protein_coding|5/22|c.525+50T>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000356015|protein_coding|6/22|c.525+50T>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000405198|protein_coding|4/22|c.525+50T>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000405198|protein_coding|5/22|c.525+50T>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000317368|protein_coding|5/21|c.525+50T>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000317368|protein_coding|6/21|c.525+50T>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000415447|protein_coding|4/20|c.525+50T>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000415447|protein_coding|5/20|c.525+50T>G||||||,C|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000473606|retained_intron||n.*560T>G|||||997|,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|5/22|c.525+50T>G||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|5/21|c.525+50T>G||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|5/20|c.525+50T>G||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|4/21|c.525+50T>G||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|5/20|c.525+50T>G||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|4/19|c.525+50T>G||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|4/19|c.525+50T>G||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding|5/12|c.525+50T>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 29754707 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|5/22|c.525+8A>G||||||,C|splice_region_variant&intron_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|5/21|c.525+8A>G||||||,C|splice_region_variant&intron_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|5/20|c.525+8A>G||||||,C|splice_region_variant&intron_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|4/21|c.525+8A>G||||||,C|splice_region_variant&intron_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|5/20|c.525+8A>G||||||,C|splice_region_variant&intron_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|4/19|c.525+8A>G||||||,C|splice_region_variant&intron_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|4/19|c.525+8A>G||||||,C|splice_region_variant&intron_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding|5/12|c.525+8A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000356015|protein_coding|5/22|c.525+8A>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000356015|protein_coding|6/22|c.525+8A>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000405198|protein_coding|4/22|c.525+8A>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000405198|protein_coding|5/22|c.525+8A>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000317368|protein_coding|5/21|c.525+8A>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000317368|protein_coding|6/21|c.525+8A>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000415447|protein_coding|4/20|c.525+8A>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000415447|protein_coding|5/20|c.525+8A>G||||||,C|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000473606|retained_intron||n.*560A>G|||||955| 22 29754721 . G T . . ANN=T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|5/23|c.519C>A|p.Asn173Lys|706/4176|519/2850|173/949||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|5/22|c.519C>A|p.Asn173Lys|706/4155|519/2829|173/942||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|5/21|c.519C>A|p.Asn173Lys|706/4146|519/2820|173/939||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|4/22|c.519C>A|p.Asn173Lys|551/3838|519/2850|173/949||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|5/21|c.519C>A|p.Asn173Lys|706/3903|519/2760|173/919||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|4/20|c.519C>A|p.Asn173Lys|551/2935|519/2820|173/939||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|4/20|c.519C>A|p.Asn173Lys|537/2838|519/2820|173/939||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding|5/13|c.519C>A|p.Asn173Lys|693/1908|519/1734|173/577||WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000473606|retained_intron||n.*560C>A|||||941| 22 29754730 . G A . . ANN=A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|5/23|c.510C>T|p.Ser170Ser|697/4176|510/2850|170/949||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|5/22|c.510C>T|p.Ser170Ser|697/4155|510/2829|170/942||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|5/21|c.510C>T|p.Ser170Ser|697/4146|510/2820|170/939||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|4/22|c.510C>T|p.Ser170Ser|542/3838|510/2850|170/949||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|5/21|c.510C>T|p.Ser170Ser|697/3903|510/2760|170/919||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|4/20|c.510C>T|p.Ser170Ser|542/2935|510/2820|170/939||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|4/20|c.510C>T|p.Ser170Ser|528/2838|510/2820|170/939||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding|5/13|c.510C>T|p.Ser170Ser|684/1908|510/1734|170/577||WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000473606|retained_intron||n.*560C>T|||||932| 22 29754770 . T C . . ANN=C|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|5/23|c.470A>G|p.Glu157Gly|657/4176|470/2850|157/949||,C|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|5/22|c.470A>G|p.Glu157Gly|657/4155|470/2829|157/942||,C|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|5/21|c.470A>G|p.Glu157Gly|657/4146|470/2820|157/939||,C|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|4/22|c.470A>G|p.Glu157Gly|502/3838|470/2850|157/949||,C|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|5/21|c.470A>G|p.Glu157Gly|657/3903|470/2760|157/919||,C|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|4/20|c.470A>G|p.Glu157Gly|502/2935|470/2820|157/939||,C|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|4/20|c.470A>G|p.Glu157Gly|488/2838|470/2820|157/939||,C|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding|5/13|c.470A>G|p.Glu157Gly|644/1908|470/1734|157/577||WARNING_TRANSCRIPT_NO_STOP_CODON,C|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000356015|protein_coding|5/22|c.470A>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000405198|protein_coding|4/22|c.470A>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000317368|protein_coding|5/21|c.470A>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000415447|protein_coding|4/20|c.470A>G||||||,C|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000473606|retained_intron||n.*560A>G|||||892| 22 29754793 . G A . . ANN=A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|5/23|c.447C>T|p.His149His|634/4176|447/2850|149/949||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|5/22|c.447C>T|p.His149His|634/4155|447/2829|149/942||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|5/21|c.447C>T|p.His149His|634/4146|447/2820|149/939||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|4/22|c.447C>T|p.His149His|479/3838|447/2850|149/949||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|5/21|c.447C>T|p.His149His|634/3903|447/2760|149/919||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|4/20|c.447C>T|p.His149His|479/2935|447/2820|149/939||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|4/20|c.447C>T|p.His149His|465/2838|447/2820|149/939||,A|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding|5/13|c.447C>T|p.His149His|621/1908|447/1734|149/577||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000356015|protein_coding|5/22|c.447C>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000405198|protein_coding|4/22|c.447C>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000317368|protein_coding|5/21|c.447C>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000415447|protein_coding|4/20|c.447C>T||||||,A|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000473606|retained_intron||n.*560C>T|||||869| 22 29754937 . G T . . ANN=T|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|5/23|c.303C>A|p.Leu101Leu|490/4176|303/2850|101/949||,T|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|5/22|c.303C>A|p.Leu101Leu|490/4155|303/2829|101/942||,T|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|5/21|c.303C>A|p.Leu101Leu|490/4146|303/2820|101/939||,T|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|4/22|c.303C>A|p.Leu101Leu|335/3838|303/2850|101/949||,T|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|5/21|c.303C>A|p.Leu101Leu|490/3903|303/2760|101/919||,T|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|4/20|c.303C>A|p.Leu101Leu|335/2935|303/2820|101/939||,T|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|4/20|c.303C>A|p.Leu101Leu|321/2838|303/2820|101/939||,T|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding|5/13|c.303C>A|p.Leu101Leu|477/1908|303/1734|101/577||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000356015|protein_coding|5/22|c.303C>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000405198|protein_coding|4/22|c.303C>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000317368|protein_coding|5/21|c.303C>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000415447|protein_coding|4/20|c.303C>A||||||,T|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000473606|retained_intron||n.*560C>A|||||725| 22 29754996 . G A . . ANN=A|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000356015|protein_coding|5/22|c.280-36C>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000356015|protein_coding|4/22|c.280-36C>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000405198|protein_coding|4/22|c.280-36C>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000405198|protein_coding|3/22|c.280-36C>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000317368|protein_coding|5/21|c.280-36C>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000317368|protein_coding|4/21|c.280-36C>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000415447|protein_coding|4/20|c.280-36C>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000415447|protein_coding|3/20|c.280-36C>T||||||,A|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000473606|retained_intron||n.*560C>T|||||666|,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|4/22|c.280-36C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|4/21|c.280-36C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|4/20|c.280-36C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|3/21|c.280-36C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|4/20|c.280-36C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|3/19|c.280-36C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|3/19|c.280-36C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding|4/12|c.280-36C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 29755802 . C T . . ANN=T|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000356015|protein_coding|5/22|c.279+11G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000356015|protein_coding|4/22|c.279+11G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000405198|protein_coding|4/22|c.279+11G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000405198|protein_coding|3/22|c.279+11G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000317368|protein_coding|5/21|c.279+11G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000317368|protein_coding|4/21|c.279+11G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000415447|protein_coding|4/20|c.279+11G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000415447|protein_coding|3/20|c.279+11G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|4/22|c.279+11G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|4/21|c.279+11G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|4/20|c.279+11G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|3/21|c.279+11G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|4/20|c.279+11G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|3/19|c.279+11G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|3/19|c.279+11G>A||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding|4/12|c.279+11G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000473606|retained_intron|4/4|n.420G>A|||||| 22 29755803 . G A . . ANN=A|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000356015|protein_coding|5/22|c.279+10C>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000356015|protein_coding|4/22|c.279+10C>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000405198|protein_coding|4/22|c.279+10C>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000405198|protein_coding|3/22|c.279+10C>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000317368|protein_coding|5/21|c.279+10C>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000317368|protein_coding|4/21|c.279+10C>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000415447|protein_coding|4/20|c.279+10C>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000415447|protein_coding|3/20|c.279+10C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|4/22|c.279+10C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|4/21|c.279+10C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|4/20|c.279+10C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|3/21|c.279+10C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|4/20|c.279+10C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|3/19|c.279+10C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|3/19|c.279+10C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding|4/12|c.279+10C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000473606|retained_intron|4/4|n.419C>T|||||| 22 29755888 . T C . . ANN=C|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|4/23|c.204A>G|p.Leu68Leu|391/4176|204/2850|68/949||,C|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|4/22|c.204A>G|p.Leu68Leu|391/4155|204/2829|68/942||,C|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|4/21|c.204A>G|p.Leu68Leu|391/4146|204/2820|68/939||,C|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|3/22|c.204A>G|p.Leu68Leu|236/3838|204/2850|68/949||,C|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|4/21|c.204A>G|p.Leu68Leu|391/3903|204/2760|68/919||,C|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|3/20|c.204A>G|p.Leu68Leu|236/2935|204/2820|68/939||,C|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|3/20|c.204A>G|p.Leu68Leu|222/2838|204/2820|68/939||,C|synonymous_variant|LOW|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding|4/13|c.204A>G|p.Leu68Leu|378/1908|204/1734|68/577||WARNING_TRANSCRIPT_NO_STOP_CODON,C|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000356015|protein_coding|4/22|c.204A>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000405198|protein_coding|3/22|c.204A>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000317368|protein_coding|4/21|c.204A>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000415447|protein_coding|3/20|c.204A>G||||||,C|non_coding_exon_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000473606|retained_intron|4/4|n.334A>G|||||| 22 29755964 . G A . . ANN=A|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000356015|protein_coding|3/22|c.144-16C>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000356015|protein_coding|4/22|c.144-16C>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000405198|protein_coding|2/22|c.144-16C>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000405198|protein_coding|3/22|c.144-16C>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000317368|protein_coding|3/21|c.144-16C>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000317368|protein_coding|4/21|c.144-16C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|3/22|c.144-16C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|3/21|c.144-16C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|3/20|c.144-16C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|2/21|c.144-16C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|3/20|c.144-16C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|2/19|c.144-16C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|2/19|c.144-16C>T||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding|3/12|c.144-16C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000473606|retained_intron|3/3|n.274-16C>T|||||| 22 29834741 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|RFPL1|ENSG00000128250|transcript|ENST00000354373|protein_coding|1/2|c.-40G>A|||||40|,A|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000539579|antisense||n.*584C>T|||||2503|,A|non_coding_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000461286|antisense|3/3|n.3685C>T|||||| 22 29834747 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|RFPL1|ENSG00000128250|transcript|ENST00000354373|protein_coding|1/2|c.-34G>A|||||34|,A|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000539579|antisense||n.*584C>T|||||2497|,A|non_coding_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000461286|antisense|3/3|n.3679C>T|||||| 22 29834766 . A G . . ANN=G|5_prime_UTR_variant|MODIFIER|RFPL1|ENSG00000128250|transcript|ENST00000354373|protein_coding|1/2|c.-15A>G|||||15|,G|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000539579|antisense||n.*584T>C|||||2478|,G|non_coding_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000461286|antisense|3/3|n.3660T>C|||||| 22 29834957 . C T . . ANN=T|synonymous_variant|LOW|RFPL1|ENSG00000128250|transcript|ENST00000354373|protein_coding|1/2|c.177C>T|p.Val59Val|386/1496|177/954|59/317||,T|sequence_feature|LOW|RFPL1|ENSG00000128250|zinc_finger_region:RING-type|ENST00000354373|protein_coding|1/2|c.177C>T||||||,T|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000539579|antisense||n.*584G>A|||||2287|,T|non_coding_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000461286|antisense|3/3|n.3469G>A|||||| 22 29834993 . C G . . ANN=G|synonymous_variant|LOW|RFPL1|ENSG00000128250|transcript|ENST00000354373|protein_coding|1/2|c.213C>G|p.Pro71Pro|422/1496|213/954|71/317||,G|sequence_feature|LOW|RFPL1|ENSG00000128250|zinc_finger_region:RING-type|ENST00000354373|protein_coding|1/2|c.213C>G||||||,G|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000539579|antisense||n.*584G>C|||||2251|,G|non_coding_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000461286|antisense|3/3|n.3433G>C|||||| 22 29835060 . T C . . ANN=C|missense_variant|MODERATE|RFPL1|ENSG00000128250|transcript|ENST00000354373|protein_coding|1/2|c.280T>C|p.Trp94Arg|489/1496|280/954|94/317||,C|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000539579|antisense||n.*584A>G|||||2184|,C|non_coding_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000461286|antisense|3/3|n.3366A>G|||||| 22 29835175 . C T . . ANN=T|sequence_feature|LOW|RFPL1|ENSG00000128250|domain:B30.2/SPRY|ENST00000354373|protein_coding|1/2|c.373+22C>T||||||,T|sequence_feature|LOW|RFPL1|ENSG00000128250|domain:B30.2/SPRY|ENST00000354373|protein_coding|2/2|c.373+22C>T||||||,T|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000539579|antisense||n.*584G>A|||||2069|,T|intron_variant|MODIFIER|RFPL1|ENSG00000128250|transcript|ENST00000354373|protein_coding|1/1|c.373+22C>T||||||,T|non_coding_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000461286|antisense|3/3|n.3251G>A|||||| 22 29835187 . G A . . ANN=A|sequence_feature|LOW|RFPL1|ENSG00000128250|domain:B30.2/SPRY|ENST00000354373|protein_coding|1/2|c.373+34G>A||||||,A|sequence_feature|LOW|RFPL1|ENSG00000128250|domain:B30.2/SPRY|ENST00000354373|protein_coding|2/2|c.373+34G>A||||||,A|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000539579|antisense||n.*584C>T|||||2057|,A|intron_variant|MODIFIER|RFPL1|ENSG00000128250|transcript|ENST00000354373|protein_coding|1/1|c.373+34G>A||||||,A|non_coding_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000461286|antisense|3/3|n.3239C>T|||||| 22 29837564 . ACTT A . . ANN=|inframe_deletion|MODERATE|RFPL1|ENSG00000128250|transcript|ENST00000354373|protein_coding|2/2|c.409_411delTTC|p.Phe137del|618/1496|409/954|137/317||INFO_REALIGN_3_PRIME,|sequence_feature|LOW|RFPL1|ENSG00000128250|domain:B30.2/SPRY|ENST00000354373|protein_coding|1/2|c.408_410delCTT||||||,|sequence_feature|LOW|RFPL1|ENSG00000128250|domain:B30.2/SPRY|ENST00000354373|protein_coding|2/2|c.408_410delCTT||||||,|non_coding_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000461286|antisense|3/3|n.859_861delAAG||||||,|non_coding_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000539579|antisense|1/1|n.261_263delAAG|||||| 22 29837566 . TTCC T . . ANN=|inframe_deletion|MODERATE|RFPL1|ENSG00000128250|transcript|ENST00000354373|protein_coding|2/2|c.415_417delCTC|p.Leu139del|624/1496|415/954|139/317||INFO_REALIGN_3_PRIME,|sequence_feature|LOW|RFPL1|ENSG00000128250|domain:B30.2/SPRY|ENST00000354373|protein_coding|1/2|c.410_412delTCC||||||,|sequence_feature|LOW|RFPL1|ENSG00000128250|domain:B30.2/SPRY|ENST00000354373|protein_coding|2/2|c.410_412delTCC||||||,|non_coding_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000461286|antisense|3/3|n.857_859delGGA||||||,|non_coding_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000539579|antisense|1/1|n.259_261delGGA|||||| 22 29837572 . CTCA C . . ANN=|disruptive_inframe_deletion|MODERATE|RFPL1|ENSG00000128250|transcript|ENST00000354373|protein_coding|2/2|c.417_419delCAT|p.Ile140del|626/1496|417/954|139/317||INFO_REALIGN_3_PRIME,|sequence_feature|LOW|RFPL1|ENSG00000128250|domain:B30.2/SPRY|ENST00000354373|protein_coding|1/2|c.416_418delTCA||||||,|sequence_feature|LOW|RFPL1|ENSG00000128250|domain:B30.2/SPRY|ENST00000354373|protein_coding|2/2|c.416_418delTCA||||||,|non_coding_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000461286|antisense|3/3|n.851_853delTGA||||||,|non_coding_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000539579|antisense|1/1|n.253_255delTGA|||||| 22 29837583 . C T . . ANN=T|synonymous_variant|LOW|RFPL1|ENSG00000128250|transcript|ENST00000354373|protein_coding|2/2|c.426C>T|p.Asp142Asp|635/1496|426/954|142/317||,T|sequence_feature|LOW|RFPL1|ENSG00000128250|domain:B30.2/SPRY|ENST00000354373|protein_coding|1/2|c.426C>T||||||,T|sequence_feature|LOW|RFPL1|ENSG00000128250|domain:B30.2/SPRY|ENST00000354373|protein_coding|2/2|c.426C>T||||||,T|non_coding_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000461286|antisense|3/3|n.843G>A||||||,T|non_coding_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000539579|antisense|1/1|n.245G>A|||||| 22 29837599 . C T . . ANN=T|stop_gained|HIGH|RFPL1|ENSG00000128250|transcript|ENST00000354373|protein_coding|2/2|c.442C>T|p.Arg148*|651/1496|442/954|148/317||,T|sequence_feature|LOW|RFPL1|ENSG00000128250|domain:B30.2/SPRY|ENST00000354373|protein_coding|1/2|c.442C>T||||||,T|sequence_feature|LOW|RFPL1|ENSG00000128250|domain:B30.2/SPRY|ENST00000354373|protein_coding|2/2|c.442C>T||||||,T|non_coding_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000461286|antisense|3/3|n.827G>A||||||,T|non_coding_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000539579|antisense|1/1|n.229G>A|||||| 22 29837638 . G A . . ANN=A|missense_variant|MODERATE|RFPL1|ENSG00000128250|transcript|ENST00000354373|protein_coding|2/2|c.481G>A|p.Glu161Lys|690/1496|481/954|161/317||,A|sequence_feature|LOW|RFPL1|ENSG00000128250|domain:B30.2/SPRY|ENST00000354373|protein_coding|1/2|c.481G>A||||||,A|sequence_feature|LOW|RFPL1|ENSG00000128250|domain:B30.2/SPRY|ENST00000354373|protein_coding|2/2|c.481G>A||||||,A|non_coding_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000461286|antisense|3/3|n.788C>T||||||,A|non_coding_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000539579|antisense|1/1|n.190C>T|||||| 22 29837978 . C T . . ANN=T|missense_variant|MODERATE|RFPL1|ENSG00000128250|transcript|ENST00000354373|protein_coding|2/2|c.821C>T|p.Ser274Phe|1030/1496|821/954|274/317||,T|sequence_feature|LOW|RFPL1|ENSG00000128250|domain:B30.2/SPRY|ENST00000354373|protein_coding|1/2|c.821C>T||||||,T|sequence_feature|LOW|RFPL1|ENSG00000128250|domain:B30.2/SPRY|ENST00000354373|protein_coding|2/2|c.821C>T||||||,T|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000539579|antisense||n.-1G>A|||||151|,T|non_coding_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000461286|antisense|3/3|n.448G>A|||||| 22 29838068 . C T . . ANN=T|missense_variant|MODERATE|RFPL1|ENSG00000128250|transcript|ENST00000354373|protein_coding|2/2|c.911C>T|p.Pro304Leu|1120/1496|911/954|304/317||,T|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000539579|antisense||n.-1G>A|||||241|,T|non_coding_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000461286|antisense|3/3|n.358G>A|||||| 22 29838088 . G T . . ANN=T|missense_variant|MODERATE|RFPL1|ENSG00000128250|transcript|ENST00000354373|protein_coding|2/2|c.931G>T|p.Val311Phe|1140/1496|931/954|311/317||,T|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000539579|antisense||n.-1C>A|||||261|,T|non_coding_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000461286|antisense|3/3|n.338C>A|||||| 22 29838141 . T G . . ANN=G|3_prime_UTR_variant|MODIFIER|RFPL1|ENSG00000128250|transcript|ENST00000354373|protein_coding|2/2|c.*30T>G|||||30|,G|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000539579|antisense||n.-1A>C|||||314|,G|intron_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000461286|antisense|2/2|n.308-23A>C|||||| 22 29876272 . G A . . ANN=A|synonymous_variant|LOW|NEFH|ENSG00000100285|transcript|ENST00000310624|protein_coding|1/4|c.21G>A|p.Ala7Ala|54/3783|21/3063|7/1020||,A|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000461286|antisense||n.-1C>T|||||2108|,A|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000419368|antisense||n.-1C>T|||||2213| 22 29876374 . T C . . ANN=C|synonymous_variant|LOW|NEFH|ENSG00000100285|transcript|ENST00000310624|protein_coding|1/4|c.123T>C|p.Ala41Ala|156/3783|123/3063|41/1020||,C|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000461286|antisense||n.-1A>G|||||2210|,C|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000419368|antisense||n.-1A>G|||||2315| 22 29876548 . G A . . ANN=A|synonymous_variant|LOW|NEFH|ENSG00000100285|transcript|ENST00000310624|protein_coding|1/4|c.297G>A|p.Glu99Glu|330/3783|297/3063|99/1020||,A|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000461286|antisense||n.-1C>T|||||2384|,A|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000419368|antisense||n.-1C>T|||||2489| 22 29876806 . A C . . ANN=C|synonymous_variant|LOW|NEFH|ENSG00000100285|transcript|ENST00000310624|protein_coding|1/4|c.555A>C|p.Leu185Leu|588/3783|555/3063|185/1020||,C|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000461286|antisense||n.-1T>G|||||2642|,C|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000419368|antisense||n.-1T>G|||||2747| 22 29877010 . G T . . ANN=T|synonymous_variant|LOW|NEFH|ENSG00000100285|transcript|ENST00000310624|protein_coding|1/4|c.759G>T|p.Ala253Ala|792/3783|759/3063|253/1020||,T|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000461286|antisense||n.-1C>A|||||2846|,T|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000419368|antisense||n.-1C>A|||||2951| 22 29877061 . G C . . ANN=C|synonymous_variant|LOW|NEFH|ENSG00000100285|transcript|ENST00000310624|protein_coding|1/4|c.810G>C|p.Ala270Ala|843/3783|810/3063|270/1020||,C|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000461286|antisense||n.-1C>G|||||2897|,C|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000419368|antisense||n.-1C>G|||||3002| 22 29879534 . C A . . ANN=A|missense_variant|MODERATE|NEFH|ENSG00000100285|transcript|ENST00000310624|protein_coding|2/4|c.1054C>A|p.Arg352Ser|1087/3783|1054/3063|352/1020|| 22 29881828 . C T . . ANN=T|synonymous_variant|LOW|NEFH|ENSG00000100285|transcript|ENST00000310624|protein_coding|3/4|c.1200C>T|p.Ala400Ala|1233/3783|1200/3063|400/1020|| 22 29881844 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|NEFH|ENSG00000100285|transcript|ENST00000310624|protein_coding|3/3|c.1208+8G>A|||||| 22 29881863 . G C . . ANN=C|intron_variant|MODIFIER|NEFH|ENSG00000100285|transcript|ENST00000310624|protein_coding|3/3|c.1208+27G>C|||||| 22 29881877 . T G . . ANN=G|intron_variant|MODIFIER|NEFH|ENSG00000100285|transcript|ENST00000310624|protein_coding|3/3|c.1208+41T>G|||||| 22 29881884 . G A . . ANN=A|intron_variant|MODIFIER|NEFH|ENSG00000100285|transcript|ENST00000310624|protein_coding|3/3|c.1208+48G>A|||||| 22 29884863 . C T . . ANN=T|missense_variant|MODERATE|NEFH|ENSG00000100285|transcript|ENST00000310624|protein_coding|4/4|c.1234C>T|p.Arg412Trp|1267/3783|1234/3063|412/1020|| 22 29884976 . G C . . ANN=C|missense_variant|MODERATE|NEFH|ENSG00000100285|transcript|ENST00000310624|protein_coding|4/4|c.1347G>C|p.Lys449Asn|1380/3783|1347/3063|449/1020|| 22 29885016 . G A . . ANN=A|missense_variant|MODERATE|NEFH|ENSG00000100285|transcript|ENST00000310624|protein_coding|4/4|c.1387G>A|p.Glu463Lys|1420/3783|1387/3063|463/1020|| 22 29885075 . G A . . ANN=A|synonymous_variant|LOW|NEFH|ENSG00000100285|transcript|ENST00000310624|protein_coding|4/4|c.1446G>A|p.Glu482Glu|1479/3783|1446/3063|482/1020|| 22 29885127 . G GAAACAA . . ANN=AACAAA|disruptive_inframe_insertion|MODERATE|NEFH|ENSG00000100285|transcript|ENST00000310624|protein_coding|4/4|c.1500_1505dupAACAAA|p.Thr501_Lys502dup|1539/3783|1506/3063|502/1020||INFO_REALIGN_3_PRIME 22 29885256 . G A . . ANN=A|missense_variant|MODERATE|NEFH|ENSG00000100285|transcript|ENST00000310624|protein_coding|4/4|c.1627G>A|p.Glu543Lys|1660/3783|1627/3063|543/1020|| 22 29885352 . C T . . ANN=T|missense_variant|MODERATE|NEFH|ENSG00000100285|transcript|ENST00000310624|protein_coding|4/4|c.1723C>T|p.Pro575Ser|1756/3783|1723/3063|575/1020|| 22 29885368 . C T . . ANN=T|missense_variant|MODERATE|NEFH|ENSG00000100285|transcript|ENST00000310624|protein_coding|4/4|c.1739C>T|p.Ser580Phe|1772/3783|1739/3063|580/1020|| 22 29885369 . C T . . ANN=T|synonymous_variant|LOW|NEFH|ENSG00000100285|transcript|ENST00000310624|protein_coding|4/4|c.1740C>T|p.Ser580Ser|1773/3783|1740/3063|580/1020|| 22 29885412 . C T . . ANN=T|missense_variant|MODERATE|NEFH|ENSG00000100285|transcript|ENST00000310624|protein_coding|4/4|c.1783C>T|p.Pro595Ser|1816/3783|1783/3063|595/1020|| 22 29885543 . CAAGTCTCCAACGAAGGAGGAAGCA C . . ANN=|disruptive_inframe_deletion|MODERATE|NEFH|ENSG00000100285|transcript|ENST00000310624|protein_coding|4/4|c.1920_1943delTCCAACGAAGGAGGAAGCAAAGTC|p.Pro641_Ser648del|1953/3783|1920/3063|640/1020||INFO_REALIGN_3_PRIME 22 29885569 . A AGTCCCCTGAGAAGGCCAA . . ANN=TGAGAAGGCCAAGTCCCC|disruptive_inframe_insertion|MODERATE|NEFH|ENSG00000100285|transcript|ENST00000310624|protein_coding|4/4|c.1947_1964dupTGAGAAGGCCAAGTCCCC|p.Glu650_Pro655dup|1998/3783|1965/3063|655/1020||INFO_REALIGN_3_PRIME 22 29885580 . AAGGCCAAGTCCCCAGAGAAGGAAG A . . ANN=|disruptive_inframe_deletion|MODERATE|NEFH|ENSG00000100285|transcript|ENST00000310624|protein_coding|4/4|c.1965_1988delAGAGAAGGAAGAGGCCAAGTCCCC|p.Glu656_Pro663del|1998/3783|1965/3063|655/1020||INFO_REALIGN_3_PRIME 22 29885598 . AAGGAAG A . . ANN=|disruptive_inframe_deletion|MODERATE|NEFH|ENSG00000100285|transcript|ENST00000310624|protein_coding|4/4|c.1973_1978delAAGAGG|p.Glu658_Glu659del|2006/3783|1973/3063|658/1020||INFO_REALIGN_3_PRIME 22 29885735 . AAAGTCCCCTGAGAAGGCC A . . ANN=|disruptive_inframe_deletion|MODERATE|NEFH|ENSG00000100285|transcript|ENST00000310624|protein_coding|4/4|c.2115_2132delTGAGAAGGCCAAGTCCCC|p.Glu706_Pro711del|2148/3783|2115/3063|705/1020||INFO_REALIGN_3_PRIME 22 29885777 . AAAGTCCCCTGAGAAGGCC A . . ANN=|disruptive_inframe_deletion|MODERATE|NEFH|ENSG00000100285|transcript|ENST00000310624|protein_coding|4/4|c.2157_2174delTGAGAAGGCCAAGTCCCC|p.Glu720_Pro725del|2190/3783|2157/3063|719/1020||INFO_REALIGN_3_PRIME 22 29885936 . A C . . ANN=C|synonymous_variant|LOW|NEFH|ENSG00000100285|transcript|ENST00000310624|protein_coding|4/4|c.2307A>C|p.Pro769Pro|2340/3783|2307/3063|769/1020|| 22 29885956 . C G . . ANN=G|missense_variant|MODERATE|NEFH|ENSG00000100285|transcript|ENST00000310624|protein_coding|4/4|c.2327C>G|p.Ser776Cys|2360/3783|2327/3063|776/1020|| 22 29886043 . A C . . ANN=C|missense_variant|MODERATE|NEFH|ENSG00000100285|transcript|ENST00000310624|protein_coding|4/4|c.2414A>C|p.Glu805Ala|2447/3783|2414/3063|805/1020|| 22 29886118 . C T . . ANN=T|missense_variant|MODERATE|NEFH|ENSG00000100285|transcript|ENST00000310624|protein_coding|4/4|c.2489C>T|p.Pro830Leu|2522/3783|2489/3063|830/1020|| 22 29886158 . G A . . ANN=A|synonymous_variant|LOW|NEFH|ENSG00000100285|transcript|ENST00000310624|protein_coding|4/4|c.2529G>A|p.Glu843Glu|2562/3783|2529/3063|843/1020|| 22 29886200 . G A . . ANN=A|synonymous_variant|LOW|NEFH|ENSG00000100285|transcript|ENST00000310624|protein_coding|4/4|c.2571G>A|p.Lys857Lys|2604/3783|2571/3063|857/1020|| 22 29886341 . C T . . ANN=T|synonymous_variant|LOW|NEFH|ENSG00000100285|transcript|ENST00000310624|protein_coding|4/4|c.2712C>T|p.Pro904Pro|2745/3783|2712/3063|904/1020|| 22 29886343 . C T . . ANN=T|missense_variant|MODERATE|NEFH|ENSG00000100285|transcript|ENST00000310624|protein_coding|4/4|c.2714C>T|p.Thr905Ile|2747/3783|2714/3063|905/1020|| 22 29886382 . A G . . ANN=G|missense_variant|MODERATE|NEFH|ENSG00000100285|transcript|ENST00000310624|protein_coding|4/4|c.2753A>G|p.Glu918Gly|2786/3783|2753/3063|918/1020|| 22 29886386 . C T . . ANN=T|synonymous_variant|LOW|NEFH|ENSG00000100285|transcript|ENST00000310624|protein_coding|4/4|c.2757C>T|p.Asp919Asp|2790/3783|2757/3063|919/1020|| 22 29886406 . C T . . ANN=T|missense_variant|MODERATE|NEFH|ENSG00000100285|transcript|ENST00000310624|protein_coding|4/4|c.2777C>T|p.Thr926Ile|2810/3783|2777/3063|926/1020|| 22 29886413 . A G . . ANN=G|synonymous_variant|LOW|NEFH|ENSG00000100285|transcript|ENST00000310624|protein_coding|4/4|c.2784A>G|p.Val928Val|2817/3783|2784/3063|928/1020|| 22 29886714 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|NEFH|ENSG00000100285|transcript|ENST00000310624|protein_coding|4/4|c.*22G>A|||||22| 22 29904439 . C A . . ANN=A|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|20/20|c.*7G>T|||||7|,A|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|20/20|c.*7G>T|||||7|,A|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|21/21|c.*7G>T|||||7|,A|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|23/23|n.*1146G>T|||||19877|,A|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|19/19|n.*1914G>T|||||34491|,A|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|21/21|c.*7G>T|||||7|,A|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|23/23|n.*1146G>T||||||,A|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000472164|retained_intron|2/2|n.408G>T||||||,A|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|19/19|n.*1914G>T|||||| 22 29904479 . G T . . ANN=T|stop_gained|HIGH|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|20/20|c.2019C>A|p.Tyr673*|2238/2560|2019/2052|673/683||,T|stop_gained|HIGH|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|20/20|c.2019C>A|p.Tyr673*|2142/4753|2019/2052|673/683||,T|stop_gained|HIGH|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|21/21|c.2019C>A|p.Tyr673*|2354/2676|2019/2052|673/683||,T|stop_gained|HIGH|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|21/21|c.2019C>A|p.Tyr673*|2242/2374|2019/2052|673/683||,T|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|23/23|n.*1106C>A|||||19837|,T|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|19/19|n.*1874C>A|||||34451|,T|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|23/23|n.*1106C>A||||||,T|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000472164|retained_intron|2/2|n.368C>A||||||,T|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|19/19|n.*1874C>A|||||| 22 29904515 . G T . . ANN=T|splice_region_variant&intron_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|19/19|c.1989-6C>A||||||,T|splice_region_variant&intron_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|19/19|c.1989-6C>A||||||,T|splice_region_variant&intron_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|20/20|c.1989-6C>A||||||,T|splice_region_variant&intron_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|22/22|n.*1076-6C>A||||||,T|splice_region_variant&intron_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000472164|retained_intron|1/1|n.338-6C>A||||||,T|splice_region_variant&intron_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|18/18|n.*1844-6C>A||||||,T|splice_region_variant&intron_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|20/20|c.1989-6C>A|||||| 22 29904519 . T C . . ANN=C|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|19/19|c.1989-10A>G||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|19/19|c.1989-10A>G||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|20/20|c.1989-10A>G||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|22/22|n.*1076-10A>G||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000472164|retained_intron|1/1|n.338-10A>G||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|18/18|n.*1844-10A>G||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|20/20|c.1989-10A>G|||||| 22 29907077 . C A . . ANN=A|downstream_gene_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic||n.*289G>T|||||2801|,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|19/19|c.1988+18G>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|19/19|c.1988+18G>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|20/20|c.1988+18G>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|22/22|n.*1075+18G>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000472164|retained_intron|1/1|n.337+18G>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|18/18|n.*1843+18G>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|20/20|c.1988+18G>T|||||| 22 29907200 . C T . . ANN=T|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|19/20|c.1883G>A|p.Arg628Gln|2102/2560|1883/2052|628/683||,T|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|19/20|c.1883G>A|p.Arg628Gln|2006/4753|1883/2052|628/683||,T|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|20/21|c.1883G>A|p.Arg628Gln|2218/2676|1883/2052|628/683||,T|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|20/21|c.1883G>A|p.Arg628Gln|2106/2374|1883/2052|628/683||,T|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|22/23|n.*970G>A|||||17116|,T|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|18/19|n.*1738G>A|||||31730|,T|downstream_gene_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic||n.*289G>A|||||2678|,T|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|22/23|n.*970G>A||||||,T|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000472164|retained_intron|1/2|n.232G>A||||||,T|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|18/19|n.*1738G>A|||||| 22 29907273 . C T . . ANN=T|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|19/20|c.1810G>A|p.Glu604Lys|2029/2560|1810/2052|604/683||,T|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|19/20|c.1810G>A|p.Glu604Lys|1933/4753|1810/2052|604/683||,T|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|20/21|c.1810G>A|p.Glu604Lys|2145/2676|1810/2052|604/683||,T|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|20/21|c.1810G>A|p.Glu604Lys|2033/2374|1810/2052|604/683||,T|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|22/23|n.*897G>A|||||17043|,T|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|18/19|n.*1665G>A|||||31657|,T|downstream_gene_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic||n.*289G>A|||||2605|,T|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|22/23|n.*897G>A||||||,T|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000472164|retained_intron|1/2|n.159G>A||||||,T|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|18/19|n.*1665G>A|||||| 22 29907284 . G C . . ANN=C|missense_variant&splice_region_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|19/20|c.1799C>G|p.Ala600Gly|2018/2560|1799/2052|600/683||,C|missense_variant&splice_region_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|19/20|c.1799C>G|p.Ala600Gly|1922/4753|1799/2052|600/683||,C|missense_variant&splice_region_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|20/21|c.1799C>G|p.Ala600Gly|2134/2676|1799/2052|600/683||,C|missense_variant&splice_region_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|20/21|c.1799C>G|p.Ala600Gly|2022/2374|1799/2052|600/683||,C|splice_region_variant&non_coding_exon_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|22/23|n.*886C>G||||||,C|splice_region_variant&non_coding_exon_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|18/19|n.*1654C>G||||||,C|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|22/23|n.*886C>G|||||17032|,C|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|18/19|n.*1654C>G|||||31646|,C|downstream_gene_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic||n.*289C>G|||||2594|,C|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000472164|retained_intron|1/2|n.148C>G|||||| 22 29907322 . T C . . ANN=C|downstream_gene_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic||n.*289A>G|||||2556|,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|18/19|c.1798-37A>G||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|18/19|c.1798-37A>G||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|19/20|c.1798-37A>G||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|21/22|n.*885-37A>G||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|17/18|n.*1653-37A>G||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|19/20|c.1798-37A>G||||||,C|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000472164|retained_intron|1/2|n.110A>G|||||| 22 29907965 . C G . . ANN=G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000472164|retained_intron||n.-1G>C|||||534|,G|downstream_gene_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic||n.*289G>C|||||1913|,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|18/19|c.1797+45G>C||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|18/19|c.1797+45G>C||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|19/20|c.1797+45G>C||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|21/22|n.*884+45G>C||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|17/18|n.*1652+45G>C||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|19/20|c.1797+45G>C|||||| 22 29907987 . T C . . ANN=C|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000472164|retained_intron||n.-1A>G|||||556|,C|downstream_gene_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic||n.*289A>G|||||1891|,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|18/19|c.1797+23A>G||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|18/19|c.1797+23A>G||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|19/20|c.1797+23A>G||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|21/22|n.*884+23A>G||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|17/18|n.*1652+23A>G||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|19/20|c.1797+23A>G|||||| 22 29908002 . G T . . ANN=T|splice_region_variant&intron_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|18/19|c.1797+8C>A||||||,T|splice_region_variant&intron_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|18/19|c.1797+8C>A||||||,T|splice_region_variant&intron_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|19/20|c.1797+8C>A||||||,T|splice_region_variant&intron_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|21/22|n.*884+8C>A||||||,T|splice_region_variant&intron_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|17/18|n.*1652+8C>A||||||,T|splice_region_variant&intron_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|19/20|c.1797+8C>A||||||,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000472164|retained_intron||n.-1C>A|||||571|,T|downstream_gene_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic||n.*289C>A|||||1876| 22 29908025 . G A . . ANN=A|synonymous_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|18/20|c.1782C>T|p.Asn594Asn|2001/2560|1782/2052|594/683||,A|synonymous_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|18/20|c.1782C>T|p.Asn594Asn|1905/4753|1782/2052|594/683||,A|synonymous_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|19/21|c.1782C>T|p.Asn594Asn|2117/2676|1782/2052|594/683||,A|synonymous_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|19/21|c.1782C>T|p.Asn594Asn|2005/2374|1782/2052|594/683||,A|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|21/23|n.*869C>T|||||16291|,A|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|17/19|n.*1637C>T|||||30905|,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000472164|retained_intron||n.-1C>T|||||594|,A|downstream_gene_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic||n.*289C>T|||||1853|,A|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|21/23|n.*869C>T||||||,A|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|17/19|n.*1637C>T|||||| 22 29908072 . C T . . ANN=T|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|18/20|c.1735G>A|p.Val579Ile|1954/2560|1735/2052|579/683||,T|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|18/20|c.1735G>A|p.Val579Ile|1858/4753|1735/2052|579/683||,T|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|19/21|c.1735G>A|p.Val579Ile|2070/2676|1735/2052|579/683||,T|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|19/21|c.1735G>A|p.Val579Ile|1958/2374|1735/2052|579/683||,T|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|21/23|n.*822G>A|||||16244|,T|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|17/19|n.*1590G>A|||||30858|,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000472164|retained_intron||n.-1G>A|||||641|,T|downstream_gene_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic||n.*289G>A|||||1806|,T|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|21/23|n.*822G>A||||||,T|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|17/19|n.*1590G>A|||||| 22 29908154 . G T . . ANN=T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000472164|retained_intron||n.-1C>A|||||723|,T|downstream_gene_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic||n.*289C>A|||||1724|,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|17/19|c.1682-29C>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|17/19|c.1682-29C>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|18/20|c.1682-29C>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|20/22|n.*769-29C>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|16/18|n.*1537-29C>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|18/20|c.1682-29C>A|||||| 22 29912968 . T C . . ANN=C|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000484924|retained_intron||n.*909A>G|||||2027|,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|17/19|c.1681+50A>G||||||,C|intron_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic|1/1|n.162-2963A>G||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|17/19|c.1681+50A>G||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|18/20|c.1681+50A>G||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|20/22|n.*768+50A>G||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|16/18|n.*1536+50A>G||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|18/20|c.1681+50A>G|||||| 22 29912993 . C T . . ANN=T|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000484924|retained_intron||n.*909G>A|||||2002|,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|17/19|c.1681+25G>A||||||,T|intron_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic|1/1|n.162-2988G>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|17/19|c.1681+25G>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|18/20|c.1681+25G>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|20/22|n.*768+25G>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|16/18|n.*1536+25G>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|18/20|c.1681+25G>A|||||| 22 29913025 . C T . . ANN=T|synonymous_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|17/20|c.1674G>A|p.Arg558Arg|1893/2560|1674/2052|558/683||,T|synonymous_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|17/20|c.1674G>A|p.Arg558Arg|1797/4753|1674/2052|558/683||,T|synonymous_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|18/21|c.1674G>A|p.Arg558Arg|2009/2676|1674/2052|558/683||,T|synonymous_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|18/21|c.1674G>A|p.Arg558Arg|1897/2374|1674/2052|558/683||,T|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|20/23|n.*761G>A|||||11291|,T|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|16/19|n.*1529G>A|||||25905|,T|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000484924|retained_intron||n.*909G>A|||||1970|,T|intron_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic|1/1|n.162-3020G>A||||||,T|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|20/23|n.*761G>A||||||,T|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|16/19|n.*1529G>A|||||| 22 29913033 . T C . . ANN=C|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|17/20|c.1666A>G|p.Ile556Val|1885/2560|1666/2052|556/683||,C|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|17/20|c.1666A>G|p.Ile556Val|1789/4753|1666/2052|556/683||,C|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|18/21|c.1666A>G|p.Ile556Val|2001/2676|1666/2052|556/683||,C|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|18/21|c.1666A>G|p.Ile556Val|1889/2374|1666/2052|556/683||,C|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|20/23|n.*753A>G|||||11283|,C|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|16/19|n.*1521A>G|||||25897|,C|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000484924|retained_intron||n.*909A>G|||||1962|,C|intron_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic|1/1|n.162-3028A>G||||||,C|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|20/23|n.*753A>G||||||,C|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|16/19|n.*1521A>G|||||| 22 29913272 . C T . . ANN=T|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|16/20|c.1573G>A|p.Val525Ile|1792/2560|1573/2052|525/683||,T|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|16/20|c.1573G>A|p.Val525Ile|1696/4753|1573/2052|525/683||,T|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|17/21|c.1573G>A|p.Val525Ile|1908/2676|1573/2052|525/683||,T|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|17/21|c.1573G>A|p.Val525Ile|1796/2374|1573/2052|525/683||,T|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|19/23|n.*660G>A|||||11044|,T|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|15/19|n.*1428G>A|||||25658|,T|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000484924|retained_intron||n.*909G>A|||||1723|,T|intron_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic|1/1|n.162-3267G>A||||||,T|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|19/23|n.*660G>A||||||,T|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|15/19|n.*1428G>A|||||| 22 29913278 . C T . . ANN=T|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|16/20|c.1567G>A|p.Val523Met|1786/2560|1567/2052|523/683||,T|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|16/20|c.1567G>A|p.Val523Met|1690/4753|1567/2052|523/683||,T|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|17/21|c.1567G>A|p.Val523Met|1902/2676|1567/2052|523/683||,T|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|17/21|c.1567G>A|p.Val523Met|1790/2374|1567/2052|523/683||,T|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|19/23|n.*654G>A|||||11038|,T|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|15/19|n.*1422G>A|||||25652|,T|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000484924|retained_intron||n.*909G>A|||||1717|,T|intron_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic|1/1|n.162-3273G>A||||||,T|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|19/23|n.*654G>A||||||,T|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|15/19|n.*1422G>A|||||| 22 29913377 . G A . . ANN=A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000484924|retained_intron||n.*909C>T|||||1618|,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|15/19|c.1490-22C>T||||||,A|intron_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic|1/1|n.162-3372C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|15/19|c.1490-22C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|16/20|c.1490-22C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|18/22|n.*577-22C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|14/18|n.*1345-22C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|16/20|c.1490-22C>T|||||| 22 29913379 . C T . . ANN=T|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000484924|retained_intron||n.*909G>A|||||1616|,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|15/19|c.1490-24G>A||||||,T|intron_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic|1/1|n.162-3374G>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|15/19|c.1490-24G>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|16/20|c.1490-24G>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|18/22|n.*577-24G>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|14/18|n.*1345-24G>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|16/20|c.1490-24G>A|||||| 22 29913380 . G A . . ANN=A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000484924|retained_intron||n.*909C>T|||||1615|,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|15/19|c.1490-25C>T||||||,A|intron_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic|1/1|n.162-3375C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|15/19|c.1490-25C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|16/20|c.1490-25C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|18/22|n.*577-25C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|14/18|n.*1345-25C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|16/20|c.1490-25C>T|||||| 22 29915144 . C T . . ANN=T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|14/19|c.1375-35G>A||||||,T|intron_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic|1/1|n.162-5139G>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|14/19|c.1375-35G>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|15/20|c.1375-35G>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|17/22|n.*462-35G>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|13/18|n.*1230-35G>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|15/20|c.1375-35G>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000484924|retained_intron|7/7|n.795-35G>A|||||| 22 29916963 . G A . . ANN=A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000443089|protein_coding||c.*786C>T|||||4864|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|13/19|c.1277+24C>T||||||,A|intron_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic|1/1|n.162-6958C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|13/19|c.1277+24C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|14/20|c.1277+24C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|16/22|n.*364+24C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|12/18|n.*1132+24C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|14/20|c.1277+24C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000484924|retained_intron|6/7|n.697+24C>T|||||| 22 29917009 . G C . . ANN=C|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|13/20|c.1255C>G|p.Gln419Glu|1474/2560|1255/2052|419/683||,C|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|13/20|c.1255C>G|p.Gln419Glu|1378/4753|1255/2052|419/683||,C|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|14/21|c.1255C>G|p.Gln419Glu|1590/2676|1255/2052|419/683||,C|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|14/21|c.1255C>G|p.Gln419Glu|1478/2374|1255/2052|419/683||,C|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|16/23|n.*342C>G|||||7307|,C|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|12/19|n.*1110C>G|||||21921|,C|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000443089|protein_coding||c.*786C>G|||||4818|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic|1/1|n.162-7004C>G||||||,C|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|16/23|n.*342C>G||||||,C|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|12/19|n.*1110C>G||||||,C|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000484924|retained_intron|6/8|n.675C>G|||||| 22 29917122 . C T . . ANN=T|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000443089|protein_coding||c.*786G>A|||||4705|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|12/19|c.1176-34G>A||||||,T|intron_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic|1/1|n.162-7117G>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|12/19|c.1176-34G>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|13/20|c.1176-34G>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|15/22|n.*263-34G>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|11/18|n.*1031-34G>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|13/20|c.1176-34G>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000484924|retained_intron|5/7|n.596-34G>A|||||| 22 29921795 . G A . . ANN=A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000443089|protein_coding||c.*786C>T|||||32|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000492707|retained_intron||n.*550C>T|||||2577|,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|12/19|c.1175+32C>T||||||,A|intron_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic|1/1|n.161+9424C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|12/19|c.1175+32C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|13/20|c.1175+32C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|15/22|n.*262+32C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|11/18|n.*1030+32C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|13/20|c.1175+32C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000484924|retained_intron|5/7|n.595+32C>T|||||| 22 29921813 . C T . . ANN=T|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000443089|protein_coding||c.*786G>A|||||14|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000492707|retained_intron||n.*550G>A|||||2559|,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|12/19|c.1175+14G>A||||||,T|intron_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic|1/1|n.161+9406G>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|12/19|c.1175+14G>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|13/20|c.1175+14G>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|15/22|n.*262+14G>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|11/18|n.*1030+14G>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|13/20|c.1175+14G>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000484924|retained_intron|5/7|n.595+14G>A|||||| 22 29924156 . C T . . ANN=T|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|11/20|c.977G>A|p.Arg326Lys|1196/2560|977/2052|326/683||,T|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|11/20|c.977G>A|p.Arg326Lys|1100/4753|977/2052|326/683||,T|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|12/21|c.977G>A|p.Arg326Lys|1312/2676|977/2052|326/683||,T|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|12/21|c.977G>A|p.Arg326Lys|1200/2374|977/2052|326/683||,T|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000443089|protein_coding|8/9|c.587G>A|p.Arg196Lys|588/786|587/785|196/260||WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|14/23|n.*64G>A|||||160|,T|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|10/19|n.*832G>A|||||14774|,T|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000492707|retained_intron||n.*550G>A|||||216|,T|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000488052|retained_intron||n.*526G>A|||||3386|,T|intron_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic|1/1|n.161+7063G>A||||||,T|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|14/23|n.*64G>A||||||,T|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|10/19|n.*832G>A||||||,T|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000484924|retained_intron|4/8|n.397G>A|||||| 22 29924212 . T C . . ANN=C|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000492707|retained_intron||n.*550A>G|||||160|,C|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000488052|retained_intron||n.*526A>G|||||3330|,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|10/19|c.967-46A>G||||||,C|intron_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic|1/1|n.161+7007A>G||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|10/19|c.967-46A>G||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|11/20|c.967-46A>G||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|13/22|n.*54-46A>G||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|9/18|n.*822-46A>G||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|11/20|c.967-46A>G||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000484924|retained_intron|3/7|n.387-46A>G||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000443089|protein_coding|7/8|c.577-46A>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 29924481 . AGAG A . . ANN=|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000488052|retained_intron||n.*526_*526delCTC|||||3060|,|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|9/19|c.926-29_926-27delCTC||||||,|intron_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic|1/1|n.161+6735_161+6737delCTC||||||,|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|9/19|c.926-29_926-27delCTC||||||,|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|10/20|c.926-29_926-27delCTC||||||,|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|11/22|n.959-29_959-27delCTC||||||,|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|8/18|n.*781-29_*781-27delCTC||||||,|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|10/20|c.926-29_926-27delCTC||||||,|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000484924|retained_intron|2/7|n.194-29_194-27delCTC||||||,|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000443089|protein_coding|6/8|c.536-29_536-27delCTC||||||WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000492707|retained_intron|4/4|n.467-29_467-27delCTC|||||| 22 29925129 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|8/19|n.*577G>A|||||13801|,T|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000488052|retained_intron||n.*526G>A|||||2413|,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|9/19|c.925+22G>A||||||,T|intron_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic|1/1|n.161+6090G>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|9/19|c.925+22G>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|10/20|c.925+22G>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|11/22|n.958+22G>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|10/20|c.925+22G>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000484924|retained_intron|2/7|n.193+22G>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000443089|protein_coding|6/8|c.535+22G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000492707|retained_intron|4/4|n.466+22G>A||||||,T|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|8/19|n.*577G>A|||||| 22 29925140 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|8/19|n.*566G>A|||||13790|,T|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000488052|retained_intron||n.*526G>A|||||2402|,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|9/19|c.925+11G>A||||||,T|intron_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic|1/1|n.161+6079G>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|9/19|c.925+11G>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|10/20|c.925+11G>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|11/22|n.958+11G>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|10/20|c.925+11G>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000484924|retained_intron|2/7|n.193+11G>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000443089|protein_coding|6/8|c.535+11G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000492707|retained_intron|4/4|n.466+11G>A||||||,T|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|8/19|n.*566G>A|||||| 22 29925221 . C T . . ANN=T|synonymous_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|9/20|c.855G>A|p.Thr285Thr|1074/2560|855/2052|285/683||,T|synonymous_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|9/20|c.855G>A|p.Thr285Thr|978/4753|855/2052|285/683||,T|synonymous_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|10/21|c.855G>A|p.Thr285Thr|1190/2676|855/2052|285/683||,T|synonymous_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|10/21|c.855G>A|p.Thr285Thr|1078/2374|855/2052|285/683||,T|synonymous_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000443089|protein_coding|6/9|c.465G>A|p.Thr155Thr|466/786|465/785|155/260||WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|8/19|n.*485G>A|||||13709|,T|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000488052|retained_intron||n.*526G>A|||||2321|,T|intron_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic|1/1|n.161+5998G>A||||||,T|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|11/23|n.888G>A||||||,T|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|8/19|n.*485G>A||||||,T|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000484924|retained_intron|2/8|n.123G>A||||||,T|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000492707|retained_intron|4/5|n.396G>A|||||| 22 29925239 . AG A . . ANN=|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000488052|retained_intron||n.*526delC|||||2302|,|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|8/19|c.848-12delC||||||,|intron_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic|1/1|n.161+5979delC||||||,|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|8/19|c.848-12delC||||||,|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|9/20|c.848-12delC||||||,|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|10/22|n.881-12delC||||||,|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|7/18|n.*478-12delC||||||,|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|9/20|c.848-12delC||||||,|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000484924|retained_intron|1/7|n.116-12delC||||||,|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000443089|protein_coding|5/8|c.458-12delC||||||WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000492707|retained_intron|3/4|n.389-12delC|||||| 22 29927821 . A G . . ANN=G|splice_region_variant&synonymous_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|8/20|c.846T>C|p.Cys282Cys|1065/2560|846/2052|282/683||,G|splice_region_variant&synonymous_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|8/20|c.846T>C|p.Cys282Cys|969/4753|846/2052|282/683||,G|splice_region_variant&synonymous_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|9/21|c.846T>C|p.Cys282Cys|1181/2676|846/2052|282/683||,G|splice_region_variant&non_coding_exon_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|9/23|n.846T>C||||||,G|splice_region_variant&non_coding_exon_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|7/19|n.*476T>C||||||,G|splice_region_variant&synonymous_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|9/21|c.846T>C|p.Cys282Cys|1069/2374|846/2052|282/683||,G|splice_region_variant&synonymous_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000443089|protein_coding|4/9|c.423T>C|p.Cys141Cys|424/786|423/785|141/260||WARNING_TRANSCRIPT_INCOMPLETE,G|splice_region_variant&non_coding_exon_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000492707|retained_intron|3/5|n.387T>C||||||,G|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|7/19|n.*476T>C|||||11109|,G|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000475187|retained_intron||n.*1935T>C|||||2706|,G|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000440771|protein_coding||c.*1006T>C|||||4835|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic|1/1|n.161+3398T>C||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000484924|retained_intron|1/7|n.116-2593T>C||||||,G|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000488052|retained_intron|2/2|n.247T>C|||||| 22 29927836 . C T . . ANN=T|synonymous_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|8/20|c.831G>A|p.Ala277Ala|1050/2560|831/2052|277/683||,T|synonymous_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|8/20|c.831G>A|p.Ala277Ala|954/4753|831/2052|277/683||,T|synonymous_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|9/21|c.831G>A|p.Ala277Ala|1166/2676|831/2052|277/683||,T|synonymous_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|9/21|c.831G>A|p.Ala277Ala|1054/2374|831/2052|277/683||,T|synonymous_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000443089|protein_coding|4/9|c.408G>A|p.Ala136Ala|409/786|408/785|136/260||WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|7/19|n.*461G>A|||||11094|,T|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000475187|retained_intron||n.*1935G>A|||||2691|,T|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000440771|protein_coding||c.*1006G>A|||||4820|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic|1/1|n.161+3383G>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000484924|retained_intron|1/7|n.116-2608G>A||||||,T|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|9/23|n.831G>A||||||,T|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|7/19|n.*461G>A||||||,T|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000492707|retained_intron|3/5|n.372G>A||||||,T|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000488052|retained_intron|2/2|n.232G>A|||||| 22 29927873 . G A . . ANN=A|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|8/20|c.794C>T|p.Pro265Leu|1013/2560|794/2052|265/683||,A|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|8/20|c.794C>T|p.Pro265Leu|917/4753|794/2052|265/683||,A|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|9/21|c.794C>T|p.Pro265Leu|1129/2676|794/2052|265/683||,A|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|9/21|c.794C>T|p.Pro265Leu|1017/2374|794/2052|265/683||,A|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000443089|protein_coding|4/9|c.371C>T|p.Pro124Leu|372/786|371/785|124/260||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|7/19|n.*424C>T|||||11057|,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000475187|retained_intron||n.*1935C>T|||||2654|,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000440771|protein_coding||c.*1006C>T|||||4783|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic|1/1|n.161+3346C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000484924|retained_intron|1/7|n.116-2645C>T||||||,A|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|9/23|n.794C>T||||||,A|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|7/19|n.*424C>T||||||,A|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000492707|retained_intron|3/5|n.335C>T||||||,A|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000488052|retained_intron|2/2|n.195C>T|||||| 22 29927912 . T A . . ANN=A|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|8/20|c.755A>T|p.Asp252Val|974/2560|755/2052|252/683||,A|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|8/20|c.755A>T|p.Asp252Val|878/4753|755/2052|252/683||,A|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|9/21|c.755A>T|p.Asp252Val|1090/2676|755/2052|252/683||,A|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|9/21|c.755A>T|p.Asp252Val|978/2374|755/2052|252/683||,A|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000443089|protein_coding|4/9|c.332A>T|p.Asp111Val|333/786|332/785|111/260||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|7/19|n.*385A>T|||||11018|,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000475187|retained_intron||n.*1935A>T|||||2615|,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000440771|protein_coding||c.*1006A>T|||||4744|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic|1/1|n.161+3307A>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000484924|retained_intron|1/7|n.116-2684A>T||||||,A|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|9/23|n.755A>T||||||,A|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|7/19|n.*385A>T||||||,A|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000492707|retained_intron|3/5|n.296A>T||||||,A|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000488052|retained_intron|2/2|n.156A>T|||||| 22 29927922 . T C . . ANN=C|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|8/20|c.745A>G|p.Met249Val|964/2560|745/2052|249/683||,C|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|8/20|c.745A>G|p.Met249Val|868/4753|745/2052|249/683||,C|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|9/21|c.745A>G|p.Met249Val|1080/2676|745/2052|249/683||,C|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|9/21|c.745A>G|p.Met249Val|968/2374|745/2052|249/683||,C|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000443089|protein_coding|4/9|c.322A>G|p.Met108Val|323/786|322/785|108/260||WARNING_TRANSCRIPT_INCOMPLETE,C|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|7/19|n.*375A>G|||||11008|,C|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000475187|retained_intron||n.*1935A>G|||||2605|,C|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000440771|protein_coding||c.*1006A>G|||||4734|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic|1/1|n.161+3297A>G||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000484924|retained_intron|1/7|n.116-2694A>G||||||,C|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|9/23|n.745A>G||||||,C|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|7/19|n.*375A>G||||||,C|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000492707|retained_intron|3/5|n.286A>G||||||,C|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000488052|retained_intron|2/2|n.146A>G|||||| 22 29927961 . A G . . ANN=G|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000475187|retained_intron||n.*1935T>C|||||2566|,G|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000440771|protein_coding||c.*1006T>C|||||4695|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|7/19|c.715-9T>C||||||,G|intron_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic|1/1|n.161+3258T>C||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|7/19|c.715-9T>C||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|8/20|c.715-9T>C||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|8/22|n.715-9T>C||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|6/18|n.*345-9T>C||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|8/20|c.715-9T>C||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000484924|retained_intron|1/7|n.116-2733T>C||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000443089|protein_coding|3/8|c.292-9T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000492707|retained_intron|2/4|n.256-9T>C||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000488052|retained_intron|1/1|n.116-9T>C|||||| 22 29927967 . C G . . ANN=G|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000475187|retained_intron||n.*1935G>C|||||2560|,G|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000440771|protein_coding||c.*1006G>C|||||4689|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|7/19|c.715-15G>C||||||,G|intron_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic|1/1|n.161+3252G>C||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|7/19|c.715-15G>C||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|8/20|c.715-15G>C||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|8/22|n.715-15G>C||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|6/18|n.*345-15G>C||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|8/20|c.715-15G>C||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000484924|retained_intron|1/7|n.116-2739G>C||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000443089|protein_coding|3/8|c.292-15G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000492707|retained_intron|2/4|n.256-15G>C||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000488052|retained_intron|1/1|n.116-15G>C|||||| 22 29927979 . C A . . ANN=A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000475187|retained_intron||n.*1935G>T|||||2548|,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000440771|protein_coding||c.*1006G>T|||||4677|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|7/19|c.715-27G>T||||||,A|intron_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic|1/1|n.161+3240G>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|7/19|c.715-27G>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|8/20|c.715-27G>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|8/22|n.715-27G>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|6/18|n.*345-27G>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|8/20|c.715-27G>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000484924|retained_intron|1/7|n.116-2751G>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000443089|protein_coding|3/8|c.292-27G>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000492707|retained_intron|2/4|n.256-27G>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000488052|retained_intron|1/1|n.116-27G>T|||||| 22 29932568 . G C . . ANN=C|upstream_gene_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic||n.-1C>G|||||1189|,C|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000440771|protein_coding||c.*1006C>G|||||88|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000455450|protein_coding||c.*579C>G|||||2759|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000428374|protein_coding||c.*729C>G|||||2865|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|7/19|c.714+45C>G||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|7/19|c.714+45C>G||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|8/20|c.714+45C>G||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|8/22|n.714+45C>G||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|6/18|n.*344+45C>G||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|8/20|c.714+45C>G||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000484924|retained_intron|1/7|n.115+45C>G||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000443089|protein_coding|3/8|c.291+45C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000492707|retained_intron|2/4|n.255+45C>G||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000488052|retained_intron|1/1|n.115+45C>G||||||,C|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000475187|retained_intron|6/7|n.756C>G|||||| 22 29935299 . C T . . ANN=T|upstream_gene_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic||n.-1G>A|||||3920|,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000484924|retained_intron||n.-1G>A|||||2572|,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000488052|retained_intron||n.-1G>A|||||2572|,T|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000455450|protein_coding||c.*579G>A|||||28|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000428374|protein_coding||c.*729G>A|||||134|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000414902|nonsense_mediated_decay||n.*330G>A|||||4119|,T|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000418021|protein_coding||c.*738G>A|||||4193|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|6/19|c.599+20G>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|6/19|c.599+20G>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|7/20|c.599+20G>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|7/22|n.599+20G>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|5/18|n.*229+20G>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|7/20|c.599+20G>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000443089|protein_coding|2/8|c.176+20G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000492707|retained_intron|1/4|n.140+20G>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000475187|retained_intron|5/6|n.596+20G>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000440771|protein_coding|7/7|c.599+20G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 29935380 . T C . . ANN=C|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|6/20|c.538A>G|p.Met180Val|757/2560|538/2052|180/683||,C|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|6/20|c.538A>G|p.Met180Val|661/4753|538/2052|180/683||,C|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|7/21|c.538A>G|p.Met180Val|873/2676|538/2052|180/683||,C|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|7/21|c.538A>G|p.Met180Val|761/2374|538/2052|180/683||,C|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000443089|protein_coding|2/9|c.115A>G|p.Met39Val|116/786|115/785|39/260||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000440771|protein_coding|7/8|c.538A>G|p.Met180Val|873/1006|538/671|180/222||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000455450|protein_coding|5/5|c.526A>G|p.Met176Val|526/579|526/579|176/192||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|5/21|c.538A>G||||||,C|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|7/21|c.538A>G||||||,C|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|4/21|c.538A>G||||||,C|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|3/21|c.538A>G||||||,C|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|6/21|c.538A>G||||||,C|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|5/19|n.*168A>G|||||3550|,C|upstream_gene_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic||n.-1A>G|||||4001|,C|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000484924|retained_intron||n.-1A>G|||||2653|,C|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000488052|retained_intron||n.-1A>G|||||2653|,C|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000428374|protein_coding||c.*729A>G|||||53|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000414902|nonsense_mediated_decay||n.*330A>G|||||4038|,C|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000418021|protein_coding||c.*738A>G|||||4112|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|7/23|n.538A>G||||||,C|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|5/19|n.*168A>G||||||,C|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000492707|retained_intron|1/5|n.79A>G||||||,C|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000475187|retained_intron|5/7|n.535A>G|||||| 22 29935472 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|5/19|c.453-7T>C||||||,G|splice_region_variant&intron_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|5/19|c.453-7T>C||||||,G|splice_region_variant&intron_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|6/20|c.453-7T>C||||||,G|splice_region_variant&intron_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|6/22|n.453-7T>C||||||,G|splice_region_variant&intron_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|4/18|n.*83-7T>C||||||,G|splice_region_variant&intron_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|6/20|c.453-7T>C||||||,G|splice_region_variant&intron_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000443089|protein_coding|1/8|c.30-7T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|splice_region_variant&intron_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000475187|retained_intron|4/6|n.450-7T>C||||||,G|splice_region_variant&intron_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000440771|protein_coding|6/7|c.453-7T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|splice_region_variant&intron_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000455450|protein_coding|4/4|c.441-7T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|splice_region_variant&intron_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000428374|protein_coding|5/5|c.453-7T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|5/21|c.453-7T>C||||||,G|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|7/21|c.453-7T>C||||||,G|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|4/21|c.453-7T>C||||||,G|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|3/21|c.453-7T>C||||||,G|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|6/21|c.453-7T>C||||||,G|upstream_gene_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic||n.-1T>C|||||4093|,G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000484924|retained_intron||n.-1T>C|||||2745|,G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000492707|retained_intron||n.-1T>C|||||14|,G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000488052|retained_intron||n.-1T>C|||||2745|,G|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000414902|nonsense_mediated_decay||n.*330T>C|||||3946|,G|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000418021|protein_coding||c.*738T>C|||||4020|WARNING_TRANSCRIPT_INCOMPLETE 22 29935491 . C G . . ANN=G|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|5/21|c.453-26G>C||||||,G|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|7/21|c.453-26G>C||||||,G|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|4/21|c.453-26G>C||||||,G|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|3/21|c.453-26G>C||||||,G|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|6/21|c.453-26G>C||||||,G|upstream_gene_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic||n.-1G>C|||||4112|,G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000484924|retained_intron||n.-1G>C|||||2764|,G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000492707|retained_intron||n.-1G>C|||||33|,G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000488052|retained_intron||n.-1G>C|||||2764|,G|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000414902|nonsense_mediated_decay||n.*330G>C|||||3927|,G|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000418021|protein_coding||c.*738G>C|||||4001|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|5/19|c.453-26G>C||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|5/19|c.453-26G>C||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|6/20|c.453-26G>C||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|6/22|n.453-26G>C||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|4/18|n.*83-26G>C||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|6/20|c.453-26G>C||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000443089|protein_coding|1/8|c.30-26G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000475187|retained_intron|4/6|n.450-26G>C||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000440771|protein_coding|6/7|c.453-26G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000455450|protein_coding|4/4|c.441-26G>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000428374|protein_coding|5/5|c.453-26G>C||||||WARNING_TRANSCRIPT_INCOMPLETE 22 29935507 . A T . . ANN=T|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|5/21|c.453-42T>A||||||,T|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|7/21|c.453-42T>A||||||,T|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|4/21|c.453-42T>A||||||,T|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|3/21|c.453-42T>A||||||,T|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|6/21|c.453-42T>A||||||,T|upstream_gene_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic||n.-1T>A|||||4128|,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000484924|retained_intron||n.-1T>A|||||2780|,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000492707|retained_intron||n.-1T>A|||||49|,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000488052|retained_intron||n.-1T>A|||||2780|,T|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000414902|nonsense_mediated_decay||n.*330T>A|||||3911|,T|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000418021|protein_coding||c.*738T>A|||||3985|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|5/19|c.453-42T>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|5/19|c.453-42T>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|6/20|c.453-42T>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|6/22|n.453-42T>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|4/18|n.*83-42T>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|6/20|c.453-42T>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000443089|protein_coding|1/8|c.30-42T>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000475187|retained_intron|4/6|n.450-42T>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000440771|protein_coding|6/7|c.453-42T>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000455450|protein_coding|4/4|c.441-42T>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000428374|protein_coding|5/5|c.453-42T>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 29938798 . G A . . ANN=A|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|5/21|c.452+50C>T||||||,A|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|7/21|c.452+50C>T||||||,A|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|4/21|c.452+50C>T||||||,A|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|3/21|c.452+50C>T||||||,A|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|6/21|c.452+50C>T||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000492707|retained_intron||n.-1C>T|||||3340|,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000414902|nonsense_mediated_decay||n.*330C>T|||||620|,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000418021|protein_coding||c.*738C>T|||||694|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|5/19|c.452+50C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|5/19|c.452+50C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|6/20|c.452+50C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|6/22|n.452+50C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|4/18|n.*82+50C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|6/20|c.452+50C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000443089|protein_coding|1/8|c.29+50C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000475187|retained_intron|4/6|n.449+50C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000440771|protein_coding|6/7|c.452+50C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000455450|protein_coding|4/4|c.440+50C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000428374|protein_coding|5/5|c.452+50C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 29938807 . G T . . ANN=T|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|5/21|c.452+41C>A||||||,T|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|7/21|c.452+41C>A||||||,T|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|4/21|c.452+41C>A||||||,T|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|3/21|c.452+41C>A||||||,T|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|6/21|c.452+41C>A||||||,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000492707|retained_intron||n.-1C>A|||||3349|,T|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000414902|nonsense_mediated_decay||n.*330C>A|||||611|,T|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000418021|protein_coding||c.*738C>A|||||685|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|5/19|c.452+41C>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|5/19|c.452+41C>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|6/20|c.452+41C>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|6/22|n.452+41C>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|4/18|n.*82+41C>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|6/20|c.452+41C>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000443089|protein_coding|1/8|c.29+41C>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000475187|retained_intron|4/6|n.449+41C>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000440771|protein_coding|6/7|c.452+41C>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000455450|protein_coding|4/4|c.440+41C>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000428374|protein_coding|5/5|c.452+41C>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 29938976 . G A . . ANN=A|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|5/21|c.355-31C>T||||||,A|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|7/21|c.355-31C>T||||||,A|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|4/21|c.355-31C>T||||||,A|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|3/21|c.355-31C>T||||||,A|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|6/21|c.355-31C>T||||||,A|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_CSF1R|ENST00000397873|protein_coding|5/21|c.355-31C>T||||||,A|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_CSF1R|ENST00000397873|protein_coding|4/21|c.355-31C>T||||||,A|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_CSF1R|ENST00000397873|protein_coding|3/21|c.355-31C>T||||||,A|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_CSF1R|ENST00000397873|protein_coding|6/21|c.355-31C>T||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000443089|protein_coding||c.-2C>T|||||99|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000492707|retained_intron||n.-1C>T|||||3518|,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000414902|nonsense_mediated_decay||n.*330C>T|||||442|,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000418021|protein_coding||c.*738C>T|||||516|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|4/19|c.355-31C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|4/19|c.355-31C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|5/20|c.355-31C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|5/22|n.355-31C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|3/18|n.369-31C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|5/20|c.355-31C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000475187|retained_intron|3/6|n.352-31C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000440771|protein_coding|5/7|c.355-31C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000455450|protein_coding|3/4|c.343-31C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000428374|protein_coding|4/5|c.355-31C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 29939379 . G A . . ANN=A|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|5/21|c.354+39C>T||||||,A|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|7/21|c.354+39C>T||||||,A|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|4/21|c.354+39C>T||||||,A|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|3/21|c.354+39C>T||||||,A|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|6/21|c.354+39C>T||||||,A|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_CSF1R|ENST00000397873|protein_coding|5/21|c.354+39C>T||||||,A|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_CSF1R|ENST00000397873|protein_coding|4/21|c.354+39C>T||||||,A|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_CSF1R|ENST00000397873|protein_coding|3/21|c.354+39C>T||||||,A|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_CSF1R|ENST00000397873|protein_coding|6/21|c.354+39C>T||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000443089|protein_coding||c.-2C>T|||||502|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000492707|retained_intron||n.-1C>T|||||3921|,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000414902|nonsense_mediated_decay||n.*330C>T|||||39|,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000418021|protein_coding||c.*738C>T|||||113|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|4/19|c.354+39C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|4/19|c.354+39C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|5/20|c.354+39C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|5/22|n.354+39C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|3/18|n.368+25C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|5/20|c.354+39C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000475187|retained_intron|3/6|n.351+39C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000440771|protein_coding|5/7|c.354+39C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000455450|protein_coding|3/4|c.342+39C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000428374|protein_coding|4/5|c.354+39C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 29939387 . G A . . ANN=A|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|5/21|c.354+31C>T||||||,A|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|7/21|c.354+31C>T||||||,A|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|4/21|c.354+31C>T||||||,A|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|3/21|c.354+31C>T||||||,A|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|6/21|c.354+31C>T||||||,A|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_CSF1R|ENST00000397873|protein_coding|5/21|c.354+31C>T||||||,A|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_CSF1R|ENST00000397873|protein_coding|4/21|c.354+31C>T||||||,A|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_CSF1R|ENST00000397873|protein_coding|3/21|c.354+31C>T||||||,A|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_CSF1R|ENST00000397873|protein_coding|6/21|c.354+31C>T||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000443089|protein_coding||c.-2C>T|||||510|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000492707|retained_intron||n.-1C>T|||||3929|,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000414902|nonsense_mediated_decay||n.*330C>T|||||31|,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000418021|protein_coding||c.*738C>T|||||105|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|4/19|c.354+31C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|4/19|c.354+31C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|5/20|c.354+31C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|5/22|n.354+31C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|3/18|n.368+17C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|5/20|c.354+31C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000475187|retained_intron|3/6|n.351+31C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000440771|protein_coding|5/7|c.354+31C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000455450|protein_coding|3/4|c.342+31C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000428374|protein_coding|4/5|c.354+31C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 29939391 . G T . . ANN=T|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|5/21|c.354+27C>A||||||,T|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|7/21|c.354+27C>A||||||,T|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|4/21|c.354+27C>A||||||,T|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|3/21|c.354+27C>A||||||,T|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|6/21|c.354+27C>A||||||,T|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_CSF1R|ENST00000397873|protein_coding|5/21|c.354+27C>A||||||,T|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_CSF1R|ENST00000397873|protein_coding|4/21|c.354+27C>A||||||,T|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_CSF1R|ENST00000397873|protein_coding|3/21|c.354+27C>A||||||,T|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_CSF1R|ENST00000397873|protein_coding|6/21|c.354+27C>A||||||,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000443089|protein_coding||c.-2C>A|||||514|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000492707|retained_intron||n.-1C>A|||||3933|,T|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000414902|nonsense_mediated_decay||n.*330C>A|||||27|,T|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000418021|protein_coding||c.*738C>A|||||101|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|4/19|c.354+27C>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|4/19|c.354+27C>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|5/20|c.354+27C>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|5/22|n.354+27C>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|3/18|n.368+13C>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|5/20|c.354+27C>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000475187|retained_intron|3/6|n.351+27C>A||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000440771|protein_coding|5/7|c.354+27C>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000455450|protein_coding|3/4|c.342+27C>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000428374|protein_coding|4/5|c.354+27C>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 29939414 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|4/19|c.354+4G>A||||||,T|splice_region_variant&intron_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|4/19|c.354+4G>A||||||,T|splice_region_variant&intron_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|5/20|c.354+4G>A||||||,T|splice_region_variant&intron_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|5/22|n.354+4G>A||||||,T|splice_region_variant&intron_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|5/20|c.354+4G>A||||||,T|splice_region_variant&intron_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000475187|retained_intron|3/6|n.351+4G>A||||||,T|splice_region_variant&intron_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000440771|protein_coding|5/7|c.354+4G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|splice_region_variant&intron_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000455450|protein_coding|3/4|c.342+4G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|splice_region_variant&intron_variant|LOW|THOC5|ENSG00000100296|transcript|ENST00000428374|protein_coding|4/5|c.354+4G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|5/21|c.354+4G>A||||||,T|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|7/21|c.354+4G>A||||||,T|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|4/21|c.354+4G>A||||||,T|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|3/21|c.354+4G>A||||||,T|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|6/21|c.354+4G>A||||||,T|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_CSF1R|ENST00000397873|protein_coding|5/21|c.354+4G>A||||||,T|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_CSF1R|ENST00000397873|protein_coding|4/21|c.354+4G>A||||||,T|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_CSF1R|ENST00000397873|protein_coding|3/21|c.354+4G>A||||||,T|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_CSF1R|ENST00000397873|protein_coding|6/21|c.354+4G>A||||||,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000443089|protein_coding||c.-2G>A|||||537|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000492707|retained_intron||n.-1G>A|||||3956|,T|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000414902|nonsense_mediated_decay||n.*330G>A|||||4|,T|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000418021|protein_coding||c.*738G>A|||||78|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|3/19|n.358G>A|||||| 22 29940404 . T A . . ANN=A|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|5/21|c.240+45A>T||||||,A|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|7/21|c.240+45A>T||||||,A|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|4/21|c.240+45A>T||||||,A|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|3/21|c.240+45A>T||||||,A|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|6/21|c.240+45A>T||||||,A|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_CSF1R|ENST00000397873|protein_coding|5/21|c.240+45A>T||||||,A|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_CSF1R|ENST00000397873|protein_coding|4/21|c.240+45A>T||||||,A|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_CSF1R|ENST00000397873|protein_coding|3/21|c.240+45A>T||||||,A|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_CSF1R|ENST00000397873|protein_coding|6/21|c.240+45A>T||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000443089|protein_coding||c.-2A>T|||||1527|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000492707|retained_intron||n.-1A>T|||||4946|,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|3/19|c.240+45A>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|3/19|c.240+45A>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|4/20|c.240+45A>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|4/22|n.240+45A>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|2/18|n.240+45A>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|4/20|c.240+45A>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000475187|retained_intron|2/6|n.237+45A>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000440771|protein_coding|4/7|c.240+45A>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000455450|protein_coding|2/4|c.228+45A>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000428374|protein_coding|3/5|c.240+45A>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000414902|nonsense_mediated_decay|5/5|n.*37+45A>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000418021|protein_coding|5/5|c.240+45A>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 29940556 . G C . . ANN=C|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|3/20|c.133C>G|p.Leu45Val|352/2560|133/2052|45/683||,C|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|3/20|c.133C>G|p.Leu45Val|256/4753|133/2052|45/683||,C|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|4/21|c.133C>G|p.Leu45Val|468/2676|133/2052|45/683||,C|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|4/21|c.133C>G|p.Leu45Val|356/2374|133/2052|45/683||,C|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000440771|protein_coding|4/8|c.133C>G|p.Leu45Val|468/1006|133/671|45/222||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000455450|protein_coding|2/5|c.121C>G|p.Leu41Val|121/579|121/579|41/192||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000428374|protein_coding|3/6|c.133C>G|p.Leu45Val|377/729|133/485|45/160||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000418021|protein_coding|5/6|c.133C>G|p.Leu45Val|591/738|133/280|45/92||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|5/21|c.133C>G||||||,C|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|7/21|c.133C>G||||||,C|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|4/21|c.133C>G||||||,C|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|3/21|c.133C>G||||||,C|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|6/21|c.133C>G||||||,C|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_CSF1R|ENST00000397873|protein_coding|5/21|c.133C>G||||||,C|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_CSF1R|ENST00000397873|protein_coding|4/21|c.133C>G||||||,C|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_CSF1R|ENST00000397873|protein_coding|3/21|c.133C>G||||||,C|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_CSF1R|ENST00000397873|protein_coding|6/21|c.133C>G||||||,C|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000443089|protein_coding||c.-2C>G|||||1679|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000414902|nonsense_mediated_decay|4/5|n.120+13C>G||||||,C|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|4/23|n.133C>G||||||,C|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|2/19|n.133C>G||||||,C|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000475187|retained_intron|2/7|n.130C>G|||||| 22 29945158 . G A . . ANN=A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay||n.-11C>T|||||12|,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000475187|retained_intron||n.-1C>T|||||25|,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000455450|protein_coding||c.-1C>T|||||4025|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|1/19|c.-11-11C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|1/19|c.-11-11C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|2/20|c.-11-11C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|2/22|n.-11-11C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|2/20|c.-11-11C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000440771|protein_coding|2/7|c.-11-11C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000428374|protein_coding|1/5|c.-11-11C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000414902|nonsense_mediated_decay|2/5|n.-11-11C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000418021|protein_coding|3/5|c.-11-11C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 29945186 . C A . . ANN=A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay||n.-11G>T|||||40|,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000475187|retained_intron||n.-1G>T|||||53|,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000455450|protein_coding||c.-1G>T|||||4053|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|1/19|c.-11-39G>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|1/19|c.-11-39G>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|2/20|c.-11-39G>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|2/22|n.-11-39G>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|2/20|c.-11-39G>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000440771|protein_coding|2/7|c.-11-39G>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000428374|protein_coding|1/5|c.-11-39G>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000414902|nonsense_mediated_decay|2/5|n.-11-39G>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000418021|protein_coding|3/5|c.-11-39G>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 29951963 . A G . . ANN=G|synonymous_variant|LOW|NIPSNAP1|ENSG00000184117|transcript|ENST00000216121|protein_coding|10/10|c.816T>C|p.Ser272Ser|1071/2237|816/855|272/284||,G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding||c.-220T>C|||||2319|,G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding||c.-124T>C|||||2192|,G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding||c.-336T>C|||||2319|,G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay||n.-712T>C|||||1720|,G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding||c.-224T>C|||||2208|,G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000440771|protein_coding||c.-336T>C|||||2319|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000428374|protein_coding||c.-245T>C|||||2294|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000414902|nonsense_mediated_decay||n.-199T>C|||||2233|,G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000418021|protein_coding||c.-459T>C|||||758|WARNING_TRANSCRIPT_INCOMPLETE 22 29952016 . CAG C . . ANN=|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding||c.-220_-220delCT|||||2373|,|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding||c.-124_-124delCT|||||2246|,|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding||c.-336_-336delCT|||||2373|,|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay||n.-712_-712delCT|||||1774|,|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding||c.-224_-224delCT|||||2262|,|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000440771|protein_coding||c.-336_-336delCT|||||2373|WARNING_TRANSCRIPT_INCOMPLETE,|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000428374|protein_coding||c.-245_-245delCT|||||2348|WARNING_TRANSCRIPT_INCOMPLETE,|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000414902|nonsense_mediated_decay||n.-199_-199delCT|||||2287|,|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000418021|protein_coding||c.-459_-459delCT|||||812|WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000216121|protein_coding|9/9|c.791-30_791-29delCT|||||| 22 29954815 . T C . . ANN=C|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay||n.-712A>G|||||4572|,C|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000418021|protein_coding||c.-459A>G|||||3610|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000415100|protein_coding||c.*661A>G|||||2344|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000437094|protein_coding||c.*654A>G|||||2344|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000455496|nonsense_mediated_decay||n.*398A>G|||||2804|,C|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000216121|protein_coding|9/9|c.790+44A>G|||||| 22 29954848 . G C . . ANN=C|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay||n.-712C>G|||||4605|,C|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000418021|protein_coding||c.-459C>G|||||3643|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000415100|protein_coding||c.*661C>G|||||2311|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000437094|protein_coding||c.*654C>G|||||2311|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000455496|nonsense_mediated_decay||n.*398C>G|||||2771|,C|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000216121|protein_coding|9/9|c.790+11C>G|||||| 22 29954905 . G A . . ANN=A|synonymous_variant|LOW|NIPSNAP1|ENSG00000184117|transcript|ENST00000216121|protein_coding|9/10|c.744C>T|p.Asn248Asn|999/2237|744/855|248/284||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay||n.-712C>T|||||4662|,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000418021|protein_coding||c.-459C>T|||||3700|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000415100|protein_coding||c.*661C>T|||||2254|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000437094|protein_coding||c.*654C>T|||||2254|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000455496|nonsense_mediated_decay||n.*398C>T|||||2714| 22 29954954 . G T . . ANN=T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay||n.-712C>A|||||4711|,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000418021|protein_coding||c.-459C>A|||||3749|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000415100|protein_coding||c.*661C>A|||||2205|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000437094|protein_coding||c.*654C>A|||||2205|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000455496|nonsense_mediated_decay||n.*398C>A|||||2665|,T|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000216121|protein_coding|8/9|c.707-12C>A|||||| 22 29954961 . C T . . ANN=T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay||n.-712G>A|||||4718|,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000418021|protein_coding||c.-459G>A|||||3756|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000415100|protein_coding||c.*661G>A|||||2198|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000437094|protein_coding||c.*654G>A|||||2198|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000455496|nonsense_mediated_decay||n.*398G>A|||||2658|,T|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000216121|protein_coding|8/9|c.707-19G>A|||||| 22 29956742 . G A . . ANN=A|synonymous_variant|LOW|NIPSNAP1|ENSG00000184117|transcript|ENST00000216121|protein_coding|8/10|c.687C>T|p.Tyr229Tyr|942/2237|687/855|229/284||,A|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000415100|protein_coding||c.*661C>T|||||417|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000437094|protein_coding||c.*654C>T|||||417|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000455496|nonsense_mediated_decay||n.*398C>T|||||877| 22 29956860 . G A . . ANN=A|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000415100|protein_coding||c.*661C>T|||||299|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000437094|protein_coding||c.*654C>T|||||299|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000455496|nonsense_mediated_decay||n.*398C>T|||||759|,A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000216121|protein_coding|7/9|c.612-43C>T|||||| 22 29957117 . A C . . ANN=C|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000415100|protein_coding||c.*661T>G|||||42|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000437094|protein_coding||c.*654T>G|||||42|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000455496|nonsense_mediated_decay||n.*398T>G|||||502|,C|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000216121|protein_coding|7/9|c.611+43T>G|||||| 22 29957137 . CCA C . . ANN=|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000415100|protein_coding||c.*661_*661delTG|||||21|WARNING_TRANSCRIPT_NO_START_CODON,|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000437094|protein_coding||c.*654_*654delTG|||||21|WARNING_TRANSCRIPT_NO_STOP_CODON,|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000455496|nonsense_mediated_decay||n.*398_*398delTG|||||481|,|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000216121|protein_coding|7/9|c.611+21_611+22delTG|||||| 22 29957194 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|NIPSNAP1|ENSG00000184117|transcript|ENST00000216121|protein_coding|6/9|c.580-3C>T||||||,A|splice_region_variant&intron_variant|LOW|NIPSNAP1|ENSG00000184117|transcript|ENST00000415100|protein_coding|7/7|c.628-3C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|splice_region_variant&intron_variant|LOW|NIPSNAP1|ENSG00000184117|transcript|ENST00000437094|protein_coding|6/6|c.175-3C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000455496|nonsense_mediated_decay||n.*398C>T|||||425| 22 29957474 . G A . . ANN=A|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000455496|nonsense_mediated_decay||n.*398C>T|||||145|,A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000216121|protein_coding|6/9|c.579+21C>T||||||,A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000415100|protein_coding|7/7|c.627+21C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000437094|protein_coding|6/6|c.174+21C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 29957570 . G A . . ANN=A|synonymous_variant|LOW|NIPSNAP1|ENSG00000184117|transcript|ENST00000216121|protein_coding|6/10|c.504C>T|p.Leu168Leu|759/2237|504/855|168/284||,A|synonymous_variant|LOW|NIPSNAP1|ENSG00000184117|transcript|ENST00000415100|protein_coding|7/8|c.552C>T|p.Leu184Leu|553/661|552/660|184/219||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|NIPSNAP1|ENSG00000184117|transcript|ENST00000437094|protein_coding|6/7|c.99C>T|p.Leu33Leu|546/654|99/207|33/68||WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000455496|nonsense_mediated_decay||n.*398C>T|||||49| 22 29957676 . G A . . ANN=A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000216121|protein_coding|5/9|c.439-41C>T||||||,A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000415100|protein_coding|6/7|c.487-41C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000437094|protein_coding|5/6|c.34-41C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000455496|nonsense_mediated_decay|6/6|n.*186-41C>T|||||| 22 29957796 . C T . . ANN=T|synonymous_variant|LOW|NIPSNAP1|ENSG00000184117|transcript|ENST00000216121|protein_coding|5/10|c.423G>A|p.Lys141Lys|678/2237|423/855|141/284||,T|synonymous_variant|LOW|NIPSNAP1|ENSG00000184117|transcript|ENST00000415100|protein_coding|6/8|c.471G>A|p.Lys157Lys|472/661|471/660|157/219||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|NIPSNAP1|ENSG00000184117|transcript|ENST00000437094|protein_coding|5/7|c.18G>A|p.Lys6Lys|465/654|18/207|6/68||WARNING_TRANSCRIPT_NO_STOP_CODON,T|3_prime_UTR_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000455496|nonsense_mediated_decay|6/7|n.*170G>A|||||2545|,T|non_coding_exon_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000455496|nonsense_mediated_decay|6/7|n.*170G>A|||||| 22 29957826 . G A . . ANN=A|synonymous_variant|LOW|NIPSNAP1|ENSG00000184117|transcript|ENST00000216121|protein_coding|5/10|c.393C>T|p.Gly131Gly|648/2237|393/855|131/284||,A|synonymous_variant|LOW|NIPSNAP1|ENSG00000184117|transcript|ENST00000415100|protein_coding|6/8|c.441C>T|p.Gly147Gly|442/661|441/660|147/219||WARNING_TRANSCRIPT_NO_START_CODON,A|5_prime_UTR_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000437094|protein_coding|5/7|c.-13C>T|||||13|WARNING_TRANSCRIPT_NO_STOP_CODON,A|3_prime_UTR_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000455496|nonsense_mediated_decay|6/7|n.*140C>T|||||2515|,A|non_coding_exon_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000455496|nonsense_mediated_decay|6/7|n.*140C>T|||||| 22 29957894 . C T . . ANN=T|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000216121|protein_coding|4/9|c.368-43G>A||||||,T|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000415100|protein_coding|5/7|c.416-43G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000437094|protein_coding|4/6|c.-38-43G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000455496|nonsense_mediated_decay|5/6|n.*115-43G>A|||||| 22 29965168 . G C . . ANN=C|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000496944|retained_intron||n.*586C>G|||||687|,C|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000216121|protein_coding|4/9|c.367+14C>G||||||,C|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000415100|protein_coding|5/7|c.415+14C>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000437094|protein_coding|4/6|c.-39+14C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000455496|nonsense_mediated_decay|4/6|n.367+14C>G|||||| 22 29965308 . C T . . ANN=T|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000496944|retained_intron||n.*586G>A|||||547|,T|TF_binding_site_variant|MODIFIER|||PPARG|MA0065.2|||||||||,T|TF_binding_site_variant|MODIFIER|||HNF4A|MA0114.1|||||||||,T|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000216121|protein_coding|3/9|c.273-32G>A||||||,T|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000415100|protein_coding|4/7|c.321-32G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000437094|protein_coding|3/6|c.-133-32G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000455496|nonsense_mediated_decay|3/6|n.273-32G>A|||||| 22 29966242 . C G . . ANN=G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000216121|protein_coding|2/9|c.227-46G>C||||||,G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000415100|protein_coding|3/7|c.275-46G>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000437094|protein_coding|2/6|c.-179-46G>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000455496|nonsense_mediated_decay|2/6|n.227-46G>C||||||,G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000496944|retained_intron|2/2|n.245-46G>C|||||| 22 29966409 . G A . . ANN=A|missense_variant|MODERATE|NIPSNAP1|ENSG00000184117|transcript|ENST00000216121|protein_coding|2/10|c.211C>T|p.Leu71Phe|466/2237|211/855|71/284||,A|missense_variant|MODERATE|NIPSNAP1|ENSG00000184117|transcript|ENST00000415100|protein_coding|3/8|c.259C>T|p.Leu87Phe|260/661|259/660|87/219||WARNING_TRANSCRIPT_NO_START_CODON,A|5_prime_UTR_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000437094|protein_coding|2/7|c.-195C>T|||||8596|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000455496|nonsense_mediated_decay|2/7|n.211C>T||||||,A|non_coding_exon_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000496944|retained_intron|2/3|n.229C>T|||||| 22 29966487 . G A . . ANN=A|missense_variant|MODERATE|NIPSNAP1|ENSG00000184117|transcript|ENST00000216121|protein_coding|2/10|c.133C>T|p.Arg45Cys|388/2237|133/855|45/284||,A|missense_variant|MODERATE|NIPSNAP1|ENSG00000184117|transcript|ENST00000415100|protein_coding|3/8|c.181C>T|p.Arg61Cys|182/661|181/660|61/219||WARNING_TRANSCRIPT_NO_START_CODON,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|NIPSNAP1|ENSG00000184117|transcript|ENST00000437094|protein_coding|2/7|c.-273C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|5_prime_UTR_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000437094|protein_coding|2/7|c.-273C>T|||||8674|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000455496|nonsense_mediated_decay|2/7|n.133C>T||||||,A|non_coding_exon_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000496944|retained_intron|2/3|n.151C>T|||||| 22 29966549 . G A . . ANN=A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000216121|protein_coding|1/9|c.99-28C>T||||||,A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000415100|protein_coding|2/7|c.147-28C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000437094|protein_coding|1/6|c.-307-28C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000455496|nonsense_mediated_decay|1/6|n.99-28C>T||||||,A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000496944|retained_intron|1/2|n.117-28C>T|||||| 22 29966558 . T C . . ANN=C|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000216121|protein_coding|1/9|c.99-37A>G||||||,C|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000415100|protein_coding|2/7|c.147-37A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000437094|protein_coding|1/6|c.-307-37A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000455496|nonsense_mediated_decay|1/6|n.99-37A>G||||||,C|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000496944|retained_intron|1/2|n.117-37A>G|||||| 22 29976952 . C T . . ANN=T|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000216121|protein_coding|1/9|c.98+22G>A||||||,T|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000415100|protein_coding|1/7|c.89+22G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000437094|protein_coding|1/6|c.-308+225G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000455496|nonsense_mediated_decay|1/6|n.98+22G>A||||||,T|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000496944|retained_intron|1/2|n.116+22G>A||||||,T|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000494966|processed_transcript|1/1|n.42+22G>A|||||| 22 29977067 . G A . . ANN=A|missense_variant|MODERATE|NIPSNAP1|ENSG00000184117|transcript|ENST00000216121|protein_coding|1/10|c.5C>T|p.Ala2Val|260/2237|5/855|2/284||,A|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000415100|protein_coding||c.-2C>T|||||4|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000494966|processed_transcript||n.-1C>T|||||52|,A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000437094|protein_coding|1/6|c.-308+110C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000455496|nonsense_mediated_decay|1/7|n.5C>T||||||,A|non_coding_exon_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000496944|retained_intron|1/3|n.23C>T|||||| 22 29999970 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000338641|protein_coding|1/16|c.-18G>A|||||18|,A|5_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000347330|protein_coding|1/10|c.-18G>A|||||18|,A|5_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000413209|protein_coding|1/5|c.-18G>A|||||18|,A|5_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000403435|protein_coding|1/17|c.-18G>A|||||18|,A|5_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361452|protein_coding|1/16|c.-18G>A|||||18|,A|5_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000403999|protein_coding|1/16|c.-18G>A|||||18|,A|5_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000334961|protein_coding|1/15|c.-18G>A|||||18|,A|5_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000353887|protein_coding|1/15|c.-18G>A|||||18|,A|5_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000432151|nonsense_mediated_decay|1/8|n.-18G>A|||||18|,A|upstream_gene_variant|MODIFIER|RPEP4|ENSG00000233010|transcript|ENST00000437636|processed_pseudogene||n.-1G>A|||||4919|,A|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361166|protein_coding||c.-1G>A|||||18|,A|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361676|protein_coding||c.-1G>A|||||18|,A|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000397789|protein_coding||c.-1G>A|||||18|,A|non_coding_exon_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000432151|nonsense_mediated_decay|1/8|n.-18G>A|||||| 22 29999986 . C G . . ANN=G|5_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000338641|protein_coding|1/16|c.-2C>G|||||2|,G|5_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000347330|protein_coding|1/10|c.-2C>G|||||2|,G|5_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000413209|protein_coding|1/5|c.-2C>G|||||2|,G|5_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000403435|protein_coding|1/17|c.-2C>G|||||2|,G|5_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361452|protein_coding|1/16|c.-2C>G|||||2|,G|5_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000403999|protein_coding|1/16|c.-2C>G|||||2|,G|5_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000334961|protein_coding|1/15|c.-2C>G|||||2|,G|5_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000353887|protein_coding|1/15|c.-2C>G|||||2|,G|5_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000432151|nonsense_mediated_decay|1/8|n.-2C>G|||||2|,G|upstream_gene_variant|MODIFIER|RPEP4|ENSG00000233010|transcript|ENST00000437636|processed_pseudogene||n.-1C>G|||||4903|,G|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361166|protein_coding||c.-1C>G|||||2|,G|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361676|protein_coding||c.-1C>G|||||2|,G|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000397789|protein_coding||c.-1C>G|||||2|,G|non_coding_exon_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000432151|nonsense_mediated_decay|1/8|n.-2C>G|||||| 22 30032880 . C T . . ANN=T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|10/16|c.240+15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|4/16|c.240+15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|1/16|c.240+15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|5/16|c.240+15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|2/16|c.240+15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|6/16|c.240+15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|3/16|c.240+15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|9/16|c.240+15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|7/16|c.240+15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|8/16|c.240+15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|10/17|c.240+15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|4/17|c.240+15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|1/17|c.240+15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|5/17|c.240+15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|2/17|c.240+15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|6/17|c.240+15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|3/17|c.240+15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|9/17|c.240+15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|7/17|c.240+15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|8/17|c.240+15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|10/17|c.240+15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|4/17|c.240+15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|5/17|c.240+15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|1/17|c.240+15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|2/17|c.240+15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|6/17|c.240+15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|3/17|c.240+15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|9/17|c.240+15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|7/17|c.240+15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|8/17|c.240+15C>T||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000338641|protein_coding|2/15|c.240+15C>T||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000347330|protein_coding|1/9|c.115-5311C>T||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000413209|protein_coding|2/4|c.240+15C>T||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000403435|protein_coding|2/16|c.240+15C>T||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361452|protein_coding|2/15|c.240+15C>T||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000403999|protein_coding|2/15|c.240+15C>T||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000334961|protein_coding|1/14|c.115-5311C>T||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000353887|protein_coding|1/14|c.115-5311C>T||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000432151|nonsense_mediated_decay|1/7|n.115-5311C>T||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361166|protein_coding|2/16|c.240+15C>T||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361676|protein_coding|1/15|c.115-2199C>T||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000397789|protein_coding|2/16|c.240+15C>T|||||| 22 30035076 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|NF2|ENSG00000186575|transcript|ENST00000338641|protein_coding|2/15|c.241-3C>T||||||,T|splice_region_variant&intron_variant|LOW|NF2|ENSG00000186575|transcript|ENST00000413209|protein_coding|2/4|c.241-3C>T||||||,T|splice_region_variant&intron_variant|LOW|NF2|ENSG00000186575|transcript|ENST00000403435|protein_coding|2/16|c.241-3C>T||||||,T|splice_region_variant&intron_variant|LOW|NF2|ENSG00000186575|transcript|ENST00000403999|protein_coding|2/15|c.241-3C>T||||||,T|splice_region_variant&intron_variant|LOW|NF2|ENSG00000186575|transcript|ENST00000361166|protein_coding|2/16|c.241-3C>T||||||,T|splice_region_variant&intron_variant|LOW|NF2|ENSG00000186575|transcript|ENST00000361676|protein_coding|1/15|c.115-3C>T||||||,T|splice_region_variant&intron_variant|LOW|NF2|ENSG00000186575|transcript|ENST00000397789|protein_coding|2/16|c.241-3C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|10/16|c.241-3C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|4/16|c.241-3C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|1/16|c.241-3C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|5/16|c.241-3C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|2/16|c.241-3C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|6/16|c.241-3C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|3/16|c.241-3C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|9/16|c.241-3C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|7/16|c.241-3C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|8/16|c.241-3C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|10/17|c.241-3C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|4/17|c.241-3C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|1/17|c.241-3C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|5/17|c.241-3C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|2/17|c.241-3C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|6/17|c.241-3C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|3/17|c.241-3C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|9/17|c.241-3C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|7/17|c.241-3C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|8/17|c.241-3C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|10/17|c.241-3C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|4/17|c.241-3C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|5/17|c.241-3C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|1/17|c.241-3C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|2/17|c.241-3C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|6/17|c.241-3C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|3/17|c.241-3C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|9/17|c.241-3C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|7/17|c.241-3C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|8/17|c.241-3C>T||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000347330|protein_coding|1/9|c.115-3115C>T||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361452|protein_coding|2/15|c.240+2211C>T||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000334961|protein_coding|1/14|c.115-3115C>T||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000353887|protein_coding|1/14|c.115-3115C>T||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000432151|nonsense_mediated_decay|1/7|n.115-3115C>T|||||| 22 30038152 . A C . . ANN=C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|10/16|c.364-39A>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|4/16|c.364-39A>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|1/16|c.364-39A>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|5/16|c.364-39A>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|2/16|c.364-39A>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|6/16|c.364-39A>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|3/16|c.364-39A>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|9/16|c.364-39A>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|7/16|c.364-39A>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|8/16|c.364-39A>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|helix|ENST00000338641|protein_coding|4/16|c.364-39A>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|helix|ENST00000338641|protein_coding|3/16|c.364-39A>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|helix|ENST00000413209|protein_coding|4/5|c.364-39A>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|helix|ENST00000413209|protein_coding|3/5|c.364-39A>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|10/17|c.364-39A>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|4/17|c.364-39A>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|1/17|c.364-39A>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|5/17|c.364-39A>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|2/17|c.364-39A>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|6/17|c.364-39A>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|3/17|c.364-39A>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|9/17|c.364-39A>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|7/17|c.364-39A>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|8/17|c.364-39A>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|helix|ENST00000403435|protein_coding|4/17|c.364-39A>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|helix|ENST00000403435|protein_coding|3/17|c.364-39A>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|10/17|c.364-39A>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|4/17|c.364-39A>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|5/17|c.364-39A>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|1/17|c.364-39A>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|2/17|c.364-39A>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|6/17|c.364-39A>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|3/17|c.364-39A>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|9/17|c.364-39A>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|7/17|c.364-39A>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|8/17|c.364-39A>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|helix|ENST00000361166|protein_coding|4/17|c.364-39A>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|helix|ENST00000361166|protein_coding|3/17|c.364-39A>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|helix|ENST00000361676|protein_coding|3/16|c.238-39A>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|helix|ENST00000361676|protein_coding|2/16|c.238-39A>C||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000338641|protein_coding|3/15|c.364-39A>C||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000347330|protein_coding|1/9|c.115-39A>C||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000413209|protein_coding|3/4|c.364-39A>C||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000403435|protein_coding|3/16|c.364-39A>C||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361452|protein_coding|2/15|c.241-39A>C||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000403999|protein_coding|3/15|c.364-39A>C||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000334961|protein_coding|1/14|c.115-39A>C||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000353887|protein_coding|1/14|c.115-39A>C||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000432151|nonsense_mediated_decay|1/7|n.115-39A>C||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361166|protein_coding|3/16|c.364-39A>C||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361676|protein_coding|2/15|c.238-39A>C||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000397789|protein_coding|3/16|c.364-39A>C|||||| 22 30054302 . T C . . 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22 30057159 . G A . . 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22 30057174 . T C . . ANN=C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|10/16|c.676-20T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|4/16|c.676-20T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|1/16|c.676-20T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|5/16|c.676-20T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|2/16|c.676-20T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|6/16|c.676-20T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|3/16|c.676-20T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|9/16|c.676-20T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|7/16|c.676-20T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|8/16|c.676-20T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|beta_strand|ENST00000338641|protein_coding|7/16|c.676-20T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|beta_strand|ENST00000338641|protein_coding|8/16|c.676-20T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|10/17|c.676-20T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|4/17|c.676-20T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|1/17|c.676-20T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|5/17|c.676-20T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|2/17|c.676-20T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|6/17|c.676-20T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|3/17|c.676-20T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|9/17|c.676-20T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|7/17|c.676-20T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|8/17|c.676-20T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|beta_strand|ENST00000403435|protein_coding|7/17|c.676-20T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|beta_strand|ENST00000403435|protein_coding|8/17|c.676-20T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|beta_strand|ENST00000361452|protein_coding|6/16|c.553-20T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|beta_strand|ENST00000361452|protein_coding|7/16|c.553-20T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|beta_strand|ENST00000353887|protein_coding|5/15|c.427-20T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|beta_strand|ENST00000353887|protein_coding|6/15|c.427-20T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|10/17|c.676-20T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|4/17|c.676-20T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|5/17|c.676-20T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|1/17|c.676-20T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|2/17|c.676-20T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|6/17|c.676-20T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|3/17|c.676-20T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|9/17|c.676-20T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|7/17|c.676-20T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|8/17|c.676-20T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|beta_strand|ENST00000361166|protein_coding|7/17|c.676-20T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|beta_strand|ENST00000361166|protein_coding|8/17|c.676-20T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|beta_strand|ENST00000361676|protein_coding|6/16|c.550-20T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|beta_strand|ENST00000361676|protein_coding|7/16|c.550-20T>C||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000338641|protein_coding|7/15|c.676-20T>C||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000347330|protein_coding|2/9|c.199-20T>C||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000413209|protein_coding|4/4|c.447+18900T>C||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000403435|protein_coding|7/16|c.676-20T>C||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361452|protein_coding|6/15|c.553-20T>C||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000403999|protein_coding|7/15|c.676-20T>C||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000334961|protein_coding|5/14|c.427-20T>C||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000353887|protein_coding|5/14|c.427-20T>C||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000432151|nonsense_mediated_decay|2/7|n.199-20T>C||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361166|protein_coding|7/16|c.676-20T>C||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361676|protein_coding|6/15|c.550-20T>C||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000397789|protein_coding|7/16|c.676-20T>C|||||| 22 30057201 . A G . . 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C T . . ANN=T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|10/16|c.811-34C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|4/16|c.811-34C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|1/16|c.811-34C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|5/16|c.811-34C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|2/16|c.811-34C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|6/16|c.811-34C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|3/16|c.811-34C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|9/16|c.811-34C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|7/16|c.811-34C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|8/16|c.811-34C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|beta_strand|ENST00000338641|protein_coding|9/16|c.811-34C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|beta_strand|ENST00000338641|protein_coding|8/16|c.811-34C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|10/17|c.811-34C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|4/17|c.811-34C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|1/17|c.811-34C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|5/17|c.811-34C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|2/17|c.811-34C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|6/17|c.811-34C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|3/17|c.811-34C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|9/17|c.811-34C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|7/17|c.811-34C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|8/17|c.811-34C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|beta_strand|ENST00000403435|protein_coding|9/17|c.811-34C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|beta_strand|ENST00000403435|protein_coding|8/17|c.811-34C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|beta_strand|ENST00000361452|protein_coding|8/16|c.688-34C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|beta_strand|ENST00000361452|protein_coding|7/16|c.688-34C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|beta_strand|ENST00000353887|protein_coding|7/15|c.562-34C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|beta_strand|ENST00000353887|protein_coding|6/15|c.562-34C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|10/17|c.811-34C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|4/17|c.811-34C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|5/17|c.811-34C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|1/17|c.811-34C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|2/17|c.811-34C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|6/17|c.811-34C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|3/17|c.811-34C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|9/17|c.811-34C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|7/17|c.811-34C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|8/17|c.811-34C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|beta_strand|ENST00000361166|protein_coding|9/17|c.811-34C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|beta_strand|ENST00000361166|protein_coding|8/17|c.811-34C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|beta_strand|ENST00000361676|protein_coding|8/16|c.685-34C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|beta_strand|ENST00000361676|protein_coding|7/16|c.685-34C>T||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000338641|protein_coding|8/15|c.811-34C>T||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000347330|protein_coding|3/9|c.334-34C>T||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000413209|protein_coding|4/4|c.447+22671C>T||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000403435|protein_coding|8/16|c.811-34C>T||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361452|protein_coding|7/15|c.688-34C>T||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000403999|protein_coding|8/15|c.811-34C>T||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000334961|protein_coding|6/14|c.562-34C>T||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000353887|protein_coding|6/14|c.562-34C>T||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000432151|nonsense_mediated_decay|3/7|n.334-34C>T||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361166|protein_coding|8/16|c.811-34C>T||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361676|protein_coding|7/15|c.685-34C>T||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000397789|protein_coding|8/16|c.811-34C>T|||||| 22 30060962 . C G . . ANN=G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|10/16|c.811-17C>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|4/16|c.811-17C>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|1/16|c.811-17C>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|5/16|c.811-17C>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|2/16|c.811-17C>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|6/16|c.811-17C>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|3/16|c.811-17C>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|9/16|c.811-17C>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|7/16|c.811-17C>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|8/16|c.811-17C>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|beta_strand|ENST00000338641|protein_coding|9/16|c.811-17C>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|beta_strand|ENST00000338641|protein_coding|8/16|c.811-17C>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|10/17|c.811-17C>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|4/17|c.811-17C>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|1/17|c.811-17C>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|5/17|c.811-17C>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|2/17|c.811-17C>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|6/17|c.811-17C>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|3/17|c.811-17C>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|9/17|c.811-17C>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|7/17|c.811-17C>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|8/17|c.811-17C>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|beta_strand|ENST00000403435|protein_coding|9/17|c.811-17C>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|beta_strand|ENST00000403435|protein_coding|8/17|c.811-17C>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|beta_strand|ENST00000361452|protein_coding|8/16|c.688-17C>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|beta_strand|ENST00000361452|protein_coding|7/16|c.688-17C>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|beta_strand|ENST00000353887|protein_coding|7/15|c.562-17C>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|beta_strand|ENST00000353887|protein_coding|6/15|c.562-17C>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|10/17|c.811-17C>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|4/17|c.811-17C>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|5/17|c.811-17C>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|1/17|c.811-17C>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|2/17|c.811-17C>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|6/17|c.811-17C>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|3/17|c.811-17C>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|9/17|c.811-17C>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|7/17|c.811-17C>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|8/17|c.811-17C>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|beta_strand|ENST00000361166|protein_coding|9/17|c.811-17C>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|beta_strand|ENST00000361166|protein_coding|8/17|c.811-17C>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|beta_strand|ENST00000361676|protein_coding|8/16|c.685-17C>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|beta_strand|ENST00000361676|protein_coding|7/16|c.685-17C>G||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000338641|protein_coding|8/15|c.811-17C>G||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000347330|protein_coding|3/9|c.334-17C>G||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000413209|protein_coding|4/4|c.447+22688C>G||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000403435|protein_coding|8/16|c.811-17C>G||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361452|protein_coding|7/15|c.688-17C>G||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000403999|protein_coding|8/15|c.811-17C>G||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000334961|protein_coding|6/14|c.562-17C>G||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000353887|protein_coding|6/14|c.562-17C>G||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000432151|nonsense_mediated_decay|3/7|n.334-17C>G||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361166|protein_coding|8/16|c.811-17C>G||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361676|protein_coding|7/15|c.685-17C>G||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000397789|protein_coding|8/16|c.811-17C>G|||||| 22 30061050 . G A . . 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|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|3/17|c.882G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|9/17|c.882G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|7/17|c.882G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|8/17|c.882G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|helix|ENST00000361166|protein_coding|10/17|c.882G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|helix|ENST00000361166|protein_coding|9/17|c.882G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|helix|ENST00000361676|protein_coding|9/16|c.756G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|helix|ENST00000361676|protein_coding|8/16|c.756G>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000413209|protein_coding|4/4|c.447+22776G>A||||||,A|non_coding_exon_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000432151|nonsense_mediated_decay|4/8|n.405G>A|||||| 22 30064290 . A G . . 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22 30064307 . C T . . ANN=T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|10/16|c.886-15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|4/16|c.886-15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|1/16|c.886-15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|5/16|c.886-15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|2/16|c.886-15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|6/16|c.886-15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|3/16|c.886-15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|9/16|c.886-15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|7/16|c.886-15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|8/16|c.886-15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|helix|ENST00000338641|protein_coding|10/16|c.886-15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|helix|ENST00000338641|protein_coding|9/16|c.886-15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|10/17|c.886-15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|4/17|c.886-15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|1/17|c.886-15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|5/17|c.886-15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|2/17|c.886-15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|6/17|c.886-15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|3/17|c.886-15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|9/17|c.886-15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|7/17|c.886-15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|8/17|c.886-15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|helix|ENST00000403435|protein_coding|10/17|c.886-15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|helix|ENST00000403435|protein_coding|9/17|c.886-15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|helix|ENST00000361452|protein_coding|9/16|c.763-15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|helix|ENST00000361452|protein_coding|8/16|c.763-15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|helix|ENST00000353887|protein_coding|8/15|c.637-15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|helix|ENST00000353887|protein_coding|7/15|c.637-15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|10/17|c.886-15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|4/17|c.886-15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|5/17|c.886-15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|1/17|c.886-15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|2/17|c.886-15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|6/17|c.886-15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|3/17|c.886-15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|9/17|c.886-15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|7/17|c.886-15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|8/17|c.886-15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|helix|ENST00000361166|protein_coding|10/17|c.886-15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|helix|ENST00000361166|protein_coding|9/17|c.886-15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|helix|ENST00000361676|protein_coding|9/16|c.760-15C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|helix|ENST00000361676|protein_coding|8/16|c.760-15C>T||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000338641|protein_coding|9/15|c.886-15C>T||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000347330|protein_coding|4/9|c.409-15C>T||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000413209|protein_coding|4/4|c.447+26033C>T||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000403435|protein_coding|9/16|c.886-15C>T||||||,T|intron_variant|MODIFIER|NF2|ENSG00000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22 30064339 . C T . . 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e|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|3/17|c.903C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|9/17|c.903C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|7/17|c.903C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|8/17|c.903C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|helix|ENST00000361166|protein_coding|10/17|c.903C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|helix|ENST00000361166|protein_coding|9/17|c.903C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|helix|ENST00000361676|protein_coding|9/16|c.777C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|helix|ENST00000361676|protein_coding|8/16|c.777C>T||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000413209|protein_coding|4/4|c.447+26065C>T||||||,T|non_coding_exon_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000432151|nonsense_mediated_decay|5/8|n.426C>T|||||| 22 30064440 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|NF2|ENSG00000186575|transcript|ENST00000338641|protein_coding|10/15|c.999+5G>A||||||,A|splice_region_variant&intron_variant|LOW|NF2|ENSG00000186575|transcript|ENST00000347330|protein_coding|5/9|c.522+5G>A||||||,A|splice_region_variant&intron_variant|LOW|NF2|ENSG00000186575|transcript|ENST00000403435|protein_coding|10/16|c.999+5G>A||||||,A|splice_region_variant&intron_variant|LOW|NF2|ENSG00000186575|transcript|ENST00000361452|protein_coding|9/15|c.876+5G>A||||||,A|splice_region_variant&intron_variant|LOW|NF2|ENSG00000186575|transcript|ENST00000403999|protein_coding|10/15|c.999+5G>A||||||,A|splice_region_variant&intron_variant|LOW|NF2|ENSG00000186575|transcript|ENST00000334961|protein_coding|8/14|c.750+5G>A||||||,A|splice_region_variant&intron_variant|LOW|NF2|ENSG00000186575|transcript|ENST00000353887|protein_coding|8/14|c.750+5G>A||||||,A|splice_region_variant&intron_variant|LOW|NF2|ENSG00000186575|transcript|ENST00000432151|nonsense_mediated_decay|5/7|n.522+5G>A||||||,A|splice_region_variant&intron_variant|LOW|NF2|ENSG00000186575|transcript|ENST00000361166|protein_coding|10/16|c.999+5G>A||||||,A|splice_region_variant&intron_variant|LOW|NF2|ENSG00000186575|transcript|ENST00000361676|protein_coding|9/15|c.873+5G>A||||||,A|splice_region_variant&intron_variant|LOW|NF2|ENSG00000186575|transcript|ENST00000397789|protein_coding|10/16|c.999+5G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000338641|protein_coding|10/16|c.999+5G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000338641|protein_coding|11/16|c.999+5G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000338641|protein_coding|13/16|c.999+5G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000338641|protein_coding|12/16|c.999+5G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361452|protein_coding|9/16|c.876+5G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361452|protein_coding|10/16|c.876+5G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361452|protein_coding|12/16|c.876+5G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361452|protein_coding|11/16|c.876+5G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000353887|protein_coding|8/15|c.750+5G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000353887|protein_coding|9/15|c.750+5G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000353887|protein_coding|11/15|c.750+5G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000353887|protein_coding|10/15|c.750+5G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361166|protein_coding|10/17|c.999+5G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361166|protein_coding|11/17|c.999+5G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361166|protein_coding|13/17|c.999+5G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361166|protein_coding|12/17|c.999+5G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361676|protein_coding|9/16|c.873+5G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361676|protein_coding|10/16|c.873+5G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361676|protein_coding|12/16|c.873+5G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361676|protein_coding|11/16|c.873+5G>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000413209|protein_coding|4/4|c.447+26166G>A|||||| 22 30064474 . T TG . . ANN=G|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000338641|protein_coding|10/16|c.999+39_999+40insG||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000338641|protein_coding|11/16|c.999+39_999+40insG||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000338641|protein_coding|13/16|c.999+39_999+40insG||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000338641|protein_coding|12/16|c.999+39_999+40insG||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361452|protein_coding|9/16|c.876+39_876+40insG||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361452|protein_coding|10/16|c.876+39_876+40insG||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361452|protein_coding|12/16|c.876+39_876+40insG||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361452|protein_coding|11/16|c.876+39_876+40insG||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000353887|protein_coding|8/15|c.750+39_750+40insG||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000353887|protein_coding|9/15|c.750+39_750+40insG||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000353887|protein_coding|11/15|c.750+39_750+40insG||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000353887|protein_coding|10/15|c.750+39_750+40insG||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361166|protein_coding|10/17|c.999+39_999+40insG||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361166|protein_coding|11/17|c.999+39_999+40insG||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361166|protein_coding|13/17|c.999+39_999+40insG||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361166|protein_coding|12/17|c.999+39_999+40insG||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361676|protein_coding|9/16|c.873+39_873+40insG||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361676|protein_coding|10/16|c.873+39_873+40insG||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361676|protein_coding|12/16|c.873+39_873+40insG||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361676|protein_coding|11/16|c.873+39_873+40insG||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000338641|protein_coding|10/15|c.999+41dupG||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000347330|protein_coding|5/9|c.522+41dupG||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000413209|protein_coding|4/4|c.447+26202dupG||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000403435|protein_coding|10/16|c.999+41dupG||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361452|protein_coding|9/15|c.876+41dupG||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000403999|protein_coding|10/15|c.999+41dupG||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000334961|protein_coding|8/14|c.750+41dupG||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000353887|protein_coding|8/14|c.750+41dupG||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000432151|nonsense_mediated_decay|5/7|n.522+41dupG||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361166|protein_coding|10/16|c.999+41dupG||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361676|protein_coding|9/15|c.873+41dupG||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000397789|protein_coding|10/16|c.999+41dupG||||||INFO_REALIGN_3_PRIME 22 30067776 . C A . . ANN=A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000338641|protein_coding|10/16|c.1000-39C>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000338641|protein_coding|11/16|c.1000-39C>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000338641|protein_coding|13/16|c.1000-39C>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000338641|protein_coding|12/16|c.1000-39C>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361452|protein_coding|9/16|c.877-39C>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361452|protein_coding|10/16|c.877-39C>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361452|protein_coding|12/16|c.877-39C>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361452|protein_coding|11/16|c.877-39C>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000353887|protein_coding|8/15|c.751-39C>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000353887|protein_coding|9/15|c.751-39C>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000353887|protein_coding|11/15|c.751-39C>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000353887|protein_coding|10/15|c.751-39C>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361166|protein_coding|10/17|c.1000-39C>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361166|protein_coding|11/17|c.1000-39C>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361166|protein_coding|13/17|c.1000-39C>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361166|protein_coding|12/17|c.1000-39C>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361676|protein_coding|9/16|c.874-39C>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361676|protein_coding|10/16|c.874-39C>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361676|protein_coding|12/16|c.874-39C>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361676|protein_coding|11/16|c.874-39C>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000338641|protein_coding|10/15|c.1000-39C>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000347330|protein_coding|5/9|c.523-3049C>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000413209|protein_coding|4/4|c.448-22965C>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000403435|protein_coding|10/16|c.1000-126C>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361452|protein_coding|9/15|c.877-39C>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000403999|protein_coding|10/15|c.1000-39C>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000334961|protein_coding|8/14|c.751-39C>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000353887|protein_coding|8/14|c.751-39C>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000432151|nonsense_mediated_decay|5/7|n.523-3049C>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361166|protein_coding|10/16|c.1000-39C>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361676|protein_coding|9/15|c.874-39C>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000397789|protein_coding|10/16|c.1000-39C>A|||||| 22 30067780 . G A . . ANN=A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000338641|protein_coding|10/16|c.1000-35G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000338641|protein_coding|11/16|c.1000-35G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000338641|protein_coding|13/16|c.1000-35G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000338641|protein_coding|12/16|c.1000-35G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361452|protein_coding|9/16|c.877-35G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361452|protein_coding|10/16|c.877-35G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361452|protein_coding|12/16|c.877-35G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361452|protein_coding|11/16|c.877-35G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000353887|protein_coding|8/15|c.751-35G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000353887|protein_coding|9/15|c.751-35G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000353887|protein_coding|11/15|c.751-35G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000353887|protein_coding|10/15|c.751-35G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361166|protein_coding|10/17|c.1000-35G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361166|protein_coding|11/17|c.1000-35G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361166|protein_coding|13/17|c.1000-35G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361166|protein_coding|12/17|c.1000-35G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361676|protein_coding|9/16|c.874-35G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361676|protein_coding|10/16|c.874-35G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361676|protein_coding|12/16|c.874-35G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361676|protein_coding|11/16|c.874-35G>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000338641|protein_coding|10/15|c.1000-35G>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000347330|protein_coding|5/9|c.523-3045G>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000413209|protein_coding|4/4|c.448-22961G>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000403435|protein_coding|10/16|c.1000-122G>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361452|protein_coding|9/15|c.877-35G>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000403999|protein_coding|10/15|c.1000-35G>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000334961|protein_coding|8/14|c.751-35G>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000353887|protein_coding|8/14|c.751-35G>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000432151|nonsense_mediated_decay|5/7|n.523-3045G>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361166|protein_coding|10/16|c.1000-35G>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361676|protein_coding|9/15|c.874-35G>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000397789|protein_coding|10/16|c.1000-35G>A|||||| 22 30067811 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|NF2|ENSG00000186575|transcript|ENST00000338641|protein_coding|10/15|c.1000-4G>A||||||,A|splice_region_variant&intron_variant|LOW|NF2|ENSG00000186575|transcript|ENST00000361452|protein_coding|9/15|c.877-4G>A||||||,A|splice_region_variant&intron_variant|LOW|NF2|ENSG00000186575|transcript|ENST00000403999|protein_coding|10/15|c.1000-4G>A||||||,A|splice_region_variant&intron_variant|LOW|NF2|ENSG00000186575|transcript|ENST00000334961|protein_coding|8/14|c.751-4G>A||||||,A|splice_region_variant&intron_variant|LOW|NF2|ENSG00000186575|transcript|ENST00000353887|protein_coding|8/14|c.751-4G>A||||||,A|splice_region_variant&intron_variant|LOW|NF2|ENSG00000186575|transcript|ENST00000361166|protein_coding|10/16|c.1000-4G>A||||||,A|splice_region_variant&intron_variant|LOW|NF2|ENSG00000186575|transcript|ENST00000361676|protein_coding|9/15|c.874-4G>A||||||,A|splice_region_variant&intron_variant|LOW|NF2|ENSG00000186575|transcript|ENST00000397789|protein_coding|10/16|c.1000-4G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000338641|protein_coding|10/16|c.1000-4G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000338641|protein_coding|11/16|c.1000-4G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000338641|protein_coding|13/16|c.1000-4G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000338641|protein_coding|12/16|c.1000-4G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361452|protein_coding|9/16|c.877-4G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361452|protein_coding|10/16|c.877-4G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361452|protein_coding|12/16|c.877-4G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361452|protein_coding|11/16|c.877-4G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000353887|protein_coding|8/15|c.751-4G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000353887|protein_coding|9/15|c.751-4G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000353887|protein_coding|11/15|c.751-4G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000353887|protein_coding|10/15|c.751-4G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361166|protein_coding|10/17|c.1000-4G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361166|protein_coding|11/17|c.1000-4G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361166|protein_coding|13/17|c.1000-4G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361166|protein_coding|12/17|c.1000-4G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361676|protein_coding|9/16|c.874-4G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361676|protein_coding|10/16|c.874-4G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361676|protein_coding|12/16|c.874-4G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361676|protein_coding|11/16|c.874-4G>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000347330|protein_coding|5/9|c.523-3014G>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000413209|protein_coding|4/4|c.448-22930G>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000403435|protein_coding|10/16|c.1000-91G>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000432151|nonsense_mediated_decay|5/7|n.523-3014G>A|||||| 22 30067928 . C T . . ANN=T|synonymous_variant|LOW|NF2|ENSG00000186575|transcript|ENST00000338641|protein_coding|11/16|c.1113C>T|p.Asn371Asn|1554/6025|1113/1788|371/595||,T|synonymous_variant|LOW|NF2|ENSG00000186575|transcript|ENST00000403435|protein_coding|11/17|c.1026C>T|p.Asn342Asn|1437/2568|1026/1686|342/561||,T|synonymous_variant|LOW|NF2|ENSG00000186575|transcript|ENST00000361452|protein_coding|10/16|c.990C>T|p.Asn330Asn|1372/5884|990/1650|330/549||,T|synonymous_variant|LOW|NF2|ENSG00000186575|transcript|ENST00000403999|protein_coding|11/16|c.1113C>T|p.Asn371Asn|1479/2999|1113/1773|371/590||,T|synonymous_variant|LOW|NF2|ENSG00000186575|transcript|ENST00000334961|protein_coding|9/15|c.864C>T|p.Asn288Asn|1136/2020|864/1524|288/507||,T|synonymous_variant|LOW|NF2|ENSG00000186575|transcript|ENST00000353887|protein_coding|9/15|c.864C>T|p.Asn288Asn|1116/1845|864/1524|288/507||,T|synonymous_variant|LOW|NF2|ENSG00000186575|transcript|ENST00000361166|protein_coding|11/17|c.1113C>T|p.Asn371Asn|1113/1837|1113/1773|371/590||,T|synonymous_variant|LOW|NF2|ENSG00000186575|transcript|ENST00000361676|protein_coding|10/16|c.987C>T|p.Asn329Asn|987/1716|987/1647|329/548||,T|synonymous_variant|LOW|NF2|ENSG00000186575|transcript|ENST00000397789|protein_coding|11/17|c.1113C>T|p.Asn371Asn|1113/1857|1113/1773|371/590||,T|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000338641|protein_coding|10/16|c.1113C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000338641|protein_coding|11/16|c.1113C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000338641|protein_coding|13/16|c.1113C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000338641|protein_coding|12/16|c.1113C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361452|protein_coding|9/16|c.990C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361452|protein_coding|10/16|c.990C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361452|protein_coding|12/16|c.990C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361452|protein_coding|11/16|c.990C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000353887|protein_coding|8/15|c.864C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000353887|protein_coding|9/15|c.864C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000353887|protein_coding|11/15|c.864C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000353887|protein_coding|10/15|c.864C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361166|protein_coding|10/17|c.1113C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361166|protein_coding|11/17|c.1113C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361166|protein_coding|13/17|c.1113C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361166|protein_coding|12/17|c.1113C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361676|protein_coding|9/16|c.987C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361676|protein_coding|10/16|c.987C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361676|protein_coding|12/16|c.987C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361676|protein_coding|11/16|c.987C>T||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000347330|protein_coding|5/9|c.523-2897C>T||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000413209|protein_coding|4/4|c.448-22813C>T||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000432151|nonsense_mediated_decay|5/7|n.523-2897C>T|||||| 22 30067973 . T C . . ANN=C|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000338641|protein_coding|10/16|c.1122+36T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000338641|protein_coding|11/16|c.1122+36T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000338641|protein_coding|13/16|c.1122+36T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000338641|protein_coding|12/16|c.1122+36T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361452|protein_coding|9/16|c.999+36T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361452|protein_coding|10/16|c.999+36T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361452|protein_coding|12/16|c.999+36T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361452|protein_coding|11/16|c.999+36T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000353887|protein_coding|8/15|c.873+36T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000353887|protein_coding|9/15|c.873+36T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000353887|protein_coding|11/15|c.873+36T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000353887|protein_coding|10/15|c.873+36T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361166|protein_coding|10/17|c.1122+36T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361166|protein_coding|11/17|c.1122+36T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361166|protein_coding|13/17|c.1122+36T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361166|protein_coding|12/17|c.1122+36T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361676|protein_coding|9/16|c.996+36T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361676|protein_coding|10/16|c.996+36T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361676|protein_coding|12/16|c.996+36T>C||||||,C|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361676|protein_coding|11/16|c.996+36T>C||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000338641|protein_coding|11/15|c.1122+36T>C||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000347330|protein_coding|5/9|c.523-2852T>C||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000413209|protein_coding|4/4|c.448-22768T>C||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000403435|protein_coding|11/16|c.1035+36T>C||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361452|protein_coding|10/15|c.999+36T>C||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000403999|protein_coding|11/15|c.1122+36T>C||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000334961|protein_coding|9/14|c.873+36T>C||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000353887|protein_coding|9/14|c.873+36T>C||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000432151|nonsense_mediated_decay|5/7|n.523-2852T>C||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361166|protein_coding|11/16|c.1122+36T>C||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361676|protein_coding|10/15|c.996+36T>C||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000397789|protein_coding|11/16|c.1122+36T>C|||||| 22 30069252 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|NF2|ENSG00000186575|transcript|ENST00000338641|protein_coding|11/15|c.1123-6C>T||||||,T|splice_region_variant&intron_variant|LOW|NF2|ENSG00000186575|transcript|ENST00000403435|protein_coding|11/16|c.1036-6C>T||||||,T|splice_region_variant&intron_variant|LOW|NF2|ENSG00000186575|transcript|ENST00000361452|protein_coding|10/15|c.1000-6C>T||||||,T|splice_region_variant&intron_variant|LOW|NF2|ENSG00000186575|transcript|ENST00000403999|protein_coding|11/15|c.1123-6C>T||||||,T|splice_region_variant&intron_variant|LOW|NF2|ENSG00000186575|transcript|ENST00000334961|protein_coding|9/14|c.874-6C>T||||||,T|splice_region_variant&intron_variant|LOW|NF2|ENSG00000186575|transcript|ENST00000353887|protein_coding|9/14|c.874-6C>T||||||,T|splice_region_variant&intron_variant|LOW|NF2|ENSG00000186575|transcript|ENST00000361166|protein_coding|11/16|c.1123-6C>T||||||,T|splice_region_variant&intron_variant|LOW|NF2|ENSG00000186575|transcript|ENST00000361676|protein_coding|10/15|c.997-6C>T||||||,T|splice_region_variant&intron_variant|LOW|NF2|ENSG00000186575|transcript|ENST00000397789|protein_coding|11/16|c.1123-6C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000338641|protein_coding|10/16|c.1123-6C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000338641|protein_coding|11/16|c.1123-6C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000338641|protein_coding|13/16|c.1123-6C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000338641|protein_coding|12/16|c.1123-6C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361452|protein_coding|9/16|c.1000-6C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361452|protein_coding|10/16|c.1000-6C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361452|protein_coding|12/16|c.1000-6C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361452|protein_coding|11/16|c.1000-6C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000353887|protein_coding|8/15|c.874-6C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000353887|protein_coding|9/15|c.874-6C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000353887|protein_coding|11/15|c.874-6C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000353887|protein_coding|10/15|c.874-6C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361166|protein_coding|10/17|c.1123-6C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361166|protein_coding|11/17|c.1123-6C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361166|protein_coding|13/17|c.1123-6C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361166|protein_coding|12/17|c.1123-6C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361676|protein_coding|9/16|c.997-6C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361676|protein_coding|10/16|c.997-6C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361676|protein_coding|12/16|c.997-6C>T||||||,T|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361676|protein_coding|11/16|c.997-6C>T||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000347330|protein_coding|5/9|c.523-1573C>T||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000413209|protein_coding|4/4|c.448-21489C>T||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000432151|nonsense_mediated_decay|5/7|n.523-1573C>T|||||| 22 30069504 . G A . . ANN=A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000338641|protein_coding|10/16|c.1340+29G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000338641|protein_coding|11/16|c.1340+29G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000338641|protein_coding|13/16|c.1340+29G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000338641|protein_coding|12/16|c.1340+29G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361452|protein_coding|9/16|c.1217+29G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361452|protein_coding|10/16|c.1217+29G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361452|protein_coding|12/16|c.1217+29G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361452|protein_coding|11/16|c.1217+29G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000353887|protein_coding|8/15|c.1091+29G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000353887|protein_coding|9/15|c.1091+29G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000353887|protein_coding|11/15|c.1091+29G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000353887|protein_coding|10/15|c.1091+29G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361166|protein_coding|10/17|c.1340+29G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361166|protein_coding|11/17|c.1340+29G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361166|protein_coding|13/17|c.1340+29G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361166|protein_coding|12/17|c.1340+29G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361676|protein_coding|9/16|c.1214+29G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361676|protein_coding|10/16|c.1214+29G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361676|protein_coding|12/16|c.1214+29G>A||||||,A|sequence_feature|LOW|NF2|ENSG00000186575|compositionally_biased_region:Glu-rich|ENST00000361676|protein_coding|11/16|c.1214+29G>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000338641|protein_coding|12/15|c.1340+29G>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000347330|protein_coding|5/9|c.523-1321G>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000413209|protein_coding|4/4|c.448-21237G>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000403435|protein_coding|12/16|c.1253+29G>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361452|protein_coding|11/15|c.1217+29G>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000403999|protein_coding|12/15|c.1340+29G>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000334961|protein_coding|10/14|c.1091+29G>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000353887|protein_coding|10/14|c.1091+29G>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000432151|nonsense_mediated_decay|5/7|n.523-1321G>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361166|protein_coding|12/16|c.1340+29G>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361676|protein_coding|11/15|c.1214+29G>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000397789|protein_coding|12/16|c.1340+29G>A|||||| 22 30070923 . C T . . ANN=T|missense_variant|MODERATE|NF2|ENSG00000186575|transcript|ENST00000338641|protein_coding|13/16|c.1439C>T|p.Thr480Met|1880/6025|1439/1788|480/595||,T|missense_variant|MODERATE|NF2|ENSG00000186575|transcript|ENST00000403435|protein_coding|13/17|c.1352C>T|p.Thr451Met|1763/2568|1352/1686|451/561||,T|missense_variant|MODERATE|NF2|ENSG00000186575|transcript|ENST00000361452|protein_coding|12/16|c.1316C>T|p.Thr439Met|1698/5884|1316/1650|439/549||,T|missense_variant|MODERATE|NF2|ENSG00000186575|transcript|ENST00000403999|protein_coding|13/16|c.1439C>T|p.Thr480Met|1805/2999|1439/1773|480/590||,T|missense_variant|MODERATE|NF2|ENSG00000186575|transcript|ENST00000334961|protein_coding|11/15|c.1190C>T|p.Thr397Met|1462/2020|1190/1524|397/507||,T|missense_variant|MODERATE|NF2|ENSG00000186575|transcript|ENST00000353887|protein_coding|11/15|c.1190C>T|p.Thr397Met|1442/1845|1190/1524|397/507||,T|missense_variant|MODERATE|NF2|ENSG00000186575|transcript|ENST00000361166|protein_coding|13/17|c.1439C>T|p.Thr480Met|1439/1837|1439/1773|480/590||,T|missense_variant|MODERATE|NF2|ENSG00000186575|transcript|ENST00000361676|protein_coding|12/16|c.1313C>T|p.Thr438Met|1313/1716|1313/1647|438/548||,T|missense_variant|MODERATE|NF2|ENSG00000186575|transcript|ENST00000397789|protein_coding|13/17|c.1439C>T|p.Thr480Met|1439/1857|1439/1773|480/590||,T|synonymous_variant|LOW|NF2|ENSG00000186575|transcript|ENST00000347330|protein_coding|6/10|c.621C>T|p.His207His|1064/5250|621/663|207/220||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000413209|protein_coding|4/4|c.448-19818C>T||||||,T|non_coding_exon_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000432151|nonsense_mediated_decay|6/8|n.621C>T|||||| 22 30074278 . A G . . ANN=G|missense_variant|MODERATE|NF2|ENSG00000186575|transcript|ENST00000338641|protein_coding|14/16|c.1540A>G|p.Met514Val|1981/6025|1540/1788|514/595||,G|missense_variant|MODERATE|NF2|ENSG00000186575|transcript|ENST00000403435|protein_coding|14/17|c.1453A>G|p.Met485Val|1864/2568|1453/1686|485/561||,G|missense_variant|MODERATE|NF2|ENSG00000186575|transcript|ENST00000361452|protein_coding|13/16|c.1417A>G|p.Met473Val|1799/5884|1417/1650|473/549||,G|missense_variant|MODERATE|NF2|ENSG00000186575|transcript|ENST00000403999|protein_coding|14/16|c.1540A>G|p.Met514Val|1906/2999|1540/1773|514/590||,G|missense_variant|MODERATE|NF2|ENSG00000186575|transcript|ENST00000334961|protein_coding|12/15|c.1291A>G|p.Met431Val|1563/2020|1291/1524|431/507||,G|missense_variant|MODERATE|NF2|ENSG00000186575|transcript|ENST00000353887|protein_coding|12/15|c.1291A>G|p.Met431Val|1543/1845|1291/1524|431/507||,G|missense_variant|MODERATE|NF2|ENSG00000186575|transcript|ENST00000361166|protein_coding|14/17|c.1540A>G|p.Met514Val|1540/1837|1540/1773|514/590||,G|missense_variant|MODERATE|NF2|ENSG00000186575|transcript|ENST00000361676|protein_coding|13/16|c.1414A>G|p.Met472Val|1414/1716|1414/1647|472/548||,G|missense_variant|MODERATE|NF2|ENSG00000186575|transcript|ENST00000397789|protein_coding|14/17|c.1540A>G|p.Met514Val|1540/1857|1540/1773|514/590||,G|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000347330|protein_coding|7/10|c.*59A>G|||||59|,G|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000432151|nonsense_mediated_decay|7/8|n.*59A>G|||||59|,G|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000413209|protein_coding|4/4|c.448-16463A>G||||||,G|non_coding_exon_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000432151|nonsense_mediated_decay|7/8|n.*59A>G|||||| 22 30074349 . G A . . ANN=A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000338641|protein_coding|14/15|c.1574+37G>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000347330|protein_coding|7/9|c.*93+37G>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000413209|protein_coding|4/4|c.448-16392G>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000403435|protein_coding|14/16|c.1487+37G>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361452|protein_coding|13/15|c.1451+37G>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000403999|protein_coding|14/15|c.1574+37G>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000334961|protein_coding|12/14|c.1325+37G>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000353887|protein_coding|12/14|c.1325+37G>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000432151|nonsense_mediated_decay|7/7|n.*93+37G>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361166|protein_coding|14/16|c.1574+37G>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361676|protein_coding|13/15|c.1448+37G>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000397789|protein_coding|14/16|c.1574+37G>A|||||| 22 30077384 . A G . . ANN=G|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000338641|protein_coding|14/15|c.1575-44A>G||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000347330|protein_coding|7/9|c.*94-44A>G||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000413209|protein_coding|4/4|c.448-13357A>G||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000403435|protein_coding|14/16|c.1488-44A>G||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361452|protein_coding|13/15|c.1452-44A>G||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000403999|protein_coding|14/15|c.1575-44A>G||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000334961|protein_coding|12/14|c.1326-44A>G||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000353887|protein_coding|12/14|c.1326-44A>G||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000432151|nonsense_mediated_decay|7/7|n.*93+3072A>G||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361166|protein_coding|14/16|c.1575-44A>G||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361676|protein_coding|13/15|c.1449-44A>G||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000397789|protein_coding|14/16|c.1575-44A>G|||||| 22 30077423 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|NF2|ENSG00000186575|transcript|ENST00000338641|protein_coding|14/15|c.1575-5G>A||||||,A|splice_region_variant&intron_variant|LOW|NF2|ENSG00000186575|transcript|ENST00000347330|protein_coding|7/9|c.*94-5G>A||||||,A|splice_region_variant&intron_variant|LOW|NF2|ENSG00000186575|transcript|ENST00000403435|protein_coding|14/16|c.1488-5G>A||||||,A|splice_region_variant&intron_variant|LOW|NF2|ENSG00000186575|transcript|ENST00000361452|protein_coding|13/15|c.1452-5G>A||||||,A|splice_region_variant&intron_variant|LOW|NF2|ENSG00000186575|transcript|ENST00000403999|protein_coding|14/15|c.1575-5G>A||||||,A|splice_region_variant&intron_variant|LOW|NF2|ENSG00000186575|transcript|ENST00000334961|protein_coding|12/14|c.1326-5G>A||||||,A|splice_region_variant&intron_variant|LOW|NF2|ENSG00000186575|transcript|ENST00000353887|protein_coding|12/14|c.1326-5G>A||||||,A|splice_region_variant&intron_variant|LOW|NF2|ENSG00000186575|transcript|ENST00000361166|protein_coding|14/16|c.1575-5G>A||||||,A|splice_region_variant&intron_variant|LOW|NF2|ENSG00000186575|transcript|ENST00000361676|protein_coding|13/15|c.1449-5G>A||||||,A|splice_region_variant&intron_variant|LOW|NF2|ENSG00000186575|transcript|ENST00000397789|protein_coding|14/16|c.1575-5G>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000413209|protein_coding|4/4|c.448-13318G>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000432151|nonsense_mediated_decay|7/7|n.*93+3111G>A|||||| 22 30078975 . T A . . ANN=A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000338641|protein_coding|15/15|c.1737+1385T>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000347330|protein_coding|8/9|c.*257-34T>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000413209|protein_coding|4/4|c.448-11766T>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000403435|protein_coding|15/16|c.1651-34T>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361452|protein_coding|14/15|c.1615-34T>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000403999|protein_coding|15/15|c.1738-34T>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000334961|protein_coding|13/14|c.1489-34T>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000353887|protein_coding|13/14|c.1489-34T>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000432151|nonsense_mediated_decay|7/7|n.*93+4663T>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361166|protein_coding|15/16|c.1738-34T>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361676|protein_coding|14/15|c.1612-34T>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000397789|protein_coding|15/16|c.1738-34T>A|||||| 22 30079091 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000403999|protein_coding|16/16|c.*47G>A|||||47|,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000338641|protein_coding|15/15|c.1737+1501G>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000347330|protein_coding|9/9|c.*301+38G>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000413209|protein_coding|4/4|c.448-11650G>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000403435|protein_coding|16/16|c.*9+38G>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361452|protein_coding|15/15|c.*9+38G>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000334961|protein_coding|14/14|c.*9+38G>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000353887|protein_coding|14/14|c.*9+38G>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000432151|nonsense_mediated_decay|7/7|n.*93+4779G>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361166|protein_coding|16/16|c.*9+38G>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361676|protein_coding|15/15|c.*9+38G>A||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000397789|protein_coding|16/16|c.*24+23G>A|||||| 22 30090756 . G A . . ANN=A|missense_variant|MODERATE|NF2|ENSG00000186575|transcript|ENST00000338641|protein_coding|16/16|c.1753G>A|p.Ala585Thr|2194/6025|1753/1788|585/595||,A|missense_variant|MODERATE|NF2|ENSG00000186575|transcript|ENST00000413209|protein_coding|5/5|c.463G>A|p.Ala155Thr|906/4733|463/498|155/165||,A|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000347330|protein_coding|10/10|c.*317G>A|||||16537|,A|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361452|protein_coding|16/16|c.*25G>A|||||11712|,A|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000353887|protein_coding|15/15|c.*25G>A|||||11712|,A|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000432151|nonsense_mediated_decay|8/8|n.*109G>A|||||16537|,A|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361166|protein_coding|17/17|c.*25G>A|||||11712|,A|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361676|protein_coding|16/16|c.*25G>A|||||11712|,A|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000397789|protein_coding|17/17|c.*40G>A|||||11712|,A|non_coding_exon_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000432151|nonsense_mediated_decay|8/8|n.*109G>A|||||| 22 30090795 . G A . . ANN=A|splice_region_variant|LOW|NF2|ENSG00000186575|transcript|ENST00000361166|protein_coding|17/17|c.*64G>A||||||,A|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000338641|protein_coding|16/16|c.*4G>A|||||4|,A|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000347330|protein_coding|10/10|c.*356G>A|||||16576|,A|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000413209|protein_coding|5/5|c.*4G>A|||||4|,A|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361452|protein_coding|16/16|c.*64G>A|||||11751|,A|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000353887|protein_coding|15/15|c.*64G>A|||||11751|,A|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000432151|nonsense_mediated_decay|8/8|n.*148G>A|||||16576|,A|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361166|protein_coding|17/17|c.*64G>A|||||11751|,A|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361676|protein_coding|16/16|c.*64G>A|||||11751|,A|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000397789|protein_coding|17/17|c.*79G>A|||||11751|,A|non_coding_exon_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000432151|nonsense_mediated_decay|8/8|n.*148G>A|||||| 22 30123605 . G A . . ANN=A|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|3/5|c.110-46G>A||||||,A|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|4/5|c.110-46G>A||||||,A|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|5/5|c.110-46G>A||||||,A|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|2/5|c.110-46G>A||||||,A|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|1/5|c.110-46G>A||||||,A|sequence_feature|LOW|CABP7|ENSG00000100314|domain:EF-hand_1|ENST00000216144|protein_coding|2/5|c.110-46G>A||||||,A|sequence_feature|LOW|CABP7|ENSG00000100314|domain:EF-hand_1|ENST00000216144|protein_coding|1/5|c.110-46G>A||||||,A|sequence_feature|LOW|CABP7|ENSG00000100314|helix|ENST00000216144|protein_coding|2/5|c.110-46G>A||||||,A|sequence_feature|LOW|CABP7|ENSG00000100314|helix|ENST00000216144|protein_coding|1/5|c.110-46G>A||||||,A|downstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000344318|protein_coding||c.*630C>T|||||3340|,A|downstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000397781|protein_coding||c.*764C>T|||||3343|,A|intron_variant|MODIFIER|CABP7|ENSG00000100314|transcript|ENST00000216144|protein_coding|1/4|c.110-46G>A|||||| 22 30123615 . G A . . ANN=A|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|3/5|c.110-36G>A||||||,A|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|4/5|c.110-36G>A||||||,A|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|5/5|c.110-36G>A||||||,A|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|2/5|c.110-36G>A||||||,A|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|1/5|c.110-36G>A||||||,A|sequence_feature|LOW|CABP7|ENSG00000100314|domain:EF-hand_1|ENST00000216144|protein_coding|2/5|c.110-36G>A||||||,A|sequence_feature|LOW|CABP7|ENSG00000100314|domain:EF-hand_1|ENST00000216144|protein_coding|1/5|c.110-36G>A||||||,A|sequence_feature|LOW|CABP7|ENSG00000100314|helix|ENST00000216144|protein_coding|2/5|c.110-36G>A||||||,A|sequence_feature|LOW|CABP7|ENSG00000100314|helix|ENST00000216144|protein_coding|1/5|c.110-36G>A||||||,A|downstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000344318|protein_coding||c.*630C>T|||||3330|,A|downstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000397781|protein_coding||c.*764C>T|||||3333|,A|intron_variant|MODIFIER|CABP7|ENSG00000100314|transcript|ENST00000216144|protein_coding|1/4|c.110-36G>A|||||| 22 30123751 . C T . . ANN=T|synonymous_variant|LOW|CABP7|ENSG00000100314|transcript|ENST00000216144|protein_coding|2/5|c.210C>T|p.Asn70Asn|551/3259|210/648|70/215||,T|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|3/5|c.210C>T||||||,T|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|4/5|c.210C>T||||||,T|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|5/5|c.210C>T||||||,T|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|2/5|c.210C>T||||||,T|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|1/5|c.210C>T||||||,T|sequence_feature|LOW|CABP7|ENSG00000100314|domain:EF-hand_2|ENST00000216144|protein_coding|3/5|c.210C>T||||||,T|sequence_feature|LOW|CABP7|ENSG00000100314|domain:EF-hand_2|ENST00000216144|protein_coding|2/5|c.210C>T||||||,T|downstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000344318|protein_coding||c.*630G>A|||||3194|,T|downstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000397781|protein_coding||c.*764G>A|||||3197| 22 30123802 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|CABP7|ENSG00000100314|transcript|ENST00000216144|protein_coding|2/4|c.253+8C>T||||||,T|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|3/5|c.253+8C>T||||||,T|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|4/5|c.253+8C>T||||||,T|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|5/5|c.253+8C>T||||||,T|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|2/5|c.253+8C>T||||||,T|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|1/5|c.253+8C>T||||||,T|sequence_feature|LOW|CABP7|ENSG00000100314|domain:EF-hand_2|ENST00000216144|protein_coding|3/5|c.253+8C>T||||||,T|sequence_feature|LOW|CABP7|ENSG00000100314|domain:EF-hand_2|ENST00000216144|protein_coding|2/5|c.253+8C>T||||||,T|sequence_feature|LOW|CABP7|ENSG00000100314|calcium-binding_region:2|ENST00000216144|protein_coding|3/5|c.253+8C>T||||||,T|sequence_feature|LOW|CABP7|ENSG00000100314|calcium-binding_region:2|ENST00000216144|protein_coding|2/5|c.253+8C>T||||||,T|downstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000344318|protein_coding||c.*630G>A|||||3143|,T|downstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000397781|protein_coding||c.*764G>A|||||3146| 22 30123833 . T C . . ANN=C|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|3/5|c.253+39T>C||||||,C|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|4/5|c.253+39T>C||||||,C|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|5/5|c.253+39T>C||||||,C|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|2/5|c.253+39T>C||||||,C|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|1/5|c.253+39T>C||||||,C|sequence_feature|LOW|CABP7|ENSG00000100314|domain:EF-hand_2|ENST00000216144|protein_coding|3/5|c.253+39T>C||||||,C|sequence_feature|LOW|CABP7|ENSG00000100314|domain:EF-hand_2|ENST00000216144|protein_coding|2/5|c.253+39T>C||||||,C|sequence_feature|LOW|CABP7|ENSG00000100314|calcium-binding_region:2|ENST00000216144|protein_coding|3/5|c.253+39T>C||||||,C|sequence_feature|LOW|CABP7|ENSG00000100314|calcium-binding_region:2|ENST00000216144|protein_coding|2/5|c.253+39T>C||||||,C|downstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000344318|protein_coding||c.*630A>G|||||3112|,C|downstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000397781|protein_coding||c.*764A>G|||||3115|,C|intron_variant|MODIFIER|CABP7|ENSG00000100314|transcript|ENST00000216144|protein_coding|2/4|c.253+39T>C|||||| 22 30124614 . A T . . ANN=T|splice_region_variant&intron_variant|LOW|CABP7|ENSG00000100314|transcript|ENST00000216144|protein_coding|2/4|c.254-5A>T||||||,T|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|3/5|c.254-5A>T||||||,T|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|4/5|c.254-5A>T||||||,T|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|5/5|c.254-5A>T||||||,T|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|2/5|c.254-5A>T||||||,T|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|1/5|c.254-5A>T||||||,T|sequence_feature|LOW|CABP7|ENSG00000100314|domain:EF-hand_2|ENST00000216144|protein_coding|3/5|c.254-5A>T||||||,T|sequence_feature|LOW|CABP7|ENSG00000100314|domain:EF-hand_2|ENST00000216144|protein_coding|2/5|c.254-5A>T||||||,T|sequence_feature|LOW|CABP7|ENSG00000100314|calcium-binding_region:2|ENST00000216144|protein_coding|3/5|c.254-5A>T||||||,T|sequence_feature|LOW|CABP7|ENSG00000100314|calcium-binding_region:2|ENST00000216144|protein_coding|2/5|c.254-5A>T||||||,T|downstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000344318|protein_coding||c.*630T>A|||||2331|,T|downstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000397781|protein_coding||c.*764T>A|||||2334| 22 30124708 . G A . . ANN=A|missense_variant|MODERATE|CABP7|ENSG00000100314|transcript|ENST00000216144|protein_coding|3/5|c.343G>A|p.Asp115Asn|684/3259|343/648|115/215||,A|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|3/5|c.343G>A||||||,A|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|4/5|c.343G>A||||||,A|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|5/5|c.343G>A||||||,A|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|2/5|c.343G>A||||||,A|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|1/5|c.343G>A||||||,A|downstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000344318|protein_coding||c.*630C>T|||||2237|,A|downstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000397781|protein_coding||c.*764C>T|||||2240| 22 30124780 . T C . . ANN=C|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|3/5|c.366+49T>C||||||,C|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|4/5|c.366+49T>C||||||,C|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|5/5|c.366+49T>C||||||,C|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|2/5|c.366+49T>C||||||,C|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|1/5|c.366+49T>C||||||,C|downstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000344318|protein_coding||c.*630A>G|||||2165|,C|downstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000397781|protein_coding||c.*764A>G|||||2168|,C|intron_variant|MODIFIER|CABP7|ENSG00000100314|transcript|ENST00000216144|protein_coding|3/4|c.366+49T>C|||||| 22 30125023 . C T . . ANN=T|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|3/5|c.367-21C>T||||||,T|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|4/5|c.367-21C>T||||||,T|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|5/5|c.367-21C>T||||||,T|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|2/5|c.367-21C>T||||||,T|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|1/5|c.367-21C>T||||||,T|downstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000344318|protein_coding||c.*630G>A|||||1922|,T|downstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000397781|protein_coding||c.*764G>A|||||1925|,T|intron_variant|MODIFIER|CABP7|ENSG00000100314|transcript|ENST00000216144|protein_coding|3/4|c.367-21C>T|||||| 22 30125032 . CCCCT C . . ANN=|splice_region_variant&intron_variant|LOW|CABP7|ENSG00000100314|transcript|ENST00000216144|protein_coding|3/4|c.367-9_367-6delCTCC||||||INFO_REALIGN_3_PRIME,|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|3/5|c.367-11_367-8delCCCT||||||,|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|4/5|c.367-11_367-8delCCCT||||||,|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|5/5|c.367-11_367-8delCCCT||||||,|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|2/5|c.367-11_367-8delCCCT||||||,|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|1/5|c.367-11_367-8delCCCT||||||,|downstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000344318|protein_coding||c.*630_*630delAGGG|||||1912|,|downstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000397781|protein_coding||c.*764_*764delAGGG|||||1915| 22 30125235 . G A . . ANN=A|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|3/5|c.520+38G>A||||||,A|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|4/5|c.520+38G>A||||||,A|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|5/5|c.520+38G>A||||||,A|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|2/5|c.520+38G>A||||||,A|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|1/5|c.520+38G>A||||||,A|downstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000344318|protein_coding||c.*630C>T|||||1710|,A|downstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000397781|protein_coding||c.*764C>T|||||1713|,A|intron_variant|MODIFIER|CABP7|ENSG00000100314|transcript|ENST00000216144|protein_coding|4/4|c.520+38G>A|||||| 22 30125381 . G A . . ANN=A|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|3/5|c.521-50G>A||||||,A|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|4/5|c.521-50G>A||||||,A|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|5/5|c.521-50G>A||||||,A|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|2/5|c.521-50G>A||||||,A|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|1/5|c.521-50G>A||||||,A|downstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000344318|protein_coding||c.*630C>T|||||1564|,A|downstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000397781|protein_coding||c.*764C>T|||||1567|,A|intron_variant|MODIFIER|CABP7|ENSG00000100314|transcript|ENST00000216144|protein_coding|4/4|c.521-50G>A|||||| 22 30125422 . C T . . ANN=T|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|3/5|c.521-9C>T||||||,T|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|4/5|c.521-9C>T||||||,T|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|5/5|c.521-9C>T||||||,T|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|2/5|c.521-9C>T||||||,T|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|1/5|c.521-9C>T||||||,T|downstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000344318|protein_coding||c.*630G>A|||||1523|,T|downstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000397781|protein_coding||c.*764G>A|||||1526|,T|intron_variant|MODIFIER|CABP7|ENSG00000100314|transcript|ENST00000216144|protein_coding|4/4|c.521-9C>T|||||| 22 30125490 . G A . . ANN=A|missense_variant|MODERATE|CABP7|ENSG00000100314|transcript|ENST00000216144|protein_coding|5/5|c.580G>A|p.Ala194Thr|921/3259|580/648|194/215||,A|sequence_feature|LOW|CABP7|ENSG00000100314|transmembrane_region:Transmembrane_region|ENST00000216144|protein_coding|5/5|c.580G>A||||||,A|downstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000344318|protein_coding||c.*630C>T|||||1455|,A|downstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000397781|protein_coding||c.*764C>T|||||1458| 22 30125596 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|CABP7|ENSG00000100314|transcript|ENST00000216144|protein_coding|5/5|c.*38C>T|||||38|,T|downstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000344318|protein_coding||c.*630G>A|||||1349|,T|downstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000397781|protein_coding||c.*764G>A|||||1352| 22 30127189 . T TG . . ANN=G|3_prime_UTR_variant|MODIFIER|CABP7|ENSG00000100314|transcript|ENST00000216144|protein_coding|5/5|c.*1636dupG|||||1637|INFO_REALIGN_3_PRIME,G|3_prime_UTR_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000344318|protein_coding|6/6|c.*24dupC|||||24|,G|3_prime_UTR_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000397781|protein_coding|7/7|c.*24dupC|||||24| 22 30127365 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|CABP7|ENSG00000100314|transcript|ENST00000216144|protein_coding|5/5|c.*1807G>A|||||1807|,A|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000344318|protein_coding|5/5|c.384-22C>T||||||,A|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000397781|protein_coding|6/6|c.384-22C>T|||||| 22 30127367 . G T . . ANN=T|3_prime_UTR_variant|MODIFIER|CABP7|ENSG00000100314|transcript|ENST00000216144|protein_coding|5/5|c.*1809G>T|||||1809|,T|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000344318|protein_coding|5/5|c.384-24C>A||||||,T|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000397781|protein_coding|6/6|c.384-24C>A|||||| 22 30134285 . G T . . ANN=T|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000344318|protein_coding|5/5|c.383+34C>A||||||,T|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000397781|protein_coding|6/6|c.383+34C>A|||||| 22 30134299 . G A . . ANN=A|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000344318|protein_coding|5/5|c.383+20C>T||||||,A|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000397781|protein_coding|6/6|c.383+20C>T|||||| 22 30134366 . G A . . ANN=A|synonymous_variant|LOW|ZMAT5|ENSG00000100319|transcript|ENST00000344318|protein_coding|5/6|c.336C>T|p.Asp112Asp|453/899|336/513|112/170||,A|synonymous_variant|LOW|ZMAT5|ENSG00000100319|transcript|ENST00000397781|protein_coding|6/7|c.336C>T|p.Asp112Asp|587/1030|336/513|112/170|| 22 30134381 . C T . . ANN=T|synonymous_variant|LOW|ZMAT5|ENSG00000100319|transcript|ENST00000344318|protein_coding|5/6|c.321G>A|p.Glu107Glu|438/899|321/513|107/170||,T|synonymous_variant|LOW|ZMAT5|ENSG00000100319|transcript|ENST00000397781|protein_coding|6/7|c.321G>A|p.Glu107Glu|572/1030|321/513|107/170|| 22 30136606 . C T . . ANN=T|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000344318|protein_coding|4/5|c.271+33G>A||||||,T|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000397781|protein_coding|5/6|c.271+33G>A|||||| 22 30136701 . G C . . ANN=C|missense_variant|MODERATE|ZMAT5|ENSG00000100319|transcript|ENST00000344318|protein_coding|4/6|c.209C>G|p.Ser70Cys|326/899|209/513|70/170||,C|missense_variant|MODERATE|ZMAT5|ENSG00000100319|transcript|ENST00000397781|protein_coding|5/7|c.209C>G|p.Ser70Cys|460/1030|209/513|70/170||,C|sequence_feature|LOW|ZMAT5|ENSG00000100319|zinc_finger_region:C3H1-type|ENST00000344318|protein_coding|4/6|c.209C>G||||||,C|sequence_feature|LOW|ZMAT5|ENSG00000100319|zinc_finger_region:C3H1-type|ENST00000344318|protein_coding|3/6|c.209C>G|||||| 22 30136748 . G C . . ANN=C|sequence_feature|LOW|ZMAT5|ENSG00000100319|zinc_finger_region:C3H1-type|ENST00000344318|protein_coding|4/6|c.191-29C>G||||||,C|sequence_feature|LOW|ZMAT5|ENSG00000100319|zinc_finger_region:C3H1-type|ENST00000344318|protein_coding|3/6|c.191-29C>G||||||,C|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000344318|protein_coding|3/5|c.191-29C>G||||||,C|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000397781|protein_coding|4/6|c.191-29C>G|||||| 22 30136752 . G A . . ANN=A|sequence_feature|LOW|ZMAT5|ENSG00000100319|zinc_finger_region:C3H1-type|ENST00000344318|protein_coding|4/6|c.191-33C>T||||||,A|sequence_feature|LOW|ZMAT5|ENSG00000100319|zinc_finger_region:C3H1-type|ENST00000344318|protein_coding|3/6|c.191-33C>T||||||,A|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000344318|protein_coding|3/5|c.191-33C>T||||||,A|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000397781|protein_coding|4/6|c.191-33C>T|||||| 22 30138497 . G A . . ANN=A|downstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000489010|retained_intron||n.*2468C>T|||||3659|,A|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000344318|protein_coding|2/5|c.128-28C>T||||||,A|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000397781|protein_coding|3/6|c.128-28C>T|||||| 22 30163403 . T C . . ANN=C|synonymous_variant|LOW|UQCR10|ENSG00000184076|transcript|ENST00000330029|protein_coding|1/2|c.16T>C|p.Leu6Leu|46/916|16/192|6/63||,C|synonymous_variant|LOW|UQCR10|ENSG00000184076|transcript|ENST00000401406|protein_coding|1/2|c.16T>C|p.Leu6Leu|41/584|16/189|6/62||,C|upstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000344318|protein_coding||c.-118A>G|||||453|,C|upstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000397781|protein_coding||c.-252A>G|||||434|,C|upstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000489010|retained_intron||n.-1A>G|||||403| 22 30163526 . A G . . ANN=G|missense_variant|MODERATE|UQCR10|ENSG00000184076|transcript|ENST00000330029|protein_coding|1/2|c.139A>G|p.Ile47Val|169/916|139/192|47/63||,G|missense_variant|MODERATE|UQCR10|ENSG00000184076|transcript|ENST00000401406|protein_coding|1/2|c.139A>G|p.Ile47Val|164/584|139/189|47/62||,G|upstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000344318|protein_coding||c.-118T>C|||||576|,G|upstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000397781|protein_coding||c.-252T>C|||||557|,G|upstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000489010|retained_intron||n.-1T>C|||||526| 22 30163571 . G A,T . . ANN=A|missense_variant|MODERATE|UQCR10|ENSG00000184076|transcript|ENST00000401406|protein_coding|1/2|c.184G>A|p.Ala62Thr|209/584|184/189|62/62||,T|missense_variant|MODERATE|UQCR10|ENSG00000184076|transcript|ENST00000401406|protein_coding|1/2|c.184G>T|p.Ala62Ser|209/584|184/189|62/62||,A|upstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000344318|protein_coding||c.-118C>T|||||621|,T|upstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000344318|protein_coding||c.-118C>A|||||621|,A|upstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000397781|protein_coding||c.-252C>T|||||602|,T|upstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000397781|protein_coding||c.-252C>A|||||602|,A|upstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000489010|retained_intron||n.-1C>T|||||571|,T|upstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000489010|retained_intron||n.-1C>A|||||571|,A|intron_variant|MODIFIER|UQCR10|ENSG00000184076|transcript|ENST00000330029|protein_coding|1/1|c.150+34G>A||||||,T|intron_variant|MODIFIER|UQCR10|ENSG00000184076|transcript|ENST00000330029|protein_coding|1/1|c.150+34G>T|||||| 22 30165686 . A G . . ANN=G|missense_variant|MODERATE|UQCR10|ENSG00000184076|transcript|ENST00000330029|protein_coding|2/2|c.170A>G|p.Lys57Arg|200/916|170/192|57/63||,G|3_prime_UTR_variant|MODIFIER|UQCR10|ENSG00000184076|transcript|ENST00000401406|protein_coding|2/2|c.*40A>G|||||2110|,G|upstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000344318|protein_coding||c.-118T>C|||||2736|,G|upstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000397781|protein_coding||c.-252T>C|||||2717|,G|upstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000489010|retained_intron||n.-1T>C|||||2686| 22 30184982 . C G . . ANN=G|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|20/20|c.*20G>C|||||20|,G|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|21/21|n.*2183G>C|||||38575|,G|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|21/21|c.*20G>C|||||20|,G|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|19/19|c.*20G>C|||||20|,G|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000411532|protein_coding||c.*261G>C|||||4584|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000483380|processed_transcript||n.*198G>C|||||4594|,G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000472433|processed_transcript|3/3|n.297-141G>C||||||,G|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000487486|retained_intron|7/7|n.1214G>C||||||,G|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|21/21|n.*2183G>C|||||| 22 30185114 . C T . . ANN=T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|20/20|c.2162G>A|p.Arg721His|2276/2793|2162/2274|721/757||,T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|21/21|c.2162G>A|p.Arg721His|2340/2823|2162/2274|721/757||,T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|19/19|c.1934G>A|p.Arg645His|2048/2291|1934/2046|645/681||,T|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|21/21|n.*2051G>A|||||38443|,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000411532|protein_coding||c.*261G>A|||||4452|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000483380|processed_transcript||n.*198G>A|||||4462|,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000472433|processed_transcript|3/3|n.297-273G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000487486|retained_intron|7/7|n.1082G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|21/21|n.*2051G>A|||||| 22 30185198 . C T . . ANN=T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000411532|protein_coding||c.*261G>A|||||4368|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000483380|processed_transcript||n.*198G>A|||||4378|,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|19/19|c.2103-25G>A||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000487486|retained_intron|6/6|n.1023-25G>A||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000472433|processed_transcript|3/3|n.297-357G>A||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|20/20|n.*1992-25G>A||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|20/20|c.2103-25G>A||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|18/18|c.1875-25G>A|||||| 22 30188532 . T A . . ANN=A|splice_region_variant&intron_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|17/19|c.1920-8A>T||||||,A|splice_region_variant&intron_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000487486|retained_intron|4/6|n.840-8A>T||||||,A|splice_region_variant&intron_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|18/20|n.*1809-8A>T||||||,A|splice_region_variant&intron_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|18/20|c.1920-8A>T||||||,A|splice_region_variant&intron_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|16/18|c.1692-8A>T||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000411532|protein_coding||c.*261A>T|||||1034|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000483380|processed_transcript||n.*198A>T|||||1044|,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000472433|processed_transcript|3/3|n.297-3691A>T|||||| 22 30189343 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|17/19|c.1919+6G>A||||||,T|splice_region_variant&intron_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000487486|retained_intron|4/6|n.839+6G>A||||||,T|splice_region_variant&intron_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|18/20|n.*1808+6G>A||||||,T|splice_region_variant&intron_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|18/20|c.1919+6G>A||||||,T|splice_region_variant&intron_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|16/18|c.1691+6G>A||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000411532|protein_coding||c.*261G>A|||||223|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000483380|processed_transcript||n.*198G>A|||||233|,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000472433|processed_transcript|3/3|n.297-4502G>A|||||| 22 30189346 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|17/19|c.1919+3G>A||||||,T|splice_region_variant&intron_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000487486|retained_intron|4/6|n.839+3G>A||||||,T|splice_region_variant&intron_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|18/20|n.*1808+3G>A||||||,T|splice_region_variant&intron_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|18/20|c.1919+3G>A||||||,T|splice_region_variant&intron_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|16/18|c.1691+3G>A||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000411532|protein_coding||c.*261G>A|||||220|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000483380|processed_transcript||n.*198G>A|||||230|,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000472433|processed_transcript|3/3|n.297-4505G>A|||||| 22 30189497 . T A . . ANN=A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000411532|protein_coding||c.*261A>T|||||69|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000483380|processed_transcript||n.*198A>T|||||79|,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|16/19|c.1789-18A>T||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000472433|processed_transcript|3/3|n.297-4656A>T||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|17/20|n.*1678-18A>T||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|17/20|c.1789-18A>T||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|15/18|c.1561-18A>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000487486|retained_intron|4/7|n.691A>T|||||| 22 30189504 . G A . . ANN=A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000411532|protein_coding||c.*261C>T|||||62|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000483380|processed_transcript||n.*198C>T|||||72|,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|16/19|c.1789-25C>T||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000472433|processed_transcript|3/3|n.297-4663C>T||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|17/20|n.*1678-25C>T||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|17/20|c.1789-25C>T||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|15/18|c.1561-25C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000487486|retained_intron|4/7|n.684C>T|||||| 22 30189592 . C T . . ANN=T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|16/20|c.1762G>A|p.Glu588Lys|1876/2793|1762/2274|588/757||,T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|17/21|c.1762G>A|p.Glu588Lys|1940/2823|1762/2274|588/757||,T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|15/19|c.1534G>A|p.Glu512Lys|1648/2291|1534/2046|512/681||,T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000411532|protein_coding|3/3|c.235G>A|p.Glu79Lys|235/261|235/261|79/86||WARNING_TRANSCRIPT_NO_START_CODON,T|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|17/21|n.*1651G>A|||||33965|,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000472433|processed_transcript|3/3|n.297-4751G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000487486|retained_intron|4/7|n.596G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|17/21|n.*1651G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000483380|processed_transcript|2/2|n.182G>A|||||| 22 30189642 . C T . . ANN=T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|16/20|c.1712G>A|p.Arg571Gln|1826/2793|1712/2274|571/757||,T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|17/21|c.1712G>A|p.Arg571Gln|1890/2823|1712/2274|571/757||,T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|15/19|c.1484G>A|p.Arg495Gln|1598/2291|1484/2046|495/681||,T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000411532|protein_coding|3/3|c.185G>A|p.Arg62Gln|185/261|185/261|62/86||WARNING_TRANSCRIPT_NO_START_CODON,T|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|17/21|n.*1601G>A|||||33915|,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000472433|processed_transcript|3/3|n.297-4801G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000487486|retained_intron|4/7|n.546G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|17/21|n.*1601G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000483380|processed_transcript|2/2|n.132G>A|||||| 22 30196931 . T C . . ANN=C|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000483380|processed_transcript||n.-1A>G|||||1640|,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|15/19|c.1688+49A>G||||||,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000487486|retained_intron|3/6|n.522+49A>G||||||,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000472433|processed_transcript|3/3|n.296+5855A>G||||||,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|16/20|n.*1577+49A>G||||||,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|16/20|c.1688+49A>G||||||,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|14/18|c.1460+49A>G||||||,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000411532|protein_coding|2/2|c.161+49A>G||||||WARNING_TRANSCRIPT_NO_START_CODON 22 30197031 . T C . . ANN=C|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|15/20|c.1637A>G|p.Asp546Gly|1751/2793|1637/2274|546/757||,C|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|16/21|c.1637A>G|p.Asp546Gly|1815/2823|1637/2274|546/757||,C|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|14/19|c.1409A>G|p.Asp470Gly|1523/2291|1409/2046|470/681||,C|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000411532|protein_coding|2/3|c.110A>G|p.Asp37Gly|110/261|110/261|37/86||WARNING_TRANSCRIPT_NO_START_CODON,C|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|16/21|n.*1526A>G|||||26526|,C|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000483380|processed_transcript||n.-1A>G|||||1740|,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000472433|processed_transcript|3/3|n.296+5755A>G||||||,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000487486|retained_intron|3/7|n.471A>G||||||,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|16/21|n.*1526A>G|||||| 22 30197937 . G A . . ANN=A|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000483380|processed_transcript||n.-1C>T|||||2646|,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000478812|processed_transcript||n.*827C>T|||||4266|,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000464287|processed_transcript||n.*538C>T|||||4888|,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|14/19|c.1568+46C>T||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000487486|retained_intron|2/6|n.402+46C>T||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000472433|processed_transcript|3/3|n.296+4849C>T||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|15/20|n.*1457+167C>T||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|15/20|c.1568+46C>T||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|13/18|c.1340+46C>T||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000411532|protein_coding|1/2|c.41+114C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 30197953 . C T . . ANN=T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000483380|processed_transcript||n.-1G>A|||||2662|,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000478812|processed_transcript||n.*827G>A|||||4250|,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000464287|processed_transcript||n.*538G>A|||||4872|,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|14/19|c.1568+30G>A||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000487486|retained_intron|2/6|n.402+30G>A||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000472433|processed_transcript|3/3|n.296+4833G>A||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|15/20|n.*1457+151G>A||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|15/20|c.1568+30G>A||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|13/18|c.1340+30G>A||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000411532|protein_coding|1/2|c.41+98G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 30198025 . C T . . ANN=T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|14/20|c.1526G>A|p.Arg509Gln|1640/2793|1526/2274|509/757||,T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|15/21|c.1526G>A|p.Arg509Gln|1704/2823|1526/2274|509/757||,T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|13/19|c.1298G>A|p.Arg433Gln|1412/2291|1298/2046|433/681||,T|sequence_feature|LOW|ASCC2|ENSG00000100325|domain:CUE|ENST00000307790|protein_coding|14/20|c.1526G>A||||||,T|sequence_feature|LOW|ASCC2|ENSG00000100325|domain:CUE|ENST00000542393|protein_coding|13/19|c.1298G>A||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000483380|processed_transcript||n.-1G>A|||||2734|,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000478812|processed_transcript||n.*827G>A|||||4178|,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000464287|processed_transcript||n.*538G>A|||||4800|,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000472433|processed_transcript|3/3|n.296+4761G>A||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|15/20|n.*1457+79G>A||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000411532|protein_coding|1/2|c.41+26G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000487486|retained_intron|2/7|n.360G>A|||||| 22 30198063 . G A . . ANN=A|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000411532|protein_coding|1/3|c.29C>T|p.Thr10Met|29/261|29/261|10/86||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|14/20|c.1488C>T|p.Tyr496Tyr|1602/2793|1488/2274|496/757||,A|synonymous_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|15/21|c.1488C>T|p.Tyr496Tyr|1666/2823|1488/2274|496/757||,A|synonymous_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|13/19|c.1260C>T|p.Tyr420Tyr|1374/2291|1260/2046|420/681||,A|sequence_feature|LOW|ASCC2|ENSG00000100325|domain:CUE|ENST00000307790|protein_coding|14/20|c.1488C>T||||||,A|sequence_feature|LOW|ASCC2|ENSG00000100325|turn|ENST00000307790|protein_coding|14/20|c.1488C>T||||||,A|sequence_feature|LOW|ASCC2|ENSG00000100325|domain:CUE|ENST00000542393|protein_coding|13/19|c.1260C>T||||||,A|sequence_feature|LOW|ASCC2|ENSG00000100325|turn|ENST00000542393|protein_coding|13/19|c.1260C>T||||||,A|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000483380|processed_transcript||n.-1C>T|||||2772|,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000478812|processed_transcript||n.*827C>T|||||4140|,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000464287|processed_transcript||n.*538C>T|||||4762|,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000472433|processed_transcript|3/3|n.296+4723C>T||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|15/20|n.*1457+41C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000487486|retained_intron|2/7|n.322C>T|||||| 22 30198126 . C T . . ANN=T|synonymous_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|14/20|c.1425G>A|p.Val475Val|1539/2793|1425/2274|475/757||,T|synonymous_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|15/21|c.1425G>A|p.Val475Val|1603/2823|1425/2274|475/757||,T|synonymous_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|13/19|c.1197G>A|p.Val399Val|1311/2291|1197/2046|399/681||,T|sequence_feature|LOW|ASCC2|ENSG00000100325|domain:CUE|ENST00000307790|protein_coding|14/20|c.1425G>A||||||,T|sequence_feature|LOW|ASCC2|ENSG00000100325|helix|ENST00000307790|protein_coding|14/20|c.1425G>A||||||,T|sequence_feature|LOW|ASCC2|ENSG00000100325|domain:CUE|ENST00000542393|protein_coding|13/19|c.1197G>A||||||,T|sequence_feature|LOW|ASCC2|ENSG00000100325|helix|ENST00000542393|protein_coding|13/19|c.1197G>A||||||,T|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|15/21|n.*1435G>A|||||25431|,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000411532|protein_coding||c.-1G>A|||||35|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000483380|processed_transcript||n.-1G>A|||||2835|,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000478812|processed_transcript||n.*827G>A|||||4077|,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000464287|processed_transcript||n.*538G>A|||||4699|,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000472433|processed_transcript|3/3|n.296+4660G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000487486|retained_intron|2/7|n.259G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|15/21|n.*1435G>A|||||| 22 30198183 . G A . . ANN=A|synonymous_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|14/20|c.1368C>T|p.Ala456Ala|1482/2793|1368/2274|456/757||,A|synonymous_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|15/21|c.1368C>T|p.Ala456Ala|1546/2823|1368/2274|456/757||,A|synonymous_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|13/19|c.1140C>T|p.Ala380Ala|1254/2291|1140/2046|380/681||,A|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|15/21|n.*1378C>T|||||25374|,A|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000411532|protein_coding||c.-1C>T|||||92|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000483380|processed_transcript||n.-1C>T|||||2892|,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000478812|processed_transcript||n.*827C>T|||||4020|,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000464287|processed_transcript||n.*538C>T|||||4642|,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000472433|processed_transcript|3/3|n.296+4603C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000487486|retained_intron|2/7|n.202C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|15/21|n.*1378C>T|||||| 22 30198225 . G T . . ANN=T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000411532|protein_coding||c.-1C>A|||||134|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000483380|processed_transcript||n.-1C>A|||||2934|,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000478812|processed_transcript||n.*827C>A|||||3978|,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000464287|processed_transcript||n.*538C>A|||||4600|,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|13/19|c.1354-28C>A||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000487486|retained_intron|1/6|n.188-28C>A||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000472433|processed_transcript|3/3|n.296+4561C>A||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|14/20|n.*1364-28C>A||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|14/20|c.1354-28C>A||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|12/18|c.1126-28C>A|||||| 22 30200616 . C G . . ANN=G|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000411532|protein_coding||c.-1G>C|||||2525|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000478812|processed_transcript||n.*827G>C|||||1587|,G|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000464287|processed_transcript||n.*538G>C|||||2209|,G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|13/19|c.1353+11G>C||||||,G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000487486|retained_intron|1/6|n.187+11G>C||||||,G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000472433|processed_transcript|3/3|n.296+2170G>C||||||,G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|14/20|n.*1363+11G>C||||||,G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|14/20|c.1353+11G>C||||||,G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|12/18|c.1125+11G>C|||||| 22 30200621 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|13/19|c.1353+6T>C||||||,G|splice_region_variant&intron_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000487486|retained_intron|1/6|n.187+6T>C||||||,G|splice_region_variant&intron_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|14/20|n.*1363+6T>C||||||,G|splice_region_variant&intron_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|14/20|c.1353+6T>C||||||,G|splice_region_variant&intron_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|12/18|c.1125+6T>C||||||,G|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000411532|protein_coding||c.-1T>C|||||2530|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000478812|processed_transcript||n.*827T>C|||||1582|,G|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000464287|processed_transcript||n.*538T>C|||||2204|,G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000472433|processed_transcript|3/3|n.296+2165T>C|||||| 22 30200643 . T A . . ANN=A|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|13/20|c.1337A>T|p.Asn446Ile|1451/2793|1337/2274|446/757||,A|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|14/21|c.1337A>T|p.Asn446Ile|1515/2823|1337/2274|446/757||,A|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|12/19|c.1109A>T|p.Asn370Ile|1223/2291|1109/2046|370/681||,A|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|14/21|n.*1347A>T|||||22914|,A|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000411532|protein_coding||c.-1A>T|||||2552|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000478812|processed_transcript||n.*827A>T|||||1560|,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000464287|processed_transcript||n.*538A>T|||||2182|,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000472433|processed_transcript|3/3|n.296+2143A>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000487486|retained_intron|1/7|n.171A>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|14/21|n.*1347A>T|||||| 22 30200696 . G A . . ANN=A|synonymous_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|13/20|c.1284C>T|p.Asn428Asn|1398/2793|1284/2274|428/757||,A|synonymous_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|14/21|c.1284C>T|p.Asn428Asn|1462/2823|1284/2274|428/757||,A|synonymous_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|12/19|c.1056C>T|p.Asn352Asn|1170/2291|1056/2046|352/681||,A|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|14/21|n.*1294C>T|||||22861|,A|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000411532|protein_coding||c.-1C>T|||||2605|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000478812|processed_transcript||n.*827C>T|||||1507|,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000464287|processed_transcript||n.*538C>T|||||2129|,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000472433|processed_transcript|3/3|n.296+2090C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000487486|retained_intron|1/7|n.118C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|14/21|n.*1294C>T|||||| 22 30200713 . G A . . ANN=A|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|13/20|c.1267C>T|p.Pro423Ser|1381/2793|1267/2274|423/757||,A|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|14/21|c.1267C>T|p.Pro423Ser|1445/2823|1267/2274|423/757||,A|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|12/19|c.1039C>T|p.Pro347Ser|1153/2291|1039/2046|347/681||,A|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|14/21|n.*1277C>T|||||22844|,A|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000411532|protein_coding||c.-1C>T|||||2622|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000478812|processed_transcript||n.*827C>T|||||1490|,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000464287|processed_transcript||n.*538C>T|||||2112|,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000472433|processed_transcript|3/3|n.296+2073C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000487486|retained_intron|1/7|n.101C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|14/21|n.*1277C>T|||||| 22 30200760 . T C . . ANN=C|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|13/20|c.1220A>G|p.Asp407Gly|1334/2793|1220/2274|407/757||,C|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|14/21|c.1220A>G|p.Asp407Gly|1398/2823|1220/2274|407/757||,C|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|12/19|c.992A>G|p.Asp331Gly|1106/2291|992/2046|331/681||,C|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|14/21|n.*1230A>G|||||22797|,C|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000411532|protein_coding||c.-1A>G|||||2669|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000478812|processed_transcript||n.*827A>G|||||1443|,C|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000464287|processed_transcript||n.*538A>G|||||2065|,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000472433|processed_transcript|3/3|n.296+2026A>G||||||,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000487486|retained_intron|1/7|n.54A>G||||||,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|14/21|n.*1230A>G|||||| 22 30200761 . C G . . ANN=G|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|13/20|c.1219G>C|p.Asp407His|1333/2793|1219/2274|407/757||,G|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|14/21|c.1219G>C|p.Asp407His|1397/2823|1219/2274|407/757||,G|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|12/19|c.991G>C|p.Asp331His|1105/2291|991/2046|331/681||,G|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|14/21|n.*1229G>C|||||22796|,G|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000411532|protein_coding||c.-1G>C|||||2670|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000478812|processed_transcript||n.*827G>C|||||1442|,G|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000464287|processed_transcript||n.*538G>C|||||2064|,G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000472433|processed_transcript|3/3|n.296+2025G>C||||||,G|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000487486|retained_intron|1/7|n.53G>C||||||,G|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|14/21|n.*1229G>C|||||| 22 30200801 . G C . . ANN=C|synonymous_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|13/20|c.1179C>G|p.Ala393Ala|1293/2793|1179/2274|393/757||,C|synonymous_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|14/21|c.1179C>G|p.Ala393Ala|1357/2823|1179/2274|393/757||,C|synonymous_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|12/19|c.951C>G|p.Ala317Ala|1065/2291|951/2046|317/681||,C|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|14/21|n.*1189C>G|||||22756|,C|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000411532|protein_coding||c.-1C>G|||||2710|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000478812|processed_transcript||n.*827C>G|||||1402|,C|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000464287|processed_transcript||n.*538C>G|||||2024|,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000472433|processed_transcript|3/3|n.296+1985C>G||||||,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000487486|retained_intron|1/7|n.13C>G||||||,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|14/21|n.*1189C>G|||||| 22 30202249 . G A . . ANN=A|synonymous_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|12/20|c.1116C>T|p.Pro372Pro|1230/2793|1116/2274|372/757||,A|synonymous_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|13/21|c.1116C>T|p.Pro372Pro|1294/2823|1116/2274|372/757||,A|synonymous_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|11/19|c.888C>T|p.Pro296Pro|1002/2291|888/2046|296/681||,A|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|13/21|n.*1126C>T|||||21308|,A|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000487486|retained_intron||n.-1C>T|||||1436|,A|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000411532|protein_coding||c.-1C>T|||||4158|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000464287|processed_transcript||n.*538C>T|||||576|,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000472433|processed_transcript|3/3|n.296+537C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|13/21|n.*1126C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000478812|processed_transcript|9/9|n.781C>T|||||| 22 30202518 . G A . . ANN=A|synonymous_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|11/20|c.1041C>T|p.Ile347Ile|1155/2793|1041/2274|347/757||,A|synonymous_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|12/21|c.1041C>T|p.Ile347Ile|1219/2823|1041/2274|347/757||,A|synonymous_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|10/19|c.813C>T|p.Ile271Ile|927/2291|813/2046|271/681||,A|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|12/21|n.*1051C>T|||||21039|,A|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000487486|retained_intron||n.-1C>T|||||1705|,A|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000411532|protein_coding||c.-1C>T|||||4427|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000464287|processed_transcript||n.*538C>T|||||307|,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000472433|processed_transcript|3/3|n.296+268C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|12/21|n.*1051C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000478812|processed_transcript|8/9|n.706C>T|||||| 22 30202556 . C T . . ANN=T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000487486|retained_intron||n.-1G>A|||||1743|,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000411532|protein_coding||c.-1G>A|||||4465|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000464287|processed_transcript||n.*538G>A|||||269|,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|10/19|c.1017-14G>A||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000472433|processed_transcript|3/3|n.296+230G>A||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|11/20|n.*1027-14G>A||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|11/20|c.1017-14G>A||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|9/18|c.789-14G>A||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000478812|processed_transcript|7/8|n.682-14G>A|||||| 22 30202736 . G C . . ANN=C|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000487486|retained_intron||n.-1C>G|||||1923|,C|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000411532|protein_coding||c.-1C>G|||||4645|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000464287|processed_transcript||n.*538C>G|||||89|,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|10/19|c.1016+50C>G||||||,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000472433|processed_transcript|3/3|n.296+50C>G||||||,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|11/20|n.*1026+50C>G||||||,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|11/20|c.1016+50C>G||||||,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|9/18|c.788+50C>G||||||,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000478812|processed_transcript|7/8|n.681+50C>G|||||| 22 30202774 . G C . . ANN=C|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000487486|retained_intron||n.-1C>G|||||1961|,C|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000411532|protein_coding||c.-1C>G|||||4683|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000464287|processed_transcript||n.*538C>G|||||51|,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|10/19|c.1016+12C>G||||||,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000472433|processed_transcript|3/3|n.296+12C>G||||||,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|11/20|n.*1026+12C>G||||||,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|11/20|c.1016+12C>G||||||,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|9/18|c.788+12C>G||||||,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000478812|processed_transcript|7/8|n.681+12C>G|||||| 22 30202795 . A C . . ANN=C|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|10/20|c.1007T>G|p.Leu336Arg|1121/2793|1007/2274|336/757||,C|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|11/21|c.1007T>G|p.Leu336Arg|1185/2823|1007/2274|336/757||,C|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|9/19|c.779T>G|p.Leu260Arg|893/2291|779/2046|260/681||,C|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|11/21|n.*1017T>G|||||20762|,C|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000487486|retained_intron||n.-1T>G|||||1982|,C|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000411532|protein_coding||c.-1T>G|||||4704|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000464287|processed_transcript||n.*538T>G|||||30|,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000472433|processed_transcript|3/4|n.287T>G||||||,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|11/21|n.*1017T>G||||||,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000478812|processed_transcript|7/9|n.672T>G|||||| 22 30202866 . G A . . ANN=A|synonymous_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|10/20|c.936C>T|p.Leu312Leu|1050/2793|936/2274|312/757||,A|synonymous_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|11/21|c.936C>T|p.Leu312Leu|1114/2823|936/2274|312/757||,A|synonymous_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|9/19|c.708C>T|p.Leu236Leu|822/2291|708/2046|236/681||,A|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|11/21|n.*946C>T|||||20691|,A|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000487486|retained_intron||n.-1C>T|||||2053|,A|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000411532|protein_coding||c.-1C>T|||||4775|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000472433|processed_transcript|3/4|n.216C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|11/21|n.*946C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000478812|processed_transcript|7/9|n.601C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000464287|processed_transcript|3/3|n.497C>T|||||| 22 30202898 . G T . . ANN=T|splice_region_variant&intron_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|9/19|c.909-5C>A||||||,T|splice_region_variant&intron_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000472433|processed_transcript|2/3|n.189-5C>A||||||,T|splice_region_variant&intron_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|10/20|n.*919-5C>A||||||,T|splice_region_variant&intron_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|10/20|c.909-5C>A||||||,T|splice_region_variant&intron_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|8/18|c.681-5C>A||||||,T|splice_region_variant&intron_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000478812|processed_transcript|6/8|n.574-5C>A||||||,T|splice_region_variant&intron_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000464287|processed_transcript|2/2|n.470-5C>A||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000487486|retained_intron||n.-1C>A|||||2085|,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000411532|protein_coding||c.-1C>A|||||4807|WARNING_TRANSCRIPT_NO_START_CODON 22 30209369 . T C . . ANN=C|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000464287|processed_transcript||n.-1A>G|||||3092|,C|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000449900|nonsense_mediated_decay||n.*485A>G|||||91|,C|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000431535|protein_coding||c.*873A>G|||||1277|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495967|processed_transcript||n.*554A>G|||||1826|,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|8/19|c.833+50A>G||||||,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000472433|processed_transcript|1/3|n.113+50A>G||||||,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|9/20|n.*843+50A>G||||||,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|9/20|c.833+50A>G||||||,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|7/18|c.605+50A>G||||||,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000478812|processed_transcript|5/8|n.498+50A>G|||||| 22 30209374 . C T . . ANN=T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000464287|processed_transcript||n.-1G>A|||||3097|,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000449900|nonsense_mediated_decay||n.*485G>A|||||86|,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000431535|protein_coding||c.*873G>A|||||1272|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495967|processed_transcript||n.*554G>A|||||1821|,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|8/19|c.833+45G>A||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000472433|processed_transcript|1/3|n.113+45G>A||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|9/20|n.*843+45G>A||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|9/20|c.833+45G>A||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|7/18|c.605+45G>A||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000478812|processed_transcript|5/8|n.498+45G>A|||||| 22 30209434 . T C . . ANN=C|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|8/20|c.818A>G|p.His273Arg|932/2793|818/2274|273/757||,C|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|9/21|c.818A>G|p.His273Arg|996/2823|818/2274|273/757||,C|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|7/19|c.590A>G|p.His197Arg|704/2291|590/2046|197/681||,C|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|9/21|n.*828A>G|||||14123|,C|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000464287|processed_transcript||n.-1A>G|||||3157|,C|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000449900|nonsense_mediated_decay||n.*485A>G|||||26|,C|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000431535|protein_coding||c.*873A>G|||||1212|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495967|processed_transcript||n.*554A>G|||||1761|,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000472433|processed_transcript|1/4|n.98A>G||||||,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|9/21|n.*828A>G||||||,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000478812|processed_transcript|5/9|n.483A>G|||||| 22 30209489 . T C . . ANN=C|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|8/20|c.763A>G|p.Thr255Ala|877/2793|763/2274|255/757||,C|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|9/21|c.763A>G|p.Thr255Ala|941/2823|763/2274|255/757||,C|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|7/19|c.535A>G|p.Thr179Ala|649/2291|535/2046|179/681||,C|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|9/21|n.*773A>G|||||14068|,C|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000449900|nonsense_mediated_decay|7/7|n.*66A>G|||||1180|,C|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000464287|processed_transcript||n.-1A>G|||||3212|,C|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000431535|protein_coding||c.*873A>G|||||1157|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495967|processed_transcript||n.*554A>G|||||1706|,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000472433|processed_transcript|1/4|n.43A>G||||||,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|9/21|n.*773A>G||||||,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000478812|processed_transcript|5/9|n.428A>G||||||,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000449900|nonsense_mediated_decay|7/7|n.*66A>G|||||| 22 30210600 . TG T . . ANN=|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000472433|processed_transcript||n.-1delC|||||1070|,|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000464287|processed_transcript||n.-1delC|||||4324|,|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000431535|protein_coding||c.*873delC|||||45|WARNING_TRANSCRIPT_NO_STOP_CODON,|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495967|processed_transcript||n.*554delC|||||594|,|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|7/19|c.720+45delC||||||,|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|8/20|n.*730+45delC||||||,|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|8/20|c.720+45delC||||||,|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|6/18|c.492+45delC||||||,|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000478812|processed_transcript|4/8|n.385+45delC||||||,|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000449900|nonsense_mediated_decay|6/6|n.*23+45delC|||||| 22 30210624 . C T . . ANN=T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000472433|processed_transcript||n.-1G>A|||||1093|,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000464287|processed_transcript||n.-1G>A|||||4347|,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000431535|protein_coding||c.*873G>A|||||22|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495967|processed_transcript||n.*554G>A|||||571|,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|7/19|c.720+22G>A||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|8/20|n.*730+22G>A||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|8/20|c.720+22G>A||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|6/18|c.492+22G>A||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000478812|processed_transcript|4/8|n.385+22G>A||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000449900|nonsense_mediated_decay|6/6|n.*23+22G>A|||||| 22 30210631 . G A . . ANN=A|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000472433|processed_transcript||n.-1C>T|||||1100|,A|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000464287|processed_transcript||n.-1C>T|||||4354|,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000431535|protein_coding||c.*873C>T|||||15|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495967|processed_transcript||n.*554C>T|||||564|,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|7/19|c.720+15C>T||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|8/20|n.*730+15C>T||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|8/20|c.720+15C>T||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|6/18|c.492+15C>T||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000478812|processed_transcript|4/8|n.385+15C>T||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000449900|nonsense_mediated_decay|6/6|n.*23+15C>T|||||| 22 30212006 . T C . . ANN=C|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|6/20|c.598A>G|p.Thr200Ala|712/2793|598/2274|200/757||,C|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|7/21|c.598A>G|p.Thr200Ala|776/2823|598/2274|200/757||,C|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|5/19|c.370A>G|p.Thr124Ala|484/2291|370/2046|124/681||,C|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000431535|protein_coding|7/8|c.598A>G|p.Thr200Ala|751/873|598/720|200/239||WARNING_TRANSCRIPT_NO_STOP_CODON,C|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|7/21|n.*608A>G|||||11551|,C|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000472433|processed_transcript||n.-1A>G|||||2475|,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|7/21|n.*608A>G||||||,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000478812|processed_transcript|2/9|n.145A>G||||||,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000449900|nonsense_mediated_decay|5/7|n.138A>G||||||,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495967|processed_transcript|4/5|n.455A>G|||||| 22 30221053 . C T . . ANN=T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495681|retained_intron||n.*536G>A|||||23|,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000462454|retained_intron||n.*491G>A|||||39|,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000453160|nonsense_mediated_decay||n.*163G>A|||||44|,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000460313|retained_intron||n.*568G>A|||||97|,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000477074|retained_intron||n.*554G>A|||||150|,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000454854|nonsense_mediated_decay||n.*291G>A|||||630|,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|4/19|c.411+23G>A||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|5/20|n.*421+23G>A||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|5/20|c.411+23G>A||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|3/18|c.252+23G>A||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000449900|nonsense_mediated_decay|4/6|n.81+7181G>A||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000431535|protein_coding|5/7|c.411+23G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495967|processed_transcript|2/4|n.268+23G>A||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000412689|protein_coding|3/4|c.411+23G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000465667|retained_intron|5/5|n.553+23G>A||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000463203|retained_intron|1/1|n.272+23G>A|||||| 22 30221077 . T C . . ANN=C|missense_variant&splice_region_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|4/20|c.410A>G|p.Lys137Arg|524/2793|410/2274|137/757||,C|missense_variant&splice_region_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|5/21|c.410A>G|p.Lys137Arg|588/2823|410/2274|137/757||,C|missense_variant&splice_region_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|3/19|c.251A>G|p.Lys84Arg|365/2291|251/2046|84/681||,C|missense_variant&splice_region_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000431535|protein_coding|5/8|c.410A>G|p.Lys137Arg|563/873|410/720|137/239||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant&splice_region_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000412689|protein_coding|3/5|c.410A>G|p.Lys137Arg|427/742|410/725|137/240||WARNING_TRANSCRIPT_INCOMPLETE,C|splice_region_variant&non_coding_exon_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|5/21|n.*420A>G||||||,C|splice_region_variant&non_coding_exon_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000495967|processed_transcript|2/5|n.267A>G||||||,C|splice_region_variant&non_coding_exon_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000465667|retained_intron|5/6|n.552A>G||||||,C|splice_region_variant&non_coding_exon_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000463203|retained_intron|1/2|n.271A>G||||||,C|splice_region_variant&non_coding_exon_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000495681|retained_intron|4/4|n.535A>G||||||,C|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|5/21|n.*420A>G|||||2480|,C|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000462454|retained_intron||n.*491A>G|||||15|,C|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000453160|nonsense_mediated_decay||n.*163A>G|||||20|,C|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000460313|retained_intron||n.*568A>G|||||73|,C|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000477074|retained_intron||n.*554A>G|||||126|,C|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000454854|nonsense_mediated_decay||n.*291A>G|||||606|,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000449900|nonsense_mediated_decay|4/6|n.81+7157A>G|||||| 22 30221120 . C T . . ANN=T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|4/20|c.367G>A|p.Val123Ile|481/2793|367/2274|123/757||,T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|5/21|c.367G>A|p.Val123Ile|545/2823|367/2274|123/757||,T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|3/19|c.208G>A|p.Val70Ile|322/2291|208/2046|70/681||,T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000431535|protein_coding|5/8|c.367G>A|p.Val123Ile|520/873|367/720|123/239||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000412689|protein_coding|3/5|c.367G>A|p.Val123Ile|384/742|367/725|123/240||WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|5/21|n.*377G>A|||||2437|,T|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000453160|nonsense_mediated_decay|5/5|n.*343G>A|||||8467|,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000460313|retained_intron||n.*568G>A|||||30|,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000477074|retained_intron||n.*554G>A|||||83|,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000454854|nonsense_mediated_decay||n.*291G>A|||||563|,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000449900|nonsense_mediated_decay|4/6|n.81+7114G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|5/21|n.*377G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495967|processed_transcript|2/5|n.224G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000465667|retained_intron|5/6|n.509G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000463203|retained_intron|1/2|n.228G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495681|retained_intron|4/4|n.492G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000462454|retained_intron|2/2|n.463G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000453160|nonsense_mediated_decay|5/5|n.*343G>A|||||| 22 30221122 . C T . . ANN=T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|4/20|c.365G>A|p.Ser122Asn|479/2793|365/2274|122/757||,T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|5/21|c.365G>A|p.Ser122Asn|543/2823|365/2274|122/757||,T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|3/19|c.206G>A|p.Ser69Asn|320/2291|206/2046|69/681||,T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000431535|protein_coding|5/8|c.365G>A|p.Ser122Asn|518/873|365/720|122/239||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000412689|protein_coding|3/5|c.365G>A|p.Ser122Asn|382/742|365/725|122/240||WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|5/21|n.*375G>A|||||2435|,T|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000453160|nonsense_mediated_decay|5/5|n.*341G>A|||||8465|,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000460313|retained_intron||n.*568G>A|||||28|,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000477074|retained_intron||n.*554G>A|||||81|,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000454854|nonsense_mediated_decay||n.*291G>A|||||561|,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000449900|nonsense_mediated_decay|4/6|n.81+7112G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|5/21|n.*375G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495967|processed_transcript|2/5|n.222G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000465667|retained_intron|5/6|n.507G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000463203|retained_intron|1/2|n.226G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495681|retained_intron|4/4|n.490G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000462454|retained_intron|2/2|n.461G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000453160|nonsense_mediated_decay|5/5|n.*341G>A|||||| 22 30221125 . C T . . ANN=T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|4/20|c.362G>A|p.Arg121Gln|476/2793|362/2274|121/757||,T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|5/21|c.362G>A|p.Arg121Gln|540/2823|362/2274|121/757||,T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|3/19|c.203G>A|p.Arg68Gln|317/2291|203/2046|68/681||,T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000431535|protein_coding|5/8|c.362G>A|p.Arg121Gln|515/873|362/720|121/239||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000412689|protein_coding|3/5|c.362G>A|p.Arg121Gln|379/742|362/725|121/240||WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|5/21|n.*372G>A|||||2432|,T|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000453160|nonsense_mediated_decay|5/5|n.*338G>A|||||8462|,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000460313|retained_intron||n.*568G>A|||||25|,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000477074|retained_intron||n.*554G>A|||||78|,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000454854|nonsense_mediated_decay||n.*291G>A|||||558|,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000449900|nonsense_mediated_decay|4/6|n.81+7109G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|5/21|n.*372G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495967|processed_transcript|2/5|n.219G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000465667|retained_intron|5/6|n.504G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000463203|retained_intron|1/2|n.223G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495681|retained_intron|4/4|n.487G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000462454|retained_intron|2/2|n.458G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000453160|nonsense_mediated_decay|5/5|n.*338G>A|||||| 22 30221177 . C T . . ANN=T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|4/20|c.310G>A|p.Glu104Lys|424/2793|310/2274|104/757||,T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|5/21|c.310G>A|p.Glu104Lys|488/2823|310/2274|104/757||,T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|3/19|c.151G>A|p.Glu51Lys|265/2291|151/2046|51/681||,T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000431535|protein_coding|5/8|c.310G>A|p.Glu104Lys|463/873|310/720|104/239||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000412689|protein_coding|3/5|c.310G>A|p.Glu104Lys|327/742|310/725|104/240||WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|5/21|n.*320G>A|||||2380|,T|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000453160|nonsense_mediated_decay|5/5|n.*286G>A|||||8410|,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000477074|retained_intron||n.*554G>A|||||26|,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000454854|nonsense_mediated_decay||n.*291G>A|||||506|,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000449900|nonsense_mediated_decay|4/6|n.81+7057G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|5/21|n.*320G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495967|processed_transcript|2/5|n.167G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000465667|retained_intron|5/6|n.452G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000463203|retained_intron|1/2|n.171G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495681|retained_intron|4/4|n.435G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000462454|retained_intron|2/2|n.406G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000453160|nonsense_mediated_decay|5/5|n.*286G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000460313|retained_intron|5/5|n.541G>A|||||| 22 30221181 . G A . . ANN=A|synonymous_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|4/20|c.306C>T|p.Phe102Phe|420/2793|306/2274|102/757||,A|synonymous_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|5/21|c.306C>T|p.Phe102Phe|484/2823|306/2274|102/757||,A|synonymous_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|3/19|c.147C>T|p.Phe49Phe|261/2291|147/2046|49/681||,A|synonymous_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000431535|protein_coding|5/8|c.306C>T|p.Phe102Phe|459/873|306/720|102/239||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000412689|protein_coding|3/5|c.306C>T|p.Phe102Phe|323/742|306/725|102/240||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|5/21|n.*316C>T|||||2376|,A|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000453160|nonsense_mediated_decay|5/5|n.*282C>T|||||8406|,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000477074|retained_intron||n.*554C>T|||||22|,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000454854|nonsense_mediated_decay||n.*291C>T|||||502|,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000449900|nonsense_mediated_decay|4/6|n.81+7053C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|5/21|n.*316C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495967|processed_transcript|2/5|n.163C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000465667|retained_intron|5/6|n.448C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000463203|retained_intron|1/2|n.167C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495681|retained_intron|4/4|n.431C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000462454|retained_intron|2/2|n.402C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000453160|nonsense_mediated_decay|5/5|n.*282C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000460313|retained_intron|5/5|n.537C>T|||||| 22 30221201 . G A . . ANN=A|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|4/20|c.286C>T|p.Arg96Cys|400/2793|286/2274|96/757||,A|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|5/21|c.286C>T|p.Arg96Cys|464/2823|286/2274|96/757||,A|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|3/19|c.127C>T|p.Arg43Cys|241/2291|127/2046|43/681||,A|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000431535|protein_coding|5/8|c.286C>T|p.Arg96Cys|439/873|286/720|96/239||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000412689|protein_coding|3/5|c.286C>T|p.Arg96Cys|303/742|286/725|96/240||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|5/21|n.*296C>T|||||2356|,A|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000453160|nonsense_mediated_decay|5/5|n.*262C>T|||||8386|,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000477074|retained_intron||n.*554C>T|||||2|,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000454854|nonsense_mediated_decay||n.*291C>T|||||482|,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000449900|nonsense_mediated_decay|4/6|n.81+7033C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|5/21|n.*296C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495967|processed_transcript|2/5|n.143C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000465667|retained_intron|5/6|n.428C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000463203|retained_intron|1/2|n.147C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495681|retained_intron|4/4|n.411C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000462454|retained_intron|2/2|n.382C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000453160|nonsense_mediated_decay|5/5|n.*262C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000460313|retained_intron|5/5|n.517C>T|||||| 22 30221653 . G A . . ANN=A|synonymous_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|3/20|c.198C>T|p.Leu66Leu|312/2793|198/2274|66/757||,A|synonymous_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|4/21|c.198C>T|p.Leu66Leu|376/2823|198/2274|66/757||,A|synonymous_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000431535|protein_coding|4/8|c.198C>T|p.Leu66Leu|351/873|198/720|66/239||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000412689|protein_coding|2/5|c.198C>T|p.Leu66Leu|215/742|198/725|66/240||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|4/21|n.*208C>T|||||1904|,A|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000453160|nonsense_mediated_decay|4/5|n.*174C>T|||||7934|,A|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000463203|retained_intron||n.-1C>T|||||306|,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000454854|nonsense_mediated_decay||n.*291C>T|||||30|,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|2/18|c.82-407C>T||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000449900|nonsense_mediated_decay|4/6|n.81+6581C>T||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495967|processed_transcript|1/4|n.98-407C>T||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000462454|retained_intron|1/1|n.337-407C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|4/21|n.*208C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000465667|retained_intron|4/6|n.340C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495681|retained_intron|3/4|n.323C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000453160|nonsense_mediated_decay|4/5|n.*174C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000460313|retained_intron|4/5|n.429C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000477074|retained_intron|1/2|n.468C>T|||||| 22 30221712 . T C . . ANN=C|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|3/20|c.139A>G|p.Asn47Asp|253/2793|139/2274|47/757||,C|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|4/21|c.139A>G|p.Asn47Asp|317/2823|139/2274|47/757||,C|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000431535|protein_coding|4/8|c.139A>G|p.Asn47Asp|292/873|139/720|47/239||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000412689|protein_coding|2/5|c.139A>G|p.Asn47Asp|156/742|139/725|47/240||WARNING_TRANSCRIPT_INCOMPLETE,C|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|4/21|n.*149A>G|||||1845|,C|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000453160|nonsense_mediated_decay|4/5|n.*115A>G|||||7875|,C|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000454854|nonsense_mediated_decay|5/5|n.*149A>G|||||1845|,C|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000463203|retained_intron||n.-1A>G|||||365|,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|2/18|c.82-466A>G||||||,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000449900|nonsense_mediated_decay|4/6|n.81+6522A>G||||||,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495967|processed_transcript|1/4|n.98-466A>G||||||,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000462454|retained_intron|1/1|n.337-466A>G||||||,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|4/21|n.*149A>G||||||,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000465667|retained_intron|4/6|n.281A>G||||||,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495681|retained_intron|3/4|n.264A>G||||||,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000453160|nonsense_mediated_decay|4/5|n.*115A>G||||||,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000460313|retained_intron|4/5|n.370A>G||||||,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000477074|retained_intron|1/2|n.409A>G||||||,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000454854|nonsense_mediated_decay|5/5|n.*149A>G|||||| 22 30221725 . C T . . ANN=T|synonymous_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|3/20|c.126G>A|p.Pro42Pro|240/2793|126/2274|42/757||,T|synonymous_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|4/21|c.126G>A|p.Pro42Pro|304/2823|126/2274|42/757||,T|synonymous_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000431535|protein_coding|4/8|c.126G>A|p.Pro42Pro|279/873|126/720|42/239||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000412689|protein_coding|2/5|c.126G>A|p.Pro42Pro|143/742|126/725|42/240||WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|4/21|n.*136G>A|||||1832|,T|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000453160|nonsense_mediated_decay|4/5|n.*102G>A|||||7862|,T|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000454854|nonsense_mediated_decay|5/5|n.*136G>A|||||1832|,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000463203|retained_intron||n.-1G>A|||||378|,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|2/18|c.82-479G>A||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000449900|nonsense_mediated_decay|4/6|n.81+6509G>A||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495967|processed_transcript|1/4|n.98-479G>A||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000462454|retained_intron|1/1|n.337-479G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|4/21|n.*136G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000465667|retained_intron|4/6|n.268G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495681|retained_intron|3/4|n.251G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000453160|nonsense_mediated_decay|4/5|n.*102G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000460313|retained_intron|4/5|n.357G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000477074|retained_intron|1/2|n.396G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000454854|nonsense_mediated_decay|5/5|n.*136G>A|||||| 22 30221816 . G A . . ANN=A|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000463203|retained_intron||n.-1C>T|||||469|,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|2/19|c.82-47C>T||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|3/20|n.*92-47C>T||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|3/20|c.82-47C>T||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|2/18|c.82-570C>T||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000449900|nonsense_mediated_decay|4/6|n.81+6418C>T||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000431535|protein_coding|3/7|c.82-47C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495967|processed_transcript|1/4|n.98-570C>T||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000412689|protein_coding|1/4|c.82-47C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000465667|retained_intron|3/5|n.224-47C>T||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495681|retained_intron|2/3|n.207-47C>T||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000462454|retained_intron|1/1|n.337-570C>T||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000453160|nonsense_mediated_decay|3/4|n.*58-47C>T||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000460313|retained_intron|3/4|n.313-47C>T||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000454854|nonsense_mediated_decay|4/4|n.*92-47C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000477074|retained_intron|1/2|n.305C>T|||||| 22 30228227 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|2/19|c.81+7C>T||||||,A|splice_region_variant&intron_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|2/20|n.81+7C>T||||||,A|splice_region_variant&intron_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|3/20|c.81+7C>T||||||,A|splice_region_variant&intron_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|2/18|c.81+7C>T||||||,A|splice_region_variant&intron_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000449900|nonsense_mediated_decay|4/6|n.81+7C>T||||||,A|splice_region_variant&intron_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000431535|protein_coding|3/7|c.81+7C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|splice_region_variant&intron_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000412689|protein_coding|1/4|c.81+7C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|splice_region_variant&intron_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000465667|retained_intron|3/5|n.223+7C>T||||||,A|splice_region_variant&intron_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000462454|retained_intron|1/1|n.336+7C>T||||||,A|splice_region_variant&intron_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000460313|retained_intron|3/4|n.312+7C>T||||||,A|splice_region_variant&intron_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000454854|nonsense_mediated_decay|3/4|n.81+7C>T||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000492821|retained_intron||n.*562C>T|||||1848|,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495967|processed_transcript|1/4|n.97+5940C>T||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495681|retained_intron|2/3|n.206+2204C>T||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000453160|nonsense_mediated_decay|3/4|n.*57+1303C>T|||||| 22 30228231 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|2/19|c.81+3G>A||||||,T|splice_region_variant&intron_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|2/20|n.81+3G>A||||||,T|splice_region_variant&intron_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|3/20|c.81+3G>A||||||,T|splice_region_variant&intron_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|2/18|c.81+3G>A||||||,T|splice_region_variant&intron_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000449900|nonsense_mediated_decay|4/6|n.81+3G>A||||||,T|splice_region_variant&intron_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000431535|protein_coding|3/7|c.81+3G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|splice_region_variant&intron_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000412689|protein_coding|1/4|c.81+3G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|splice_region_variant&intron_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000465667|retained_intron|3/5|n.223+3G>A||||||,T|splice_region_variant&intron_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000462454|retained_intron|1/1|n.336+3G>A||||||,T|splice_region_variant&intron_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000460313|retained_intron|3/4|n.312+3G>A||||||,T|splice_region_variant&intron_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000454854|nonsense_mediated_decay|3/4|n.81+3G>A||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000492821|retained_intron||n.*562G>A|||||1844|,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495967|processed_transcript|1/4|n.97+5936G>A||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495681|retained_intron|2/3|n.206+2200G>A||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000453160|nonsense_mediated_decay|3/4|n.*57+1299G>A|||||| 22 30228238 . G A . . ANN=A|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|2/20|c.77C>T|p.Ala26Val|191/2793|77/2274|26/757||,A|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|3/21|c.77C>T|p.Ala26Val|255/2823|77/2274|26/757||,A|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|2/19|c.77C>T|p.Ala26Val|191/2291|77/2046|26/681||,A|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000431535|protein_coding|3/8|c.77C>T|p.Ala26Val|230/873|77/720|26/239||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000412689|protein_coding|1/5|c.77C>T|p.Ala26Val|94/742|77/725|26/240||WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000492821|retained_intron||n.*562C>T|||||1837|,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495967|processed_transcript|1/4|n.97+5929C>T||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495681|retained_intron|2/3|n.206+2193C>T||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000453160|nonsense_mediated_decay|3/4|n.*57+1292C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|2/21|n.77C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000449900|nonsense_mediated_decay|4/7|n.77C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000465667|retained_intron|3/6|n.219C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000462454|retained_intron|1/2|n.332C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000460313|retained_intron|3/5|n.308C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000454854|nonsense_mediated_decay|3/5|n.77C>T|||||| 22 30228261 . T C . . ANN=C|synonymous_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|2/20|c.54A>G|p.Thr18Thr|168/2793|54/2274|18/757||,C|synonymous_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|3/21|c.54A>G|p.Thr18Thr|232/2823|54/2274|18/757||,C|synonymous_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|2/19|c.54A>G|p.Thr18Thr|168/2291|54/2046|18/681||,C|synonymous_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000431535|protein_coding|3/8|c.54A>G|p.Thr18Thr|207/873|54/720|18/239||WARNING_TRANSCRIPT_NO_STOP_CODON,C|synonymous_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000412689|protein_coding|1/5|c.54A>G|p.Thr18Thr|71/742|54/725|18/240||WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000492821|retained_intron||n.*562A>G|||||1814|,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495967|processed_transcript|1/4|n.97+5906A>G||||||,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495681|retained_intron|2/3|n.206+2170A>G||||||,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000453160|nonsense_mediated_decay|3/4|n.*57+1269A>G||||||,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|2/21|n.54A>G||||||,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000449900|nonsense_mediated_decay|4/7|n.54A>G||||||,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000465667|retained_intron|3/6|n.196A>G||||||,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000462454|retained_intron|1/2|n.309A>G||||||,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000460313|retained_intron|3/5|n.285A>G||||||,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000454854|nonsense_mediated_decay|3/5|n.54A>G|||||| 22 30228268 . G A . . ANN=A|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|2/20|c.47C>T|p.Pro16Leu|161/2793|47/2274|16/757||,A|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|3/21|c.47C>T|p.Pro16Leu|225/2823|47/2274|16/757||,A|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|2/19|c.47C>T|p.Pro16Leu|161/2291|47/2046|16/681||,A|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000431535|protein_coding|3/8|c.47C>T|p.Pro16Leu|200/873|47/720|16/239||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000412689|protein_coding|1/5|c.47C>T|p.Pro16Leu|64/742|47/725|16/240||WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000492821|retained_intron||n.*562C>T|||||1807|,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495967|processed_transcript|1/4|n.97+5899C>T||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495681|retained_intron|2/3|n.206+2163C>T||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000453160|nonsense_mediated_decay|3/4|n.*57+1262C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|2/21|n.47C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000449900|nonsense_mediated_decay|4/7|n.47C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000465667|retained_intron|3/6|n.189C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000462454|retained_intron|1/2|n.302C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000460313|retained_intron|3/5|n.278C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000454854|nonsense_mediated_decay|3/5|n.47C>T|||||| 22 30367014 . A T . . ANN=T|5_prime_UTR_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|3/20|c.-35A>T|||||35|,T|5_prime_UTR_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|3/20|c.-35A>T|||||35|,T|5_prime_UTR_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000445401|protein_coding|2/6|c.-35A>T|||||35|WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|3/19|c.-35A>T|||||35|,T|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding||c.-10A>T|||||26|,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|2/18|c.-405-7417A>T||||||,T|non_coding_exon_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000495098|processed_transcript|3/5|n.284A>T||||||,T|non_coding_exon_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000415511|processed_transcript|3/6|n.194A>T|||||| 22 30367081 . AAAAC A . . ANN=|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|3/19|c.3+34_3+37delCAAA||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|3/19|c.3+34_3+37delCAAA||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000495098|processed_transcript|3/4|n.321+34_321+37delCAAA||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000445401|protein_coding|2/5|c.3+34_3+37delCAAA||||||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|2/18|c.-405-7346_-405-7343delCAAA||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|3/18|c.3+34_3+37delCAAA||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000415511|processed_transcript|3/5|n.231+34_231+37delCAAA||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|1/17|c.3+34_3+37delCAAA||||||INFO_REALIGN_3_PRIME 22 30367085 . C A . . ANN=A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|3/19|c.3+34C>A||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|3/19|c.3+34C>A||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000495098|processed_transcript|3/4|n.321+34C>A||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000445401|protein_coding|2/5|c.3+34C>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|2/18|c.-405-7346C>A||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|3/18|c.3+34C>A||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000415511|processed_transcript|3/5|n.231+34C>A||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|1/17|c.3+34C>A|||||| 22 30367094 . CTG C . . ANN=|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|3/19|c.3+47_3+48delGT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|3/19|c.3+47_3+48delGT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000495098|processed_transcript|3/4|n.321+47_321+48delGT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000445401|protein_coding|2/5|c.3+47_3+48delGT||||||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|2/18|c.-405-7333_-405-7332delGT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|3/18|c.3+47_3+48delGT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000415511|processed_transcript|3/5|n.231+47_231+48delGT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|1/17|c.3+47_3+48delGT||||||INFO_REALIGN_3_PRIME 22 30374414 . G A . . ANN=A|splice_region_variant&non_coding_exon_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000495098|processed_transcript|4/5|n.322G>A||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|3/19|c.4-17G>A||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|3/19|c.4-17G>A||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000445401|protein_coding|2/5|c.4-17G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|2/18|c.-405-17G>A||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|3/18|c.4-17G>A||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000415511|processed_transcript|3/5|n.232-17G>A||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|1/17|c.4-17G>A||||||,A|non_coding_exon_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000480776|retained_intron|1/2|n.339G>A|||||| 22 30374555 . A G . . ANN=G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|4/19|c.93+35A>G||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|4/19|c.93+35A>G||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000495098|processed_transcript|4/4|n.428+35A>G||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000445401|protein_coding|3/5|c.93+35A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|3/18|c.-316+35A>G||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|4/18|c.93+35A>G||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000415511|processed_transcript|4/5|n.321+35A>G||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|2/17|c.93+35A>G||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000480776|retained_intron|1/1|n.445+35A>G|||||| 22 30374920 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|4/19|c.94-5C>T||||||,T|splice_region_variant&intron_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|4/19|c.94-5C>T||||||,T|splice_region_variant&intron_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000495098|processed_transcript|4/4|n.429-5C>T||||||,T|splice_region_variant&intron_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000445401|protein_coding|3/5|c.94-5C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|splice_region_variant&intron_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|3/18|c.-315-5C>T||||||,T|splice_region_variant&intron_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|4/18|c.94-5C>T||||||,T|splice_region_variant&intron_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000415511|processed_transcript|4/5|n.322-5C>T||||||,T|splice_region_variant&intron_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|2/17|c.94-5C>T||||||,T|splice_region_variant&intron_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000480776|retained_intron|1/1|n.446-5C>T|||||| 22 30374956 . CAG C . . ANN=|frameshift_variant|HIGH|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|5/20|c.128_129delAG|p.Glu43fs|470/6018|128/3597|43/1198||INFO_REALIGN_3_PRIME,|frameshift_variant|HIGH|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|5/20|c.128_129delAG|p.Glu43fs|456/8906|128/3513|43/1170||INFO_REALIGN_3_PRIME,|frameshift_variant|HIGH|MTMR3|ENSG00000100330|transcript|ENST00000445401|protein_coding|4/6|c.128_129delAG|p.Glu43fs|375/665|128/418|43/138||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME,|frameshift_variant|HIGH|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|5/19|c.128_129delAG|p.Glu43fs|412/4464|128/3486|43/1161||INFO_REALIGN_3_PRIME,|frameshift_variant|HIGH|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|3/18|c.128_129delAG|p.Glu43fs|137/3758|128/3513|43/1170||INFO_REALIGN_3_PRIME,|5_prime_UTR_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|4/19|c.-281_-280delAG|||||12648|INFO_REALIGN_3_PRIME,|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000495098|processed_transcript||n.461_*461delAG|||||0|,|non_coding_exon_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000415511|processed_transcript|5/6|n.356_357delAG||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000480776|retained_intron|2/2|n.480_481delAG||||||INFO_REALIGN_3_PRIME;LOF=(MTMR3|ENSG00000100330|12|0.08) 22 30374960 . G A . . ANN=A|synonymous_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|5/20|c.129G>A|p.Glu43Glu|471/6018|129/3597|43/1198||,A|synonymous_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|5/20|c.129G>A|p.Glu43Glu|457/8906|129/3513|43/1170||,A|synonymous_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000445401|protein_coding|4/6|c.129G>A|p.Glu43Glu|376/665|129/418|43/138||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|5/19|c.129G>A|p.Glu43Glu|413/4464|129/3486|43/1161||,A|synonymous_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|3/18|c.129G>A|p.Glu43Glu|138/3758|129/3513|43/1170||,A|5_prime_UTR_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|4/19|c.-280G>A|||||12648|,A|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000495098|processed_transcript||n.*461G>A|||||3|,A|non_coding_exon_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000415511|processed_transcript|5/6|n.357G>A||||||,A|non_coding_exon_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000480776|retained_intron|2/2|n.481G>A|||||| 22 30374975 . C T . . ANN=T|synonymous_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|5/20|c.144C>T|p.Ala48Ala|486/6018|144/3597|48/1198||,T|synonymous_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|5/20|c.144C>T|p.Ala48Ala|472/8906|144/3513|48/1170||,T|synonymous_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000445401|protein_coding|4/6|c.144C>T|p.Ala48Ala|391/665|144/418|48/138||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|5/19|c.144C>T|p.Ala48Ala|428/4464|144/3486|48/1161||,T|synonymous_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|3/18|c.144C>T|p.Ala48Ala|153/3758|144/3513|48/1170||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|4/19|c.-265C>T||||||,T|5_prime_UTR_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|4/19|c.-265C>T|||||12633|,T|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000495098|processed_transcript||n.*461C>T|||||18|,T|non_coding_exon_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000415511|processed_transcript|5/6|n.372C>T||||||,T|non_coding_exon_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000480776|retained_intron|2/2|n.496C>T|||||| 22 30384572 . G A . . ANN=A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|6/19|c.293+21G>A||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|6/19|c.293+21G>A||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000445401|protein_coding|5/5|c.293+21G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|5/18|c.-116+21G>A||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|6/18|c.293+21G>A||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000415511|processed_transcript|5/5|n.439-2921G>A||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|4/17|c.293+21G>A|||||| 22 30384599 . T G . . ANN=G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|6/19|c.293+48T>G||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|6/19|c.293+48T>G||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000445401|protein_coding|5/5|c.293+48T>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|5/18|c.-116+48T>G||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|6/18|c.293+48T>G||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000415511|processed_transcript|5/5|n.439-2894T>G||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|4/17|c.293+48T>G|||||| 22 30387470 . A G . . ANN=G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|6/19|c.294-23A>G||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|6/19|c.294-23A>G||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000445401|protein_coding|5/5|c.294-23A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|5/18|c.-115-23A>G||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|6/18|c.294-23A>G||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000415511|processed_transcript|5/5|n.439-23A>G||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|4/17|c.294-23A>G|||||| 22 30394731 . G GT . . ANN=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|7/19|c.461-16dupT||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|7/19|c.461-16dupT||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|6/18|c.53-16dupT||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|7/18|c.461-16dupT||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|5/17|c.461-16dupT||||||INFO_REALIGN_3_PRIME 22 30398858 . C G . . ANN=G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|11/20|c.558-11C>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|9/20|c.558-11C>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|16/20|c.558-11C>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|14/20|c.558-11C>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|10/20|c.558-11C>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|12/20|c.558-11C>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|15/20|c.558-11C>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|13/20|c.558-11C>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|8/20|c.558-11C>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|11/19|c.558-11C>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|9/19|c.558-11C>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|16/19|c.558-11C>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|14/19|c.558-11C>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|10/19|c.558-11C>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|12/19|c.558-11C>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|15/19|c.558-11C>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|13/19|c.558-11C>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|8/19|c.558-11C>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|9/18|c.558-11C>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|7/18|c.558-11C>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|14/18|c.558-11C>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|12/18|c.558-11C>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|8/18|c.558-11C>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|10/18|c.558-11C>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|13/18|c.558-11C>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|11/18|c.558-11C>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|6/18|c.558-11C>G||||||,G|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000487907|processed_transcript||n.-1C>G|||||1026|,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|8/19|c.558-11C>G||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|8/19|c.558-11C>G||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|7/18|c.150-11C>G||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|8/18|c.558-11C>G||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|6/17|c.558-11C>G|||||| 22 30398922 . A C . . ANN=C|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|9/20|c.611A>C|p.Lys204Thr|953/6018|611/3597|204/1198||,C|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|9/20|c.611A>C|p.Lys204Thr|939/8906|611/3513|204/1170||,C|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|8/19|c.203A>C|p.Lys68Thr|823/5866|203/3189|68/1062||,C|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|9/19|c.611A>C|p.Lys204Thr|895/4464|611/3486|204/1161||,C|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|7/18|c.611A>C|p.Lys204Thr|620/3758|611/3513|204/1170||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|11/20|c.611A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|9/20|c.611A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|16/20|c.611A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|14/20|c.611A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|10/20|c.611A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|12/20|c.611A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|15/20|c.611A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|13/20|c.611A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|8/20|c.611A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|11/19|c.611A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|9/19|c.611A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|16/19|c.611A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|14/19|c.611A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|10/19|c.611A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|12/19|c.611A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|15/19|c.611A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|13/19|c.611A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|8/19|c.611A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|9/18|c.611A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|7/18|c.611A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|14/18|c.611A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|12/18|c.611A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|8/18|c.611A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|10/18|c.611A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|13/18|c.611A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|11/18|c.611A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|6/18|c.611A>C||||||,C|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000487907|processed_transcript||n.-1A>C|||||962| 22 30398935 . T C . . ANN=C|synonymous_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|9/20|c.624T>C|p.Ser208Ser|966/6018|624/3597|208/1198||,C|synonymous_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|9/20|c.624T>C|p.Ser208Ser|952/8906|624/3513|208/1170||,C|synonymous_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|8/19|c.216T>C|p.Ser72Ser|836/5866|216/3189|72/1062||,C|synonymous_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|9/19|c.624T>C|p.Ser208Ser|908/4464|624/3486|208/1161||,C|synonymous_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|7/18|c.624T>C|p.Ser208Ser|633/3758|624/3513|208/1170||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|11/20|c.624T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|9/20|c.624T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|16/20|c.624T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|14/20|c.624T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|10/20|c.624T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|12/20|c.624T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|15/20|c.624T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|13/20|c.624T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|8/20|c.624T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|11/19|c.624T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|9/19|c.624T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|16/19|c.624T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|14/19|c.624T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|10/19|c.624T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|12/19|c.624T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|15/19|c.624T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|13/19|c.624T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|8/19|c.624T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|9/18|c.624T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|7/18|c.624T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|14/18|c.624T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|12/18|c.624T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|8/18|c.624T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|10/18|c.624T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|13/18|c.624T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|11/18|c.624T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|6/18|c.624T>C||||||,C|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000487907|processed_transcript||n.-1T>C|||||949| 22 30399000 . A G . . ANN=G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|11/20|c.671+18A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|9/20|c.671+18A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|16/20|c.671+18A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|14/20|c.671+18A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|10/20|c.671+18A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|12/20|c.671+18A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|15/20|c.671+18A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|13/20|c.671+18A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|8/20|c.671+18A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|11/19|c.671+18A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|9/19|c.671+18A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|16/19|c.671+18A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|14/19|c.671+18A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|10/19|c.671+18A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|12/19|c.671+18A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|15/19|c.671+18A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|13/19|c.671+18A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|8/19|c.671+18A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|9/18|c.671+18A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|7/18|c.671+18A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|14/18|c.671+18A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|12/18|c.671+18A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|8/18|c.671+18A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|10/18|c.671+18A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|13/18|c.671+18A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|11/18|c.671+18A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|6/18|c.671+18A>G||||||,G|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000487907|processed_transcript||n.-1A>G|||||884|,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|9/19|c.671+18A>G||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|9/19|c.671+18A>G||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|8/18|c.263+18A>G||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|9/18|c.671+18A>G||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|7/17|c.671+18A>G|||||| 22 30403307 . C T . . ANN=T|splice_region_variant&synonymous_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|10/20|c.876C>T|p.Phe292Phe|1218/6018|876/3597|292/1198||,T|splice_region_variant&synonymous_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|10/20|c.876C>T|p.Phe292Phe|1204/8906|876/3513|292/1170||,T|splice_region_variant&synonymous_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|9/19|c.468C>T|p.Phe156Phe|1088/5866|468/3189|156/1062||,T|splice_region_variant&synonymous_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|10/19|c.876C>T|p.Phe292Phe|1160/4464|876/3486|292/1161||,T|splice_region_variant&synonymous_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|8/18|c.876C>T|p.Phe292Phe|885/3758|876/3513|292/1170||,T|splice_region_variant&non_coding_exon_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000487907|processed_transcript|2/3|n.332C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|11/20|c.876C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|9/20|c.876C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|16/20|c.876C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|14/20|c.876C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|10/20|c.876C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|12/20|c.876C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|15/20|c.876C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|13/20|c.876C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|8/20|c.876C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|11/19|c.876C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|9/19|c.876C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|16/19|c.876C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|14/19|c.876C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|10/19|c.876C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|12/19|c.876C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|15/19|c.876C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|13/19|c.876C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|8/19|c.876C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|9/18|c.876C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|7/18|c.876C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|14/18|c.876C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|12/18|c.876C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|8/18|c.876C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|10/18|c.876C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|13/18|c.876C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|11/18|c.876C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|6/18|c.876C>T||||||,T|downstream_gene_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense||n.*902G>A|||||1424| 22 30403357 . A G . . ANN=G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|11/20|c.877+49A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|9/20|c.877+49A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|16/20|c.877+49A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|14/20|c.877+49A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|10/20|c.877+49A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|12/20|c.877+49A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|15/20|c.877+49A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|13/20|c.877+49A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|8/20|c.877+49A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|11/19|c.877+49A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|9/19|c.877+49A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|16/19|c.877+49A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|14/19|c.877+49A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|10/19|c.877+49A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|12/19|c.877+49A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|15/19|c.877+49A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|13/19|c.877+49A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|8/19|c.877+49A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|9/18|c.877+49A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|7/18|c.877+49A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|14/18|c.877+49A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|12/18|c.877+49A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|8/18|c.877+49A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|10/18|c.877+49A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|13/18|c.877+49A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|11/18|c.877+49A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|6/18|c.877+49A>G||||||,G|downstream_gene_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense||n.*902T>C|||||1374|,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|10/19|c.877+49A>G||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|10/19|c.877+49A>G||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|9/18|c.469+49A>G||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|10/18|c.877+49A>G||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|8/17|c.877+49A>G||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000487907|processed_transcript|2/2|n.333+49A>G|||||| 22 30403909 . T C . . ANN=C|synonymous_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|11/20|c.897T>C|p.Ala299Ala|1239/6018|897/3597|299/1198||,C|synonymous_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|11/20|c.897T>C|p.Ala299Ala|1225/8906|897/3513|299/1170||,C|synonymous_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|10/19|c.489T>C|p.Ala163Ala|1109/5866|489/3189|163/1062||,C|synonymous_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|11/19|c.897T>C|p.Ala299Ala|1181/4464|897/3486|299/1161||,C|synonymous_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|9/18|c.897T>C|p.Ala299Ala|906/3758|897/3513|299/1170||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|11/20|c.897T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|9/20|c.897T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|16/20|c.897T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|14/20|c.897T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|10/20|c.897T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|12/20|c.897T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|15/20|c.897T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|13/20|c.897T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|8/20|c.897T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|11/19|c.897T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|9/19|c.897T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|16/19|c.897T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|14/19|c.897T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|10/19|c.897T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|12/19|c.897T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|15/19|c.897T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|13/19|c.897T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|8/19|c.897T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|9/18|c.897T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|7/18|c.897T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|14/18|c.897T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|12/18|c.897T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|8/18|c.897T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|10/18|c.897T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|13/18|c.897T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|11/18|c.897T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|6/18|c.897T>C||||||,C|downstream_gene_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense||n.*902A>G|||||822|,C|non_coding_exon_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000487907|processed_transcript|3/3|n.353T>C|||||| 22 30403941 . A G . . ANN=G|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|11/20|c.929A>G|p.Gln310Arg|1271/6018|929/3597|310/1198||,G|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|11/20|c.929A>G|p.Gln310Arg|1257/8906|929/3513|310/1170||,G|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|10/19|c.521A>G|p.Gln174Arg|1141/5866|521/3189|174/1062||,G|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|11/19|c.929A>G|p.Gln310Arg|1213/4464|929/3486|310/1161||,G|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|9/18|c.929A>G|p.Gln310Arg|938/3758|929/3513|310/1170||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|11/20|c.929A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|9/20|c.929A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|16/20|c.929A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|14/20|c.929A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|10/20|c.929A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|12/20|c.929A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|15/20|c.929A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|13/20|c.929A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|8/20|c.929A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|11/19|c.929A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|9/19|c.929A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|16/19|c.929A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|14/19|c.929A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|10/19|c.929A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|12/19|c.929A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|15/19|c.929A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|13/19|c.929A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|8/19|c.929A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|9/18|c.929A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|7/18|c.929A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|14/18|c.929A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|12/18|c.929A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|8/18|c.929A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|10/18|c.929A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|13/18|c.929A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|11/18|c.929A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|6/18|c.929A>G||||||,G|downstream_gene_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense||n.*902T>C|||||790|,G|non_coding_exon_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000487907|processed_transcript|3/3|n.385A>G|||||| 22 30403996 . C T . . ANN=T|synonymous_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|11/20|c.984C>T|p.Ala328Ala|1326/6018|984/3597|328/1198||,T|synonymous_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|11/20|c.984C>T|p.Ala328Ala|1312/8906|984/3513|328/1170||,T|synonymous_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|10/19|c.576C>T|p.Ala192Ala|1196/5866|576/3189|192/1062||,T|synonymous_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|11/19|c.984C>T|p.Ala328Ala|1268/4464|984/3486|328/1161||,T|synonymous_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|9/18|c.984C>T|p.Ala328Ala|993/3758|984/3513|328/1170||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|11/20|c.984C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|9/20|c.984C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|16/20|c.984C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|14/20|c.984C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|10/20|c.984C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|12/20|c.984C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|15/20|c.984C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|13/20|c.984C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|8/20|c.984C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|region_of_interest:Substrate_binding|ENST00000401950|protein_coding|11/20|c.984C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|11/19|c.984C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|9/19|c.984C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|16/19|c.984C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|14/19|c.984C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|10/19|c.984C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|12/19|c.984C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|15/19|c.984C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|13/19|c.984C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|8/19|c.984C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|region_of_interest:Substrate_binding|ENST00000351488|protein_coding|11/19|c.984C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|9/18|c.984C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|7/18|c.984C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|14/18|c.984C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|12/18|c.984C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|8/18|c.984C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|10/18|c.984C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|13/18|c.984C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|11/18|c.984C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|6/18|c.984C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|region_of_interest:Substrate_binding|ENST00000406629|protein_coding|9/18|c.984C>T||||||,T|downstream_gene_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense||n.*902G>A|||||735|,T|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000487907|processed_transcript||n.*408C>T|||||32| 22 30405151 . T C . . ANN=C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|11/20|c.1121+33T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|9/20|c.1121+33T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|16/20|c.1121+33T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|14/20|c.1121+33T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|10/20|c.1121+33T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|12/20|c.1121+33T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|15/20|c.1121+33T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|13/20|c.1121+33T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|8/20|c.1121+33T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|11/19|c.1121+33T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|9/19|c.1121+33T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|16/19|c.1121+33T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|14/19|c.1121+33T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|10/19|c.1121+33T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|12/19|c.1121+33T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|15/19|c.1121+33T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|13/19|c.1121+33T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|8/19|c.1121+33T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|9/18|c.1121+33T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|7/18|c.1121+33T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|14/18|c.1121+33T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|12/18|c.1121+33T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|8/18|c.1121+33T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|10/18|c.1121+33T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|13/18|c.1121+33T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|11/18|c.1121+33T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|6/18|c.1121+33T>C||||||,C|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000487907|processed_transcript||n.*408T>C|||||1187|,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|12/19|c.1121+33T>C||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|12/19|c.1121+33T>C||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|11/18|c.713+33T>C||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|12/18|c.1121+33T>C||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|10/17|c.1121+33T>C||||||,C|non_coding_exon_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense|5/5|n.482A>G|||||| 22 30408316 . T TA . . ANN=A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|11/20|c.1122-41_1122-40insA||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|9/20|c.1122-41_1122-40insA||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|16/20|c.1122-41_1122-40insA||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|14/20|c.1122-41_1122-40insA||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|10/20|c.1122-41_1122-40insA||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|12/20|c.1122-41_1122-40insA||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|15/20|c.1122-41_1122-40insA||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|13/20|c.1122-41_1122-40insA||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|8/20|c.1122-41_1122-40insA||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|11/19|c.1122-41_1122-40insA||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|9/19|c.1122-41_1122-40insA||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|16/19|c.1122-41_1122-40insA||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|14/19|c.1122-41_1122-40insA||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|10/19|c.1122-41_1122-40insA||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|12/19|c.1122-41_1122-40insA||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|15/19|c.1122-41_1122-40insA||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|13/19|c.1122-41_1122-40insA||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|8/19|c.1122-41_1122-40insA||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|9/18|c.1122-41_1122-40insA||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|7/18|c.1122-41_1122-40insA||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|14/18|c.1122-41_1122-40insA||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|12/18|c.1122-41_1122-40insA||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|8/18|c.1122-41_1122-40insA||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|10/18|c.1122-41_1122-40insA||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|13/18|c.1122-41_1122-40insA||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|11/18|c.1122-41_1122-40insA||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|6/18|c.1122-41_1122-40insA||||||,A|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000487907|processed_transcript||n.*408_*408insA|||||4353|,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|12/19|c.1122-34dupA||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense|4/4|n.448-3132dupT||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|12/19|c.1122-34dupA||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|11/18|c.714-34dupA||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|12/18|c.1122-34dupA||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|10/17|c.1122-34dupA||||||INFO_REALIGN_3_PRIME 22 30408427 . G A . . ANN=A|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|13/20|c.1192G>A|p.Val398Ile|1534/6018|1192/3597|398/1198||,A|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|13/20|c.1192G>A|p.Val398Ile|1520/8906|1192/3513|398/1170||,A|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|12/19|c.784G>A|p.Val262Ile|1404/5866|784/3189|262/1062||,A|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|13/19|c.1192G>A|p.Val398Ile|1476/4464|1192/3486|398/1161||,A|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|11/18|c.1192G>A|p.Val398Ile|1201/3758|1192/3513|398/1170||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|11/20|c.1192G>A||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|9/20|c.1192G>A||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|16/20|c.1192G>A||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|14/20|c.1192G>A||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|10/20|c.1192G>A||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|12/20|c.1192G>A||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|15/20|c.1192G>A||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|13/20|c.1192G>A||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|8/20|c.1192G>A||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|11/19|c.1192G>A||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|9/19|c.1192G>A||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|16/19|c.1192G>A||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|14/19|c.1192G>A||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|10/19|c.1192G>A||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|12/19|c.1192G>A||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|15/19|c.1192G>A||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|13/19|c.1192G>A||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|8/19|c.1192G>A||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|9/18|c.1192G>A||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|7/18|c.1192G>A||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|14/18|c.1192G>A||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|12/18|c.1192G>A||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|8/18|c.1192G>A||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|10/18|c.1192G>A||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|13/18|c.1192G>A||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|11/18|c.1192G>A||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|6/18|c.1192G>A||||||,A|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000487907|processed_transcript||n.*408G>A|||||4463|,A|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense|4/4|n.448-3242C>T|||||| 22 30409297 . G T . . ANN=T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|11/20|c.1318-48G>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|9/20|c.1318-48G>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|16/20|c.1318-48G>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|14/20|c.1318-48G>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|10/20|c.1318-48G>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|12/20|c.1318-48G>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|15/20|c.1318-48G>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|13/20|c.1318-48G>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|8/20|c.1318-48G>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|11/19|c.1318-48G>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|9/19|c.1318-48G>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|16/19|c.1318-48G>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|14/19|c.1318-48G>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|10/19|c.1318-48G>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|12/19|c.1318-48G>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|15/19|c.1318-48G>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|13/19|c.1318-48G>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|8/19|c.1318-48G>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|9/18|c.1318-48G>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|7/18|c.1318-48G>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|14/18|c.1318-48G>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|12/18|c.1318-48G>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|8/18|c.1318-48G>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|10/18|c.1318-48G>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|13/18|c.1318-48G>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|11/18|c.1318-48G>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|6/18|c.1318-48G>T||||||,T|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000492087|retained_intron||n.-1G>T|||||4375|,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|13/19|c.1318-48G>T||||||,T|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense|4/4|n.448-4112C>A||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|13/19|c.1318-48G>T||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|12/18|c.910-48G>T||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|13/18|c.1318-48G>T||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|11/17|c.1318-48G>T|||||| 22 30409367 . T C . . ANN=C|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|14/20|c.1340T>C|p.Met447Thr|1682/6018|1340/3597|447/1198||,C|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|14/20|c.1340T>C|p.Met447Thr|1668/8906|1340/3513|447/1170||,C|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|13/19|c.932T>C|p.Met311Thr|1552/5866|932/3189|311/1062||,C|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|14/19|c.1340T>C|p.Met447Thr|1624/4464|1340/3486|447/1161||,C|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|12/18|c.1340T>C|p.Met447Thr|1349/3758|1340/3513|447/1170||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|11/20|c.1340T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|9/20|c.1340T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|16/20|c.1340T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|14/20|c.1340T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|10/20|c.1340T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|12/20|c.1340T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|15/20|c.1340T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|13/20|c.1340T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|8/20|c.1340T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|11/19|c.1340T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|9/19|c.1340T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|16/19|c.1340T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|14/19|c.1340T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|10/19|c.1340T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|12/19|c.1340T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|15/19|c.1340T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|13/19|c.1340T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|8/19|c.1340T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|9/18|c.1340T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|7/18|c.1340T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|14/18|c.1340T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|12/18|c.1340T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|8/18|c.1340T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|10/18|c.1340T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|13/18|c.1340T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|11/18|c.1340T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|6/18|c.1340T>C||||||,C|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000492087|retained_intron||n.-1T>C|||||4305|,C|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense|4/4|n.448-4182A>G|||||| 22 30409523 . C T . . ANN=T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|14/20|c.1496C>T|p.Ala499Val|1838/6018|1496/3597|499/1198||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|14/20|c.1496C>T|p.Ala499Val|1824/8906|1496/3513|499/1170||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|13/19|c.1088C>T|p.Ala363Val|1708/5866|1088/3189|363/1062||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|14/19|c.1496C>T|p.Ala499Val|1780/4464|1496/3486|499/1161||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|12/18|c.1496C>T|p.Ala499Val|1505/3758|1496/3513|499/1170||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|11/20|c.1496C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|9/20|c.1496C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|16/20|c.1496C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|14/20|c.1496C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|10/20|c.1496C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|12/20|c.1496C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|15/20|c.1496C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|13/20|c.1496C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|8/20|c.1496C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|11/19|c.1496C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|9/19|c.1496C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|16/19|c.1496C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|14/19|c.1496C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|10/19|c.1496C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|12/19|c.1496C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|15/19|c.1496C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|13/19|c.1496C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|8/19|c.1496C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|9/18|c.1496C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|7/18|c.1496C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|14/18|c.1496C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|12/18|c.1496C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|8/18|c.1496C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|10/18|c.1496C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|13/18|c.1496C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|11/18|c.1496C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|6/18|c.1496C>T||||||,T|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000492087|retained_intron||n.-1C>T|||||4149|,T|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense|4/4|n.448-4338G>A|||||| 22 30412469 . A C . . ANN=C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|11/20|c.1504-48A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|9/20|c.1504-48A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|16/20|c.1504-48A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|14/20|c.1504-48A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|10/20|c.1504-48A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|12/20|c.1504-48A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|15/20|c.1504-48A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|13/20|c.1504-48A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|8/20|c.1504-48A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|11/19|c.1504-48A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|9/19|c.1504-48A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|16/19|c.1504-48A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|14/19|c.1504-48A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|10/19|c.1504-48A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|12/19|c.1504-48A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|15/19|c.1504-48A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|13/19|c.1504-48A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|8/19|c.1504-48A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|9/18|c.1504-48A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|7/18|c.1504-48A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|14/18|c.1504-48A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|12/18|c.1504-48A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|8/18|c.1504-48A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|10/18|c.1504-48A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|13/18|c.1504-48A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|11/18|c.1504-48A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|6/18|c.1504-48A>C||||||,C|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000492087|retained_intron||n.-1A>C|||||1203|,C|downstream_gene_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000453743|antisense||n.*580T>G|||||2152|,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|14/19|c.1504-48A>C||||||,C|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense|4/4|n.447+2137T>G||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|14/19|c.1504-48A>C||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|13/18|c.1096-48A>C||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|14/18|c.1504-48A>C||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|12/17|c.1504-48A>C|||||| 22 30412523 . C T . . ANN=T|synonymous_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|15/20|c.1510C>T|p.Leu504Leu|1852/6018|1510/3597|504/1198||,T|synonymous_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|15/20|c.1510C>T|p.Leu504Leu|1838/8906|1510/3513|504/1170||,T|synonymous_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|14/19|c.1102C>T|p.Leu368Leu|1722/5866|1102/3189|368/1062||,T|synonymous_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|15/19|c.1510C>T|p.Leu504Leu|1794/4464|1510/3486|504/1161||,T|synonymous_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|13/18|c.1510C>T|p.Leu504Leu|1519/3758|1510/3513|504/1170||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|11/20|c.1510C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|9/20|c.1510C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|16/20|c.1510C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|14/20|c.1510C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|10/20|c.1510C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|12/20|c.1510C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|15/20|c.1510C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|13/20|c.1510C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|8/20|c.1510C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|11/19|c.1510C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|9/19|c.1510C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|16/19|c.1510C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|14/19|c.1510C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|10/19|c.1510C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|12/19|c.1510C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|15/19|c.1510C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|13/19|c.1510C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|8/19|c.1510C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|9/18|c.1510C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|7/18|c.1510C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|14/18|c.1510C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|12/18|c.1510C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|8/18|c.1510C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|10/18|c.1510C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|13/18|c.1510C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|11/18|c.1510C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|6/18|c.1510C>T||||||,T|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000492087|retained_intron||n.-1C>T|||||1149|,T|downstream_gene_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000453743|antisense||n.*580G>A|||||2098|,T|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense|4/4|n.447+2083G>A|||||| 22 30412701 . A G . . ANN=G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|11/20|c.1674+14A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|9/20|c.1674+14A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|16/20|c.1674+14A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|14/20|c.1674+14A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|10/20|c.1674+14A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|12/20|c.1674+14A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|15/20|c.1674+14A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|13/20|c.1674+14A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|8/20|c.1674+14A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|11/19|c.1674+14A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|9/19|c.1674+14A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|16/19|c.1674+14A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|14/19|c.1674+14A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|10/19|c.1674+14A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|12/19|c.1674+14A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|15/19|c.1674+14A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|13/19|c.1674+14A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|8/19|c.1674+14A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|9/18|c.1674+14A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|7/18|c.1674+14A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|14/18|c.1674+14A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|12/18|c.1674+14A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|8/18|c.1674+14A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|10/18|c.1674+14A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|13/18|c.1674+14A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|11/18|c.1674+14A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|6/18|c.1674+14A>G||||||,G|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000492087|retained_intron||n.-1A>G|||||971|,G|downstream_gene_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000453743|antisense||n.*580T>C|||||1920|,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|15/19|c.1674+14A>G||||||,G|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense|4/4|n.447+1905T>C||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|15/19|c.1674+14A>G||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|14/18|c.1266+14A>G||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|15/18|c.1674+14A>G||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|13/17|c.1674+14A>G|||||| 22 30413877 . T C . . ANN=C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|11/20|c.1675-39T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|9/20|c.1675-39T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|16/20|c.1675-39T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|14/20|c.1675-39T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|10/20|c.1675-39T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|12/20|c.1675-39T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|15/20|c.1675-39T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|13/20|c.1675-39T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|8/20|c.1675-39T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|11/19|c.1675-39T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|9/19|c.1675-39T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|16/19|c.1675-39T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|14/19|c.1675-39T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|10/19|c.1675-39T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|12/19|c.1675-39T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|15/19|c.1675-39T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|13/19|c.1675-39T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|8/19|c.1675-39T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|9/18|c.1675-39T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|7/18|c.1675-39T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|14/18|c.1675-39T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|12/18|c.1675-39T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|8/18|c.1675-39T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|10/18|c.1675-39T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|13/18|c.1675-39T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|11/18|c.1675-39T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|6/18|c.1675-39T>C||||||,C|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000491251|retained_intron||n.-1T>C|||||4575|,C|downstream_gene_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000453743|antisense||n.*580A>G|||||744|,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|15/19|c.1675-39T>C||||||,C|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense|4/4|n.447+729A>G||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|15/19|c.1675-39T>C||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|14/18|c.1267-39T>C||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|15/18|c.1675-39T>C||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|13/17|c.1675-39T>C||||||,C|non_coding_exon_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000492087|retained_intron|1/2|n.206T>C|||||| 22 30414091 . C T . . ANN=T|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000491251|retained_intron||n.-1C>T|||||4361|,T|downstream_gene_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000453743|antisense||n.*580G>A|||||530|,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|16/19|c.1820+30C>T||||||,T|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense|4/4|n.447+515G>A||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|16/19|c.1820+30C>T||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|15/18|c.1412+30C>T||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|16/18|c.1820+30C>T||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|14/17|c.1820+30C>T||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000492087|retained_intron|1/1|n.390+30C>T|||||| 22 30415423 . A G . . ANN=G|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000491251|retained_intron||n.-1A>G|||||3029|,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|16/19|c.1821-46A>G||||||,G|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense|3/4|n.335-705T>C||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|16/19|c.1821-46A>G||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|15/18|c.1413-46A>G||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|16/18|c.1821-46A>G||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|14/17|c.1821-46A>G||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000492087|retained_intron|1/1|n.391-46A>G||||||,G|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000453743|antisense|2/2|n.483-705T>C|||||| 22 30415666 . C T . . ANN=T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|17/20|c.2018C>T|p.Pro673Leu|2360/6018|2018/3597|673/1198||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|17/20|c.2018C>T|p.Pro673Leu|2346/8906|2018/3513|673/1170||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|16/19|c.1610C>T|p.Pro537Leu|2230/5866|1610/3189|537/1062||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|17/19|c.2018C>T|p.Pro673Leu|2302/4464|2018/3486|673/1161||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|15/18|c.2018C>T|p.Pro673Leu|2027/3758|2018/3513|673/1170||,T|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000491251|retained_intron||n.-1C>T|||||2786|,T|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000492087|retained_intron||n.*562C>T|||||26|,T|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense|3/4|n.335-948G>A||||||,T|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000453743|antisense|2/2|n.483-948G>A|||||| 22 30415669 . G T . . ANN=T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|17/20|c.2021G>T|p.Gly674Val|2363/6018|2021/3597|674/1198||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|17/20|c.2021G>T|p.Gly674Val|2349/8906|2021/3513|674/1170||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|16/19|c.1613G>T|p.Gly538Val|2233/5866|1613/3189|538/1062||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|17/19|c.2021G>T|p.Gly674Val|2305/4464|2021/3486|674/1161||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|15/18|c.2021G>T|p.Gly674Val|2030/3758|2021/3513|674/1170||,T|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000491251|retained_intron||n.-1G>T|||||2783|,T|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000492087|retained_intron||n.*562G>T|||||29|,T|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense|3/4|n.335-951C>A||||||,T|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000453743|antisense|2/2|n.483-951C>A|||||| 22 30415938 . G T . . ANN=T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|17/20|c.2290G>T|p.Gly764Cys|2632/6018|2290/3597|764/1198||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|17/20|c.2290G>T|p.Gly764Cys|2618/8906|2290/3513|764/1170||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|16/19|c.1882G>T|p.Gly628Cys|2502/5866|1882/3189|628/1062||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|17/19|c.2290G>T|p.Gly764Cys|2574/4464|2290/3486|764/1161||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|15/18|c.2290G>T|p.Gly764Cys|2299/3758|2290/3513|764/1170||,T|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000491251|retained_intron||n.-1G>T|||||2514|,T|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000492087|retained_intron||n.*562G>T|||||298|,T|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense|3/4|n.335-1220C>A||||||,T|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000453743|antisense|2/2|n.483-1220C>A|||||| 22 30415940 . C T . . ANN=T|synonymous_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|17/20|c.2292C>T|p.Gly764Gly|2634/6018|2292/3597|764/1198||,T|synonymous_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|17/20|c.2292C>T|p.Gly764Gly|2620/8906|2292/3513|764/1170||,T|synonymous_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|16/19|c.1884C>T|p.Gly628Gly|2504/5866|1884/3189|628/1062||,T|synonymous_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|17/19|c.2292C>T|p.Gly764Gly|2576/4464|2292/3486|764/1161||,T|synonymous_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|15/18|c.2292C>T|p.Gly764Gly|2301/3758|2292/3513|764/1170||,T|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000491251|retained_intron||n.-1C>T|||||2512|,T|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000492087|retained_intron||n.*562C>T|||||300|,T|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense|3/4|n.335-1222G>A||||||,T|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000453743|antisense|2/2|n.483-1222G>A|||||| 22 30415983 . C T . . ANN=T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|17/20|c.2335C>T|p.Leu779Phe|2677/6018|2335/3597|779/1198||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|17/20|c.2335C>T|p.Leu779Phe|2663/8906|2335/3513|779/1170||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|16/19|c.1927C>T|p.Leu643Phe|2547/5866|1927/3189|643/1062||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|17/19|c.2335C>T|p.Leu779Phe|2619/4464|2335/3486|779/1161||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|15/18|c.2335C>T|p.Leu779Phe|2344/3758|2335/3513|779/1170||,T|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000491251|retained_intron||n.-1C>T|||||2469|,T|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000492087|retained_intron||n.*562C>T|||||343|,T|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense|3/4|n.335-1265G>A||||||,T|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000453743|antisense|2/2|n.483-1265G>A|||||| 22 30416038 . G A . . ANN=A|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|17/20|c.2390G>A|p.Arg797Gln|2732/6018|2390/3597|797/1198||,A|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|17/20|c.2390G>A|p.Arg797Gln|2718/8906|2390/3513|797/1170||,A|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|16/19|c.1982G>A|p.Arg661Gln|2602/5866|1982/3189|661/1062||,A|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|17/19|c.2390G>A|p.Arg797Gln|2674/4464|2390/3486|797/1161||,A|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|15/18|c.2390G>A|p.Arg797Gln|2399/3758|2390/3513|797/1170||,A|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000491251|retained_intron||n.-1G>A|||||2414|,A|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000492087|retained_intron||n.*562G>A|||||398|,A|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense|3/4|n.335-1320C>T||||||,A|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000453743|antisense|2/2|n.483-1320C>T|||||| 22 30416057 . G T . . ANN=T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|17/20|c.2409G>T|p.Glu803Asp|2751/6018|2409/3597|803/1198||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|17/20|c.2409G>T|p.Glu803Asp|2737/8906|2409/3513|803/1170||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|16/19|c.2001G>T|p.Glu667Asp|2621/5866|2001/3189|667/1062||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|17/19|c.2409G>T|p.Glu803Asp|2693/4464|2409/3486|803/1161||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|15/18|c.2409G>T|p.Glu803Asp|2418/3758|2409/3513|803/1170||,T|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000491251|retained_intron||n.-1G>T|||||2395|,T|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000492087|retained_intron||n.*562G>T|||||417|,T|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense|3/4|n.335-1339C>A||||||,T|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000453743|antisense|2/2|n.483-1339C>A|||||| 22 30416107 . A G . . ANN=G|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|17/20|c.2459A>G|p.Tyr820Cys|2801/6018|2459/3597|820/1198||,G|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|17/20|c.2459A>G|p.Tyr820Cys|2787/8906|2459/3513|820/1170||,G|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|16/19|c.2051A>G|p.Tyr684Cys|2671/5866|2051/3189|684/1062||,G|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|17/19|c.2459A>G|p.Tyr820Cys|2743/4464|2459/3486|820/1161||,G|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|15/18|c.2459A>G|p.Tyr820Cys|2468/3758|2459/3513|820/1170||,G|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000491251|retained_intron||n.-1A>G|||||2345|,G|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000492087|retained_intron||n.*562A>G|||||467|,G|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense|3/4|n.335-1389T>C||||||,G|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000453743|antisense|2/2|n.483-1389T>C|||||| 22 30416131 . T C . . ANN=C|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|17/20|c.2483T>C|p.Leu828Pro|2825/6018|2483/3597|828/1198||,C|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|17/20|c.2483T>C|p.Leu828Pro|2811/8906|2483/3513|828/1170||,C|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|16/19|c.2075T>C|p.Leu692Pro|2695/5866|2075/3189|692/1062||,C|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|17/19|c.2483T>C|p.Leu828Pro|2767/4464|2483/3486|828/1161||,C|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|15/18|c.2483T>C|p.Leu828Pro|2492/3758|2483/3513|828/1170||,C|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000491251|retained_intron||n.-1T>C|||||2321|,C|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000492087|retained_intron||n.*562T>C|||||491|,C|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense|3/4|n.335-1413A>G||||||,C|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000453743|antisense|2/2|n.483-1413A>G|||||| 22 30416292 . C T . . ANN=T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|17/20|c.2644C>T|p.Pro882Ser|2986/6018|2644/3597|882/1198||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|17/20|c.2644C>T|p.Pro882Ser|2972/8906|2644/3513|882/1170||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|16/19|c.2236C>T|p.Pro746Ser|2856/5866|2236/3189|746/1062||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|17/19|c.2644C>T|p.Pro882Ser|2928/4464|2644/3486|882/1161||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|15/18|c.2644C>T|p.Pro882Ser|2653/3758|2644/3513|882/1170||,T|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000491251|retained_intron||n.-1C>T|||||2160|,T|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000492087|retained_intron||n.*562C>T|||||652|,T|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense|3/4|n.335-1574G>A||||||,T|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000453743|antisense|2/2|n.483-1574G>A|||||| 22 30416350 . G A . . ANN=A|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|17/20|c.2702G>A|p.Arg901Lys|3044/6018|2702/3597|901/1198||,A|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|17/20|c.2702G>A|p.Arg901Lys|3030/8906|2702/3513|901/1170||,A|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|16/19|c.2294G>A|p.Arg765Lys|2914/5866|2294/3189|765/1062||,A|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|17/19|c.2702G>A|p.Arg901Lys|2986/4464|2702/3486|901/1161||,A|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|15/18|c.2702G>A|p.Arg901Lys|2711/3758|2702/3513|901/1170||,A|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000491251|retained_intron||n.-1G>A|||||2102|,A|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000492087|retained_intron||n.*562G>A|||||710|,A|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense|3/4|n.335-1632C>T||||||,A|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000453743|antisense|2/2|n.483-1632C>T|||||| 22 30416362 . G A . . ANN=A|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|17/20|c.2714G>A|p.Gly905Asp|3056/6018|2714/3597|905/1198||,A|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|17/20|c.2714G>A|p.Gly905Asp|3042/8906|2714/3513|905/1170||,A|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|16/19|c.2306G>A|p.Gly769Asp|2926/5866|2306/3189|769/1062||,A|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|17/19|c.2714G>A|p.Gly905Asp|2998/4464|2714/3486|905/1161||,A|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|15/18|c.2714G>A|p.Gly905Asp|2723/3758|2714/3513|905/1170||,A|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000491251|retained_intron||n.-1G>A|||||2090|,A|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000492087|retained_intron||n.*562G>A|||||722|,A|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense|3/4|n.335-1644C>T||||||,A|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000453743|antisense|2/2|n.483-1644C>T|||||| 22 30416383 . G A . . ANN=A|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|17/20|c.2735G>A|p.Arg912His|3077/6018|2735/3597|912/1198||,A|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|17/20|c.2735G>A|p.Arg912His|3063/8906|2735/3513|912/1170||,A|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|16/19|c.2327G>A|p.Arg776His|2947/5866|2327/3189|776/1062||,A|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|17/19|c.2735G>A|p.Arg912His|3019/4464|2735/3486|912/1161||,A|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|15/18|c.2735G>A|p.Arg912His|2744/3758|2735/3513|912/1170||,A|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000491251|retained_intron||n.-1G>A|||||2069|,A|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000492087|retained_intron||n.*562G>A|||||743|,A|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense|3/4|n.335-1665C>T||||||,A|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000453743|antisense|2/2|n.483-1665C>T|||||| 22 30416468 . G A . . ANN=A|synonymous_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|17/20|c.2820G>A|p.Glu940Glu|3162/6018|2820/3597|940/1198||,A|synonymous_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|17/20|c.2820G>A|p.Glu940Glu|3148/8906|2820/3513|940/1170||,A|synonymous_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|16/19|c.2412G>A|p.Glu804Glu|3032/5866|2412/3189|804/1062||,A|synonymous_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|17/19|c.2820G>A|p.Glu940Glu|3104/4464|2820/3486|940/1161||,A|synonymous_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|15/18|c.2820G>A|p.Glu940Glu|2829/3758|2820/3513|940/1170||,A|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000491251|retained_intron||n.-1G>A|||||1984|,A|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000492087|retained_intron||n.*562G>A|||||828|,A|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense|3/4|n.335-1750C>T||||||,A|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000453743|antisense|2/2|n.483-1750C>T|||||| 22 30416486 . C T . . ANN=T|synonymous_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|17/20|c.2838C>T|p.Ser946Ser|3180/6018|2838/3597|946/1198||,T|synonymous_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|17/20|c.2838C>T|p.Ser946Ser|3166/8906|2838/3513|946/1170||,T|synonymous_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|16/19|c.2430C>T|p.Ser810Ser|3050/5866|2430/3189|810/1062||,T|synonymous_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|17/19|c.2838C>T|p.Ser946Ser|3122/4464|2838/3486|946/1161||,T|synonymous_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|15/18|c.2838C>T|p.Ser946Ser|2847/3758|2838/3513|946/1170||,T|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000491251|retained_intron||n.-1C>T|||||1966|,T|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000492087|retained_intron||n.*562C>T|||||846|,T|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense|3/4|n.335-1768G>A||||||,T|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000453743|antisense|2/2|n.483-1768G>A|||||| 22 30416490 . C T . . ANN=T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|17/20|c.2842C>T|p.Leu948Phe|3184/6018|2842/3597|948/1198||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|17/20|c.2842C>T|p.Leu948Phe|3170/8906|2842/3513|948/1170||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|16/19|c.2434C>T|p.Leu812Phe|3054/5866|2434/3189|812/1062||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|17/19|c.2842C>T|p.Leu948Phe|3126/4464|2842/3486|948/1161||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|15/18|c.2842C>T|p.Leu948Phe|2851/3758|2842/3513|948/1170||,T|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000491251|retained_intron||n.-1C>T|||||1962|,T|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000492087|retained_intron||n.*562C>T|||||850|,T|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense|3/4|n.335-1772G>A||||||,T|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000453743|antisense|2/2|n.483-1772G>A|||||| 22 30416527 . A G . . ANN=G|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|17/20|c.2879A>G|p.Asn960Ser|3221/6018|2879/3597|960/1198||,G|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|17/20|c.2879A>G|p.Asn960Ser|3207/8906|2879/3513|960/1170||,G|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|16/19|c.2471A>G|p.Asn824Ser|3091/5866|2471/3189|824/1062||,G|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|17/19|c.2879A>G|p.Asn960Ser|3163/4464|2879/3486|960/1161||,G|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|15/18|c.2879A>G|p.Asn960Ser|2888/3758|2879/3513|960/1170||,G|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000491251|retained_intron||n.-1A>G|||||1925|,G|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000492087|retained_intron||n.*562A>G|||||887|,G|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense|3/4|n.335-1809T>C||||||,G|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000453743|antisense|2/2|n.483-1809T>C|||||| 22 30416531 . G A . . ANN=A|synonymous_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|17/20|c.2883G>A|p.Gly961Gly|3225/6018|2883/3597|961/1198||,A|synonymous_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|17/20|c.2883G>A|p.Gly961Gly|3211/8906|2883/3513|961/1170||,A|synonymous_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|16/19|c.2475G>A|p.Gly825Gly|3095/5866|2475/3189|825/1062||,A|synonymous_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|17/19|c.2883G>A|p.Gly961Gly|3167/4464|2883/3486|961/1161||,A|synonymous_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|15/18|c.2883G>A|p.Gly961Gly|2892/3758|2883/3513|961/1170||,A|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000491251|retained_intron||n.-1G>A|||||1921|,A|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000492087|retained_intron||n.*562G>A|||||891|,A|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense|3/4|n.335-1813C>T||||||,A|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000453743|antisense|2/2|n.483-1813C>T|||||| 22 30418004 . T G . . ANN=G|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000491251|retained_intron||n.-1T>G|||||448|,G|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000492087|retained_intron||n.*562T>G|||||2364|,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|17/19|c.3226-14T>G||||||,G|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense|3/4|n.335-3286A>C||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|17/19|c.3226-594T>G||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|16/18|c.2818-14T>G||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|17/18|c.3226-594T>G||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|15/17|c.3226-594T>G||||||,G|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000453743|antisense|2/2|n.483-3286A>C|||||| 22 30418035 . G A . . ANN=A|synonymous_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|18/20|c.3243G>A|p.Ser1081Ser|3585/6018|3243/3597|1081/1198||,A|synonymous_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|17/19|c.2835G>A|p.Ser945Ser|3455/5866|2835/3189|945/1062||,A|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000491251|retained_intron||n.-1G>A|||||417|,A|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000492087|retained_intron||n.*562G>A|||||2395|,A|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense|3/4|n.335-3317C>T||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|17/19|c.3226-563G>A||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|17/18|c.3226-563G>A||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|15/17|c.3226-563G>A||||||,A|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000453743|antisense|2/2|n.483-3317C>T|||||| 22 30418161 . A C . . ANN=C|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000491251|retained_intron||n.-1A>C|||||291|,C|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000492087|retained_intron||n.*562A>C|||||2521|,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|18/19|c.3336+33A>C||||||,C|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense|3/4|n.335-3443T>G||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|17/19|c.3226-437A>C||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|17/18|c.2928+33A>C||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|17/18|c.3226-437A>C||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|15/17|c.3226-437A>C||||||,C|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000453743|antisense|2/2|n.483-3443T>G|||||| 22 30418173 . T G . . ANN=G|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000491251|retained_intron||n.-1T>G|||||279|,G|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000492087|retained_intron||n.*562T>G|||||2533|,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|18/19|c.3336+45T>G||||||,G|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense|3/4|n.335-3455A>C||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|17/19|c.3226-425T>G||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|17/18|c.2928+45T>G||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|17/18|c.3226-425T>G||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|15/17|c.3226-425T>G||||||,G|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000453743|antisense|2/2|n.483-3455A>C|||||| 22 30418548 . A G . . ANN=G|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000492087|retained_intron||n.*562A>G|||||2908|,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|18/19|c.3337-50A>G||||||,G|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense|3/4|n.335-3830T>C||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|17/19|c.3226-50A>G||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|17/18|c.2929-50A>G||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|17/18|c.3226-50A>G||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|15/17|c.3226-50A>G||||||,G|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000453743|antisense|2/2|n.483-3830T>C||||||,G|non_coding_exon_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000491251|retained_intron|1/2|n.97A>G|||||| 22 30419479 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|19/19|c.3341+7A>G||||||,G|splice_region_variant&intron_variant|LOW|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|17/17|c.3341+7A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|zinc_finger_region:FYVE-type|ENST00000401950|protein_coding|20/20|c.3425+793A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|zinc_finger_region:FYVE-type|ENST00000401950|protein_coding|19/20|c.3425+793A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|zinc_finger_region:FYVE-type|ENST00000351488|protein_coding|18/19|c.3314+793A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|zinc_finger_region:FYVE-type|ENST00000351488|protein_coding|19/19|c.3314+793A>G||||||,G|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000492087|retained_intron||n.*562A>G|||||3839|,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|19/19|c.3425+793A>G||||||,G|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense|3/4|n.335-4761T>C||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|18/18|c.3017+793A>G||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|18/18|c.3314+793A>G||||||,G|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000453743|antisense|2/2|n.483-4761T>C||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000491251|retained_intron|1/1|n.235+793A>G|||||| 22 30421786 . A T . . ANN=T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|20/20|c.3593A>T|p.Asn1198Ile|3935/6018|3593/3597|1198/1198||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|20/20|c.3509A>T|p.Asn1170Ile|3837/8906|3509/3513|1170/1170||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|19/19|c.3185A>T|p.Asn1062Ile|3805/5866|3185/3189|1062/1062||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|19/19|c.3482A>T|p.Asn1161Ile|3766/4464|3482/3486|1161/1161||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|18/18|c.3509A>T|p.Asn1170Ile|3518/3758|3509/3513|1170/1170||,T|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense|3/4|n.335-7068T>A||||||,T|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000453743|antisense|2/2|n.483-7068T>A||||||,T|non_coding_exon_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000491251|retained_intron|2/2|n.403A>T|||||| 22 30489945 . G A . . ANN=A|missense_variant|MODERATE|HORMAD2|ENSG00000176635|transcript|ENST00000336726|protein_coding|2/11|c.4G>A|p.Ala2Thr|359/2187|4/924|2/307||,A|missense_variant|MODERATE|HORMAD2|ENSG00000176635|transcript|ENST00000403975|protein_coding|2/11|c.4G>A|p.Ala2Thr|289/2115|4/924|2/307||,A|upstream_gene_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000491605|retained_intron||n.-1G>A|||||2|,A|non_coding_exon_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000450612|nonsense_mediated_decay|2/9|n.4G>A|||||| 22 30494830 . TG T . . ANN=|intron_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000336726|protein_coding|2/10|c.52-10delG||||||,|intron_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000450612|nonsense_mediated_decay|2/8|n.52-10delG||||||,|intron_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000403975|protein_coding|2/10|c.52-10delG||||||,|intron_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000491605|retained_intron|1/3|n.47-10delG|||||| 22 30494847 . G C . . ANN=C|missense_variant|MODERATE|HORMAD2|ENSG00000176635|transcript|ENST00000336726|protein_coding|3/11|c.58G>C|p.Val20Leu|413/2187|58/924|20/307||,C|missense_variant|MODERATE|HORMAD2|ENSG00000176635|transcript|ENST00000403975|protein_coding|3/11|c.58G>C|p.Val20Leu|343/2115|58/924|20/307||,C|non_coding_exon_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000450612|nonsense_mediated_decay|3/9|n.58G>C||||||,C|non_coding_exon_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000491605|retained_intron|2/4|n.53G>C|||||| 22 30494910 . A G . . ANN=G|missense_variant|MODERATE|HORMAD2|ENSG00000176635|transcript|ENST00000336726|protein_coding|3/11|c.121A>G|p.Thr41Ala|476/2187|121/924|41/307||,G|missense_variant|MODERATE|HORMAD2|ENSG00000176635|transcript|ENST00000403975|protein_coding|3/11|c.121A>G|p.Thr41Ala|406/2115|121/924|41/307||,G|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|5/11|c.121A>G||||||,G|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|7/11|c.121A>G||||||,G|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|6/11|c.121A>G||||||,G|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|3/11|c.121A>G||||||,G|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|4/11|c.121A>G||||||,G|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|8/11|c.121A>G||||||,G|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|10/11|c.121A>G||||||,G|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|9/11|c.121A>G||||||,G|non_coding_exon_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000450612|nonsense_mediated_decay|3/9|n.121A>G||||||,G|non_coding_exon_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000491605|retained_intron|2/4|n.116A>G|||||| 22 30494958 . T C . . ANN=C|missense_variant|MODERATE|HORMAD2|ENSG00000176635|transcript|ENST00000336726|protein_coding|3/11|c.169T>C|p.Ser57Pro|524/2187|169/924|57/307||,C|missense_variant|MODERATE|HORMAD2|ENSG00000176635|transcript|ENST00000403975|protein_coding|3/11|c.169T>C|p.Ser57Pro|454/2115|169/924|57/307||,C|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|5/11|c.169T>C||||||,C|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|7/11|c.169T>C||||||,C|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|6/11|c.169T>C||||||,C|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|3/11|c.169T>C||||||,C|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|4/11|c.169T>C||||||,C|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|8/11|c.169T>C||||||,C|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|10/11|c.169T>C||||||,C|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|9/11|c.169T>C||||||,C|non_coding_exon_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000450612|nonsense_mediated_decay|3/9|n.169T>C||||||,C|non_coding_exon_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000491605|retained_intron|2/4|n.164T>C|||||| 22 30499392 . T C . . ANN=C|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|5/11|c.194-34T>C||||||,C|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|7/11|c.194-34T>C||||||,C|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|6/11|c.194-34T>C||||||,C|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|3/11|c.194-34T>C||||||,C|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|4/11|c.194-34T>C||||||,C|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|8/11|c.194-34T>C||||||,C|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|10/11|c.194-34T>C||||||,C|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|9/11|c.194-34T>C||||||,C|downstream_gene_variant|MODIFIER|CTA-85E5.7|ENSG00000226573|transcript|ENST00000423857|processed_pseudogene||n.*315A>G|||||1691|,C|intron_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000336726|protein_coding|3/10|c.194-34T>C||||||,C|intron_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000450612|nonsense_mediated_decay|3/8|n.194-34T>C||||||,C|intron_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000403975|protein_coding|3/10|c.194-34T>C||||||,C|intron_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000491605|retained_intron|2/3|n.189-34T>C|||||| 22 30499486 . G A . . ANN=A|missense_variant|MODERATE|HORMAD2|ENSG00000176635|transcript|ENST00000336726|protein_coding|4/11|c.254G>A|p.Arg85Lys|609/2187|254/924|85/307||,A|missense_variant|MODERATE|HORMAD2|ENSG00000176635|transcript|ENST00000403975|protein_coding|4/11|c.254G>A|p.Arg85Lys|539/2115|254/924|85/307||,A|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|5/11|c.254G>A||||||,A|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|7/11|c.254G>A||||||,A|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|6/11|c.254G>A||||||,A|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|3/11|c.254G>A||||||,A|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|4/11|c.254G>A||||||,A|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|8/11|c.254G>A||||||,A|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|10/11|c.254G>A||||||,A|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|9/11|c.254G>A||||||,A|downstream_gene_variant|MODIFIER|CTA-85E5.7|ENSG00000226573|transcript|ENST00000423857|processed_pseudogene||n.*315C>T|||||1597|,A|non_coding_exon_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000450612|nonsense_mediated_decay|4/9|n.254G>A||||||,A|non_coding_exon_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000491605|retained_intron|3/4|n.249G>A|||||| 22 30500351 . A T . . ANN=T|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|5/11|c.258-39A>T||||||,T|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|7/11|c.258-39A>T||||||,T|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|6/11|c.258-39A>T||||||,T|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|3/11|c.258-39A>T||||||,T|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|4/11|c.258-39A>T||||||,T|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|8/11|c.258-39A>T||||||,T|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|10/11|c.258-39A>T||||||,T|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|9/11|c.258-39A>T||||||,T|downstream_gene_variant|MODIFIER|CTA-85E5.7|ENSG00000226573|transcript|ENST00000423857|processed_pseudogene||n.*315T>A|||||732|,T|intron_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000336726|protein_coding|4/10|c.258-39A>T||||||,T|intron_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000450612|nonsense_mediated_decay|4/8|n.257+862A>T||||||,T|intron_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000403975|protein_coding|4/10|c.258-39A>T||||||,T|intron_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000491605|retained_intron|3/3|n.253-39A>T|||||| 22 30500435 . G A . . ANN=A|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|5/11|c.294+9G>A||||||,A|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|7/11|c.294+9G>A||||||,A|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|6/11|c.294+9G>A||||||,A|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|3/11|c.294+9G>A||||||,A|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|4/11|c.294+9G>A||||||,A|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|8/11|c.294+9G>A||||||,A|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|10/11|c.294+9G>A||||||,A|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|9/11|c.294+9G>A||||||,A|downstream_gene_variant|MODIFIER|CTA-85E5.7|ENSG00000226573|transcript|ENST00000423857|processed_pseudogene||n.*315C>T|||||648|,A|intron_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000336726|protein_coding|5/10|c.294+9G>A||||||,A|intron_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000450612|nonsense_mediated_decay|4/8|n.257+946G>A||||||,A|intron_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000403975|protein_coding|5/10|c.294+9G>A||||||,A|non_coding_exon_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000491605|retained_intron|4/4|n.298G>A|||||| 22 30507834 . C G . . ANN=G|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|5/11|c.315+29C>G||||||,G|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|7/11|c.315+29C>G||||||,G|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|6/11|c.315+29C>G||||||,G|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|3/11|c.315+29C>G||||||,G|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|4/11|c.315+29C>G||||||,G|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|8/11|c.315+29C>G||||||,G|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|10/11|c.315+29C>G||||||,G|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|9/11|c.315+29C>G||||||,G|intron_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000336726|protein_coding|6/10|c.315+29C>G||||||,G|intron_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000450612|nonsense_mediated_decay|5/8|n.*2+29C>G||||||,G|intron_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000403975|protein_coding|6/10|c.315+29C>G|||||| 22 30515049 . T C . . ANN=C|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|5/11|c.410+13T>C||||||,C|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|7/11|c.410+13T>C||||||,C|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|6/11|c.410+13T>C||||||,C|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|3/11|c.410+13T>C||||||,C|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|4/11|c.410+13T>C||||||,C|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|8/11|c.410+13T>C||||||,C|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|10/11|c.410+13T>C||||||,C|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|9/11|c.410+13T>C||||||,C|intron_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000336726|protein_coding|8/10|c.410+13T>C||||||,C|intron_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000450612|nonsense_mediated_decay|7/8|n.*97+13T>C||||||,C|intron_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000403975|protein_coding|8/10|c.410+13T>C|||||| 22 30515053 . T A . . ANN=A|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|5/11|c.410+17T>A||||||,A|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|7/11|c.410+17T>A||||||,A|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|6/11|c.410+17T>A||||||,A|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|3/11|c.410+17T>A||||||,A|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|4/11|c.410+17T>A||||||,A|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|8/11|c.410+17T>A||||||,A|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|10/11|c.410+17T>A||||||,A|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|9/11|c.410+17T>A||||||,A|intron_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000336726|protein_coding|8/10|c.410+17T>A||||||,A|intron_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000450612|nonsense_mediated_decay|7/8|n.*97+17T>A||||||,A|intron_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000403975|protein_coding|8/10|c.410+17T>A|||||| 22 30517650 . G A . . ANN=A|missense_variant|MODERATE|HORMAD2|ENSG00000176635|transcript|ENST00000336726|protein_coding|9/11|c.440G>A|p.Gly147Glu|795/2187|440/924|147/307||,A|missense_variant|MODERATE|HORMAD2|ENSG00000176635|transcript|ENST00000403975|protein_coding|9/11|c.440G>A|p.Gly147Glu|725/2115|440/924|147/307||,A|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|5/11|c.440G>A||||||,A|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|7/11|c.440G>A||||||,A|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|6/11|c.440G>A||||||,A|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|3/11|c.440G>A||||||,A|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|4/11|c.440G>A||||||,A|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|8/11|c.440G>A||||||,A|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|10/11|c.440G>A||||||,A|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|9/11|c.440G>A||||||,A|3_prime_UTR_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000450612|nonsense_mediated_decay|8/9|n.*127G>A|||||9847|,A|non_coding_exon_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000450612|nonsense_mediated_decay|8/9|n.*127G>A|||||| 22 30517756 . G C . . ANN=C|missense_variant|MODERATE|HORMAD2|ENSG00000176635|transcript|ENST00000336726|protein_coding|9/11|c.546G>C|p.Met182Ile|901/2187|546/924|182/307||,C|missense_variant|MODERATE|HORMAD2|ENSG00000176635|transcript|ENST00000403975|protein_coding|9/11|c.546G>C|p.Met182Ile|831/2115|546/924|182/307||,C|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|5/11|c.546G>C||||||,C|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|7/11|c.546G>C||||||,C|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|6/11|c.546G>C||||||,C|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|3/11|c.546G>C||||||,C|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|4/11|c.546G>C||||||,C|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|8/11|c.546G>C||||||,C|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|10/11|c.546G>C||||||,C|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|9/11|c.546G>C||||||,C|3_prime_UTR_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000450612|nonsense_mediated_decay|8/9|n.*233G>C|||||9953|,C|non_coding_exon_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000450612|nonsense_mediated_decay|8/9|n.*233G>C|||||| 22 30517949 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|HORMAD2|ENSG00000176635|transcript|ENST00000336726|protein_coding|9/10|c.569-4G>A||||||,A|splice_region_variant&intron_variant|LOW|HORMAD2|ENSG00000176635|transcript|ENST00000450612|nonsense_mediated_decay|8/8|n.*256-4G>A||||||,A|splice_region_variant&intron_variant|LOW|HORMAD2|ENSG00000176635|transcript|ENST00000403975|protein_coding|9/10|c.569-4G>A||||||,A|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|5/11|c.569-4G>A||||||,A|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|7/11|c.569-4G>A||||||,A|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|6/11|c.569-4G>A||||||,A|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|3/11|c.569-4G>A||||||,A|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|4/11|c.569-4G>A||||||,A|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|8/11|c.569-4G>A||||||,A|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|10/11|c.569-4G>A||||||,A|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|9/11|c.569-4G>A|||||| 22 30518166 . G A . . ANN=A|missense_variant|MODERATE|HORMAD2|ENSG00000176635|transcript|ENST00000336726|protein_coding|10/11|c.782G>A|p.Gly261Asp|1137/2187|782/924|261/307||,A|missense_variant|MODERATE|HORMAD2|ENSG00000176635|transcript|ENST00000403975|protein_coding|10/11|c.782G>A|p.Gly261Asp|1067/2115|782/924|261/307||,A|downstream_gene_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000450612|nonsense_mediated_decay||n.*333G>A|||||144| 22 30518233 . G A . . ANN=A|downstream_gene_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000450612|nonsense_mediated_decay||n.*333G>A|||||211|,A|intron_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000336726|protein_coding|10/10|c.819+30G>A||||||,A|intron_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000403975|protein_coding|10/10|c.819+30G>A|||||| 22 30572002 . A T . . ANN=T|intron_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000336726|protein_coding|10/10|c.820-50A>T||||||,T|intron_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000403975|protein_coding|10/10|c.820-50A>T|||||| 22 30572072 . G A . . ANN=A|synonymous_variant|LOW|HORMAD2|ENSG00000176635|transcript|ENST00000336726|protein_coding|11/11|c.840G>A|p.Val280Val|1195/2187|840/924|280/307||,A|synonymous_variant|LOW|HORMAD2|ENSG00000176635|transcript|ENST00000403975|protein_coding|11/11|c.840G>A|p.Val280Val|1125/2115|840/924|280/307|| 22 30572192 . A C . . ANN=C|3_prime_UTR_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000336726|protein_coding|11/11|c.*36A>C|||||36|,C|3_prime_UTR_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000403975|protein_coding|11/11|c.*36A>C|||||36| 22 30639700 . C T . . ANN=T|synonymous_variant|LOW|LIF|ENSG00000128342|transcript|ENST00000249075|protein_coding|3/3|c.549G>A|p.Leu183Leu|705/3969|549/609|183/202||,T|sequence_feature|LOW|LIF|ENSG00000128342|helix|ENST00000249075|protein_coding|3/3|c.549G>A||||||,T|sequence_feature|LOW|LIF|ENSG00000128342|disulfide_bond|ENST00000249075|protein_coding|3/3|c.549G>A||||||,T|3_prime_UTR_variant|MODIFIER|LIF|ENSG00000128342|transcript|ENST00000403987|protein_coding|2/2|c.*103G>A|||||103|,T|upstream_gene_variant|MODIFIER|RP1-102K2.8|ENSG00000268812|transcript|ENST00000608354|antisense||n.-1C>T|||||2494|,T|upstream_gene_variant|MODIFIER|RP1-102K2.8|ENSG00000268812|transcript|ENST00000593843|antisense||n.-1C>T|||||2284|,T|downstream_gene_variant|MODIFIER|RP1-102K2.6|ENSG00000232530|transcript|ENST00000447565|antisense||n.*808C>T|||||3173| 22 30639745 . G A . . ANN=A|synonymous_variant|LOW|LIF|ENSG00000128342|transcript|ENST00000249075|protein_coding|3/3|c.504C>T|p.Tyr168Tyr|660/3969|504/609|168/202||,A|sequence_feature|LOW|LIF|ENSG00000128342|disulfide_bond|ENST00000249075|protein_coding|3/3|c.504C>T||||||,A|3_prime_UTR_variant|MODIFIER|LIF|ENSG00000128342|transcript|ENST00000403987|protein_coding|2/2|c.*58C>T|||||58|,A|upstream_gene_variant|MODIFIER|RP1-102K2.8|ENSG00000268812|transcript|ENST00000608354|antisense||n.-1G>A|||||2449|,A|upstream_gene_variant|MODIFIER|RP1-102K2.8|ENSG00000268812|transcript|ENST00000593843|antisense||n.-1G>A|||||2239|,A|downstream_gene_variant|MODIFIER|RP1-102K2.6|ENSG00000232530|transcript|ENST00000447565|antisense||n.*808G>A|||||3218| 22 30639834 . C T . . ANN=T|missense_variant|MODERATE|LIF|ENSG00000128342|transcript|ENST00000249075|protein_coding|3/3|c.415G>A|p.Ala139Thr|571/3969|415/609|139/202||,T|missense_variant|MODERATE|LIF|ENSG00000128342|transcript|ENST00000403987|protein_coding|2/2|c.236G>A|p.Arg79His|280/592|236/267|79/88||,T|sequence_feature|LOW|LIF|ENSG00000128342|disulfide_bond|ENST00000249075|protein_coding|3/3|c.415G>A||||||,T|sequence_feature|LOW|LIF|ENSG00000128342|helix|ENST00000249075|protein_coding|3/3|c.415G>A||||||,T|sequence_feature|LOW|LIF|ENSG00000128342|disulfide_bond|ENST00000249075|protein_coding|2/3|c.415G>A||||||,T|upstream_gene_variant|MODIFIER|RP1-102K2.8|ENSG00000268812|transcript|ENST00000608354|antisense||n.-1C>T|||||2360|,T|upstream_gene_variant|MODIFIER|RP1-102K2.8|ENSG00000268812|transcript|ENST00000593843|antisense||n.-1C>T|||||2150|,T|downstream_gene_variant|MODIFIER|RP1-102K2.6|ENSG00000232530|transcript|ENST00000447565|antisense||n.*808C>T|||||3307| 22 30639835 . G A . . ANN=A|missense_variant|MODERATE|LIF|ENSG00000128342|transcript|ENST00000403987|protein_coding|2/2|c.235C>T|p.Arg79Cys|279/592|235/267|79/88||,A|sequence_feature|MODERATE|LIF|ENSG00000128342|glycosylation_site:N-linked__GlcNAc..._|ENST00000249075|protein_coding|3/3|c.414C>T||||||,A|synonymous_variant|LOW|LIF|ENSG00000128342|transcript|ENST00000249075|protein_coding|3/3|c.414C>T|p.Asn138Asn|570/3969|414/609|138/202||,A|sequence_feature|LOW|LIF|ENSG00000128342|disulfide_bond|ENST00000249075|protein_coding|3/3|c.414C>T||||||,A|sequence_feature|LOW|LIF|ENSG00000128342|helix|ENST00000249075|protein_coding|3/3|c.414C>T||||||,A|sequence_feature|LOW|LIF|ENSG00000128342|disulfide_bond|ENST00000249075|protein_coding|2/3|c.414C>T||||||,A|upstream_gene_variant|MODIFIER|RP1-102K2.8|ENSG00000268812|transcript|ENST00000608354|antisense||n.-1G>A|||||2359|,A|upstream_gene_variant|MODIFIER|RP1-102K2.8|ENSG00000268812|transcript|ENST00000593843|antisense||n.-1G>A|||||2149|,A|downstream_gene_variant|MODIFIER|RP1-102K2.6|ENSG00000232530|transcript|ENST00000447565|antisense||n.*808G>A|||||3308| 22 30639969 . C T . . ANN=T|missense_variant|MODERATE|LIF|ENSG00000128342|transcript|ENST00000249075|protein_coding|3/3|c.280G>A|p.Ala94Thr|436/3969|280/609|94/202||,T|missense_variant|MODERATE|LIF|ENSG00000128342|transcript|ENST00000403987|protein_coding|2/2|c.101G>A|p.Arg34His|145/592|101/267|34/88||,T|sequence_feature|LOW|LIF|ENSG00000128342|disulfide_bond|ENST00000249075|protein_coding|3/3|c.280G>A||||||,T|sequence_feature|LOW|LIF|ENSG00000128342|disulfide_bond|ENST00000249075|protein_coding|2/3|c.280G>A||||||,T|sequence_feature|LOW|LIF|ENSG00000128342|beta_strand|ENST00000249075|protein_coding|3/3|c.280G>A||||||,T|upstream_gene_variant|MODIFIER|RP1-102K2.8|ENSG00000268812|transcript|ENST00000608354|antisense||n.-1C>T|||||2225|,T|upstream_gene_variant|MODIFIER|RP1-102K2.8|ENSG00000268812|transcript|ENST00000593843|antisense||n.-1C>T|||||2015|,T|downstream_gene_variant|MODIFIER|RP1-102K2.6|ENSG00000232530|transcript|ENST00000447565|antisense||n.*808C>T|||||3442| 22 30639993 . C T . . ANN=T|missense_variant|MODERATE|LIF|ENSG00000128342|transcript|ENST00000249075|protein_coding|3/3|c.256G>A|p.Val86Met|412/3969|256/609|86/202||,T|missense_variant|MODERATE|LIF|ENSG00000128342|transcript|ENST00000403987|protein_coding|2/2|c.77G>A|p.Arg26His|121/592|77/267|26/88||,T|sequence_feature|LOW|LIF|ENSG00000128342|disulfide_bond|ENST00000249075|protein_coding|3/3|c.256G>A||||||,T|sequence_feature|LOW|LIF|ENSG00000128342|disulfide_bond|ENST00000249075|protein_coding|2/3|c.256G>A||||||,T|upstream_gene_variant|MODIFIER|RP1-102K2.8|ENSG00000268812|transcript|ENST00000608354|antisense||n.-1C>T|||||2201|,T|upstream_gene_variant|MODIFIER|RP1-102K2.8|ENSG00000268812|transcript|ENST00000593843|antisense||n.-1C>T|||||1991|,T|downstream_gene_variant|MODIFIER|RP1-102K2.6|ENSG00000232530|transcript|ENST00000447565|antisense||n.*808C>T|||||3466| 22 30639994 . G A . . ANN=A|missense_variant|MODERATE|LIF|ENSG00000128342|transcript|ENST00000403987|protein_coding|2/2|c.76C>T|p.Arg26Cys|120/592|76/267|26/88||,A|sequence_feature|MODERATE|LIF|ENSG00000128342|glycosylation_site:N-linked__GlcNAc..._|ENST00000249075|protein_coding|3/3|c.255C>T||||||,A|synonymous_variant|LOW|LIF|ENSG00000128342|transcript|ENST00000249075|protein_coding|3/3|c.255C>T|p.Asn85Asn|411/3969|255/609|85/202||,A|sequence_feature|LOW|LIF|ENSG00000128342|disulfide_bond|ENST00000249075|protein_coding|3/3|c.255C>T||||||,A|sequence_feature|LOW|LIF|ENSG00000128342|disulfide_bond|ENST00000249075|protein_coding|2/3|c.255C>T||||||,A|upstream_gene_variant|MODIFIER|RP1-102K2.8|ENSG00000268812|transcript|ENST00000608354|antisense||n.-1G>A|||||2200|,A|upstream_gene_variant|MODIFIER|RP1-102K2.8|ENSG00000268812|transcript|ENST00000593843|antisense||n.-1G>A|||||1990|,A|downstream_gene_variant|MODIFIER|RP1-102K2.6|ENSG00000232530|transcript|ENST00000447565|antisense||n.*808G>A|||||3467| 22 30640044 . C T . . ANN=T|missense_variant|MODERATE|LIF|ENSG00000128342|transcript|ENST00000249075|protein_coding|3/3|c.205G>A|p.Ala69Thr|361/3969|205/609|69/202||,T|missense_variant|MODERATE|LIF|ENSG00000128342|transcript|ENST00000403987|protein_coding|2/2|c.26G>A|p.Ser9Asn|70/592|26/267|9/88||,T|sequence_feature|LOW|LIF|ENSG00000128342|disulfide_bond|ENST00000249075|protein_coding|3/3|c.205G>A||||||,T|sequence_feature|LOW|LIF|ENSG00000128342|disulfide_bond|ENST00000249075|protein_coding|2/3|c.205G>A||||||,T|sequence_feature|LOW|LIF|ENSG00000128342|helix|ENST00000249075|protein_coding|3/3|c.205G>A||||||,T|sequence_feature|LOW|LIF|ENSG00000128342|helix|ENST00000249075|protein_coding|2/3|c.205G>A||||||,T|upstream_gene_variant|MODIFIER|RP1-102K2.8|ENSG00000268812|transcript|ENST00000608354|antisense||n.-1C>T|||||2150|,T|upstream_gene_variant|MODIFIER|RP1-102K2.8|ENSG00000268812|transcript|ENST00000593843|antisense||n.-1C>T|||||1940|,T|downstream_gene_variant|MODIFIER|RP1-102K2.6|ENSG00000232530|transcript|ENST00000447565|antisense||n.*808C>T|||||3517| 22 30640057 . G C . . ANN=C|splice_region_variant&intron_variant|LOW|LIF|ENSG00000128342|transcript|ENST00000249075|protein_coding|2/2|c.199-7C>G||||||,C|splice_region_variant&intron_variant|LOW|LIF|ENSG00000128342|transcript|ENST00000403987|protein_coding|1/1|c.20-7C>G||||||,C|sequence_feature|LOW|LIF|ENSG00000128342|disulfide_bond|ENST00000249075|protein_coding|3/3|c.199-7C>G||||||,C|sequence_feature|LOW|LIF|ENSG00000128342|disulfide_bond|ENST00000249075|protein_coding|2/3|c.199-7C>G||||||,C|sequence_feature|LOW|LIF|ENSG00000128342|helix|ENST00000249075|protein_coding|3/3|c.199-7C>G||||||,C|sequence_feature|LOW|LIF|ENSG00000128342|helix|ENST00000249075|protein_coding|2/3|c.199-7C>G||||||,C|upstream_gene_variant|MODIFIER|RP1-102K2.8|ENSG00000268812|transcript|ENST00000608354|antisense||n.-1G>C|||||2137|,C|upstream_gene_variant|MODIFIER|RP1-102K2.8|ENSG00000268812|transcript|ENST00000593843|antisense||n.-1G>C|||||1927|,C|downstream_gene_variant|MODIFIER|RP1-102K2.6|ENSG00000232530|transcript|ENST00000447565|antisense||n.*808G>C|||||3530| 22 30640765 . G C . . ANN=C|synonymous_variant|LOW|LIF|ENSG00000128342|transcript|ENST00000249075|protein_coding|2/3|c.177C>G|p.Ala59Ala|333/3969|177/609|59/202||,C|sequence_feature|LOW|LIF|ENSG00000128342|disulfide_bond|ENST00000249075|protein_coding|3/3|c.177C>G||||||,C|sequence_feature|LOW|LIF|ENSG00000128342|disulfide_bond|ENST00000249075|protein_coding|2/3|c.177C>G||||||,C|sequence_feature|LOW|LIF|ENSG00000128342|helix|ENST00000249075|protein_coding|3/3|c.177C>G||||||,C|sequence_feature|LOW|LIF|ENSG00000128342|helix|ENST00000249075|protein_coding|2/3|c.177C>G||||||,C|upstream_gene_variant|MODIFIER|RP1-102K2.8|ENSG00000268812|transcript|ENST00000608354|antisense||n.-1G>C|||||1429|,C|upstream_gene_variant|MODIFIER|RP1-102K2.8|ENSG00000268812|transcript|ENST00000593843|antisense||n.-1G>C|||||1219|,C|downstream_gene_variant|MODIFIER|RP1-102K2.6|ENSG00000232530|transcript|ENST00000447565|antisense||n.*808G>C|||||4238|,C|intron_variant|MODIFIER|LIF|ENSG00000128342|transcript|ENST00000403987|protein_coding|1/1|c.20-715C>G|||||| 22 30640836 . T C . . ANN=C|missense_variant|MODERATE|LIF|ENSG00000128342|transcript|ENST00000249075|protein_coding|2/3|c.106A>G|p.Ile36Val|262/3969|106/609|36/202||,C|sequence_feature|LOW|LIF|ENSG00000128342|disulfide_bond|ENST00000249075|protein_coding|3/3|c.106A>G||||||,C|sequence_feature|LOW|LIF|ENSG00000128342|disulfide_bond|ENST00000249075|protein_coding|2/3|c.106A>G||||||,C|upstream_gene_variant|MODIFIER|RP1-102K2.8|ENSG00000268812|transcript|ENST00000608354|antisense||n.-1T>C|||||1358|,C|upstream_gene_variant|MODIFIER|RP1-102K2.8|ENSG00000268812|transcript|ENST00000593843|antisense||n.-1T>C|||||1148|,C|downstream_gene_variant|MODIFIER|RP1-102K2.6|ENSG00000232530|transcript|ENST00000447565|antisense||n.*808T>C|||||4309|,C|intron_variant|MODIFIER|LIF|ENSG00000128342|transcript|ENST00000403987|protein_coding|1/1|c.20-786A>G|||||| 22 30640849 . G A . . ANN=A|sequence_feature|MODERATE|LIF|ENSG00000128342|glycosylation_site:N-linked__GlcNAc..._|ENST00000249075|protein_coding|2/3|c.93C>T||||||,A|synonymous_variant|LOW|LIF|ENSG00000128342|transcript|ENST00000249075|protein_coding|2/3|c.93C>T|p.Asn31Asn|249/3969|93/609|31/202||,A|upstream_gene_variant|MODIFIER|RP1-102K2.8|ENSG00000268812|transcript|ENST00000608354|antisense||n.-1G>A|||||1345|,A|upstream_gene_variant|MODIFIER|RP1-102K2.8|ENSG00000268812|transcript|ENST00000593843|antisense||n.-1G>A|||||1135|,A|downstream_gene_variant|MODIFIER|RP1-102K2.6|ENSG00000232530|transcript|ENST00000447565|antisense||n.*808G>A|||||4322|,A|intron_variant|MODIFIER|LIF|ENSG00000128342|transcript|ENST00000403987|protein_coding|1/1|c.20-799C>T|||||| 22 30640909 . C T . . ANN=T|synonymous_variant|LOW|LIF|ENSG00000128342|transcript|ENST00000249075|protein_coding|2/3|c.33G>A|p.Leu11Leu|189/3969|33/609|11/202||,T|sequence_feature|LOW|LIF|ENSG00000128342|signal_peptide|ENST00000249075|protein_coding|1/3|c.33G>A||||||,T|sequence_feature|LOW|LIF|ENSG00000128342|signal_peptide|ENST00000249075|protein_coding|2/3|c.33G>A||||||,T|upstream_gene_variant|MODIFIER|RP1-102K2.8|ENSG00000268812|transcript|ENST00000608354|antisense||n.-1C>T|||||1285|,T|upstream_gene_variant|MODIFIER|RP1-102K2.8|ENSG00000268812|transcript|ENST00000593843|antisense||n.-1C>T|||||1075|,T|downstream_gene_variant|MODIFIER|RP1-102K2.6|ENSG00000232530|transcript|ENST00000447565|antisense||n.*808C>T|||||4382|,T|intron_variant|MODIFIER|LIF|ENSG00000128342|transcript|ENST00000403987|protein_coding|1/1|c.20-859G>A|||||| 22 30640926 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|LIF|ENSG00000128342|transcript|ENST00000249075|protein_coding|1/2|c.20-4C>T||||||,A|sequence_feature|LOW|LIF|ENSG00000128342|signal_peptide|ENST00000249075|protein_coding|1/3|c.20-4C>T||||||,A|sequence_feature|LOW|LIF|ENSG00000128342|signal_peptide|ENST00000249075|protein_coding|2/3|c.20-4C>T||||||,A|upstream_gene_variant|MODIFIER|RP1-102K2.8|ENSG00000268812|transcript|ENST00000608354|antisense||n.-1G>A|||||1268|,A|upstream_gene_variant|MODIFIER|RP1-102K2.8|ENSG00000268812|transcript|ENST00000593843|antisense||n.-1G>A|||||1058|,A|downstream_gene_variant|MODIFIER|RP1-102K2.6|ENSG00000232530|transcript|ENST00000447565|antisense||n.*808G>A|||||4399|,A|intron_variant|MODIFIER|LIF|ENSG00000128342|transcript|ENST00000403987|protein_coding|1/1|c.20-876C>T|||||| 22 30642644 . G A . . ANN=A|sequence_feature|LOW|LIF|ENSG00000128342|signal_peptide|ENST00000249075|protein_coding|1/3|c.19+22C>T||||||,A|sequence_feature|LOW|LIF|ENSG00000128342|signal_peptide|ENST00000249075|protein_coding|2/3|c.19+22C>T||||||,A|intron_variant|MODIFIER|LIF|ENSG00000128342|transcript|ENST00000249075|protein_coding|1/2|c.19+22C>T||||||,A|intron_variant|MODIFIER|LIF|ENSG00000128342|transcript|ENST00000403987|protein_coding|1/1|c.19+22C>T||||||,A|non_coding_exon_variant|MODIFIER|RP1-102K2.8|ENSG00000268812|transcript|ENST00000608354|antisense|1/1|n.451G>A||||||,A|non_coding_exon_variant|MODIFIER|RP1-102K2.8|ENSG00000268812|transcript|ENST00000593843|antisense|2/2|n.460G>A|||||| 22 30642652 . G A . . ANN=A|sequence_feature|LOW|LIF|ENSG00000128342|signal_peptide|ENST00000249075|protein_coding|1/3|c.19+14C>T||||||,A|sequence_feature|LOW|LIF|ENSG00000128342|signal_peptide|ENST00000249075|protein_coding|2/3|c.19+14C>T||||||,A|intron_variant|MODIFIER|LIF|ENSG00000128342|transcript|ENST00000249075|protein_coding|1/2|c.19+14C>T||||||,A|intron_variant|MODIFIER|LIF|ENSG00000128342|transcript|ENST00000403987|protein_coding|1/1|c.19+14C>T||||||,A|non_coding_exon_variant|MODIFIER|RP1-102K2.8|ENSG00000268812|transcript|ENST00000608354|antisense|1/1|n.459G>A||||||,A|non_coding_exon_variant|MODIFIER|RP1-102K2.8|ENSG00000268812|transcript|ENST00000593843|antisense|2/2|n.468G>A|||||| 22 30659852 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|OSM|ENSG00000099985|transcript|ENST00000215781|protein_coding|3/3|c.*20C>T|||||20|,A|downstream_gene_variant|MODIFIER|OSM|ENSG00000099985|transcript|ENST00000403389|protein_coding||c.*985C>T|||||5|,A|downstream_gene_variant|MODIFIER|OSM|ENSG00000099985|transcript|ENST00000403463|protein_coding||c.*103C>T|||||212| 22 30659934 . G A . . ANN=A|missense_variant|MODERATE|OSM|ENSG00000099985|transcript|ENST00000215781|protein_coding|3/3|c.697C>T|p.Arg233Cys|738/1854|697/759|233/252||,A|missense_variant|MODERATE|OSM|ENSG00000099985|transcript|ENST00000403389|protein_coding|3/3|c.634C>T|p.Arg212Cys|923/1000|634/696|212/231||,A|sequence_feature|LOW|OSM|ENSG00000099985|maturation_peptide|ENST00000215781|protein_coding|3/3|c.697C>T||||||,A|downstream_gene_variant|MODIFIER|OSM|ENSG00000099985|transcript|ENST00000403463|protein_coding||c.*103C>T|||||130| 22 30659983 . C T . . ANN=T|synonymous_variant|LOW|OSM|ENSG00000099985|transcript|ENST00000215781|protein_coding|3/3|c.648G>A|p.Pro216Pro|689/1854|648/759|216/252||,T|synonymous_variant|LOW|OSM|ENSG00000099985|transcript|ENST00000403389|protein_coding|3/3|c.585G>A|p.Pro195Pro|874/1000|585/696|195/231||,T|downstream_gene_variant|MODIFIER|OSM|ENSG00000099985|transcript|ENST00000403463|protein_coding||c.*103G>A|||||81| 22 30659994 . C T . . ANN=T|missense_variant|MODERATE|OSM|ENSG00000099985|transcript|ENST00000215781|protein_coding|3/3|c.637G>A|p.Gly213Arg|678/1854|637/759|213/252||,T|missense_variant|MODERATE|OSM|ENSG00000099985|transcript|ENST00000403389|protein_coding|3/3|c.574G>A|p.Gly192Arg|863/1000|574/696|192/231||,T|downstream_gene_variant|MODIFIER|OSM|ENSG00000099985|transcript|ENST00000403463|protein_coding||c.*103G>A|||||70| 22 30659996 . C A . . ANN=A|missense_variant|MODERATE|OSM|ENSG00000099985|transcript|ENST00000215781|protein_coding|3/3|c.635G>T|p.Trp212Leu|676/1854|635/759|212/252||,A|missense_variant|MODERATE|OSM|ENSG00000099985|transcript|ENST00000403389|protein_coding|3/3|c.572G>T|p.Trp191Leu|861/1000|572/696|191/231||,A|downstream_gene_variant|MODIFIER|OSM|ENSG00000099985|transcript|ENST00000403463|protein_coding||c.*103G>T|||||68| 22 30660085 . C T . . ANN=T|synonymous_variant|LOW|OSM|ENSG00000099985|transcript|ENST00000215781|protein_coding|3/3|c.546G>A|p.Ser182Ser|587/1854|546/759|182/252||,T|synonymous_variant|LOW|OSM|ENSG00000099985|transcript|ENST00000403389|protein_coding|3/3|c.483G>A|p.Ser161Ser|772/1000|483/696|161/231||,T|sequence_feature|LOW|OSM|ENSG00000099985|disulfide_bond|ENST00000215781|protein_coding|3/3|c.546G>A||||||,T|3_prime_UTR_variant|MODIFIER|OSM|ENSG00000099985|transcript|ENST00000403463|protein_coding|2/2|c.*340G>A|||||340| 22 30660097 . G T . . ANN=T|synonymous_variant|LOW|OSM|ENSG00000099985|transcript|ENST00000215781|protein_coding|3/3|c.534C>A|p.Pro178Pro|575/1854|534/759|178/252||,T|synonymous_variant|LOW|OSM|ENSG00000099985|transcript|ENST00000403389|protein_coding|3/3|c.471C>A|p.Pro157Pro|760/1000|471/696|157/231||,T|sequence_feature|LOW|OSM|ENSG00000099985|disulfide_bond|ENST00000215781|protein_coding|3/3|c.534C>A||||||,T|3_prime_UTR_variant|MODIFIER|OSM|ENSG00000099985|transcript|ENST00000403463|protein_coding|2/2|c.*328C>A|||||328| 22 30660123 . G C . . ANN=C|missense_variant|MODERATE|OSM|ENSG00000099985|transcript|ENST00000215781|protein_coding|3/3|c.508C>G|p.Arg170Gly|549/1854|508/759|170/252||,C|missense_variant|MODERATE|OSM|ENSG00000099985|transcript|ENST00000403389|protein_coding|3/3|c.445C>G|p.Arg149Gly|734/1000|445/696|149/231||,C|sequence_feature|LOW|OSM|ENSG00000099985|disulfide_bond|ENST00000215781|protein_coding|3/3|c.508C>G||||||,C|3_prime_UTR_variant|MODIFIER|OSM|ENSG00000099985|transcript|ENST00000403463|protein_coding|2/2|c.*302C>G|||||302| 22 30660177 . A C . . ANN=C|missense_variant|MODERATE|OSM|ENSG00000099985|transcript|ENST00000215781|protein_coding|3/3|c.454T>G|p.Cys152Gly|495/1854|454/759|152/252||,C|missense_variant|MODERATE|OSM|ENSG00000099985|transcript|ENST00000403389|protein_coding|3/3|c.391T>G|p.Cys131Gly|680/1000|391/696|131/231||,C|sequence_feature|LOW|OSM|ENSG00000099985|disulfide_bond|ENST00000215781|protein_coding|3/3|c.454T>G||||||,C|sequence_feature|LOW|OSM|ENSG00000099985|helix|ENST00000215781|protein_coding|3/3|c.454T>G||||||,C|sequence_feature|LOW|OSM|ENSG00000099985|disulfide_bond|ENST00000215781|protein_coding|2/3|c.454T>G||||||,C|3_prime_UTR_variant|MODIFIER|OSM|ENSG00000099985|transcript|ENST00000403463|protein_coding|2/2|c.*248T>G|||||248| 22 30660199 . G A . . ANN=A|synonymous_variant|LOW|OSM|ENSG00000099985|transcript|ENST00000215781|protein_coding|3/3|c.432C>T|p.Leu144Leu|473/1854|432/759|144/252||,A|synonymous_variant|LOW|OSM|ENSG00000099985|transcript|ENST00000403389|protein_coding|3/3|c.369C>T|p.Leu123Leu|658/1000|369/696|123/231||,A|sequence_feature|LOW|OSM|ENSG00000099985|disulfide_bond|ENST00000215781|protein_coding|3/3|c.432C>T||||||,A|sequence_feature|LOW|OSM|ENSG00000099985|helix|ENST00000215781|protein_coding|3/3|c.432C>T||||||,A|sequence_feature|LOW|OSM|ENSG00000099985|disulfide_bond|ENST00000215781|protein_coding|2/3|c.432C>T||||||,A|3_prime_UTR_variant|MODIFIER|OSM|ENSG00000099985|transcript|ENST00000403463|protein_coding|2/2|c.*226C>T|||||226| 22 30660284 . C T . . ANN=T|missense_variant|MODERATE|OSM|ENSG00000099985|transcript|ENST00000215781|protein_coding|3/3|c.347G>A|p.Arg116His|388/1854|347/759|116/252||,T|missense_variant|MODERATE|OSM|ENSG00000099985|transcript|ENST00000403389|protein_coding|3/3|c.284G>A|p.Arg95His|573/1000|284/696|95/231||,T|sequence_feature|LOW|OSM|ENSG00000099985|disulfide_bond|ENST00000215781|protein_coding|3/3|c.347G>A||||||,T|sequence_feature|LOW|OSM|ENSG00000099985|disulfide_bond|ENST00000215781|protein_coding|2/3|c.347G>A||||||,T|3_prime_UTR_variant|MODIFIER|OSM|ENSG00000099985|transcript|ENST00000403463|protein_coding|2/2|c.*141G>A|||||141| 22 30660363 . G A . . ANN=A|synonymous_variant|LOW|OSM|ENSG00000099985|transcript|ENST00000215781|protein_coding|3/3|c.268C>T|p.Leu90Leu|309/1854|268/759|90/252||,A|synonymous_variant|LOW|OSM|ENSG00000099985|transcript|ENST00000403389|protein_coding|3/3|c.205C>T|p.Leu69Leu|494/1000|205/696|69/231||,A|sequence_feature|LOW|OSM|ENSG00000099985|disulfide_bond|ENST00000215781|protein_coding|3/3|c.268C>T||||||,A|sequence_feature|LOW|OSM|ENSG00000099985|disulfide_bond|ENST00000215781|protein_coding|2/3|c.268C>T||||||,A|3_prime_UTR_variant|MODIFIER|OSM|ENSG00000099985|transcript|ENST00000403463|protein_coding|2/2|c.*62C>T|||||62| 22 30660478 . G T . . ANN=T|sequence_feature|LOW|OSM|ENSG00000099985|disulfide_bond|ENST00000215781|protein_coding|3/3|c.178-25C>A||||||,T|sequence_feature|LOW|OSM|ENSG00000099985|disulfide_bond|ENST00000215781|protein_coding|2/3|c.178-25C>A||||||,T|sequence_feature|LOW|OSM|ENSG00000099985|helix|ENST00000215781|protein_coding|3/3|c.178-25C>A||||||,T|sequence_feature|LOW|OSM|ENSG00000099985|helix|ENST00000215781|protein_coding|2/3|c.178-25C>A||||||,T|intron_variant|MODIFIER|OSM|ENSG00000099985|transcript|ENST00000215781|protein_coding|2/2|c.178-25C>A||||||,T|intron_variant|MODIFIER|OSM|ENSG00000099985|transcript|ENST00000403389|protein_coding|2/2|c.115-25C>A||||||,T|intron_variant|MODIFIER|OSM|ENSG00000099985|transcript|ENST00000403463|protein_coding|1/1|c.35-25C>A|||||| 22 30660948 . T G . . ANN=G|sequence_feature|LOW|OSM|ENSG00000099985|disulfide_bond|ENST00000215781|protein_coding|3/3|c.177+43A>C||||||,G|sequence_feature|LOW|OSM|ENSG00000099985|disulfide_bond|ENST00000215781|protein_coding|2/3|c.177+43A>C||||||,G|sequence_feature|LOW|OSM|ENSG00000099985|helix|ENST00000215781|protein_coding|3/3|c.177+43A>C||||||,G|sequence_feature|LOW|OSM|ENSG00000099985|helix|ENST00000215781|protein_coding|2/3|c.177+43A>C||||||,G|intron_variant|MODIFIER|OSM|ENSG00000099985|transcript|ENST00000215781|protein_coding|2/2|c.177+43A>C||||||,G|intron_variant|MODIFIER|OSM|ENSG00000099985|transcript|ENST00000403389|protein_coding|2/2|c.114+43A>C||||||,G|intron_variant|MODIFIER|OSM|ENSG00000099985|transcript|ENST00000403463|protein_coding|1/1|c.35-495A>C|||||| 22 30661028 . T C . . ANN=C|missense_variant|MODERATE|OSM|ENSG00000099985|transcript|ENST00000215781|protein_coding|2/3|c.140A>G|p.Asp47Gly|181/1854|140/759|47/252||,C|missense_variant|MODERATE|OSM|ENSG00000099985|transcript|ENST00000403389|protein_coding|2/3|c.77A>G|p.Asp26Gly|366/1000|77/696|26/231||,C|sequence_feature|LOW|OSM|ENSG00000099985|disulfide_bond|ENST00000215781|protein_coding|3/3|c.140A>G||||||,C|sequence_feature|LOW|OSM|ENSG00000099985|disulfide_bond|ENST00000215781|protein_coding|2/3|c.140A>G||||||,C|sequence_feature|LOW|OSM|ENSG00000099985|helix|ENST00000215781|protein_coding|2/3|c.140A>G||||||,C|intron_variant|MODIFIER|OSM|ENSG00000099985|transcript|ENST00000403463|protein_coding|1/1|c.35-575A>G|||||| 22 30661059 . C T . . ANN=T|missense_variant|MODERATE|OSM|ENSG00000099985|transcript|ENST00000215781|protein_coding|2/3|c.109G>A|p.Val37Met|150/1854|109/759|37/252||,T|missense_variant|MODERATE|OSM|ENSG00000099985|transcript|ENST00000403389|protein_coding|2/3|c.46G>A|p.Val16Met|335/1000|46/696|16/231||,T|sequence_feature|LOW|OSM|ENSG00000099985|disulfide_bond|ENST00000215781|protein_coding|3/3|c.109G>A||||||,T|sequence_feature|LOW|OSM|ENSG00000099985|disulfide_bond|ENST00000215781|protein_coding|2/3|c.109G>A||||||,T|sequence_feature|LOW|OSM|ENSG00000099985|helix|ENST00000215781|protein_coding|2/3|c.109G>A||||||,T|intron_variant|MODIFIER|OSM|ENSG00000099985|transcript|ENST00000403463|protein_coding|1/1|c.35-606G>A|||||| 22 30662763 . G A . . ANN=A|missense_variant|MODERATE|OSM|ENSG00000099985|transcript|ENST00000215781|protein_coding|1/3|c.26C>T|p.Thr9Met|67/1854|26/759|9/252||,A|missense_variant|MODERATE|OSM|ENSG00000099985|transcript|ENST00000403463|protein_coding|1/2|c.26C>T|p.Thr9Met|66/464|26/63|9/20||,A|sequence_feature|LOW|OSM|ENSG00000099985|signal_peptide|ENST00000215781|protein_coding|1/3|c.26C>T||||||,A|sequence_feature|LOW|OSM|ENSG00000099985|signal_peptide|ENST00000215781|protein_coding|2/3|c.26C>T||||||,A|upstream_gene_variant|MODIFIER|OSM|ENSG00000099985|transcript|ENST00000403389|protein_coding||c.-290C>T|||||956| 22 30662806 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|OSM|ENSG00000099985|transcript|ENST00000215781|protein_coding|1/3|c.-18G>A|||||18|,T|5_prime_UTR_variant|MODIFIER|OSM|ENSG00000099985|transcript|ENST00000403463|protein_coding|1/2|c.-18G>A|||||18|,T|upstream_gene_variant|MODIFIER|OSM|ENSG00000099985|transcript|ENST00000403389|protein_coding||c.-290G>A|||||999| 22 30662813 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|OSM|ENSG00000099985|transcript|ENST00000215781|protein_coding|1/3|c.-25G>A|||||25|,T|5_prime_UTR_variant|MODIFIER|OSM|ENSG00000099985|transcript|ENST00000403463|protein_coding|1/2|c.-25G>A|||||25|,T|upstream_gene_variant|MODIFIER|OSM|ENSG00000099985|transcript|ENST00000403389|protein_coding||c.-290G>A|||||1006| 22 30662817 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|OSM|ENSG00000099985|transcript|ENST00000215781|protein_coding|1/3|c.-29G>A|||||29|,T|5_prime_UTR_variant|MODIFIER|OSM|ENSG00000099985|transcript|ENST00000403463|protein_coding|1/2|c.-29G>A|||||29|,T|upstream_gene_variant|MODIFIER|OSM|ENSG00000099985|transcript|ENST00000403389|protein_coding||c.-290G>A|||||1010| 22 30681713 . G A . . ANN=A|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay||n.*254C>T|||||108|,A|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron||n.*1143C>T|||||550|,A|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay||n.*233C>T|||||623|,A|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay||n.*232C>T|||||623|,A|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron||n.*949C>T|||||818|,A|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron||n.*966C>T|||||948|,A|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron||n.*704C>T|||||1361|,A|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay||n.*188C>T|||||1443|,A|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000464854|processed_transcript||n.*340C>T|||||1474|,A|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript||n.*372C>T|||||1715|,A|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding|8/8|c.922-36C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|12/12|c.1375-36C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000459785|processed_transcript|2/2|n.85-290C>T||||||,A|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding|7/7|c.808-36C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|13/13|n.*792-36C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|12/12|n.*662-36C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|11/11|n.*638-36C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|12/12|n.*708-36C>T||||||,A|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay|4/4|n.*401-36C>T|||||| 22 30681796 . CT C . . ANN=|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay||n.*254delA|||||24|,|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron||n.*1143delA|||||466|,|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay||n.*233delA|||||539|,|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay||n.*232delA|||||539|,|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron||n.*949delA|||||734|,|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron||n.*966delA|||||864|,|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron||n.*704delA|||||1277|,|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay||n.*188delA|||||1359|,|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000464854|processed_transcript||n.*340delA|||||1390|,|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript||n.*372delA|||||1631|,|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding|8/8|c.921+24delA||||||,|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|12/12|c.1374+24delA||||||WARNING_TRANSCRIPT_NO_START_CODON,|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000459785|processed_transcript|2/2|n.85-374delA||||||,|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding|7/7|c.807+24delA||||||,|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|13/13|n.*791+24delA||||||,|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|12/12|n.*661+24delA||||||,|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|11/11|n.*637+24delA||||||,|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|12/12|n.*707+24delA||||||,|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay|4/4|n.*400+24delA|||||| 22 30681797 . T TCTGCCCCAGCCCTTGGTGCTCCCC . . ANN=CTGCCCCAGCCCTTGGTGCTCCCC|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay||n.*254_*254insGGGGAGCACCAAGGGCTGGGGCAG|||||23|,CTGCCCCAGCCCTTGGTGCTCCCC|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron||n.*1143_*1143insGGGGAGCACCAAGGGCTGGGGCAG|||||465|,CTGCCCCAGCCCTTGGTGCTCCCC|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay||n.*233_*233insGGGGAGCACCAAGGGCTGGGGCAG|||||538|,CTGCCCCAGCCCTTGGTGCTCCCC|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay||n.*232_*232insGGGGAGCACCAAGGGCTGGGGCAG|||||538|,CTGCCCCAGCCCTTGGTGCTCCCC|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron||n.*949_*949insGGGGAGCACCAAGGGCTGGGGCAG|||||733|,CTGCCCCAGCCCTTGGTGCTCCCC|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron||n.*966_*966insGGGGAGCACCAAGGGCTGGGGCAG|||||863|,CTGCCCCAGCCCTTGGTGCTCCCC|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron||n.*704_*704insGGGGAGCACCAAGGGCTGGGGCAG|||||1276|,CTGCCCCAGCCCTTGGTGCTCCCC|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay||n.*188_*188insGGGGAGCACCAAGGGCTGGGGCAG|||||1358|,CTGCCCCAGCCCTTGGTGCTCCCC|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000464854|processed_transcript||n.*340_*340insGGGGAGCACCAAGGGCTGGGGCAG|||||1389|,CTGCCCCAGCCCTTGGTGCTCCCC|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript||n.*372_*372insGGGGAGCACCAAGGGCTGGGGCAG|||||1630|,CTGCCCCAGCCCTTGGTGCTCCCC|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding|8/8|c.921+23_921+24insGGGGAGCACCAAGGGCTGGGGCAG||||||,CTGCCCCAGCCCTTGGTGCTCCCC|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|12/12|c.1374+23_1374+24insGGGGAGCACCAAGGGCTGGGGCAG||||||WARNING_TRANSCRIPT_NO_START_CODON,CTGCCCCAGCCCTTGGTGCTCCCC|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000459785|processed_transcript|2/2|n.85-375_85-374insGGGGAGCACCAAGGGCTGGGGCAG||||||,CTGCCCCAGCCCTTGGTGCTCCCC|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding|7/7|c.807+23_807+24insGGGGAGCACCAAGGGCTGGGGCAG||||||,CTGCCCCAGCCCTTGGTGCTCCCC|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|13/13|n.*791+23_*791+24insGGGGAGCACCAAGGGCTGGGGCAG||||||,CTGCCCCAGCCCTTGGTGCTCCCC|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|12/12|n.*661+23_*661+24insGGGGAGCACCAAGGGCTGGGGCAG||||||,CTGCCCCAGCCCTTGGTGCTCCCC|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|11/11|n.*637+23_*637+24insGGGGAGCACCAAGGGCTGGGGCAG||||||,CTGCCCCAGCCCTTGGTGCTCCCC|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|12/12|n.*707+23_*707+24insGGGGAGCACCAAGGGCTGGGGCAG||||||,CTGCCCCAGCCCTTGGTGCTCCCC|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay|4/4|n.*400+23_*400+24insGGGGAGCACCAAGGGCTGGGGCAG|||||| 22 30681977 . G A . . ANN=A|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron||n.*1143C>T|||||286|,A|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay||n.*233C>T|||||359|,A|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay||n.*232C>T|||||359|,A|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron||n.*949C>T|||||554|,A|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron||n.*966C>T|||||684|,A|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron||n.*704C>T|||||1097|,A|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay||n.*188C>T|||||1179|,A|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000464854|processed_transcript||n.*340C>T|||||1210|,A|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript||n.*372C>T|||||1451|,A|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding|7/8|c.826+28C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|11/12|c.1279+28C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000459785|processed_transcript|2/2|n.85-554C>T||||||,A|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding|6/7|c.712+28C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|12/13|n.*696+28C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|11/12|n.*566+28C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|10/11|n.*542+28C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|11/12|n.*612+28C>T||||||,A|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay|3/4|n.*306-62C>T||||||,A|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay|6/6|n.*626+28C>T|||||| 22 30682006 . A G . . ANN=G|splice_region_variant&synonymous_variant|LOW|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding|7/9|c.825T>C|p.Phe275Phe|955/1623|825/990|275/329||,G|splice_region_variant&synonymous_variant|LOW|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|11/13|c.1278T>C|p.Phe426Phe|1278/1818|1278/1443|426/480||WARNING_TRANSCRIPT_NO_START_CODON,G|splice_region_variant&synonymous_variant|LOW|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding|6/8|c.711T>C|p.Phe237Phe|821/1460|711/876|237/291||,G|splice_region_variant&non_coding_exon_variant|LOW|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|12/14|n.*695T>C||||||,G|splice_region_variant&non_coding_exon_variant|LOW|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|11/13|n.*565T>C||||||,G|splice_region_variant&non_coding_exon_variant|LOW|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|10/12|n.*541T>C||||||,G|splice_region_variant&non_coding_exon_variant|LOW|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|11/13|n.*611T>C||||||,G|splice_region_variant&non_coding_exon_variant|LOW|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay|6/7|n.*625T>C||||||,G|3_prime_UTR_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|12/14|n.*695T>C|||||2740|,G|3_prime_UTR_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|11/13|n.*565T>C|||||2727|,G|3_prime_UTR_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|10/12|n.*541T>C|||||1514|,G|3_prime_UTR_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|11/13|n.*611T>C|||||1514|,G|3_prime_UTR_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay|6/7|n.*625T>C|||||1528|,G|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron||n.*1143T>C|||||257|,G|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay||n.*233T>C|||||330|,G|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay||n.*232T>C|||||330|,G|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron||n.*949T>C|||||525|,G|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron||n.*966T>C|||||655|,G|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron||n.*704T>C|||||1068|,G|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay||n.*188T>C|||||1150|,G|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000464854|processed_transcript||n.*340T>C|||||1181|,G|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript||n.*372T>C|||||1422|,G|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000459785|processed_transcript|2/2|n.85-583T>C||||||,G|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay|3/4|n.*306-91T>C|||||| 22 30682317 . C T . . ANN=T|synonymous_variant|LOW|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding|6/9|c.678G>A|p.Thr226Thr|808/1623|678/990|226/329||,T|3_prime_UTR_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|11/14|n.*548G>A|||||2429|,T|3_prime_UTR_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|10/13|n.*464G>A|||||1203|,T|3_prime_UTR_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay|5/7|n.*478G>A|||||1217|,T|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay||n.*233G>A|||||19|,T|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay||n.*232G>A|||||19|,T|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron||n.*949G>A|||||214|,T|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron||n.*966G>A|||||344|,T|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron||n.*704G>A|||||757|,T|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay||n.*188G>A|||||839|,T|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000464854|processed_transcript||n.*340G>A|||||870|,T|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript||n.*372G>A|||||1111|,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|10/12|c.1197-230G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000459785|processed_transcript|2/2|n.84+894G>A||||||,T|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding|5/7|c.630-230G>A||||||,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|10/12|n.*484-230G>A||||||,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|9/11|n.*416-186G>A||||||,T|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay|3/4|n.*306-402G>A||||||,T|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|11/14|n.*548G>A||||||,T|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|10/13|n.*464G>A||||||,T|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay|5/7|n.*478G>A||||||,T|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron|4/4|n.1089G>A|||||| 22 30682404 . C T . . ANN=T|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron||n.*949G>A|||||127|,T|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron||n.*966G>A|||||257|,T|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron||n.*704G>A|||||670|,T|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay||n.*188G>A|||||752|,T|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000464854|processed_transcript||n.*340G>A|||||783|,T|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript||n.*372G>A|||||1024|,T|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding|5/8|c.630-39G>A||||||,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|10/12|c.1197-317G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000459785|processed_transcript|2/2|n.84+807G>A||||||,T|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding|5/7|c.630-317G>A||||||,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|10/13|n.*500-39G>A||||||,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|10/12|n.*484-317G>A||||||,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|9/11|n.*416-273G>A||||||,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|9/12|n.*416-39G>A||||||,T|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay|3/4|n.*306-489G>A||||||,T|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay|4/6|n.*430-39G>A||||||,T|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay|6/6|n.*478-39G>A||||||,T|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay|5/5|n.*533-39G>A||||||,T|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron|4/4|n.1002G>A|||||| 22 30682767 . T C . . ANN=C|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron||n.*704A>G|||||307|,C|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay||n.*188A>G|||||389|,C|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000464854|processed_transcript||n.*340A>G|||||420|,C|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript||n.*372A>G|||||661|,C|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding|5/8|c.629+47A>G||||||,C|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|10/12|c.1196+47A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000459785|processed_transcript|2/2|n.84+444A>G||||||,C|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding|5/7|c.629+47A>G||||||,C|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|10/13|n.*499+47A>G||||||,C|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|10/12|n.*483+47A>G||||||,C|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|9/11|n.*415+47A>G||||||,C|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|9/12|n.*415+47A>G||||||,C|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay|3/4|n.*305+377A>G||||||,C|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay|4/6|n.*429+47A>G||||||,C|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay|6/6|n.*477+47A>G||||||,C|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay|5/5|n.*532+47A>G||||||,C|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron|4/4|n.639A>G||||||,C|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron|5/5|n.713A>G||||||,C|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron|3/3|n.860A>G|||||| 22 30682865 . G A . . ANN=A|missense_variant|MODERATE|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding|5/9|c.578C>T|p.Thr193Met|708/1623|578/990|193/329||,A|missense_variant|MODERATE|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|10/13|c.1145C>T|p.Thr382Met|1145/1818|1145/1443|382/480||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding|5/8|c.578C>T|p.Thr193Met|688/1460|578/876|193/291||,A|3_prime_UTR_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|10/14|n.*448C>T|||||1881|,A|3_prime_UTR_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|10/13|n.*432C>T|||||1868|,A|3_prime_UTR_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|9/12|n.*364C>T|||||655|,A|3_prime_UTR_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|9/13|n.*364C>T|||||655|,A|3_prime_UTR_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay|4/7|n.*378C>T|||||669|,A|3_prime_UTR_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay|6/7|n.*426C>T|||||946|,A|3_prime_UTR_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay|5/6|n.*481C>T|||||2433|,A|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron||n.*704C>T|||||209|,A|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay||n.*188C>T|||||291|,A|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000464854|processed_transcript||n.*340C>T|||||322|,A|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript||n.*372C>T|||||563|,A|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000459785|processed_transcript|2/2|n.84+346C>T||||||,A|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay|3/4|n.*305+279C>T||||||,A|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|10/14|n.*448C>T||||||,A|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|10/13|n.*432C>T||||||,A|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|9/12|n.*364C>T||||||,A|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|9/13|n.*364C>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay|4/7|n.*378C>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron|4/4|n.541C>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay|6/7|n.*426C>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay|5/6|n.*481C>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron|5/5|n.615C>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron|3/3|n.762C>T|||||| 22 30682874 . T A . . ANN=A|missense_variant|MODERATE|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding|5/9|c.569A>T|p.Asp190Val|699/1623|569/990|190/329||,A|missense_variant|MODERATE|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|10/13|c.1136A>T|p.Asp379Val|1136/1818|1136/1443|379/480||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding|5/8|c.569A>T|p.Asp190Val|679/1460|569/876|190/291||,A|3_prime_UTR_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|10/14|n.*439A>T|||||1872|,A|3_prime_UTR_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|10/13|n.*423A>T|||||1859|,A|3_prime_UTR_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|9/12|n.*355A>T|||||646|,A|3_prime_UTR_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|9/13|n.*355A>T|||||646|,A|3_prime_UTR_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay|4/7|n.*369A>T|||||660|,A|3_prime_UTR_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay|6/7|n.*417A>T|||||937|,A|3_prime_UTR_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay|5/6|n.*472A>T|||||2424|,A|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron||n.*704A>T|||||200|,A|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay||n.*188A>T|||||282|,A|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000464854|processed_transcript||n.*340A>T|||||313|,A|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript||n.*372A>T|||||554|,A|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000459785|processed_transcript|2/2|n.84+337A>T||||||,A|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay|3/4|n.*305+270A>T||||||,A|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|10/14|n.*439A>T||||||,A|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|10/13|n.*423A>T||||||,A|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|9/12|n.*355A>T||||||,A|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|9/13|n.*355A>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay|4/7|n.*369A>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron|4/4|n.532A>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay|6/7|n.*417A>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay|5/6|n.*472A>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron|5/5|n.606A>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron|3/3|n.753A>T|||||| 22 30682971 . C T . . ANN=T|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron||n.*704G>A|||||103|,T|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay||n.*188G>A|||||185|,T|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000464854|processed_transcript||n.*340G>A|||||216|,T|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript||n.*372G>A|||||457|,T|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding|4/8|c.506-34G>A||||||,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|9/12|c.1073-34G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000459785|processed_transcript|2/2|n.84+240G>A||||||,T|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding|4/7|c.506-34G>A||||||,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|9/13|n.*373-31G>A||||||,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|9/12|n.*360-34G>A||||||,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|8/11|n.*292-34G>A||||||,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|8/12|n.*292-34G>A||||||,T|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay|3/4|n.*305+173G>A||||||,T|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay|3/6|n.*306-34G>A||||||,T|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron|3/3|n.469-34G>A||||||,T|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay|5/6|n.*354-34G>A||||||,T|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay|4/5|n.*409-34G>A||||||,T|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron|4/4|n.540-31G>A||||||,T|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron|3/3|n.656G>A|||||| 22 30683105 . G A . . ANN=A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding||c.*1568C>T|||||4877|,A|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay||n.*188C>T|||||51|,A|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000464854|processed_transcript||n.*340C>T|||||82|,A|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript||n.*372C>T|||||323|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding||c.*1692C>T|||||4874|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000467596|retained_intron||n.*3131C>T|||||4875|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron||n.*5562C>T|||||4875|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding||c.*1466C>T|||||4892|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay||n.*1060C>T|||||4894|,A|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding|4/8|c.505+39C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|9/12|c.1072+39C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000459785|processed_transcript|2/2|n.84+106C>T||||||,A|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding|4/7|c.505+39C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|9/13|n.*372+39C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|9/12|n.*359+39C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|8/11|n.*291+39C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|8/12|n.*291+39C>T||||||,A|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay|3/4|n.*305+39C>T||||||,A|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay|3/6|n.*305+39C>T||||||,A|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron|3/3|n.468+39C>T||||||,A|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay|5/6|n.*353+39C>T||||||,A|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay|4/5|n.*408+39C>T||||||,A|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron|4/4|n.539+39C>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron|3/3|n.522C>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron|3/3|n.673C>T|||||| 22 30683285 . C G . . ANN=G|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding||c.*1568G>C|||||4697|,G|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript||n.*372G>C|||||143|,G|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding||c.*1692G>C|||||4694|,G|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000467596|retained_intron||n.*3131G>C|||||4695|,G|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron||n.*5562G>C|||||4695|,G|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding||c.*1466G>C|||||4712|,G|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay||n.*1060G>C|||||4714|,G|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding|3/8|c.373-9G>C||||||,G|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|8/12|c.940-9G>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000459785|processed_transcript|1/2|n.19-9G>C||||||,G|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding|3/7|c.373-9G>C||||||,G|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|8/13|n.*240-9G>C||||||,G|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|8/12|n.*227-9G>C||||||,G|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|7/11|n.*159-9G>C||||||,G|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|7/12|n.*159-9G>C||||||,G|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay|2/4|n.*173-9G>C||||||,G|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay|2/6|n.*173-9G>C||||||,G|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron|2/3|n.336-9G>C||||||,G|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay|4/6|n.*221-9G>C||||||,G|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay|3/5|n.*276-9G>C||||||,G|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron|3/4|n.407-9G>C||||||,G|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron|2/2|n.351-9G>C||||||,G|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay|3/3|n.*272-9G>C||||||,G|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000464854|processed_transcript|2/2|n.251-9G>C||||||,G|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron|3/3|n.493G>C|||||| 22 30683474 . G A . . ANN=A|missense_variant|MODERATE|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding|3/9|c.260C>T|p.Ala87Val|390/1623|260/990|87/329||,A|missense_variant|MODERATE|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|8/13|c.827C>T|p.Ala276Val|827/1818|827/1443|276/480||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding|3/8|c.260C>T|p.Ala87Val|370/1460|260/876|87/291||,A|3_prime_UTR_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|8/14|n.*127C>T|||||1272|,A|3_prime_UTR_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|8/13|n.*114C>T|||||1259|,A|3_prime_UTR_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|7/12|n.*46C>T|||||46|,A|3_prime_UTR_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|7/13|n.*46C>T|||||46|,A|3_prime_UTR_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay|2/5|n.*60C>T|||||60|,A|3_prime_UTR_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay|2/7|n.*60C>T|||||60|,A|3_prime_UTR_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay|4/7|n.*108C>T|||||337|,A|3_prime_UTR_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay|3/6|n.*163C>T|||||1824|,A|3_prime_UTR_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay|3/4|n.*159C>T|||||1824|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000459785|processed_transcript||n.-1C>T|||||95|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding||c.*1568C>T|||||4508|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding||c.*1692C>T|||||4505|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000467596|retained_intron||n.*3131C>T|||||4506|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron||n.*5562C>T|||||4506|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding||c.*1466C>T|||||4523|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay||n.*1060C>T|||||4525|,A|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|8/14|n.*127C>T||||||,A|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|8/13|n.*114C>T||||||,A|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|7/12|n.*46C>T||||||,A|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|7/13|n.*46C>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay|2/5|n.*60C>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay|2/7|n.*60C>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron|2/4|n.223C>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay|4/7|n.*108C>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay|3/6|n.*163C>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron|3/5|n.294C>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron|2/3|n.238C>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron|3/3|n.304C>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay|3/4|n.*159C>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000464854|processed_transcript|2/3|n.138C>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript|2/2|n.326C>T|||||| 22 30683560 . G A . . ANN=A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000459785|processed_transcript||n.-1C>T|||||181|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding||c.*1568C>T|||||4422|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding||c.*1692C>T|||||4419|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000467596|retained_intron||n.*3131C>T|||||4420|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron||n.*5562C>T|||||4420|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding||c.*1466C>T|||||4437|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay||n.*1060C>T|||||4439|,A|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding|2/8|c.185-11C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|7/12|c.752-11C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding|2/7|c.185-11C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|7/13|n.*52-11C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|7/12|n.*39-11C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|6/11|n.673-11C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|6/12|n.673-11C>T||||||,A|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay|1/4|n.114-11C>T||||||,A|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay|1/6|n.114-11C>T||||||,A|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron|1/3|n.148-11C>T||||||,A|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay|3/6|n.*33-11C>T||||||,A|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay|2/5|n.*88-11C>T||||||,A|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron|2/4|n.219-11C>T||||||,A|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron|1/2|n.163-11C>T||||||,A|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron|2/2|n.229-11C>T||||||,A|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay|2/3|n.*84-11C>T||||||,A|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000464854|processed_transcript|1/2|n.63-11C>T||||||,A|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript|1/1|n.251-11C>T|||||| 22 30684777 . T G . . ANN=G|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000459785|processed_transcript||n.-1A>C|||||1398|,G|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000464854|processed_transcript||n.-1A>C|||||838|,G|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding||c.*1568A>C|||||3205|,G|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding||c.*1692A>C|||||3202|,G|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000467596|retained_intron||n.*3131A>C|||||3203|,G|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron||n.*5562A>C|||||3203|,G|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding||c.*1466A>C|||||3220|,G|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay||n.*1060A>C|||||3222|,G|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000466666|retained_intron||n.*651A>C|||||4611|,G|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding|1/8|c.114-12A>C||||||,G|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|7/12|c.752-1228A>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding|1/7|c.114-12A>C||||||,G|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|6/13|n.713-12A>C||||||,G|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|6/12|n.667-12A>C||||||,G|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|6/11|n.673-1228A>C||||||,G|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|6/12|n.673-1228A>C||||||,G|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay|1/4|n.113+597A>C||||||,G|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay|1/6|n.113+597A>C||||||,G|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron|1/3|n.147+597A>C||||||,G|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay|1/6|n.114-12A>C||||||,G|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay|1/5|n.*17-12A>C||||||,G|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron|1/4|n.148-12A>C||||||,G|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron|1/2|n.162+597A>C||||||,G|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron|1/2|n.158-12A>C||||||,G|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay|1/3|n.*13-12A>C||||||,G|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript|1/1|n.250+509A>C|||||| 22 30684781 . G T . . ANN=T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000459785|processed_transcript||n.-1C>A|||||1402|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000464854|processed_transcript||n.-1C>A|||||842|,T|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding||c.*1568C>A|||||3201|,T|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding||c.*1692C>A|||||3198|,T|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000467596|retained_intron||n.*3131C>A|||||3199|,T|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron||n.*5562C>A|||||3199|,T|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding||c.*1466C>A|||||3216|,T|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay||n.*1060C>A|||||3218|,T|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000466666|retained_intron||n.*651C>A|||||4607|,T|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding|1/8|c.114-16C>A||||||,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|7/12|c.752-1232C>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding|1/7|c.114-16C>A||||||,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|6/13|n.713-16C>A||||||,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|6/12|n.667-16C>A||||||,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|6/11|n.673-1232C>A||||||,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|6/12|n.673-1232C>A||||||,T|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay|1/4|n.113+593C>A||||||,T|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay|1/6|n.113+593C>A||||||,T|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron|1/3|n.147+593C>A||||||,T|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay|1/6|n.114-16C>A||||||,T|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay|1/5|n.*17-16C>A||||||,T|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron|1/4|n.148-16C>A||||||,T|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron|1/2|n.162+593C>A||||||,T|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron|1/2|n.158-16C>A||||||,T|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay|1/3|n.*13-16C>A||||||,T|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript|1/1|n.250+505C>A|||||| 22 30685364 . G A . . ANN=A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000459785|processed_transcript||n.-1C>T|||||1985|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron||n.-1C>T|||||196|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000464854|processed_transcript||n.-1C>T|||||1425|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding||c.*1568C>T|||||2618|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding||c.*1692C>T|||||2615|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000467596|retained_intron||n.*3131C>T|||||2616|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron||n.*5562C>T|||||2616|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding||c.*1466C>T|||||2633|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay||n.*1060C>T|||||2635|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000466666|retained_intron||n.*651C>T|||||4024|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay||n.*354C>T|||||4546|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000393906|protein_coding||c.*578C>T|||||4714|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding|1/8|c.113+10C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|7/12|c.752-1815C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding|1/7|c.113+10C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|6/13|n.713-599C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|6/12|n.667-599C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|6/11|n.673-1815C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|6/12|n.673-1815C>T||||||,A|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay|1/4|n.113+10C>T||||||,A|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay|1/6|n.113+10C>T||||||,A|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron|1/3|n.147+10C>T||||||,A|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay|1/6|n.113+10C>T||||||,A|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron|1/4|n.147+10C>T||||||,A|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron|1/2|n.162+10C>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay|1/6|n.123C>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay|1/4|n.120C>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript|1/2|n.172C>T|||||| 22 30685495 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding|1/9|c.-9C>T|||||9|,A|5_prime_UTR_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding|1/8|c.-9C>T|||||9|,A|5_prime_UTR_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay|1/5|n.-9C>T|||||9|,A|5_prime_UTR_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay|1/7|n.-9C>T|||||9|,A|5_prime_UTR_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay|1/6|n.-9C>T|||||9|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000459785|processed_transcript||n.-1C>T|||||2116|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay||n.-9C>T|||||1|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron||n.-1C>T|||||327|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay||n.-3C>T|||||10|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000464854|processed_transcript||n.-1C>T|||||1556|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding||c.*1568C>T|||||2487|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding||c.*1692C>T|||||2484|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000467596|retained_intron||n.*3131C>T|||||2485|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron||n.*5562C>T|||||2485|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding||c.*1466C>T|||||2502|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay||n.*1060C>T|||||2504|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000466666|retained_intron||n.*651C>T|||||3893|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay||n.*354C>T|||||4415|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000393906|protein_coding||c.*578C>T|||||4583|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|7/12|c.752-1946C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|6/13|n.713-730C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|6/12|n.667-730C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|6/11|n.673-1946C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|6/12|n.673-1946C>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay|1/5|n.-9C>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay|1/7|n.-9C>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron|1/4|n.26C>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay|1/6|n.-9C>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron|1/5|n.26C>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron|1/3|n.41C>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript|1/2|n.41C>T|||||| 22 30685499 . G C . . ANN=C|5_prime_UTR_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding|1/9|c.-13C>G|||||13|,C|5_prime_UTR_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding|1/8|c.-13C>G|||||13|,C|5_prime_UTR_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay|1/5|n.-13C>G|||||13|,C|5_prime_UTR_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay|1/7|n.-13C>G|||||13|,C|5_prime_UTR_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay|1/6|n.-13C>G|||||13|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000459785|processed_transcript||n.-1C>G|||||2120|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay||n.-9C>G|||||5|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron||n.-1C>G|||||331|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay||n.-3C>G|||||14|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000464854|processed_transcript||n.-1C>G|||||1560|,C|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding||c.*1568C>G|||||2483|,C|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding||c.*1692C>G|||||2480|,C|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000467596|retained_intron||n.*3131C>G|||||2481|,C|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron||n.*5562C>G|||||2481|,C|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding||c.*1466C>G|||||2498|,C|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay||n.*1060C>G|||||2500|,C|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000466666|retained_intron||n.*651C>G|||||3889|,C|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay||n.*354C>G|||||4411|,C|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000393906|protein_coding||c.*578C>G|||||4579|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|7/12|c.752-1950C>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|6/13|n.713-734C>G||||||,C|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|6/12|n.667-734C>G||||||,C|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|6/11|n.673-1950C>G||||||,C|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|6/12|n.673-1950C>G||||||,C|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay|1/5|n.-13C>G||||||,C|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay|1/7|n.-13C>G||||||,C|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron|1/4|n.22C>G||||||,C|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay|1/6|n.-13C>G||||||,C|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron|1/5|n.22C>G||||||,C|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron|1/3|n.37C>G||||||,C|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript|1/2|n.37C>G|||||| 22 30688339 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding|9/9|c.*25C>T|||||25|,A|3_prime_UTR_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding|9/9|c.*25C>T|||||25|,A|3_prime_UTR_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding|9/9|c.*25C>T|||||25|,A|3_prime_UTR_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|10/10|n.*621C>T|||||928|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding||c.-131C>T|||||2723|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000459785|processed_transcript||n.-1C>T|||||4960|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding||c.-111C>T|||||2743|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay||n.-73C>T|||||2781|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay||n.-126C>T|||||2728|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron||n.-1C>T|||||2819|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay||n.-9C>T|||||2845|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay||n.-44C>T|||||2810|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron||n.-1C>T|||||2819|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron||n.-1C>T|||||2804|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron||n.-1C>T|||||3171|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay||n.-3C>T|||||2854|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000464854|processed_transcript||n.-1C>T|||||4400|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript||n.-1C>T|||||2804|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000466666|retained_intron||n.*651C>T|||||1049|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay||n.*354C>T|||||1571|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000393906|protein_coding||c.*578C>T|||||1739|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|7/12|c.751+423C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|6/13|n.712+423C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|6/12|n.666+1301C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|6/11|n.672+1301C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|6/12|n.672+1301C>T||||||,A|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000467596|retained_intron|6/6|n.2772C>T||||||,A|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron|5/5|n.5203C>T||||||,A|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|10/10|n.*621C>T|||||| 22 30688366 . A G . . ANN=G|stop_lost|HIGH|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding|9/9|c.1546T>C|p.Ter516Glnext*?|1566/1950|1546/1548|516/515||,G|stop_lost|HIGH|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding|9/9|c.1525T>C|p.Ter509Glnext*?|1690/2077|1525/1527|509/508||,G|stop_lost|HIGH|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding|9/9|c.1261T>C|p.Ter421Glnext*?|1464/1833|1261/1263|421/420||,G|3_prime_UTR_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|10/10|n.*594T>C|||||901|,G|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding||c.-131T>C|||||2750|,G|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000459785|processed_transcript||n.-1T>C|||||4987|,G|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding||c.-111T>C|||||2770|,G|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay||n.-73T>C|||||2808|,G|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay||n.-126T>C|||||2755|,G|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron||n.-1T>C|||||2846|,G|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay||n.-9T>C|||||2872|,G|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay||n.-44T>C|||||2837|,G|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron||n.-1T>C|||||2846|,G|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron||n.-1T>C|||||2831|,G|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron||n.-1T>C|||||3198|,G|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay||n.-3T>C|||||2881|,G|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000464854|processed_transcript||n.-1T>C|||||4427|,G|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript||n.-1T>C|||||2831|,G|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000466666|retained_intron||n.*651T>C|||||1022|,G|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay||n.*354T>C|||||1544|,G|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000393906|protein_coding||c.*578T>C|||||1712|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|7/12|c.751+396T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|6/13|n.712+396T>C||||||,G|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|6/12|n.666+1274T>C||||||,G|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|6/11|n.672+1274T>C||||||,G|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|6/12|n.672+1274T>C||||||,G|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000467596|retained_intron|6/6|n.2745T>C||||||,G|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron|5/5|n.5176T>C||||||,G|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|10/10|n.*594T>C|||||| 22 30688414 . G A . . ANN=A|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding|9/9|c.1498C>T|p.Arg500Cys|1518/1950|1498/1548|500/515||,A|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding|9/9|c.1477C>T|p.Arg493Cys|1642/2077|1477/1527|493/508||,A|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding|9/9|c.1213C>T|p.Arg405Cys|1416/1833|1213/1263|405/420||,A|3_prime_UTR_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|10/10|n.*546C>T|||||853|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding||c.-131C>T|||||2798|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding||c.-111C>T|||||2818|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay||n.-73C>T|||||2856|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay||n.-126C>T|||||2803|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron||n.-1C>T|||||2894|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay||n.-9C>T|||||2920|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay||n.-44C>T|||||2885|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron||n.-1C>T|||||2894|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron||n.-1C>T|||||2879|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron||n.-1C>T|||||3246|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay||n.-3C>T|||||2929|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000464854|processed_transcript||n.-1C>T|||||4475|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript||n.-1C>T|||||2879|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000466666|retained_intron||n.*651C>T|||||974|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay||n.*354C>T|||||1496|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000393906|protein_coding||c.*578C>T|||||1664|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|7/12|c.751+348C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|6/13|n.712+348C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|6/12|n.666+1226C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|6/11|n.672+1226C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|6/12|n.672+1226C>T||||||,A|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000467596|retained_intron|6/6|n.2697C>T||||||,A|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron|5/5|n.5128C>T||||||,A|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|10/10|n.*546C>T|||||| 22 30688448 . AGGGGCTGAGTCCTTG A . . ANN=|disruptive_inframe_deletion|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding|9/9|c.1449_1463delCAAGGACTCAGCCCC|p.Lys484_Pro488del|1483/1950|1449/1548|483/515||,|disruptive_inframe_deletion|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding|9/9|c.1428_1442delCAAGGACTCAGCCCC|p.Lys477_Pro481del|1607/2077|1428/1527|476/508||,|disruptive_inframe_deletion|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding|9/9|c.1164_1178delCAAGGACTCAGCCCC|p.Lys389_Pro393del|1381/1833|1164/1263|388/420||,|3_prime_UTR_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|10/10|n.*497_*511delCAAGGACTCAGCCCC|||||804|,|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding||c.-131_-131delCAAGGACTCAGCCCC|||||2833|,|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding||c.-111_-111delCAAGGACTCAGCCCC|||||2853|,|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay||n.-73_-73delCAAGGACTCAGCCCC|||||2891|,|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay||n.-126_-126delCAAGGACTCAGCCCC|||||2838|,|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron||n.-1_-1delCAAGGACTCAGCCCC|||||2929|,|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay||n.-9_-9delCAAGGACTCAGCCCC|||||2955|,|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay||n.-44_-44delCAAGGACTCAGCCCC|||||2920|,|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron||n.-1_-1delCAAGGACTCAGCCCC|||||2929|,|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron||n.-1_-1delCAAGGACTCAGCCCC|||||2914|,|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron||n.-1_-1delCAAGGACTCAGCCCC|||||3281|,|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay||n.-3_-3delCAAGGACTCAGCCCC|||||2964|,|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000464854|processed_transcript||n.-1_-1delCAAGGACTCAGCCCC|||||4510|,|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript||n.-1_-1delCAAGGACTCAGCCCC|||||2914|,|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000466666|retained_intron||n.*651_*651delCAAGGACTCAGCCCC|||||939|,|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay||n.*354_*354delCAAGGACTCAGCCCC|||||1461|,|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000393906|protein_coding||c.*578_*578delCAAGGACTCAGCCCC|||||1629|WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|7/12|c.751+299_751+313delCAAGGACTCAGCCCC||||||WARNING_TRANSCRIPT_NO_START_CODON,|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|6/13|n.712+299_712+313delCAAGGACTCAGCCCC||||||,|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|6/12|n.666+1177_666+1191delCAAGGACTCAGCCCC||||||,|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|6/11|n.672+1177_672+1191delCAAGGACTCAGCCCC||||||,|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|6/12|n.672+1177_672+1191delCAAGGACTCAGCCCC||||||,|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000467596|retained_intron|6/6|n.2648_2662delCAAGGACTCAGCCCC||||||,|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron|5/5|n.5079_5093delCAAGGACTCAGCCCC||||||,|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|10/10|n.*497_*511delCAAGGACTCAGCCCC|||||| 22 30688478 . C T . . ANN=T|synonymous_variant|LOW|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding|9/9|c.1434G>A|p.Pro478Pro|1454/1950|1434/1548|478/515||,T|synonymous_variant|LOW|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding|9/9|c.1413G>A|p.Pro471Pro|1578/2077|1413/1527|471/508||,T|synonymous_variant|LOW|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding|9/9|c.1149G>A|p.Pro383Pro|1352/1833|1149/1263|383/420||,T|3_prime_UTR_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|10/10|n.*482G>A|||||789|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding||c.-131G>A|||||2862|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding||c.-111G>A|||||2882|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay||n.-73G>A|||||2920|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay||n.-126G>A|||||2867|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron||n.-1G>A|||||2958|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay||n.-9G>A|||||2984|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay||n.-44G>A|||||2949|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron||n.-1G>A|||||2958|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron||n.-1G>A|||||2943|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron||n.-1G>A|||||3310|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay||n.-3G>A|||||2993|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000464854|processed_transcript||n.-1G>A|||||4539|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript||n.-1G>A|||||2943|,T|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000466666|retained_intron||n.*651G>A|||||910|,T|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay||n.*354G>A|||||1432|,T|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000393906|protein_coding||c.*578G>A|||||1600|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|7/12|c.751+284G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|6/13|n.712+284G>A||||||,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|6/12|n.666+1162G>A||||||,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|6/11|n.672+1162G>A||||||,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|6/12|n.672+1162G>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000467596|retained_intron|6/6|n.2633G>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron|5/5|n.5064G>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|10/10|n.*482G>A|||||| 22 30688486 . C T . . ANN=T|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding|9/9|c.1426G>A|p.Val476Met|1446/1950|1426/1548|476/515||,T|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding|9/9|c.1405G>A|p.Val469Met|1570/2077|1405/1527|469/508||,T|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding|9/9|c.1141G>A|p.Val381Met|1344/1833|1141/1263|381/420||,T|3_prime_UTR_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|10/10|n.*474G>A|||||781|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding||c.-131G>A|||||2870|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding||c.-111G>A|||||2890|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay||n.-73G>A|||||2928|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay||n.-126G>A|||||2875|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron||n.-1G>A|||||2966|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay||n.-9G>A|||||2992|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay||n.-44G>A|||||2957|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron||n.-1G>A|||||2966|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron||n.-1G>A|||||2951|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron||n.-1G>A|||||3318|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay||n.-3G>A|||||3001|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000464854|processed_transcript||n.-1G>A|||||4547|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript||n.-1G>A|||||2951|,T|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000466666|retained_intron||n.*651G>A|||||902|,T|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay||n.*354G>A|||||1424|,T|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000393906|protein_coding||c.*578G>A|||||1592|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|7/12|c.751+276G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|6/13|n.712+276G>A||||||,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|6/12|n.666+1154G>A||||||,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|6/11|n.672+1154G>A||||||,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|6/12|n.672+1154G>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000467596|retained_intron|6/6|n.2625G>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron|5/5|n.5056G>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|10/10|n.*474G>A|||||| 22 30688488 . T C . . ANN=C|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding|9/9|c.1424A>G|p.His475Arg|1444/1950|1424/1548|475/515||,C|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding|9/9|c.1403A>G|p.His468Arg|1568/2077|1403/1527|468/508||,C|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding|9/9|c.1139A>G|p.His380Arg|1342/1833|1139/1263|380/420||,C|3_prime_UTR_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|10/10|n.*472A>G|||||779|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding||c.-131A>G|||||2872|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding||c.-111A>G|||||2892|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay||n.-73A>G|||||2930|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay||n.-126A>G|||||2877|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron||n.-1A>G|||||2968|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay||n.-9A>G|||||2994|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay||n.-44A>G|||||2959|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron||n.-1A>G|||||2968|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron||n.-1A>G|||||2953|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron||n.-1A>G|||||3320|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay||n.-3A>G|||||3003|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000464854|processed_transcript||n.-1A>G|||||4549|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript||n.-1A>G|||||2953|,C|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000466666|retained_intron||n.*651A>G|||||900|,C|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay||n.*354A>G|||||1422|,C|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000393906|protein_coding||c.*578A>G|||||1590|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|7/12|c.751+274A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|6/13|n.712+274A>G||||||,C|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|6/12|n.666+1152A>G||||||,C|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|6/11|n.672+1152A>G||||||,C|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|6/12|n.672+1152A>G||||||,C|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000467596|retained_intron|6/6|n.2623A>G||||||,C|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron|5/5|n.5054A>G||||||,C|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|10/10|n.*472A>G|||||| 22 30688517 . G A . . ANN=A|synonymous_variant|LOW|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding|9/9|c.1395C>T|p.Ala465Ala|1415/1950|1395/1548|465/515||,A|synonymous_variant|LOW|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding|9/9|c.1374C>T|p.Ala458Ala|1539/2077|1374/1527|458/508||,A|synonymous_variant|LOW|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding|9/9|c.1110C>T|p.Ala370Ala|1313/1833|1110/1263|370/420||,A|3_prime_UTR_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|10/10|n.*443C>T|||||750|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding||c.-131C>T|||||2901|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding||c.-111C>T|||||2921|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay||n.-73C>T|||||2959|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay||n.-126C>T|||||2906|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron||n.-1C>T|||||2997|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay||n.-9C>T|||||3023|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay||n.-44C>T|||||2988|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron||n.-1C>T|||||2997|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron||n.-1C>T|||||2982|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron||n.-1C>T|||||3349|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay||n.-3C>T|||||3032|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000464854|processed_transcript||n.-1C>T|||||4578|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript||n.-1C>T|||||2982|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000466666|retained_intron||n.*651C>T|||||871|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay||n.*354C>T|||||1393|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000393906|protein_coding||c.*578C>T|||||1561|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|7/12|c.751+245C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|6/13|n.712+245C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|6/12|n.666+1123C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|6/11|n.672+1123C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|6/12|n.672+1123C>T||||||,A|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000467596|retained_intron|6/6|n.2594C>T||||||,A|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron|5/5|n.5025C>T||||||,A|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|10/10|n.*443C>T|||||| 22 30688540 . G C . . ANN=C|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding|9/9|c.1372C>G|p.Pro458Ala|1392/1950|1372/1548|458/515||,C|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding|9/9|c.1351C>G|p.Pro451Ala|1516/2077|1351/1527|451/508||,C|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding|9/9|c.1087C>G|p.Pro363Ala|1290/1833|1087/1263|363/420||,C|3_prime_UTR_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|10/10|n.*420C>G|||||727|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding||c.-131C>G|||||2924|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding||c.-111C>G|||||2944|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay||n.-73C>G|||||2982|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay||n.-126C>G|||||2929|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron||n.-1C>G|||||3020|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay||n.-9C>G|||||3046|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay||n.-44C>G|||||3011|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron||n.-1C>G|||||3020|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron||n.-1C>G|||||3005|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron||n.-1C>G|||||3372|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay||n.-3C>G|||||3055|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000464854|processed_transcript||n.-1C>G|||||4601|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript||n.-1C>G|||||3005|,C|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000466666|retained_intron||n.*651C>G|||||848|,C|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay||n.*354C>G|||||1370|,C|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000393906|protein_coding||c.*578C>G|||||1538|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|7/12|c.751+222C>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|6/13|n.712+222C>G||||||,C|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|6/12|n.666+1100C>G||||||,C|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|6/11|n.672+1100C>G||||||,C|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|6/12|n.672+1100C>G||||||,C|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000467596|retained_intron|6/6|n.2571C>G||||||,C|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron|5/5|n.5002C>G||||||,C|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|10/10|n.*420C>G|||||| 22 30688548 . G A . . ANN=A|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding|9/9|c.1364C>T|p.Pro455Leu|1384/1950|1364/1548|455/515||,A|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding|9/9|c.1343C>T|p.Pro448Leu|1508/2077|1343/1527|448/508||,A|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding|9/9|c.1079C>T|p.Pro360Leu|1282/1833|1079/1263|360/420||,A|3_prime_UTR_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|10/10|n.*412C>T|||||719|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding||c.-131C>T|||||2932|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding||c.-111C>T|||||2952|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay||n.-73C>T|||||2990|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay||n.-126C>T|||||2937|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron||n.-1C>T|||||3028|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay||n.-9C>T|||||3054|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay||n.-44C>T|||||3019|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron||n.-1C>T|||||3028|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron||n.-1C>T|||||3013|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron||n.-1C>T|||||3380|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay||n.-3C>T|||||3063|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000464854|processed_transcript||n.-1C>T|||||4609|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript||n.-1C>T|||||3013|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000466666|retained_intron||n.*651C>T|||||840|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay||n.*354C>T|||||1362|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000393906|protein_coding||c.*578C>T|||||1530|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|7/12|c.751+214C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|6/13|n.712+214C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|6/12|n.666+1092C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|6/11|n.672+1092C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|6/12|n.672+1092C>T||||||,A|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000467596|retained_intron|6/6|n.2563C>T||||||,A|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron|5/5|n.4994C>T||||||,A|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|10/10|n.*412C>T|||||| 22 30688602 . T C . . ANN=C|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding|9/9|c.1310A>G|p.Gln437Arg|1330/1950|1310/1548|437/515||,C|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding|9/9|c.1289A>G|p.Gln430Arg|1454/2077|1289/1527|430/508||,C|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding|9/9|c.1025A>G|p.Gln342Arg|1228/1833|1025/1263|342/420||,C|3_prime_UTR_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|10/10|n.*358A>G|||||665|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding||c.-131A>G|||||2986|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding||c.-111A>G|||||3006|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay||n.-73A>G|||||3044|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay||n.-126A>G|||||2991|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron||n.-1A>G|||||3082|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay||n.-9A>G|||||3108|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay||n.-44A>G|||||3073|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron||n.-1A>G|||||3082|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron||n.-1A>G|||||3067|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron||n.-1A>G|||||3434|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay||n.-3A>G|||||3117|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000464854|processed_transcript||n.-1A>G|||||4663|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript||n.-1A>G|||||3067|,C|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000466666|retained_intron||n.*651A>G|||||786|,C|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay||n.*354A>G|||||1308|,C|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000393906|protein_coding||c.*578A>G|||||1476|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|7/12|c.751+160A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|6/13|n.712+160A>G||||||,C|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|6/12|n.666+1038A>G||||||,C|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|6/11|n.672+1038A>G||||||,C|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|6/12|n.672+1038A>G||||||,C|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000467596|retained_intron|6/6|n.2509A>G||||||,C|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron|5/5|n.4940A>G||||||,C|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|10/10|n.*358A>G|||||| 22 30688611 . G C . . ANN=C|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding|9/9|c.1301C>G|p.Pro434Arg|1321/1950|1301/1548|434/515||,C|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding|9/9|c.1280C>G|p.Pro427Arg|1445/2077|1280/1527|427/508||,C|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding|9/9|c.1016C>G|p.Pro339Arg|1219/1833|1016/1263|339/420||,C|3_prime_UTR_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|10/10|n.*349C>G|||||656|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding||c.-131C>G|||||2995|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding||c.-111C>G|||||3015|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay||n.-73C>G|||||3053|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay||n.-126C>G|||||3000|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron||n.-1C>G|||||3091|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay||n.-9C>G|||||3117|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay||n.-44C>G|||||3082|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron||n.-1C>G|||||3091|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron||n.-1C>G|||||3076|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron||n.-1C>G|||||3443|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay||n.-3C>G|||||3126|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000464854|processed_transcript||n.-1C>G|||||4672|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript||n.-1C>G|||||3076|,C|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000466666|retained_intron||n.*651C>G|||||777|,C|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay||n.*354C>G|||||1299|,C|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000393906|protein_coding||c.*578C>G|||||1467|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|7/12|c.751+151C>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|6/13|n.712+151C>G||||||,C|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|6/12|n.666+1029C>G||||||,C|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|6/11|n.672+1029C>G||||||,C|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|6/12|n.672+1029C>G||||||,C|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000467596|retained_intron|6/6|n.2500C>G||||||,C|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron|5/5|n.4931C>G||||||,C|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|10/10|n.*349C>G|||||| 22 30688659 . C T . . ANN=T|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding|9/9|c.1253G>A|p.Arg418His|1273/1950|1253/1548|418/515||,T|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding|9/9|c.1232G>A|p.Arg411His|1397/2077|1232/1527|411/508||,T|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding|9/9|c.968G>A|p.Arg323His|1171/1833|968/1263|323/420||,T|3_prime_UTR_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|10/10|n.*301G>A|||||608|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding||c.-131G>A|||||3043|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding||c.-111G>A|||||3063|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay||n.-73G>A|||||3101|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay||n.-126G>A|||||3048|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron||n.-1G>A|||||3139|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay||n.-9G>A|||||3165|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay||n.-44G>A|||||3130|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron||n.-1G>A|||||3139|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron||n.-1G>A|||||3124|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron||n.-1G>A|||||3491|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay||n.-3G>A|||||3174|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000464854|processed_transcript||n.-1G>A|||||4720|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript||n.-1G>A|||||3124|,T|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000466666|retained_intron||n.*651G>A|||||729|,T|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay||n.*354G>A|||||1251|,T|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000393906|protein_coding||c.*578G>A|||||1419|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|7/12|c.751+103G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|6/13|n.712+103G>A||||||,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|6/12|n.666+981G>A||||||,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|6/11|n.672+981G>A||||||,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|6/12|n.672+981G>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000467596|retained_intron|6/6|n.2452G>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron|5/5|n.4883G>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|10/10|n.*301G>A|||||| 22 30688689 . C T . . ANN=T|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding|9/9|c.1223G>A|p.Arg408Gln|1243/1950|1223/1548|408/515||,T|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding|9/9|c.1202G>A|p.Arg401Gln|1367/2077|1202/1527|401/508||,T|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding|9/9|c.938G>A|p.Arg313Gln|1141/1833|938/1263|313/420||,T|3_prime_UTR_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|10/10|n.*271G>A|||||578|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding||c.-131G>A|||||3073|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding||c.-111G>A|||||3093|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay||n.-73G>A|||||3131|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay||n.-126G>A|||||3078|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron||n.-1G>A|||||3169|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay||n.-9G>A|||||3195|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay||n.-44G>A|||||3160|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron||n.-1G>A|||||3169|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron||n.-1G>A|||||3154|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron||n.-1G>A|||||3521|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay||n.-3G>A|||||3204|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000464854|processed_transcript||n.-1G>A|||||4750|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript||n.-1G>A|||||3154|,T|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000466666|retained_intron||n.*651G>A|||||699|,T|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay||n.*354G>A|||||1221|,T|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000393906|protein_coding||c.*578G>A|||||1389|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|7/12|c.751+73G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|6/13|n.712+73G>A||||||,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|6/12|n.666+951G>A||||||,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|6/11|n.672+951G>A||||||,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|6/12|n.672+951G>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000467596|retained_intron|6/6|n.2422G>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron|5/5|n.4853G>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|10/10|n.*271G>A|||||| 22 30688721 . G A . . ANN=A|synonymous_variant|LOW|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding|9/9|c.1191C>T|p.Ala397Ala|1211/1950|1191/1548|397/515||,A|synonymous_variant|LOW|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding|9/9|c.1170C>T|p.Ala390Ala|1335/2077|1170/1527|390/508||,A|synonymous_variant|LOW|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding|9/9|c.906C>T|p.Ala302Ala|1109/1833|906/1263|302/420||,A|3_prime_UTR_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|10/10|n.*239C>T|||||546|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding||c.-131C>T|||||3105|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding||c.-111C>T|||||3125|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay||n.-73C>T|||||3163|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay||n.-126C>T|||||3110|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron||n.-1C>T|||||3201|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay||n.-9C>T|||||3227|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay||n.-44C>T|||||3192|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron||n.-1C>T|||||3201|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron||n.-1C>T|||||3186|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron||n.-1C>T|||||3553|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay||n.-3C>T|||||3236|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000464854|processed_transcript||n.-1C>T|||||4782|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript||n.-1C>T|||||3186|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000466666|retained_intron||n.*651C>T|||||667|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay||n.*354C>T|||||1189|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000393906|protein_coding||c.*578C>T|||||1357|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|7/12|c.751+41C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|6/13|n.712+41C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|6/12|n.666+919C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|6/11|n.672+919C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|6/12|n.672+919C>T||||||,A|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000467596|retained_intron|6/6|n.2390C>T||||||,A|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron|5/5|n.4821C>T||||||,A|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|10/10|n.*239C>T|||||| 22 30688808 . A T . . ANN=T|synonymous_variant|LOW|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|7/13|c.705T>A|p.Ile235Ile|705/1818|705/1443|235/480||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding|9/9|c.1104T>A|p.Ile368Ile|1124/1950|1104/1548|368/515||,T|synonymous_variant|LOW|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding|9/9|c.1083T>A|p.Ile361Ile|1248/2077|1083/1527|361/508||,T|synonymous_variant|LOW|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding|9/9|c.819T>A|p.Ile273Ile|1022/1833|819/1263|273/420||,T|3_prime_UTR_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|10/10|n.*152T>A|||||459|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding||c.-131T>A|||||3192|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding||c.-111T>A|||||3212|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay||n.-73T>A|||||3250|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay||n.-126T>A|||||3197|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron||n.-1T>A|||||3288|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay||n.-9T>A|||||3314|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay||n.-44T>A|||||3279|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron||n.-1T>A|||||3288|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron||n.-1T>A|||||3273|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron||n.-1T>A|||||3640|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay||n.-3T>A|||||3323|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000464854|processed_transcript||n.-1T>A|||||4869|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript||n.-1T>A|||||3273|,T|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000466666|retained_intron||n.*651T>A|||||580|,T|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay||n.*354T>A|||||1102|,T|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000393906|protein_coding||c.*578T>A|||||1270|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|6/12|n.666+832T>A||||||,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|6/11|n.672+832T>A||||||,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|6/12|n.672+832T>A||||||,T|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|6/14|n.666T>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000467596|retained_intron|6/6|n.2303T>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron|5/5|n.4734T>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|10/10|n.*152T>A|||||| 22 30688827 . G A . . ANN=A|missense_variant|MODERATE|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|7/13|c.686C>T|p.Pro229Leu|686/1818|686/1443|229/480||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding|9/9|c.1085C>T|p.Pro362Leu|1105/1950|1085/1548|362/515||,A|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding|9/9|c.1064C>T|p.Pro355Leu|1229/2077|1064/1527|355/508||,A|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding|9/9|c.800C>T|p.Pro267Leu|1003/1833|800/1263|267/420||,A|3_prime_UTR_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|10/10|n.*133C>T|||||440|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding||c.-131C>T|||||3211|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding||c.-111C>T|||||3231|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay||n.-73C>T|||||3269|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay||n.-126C>T|||||3216|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron||n.-1C>T|||||3307|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay||n.-9C>T|||||3333|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay||n.-44C>T|||||3298|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron||n.-1C>T|||||3307|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron||n.-1C>T|||||3292|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron||n.-1C>T|||||3659|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay||n.-3C>T|||||3342|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000464854|processed_transcript||n.-1C>T|||||4888|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript||n.-1C>T|||||3292|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000466666|retained_intron||n.*651C>T|||||561|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay||n.*354C>T|||||1083|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000393906|protein_coding||c.*578C>T|||||1251|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|6/12|n.666+813C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|6/11|n.672+813C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|6/12|n.672+813C>T||||||,A|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|6/14|n.647C>T||||||,A|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000467596|retained_intron|6/6|n.2284C>T||||||,A|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron|5/5|n.4715C>T||||||,A|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|10/10|n.*133C>T|||||| 22 30689749 . G A . . ANN=A|missense_variant|MODERATE|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|6/13|c.563C>T|p.Ala188Val|563/1818|563/1443|188/480||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding|8/9|c.962C>T|p.Ala321Val|982/1950|962/1548|321/515||,A|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding|8/9|c.941C>T|p.Ala314Val|1106/2077|941/1527|314/508||,A|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding|8/9|c.677C>T|p.Ala226Val|880/1833|677/1263|226/420||,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding||c.-131C>T|||||4133|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding||c.-111C>T|||||4153|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay||n.-73C>T|||||4191|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay||n.-126C>T|||||4138|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron||n.-1C>T|||||4229|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay||n.-9C>T|||||4255|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay||n.-44C>T|||||4220|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron||n.-1C>T|||||4229|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron||n.-1C>T|||||4214|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron||n.-1C>T|||||4581|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay||n.-3C>T|||||4264|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript||n.-1C>T|||||4214|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay||n.*354C>T|||||161|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000393906|protein_coding||c.*578C>T|||||329|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|5/14|n.524C>T||||||,A|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|6/13|n.557C>T||||||,A|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|6/12|n.563C>T||||||,A|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|6/13|n.563C>T||||||,A|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000467596|retained_intron|5/6|n.2161C>T||||||,A|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron|4/5|n.4592C>T||||||,A|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|8/10|n.740C>T||||||,A|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000466666|retained_intron|3/3|n.290C>T|||||| 22 30689892 . C G . . ANN=G|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|3/9|c.916+18G>C||||||,G|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|4/9|c.916+18G>C||||||,G|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|5/9|c.916+18G>C||||||,G|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|6/9|c.916+18G>C||||||,G|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|7/9|c.916+18G>C||||||,G|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|8/9|c.916+18G>C||||||,G|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|3/9|c.895+18G>C||||||,G|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|4/9|c.895+18G>C||||||,G|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|5/9|c.895+18G>C||||||,G|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|6/9|c.895+18G>C||||||,G|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|7/9|c.895+18G>C||||||,G|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|8/9|c.895+18G>C||||||,G|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding||c.-131G>C|||||4276|,G|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding||c.-111G>C|||||4296|,G|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay||n.-73G>C|||||4334|,G|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay||n.-126G>C|||||4281|,G|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron||n.-1G>C|||||4372|,G|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay||n.-9G>C|||||4398|,G|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay||n.-44G>C|||||4363|,G|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron||n.-1G>C|||||4372|,G|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron||n.-1G>C|||||4357|,G|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron||n.-1G>C|||||4724|,G|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay||n.-3G>C|||||4407|,G|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript||n.-1G>C|||||4357|,G|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay||n.*354G>C|||||18|,G|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000393906|protein_coding||c.*578G>C|||||186|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|5/12|c.517+18G>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding|7/8|c.916+18G>C||||||,G|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|4/13|n.478+18G>C||||||,G|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|5/12|n.511+18G>C||||||,G|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|5/11|n.517+18G>C||||||,G|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|5/12|n.517+18G>C||||||,G|intron_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding|7/8|c.895+18G>C||||||,G|intron_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000467596|retained_intron|4/5|n.2115+18G>C||||||,G|intron_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding|7/8|c.631+18G>C||||||,G|intron_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|7/9|n.694+18G>C||||||,G|intron_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000466666|retained_intron|2/2|n.244+18G>C||||||,G|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron|4/5|n.4449G>C|||||| 22 30689998 . G A . . ANN=A|synonymous_variant|LOW|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|5/13|c.429C>T|p.Leu143Leu|429/1818|429/1443|143/480||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding|7/9|c.828C>T|p.Leu276Leu|848/1950|828/1548|276/515||,A|synonymous_variant|LOW|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding|7/9|c.807C>T|p.Leu269Leu|972/2077|807/1527|269/508||,A|synonymous_variant|LOW|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding|7/9|c.543C>T|p.Leu181Leu|746/1833|543/1263|181/420||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|3/9|c.828C>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|4/9|c.828C>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|5/9|c.828C>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|6/9|c.828C>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|7/9|c.828C>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|8/9|c.828C>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|3/9|c.807C>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|4/9|c.807C>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|5/9|c.807C>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|6/9|c.807C>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|7/9|c.807C>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|8/9|c.807C>T||||||,A|3_prime_UTR_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay|6/6|n.*419C>T|||||5464|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding||c.-131C>T|||||4382|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding||c.-111C>T|||||4402|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay||n.-73C>T|||||4440|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay||n.-126C>T|||||4387|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron||n.-1C>T|||||4478|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay||n.-9C>T|||||4504|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay||n.-44C>T|||||4469|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron||n.-1C>T|||||4478|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron||n.-1C>T|||||4463|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron||n.-1C>T|||||4830|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay||n.-3C>T|||||4513|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript||n.-1C>T|||||4463|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000393906|protein_coding||c.*578C>T|||||80|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|4/14|n.390C>T||||||,A|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|5/13|n.423C>T||||||,A|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|5/12|n.429C>T||||||,A|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|5/13|n.429C>T||||||,A|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000467596|retained_intron|4/6|n.2027C>T||||||,A|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron|4/5|n.4343C>T||||||,A|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|7/10|n.606C>T||||||,A|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000466666|retained_intron|2/3|n.156C>T||||||,A|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay|6/6|n.*419C>T|||||| 22 30690020 . C T . . ANN=T|missense_variant|MODERATE|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|5/13|c.407G>A|p.Arg136His|407/1818|407/1443|136/480||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding|7/9|c.806G>A|p.Arg269His|826/1950|806/1548|269/515||,T|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding|7/9|c.785G>A|p.Arg262His|950/2077|785/1527|262/508||,T|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding|7/9|c.521G>A|p.Arg174His|724/1833|521/1263|174/420||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|3/9|c.806G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|4/9|c.806G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|5/9|c.806G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|6/9|c.806G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|7/9|c.806G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|8/9|c.806G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|3/9|c.785G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|4/9|c.785G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|5/9|c.785G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|6/9|c.785G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|7/9|c.785G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|8/9|c.785G>A||||||,T|3_prime_UTR_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay|6/6|n.*397G>A|||||5442|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding||c.-131G>A|||||4404|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding||c.-111G>A|||||4424|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay||n.-73G>A|||||4462|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay||n.-126G>A|||||4409|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron||n.-1G>A|||||4500|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay||n.-9G>A|||||4526|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay||n.-44G>A|||||4491|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron||n.-1G>A|||||4500|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron||n.-1G>A|||||4485|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron||n.-1G>A|||||4852|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay||n.-3G>A|||||4535|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript||n.-1G>A|||||4485|,T|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000393906|protein_coding||c.*578G>A|||||58|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|4/14|n.368G>A||||||,T|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|5/13|n.401G>A||||||,T|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|5/12|n.407G>A||||||,T|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|5/13|n.407G>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000467596|retained_intron|4/6|n.2005G>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron|4/5|n.4321G>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|7/10|n.584G>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000466666|retained_intron|2/3|n.134G>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay|6/6|n.*397G>A|||||| 22 30690082 . G A . . ANN=A|synonymous_variant|LOW|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|5/13|c.345C>T|p.Asp115Asp|345/1818|345/1443|115/480||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding|7/9|c.744C>T|p.Asp248Asp|764/1950|744/1548|248/515||,A|synonymous_variant|LOW|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding|7/9|c.723C>T|p.Asp241Asp|888/2077|723/1527|241/508||,A|synonymous_variant|LOW|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding|7/9|c.459C>T|p.Asp153Asp|662/1833|459/1263|153/420||,A|synonymous_variant|LOW|TBC1D10A|ENSG00000099992|transcript|ENST00000393906|protein_coding|7/7|c.459C>T|p.Asp153Asp|574/578|459/463|153/153||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|3/9|c.744C>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|4/9|c.744C>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|5/9|c.744C>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|6/9|c.744C>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|7/9|c.744C>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|8/9|c.744C>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|3/9|c.723C>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|4/9|c.723C>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|5/9|c.723C>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|6/9|c.723C>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|7/9|c.723C>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|8/9|c.723C>T||||||,A|3_prime_UTR_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay|6/6|n.*335C>T|||||5380|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding||c.-131C>T|||||4466|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding||c.-111C>T|||||4486|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay||n.-73C>T|||||4524|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay||n.-126C>T|||||4471|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron||n.-1C>T|||||4562|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay||n.-9C>T|||||4588|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay||n.-44C>T|||||4553|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron||n.-1C>T|||||4562|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron||n.-1C>T|||||4547|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron||n.-1C>T|||||4914|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay||n.-3C>T|||||4597|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript||n.-1C>T|||||4547|,A|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|4/14|n.306C>T||||||,A|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|5/13|n.339C>T||||||,A|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|5/12|n.345C>T||||||,A|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|5/13|n.345C>T||||||,A|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000467596|retained_intron|4/6|n.1943C>T||||||,A|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron|4/5|n.4259C>T||||||,A|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|7/10|n.522C>T||||||,A|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000466666|retained_intron|2/3|n.72C>T||||||,A|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay|6/6|n.*335C>T|||||| 22 30690109 . C T . . ANN=T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|3/9|c.727-10G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|4/9|c.727-10G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|5/9|c.727-10G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|6/9|c.727-10G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|7/9|c.727-10G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|8/9|c.727-10G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|3/9|c.706-10G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|4/9|c.706-10G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|5/9|c.706-10G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|6/9|c.706-10G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|7/9|c.706-10G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|8/9|c.706-10G>A||||||,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding||c.-131G>A|||||4493|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding||c.-111G>A|||||4513|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay||n.-73G>A|||||4551|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay||n.-126G>A|||||4498|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron||n.-1G>A|||||4589|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay||n.-9G>A|||||4615|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay||n.-44G>A|||||4580|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron||n.-1G>A|||||4589|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron||n.-1G>A|||||4574|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron||n.-1G>A|||||4941|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay||n.-3G>A|||||4624|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript||n.-1G>A|||||4574|,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|4/12|c.328-10G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding|6/8|c.727-10G>A||||||,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|3/13|n.289-10G>A||||||,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|4/12|n.322-10G>A||||||,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|4/11|n.328-10G>A||||||,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|4/12|n.328-10G>A||||||,T|intron_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding|6/8|c.706-10G>A||||||,T|intron_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000467596|retained_intron|3/5|n.1926-10G>A||||||,T|intron_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron|3/4|n.4242-10G>A||||||,T|intron_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding|6/8|c.442-10G>A||||||,T|intron_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|6/9|n.505-10G>A||||||,T|intron_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000466666|retained_intron|1/2|n.55-10G>A||||||,T|intron_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay|5/5|n.*318-10G>A||||||,T|intron_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000393906|protein_coding|6/6|c.442-10G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 30690794 . G A . . ANN=A|synonymous_variant|LOW|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|4/13|c.318C>T|p.Ser106Ser|318/1818|318/1443|106/480||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding|6/9|c.717C>T|p.Ser239Ser|737/1950|717/1548|239/515||,A|synonymous_variant|LOW|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding|6/9|c.696C>T|p.Ser232Ser|861/2077|696/1527|232/508||,A|synonymous_variant|LOW|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding|6/9|c.432C>T|p.Ser144Ser|635/1833|432/1263|144/420||,A|synonymous_variant|LOW|TBC1D10A|ENSG00000099992|transcript|ENST00000393906|protein_coding|6/7|c.432C>T|p.Ser144Ser|547/578|432/463|144/153||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|3/9|c.717C>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|4/9|c.717C>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|5/9|c.717C>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|6/9|c.717C>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|7/9|c.717C>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|8/9|c.717C>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|3/9|c.696C>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|4/9|c.696C>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|5/9|c.696C>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|6/9|c.696C>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|7/9|c.696C>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|8/9|c.696C>T||||||,A|3_prime_UTR_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay|5/6|n.*308C>T|||||4668|,A|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|3/14|n.279C>T||||||,A|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|4/13|n.312C>T||||||,A|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|4/12|n.318C>T||||||,A|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|4/13|n.318C>T||||||,A|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000467596|retained_intron|3/6|n.1916C>T||||||,A|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron|3/5|n.4232C>T||||||,A|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|6/10|n.495C>T||||||,A|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000466666|retained_intron|1/3|n.45C>T||||||,A|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay|5/6|n.*308C>T|||||| 22 30690805 . C T . . ANN=T|missense_variant|MODERATE|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|4/13|c.307G>A|p.Gly103Ser|307/1818|307/1443|103/480||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding|6/9|c.706G>A|p.Gly236Ser|726/1950|706/1548|236/515||,T|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding|6/9|c.685G>A|p.Gly229Ser|850/2077|685/1527|229/508||,T|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding|6/9|c.421G>A|p.Gly141Ser|624/1833|421/1263|141/420||,T|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000393906|protein_coding|6/7|c.421G>A|p.Gly141Ser|536/578|421/463|141/153||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|3/9|c.706G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|4/9|c.706G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|5/9|c.706G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|6/9|c.706G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|7/9|c.706G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|8/9|c.706G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|3/9|c.685G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|4/9|c.685G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|5/9|c.685G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|6/9|c.685G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|7/9|c.685G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|8/9|c.685G>A||||||,T|3_prime_UTR_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay|5/6|n.*297G>A|||||4657|,T|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|3/14|n.268G>A||||||,T|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|4/13|n.301G>A||||||,T|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|4/12|n.307G>A||||||,T|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|4/13|n.307G>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000467596|retained_intron|3/6|n.1905G>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron|3/5|n.4221G>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|6/10|n.484G>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000466666|retained_intron|1/3|n.34G>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay|5/6|n.*297G>A|||||| 22 30690904 . C A . . ANN=A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|3/9|c.660+26G>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|4/9|c.660+26G>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|5/9|c.660+26G>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|6/9|c.660+26G>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|7/9|c.660+26G>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|8/9|c.660+26G>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|3/9|c.639+26G>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|4/9|c.639+26G>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|5/9|c.639+26G>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|6/9|c.639+26G>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|7/9|c.639+26G>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|8/9|c.639+26G>T||||||,A|upstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000466666|retained_intron||n.-1G>T|||||66|,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|3/12|c.261+26G>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding|5/8|c.660+26G>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|2/13|n.222+26G>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|3/12|n.255+26G>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|3/11|n.261+26G>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|3/12|n.261+26G>T||||||,A|intron_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding|5/8|c.639+26G>T||||||,A|intron_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000467596|retained_intron|2/5|n.1859+26G>T||||||,A|intron_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron|2/4|n.4175+26G>T||||||,A|intron_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding|5/8|c.375+26G>T||||||,A|intron_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|5/9|n.438+26G>T||||||,A|intron_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay|4/5|n.*251+26G>T||||||,A|intron_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000393906|protein_coding|5/6|c.375+26G>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 30690945 . C T . . ANN=T|missense_variant|MODERATE|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|3/13|c.246G>A|p.Met82Ile|246/1818|246/1443|82/480||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding|5/9|c.645G>A|p.Met215Ile|665/1950|645/1548|215/515||,T|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding|5/9|c.624G>A|p.Met208Ile|789/2077|624/1527|208/508||,T|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding|5/9|c.360G>A|p.Met120Ile|563/1833|360/1263|120/420||,T|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000393906|protein_coding|5/7|c.360G>A|p.Met120Ile|475/578|360/463|120/153||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|3/9|c.645G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|4/9|c.645G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|5/9|c.645G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|6/9|c.645G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|7/9|c.645G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|8/9|c.645G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|3/9|c.624G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|4/9|c.624G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|5/9|c.624G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|6/9|c.624G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|7/9|c.624G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|8/9|c.624G>A||||||,T|3_prime_UTR_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay|4/6|n.*236G>A|||||4517|,T|upstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000466666|retained_intron||n.-1G>A|||||107|,T|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|2/14|n.207G>A||||||,T|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|3/13|n.240G>A||||||,T|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|3/12|n.246G>A||||||,T|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|3/13|n.246G>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000467596|retained_intron|2/6|n.1844G>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron|2/5|n.4160G>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|5/10|n.423G>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay|4/6|n.*236G>A|||||| 22 30695398 . G A . . ANN=A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|3/9|c.438+35C>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|4/9|c.438+35C>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|5/9|c.438+35C>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|6/9|c.438+35C>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|7/9|c.438+35C>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|8/9|c.438+35C>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|3/9|c.417+35C>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|4/9|c.417+35C>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|5/9|c.417+35C>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|6/9|c.417+35C>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|7/9|c.417+35C>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|8/9|c.417+35C>T||||||,A|upstream_gene_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay||n.-1C>T|||||3566|,A|upstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000467596|retained_intron||n.-1C>T|||||1929|,A|upstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000466666|retained_intron||n.-1C>T|||||4560|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000490449|processed_transcript||n.*520C>T|||||1062|,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|1/12|c.39+35C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding|3/8|c.438+35C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|1/12|n.33+35C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|1/11|n.39+35C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|1/12|n.39+35C>T||||||,A|intron_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding|3/8|c.417+35C>T||||||,A|intron_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding|3/8|c.153+35C>T||||||,A|intron_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|3/9|n.216+35C>T||||||,A|intron_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay|2/5|n.*29+35C>T||||||,A|intron_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000393906|protein_coding|3/6|c.153+35C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron|1/5|n.388C>T|||||| 22 30695423 . G A . . ANN=A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|3/9|c.438+10C>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|4/9|c.438+10C>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|5/9|c.438+10C>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|6/9|c.438+10C>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|7/9|c.438+10C>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|8/9|c.438+10C>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|3/9|c.417+10C>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|4/9|c.417+10C>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|5/9|c.417+10C>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|6/9|c.417+10C>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|7/9|c.417+10C>T||||||,A|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|8/9|c.417+10C>T||||||,A|upstream_gene_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay||n.-1C>T|||||3591|,A|upstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000467596|retained_intron||n.-1C>T|||||1954|,A|upstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000466666|retained_intron||n.-1C>T|||||4585|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000490449|processed_transcript||n.*520C>T|||||1037|,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|1/12|c.39+10C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding|3/8|c.438+10C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|1/12|n.33+10C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|1/11|n.39+10C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|1/12|n.39+10C>T||||||,A|intron_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding|3/8|c.417+10C>T||||||,A|intron_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding|3/8|c.153+10C>T||||||,A|intron_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|3/9|n.216+10C>T||||||,A|intron_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay|2/5|n.*29+10C>T||||||,A|intron_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000393906|protein_coding|3/6|c.153+10C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron|1/5|n.363C>T|||||| 22 30695449 . T C . . ANN=C|missense_variant|MODERATE|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|1/13|c.23A>G|p.Asn8Ser|23/1818|23/1443|8/480||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding|3/9|c.422A>G|p.Asn141Ser|442/1950|422/1548|141/515||,C|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding|3/9|c.401A>G|p.Asn134Ser|566/2077|401/1527|134/508||,C|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding|3/9|c.137A>G|p.Asn46Ser|340/1833|137/1263|46/420||,C|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000393906|protein_coding|3/7|c.137A>G|p.Asn46Ser|252/578|137/463|46/153||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|3/9|c.422A>G||||||,C|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|4/9|c.422A>G||||||,C|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|5/9|c.422A>G||||||,C|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|6/9|c.422A>G||||||,C|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|7/9|c.422A>G||||||,C|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|8/9|c.422A>G||||||,C|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|3/9|c.401A>G||||||,C|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|4/9|c.401A>G||||||,C|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|5/9|c.401A>G||||||,C|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|6/9|c.401A>G||||||,C|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|7/9|c.401A>G||||||,C|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|8/9|c.401A>G||||||,C|3_prime_UTR_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay|2/6|n.*13A>G|||||13|,C|upstream_gene_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay||n.-1A>G|||||3617|,C|upstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000467596|retained_intron||n.-1A>G|||||1980|,C|upstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000466666|retained_intron||n.-1A>G|||||4611|,C|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000490449|processed_transcript||n.*520A>G|||||1011|,C|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|1/13|n.17A>G||||||,C|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|1/12|n.23A>G||||||,C|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|1/13|n.23A>G||||||,C|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron|1/5|n.337A>G||||||,C|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|3/10|n.200A>G||||||,C|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay|2/6|n.*13A>G|||||| 22 30695459 . A T . . ANN=T|missense_variant|MODERATE|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|1/13|c.13T>A|p.Leu5Ile|13/1818|13/1443|5/480||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding|3/9|c.412T>A|p.Leu138Ile|432/1950|412/1548|138/515||,T|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding|3/9|c.391T>A|p.Leu131Ile|556/2077|391/1527|131/508||,T|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding|3/9|c.127T>A|p.Leu43Ile|330/1833|127/1263|43/420||,T|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000393906|protein_coding|3/7|c.127T>A|p.Leu43Ile|242/578|127/463|43/153||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|3/9|c.412T>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|4/9|c.412T>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|5/9|c.412T>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|6/9|c.412T>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|7/9|c.412T>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|8/9|c.412T>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|3/9|c.391T>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|4/9|c.391T>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|5/9|c.391T>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|6/9|c.391T>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|7/9|c.391T>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|8/9|c.391T>A||||||,T|3_prime_UTR_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay|2/6|n.*3T>A|||||3|,T|upstream_gene_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay||n.-1T>A|||||3627|,T|upstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000467596|retained_intron||n.-1T>A|||||1990|,T|upstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000466666|retained_intron||n.-1T>A|||||4621|,T|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000490449|processed_transcript||n.*520T>A|||||1001|,T|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|1/13|n.7T>A||||||,T|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|1/12|n.13T>A||||||,T|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|1/13|n.13T>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron|1/5|n.327T>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|3/10|n.190T>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay|2/6|n.*3T>A|||||| 22 30700607 . T G . . ANN=G|synonymous_variant|LOW|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding|2/9|c.243A>C|p.Val81Val|263/1950|243/1548|81/515||,G|synonymous_variant|LOW|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding|2/9|c.222A>C|p.Val74Val|387/2077|222/1527|74/508||,G|5_prime_UTR_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding|2/9|c.-43A>C|||||43|,G|5_prime_UTR_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000393906|protein_coding|2/7|c.-43A>C|||||43|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron||n.-1A>C|||||4822|,G|intron_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay|1/5|n.210-5067A>C||||||,G|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|2/10|n.21A>C||||||,G|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000490449|processed_transcript|2/3|n.242A>C|||||| 22 30700657 . G A . . ANN=A|upstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron||n.-1C>T|||||4872|,A|intron_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding|1/8|c.210-17C>T||||||,A|intron_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding|1/8|c.210-38C>T||||||,A|intron_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding|1/8|c.-55-38C>T||||||,A|intron_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|1/9|n.9-38C>T||||||,A|intron_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay|1/5|n.210-5117C>T||||||,A|intron_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000393906|protein_coding|1/6|c.-55-38C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000490449|processed_transcript|1/2|n.230-38C>T|||||| 22 30700669 . C T . . ANN=T|upstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron||n.-1G>A|||||4884|,T|intron_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding|1/8|c.210-29G>A||||||,T|intron_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding|1/8|c.210-50G>A||||||,T|intron_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding|1/8|c.-55-50G>A||||||,T|intron_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|1/9|n.9-50G>A||||||,T|intron_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay|1/5|n.210-5129G>A||||||,T|intron_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000393906|protein_coding|1/6|c.-55-50G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000490449|processed_transcript|1/2|n.230-50G>A|||||| 22 30722834 . G T . . ANN=T|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding|1/9|c.37C>A|p.Pro13Thr|57/1950|37/1548|13/515||,T|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding|1/9|c.37C>A|p.Pro13Thr|202/2077|37/1527|13/508||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay|1/6|n.37C>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000490449|processed_transcript|1/3|n.57C>A|||||| 22 30730541 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|16/16|c.*42C>T|||||42|,A|3_prime_UTR_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|16/16|c.*42C>T|||||42|,A|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay||n.*209C>T|||||3249|,A|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000444440|protein_coding||c.*777C>T|||||3265|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000485618|retained_intron||n.*593C>T|||||4288|,A|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000498259|retained_intron||n.*875C>T|||||4409| 22 30730572 . G T . . ANN=T|3_prime_UTR_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|16/16|c.*11C>A|||||11|,T|3_prime_UTR_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|16/16|c.*11C>A|||||11|,T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay||n.*209C>A|||||3218|,T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000444440|protein_coding||c.*777C>A|||||3234|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000485618|retained_intron||n.*593C>A|||||4257|,T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000498259|retained_intron||n.*875C>A|||||4378| 22 30730701 . G A . . ANN=A|sequence_feature|LOW|SF3A1|ENSG00000099995|domain:Ubiquitin-like|ENST00000215793|protein_coding|14/16|c.2281-17C>T||||||,A|sequence_feature|LOW|SF3A1|ENSG00000099995|domain:Ubiquitin-like|ENST00000215793|protein_coding|15/16|c.2281-17C>T||||||,A|sequence_feature|LOW|SF3A1|ENSG00000099995|domain:Ubiquitin-like|ENST00000215793|protein_coding|16/16|c.2281-17C>T||||||,A|sequence_feature|LOW|SF3A1|ENSG00000099995|domain:Ubiquitin-like|ENST00000439242|protein_coding|16/16|c.2086-17C>T||||||,A|sequence_feature|LOW|SF3A1|ENSG00000099995|domain:Ubiquitin-like|ENST00000439242|protein_coding|14/16|c.2086-17C>T||||||,A|sequence_feature|LOW|SF3A1|ENSG00000099995|domain:Ubiquitin-like|ENST00000439242|protein_coding|15/16|c.2086-17C>T||||||,A|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay||n.*209C>T|||||3089|,A|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000444440|protein_coding||c.*777C>T|||||3105|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000485618|retained_intron||n.*593C>T|||||4128|,A|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000498259|retained_intron||n.*875C>T|||||4249|,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|15/15|c.2281-17C>T||||||,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|15/15|c.2086-17C>T|||||| 22 30730711 . A G . . ANN=G|sequence_feature|LOW|SF3A1|ENSG00000099995|domain:Ubiquitin-like|ENST00000215793|protein_coding|14/16|c.2281-27T>C||||||,G|sequence_feature|LOW|SF3A1|ENSG00000099995|domain:Ubiquitin-like|ENST00000215793|protein_coding|15/16|c.2281-27T>C||||||,G|sequence_feature|LOW|SF3A1|ENSG00000099995|domain:Ubiquitin-like|ENST00000215793|protein_coding|16/16|c.2281-27T>C||||||,G|sequence_feature|LOW|SF3A1|ENSG00000099995|domain:Ubiquitin-like|ENST00000439242|protein_coding|16/16|c.2086-27T>C||||||,G|sequence_feature|LOW|SF3A1|ENSG00000099995|domain:Ubiquitin-like|ENST00000439242|protein_coding|14/16|c.2086-27T>C||||||,G|sequence_feature|LOW|SF3A1|ENSG00000099995|domain:Ubiquitin-like|ENST00000439242|protein_coding|15/16|c.2086-27T>C||||||,G|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay||n.*209T>C|||||3079|,G|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000444440|protein_coding||c.*777T>C|||||3095|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000485618|retained_intron||n.*593T>C|||||4118|,G|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000498259|retained_intron||n.*875T>C|||||4239|,G|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|15/15|c.2281-27T>C||||||,G|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|15/15|c.2086-27T>C|||||| 22 30731610 . A G . . ANN=G|sequence_feature|LOW|SF3A1|ENSG00000099995|domain:Ubiquitin-like|ENST00000215793|protein_coding|14/16|c.2208+31T>C||||||,G|sequence_feature|LOW|SF3A1|ENSG00000099995|domain:Ubiquitin-like|ENST00000215793|protein_coding|15/16|c.2208+31T>C||||||,G|sequence_feature|LOW|SF3A1|ENSG00000099995|domain:Ubiquitin-like|ENST00000215793|protein_coding|16/16|c.2208+31T>C||||||,G|sequence_feature|LOW|SF3A1|ENSG00000099995|domain:Ubiquitin-like|ENST00000439242|protein_coding|16/16|c.2013+31T>C||||||,G|sequence_feature|LOW|SF3A1|ENSG00000099995|domain:Ubiquitin-like|ENST00000439242|protein_coding|14/16|c.2013+31T>C||||||,G|sequence_feature|LOW|SF3A1|ENSG00000099995|domain:Ubiquitin-like|ENST00000439242|protein_coding|15/16|c.2013+31T>C||||||,G|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay||n.*209T>C|||||2180|,G|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000444440|protein_coding||c.*777T>C|||||2196|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000485618|retained_intron||n.*593T>C|||||3219|,G|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000498259|retained_intron||n.*875T>C|||||3340|,G|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|14/15|c.2208+31T>C||||||,G|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|14/15|c.2013+31T>C|||||| 22 30731647 . C T . . ANN=T|synonymous_variant|LOW|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|14/16|c.2202G>A|p.Thr734Thr|2357/5143|2202/2382|734/793||,T|synonymous_variant|LOW|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|14/16|c.2007G>A|p.Thr669Thr|2139/4923|2007/2187|669/728||,T|sequence_feature|LOW|SF3A1|ENSG00000099995|domain:Ubiquitin-like|ENST00000215793|protein_coding|14/16|c.2202G>A||||||,T|sequence_feature|LOW|SF3A1|ENSG00000099995|domain:Ubiquitin-like|ENST00000215793|protein_coding|15/16|c.2202G>A||||||,T|sequence_feature|LOW|SF3A1|ENSG00000099995|domain:Ubiquitin-like|ENST00000215793|protein_coding|16/16|c.2202G>A||||||,T|sequence_feature|LOW|SF3A1|ENSG00000099995|domain:Ubiquitin-like|ENST00000439242|protein_coding|16/16|c.2007G>A||||||,T|sequence_feature|LOW|SF3A1|ENSG00000099995|domain:Ubiquitin-like|ENST00000439242|protein_coding|14/16|c.2007G>A||||||,T|sequence_feature|LOW|SF3A1|ENSG00000099995|domain:Ubiquitin-like|ENST00000439242|protein_coding|15/16|c.2007G>A||||||,T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay||n.*209G>A|||||2143|,T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000444440|protein_coding||c.*777G>A|||||2159|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000485618|retained_intron||n.*593G>A|||||3182|,T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000498259|retained_intron||n.*875G>A|||||3303| 22 30731782 . G A . . ANN=A|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay||n.*209C>T|||||2008|,A|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000444440|protein_coding||c.*777C>T|||||2024|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000485618|retained_intron||n.*593C>T|||||3047|,A|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000498259|retained_intron||n.*875C>T|||||3168|,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|13/15|c.2107-40C>T||||||,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|13/15|c.1912-40C>T|||||| 22 30733111 . C A . . ANN=A|synonymous_variant|LOW|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|13/16|c.2010G>T|p.Val670Val|2165/5143|2010/2382|670/793||,A|synonymous_variant|LOW|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|13/16|c.1815G>T|p.Val605Val|1947/4923|1815/2187|605/728||,A|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay||n.*209G>T|||||679|,A|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000444440|protein_coding||c.*777G>T|||||695|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000485618|retained_intron||n.*593G>T|||||1718|,A|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000498259|retained_intron||n.*875G>T|||||1839| 22 30733761 . C T . . ANN=T|synonymous_variant|LOW|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|12/16|c.1869G>A|p.Ala623Ala|2024/5143|1869/2382|623/793||,T|synonymous_variant|LOW|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|12/16|c.1674G>A|p.Ala558Ala|1806/4923|1674/2187|558/728||,T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay||n.*209G>A|||||29|,T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000444440|protein_coding||c.*777G>A|||||45|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000485618|retained_intron||n.*593G>A|||||1068|,T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000498259|retained_intron||n.*875G>A|||||1189|,T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000447376|nonsense_mediated_decay||n.*319G>A|||||4548|,T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471037|retained_intron||n.*555G>A|||||4775| 22 30733763 . C T . . ANN=T|missense_variant|MODERATE|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|12/16|c.1867G>A|p.Ala623Thr|2022/5143|1867/2382|623/793||,T|missense_variant|MODERATE|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|12/16|c.1672G>A|p.Ala558Thr|1804/4923|1672/2187|558/728||,T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay||n.*209G>A|||||27|,T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000444440|protein_coding||c.*777G>A|||||43|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000485618|retained_intron||n.*593G>A|||||1066|,T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000498259|retained_intron||n.*875G>A|||||1187|,T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000447376|nonsense_mediated_decay||n.*319G>A|||||4546|,T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471037|retained_intron||n.*555G>A|||||4773| 22 30733826 . T C . . ANN=C|missense_variant|MODERATE|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|12/16|c.1804A>G|p.Met602Val|1959/5143|1804/2382|602/793||,C|missense_variant|MODERATE|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|12/16|c.1609A>G|p.Met537Val|1741/4923|1609/2187|537/728||,C|missense_variant|MODERATE|SF3A1|ENSG00000099995|transcript|ENST00000444440|protein_coding|5/5|c.757A>G|p.Met253Val|757/777|757/777|253/258||WARNING_TRANSCRIPT_NO_START_CODON,C|3_prime_UTR_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay|4/4|n.*303A>G|||||1194|,C|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000485618|retained_intron||n.*593A>G|||||1003|,C|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000498259|retained_intron||n.*875A>G|||||1124|,C|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000447376|nonsense_mediated_decay||n.*319A>G|||||4483|,C|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471037|retained_intron||n.*555A>G|||||4710|,C|non_coding_exon_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay|4/4|n.*303A>G|||||| 22 30733854 . G A . . ANN=A|synonymous_variant|LOW|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|12/16|c.1776C>T|p.Ser592Ser|1931/5143|1776/2382|592/793||,A|synonymous_variant|LOW|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|12/16|c.1581C>T|p.Ser527Ser|1713/4923|1581/2187|527/728||,A|synonymous_variant|LOW|SF3A1|ENSG00000099995|transcript|ENST00000444440|protein_coding|5/5|c.729C>T|p.Ser243Ser|729/777|729/777|243/258||WARNING_TRANSCRIPT_NO_START_CODON,A|3_prime_UTR_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay|4/4|n.*275C>T|||||1166|,A|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000485618|retained_intron||n.*593C>T|||||975|,A|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000498259|retained_intron||n.*875C>T|||||1096|,A|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000447376|nonsense_mediated_decay||n.*319C>T|||||4455|,A|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471037|retained_intron||n.*555C>T|||||4682|,A|non_coding_exon_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay|4/4|n.*275C>T|||||| 22 30733914 . C A . . ANN=A|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000485618|retained_intron||n.*593G>T|||||915|,A|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000498259|retained_intron||n.*875G>T|||||1036|,A|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000447376|nonsense_mediated_decay||n.*319G>T|||||4395|,A|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471037|retained_intron||n.*555G>T|||||4622|,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|11/15|c.1744-28G>T||||||,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|11/15|c.1549-28G>T||||||,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay|3/3|n.*243-28G>T||||||,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000444440|protein_coding|4/4|c.697-28G>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 30734739 . G C . . ANN=C|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000485618|retained_intron||n.*593C>G|||||90|,C|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000498259|retained_intron||n.*875C>G|||||211|,C|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000447376|nonsense_mediated_decay||n.*319C>G|||||3570|,C|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471037|retained_intron||n.*555C>G|||||3797|,C|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|11/15|c.1743+39C>G||||||,C|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|11/15|c.1548+39C>G||||||,C|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay|3/3|n.*242+39C>G||||||,C|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000444440|protein_coding|4/4|c.696+39C>G||||||WARNING_TRANSCRIPT_NO_START_CODON 22 30734788 . C T . . ANN=T|missense_variant|MODERATE|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|11/16|c.1733G>A|p.Arg578Gln|1888/5143|1733/2382|578/793||,T|missense_variant|MODERATE|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|11/16|c.1538G>A|p.Arg513Gln|1670/4923|1538/2187|513/728||,T|missense_variant|MODERATE|SF3A1|ENSG00000099995|transcript|ENST00000444440|protein_coding|4/5|c.686G>A|p.Arg229Gln|686/777|686/777|229/258||WARNING_TRANSCRIPT_NO_START_CODON,T|3_prime_UTR_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay|3/4|n.*232G>A|||||232|,T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000485618|retained_intron||n.*593G>A|||||41|,T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000498259|retained_intron||n.*875G>A|||||162|,T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000447376|nonsense_mediated_decay||n.*319G>A|||||3521|,T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471037|retained_intron||n.*555G>A|||||3748|,T|non_coding_exon_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay|3/4|n.*232G>A|||||| 22 30735047 . A G . . ANN=G|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000447376|nonsense_mediated_decay||n.*319T>C|||||3262|,G|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471037|retained_intron||n.*555T>C|||||3489|,G|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|10/15|c.1498-24T>C||||||,G|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|10/15|c.1303-24T>C||||||,G|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay|2/3|n.114-24T>C||||||,G|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000444440|protein_coding|3/4|c.451-24T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000485618|retained_intron|2/2|n.399-24T>C||||||,G|non_coding_exon_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000498259|retained_intron|2/2|n.778T>C|||||| 22 30735079 . C CG . . ANN=G|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000447376|nonsense_mediated_decay||n.*319dupC|||||3229|,G|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471037|retained_intron||n.*555dupC|||||3456|,G|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|10/15|c.1497+39dupC||||||,G|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|10/15|c.1302+39dupC||||||,G|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay|2/3|n.113+39dupC||||||,G|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000444440|protein_coding|3/4|c.451-57dupC||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000485618|retained_intron|2/2|n.398+39dupC||||||,G|non_coding_exon_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000498259|retained_intron|2/2|n.745dupC|||||| 22 30735093 . G A . . ANN=A|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000447376|nonsense_mediated_decay||n.*319C>T|||||3216|,A|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471037|retained_intron||n.*555C>T|||||3443|,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|10/15|c.1497+26C>T||||||,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|10/15|c.1302+26C>T||||||,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay|2/3|n.113+26C>T||||||,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000444440|protein_coding|3/4|c.451-70C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000485618|retained_intron|2/2|n.398+26C>T||||||,A|non_coding_exon_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000498259|retained_intron|2/2|n.732C>T|||||| 22 30735185 . G A . . ANN=A|synonymous_variant|LOW|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|10/16|c.1431C>T|p.Phe477Phe|1586/5143|1431/2382|477/793||,A|synonymous_variant|LOW|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|10/16|c.1236C>T|p.Phe412Phe|1368/4923|1236/2187|412/728||,A|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000447376|nonsense_mediated_decay||n.*319C>T|||||3124|,A|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471037|retained_intron||n.*555C>T|||||3351|,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay|1/3|n.64-17C>T||||||,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000444440|protein_coding|3/4|c.451-162C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000485618|retained_intron|2/3|n.332C>T||||||,A|non_coding_exon_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000498259|retained_intron|2/2|n.640C>T|||||| 22 30736147 . G A . . ANN=A|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000447376|nonsense_mediated_decay||n.*319C>T|||||2162|,A|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471037|retained_intron||n.*555C>T|||||2389|,A|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471342|retained_intron||n.*459C>T|||||4752|,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|9/15|c.1375+38C>T||||||,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|9/15|c.1180+38C>T||||||,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay|1/3|n.64-979C>T||||||,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000444440|protein_coding|3/4|c.450+51C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000485618|retained_intron|1/2|n.276+38C>T||||||,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000498259|retained_intron|1/1|n.584+38C>T|||||| 22 30736176 . C T . . ANN=T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000447376|nonsense_mediated_decay||n.*319G>A|||||2133|,T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471037|retained_intron||n.*555G>A|||||2360|,T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471342|retained_intron||n.*459G>A|||||4723|,T|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|9/15|c.1375+9G>A||||||,T|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|9/15|c.1180+9G>A||||||,T|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay|1/3|n.64-1008G>A||||||,T|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000444440|protein_coding|3/4|c.450+22G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000485618|retained_intron|1/2|n.276+9G>A||||||,T|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000498259|retained_intron|1/1|n.584+9G>A|||||| 22 30736350 . C T . . ANN=T|missense_variant|MODERATE|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|9/16|c.1210G>A|p.Ala404Thr|1365/5143|1210/2382|404/793||,T|missense_variant|MODERATE|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|9/16|c.1015G>A|p.Ala339Thr|1147/4923|1015/2187|339/728||,T|missense_variant|MODERATE|SF3A1|ENSG00000099995|transcript|ENST00000444440|protein_coding|3/5|c.298G>A|p.Ala100Thr|298/777|298/777|100/258||WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000447376|nonsense_mediated_decay||n.*319G>A|||||1959|,T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471037|retained_intron||n.*555G>A|||||2186|,T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471342|retained_intron||n.*459G>A|||||4549|,T|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay|1/3|n.64-1182G>A||||||,T|non_coding_exon_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000485618|retained_intron|1/3|n.111G>A||||||,T|non_coding_exon_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000498259|retained_intron|1/2|n.419G>A|||||| 22 30736416 . C A . . ANN=A|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000447376|nonsense_mediated_decay||n.*319G>T|||||1893|,A|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471037|retained_intron||n.*555G>T|||||2120|,A|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471342|retained_intron||n.*459G>T|||||4483|,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|8/15|c.1190-46G>T||||||,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|8/15|c.995-46G>T||||||,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay|1/3|n.64-1248G>T||||||,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000444440|protein_coding|2/4|c.278-46G>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000485618|retained_intron|1/3|n.45G>T||||||,A|non_coding_exon_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000498259|retained_intron|1/2|n.353G>T|||||| 22 30736835 . G A . . ANN=A|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000485618|retained_intron||n.-1C>T|||||375|,A|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000498259|retained_intron||n.-1C>T|||||67|,A|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000447376|nonsense_mediated_decay||n.*319C>T|||||1474|,A|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471037|retained_intron||n.*555C>T|||||1701|,A|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471342|retained_intron||n.*459C>T|||||4064|,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|7/15|c.1072-34C>T||||||,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|7/15|c.877-34C>T||||||,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay|1/3|n.64-1667C>T||||||,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000444440|protein_coding|1/4|c.160-34C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 30737645 . G GA . . ANN=A|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000485618|retained_intron||n.-1dupT|||||1186|,A|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000498259|retained_intron||n.-1dupT|||||878|,A|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000447376|nonsense_mediated_decay||n.*319dupT|||||663|,A|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471037|retained_intron||n.*555dupT|||||890|,A|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471342|retained_intron||n.*459dupT|||||3253|,A|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000463818|retained_intron||n.*583dupT|||||4564|,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|7/15|c.1071+35dupT||||||,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|7/15|c.876+35dupT||||||,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay|1/3|n.64-2478dupT||||||,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000444440|protein_coding|1/4|c.159+35dupT||||||WARNING_TRANSCRIPT_NO_START_CODON 22 30737668 . C T . . ANN=T|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000485618|retained_intron||n.-1G>A|||||1208|,T|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000498259|retained_intron||n.-1G>A|||||900|,T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000447376|nonsense_mediated_decay||n.*319G>A|||||641|,T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471037|retained_intron||n.*555G>A|||||868|,T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471342|retained_intron||n.*459G>A|||||3231|,T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000463818|retained_intron||n.*583G>A|||||4542|,T|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|7/15|c.1071+13G>A||||||,T|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|7/15|c.876+13G>A||||||,T|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay|1/3|n.64-2500G>A||||||,T|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000444440|protein_coding|1/4|c.159+13G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 30737748 . T C . . ANN=C|missense_variant|MODERATE|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|7/16|c.1004A>G|p.Lys335Arg|1159/5143|1004/2382|335/793||,C|missense_variant|MODERATE|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|7/16|c.809A>G|p.Lys270Arg|941/4923|809/2187|270/728||,C|missense_variant|MODERATE|SF3A1|ENSG00000099995|transcript|ENST00000444440|protein_coding|1/5|c.92A>G|p.Lys31Arg|92/777|92/777|31/258||WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000485618|retained_intron||n.-1A>G|||||1288|,C|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000498259|retained_intron||n.-1A>G|||||980|,C|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000447376|nonsense_mediated_decay||n.*319A>G|||||561|,C|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471037|retained_intron||n.*555A>G|||||788|,C|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471342|retained_intron||n.*459A>G|||||3151|,C|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000463818|retained_intron||n.*583A>G|||||4462|,C|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay|1/3|n.64-2580A>G|||||| 22 30737771 . G T . . ANN=T|synonymous_variant|LOW|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|7/16|c.981C>A|p.Val327Val|1136/5143|981/2382|327/793||,T|synonymous_variant|LOW|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|7/16|c.786C>A|p.Val262Val|918/4923|786/2187|262/728||,T|synonymous_variant|LOW|SF3A1|ENSG00000099995|transcript|ENST00000444440|protein_coding|1/5|c.69C>A|p.Val23Val|69/777|69/777|23/258||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000485618|retained_intron||n.-1C>A|||||1311|,T|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000498259|retained_intron||n.-1C>A|||||1003|,T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000447376|nonsense_mediated_decay||n.*319C>A|||||538|,T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471037|retained_intron||n.*555C>A|||||765|,T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471342|retained_intron||n.*459C>A|||||3128|,T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000463818|retained_intron||n.*583C>A|||||4439|,T|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay|1/3|n.64-2603C>A|||||| 22 30737858 . G A . . ANN=A|synonymous_variant|LOW|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|7/16|c.894C>T|p.Pro298Pro|1049/5143|894/2382|298/793||,A|synonymous_variant|LOW|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|7/16|c.699C>T|p.Pro233Pro|831/4923|699/2187|233/728||,A|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000444440|protein_coding||c.-1C>T|||||19|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000485618|retained_intron||n.-1C>T|||||1398|,A|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000498259|retained_intron||n.-1C>T|||||1090|,A|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000447376|nonsense_mediated_decay||n.*319C>T|||||451|,A|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471037|retained_intron||n.*555C>T|||||678|,A|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471342|retained_intron||n.*459C>T|||||3041|,A|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000463818|retained_intron||n.*583C>T|||||4352|,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay|1/3|n.64-2690C>T|||||| 22 30737881 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|6/15|c.878-7C>T||||||,A|splice_region_variant&intron_variant|LOW|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|6/15|c.683-7C>T||||||,A|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000444440|protein_coding||c.-1C>T|||||42|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000485618|retained_intron||n.-1C>T|||||1421|,A|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000498259|retained_intron||n.-1C>T|||||1113|,A|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000447376|nonsense_mediated_decay||n.*319C>T|||||428|,A|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471037|retained_intron||n.*555C>T|||||655|,A|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471342|retained_intron||n.*459C>T|||||3018|,A|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000463818|retained_intron||n.*583C>T|||||4329|,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay|1/3|n.64-2713C>T|||||| 22 30737919 . AC A . . ANN=|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000444440|protein_coding||c.-1delG|||||81|WARNING_TRANSCRIPT_NO_START_CODON,|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000485618|retained_intron||n.-1delG|||||1460|,|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000498259|retained_intron||n.-1delG|||||1152|,|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000447376|nonsense_mediated_decay||n.*319delG|||||389|,|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471037|retained_intron||n.*555delG|||||616|,|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471342|retained_intron||n.*459delG|||||2979|,|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000463818|retained_intron||n.*583delG|||||4290|,|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|6/15|c.878-46delG||||||,|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|6/15|c.683-46delG||||||,|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay|1/3|n.64-2752delG|||||| 22 30738161 . C T . . ANN=T|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000444440|protein_coding||c.-1G>A|||||322|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000485618|retained_intron||n.-1G>A|||||1701|,T|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000498259|retained_intron||n.-1G>A|||||1393|,T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000447376|nonsense_mediated_decay||n.*319G>A|||||148|,T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471037|retained_intron||n.*555G>A|||||375|,T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471342|retained_intron||n.*459G>A|||||2738|,T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000463818|retained_intron||n.*583G>A|||||4049|,T|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|6/15|c.877+28G>A||||||,T|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|6/15|c.682+28G>A||||||,T|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay|1/3|n.64-2993G>A|||||| 22 30738190 . T C . . ANN=C|splice_region_variant&synonymous_variant|LOW|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|6/16|c.876A>G|p.Gln292Gln|1031/5143|876/2382|292/793||,C|splice_region_variant&synonymous_variant|LOW|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|6/16|c.681A>G|p.Gln227Gln|813/4923|681/2187|227/728||,C|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000444440|protein_coding||c.-1A>G|||||351|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000485618|retained_intron||n.-1A>G|||||1730|,C|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000498259|retained_intron||n.-1A>G|||||1422|,C|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000447376|nonsense_mediated_decay||n.*319A>G|||||119|,C|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471037|retained_intron||n.*555A>G|||||346|,C|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471342|retained_intron||n.*459A>G|||||2709|,C|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000463818|retained_intron||n.*583A>G|||||4020|,C|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay|1/3|n.64-3022A>G|||||| 22 30740914 . C G . . ANN=G|splice_region_variant&intron_variant|LOW|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|4/15|c.651+8G>C||||||,G|splice_region_variant&intron_variant|LOW|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|4/15|c.456+8G>C||||||,G|splice_region_variant&intron_variant|LOW|SF3A1|ENSG00000099995|transcript|ENST00000471037|retained_intron|1/1|n.222+8G>C||||||,G|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000444440|protein_coding||c.-1G>C|||||3075|WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000485618|retained_intron||n.-1G>C|||||4454|,G|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000498259|retained_intron||n.-1G>C|||||4146|,G|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000463818|retained_intron||n.*583G>C|||||1296|,G|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay|1/3|n.64-5746G>C||||||,G|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000447376|nonsense_mediated_decay|2/3|n.186-2046G>C||||||,G|non_coding_exon_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471342|retained_intron|2/2|n.444G>C|||||| 22 30741021 . C T . . ANN=T|synonymous_variant|LOW|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|4/16|c.552G>A|p.Gln184Gln|707/5143|552/2382|184/793||,T|synonymous_variant|LOW|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|4/16|c.357G>A|p.Gln119Gln|489/4923|357/2187|119/728||,T|sequence_feature|LOW|SF3A1|ENSG00000099995|repeat:SURP_motif_2|ENST00000215793|protein_coding|4/16|c.552G>A||||||,T|sequence_feature|LOW|SF3A1|ENSG00000099995|helix|ENST00000215793|protein_coding|4/16|c.552G>A||||||,T|sequence_feature|LOW|SF3A1|ENSG00000099995|helix|ENST00000439242|protein_coding|4/16|c.357G>A||||||,T|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000444440|protein_coding||c.-1G>A|||||3182|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000485618|retained_intron||n.-1G>A|||||4561|,T|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000498259|retained_intron||n.-1G>A|||||4253|,T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000463818|retained_intron||n.*583G>A|||||1189|,T|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay|1/3|n.64-5853G>A||||||,T|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000447376|nonsense_mediated_decay|2/3|n.186-2153G>A||||||,T|non_coding_exon_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471037|retained_intron|1/2|n.123G>A||||||,T|non_coding_exon_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471342|retained_intron|2/2|n.337G>A|||||| 22 30741087 . G A . . ANN=A|synonymous_variant|LOW|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|4/16|c.486C>T|p.Phe162Phe|641/5143|486/2382|162/793||,A|sequence_feature|LOW|SF3A1|ENSG00000099995|helix|ENST00000215793|protein_coding|4/16|c.486C>T||||||,A|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000444440|protein_coding||c.-1C>T|||||3248|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000485618|retained_intron||n.-1C>T|||||4627|,A|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000498259|retained_intron||n.-1C>T|||||4319|,A|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000463818|retained_intron||n.*583C>T|||||1123|,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|3/15|c.322-31C>T||||||,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay|1/3|n.64-5919C>T||||||,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000447376|nonsense_mediated_decay|2/3|n.186-2219C>T||||||,A|non_coding_exon_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471037|retained_intron|1/2|n.57C>T||||||,A|non_coding_exon_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471342|retained_intron|2/2|n.271C>T|||||| 22 30741129 . A G . . ANN=G|synonymous_variant|LOW|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|4/16|c.444T>C|p.Pro148Pro|599/5143|444/2382|148/793||,G|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000444440|protein_coding||c.-1T>C|||||3290|WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000485618|retained_intron||n.-1T>C|||||4669|,G|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000498259|retained_intron||n.-1T>C|||||4361|,G|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000463818|retained_intron||n.*583T>C|||||1081|,G|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|3/15|c.322-73T>C||||||,G|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay|1/3|n.64-5961T>C||||||,G|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000447376|nonsense_mediated_decay|2/3|n.186-2261T>C||||||,G|non_coding_exon_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471037|retained_intron|1/2|n.15T>C||||||,G|non_coding_exon_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471342|retained_intron|2/2|n.229T>C|||||| 22 30741150 . G A,C,T . . ANN=C|missense_variant|MODERATE|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|4/16|c.423C>G|p.Ile141Met|578/5143|423/2382|141/793||,A|synonymous_variant|LOW|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|4/16|c.423C>T|p.Ile141Ile|578/5143|423/2382|141/793||,T|synonymous_variant|LOW|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|4/16|c.423C>A|p.Ile141Ile|578/5143|423/2382|141/793||,A|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000444440|protein_coding||c.-1C>T|||||3311|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000444440|protein_coding||c.-1C>G|||||3311|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000444440|protein_coding||c.-1C>A|||||3311|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000485618|retained_intron||n.-1C>T|||||4690|,C|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000485618|retained_intron||n.-1C>G|||||4690|,T|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000485618|retained_intron||n.-1C>A|||||4690|,A|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000498259|retained_intron||n.-1C>T|||||4382|,C|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000498259|retained_intron||n.-1C>G|||||4382|,T|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000498259|retained_intron||n.-1C>A|||||4382|,A|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471037|retained_intron||n.-1C>T|||||7|,C|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471037|retained_intron||n.-1C>G|||||7|,T|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471037|retained_intron||n.-1C>A|||||7|,A|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000463818|retained_intron||n.*583C>T|||||1060|,C|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000463818|retained_intron||n.*583C>G|||||1060|,T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000463818|retained_intron||n.*583C>A|||||1060|,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|3/15|c.322-94C>T||||||,C|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|3/15|c.322-94C>G||||||,T|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|3/15|c.322-94C>A||||||,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay|1/3|n.64-5982C>T||||||,C|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay|1/3|n.64-5982C>G||||||,T|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay|1/3|n.64-5982C>A||||||,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000447376|nonsense_mediated_decay|2/3|n.186-2282C>T||||||,C|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000447376|nonsense_mediated_decay|2/3|n.186-2282C>G||||||,T|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000447376|nonsense_mediated_decay|2/3|n.186-2282C>A||||||,A|non_coding_exon_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471342|retained_intron|2/2|n.208C>T||||||,C|non_coding_exon_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471342|retained_intron|2/2|n.208C>G||||||,T|non_coding_exon_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471342|retained_intron|2/2|n.208C>A|||||| 22 30742275 . AGTG A . . ANN=|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000444440|protein_coding||c.-1_-1delCAC|||||4437|WARNING_TRANSCRIPT_NO_START_CODON,|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471037|retained_intron||n.-1_-1delCAC|||||1133|,|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|3/15|c.393+23_393+25delCAC||||||,|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|3/15|c.321+95_321+97delCAC||||||,|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay|1/3|n.64-7110_64-7108delCAC||||||,|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000447376|nonsense_mediated_decay|2/3|n.186-3410_186-3408delCAC||||||,|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471342|retained_intron|1/1|n.178+23_178+25delCAC||||||,|non_coding_exon_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000463818|retained_intron|3/3|n.515_517delCAC|||||| 22 30742418 . G T . . ANN=T|synonymous_variant|LOW|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|3/16|c.276C>A|p.Ala92Ala|431/5143|276/2382|92/793||,T|synonymous_variant|LOW|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|3/16|c.276C>A|p.Ala92Ala|408/4923|276/2187|92/728||,T|sequence_feature|LOW|SF3A1|ENSG00000099995|helix|ENST00000215793|protein_coding|3/16|c.276C>A||||||,T|sequence_feature|LOW|SF3A1|ENSG00000099995|repeat:SURP_motif_1|ENST00000215793|protein_coding|3/16|c.276C>A||||||,T|sequence_feature|LOW|SF3A1|ENSG00000099995|repeat:SURP_motif_1|ENST00000215793|protein_coding|2/16|c.276C>A||||||,T|sequence_feature|LOW|SF3A1|ENSG00000099995|helix|ENST00000439242|protein_coding|3/16|c.276C>A||||||,T|sequence_feature|LOW|SF3A1|ENSG00000099995|repeat:SURP_motif_1|ENST00000439242|protein_coding|2/16|c.276C>A||||||,T|sequence_feature|LOW|SF3A1|ENSG00000099995|repeat:SURP_motif_1|ENST00000439242|protein_coding|3/16|c.276C>A||||||,T|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000444440|protein_coding||c.-1C>A|||||4579|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471037|retained_intron||n.-1C>A|||||1275|,T|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay|1/3|n.64-7250C>A||||||,T|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000447376|nonsense_mediated_decay|2/3|n.186-3550C>A||||||,T|non_coding_exon_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471342|retained_intron|1/2|n.61C>A||||||,T|non_coding_exon_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000463818|retained_intron|3/3|n.375C>A|||||| 22 30742434 . T C . . ANN=C|missense_variant|MODERATE|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|3/16|c.260A>G|p.Asn87Ser|415/5143|260/2382|87/793||,C|missense_variant|MODERATE|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|3/16|c.260A>G|p.Asn87Ser|392/4923|260/2187|87/728||,C|sequence_feature|LOW|SF3A1|ENSG00000099995|repeat:SURP_motif_1|ENST00000215793|protein_coding|3/16|c.260A>G||||||,C|sequence_feature|LOW|SF3A1|ENSG00000099995|repeat:SURP_motif_1|ENST00000215793|protein_coding|2/16|c.260A>G||||||,C|sequence_feature|LOW|SF3A1|ENSG00000099995|repeat:SURP_motif_1|ENST00000439242|protein_coding|2/16|c.260A>G||||||,C|sequence_feature|LOW|SF3A1|ENSG00000099995|repeat:SURP_motif_1|ENST00000439242|protein_coding|3/16|c.260A>G||||||,C|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000444440|protein_coding||c.-1A>G|||||4595|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471037|retained_intron||n.-1A>G|||||1291|,C|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay|1/3|n.64-7266A>G||||||,C|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000447376|nonsense_mediated_decay|2/3|n.186-3566A>G||||||,C|non_coding_exon_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471342|retained_intron|1/2|n.45A>G||||||,C|non_coding_exon_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000463818|retained_intron|3/3|n.359A>G|||||| 22 30742468 . T C . . ANN=C|missense_variant|MODERATE|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|3/16|c.226A>G|p.Ile76Val|381/5143|226/2382|76/793||,C|missense_variant|MODERATE|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|3/16|c.226A>G|p.Ile76Val|358/4923|226/2187|76/728||,C|sequence_feature|LOW|SF3A1|ENSG00000099995|repeat:SURP_motif_1|ENST00000215793|protein_coding|3/16|c.226A>G||||||,C|sequence_feature|LOW|SF3A1|ENSG00000099995|repeat:SURP_motif_1|ENST00000215793|protein_coding|2/16|c.226A>G||||||,C|sequence_feature|LOW|SF3A1|ENSG00000099995|repeat:SURP_motif_1|ENST00000439242|protein_coding|2/16|c.226A>G||||||,C|sequence_feature|LOW|SF3A1|ENSG00000099995|repeat:SURP_motif_1|ENST00000439242|protein_coding|3/16|c.226A>G||||||,C|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000444440|protein_coding||c.-1A>G|||||4629|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471037|retained_intron||n.-1A>G|||||1325|,C|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay|1/3|n.64-7300A>G||||||,C|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000447376|nonsense_mediated_decay|2/3|n.186-3600A>G||||||,C|non_coding_exon_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471342|retained_intron|1/2|n.11A>G||||||,C|non_coding_exon_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000463818|retained_intron|3/3|n.325A>G|||||| 22 30742540 . C A . . ANN=A|sequence_feature|LOW|SF3A1|ENSG00000099995|repeat:SURP_motif_1|ENST00000215793|protein_coding|3/16|c.186-32G>T||||||,A|sequence_feature|LOW|SF3A1|ENSG00000099995|repeat:SURP_motif_1|ENST00000215793|protein_coding|2/16|c.186-32G>T||||||,A|sequence_feature|LOW|SF3A1|ENSG00000099995|helix|ENST00000215793|protein_coding|3/16|c.186-32G>T||||||,A|sequence_feature|LOW|SF3A1|ENSG00000099995|helix|ENST00000215793|protein_coding|2/16|c.186-32G>T||||||,A|sequence_feature|LOW|SF3A1|ENSG00000099995|repeat:SURP_motif_1|ENST00000439242|protein_coding|2/16|c.186-32G>T||||||,A|sequence_feature|LOW|SF3A1|ENSG00000099995|repeat:SURP_motif_1|ENST00000439242|protein_coding|3/16|c.186-32G>T||||||,A|sequence_feature|LOW|SF3A1|ENSG00000099995|helix|ENST00000439242|protein_coding|2/16|c.186-32G>T||||||,A|sequence_feature|LOW|SF3A1|ENSG00000099995|helix|ENST00000439242|protein_coding|3/16|c.186-32G>T||||||,A|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000444440|protein_coding||c.-1G>T|||||4701|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471037|retained_intron||n.-1G>T|||||1397|,A|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471342|retained_intron||n.-1G>T|||||62|,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|2/15|c.186-32G>T||||||,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|2/15|c.186-32G>T||||||,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay|1/3|n.64-7372G>T||||||,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000447376|nonsense_mediated_decay|2/3|n.186-3672G>T||||||,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000463818|retained_intron|2/2|n.285-32G>T|||||| 22 30748927 . G A . . ANN=A|sequence_feature|LOW|SF3A1|ENSG00000099995|repeat:SURP_motif_1|ENST00000215793|protein_coding|3/16|c.185+13C>T||||||,A|sequence_feature|LOW|SF3A1|ENSG00000099995|repeat:SURP_motif_1|ENST00000215793|protein_coding|2/16|c.185+13C>T||||||,A|sequence_feature|LOW|SF3A1|ENSG00000099995|helix|ENST00000215793|protein_coding|3/16|c.185+13C>T||||||,A|sequence_feature|LOW|SF3A1|ENSG00000099995|helix|ENST00000215793|protein_coding|2/16|c.185+13C>T||||||,A|sequence_feature|LOW|SF3A1|ENSG00000099995|repeat:SURP_motif_1|ENST00000439242|protein_coding|2/16|c.185+13C>T||||||,A|sequence_feature|LOW|SF3A1|ENSG00000099995|repeat:SURP_motif_1|ENST00000439242|protein_coding|3/16|c.185+13C>T||||||,A|sequence_feature|LOW|SF3A1|ENSG00000099995|helix|ENST00000439242|protein_coding|2/16|c.185+13C>T||||||,A|sequence_feature|LOW|SF3A1|ENSG00000099995|helix|ENST00000439242|protein_coding|3/16|c.185+13C>T||||||,A|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding||c.-661G>A|||||3700|,A|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000399824|protein_coding||c.-664G>A|||||3697|,A|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding||c.-710G>A|||||3697|,A|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding||c.-144G>A|||||4063|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding||c.-292G>A|||||4069|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron||n.-1G>A|||||4176|,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|2/15|c.185+13C>T||||||,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|2/15|c.185+13C>T||||||,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay|1/3|n.63+3792C>T||||||,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000447376|nonsense_mediated_decay|2/3|n.185+13C>T||||||,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000463818|retained_intron|2/2|n.284+13C>T||||||,A|non_coding_exon_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000496189|retained_intron|2/2|n.300C>T|||||| 22 30749058 . T C . . ANN=C|missense_variant|MODERATE|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|2/16|c.67A>G|p.Thr23Ala|222/5143|67/2382|23/793||,C|missense_variant|MODERATE|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|2/16|c.67A>G|p.Thr23Ala|199/4923|67/2187|23/728||,C|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding||c.-661T>C|||||3569|,C|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000399824|protein_coding||c.-664T>C|||||3566|,C|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding||c.-710T>C|||||3566|,C|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding||c.-144T>C|||||3932|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding||c.-292T>C|||||3938|WARNING_TRANSCRIPT_NO_STOP_CODON,C|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron||n.-1T>C|||||4045|,C|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay|1/3|n.63+3661A>G||||||,C|non_coding_exon_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000447376|nonsense_mediated_decay|2/4|n.67A>G||||||,C|non_coding_exon_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000463818|retained_intron|2/3|n.166A>G||||||,C|non_coding_exon_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000496189|retained_intron|2/2|n.169A>G|||||| 22 30752696 . G T . . ANN=T|5_prime_UTR_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|1/12|c.-591G>T|||||9294|,T|5_prime_UTR_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000399824|protein_coding|1/3|c.-591G>T|||||9294|,T|5_prime_UTR_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|1/12|c.-637G>T|||||9294|,T|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding||c.-144G>T|||||294|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding||c.-292G>T|||||300|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron||n.-1G>T|||||407|,T|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|1/15|c.63+23C>A||||||,T|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|1/15|c.63+23C>A||||||,T|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay|1/3|n.63+23C>A||||||,T|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000447376|nonsense_mediated_decay|1/3|n.63+23C>A||||||,T|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000463818|retained_intron|1/2|n.162+23C>A||||||,T|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000496189|retained_intron|1/1|n.165+23C>A|||||| 22 30752703 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|1/12|c.-584G>A|||||9287|,A|5_prime_UTR_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000399824|protein_coding|1/3|c.-584G>A|||||9287|,A|5_prime_UTR_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|1/12|c.-630G>A|||||9287|,A|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding||c.-144G>A|||||287|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding||c.-292G>A|||||293|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron||n.-1G>A|||||400|,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|1/15|c.63+16C>T||||||,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|1/15|c.63+16C>T||||||,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay|1/3|n.63+16C>T||||||,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000447376|nonsense_mediated_decay|1/3|n.63+16C>T||||||,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000463818|retained_intron|1/2|n.162+16C>T||||||,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000496189|retained_intron|1/1|n.165+16C>T|||||| 22 30762095 . C T . . ANN=T|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|3/12|c.106C>T|p.Arg36Cys|766/3001|106/2259|36/752||,T|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000399824|protein_coding|3/3|c.106C>T|p.Arg36Cys|769/1759|106/252|36/83||,T|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|3/12|c.106C>T|p.Arg36Cys|815/3052|106/2259|36/752||,T|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding|2/4|c.106C>T|p.Arg36Cys|249/732|106/589|36/195||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding|3/5|c.106C>T|p.Arg36Cys|397/894|106/603|36/200||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|2/9|n.174-3326C>T|||||| 22 30762096 . G A . . ANN=A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|3/12|c.107G>A|p.Arg36His|767/3001|107/2259|36/752||,A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000399824|protein_coding|3/3|c.107G>A|p.Arg36His|770/1759|107/252|36/83||,A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|3/12|c.107G>A|p.Arg36His|816/3052|107/2259|36/752||,A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding|2/4|c.107G>A|p.Arg36His|250/732|107/589|36/195||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding|3/5|c.107G>A|p.Arg36His|398/894|107/603|36/200||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|2/9|n.174-3325G>A|||||| 22 30762139 . C T . . ANN=T|synonymous_variant|LOW|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|3/12|c.150C>T|p.Leu50Leu|810/3001|150/2259|50/752||,T|synonymous_variant|LOW|CCDC157|ENSG00000187860|transcript|ENST00000399824|protein_coding|3/3|c.150C>T|p.Leu50Leu|813/1759|150/252|50/83||,T|synonymous_variant|LOW|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|3/12|c.150C>T|p.Leu50Leu|859/3052|150/2259|50/752||,T|synonymous_variant|LOW|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding|2/4|c.150C>T|p.Leu50Leu|293/732|150/589|50/195||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding|3/5|c.150C>T|p.Leu50Leu|441/894|150/603|50/200||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|2/9|n.174-3282C>T|||||| 22 30762140 . G A . . ANN=A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|3/12|c.151G>A|p.Asp51Asn|811/3001|151/2259|51/752||,A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000399824|protein_coding|3/3|c.151G>A|p.Asp51Asn|814/1759|151/252|51/83||,A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|3/12|c.151G>A|p.Asp51Asn|860/3052|151/2259|51/752||,A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding|2/4|c.151G>A|p.Asp51Asn|294/732|151/589|51/195||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding|3/5|c.151G>A|p.Asp51Asn|442/894|151/603|51/200||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|2/9|n.174-3281G>A|||||| 22 30762151 . C T . . ANN=T|synonymous_variant|LOW|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|3/12|c.162C>T|p.Ala54Ala|822/3001|162/2259|54/752||,T|synonymous_variant|LOW|CCDC157|ENSG00000187860|transcript|ENST00000399824|protein_coding|3/3|c.162C>T|p.Ala54Ala|825/1759|162/252|54/83||,T|synonymous_variant|LOW|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|3/12|c.162C>T|p.Ala54Ala|871/3052|162/2259|54/752||,T|synonymous_variant|LOW|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding|2/4|c.162C>T|p.Ala54Ala|305/732|162/589|54/195||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding|3/5|c.162C>T|p.Ala54Ala|453/894|162/603|54/200||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|2/9|n.174-3270C>T|||||| 22 30762178 . G A . . ANN=A|synonymous_variant|LOW|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|3/12|c.189G>A|p.Pro63Pro|849/3001|189/2259|63/752||,A|synonymous_variant|LOW|CCDC157|ENSG00000187860|transcript|ENST00000399824|protein_coding|3/3|c.189G>A|p.Pro63Pro|852/1759|189/252|63/83||,A|synonymous_variant|LOW|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|3/12|c.189G>A|p.Pro63Pro|898/3052|189/2259|63/752||,A|synonymous_variant|LOW|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding|2/4|c.189G>A|p.Pro63Pro|332/732|189/589|63/195||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding|3/5|c.189G>A|p.Pro63Pro|480/894|189/603|63/200||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|2/9|n.174-3243G>A|||||| 22 30762187 . C T . . ANN=T|synonymous_variant|LOW|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|3/12|c.198C>T|p.Pro66Pro|858/3001|198/2259|66/752||,T|synonymous_variant|LOW|CCDC157|ENSG00000187860|transcript|ENST00000399824|protein_coding|3/3|c.198C>T|p.Pro66Pro|861/1759|198/252|66/83||,T|synonymous_variant|LOW|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|3/12|c.198C>T|p.Pro66Pro|907/3052|198/2259|66/752||,T|synonymous_variant|LOW|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding|2/4|c.198C>T|p.Pro66Pro|341/732|198/589|66/195||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding|3/5|c.198C>T|p.Pro66Pro|489/894|198/603|66/200||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|2/9|n.174-3234C>T|||||| 22 30762280 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000399824|protein_coding|3/3|c.*39C>T|||||39|,T|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|3/11|c.248+43C>T||||||,T|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|3/11|c.248+43C>T||||||,T|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding|2/3|c.248+43C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding|3/4|c.248+43C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|2/9|n.174-3141C>T|||||| 22 30765380 . C T . . ANN=T|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.-1C>T|||||4301|,T|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000399824|protein_coding||c.*915C>T|||||2295|,T|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|3/11|c.249-41C>T||||||,T|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|3/11|c.249-41C>T||||||,T|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding|2/3|c.249-41C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding|3/4|c.249-41C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|2/9|n.174-41C>T|||||| 22 30765502 . G A . . ANN=A|synonymous_variant|LOW|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|4/12|c.330G>A|p.Ala110Ala|990/3001|330/2259|110/752||,A|synonymous_variant|LOW|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|4/12|c.330G>A|p.Ala110Ala|1039/3052|330/2259|110/752||,A|synonymous_variant|LOW|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding|3/4|c.330G>A|p.Ala110Ala|473/732|330/589|110/195||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding|4/5|c.330G>A|p.Ala110Ala|621/894|330/603|110/200||WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.-1G>A|||||4179|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000399824|protein_coding||c.*915G>A|||||2417|,A|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|3/10|n.255G>A|||||| 22 30765503 . G A . . ANN=A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|4/12|c.331G>A|p.Gly111Arg|991/3001|331/2259|111/752||,A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|4/12|c.331G>A|p.Gly111Arg|1040/3052|331/2259|111/752||,A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding|3/4|c.331G>A|p.Gly111Arg|474/732|331/589|111/195||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding|4/5|c.331G>A|p.Gly111Arg|622/894|331/603|111/200||WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.-1G>A|||||4178|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000399824|protein_coding||c.*915G>A|||||2418|,A|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|3/10|n.256G>A|||||| 22 30765621 . T C . . ANN=C|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.-1T>C|||||4060|,C|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000399824|protein_coding||c.*915T>C|||||2536|,C|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|4/11|c.420+29T>C||||||,C|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|4/11|c.420+29T>C||||||,C|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding|3/3|c.420+29T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding|4/4|c.420+29T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|3/9|n.345+29T>C|||||| 22 30766366 . G A . . ANN=A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|5/12|c.472G>A|p.Glu158Lys|1132/3001|472/2259|158/752||,A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|5/12|c.472G>A|p.Glu158Lys|1181/3052|472/2259|158/752||,A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding|4/4|c.472G>A|p.Glu158Lys|615/732|472/589|158/195||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding|5/5|c.472G>A|p.Glu158Lys|763/894|472/603|158/200||WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.-1G>A|||||3315|,A|downstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.*1443C>T|||||4564|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000399824|protein_coding||c.*915G>A|||||3281|,A|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|4/10|n.397G>A|||||| 22 30766428 . A G . . ANN=G|synonymous_variant|LOW|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|5/12|c.534A>G|p.Leu178Leu|1194/3001|534/2259|178/752||,G|synonymous_variant|LOW|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|5/12|c.534A>G|p.Leu178Leu|1243/3052|534/2259|178/752||,G|synonymous_variant|LOW|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding|4/4|c.534A>G|p.Leu178Leu|677/732|534/589|178/195||WARNING_TRANSCRIPT_INCOMPLETE,G|synonymous_variant|LOW|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding|5/5|c.534A>G|p.Leu178Leu|825/894|534/603|178/200||WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.-1A>G|||||3253|,G|downstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.*1443T>C|||||4502|,G|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000399824|protein_coding||c.*915A>G|||||3343|,G|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|4/10|n.459A>G|||||| 22 30766439 . A G . . ANN=G|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|5/12|c.545A>G|p.Gln182Arg|1205/3001|545/2259|182/752||,G|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|5/12|c.545A>G|p.Gln182Arg|1254/3052|545/2259|182/752||,G|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding|4/4|c.545A>G|p.Gln182Arg|688/732|545/589|182/195||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding|5/5|c.545A>G|p.Gln182Arg|836/894|545/603|182/200||WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.-1A>G|||||3242|,G|downstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.*1443T>C|||||4491|,G|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000399824|protein_coding||c.*915A>G|||||3354|,G|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|4/10|n.470A>G|||||| 22 30766466 . C T . . ANN=T|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|5/12|c.572C>T|p.Pro191Leu|1232/3001|572/2259|191/752||,T|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|5/12|c.572C>T|p.Pro191Leu|1281/3052|572/2259|191/752||,T|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding|4/4|c.572C>T|p.Pro191Leu|715/732|572/589|191/195||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding|5/5|c.572C>T|p.Pro191Leu|863/894|572/603|191/200||WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.-1C>T|||||3215|,T|downstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.*1443G>A|||||4464|,T|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000399824|protein_coding||c.*915C>T|||||3381|,T|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|4/10|n.497C>T|||||| 22 30766527 . C T . . ANN=T|synonymous_variant|LOW|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|5/12|c.633C>T|p.Ser211Ser|1293/3001|633/2259|211/752||,T|synonymous_variant|LOW|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|5/12|c.633C>T|p.Ser211Ser|1342/3052|633/2259|211/752||,T|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.-1C>T|||||3154|,T|downstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.*1443G>A|||||4403|,T|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000399824|protein_coding||c.*915C>T|||||3442|,T|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding||c.*732C>T|||||44|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding||c.*894C>T|||||30|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|4/10|n.558C>T|||||| 22 30766535 . T C . . ANN=C|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|5/12|c.641T>C|p.Ile214Thr|1301/3001|641/2259|214/752||,C|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|5/12|c.641T>C|p.Ile214Thr|1350/3052|641/2259|214/752||,C|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.-1T>C|||||3146|,C|downstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.*1443A>G|||||4395|,C|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000399824|protein_coding||c.*915T>C|||||3450|,C|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding||c.*732T>C|||||52|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding||c.*894T>C|||||38|WARNING_TRANSCRIPT_NO_STOP_CODON,C|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|4/10|n.566T>C|||||| 22 30766542 . G A . . ANN=A|synonymous_variant|LOW|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|5/12|c.648G>A|p.Thr216Thr|1308/3001|648/2259|216/752||,A|synonymous_variant|LOW|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|5/12|c.648G>A|p.Thr216Thr|1357/3052|648/2259|216/752||,A|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.-1G>A|||||3139|,A|downstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.*1443C>T|||||4388|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000399824|protein_coding||c.*915G>A|||||3457|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding||c.*732G>A|||||59|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding||c.*894G>A|||||45|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|4/10|n.573G>A|||||| 22 30766850 . A G . . ANN=G|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|5/12|c.956A>G|p.Lys319Arg|1616/3001|956/2259|319/752||,G|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|5/12|c.956A>G|p.Lys319Arg|1665/3052|956/2259|319/752||,G|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|9/12|c.956A>G||||||,G|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|6/12|c.956A>G||||||,G|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|8/12|c.956A>G||||||,G|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|5/12|c.956A>G||||||,G|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|7/12|c.956A>G||||||,G|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.-1A>G|||||2831|,G|downstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.*1443T>C|||||4080|,G|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000399824|protein_coding||c.*915A>G|||||3765|,G|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding||c.*732A>G|||||367|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding||c.*894A>G|||||353|WARNING_TRANSCRIPT_NO_STOP_CODON,G|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|4/10|n.881A>G|||||| 22 30766868 . G A . . ANN=A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|5/12|c.974G>A|p.Arg325Gln|1634/3001|974/2259|325/752||,A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|5/12|c.974G>A|p.Arg325Gln|1683/3052|974/2259|325/752||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|9/12|c.974G>A||||||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|6/12|c.974G>A||||||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|8/12|c.974G>A||||||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|5/12|c.974G>A||||||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|7/12|c.974G>A||||||,A|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.-1G>A|||||2813|,A|downstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.*1443C>T|||||4062|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000399824|protein_coding||c.*915G>A|||||3783|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding||c.*732G>A|||||385|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding||c.*894G>A|||||371|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|4/10|n.899G>A|||||| 22 30766905 . T C . . ANN=C|synonymous_variant|LOW|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|5/12|c.1011T>C|p.Ser337Ser|1671/3001|1011/2259|337/752||,C|synonymous_variant|LOW|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|5/12|c.1011T>C|p.Ser337Ser|1720/3052|1011/2259|337/752||,C|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|9/12|c.1011T>C||||||,C|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|6/12|c.1011T>C||||||,C|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|8/12|c.1011T>C||||||,C|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|5/12|c.1011T>C||||||,C|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|7/12|c.1011T>C||||||,C|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.-1T>C|||||2776|,C|downstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.*1443A>G|||||4025|,C|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000399824|protein_coding||c.*915T>C|||||3820|,C|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding||c.*732T>C|||||422|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding||c.*894T>C|||||408|WARNING_TRANSCRIPT_NO_STOP_CODON,C|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|4/10|n.936T>C|||||| 22 30767590 . G A . . ANN=A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|9/12|c.1046-49G>A||||||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|6/12|c.1046-49G>A||||||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|8/12|c.1046-49G>A||||||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|5/12|c.1046-49G>A||||||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|7/12|c.1046-49G>A||||||,A|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.-1G>A|||||2091|,A|downstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.*1443C>T|||||3340|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000399824|protein_coding||c.*915G>A|||||4505|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding||c.*732G>A|||||1107|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding||c.*894G>A|||||1093|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|5/11|c.1046-49G>A||||||,A|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|5/11|c.1046-49G>A||||||,A|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|4/10|n.1621G>A|||||| 22 30767708 . A G . . ANN=G|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|6/12|c.1115A>G|p.Gln372Arg|1775/3001|1115/2259|372/752||,G|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|6/12|c.1115A>G|p.Gln372Arg|1824/3052|1115/2259|372/752||,G|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|9/12|c.1115A>G||||||,G|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|6/12|c.1115A>G||||||,G|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|8/12|c.1115A>G||||||,G|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|5/12|c.1115A>G||||||,G|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|7/12|c.1115A>G||||||,G|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.-1A>G|||||1973|,G|downstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.*1443T>C|||||3222|,G|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000399824|protein_coding||c.*915A>G|||||4623|,G|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding||c.*732A>G|||||1225|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding||c.*894A>G|||||1211|WARNING_TRANSCRIPT_NO_STOP_CODON,G|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|4/10|n.1739A>G|||||| 22 30767729 . A G . . ANN=G|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|9/12|c.1123+13A>G||||||,G|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|6/12|c.1123+13A>G||||||,G|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|8/12|c.1123+13A>G||||||,G|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|5/12|c.1123+13A>G||||||,G|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|7/12|c.1123+13A>G||||||,G|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.-1A>G|||||1952|,G|downstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.*1443T>C|||||3201|,G|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000399824|protein_coding||c.*915A>G|||||4644|,G|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding||c.*732A>G|||||1246|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding||c.*894A>G|||||1232|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|6/11|c.1123+13A>G||||||,G|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|6/11|c.1123+13A>G||||||,G|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|4/9|n.1747+13A>G|||||| 22 30768048 . C T . . ANN=T|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|9/12|c.1124-16C>T||||||,T|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|6/12|c.1124-16C>T||||||,T|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|8/12|c.1124-16C>T||||||,T|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|5/12|c.1124-16C>T||||||,T|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|7/12|c.1124-16C>T||||||,T|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.-1C>T|||||1633|,T|downstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.*1443G>A|||||2882|,T|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000399824|protein_coding||c.*915C>T|||||4963|,T|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding||c.*732C>T|||||1565|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding||c.*894C>T|||||1551|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|6/11|c.1124-16C>T||||||,T|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|6/11|c.1124-16C>T||||||,T|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|4/9|n.1748-16C>T|||||| 22 30768118 . GGCAGGTGCAGCAGCTGGAGGA G . . ANN=|inframe_deletion|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|7/12|c.1192_1212delCTGGAGGAGCAGGTGCAGCAG|p.Leu398_Gln404del|1852/3001|1192/2259|398/752||INFO_REALIGN_3_PRIME,|inframe_deletion|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|7/12|c.1192_1212delCTGGAGGAGCAGGTGCAGCAG|p.Leu398_Gln404del|1901/3052|1192/2259|398/752||INFO_REALIGN_3_PRIME,|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|9/12|c.1179_1199delGCAGGTGCAGCAGCTGGAGGA||||||,|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|6/12|c.1179_1199delGCAGGTGCAGCAGCTGGAGGA||||||,|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|8/12|c.1179_1199delGCAGGTGCAGCAGCTGGAGGA||||||,|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|5/12|c.1179_1199delGCAGGTGCAGCAGCTGGAGGA||||||,|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|7/12|c.1179_1199delGCAGGTGCAGCAGCTGGAGGA||||||,|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.-1_-1delGCAGGTGCAGCAGCTGGAGGA|||||1562|,|downstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.*1443_*1443delTCCTCCAGCTGCTGCACCTGC|||||2811|,|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding||c.*732_*732delGCAGGTGCAGCAGCTGGAGGA|||||1636|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding||c.*894_*894delGCAGGTGCAGCAGCTGGAGGA|||||1622|WARNING_TRANSCRIPT_NO_STOP_CODON,|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|5/10|n.1816_1836delCTGGAGGAGCAGGTGCAGCAG||||||INFO_REALIGN_3_PRIME 22 30768234 . AAGG A . . ANN=|inframe_deletion|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|7/12|c.1297_1299delGAG|p.Glu433del|1957/3001|1297/2259|433/752||INFO_REALIGN_3_PRIME,|inframe_deletion|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|7/12|c.1297_1299delGAG|p.Glu433del|2006/3052|1297/2259|433/752||INFO_REALIGN_3_PRIME,|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|9/12|c.1295_1297delAGG||||||,|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|6/12|c.1295_1297delAGG||||||,|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|8/12|c.1295_1297delAGG||||||,|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|5/12|c.1295_1297delAGG||||||,|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|7/12|c.1295_1297delAGG||||||,|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.-1_-1delAGG|||||1446|,|downstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.*1443_*1443delCCT|||||2695|,|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding||c.*732_*732delAGG|||||1752|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding||c.*894_*894delAGG|||||1738|WARNING_TRANSCRIPT_NO_STOP_CODON,|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|5/10|n.1921_1923delGAG||||||INFO_REALIGN_3_PRIME 22 30768265 . G A . . ANN=A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|7/12|c.1325G>A|p.Arg442His|1985/3001|1325/2259|442/752||,A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|7/12|c.1325G>A|p.Arg442His|2034/3052|1325/2259|442/752||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|9/12|c.1325G>A||||||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|6/12|c.1325G>A||||||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|8/12|c.1325G>A||||||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|5/12|c.1325G>A||||||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|7/12|c.1325G>A||||||,A|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.-1G>A|||||1416|,A|downstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.*1443C>T|||||2665|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding||c.*732G>A|||||1782|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding||c.*894G>A|||||1768|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|5/10|n.1949G>A|||||| 22 30768269 . C T . . ANN=T|synonymous_variant|LOW|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|7/12|c.1329C>T|p.His443His|1989/3001|1329/2259|443/752||,T|synonymous_variant|LOW|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|7/12|c.1329C>T|p.His443His|2038/3052|1329/2259|443/752||,T|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|9/12|c.1329C>T||||||,T|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|6/12|c.1329C>T||||||,T|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|8/12|c.1329C>T||||||,T|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|5/12|c.1329C>T||||||,T|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|7/12|c.1329C>T||||||,T|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.-1C>T|||||1412|,T|downstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.*1443G>A|||||2661|,T|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding||c.*732C>T|||||1786|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding||c.*894C>T|||||1772|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|5/10|n.1953C>T|||||| 22 30768297 . G C . . ANN=C|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|9/12|c.1335+22G>C||||||,C|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|6/12|c.1335+22G>C||||||,C|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|8/12|c.1335+22G>C||||||,C|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|5/12|c.1335+22G>C||||||,C|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|7/12|c.1335+22G>C||||||,C|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.-1G>C|||||1384|,C|downstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.*1443C>G|||||2633|,C|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding||c.*732G>C|||||1814|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding||c.*894G>C|||||1800|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|7/11|c.1335+22G>C||||||,C|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|7/11|c.1335+22G>C||||||,C|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|5/9|n.1959+22G>C|||||| 22 30768304 . C T . . ANN=T|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|9/12|c.1335+29C>T||||||,T|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|6/12|c.1335+29C>T||||||,T|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|8/12|c.1335+29C>T||||||,T|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|5/12|c.1335+29C>T||||||,T|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|7/12|c.1335+29C>T||||||,T|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.-1C>T|||||1377|,T|downstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.*1443G>A|||||2626|,T|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding||c.*732C>T|||||1821|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding||c.*894C>T|||||1807|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|7/11|c.1335+29C>T||||||,T|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|7/11|c.1335+29C>T||||||,T|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|5/9|n.1959+29C>T|||||| 22 30768305 . A G . . ANN=G|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|9/12|c.1335+30A>G||||||,G|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|6/12|c.1335+30A>G||||||,G|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|8/12|c.1335+30A>G||||||,G|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|5/12|c.1335+30A>G||||||,G|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|7/12|c.1335+30A>G||||||,G|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.-1A>G|||||1376|,G|downstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.*1443T>C|||||2625|,G|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding||c.*732A>G|||||1822|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding||c.*894A>G|||||1808|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|7/11|c.1335+30A>G||||||,G|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|7/11|c.1335+30A>G||||||,G|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|5/9|n.1959+30A>G|||||| 22 30768321 . G A . . ANN=A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|9/12|c.1335+46G>A||||||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|6/12|c.1335+46G>A||||||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|8/12|c.1335+46G>A||||||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|5/12|c.1335+46G>A||||||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|7/12|c.1335+46G>A||||||,A|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.-1G>A|||||1360|,A|downstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.*1443C>T|||||2609|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding||c.*732G>A|||||1838|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding||c.*894G>A|||||1824|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|7/11|c.1335+46G>A||||||,A|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|7/11|c.1335+46G>A||||||,A|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|5/9|n.1959+46G>A|||||| 22 30769572 . C T . . ANN=T|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|9/12|c.1336-14C>T||||||,T|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|6/12|c.1336-14C>T||||||,T|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|8/12|c.1336-14C>T||||||,T|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|5/12|c.1336-14C>T||||||,T|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|7/12|c.1336-14C>T||||||,T|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.-1C>T|||||109|,T|downstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.*1443G>A|||||1358|,T|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding||c.*732C>T|||||3089|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding||c.*894C>T|||||3075|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.*105G>A|||||4263|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|7/11|c.1336-14C>T||||||,T|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|7/11|c.1336-14C>T||||||,T|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|5/9|n.1960-14C>T|||||| 22 30769605 . G A . . ANN=A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|8/12|c.1355G>A|p.Arg452Gln|2015/3001|1355/2259|452/752||,A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|8/12|c.1355G>A|p.Arg452Gln|2064/3052|1355/2259|452/752||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|9/12|c.1355G>A||||||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|6/12|c.1355G>A||||||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|8/12|c.1355G>A||||||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|5/12|c.1355G>A||||||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|7/12|c.1355G>A||||||,A|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.-1G>A|||||76|,A|downstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.*1443C>T|||||1325|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding||c.*732G>A|||||3122|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding||c.*894G>A|||||3108|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.*105C>T|||||4230|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|6/10|n.1979G>A|||||| 22 30769685 . C T . . ANN=T|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|8/12|c.1435C>T|p.Arg479Trp|2095/3001|1435/2259|479/752||,T|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|8/12|c.1435C>T|p.Arg479Trp|2144/3052|1435/2259|479/752||,T|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|9/12|c.1435C>T||||||,T|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|6/12|c.1435C>T||||||,T|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|8/12|c.1435C>T||||||,T|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|5/12|c.1435C>T||||||,T|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|7/12|c.1435C>T||||||,T|downstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.*1443G>A|||||1245|,T|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding||c.*732C>T|||||3202|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding||c.*894C>T|||||3188|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.*105G>A|||||4150|WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|6/10|n.2059C>T||||||,T|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron|1/3|n.5C>T|||||| 22 30769901 . G C . . ANN=C|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|9/12|c.1504-11G>C||||||,C|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|6/12|c.1504-11G>C||||||,C|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|8/12|c.1504-11G>C||||||,C|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|5/12|c.1504-11G>C||||||,C|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|7/12|c.1504-11G>C||||||,C|downstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.*1443C>G|||||1029|,C|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding||c.*1209C>G|||||4905|,C|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding||c.*732G>C|||||3418|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding||c.*894G>C|||||3404|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.*105C>G|||||3934|WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|8/11|c.1504-11G>C||||||,C|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|8/11|c.1504-11G>C||||||,C|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|6/9|n.2128-11G>C||||||,C|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron|1/3|n.221G>C|||||| 22 30769906 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|8/11|c.1504-6T>C||||||,C|splice_region_variant&intron_variant|LOW|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|8/11|c.1504-6T>C||||||,C|splice_region_variant&intron_variant|LOW|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|6/9|n.2128-6T>C||||||,C|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|9/12|c.1504-6T>C||||||,C|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|6/12|c.1504-6T>C||||||,C|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|8/12|c.1504-6T>C||||||,C|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|5/12|c.1504-6T>C||||||,C|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|7/12|c.1504-6T>C||||||,C|downstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.*1443A>G|||||1024|,C|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding||c.*1209A>G|||||4900|,C|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding||c.*732T>C|||||3423|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding||c.*894T>C|||||3409|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.*105A>G|||||3929|WARNING_TRANSCRIPT_NO_START_CODON,C|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron|1/3|n.226T>C|||||| 22 30769997 . G A . . ANN=A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|9/12|c.1589G>A|p.Arg530Gln|2249/3001|1589/2259|530/752||,A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|9/12|c.1589G>A|p.Arg530Gln|2298/3052|1589/2259|530/752||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|9/12|c.1589G>A||||||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|6/12|c.1589G>A||||||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|8/12|c.1589G>A||||||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|5/12|c.1589G>A||||||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|7/12|c.1589G>A||||||,A|downstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.*1443C>T|||||933|,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding||c.*1209C>T|||||4809|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding||c.*732G>A|||||3514|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding||c.*894G>A|||||3500|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.*105C>T|||||3838|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding||c.*1030C>T|||||4975|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|7/10|n.2213G>A||||||,A|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron|1/3|n.317G>A|||||| 22 30770021 . G A . . ANN=A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|9/12|c.1613G>A|p.Arg538Gln|2273/3001|1613/2259|538/752||,A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|9/12|c.1613G>A|p.Arg538Gln|2322/3052|1613/2259|538/752||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|9/12|c.1613G>A||||||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|6/12|c.1613G>A||||||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|8/12|c.1613G>A||||||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|5/12|c.1613G>A||||||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|7/12|c.1613G>A||||||,A|downstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.*1443C>T|||||909|,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding||c.*1209C>T|||||4785|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding||c.*732G>A|||||3538|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding||c.*894G>A|||||3524|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.*105C>T|||||3814|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding||c.*1030C>T|||||4951|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|7/10|n.2237G>A||||||,A|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron|1/3|n.341G>A|||||| 22 30770027 . G A . . ANN=A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|9/12|c.1619G>A|p.Arg540Gln|2279/3001|1619/2259|540/752||,A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|9/12|c.1619G>A|p.Arg540Gln|2328/3052|1619/2259|540/752||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|9/12|c.1619G>A||||||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|6/12|c.1619G>A||||||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|8/12|c.1619G>A||||||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|5/12|c.1619G>A||||||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|7/12|c.1619G>A||||||,A|downstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.*1443C>T|||||903|,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding||c.*1209C>T|||||4779|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding||c.*732G>A|||||3544|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding||c.*894G>A|||||3530|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.*105C>T|||||3808|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding||c.*1030C>T|||||4945|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|7/10|n.2243G>A||||||,A|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron|1/3|n.347G>A|||||| 22 30770084 . G C . . ANN=C|splice_region_variant&intron_variant|LOW|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|9/11|c.1672+4G>C||||||,C|splice_region_variant&intron_variant|LOW|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|9/11|c.1672+4G>C||||||,C|splice_region_variant&intron_variant|LOW|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|7/9|n.2296+4G>C||||||,C|splice_region_variant&intron_variant|LOW|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron|1/2|n.400+4G>C||||||,C|downstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.*1443C>G|||||846|,C|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding||c.*1209C>G|||||4722|,C|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding||c.*732G>C|||||3601|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding||c.*894G>C|||||3587|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.*105C>G|||||3751|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding||c.*1030C>G|||||4888|WARNING_TRANSCRIPT_NO_START_CODON 22 30771458 . T C . . ANN=C|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding||c.*1209A>G|||||3348|,C|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding||c.*732T>C|||||4975|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding||c.*894T>C|||||4961|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.*105A>G|||||2377|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding||c.*1030A>G|||||3514|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron||n.*896A>G|||||4121|,C|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|9/11|c.1673-10T>C||||||,C|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|9/11|c.1673-10T>C||||||,C|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|7/9|n.2297-17T>C||||||,C|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron|1/2|n.401-790T>C||||||,C|non_coding_exon_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense|2/2|n.915A>G|||||| 22 30771554 . T G . . ANN=G|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|10/12|c.1759T>G|p.Ser587Ala|2419/3001|1759/2259|587/752||,G|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|10/12|c.1759T>G|p.Ser587Ala|2468/3052|1759/2259|587/752||,G|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|10/12|c.1759T>G||||||,G|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding||c.*1209A>C|||||3252|,G|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.*105A>C|||||2281|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding||c.*1030A>C|||||3418|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron||n.*896A>C|||||4025|,G|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron|1/2|n.401-694T>G||||||,G|non_coding_exon_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense|2/2|n.819A>C||||||,G|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|8/10|n.2376T>G|||||| 22 30771573 . G A . . ANN=A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|10/12|c.1778G>A|p.Arg593Gln|2438/3001|1778/2259|593/752||,A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|10/12|c.1778G>A|p.Arg593Gln|2487/3052|1778/2259|593/752||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|10/12|c.1778G>A||||||,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding||c.*1209C>T|||||3233|,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.*105C>T|||||2262|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding||c.*1030C>T|||||3399|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron||n.*896C>T|||||4006|,A|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron|1/2|n.401-675G>A||||||,A|non_coding_exon_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense|2/2|n.800C>T||||||,A|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|8/10|n.2395G>A|||||| 22 30772208 . C T . . ANN=T|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding||c.*1209G>A|||||2598|,T|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.*105G>A|||||1627|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding||c.*1030G>A|||||2764|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron||n.*896G>A|||||3371|,T|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|10/11|c.1858-40C>T||||||,T|intron_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense|1/1|n.364-199G>A||||||,T|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|10/11|c.1858-40C>T||||||,T|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|8/9|n.2475-40C>T||||||,T|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron|1/2|n.401-40C>T|||||| 22 30772305 . C A . . ANN=A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|11/12|c.1915C>A|p.Pro639Thr|2575/3001|1915/2259|639/752||,A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|11/12|c.1915C>A|p.Pro639Thr|2624/3052|1915/2259|639/752||,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding||c.*1209G>T|||||2501|,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.*105G>T|||||1530|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding||c.*1030G>T|||||2667|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron||n.*896G>T|||||3274|,A|intron_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense|1/1|n.364-296G>T||||||,A|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|9/10|n.2532C>A||||||,A|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron|2/3|n.458C>A|||||| 22 30772396 . G A . . ANN=A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding||c.*1209C>T|||||2410|,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.*105C>T|||||1439|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding||c.*1030C>T|||||2576|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron||n.*896C>T|||||3183|,A|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|11/11|c.1947-26G>A||||||,A|intron_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense|1/1|n.364-387C>T||||||,A|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|11/11|c.1947-26G>A||||||,A|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|9/9|n.2564-26G>A||||||,A|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron|2/2|n.490-26G>A|||||| 22 30772424 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|12/12|c.1949C>T|p.Pro650Leu|2609/3001|1949/2259|650/752||,T|missense_variant&splice_region_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|12/12|c.1949C>T|p.Pro650Leu|2658/3052|1949/2259|650/752||,T|splice_region_variant&non_coding_exon_variant|LOW|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|10/10|n.2566C>T||||||,T|splice_region_variant&non_coding_exon_variant|LOW|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron|3/3|n.492C>T||||||,T|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding||c.*1209G>A|||||2382|,T|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.*105G>A|||||1411|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding||c.*1030G>A|||||2548|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron||n.*896G>A|||||3155|,T|intron_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense|1/1|n.364-415G>A|||||| 22 30772457 . C G . . ANN=G|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|12/12|c.1982C>G|p.Thr661Arg|2642/3001|1982/2259|661/752||,G|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|12/12|c.1982C>G|p.Thr661Arg|2691/3052|1982/2259|661/752||,G|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding||c.*1209G>C|||||2349|,G|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.*105G>C|||||1378|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding||c.*1030G>C|||||2515|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron||n.*896G>C|||||3122|,G|intron_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense|1/1|n.364-448G>C||||||,G|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|10/10|n.2599C>G||||||,G|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron|3/3|n.525C>G|||||| 22 30772599 . C T . . ANN=T|synonymous_variant|LOW|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|12/12|c.2124C>T|p.Ser708Ser|2784/3001|2124/2259|708/752||,T|synonymous_variant|LOW|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|12/12|c.2124C>T|p.Ser708Ser|2833/3052|2124/2259|708/752||,T|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding||c.*1209G>A|||||2207|,T|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.*105G>A|||||1236|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding||c.*1030G>A|||||2373|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron||n.*896G>A|||||2980|,T|intron_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense|1/1|n.364-590G>A||||||,T|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|10/10|n.2741C>T||||||,T|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron|3/3|n.667C>T|||||| 22 30772680 . A G . . ANN=G|synonymous_variant|LOW|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|12/12|c.2205A>G|p.Ser735Ser|2865/3001|2205/2259|735/752||,G|synonymous_variant|LOW|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|12/12|c.2205A>G|p.Ser735Ser|2914/3052|2205/2259|735/752||,G|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding||c.*1209T>C|||||2126|,G|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.*105T>C|||||1155|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding||c.*1030T>C|||||2292|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron||n.*896T>C|||||2899|,G|intron_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense|1/1|n.364-671T>C||||||,G|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|10/10|n.2822A>G||||||,G|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron|3/3|n.748A>G|||||| 22 30772686 . C T . . ANN=T|synonymous_variant|LOW|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|12/12|c.2211C>T|p.Gly737Gly|2871/3001|2211/2259|737/752||,T|synonymous_variant|LOW|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|12/12|c.2211C>T|p.Gly737Gly|2920/3052|2211/2259|737/752||,T|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding||c.*1209G>A|||||2120|,T|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.*105G>A|||||1149|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding||c.*1030G>A|||||2286|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron||n.*896G>A|||||2893|,T|intron_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense|1/1|n.364-677G>A||||||,T|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|10/10|n.2828C>T||||||,T|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron|3/3|n.754C>T|||||| 22 30772687 . C T . . ANN=T|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|12/12|c.2212C>T|p.Arg738Trp|2872/3001|2212/2259|738/752||,T|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|12/12|c.2212C>T|p.Arg738Trp|2921/3052|2212/2259|738/752||,T|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding||c.*1209G>A|||||2119|,T|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.*105G>A|||||1148|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding||c.*1030G>A|||||2285|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron||n.*896G>A|||||2892|,T|intron_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense|1/1|n.364-678G>A||||||,T|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|10/10|n.2829C>T||||||,T|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron|3/3|n.755C>T|||||| 22 30772688 . G A . . ANN=A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|12/12|c.2213G>A|p.Arg738Gln|2873/3001|2213/2259|738/752||,A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|12/12|c.2213G>A|p.Arg738Gln|2922/3052|2213/2259|738/752||,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding||c.*1209C>T|||||2118|,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.*105C>T|||||1147|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding||c.*1030C>T|||||2284|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron||n.*896C>T|||||2891|,A|intron_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense|1/1|n.364-679C>T||||||,A|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|10/10|n.2830G>A||||||,A|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron|3/3|n.756G>A|||||| 22 30775543 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding|9/9|c.*46C>T|||||46|,A|3_prime_UTR_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding|8/8|c.*50C>T|||||50|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.-1C>T|||||1681|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding||c.*2919G>A|||||2727|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding||c.*2968G>A|||||2725|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron||n.*4789G>A|||||896|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.*884G>A|||||2727|,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron||n.*896C>T|||||36|,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000473077|retained_intron||n.*555C>T|||||4816|,A|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding|1/1|c.64+157C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 30775598 . G A . . ANN=A|stop_gained|HIGH|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding|8/8|c.1024C>T|p.Arg342*|1025/1651|1024/1029|342/342||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding|9/9|c.1125C>T|p.Ser375Ser|1200/1992|1125/1134|375/377||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|9/9|c.1125C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|6/9|c.1125C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|7/9|c.1125C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|8/9|c.1125C>T||||||,A|upstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.-1C>T|||||1736|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding||c.*2919G>A|||||2782|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding||c.*2968G>A|||||2780|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron||n.*4789G>A|||||951|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.*884G>A|||||2782|,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000473077|retained_intron||n.*555C>T|||||4761|,A|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding|1/1|c.64+102C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron|5/5|n.877C>T|||||| 22 30775675 . G A . . ANN=A|missense_variant|MODERATE|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding|8/8|c.947C>T|p.Ser316Leu|948/1651|947/1029|316/342||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|9/9|c.1111+25C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|6/9|c.1111+25C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|7/9|c.1111+25C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|8/9|c.1111+25C>T||||||,A|upstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.-1C>T|||||1813|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding||c.*2919G>A|||||2859|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding||c.*2968G>A|||||2857|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron||n.*4789G>A|||||1028|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.*884G>A|||||2859|,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000473077|retained_intron||n.*555C>T|||||4684|,A|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding|8/8|c.1111+25C>T||||||,A|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding|1/1|c.64+25C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron|4/4|n.863+25C>T|||||| 22 30775694 . G A . . ANN=A|missense_variant|MODERATE|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding|8/8|c.928C>T|p.His310Tyr|929/1651|928/1029|310/342||WARNING_TRANSCRIPT_NO_START_CODON,A|splice_region_variant&intron_variant|LOW|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding|8/8|c.1111+6C>T||||||,A|splice_region_variant&intron_variant|LOW|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding|1/1|c.64+6C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|splice_region_variant&intron_variant|LOW|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron|4/4|n.863+6C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|9/9|c.1111+6C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|6/9|c.1111+6C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|7/9|c.1111+6C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|8/9|c.1111+6C>T||||||,A|upstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.-1C>T|||||1832|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding||c.*2919G>A|||||2878|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding||c.*2968G>A|||||2876|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron||n.*4789G>A|||||1047|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.*884G>A|||||2878|,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000473077|retained_intron||n.*555C>T|||||4665| 22 30775729 . G A . . ANN=A|missense_variant|MODERATE|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding|8/9|c.1082C>T|p.Thr361Ile|1157/1992|1082/1134|361/377||,A|missense_variant|MODERATE|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding|1/2|c.35C>T|p.Thr12Ile|35/361|35/105|12/34||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding|8/8|c.893C>T|p.Thr298Ile|894/1651|893/1029|298/342||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|9/9|c.1082C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|6/9|c.1082C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|7/9|c.1082C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|8/9|c.1082C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|zinc_finger_region:RING-type|ENST00000382363|protein_coding|7/9|c.1082C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|zinc_finger_region:RING-type|ENST00000382363|protein_coding|8/9|c.1082C>T||||||,A|upstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.-1C>T|||||1867|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding||c.*2919G>A|||||2913|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding||c.*2968G>A|||||2911|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron||n.*4789G>A|||||1082|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.*884G>A|||||2913|,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000473077|retained_intron||n.*555C>T|||||4630|,A|non_coding_exon_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron|4/5|n.834C>T|||||| 22 30775766 . G A . . ANN=A|stop_gained|HIGH|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding|8/9|c.1045C>T|p.Arg349*|1120/1992|1045/1134|349/377||,A|stop_gained|HIGH|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding|8/8|c.856C>T|p.Arg286*|857/1651|856/1029|286/342||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|9/9|c.1045C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|6/9|c.1045C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|7/9|c.1045C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|8/9|c.1045C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|zinc_finger_region:RING-type|ENST00000382363|protein_coding|7/9|c.1045C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|zinc_finger_region:RING-type|ENST00000382363|protein_coding|8/9|c.1045C>T||||||,A|upstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.-1C>T|||||1904|,A|upstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.-1C>T|||||3|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding||c.*2919G>A|||||2950|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding||c.*2968G>A|||||2948|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron||n.*4789G>A|||||1119|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.*884G>A|||||2950|,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000473077|retained_intron||n.*555C>T|||||4593|,A|non_coding_exon_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron|4/5|n.797C>T||||||;LOF=(RNF215|ENSG00000099999|6|0.17);NMD=(RNF215|ENSG00000099999|6|0.17) 22 30775815 . G A . . ANN=A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|9/9|c.1009-13C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|6/9|c.1009-13C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|7/9|c.1009-13C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|8/9|c.1009-13C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|zinc_finger_region:RING-type|ENST00000382363|protein_coding|7/9|c.1009-13C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|zinc_finger_region:RING-type|ENST00000382363|protein_coding|8/9|c.1009-13C>T||||||,A|upstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.-1C>T|||||1953|,A|upstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.-1C>T|||||52|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding||c.*2919G>A|||||2999|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding||c.*2968G>A|||||2997|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron||n.*4789G>A|||||1168|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.*884G>A|||||2999|,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000473077|retained_intron||n.*555C>T|||||4544|,A|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding|7/8|c.1009-13C>T||||||,A|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding|7/7|c.820-13C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron|3/4|n.761-13C>T|||||| 22 30776095 . C T . . ANN=T|missense_variant|MODERATE|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding|7/9|c.964G>A|p.Ala322Thr|1039/1992|964/1134|322/377||,T|missense_variant|MODERATE|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding|7/8|c.775G>A|p.Ala259Thr|776/1651|775/1029|259/342||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|9/9|c.964G>A||||||,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|6/9|c.964G>A||||||,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|7/9|c.964G>A||||||,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|8/9|c.964G>A||||||,T|upstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.-1G>A|||||2233|,T|upstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.-1G>A|||||332|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding||c.*2919C>T|||||3279|,T|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding||c.*2968C>T|||||3277|,T|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron||n.*4789C>T|||||1448|,T|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.*884C>T|||||3279|,T|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000473077|retained_intron||n.*555G>A|||||4264|,T|non_coding_exon_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron|3/5|n.716G>A|||||| 22 30776106 . G C . . ANN=C|missense_variant|MODERATE|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding|7/9|c.953C>G|p.Pro318Arg|1028/1992|953/1134|318/377||,C|missense_variant|MODERATE|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding|7/8|c.764C>G|p.Pro255Arg|765/1651|764/1029|255/342||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|9/9|c.953C>G||||||,C|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|6/9|c.953C>G||||||,C|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|7/9|c.953C>G||||||,C|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|8/9|c.953C>G||||||,C|upstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.-1C>G|||||2244|,C|upstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.-1C>G|||||343|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding||c.*2919G>C|||||3290|,C|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding||c.*2968G>C|||||3288|,C|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron||n.*4789G>C|||||1459|,C|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.*884G>C|||||3290|,C|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000473077|retained_intron||n.*555C>G|||||4253|,C|non_coding_exon_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron|3/5|n.705C>G|||||| 22 30776122 . C A . . ANN=A|missense_variant|MODERATE|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding|7/9|c.937G>T|p.Ala313Ser|1012/1992|937/1134|313/377||,A|missense_variant|MODERATE|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding|7/8|c.748G>T|p.Ala250Ser|749/1651|748/1029|250/342||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|9/9|c.937G>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|6/9|c.937G>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|7/9|c.937G>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|8/9|c.937G>T||||||,A|upstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.-1G>T|||||2260|,A|upstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.-1G>T|||||359|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding||c.*2919C>A|||||3306|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding||c.*2968C>A|||||3304|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron||n.*4789C>A|||||1475|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.*884C>A|||||3306|,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000473077|retained_intron||n.*555G>T|||||4237|,A|non_coding_exon_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron|3/5|n.689G>T|||||| 22 30776129 . C T . . ANN=T|synonymous_variant|LOW|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding|7/9|c.930G>A|p.Leu310Leu|1005/1992|930/1134|310/377||,T|synonymous_variant|LOW|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding|7/8|c.741G>A|p.Leu247Leu|742/1651|741/1029|247/342||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|9/9|c.930G>A||||||,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|6/9|c.930G>A||||||,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|7/9|c.930G>A||||||,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|8/9|c.930G>A||||||,T|upstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.-1G>A|||||2267|,T|upstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.-1G>A|||||366|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding||c.*2919C>T|||||3313|,T|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding||c.*2968C>T|||||3311|,T|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron||n.*4789C>T|||||1482|,T|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.*884C>T|||||3313|,T|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000473077|retained_intron||n.*555G>A|||||4230|,T|non_coding_exon_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron|3/5|n.682G>A|||||| 22 30776173 . C T . . ANN=T|missense_variant|MODERATE|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding|7/9|c.886G>A|p.Val296Met|961/1992|886/1134|296/377||,T|missense_variant|MODERATE|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding|7/8|c.697G>A|p.Val233Met|698/1651|697/1029|233/342||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|9/9|c.886G>A||||||,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|6/9|c.886G>A||||||,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|7/9|c.886G>A||||||,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|8/9|c.886G>A||||||,T|upstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.-1G>A|||||2311|,T|upstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.-1G>A|||||410|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding||c.*2919C>T|||||3357|,T|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding||c.*2968C>T|||||3355|,T|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron||n.*4789C>T|||||1526|,T|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.*884C>T|||||3357|,T|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000473077|retained_intron||n.*555G>A|||||4186|,T|non_coding_exon_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron|3/5|n.638G>A|||||| 22 30776199 . G C . . ANN=C|splice_region_variant&intron_variant|LOW|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding|6/8|c.865-5C>G||||||,C|splice_region_variant&intron_variant|LOW|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding|6/7|c.676-5C>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|splice_region_variant&intron_variant|LOW|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron|2/4|n.617-5C>G||||||,C|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|9/9|c.865-5C>G||||||,C|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|6/9|c.865-5C>G||||||,C|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|7/9|c.865-5C>G||||||,C|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|8/9|c.865-5C>G||||||,C|upstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.-1C>G|||||2337|,C|upstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.-1C>G|||||436|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding||c.*2919G>C|||||3383|,C|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding||c.*2968G>C|||||3381|,C|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron||n.*4789G>C|||||1552|,C|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.*884G>C|||||3383|,C|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000473077|retained_intron||n.*555C>G|||||4160| 22 30776328 . G A . . ANN=A|synonymous_variant|LOW|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding|6/9|c.807C>T|p.Leu269Leu|882/1992|807/1134|269/377||,A|synonymous_variant|LOW|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding|6/8|c.618C>T|p.Leu206Leu|619/1651|618/1029|206/342||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|RNF215|ENSG00000099999|transmembrane_region:Transmembrane_region|ENST00000382363|protein_coding|6/9|c.807C>T||||||,A|upstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.-1C>T|||||2466|,A|upstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.-1C>T|||||565|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding||c.*2919G>A|||||3512|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding||c.*2968G>A|||||3510|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron||n.*4789G>A|||||1681|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.*884G>A|||||3512|,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000473077|retained_intron||n.*555C>T|||||4031|,A|non_coding_exon_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron|2/5|n.559C>T|||||| 22 30776357 . G A . . ANN=A|synonymous_variant|LOW|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding|6/9|c.778C>T|p.Leu260Leu|853/1992|778/1134|260/377||,A|synonymous_variant|LOW|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding|6/8|c.589C>T|p.Leu197Leu|590/1651|589/1029|197/342||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|RNF215|ENSG00000099999|transmembrane_region:Transmembrane_region|ENST00000382363|protein_coding|6/9|c.778C>T||||||,A|upstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.-1C>T|||||2495|,A|upstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.-1C>T|||||594|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding||c.*2919G>A|||||3541|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding||c.*2968G>A|||||3539|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron||n.*4789G>A|||||1710|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.*884G>A|||||3541|,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000473077|retained_intron||n.*555C>T|||||4002|,A|non_coding_exon_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron|2/5|n.530C>T|||||| 22 30776404 . C T . . ANN=T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|2/9|c.745-14G>A||||||,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|5/9|c.745-14G>A||||||,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|4/9|c.745-14G>A||||||,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|3/9|c.745-14G>A||||||,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|6/9|c.745-14G>A||||||,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|1/9|c.745-14G>A||||||,T|upstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.-1G>A|||||2542|,T|upstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.-1G>A|||||641|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding||c.*2919C>T|||||3588|,T|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding||c.*2968C>T|||||3586|,T|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron||n.*4789C>T|||||1757|,T|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.*884C>T|||||3588|,T|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000473077|retained_intron||n.*555G>A|||||3955|,T|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding|5/8|c.745-14G>A||||||,T|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding|5/7|c.556-14G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron|1/4|n.497-14G>A|||||| 22 30776419 . T C . . ANN=C|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|2/9|c.745-29A>G||||||,C|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|5/9|c.745-29A>G||||||,C|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|4/9|c.745-29A>G||||||,C|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|3/9|c.745-29A>G||||||,C|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|6/9|c.745-29A>G||||||,C|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|1/9|c.745-29A>G||||||,C|upstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.-1A>G|||||2557|,C|upstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.-1A>G|||||656|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding||c.*2919T>C|||||3603|,C|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding||c.*2968T>C|||||3601|,C|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron||n.*4789T>C|||||1772|,C|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.*884T>C|||||3603|,C|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000473077|retained_intron||n.*555A>G|||||3940|,C|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding|5/8|c.745-29A>G||||||,C|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding|5/7|c.556-29A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron|1/4|n.497-29A>G|||||| 22 30780285 . G A . . ANN=A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|2/9|c.744+43C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|5/9|c.744+43C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|4/9|c.744+43C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|3/9|c.744+43C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|6/9|c.744+43C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|1/9|c.744+43C>T||||||,A|upstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.-1C>T|||||4522|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000473077|retained_intron||n.*555C>T|||||74|,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding||c.*535C>T|||||1611|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding|5/8|c.744+43C>T||||||,A|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding|5/7|c.555+43C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron|1/4|n.496+43C>T|||||| 22 30780307 . A G . . ANN=G|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|2/9|c.744+21T>C||||||,G|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|5/9|c.744+21T>C||||||,G|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|4/9|c.744+21T>C||||||,G|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|3/9|c.744+21T>C||||||,G|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|6/9|c.744+21T>C||||||,G|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|1/9|c.744+21T>C||||||,G|upstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.-1T>C|||||4544|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000473077|retained_intron||n.*555T>C|||||52|,G|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding||c.*535T>C|||||1589|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding|5/8|c.744+21T>C||||||,G|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding|5/7|c.555+21T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron|1/4|n.496+21T>C|||||| 22 30780351 . C T . . ANN=T|missense_variant|MODERATE|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding|5/9|c.721G>A|p.Gly241Arg|796/1992|721/1134|241/377||,T|missense_variant|MODERATE|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding|5/8|c.532G>A|p.Gly178Arg|533/1651|532/1029|178/342||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|2/9|c.721G>A||||||,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|5/9|c.721G>A||||||,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|4/9|c.721G>A||||||,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|3/9|c.721G>A||||||,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|6/9|c.721G>A||||||,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|1/9|c.721G>A||||||,T|upstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.-1G>A|||||4588|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000473077|retained_intron||n.*555G>A|||||8|,T|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding||c.*535G>A|||||1545|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron|1/5|n.473G>A|||||| 22 30780397 . G A . . ANN=A|synonymous_variant|LOW|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding|5/9|c.675C>T|p.Gly225Gly|750/1992|675/1134|225/377||,A|synonymous_variant|LOW|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding|5/8|c.486C>T|p.Gly162Gly|487/1651|486/1029|162/342||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|2/9|c.675C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|5/9|c.675C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|4/9|c.675C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|3/9|c.675C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|6/9|c.675C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|1/9|c.675C>T||||||,A|upstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.-1C>T|||||4634|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding||c.*535C>T|||||1499|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron|1/5|n.427C>T||||||,A|non_coding_exon_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000473077|retained_intron|4/4|n.517C>T|||||| 22 30780416 . G T . . ANN=T|missense_variant|MODERATE|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding|5/9|c.656C>A|p.Thr219Asn|731/1992|656/1134|219/377||,T|missense_variant|MODERATE|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding|5/8|c.467C>A|p.Thr156Asn|468/1651|467/1029|156/342||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|2/9|c.656C>A||||||,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|5/9|c.656C>A||||||,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|4/9|c.656C>A||||||,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|3/9|c.656C>A||||||,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|6/9|c.656C>A||||||,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|1/9|c.656C>A||||||,T|upstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.-1C>A|||||4653|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding||c.*535C>A|||||1480|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron|1/5|n.408C>A||||||,T|non_coding_exon_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000473077|retained_intron|4/4|n.498C>A|||||| 22 30780493 . G T . . ANN=T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|2/9|c.588-9C>A||||||,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|5/9|c.588-9C>A||||||,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|4/9|c.588-9C>A||||||,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|3/9|c.588-9C>A||||||,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|6/9|c.588-9C>A||||||,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|1/9|c.588-9C>A||||||,T|upstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.-1C>A|||||4730|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding||c.*535C>A|||||1403|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding|4/8|c.588-9C>A||||||,T|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding|4/7|c.399-9C>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000473077|retained_intron|3/3|n.430-9C>A||||||,T|non_coding_exon_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron|1/5|n.331C>A|||||| 22 30780503 . G A . . ANN=A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|2/9|c.588-19C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|5/9|c.588-19C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|4/9|c.588-19C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|3/9|c.588-19C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|6/9|c.588-19C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|1/9|c.588-19C>T||||||,A|upstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.-1C>T|||||4740|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding||c.*535C>T|||||1393|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding|4/8|c.588-19C>T||||||,A|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding|4/7|c.399-19C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000473077|retained_intron|3/3|n.430-19C>T||||||,A|non_coding_exon_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron|1/5|n.321C>T|||||| 22 30780517 . G A . . ANN=A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|2/9|c.588-33C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|5/9|c.588-33C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|4/9|c.588-33C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|3/9|c.588-33C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|6/9|c.588-33C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|1/9|c.588-33C>T||||||,A|upstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.-1C>T|||||4754|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding||c.*535C>T|||||1379|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding|4/8|c.588-33C>T||||||,A|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding|4/7|c.399-33C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000473077|retained_intron|3/3|n.430-33C>T||||||,A|non_coding_exon_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron|1/5|n.307C>T|||||| 22 30782001 . G A . . ANN=A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|2/9|c.502-23C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|5/9|c.502-23C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|4/9|c.502-23C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|3/9|c.502-23C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|6/9|c.502-23C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|1/9|c.502-23C>T||||||,A|upstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron||n.-1C>T|||||1178|,A|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding|3/8|c.502-23C>T||||||,A|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding|3/7|c.313-23C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000473077|retained_intron|2/3|n.344-23C>T||||||,A|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding|4/4|c.217-23C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 30782002 . C A . . ANN=A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|2/9|c.502-24G>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|5/9|c.502-24G>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|4/9|c.502-24G>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|3/9|c.502-24G>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|6/9|c.502-24G>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|1/9|c.502-24G>T||||||,A|upstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron||n.-1G>T|||||1179|,A|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding|3/8|c.502-24G>T||||||,A|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding|3/7|c.313-24G>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000473077|retained_intron|2/3|n.344-24G>T||||||,A|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding|4/4|c.217-24G>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 30782043 . G A . . ANN=A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|2/9|c.501+16C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|5/9|c.501+16C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|4/9|c.501+16C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|3/9|c.501+16C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|6/9|c.501+16C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|1/9|c.501+16C>T||||||,A|upstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron||n.-1C>T|||||1220|,A|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding|3/8|c.501+16C>T||||||,A|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding|3/7|c.312+16C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000473077|retained_intron|2/3|n.343+16C>T||||||,A|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding|4/4|c.216+16C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 30782089 . A G . . ANN=G|synonymous_variant|LOW|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding|3/9|c.471T>C|p.Leu157Leu|546/1992|471/1134|157/377||,G|synonymous_variant|LOW|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding|3/8|c.282T>C|p.Leu94Leu|283/1651|282/1029|94/342||WARNING_TRANSCRIPT_NO_START_CODON,G|synonymous_variant|LOW|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding|4/5|c.186T>C|p.Leu62Leu|422/535|186/299|62/98||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|2/9|c.471T>C||||||,G|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|5/9|c.471T>C||||||,G|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|4/9|c.471T>C||||||,G|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|3/9|c.471T>C||||||,G|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|6/9|c.471T>C||||||,G|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|1/9|c.471T>C||||||,G|upstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron||n.-1T>C|||||1266|,G|non_coding_exon_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000473077|retained_intron|2/4|n.313T>C|||||| 22 30782672 . G A . . ANN=A|missense_variant|MODERATE|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding|2/9|c.362C>T|p.Ala121Val|437/1992|362/1134|121/377||,A|missense_variant|MODERATE|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding|2/8|c.173C>T|p.Ala58Val|174/1651|173/1029|58/342||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding|3/5|c.77C>T|p.Ala26Val|313/535|77/299|26/98||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|2/9|c.362C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|5/9|c.362C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|4/9|c.362C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|3/9|c.362C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|6/9|c.362C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|1/9|c.362C>T||||||,A|upstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron||n.-1C>T|||||1849|,A|non_coding_exon_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000473077|retained_intron|1/4|n.204C>T|||||| 22 30782722 . C T . . ANN=T|synonymous_variant|LOW|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding|2/9|c.312G>A|p.Glu104Glu|387/1992|312/1134|104/377||,T|synonymous_variant|LOW|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding|2/8|c.123G>A|p.Glu41Glu|124/1651|123/1029|41/342||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding|3/5|c.27G>A|p.Glu9Glu|263/535|27/299|9/98||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|2/9|c.312G>A||||||,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|5/9|c.312G>A||||||,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|4/9|c.312G>A||||||,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|3/9|c.312G>A||||||,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|6/9|c.312G>A||||||,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|1/9|c.312G>A||||||,T|upstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron||n.-1G>A|||||1899|,T|non_coding_exon_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000473077|retained_intron|1/4|n.154G>A|||||| 22 30782731 . G A . . ANN=A|synonymous_variant|LOW|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding|2/9|c.303C>T|p.Ala101Ala|378/1992|303/1134|101/377||,A|synonymous_variant|LOW|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding|2/8|c.114C>T|p.Ala38Ala|115/1651|114/1029|38/342||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding|3/5|c.18C>T|p.Ala6Ala|254/535|18/299|6/98||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|2/9|c.303C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|5/9|c.303C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|4/9|c.303C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|3/9|c.303C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|6/9|c.303C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|1/9|c.303C>T||||||,A|upstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron||n.-1C>T|||||1908|,A|non_coding_exon_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000473077|retained_intron|1/4|n.145C>T|||||| 22 30793065 . C T . . ANN=T|5_prime_UTR_premature_start_codon_gain_variant|LOW|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding|1/12|c.-41C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|SEC14L2|ENSG00000100003|transcript|ENST00000428195|protein_coding|1/8|c.-127C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding|1/10|c.-127C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|SEC14L2|ENSG00000100003|transcript|ENST00000437022|nonsense_mediated_decay|1/6|n.-41C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|SEC14L2|ENSG00000100003|transcript|ENST00000452649|nonsense_mediated_decay|1/6|n.-41C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|SEC14L2|ENSG00000100003|transcript|ENST00000405717|protein_coding|1/11|c.-41C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding|1/10|c.-41C>T||||||,T|5_prime_UTR_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding|1/12|c.-41C>T|||||41|,T|5_prime_UTR_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000428195|protein_coding|1/8|c.-127C>T|||||9298|WARNING_TRANSCRIPT_NO_STOP_CODON,T|5_prime_UTR_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding|1/10|c.-127C>T|||||9298|,T|5_prime_UTR_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000437022|nonsense_mediated_decay|1/6|n.-41C>T|||||41|,T|5_prime_UTR_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000452649|nonsense_mediated_decay|1/6|n.-41C>T|||||41|,T|5_prime_UTR_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000405717|protein_coding|1/11|c.-41C>T|||||41|,T|5_prime_UTR_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding|1/10|c.-41C>T|||||41|,T|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000429917|protein_coding||c.-312C>T|||||462|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000415072|protein_coding||c.-111C>T|||||1501|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000484486|processed_transcript||n.-1C>T|||||2608|,T|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000485482|processed_transcript||n.-1C>T|||||2608|,T|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000464335|retained_intron||n.-1C>T|||||2608|,T|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding|1/4|c.-125-8797G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron|1/11|n.82C>T||||||,T|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000416523|processed_transcript|1/6|n.59C>T||||||,T|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000437022|nonsense_mediated_decay|1/6|n.-41C>T||||||,T|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000452649|nonsense_mediated_decay|1/6|n.-41C>T||||||,T|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000459728|processed_transcript|1/7|n.26C>T|||||| 22 30793091 . C A . . ANN=A|5_prime_UTR_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding|1/12|c.-15C>A|||||15|,A|5_prime_UTR_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000428195|protein_coding|1/8|c.-101C>A|||||9272|WARNING_TRANSCRIPT_NO_STOP_CODON,A|5_prime_UTR_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding|1/10|c.-101C>A|||||9272|,A|5_prime_UTR_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000437022|nonsense_mediated_decay|1/6|n.-15C>A|||||15|,A|5_prime_UTR_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000452649|nonsense_mediated_decay|1/6|n.-15C>A|||||15|,A|5_prime_UTR_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000405717|protein_coding|1/11|c.-15C>A|||||15|,A|5_prime_UTR_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding|1/10|c.-15C>A|||||15|,A|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000429917|protein_coding||c.-312C>A|||||436|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000415072|protein_coding||c.-111C>A|||||1475|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000484486|processed_transcript||n.-1C>A|||||2582|,A|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000485482|processed_transcript||n.-1C>A|||||2582|,A|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000464335|retained_intron||n.-1C>A|||||2582|,A|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding|1/4|c.-125-8823G>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron|1/11|n.108C>A||||||,A|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000416523|processed_transcript|1/6|n.85C>A||||||,A|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000437022|nonsense_mediated_decay|1/6|n.-15C>A||||||,A|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000452649|nonsense_mediated_decay|1/6|n.-15C>A||||||,A|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000459728|processed_transcript|1/7|n.52C>A|||||| 22 30793103 . A G . . ANN=G|5_prime_UTR_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding|1/12|c.-3A>G|||||3|,G|5_prime_UTR_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000428195|protein_coding|1/8|c.-89A>G|||||9260|WARNING_TRANSCRIPT_NO_STOP_CODON,G|5_prime_UTR_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding|1/10|c.-89A>G|||||9260|,G|5_prime_UTR_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000437022|nonsense_mediated_decay|1/6|n.-3A>G|||||3|,G|5_prime_UTR_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000452649|nonsense_mediated_decay|1/6|n.-3A>G|||||3|,G|5_prime_UTR_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000405717|protein_coding|1/11|c.-3A>G|||||3|,G|5_prime_UTR_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding|1/10|c.-3A>G|||||3|,G|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000429917|protein_coding||c.-312A>G|||||424|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000415072|protein_coding||c.-111A>G|||||1463|WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000484486|processed_transcript||n.-1A>G|||||2570|,G|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000485482|processed_transcript||n.-1A>G|||||2570|,G|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000464335|retained_intron||n.-1A>G|||||2570|,G|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding|1/4|c.-125-8835T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron|1/11|n.120A>G||||||,G|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000416523|processed_transcript|1/6|n.97A>G||||||,G|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000437022|nonsense_mediated_decay|1/6|n.-3A>G||||||,G|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000452649|nonsense_mediated_decay|1/6|n.-3A>G||||||,G|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000459728|processed_transcript|1/7|n.64A>G|||||| 22 30793137 . G A . . ANN=A|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding|1/12|c.32G>A|p.Arg11Lys|292/4381|32/1212|11/403||,A|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000405717|protein_coding|1/11|c.32G>A|p.Arg11Lys|112/1733|32/1179|11/392||,A|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding|1/10|c.32G>A|p.Arg11Lys|104/1229|32/963|11/320||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000312932|protein_coding|2/12|c.32G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000312932|protein_coding|1/12|c.32G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000405717|protein_coding|2/11|c.32G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000405717|protein_coding|1/11|c.32G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000402592|protein_coding|2/10|c.32G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000402592|protein_coding|1/10|c.32G>A||||||,A|5_prime_UTR_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000428195|protein_coding|1/8|c.-55G>A|||||9226|WARNING_TRANSCRIPT_NO_STOP_CODON,A|5_prime_UTR_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding|1/10|c.-55G>A|||||9226|,A|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000429917|protein_coding||c.-312G>A|||||390|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000415072|protein_coding||c.-111G>A|||||1429|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000484486|processed_transcript||n.-1G>A|||||2536|,A|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000485482|processed_transcript||n.-1G>A|||||2536|,A|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000464335|retained_intron||n.-1G>A|||||2536|,A|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding|1/4|c.-125-8869C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron|1/11|n.154G>A||||||,A|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000416523|processed_transcript|1/6|n.131G>A||||||,A|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000437022|nonsense_mediated_decay|1/6|n.32G>A||||||,A|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000452649|nonsense_mediated_decay|1/6|n.32G>A||||||,A|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000459728|processed_transcript|1/7|n.98G>A|||||| 22 30795636 . G A . . ANN=A|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding|2/12|c.59G>A|p.Arg20Gln|319/4381|59/1212|20/403||,A|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000405717|protein_coding|2/11|c.59G>A|p.Arg20Gln|139/1733|59/1179|20/392||,A|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding|2/10|c.59G>A|p.Arg20Gln|131/1229|59/963|20/320||,A|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000415072|protein_coding|2/5|c.137G>A|p.Arg46Gln|247/485|137/375|46/124||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000312932|protein_coding|2/12|c.59G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000312932|protein_coding|1/12|c.59G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000405717|protein_coding|2/11|c.59G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000405717|protein_coding|1/11|c.59G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000402592|protein_coding|2/10|c.59G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000402592|protein_coding|1/10|c.59G>A||||||,A|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000484486|processed_transcript||n.-1G>A|||||37|,A|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000485482|processed_transcript||n.-1G>A|||||37|,A|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000464335|retained_intron||n.-1G>A|||||37|,A|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding|1/4|c.-125-11368C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000428195|protein_coding|1/7|c.-33+2477G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding|1/9|c.-33+2477G>A||||||,A|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000452649|nonsense_mediated_decay|1/5|n.54+2477G>A||||||,A|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000429917|protein_coding|1/3|c.22+1777G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron|2/11|n.181G>A||||||,A|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000416523|processed_transcript|2/6|n.158G>A||||||,A|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000437022|nonsense_mediated_decay|2/6|n.59G>A||||||,A|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000459728|processed_transcript|3/7|n.247G>A|||||| 22 30795742 . G C . . ANN=C|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000312932|protein_coding|2/12|c.130+35G>C||||||,C|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000312932|protein_coding|3/12|c.130+35G>C||||||,C|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000405717|protein_coding|2/11|c.130+35G>C||||||,C|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000405717|protein_coding|3/11|c.130+35G>C||||||,C|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000402592|protein_coding|2/10|c.130+35G>C||||||,C|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000402592|protein_coding|3/10|c.130+35G>C||||||,C|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding|2/11|c.130+35G>C||||||,C|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding|1/4|c.-125-11474C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000428195|protein_coding|1/7|c.-33+2583G>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding|1/9|c.-33+2583G>C||||||,C|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron|2/10|n.252+35G>C||||||,C|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000416523|processed_transcript|2/5|n.229+35G>C||||||,C|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000437022|nonsense_mediated_decay|2/5|n.130+35G>C||||||,C|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000452649|nonsense_mediated_decay|1/5|n.54+2583G>C||||||,C|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000405717|protein_coding|2/10|c.130+35G>C||||||,C|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding|2/9|c.130+35G>C||||||,C|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000459728|processed_transcript|3/6|n.318+35G>C||||||,C|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000429917|protein_coding|1/3|c.22+1883G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000415072|protein_coding|2/4|c.208+35G>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000484486|processed_transcript|1/1|n.35+35G>C||||||,C|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000485482|processed_transcript|1/1|n.35+35G>C||||||,C|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000464335|retained_intron|1/8|n.35+35G>C|||||| 22 30802297 . C A . . ANN=A|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000312932|protein_coding|2/12|c.131-34C>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000312932|protein_coding|3/12|c.131-34C>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000405717|protein_coding|2/11|c.131-34C>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000405717|protein_coding|3/11|c.131-34C>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000402592|protein_coding|2/10|c.131-34C>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000402592|protein_coding|3/10|c.131-34C>A||||||,A|upstream_gene_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding||c.-1C>A|||||2954|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000483116|retained_intron||n.-1C>A|||||2714|,A|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron||n.-1C>A|||||2807|,A|upstream_gene_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay||n.-2C>A|||||2947|,A|upstream_gene_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding||c.-3C>A|||||2955|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding|2/11|c.131-34C>A||||||,A|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding|1/4|c.-126+15353G>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000428195|protein_coding|1/7|c.-32-34C>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding|1/9|c.-32-34C>A||||||,A|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron|2/10|n.253-34C>A||||||,A|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000416523|processed_transcript|2/5|n.230-34C>A||||||,A|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000437022|nonsense_mediated_decay|2/5|n.131-34C>A||||||,A|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000452649|nonsense_mediated_decay|1/5|n.55-34C>A||||||,A|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000405717|protein_coding|2/10|c.131-34C>A||||||,A|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding|2/9|c.131-34C>A||||||,A|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000459728|processed_transcript|3/6|n.319-34C>A||||||,A|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000429917|protein_coding|1/3|c.23-34C>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000415072|protein_coding|2/4|c.209-34C>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000464335|retained_intron|1/8|n.36-34C>A|||||| 22 30802379 . G C . . ANN=C|splice_region_variant&intron_variant|LOW|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding|3/11|c.174+5G>C||||||,C|splice_region_variant&intron_variant|LOW|SEC14L2|ENSG00000100003|transcript|ENST00000428195|protein_coding|2/7|c.12+5G>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|splice_region_variant&intron_variant|LOW|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding|2/9|c.12+5G>C||||||,C|splice_region_variant&intron_variant|LOW|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron|3/10|n.296+5G>C||||||,C|splice_region_variant&intron_variant|LOW|SEC14L2|ENSG00000100003|transcript|ENST00000416523|processed_transcript|3/5|n.273+5G>C||||||,C|splice_region_variant&intron_variant|LOW|SEC14L2|ENSG00000100003|transcript|ENST00000437022|nonsense_mediated_decay|3/5|n.174+5G>C||||||,C|splice_region_variant&intron_variant|LOW|SEC14L2|ENSG00000100003|transcript|ENST00000452649|nonsense_mediated_decay|2/5|n.98+5G>C||||||,C|splice_region_variant&intron_variant|LOW|SEC14L2|ENSG00000100003|transcript|ENST00000405717|protein_coding|3/10|c.174+5G>C||||||,C|splice_region_variant&intron_variant|LOW|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding|3/9|c.174+5G>C||||||,C|splice_region_variant&intron_variant|LOW|SEC14L2|ENSG00000100003|transcript|ENST00000459728|processed_transcript|4/6|n.362+5G>C||||||,C|splice_region_variant&intron_variant|LOW|SEC14L2|ENSG00000100003|transcript|ENST00000429917|protein_coding|2/3|c.66+5G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|splice_region_variant&intron_variant|LOW|SEC14L2|ENSG00000100003|transcript|ENST00000415072|protein_coding|3/4|c.252+5G>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|splice_region_variant&intron_variant|LOW|SEC14L2|ENSG00000100003|transcript|ENST00000464335|retained_intron|2/8|n.79+5G>C||||||,C|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000312932|protein_coding|4/12|c.174+5G>C||||||,C|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000312932|protein_coding|3/12|c.174+5G>C||||||,C|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000405717|protein_coding|4/11|c.174+5G>C||||||,C|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000405717|protein_coding|3/11|c.174+5G>C||||||,C|upstream_gene_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding||c.-1G>C|||||2872|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000483116|retained_intron||n.-1G>C|||||2632|,C|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron||n.-1G>C|||||2725|,C|upstream_gene_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay||n.-2G>C|||||2865|,C|upstream_gene_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding||c.-3G>C|||||2873|WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding|1/4|c.-126+15271C>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 30803096 . C T . . ANN=T|stop_gained|HIGH|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding|4/12|c.187C>T|p.Arg63*|447/4381|187/1212|63/403||,T|stop_gained|HIGH|SEC14L2|ENSG00000100003|transcript|ENST00000428195|protein_coding|3/8|c.25C>T|p.Arg9*|287/871|25/609|9/202||WARNING_TRANSCRIPT_NO_STOP_CODON,T|stop_gained|HIGH|SEC14L2|ENSG00000100003|transcript|ENST00000405717|protein_coding|4/11|c.187C>T|p.Arg63*|267/1733|187/1179|63/392||,T|stop_gained|HIGH|SEC14L2|ENSG00000100003|transcript|ENST00000429917|protein_coding|3/4|c.79C>T|p.Arg27*|390/565|79/254|27/83||WARNING_TRANSCRIPT_INCOMPLETE,T|stop_gained|HIGH|SEC14L2|ENSG00000100003|transcript|ENST00000415072|protein_coding|4/5|c.265C>T|p.Arg89*|375/485|265/375|89/124||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000312932|protein_coding|4/12|c.187C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000312932|protein_coding|3/12|c.187C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000405717|protein_coding|4/11|c.187C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000405717|protein_coding|3/11|c.187C>T||||||,T|upstream_gene_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding||c.-1C>T|||||2155|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000483116|retained_intron||n.-1C>T|||||1915|,T|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron||n.-1C>T|||||2008|,T|upstream_gene_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay||n.-2C>T|||||2148|,T|upstream_gene_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding||c.-3C>T|||||2156|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding|1/4|c.-126+14554G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding|2/9|c.13-308C>T||||||,T|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding|3/9|c.174+722C>T||||||,T|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron|4/11|n.309C>T||||||,T|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000416523|processed_transcript|4/6|n.286C>T||||||,T|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000437022|nonsense_mediated_decay|4/6|n.187C>T||||||,T|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000452649|nonsense_mediated_decay|3/6|n.111C>T||||||,T|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000459728|processed_transcript|5/7|n.375C>T||||||,T|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000464335|retained_intron|3/9|n.92C>T||||||;LOF=(SEC14L2|ENSG00000100003|17|0.18);NMD=(SEC14L2|ENSG00000100003|17|0.18) 22 30803114 . G A . . ANN=A|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding|4/12|c.205G>A|p.Asp69Asn|465/4381|205/1212|69/403||,A|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000428195|protein_coding|3/8|c.43G>A|p.Asp15Asn|305/871|43/609|15/202||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000405717|protein_coding|4/11|c.205G>A|p.Asp69Asn|285/1733|205/1179|69/392||,A|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000429917|protein_coding|3/4|c.97G>A|p.Asp33Asn|408/565|97/254|33/83||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000415072|protein_coding|4/5|c.283G>A|p.Asp95Asn|393/485|283/375|95/124||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000312932|protein_coding|4/12|c.205G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000405717|protein_coding|4/11|c.205G>A||||||,A|upstream_gene_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding||c.-1G>A|||||2137|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000483116|retained_intron||n.-1G>A|||||1897|,A|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron||n.-1G>A|||||1990|,A|upstream_gene_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay||n.-2G>A|||||2130|,A|upstream_gene_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding||c.-3G>A|||||2138|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding|1/4|c.-126+14536C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding|2/9|c.13-290G>A||||||,A|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding|3/9|c.174+740G>A||||||,A|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron|4/11|n.327G>A||||||,A|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000416523|processed_transcript|4/6|n.304G>A||||||,A|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000437022|nonsense_mediated_decay|4/6|n.205G>A||||||,A|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000452649|nonsense_mediated_decay|3/6|n.129G>A||||||,A|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000459728|processed_transcript|5/7|n.393G>A||||||,A|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000464335|retained_intron|3/9|n.110G>A|||||| 22 30803123 . A G . . ANN=G|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding|4/12|c.214A>G|p.Ile72Val|474/4381|214/1212|72/403||,G|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000428195|protein_coding|3/8|c.52A>G|p.Ile18Val|314/871|52/609|18/202||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000405717|protein_coding|4/11|c.214A>G|p.Ile72Val|294/1733|214/1179|72/392||,G|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000429917|protein_coding|3/4|c.106A>G|p.Ile36Val|417/565|106/254|36/83||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000415072|protein_coding|4/5|c.292A>G|p.Ile98Val|402/485|292/375|98/124||WARNING_TRANSCRIPT_NO_STOP_CODON,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000312932|protein_coding|4/12|c.214A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000405717|protein_coding|4/11|c.214A>G||||||,G|upstream_gene_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding||c.-1A>G|||||2128|WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000483116|retained_intron||n.-1A>G|||||1888|,G|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron||n.-1A>G|||||1981|,G|upstream_gene_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay||n.-2A>G|||||2121|,G|upstream_gene_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding||c.-3A>G|||||2129|WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding|1/4|c.-126+14527T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding|2/9|c.13-281A>G||||||,G|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding|3/9|c.174+749A>G||||||,G|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron|4/11|n.336A>G||||||,G|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000416523|processed_transcript|4/6|n.313A>G||||||,G|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000437022|nonsense_mediated_decay|4/6|n.214A>G||||||,G|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000452649|nonsense_mediated_decay|3/6|n.138A>G||||||,G|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000459728|processed_transcript|5/7|n.402A>G||||||,G|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000464335|retained_intron|3/9|n.119A>G|||||| 22 30803159 . C T . . ANN=T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|6/12|c.234+16C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|4/12|c.234+16C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|5/12|c.234+16C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|8/12|c.234+16C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|7/12|c.234+16C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|9/12|c.234+16C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000312932|protein_coding|4/12|c.234+16C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000312932|protein_coding|5/12|c.234+16C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|6/11|c.234+16C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|4/11|c.234+16C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|5/11|c.234+16C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|8/11|c.234+16C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|7/11|c.234+16C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|9/11|c.234+16C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000405717|protein_coding|4/11|c.234+16C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000405717|protein_coding|5/11|c.234+16C>T||||||,T|upstream_gene_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding||c.-1C>T|||||2092|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000483116|retained_intron||n.-1C>T|||||1852|,T|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron||n.-1C>T|||||1945|,T|upstream_gene_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay||n.-2C>T|||||2085|,T|upstream_gene_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding||c.-3C>T|||||2093|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding|4/11|c.234+16C>T||||||,T|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding|1/4|c.-126+14491G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000428195|protein_coding|3/7|c.72+16C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding|2/9|c.13-245C>T||||||,T|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron|4/10|n.356+16C>T||||||,T|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000416523|processed_transcript|4/5|n.333+16C>T||||||,T|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000437022|nonsense_mediated_decay|4/5|n.234+16C>T||||||,T|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000452649|nonsense_mediated_decay|3/5|n.158+16C>T||||||,T|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000405717|protein_coding|4/10|c.234+16C>T||||||,T|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding|3/9|c.174+785C>T||||||,T|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000459728|processed_transcript|5/6|n.422+16C>T||||||,T|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000429917|protein_coding|3/3|c.126+16C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000415072|protein_coding|4/4|c.312+16C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000464335|retained_intron|3/8|n.139+16C>T|||||| 22 30803377 . A C . . ANN=C|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|6/12|c.235-27A>C||||||,C|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|4/12|c.235-27A>C||||||,C|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|5/12|c.235-27A>C||||||,C|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|8/12|c.235-27A>C||||||,C|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|7/12|c.235-27A>C||||||,C|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|9/12|c.235-27A>C||||||,C|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000312932|protein_coding|4/12|c.235-27A>C||||||,C|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000312932|protein_coding|5/12|c.235-27A>C||||||,C|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|6/11|c.235-27A>C||||||,C|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|4/11|c.235-27A>C||||||,C|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|5/11|c.235-27A>C||||||,C|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|8/11|c.235-27A>C||||||,C|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|7/11|c.235-27A>C||||||,C|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|9/11|c.235-27A>C||||||,C|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000405717|protein_coding|4/11|c.235-27A>C||||||,C|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000405717|protein_coding|5/11|c.235-27A>C||||||,C|upstream_gene_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding||c.-1A>C|||||1874|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000483116|retained_intron||n.-1A>C|||||1634|,C|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron||n.-1A>C|||||1727|,C|upstream_gene_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay||n.-2A>C|||||1867|,C|upstream_gene_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding||c.-3A>C|||||1875|WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding|4/11|c.235-27A>C||||||,C|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding|1/4|c.-126+14273T>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000428195|protein_coding|3/7|c.73-27A>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding|2/9|c.13-27A>C||||||,C|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron|4/10|n.357-136A>C||||||,C|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000416523|processed_transcript|4/5|n.334-27A>C||||||,C|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000437022|nonsense_mediated_decay|4/5|n.235-136A>C||||||,C|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000452649|nonsense_mediated_decay|3/5|n.159-27A>C||||||,C|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000405717|protein_coding|4/10|c.235-27A>C||||||,C|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding|3/9|c.174+1003A>C||||||,C|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000459728|processed_transcript|5/6|n.423-27A>C||||||,C|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000429917|protein_coding|3/3|c.127-27A>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000415072|protein_coding|4/4|c.313-27A>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000464335|retained_intron|3/8|n.140-27A>C|||||| 22 30803469 . C T . . ANN=T|synonymous_variant|LOW|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding|5/12|c.300C>T|p.Tyr100Tyr|560/4381|300/1212|100/403||,T|synonymous_variant|LOW|SEC14L2|ENSG00000100003|transcript|ENST00000428195|protein_coding|4/8|c.138C>T|p.Tyr46Tyr|400/871|138/609|46/202||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding|3/10|c.78C>T|p.Tyr26Tyr|289/2631|78/990|26/329||,T|synonymous_variant|LOW|SEC14L2|ENSG00000100003|transcript|ENST00000405717|protein_coding|5/11|c.300C>T|p.Tyr100Tyr|380/1733|300/1179|100/392||,T|synonymous_variant|LOW|SEC14L2|ENSG00000100003|transcript|ENST00000429917|protein_coding|4/4|c.192C>T|p.Tyr64Tyr|503/565|192/254|64/83||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|6/12|c.300C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|4/12|c.300C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|5/12|c.300C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|8/12|c.300C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|7/12|c.300C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|9/12|c.300C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|beta_strand|ENST00000312932|protein_coding|5/12|c.300C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|6/11|c.300C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|4/11|c.300C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|5/11|c.300C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|8/11|c.300C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|7/11|c.300C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|9/11|c.300C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|beta_strand|ENST00000405717|protein_coding|5/11|c.300C>T||||||,T|3_prime_UTR_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000452649|nonsense_mediated_decay|4/6|n.*62C>T|||||62|,T|upstream_gene_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding||c.-1C>T|||||1782|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000483116|retained_intron||n.-1C>T|||||1542|,T|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron||n.-1C>T|||||1635|,T|upstream_gene_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay||n.-2C>T|||||1775|,T|upstream_gene_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding||c.-3C>T|||||1783|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000415072|protein_coding||c.*485C>T|||||3|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding|1/4|c.-126+14181G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron|4/10|n.357-44C>T||||||,T|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000437022|nonsense_mediated_decay|4/5|n.235-44C>T||||||,T|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding|3/9|c.174+1095C>T||||||,T|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000416523|processed_transcript|5/6|n.399C>T||||||,T|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000452649|nonsense_mediated_decay|4/6|n.*62C>T||||||,T|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000459728|processed_transcript|6/7|n.488C>T||||||,T|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000464335|retained_intron|4/9|n.205C>T|||||| 22 30803508 . C G . . ANN=G|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding|5/12|c.339C>G|p.Phe113Leu|599/4381|339/1212|113/403||,G|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000428195|protein_coding|4/8|c.177C>G|p.Phe59Leu|439/871|177/609|59/202||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding|3/10|c.117C>G|p.Phe39Leu|328/2631|117/990|39/329||,G|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000405717|protein_coding|5/11|c.339C>G|p.Phe113Leu|419/1733|339/1179|113/392||,G|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000429917|protein_coding|4/4|c.231C>G|p.Phe77Leu|542/565|231/254|77/83||WARNING_TRANSCRIPT_INCOMPLETE,G|splice_region_variant&intron_variant|LOW|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron|4/10|n.357-5C>G||||||,G|splice_region_variant&intron_variant|LOW|SEC14L2|ENSG00000100003|transcript|ENST00000437022|nonsense_mediated_decay|4/5|n.235-5C>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|6/12|c.339C>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|4/12|c.339C>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|5/12|c.339C>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|8/12|c.339C>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|7/12|c.339C>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|9/12|c.339C>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|6/11|c.339C>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|4/11|c.339C>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|5/11|c.339C>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|8/11|c.339C>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|7/11|c.339C>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|9/11|c.339C>G||||||,G|3_prime_UTR_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000452649|nonsense_mediated_decay|4/6|n.*101C>G|||||101|,G|upstream_gene_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding||c.-1C>G|||||1743|WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000483116|retained_intron||n.-1C>G|||||1503|,G|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron||n.-1C>G|||||1596|,G|upstream_gene_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay||n.-2C>G|||||1736|,G|upstream_gene_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding||c.-3C>G|||||1744|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000415072|protein_coding||c.*485C>G|||||42|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding|1/4|c.-126+14142G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding|3/9|c.174+1134C>G||||||,G|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000416523|processed_transcript|5/6|n.438C>G||||||,G|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000452649|nonsense_mediated_decay|4/6|n.*101C>G||||||,G|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000459728|processed_transcript|6/7|n.527C>G||||||,G|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000464335|retained_intron|4/9|n.244C>G|||||| 22 30803555 . A G . . ANN=G|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding|5/12|c.386A>G|p.Glu129Gly|646/4381|386/1212|129/403||,G|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000428195|protein_coding|4/8|c.224A>G|p.Glu75Gly|486/871|224/609|75/202||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding|3/10|c.164A>G|p.Glu55Gly|375/2631|164/990|55/329||,G|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000405717|protein_coding|5/11|c.386A>G|p.Glu129Gly|466/1733|386/1179|129/392||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|6/12|c.386A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|4/12|c.386A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|5/12|c.386A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|8/12|c.386A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|7/12|c.386A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|9/12|c.386A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000312932|protein_coding|6/12|c.386A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000312932|protein_coding|5/12|c.386A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|6/11|c.386A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|4/11|c.386A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|5/11|c.386A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|8/11|c.386A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|7/11|c.386A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|9/11|c.386A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000405717|protein_coding|6/11|c.386A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000405717|protein_coding|5/11|c.386A>G||||||,G|3_prime_UTR_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000437022|nonsense_mediated_decay|5/6|n.*22A>G|||||22|,G|3_prime_UTR_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000452649|nonsense_mediated_decay|4/6|n.*148A>G|||||148|,G|upstream_gene_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding||c.-1A>G|||||1696|WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000483116|retained_intron||n.-1A>G|||||1456|,G|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron||n.-1A>G|||||1549|,G|upstream_gene_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay||n.-2A>G|||||1689|,G|upstream_gene_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding||c.-3A>G|||||1697|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000429917|protein_coding||c.*565A>G|||||24|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000415072|protein_coding||c.*485A>G|||||89|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding|1/4|c.-126+14095T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding|3/9|c.174+1181A>G||||||,G|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron|5/11|n.399A>G||||||,G|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000416523|processed_transcript|5/6|n.485A>G||||||,G|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000437022|nonsense_mediated_decay|5/6|n.*22A>G||||||,G|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000452649|nonsense_mediated_decay|4/6|n.*148A>G||||||,G|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000459728|processed_transcript|6/7|n.574A>G||||||,G|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000464335|retained_intron|4/9|n.291A>G|||||| 22 30803579 . A G . . ANN=G|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding|5/12|c.410A>G|p.His137Arg|670/4381|410/1212|137/403||,G|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000428195|protein_coding|4/8|c.248A>G|p.His83Arg|510/871|248/609|83/202||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding|3/10|c.188A>G|p.His63Arg|399/2631|188/990|63/329||,G|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000405717|protein_coding|5/11|c.410A>G|p.His137Arg|490/1733|410/1179|137/392||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|6/12|c.410A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|4/12|c.410A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|5/12|c.410A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|8/12|c.410A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|7/12|c.410A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|9/12|c.410A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000312932|protein_coding|6/12|c.410A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000312932|protein_coding|5/12|c.410A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|6/11|c.410A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|4/11|c.410A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|5/11|c.410A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|8/11|c.410A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|7/11|c.410A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|9/11|c.410A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000405717|protein_coding|6/11|c.410A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000405717|protein_coding|5/11|c.410A>G||||||,G|3_prime_UTR_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000437022|nonsense_mediated_decay|5/6|n.*46A>G|||||46|,G|3_prime_UTR_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000452649|nonsense_mediated_decay|4/6|n.*172A>G|||||172|,G|upstream_gene_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding||c.-1A>G|||||1672|WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000483116|retained_intron||n.-1A>G|||||1432|,G|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron||n.-1A>G|||||1525|,G|upstream_gene_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay||n.-2A>G|||||1665|,G|upstream_gene_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding||c.-3A>G|||||1673|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000429917|protein_coding||c.*565A>G|||||48|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000415072|protein_coding||c.*485A>G|||||113|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding|1/4|c.-126+14071T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding|3/9|c.174+1205A>G||||||,G|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron|5/11|n.423A>G||||||,G|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000416523|processed_transcript|5/6|n.509A>G||||||,G|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000437022|nonsense_mediated_decay|5/6|n.*46A>G||||||,G|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000452649|nonsense_mediated_decay|4/6|n.*172A>G||||||,G|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000459728|processed_transcript|6/7|n.598A>G||||||,G|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000464335|retained_intron|4/9|n.315A>G|||||| 22 30803627 . C T . . ANN=T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|6/12|c.423+35C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|4/12|c.423+35C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|5/12|c.423+35C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|8/12|c.423+35C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|7/12|c.423+35C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|9/12|c.423+35C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000312932|protein_coding|6/12|c.423+35C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000312932|protein_coding|5/12|c.423+35C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|6/11|c.423+35C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|4/11|c.423+35C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|5/11|c.423+35C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|8/11|c.423+35C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|7/11|c.423+35C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|9/11|c.423+35C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000405717|protein_coding|6/11|c.423+35C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000405717|protein_coding|5/11|c.423+35C>T||||||,T|upstream_gene_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding||c.-1C>T|||||1624|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000483116|retained_intron||n.-1C>T|||||1384|,T|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron||n.-1C>T|||||1477|,T|upstream_gene_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay||n.-2C>T|||||1617|,T|upstream_gene_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding||c.-3C>T|||||1625|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000429917|protein_coding||c.*565C>T|||||96|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000415072|protein_coding||c.*485C>T|||||161|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding|5/11|c.423+35C>T||||||,T|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding|1/4|c.-126+14023G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000428195|protein_coding|4/7|c.261+35C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding|3/9|c.201+35C>T||||||,T|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron|5/10|n.436+35C>T||||||,T|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000416523|processed_transcript|5/5|n.522+35C>T||||||,T|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000437022|nonsense_mediated_decay|5/5|n.*59+35C>T||||||,T|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000452649|nonsense_mediated_decay|4/5|n.*185+35C>T||||||,T|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000405717|protein_coding|5/10|c.423+35C>T||||||,T|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding|3/9|c.174+1253C>T||||||,T|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000459728|processed_transcript|6/6|n.611+35C>T||||||,T|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000464335|retained_intron|4/8|n.328+35C>T|||||| 22 30805171 . T G . . ANN=G|splice_region_variant&intron_variant|LOW|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding|5/11|c.424-5T>G||||||,G|splice_region_variant&intron_variant|LOW|SEC14L2|ENSG00000100003|transcript|ENST00000428195|protein_coding|4/7|c.262-5T>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|splice_region_variant&intron_variant|LOW|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding|3/9|c.202-5T>G||||||,G|splice_region_variant&intron_variant|LOW|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron|5/10|n.437-5T>G||||||,G|splice_region_variant&intron_variant|LOW|SEC14L2|ENSG00000100003|transcript|ENST00000405717|protein_coding|5/10|c.424-5T>G||||||,G|splice_region_variant&intron_variant|LOW|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding|3/9|c.175-5T>G||||||,G|splice_region_variant&intron_variant|LOW|SEC14L2|ENSG00000100003|transcript|ENST00000459728|processed_transcript|6/6|n.612-5T>G||||||,G|splice_region_variant&intron_variant|LOW|SEC14L2|ENSG00000100003|transcript|ENST00000464335|retained_intron|4/8|n.329-5T>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|6/12|c.424-5T>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|4/12|c.424-5T>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|5/12|c.424-5T>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|8/12|c.424-5T>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|7/12|c.424-5T>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|9/12|c.424-5T>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000312932|protein_coding|6/12|c.424-5T>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000312932|protein_coding|5/12|c.424-5T>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|6/11|c.424-5T>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|4/11|c.424-5T>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|5/11|c.424-5T>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|8/11|c.424-5T>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|7/11|c.424-5T>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|9/11|c.424-5T>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000405717|protein_coding|6/11|c.424-5T>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000405717|protein_coding|5/11|c.424-5T>G||||||,G|3_prime_UTR_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000437022|nonsense_mediated_decay|6/6|n.*135T>G|||||1638|,G|3_prime_UTR_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000452649|nonsense_mediated_decay|5/6|n.*261T>G|||||1764|,G|upstream_gene_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding||c.-1T>G|||||80|WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay||n.-2T>G|||||73|,G|upstream_gene_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding||c.-3T>G|||||81|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000416523|processed_transcript||n.*552T>G|||||46|,G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000429917|protein_coding||c.*565T>G|||||1640|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000415072|protein_coding||c.*485T>G|||||1705|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding|1/4|c.-126+12479A>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000437022|nonsense_mediated_decay|6/6|n.*135T>G||||||,G|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000452649|nonsense_mediated_decay|5/6|n.*261T>G||||||,G|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000483116|retained_intron|1/5|n.161T>G||||||,G|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron|1/6|n.68T>G|||||| 22 30805295 . AG A . . ANN=|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|6/12|c.519+25delG||||||,|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|4/12|c.519+25delG||||||,|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|5/12|c.519+25delG||||||,|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|8/12|c.519+25delG||||||,|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|7/12|c.519+25delG||||||,|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|9/12|c.519+25delG||||||,|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000312932|protein_coding|6/12|c.519+25delG||||||,|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000312932|protein_coding|7/12|c.519+25delG||||||,|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|6/11|c.519+25delG||||||,|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|4/11|c.519+25delG||||||,|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|5/11|c.519+25delG||||||,|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|8/11|c.519+25delG||||||,|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|7/11|c.519+25delG||||||,|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|9/11|c.519+25delG||||||,|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000405717|protein_coding|6/11|c.519+25delG||||||,|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000405717|protein_coding|7/11|c.519+25delG||||||,|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000402592|protein_coding|4/10|c.270+25delG||||||,|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000402592|protein_coding|5/10|c.270+25delG||||||,|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000416523|processed_transcript||n.*552delG|||||171|,|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000437022|nonsense_mediated_decay||n.*354delG|||||58|,|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000459728|processed_transcript||n.*707delG|||||25|,|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000429917|protein_coding||c.*565delG|||||1765|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000415072|protein_coding||c.*485delG|||||1830|WARNING_TRANSCRIPT_NO_STOP_CODON,|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding|6/11|c.519+28delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding|1/8|c.21+28delG||||||WARNING_TRANSCRIPT_NO_START_CODON&INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding|1/4|c.-126+12354delC||||||WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000428195|protein_coding|5/7|c.357+28delG||||||WARNING_TRANSCRIPT_NO_STOP_CODON&INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding|4/9|c.297+28delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron|6/10|n.532+28delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000452649|nonsense_mediated_decay|5/5|n.*361+28delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000405717|protein_coding|6/10|c.519+28delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding|4/9|c.270+28delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000464335|retained_intron|5/8|n.424+28delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000483116|retained_intron|1/4|n.261+28delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron|1/5|n.168+28delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|1/4|n.27+28delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding|1/3|c.18+28delG||||||WARNING_TRANSCRIPT_NO_START_CODON&INFO_REALIGN_3_PRIME 22 30805444 . C T . . ANN=T|synonymous_variant|LOW|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding|7/12|c.549C>T|p.Pro183Pro|809/4381|549/1212|183/403||,T|synonymous_variant|LOW|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding|2/9|c.51C>T|p.Pro17Pro|51/1470|51/1017|17/338||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|SEC14L2|ENSG00000100003|transcript|ENST00000428195|protein_coding|6/8|c.387C>T|p.Pro129Pro|649/871|387/609|129/202||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding|5/10|c.327C>T|p.Pro109Pro|538/2631|327/990|109/329||,T|synonymous_variant|LOW|SEC14L2|ENSG00000100003|transcript|ENST00000405717|protein_coding|7/11|c.549C>T|p.Pro183Pro|629/1733|549/1179|183/392||,T|synonymous_variant|LOW|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding|5/10|c.300C>T|p.Pro100Pro|372/1229|300/963|100/320||,T|synonymous_variant|LOW|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding|2/4|c.48C>T|p.Pro16Pro|50/694|48/432|16/143||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|6/12|c.549C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|4/12|c.549C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|5/12|c.549C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|8/12|c.549C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|7/12|c.549C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|9/12|c.549C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|6/11|c.549C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|4/11|c.549C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|5/11|c.549C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|8/11|c.549C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|7/11|c.549C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|9/11|c.549C>T||||||,T|3_prime_UTR_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000452649|nonsense_mediated_decay|6/6|n.*391C>T|||||2037|,T|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000416523|processed_transcript||n.*552C>T|||||319|,T|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000437022|nonsense_mediated_decay||n.*354C>T|||||206|,T|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000459728|processed_transcript||n.*707C>T|||||173|,T|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000429917|protein_coding||c.*565C>T|||||1913|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000415072|protein_coding||c.*485C>T|||||1978|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding|1/4|c.-126+12206G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron|7/11|n.562C>T||||||,T|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000452649|nonsense_mediated_decay|6/6|n.*391C>T||||||,T|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000464335|retained_intron|6/9|n.454C>T||||||,T|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000483116|retained_intron|2/5|n.291C>T||||||,T|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron|2/6|n.198C>T||||||,T|non_coding_exon_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|2/5|n.57C>T|||||| 22 30805457 . C T . . ANN=T|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding|7/12|c.562C>T|p.Arg188Cys|822/4381|562/1212|188/403||,T|missense_variant|MODERATE|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding|2/9|c.64C>T|p.Arg22Cys|64/1470|64/1017|22/338||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000428195|protein_coding|6/8|c.400C>T|p.Arg134Cys|662/871|400/609|134/202||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding|5/10|c.340C>T|p.Arg114Cys|551/2631|340/990|114/329||,T|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000405717|protein_coding|7/11|c.562C>T|p.Arg188Cys|642/1733|562/1179|188/392||,T|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding|5/10|c.313C>T|p.Arg105Cys|385/1229|313/963|105/320||,T|missense_variant|MODERATE|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding|2/4|c.61C>T|p.Arg21Cys|63/694|61/432|21/143||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|6/12|c.562C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|4/12|c.562C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|5/12|c.562C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|8/12|c.562C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|7/12|c.562C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|9/12|c.562C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|beta_strand|ENST00000312932|protein_coding|7/12|c.562C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|6/11|c.562C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|4/11|c.562C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|5/11|c.562C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|8/11|c.562C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|7/11|c.562C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|9/11|c.562C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|beta_strand|ENST00000405717|protein_coding|7/11|c.562C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|beta_strand|ENST00000402592|protein_coding|5/10|c.313C>T||||||,T|3_prime_UTR_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000452649|nonsense_mediated_decay|6/6|n.*404C>T|||||2050|,T|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000416523|processed_transcript||n.*552C>T|||||332|,T|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000437022|nonsense_mediated_decay||n.*354C>T|||||219|,T|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000459728|processed_transcript||n.*707C>T|||||186|,T|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000429917|protein_coding||c.*565C>T|||||1926|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000415072|protein_coding||c.*485C>T|||||1991|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding|1/4|c.-126+12193G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron|7/11|n.575C>T||||||,T|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000452649|nonsense_mediated_decay|6/6|n.*404C>T||||||,T|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000464335|retained_intron|6/9|n.467C>T||||||,T|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000483116|retained_intron|2/5|n.304C>T||||||,T|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron|2/6|n.211C>T||||||,T|non_coding_exon_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|2/5|n.70C>T|||||| 22 30805497 . A G . . ANN=G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|6/12|c.580+22A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|4/12|c.580+22A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|5/12|c.580+22A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|8/12|c.580+22A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|7/12|c.580+22A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|9/12|c.580+22A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|6/11|c.580+22A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|4/11|c.580+22A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|5/11|c.580+22A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|8/11|c.580+22A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|7/11|c.580+22A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|9/11|c.580+22A>G||||||,G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000416523|processed_transcript||n.*552A>G|||||372|,G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000437022|nonsense_mediated_decay||n.*354A>G|||||259|,G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000452649|nonsense_mediated_decay||n.*261A>G|||||31|,G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000459728|processed_transcript||n.*707A>G|||||226|,G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000429917|protein_coding||c.*565A>G|||||1966|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000415072|protein_coding||c.*485A>G|||||2031|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding|7/11|c.580+22A>G||||||,G|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding|2/8|c.82+22A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding|1/4|c.-126+12153T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000428195|protein_coding|6/7|c.418+22A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding|5/9|c.358+22A>G||||||,G|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron|7/10|n.593+22A>G||||||,G|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000405717|protein_coding|7/10|c.580+22A>G||||||,G|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding|5/9|c.331+22A>G||||||,G|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000464335|retained_intron|6/8|n.485+22A>G||||||,G|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000483116|retained_intron|2/4|n.322+22A>G||||||,G|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron|2/5|n.229+22A>G||||||,G|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|2/4|n.88+22A>G||||||,G|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding|2/3|c.79+22A>G||||||WARNING_TRANSCRIPT_NO_START_CODON 22 30811825 . C T . . ANN=T|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding|9/12|c.742C>T|p.Pro248Ser|1002/4381|742/1212|248/403||,T|missense_variant|MODERATE|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding|4/9|c.244C>T|p.Pro82Ser|244/1470|244/1017|82/338||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000428195|protein_coding|8/8|c.580C>T|p.Pro194Ser|842/871|580/609|194/202||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding|7/10|c.520C>T|p.Pro174Ser|731/2631|520/990|174/329||,T|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000405717|protein_coding|9/11|c.742C>T|p.Pro248Ser|822/1733|742/1179|248/392||,T|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding|7/10|c.493C>T|p.Pro165Ser|565/1229|493/963|165/320||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|6/12|c.742C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|4/12|c.742C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|5/12|c.742C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|8/12|c.742C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|7/12|c.742C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|9/12|c.742C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|6/11|c.742C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|4/11|c.742C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|5/11|c.742C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|8/11|c.742C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|7/11|c.742C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|9/11|c.742C>T||||||,T|upstream_gene_variant|MODIFIER|RP4-539M6.20|ENSG00000273350|transcript|ENST00000608677|sense_intronic||n.-1C>T|||||4676|,T|downstream_gene_variant|MODIFIER|KIAA1658|ENSG00000268538|transcript|ENST00000598426|protein_coding||c.*258G>A|||||2387|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding|1/4|c.-126+5825G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000464335|retained_intron|7/8|n.570-112C>T||||||,T|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron|3/5|n.314-112C>T||||||,T|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|3/4|n.173-398C>T||||||,T|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding|3/3|c.163+5157C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron|9/11|n.755C>T||||||,T|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000483116|retained_intron|4/5|n.484C>T|||||| 22 30811904 . C A . . ANN=A|upstream_gene_variant|MODIFIER|RP4-539M6.20|ENSG00000273350|transcript|ENST00000608677|sense_intronic||n.-1C>A|||||4597|,A|downstream_gene_variant|MODIFIER|KIAA1658|ENSG00000268538|transcript|ENST00000598426|protein_coding||c.*258G>T|||||2308|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000428195|protein_coding||c.*871C>A|||||50|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding|9/11|c.772-33C>A||||||,A|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding|4/8|c.274-33C>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding|1/4|c.-126+5746G>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding|7/9|c.550-33C>A||||||,A|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000405717|protein_coding|9/10|c.772-33C>A||||||,A|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding|7/9|c.523-33C>A||||||,A|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000464335|retained_intron|7/8|n.570-33C>A||||||,A|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000483116|retained_intron|4/4|n.514-33C>A||||||,A|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron|3/5|n.314-33C>A||||||,A|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|3/4|n.173-319C>A||||||,A|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding|3/3|c.163+5236C>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron|9/11|n.834C>A|||||| 22 30812022 . G A . . ANN=A|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding|10/12|c.857G>A|p.Arg286His|1117/4381|857/1212|286/403||,A|missense_variant|MODERATE|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding|5/9|c.359G>A|p.Arg120His|359/1470|359/1017|120/338||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding|8/10|c.635G>A|p.Arg212His|846/2631|635/990|212/329||,A|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000405717|protein_coding|10/11|c.857G>A|p.Arg286His|937/1733|857/1179|286/392||,A|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding|8/10|c.608G>A|p.Arg203His|680/1229|608/963|203/320||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:GOLD|ENST00000312932|protein_coding|10/12|c.857G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:GOLD|ENST00000312932|protein_coding|12/12|c.857G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:GOLD|ENST00000312932|protein_coding|11/12|c.857G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:GOLD|ENST00000402592|protein_coding|8/10|c.608G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:GOLD|ENST00000402592|protein_coding|10/10|c.608G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:GOLD|ENST00000402592|protein_coding|9/10|c.608G>A||||||,A|upstream_gene_variant|MODIFIER|RP4-539M6.20|ENSG00000273350|transcript|ENST00000608677|sense_intronic||n.-1G>A|||||4479|,A|downstream_gene_variant|MODIFIER|KIAA1658|ENSG00000268538|transcript|ENST00000598426|protein_coding||c.*258C>T|||||2190|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000428195|protein_coding||c.*871G>A|||||168|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000483116|retained_intron||n.*573G>A|||||26|,A|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding|1/4|c.-126+5628C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|3/4|n.173-201G>A||||||,A|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding|3/3|c.163+5354G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron|9/11|n.952G>A||||||,A|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000464335|retained_intron|8/9|n.655G>A||||||,A|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron|4/6|n.399G>A|||||| 22 30812247 . G A . . ANN=A|synonymous_variant|LOW|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding|11/12|c.936G>A|p.Ala312Ala|1196/4381|936/1212|312/403||,A|synonymous_variant|LOW|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding|6/9|c.438G>A|p.Ala146Ala|438/1470|438/1017|146/338||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding|9/10|c.714G>A|p.Ala238Ala|925/2631|714/990|238/329||,A|synonymous_variant|LOW|SEC14L2|ENSG00000100003|transcript|ENST00000405717|protein_coding|11/11|c.936G>A|p.Ala312Ala|1016/1733|936/1179|312/392||,A|synonymous_variant|LOW|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding|9/10|c.687G>A|p.Ala229Ala|759/1229|687/963|229/320||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:GOLD|ENST00000312932|protein_coding|10/12|c.936G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:GOLD|ENST00000312932|protein_coding|12/12|c.936G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:GOLD|ENST00000312932|protein_coding|11/12|c.936G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|beta_strand|ENST00000312932|protein_coding|10/12|c.936G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|beta_strand|ENST00000312932|protein_coding|11/12|c.936G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|beta_strand|ENST00000405717|protein_coding|10/11|c.936G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|beta_strand|ENST00000405717|protein_coding|11/11|c.936G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:GOLD|ENST00000402592|protein_coding|8/10|c.687G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:GOLD|ENST00000402592|protein_coding|10/10|c.687G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:GOLD|ENST00000402592|protein_coding|9/10|c.687G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|beta_strand|ENST00000402592|protein_coding|8/10|c.687G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|beta_strand|ENST00000402592|protein_coding|9/10|c.687G>A||||||,A|upstream_gene_variant|MODIFIER|RP4-539M6.20|ENSG00000273350|transcript|ENST00000608677|sense_intronic||n.-1G>A|||||4254|,A|upstream_gene_variant|MODIFIER|RNU6-564P|ENSG00000222915|transcript|ENST00000410983|snRNA||n.-1G>A|||||4787|,A|downstream_gene_variant|MODIFIER|KIAA1658|ENSG00000268538|transcript|ENST00000598426|protein_coding||c.*258C>T|||||1965|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|RP4-539M6.21|ENSG00000272689|transcript|ENST00000608952|sense_intronic||n.*331C>T|||||4948|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000428195|protein_coding||c.*871G>A|||||393|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000483116|retained_intron||n.*573G>A|||||251|,A|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding|1/4|c.-126+5403C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding|3/3|c.163+5579G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron|10/11|n.1031G>A||||||,A|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000464335|retained_intron|9/9|n.734G>A||||||,A|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron|5/6|n.478G>A||||||,A|non_coding_exon_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|4/5|n.197G>A|||||| 22 30812379 . T C . . ANN=C|synonymous_variant|LOW|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding|11/12|c.1068T>C|p.Ser356Ser|1328/4381|1068/1212|356/403||,C|synonymous_variant|LOW|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding|6/9|c.570T>C|p.Ser190Ser|570/1470|570/1017|190/338||WARNING_TRANSCRIPT_NO_START_CODON,C|synonymous_variant|LOW|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding|9/10|c.846T>C|p.Ser282Ser|1057/2631|846/990|282/329||,C|synonymous_variant|LOW|SEC14L2|ENSG00000100003|transcript|ENST00000405717|protein_coding|11/11|c.1068T>C|p.Ser356Ser|1148/1733|1068/1179|356/392||,C|synonymous_variant|LOW|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding|9/10|c.819T>C|p.Ser273Ser|891/1229|819/963|273/320||,C|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:GOLD|ENST00000312932|protein_coding|10/12|c.1068T>C||||||,C|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:GOLD|ENST00000312932|protein_coding|12/12|c.1068T>C||||||,C|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:GOLD|ENST00000312932|protein_coding|11/12|c.1068T>C||||||,C|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:GOLD|ENST00000402592|protein_coding|8/10|c.819T>C||||||,C|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:GOLD|ENST00000402592|protein_coding|10/10|c.819T>C||||||,C|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:GOLD|ENST00000402592|protein_coding|9/10|c.819T>C||||||,C|3_prime_UTR_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|4/5|n.*107T>C|||||107|,C|upstream_gene_variant|MODIFIER|RP4-539M6.20|ENSG00000273350|transcript|ENST00000608677|sense_intronic||n.-1T>C|||||4122|,C|upstream_gene_variant|MODIFIER|RNU6-564P|ENSG00000222915|transcript|ENST00000410983|snRNA||n.-1T>C|||||4655|,C|downstream_gene_variant|MODIFIER|KIAA1658|ENSG00000268538|transcript|ENST00000598426|protein_coding||c.*258A>G|||||1833|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|RP4-539M6.21|ENSG00000272689|transcript|ENST00000608952|sense_intronic||n.*331A>G|||||4816|,C|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000428195|protein_coding||c.*871T>C|||||525|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000483116|retained_intron||n.*573T>C|||||383|,C|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding|1/4|c.-126+5271A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding|3/3|c.163+5711T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,C|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron|10/11|n.1163T>C||||||,C|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000464335|retained_intron|9/9|n.866T>C||||||,C|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron|5/6|n.610T>C||||||,C|non_coding_exon_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|4/5|n.*107T>C|||||| 22 30812387 . G A . . ANN=A|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding|11/12|c.1076G>A|p.Gly359Asp|1336/4381|1076/1212|359/403||,A|missense_variant|MODERATE|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding|6/9|c.578G>A|p.Gly193Asp|578/1470|578/1017|193/338||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding|9/10|c.854G>A|p.Gly285Asp|1065/2631|854/990|285/329||,A|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000405717|protein_coding|11/11|c.1076G>A|p.Gly359Asp|1156/1733|1076/1179|359/392||,A|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding|9/10|c.827G>A|p.Gly276Asp|899/1229|827/963|276/320||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:GOLD|ENST00000312932|protein_coding|10/12|c.1076G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:GOLD|ENST00000312932|protein_coding|12/12|c.1076G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:GOLD|ENST00000312932|protein_coding|11/12|c.1076G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|beta_strand|ENST00000312932|protein_coding|12/12|c.1076G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|beta_strand|ENST00000312932|protein_coding|11/12|c.1076G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:GOLD|ENST00000402592|protein_coding|8/10|c.827G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:GOLD|ENST00000402592|protein_coding|10/10|c.827G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:GOLD|ENST00000402592|protein_coding|9/10|c.827G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|beta_strand|ENST00000402592|protein_coding|10/10|c.827G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|beta_strand|ENST00000402592|protein_coding|9/10|c.827G>A||||||,A|3_prime_UTR_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|4/5|n.*115G>A|||||115|,A|upstream_gene_variant|MODIFIER|RP4-539M6.20|ENSG00000273350|transcript|ENST00000608677|sense_intronic||n.-1G>A|||||4114|,A|upstream_gene_variant|MODIFIER|RNU6-564P|ENSG00000222915|transcript|ENST00000410983|snRNA||n.-1G>A|||||4647|,A|downstream_gene_variant|MODIFIER|KIAA1658|ENSG00000268538|transcript|ENST00000598426|protein_coding||c.*258C>T|||||1825|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|RP4-539M6.21|ENSG00000272689|transcript|ENST00000608952|sense_intronic||n.*331C>T|||||4808|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000428195|protein_coding||c.*871G>A|||||533|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000483116|retained_intron||n.*573G>A|||||391|,A|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding|1/4|c.-126+5263C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding|3/3|c.163+5719G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron|10/11|n.1171G>A||||||,A|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000464335|retained_intron|9/9|n.874G>A||||||,A|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron|5/6|n.618G>A||||||,A|non_coding_exon_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|4/5|n.*115G>A|||||| 22 30821951 . G A . . ANN=A|upstream_gene_variant|MODIFIER|RP4-539M6.21|ENSG00000272689|transcript|ENST00000608952|sense_intronic||n.-1C>T|||||4426|,A|upstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding||c.-237C>T|||||4191|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding||c.*1472G>A|||||646|,A|downstream_gene_variant|MODIFIER|RNU6-564P|ENSG00000222915|transcript|ENST00000410983|snRNA||n.*104G>A|||||4814|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding||c.*1201G>A|||||2125|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron||n.*2739G>A|||||2123|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding||c.*1035G>A|||||3361|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron||n.*2184G>A|||||2125|,A|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding|6/8|c.584-754G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000266263|protein_coding|1/3|c.67+17G>A||||||,A|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|4/4|n.*121-2498G>A||||||,A|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding|3/3|c.164-2498G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000489658|retained_intron|1/1|n.172+17G>A||||||,A|intron_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000355143|protein_coding|1/2|c.67+17G>A||||||,A|intron_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000412752|nonsense_mediated_decay|1/3|n.67+17G>A||||||,A|intron_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000407550|protein_coding|1/3|c.67+17G>A|||||| 22 30822680 . A G . . ANN=G|upstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding||c.-237T>C|||||4920|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding||c.*1472A>G|||||1375|,G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding||c.*1201A>G|||||2854|,G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron||n.*2739A>G|||||2852|,G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding||c.*1035A>G|||||4090|,G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron||n.*2184A>G|||||2854|,G|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding|6/8|c.584-25A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000266263|protein_coding|1/3|c.68-25A>G||||||,G|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|4/4|n.*121-1769A>G||||||,G|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding|3/3|c.164-1769A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000489658|retained_intron|1/1|n.173-25A>G||||||,G|intron_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000355143|protein_coding|1/2|c.68-25A>G||||||,G|intron_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000412752|nonsense_mediated_decay|1/3|n.68-25A>G||||||,G|intron_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000407550|protein_coding|1/3|c.68-25A>G|||||| 22 30822813 . A G . . ANN=G|missense_variant|MODERATE|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding|7/9|c.692A>G|p.Lys231Arg|692/1470|692/1017|231/338||WARNING_TRANSCRIPT_NO_START_CODON,G|missense_variant|MODERATE|MTFP1|ENSG00000242114|transcript|ENST00000266263|protein_coding|2/4|c.176A>G|p.Lys59Arg|526/1375|176/501|59/166||,G|missense_variant|MODERATE|MTFP1|ENSG00000242114|transcript|ENST00000355143|protein_coding|2/3|c.176A>G|p.Lys59Arg|280/891|176/408|59/135||,G|missense_variant|MODERATE|MTFP1|ENSG00000242114|transcript|ENST00000407550|protein_coding|2/4|c.176A>G|p.Lys59Arg|239/912|176/432|59/143||,G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding||c.*1472A>G|||||1508|,G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding||c.*1201A>G|||||2987|,G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron||n.*2739A>G|||||2985|,G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding||c.*1035A>G|||||4223|,G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron||n.*2184A>G|||||2987|,G|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|4/4|n.*121-1636A>G||||||,G|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding|3/3|c.164-1636A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,G|non_coding_exon_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000489658|retained_intron|2/2|n.281A>G||||||,G|non_coding_exon_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000412752|nonsense_mediated_decay|2/4|n.176A>G|||||| 22 30822855 . A AC . . ANN=C|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding||c.*1472_*1472insC|||||1551|,C|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding||c.*1201_*1201insC|||||3030|,C|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron||n.*2739_*2739insC|||||3028|,C|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding||c.*1035_*1035insC|||||4266|,C|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron||n.*2184_*2184insC|||||3030|,C|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding|7/8|c.711+28dupC||||||WARNING_TRANSCRIPT_NO_START_CODON&INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000266263|protein_coding|2/3|c.195+28dupC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|4/4|n.*121-1589dupC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding|3/3|c.164-1589dupC||||||WARNING_TRANSCRIPT_NO_START_CODON&INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000355143|protein_coding|2/2|c.195+28dupC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000412752|nonsense_mediated_decay|2/3|n.195+28dupC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000407550|protein_coding|2/3|c.195+28dupC||||||INFO_REALIGN_3_PRIME,C|non_coding_exon_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000489658|retained_intron|2/2|n.328dupC||||||INFO_REALIGN_3_PRIME 22 30822873 . CT C . . ANN=|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding||c.*1472delT|||||1569|,|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding||c.*1201delT|||||3048|,|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron||n.*2739delT|||||3046|,|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding||c.*1035delT|||||4284|,|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron||n.*2184delT|||||3048|,|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding|7/8|c.711+43delT||||||WARNING_TRANSCRIPT_NO_START_CODON&INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000266263|protein_coding|2/3|c.195+43delT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|4/4|n.*121-1574delT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding|3/3|c.164-1574delT||||||WARNING_TRANSCRIPT_NO_START_CODON&INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000355143|protein_coding|2/2|c.195+43delT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000412752|nonsense_mediated_decay|2/3|n.195+43delT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000407550|protein_coding|2/3|c.195+43delT||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000489658|retained_intron|2/2|n.343delT||||||INFO_REALIGN_3_PRIME 22 30823113 . T G . . ANN=G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding||c.*1472T>G|||||1808|,G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding||c.*1201T>G|||||3287|,G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron||n.*2739T>G|||||3285|,G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding||c.*1035T>G|||||4523|,G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron||n.*2184T>G|||||3287|,G|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding|7/8|c.712-45T>G||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000266263|protein_coding|2/3|c.196-45T>G||||||,G|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|4/4|n.*121-1336T>G||||||,G|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding|3/3|c.164-1336T>G||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000355143|protein_coding|2/2|c.195+281T>G||||||,G|intron_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000407550|protein_coding|2/3|c.196-114T>G||||||,G|non_coding_exon_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000489658|retained_intron|2/2|n.581T>G||||||,G|non_coding_exon_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000412752|nonsense_mediated_decay|3/4|n.200T>G|||||| 22 30823133 . G A . . ANN=A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding||c.*1472G>A|||||1828|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding||c.*1201G>A|||||3307|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron||n.*2739G>A|||||3305|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding||c.*1035G>A|||||4543|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron||n.*2184G>A|||||3307|,A|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding|7/8|c.712-25G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000266263|protein_coding|2/3|c.196-25G>A||||||,A|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|4/4|n.*121-1316G>A||||||,A|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding|3/3|c.164-1316G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000355143|protein_coding|2/2|c.195+301G>A||||||,A|intron_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000407550|protein_coding|2/3|c.196-94G>A||||||,A|non_coding_exon_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000489658|retained_intron|2/2|n.601G>A||||||,A|non_coding_exon_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000412752|nonsense_mediated_decay|3/4|n.220G>A|||||| 22 30823145 . C G . . ANN=G|3_prime_UTR_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000412752|nonsense_mediated_decay|3/4|n.*7C>G|||||7|,G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding||c.*1472C>G|||||1840|,G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding||c.*1201C>G|||||3319|,G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron||n.*2739C>G|||||3317|,G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding||c.*1035C>G|||||4555|,G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron||n.*2184C>G|||||3319|,G|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding|7/8|c.712-13C>G||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000266263|protein_coding|2/3|c.196-13C>G||||||,G|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|4/4|n.*121-1304C>G||||||,G|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding|3/3|c.164-1304C>G||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000355143|protein_coding|2/2|c.195+313C>G||||||,G|intron_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000407550|protein_coding|2/3|c.196-82C>G||||||,G|non_coding_exon_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000489658|retained_intron|2/2|n.613C>G||||||,G|non_coding_exon_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000412752|nonsense_mediated_decay|3/4|n.*7C>G|||||| 22 30823148 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000412752|nonsense_mediated_decay|3/4|n.*10C>T|||||10|,T|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding||c.*1472C>T|||||1843|,T|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding||c.*1201C>T|||||3322|,T|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron||n.*2739C>T|||||3320|,T|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding||c.*1035C>T|||||4558|,T|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron||n.*2184C>T|||||3322|,T|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding|7/8|c.712-10C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000266263|protein_coding|2/3|c.196-10C>T||||||,T|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|4/4|n.*121-1301C>T||||||,T|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding|3/3|c.164-1301C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000355143|protein_coding|2/2|c.195+316C>T||||||,T|intron_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000407550|protein_coding|2/3|c.196-79C>T||||||,T|non_coding_exon_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000489658|retained_intron|2/2|n.616C>T||||||,T|non_coding_exon_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000412752|nonsense_mediated_decay|3/4|n.*10C>T|||||| 22 30823196 . T C . . ANN=C|synonymous_variant|LOW|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding|8/9|c.750T>C|p.Thr250Thr|750/1470|750/1017|250/338||WARNING_TRANSCRIPT_NO_START_CODON,C|synonymous_variant|LOW|MTFP1|ENSG00000242114|transcript|ENST00000266263|protein_coding|3/4|c.234T>C|p.Thr78Thr|584/1375|234/501|78/166||,C|3_prime_UTR_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000412752|nonsense_mediated_decay|3/4|n.*58T>C|||||58|,C|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding||c.*1472T>C|||||1891|,C|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding||c.*1201T>C|||||3370|,C|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron||n.*2739T>C|||||3368|,C|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding||c.*1035T>C|||||4606|,C|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron||n.*2184T>C|||||3370|,C|downstream_gene_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000489658|retained_intron||n.*647T>C|||||17|,C|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|4/4|n.*121-1253T>C||||||,C|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding|3/3|c.164-1253T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000355143|protein_coding|2/2|c.195+364T>C||||||,C|intron_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000407550|protein_coding|2/3|c.196-31T>C||||||,C|non_coding_exon_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000412752|nonsense_mediated_decay|3/4|n.*58T>C|||||| 22 30823218 . G T . . ANN=T|missense_variant|MODERATE|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding|8/9|c.772G>T|p.Val258Leu|772/1470|772/1017|258/338||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|MTFP1|ENSG00000242114|transcript|ENST00000266263|protein_coding|3/4|c.256G>T|p.Val86Leu|606/1375|256/501|86/166||,T|sequence_feature|LOW|MTFP1|ENSG00000242114|transmembrane_region:Transmembrane_region|ENST00000266263|protein_coding|3/4|c.256G>T||||||,T|3_prime_UTR_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000412752|nonsense_mediated_decay|3/4|n.*80G>T|||||80|,T|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding||c.*1472G>T|||||1913|,T|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding||c.*1201G>T|||||3392|,T|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron||n.*2739G>T|||||3390|,T|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding||c.*1035G>T|||||4628|,T|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron||n.*2184G>T|||||3392|,T|downstream_gene_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000489658|retained_intron||n.*647G>T|||||39|,T|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|4/4|n.*121-1231G>T||||||,T|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding|3/3|c.164-1231G>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000355143|protein_coding|2/2|c.195+386G>T||||||,T|intron_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000407550|protein_coding|2/3|c.196-9G>T||||||,T|non_coding_exon_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000412752|nonsense_mediated_decay|3/4|n.*80G>T|||||| 22 30823230 . C G . . ANN=G|missense_variant|MODERATE|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding|8/9|c.784C>G|p.Leu262Val|784/1470|784/1017|262/338||WARNING_TRANSCRIPT_NO_START_CODON,G|missense_variant|MODERATE|MTFP1|ENSG00000242114|transcript|ENST00000266263|protein_coding|3/4|c.268C>G|p.Leu90Val|618/1375|268/501|90/166||,G|missense_variant|MODERATE|MTFP1|ENSG00000242114|transcript|ENST00000407550|protein_coding|3/4|c.199C>G|p.Leu67Val|262/912|199/432|67/143||,G|sequence_feature|LOW|MTFP1|ENSG00000242114|transmembrane_region:Transmembrane_region|ENST00000266263|protein_coding|3/4|c.268C>G||||||,G|3_prime_UTR_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000412752|nonsense_mediated_decay|3/4|n.*92C>G|||||92|,G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding||c.*1472C>G|||||1925|,G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding||c.*1201C>G|||||3404|,G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron||n.*2739C>G|||||3402|,G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding||c.*1035C>G|||||4640|,G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron||n.*2184C>G|||||3404|,G|downstream_gene_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000489658|retained_intron||n.*647C>G|||||51|,G|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|4/4|n.*121-1219C>G||||||,G|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding|3/3|c.164-1219C>G||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000355143|protein_coding|2/2|c.195+398C>G||||||,G|non_coding_exon_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000412752|nonsense_mediated_decay|3/4|n.*92C>G|||||| 22 30823250 . G A . . ANN=A|synonymous_variant|LOW|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding|8/9|c.804G>A|p.Pro268Pro|804/1470|804/1017|268/338||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|MTFP1|ENSG00000242114|transcript|ENST00000266263|protein_coding|3/4|c.288G>A|p.Pro96Pro|638/1375|288/501|96/166||,A|synonymous_variant|LOW|MTFP1|ENSG00000242114|transcript|ENST00000407550|protein_coding|3/4|c.219G>A|p.Pro73Pro|282/912|219/432|73/143||,A|sequence_feature|LOW|MTFP1|ENSG00000242114|transmembrane_region:Transmembrane_region|ENST00000266263|protein_coding|3/4|c.288G>A||||||,A|3_prime_UTR_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000412752|nonsense_mediated_decay|3/4|n.*112G>A|||||112|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding||c.*1472G>A|||||1945|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding||c.*1201G>A|||||3424|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron||n.*2739G>A|||||3422|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding||c.*1035G>A|||||4660|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron||n.*2184G>A|||||3424|,A|downstream_gene_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000489658|retained_intron||n.*647G>A|||||71|,A|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|4/4|n.*121-1199G>A||||||,A|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding|3/3|c.164-1199G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000355143|protein_coding|2/2|c.195+418G>A||||||,A|non_coding_exon_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000412752|nonsense_mediated_decay|3/4|n.*112G>A|||||| 22 30823323 . G A . . ANN=A|missense_variant|MODERATE|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding|8/9|c.877G>A|p.Val293Ile|877/1470|877/1017|293/338||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|MTFP1|ENSG00000242114|transcript|ENST00000266263|protein_coding|3/4|c.361G>A|p.Val121Ile|711/1375|361/501|121/166||,A|missense_variant|MODERATE|MTFP1|ENSG00000242114|transcript|ENST00000407550|protein_coding|3/4|c.292G>A|p.Val98Ile|355/912|292/432|98/143||,A|3_prime_UTR_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000412752|nonsense_mediated_decay|3/4|n.*185G>A|||||185|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding||c.*1472G>A|||||2018|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding||c.*1201G>A|||||3497|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron||n.*2739G>A|||||3495|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding||c.*1035G>A|||||4733|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron||n.*2184G>A|||||3497|,A|downstream_gene_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000489658|retained_intron||n.*647G>A|||||144|,A|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|4/4|n.*121-1126G>A||||||,A|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding|3/3|c.164-1126G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000355143|protein_coding|2/2|c.195+491G>A||||||,A|non_coding_exon_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000412752|nonsense_mediated_decay|3/4|n.*185G>A|||||| 22 30823346 . G A . . ANN=A|synonymous_variant|LOW|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding|8/9|c.900G>A|p.Ala300Ala|900/1470|900/1017|300/338||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|MTFP1|ENSG00000242114|transcript|ENST00000266263|protein_coding|3/4|c.384G>A|p.Ala128Ala|734/1375|384/501|128/166||,A|synonymous_variant|LOW|MTFP1|ENSG00000242114|transcript|ENST00000407550|protein_coding|3/4|c.315G>A|p.Ala105Ala|378/912|315/432|105/143||,A|3_prime_UTR_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000412752|nonsense_mediated_decay|3/4|n.*208G>A|||||208|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding||c.*1472G>A|||||2041|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding||c.*1201G>A|||||3520|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron||n.*2739G>A|||||3518|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding||c.*1035G>A|||||4756|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron||n.*2184G>A|||||3520|,A|downstream_gene_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000489658|retained_intron||n.*647G>A|||||167|,A|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|4/4|n.*121-1103G>A||||||,A|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding|3/3|c.164-1103G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000355143|protein_coding|2/2|c.195+514G>A||||||,A|non_coding_exon_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000412752|nonsense_mediated_decay|3/4|n.*208G>A|||||| 22 30823365 . C A . . ANN=A|missense_variant|MODERATE|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding|8/9|c.919C>A|p.Pro307Thr|919/1470|919/1017|307/338||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|MTFP1|ENSG00000242114|transcript|ENST00000266263|protein_coding|3/4|c.403C>A|p.Pro135Thr|753/1375|403/501|135/166||,A|missense_variant|MODERATE|MTFP1|ENSG00000242114|transcript|ENST00000407550|protein_coding|3/4|c.334C>A|p.Pro112Thr|397/912|334/432|112/143||,A|sequence_feature|LOW|MTFP1|ENSG00000242114|transmembrane_region:Transmembrane_region|ENST00000266263|protein_coding|4/4|c.403C>A||||||,A|sequence_feature|LOW|MTFP1|ENSG00000242114|transmembrane_region:Transmembrane_region|ENST00000266263|protein_coding|3/4|c.403C>A||||||,A|3_prime_UTR_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000412752|nonsense_mediated_decay|3/4|n.*227C>A|||||227|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding||c.*1472C>A|||||2060|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding||c.*1201C>A|||||3539|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron||n.*2739C>A|||||3537|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding||c.*1035C>A|||||4775|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron||n.*2184C>A|||||3539|,A|downstream_gene_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000489658|retained_intron||n.*647C>A|||||186|,A|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|4/4|n.*121-1084C>A||||||,A|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding|3/3|c.164-1084C>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000355143|protein_coding|2/2|c.195+533C>A||||||,A|non_coding_exon_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000412752|nonsense_mediated_decay|3/4|n.*227C>A|||||| 22 30823379 . C T . . ANN=T|synonymous_variant|LOW|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding|8/9|c.933C>T|p.His311His|933/1470|933/1017|311/338||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|MTFP1|ENSG00000242114|transcript|ENST00000266263|protein_coding|3/4|c.417C>T|p.His139His|767/1375|417/501|139/166||,T|synonymous_variant|LOW|MTFP1|ENSG00000242114|transcript|ENST00000407550|protein_coding|3/4|c.348C>T|p.His116His|411/912|348/432|116/143||,T|sequence_feature|LOW|MTFP1|ENSG00000242114|transmembrane_region:Transmembrane_region|ENST00000266263|protein_coding|4/4|c.417C>T||||||,T|sequence_feature|LOW|MTFP1|ENSG00000242114|transmembrane_region:Transmembrane_region|ENST00000266263|protein_coding|3/4|c.417C>T||||||,T|3_prime_UTR_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000412752|nonsense_mediated_decay|3/4|n.*241C>T|||||241|,T|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding||c.*1472C>T|||||2074|,T|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding||c.*1201C>T|||||3553|,T|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron||n.*2739C>T|||||3551|,T|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding||c.*1035C>T|||||4789|,T|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron||n.*2184C>T|||||3553|,T|downstream_gene_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000489658|retained_intron||n.*647C>T|||||200|,T|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|4/4|n.*121-1070C>T||||||,T|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding|3/3|c.164-1070C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000355143|protein_coding|2/2|c.195+547C>T||||||,T|non_coding_exon_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000412752|nonsense_mediated_decay|3/4|n.*241C>T|||||| 22 30824403 . A G . . ANN=G|sequence_feature|LOW|MTFP1|ENSG00000242114|transmembrane_region:Transmembrane_region|ENST00000266263|protein_coding|4/4|c.429-46A>G||||||,G|sequence_feature|LOW|MTFP1|ENSG00000242114|transmembrane_region:Transmembrane_region|ENST00000266263|protein_coding|3/4|c.429-46A>G||||||,G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding||c.*1472A>G|||||3098|,G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding||c.*1201A>G|||||4577|,G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron||n.*2739A>G|||||4575|,G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron||n.*2184A>G|||||4577|,G|downstream_gene_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000489658|retained_intron||n.*647A>G|||||1224|,G|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding|8/8|c.945-46A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000266263|protein_coding|3/3|c.429-46A>G||||||,G|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|4/4|n.*121-46A>G||||||,G|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding|3/3|c.164-46A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000355143|protein_coding|2/2|c.196-46A>G||||||,G|intron_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000412752|nonsense_mediated_decay|3/3|n.*253-46A>G||||||,G|intron_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000407550|protein_coding|3/3|c.360-46A>G|||||| 22 30824488 . C T . . ANN=T|missense_variant|MODERATE|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding|4/4|c.203C>T|p.Ser68Phe|205/694|203/432|68/143||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding|9/9|c.984C>T|p.Leu328Leu|984/1470|984/1017|328/338||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|MTFP1|ENSG00000242114|transcript|ENST00000266263|protein_coding|4/4|c.468C>T|p.Leu156Leu|818/1375|468/501|156/166||,T|synonymous_variant|LOW|MTFP1|ENSG00000242114|transcript|ENST00000355143|protein_coding|3/3|c.235C>T|p.Leu79Leu|339/891|235/408|79/135||,T|synonymous_variant|LOW|MTFP1|ENSG00000242114|transcript|ENST00000407550|protein_coding|4/4|c.399C>T|p.Leu133Leu|462/912|399/432|133/143||,T|3_prime_UTR_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|5/5|n.*160C>T|||||12216|,T|3_prime_UTR_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000412752|nonsense_mediated_decay|4/4|n.*292C>T|||||1350|,T|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding||c.*1472C>T|||||3183|,T|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding||c.*1201C>T|||||4662|,T|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron||n.*2739C>T|||||4660|,T|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron||n.*2184C>T|||||4662|,T|downstream_gene_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000489658|retained_intron||n.*647C>T|||||1309|,T|non_coding_exon_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|5/5|n.*160C>T||||||,T|non_coding_exon_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000412752|nonsense_mediated_decay|4/4|n.*292C>T|||||| 22 30824621 . A T . . ANN=T|missense_variant|MODERATE|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding|4/4|c.336A>T|p.Arg112Ser|338/694|336/432|112/143||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|MTFP1|ENSG00000242114|transcript|ENST00000355143|protein_coding|3/3|c.368A>T|p.Asp123Val|472/891|368/408|123/135||,T|3_prime_UTR_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding|9/9|c.*100A>T|||||100|WARNING_TRANSCRIPT_NO_START_CODON,T|3_prime_UTR_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000266263|protein_coding|4/4|c.*100A>T|||||100|,T|3_prime_UTR_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|5/5|n.*293A>T|||||12349|,T|3_prime_UTR_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000412752|nonsense_mediated_decay|4/4|n.*425A>T|||||1483|,T|3_prime_UTR_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000407550|protein_coding|4/4|c.*100A>T|||||100|,T|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding||c.*1472A>T|||||3316|,T|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding||c.*1201A>T|||||4795|,T|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron||n.*2739A>T|||||4793|,T|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron||n.*2184A>T|||||4795|,T|downstream_gene_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000489658|retained_intron||n.*647A>T|||||1442|,T|non_coding_exon_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|5/5|n.*293A>T||||||,T|non_coding_exon_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000412752|nonsense_mediated_decay|4/4|n.*425A>T|||||| 22 30824659 . T TA . . ANN=A|frameshift_variant|HIGH|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding|4/4|c.375dupA|p.Glu126fs|378/694|376/432|126/143||WARNING_TRANSCRIPT_NO_START_CODON&INFO_REALIGN_3_PRIME,A|frameshift_variant|HIGH|MTFP1|ENSG00000242114|transcript|ENST00000355143|protein_coding|3/3|c.407dupA||512/891|408/408|136/135||INFO_REALIGN_3_PRIME,A|3_prime_UTR_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding|9/9|c.*139dupA|||||140|WARNING_TRANSCRIPT_NO_START_CODON&INFO_REALIGN_3_PRIME,A|3_prime_UTR_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000266263|protein_coding|4/4|c.*139dupA|||||140|INFO_REALIGN_3_PRIME,A|3_prime_UTR_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|5/5|n.*332dupA|||||12389|INFO_REALIGN_3_PRIME,A|3_prime_UTR_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000407550|protein_coding|4/4|c.*139dupA|||||140|INFO_REALIGN_3_PRIME,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding||c.*1472_*1472insA|||||3355|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding||c.*1201_*1201insA|||||4834|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron||n.*2739_*2739insA|||||4832|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron||n.*2184_*2184insA|||||4834|,A|downstream_gene_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000489658|retained_intron||n.*647_*647insA|||||1481|,A|downstream_gene_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000412752|nonsense_mediated_decay||n.*325_*325insA|||||30|,A|non_coding_exon_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|5/5|n.*332dupA||||||INFO_REALIGN_3_PRIME;LOF=(RP4-539M6.19|ENSG00000249590|3|0.33) 22 30824694 . G A . . ANN=A|missense_variant|MODERATE|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding|4/4|c.409G>A|p.Glu137Lys|411/694|409/432|137/143||WARNING_TRANSCRIPT_NO_START_CODON,A|3_prime_UTR_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding|9/9|c.*173G>A|||||173|WARNING_TRANSCRIPT_NO_START_CODON,A|3_prime_UTR_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000266263|protein_coding|4/4|c.*173G>A|||||173|,A|3_prime_UTR_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|5/5|n.*366G>A|||||12422|,A|3_prime_UTR_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000355143|protein_coding|3/3|c.*33G>A|||||33|,A|3_prime_UTR_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000407550|protein_coding|4/4|c.*173G>A|||||173|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding||c.*1472G>A|||||3389|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding||c.*1201G>A|||||4868|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron||n.*2739G>A|||||4866|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron||n.*2184G>A|||||4868|,A|downstream_gene_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000489658|retained_intron||n.*647G>A|||||1515|,A|downstream_gene_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000412752|nonsense_mediated_decay||n.*325G>A|||||64|,A|non_coding_exon_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|5/5|n.*366G>A|||||| 22 30824706 . G A . . ANN=A|missense_variant|MODERATE|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding|4/4|c.421G>A|p.Gly141Ser|423/694|421/432|141/143||WARNING_TRANSCRIPT_NO_START_CODON,A|3_prime_UTR_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding|9/9|c.*185G>A|||||185|WARNING_TRANSCRIPT_NO_START_CODON,A|3_prime_UTR_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000266263|protein_coding|4/4|c.*185G>A|||||185|,A|3_prime_UTR_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|5/5|n.*378G>A|||||12434|,A|3_prime_UTR_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000355143|protein_coding|3/3|c.*45G>A|||||45|,A|3_prime_UTR_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000407550|protein_coding|4/4|c.*185G>A|||||185|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding||c.*1472G>A|||||3401|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding||c.*1201G>A|||||4880|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron||n.*2739G>A|||||4878|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron||n.*2184G>A|||||4880|,A|downstream_gene_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000489658|retained_intron||n.*647G>A|||||1527|,A|downstream_gene_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000412752|nonsense_mediated_decay||n.*325G>A|||||76|,A|non_coding_exon_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|5/5|n.*378G>A|||||| 22 30855970 . C A . . ANN=A|3_prime_UTR_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|12/12|c.*38G>T|||||38|,A|3_prime_UTR_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding|12/12|c.*38G>T|||||38|,A|3_prime_UTR_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding|13/13|c.*38G>T|||||38|,A|3_prime_UTR_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|14/14|c.*38G>T|||||38|,A|3_prime_UTR_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|13/13|n.*1203G>T|||||11193|,A|3_prime_UTR_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding|13/13|c.*38G>T|||||38|,A|downstream_gene_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding||c.*693G>T|||||1687|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding|10/10|c.904+1327G>T||||||,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|12/12|c.904+1327G>T||||||,A|non_coding_exon_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|13/13|n.*1203G>T|||||| 22 30856115 . C T . . ANN=T|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|12/12|c.1096G>A|p.Asp366Asn|1187/2086|1096/1203|366/400||,T|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding|12/12|c.865G>A|p.Asp289Asn|1215/1837|865/972|289/323||,T|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding|13/13|c.919G>A|p.Asp307Asn|1172/1794|919/1026|307/341||,T|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|14/14|c.865G>A|p.Asp289Asn|1342/1964|865/972|289/323||,T|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding|13/13|c.919G>A|p.Asp307Asn|1242/1864|919/1026|307/341||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000215812|protein_coding|11/12|c.1096G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000215812|protein_coding|10/12|c.1096G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000215812|protein_coding|12/12|c.1096G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000540910|protein_coding|11/12|c.865G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000540910|protein_coding|12/12|c.865G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000540910|protein_coding|10/12|c.865G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000401751|protein_coding|12/13|c.919G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000401751|protein_coding|13/13|c.919G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000401751|protein_coding|11/13|c.919G>A||||||,T|3_prime_UTR_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|13/13|n.*1058G>A|||||11048|,T|downstream_gene_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding||c.*693G>A|||||1542|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding|10/10|c.904+1182G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|12/12|c.904+1182G>A||||||,T|non_coding_exon_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|13/13|n.*1058G>A|||||| 22 30856121 . G A . . ANN=A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|12/12|c.1090C>T|p.Arg364Cys|1181/2086|1090/1203|364/400||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding|12/12|c.859C>T|p.Arg287Cys|1209/1837|859/972|287/323||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding|13/13|c.913C>T|p.Arg305Cys|1166/1794|913/1026|305/341||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|14/14|c.859C>T|p.Arg287Cys|1336/1964|859/972|287/323||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding|13/13|c.913C>T|p.Arg305Cys|1236/1864|913/1026|305/341||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000215812|protein_coding|11/12|c.1090C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000215812|protein_coding|10/12|c.1090C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000215812|protein_coding|12/12|c.1090C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000540910|protein_coding|11/12|c.859C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000540910|protein_coding|12/12|c.859C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000540910|protein_coding|10/12|c.859C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000401751|protein_coding|12/13|c.913C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000401751|protein_coding|13/13|c.913C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000401751|protein_coding|11/13|c.913C>T||||||,A|3_prime_UTR_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|13/13|n.*1052C>T|||||11042|,A|downstream_gene_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding||c.*693C>T|||||1536|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding|10/10|c.904+1176C>T||||||,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|12/12|c.904+1176C>T||||||,A|non_coding_exon_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|13/13|n.*1052C>T|||||| 22 30856151 . G A . . ANN=A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000215812|protein_coding|11/12|c.1082-22C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000215812|protein_coding|10/12|c.1082-22C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000215812|protein_coding|12/12|c.1082-22C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000540910|protein_coding|11/12|c.851-22C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000540910|protein_coding|12/12|c.851-22C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000540910|protein_coding|10/12|c.851-22C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000401751|protein_coding|12/13|c.905-22C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000401751|protein_coding|13/13|c.905-22C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000401751|protein_coding|11/13|c.905-22C>T||||||,A|downstream_gene_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding||c.*693C>T|||||1506|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|11/11|c.1082-22C>T||||||,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding|10/10|c.904+1146C>T||||||,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|12/12|c.904+1146C>T||||||,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding|11/11|c.851-22C>T||||||,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding|12/12|c.905-22C>T||||||,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|13/13|c.851-22C>T||||||,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|12/12|n.*1044-22C>T||||||,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding|12/12|c.905-22C>T|||||| 22 30857287 . G T . . ANN=T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000215812|protein_coding|11/12|c.1081+10C>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000215812|protein_coding|10/12|c.1081+10C>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000215812|protein_coding|12/12|c.1081+10C>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000540910|protein_coding|11/12|c.850+10C>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000540910|protein_coding|12/12|c.850+10C>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000540910|protein_coding|10/12|c.850+10C>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000401751|protein_coding|12/13|c.904+10C>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000401751|protein_coding|13/13|c.904+10C>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000401751|protein_coding|11/13|c.904+10C>A||||||,T|downstream_gene_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding||c.*693C>A|||||370|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|11/11|c.1081+10C>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding|10/10|c.904+10C>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|12/12|c.904+10C>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding|11/11|c.850+10C>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding|12/12|c.904+10C>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|13/13|c.850+10C>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|12/12|n.*1043+10C>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding|12/12|c.904+10C>A|||||| 22 30857329 . T A . . ANN=A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|11/12|c.1049A>T|p.Asp350Val|1140/2086|1049/1203|350/400||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding|10/11|c.872A>T|p.Asp291Val|998/2316|872/1062|291/353||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|12/13|c.872A>T|p.Asp291Val|1156/2474|872/1062|291/353||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding|11/12|c.818A>T|p.Asp273Val|1168/1837|818/972|273/323||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding|12/13|c.872A>T|p.Asp291Val|1125/1794|872/1026|291/341||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|13/14|c.818A>T|p.Asp273Val|1295/1964|818/972|273/323||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding|12/13|c.872A>T|p.Asp291Val|1195/1864|872/1026|291/341||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000215812|protein_coding|11/12|c.1049A>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000215812|protein_coding|10/12|c.1049A>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000215812|protein_coding|12/12|c.1049A>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000540910|protein_coding|11/12|c.818A>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000540910|protein_coding|12/12|c.818A>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000540910|protein_coding|10/12|c.818A>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000401751|protein_coding|12/13|c.872A>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000401751|protein_coding|13/13|c.872A>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000401751|protein_coding|11/13|c.872A>T||||||,A|3_prime_UTR_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|12/13|n.*1011A>T|||||9834|,A|downstream_gene_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding||c.*693A>T|||||328|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|12/13|n.*1011A>T|||||| 22 30857353 . T C . . ANN=C|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|11/12|c.1025A>G|p.Tyr342Cys|1116/2086|1025/1203|342/400||,C|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding|10/11|c.848A>G|p.Tyr283Cys|974/2316|848/1062|283/353||,C|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|12/13|c.848A>G|p.Tyr283Cys|1132/2474|848/1062|283/353||,C|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding|11/12|c.794A>G|p.Tyr265Cys|1144/1837|794/972|265/323||,C|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding|12/13|c.848A>G|p.Tyr283Cys|1101/1794|848/1026|283/341||,C|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|13/14|c.794A>G|p.Tyr265Cys|1271/1964|794/972|265/323||,C|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding|12/13|c.848A>G|p.Tyr283Cys|1171/1864|848/1026|283/341||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000215812|protein_coding|11/12|c.1025A>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000215812|protein_coding|10/12|c.1025A>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000215812|protein_coding|12/12|c.1025A>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000540910|protein_coding|11/12|c.794A>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000540910|protein_coding|12/12|c.794A>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000540910|protein_coding|10/12|c.794A>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000401751|protein_coding|12/13|c.848A>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000401751|protein_coding|13/13|c.848A>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000401751|protein_coding|11/13|c.848A>G||||||,C|3_prime_UTR_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|12/13|n.*987A>G|||||9810|,C|downstream_gene_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding||c.*693A>G|||||304|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|12/13|n.*987A>G|||||| 22 30857373 . A C . . ANN=C|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|11/12|c.1005T>G|p.Asp335Glu|1096/2086|1005/1203|335/400||,C|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding|10/11|c.828T>G|p.Asp276Glu|954/2316|828/1062|276/353||,C|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|12/13|c.828T>G|p.Asp276Glu|1112/2474|828/1062|276/353||,C|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding|11/12|c.774T>G|p.Asp258Glu|1124/1837|774/972|258/323||,C|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding|12/13|c.828T>G|p.Asp276Glu|1081/1794|828/1026|276/341||,C|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|13/14|c.774T>G|p.Asp258Glu|1251/1964|774/972|258/323||,C|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding|12/13|c.828T>G|p.Asp276Glu|1151/1864|828/1026|276/341||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000215812|protein_coding|11/12|c.1005T>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000215812|protein_coding|10/12|c.1005T>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000215812|protein_coding|12/12|c.1005T>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000540910|protein_coding|11/12|c.774T>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000540910|protein_coding|12/12|c.774T>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000540910|protein_coding|10/12|c.774T>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000401751|protein_coding|12/13|c.828T>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000401751|protein_coding|13/13|c.828T>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000401751|protein_coding|11/13|c.828T>G||||||,C|3_prime_UTR_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|12/13|n.*967T>G|||||9790|,C|downstream_gene_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding||c.*693T>G|||||284|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|12/13|n.*967T>G|||||| 22 30857438 . T C . . ANN=C|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|11/12|c.940A>G|p.Ile314Val|1031/2086|940/1203|314/400||,C|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding|10/11|c.763A>G|p.Ile255Val|889/2316|763/1062|255/353||,C|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|12/13|c.763A>G|p.Ile255Val|1047/2474|763/1062|255/353||,C|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding|11/12|c.709A>G|p.Ile237Val|1059/1837|709/972|237/323||,C|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding|12/13|c.763A>G|p.Ile255Val|1016/1794|763/1026|255/341||,C|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|13/14|c.709A>G|p.Ile237Val|1186/1964|709/972|237/323||,C|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding|12/13|c.763A>G|p.Ile255Val|1086/1864|763/1026|255/341||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000215812|protein_coding|11/12|c.940A>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000215812|protein_coding|10/12|c.940A>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000215812|protein_coding|12/12|c.940A>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000540910|protein_coding|11/12|c.709A>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000540910|protein_coding|12/12|c.709A>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000540910|protein_coding|10/12|c.709A>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000401751|protein_coding|12/13|c.763A>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000401751|protein_coding|13/13|c.763A>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000401751|protein_coding|11/13|c.763A>G||||||,C|3_prime_UTR_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|12/13|n.*902A>G|||||9725|,C|downstream_gene_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding||c.*693A>G|||||219|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|12/13|n.*902A>G|||||| 22 30857448 . A G . . ANN=G|synonymous_variant|LOW|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|11/12|c.930T>C|p.Asp310Asp|1021/2086|930/1203|310/400||,G|synonymous_variant|LOW|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding|10/11|c.753T>C|p.Asp251Asp|879/2316|753/1062|251/353||,G|synonymous_variant|LOW|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|12/13|c.753T>C|p.Asp251Asp|1037/2474|753/1062|251/353||,G|synonymous_variant|LOW|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding|11/12|c.699T>C|p.Asp233Asp|1049/1837|699/972|233/323||,G|synonymous_variant|LOW|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding|12/13|c.753T>C|p.Asp251Asp|1006/1794|753/1026|251/341||,G|synonymous_variant|LOW|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|13/14|c.699T>C|p.Asp233Asp|1176/1964|699/972|233/323||,G|synonymous_variant|LOW|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding|12/13|c.753T>C|p.Asp251Asp|1076/1864|753/1026|251/341||,G|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000215812|protein_coding|11/12|c.930T>C||||||,G|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000215812|protein_coding|10/12|c.930T>C||||||,G|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000215812|protein_coding|12/12|c.930T>C||||||,G|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000540910|protein_coding|11/12|c.699T>C||||||,G|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000540910|protein_coding|12/12|c.699T>C||||||,G|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000540910|protein_coding|10/12|c.699T>C||||||,G|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000401751|protein_coding|12/13|c.753T>C||||||,G|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000401751|protein_coding|13/13|c.753T>C||||||,G|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000401751|protein_coding|11/13|c.753T>C||||||,G|3_prime_UTR_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|12/13|n.*892T>C|||||9715|,G|downstream_gene_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding||c.*693T>C|||||209|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|12/13|n.*892T>C|||||| 22 30857477 . G GA . . ANN=A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000215812|protein_coding|11/12|c.912-12dupT||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000215812|protein_coding|10/12|c.912-12dupT||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000215812|protein_coding|12/12|c.912-12dupT||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000540910|protein_coding|11/12|c.681-12dupT||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000540910|protein_coding|12/12|c.681-12dupT||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000540910|protein_coding|10/12|c.681-12dupT||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000401751|protein_coding|12/13|c.735-12dupT||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000401751|protein_coding|13/13|c.735-12dupT||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000401751|protein_coding|11/13|c.735-12dupT||||||,A|downstream_gene_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding||c.*693dupT|||||179|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|10/11|c.912-12dupT||||||,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding|9/10|c.735-12dupT||||||,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|11/12|c.735-12dupT||||||,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding|10/11|c.681-12dupT||||||,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding|11/12|c.735-12dupT||||||,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|12/13|c.681-12dupT||||||,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|11/12|n.*874-12dupT||||||,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding|11/12|c.735-12dupT|||||| 22 30857549 . C T . . ANN=T|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|10/12|c.904G>A|p.Val302Ile|995/2086|904/1203|302/400||,T|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding|9/11|c.727G>A|p.Val243Ile|853/2316|727/1062|243/353||,T|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|11/13|c.727G>A|p.Val243Ile|1011/2474|727/1062|243/353||,T|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding|10/12|c.673G>A|p.Val225Ile|1023/1837|673/972|225/323||,T|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding|11/13|c.727G>A|p.Val243Ile|980/1794|727/1026|243/341||,T|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|12/14|c.673G>A|p.Val225Ile|1150/1964|673/972|225/323||,T|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding|11/13|c.727G>A|p.Val243Ile|1050/1864|727/1026|243/341||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000215812|protein_coding|11/12|c.904G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000215812|protein_coding|10/12|c.904G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000215812|protein_coding|12/12|c.904G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000540910|protein_coding|11/12|c.673G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000540910|protein_coding|12/12|c.673G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000540910|protein_coding|10/12|c.673G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000401751|protein_coding|12/13|c.727G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000401751|protein_coding|13/13|c.727G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000401751|protein_coding|11/13|c.727G>A||||||,T|3_prime_UTR_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|11/13|n.*866G>A|||||9614|,T|downstream_gene_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding||c.*693G>A|||||108|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|11/13|n.*866G>A|||||| 22 30857619 . G A . . ANN=A|synonymous_variant|LOW|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|10/12|c.834C>T|p.Tyr278Tyr|925/2086|834/1203|278/400||,A|synonymous_variant|LOW|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding|9/11|c.657C>T|p.Tyr219Tyr|783/2316|657/1062|219/353||,A|synonymous_variant|LOW|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|11/13|c.657C>T|p.Tyr219Tyr|941/2474|657/1062|219/353||,A|synonymous_variant|LOW|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding|10/12|c.603C>T|p.Tyr201Tyr|953/1837|603/972|201/323||,A|synonymous_variant|LOW|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding|11/13|c.657C>T|p.Tyr219Tyr|910/1794|657/1026|219/341||,A|synonymous_variant|LOW|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|12/14|c.603C>T|p.Tyr201Tyr|1080/1964|603/972|201/323||,A|synonymous_variant|LOW|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding|11/13|c.657C>T|p.Tyr219Tyr|980/1864|657/1026|219/341||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000215812|protein_coding|11/12|c.834C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000215812|protein_coding|10/12|c.834C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000215812|protein_coding|12/12|c.834C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000540910|protein_coding|11/12|c.603C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000540910|protein_coding|12/12|c.603C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000540910|protein_coding|10/12|c.603C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000401751|protein_coding|12/13|c.657C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000401751|protein_coding|13/13|c.657C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000401751|protein_coding|11/13|c.657C>T||||||,A|3_prime_UTR_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|11/13|n.*796C>T|||||9544|,A|downstream_gene_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding||c.*693C>T|||||38|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|11/13|n.*796C>T|||||| 22 30857634 . C T . . ANN=T|synonymous_variant|LOW|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|10/12|c.819G>A|p.Gln273Gln|910/2086|819/1203|273/400||,T|synonymous_variant|LOW|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding|9/11|c.642G>A|p.Gln214Gln|768/2316|642/1062|214/353||,T|synonymous_variant|LOW|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|11/13|c.642G>A|p.Gln214Gln|926/2474|642/1062|214/353||,T|synonymous_variant|LOW|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding|10/12|c.588G>A|p.Gln196Gln|938/1837|588/972|196/323||,T|synonymous_variant|LOW|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding|11/13|c.642G>A|p.Gln214Gln|895/1794|642/1026|214/341||,T|synonymous_variant|LOW|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|12/14|c.588G>A|p.Gln196Gln|1065/1964|588/972|196/323||,T|synonymous_variant|LOW|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding|11/13|c.642G>A|p.Gln214Gln|965/1864|642/1026|214/341||,T|3_prime_UTR_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|11/13|n.*781G>A|||||9529|,T|downstream_gene_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding||c.*693G>A|||||23|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|11/13|n.*781G>A|||||| 22 30857645 . C G . . ANN=G|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|10/12|c.808G>C|p.Val270Leu|899/2086|808/1203|270/400||,G|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding|9/11|c.631G>C|p.Val211Leu|757/2316|631/1062|211/353||,G|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|11/13|c.631G>C|p.Val211Leu|915/2474|631/1062|211/353||,G|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding|10/12|c.577G>C|p.Val193Leu|927/1837|577/972|193/323||,G|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding|11/13|c.631G>C|p.Val211Leu|884/1794|631/1026|211/341||,G|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|12/14|c.577G>C|p.Val193Leu|1054/1964|577/972|193/323||,G|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding|11/13|c.631G>C|p.Val211Leu|954/1864|631/1026|211/341||,G|3_prime_UTR_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|11/13|n.*770G>C|||||9518|,G|downstream_gene_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding||c.*693G>C|||||12|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|11/13|n.*770G>C|||||| 22 30857699 . G A . . ANN=A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|9/11|c.772-18C>T||||||,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding|8/10|c.595-18C>T||||||,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|10/12|c.595-18C>T||||||,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding|9/11|c.541-18C>T||||||,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding|10/12|c.595-18C>T||||||,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|11/13|c.541-18C>T||||||,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|10/12|n.*734-18C>T||||||,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding|10/12|c.595-18C>T||||||,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding|7/7|c.667-18C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 30860830 . C T . . ANN=T|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|8/12|c.641G>A|p.Arg214His|732/2086|641/1203|214/400||,T|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding|7/11|c.464G>A|p.Arg155His|590/2316|464/1062|155/353||,T|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|9/13|c.464G>A|p.Arg155His|748/2474|464/1062|155/353||,T|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding|8/12|c.410G>A|p.Arg137His|760/1837|410/972|137/323||,T|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding|9/13|c.464G>A|p.Arg155His|717/1794|464/1026|155/341||,T|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|10/14|c.410G>A|p.Arg137His|887/1964|410/972|137/323||,T|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding|9/13|c.464G>A|p.Arg155His|787/1864|464/1026|155/341||,T|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding|6/8|c.536G>A|p.Arg179His|538/693|536/691|179/229||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|6/12|c.641G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|4/12|c.641G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|7/12|c.641G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|9/12|c.641G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|8/12|c.641G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|5/12|c.641G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|5/13|c.464G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|8/13|c.464G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|6/13|c.464G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|7/13|c.464G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|10/13|c.464G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|9/13|c.464G>A||||||,T|3_prime_UTR_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|9/13|n.*603G>A|||||6333|,T|non_coding_exon_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|9/13|n.*603G>A|||||| 22 30860831 . G A . . ANN=A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|8/12|c.640C>T|p.Arg214Cys|731/2086|640/1203|214/400||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding|7/11|c.463C>T|p.Arg155Cys|589/2316|463/1062|155/353||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|9/13|c.463C>T|p.Arg155Cys|747/2474|463/1062|155/353||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding|8/12|c.409C>T|p.Arg137Cys|759/1837|409/972|137/323||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding|9/13|c.463C>T|p.Arg155Cys|716/1794|463/1026|155/341||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|10/14|c.409C>T|p.Arg137Cys|886/1964|409/972|137/323||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding|9/13|c.463C>T|p.Arg155Cys|786/1864|463/1026|155/341||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding|6/8|c.535C>T|p.Arg179Cys|537/693|535/691|179/229||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|6/12|c.640C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|4/12|c.640C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|7/12|c.640C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|9/12|c.640C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|8/12|c.640C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|5/12|c.640C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|5/13|c.463C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|8/13|c.463C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|6/13|c.463C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|7/13|c.463C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|10/13|c.463C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|9/13|c.463C>T||||||,A|3_prime_UTR_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|9/13|n.*602C>T|||||6332|,A|non_coding_exon_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|9/13|n.*602C>T|||||| 22 30860934 . T C . . ANN=C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|6/12|c.581-44A>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|4/12|c.581-44A>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|7/12|c.581-44A>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|9/12|c.581-44A>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|8/12|c.581-44A>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|5/12|c.581-44A>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|5/13|c.404-44A>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|8/13|c.404-44A>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|6/13|c.404-44A>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|7/13|c.404-44A>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|10/13|c.404-44A>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|9/13|c.404-44A>G||||||,C|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|7/11|c.581-44A>G||||||,C|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding|6/10|c.404-44A>G||||||,C|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|8/12|c.404-44A>G||||||,C|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding|7/11|c.350-44A>G||||||,C|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding|8/12|c.404-44A>G||||||,C|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|9/13|c.350-44A>G||||||,C|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|8/12|n.*543-44A>G||||||,C|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding|8/12|c.404-44A>G||||||,C|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding|5/7|c.476-44A>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 30862291 . C T . . ANN=T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|6/12|c.580+30G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|4/12|c.580+30G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|7/12|c.580+30G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|9/12|c.580+30G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|8/12|c.580+30G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|5/12|c.580+30G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|5/13|c.403+30G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|8/13|c.403+30G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|6/13|c.403+30G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|7/13|c.403+30G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|10/13|c.403+30G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|9/13|c.403+30G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|7/11|c.580+30G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding|6/10|c.403+30G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|8/12|c.403+30G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding|7/11|c.349+30G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding|8/12|c.403+30G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|9/13|c.349+30G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|8/12|n.*542+30G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding|8/12|c.403+30G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding|5/7|c.475+30G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 30862293 . C T . . ANN=T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|6/12|c.580+28G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|4/12|c.580+28G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|7/12|c.580+28G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|9/12|c.580+28G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|8/12|c.580+28G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|5/12|c.580+28G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|5/13|c.403+28G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|8/13|c.403+28G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|6/13|c.403+28G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|7/13|c.403+28G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|10/13|c.403+28G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|9/13|c.403+28G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|7/11|c.580+28G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding|6/10|c.403+28G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|8/12|c.403+28G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding|7/11|c.349+28G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding|8/12|c.403+28G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|9/13|c.349+28G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|8/12|n.*542+28G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding|8/12|c.403+28G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding|5/7|c.475+28G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 30862373 . G A . . ANN=A|synonymous_variant|LOW|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|7/12|c.528C>T|p.Gly176Gly|619/2086|528/1203|176/400||,A|synonymous_variant|LOW|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding|6/11|c.351C>T|p.Gly117Gly|477/2316|351/1062|117/353||,A|synonymous_variant|LOW|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|8/13|c.351C>T|p.Gly117Gly|635/2474|351/1062|117/353||,A|synonymous_variant|LOW|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding|7/12|c.297C>T|p.Gly99Gly|647/1837|297/972|99/323||,A|synonymous_variant|LOW|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding|8/13|c.351C>T|p.Gly117Gly|604/1794|351/1026|117/341||,A|synonymous_variant|LOW|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|9/14|c.297C>T|p.Gly99Gly|774/1964|297/972|99/323||,A|synonymous_variant|LOW|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding|8/13|c.351C>T|p.Gly117Gly|674/1864|351/1026|117/341||,A|synonymous_variant|LOW|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding|5/8|c.423C>T|p.Gly141Gly|425/693|423/691|141/229||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|6/12|c.528C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|4/12|c.528C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|7/12|c.528C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|9/12|c.528C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|8/12|c.528C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|5/12|c.528C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|5/13|c.351C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|8/13|c.351C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|6/13|c.351C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|7/13|c.351C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|10/13|c.351C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|9/13|c.351C>T||||||,A|3_prime_UTR_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|8/13|n.*490C>T|||||4790|,A|non_coding_exon_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|8/13|n.*490C>T|||||| 22 30862400 . T A . . ANN=A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|6/12|c.520-19A>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|4/12|c.520-19A>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|7/12|c.520-19A>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|9/12|c.520-19A>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|8/12|c.520-19A>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|5/12|c.520-19A>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|5/13|c.343-19A>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|8/13|c.343-19A>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|6/13|c.343-19A>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|7/13|c.343-19A>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|10/13|c.343-19A>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|9/13|c.343-19A>T||||||,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|6/11|c.520-19A>T||||||,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding|5/10|c.343-19A>T||||||,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|7/12|c.343-19A>T||||||,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding|6/11|c.289-19A>T||||||,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding|7/12|c.343-19A>T||||||,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|8/13|c.289-19A>T||||||,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|7/12|n.*482-19A>T||||||,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding|7/12|c.343-19A>T||||||,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding|4/7|c.415-19A>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 30862941 . G A . . ANN=A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|6/12|c.519+28C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|4/12|c.519+28C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|7/12|c.519+28C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|9/12|c.519+28C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|8/12|c.519+28C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|5/12|c.519+28C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|5/13|c.342+28C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|8/13|c.342+28C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|6/13|c.342+28C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|7/13|c.342+28C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|10/13|c.342+28C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|9/13|c.342+28C>T||||||,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|6/11|c.519+28C>T||||||,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding|5/10|c.342+28C>T||||||,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|7/12|c.342+28C>T||||||,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding|6/11|c.288+28C>T||||||,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding|7/12|c.342+28C>T||||||,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|8/13|c.288+28C>T||||||,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|7/12|n.*481+28C>T||||||,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding|7/12|c.342+28C>T||||||,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding|4/7|c.414+28C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 30863040 . C T . . ANN=T|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|6/12|c.448G>A|p.Val150Met|539/2086|448/1203|150/400||,T|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding|5/11|c.271G>A|p.Val91Met|397/2316|271/1062|91/353||,T|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|7/13|c.271G>A|p.Val91Met|555/2474|271/1062|91/353||,T|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding|6/12|c.217G>A|p.Val73Met|567/1837|217/972|73/323||,T|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding|7/13|c.271G>A|p.Val91Met|524/1794|271/1026|91/341||,T|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|8/14|c.217G>A|p.Val73Met|694/1964|217/972|73/323||,T|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding|7/13|c.271G>A|p.Val91Met|594/1864|271/1026|91/341||,T|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding|4/8|c.343G>A|p.Val115Met|345/693|343/691|115/229||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|6/12|c.448G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|4/12|c.448G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|7/12|c.448G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|9/12|c.448G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|8/12|c.448G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|5/12|c.448G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|5/13|c.271G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|8/13|c.271G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|6/13|c.271G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|7/13|c.271G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|10/13|c.271G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|9/13|c.271G>A||||||,T|3_prime_UTR_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|7/13|n.*410G>A|||||4123|,T|non_coding_exon_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|7/13|n.*410G>A|||||| 22 30864463 . C T . . ANN=T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|6/12|c.423+32G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|4/12|c.423+32G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|7/12|c.423+32G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|9/12|c.423+32G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|8/12|c.423+32G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|5/12|c.423+32G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|5/13|c.246+32G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|8/13|c.246+32G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|6/13|c.246+32G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|7/13|c.246+32G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|10/13|c.246+32G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|9/13|c.246+32G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|5/11|c.423+32G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding|4/10|c.246+32G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|6/12|c.246+32G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding|5/11|c.192+32G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding|6/12|c.246+32G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|7/13|c.192+32G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|6/12|n.*385+32G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding|6/12|c.246+32G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding|3/7|c.318+32G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 30864494 . C A . . ANN=A|splice_donor_variant&intron_variant|HIGH|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|5/11|c.423+1G>T||||||,A|splice_donor_variant&intron_variant|HIGH|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding|4/10|c.246+1G>T||||||,A|splice_donor_variant&intron_variant|HIGH|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|6/12|c.246+1G>T||||||,A|splice_donor_variant&intron_variant|HIGH|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding|5/11|c.192+1G>T||||||,A|splice_donor_variant&intron_variant|HIGH|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding|6/12|c.246+1G>T||||||,A|splice_donor_variant&intron_variant|HIGH|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|7/13|c.192+1G>T||||||,A|splice_donor_variant&intron_variant|HIGH|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|6/12|n.*385+1G>T||||||,A|splice_donor_variant&intron_variant|HIGH|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding|6/12|c.246+1G>T||||||,A|splice_donor_variant&intron_variant|HIGH|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding|3/7|c.318+1G>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|6/12|c.423+1G>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|4/12|c.423+1G>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|7/12|c.423+1G>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|9/12|c.423+1G>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|8/12|c.423+1G>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|5/12|c.423+1G>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|5/13|c.246+1G>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|8/13|c.246+1G>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|6/13|c.246+1G>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|7/13|c.246+1G>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|10/13|c.246+1G>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|9/13|c.246+1G>T||||||;LOF=(SEC14L3|ENSG00000100012|9|0.89) 22 30864545 . T A . . ANN=A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|5/12|c.373A>T|p.Met125Leu|464/2086|373/1203|125/400||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding|4/11|c.196A>T|p.Met66Leu|322/2316|196/1062|66/353||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|6/13|c.196A>T|p.Met66Leu|480/2474|196/1062|66/353||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding|5/12|c.142A>T|p.Met48Leu|492/1837|142/972|48/323||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding|6/13|c.196A>T|p.Met66Leu|449/1794|196/1026|66/341||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|7/14|c.142A>T|p.Met48Leu|619/1964|142/972|48/323||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding|6/13|c.196A>T|p.Met66Leu|519/1864|196/1026|66/341||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding|3/8|c.268A>T|p.Met90Leu|270/693|268/691|90/229||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|6/12|c.373A>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|4/12|c.373A>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|7/12|c.373A>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|9/12|c.373A>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|8/12|c.373A>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|5/12|c.373A>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|5/13|c.196A>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|8/13|c.196A>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|6/13|c.196A>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|7/13|c.196A>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|10/13|c.196A>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|9/13|c.196A>T||||||,A|3_prime_UTR_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|6/13|n.*335A>T|||||2618|,A|non_coding_exon_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|6/13|n.*335A>T|||||| 22 30864610 . A G . . ANN=G|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|5/12|c.308T>C|p.Ile103Thr|399/2086|308/1203|103/400||,G|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding|4/11|c.131T>C|p.Ile44Thr|257/2316|131/1062|44/353||,G|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|6/13|c.131T>C|p.Ile44Thr|415/2474|131/1062|44/353||,G|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding|5/12|c.77T>C|p.Ile26Thr|427/1837|77/972|26/323||,G|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding|6/13|c.131T>C|p.Ile44Thr|384/1794|131/1026|44/341||,G|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|7/14|c.77T>C|p.Ile26Thr|554/1964|77/972|26/323||,G|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding|6/13|c.131T>C|p.Ile44Thr|454/1864|131/1026|44/341||,G|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding|3/8|c.203T>C|p.Ile68Thr|205/693|203/691|68/229||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|6/12|c.308T>C||||||,G|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|4/12|c.308T>C||||||,G|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|7/12|c.308T>C||||||,G|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|9/12|c.308T>C||||||,G|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|8/12|c.308T>C||||||,G|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|5/12|c.308T>C||||||,G|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|5/13|c.131T>C||||||,G|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|8/13|c.131T>C||||||,G|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|6/13|c.131T>C||||||,G|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|7/13|c.131T>C||||||,G|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|10/13|c.131T>C||||||,G|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|9/13|c.131T>C||||||,G|3_prime_UTR_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|6/13|n.*270T>C|||||2553|,G|non_coding_exon_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|6/13|n.*270T>C|||||| 22 30864655 . A G . . ANN=G|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|5/12|c.263T>C|p.Leu88Pro|354/2086|263/1203|88/400||,G|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding|4/11|c.86T>C|p.Leu29Pro|212/2316|86/1062|29/353||,G|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|6/13|c.86T>C|p.Leu29Pro|370/2474|86/1062|29/353||,G|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding|5/12|c.32T>C|p.Leu11Pro|382/1837|32/972|11/323||,G|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding|6/13|c.86T>C|p.Leu29Pro|339/1794|86/1026|29/341||,G|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|7/14|c.32T>C|p.Leu11Pro|509/1964|32/972|11/323||,G|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding|6/13|c.86T>C|p.Leu29Pro|409/1864|86/1026|29/341||,G|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding|3/8|c.158T>C|p.Leu53Pro|160/693|158/691|53/229||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|6/12|c.263T>C||||||,G|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|4/12|c.263T>C||||||,G|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|7/12|c.263T>C||||||,G|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|9/12|c.263T>C||||||,G|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|8/12|c.263T>C||||||,G|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|5/12|c.263T>C||||||,G|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|5/13|c.86T>C||||||,G|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|8/13|c.86T>C||||||,G|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|6/13|c.86T>C||||||,G|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|7/13|c.86T>C||||||,G|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|10/13|c.86T>C||||||,G|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|9/13|c.86T>C||||||,G|3_prime_UTR_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|6/13|n.*225T>C|||||2508|,G|non_coding_exon_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|6/13|n.*225T>C|||||| 22 30864692 . G A . . ANN=A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|6/12|c.235-9C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|4/12|c.235-9C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|7/12|c.235-9C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|9/12|c.235-9C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|8/12|c.235-9C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|5/12|c.235-9C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|5/13|c.58-9C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|8/13|c.58-9C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|6/13|c.58-9C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|7/13|c.58-9C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|10/13|c.58-9C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|9/13|c.58-9C>T||||||,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|4/11|c.235-9C>T||||||,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding|3/10|c.58-9C>T||||||,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|5/12|c.58-9C>T||||||,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding|4/11|c.4-9C>T||||||,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding|5/12|c.58-9C>T||||||,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|6/13|c.4-9C>T||||||,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|5/12|n.*197-9C>T||||||,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding|5/12|c.58-9C>T||||||,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding|2/7|c.130-9C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 30864720 . C T . . ANN=T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|6/12|c.235-37G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|4/12|c.235-37G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|7/12|c.235-37G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|9/12|c.235-37G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|8/12|c.235-37G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|5/12|c.235-37G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|5/13|c.58-37G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|8/13|c.58-37G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|6/13|c.58-37G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|7/13|c.58-37G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|10/13|c.58-37G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|9/13|c.58-37G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|4/11|c.235-37G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding|3/10|c.58-37G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|5/12|c.58-37G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding|4/11|c.4-37G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding|5/12|c.58-37G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|6/13|c.4-37G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|5/12|n.*197-37G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding|5/12|c.58-37G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding|2/7|c.130-37G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 30865966 . C T . . ANN=T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|6/12|c.234+40G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|4/12|c.234+40G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|7/12|c.234+40G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|9/12|c.234+40G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|8/12|c.234+40G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|5/12|c.234+40G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|5/13|c.57+40G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|8/13|c.57+40G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|6/13|c.57+40G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|7/13|c.57+40G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|10/13|c.57+40G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|9/13|c.57+40G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|4/11|c.234+40G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding|3/10|c.57+40G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|5/12|c.57+40G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding|3/11|c.-168+40G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding|5/12|c.57+40G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|5/13|c.-168+40G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|5/12|n.*196+40G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding|5/12|c.57+40G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding|2/7|c.129+40G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 30865992 . C T . . ANN=T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|6/12|c.234+14G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|4/12|c.234+14G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|7/12|c.234+14G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|9/12|c.234+14G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|8/12|c.234+14G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|5/12|c.234+14G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|5/13|c.57+14G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|8/13|c.57+14G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|6/13|c.57+14G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|7/13|c.57+14G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|10/13|c.57+14G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|9/13|c.57+14G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|4/11|c.234+14G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding|3/10|c.57+14G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|5/12|c.57+14G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding|3/11|c.-168+14G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding|5/12|c.57+14G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|5/13|c.-168+14G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|5/12|n.*196+14G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding|5/12|c.57+14G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding|2/7|c.129+14G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 30866053 . G A . . ANN=A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|4/12|c.187C>T|p.Arg63Trp|278/2086|187/1203|63/400||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding|3/11|c.10C>T|p.Arg4Trp|136/2316|10/1062|4/353||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|5/13|c.10C>T|p.Arg4Trp|294/2474|10/1062|4/353||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding|5/13|c.10C>T|p.Arg4Trp|263/1794|10/1026|4/341||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding|5/13|c.10C>T|p.Arg4Trp|333/1864|10/1026|4/341||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding|2/8|c.82C>T|p.Arg28Trp|84/693|82/691|28/229||WARNING_TRANSCRIPT_INCOMPLETE,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding|3/12|c.-215C>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|5/14|c.-215C>T||||||,A|5_prime_UTR_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding|3/12|c.-215C>T|||||1275|,A|5_prime_UTR_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|5/14|c.-215C>T|||||1275|,A|3_prime_UTR_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|5/13|n.*149C>T|||||1110|,A|non_coding_exon_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|5/13|n.*149C>T|||||| 22 30866272 . C G . . ANN=G|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|2/11|c.131-30G>C||||||,G|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding|1/10|c.-47-30G>C||||||,G|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|3/12|c.-47-30G>C||||||,G|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding|1/11|c.-271-30G>C||||||,G|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding|3/12|c.-47-30G>C||||||,G|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|3/13|c.-271-30G>C||||||,G|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|3/12|n.*93-30G>C||||||,G|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding|3/12|c.-47-30G>C||||||,G|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding|1/7|c.70-207G>C||||||WARNING_TRANSCRIPT_INCOMPLETE 22 30866462 . CT C . . ANN=|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|2/11|c.130+31delA||||||,|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding|1/10|c.-48+31delA||||||,|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|3/12|c.-48+31delA||||||,|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding|1/11|c.-272+31delA||||||,|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding|3/12|c.-48+31delA||||||,|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|3/13|c.-272+31delA||||||,|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|3/12|n.*92+31delA||||||,|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding|3/12|c.-48+31delA||||||,|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding|1/7|c.69+31delA||||||WARNING_TRANSCRIPT_INCOMPLETE 22 30866471 . A G . . ANN=G|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|2/11|c.130+23T>C||||||,G|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding|1/10|c.-48+23T>C||||||,G|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|3/12|c.-48+23T>C||||||,G|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding|1/11|c.-272+23T>C||||||,G|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding|3/12|c.-48+23T>C||||||,G|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|3/13|c.-272+23T>C||||||,G|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|3/12|n.*92+23T>C||||||,G|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding|3/12|c.-48+23T>C||||||,G|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding|1/7|c.69+23T>C||||||WARNING_TRANSCRIPT_INCOMPLETE 22 30867865 . C T . . ANN=T|upstream_gene_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding||c.-127G>A|||||1293|,T|upstream_gene_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding||c.-351G>A|||||1293|,T|upstream_gene_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding||c.-3G>A|||||1301|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|1/11|c.54+27G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|1/12|c.-172+27G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding|1/12|c.-172+27G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|1/13|c.-396+27G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|1/12|n.54+27G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding|1/12|c.-242+27G>A|||||| 22 30867866 . G A . . ANN=A|upstream_gene_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding||c.-127C>T|||||1294|,A|upstream_gene_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding||c.-351C>T|||||1294|,A|upstream_gene_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding||c.-3C>T|||||1302|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|1/11|c.54+26C>T||||||,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|1/12|c.-172+26C>T||||||,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding|1/12|c.-172+26C>T||||||,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|1/13|c.-396+26C>T||||||,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|1/12|n.54+26C>T||||||,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding|1/12|c.-242+26C>T|||||| 22 30867940 . G A . . ANN=A|synonymous_variant|LOW|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|1/12|c.6C>T|p.Ser2Ser|97/2086|6/1203|2/400||,A|5_prime_UTR_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|1/13|c.-220C>T|||||1878|,A|5_prime_UTR_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding|1/13|c.-220C>T|||||1878|,A|5_prime_UTR_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|1/14|c.-444C>T|||||3162|,A|5_prime_UTR_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding|1/13|c.-290C>T|||||1878|,A|upstream_gene_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding||c.-127C>T|||||1368|,A|upstream_gene_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding||c.-351C>T|||||1368|,A|upstream_gene_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding||c.-3C>T|||||1376|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|1/13|n.6C>T|||||| 22 30867965 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|1/12|c.-20C>T|||||20|,A|5_prime_UTR_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|1/13|c.-245C>T|||||1903|,A|5_prime_UTR_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding|1/13|c.-245C>T|||||1903|,A|5_prime_UTR_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|1/14|c.-469C>T|||||3187|,A|5_prime_UTR_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|1/13|n.-20C>T|||||20|,A|5_prime_UTR_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding|1/13|c.-315C>T|||||1903|,A|upstream_gene_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding||c.-127C>T|||||1393|,A|upstream_gene_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding||c.-351C>T|||||1393|,A|upstream_gene_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding||c.-3C>T|||||1401|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|1/13|n.-20C>T|||||| 22 30867981 . T C . . ANN=C|5_prime_UTR_premature_start_codon_gain_variant|LOW|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|1/12|c.-36A>G||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|1/13|c.-261A>G||||||,C|5_prime_UTR_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|1/12|c.-36A>G|||||36|,C|5_prime_UTR_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|1/13|c.-261A>G|||||1919|,C|upstream_gene_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding||c.-127A>G|||||1409|,C|upstream_gene_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding||c.-351A>G|||||1409|,C|upstream_gene_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding||c.-254A>G|||||8|,C|upstream_gene_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding||c.-478A>G|||||8|,C|upstream_gene_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay||n.-29A>G|||||8|,C|upstream_gene_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding||c.-324A>G|||||8|,C|upstream_gene_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding||c.-3A>G|||||1417|WARNING_TRANSCRIPT_INCOMPLETE 22 30886156 . C T . . ANN=T|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|12/12|c.1159G>A|p.Asp387Asn|1243/2499|1159/1221|387/406||,T|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|13/13|c.1114G>A|p.Asp372Asn|1308/2564|1114/1176|372/391||,T|synonymous_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|12/12|c.1041G>A|p.Pro347Pro|1319/2575|1041/1083|347/360||,T|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|12/12|n.*1102G>A|||||13537|,T|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|13/13|n.*926G>A|||||5415|,T|upstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000442126|antisense||n.-1C>T|||||1633|,T|intron_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000610156|antisense|1/2|n.487-1709C>T||||||,T|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|11/11|c.1082-291G>A||||||,T|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|12/12|n.*1102G>A||||||,T|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|13/13|n.*926G>A|||||| 22 30886214 . G A . . ANN=A|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|12/12|c.983C>T|p.Thr328Ile|1261/2575|983/1083|328/360||,A|synonymous_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|12/12|c.1101C>T|p.Asn367Asn|1185/2499|1101/1221|367/406||,A|synonymous_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|13/13|c.1056C>T|p.Asn352Asn|1250/2564|1056/1176|352/391||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:GOLD|ENST00000255858|protein_coding|11/12|c.1101C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:GOLD|ENST00000255858|protein_coding|9/12|c.1101C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:GOLD|ENST00000255858|protein_coding|10/12|c.1101C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:GOLD|ENST00000255858|protein_coding|12/12|c.1101C>T||||||,A|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|12/12|n.*1044C>T|||||13479|,A|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|13/13|n.*868C>T|||||5357|,A|upstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000442126|antisense||n.-1G>A|||||1575|,A|intron_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000610156|antisense|1/2|n.487-1651G>A||||||,A|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|11/11|c.1082-349C>T||||||,A|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|12/12|n.*1044C>T||||||,A|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|13/13|n.*868C>T|||||| 22 30886224 . C T . . ANN=T|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|12/12|c.1091G>A|p.Arg364His|1175/2499|1091/1221|364/406||,T|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|12/12|c.973G>A|p.Ala325Thr|1251/2575|973/1083|325/360||,T|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|13/13|c.1046G>A|p.Arg349His|1240/2564|1046/1176|349/391||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:GOLD|ENST00000255858|protein_coding|11/12|c.1091G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:GOLD|ENST00000255858|protein_coding|9/12|c.1091G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:GOLD|ENST00000255858|protein_coding|10/12|c.1091G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:GOLD|ENST00000255858|protein_coding|12/12|c.1091G>A||||||,T|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|12/12|n.*1034G>A|||||13469|,T|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|13/13|n.*858G>A|||||5347|,T|upstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000442126|antisense||n.-1C>T|||||1565|,T|intron_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000610156|antisense|1/2|n.487-1641C>T||||||,T|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|11/11|c.1082-359G>A||||||,T|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|12/12|n.*1034G>A||||||,T|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|13/13|n.*858G>A|||||| 22 30886271 . C T . . ANN=T|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|12/12|c.926G>A|p.Arg309Gln|1204/2575|926/1083|309/360||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:GOLD|ENST00000255858|protein_coding|11/12|c.1082-38G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:GOLD|ENST00000255858|protein_coding|9/12|c.1082-38G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:GOLD|ENST00000255858|protein_coding|10/12|c.1082-38G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:GOLD|ENST00000255858|protein_coding|12/12|c.1082-38G>A||||||,T|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|12/12|n.*987G>A|||||13422|,T|upstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000442126|antisense||n.-1C>T|||||1518|,T|intron_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000610156|antisense|1/2|n.487-1594C>T||||||,T|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|11/11|c.1082-38G>A||||||,T|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|12/12|n.*849-38G>A||||||,T|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|12/12|c.1037-38G>A||||||,T|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|11/11|c.1082-406G>A||||||,T|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|12/12|n.*987G>A|||||| 22 30887555 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|11/11|c.1081+5G>A||||||,T|splice_region_variant&intron_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|11/11|n.*980+5G>A||||||,T|splice_region_variant&intron_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|12/12|n.*848+5G>A||||||,T|splice_region_variant&intron_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|11/11|c.919+5G>A||||||,T|splice_region_variant&intron_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|12/12|c.1036+5G>A||||||,T|splice_region_variant&intron_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|11/11|c.1081+5G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:GOLD|ENST00000255858|protein_coding|11/12|c.1081+5G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:GOLD|ENST00000255858|protein_coding|9/12|c.1081+5G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:GOLD|ENST00000255858|protein_coding|10/12|c.1081+5G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:GOLD|ENST00000255858|protein_coding|12/12|c.1081+5G>A||||||,T|upstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000442126|antisense||n.-1C>T|||||234|,T|intron_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000610156|antisense|1/2|n.487-310C>T|||||| 22 30887668 . C G . . ANN=G|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|11/12|c.973G>C|p.Gly325Arg|1057/2499|973/1221|325/406||,G|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|11/12|c.811G>C|p.Gly271Arg|1089/2575|811/1083|271/360||,G|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|12/13|c.928G>C|p.Gly310Arg|1122/2564|928/1176|310/391||,G|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|11/12|c.973G>C|p.Gly325Arg|1012/1603|973/1083|325/360||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:GOLD|ENST00000255858|protein_coding|11/12|c.973G>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:GOLD|ENST00000255858|protein_coding|9/12|c.973G>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:GOLD|ENST00000255858|protein_coding|10/12|c.973G>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:GOLD|ENST00000255858|protein_coding|12/12|c.973G>C||||||,G|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|11/12|n.*872G>C|||||12025|,G|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|12/13|n.*740G>C|||||3903|,G|upstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000442126|antisense||n.-1C>G|||||121|,G|intron_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000610156|antisense|1/2|n.487-197C>G||||||,G|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|11/12|n.*872G>C||||||,G|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|12/13|n.*740G>C|||||| 22 30887919 . G A . . ANN=A|synonymous_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|10/12|c.813C>T|p.Cys271Cys|897/2499|813/1221|271/406||,A|synonymous_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|10/12|c.651C>T|p.Cys217Cys|929/2575|651/1083|217/360||,A|synonymous_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|11/13|c.768C>T|p.Cys256Cys|962/2564|768/1176|256/391||,A|synonymous_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|10/12|c.813C>T|p.Cys271Cys|852/1603|813/1083|271/360||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:GOLD|ENST00000255858|protein_coding|11/12|c.813C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:GOLD|ENST00000255858|protein_coding|9/12|c.813C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:GOLD|ENST00000255858|protein_coding|10/12|c.813C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:GOLD|ENST00000255858|protein_coding|12/12|c.813C>T||||||,A|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|10/12|n.*712C>T|||||11774|,A|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|11/13|n.*580C>T|||||3652|,A|non_coding_exon_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000610156|antisense|2/3|n.541G>A||||||,A|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|10/12|n.*712C>T||||||,A|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|11/13|n.*580C>T||||||,A|non_coding_exon_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000442126|antisense|1/2|n.131G>A|||||| 22 30888412 . C T . . ANN=T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|5/12|c.664+49G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|9/12|c.664+49G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|8/12|c.664+49G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|4/12|c.664+49G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|6/12|c.664+49G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|7/12|c.664+49G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|5/12|c.664+49G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|9/12|c.664+49G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|8/12|c.664+49G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|4/12|c.664+49G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|6/12|c.664+49G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|7/12|c.664+49G>A||||||,T|intron_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000610156|antisense|2/2|n.547-14C>T||||||,T|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|8/11|c.664+49G>A||||||,T|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|8/11|n.*563+49G>A||||||,T|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|9/12|n.*431+49G>A||||||,T|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|8/11|c.502+49G>A||||||,T|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|9/12|c.619+49G>A||||||,T|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|8/11|c.664+49G>A||||||,T|intron_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000442126|antisense|1/1|n.137-14C>T|||||| 22 30888485 . G A . . ANN=A|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|8/12|c.640C>T|p.Arg214Cys|724/2499|640/1221|214/406||,A|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|8/12|c.478C>T|p.Arg160Cys|756/2575|478/1083|160/360||,A|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|9/13|c.595C>T|p.Arg199Cys|789/2564|595/1176|199/391||,A|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|8/12|c.640C>T|p.Arg214Cys|679/1603|640/1083|214/360||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|5/12|c.640C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|9/12|c.640C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|8/12|c.640C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|4/12|c.640C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|6/12|c.640C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|7/12|c.640C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|5/12|c.640C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|9/12|c.640C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|8/12|c.640C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|4/12|c.640C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|6/12|c.640C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|7/12|c.640C>T||||||,A|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|8/12|n.*539C>T|||||11208|,A|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|9/13|n.*407C>T|||||3086|,A|non_coding_exon_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000610156|antisense|3/3|n.606G>A||||||,A|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|8/12|n.*539C>T||||||,A|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|9/13|n.*407C>T||||||,A|non_coding_exon_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000442126|antisense|2/2|n.196G>A|||||| 22 30888492 . C G . . ANN=G|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|8/12|c.633G>C|p.Glu211Asp|717/2499|633/1221|211/406||,G|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|8/12|c.471G>C|p.Glu157Asp|749/2575|471/1083|157/360||,G|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|9/13|c.588G>C|p.Glu196Asp|782/2564|588/1176|196/391||,G|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|8/12|c.633G>C|p.Glu211Asp|672/1603|633/1083|211/360||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|5/12|c.633G>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|9/12|c.633G>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|8/12|c.633G>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|4/12|c.633G>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|6/12|c.633G>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|7/12|c.633G>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|5/12|c.633G>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|9/12|c.633G>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|8/12|c.633G>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|4/12|c.633G>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|6/12|c.633G>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|7/12|c.633G>C||||||,G|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|8/12|n.*532G>C|||||11201|,G|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|9/13|n.*400G>C|||||3079|,G|non_coding_exon_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000610156|antisense|3/3|n.613C>G||||||,G|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|8/12|n.*532G>C||||||,G|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|9/13|n.*400G>C||||||,G|non_coding_exon_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000442126|antisense|2/2|n.203C>G|||||| 22 30888494 . C T . . ANN=T|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|8/12|c.631G>A|p.Glu211Lys|715/2499|631/1221|211/406||,T|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|8/12|c.469G>A|p.Glu157Lys|747/2575|469/1083|157/360||,T|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|9/13|c.586G>A|p.Glu196Lys|780/2564|586/1176|196/391||,T|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|8/12|c.631G>A|p.Glu211Lys|670/1603|631/1083|211/360||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|5/12|c.631G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|9/12|c.631G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|8/12|c.631G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|4/12|c.631G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|6/12|c.631G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|7/12|c.631G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|5/12|c.631G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|9/12|c.631G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|8/12|c.631G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|4/12|c.631G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|6/12|c.631G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|7/12|c.631G>A||||||,T|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|8/12|n.*530G>A|||||11199|,T|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|9/13|n.*398G>A|||||3077|,T|non_coding_exon_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000610156|antisense|3/3|n.615C>T||||||,T|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|8/12|n.*530G>A||||||,T|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|9/13|n.*398G>A||||||,T|non_coding_exon_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000442126|antisense|2/2|n.205C>T|||||| 22 30888504 . C T . . ANN=T|synonymous_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|8/12|c.621G>A|p.Ser207Ser|705/2499|621/1221|207/406||,T|synonymous_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|8/12|c.459G>A|p.Ser153Ser|737/2575|459/1083|153/360||,T|synonymous_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|9/13|c.576G>A|p.Ser192Ser|770/2564|576/1176|192/391||,T|synonymous_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|8/12|c.621G>A|p.Ser207Ser|660/1603|621/1083|207/360||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|5/12|c.621G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|9/12|c.621G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|8/12|c.621G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|4/12|c.621G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|6/12|c.621G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|7/12|c.621G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|5/12|c.621G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|9/12|c.621G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|8/12|c.621G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|4/12|c.621G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|6/12|c.621G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|7/12|c.621G>A||||||,T|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|8/12|n.*520G>A|||||11189|,T|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|9/13|n.*388G>A|||||3067|,T|non_coding_exon_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000610156|antisense|3/3|n.625C>T||||||,T|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|8/12|n.*520G>A||||||,T|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|9/13|n.*388G>A||||||,T|non_coding_exon_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000442126|antisense|2/2|n.215C>T|||||| 22 30888505 . G A . . ANN=A|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|8/12|c.620C>T|p.Ser207Leu|704/2499|620/1221|207/406||,A|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|8/12|c.458C>T|p.Ser153Leu|736/2575|458/1083|153/360||,A|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|9/13|c.575C>T|p.Ser192Leu|769/2564|575/1176|192/391||,A|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|8/12|c.620C>T|p.Ser207Leu|659/1603|620/1083|207/360||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|5/12|c.620C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|9/12|c.620C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|8/12|c.620C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|4/12|c.620C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|6/12|c.620C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|7/12|c.620C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|5/12|c.620C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|9/12|c.620C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|8/12|c.620C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|4/12|c.620C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|6/12|c.620C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|7/12|c.620C>T||||||,A|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|8/12|n.*519C>T|||||11188|,A|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|9/13|n.*387C>T|||||3066|,A|non_coding_exon_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000610156|antisense|3/3|n.626G>A||||||,A|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|8/12|n.*519C>T||||||,A|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|9/13|n.*387C>T||||||,A|non_coding_exon_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000442126|antisense|2/2|n.216G>A|||||| 22 30888527 . C T . . ANN=T|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|8/12|c.598G>A|p.Val200Met|682/2499|598/1221|200/406||,T|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|8/12|c.436G>A|p.Val146Met|714/2575|436/1083|146/360||,T|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|9/13|c.553G>A|p.Val185Met|747/2564|553/1176|185/391||,T|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|8/12|c.598G>A|p.Val200Met|637/1603|598/1083|200/360||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|5/12|c.598G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|9/12|c.598G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|8/12|c.598G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|4/12|c.598G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|6/12|c.598G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|7/12|c.598G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|5/12|c.598G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|9/12|c.598G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|8/12|c.598G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|4/12|c.598G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|6/12|c.598G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|7/12|c.598G>A||||||,T|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|8/12|n.*497G>A|||||11166|,T|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|9/13|n.*365G>A|||||3044|,T|non_coding_exon_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000610156|antisense|3/3|n.648C>T||||||,T|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|8/12|n.*497G>A||||||,T|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|9/13|n.*365G>A||||||,T|non_coding_exon_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000442126|antisense|2/2|n.238C>T|||||| 22 30888589 . G A . . ANN=A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|5/12|c.581-45C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|9/12|c.581-45C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|8/12|c.581-45C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|4/12|c.581-45C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|6/12|c.581-45C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|7/12|c.581-45C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|5/12|c.581-45C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|9/12|c.581-45C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|8/12|c.581-45C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|4/12|c.581-45C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|6/12|c.581-45C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|7/12|c.581-45C>T||||||,A|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|7/11|c.581-45C>T||||||,A|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|7/11|n.*480-45C>T||||||,A|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|8/12|n.*348-45C>T||||||,A|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|7/11|c.419-45C>T||||||,A|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|8/12|c.536-45C>T||||||,A|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|7/11|c.581-45C>T||||||,A|non_coding_exon_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000610156|antisense|3/3|n.710G>A||||||,A|non_coding_exon_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000442126|antisense|2/2|n.300G>A|||||| 22 30890087 . C T . . ANN=T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|5/12|c.580+50G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|9/12|c.580+50G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|8/12|c.580+50G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|4/12|c.580+50G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|6/12|c.580+50G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|7/12|c.580+50G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|5/12|c.580+50G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|9/12|c.580+50G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|8/12|c.580+50G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|4/12|c.580+50G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|6/12|c.580+50G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|7/12|c.580+50G>A||||||,T|downstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000610156|antisense||n.*876C>T|||||1332|,T|downstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000442126|antisense||n.*502C>T|||||1296|,T|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|7/11|c.580+50G>A||||||,T|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|7/11|n.*479+50G>A||||||,T|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|8/12|n.*347+50G>A||||||,T|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|7/11|c.418+50G>A||||||,T|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|8/12|c.535+50G>A||||||,T|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|7/11|c.580+50G>A|||||| 22 30890090 . A G . . ANN=G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|5/12|c.580+47T>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|9/12|c.580+47T>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|8/12|c.580+47T>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|4/12|c.580+47T>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|6/12|c.580+47T>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|7/12|c.580+47T>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|5/12|c.580+47T>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|9/12|c.580+47T>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|8/12|c.580+47T>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|4/12|c.580+47T>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|6/12|c.580+47T>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|7/12|c.580+47T>C||||||,G|downstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000610156|antisense||n.*876A>G|||||1335|,G|downstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000442126|antisense||n.*502A>G|||||1299|,G|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|7/11|c.580+47T>C||||||,G|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|7/11|n.*479+47T>C||||||,G|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|8/12|n.*347+47T>C||||||,G|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|7/11|c.418+47T>C||||||,G|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|8/12|c.535+47T>C||||||,G|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|7/11|c.580+47T>C|||||| 22 30890105 . T C . . ANN=C|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|5/12|c.580+32A>G||||||,C|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|9/12|c.580+32A>G||||||,C|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|8/12|c.580+32A>G||||||,C|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|4/12|c.580+32A>G||||||,C|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|6/12|c.580+32A>G||||||,C|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|7/12|c.580+32A>G||||||,C|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|5/12|c.580+32A>G||||||,C|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|9/12|c.580+32A>G||||||,C|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|8/12|c.580+32A>G||||||,C|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|4/12|c.580+32A>G||||||,C|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|6/12|c.580+32A>G||||||,C|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|7/12|c.580+32A>G||||||,C|downstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000610156|antisense||n.*876T>C|||||1350|,C|downstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000442126|antisense||n.*502T>C|||||1314|,C|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|7/11|c.580+32A>G||||||,C|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|7/11|n.*479+32A>G||||||,C|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|8/12|n.*347+32A>G||||||,C|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|7/11|c.418+32A>G||||||,C|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|8/12|c.535+32A>G||||||,C|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|7/11|c.580+32A>G|||||| 22 30890129 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|7/11|c.580+8C>T||||||,A|splice_region_variant&intron_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|7/11|n.*479+8C>T||||||,A|splice_region_variant&intron_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|8/12|n.*347+8C>T||||||,A|splice_region_variant&intron_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|7/11|c.418+8C>T||||||,A|splice_region_variant&intron_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|8/12|c.535+8C>T||||||,A|splice_region_variant&intron_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|7/11|c.580+8C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|5/12|c.580+8C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|9/12|c.580+8C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|8/12|c.580+8C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|4/12|c.580+8C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|6/12|c.580+8C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|7/12|c.580+8C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|5/12|c.580+8C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|9/12|c.580+8C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|8/12|c.580+8C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|4/12|c.580+8C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|6/12|c.580+8C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|7/12|c.580+8C>T||||||,A|downstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000610156|antisense||n.*876G>A|||||1374|,A|downstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000442126|antisense||n.*502G>A|||||1338| 22 30890171 . A G . . ANN=G|synonymous_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|7/12|c.546T>C|p.Tyr182Tyr|630/2499|546/1221|182/406||,G|synonymous_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|7/12|c.384T>C|p.Tyr128Tyr|662/2575|384/1083|128/360||,G|synonymous_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|8/13|c.501T>C|p.Tyr167Tyr|695/2564|501/1176|167/391||,G|synonymous_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|7/12|c.546T>C|p.Tyr182Tyr|585/1603|546/1083|182/360||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|5/12|c.546T>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|9/12|c.546T>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|8/12|c.546T>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|4/12|c.546T>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|6/12|c.546T>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|7/12|c.546T>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|5/12|c.546T>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|9/12|c.546T>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|8/12|c.546T>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|4/12|c.546T>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|6/12|c.546T>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|7/12|c.546T>C||||||,G|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|7/12|n.*445T>C|||||9522|,G|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|8/13|n.*313T>C|||||1400|,G|downstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000610156|antisense||n.*876A>G|||||1416|,G|downstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000442126|antisense||n.*502A>G|||||1380|,G|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|7/12|n.*445T>C||||||,G|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|8/13|n.*313T>C|||||| 22 30890223 . G A . . ANN=A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|5/12|c.520-26C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|9/12|c.520-26C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|8/12|c.520-26C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|4/12|c.520-26C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|6/12|c.520-26C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|7/12|c.520-26C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|5/12|c.520-26C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|9/12|c.520-26C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|8/12|c.520-26C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|4/12|c.520-26C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|6/12|c.520-26C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|7/12|c.520-26C>T||||||,A|downstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000610156|antisense||n.*876G>A|||||1468|,A|downstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000442126|antisense||n.*502G>A|||||1432|,A|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|6/11|c.520-26C>T||||||,A|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|6/11|n.*419-26C>T||||||,A|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|7/12|n.*287-26C>T||||||,A|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|6/11|c.358-26C>T||||||,A|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|7/12|c.475-26C>T||||||,A|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|6/11|c.520-26C>T|||||| 22 30890886 . G A . . ANN=A|synonymous_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|6/12|c.486C>T|p.His162His|570/2499|486/1221|162/406||,A|synonymous_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|6/12|c.324C>T|p.His108His|602/2575|324/1083|108/360||,A|synonymous_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|7/13|c.441C>T|p.His147His|635/2564|441/1176|147/391||,A|synonymous_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|6/12|c.486C>T|p.His162His|525/1603|486/1083|162/360||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|5/12|c.486C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|9/12|c.486C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|8/12|c.486C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|4/12|c.486C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|6/12|c.486C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|7/12|c.486C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|5/12|c.486C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|9/12|c.486C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|8/12|c.486C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|4/12|c.486C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|6/12|c.486C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|7/12|c.486C>T||||||,A|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|6/12|n.*385C>T|||||8807|,A|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|7/13|n.*253C>T|||||685|,A|downstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000610156|antisense||n.*876G>A|||||2131|,A|downstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000442126|antisense||n.*502G>A|||||2095|,A|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|6/12|n.*385C>T||||||,A|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|7/13|n.*253C>T|||||| 22 30890934 . G A . . ANN=A|synonymous_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|6/12|c.438C>T|p.Ile146Ile|522/2499|438/1221|146/406||,A|synonymous_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|6/12|c.276C>T|p.Ile92Ile|554/2575|276/1083|92/360||,A|synonymous_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|7/13|c.393C>T|p.Ile131Ile|587/2564|393/1176|131/391||,A|synonymous_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|6/12|c.438C>T|p.Ile146Ile|477/1603|438/1083|146/360||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|5/12|c.438C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|9/12|c.438C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|8/12|c.438C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|4/12|c.438C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|6/12|c.438C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|7/12|c.438C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|5/12|c.438C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|9/12|c.438C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|8/12|c.438C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|4/12|c.438C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|6/12|c.438C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|7/12|c.438C>T||||||,A|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|6/12|n.*337C>T|||||8759|,A|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|7/13|n.*205C>T|||||637|,A|downstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000610156|antisense||n.*876G>A|||||2179|,A|downstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000442126|antisense||n.*502G>A|||||2143|,A|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|6/12|n.*337C>T||||||,A|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|7/13|n.*205C>T|||||| 22 30891227 . C A . . ANN=A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|5/12|c.423+14G>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|9/12|c.423+14G>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|8/12|c.423+14G>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|4/12|c.423+14G>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|6/12|c.423+14G>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|7/12|c.423+14G>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|5/12|c.423+14G>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|9/12|c.423+14G>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|8/12|c.423+14G>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|4/12|c.423+14G>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|6/12|c.423+14G>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|7/12|c.423+14G>T||||||,A|downstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000610156|antisense||n.*876C>A|||||2472|,A|downstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000442126|antisense||n.*502C>A|||||2436|,A|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|5/11|c.423+14G>T||||||,A|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|5/11|n.*322+14G>T||||||,A|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|6/12|n.*190+14G>T||||||,A|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|5/11|c.261+14G>T||||||,A|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|6/12|c.378+14G>T||||||,A|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|5/11|c.423+14G>T|||||| 22 30891232 . G A . . ANN=A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|5/12|c.423+9C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|9/12|c.423+9C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|8/12|c.423+9C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|4/12|c.423+9C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|6/12|c.423+9C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|7/12|c.423+9C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|5/12|c.423+9C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|9/12|c.423+9C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|8/12|c.423+9C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|4/12|c.423+9C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|6/12|c.423+9C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|7/12|c.423+9C>T||||||,A|downstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000610156|antisense||n.*876G>A|||||2477|,A|downstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000442126|antisense||n.*502G>A|||||2441|,A|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|5/11|c.423+9C>T||||||,A|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|5/11|n.*322+9C>T||||||,A|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|6/12|n.*190+9C>T||||||,A|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|5/11|c.261+9C>T||||||,A|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|6/12|c.378+9C>T||||||,A|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|5/11|c.423+9C>T|||||| 22 30891250 . T C . . ANN=C|synonymous_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|5/12|c.414A>G|p.Gln138Gln|498/2499|414/1221|138/406||,C|synonymous_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|5/12|c.252A>G|p.Gln84Gln|530/2575|252/1083|84/360||,C|synonymous_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|6/13|c.369A>G|p.Gln123Gln|563/2564|369/1176|123/391||,C|synonymous_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|5/12|c.414A>G|p.Gln138Gln|453/1603|414/1083|138/360||,C|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|5/12|c.414A>G||||||,C|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|9/12|c.414A>G||||||,C|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|8/12|c.414A>G||||||,C|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|4/12|c.414A>G||||||,C|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|6/12|c.414A>G||||||,C|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|7/12|c.414A>G||||||,C|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|5/12|c.414A>G||||||,C|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|9/12|c.414A>G||||||,C|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|8/12|c.414A>G||||||,C|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|4/12|c.414A>G||||||,C|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|6/12|c.414A>G||||||,C|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|7/12|c.414A>G||||||,C|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|5/12|n.*313A>G|||||8443|,C|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|6/13|n.*181A>G|||||321|,C|downstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000610156|antisense||n.*876T>C|||||2495|,C|downstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000442126|antisense||n.*502T>C|||||2459|,C|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|5/12|n.*313A>G||||||,C|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|6/13|n.*181A>G|||||| 22 30891264 . C A . . ANN=A|stop_gained|HIGH|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|5/12|c.400G>T|p.Glu134*|484/2499|400/1221|134/406||,A|stop_gained|HIGH|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|5/12|c.238G>T|p.Glu80*|516/2575|238/1083|80/360||,A|stop_gained|HIGH|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|6/13|c.355G>T|p.Glu119*|549/2564|355/1176|119/391||,A|stop_gained|HIGH|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|5/12|c.400G>T|p.Glu134*|439/1603|400/1083|134/360||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|5/12|c.400G>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|9/12|c.400G>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|8/12|c.400G>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|4/12|c.400G>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|6/12|c.400G>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|7/12|c.400G>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|5/12|c.400G>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|9/12|c.400G>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|8/12|c.400G>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|4/12|c.400G>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|6/12|c.400G>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|7/12|c.400G>T||||||,A|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|5/12|n.*299G>T|||||8429|,A|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|6/13|n.*167G>T|||||307|,A|downstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000610156|antisense||n.*876C>A|||||2509|,A|downstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000442126|antisense||n.*502C>A|||||2473|,A|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|5/12|n.*299G>T||||||,A|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|6/13|n.*167G>T||||||;LOF=(SEC14L4|ENSG00000133488|6|0.67);NMD=(SEC14L4|ENSG00000133488|6|0.67) 22 30891294 . G C . . ANN=C|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|5/12|c.370C>G|p.Arg124Gly|454/2499|370/1221|124/406||,C|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|5/12|c.208C>G|p.Arg70Gly|486/2575|208/1083|70/360||,C|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|6/13|c.325C>G|p.Arg109Gly|519/2564|325/1176|109/391||,C|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|5/12|c.370C>G|p.Arg124Gly|409/1603|370/1083|124/360||,C|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|5/12|c.370C>G||||||,C|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|9/12|c.370C>G||||||,C|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|8/12|c.370C>G||||||,C|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|4/12|c.370C>G||||||,C|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|6/12|c.370C>G||||||,C|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|7/12|c.370C>G||||||,C|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|5/12|c.370C>G||||||,C|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|9/12|c.370C>G||||||,C|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|8/12|c.370C>G||||||,C|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|4/12|c.370C>G||||||,C|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|6/12|c.370C>G||||||,C|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|7/12|c.370C>G||||||,C|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|5/12|n.*269C>G|||||8399|,C|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|6/13|n.*137C>G|||||277|,C|downstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000610156|antisense||n.*876G>C|||||2539|,C|downstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000442126|antisense||n.*502G>C|||||2503|,C|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|5/12|n.*269C>G||||||,C|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|6/13|n.*137C>G|||||| 22 30891300 . G A . . ANN=A|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|5/12|c.364C>T|p.Arg122Trp|448/2499|364/1221|122/406||,A|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|5/12|c.202C>T|p.Arg68Trp|480/2575|202/1083|68/360||,A|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|6/13|c.319C>T|p.Arg107Trp|513/2564|319/1176|107/391||,A|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|5/12|c.364C>T|p.Arg122Trp|403/1603|364/1083|122/360||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|5/12|c.364C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|9/12|c.364C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|8/12|c.364C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|4/12|c.364C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|6/12|c.364C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|7/12|c.364C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|5/12|c.364C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|9/12|c.364C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|8/12|c.364C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|4/12|c.364C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|6/12|c.364C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|7/12|c.364C>T||||||,A|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|5/12|n.*263C>T|||||8393|,A|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|6/13|n.*131C>T|||||271|,A|downstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000610156|antisense||n.*876G>A|||||2545|,A|downstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000442126|antisense||n.*502G>A|||||2509|,A|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|5/12|n.*263C>T||||||,A|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|6/13|n.*131C>T|||||| 22 30891400 . A G . . ANN=G|synonymous_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|5/12|c.264T>C|p.Leu88Leu|348/2499|264/1221|88/406||,G|synonymous_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|5/12|c.102T>C|p.Leu34Leu|380/2575|102/1083|34/360||,G|synonymous_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|6/13|c.219T>C|p.Leu73Leu|413/2564|219/1176|73/391||,G|synonymous_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|5/12|c.264T>C|p.Leu88Leu|303/1603|264/1083|88/360||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|5/12|c.264T>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|9/12|c.264T>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|8/12|c.264T>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|4/12|c.264T>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|6/12|c.264T>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|7/12|c.264T>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|5/12|c.264T>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|9/12|c.264T>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|8/12|c.264T>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|4/12|c.264T>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|6/12|c.264T>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|7/12|c.264T>C||||||,G|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|5/12|n.*163T>C|||||8293|,G|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|6/13|n.*31T>C|||||171|,G|downstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000610156|antisense||n.*876A>G|||||2645|,G|downstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000442126|antisense||n.*502A>G|||||2609|,G|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|5/12|n.*163T>C||||||,G|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|6/13|n.*31T>C|||||| 22 30891412 . G A . . ANN=A|synonymous_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|5/12|c.252C>T|p.Asp84Asp|336/2499|252/1221|84/406||,A|synonymous_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|5/12|c.90C>T|p.Asp30Asp|368/2575|90/1083|30/360||,A|synonymous_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|6/13|c.207C>T|p.Asp69Asp|401/2564|207/1176|69/391||,A|synonymous_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|5/12|c.252C>T|p.Asp84Asp|291/1603|252/1083|84/360||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|5/12|c.252C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|9/12|c.252C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|8/12|c.252C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|4/12|c.252C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|6/12|c.252C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|7/12|c.252C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|5/12|c.252C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|9/12|c.252C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|8/12|c.252C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|4/12|c.252C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|6/12|c.252C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|7/12|c.252C>T||||||,A|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|5/12|n.*151C>T|||||8281|,A|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|6/13|n.*19C>T|||||159|,A|downstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000610156|antisense||n.*876G>A|||||2657|,A|downstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000442126|antisense||n.*502G>A|||||2621|,A|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|5/12|n.*151C>T||||||,A|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|6/13|n.*19C>T|||||| 22 30891459 . T A . . ANN=A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|5/12|c.235-30A>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|9/12|c.235-30A>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|8/12|c.235-30A>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|4/12|c.235-30A>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|6/12|c.235-30A>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|7/12|c.235-30A>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|5/12|c.235-30A>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|9/12|c.235-30A>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|8/12|c.235-30A>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|4/12|c.235-30A>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|6/12|c.235-30A>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|7/12|c.235-30A>T||||||,A|downstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000610156|antisense||n.*876T>A|||||2704|,A|downstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000442126|antisense||n.*502T>A|||||2668|,A|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|4/11|c.235-30A>T||||||,A|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|4/11|n.*134-30A>T||||||,A|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|5/12|n.*2-30A>T||||||,A|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|4/11|c.73-30A>T||||||,A|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|5/12|c.190-30A>T||||||,A|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|4/11|c.235-30A>T|||||| 22 30891560 . C T . . ANN=T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|5/12|c.234+10G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|9/12|c.234+10G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|8/12|c.234+10G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|4/12|c.234+10G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|6/12|c.234+10G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|7/12|c.234+10G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|5/12|c.234+10G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|9/12|c.234+10G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|8/12|c.234+10G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|4/12|c.234+10G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|6/12|c.234+10G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|7/12|c.234+10G>A||||||,T|downstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000610156|antisense||n.*876C>T|||||2805|,T|downstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000442126|antisense||n.*502C>T|||||2769|,T|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|4/11|c.234+10G>A||||||,T|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|4/11|n.*133+10G>A||||||,T|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|5/12|n.*1+10G>A||||||,T|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|4/11|c.72+10G>A||||||,T|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|5/12|c.189+10G>A||||||,T|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|4/11|c.234+10G>A|||||| 22 30891561 . G A . . ANN=A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|5/12|c.234+9C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|9/12|c.234+9C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|8/12|c.234+9C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|4/12|c.234+9C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|6/12|c.234+9C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|7/12|c.234+9C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|5/12|c.234+9C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|9/12|c.234+9C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|8/12|c.234+9C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|4/12|c.234+9C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|6/12|c.234+9C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|7/12|c.234+9C>T||||||,A|downstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000610156|antisense||n.*876G>A|||||2806|,A|downstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000442126|antisense||n.*502G>A|||||2770|,A|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|4/11|c.234+9C>T||||||,A|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|4/11|n.*133+9C>T||||||,A|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|5/12|n.*1+9C>T||||||,A|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|4/11|c.72+9C>T||||||,A|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|5/12|c.189+9C>T||||||,A|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|4/11|c.234+9C>T|||||| 22 30891616 . C T . . ANN=T|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|4/12|c.188G>A|p.Arg63Gln|272/2499|188/1221|63/406||,T|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|4/12|c.26G>A|p.Arg9Gln|304/2575|26/1083|9/360||,T|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|5/13|c.143G>A|p.Arg48Gln|337/2564|143/1176|48/391||,T|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|4/12|c.188G>A|p.Arg63Gln|227/1603|188/1083|63/360||,T|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|4/12|n.*87G>A|||||8077|,T|downstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000610156|antisense||n.*876C>T|||||2861|,T|downstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000442126|antisense||n.*502C>T|||||2825|,T|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|4/12|n.*87G>A||||||,T|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|5/13|n.237G>A|||||| 22 30891649 . G A . . ANN=A|downstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000610156|antisense||n.*876G>A|||||2894|,A|downstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000442126|antisense||n.*502G>A|||||2858|,A|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|3/11|c.175-20C>T||||||,A|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|3/11|n.*74-20C>T||||||,A|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|4/12|n.224-20C>T||||||,A|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|3/11|c.13-20C>T||||||,A|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|4/12|c.130-20C>T||||||,A|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|3/11|c.175-20C>T|||||| 22 30891871 . C T . . ANN=T|downstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000610156|antisense||n.*876C>T|||||3116|,T|downstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000442126|antisense||n.*502C>T|||||3080|,T|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|3/11|c.174+44G>A||||||,T|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|3/11|n.*73+44G>A||||||,T|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|3/12|n.174+44G>A||||||,T|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|3/11|c.12+44G>A||||||,T|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|3/12|c.80+44G>A||||||,T|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|3/11|c.174+44G>A|||||| 22 30891942 . C A . . ANN=A|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|3/13|c.53G>T|p.Cys18Phe|247/2564|53/1176|18/391||,A|synonymous_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|3/12|c.147G>T|p.Leu49Leu|231/2499|147/1221|49/406||,A|synonymous_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|3/12|c.147G>T|p.Leu49Leu|186/1603|147/1083|49/360||,A|5_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|3/12|c.-16G>T|||||16|,A|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|3/12|n.*46G>T|||||7751|,A|downstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000610156|antisense||n.*876C>A|||||3187|,A|downstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000442126|antisense||n.*502C>A|||||3151|,A|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|3/12|n.*46G>T||||||,A|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|3/13|n.147G>T|||||| 22 30891967 . AGAG A . . ANN=|downstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000610156|antisense||n.*876_*876delGAG|||||3213|,|downstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000442126|antisense||n.*502_*502delGAG|||||3177|,|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|2/11|c.131-12_131-10delCTC||||||,|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|2/11|n.*30-12_*30-10delCTC||||||,|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|2/12|n.131-12_131-10delCTC||||||,|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|2/11|c.-32-12_-32-10delCTC||||||,|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|2/12|c.37-12_37-10delCTC||||||,|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|2/11|c.131-12_131-10delCTC|||||| 22 30899617 . C T . . ANN=T|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|2/11|c.130+47G>A||||||,T|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|2/11|n.*29+47G>A||||||,T|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|2/12|n.130+47G>A||||||,T|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|2/11|c.-33+47G>A||||||,T|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|2/12|c.36+47G>A||||||,T|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|2/11|c.130+47G>A|||||| 22 30899709 . T G . . ANN=G|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|2/12|c.85A>C|p.Ile29Leu|169/2499|85/1221|29/406||,G|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|2/12|c.85A>C|p.Ile29Leu|124/1603|85/1083|29/360||,G|5_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|2/12|c.-78A>C|||||7783|,G|5_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|2/13|c.-10A>C|||||10|,G|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|2/12|n.101A>C||||||,G|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|2/13|n.85A>C|||||| 22 30899741 . T A . . ANN=A|splice_acceptor_variant&intron_variant|HIGH|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|1/11|c.55-2A>T||||||,A|splice_acceptor_variant&intron_variant|HIGH|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|1/12|n.55-2A>T||||||,A|splice_acceptor_variant&intron_variant|HIGH|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|1/12|c.-40-2A>T||||||,A|splice_acceptor_variant&intron_variant|HIGH|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|1/11|c.55-2A>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|2/12|c.-110A>T||||||,A|5_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|2/12|c.-110A>T|||||7815|,A|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|2/12|n.69A>T||||||;LOF=(SEC14L4|ENSG00000133488|6|0.50) 22 30899745 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|1/11|c.55-6G>A||||||,T|splice_region_variant&intron_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|1/12|n.55-6G>A||||||,T|splice_region_variant&intron_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|1/12|c.-40-6G>A||||||,T|splice_region_variant&intron_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|1/11|c.55-6G>A||||||,T|5_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|2/12|c.-114G>A|||||7819|,T|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|2/12|n.65G>A|||||| 22 30899785 . G A . . ANN=A|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|1/11|c.55-46C>T||||||,A|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|1/11|n.55-30C>T||||||,A|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|1/12|n.55-46C>T||||||,A|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|1/11|c.-124-30C>T||||||,A|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|1/12|c.-40-46C>T||||||,A|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|1/11|c.55-46C>T|||||| 22 30901528 . C T . . ANN=T|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|1/11|c.54+17G>A||||||,T|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|1/11|n.54+17G>A||||||,T|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|1/12|n.54+17G>A||||||,T|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|1/11|c.-125+17G>A||||||,T|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|1/12|c.-41+17G>A||||||,T|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|1/11|c.54+17G>A|||||| 22 30901592 . T C . . ANN=C|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|1/12|c.7A>G|p.Ser3Gly|91/2499|7/1221|3/406||,C|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|1/12|c.7A>G|p.Ser3Gly|46/1603|7/1083|3/360||,C|5_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|1/12|c.-172A>G|||||9666|,C|5_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|1/13|c.-88A>G|||||1893|,C|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|1/12|n.7A>G||||||,C|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|1/13|n.7A>G|||||| 22 30901636 . C A . . ANN=A|5_prime_UTR_premature_start_codon_gain_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|1/12|c.-38G>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|1/12|n.-38G>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|1/13|n.-38G>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|1/12|c.-216G>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|1/13|c.-132G>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|1/12|c.-38G>T||||||,A|5_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|1/12|c.-38G>T|||||38|,A|5_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|1/12|n.-38G>T|||||38|,A|5_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|1/13|n.-38G>T|||||38|,A|5_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|1/12|c.-216G>T|||||9710|,A|5_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|1/13|c.-132G>T|||||1937|,A|5_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|1/12|c.-38G>T|||||38|,A|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|1/12|n.-38G>T||||||,A|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|1/13|n.-38G>T|||||| 22 30951199 . T C . . ANN=C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000338911|protein_coding|3/3|c.1013A>G|p.Asn338Ser|1153/1728|1013/1272|338/423||,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000406955|protein_coding|3/3|c.1013A>G|p.Asn338Ser|1058/1635|1013/1272|338/423||,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000402321|protein_coding|3/3|c.1013A>G|p.Asn338Ser|1331/1908|1013/1272|338/423||,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000402369|protein_coding|3/3|c.1013A>G|p.Asn338Ser|1135/1712|1013/1272|338/423||,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000401975|protein_coding|4/4|c.1013A>G|p.Asn338Ser|1216/1791|1013/1272|338/423||,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000406361|protein_coding|4/4|c.1013A>G|p.Asn338Ser|1254/1819|1013/1272|338/423||,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000443111|protein_coding|3/3|c.1013A>G|p.Asn338Ser|1166/1425|1013/1272|338/423||,C|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|3/3|c.1013A>G||||||,C|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|2/3|c.1013A>G||||||,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000441967|protein_coding||c.*894A>G|||||176|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000431313|protein_coding||c.*851A>G|||||220|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000452827|protein_coding||c.*882A>G|||||286|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000437282|protein_coding||c.*755A>G|||||415|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000416358|protein_coding||c.*582A>G|||||502|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000427899|protein_coding||c.*533A>G|||||525|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000423299|protein_coding||c.*656A>G|||||566|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000443136|protein_coding||c.*584A>G|||||582|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000423371|protein_coding||c.*639A>G|||||678|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000428682|protein_coding||c.*553A>G|||||705|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000453479|protein_coding||c.*639A>G|||||712|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000426220|protein_coding||c.*563A>G|||||717|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000447224|protein_coding||c.*567A>G|||||726|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000411821|protein_coding||c.*572A>G|||||758|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000445645|protein_coding||c.*567A>G|||||786|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000448604|protein_coding||c.*575A>G|||||798|WARNING_TRANSCRIPT_INCOMPLETE 22 30951208 . C T . . ANN=T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000338911|protein_coding|3/3|c.1004G>A|p.Arg335His|1144/1728|1004/1272|335/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000406955|protein_coding|3/3|c.1004G>A|p.Arg335His|1049/1635|1004/1272|335/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000402321|protein_coding|3/3|c.1004G>A|p.Arg335His|1322/1908|1004/1272|335/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000402369|protein_coding|3/3|c.1004G>A|p.Arg335His|1126/1712|1004/1272|335/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000401975|protein_coding|4/4|c.1004G>A|p.Arg335His|1207/1791|1004/1272|335/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000406361|protein_coding|4/4|c.1004G>A|p.Arg335His|1245/1819|1004/1272|335/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000443111|protein_coding|3/3|c.1004G>A|p.Arg335His|1157/1425|1004/1272|335/423||,T|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|3/3|c.1004G>A||||||,T|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|2/3|c.1004G>A||||||,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000441967|protein_coding||c.*894G>A|||||167|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000431313|protein_coding||c.*851G>A|||||211|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000452827|protein_coding||c.*882G>A|||||277|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000437282|protein_coding||c.*755G>A|||||406|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000416358|protein_coding||c.*582G>A|||||493|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000427899|protein_coding||c.*533G>A|||||516|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000423299|protein_coding||c.*656G>A|||||557|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000443136|protein_coding||c.*584G>A|||||573|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000423371|protein_coding||c.*639G>A|||||669|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000428682|protein_coding||c.*553G>A|||||696|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000453479|protein_coding||c.*639G>A|||||703|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000426220|protein_coding||c.*563G>A|||||708|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000447224|protein_coding||c.*567G>A|||||717|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000411821|protein_coding||c.*572G>A|||||749|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000445645|protein_coding||c.*567G>A|||||777|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000448604|protein_coding||c.*575G>A|||||789|WARNING_TRANSCRIPT_INCOMPLETE 22 30951226 . C T . . ANN=T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000338911|protein_coding|3/3|c.986G>A|p.Arg329His|1126/1728|986/1272|329/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000406955|protein_coding|3/3|c.986G>A|p.Arg329His|1031/1635|986/1272|329/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000402321|protein_coding|3/3|c.986G>A|p.Arg329His|1304/1908|986/1272|329/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000402369|protein_coding|3/3|c.986G>A|p.Arg329His|1108/1712|986/1272|329/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000401975|protein_coding|4/4|c.986G>A|p.Arg329His|1189/1791|986/1272|329/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000406361|protein_coding|4/4|c.986G>A|p.Arg329His|1227/1819|986/1272|329/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000443111|protein_coding|3/3|c.986G>A|p.Arg329His|1139/1425|986/1272|329/423||,T|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|3/3|c.986G>A||||||,T|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|2/3|c.986G>A||||||,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000441967|protein_coding||c.*894G>A|||||149|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000431313|protein_coding||c.*851G>A|||||193|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000452827|protein_coding||c.*882G>A|||||259|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000437282|protein_coding||c.*755G>A|||||388|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000416358|protein_coding||c.*582G>A|||||475|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000427899|protein_coding||c.*533G>A|||||498|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000423299|protein_coding||c.*656G>A|||||539|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000443136|protein_coding||c.*584G>A|||||555|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000423371|protein_coding||c.*639G>A|||||651|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000428682|protein_coding||c.*553G>A|||||678|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000453479|protein_coding||c.*639G>A|||||685|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000426220|protein_coding||c.*563G>A|||||690|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000447224|protein_coding||c.*567G>A|||||699|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000411821|protein_coding||c.*572G>A|||||731|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000445645|protein_coding||c.*567G>A|||||759|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000448604|protein_coding||c.*575G>A|||||771|WARNING_TRANSCRIPT_INCOMPLETE 22 30951404 . G A . . ANN=A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000338911|protein_coding|3/3|c.808C>T|p.Leu270Leu|948/1728|808/1272|270/423||,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000406955|protein_coding|3/3|c.808C>T|p.Leu270Leu|853/1635|808/1272|270/423||,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000402321|protein_coding|3/3|c.808C>T|p.Leu270Leu|1126/1908|808/1272|270/423||,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000402369|protein_coding|3/3|c.808C>T|p.Leu270Leu|930/1712|808/1272|270/423||,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000401975|protein_coding|4/4|c.808C>T|p.Leu270Leu|1011/1791|808/1272|270/423||,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000406361|protein_coding|4/4|c.808C>T|p.Leu270Leu|1049/1819|808/1272|270/423||,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000443111|protein_coding|3/3|c.808C>T|p.Leu270Leu|961/1425|808/1272|270/423||,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000441967|protein_coding|3/3|c.808C>T|p.Leu270Leu|865/894|808/837|270/278||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|3/3|c.808C>T||||||,A|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|2/3|c.808C>T||||||,A|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000431313|protein_coding||c.*851C>T|||||15|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000452827|protein_coding||c.*882C>T|||||81|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000437282|protein_coding||c.*755C>T|||||210|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000416358|protein_coding||c.*582C>T|||||297|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000427899|protein_coding||c.*533C>T|||||320|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000423299|protein_coding||c.*656C>T|||||361|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000443136|protein_coding||c.*584C>T|||||377|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000423371|protein_coding||c.*639C>T|||||473|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000428682|protein_coding||c.*553C>T|||||500|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000453479|protein_coding||c.*639C>T|||||507|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000426220|protein_coding||c.*563C>T|||||512|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000447224|protein_coding||c.*567C>T|||||521|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000411821|protein_coding||c.*572C>T|||||553|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000445645|protein_coding||c.*567C>T|||||581|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000448604|protein_coding||c.*575C>T|||||593|WARNING_TRANSCRIPT_INCOMPLETE 22 30951450 . G A . . ANN=A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000338911|protein_coding|3/3|c.762C>T|p.Tyr254Tyr|902/1728|762/1272|254/423||,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000406955|protein_coding|3/3|c.762C>T|p.Tyr254Tyr|807/1635|762/1272|254/423||,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000402321|protein_coding|3/3|c.762C>T|p.Tyr254Tyr|1080/1908|762/1272|254/423||,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000402369|protein_coding|3/3|c.762C>T|p.Tyr254Tyr|884/1712|762/1272|254/423||,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000401975|protein_coding|4/4|c.762C>T|p.Tyr254Tyr|965/1791|762/1272|254/423||,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000406361|protein_coding|4/4|c.762C>T|p.Tyr254Tyr|1003/1819|762/1272|254/423||,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000443111|protein_coding|3/3|c.762C>T|p.Tyr254Tyr|915/1425|762/1272|254/423||,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000441967|protein_coding|3/3|c.762C>T|p.Tyr254Tyr|819/894|762/837|254/278||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000431313|protein_coding|3/3|c.765C>T|p.Tyr255Tyr|820/851|765/796|255/264||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|3/3|c.762C>T||||||,A|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|2/3|c.762C>T||||||,A|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000452827|protein_coding||c.*882C>T|||||35|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000437282|protein_coding||c.*755C>T|||||164|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000416358|protein_coding||c.*582C>T|||||251|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000427899|protein_coding||c.*533C>T|||||274|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000423299|protein_coding||c.*656C>T|||||315|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000443136|protein_coding||c.*584C>T|||||331|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000423371|protein_coding||c.*639C>T|||||427|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000428682|protein_coding||c.*553C>T|||||454|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000453479|protein_coding||c.*639C>T|||||461|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000426220|protein_coding||c.*563C>T|||||466|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000447224|protein_coding||c.*567C>T|||||475|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000411821|protein_coding||c.*572C>T|||||507|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000445645|protein_coding||c.*567C>T|||||535|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000448604|protein_coding||c.*575C>T|||||547|WARNING_TRANSCRIPT_INCOMPLETE 22 30951482 . G C . . ANN=C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000338911|protein_coding|3/3|c.730C>G|p.Arg244Gly|870/1728|730/1272|244/423||,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000406955|protein_coding|3/3|c.730C>G|p.Arg244Gly|775/1635|730/1272|244/423||,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000402321|protein_coding|3/3|c.730C>G|p.Arg244Gly|1048/1908|730/1272|244/423||,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000402369|protein_coding|3/3|c.730C>G|p.Arg244Gly|852/1712|730/1272|244/423||,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000401975|protein_coding|4/4|c.730C>G|p.Arg244Gly|933/1791|730/1272|244/423||,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000406361|protein_coding|4/4|c.730C>G|p.Arg244Gly|971/1819|730/1272|244/423||,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000443111|protein_coding|3/3|c.730C>G|p.Arg244Gly|883/1425|730/1272|244/423||,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000441967|protein_coding|3/3|c.730C>G|p.Arg244Gly|787/894|730/837|244/278||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000431313|protein_coding|3/3|c.733C>G|p.Arg245Gly|788/851|733/796|245/264||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|3/3|c.730C>G||||||,C|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|2/3|c.730C>G||||||,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000452827|protein_coding||c.*882C>G|||||3|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000437282|protein_coding||c.*755C>G|||||132|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000416358|protein_coding||c.*582C>G|||||219|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000427899|protein_coding||c.*533C>G|||||242|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000423299|protein_coding||c.*656C>G|||||283|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000443136|protein_coding||c.*584C>G|||||299|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000423371|protein_coding||c.*639C>G|||||395|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000428682|protein_coding||c.*553C>G|||||422|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000453479|protein_coding||c.*639C>G|||||429|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000426220|protein_coding||c.*563C>G|||||434|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000447224|protein_coding||c.*567C>G|||||443|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000411821|protein_coding||c.*572C>G|||||475|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000445645|protein_coding||c.*567C>G|||||503|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000448604|protein_coding||c.*575C>G|||||515|WARNING_TRANSCRIPT_INCOMPLETE 22 30951501 . C T . . ANN=T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000338911|protein_coding|3/3|c.711G>A|p.Glu237Glu|851/1728|711/1272|237/423||,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000406955|protein_coding|3/3|c.711G>A|p.Glu237Glu|756/1635|711/1272|237/423||,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000402321|protein_coding|3/3|c.711G>A|p.Glu237Glu|1029/1908|711/1272|237/423||,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000402369|protein_coding|3/3|c.711G>A|p.Glu237Glu|833/1712|711/1272|237/423||,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000401975|protein_coding|4/4|c.711G>A|p.Glu237Glu|914/1791|711/1272|237/423||,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000406361|protein_coding|4/4|c.711G>A|p.Glu237Glu|952/1819|711/1272|237/423||,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000443111|protein_coding|3/3|c.711G>A|p.Glu237Glu|864/1425|711/1272|237/423||,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000441967|protein_coding|3/3|c.711G>A|p.Glu237Glu|768/894|711/837|237/278||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000431313|protein_coding|3/3|c.714G>A|p.Glu238Glu|769/851|714/796|238/264||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000452827|protein_coding|4/4|c.711G>A|p.Glu237Glu|866/882|711/727|237/241||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|3/3|c.711G>A||||||,T|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|2/3|c.711G>A||||||,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000437282|protein_coding||c.*755G>A|||||113|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000416358|protein_coding||c.*582G>A|||||200|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000427899|protein_coding||c.*533G>A|||||223|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000423299|protein_coding||c.*656G>A|||||264|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000443136|protein_coding||c.*584G>A|||||280|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000423371|protein_coding||c.*639G>A|||||376|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000428682|protein_coding||c.*553G>A|||||403|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000453479|protein_coding||c.*639G>A|||||410|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000426220|protein_coding||c.*563G>A|||||415|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000447224|protein_coding||c.*567G>A|||||424|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000411821|protein_coding||c.*572G>A|||||456|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000445645|protein_coding||c.*567G>A|||||484|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000448604|protein_coding||c.*575G>A|||||496|WARNING_TRANSCRIPT_INCOMPLETE 22 30951651 . G C . . ANN=C|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000338911|protein_coding|3/3|c.561C>G|p.Leu187Leu|701/1728|561/1272|187/423||,C|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000406955|protein_coding|3/3|c.561C>G|p.Leu187Leu|606/1635|561/1272|187/423||,C|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000402321|protein_coding|3/3|c.561C>G|p.Leu187Leu|879/1908|561/1272|187/423||,C|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000402369|protein_coding|3/3|c.561C>G|p.Leu187Leu|683/1712|561/1272|187/423||,C|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000401975|protein_coding|4/4|c.561C>G|p.Leu187Leu|764/1791|561/1272|187/423||,C|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000406361|protein_coding|4/4|c.561C>G|p.Leu187Leu|802/1819|561/1272|187/423||,C|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000443111|protein_coding|3/3|c.561C>G|p.Leu187Leu|714/1425|561/1272|187/423||,C|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000441967|protein_coding|3/3|c.561C>G|p.Leu187Leu|618/894|561/837|187/278||WARNING_TRANSCRIPT_NO_STOP_CODON,C|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000431313|protein_coding|3/3|c.564C>G|p.Leu188Leu|619/851|564/796|188/264||WARNING_TRANSCRIPT_INCOMPLETE,C|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000452827|protein_coding|4/4|c.561C>G|p.Leu187Leu|716/882|561/727|187/241||WARNING_TRANSCRIPT_INCOMPLETE,C|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000437282|protein_coding|4/4|c.561C>G|p.Leu187Leu|718/755|561/598|187/198||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|3/3|c.561C>G||||||,C|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|2/3|c.561C>G||||||,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000416358|protein_coding||c.*582C>G|||||50|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000427899|protein_coding||c.*533C>G|||||73|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000423299|protein_coding||c.*656C>G|||||114|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000443136|protein_coding||c.*584C>G|||||130|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000423371|protein_coding||c.*639C>G|||||226|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000428682|protein_coding||c.*553C>G|||||253|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000453479|protein_coding||c.*639C>G|||||260|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000426220|protein_coding||c.*563C>G|||||265|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000447224|protein_coding||c.*567C>G|||||274|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000411821|protein_coding||c.*572C>G|||||306|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000445645|protein_coding||c.*567C>G|||||334|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000448604|protein_coding||c.*575C>G|||||346|WARNING_TRANSCRIPT_INCOMPLETE 22 30951726 . C T . . ANN=T|splice_region_variant&synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000427899|protein_coding|3/3|c.489G>A|p.Val163Val|531/533|489/491|163/162||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000338911|protein_coding|3/3|c.486G>A|p.Val162Val|626/1728|486/1272|162/423||,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000406955|protein_coding|3/3|c.486G>A|p.Val162Val|531/1635|486/1272|162/423||,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000402321|protein_coding|3/3|c.486G>A|p.Val162Val|804/1908|486/1272|162/423||,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000402369|protein_coding|3/3|c.486G>A|p.Val162Val|608/1712|486/1272|162/423||,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000401975|protein_coding|4/4|c.486G>A|p.Val162Val|689/1791|486/1272|162/423||,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000406361|protein_coding|4/4|c.486G>A|p.Val162Val|727/1819|486/1272|162/423||,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000443111|protein_coding|3/3|c.486G>A|p.Val162Val|639/1425|486/1272|162/423||,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000441967|protein_coding|3/3|c.486G>A|p.Val162Val|543/894|486/837|162/278||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000431313|protein_coding|3/3|c.489G>A|p.Val163Val|544/851|489/796|163/264||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000452827|protein_coding|4/4|c.486G>A|p.Val162Val|641/882|486/727|162/241||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000437282|protein_coding|4/4|c.486G>A|p.Val162Val|643/755|486/598|162/198||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000416358|protein_coding|3/3|c.486G>A|p.Val162Val|557/582|486/511|162/169||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|3/3|c.486G>A||||||,T|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|2/3|c.486G>A||||||,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000423299|protein_coding||c.*656G>A|||||39|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000443136|protein_coding||c.*584G>A|||||55|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000423371|protein_coding||c.*639G>A|||||151|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000428682|protein_coding||c.*553G>A|||||178|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000453479|protein_coding||c.*639G>A|||||185|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000426220|protein_coding||c.*563G>A|||||190|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000447224|protein_coding||c.*567G>A|||||199|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000411821|protein_coding||c.*572G>A|||||231|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000445645|protein_coding||c.*567G>A|||||259|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000448604|protein_coding||c.*575G>A|||||271|WARNING_TRANSCRIPT_INCOMPLETE 22 30951728 . C T . . ANN=T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000338911|protein_coding|3/3|c.484G>A|p.Val162Met|624/1728|484/1272|162/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000406955|protein_coding|3/3|c.484G>A|p.Val162Met|529/1635|484/1272|162/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000402321|protein_coding|3/3|c.484G>A|p.Val162Met|802/1908|484/1272|162/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000402369|protein_coding|3/3|c.484G>A|p.Val162Met|606/1712|484/1272|162/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000401975|protein_coding|4/4|c.484G>A|p.Val162Met|687/1791|484/1272|162/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000406361|protein_coding|4/4|c.484G>A|p.Val162Met|725/1819|484/1272|162/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000443111|protein_coding|3/3|c.484G>A|p.Val162Met|637/1425|484/1272|162/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000441967|protein_coding|3/3|c.484G>A|p.Val162Met|541/894|484/837|162/278||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000431313|protein_coding|3/3|c.487G>A|p.Val163Met|542/851|487/796|163/264||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000452827|protein_coding|4/4|c.484G>A|p.Val162Met|639/882|484/727|162/241||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000437282|protein_coding|4/4|c.484G>A|p.Val162Met|641/755|484/598|162/198||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000416358|protein_coding|3/3|c.484G>A|p.Val162Met|555/582|484/511|162/169||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000427899|protein_coding|3/3|c.487G>A|p.Val163Met|529/533|487/491|163/162||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|3/3|c.484G>A||||||,T|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|2/3|c.484G>A||||||,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000423299|protein_coding||c.*656G>A|||||37|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000443136|protein_coding||c.*584G>A|||||53|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000423371|protein_coding||c.*639G>A|||||149|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000428682|protein_coding||c.*553G>A|||||176|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000453479|protein_coding||c.*639G>A|||||183|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000426220|protein_coding||c.*563G>A|||||188|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000447224|protein_coding||c.*567G>A|||||197|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000411821|protein_coding||c.*572G>A|||||229|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000445645|protein_coding||c.*567G>A|||||257|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000448604|protein_coding||c.*575G>A|||||269|WARNING_TRANSCRIPT_INCOMPLETE 22 30951813 . G C . . ANN=C|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000338911|protein_coding|3/3|c.399C>G|p.Ala133Ala|539/1728|399/1272|133/423||,C|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000406955|protein_coding|3/3|c.399C>G|p.Ala133Ala|444/1635|399/1272|133/423||,C|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000402321|protein_coding|3/3|c.399C>G|p.Ala133Ala|717/1908|399/1272|133/423||,C|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000402369|protein_coding|3/3|c.399C>G|p.Ala133Ala|521/1712|399/1272|133/423||,C|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000401975|protein_coding|4/4|c.399C>G|p.Ala133Ala|602/1791|399/1272|133/423||,C|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000406361|protein_coding|4/4|c.399C>G|p.Ala133Ala|640/1819|399/1272|133/423||,C|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000443111|protein_coding|3/3|c.399C>G|p.Ala133Ala|552/1425|399/1272|133/423||,C|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000441967|protein_coding|3/3|c.399C>G|p.Ala133Ala|456/894|399/837|133/278||WARNING_TRANSCRIPT_NO_STOP_CODON,C|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000431313|protein_coding|3/3|c.402C>G|p.Ala134Ala|457/851|402/796|134/264||WARNING_TRANSCRIPT_INCOMPLETE,C|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000452827|protein_coding|4/4|c.399C>G|p.Ala133Ala|554/882|399/727|133/241||WARNING_TRANSCRIPT_INCOMPLETE,C|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000437282|protein_coding|4/4|c.399C>G|p.Ala133Ala|556/755|399/598|133/198||WARNING_TRANSCRIPT_INCOMPLETE,C|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000416358|protein_coding|3/3|c.399C>G|p.Ala133Ala|470/582|399/511|133/169||WARNING_TRANSCRIPT_INCOMPLETE,C|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000427899|protein_coding|3/3|c.402C>G|p.Ala134Ala|444/533|402/491|134/162||WARNING_TRANSCRIPT_INCOMPLETE,C|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000423299|protein_coding|4/4|c.399C>G|p.Ala133Ala|608/656|399/447|133/148||WARNING_TRANSCRIPT_NO_STOP_CODON,C|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000443136|protein_coding|3/3|c.399C>G|p.Ala133Ala|552/584|399/431|133/142||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|3/3|c.399C>G||||||,C|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|2/3|c.399C>G||||||,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000423371|protein_coding||c.*639C>G|||||64|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000428682|protein_coding||c.*553C>G|||||91|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000453479|protein_coding||c.*639C>G|||||98|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000426220|protein_coding||c.*563C>G|||||103|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000447224|protein_coding||c.*567C>G|||||112|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000411821|protein_coding||c.*572C>G|||||144|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000445645|protein_coding||c.*567C>G|||||172|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000448604|protein_coding||c.*575C>G|||||184|WARNING_TRANSCRIPT_INCOMPLETE 22 30951848 . C T . . ANN=T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000338911|protein_coding|3/3|c.364G>A|p.Ala122Thr|504/1728|364/1272|122/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000406955|protein_coding|3/3|c.364G>A|p.Ala122Thr|409/1635|364/1272|122/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000402321|protein_coding|3/3|c.364G>A|p.Ala122Thr|682/1908|364/1272|122/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000402369|protein_coding|3/3|c.364G>A|p.Ala122Thr|486/1712|364/1272|122/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000401975|protein_coding|4/4|c.364G>A|p.Ala122Thr|567/1791|364/1272|122/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000406361|protein_coding|4/4|c.364G>A|p.Ala122Thr|605/1819|364/1272|122/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000443111|protein_coding|3/3|c.364G>A|p.Ala122Thr|517/1425|364/1272|122/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000441967|protein_coding|3/3|c.364G>A|p.Ala122Thr|421/894|364/837|122/278||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000431313|protein_coding|3/3|c.367G>A|p.Ala123Thr|422/851|367/796|123/264||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000452827|protein_coding|4/4|c.364G>A|p.Ala122Thr|519/882|364/727|122/241||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000437282|protein_coding|4/4|c.364G>A|p.Ala122Thr|521/755|364/598|122/198||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000416358|protein_coding|3/3|c.364G>A|p.Ala122Thr|435/582|364/511|122/169||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000427899|protein_coding|3/3|c.367G>A|p.Ala123Thr|409/533|367/491|123/162||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000423299|protein_coding|4/4|c.364G>A|p.Ala122Thr|573/656|364/447|122/148||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000443136|protein_coding|3/3|c.364G>A|p.Ala122Thr|517/584|364/431|122/142||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|3/3|c.364G>A||||||,T|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|2/3|c.364G>A||||||,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000423371|protein_coding||c.*639G>A|||||29|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000428682|protein_coding||c.*553G>A|||||56|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000453479|protein_coding||c.*639G>A|||||63|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000426220|protein_coding||c.*563G>A|||||68|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000447224|protein_coding||c.*567G>A|||||77|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000411821|protein_coding||c.*572G>A|||||109|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000445645|protein_coding||c.*567G>A|||||137|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000448604|protein_coding||c.*575G>A|||||149|WARNING_TRANSCRIPT_INCOMPLETE 22 30951882 . G A . . ANN=A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000338911|protein_coding|3/3|c.330C>T|p.Asn110Asn|470/1728|330/1272|110/423||,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000406955|protein_coding|3/3|c.330C>T|p.Asn110Asn|375/1635|330/1272|110/423||,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000402321|protein_coding|3/3|c.330C>T|p.Asn110Asn|648/1908|330/1272|110/423||,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000402369|protein_coding|3/3|c.330C>T|p.Asn110Asn|452/1712|330/1272|110/423||,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000401975|protein_coding|4/4|c.330C>T|p.Asn110Asn|533/1791|330/1272|110/423||,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000406361|protein_coding|4/4|c.330C>T|p.Asn110Asn|571/1819|330/1272|110/423||,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000443111|protein_coding|3/3|c.330C>T|p.Asn110Asn|483/1425|330/1272|110/423||,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000441967|protein_coding|3/3|c.330C>T|p.Asn110Asn|387/894|330/837|110/278||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000431313|protein_coding|3/3|c.333C>T|p.Asn111Asn|388/851|333/796|111/264||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000452827|protein_coding|4/4|c.330C>T|p.Asn110Asn|485/882|330/727|110/241||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000437282|protein_coding|4/4|c.330C>T|p.Asn110Asn|487/755|330/598|110/198||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000416358|protein_coding|3/3|c.330C>T|p.Asn110Asn|401/582|330/511|110/169||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000427899|protein_coding|3/3|c.333C>T|p.Asn111Asn|375/533|333/491|111/162||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000423299|protein_coding|4/4|c.330C>T|p.Asn110Asn|539/656|330/447|110/148||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000443136|protein_coding|3/3|c.330C>T|p.Asn110Asn|483/584|330/431|110/142||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000423371|protein_coding|4/4|c.333C>T|p.Asn111Asn|634/639|333/338|111/111||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|3/3|c.330C>T||||||,A|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|2/3|c.330C>T||||||,A|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000428682|protein_coding||c.*553C>T|||||22|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000453479|protein_coding||c.*639C>T|||||29|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000426220|protein_coding||c.*563C>T|||||34|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000447224|protein_coding||c.*567C>T|||||43|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000411821|protein_coding||c.*572C>T|||||75|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000445645|protein_coding||c.*567C>T|||||103|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000448604|protein_coding||c.*575C>T|||||115|WARNING_TRANSCRIPT_INCOMPLETE 22 30951948 . G A . . ANN=A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000338911|protein_coding|3/3|c.264C>T|p.Ser88Ser|404/1728|264/1272|88/423||,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000406955|protein_coding|3/3|c.264C>T|p.Ser88Ser|309/1635|264/1272|88/423||,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000402321|protein_coding|3/3|c.264C>T|p.Ser88Ser|582/1908|264/1272|88/423||,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000402369|protein_coding|3/3|c.264C>T|p.Ser88Ser|386/1712|264/1272|88/423||,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000401975|protein_coding|4/4|c.264C>T|p.Ser88Ser|467/1791|264/1272|88/423||,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000406361|protein_coding|4/4|c.264C>T|p.Ser88Ser|505/1819|264/1272|88/423||,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000443111|protein_coding|3/3|c.264C>T|p.Ser88Ser|417/1425|264/1272|88/423||,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000441967|protein_coding|3/3|c.264C>T|p.Ser88Ser|321/894|264/837|88/278||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000431313|protein_coding|3/3|c.267C>T|p.Ser89Ser|322/851|267/796|89/264||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000452827|protein_coding|4/4|c.264C>T|p.Ser88Ser|419/882|264/727|88/241||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000437282|protein_coding|4/4|c.264C>T|p.Ser88Ser|421/755|264/598|88/198||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000416358|protein_coding|3/3|c.264C>T|p.Ser88Ser|335/582|264/511|88/169||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000427899|protein_coding|3/3|c.267C>T|p.Ser89Ser|309/533|267/491|89/162||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000423299|protein_coding|4/4|c.264C>T|p.Ser88Ser|473/656|264/447|88/148||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000443136|protein_coding|3/3|c.264C>T|p.Ser88Ser|417/584|264/431|88/142||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000423371|protein_coding|4/4|c.267C>T|p.Ser89Ser|568/639|267/338|89/111||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000428682|protein_coding|5/5|c.264C>T|p.Ser88Ser|509/553|264/308|88/101||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000453479|protein_coding|2/2|c.264C>T|p.Ser88Ser|602/639|264/301|88/99||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000426220|protein_coding|4/4|c.264C>T|p.Ser88Ser|531/563|264/296|88/97||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000447224|protein_coding|5/5|c.264C>T|p.Ser88Ser|544/567|264/287|88/94||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|3/3|c.264C>T||||||,A|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|2/3|c.264C>T||||||,A|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000411821|protein_coding||c.*572C>T|||||9|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000445645|protein_coding||c.*567C>T|||||37|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000448604|protein_coding||c.*575C>T|||||49|WARNING_TRANSCRIPT_INCOMPLETE 22 30951956 . T C . . ANN=C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000338911|protein_coding|3/3|c.256A>G|p.Thr86Ala|396/1728|256/1272|86/423||,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000406955|protein_coding|3/3|c.256A>G|p.Thr86Ala|301/1635|256/1272|86/423||,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000402321|protein_coding|3/3|c.256A>G|p.Thr86Ala|574/1908|256/1272|86/423||,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000402369|protein_coding|3/3|c.256A>G|p.Thr86Ala|378/1712|256/1272|86/423||,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000401975|protein_coding|4/4|c.256A>G|p.Thr86Ala|459/1791|256/1272|86/423||,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000406361|protein_coding|4/4|c.256A>G|p.Thr86Ala|497/1819|256/1272|86/423||,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000443111|protein_coding|3/3|c.256A>G|p.Thr86Ala|409/1425|256/1272|86/423||,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000441967|protein_coding|3/3|c.256A>G|p.Thr86Ala|313/894|256/837|86/278||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000431313|protein_coding|3/3|c.259A>G|p.Thr87Ala|314/851|259/796|87/264||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000452827|protein_coding|4/4|c.256A>G|p.Thr86Ala|411/882|256/727|86/241||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000437282|protein_coding|4/4|c.256A>G|p.Thr86Ala|413/755|256/598|86/198||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000416358|protein_coding|3/3|c.256A>G|p.Thr86Ala|327/582|256/511|86/169||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000427899|protein_coding|3/3|c.259A>G|p.Thr87Ala|301/533|259/491|87/162||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000423299|protein_coding|4/4|c.256A>G|p.Thr86Ala|465/656|256/447|86/148||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000443136|protein_coding|3/3|c.256A>G|p.Thr86Ala|409/584|256/431|86/142||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000423371|protein_coding|4/4|c.259A>G|p.Thr87Ala|560/639|259/338|87/111||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000428682|protein_coding|5/5|c.256A>G|p.Thr86Ala|501/553|256/308|86/101||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000453479|protein_coding|2/2|c.256A>G|p.Thr86Ala|594/639|256/301|86/99||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000426220|protein_coding|4/4|c.256A>G|p.Thr86Ala|523/563|256/296|86/97||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000447224|protein_coding|5/5|c.256A>G|p.Thr86Ala|536/567|256/287|86/94||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|3/3|c.256A>G||||||,C|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|2/3|c.256A>G||||||,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000411821|protein_coding||c.*572A>G|||||1|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000445645|protein_coding||c.*567A>G|||||29|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000448604|protein_coding||c.*575A>G|||||41|WARNING_TRANSCRIPT_INCOMPLETE 22 30951984 . G T . . ANN=T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000338911|protein_coding|3/3|c.228C>A|p.Arg76Arg|368/1728|228/1272|76/423||,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000406955|protein_coding|3/3|c.228C>A|p.Arg76Arg|273/1635|228/1272|76/423||,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000402321|protein_coding|3/3|c.228C>A|p.Arg76Arg|546/1908|228/1272|76/423||,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000402369|protein_coding|3/3|c.228C>A|p.Arg76Arg|350/1712|228/1272|76/423||,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000401975|protein_coding|4/4|c.228C>A|p.Arg76Arg|431/1791|228/1272|76/423||,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000406361|protein_coding|4/4|c.228C>A|p.Arg76Arg|469/1819|228/1272|76/423||,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000443111|protein_coding|3/3|c.228C>A|p.Arg76Arg|381/1425|228/1272|76/423||,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000441967|protein_coding|3/3|c.228C>A|p.Arg76Arg|285/894|228/837|76/278||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000431313|protein_coding|3/3|c.231C>A|p.Arg77Arg|286/851|231/796|77/264||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000452827|protein_coding|4/4|c.228C>A|p.Arg76Arg|383/882|228/727|76/241||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000437282|protein_coding|4/4|c.228C>A|p.Arg76Arg|385/755|228/598|76/198||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000416358|protein_coding|3/3|c.228C>A|p.Arg76Arg|299/582|228/511|76/169||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000427899|protein_coding|3/3|c.231C>A|p.Arg77Arg|273/533|231/491|77/162||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000423299|protein_coding|4/4|c.228C>A|p.Arg76Arg|437/656|228/447|76/148||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000443136|protein_coding|3/3|c.228C>A|p.Arg76Arg|381/584|228/431|76/142||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000423371|protein_coding|4/4|c.231C>A|p.Arg77Arg|532/639|231/338|77/111||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000428682|protein_coding|5/5|c.228C>A|p.Arg76Arg|473/553|228/308|76/101||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000453479|protein_coding|2/2|c.228C>A|p.Arg76Arg|566/639|228/301|76/99||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000426220|protein_coding|4/4|c.228C>A|p.Arg76Arg|495/563|228/296|76/97||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000447224|protein_coding|5/5|c.228C>A|p.Arg76Arg|508/567|228/287|76/94||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000411821|protein_coding|4/4|c.228C>A|p.Arg76Arg|545/572|228/255|76/84||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|3/3|c.228C>A||||||,T|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|2/3|c.228C>A||||||,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000445645|protein_coding||c.*567C>A|||||1|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000448604|protein_coding||c.*575C>A|||||13|WARNING_TRANSCRIPT_INCOMPLETE 22 30951985 . C T . . ANN=T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000338911|protein_coding|3/3|c.227G>A|p.Arg76His|367/1728|227/1272|76/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000406955|protein_coding|3/3|c.227G>A|p.Arg76His|272/1635|227/1272|76/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000402321|protein_coding|3/3|c.227G>A|p.Arg76His|545/1908|227/1272|76/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000402369|protein_coding|3/3|c.227G>A|p.Arg76His|349/1712|227/1272|76/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000401975|protein_coding|4/4|c.227G>A|p.Arg76His|430/1791|227/1272|76/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000406361|protein_coding|4/4|c.227G>A|p.Arg76His|468/1819|227/1272|76/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000443111|protein_coding|3/3|c.227G>A|p.Arg76His|380/1425|227/1272|76/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000441967|protein_coding|3/3|c.227G>A|p.Arg76His|284/894|227/837|76/278||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000431313|protein_coding|3/3|c.230G>A|p.Arg77His|285/851|230/796|77/264||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000452827|protein_coding|4/4|c.227G>A|p.Arg76His|382/882|227/727|76/241||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000437282|protein_coding|4/4|c.227G>A|p.Arg76His|384/755|227/598|76/198||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000416358|protein_coding|3/3|c.227G>A|p.Arg76His|298/582|227/511|76/169||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000427899|protein_coding|3/3|c.230G>A|p.Arg77His|272/533|230/491|77/162||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000423299|protein_coding|4/4|c.227G>A|p.Arg76His|436/656|227/447|76/148||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000443136|protein_coding|3/3|c.227G>A|p.Arg76His|380/584|227/431|76/142||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000423371|protein_coding|4/4|c.230G>A|p.Arg77His|531/639|230/338|77/111||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000428682|protein_coding|5/5|c.227G>A|p.Arg76His|472/553|227/308|76/101||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000453479|protein_coding|2/2|c.227G>A|p.Arg76His|565/639|227/301|76/99||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000426220|protein_coding|4/4|c.227G>A|p.Arg76His|494/563|227/296|76/97||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000447224|protein_coding|5/5|c.227G>A|p.Arg76His|507/567|227/287|76/94||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000411821|protein_coding|4/4|c.227G>A|p.Arg76His|544/572|227/255|76/84||WARNING_TRANSCRIPT_NO_STOP_CODON,T|splice_region_variant&synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000445645|protein_coding|5/5|c.227G>A|p.???76???|567/567|227/227|76/74||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|3/3|c.227G>A||||||,T|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|2/3|c.227G>A||||||,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000448604|protein_coding||c.*575G>A|||||12|WARNING_TRANSCRIPT_INCOMPLETE 22 30952014 . G A . . ANN=A|sequence_feature|MODERATE|GAL3ST1|ENSG00000128242|glycosylation_site:N-linked__GlcNAc..._|ENST00000443111|protein_coding|3/3|c.198C>T||||||,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000338911|protein_coding|3/3|c.198C>T|p.Asn66Asn|338/1728|198/1272|66/423||,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000406955|protein_coding|3/3|c.198C>T|p.Asn66Asn|243/1635|198/1272|66/423||,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000402321|protein_coding|3/3|c.198C>T|p.Asn66Asn|516/1908|198/1272|66/423||,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000402369|protein_coding|3/3|c.198C>T|p.Asn66Asn|320/1712|198/1272|66/423||,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000401975|protein_coding|4/4|c.198C>T|p.Asn66Asn|401/1791|198/1272|66/423||,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000406361|protein_coding|4/4|c.198C>T|p.Asn66Asn|439/1819|198/1272|66/423||,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000443111|protein_coding|3/3|c.198C>T|p.Asn66Asn|351/1425|198/1272|66/423||,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000441967|protein_coding|3/3|c.198C>T|p.Asn66Asn|255/894|198/837|66/278||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000431313|protein_coding|3/3|c.201C>T|p.Asn67Asn|256/851|201/796|67/264||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000452827|protein_coding|4/4|c.198C>T|p.Asn66Asn|353/882|198/727|66/241||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000437282|protein_coding|4/4|c.198C>T|p.Asn66Asn|355/755|198/598|66/198||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000416358|protein_coding|3/3|c.198C>T|p.Asn66Asn|269/582|198/511|66/169||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000427899|protein_coding|3/3|c.201C>T|p.Asn67Asn|243/533|201/491|67/162||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000423299|protein_coding|4/4|c.198C>T|p.Asn66Asn|407/656|198/447|66/148||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000443136|protein_coding|3/3|c.198C>T|p.Asn66Asn|351/584|198/431|66/142||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000423371|protein_coding|4/4|c.201C>T|p.Asn67Asn|502/639|201/338|67/111||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000428682|protein_coding|5/5|c.198C>T|p.Asn66Asn|443/553|198/308|66/101||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000453479|protein_coding|2/2|c.198C>T|p.Asn66Asn|536/639|198/301|66/99||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000426220|protein_coding|4/4|c.198C>T|p.Asn66Asn|465/563|198/296|66/97||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000447224|protein_coding|5/5|c.198C>T|p.Asn66Asn|478/567|198/287|66/94||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000411821|protein_coding|4/4|c.198C>T|p.Asn66Asn|515/572|198/255|66/84||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000445645|protein_coding|5/5|c.198C>T|p.Asn66Asn|538/567|198/227|66/74||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000448604|protein_coding|6/6|c.198C>T|p.Asn66Asn|558/575|198/215|66/70||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|3/3|c.198C>T||||||,A|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|2/3|c.198C>T|||||| 22 30952023 . G A . . ANN=A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000338911|protein_coding|3/3|c.189C>T|p.Ile63Ile|329/1728|189/1272|63/423||,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000406955|protein_coding|3/3|c.189C>T|p.Ile63Ile|234/1635|189/1272|63/423||,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000402321|protein_coding|3/3|c.189C>T|p.Ile63Ile|507/1908|189/1272|63/423||,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000402369|protein_coding|3/3|c.189C>T|p.Ile63Ile|311/1712|189/1272|63/423||,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000401975|protein_coding|4/4|c.189C>T|p.Ile63Ile|392/1791|189/1272|63/423||,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000406361|protein_coding|4/4|c.189C>T|p.Ile63Ile|430/1819|189/1272|63/423||,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000443111|protein_coding|3/3|c.189C>T|p.Ile63Ile|342/1425|189/1272|63/423||,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000441967|protein_coding|3/3|c.189C>T|p.Ile63Ile|246/894|189/837|63/278||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000431313|protein_coding|3/3|c.192C>T|p.Ile64Ile|247/851|192/796|64/264||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000452827|protein_coding|4/4|c.189C>T|p.Ile63Ile|344/882|189/727|63/241||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000437282|protein_coding|4/4|c.189C>T|p.Ile63Ile|346/755|189/598|63/198||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000416358|protein_coding|3/3|c.189C>T|p.Ile63Ile|260/582|189/511|63/169||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000427899|protein_coding|3/3|c.192C>T|p.Ile64Ile|234/533|192/491|64/162||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000423299|protein_coding|4/4|c.189C>T|p.Ile63Ile|398/656|189/447|63/148||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000443136|protein_coding|3/3|c.189C>T|p.Ile63Ile|342/584|189/431|63/142||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000423371|protein_coding|4/4|c.192C>T|p.Ile64Ile|493/639|192/338|64/111||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000428682|protein_coding|5/5|c.189C>T|p.Ile63Ile|434/553|189/308|63/101||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000453479|protein_coding|2/2|c.189C>T|p.Ile63Ile|527/639|189/301|63/99||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000426220|protein_coding|4/4|c.189C>T|p.Ile63Ile|456/563|189/296|63/97||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000447224|protein_coding|5/5|c.189C>T|p.Ile63Ile|469/567|189/287|63/94||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000411821|protein_coding|4/4|c.189C>T|p.Ile63Ile|506/572|189/255|63/84||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000445645|protein_coding|5/5|c.189C>T|p.Ile63Ile|529/567|189/227|63/74||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000448604|protein_coding|6/6|c.189C>T|p.Ile63Ile|549/575|189/215|63/70||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|3/3|c.189C>T||||||,A|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|2/3|c.189C>T|||||| 22 30952041 . G A . . ANN=A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000338911|protein_coding|3/3|c.171C>T|p.Leu57Leu|311/1728|171/1272|57/423||,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000406955|protein_coding|3/3|c.171C>T|p.Leu57Leu|216/1635|171/1272|57/423||,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000402321|protein_coding|3/3|c.171C>T|p.Leu57Leu|489/1908|171/1272|57/423||,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000402369|protein_coding|3/3|c.171C>T|p.Leu57Leu|293/1712|171/1272|57/423||,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000401975|protein_coding|4/4|c.171C>T|p.Leu57Leu|374/1791|171/1272|57/423||,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000406361|protein_coding|4/4|c.171C>T|p.Leu57Leu|412/1819|171/1272|57/423||,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000443111|protein_coding|3/3|c.171C>T|p.Leu57Leu|324/1425|171/1272|57/423||,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000441967|protein_coding|3/3|c.171C>T|p.Leu57Leu|228/894|171/837|57/278||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000431313|protein_coding|3/3|c.174C>T|p.Leu58Leu|229/851|174/796|58/264||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000452827|protein_coding|4/4|c.171C>T|p.Leu57Leu|326/882|171/727|57/241||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000437282|protein_coding|4/4|c.171C>T|p.Leu57Leu|328/755|171/598|57/198||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000416358|protein_coding|3/3|c.171C>T|p.Leu57Leu|242/582|171/511|57/169||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000427899|protein_coding|3/3|c.174C>T|p.Leu58Leu|216/533|174/491|58/162||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000423299|protein_coding|4/4|c.171C>T|p.Leu57Leu|380/656|171/447|57/148||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000443136|protein_coding|3/3|c.171C>T|p.Leu57Leu|324/584|171/431|57/142||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000423371|protein_coding|4/4|c.174C>T|p.Leu58Leu|475/639|174/338|58/111||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000428682|protein_coding|5/5|c.171C>T|p.Leu57Leu|416/553|171/308|57/101||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000453479|protein_coding|2/2|c.171C>T|p.Leu57Leu|509/639|171/301|57/99||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000426220|protein_coding|4/4|c.171C>T|p.Leu57Leu|438/563|171/296|57/97||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000447224|protein_coding|5/5|c.171C>T|p.Leu57Leu|451/567|171/287|57/94||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000411821|protein_coding|4/4|c.171C>T|p.Leu57Leu|488/572|171/255|57/84||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000445645|protein_coding|5/5|c.171C>T|p.Leu57Leu|511/567|171/227|57/74||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000448604|protein_coding|6/6|c.171C>T|p.Leu57Leu|531/575|171/215|57/70||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|3/3|c.171C>T||||||,A|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|2/3|c.171C>T|||||| 22 30952062 . C T . . ANN=T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000338911|protein_coding|3/3|c.150G>A|p.Ala50Ala|290/1728|150/1272|50/423||,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000406955|protein_coding|3/3|c.150G>A|p.Ala50Ala|195/1635|150/1272|50/423||,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000402321|protein_coding|3/3|c.150G>A|p.Ala50Ala|468/1908|150/1272|50/423||,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000402369|protein_coding|3/3|c.150G>A|p.Ala50Ala|272/1712|150/1272|50/423||,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000401975|protein_coding|4/4|c.150G>A|p.Ala50Ala|353/1791|150/1272|50/423||,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000406361|protein_coding|4/4|c.150G>A|p.Ala50Ala|391/1819|150/1272|50/423||,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000443111|protein_coding|3/3|c.150G>A|p.Ala50Ala|303/1425|150/1272|50/423||,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000441967|protein_coding|3/3|c.150G>A|p.Ala50Ala|207/894|150/837|50/278||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000431313|protein_coding|3/3|c.153G>A|p.Ala51Ala|208/851|153/796|51/264||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000452827|protein_coding|4/4|c.150G>A|p.Ala50Ala|305/882|150/727|50/241||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000437282|protein_coding|4/4|c.150G>A|p.Ala50Ala|307/755|150/598|50/198||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000416358|protein_coding|3/3|c.150G>A|p.Ala50Ala|221/582|150/511|50/169||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000427899|protein_coding|3/3|c.153G>A|p.Ala51Ala|195/533|153/491|51/162||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000423299|protein_coding|4/4|c.150G>A|p.Ala50Ala|359/656|150/447|50/148||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000443136|protein_coding|3/3|c.150G>A|p.Ala50Ala|303/584|150/431|50/142||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000423371|protein_coding|4/4|c.153G>A|p.Ala51Ala|454/639|153/338|51/111||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000428682|protein_coding|5/5|c.150G>A|p.Ala50Ala|395/553|150/308|50/101||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000453479|protein_coding|2/2|c.150G>A|p.Ala50Ala|488/639|150/301|50/99||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000426220|protein_coding|4/4|c.150G>A|p.Ala50Ala|417/563|150/296|50/97||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000447224|protein_coding|5/5|c.150G>A|p.Ala50Ala|430/567|150/287|50/94||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000411821|protein_coding|4/4|c.150G>A|p.Ala50Ala|467/572|150/255|50/84||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000445645|protein_coding|5/5|c.150G>A|p.Ala50Ala|490/567|150/227|50/74||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000448604|protein_coding|6/6|c.150G>A|p.Ala50Ala|510/575|150/215|50/70||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|3/3|c.150G>A||||||,T|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|2/3|c.150G>A|||||| 22 30953203 . T C . . ANN=C|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|3/3|c.131+46A>G||||||,C|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|2/3|c.131+46A>G||||||,C|intron_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000338911|protein_coding|2/2|c.131+46A>G||||||,C|intron_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000406955|protein_coding|2/2|c.131+46A>G||||||,C|intron_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000402321|protein_coding|2/2|c.131+46A>G||||||,C|intron_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000402369|protein_coding|2/2|c.131+46A>G||||||,C|intron_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000401975|protein_coding|3/3|c.131+46A>G||||||,C|intron_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000406361|protein_coding|3/3|c.131+46A>G||||||,C|intron_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000443111|protein_coding|2/2|c.131+46A>G||||||,C|intron_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000441967|protein_coding|2/2|c.131+46A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000431313|protein_coding|2/2|c.131+46A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000452827|protein_coding|3/3|c.131+46A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000437282|protein_coding|3/3|c.131+46A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000416358|protein_coding|2/2|c.131+46A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000427899|protein_coding|2/2|c.131+46A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000423299|protein_coding|3/3|c.131+46A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000443136|protein_coding|2/2|c.131+46A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000423371|protein_coding|3/3|c.131+46A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000428682|protein_coding|4/4|c.131+46A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000453479|protein_coding|1/1|c.131+46A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000426220|protein_coding|3/3|c.131+46A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000447224|protein_coding|4/4|c.131+46A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000411821|protein_coding|3/3|c.131+46A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000445645|protein_coding|4/4|c.131+46A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000448604|protein_coding|5/5|c.131+46A>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 30953261 . C G . . ANN=G|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000338911|protein_coding|2/3|c.119G>C|p.Gly40Ala|259/1728|119/1272|40/423||,G|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000406955|protein_coding|2/3|c.119G>C|p.Gly40Ala|164/1635|119/1272|40/423||,G|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000402321|protein_coding|2/3|c.119G>C|p.Gly40Ala|437/1908|119/1272|40/423||,G|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000402369|protein_coding|2/3|c.119G>C|p.Gly40Ala|241/1712|119/1272|40/423||,G|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000401975|protein_coding|3/4|c.119G>C|p.Gly40Ala|322/1791|119/1272|40/423||,G|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000406361|protein_coding|3/4|c.119G>C|p.Gly40Ala|360/1819|119/1272|40/423||,G|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000443111|protein_coding|2/3|c.119G>C|p.Gly40Ala|272/1425|119/1272|40/423||,G|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000441967|protein_coding|2/3|c.119G>C|p.Gly40Ala|176/894|119/837|40/278||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000431313|protein_coding|2/3|c.119G>C|p.Gly40Ala|174/851|119/796|40/264||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000452827|protein_coding|3/4|c.119G>C|p.Gly40Ala|274/882|119/727|40/241||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000437282|protein_coding|3/4|c.119G>C|p.Gly40Ala|276/755|119/598|40/198||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000416358|protein_coding|2/3|c.119G>C|p.Gly40Ala|190/582|119/511|40/169||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000427899|protein_coding|2/3|c.119G>C|p.Gly40Ala|161/533|119/491|40/162||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000423299|protein_coding|3/4|c.119G>C|p.Gly40Ala|328/656|119/447|40/148||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000443136|protein_coding|2/3|c.119G>C|p.Gly40Ala|272/584|119/431|40/142||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000423371|protein_coding|3/4|c.119G>C|p.Gly40Ala|420/639|119/338|40/111||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000428682|protein_coding|4/5|c.119G>C|p.Gly40Ala|364/553|119/308|40/101||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000453479|protein_coding|1/2|c.119G>C|p.Gly40Ala|457/639|119/301|40/99||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000426220|protein_coding|3/4|c.119G>C|p.Gly40Ala|386/563|119/296|40/97||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000447224|protein_coding|4/5|c.119G>C|p.Gly40Ala|399/567|119/287|40/94||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000411821|protein_coding|3/4|c.119G>C|p.Gly40Ala|436/572|119/255|40/84||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000445645|protein_coding|4/5|c.119G>C|p.Gly40Ala|459/567|119/227|40/74||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000448604|protein_coding|5/6|c.119G>C|p.Gly40Ala|479/575|119/215|40/70||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|3/3|c.119G>C||||||,G|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|2/3|c.119G>C|||||| 22 30953280 . C T . . ANN=T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000338911|protein_coding|2/3|c.100G>A|p.Val34Met|240/1728|100/1272|34/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000406955|protein_coding|2/3|c.100G>A|p.Val34Met|145/1635|100/1272|34/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000402321|protein_coding|2/3|c.100G>A|p.Val34Met|418/1908|100/1272|34/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000402369|protein_coding|2/3|c.100G>A|p.Val34Met|222/1712|100/1272|34/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000401975|protein_coding|3/4|c.100G>A|p.Val34Met|303/1791|100/1272|34/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000406361|protein_coding|3/4|c.100G>A|p.Val34Met|341/1819|100/1272|34/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000443111|protein_coding|2/3|c.100G>A|p.Val34Met|253/1425|100/1272|34/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000441967|protein_coding|2/3|c.100G>A|p.Val34Met|157/894|100/837|34/278||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000431313|protein_coding|2/3|c.100G>A|p.Val34Met|155/851|100/796|34/264||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000452827|protein_coding|3/4|c.100G>A|p.Val34Met|255/882|100/727|34/241||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000437282|protein_coding|3/4|c.100G>A|p.Val34Met|257/755|100/598|34/198||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000416358|protein_coding|2/3|c.100G>A|p.Val34Met|171/582|100/511|34/169||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000427899|protein_coding|2/3|c.100G>A|p.Val34Met|142/533|100/491|34/162||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000423299|protein_coding|3/4|c.100G>A|p.Val34Met|309/656|100/447|34/148||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000443136|protein_coding|2/3|c.100G>A|p.Val34Met|253/584|100/431|34/142||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000423371|protein_coding|3/4|c.100G>A|p.Val34Met|401/639|100/338|34/111||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000428682|protein_coding|4/5|c.100G>A|p.Val34Met|345/553|100/308|34/101||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000453479|protein_coding|1/2|c.100G>A|p.Val34Met|438/639|100/301|34/99||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000426220|protein_coding|3/4|c.100G>A|p.Val34Met|367/563|100/296|34/97||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000447224|protein_coding|4/5|c.100G>A|p.Val34Met|380/567|100/287|34/94||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000411821|protein_coding|3/4|c.100G>A|p.Val34Met|417/572|100/255|34/84||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000445645|protein_coding|4/5|c.100G>A|p.Val34Met|440/567|100/227|34/74||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000448604|protein_coding|5/6|c.100G>A|p.Val34Met|460/575|100/215|34/70||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|GAL3ST1|ENSG00000128242|transmembrane_region:Transmembrane_region|ENST00000443111|protein_coding|2/3|c.100G>A|||||| 22 30953295 . C T . . ANN=T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000338911|protein_coding|2/3|c.85G>A|p.Val29Met|225/1728|85/1272|29/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000406955|protein_coding|2/3|c.85G>A|p.Val29Met|130/1635|85/1272|29/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000402321|protein_coding|2/3|c.85G>A|p.Val29Met|403/1908|85/1272|29/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000402369|protein_coding|2/3|c.85G>A|p.Val29Met|207/1712|85/1272|29/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000401975|protein_coding|3/4|c.85G>A|p.Val29Met|288/1791|85/1272|29/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000406361|protein_coding|3/4|c.85G>A|p.Val29Met|326/1819|85/1272|29/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000443111|protein_coding|2/3|c.85G>A|p.Val29Met|238/1425|85/1272|29/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000441967|protein_coding|2/3|c.85G>A|p.Val29Met|142/894|85/837|29/278||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000431313|protein_coding|2/3|c.85G>A|p.Val29Met|140/851|85/796|29/264||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000452827|protein_coding|3/4|c.85G>A|p.Val29Met|240/882|85/727|29/241||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000437282|protein_coding|3/4|c.85G>A|p.Val29Met|242/755|85/598|29/198||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000416358|protein_coding|2/3|c.85G>A|p.Val29Met|156/582|85/511|29/169||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000427899|protein_coding|2/3|c.85G>A|p.Val29Met|127/533|85/491|29/162||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000423299|protein_coding|3/4|c.85G>A|p.Val29Met|294/656|85/447|29/148||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000443136|protein_coding|2/3|c.85G>A|p.Val29Met|238/584|85/431|29/142||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000423371|protein_coding|3/4|c.85G>A|p.Val29Met|386/639|85/338|29/111||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000428682|protein_coding|4/5|c.85G>A|p.Val29Met|330/553|85/308|29/101||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000453479|protein_coding|1/2|c.85G>A|p.Val29Met|423/639|85/301|29/99||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000426220|protein_coding|3/4|c.85G>A|p.Val29Met|352/563|85/296|29/97||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000447224|protein_coding|4/5|c.85G>A|p.Val29Met|365/567|85/287|29/94||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000411821|protein_coding|3/4|c.85G>A|p.Val29Met|402/572|85/255|29/84||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000445645|protein_coding|4/5|c.85G>A|p.Val29Met|425/567|85/227|29/74||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000448604|protein_coding|5/6|c.85G>A|p.Val29Met|445/575|85/215|29/70||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|GAL3ST1|ENSG00000128242|transmembrane_region:Transmembrane_region|ENST00000443111|protein_coding|2/3|c.85G>A|||||| 22 30953332 . C T . . ANN=T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000338911|protein_coding|2/3|c.48G>A|p.Leu16Leu|188/1728|48/1272|16/423||,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000406955|protein_coding|2/3|c.48G>A|p.Leu16Leu|93/1635|48/1272|16/423||,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000402321|protein_coding|2/3|c.48G>A|p.Leu16Leu|366/1908|48/1272|16/423||,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000402369|protein_coding|2/3|c.48G>A|p.Leu16Leu|170/1712|48/1272|16/423||,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000401975|protein_coding|3/4|c.48G>A|p.Leu16Leu|251/1791|48/1272|16/423||,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000406361|protein_coding|3/4|c.48G>A|p.Leu16Leu|289/1819|48/1272|16/423||,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000443111|protein_coding|2/3|c.48G>A|p.Leu16Leu|201/1425|48/1272|16/423||,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000441967|protein_coding|2/3|c.48G>A|p.Leu16Leu|105/894|48/837|16/278||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000431313|protein_coding|2/3|c.48G>A|p.Leu16Leu|103/851|48/796|16/264||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000452827|protein_coding|3/4|c.48G>A|p.Leu16Leu|203/882|48/727|16/241||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000437282|protein_coding|3/4|c.48G>A|p.Leu16Leu|205/755|48/598|16/198||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000416358|protein_coding|2/3|c.48G>A|p.Leu16Leu|119/582|48/511|16/169||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000427899|protein_coding|2/3|c.48G>A|p.Leu16Leu|90/533|48/491|16/162||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000423299|protein_coding|3/4|c.48G>A|p.Leu16Leu|257/656|48/447|16/148||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000443136|protein_coding|2/3|c.48G>A|p.Leu16Leu|201/584|48/431|16/142||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000423371|protein_coding|3/4|c.48G>A|p.Leu16Leu|349/639|48/338|16/111||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000428682|protein_coding|4/5|c.48G>A|p.Leu16Leu|293/553|48/308|16/101||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000453479|protein_coding|1/2|c.48G>A|p.Leu16Leu|386/639|48/301|16/99||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000426220|protein_coding|3/4|c.48G>A|p.Leu16Leu|315/563|48/296|16/97||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000447224|protein_coding|4/5|c.48G>A|p.Leu16Leu|328/567|48/287|16/94||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000411821|protein_coding|3/4|c.48G>A|p.Leu16Leu|365/572|48/255|16/84||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000445645|protein_coding|4/5|c.48G>A|p.Leu16Leu|388/567|48/227|16/74||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000448604|protein_coding|5/6|c.48G>A|p.Leu16Leu|408/575|48/215|16/70||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|GAL3ST1|ENSG00000128242|transmembrane_region:Transmembrane_region|ENST00000443111|protein_coding|2/3|c.48G>A|||||| 22 30953352 . C T . . ANN=T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000338911|protein_coding|2/3|c.28G>A|p.Glu10Lys|168/1728|28/1272|10/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000406955|protein_coding|2/3|c.28G>A|p.Glu10Lys|73/1635|28/1272|10/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000402321|protein_coding|2/3|c.28G>A|p.Glu10Lys|346/1908|28/1272|10/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000402369|protein_coding|2/3|c.28G>A|p.Glu10Lys|150/1712|28/1272|10/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000401975|protein_coding|3/4|c.28G>A|p.Glu10Lys|231/1791|28/1272|10/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000406361|protein_coding|3/4|c.28G>A|p.Glu10Lys|269/1819|28/1272|10/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000443111|protein_coding|2/3|c.28G>A|p.Glu10Lys|181/1425|28/1272|10/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000441967|protein_coding|2/3|c.28G>A|p.Glu10Lys|85/894|28/837|10/278||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000431313|protein_coding|2/3|c.28G>A|p.Glu10Lys|83/851|28/796|10/264||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000452827|protein_coding|3/4|c.28G>A|p.Glu10Lys|183/882|28/727|10/241||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000437282|protein_coding|3/4|c.28G>A|p.Glu10Lys|185/755|28/598|10/198||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000416358|protein_coding|2/3|c.28G>A|p.Glu10Lys|99/582|28/511|10/169||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000427899|protein_coding|2/3|c.28G>A|p.Glu10Lys|70/533|28/491|10/162||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000423299|protein_coding|3/4|c.28G>A|p.Glu10Lys|237/656|28/447|10/148||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000443136|protein_coding|2/3|c.28G>A|p.Glu10Lys|181/584|28/431|10/142||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000423371|protein_coding|3/4|c.28G>A|p.Glu10Lys|329/639|28/338|10/111||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000428682|protein_coding|4/5|c.28G>A|p.Glu10Lys|273/553|28/308|10/101||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000453479|protein_coding|1/2|c.28G>A|p.Glu10Lys|366/639|28/301|10/99||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000426220|protein_coding|3/4|c.28G>A|p.Glu10Lys|295/563|28/296|10/97||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000447224|protein_coding|4/5|c.28G>A|p.Glu10Lys|308/567|28/287|10/94||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000411821|protein_coding|3/4|c.28G>A|p.Glu10Lys|345/572|28/255|10/84||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000445645|protein_coding|4/5|c.28G>A|p.Glu10Lys|368/567|28/227|10/74||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000448604|protein_coding|5/6|c.28G>A|p.Glu10Lys|388/575|28/215|10/70||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Cytoplasmic|ENST00000443111|protein_coding|2/3|c.28G>A|||||| 22 30973025 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|15/15|c.*8C>T|||||8|,A|3_prime_UTR_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|17/17|c.*8C>T|||||8|,A|3_prime_UTR_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000441668|protein_coding|4/4|c.*8C>T|||||8|WARNING_TRANSCRIPT_NO_START_CODON,A|3_prime_UTR_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|17/17|c.*8C>T|||||8|,A|3_prime_UTR_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|15/15|c.*8C>T|||||8|,A|3_prime_UTR_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|15/15|c.*8C>T|||||8|,A|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000402369|protein_coding||c.-123C>T|||||2460|,A|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000406361|protein_coding||c.-242C>T|||||2451|,A|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000443111|protein_coding||c.-154C>T|||||4208|,A|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000431313|protein_coding||c.-56C>T|||||2527|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000416358|protein_coding||c.-72C>T|||||4174|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000443136|protein_coding||c.-154C>T|||||4208|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000423371|protein_coding||c.-302C>T|||||4170|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000426220|protein_coding||c.-268C>T|||||4204|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000411821|protein_coding||c.-318C>T|||||4169|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000445645|protein_coding||c.-341C>T|||||4180|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000448604|protein_coding||c.-361C>T|||||4169|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay||n.*78C>T|||||4296|,A|non_coding_exon_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000488719|retained_intron|2/2|n.1330C>T|||||| 22 30973075 . C T . . ANN=T|synonymous_variant|LOW|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|15/15|c.1725G>A|p.Ala575Ala|1832/2295|1725/1767|575/588||,T|synonymous_variant|LOW|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|17/17|c.1308G>A|p.Ala436Ala|2300/2760|1308/1350|436/449||,T|synonymous_variant|LOW|PES1|ENSG00000100029|transcript|ENST00000441668|protein_coding|4/4|c.540G>A|p.Ala180Ala|541/999|540/582|180/193||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|17/17|c.1308G>A|p.Ala436Ala|2252/2708|1308/1350|436/449||,T|synonymous_variant|LOW|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|15/15|c.1674G>A|p.Ala558Ala|1721/2144|1674/1716|558/571||,T|synonymous_variant|LOW|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|15/15|c.1710G>A|p.Ala570Ala|1735/1988|1710/1752|570/583||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Required_for_28S_ribosomal_RNA_processing|ENST00000354694|protein_coding|14/15|c.1725G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Required_for_28S_ribosomal_RNA_processing|ENST00000354694|protein_coding|15/15|c.1725G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Required_for_28S_ribosomal_RNA_processing|ENST00000335214|protein_coding|15/15|c.1710G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Required_for_28S_ribosomal_RNA_processing|ENST00000335214|protein_coding|14/15|c.1710G>A||||||,T|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000402369|protein_coding||c.-123G>A|||||2510|,T|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000406361|protein_coding||c.-242G>A|||||2501|,T|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000443111|protein_coding||c.-154G>A|||||4258|,T|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000431313|protein_coding||c.-56G>A|||||2577|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000416358|protein_coding||c.-72G>A|||||4224|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000443136|protein_coding||c.-154G>A|||||4258|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000423371|protein_coding||c.-302G>A|||||4220|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000426220|protein_coding||c.-268G>A|||||4254|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000411821|protein_coding||c.-318G>A|||||4219|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000445645|protein_coding||c.-341G>A|||||4230|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000448604|protein_coding||c.-361G>A|||||4219|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay||n.*78G>A|||||4246|,T|non_coding_exon_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000488719|retained_intron|2/2|n.1280G>A|||||| 22 30973076 . G A . . ANN=A|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|15/15|c.1724C>T|p.Ala575Val|1831/2295|1724/1767|575/588||,A|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|17/17|c.1307C>T|p.Ala436Val|2299/2760|1307/1350|436/449||,A|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000441668|protein_coding|4/4|c.539C>T|p.Ala180Val|540/999|539/582|180/193||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|17/17|c.1307C>T|p.Ala436Val|2251/2708|1307/1350|436/449||,A|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|15/15|c.1673C>T|p.Ala558Val|1720/2144|1673/1716|558/571||,A|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|15/15|c.1709C>T|p.Ala570Val|1734/1988|1709/1752|570/583||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Required_for_28S_ribosomal_RNA_processing|ENST00000354694|protein_coding|14/15|c.1724C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Required_for_28S_ribosomal_RNA_processing|ENST00000354694|protein_coding|15/15|c.1724C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Required_for_28S_ribosomal_RNA_processing|ENST00000335214|protein_coding|15/15|c.1709C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Required_for_28S_ribosomal_RNA_processing|ENST00000335214|protein_coding|14/15|c.1709C>T||||||,A|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000402369|protein_coding||c.-123C>T|||||2511|,A|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000406361|protein_coding||c.-242C>T|||||2502|,A|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000443111|protein_coding||c.-154C>T|||||4259|,A|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000431313|protein_coding||c.-56C>T|||||2578|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000416358|protein_coding||c.-72C>T|||||4225|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000443136|protein_coding||c.-154C>T|||||4259|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000423371|protein_coding||c.-302C>T|||||4221|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000426220|protein_coding||c.-268C>T|||||4255|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000411821|protein_coding||c.-318C>T|||||4220|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000445645|protein_coding||c.-341C>T|||||4231|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000448604|protein_coding||c.-361C>T|||||4220|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay||n.*78C>T|||||4245|,A|non_coding_exon_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000488719|retained_intron|2/2|n.1279C>T|||||| 22 30973146 . AG A . . ANN=|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Required_for_28S_ribosomal_RNA_processing|ENST00000354694|protein_coding|14/15|c.1684-31delC||||||,|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Required_for_28S_ribosomal_RNA_processing|ENST00000354694|protein_coding|15/15|c.1684-31delC||||||,|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Required_for_28S_ribosomal_RNA_processing|ENST00000335214|protein_coding|15/15|c.1669-31delC||||||,|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Required_for_28S_ribosomal_RNA_processing|ENST00000335214|protein_coding|14/15|c.1669-31delC||||||,|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000402369|protein_coding||c.-123delC|||||2582|,|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000406361|protein_coding||c.-242delC|||||2573|,|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000443111|protein_coding||c.-154delC|||||4330|,|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000431313|protein_coding||c.-56delC|||||2649|WARNING_TRANSCRIPT_INCOMPLETE,|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000416358|protein_coding||c.-72delC|||||4296|WARNING_TRANSCRIPT_INCOMPLETE,|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000443136|protein_coding||c.-154delC|||||4330|WARNING_TRANSCRIPT_INCOMPLETE,|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000423371|protein_coding||c.-302delC|||||4292|WARNING_TRANSCRIPT_INCOMPLETE,|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000426220|protein_coding||c.-268delC|||||4326|WARNING_TRANSCRIPT_INCOMPLETE,|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000411821|protein_coding||c.-318delC|||||4291|WARNING_TRANSCRIPT_NO_STOP_CODON,|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000445645|protein_coding||c.-341delC|||||4302|WARNING_TRANSCRIPT_INCOMPLETE,|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000448604|protein_coding||c.-361delC|||||4291|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay||n.*78delC|||||4174|,|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|14/14|c.1684-31delC||||||,|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|16/16|c.1267-31delC||||||,|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000441668|protein_coding|3/3|c.499-31delC||||||WARNING_TRANSCRIPT_NO_START_CODON,|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|16/16|c.1267-31delC||||||,|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000488719|retained_intron|1/1|n.1239-31delC||||||,|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|14/14|c.1633-31delC||||||,|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|14/14|c.1669-31delC|||||| 22 30973148 . GT G . . ANN=|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Required_for_28S_ribosomal_RNA_processing|ENST00000354694|protein_coding|14/15|c.1684-33delA||||||,|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Required_for_28S_ribosomal_RNA_processing|ENST00000354694|protein_coding|15/15|c.1684-33delA||||||,|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Required_for_28S_ribosomal_RNA_processing|ENST00000335214|protein_coding|15/15|c.1669-33delA||||||,|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Required_for_28S_ribosomal_RNA_processing|ENST00000335214|protein_coding|14/15|c.1669-33delA||||||,|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000402369|protein_coding||c.-123delA|||||2584|,|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000406361|protein_coding||c.-242delA|||||2575|,|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000443111|protein_coding||c.-154delA|||||4332|,|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000431313|protein_coding||c.-56delA|||||2651|WARNING_TRANSCRIPT_INCOMPLETE,|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000416358|protein_coding||c.-72delA|||||4298|WARNING_TRANSCRIPT_INCOMPLETE,|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000443136|protein_coding||c.-154delA|||||4332|WARNING_TRANSCRIPT_INCOMPLETE,|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000423371|protein_coding||c.-302delA|||||4294|WARNING_TRANSCRIPT_INCOMPLETE,|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000426220|protein_coding||c.-268delA|||||4328|WARNING_TRANSCRIPT_INCOMPLETE,|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000411821|protein_coding||c.-318delA|||||4293|WARNING_TRANSCRIPT_NO_STOP_CODON,|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000445645|protein_coding||c.-341delA|||||4304|WARNING_TRANSCRIPT_INCOMPLETE,|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000448604|protein_coding||c.-361delA|||||4293|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay||n.*78delA|||||4172|,|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|14/14|c.1684-33delA||||||,|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|16/16|c.1267-33delA||||||,|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000441668|protein_coding|3/3|c.499-33delA||||||WARNING_TRANSCRIPT_NO_START_CODON,|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|16/16|c.1267-33delA||||||,|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000488719|retained_intron|1/1|n.1239-33delA||||||,|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|14/14|c.1633-33delA||||||,|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|14/14|c.1669-33delA|||||| 22 30973150 . A G . . ANN=G|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Required_for_28S_ribosomal_RNA_processing|ENST00000354694|protein_coding|14/15|c.1684-34T>C||||||,G|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Required_for_28S_ribosomal_RNA_processing|ENST00000354694|protein_coding|15/15|c.1684-34T>C||||||,G|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Required_for_28S_ribosomal_RNA_processing|ENST00000335214|protein_coding|15/15|c.1669-34T>C||||||,G|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Required_for_28S_ribosomal_RNA_processing|ENST00000335214|protein_coding|14/15|c.1669-34T>C||||||,G|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000402369|protein_coding||c.-123T>C|||||2585|,G|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000406361|protein_coding||c.-242T>C|||||2576|,G|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000443111|protein_coding||c.-154T>C|||||4333|,G|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000431313|protein_coding||c.-56T>C|||||2652|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000416358|protein_coding||c.-72T>C|||||4299|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000443136|protein_coding||c.-154T>C|||||4333|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000423371|protein_coding||c.-302T>C|||||4295|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000426220|protein_coding||c.-268T>C|||||4329|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000411821|protein_coding||c.-318T>C|||||4294|WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000445645|protein_coding||c.-341T>C|||||4305|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000448604|protein_coding||c.-361T>C|||||4294|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay||n.*78T>C|||||4171|,G|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|14/14|c.1684-34T>C||||||,G|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|16/16|c.1267-34T>C||||||,G|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000441668|protein_coding|3/3|c.499-34T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|16/16|c.1267-34T>C||||||,G|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000488719|retained_intron|1/1|n.1239-34T>C||||||,G|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|14/14|c.1633-34T>C||||||,G|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|14/14|c.1669-34T>C|||||| 22 30974798 . A G . . ANN=G|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Required_for_28S_ribosomal_RNA_processing|ENST00000354694|protein_coding|14/15|c.1683+26T>C||||||,G|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Required_for_28S_ribosomal_RNA_processing|ENST00000354694|protein_coding|15/15|c.1683+26T>C||||||,G|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Required_for_28S_ribosomal_RNA_processing|ENST00000335214|protein_coding|15/15|c.1668+26T>C||||||,G|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Required_for_28S_ribosomal_RNA_processing|ENST00000335214|protein_coding|14/15|c.1668+26T>C||||||,G|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000402369|protein_coding||c.-123T>C|||||4233|,G|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000406361|protein_coding||c.-242T>C|||||4224|,G|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000431313|protein_coding||c.-56T>C|||||4300|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay||n.*78T>C|||||2523|,G|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|14/14|c.1683+26T>C||||||,G|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|16/16|c.1266+26T>C||||||,G|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000441668|protein_coding|3/3|c.498+26T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|16/16|c.1266+26T>C||||||,G|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000488719|retained_intron|1/1|n.1238+26T>C||||||,G|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|14/14|c.1632+26T>C||||||,G|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|14/14|c.1668+26T>C|||||| 22 30975026 . C T . . ANN=T|sequence_feature|LOW|PES1|ENSG00000100029|compositionally_biased_region:Glu-rich|ENST00000354694|protein_coding|13/15|c.1522-41G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|compositionally_biased_region:Glu-rich|ENST00000354694|protein_coding|14/15|c.1522-41G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|compositionally_biased_region:Glu-rich|ENST00000335214|protein_coding|13/15|c.1507-41G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|compositionally_biased_region:Glu-rich|ENST00000335214|protein_coding|14/15|c.1507-41G>A||||||,T|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000402369|protein_coding||c.-123G>A|||||4461|,T|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000406361|protein_coding||c.-242G>A|||||4452|,T|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000431313|protein_coding||c.-56G>A|||||4528|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay||n.*78G>A|||||2295|,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|13/14|c.1522-41G>A||||||,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|15/16|c.1105-41G>A||||||,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000441668|protein_coding|2/3|c.340-44G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|15/16|c.1105-41G>A||||||,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|13/14|c.1471-41G>A||||||,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|13/14|c.1507-41G>A||||||,T|non_coding_exon_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000488719|retained_intron|1/2|n.1036G>A|||||| 22 30975119 . C A . . ANN=A|splice_region_variant&intron_variant|LOW|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|13/14|c.1521+5G>T||||||,A|splice_region_variant&intron_variant|LOW|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|15/16|c.1104+5G>T||||||,A|splice_region_variant&intron_variant|LOW|PES1|ENSG00000100029|transcript|ENST00000441668|protein_coding|2/3|c.339+5G>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|splice_region_variant&intron_variant|LOW|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|15/16|c.1104+5G>T||||||,A|splice_region_variant&intron_variant|LOW|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|13/14|c.1470+5G>T||||||,A|splice_region_variant&intron_variant|LOW|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|13/14|c.1506+5G>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|compositionally_biased_region:Glu-rich|ENST00000354694|protein_coding|13/15|c.1521+5G>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|compositionally_biased_region:Glu-rich|ENST00000354694|protein_coding|14/15|c.1521+5G>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|compositionally_biased_region:Glu-rich|ENST00000335214|protein_coding|13/15|c.1506+5G>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|compositionally_biased_region:Glu-rich|ENST00000335214|protein_coding|14/15|c.1506+5G>T||||||,A|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000402369|protein_coding||c.-123G>T|||||4554|,A|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000406361|protein_coding||c.-242G>T|||||4545|,A|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000431313|protein_coding||c.-56G>T|||||4621|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay||n.*78G>T|||||2202|,A|non_coding_exon_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000488719|retained_intron|1/2|n.943G>T|||||| 22 30975162 . G C . . ANN=C|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|13/15|c.1483C>G|p.Arg495Gly|1590/2295|1483/1767|495/588||,C|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|15/17|c.1066C>G|p.Arg356Gly|2058/2760|1066/1350|356/449||,C|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000441668|protein_coding|2/4|c.301C>G|p.Arg101Gly|302/999|301/582|101/193||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|15/17|c.1066C>G|p.Arg356Gly|2010/2708|1066/1350|356/449||,C|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|13/15|c.1432C>G|p.Arg478Gly|1479/2144|1432/1716|478/571||,C|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|13/15|c.1468C>G|p.Arg490Gly|1493/1988|1468/1752|490/583||,C|sequence_feature|LOW|PES1|ENSG00000100029|compositionally_biased_region:Glu-rich|ENST00000354694|protein_coding|13/15|c.1483C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|compositionally_biased_region:Glu-rich|ENST00000354694|protein_coding|14/15|c.1483C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|compositionally_biased_region:Glu-rich|ENST00000335214|protein_coding|13/15|c.1468C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|compositionally_biased_region:Glu-rich|ENST00000335214|protein_coding|14/15|c.1468C>G||||||,C|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000402369|protein_coding||c.-123C>G|||||4597|,C|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000406361|protein_coding||c.-242C>G|||||4588|,C|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000431313|protein_coding||c.-56C>G|||||4664|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay||n.*78C>G|||||2159|,C|non_coding_exon_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000488719|retained_intron|1/2|n.900C>G|||||| 22 30975199 . TTCC T . . ANN=|disruptive_inframe_deletion|MODERATE|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|13/15|c.1443_1445delGGA|p.Glu482del|1552/2295|1443/1767|481/588||,|disruptive_inframe_deletion|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|15/17|c.1026_1028delGGA|p.Glu343del|2020/2760|1026/1350|342/449||,|disruptive_inframe_deletion|MODERATE|PES1|ENSG00000100029|transcript|ENST00000441668|protein_coding|2/4|c.261_263delGGA|p.Glu88del|264/999|261/582|87/193||WARNING_TRANSCRIPT_NO_START_CODON,|disruptive_inframe_deletion|MODERATE|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|15/17|c.1026_1028delGGA|p.Glu343del|1972/2708|1026/1350|342/449||,|disruptive_inframe_deletion|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|13/15|c.1392_1394delGGA|p.Glu465del|1441/2144|1392/1716|464/571||,|disruptive_inframe_deletion|MODERATE|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|13/15|c.1428_1430delGGA|p.Glu477del|1455/1988|1428/1752|476/583||,|sequence_feature|LOW|PES1|ENSG00000100029|compositionally_biased_region:Glu-rich|ENST00000354694|protein_coding|13/15|c.1443_1445delGGA||||||,|sequence_feature|LOW|PES1|ENSG00000100029|compositionally_biased_region:Glu-rich|ENST00000354694|protein_coding|14/15|c.1443_1445delGGA||||||,|sequence_feature|LOW|PES1|ENSG00000100029|compositionally_biased_region:Glu-rich|ENST00000335214|protein_coding|13/15|c.1428_1430delGGA||||||,|sequence_feature|LOW|PES1|ENSG00000100029|compositionally_biased_region:Glu-rich|ENST00000335214|protein_coding|14/15|c.1428_1430delGGA||||||,|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000402369|protein_coding||c.-123_-123delGGA|||||4635|,|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000406361|protein_coding||c.-242_-242delGGA|||||4626|,|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000431313|protein_coding||c.-56_-56delGGA|||||4702|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay||n.*78_*78delGGA|||||2121|,|non_coding_exon_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000488719|retained_intron|1/2|n.860_862delGGA|||||| 22 30975286 . G C . . ANN=C|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|13/15|c.1359C>G|p.Asn453Lys|1466/2295|1359/1767|453/588||,C|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|15/17|c.942C>G|p.Asn314Lys|1934/2760|942/1350|314/449||,C|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000441668|protein_coding|2/4|c.177C>G|p.Asn59Lys|178/999|177/582|59/193||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|15/17|c.942C>G|p.Asn314Lys|1886/2708|942/1350|314/449||,C|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|13/15|c.1308C>G|p.Asn436Lys|1355/2144|1308/1716|436/571||,C|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|13/15|c.1344C>G|p.Asn448Lys|1369/1988|1344/1752|448/583||,C|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000402369|protein_coding||c.-123C>G|||||4721|,C|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000406361|protein_coding||c.-242C>G|||||4712|,C|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000431313|protein_coding||c.-56C>G|||||4788|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay||n.*78C>G|||||2035|,C|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000477762|retained_intron||n.*513C>G|||||4928|,C|non_coding_exon_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000488719|retained_intron|1/2|n.776C>G|||||| 22 30975327 . T G . . ANN=G|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000402369|protein_coding||c.-123A>C|||||4762|,G|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000406361|protein_coding||c.-242A>C|||||4753|,G|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000431313|protein_coding||c.-56A>C|||||4829|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay||n.*78A>C|||||1994|,G|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000477762|retained_intron||n.*513A>C|||||4887|,G|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|12/14|c.1355-37A>C||||||,G|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|14/16|c.938-37A>C||||||,G|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000441668|protein_coding|1/3|c.173-37A>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|14/16|c.938-37A>C||||||,G|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|12/14|c.1304-37A>C||||||,G|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|12/14|c.1340-37A>C||||||,G|non_coding_exon_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000488719|retained_intron|1/2|n.735A>C|||||| 22 30975706 . G A . . ANN=A|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay||n.*78C>T|||||1615|,A|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000477762|retained_intron||n.*513C>T|||||4508|,A|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|12/14|c.1354+32C>T||||||,A|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|14/16|c.937+32C>T||||||,A|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000441668|protein_coding|1/3|c.172+32C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|14/16|c.937+32C>T||||||,A|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|12/14|c.1303+32C>T||||||,A|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|12/14|c.1339+32C>T||||||,A|non_coding_exon_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000488719|retained_intron|1/2|n.356C>T|||||| 22 30975789 . C T . . ANN=T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|12/15|c.1303G>A|p.Val435Ile|1410/2295|1303/1767|435/588||,T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|14/17|c.886G>A|p.Val296Ile|1878/2760|886/1350|296/449||,T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000441668|protein_coding|1/4|c.121G>A|p.Val41Ile|122/999|121/582|41/193||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|14/17|c.886G>A|p.Val296Ile|1830/2708|886/1350|296/449||,T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|12/15|c.1252G>A|p.Val418Ile|1299/2144|1252/1716|418/571||,T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|12/15|c.1288G>A|p.Val430Ile|1313/1988|1288/1752|430/583||,T|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay||n.*78G>A|||||1532|,T|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000477762|retained_intron||n.*513G>A|||||4425|,T|non_coding_exon_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000488719|retained_intron|1/2|n.273G>A|||||| 22 30975861 . C T . . ANN=T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|12/15|c.1231G>A|p.Ala411Thr|1338/2295|1231/1767|411/588||,T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|14/17|c.814G>A|p.Ala272Thr|1806/2760|814/1350|272/449||,T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000441668|protein_coding|1/4|c.49G>A|p.Ala17Thr|50/999|49/582|17/193||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|14/17|c.814G>A|p.Ala272Thr|1758/2708|814/1350|272/449||,T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|12/15|c.1180G>A|p.Ala394Thr|1227/2144|1180/1716|394/571||,T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|12/15|c.1216G>A|p.Ala406Thr|1241/1988|1216/1752|406/583||,T|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000354694|protein_coding|11/15|c.1231G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000354694|protein_coding|10/15|c.1231G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000354694|protein_coding|12/15|c.1231G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_interaction_with_MAP1B|ENST00000354694|protein_coding|11/15|c.1231G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_interaction_with_MAP1B|ENST00000354694|protein_coding|10/15|c.1231G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_interaction_with_MAP1B|ENST00000354694|protein_coding|12/15|c.1231G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|turn|ENST00000354694|protein_coding|12/15|c.1231G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000335214|protein_coding|10/15|c.1216G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000335214|protein_coding|11/15|c.1216G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000335214|protein_coding|12/15|c.1216G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|turn|ENST00000335214|protein_coding|12/15|c.1216G>A||||||,T|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay||n.*78G>A|||||1460|,T|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000477762|retained_intron||n.*513G>A|||||4353|,T|non_coding_exon_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000488719|retained_intron|1/2|n.201G>A|||||| 22 30975864 . C T . . ANN=T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|12/15|c.1228G>A|p.Val410Met|1335/2295|1228/1767|410/588||,T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|14/17|c.811G>A|p.Val271Met|1803/2760|811/1350|271/449||,T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000441668|protein_coding|1/4|c.46G>A|p.Val16Met|47/999|46/582|16/193||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|14/17|c.811G>A|p.Val271Met|1755/2708|811/1350|271/449||,T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|12/15|c.1177G>A|p.Val393Met|1224/2144|1177/1716|393/571||,T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|12/15|c.1213G>A|p.Val405Met|1238/1988|1213/1752|405/583||,T|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000354694|protein_coding|11/15|c.1228G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000354694|protein_coding|10/15|c.1228G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000354694|protein_coding|12/15|c.1228G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_interaction_with_MAP1B|ENST00000354694|protein_coding|11/15|c.1228G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_interaction_with_MAP1B|ENST00000354694|protein_coding|10/15|c.1228G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_interaction_with_MAP1B|ENST00000354694|protein_coding|12/15|c.1228G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|turn|ENST00000354694|protein_coding|12/15|c.1228G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000335214|protein_coding|10/15|c.1213G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000335214|protein_coding|11/15|c.1213G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000335214|protein_coding|12/15|c.1213G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|turn|ENST00000335214|protein_coding|12/15|c.1213G>A||||||,T|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay||n.*78G>A|||||1457|,T|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000477762|retained_intron||n.*513G>A|||||4350|,T|non_coding_exon_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000488719|retained_intron|1/2|n.198G>A|||||| 22 30975865 . G A . . ANN=A|synonymous_variant|LOW|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|12/15|c.1227C>T|p.Pro409Pro|1334/2295|1227/1767|409/588||,A|synonymous_variant|LOW|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|14/17|c.810C>T|p.Pro270Pro|1802/2760|810/1350|270/449||,A|synonymous_variant|LOW|PES1|ENSG00000100029|transcript|ENST00000441668|protein_coding|1/4|c.45C>T|p.Pro15Pro|46/999|45/582|15/193||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|14/17|c.810C>T|p.Pro270Pro|1754/2708|810/1350|270/449||,A|synonymous_variant|LOW|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|12/15|c.1176C>T|p.Pro392Pro|1223/2144|1176/1716|392/571||,A|synonymous_variant|LOW|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|12/15|c.1212C>T|p.Pro404Pro|1237/1988|1212/1752|404/583||,A|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000354694|protein_coding|11/15|c.1227C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000354694|protein_coding|10/15|c.1227C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000354694|protein_coding|12/15|c.1227C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_interaction_with_MAP1B|ENST00000354694|protein_coding|11/15|c.1227C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_interaction_with_MAP1B|ENST00000354694|protein_coding|10/15|c.1227C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_interaction_with_MAP1B|ENST00000354694|protein_coding|12/15|c.1227C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000335214|protein_coding|10/15|c.1212C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000335214|protein_coding|11/15|c.1212C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000335214|protein_coding|12/15|c.1212C>T||||||,A|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay||n.*78C>T|||||1456|,A|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000477762|retained_intron||n.*513C>T|||||4349|,A|non_coding_exon_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000488719|retained_intron|1/2|n.197C>T|||||| 22 30975882 . C T . . ANN=T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|12/15|c.1210G>A|p.Ala404Thr|1317/2295|1210/1767|404/588||,T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|14/17|c.793G>A|p.Ala265Thr|1785/2760|793/1350|265/449||,T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000441668|protein_coding|1/4|c.28G>A|p.Ala10Thr|29/999|28/582|10/193||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|14/17|c.793G>A|p.Ala265Thr|1737/2708|793/1350|265/449||,T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|12/15|c.1159G>A|p.Ala387Thr|1206/2144|1159/1716|387/571||,T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|12/15|c.1195G>A|p.Ala399Thr|1220/1988|1195/1752|399/583||,T|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000354694|protein_coding|11/15|c.1210G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000354694|protein_coding|10/15|c.1210G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000354694|protein_coding|12/15|c.1210G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_interaction_with_MAP1B|ENST00000354694|protein_coding|11/15|c.1210G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_interaction_with_MAP1B|ENST00000354694|protein_coding|10/15|c.1210G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_interaction_with_MAP1B|ENST00000354694|protein_coding|12/15|c.1210G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|helix|ENST00000354694|protein_coding|12/15|c.1210G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000335214|protein_coding|10/15|c.1195G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000335214|protein_coding|11/15|c.1195G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000335214|protein_coding|12/15|c.1195G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|helix|ENST00000335214|protein_coding|12/15|c.1195G>A||||||,T|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay||n.*78G>A|||||1439|,T|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000477762|retained_intron||n.*513G>A|||||4332|,T|non_coding_exon_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000488719|retained_intron|1/2|n.180G>A|||||| 22 30976075 . G A . . ANN=A|synonymous_variant|LOW|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|11/15|c.1134C>T|p.Val378Val|1241/2295|1134/1767|378/588||,A|synonymous_variant|LOW|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|13/17|c.717C>T|p.Val239Val|1709/2760|717/1350|239/449||,A|synonymous_variant|LOW|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|13/17|c.717C>T|p.Val239Val|1661/2708|717/1350|239/449||,A|synonymous_variant|LOW|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|11/15|c.1083C>T|p.Val361Val|1130/2144|1083/1716|361/571||,A|synonymous_variant|LOW|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|11/15|c.1119C>T|p.Val373Val|1144/1988|1119/1752|373/583||,A|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000354694|protein_coding|11/15|c.1134C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000354694|protein_coding|10/15|c.1134C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000354694|protein_coding|12/15|c.1134C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_interaction_with_MAP1B|ENST00000354694|protein_coding|11/15|c.1134C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_interaction_with_MAP1B|ENST00000354694|protein_coding|10/15|c.1134C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_interaction_with_MAP1B|ENST00000354694|protein_coding|12/15|c.1134C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000335214|protein_coding|10/15|c.1119C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000335214|protein_coding|11/15|c.1119C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000335214|protein_coding|12/15|c.1119C>T||||||,A|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000441668|protein_coding||c.-2C>T|||||165|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000488719|retained_intron||n.-1C>T|||||14|,A|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay||n.*78C>T|||||1246|,A|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000477762|retained_intron||n.*513C>T|||||4139| 22 30976107 . C T . . ANN=T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|11/15|c.1102G>A|p.Val368Ile|1209/2295|1102/1767|368/588||,T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|13/17|c.685G>A|p.Val229Ile|1677/2760|685/1350|229/449||,T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|13/17|c.685G>A|p.Val229Ile|1629/2708|685/1350|229/449||,T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|11/15|c.1051G>A|p.Val351Ile|1098/2144|1051/1716|351/571||,T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|11/15|c.1087G>A|p.Val363Ile|1112/1988|1087/1752|363/583||,T|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000354694|protein_coding|11/15|c.1102G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000354694|protein_coding|10/15|c.1102G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000354694|protein_coding|12/15|c.1102G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_interaction_with_MAP1B|ENST00000354694|protein_coding|11/15|c.1102G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_interaction_with_MAP1B|ENST00000354694|protein_coding|10/15|c.1102G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_interaction_with_MAP1B|ENST00000354694|protein_coding|12/15|c.1102G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000335214|protein_coding|10/15|c.1087G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000335214|protein_coding|11/15|c.1087G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000335214|protein_coding|12/15|c.1087G>A||||||,T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000441668|protein_coding||c.-2G>A|||||197|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000488719|retained_intron||n.-1G>A|||||46|,T|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay||n.*78G>A|||||1214|,T|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000477762|retained_intron||n.*513G>A|||||4107| 22 30976109 . T A . . ANN=A|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|11/15|c.1100A>T|p.Asp367Val|1207/2295|1100/1767|367/588||,A|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|13/17|c.683A>T|p.Asp228Val|1675/2760|683/1350|228/449||,A|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|13/17|c.683A>T|p.Asp228Val|1627/2708|683/1350|228/449||,A|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|11/15|c.1049A>T|p.Asp350Val|1096/2144|1049/1716|350/571||,A|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|11/15|c.1085A>T|p.Asp362Val|1110/1988|1085/1752|362/583||,A|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000354694|protein_coding|11/15|c.1100A>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000354694|protein_coding|10/15|c.1100A>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000354694|protein_coding|12/15|c.1100A>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_interaction_with_MAP1B|ENST00000354694|protein_coding|11/15|c.1100A>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_interaction_with_MAP1B|ENST00000354694|protein_coding|10/15|c.1100A>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_interaction_with_MAP1B|ENST00000354694|protein_coding|12/15|c.1100A>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000335214|protein_coding|10/15|c.1085A>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000335214|protein_coding|11/15|c.1085A>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000335214|protein_coding|12/15|c.1085A>T||||||,A|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000441668|protein_coding||c.-2A>T|||||199|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000488719|retained_intron||n.-1A>T|||||48|,A|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay||n.*78A>T|||||1212|,A|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000477762|retained_intron||n.*513A>T|||||4105| 22 30976190 . C T . . ANN=T|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000354694|protein_coding|11/15|c.1044-25G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000354694|protein_coding|10/15|c.1044-25G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000354694|protein_coding|12/15|c.1044-25G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_interaction_with_MAP1B|ENST00000354694|protein_coding|11/15|c.1044-25G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_interaction_with_MAP1B|ENST00000354694|protein_coding|10/15|c.1044-25G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_interaction_with_MAP1B|ENST00000354694|protein_coding|12/15|c.1044-25G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|helix|ENST00000354694|protein_coding|11/15|c.1044-25G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|helix|ENST00000354694|protein_coding|10/15|c.1044-25G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000335214|protein_coding|10/15|c.1029-25G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000335214|protein_coding|11/15|c.1029-25G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000335214|protein_coding|12/15|c.1029-25G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|helix|ENST00000335214|protein_coding|10/15|c.1029-25G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|helix|ENST00000335214|protein_coding|11/15|c.1029-25G>A||||||,T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000441668|protein_coding||c.-2G>A|||||280|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000488719|retained_intron||n.-1G>A|||||129|,T|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay||n.*78G>A|||||1131|,T|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000477762|retained_intron||n.*513G>A|||||4024|,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|10/14|c.1044-25G>A||||||,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|12/16|c.627-25G>A||||||,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|12/16|c.627-25G>A||||||,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|10/14|c.993-25G>A||||||,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|10/14|c.1029-25G>A|||||| 22 30976521 . G A . . ANN=A|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000354694|protein_coding|11/15|c.1043+37C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000354694|protein_coding|10/15|c.1043+37C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000354694|protein_coding|12/15|c.1043+37C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_interaction_with_MAP1B|ENST00000354694|protein_coding|11/15|c.1043+37C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_interaction_with_MAP1B|ENST00000354694|protein_coding|10/15|c.1043+37C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_interaction_with_MAP1B|ENST00000354694|protein_coding|12/15|c.1043+37C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|helix|ENST00000354694|protein_coding|11/15|c.1043+37C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|helix|ENST00000354694|protein_coding|10/15|c.1043+37C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000335214|protein_coding|10/15|c.1028+37C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000335214|protein_coding|11/15|c.1028+37C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000335214|protein_coding|12/15|c.1028+37C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|helix|ENST00000335214|protein_coding|10/15|c.1028+37C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|helix|ENST00000335214|protein_coding|11/15|c.1028+37C>T||||||,A|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000441668|protein_coding||c.-2C>T|||||611|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000488719|retained_intron||n.-1C>T|||||460|,A|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay||n.*78C>T|||||800|,A|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000477762|retained_intron||n.*513C>T|||||3693|,A|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000433575|processed_transcript||n.*560C>T|||||4690|,A|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|10/14|c.1043+37C>T||||||,A|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|12/16|c.626+37C>T||||||,A|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|12/16|c.626+37C>T||||||,A|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|10/14|c.992+37C>T||||||,A|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|10/14|c.1028+37C>T|||||| 22 30976572 . C A . . ANN=A|synonymous_variant|LOW|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|10/15|c.1029G>T|p.Leu343Leu|1136/2295|1029/1767|343/588||,A|synonymous_variant|LOW|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|12/17|c.612G>T|p.Leu204Leu|1604/2760|612/1350|204/449||,A|synonymous_variant|LOW|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|12/17|c.612G>T|p.Leu204Leu|1556/2708|612/1350|204/449||,A|synonymous_variant|LOW|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|10/15|c.978G>T|p.Leu326Leu|1025/2144|978/1716|326/571||,A|synonymous_variant|LOW|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|10/15|c.1014G>T|p.Leu338Leu|1039/1988|1014/1752|338/583||,A|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000354694|protein_coding|11/15|c.1029G>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000354694|protein_coding|10/15|c.1029G>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000354694|protein_coding|12/15|c.1029G>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_interaction_with_MAP1B|ENST00000354694|protein_coding|11/15|c.1029G>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_interaction_with_MAP1B|ENST00000354694|protein_coding|10/15|c.1029G>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_interaction_with_MAP1B|ENST00000354694|protein_coding|12/15|c.1029G>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|helix|ENST00000354694|protein_coding|11/15|c.1029G>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|helix|ENST00000354694|protein_coding|10/15|c.1029G>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000335214|protein_coding|10/15|c.1014G>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000335214|protein_coding|11/15|c.1014G>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000335214|protein_coding|12/15|c.1014G>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|helix|ENST00000335214|protein_coding|10/15|c.1014G>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|helix|ENST00000335214|protein_coding|11/15|c.1014G>T||||||,A|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000441668|protein_coding||c.-2G>T|||||662|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000488719|retained_intron||n.-1G>T|||||511|,A|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay||n.*78G>T|||||749|,A|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000477762|retained_intron||n.*513G>T|||||3642|,A|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000433575|processed_transcript||n.*560G>T|||||4639| 22 30976660 . C G . . ANN=G|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|10/15|c.941G>C|p.Arg314Thr|1048/2295|941/1767|314/588||,G|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|12/17|c.524G>C|p.Arg175Thr|1516/2760|524/1350|175/449||,G|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|12/17|c.524G>C|p.Arg175Thr|1468/2708|524/1350|175/449||,G|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|10/15|c.890G>C|p.Arg297Thr|937/2144|890/1716|297/571||,G|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|10/15|c.926G>C|p.Arg309Thr|951/1988|926/1752|309/583||,G|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_interaction_with_MAP1B|ENST00000354694|protein_coding|11/15|c.941G>C||||||,G|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_interaction_with_MAP1B|ENST00000354694|protein_coding|10/15|c.941G>C||||||,G|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_interaction_with_MAP1B|ENST00000354694|protein_coding|12/15|c.941G>C||||||,G|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000441668|protein_coding||c.-2G>C|||||750|WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000488719|retained_intron||n.-1G>C|||||599|,G|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay||n.*78G>C|||||661|,G|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000477762|retained_intron||n.*513G>C|||||3554|,G|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000433575|processed_transcript||n.*560G>C|||||4551| 22 30976704 . C T . . ANN=T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000441668|protein_coding||c.-2G>A|||||794|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000488719|retained_intron||n.-1G>A|||||643|,T|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay||n.*78G>A|||||617|,T|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000477762|retained_intron||n.*513G>A|||||3510|,T|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000433575|processed_transcript||n.*560G>A|||||4507|,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|9/14|c.913-16G>A||||||,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|11/16|c.496-16G>A||||||,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|11/16|c.496-16G>A||||||,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|9/14|c.862-16G>A||||||,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|9/14|c.913-31G>A|||||| 22 30976713 . G A . . ANN=A|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000441668|protein_coding||c.-2C>T|||||803|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000488719|retained_intron||n.-1C>T|||||652|,A|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay||n.*78C>T|||||608|,A|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000477762|retained_intron||n.*513C>T|||||3501|,A|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000433575|processed_transcript||n.*560C>T|||||4498|,A|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|9/14|c.913-25C>T||||||,A|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|11/16|c.496-25C>T||||||,A|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|11/16|c.496-25C>T||||||,A|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|9/14|c.862-25C>T||||||,A|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|9/14|c.913-40C>T|||||| 22 30977131 . C T . . ANN=T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000441668|protein_coding||c.-2G>A|||||1221|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000488719|retained_intron||n.-1G>A|||||1070|,T|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay||n.*78G>A|||||190|,T|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000477762|retained_intron||n.*513G>A|||||3083|,T|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000433575|processed_transcript||n.*560G>A|||||4080|,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|8/14|c.823-43G>A||||||,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|10/16|c.406-43G>A||||||,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|10/16|c.406-43G>A||||||,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|8/14|c.772-43G>A||||||,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|8/14|c.823-43G>A|||||| 22 30977277 . C T . . ANN=T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000441668|protein_coding||c.-2G>A|||||1367|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000488719|retained_intron||n.-1G>A|||||1216|,T|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay||n.*78G>A|||||44|,T|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000477762|retained_intron||n.*513G>A|||||2937|,T|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000433575|processed_transcript||n.*560G>A|||||3934|,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|8/14|c.822+44G>A||||||,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|10/16|c.405+44G>A||||||,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|10/16|c.405+44G>A||||||,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|8/14|c.771+44G>A||||||,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|8/14|c.822+44G>A|||||| 22 30977316 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|8/14|c.822+5G>A||||||,T|splice_region_variant&intron_variant|LOW|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|10/16|c.405+5G>A||||||,T|splice_region_variant&intron_variant|LOW|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|10/16|c.405+5G>A||||||,T|splice_region_variant&intron_variant|LOW|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|8/14|c.771+5G>A||||||,T|splice_region_variant&intron_variant|LOW|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|8/14|c.822+5G>A||||||,T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000441668|protein_coding||c.-2G>A|||||1406|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000488719|retained_intron||n.-1G>A|||||1255|,T|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay||n.*78G>A|||||5|,T|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000477762|retained_intron||n.*513G>A|||||2898|,T|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000433575|processed_transcript||n.*560G>A|||||3895| 22 30977353 . T A . . ANN=A|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|8/15|c.790A>T|p.Thr264Ser|897/2295|790/1767|264/588||,A|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|10/17|c.373A>T|p.Thr125Ser|1365/2760|373/1350|125/449||,A|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|10/17|c.373A>T|p.Thr125Ser|1317/2708|373/1350|125/449||,A|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|8/15|c.739A>T|p.Thr247Ser|786/2144|739/1716|247/571||,A|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|8/15|c.790A>T|p.Thr264Ser|815/1988|790/1752|264/583||,A|3_prime_UTR_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay|8/8|n.*761A>T|||||7900|,A|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000441668|protein_coding||c.-2A>T|||||1443|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000488719|retained_intron||n.-1A>T|||||1292|,A|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000477762|retained_intron||n.*513A>T|||||2861|,A|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000433575|processed_transcript||n.*560A>T|||||3858|,A|non_coding_exon_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay|8/8|n.*761A>T|||||| 22 30977410 . G T . . ANN=T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|2/15|c.748-15C>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|1/15|c.748-15C>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|4/15|c.748-15C>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|5/15|c.748-15C>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|6/15|c.748-15C>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|3/15|c.748-15C>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|8/15|c.748-15C>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|7/15|c.748-15C>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|2/15|c.748-15C>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|4/15|c.748-15C>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|1/15|c.748-15C>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|5/15|c.748-15C>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|6/15|c.748-15C>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|3/15|c.748-15C>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|8/15|c.748-15C>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|7/15|c.748-15C>A||||||,T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000441668|protein_coding||c.-2C>A|||||1500|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000488719|retained_intron||n.-1C>A|||||1349|,T|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000477762|retained_intron||n.*513C>A|||||2804|,T|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000433575|processed_transcript||n.*560C>A|||||3801|,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|7/14|c.748-15C>A||||||,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|9/16|c.331-15C>A||||||,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|9/16|c.331-15C>A||||||,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|7/14|c.697-15C>A||||||,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|7/14|c.748-15C>A||||||,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay|7/7|n.*719-15C>A|||||| 22 30977444 . C T . . ANN=T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|2/15|c.748-49G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|1/15|c.748-49G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|4/15|c.748-49G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|5/15|c.748-49G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|6/15|c.748-49G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|3/15|c.748-49G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|8/15|c.748-49G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|7/15|c.748-49G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|2/15|c.748-49G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|4/15|c.748-49G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|1/15|c.748-49G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|5/15|c.748-49G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|6/15|c.748-49G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|3/15|c.748-49G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|8/15|c.748-49G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|7/15|c.748-49G>A||||||,T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000441668|protein_coding||c.-2G>A|||||1534|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000488719|retained_intron||n.-1G>A|||||1383|,T|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000477762|retained_intron||n.*513G>A|||||2770|,T|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000433575|processed_transcript||n.*560G>A|||||3767|,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|7/14|c.748-49G>A||||||,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|9/16|c.331-49G>A||||||,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|9/16|c.331-49G>A||||||,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|7/14|c.697-49G>A||||||,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|7/14|c.748-49G>A||||||,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay|7/7|n.*719-49G>A|||||| 22 30977486 . G A . . ANN=A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|2/15|c.747+29C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|1/15|c.747+29C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|4/15|c.747+29C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|5/15|c.747+29C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|6/15|c.747+29C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|3/15|c.747+29C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|8/15|c.747+29C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|7/15|c.747+29C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|2/15|c.747+29C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|4/15|c.747+29C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|1/15|c.747+29C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|5/15|c.747+29C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|6/15|c.747+29C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|3/15|c.747+29C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|8/15|c.747+29C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|7/15|c.747+29C>T||||||,A|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000441668|protein_coding||c.-2C>T|||||1576|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000488719|retained_intron||n.-1C>T|||||1425|,A|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000477762|retained_intron||n.*513C>T|||||2728|,A|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000433575|processed_transcript||n.*560C>T|||||3725|,A|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|7/14|c.747+29C>T||||||,A|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|9/16|c.330+29C>T||||||,A|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|9/16|c.330+29C>T||||||,A|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|7/14|c.696+29C>T||||||,A|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|7/14|c.747+29C>T||||||,A|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay|7/7|n.*718+29C>T|||||| 22 30977576 . G A . . ANN=A|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|7/15|c.686C>T|p.Thr229Met|793/2295|686/1767|229/588||,A|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|9/17|c.269C>T|p.Thr90Met|1261/2760|269/1350|90/449||,A|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|9/17|c.269C>T|p.Thr90Met|1213/2708|269/1350|90/449||,A|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|7/15|c.635C>T|p.Thr212Met|682/2144|635/1716|212/571||,A|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|7/15|c.686C>T|p.Thr229Met|711/1988|686/1752|229/583||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|2/15|c.686C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|1/15|c.686C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|4/15|c.686C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|5/15|c.686C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|6/15|c.686C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|3/15|c.686C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|8/15|c.686C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|7/15|c.686C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|2/15|c.686C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|4/15|c.686C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|1/15|c.686C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|5/15|c.686C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|6/15|c.686C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|3/15|c.686C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|8/15|c.686C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|7/15|c.686C>T||||||,A|3_prime_UTR_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay|7/8|n.*657C>T|||||7677|,A|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000441668|protein_coding||c.-2C>T|||||1666|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000488719|retained_intron||n.-1C>T|||||1515|,A|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000477762|retained_intron||n.*513C>T|||||2638|,A|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000433575|processed_transcript||n.*560C>T|||||3635|,A|non_coding_exon_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay|7/8|n.*657C>T|||||| 22 30977634 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|6/14|c.631-3C>T||||||,A|splice_region_variant&intron_variant|LOW|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|8/16|c.214-3C>T||||||,A|splice_region_variant&intron_variant|LOW|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|8/16|c.214-3C>T||||||,A|splice_region_variant&intron_variant|LOW|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|6/14|c.580-3C>T||||||,A|splice_region_variant&intron_variant|LOW|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|6/14|c.631-3C>T||||||,A|splice_region_variant&intron_variant|LOW|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay|6/7|n.*602-3C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|2/15|c.631-3C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|1/15|c.631-3C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|4/15|c.631-3C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|5/15|c.631-3C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|6/15|c.631-3C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|3/15|c.631-3C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|8/15|c.631-3C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|7/15|c.631-3C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|2/15|c.631-3C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|4/15|c.631-3C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|1/15|c.631-3C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|5/15|c.631-3C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|6/15|c.631-3C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|3/15|c.631-3C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|8/15|c.631-3C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|7/15|c.631-3C>T||||||,A|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000441668|protein_coding||c.-2C>T|||||1724|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000488719|retained_intron||n.-1C>T|||||1573|,A|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000477762|retained_intron||n.*513C>T|||||2580|,A|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000433575|processed_transcript||n.*560C>T|||||3577| 22 30980358 . G A . . ANN=A|synonymous_variant|LOW|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|6/15|c.624C>T|p.Ser208Ser|731/2295|624/1767|208/588||,A|synonymous_variant|LOW|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|8/17|c.207C>T|p.Ser69Ser|1199/2760|207/1350|69/449||,A|synonymous_variant|LOW|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|8/17|c.207C>T|p.Ser69Ser|1151/2708|207/1350|69/449||,A|synonymous_variant|LOW|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|6/15|c.624C>T|p.Ser208Ser|649/1988|624/1752|208/583||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|2/15|c.624C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|1/15|c.624C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|4/15|c.624C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|5/15|c.624C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|6/15|c.624C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|3/15|c.624C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|8/15|c.624C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|7/15|c.624C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|2/15|c.624C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|4/15|c.624C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|1/15|c.624C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|5/15|c.624C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|6/15|c.624C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|3/15|c.624C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|8/15|c.624C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|7/15|c.624C>T||||||,A|3_prime_UTR_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay|6/8|n.*595C>T|||||4895|,A|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000441668|protein_coding||c.-2C>T|||||4448|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000488719|retained_intron||n.-1C>T|||||4297|,A|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000433575|processed_transcript||n.*560C>T|||||853|,A|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000466614|retained_intron||n.*713C>T|||||2627|,A|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|6/14|c.579+45C>T||||||,A|non_coding_exon_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay|6/8|n.*595C>T||||||,A|non_coding_exon_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000477762|retained_intron|4/4|n.369C>T|||||| 22 30980446 . G C . . ANN=C|splice_region_variant&intron_variant|LOW|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|5/14|c.541-5C>G||||||,C|splice_region_variant&intron_variant|LOW|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|7/16|c.124-5C>G||||||,C|splice_region_variant&intron_variant|LOW|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|7/16|c.124-5C>G||||||,C|splice_region_variant&intron_variant|LOW|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|5/14|c.541-5C>G||||||,C|splice_region_variant&intron_variant|LOW|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|5/14|c.541-5C>G||||||,C|splice_region_variant&intron_variant|LOW|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay|5/7|n.*512-5C>G||||||,C|splice_region_variant&intron_variant|LOW|PES1|ENSG00000100029|transcript|ENST00000477762|retained_intron|3/3|n.286-5C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|2/15|c.541-5C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|1/15|c.541-5C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|4/15|c.541-5C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|5/15|c.541-5C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|6/15|c.541-5C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|3/15|c.541-5C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|8/15|c.541-5C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|7/15|c.541-5C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|2/15|c.541-5C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|4/15|c.541-5C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|1/15|c.541-5C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|5/15|c.541-5C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|6/15|c.541-5C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|3/15|c.541-5C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|8/15|c.541-5C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|7/15|c.541-5C>G||||||,C|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000441668|protein_coding||c.-2C>G|||||4536|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000488719|retained_intron||n.-1C>G|||||4385|,C|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000433575|processed_transcript||n.*560C>G|||||765|,C|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000466614|retained_intron||n.*713C>G|||||2539| 22 30980503 . G C . . ANN=C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|2/15|c.540+30C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|1/15|c.540+30C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|4/15|c.540+30C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|5/15|c.540+30C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|6/15|c.540+30C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|3/15|c.540+30C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|8/15|c.540+30C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|7/15|c.540+30C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|2/15|c.540+30C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|4/15|c.540+30C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|1/15|c.540+30C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|5/15|c.540+30C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|6/15|c.540+30C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|3/15|c.540+30C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|8/15|c.540+30C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|7/15|c.540+30C>G||||||,C|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000441668|protein_coding||c.-2C>G|||||4593|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000488719|retained_intron||n.-1C>G|||||4442|,C|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000433575|processed_transcript||n.*560C>G|||||708|,C|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000466614|retained_intron||n.*713C>G|||||2482|,C|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|5/14|c.540+30C>G||||||,C|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|7/16|c.123+30C>G||||||,C|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|7/16|c.123+30C>G||||||,C|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|5/14|c.540+30C>G||||||,C|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|5/14|c.540+30C>G||||||,C|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay|5/7|n.*511+30C>G||||||,C|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000477762|retained_intron|3/3|n.285+30C>G|||||| 22 30980547 . G C . . ANN=C|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|5/15|c.526C>G|p.Arg176Gly|633/2295|526/1767|176/588||,C|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|7/17|c.109C>G|p.Arg37Gly|1101/2760|109/1350|37/449||,C|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|7/17|c.109C>G|p.Arg37Gly|1053/2708|109/1350|37/449||,C|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|5/15|c.526C>G|p.Arg176Gly|573/2144|526/1716|176/571||,C|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|5/15|c.526C>G|p.Arg176Gly|551/1988|526/1752|176/583||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|2/15|c.526C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|1/15|c.526C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|4/15|c.526C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|5/15|c.526C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|6/15|c.526C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|3/15|c.526C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|8/15|c.526C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|7/15|c.526C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|2/15|c.526C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|4/15|c.526C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|1/15|c.526C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|5/15|c.526C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|6/15|c.526C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|3/15|c.526C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|8/15|c.526C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|7/15|c.526C>G||||||,C|3_prime_UTR_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay|5/8|n.*497C>G|||||4706|,C|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000441668|protein_coding||c.-2C>G|||||4637|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000488719|retained_intron||n.-1C>G|||||4486|,C|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000433575|processed_transcript||n.*560C>G|||||664|,C|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000466614|retained_intron||n.*713C>G|||||2438|,C|non_coding_exon_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay|5/8|n.*497C>G||||||,C|non_coding_exon_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000477762|retained_intron|3/4|n.271C>G|||||| 22 30980610 . C T . . ANN=T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|5/15|c.463G>A|p.Val155Met|570/2295|463/1767|155/588||,T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|7/17|c.46G>A|p.Val16Met|1038/2760|46/1350|16/449||,T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|7/17|c.46G>A|p.Val16Met|990/2708|46/1350|16/449||,T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|5/15|c.463G>A|p.Val155Met|510/2144|463/1716|155/571||,T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|5/15|c.463G>A|p.Val155Met|488/1988|463/1752|155/583||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|2/15|c.463G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|1/15|c.463G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|4/15|c.463G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|5/15|c.463G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|6/15|c.463G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|3/15|c.463G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|8/15|c.463G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|7/15|c.463G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|2/15|c.463G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|4/15|c.463G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|1/15|c.463G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|5/15|c.463G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|6/15|c.463G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|3/15|c.463G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|8/15|c.463G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|7/15|c.463G>A||||||,T|3_prime_UTR_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay|5/8|n.*434G>A|||||4643|,T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000441668|protein_coding||c.-2G>A|||||4700|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000488719|retained_intron||n.-1G>A|||||4549|,T|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000433575|processed_transcript||n.*560G>A|||||601|,T|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000466614|retained_intron||n.*713G>A|||||2375|,T|non_coding_exon_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay|5/8|n.*434G>A||||||,T|non_coding_exon_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000477762|retained_intron|3/4|n.208G>A|||||| 22 30983970 . C T . . ANN=T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|2/15|c.258+38G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|1/15|c.258+38G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|4/15|c.258+38G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|5/15|c.258+38G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|6/15|c.258+38G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|3/15|c.258+38G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|8/15|c.258+38G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|7/15|c.258+38G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|2/15|c.258+38G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|4/15|c.258+38G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|1/15|c.258+38G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|5/15|c.258+38G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|6/15|c.258+38G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|3/15|c.258+38G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|8/15|c.258+38G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|7/15|c.258+38G>A||||||,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|3/14|c.258+38G>A||||||,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|5/16|c.-160+38G>A||||||,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|5/16|c.-160+38G>A||||||,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|3/14|c.258+38G>A||||||,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|3/14|c.258+38G>A||||||,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay|3/7|n.*229+38G>A||||||,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000477762|retained_intron|1/3|n.3+38G>A||||||,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000433575|processed_transcript|3/4|n.303+38G>A||||||,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000466614|retained_intron|3/3|n.315+38G>A|||||| 22 30983971 . G A . . ANN=A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|2/15|c.258+37C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|1/15|c.258+37C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|4/15|c.258+37C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|5/15|c.258+37C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|6/15|c.258+37C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|3/15|c.258+37C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|8/15|c.258+37C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|7/15|c.258+37C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|2/15|c.258+37C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|4/15|c.258+37C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|1/15|c.258+37C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|5/15|c.258+37C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|6/15|c.258+37C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|3/15|c.258+37C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|8/15|c.258+37C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|7/15|c.258+37C>T||||||,A|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|3/14|c.258+37C>T||||||,A|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|5/16|c.-160+37C>T||||||,A|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|5/16|c.-160+37C>T||||||,A|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|3/14|c.258+37C>T||||||,A|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|3/14|c.258+37C>T||||||,A|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay|3/7|n.*229+37C>T||||||,A|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000477762|retained_intron|1/3|n.3+37C>T||||||,A|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000433575|processed_transcript|3/4|n.303+37C>T||||||,A|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000466614|retained_intron|3/3|n.315+37C>T|||||| 22 30984027 . T C . . ANN=C|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|3/15|c.239A>G|p.Asn80Ser|346/2295|239/1767|80/588||,C|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|3/15|c.239A>G|p.Asn80Ser|286/2144|239/1716|80/571||,C|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|3/15|c.239A>G|p.Asn80Ser|264/1988|239/1752|80/583||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|2/15|c.239A>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|1/15|c.239A>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|4/15|c.239A>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|5/15|c.239A>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|6/15|c.239A>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|3/15|c.239A>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|8/15|c.239A>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|7/15|c.239A>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|2/15|c.239A>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|4/15|c.239A>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|1/15|c.239A>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|5/15|c.239A>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|6/15|c.239A>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|3/15|c.239A>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|8/15|c.239A>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|7/15|c.239A>G||||||,C|5_prime_UTR_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|5/17|c.-179A>G|||||3372|,C|5_prime_UTR_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|5/17|c.-179A>G|||||3372|,C|3_prime_UTR_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay|3/8|n.*210A>G|||||1226|,C|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000477762|retained_intron||n.-1A>G|||||17|,C|non_coding_exon_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay|3/8|n.*210A>G||||||,C|non_coding_exon_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000433575|processed_transcript|3/5|n.284A>G||||||,C|non_coding_exon_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000466614|retained_intron|3/4|n.296A>G|||||| 22 30984170 . C T . . ANN=T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|2/15|c.105-9G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|1/15|c.105-9G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|4/15|c.105-9G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|5/15|c.105-9G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|6/15|c.105-9G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|3/15|c.105-9G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|8/15|c.105-9G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|7/15|c.105-9G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Required_for_28S_ribosomal_RNA_processing|ENST00000354694|protein_coding|2/15|c.105-9G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Required_for_28S_ribosomal_RNA_processing|ENST00000354694|protein_coding|1/15|c.105-9G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Required_for_28S_ribosomal_RNA_processing|ENST00000354694|protein_coding|3/15|c.105-9G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|2/15|c.105-9G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|4/15|c.105-9G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|1/15|c.105-9G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|5/15|c.105-9G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|6/15|c.105-9G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|3/15|c.105-9G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|8/15|c.105-9G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|7/15|c.105-9G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Required_for_28S_ribosomal_RNA_processing|ENST00000335214|protein_coding|2/15|c.105-9G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Required_for_28S_ribosomal_RNA_processing|ENST00000335214|protein_coding|1/15|c.105-9G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Required_for_28S_ribosomal_RNA_processing|ENST00000335214|protein_coding|3/15|c.105-9G>A||||||,T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000477762|retained_intron||n.-1G>A|||||160|,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|2/14|c.105-9G>A||||||,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|4/16|c.-313-9G>A||||||,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|4/16|c.-313-9G>A||||||,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|2/14|c.105-9G>A||||||,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|2/14|c.105-9G>A||||||,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay|2/7|n.*76-9G>A||||||,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000433575|processed_transcript|2/4|n.150-9G>A||||||,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000466614|retained_intron|2/3|n.162-9G>A|||||| 22 30985251 . G A . . ANN=A|stop_gained|HIGH|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|2/15|c.31C>T|p.Arg11*|138/2295|31/1767|11/588||,A|stop_gained|HIGH|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|2/15|c.31C>T|p.Arg11*|78/2144|31/1716|11/571||,A|stop_gained|HIGH|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|2/15|c.31C>T|p.Arg11*|56/1988|31/1752|11/583||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|4/17|c.-387C>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|4/17|c.-387C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|2/15|c.31C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|1/15|c.31C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|4/15|c.31C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|5/15|c.31C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|6/15|c.31C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|3/15|c.31C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|8/15|c.31C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|7/15|c.31C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Required_for_28S_ribosomal_RNA_processing|ENST00000354694|protein_coding|2/15|c.31C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Required_for_28S_ribosomal_RNA_processing|ENST00000354694|protein_coding|1/15|c.31C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Required_for_28S_ribosomal_RNA_processing|ENST00000354694|protein_coding|3/15|c.31C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|2/15|c.31C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|4/15|c.31C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|1/15|c.31C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|5/15|c.31C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|6/15|c.31C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|3/15|c.31C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|8/15|c.31C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|7/15|c.31C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Required_for_28S_ribosomal_RNA_processing|ENST00000335214|protein_coding|2/15|c.31C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Required_for_28S_ribosomal_RNA_processing|ENST00000335214|protein_coding|1/15|c.31C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Required_for_28S_ribosomal_RNA_processing|ENST00000335214|protein_coding|3/15|c.31C>T||||||,A|5_prime_UTR_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|4/17|c.-387C>T|||||4596|,A|5_prime_UTR_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|4/17|c.-387C>T|||||4596|,A|3_prime_UTR_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay|2/8|n.*2C>T|||||2|,A|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000477762|retained_intron||n.-1C>T|||||1241|,A|non_coding_exon_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay|2/8|n.*2C>T||||||,A|non_coding_exon_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000433575|processed_transcript|2/5|n.76C>T||||||,A|non_coding_exon_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000466614|retained_intron|2/4|n.88C>T||||||;LOF=(PES1|ENSG00000100029|13|0.23);NMD=(PES1|ENSG00000100029|13|0.23) 22 30987750 . C A . . ANN=A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|2/15|c.24+47G>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|1/15|c.24+47G>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|4/15|c.24+47G>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|5/15|c.24+47G>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|6/15|c.24+47G>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|3/15|c.24+47G>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|8/15|c.24+47G>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|7/15|c.24+47G>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Required_for_28S_ribosomal_RNA_processing|ENST00000354694|protein_coding|2/15|c.24+47G>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Required_for_28S_ribosomal_RNA_processing|ENST00000354694|protein_coding|1/15|c.24+47G>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Required_for_28S_ribosomal_RNA_processing|ENST00000354694|protein_coding|3/15|c.24+47G>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|2/15|c.24+47G>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|4/15|c.24+47G>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|1/15|c.24+47G>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|5/15|c.24+47G>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|6/15|c.24+47G>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|3/15|c.24+47G>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|8/15|c.24+47G>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|7/15|c.24+47G>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Required_for_28S_ribosomal_RNA_processing|ENST00000335214|protein_coding|2/15|c.24+47G>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Required_for_28S_ribosomal_RNA_processing|ENST00000335214|protein_coding|1/15|c.24+47G>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Required_for_28S_ribosomal_RNA_processing|ENST00000335214|protein_coding|3/15|c.24+47G>T||||||,A|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000477762|retained_intron||n.-1G>T|||||3740|,A|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|1/14|c.24+47G>T||||||,A|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|3/16|c.-394+369G>T||||||,A|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|3/16|c.-394+369G>T||||||,A|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|1/14|c.24+47G>T||||||,A|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|1/14|c.24+47G>T||||||,A|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay|1/7|n.40+31G>T||||||,A|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000433575|processed_transcript|1/4|n.69+47G>T||||||,A|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000466614|retained_intron|1/3|n.81+47G>T|||||| 22 30987759 . C G . . ANN=G|TF_binding_site_variant|LOW|||SP1|MA0079.1|||||||||,G|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|2/15|c.24+38G>C||||||,G|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|1/15|c.24+38G>C||||||,G|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|4/15|c.24+38G>C||||||,G|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|5/15|c.24+38G>C||||||,G|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|6/15|c.24+38G>C||||||,G|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|3/15|c.24+38G>C||||||,G|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|8/15|c.24+38G>C||||||,G|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|7/15|c.24+38G>C||||||,G|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Required_for_28S_ribosomal_RNA_processing|ENST00000354694|protein_coding|2/15|c.24+38G>C||||||,G|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Required_for_28S_ribosomal_RNA_processing|ENST00000354694|protein_coding|1/15|c.24+38G>C||||||,G|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Required_for_28S_ribosomal_RNA_processing|ENST00000354694|protein_coding|3/15|c.24+38G>C||||||,G|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|2/15|c.24+38G>C||||||,G|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|4/15|c.24+38G>C||||||,G|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|1/15|c.24+38G>C||||||,G|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|5/15|c.24+38G>C||||||,G|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|6/15|c.24+38G>C||||||,G|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|3/15|c.24+38G>C||||||,G|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|8/15|c.24+38G>C||||||,G|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|7/15|c.24+38G>C||||||,G|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Required_for_28S_ribosomal_RNA_processing|ENST00000335214|protein_coding|2/15|c.24+38G>C||||||,G|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Required_for_28S_ribosomal_RNA_processing|ENST00000335214|protein_coding|1/15|c.24+38G>C||||||,G|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Required_for_28S_ribosomal_RNA_processing|ENST00000335214|protein_coding|3/15|c.24+38G>C||||||,G|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000477762|retained_intron||n.-1G>C|||||3749|,G|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|1/14|c.24+38G>C||||||,G|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|3/16|c.-394+360G>C||||||,G|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|3/16|c.-394+360G>C||||||,G|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|1/14|c.24+38G>C||||||,G|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|1/14|c.24+38G>C||||||,G|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay|1/7|n.40+22G>C||||||,G|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000433575|processed_transcript|1/4|n.69+38G>C||||||,G|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000466614|retained_intron|1/3|n.81+38G>C|||||| 22 30987822 . G T . . ANN=T|5_prime_UTR_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|1/15|c.-2C>A|||||2|,T|5_prime_UTR_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|1/15|c.-2C>A|||||2|,T|5_prime_UTR_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|1/15|c.-2C>A|||||2|,T|5_prime_UTR_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay|1/8|n.-2C>A|||||2|,T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000477762|retained_intron||n.-1C>A|||||3812|,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|3/16|c.-394+297C>A||||||,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|3/16|c.-394+297C>A||||||,T|non_coding_exon_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay|1/8|n.-2C>A||||||,T|non_coding_exon_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000433575|processed_transcript|1/5|n.44C>A||||||,T|non_coding_exon_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000466614|retained_intron|1/4|n.56C>A|||||| 22 30987845 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|1/15|c.-25C>T|||||25|,A|5_prime_UTR_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|1/15|c.-25C>T|||||25|,A|5_prime_UTR_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|1/15|c.-25C>T|||||25|,A|5_prime_UTR_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay|1/8|n.-25C>T|||||25|,A|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000477762|retained_intron||n.-1C>T|||||3835|,A|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|3/16|c.-394+274C>T||||||,A|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|3/16|c.-394+274C>T||||||,A|non_coding_exon_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay|1/8|n.-25C>T||||||,A|non_coding_exon_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000433575|processed_transcript|1/5|n.21C>T||||||,A|non_coding_exon_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000466614|retained_intron|1/4|n.33C>T|||||| 22 30987861 . G C . . ANN=C|5_prime_UTR_premature_start_codon_gain_variant|LOW|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|1/15|c.-41C>G||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|1/15|c.-41C>G||||||,C|5_prime_UTR_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|1/15|c.-41C>G|||||41|,C|5_prime_UTR_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|1/15|c.-41C>G|||||41|,C|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding||c.-26C>G|||||16|,C|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay||n.-34C>G|||||8|,C|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000477762|retained_intron||n.-1C>G|||||3851|,C|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|3/16|c.-394+258C>G||||||,C|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|3/16|c.-394+258C>G||||||,C|non_coding_exon_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000433575|processed_transcript|1/5|n.5C>G||||||,C|non_coding_exon_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000466614|retained_intron|1/4|n.17C>G|||||| 22 30987864 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|1/15|c.-44G>A|||||44|,T|5_prime_UTR_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|1/15|c.-44G>A|||||44|,T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding||c.-26G>A|||||19|,T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay||n.-34G>A|||||11|,T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000477762|retained_intron||n.-1G>A|||||3854|,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|3/16|c.-394+255G>A||||||,T|intron_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|3/16|c.-394+255G>A||||||,T|non_coding_exon_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000433575|processed_transcript|1/5|n.2G>A||||||,T|non_coding_exon_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000466614|retained_intron|1/4|n.14G>A|||||| 22 31003283 . C T . . ANN=T|5_prime_UTR_premature_start_codon_gain_variant|LOW|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|1/9|c.-36C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding|1/2|c.-36C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|1/10|n.-36C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|1/9|c.-36C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|1/9|c.-36C>T||||||,T|5_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|1/9|c.-36C>T|||||36|,T|5_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding|1/2|c.-36C>T|||||36|WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|1/10|n.-36C>T|||||36|,T|5_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|1/9|c.-36C>T|||||36|,T|5_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|1/9|c.-36C>T|||||36|,T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding||c.-993G>A|||||213|,T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding||c.-945G>A|||||308|,T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000467368|processed_transcript||n.-1G>A|||||427|,T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000492986|processed_transcript||n.-1G>A|||||238|,T|downstream_gene_variant|MODIFIER|RP1-56J10.8|ENSG00000223831|transcript|ENST00000432130|sense_intronic||n.*249C>T|||||609|,T|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|1/10|n.-36C>T|||||| 22 31003285 . A G . . ANN=G|5_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|1/9|c.-34A>G|||||34|,G|5_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding|1/2|c.-34A>G|||||34|WARNING_TRANSCRIPT_INCOMPLETE,G|5_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|1/10|n.-34A>G|||||34|,G|5_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|1/9|c.-34A>G|||||34|,G|5_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|1/9|c.-34A>G|||||34|,G|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding||c.-993T>C|||||215|,G|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding||c.-945T>C|||||310|,G|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000467368|processed_transcript||n.-1T>C|||||429|,G|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000492986|processed_transcript||n.-1T>C|||||240|,G|downstream_gene_variant|MODIFIER|RP1-56J10.8|ENSG00000223831|transcript|ENST00000432130|sense_intronic||n.*249A>G|||||611|,G|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|1/10|n.-34A>G|||||| 22 31003393 . C T . . ANN=T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.64+11C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.64+11C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|2/9|c.64+11C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.64+11C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|1/9|c.64+11C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.64+11C>T||||||,T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding||c.-993G>A|||||323|,T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding||c.-945G>A|||||418|,T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000467368|processed_transcript||n.-1G>A|||||537|,T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000492986|processed_transcript||n.-1G>A|||||348|,T|downstream_gene_variant|MODIFIER|RP1-56J10.8|ENSG00000223831|transcript|ENST00000432130|sense_intronic||n.*249C>T|||||719|,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|1/8|c.64+11C>T||||||,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding|1/1|c.64+11C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|1/9|n.64+11C>T||||||,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|1/8|c.64+11C>T||||||,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|1/8|c.64+11C>T|||||| 22 31006810 . C T . . ANN=T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.65-48C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.65-48C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|2/9|c.65-48C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.65-48C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|1/9|c.65-48C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.65-48C>T||||||,T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding||c.-993G>A|||||3740|,T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding||c.-945G>A|||||3835|,T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000467368|processed_transcript||n.-1G>A|||||3954|,T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000492986|processed_transcript||n.-1G>A|||||3765|,T|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron||n.-1C>T|||||4869|,T|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1C>T|||||4893|,T|downstream_gene_variant|MODIFIER|RP1-56J10.8|ENSG00000223831|transcript|ENST00000432130|sense_intronic||n.*249C>T|||||4136|,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|1/8|c.65-48C>T||||||,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding|1/1|c.65-48C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|2/9|n.*76-48C>T||||||,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|1/8|c.65-48C>T||||||,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|1/8|c.65-48C>T|||||| 22 31006841 . C T . . ANN=T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.65-17C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.65-17C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|2/9|c.65-17C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.65-17C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|1/9|c.65-17C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.65-17C>T||||||,T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding||c.-993G>A|||||3771|,T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding||c.-945G>A|||||3866|,T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000467368|processed_transcript||n.-1G>A|||||3985|,T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000492986|processed_transcript||n.-1G>A|||||3796|,T|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron||n.-1C>T|||||4838|,T|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1C>T|||||4862|,T|downstream_gene_variant|MODIFIER|RP1-56J10.8|ENSG00000223831|transcript|ENST00000432130|sense_intronic||n.*249C>T|||||4167|,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|1/8|c.65-17C>T||||||,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding|1/1|c.65-17C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|2/9|n.*76-17C>T||||||,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|1/8|c.65-17C>T||||||,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|1/8|c.65-17C>T|||||| 22 31006860 . A G . . ANN=G|missense_variant&splice_region_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|2/9|c.67A>G|p.Ile23Val|561/2535|67/1284|23/427||,G|missense_variant&splice_region_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding|2/2|c.67A>G|p.Ile23Val|396/637|67/308|23/101||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant&splice_region_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|2/9|c.67A>G|p.Ile23Val|247/1936|67/1272|23/423||,G|missense_variant&splice_region_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|2/9|c.67A>G|p.Ile23Val|195/1870|67/1203|23/400||,G|splice_region_variant&non_coding_exon_variant|LOW|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|3/10|n.*78A>G||||||,G|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.67A>G||||||,G|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.67A>G||||||,G|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|2/9|c.67A>G||||||,G|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.67A>G||||||,G|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|1/9|c.67A>G||||||,G|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.67A>G||||||,G|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|3/10|n.*78A>G|||||613|,G|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding||c.-993T>C|||||3790|,G|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding||c.-945T>C|||||3885|,G|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000467368|processed_transcript||n.-1T>C|||||4004|,G|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000492986|processed_transcript||n.-1T>C|||||3815|,G|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron||n.-1A>G|||||4819|,G|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1A>G|||||4843|,G|downstream_gene_variant|MODIFIER|RP1-56J10.8|ENSG00000223831|transcript|ENST00000432130|sense_intronic||n.*249A>G|||||4186| 22 31006882 . T G . . ANN=G|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|2/9|c.89T>G|p.Leu30Arg|583/2535|89/1284|30/427||,G|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding|2/2|c.89T>G|p.Leu30Arg|418/637|89/308|30/101||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|2/9|c.89T>G|p.Leu30Arg|269/1936|89/1272|30/423||,G|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|2/9|c.89T>G|p.Leu30Arg|217/1870|89/1203|30/400||,G|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.89T>G||||||,G|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.89T>G||||||,G|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|2/9|c.89T>G||||||,G|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.89T>G||||||,G|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|1/9|c.89T>G||||||,G|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.89T>G||||||,G|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000215838|protein_coding|2/9|c.89T>G||||||,G|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000407817|protein_coding|2/9|c.89T>G||||||,G|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|3/10|n.*100T>G|||||635|,G|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding||c.-993A>C|||||3812|,G|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding||c.-945A>C|||||3907|,G|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000467368|processed_transcript||n.-1A>C|||||4026|,G|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000492986|processed_transcript||n.-1A>C|||||3837|,G|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron||n.-1T>G|||||4797|,G|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1T>G|||||4821|,G|downstream_gene_variant|MODIFIER|RP1-56J10.8|ENSG00000223831|transcript|ENST00000432130|sense_intronic||n.*249T>G|||||4208|,G|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|3/10|n.*100T>G|||||| 22 31006932 . C A . . ANN=A|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|2/9|c.139C>A|p.Leu47Met|633/2535|139/1284|47/427||,A|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding|2/2|c.139C>A|p.Leu47Met|468/637|139/308|47/101||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|2/9|c.139C>A|p.Leu47Met|319/1936|139/1272|47/423||,A|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|2/9|c.139C>A|p.Leu47Met|267/1870|139/1203|47/400||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.139C>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.139C>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|2/9|c.139C>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.139C>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|1/9|c.139C>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.139C>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|turn|ENST00000215838|protein_coding|2/9|c.139C>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|turn|ENST00000407817|protein_coding|2/9|c.139C>A||||||,A|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|3/10|n.*150C>A|||||685|,A|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding||c.-993G>T|||||3862|,A|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding||c.-945G>T|||||3957|,A|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000467368|processed_transcript||n.-1G>T|||||4076|,A|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000492986|processed_transcript||n.-1G>T|||||3887|,A|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron||n.-1C>A|||||4747|,A|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1C>A|||||4771|,A|downstream_gene_variant|MODIFIER|RP1-56J10.8|ENSG00000223831|transcript|ENST00000432130|sense_intronic||n.*249C>A|||||4258|,A|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|3/10|n.*150C>A|||||| 22 31006977 . A G . . ANN=G|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|2/9|c.184A>G|p.Ser62Gly|678/2535|184/1284|62/427||,G|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding|2/2|c.184A>G|p.Ser62Gly|513/637|184/308|62/101||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|2/9|c.184A>G|p.Ser62Gly|364/1936|184/1272|62/423||,G|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|2/9|c.184A>G|p.Ser62Gly|312/1870|184/1203|62/400||,G|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.184A>G||||||,G|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.184A>G||||||,G|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|2/9|c.184A>G||||||,G|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.184A>G||||||,G|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|1/9|c.184A>G||||||,G|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.184A>G||||||,G|sequence_feature|LOW|TCN2|ENSG00000185339|beta_strand|ENST00000215838|protein_coding|2/9|c.184A>G||||||,G|sequence_feature|LOW|TCN2|ENSG00000185339|beta_strand|ENST00000407817|protein_coding|2/9|c.184A>G||||||,G|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|3/10|n.*195A>G|||||730|,G|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding||c.-993T>C|||||3907|,G|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding||c.-945T>C|||||4002|,G|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000467368|processed_transcript||n.-1T>C|||||4121|,G|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000492986|processed_transcript||n.-1T>C|||||3932|,G|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron||n.-1A>G|||||4702|,G|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1A>G|||||4726|,G|downstream_gene_variant|MODIFIER|RP1-56J10.8|ENSG00000223831|transcript|ENST00000432130|sense_intronic||n.*249A>G|||||4303|,G|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|3/10|n.*195A>G|||||| 22 31006985 . G A . . ANN=A|synonymous_variant|LOW|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|2/9|c.192G>A|p.Gln64Gln|686/2535|192/1284|64/427||,A|synonymous_variant|LOW|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding|2/2|c.192G>A|p.Gln64Gln|521/637|192/308|64/101||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|2/9|c.192G>A|p.Gln64Gln|372/1936|192/1272|64/423||,A|synonymous_variant|LOW|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|2/9|c.192G>A|p.Gln64Gln|320/1870|192/1203|64/400||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.192G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.192G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|2/9|c.192G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.192G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|1/9|c.192G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.192G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|beta_strand|ENST00000215838|protein_coding|2/9|c.192G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|beta_strand|ENST00000407817|protein_coding|2/9|c.192G>A||||||,A|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|3/10|n.*203G>A|||||738|,A|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding||c.-993C>T|||||3915|,A|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding||c.-945C>T|||||4010|,A|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000467368|processed_transcript||n.-1C>T|||||4129|,A|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000492986|processed_transcript||n.-1C>T|||||3940|,A|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron||n.-1G>A|||||4694|,A|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1G>A|||||4718|,A|downstream_gene_variant|MODIFIER|RP1-56J10.8|ENSG00000223831|transcript|ENST00000432130|sense_intronic||n.*249G>A|||||4311|,A|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|3/10|n.*203G>A|||||| 22 31007023 . A T . . ANN=T|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|2/9|c.230A>T|p.Lys77Met|724/2535|230/1284|77/427||,T|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding|2/2|c.230A>T|p.Lys77Met|559/637|230/308|77/101||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|2/9|c.230A>T|p.Lys77Met|410/1936|230/1272|77/423||,T|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|2/9|c.230A>T|p.Lys77Met|358/1870|230/1203|77/400||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.230A>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.230A>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|2/9|c.230A>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.230A>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|1/9|c.230A>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.230A>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000215838|protein_coding|2/9|c.230A>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000407817|protein_coding|2/9|c.230A>T||||||,T|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|3/10|n.*241A>T|||||776|,T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding||c.-993T>A|||||3953|,T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding||c.-945T>A|||||4048|,T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000467368|processed_transcript||n.-1T>A|||||4167|,T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000492986|processed_transcript||n.-1T>A|||||3978|,T|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron||n.-1A>T|||||4656|,T|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1A>T|||||4680|,T|downstream_gene_variant|MODIFIER|RP1-56J10.8|ENSG00000223831|transcript|ENST00000432130|sense_intronic||n.*249A>T|||||4349|,T|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|3/10|n.*241A>T|||||| 22 31007082 . C T . . ANN=T|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding|2/2|c.289C>T|p.Leu97Phe|618/637|289/308|97/101||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.257+32C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.257+32C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|2/9|c.257+32C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.257+32C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|1/9|c.257+32C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.257+32C>T||||||,T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding||c.-993G>A|||||4012|,T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding||c.-945G>A|||||4107|,T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000467368|processed_transcript||n.-1G>A|||||4226|,T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000492986|processed_transcript||n.-1G>A|||||4037|,T|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron||n.-1C>T|||||4597|,T|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1C>T|||||4621|,T|downstream_gene_variant|MODIFIER|RP1-56J10.8|ENSG00000223831|transcript|ENST00000432130|sense_intronic||n.*249C>T|||||4408|,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|2/8|c.257+32C>T||||||,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|3/9|n.*268+32C>T||||||,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|2/8|c.257+32C>T||||||,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|2/8|c.257+32C>T|||||| 22 31008867 . T C . . ANN=C|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|3/9|c.265T>C|p.Phe89Leu|759/2535|265/1284|89/427||,C|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|3/9|c.265T>C|p.Phe89Leu|393/1870|265/1203|89/400||,C|splice_region_variant&intron_variant|LOW|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|2/8|c.258-5T>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.265T>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.265T>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|2/9|c.265T>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.265T>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|1/9|c.265T>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.265T>C||||||,C|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|4/10|n.*276T>C|||||2620|,C|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron||n.-1T>C|||||2812|,C|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1T>C|||||2836|,C|downstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding||c.*637T>C|||||1766|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|4/10|n.*276T>C|||||| 22 31008882 . G A . . ANN=A|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|3/9|c.280G>A|p.Gly94Ser|774/2535|280/1284|94/427||,A|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|3/9|c.268G>A|p.Gly90Ser|448/1936|268/1272|90/423||,A|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|3/9|c.280G>A|p.Gly94Ser|408/1870|280/1203|94/400||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.280G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.280G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|2/9|c.280G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.280G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|1/9|c.280G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.280G>A||||||,A|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|4/10|n.*291G>A|||||2635|,A|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron||n.-1G>A|||||2797|,A|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1G>A|||||2821|,A|downstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding||c.*637G>A|||||1781|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|4/10|n.*291G>A|||||| 22 31008889 . G A . . ANN=A|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|3/9|c.287G>A|p.Cys96Tyr|781/2535|287/1284|96/427||,A|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|3/9|c.275G>A|p.Cys92Tyr|455/1936|275/1272|92/423||,A|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|3/9|c.287G>A|p.Cys96Tyr|415/1870|287/1203|96/400||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.287G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.287G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|2/9|c.287G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.287G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|1/9|c.287G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.287G>A||||||,A|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|4/10|n.*298G>A|||||2642|,A|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron||n.-1G>A|||||2790|,A|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1G>A|||||2814|,A|downstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding||c.*637G>A|||||1788|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|4/10|n.*298G>A|||||| 22 31008962 . G A . . ANN=A|synonymous_variant|LOW|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|3/9|c.360G>A|p.Arg120Arg|854/2535|360/1284|120/427||,A|synonymous_variant|LOW|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|3/9|c.348G>A|p.Arg116Arg|528/1936|348/1272|116/423||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.360G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.360G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|2/9|c.360G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.360G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|1/9|c.360G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.360G>A||||||,A|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|4/10|n.*371G>A|||||2715|,A|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron||n.-1G>A|||||2717|,A|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1G>A|||||2741|,A|downstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding||c.*637G>A|||||1861|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|3/8|c.346+14G>A||||||,A|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|4/10|n.*371G>A|||||| 22 31009026 . A G . . ANN=G|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|3/9|c.424A>G|p.Ile142Val|918/2535|424/1284|142/427||,G|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|3/9|c.412A>G|p.Ile138Val|592/1936|412/1272|138/423||,G|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.424A>G||||||,G|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.424A>G||||||,G|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|2/9|c.424A>G||||||,G|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.424A>G||||||,G|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|1/9|c.424A>G||||||,G|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.424A>G||||||,G|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000215838|protein_coding|3/9|c.424A>G||||||,G|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|4/10|n.*435A>G|||||2779|,G|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron||n.-1A>G|||||2653|,G|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1A>G|||||2677|,G|downstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding||c.*637A>G|||||1925|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|3/8|c.346+78A>G||||||,G|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|4/10|n.*435A>G|||||| 22 31009046 . C T . . ANN=T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.427+17C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.427+17C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|2/9|c.427+17C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.427+17C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|1/9|c.427+17C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.427+17C>T||||||,T|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron||n.-1C>T|||||2633|,T|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1C>T|||||2657|,T|downstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding||c.*637C>T|||||1945|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|3/8|c.427+17C>T||||||,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|4/9|n.*438+17C>T||||||,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|3/8|c.415+17C>T||||||,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|3/8|c.346+98C>T|||||| 22 31009064 . G A . . ANN=A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.427+35G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.427+35G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|2/9|c.427+35G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.427+35G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|1/9|c.427+35G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.427+35G>A||||||,A|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron||n.-1G>A|||||2615|,A|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1G>A|||||2639|,A|downstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding||c.*637G>A|||||1963|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|3/8|c.427+35G>A||||||,A|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|4/9|n.*438+35G>A||||||,A|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|3/8|c.415+35G>A||||||,A|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|3/8|c.346+116G>A|||||| 22 31010297 . G T . . ANN=T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.428-39G>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.428-39G>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|2/9|c.428-39G>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.428-39G>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|1/9|c.428-39G>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.428-39G>T||||||,T|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron||n.-1G>T|||||1382|,T|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1G>T|||||1406|,T|downstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding||c.*637G>T|||||3196|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|3/8|c.428-39G>T||||||,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|4/9|n.*439-39G>T||||||,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|3/8|c.416-39G>T||||||,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|3/8|c.347-39G>T|||||| 22 31010305 . G A . . ANN=A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.428-31G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.428-31G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|2/9|c.428-31G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.428-31G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|1/9|c.428-31G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.428-31G>A||||||,A|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron||n.-1G>A|||||1374|,A|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1G>A|||||1398|,A|downstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding||c.*637G>A|||||3204|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|3/8|c.428-31G>A||||||,A|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|4/9|n.*439-31G>A||||||,A|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|3/8|c.416-31G>A||||||,A|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|3/8|c.347-31G>A|||||| 22 31010313 . C T . . ANN=T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.428-23C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.428-23C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|2/9|c.428-23C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.428-23C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|1/9|c.428-23C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.428-23C>T||||||,T|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron||n.-1C>T|||||1366|,T|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1C>T|||||1390|,T|downstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding||c.*637C>T|||||3212|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|3/8|c.428-23C>T||||||,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|4/9|n.*439-23C>T||||||,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|3/8|c.416-23C>T||||||,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|3/8|c.347-23C>T|||||| 22 31010408 . A T . . ANN=T|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|4/9|c.500A>T|p.His167Leu|994/2535|500/1284|167/427||,T|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|4/9|c.488A>T|p.His163Leu|668/1936|488/1272|163/423||,T|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|4/9|c.419A>T|p.His140Leu|547/1870|419/1203|140/400||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.500A>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.500A>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|2/9|c.500A>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.500A>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|1/9|c.500A>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.500A>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000407817|protein_coding|4/9|c.419A>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000407817|protein_coding|5/9|c.419A>T||||||,T|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|5/10|n.*511A>T|||||4161|,T|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron||n.-1A>T|||||1271|,T|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1A>T|||||1295|,T|downstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding||c.*637A>T|||||3307|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|5/10|n.*511A>T|||||| 22 31010417 . G A . . ANN=A|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|4/9|c.509G>A|p.Arg170Gln|1003/2535|509/1284|170/427||,A|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|4/9|c.497G>A|p.Arg166Gln|677/1936|497/1272|166/423||,A|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|4/9|c.428G>A|p.Arg143Gln|556/1870|428/1203|143/400||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.509G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.509G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|2/9|c.509G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.509G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|1/9|c.509G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.509G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000407817|protein_coding|4/9|c.428G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000407817|protein_coding|5/9|c.428G>A||||||,A|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|5/10|n.*520G>A|||||4170|,A|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron||n.-1G>A|||||1262|,A|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1G>A|||||1286|,A|downstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding||c.*637G>A|||||3316|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|5/10|n.*520G>A|||||| 22 31010431 . G A . . ANN=A|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|4/9|c.523G>A|p.Val175Met|1017/2535|523/1284|175/427||,A|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|4/9|c.511G>A|p.Val171Met|691/1936|511/1272|171/423||,A|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|4/9|c.442G>A|p.Val148Met|570/1870|442/1203|148/400||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.523G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.523G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|2/9|c.523G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.523G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|1/9|c.523G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.523G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000215838|protein_coding|4/9|c.523G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000407817|protein_coding|4/9|c.442G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000407817|protein_coding|5/9|c.442G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000407817|protein_coding|4/9|c.442G>A||||||,A|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|5/10|n.*534G>A|||||4184|,A|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron||n.-1G>A|||||1248|,A|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1G>A|||||1272|,A|downstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding||c.*637G>A|||||3330|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|5/10|n.*534G>A|||||| 22 31010455 . G A . . ANN=A|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|4/9|c.547G>A|p.Val183Met|1041/2535|547/1284|183/427||,A|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|4/9|c.535G>A|p.Val179Met|715/1936|535/1272|179/423||,A|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|4/9|c.466G>A|p.Val156Met|594/1870|466/1203|156/400||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.547G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.547G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|2/9|c.547G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.547G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|1/9|c.547G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.547G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000215838|protein_coding|4/9|c.547G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000407817|protein_coding|4/9|c.466G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000407817|protein_coding|5/9|c.466G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000407817|protein_coding|4/9|c.466G>A||||||,A|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|5/10|n.*558G>A|||||4208|,A|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron||n.-1G>A|||||1224|,A|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1G>A|||||1248|,A|downstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding||c.*637G>A|||||3354|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|5/10|n.*558G>A|||||| 22 31010462 . C T . . ANN=T|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|4/9|c.554C>T|p.Pro185Leu|1048/2535|554/1284|185/427||,T|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|4/9|c.542C>T|p.Pro181Leu|722/1936|542/1272|181/423||,T|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|4/9|c.473C>T|p.Pro158Leu|601/1870|473/1203|158/400||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.554C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.554C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|2/9|c.554C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.554C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|1/9|c.554C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.554C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000407817|protein_coding|4/9|c.473C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000407817|protein_coding|5/9|c.473C>T||||||,T|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|5/10|n.*565C>T|||||4215|,T|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron||n.-1C>T|||||1217|,T|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1C>T|||||1241|,T|downstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding||c.*637C>T|||||3361|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|5/10|n.*565C>T|||||| 22 31010504 . C T . . ANN=T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.580+16C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.580+16C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|2/9|c.580+16C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.580+16C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|1/9|c.580+16C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.580+16C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|region_of_interest:Cobalamin_binding|ENST00000215838|protein_coding|4/9|c.580+16C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|region_of_interest:Cobalamin_binding|ENST00000215838|protein_coding|5/9|c.580+16C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000215838|protein_coding|4/9|c.580+16C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000215838|protein_coding|5/9|c.580+16C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000407817|protein_coding|4/9|c.499+16C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000407817|protein_coding|5/9|c.499+16C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|region_of_interest:Cobalamin_binding|ENST00000407817|protein_coding|4/9|c.499+16C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|region_of_interest:Cobalamin_binding|ENST00000407817|protein_coding|5/9|c.499+16C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000407817|protein_coding|4/9|c.499+16C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000407817|protein_coding|5/9|c.499+16C>T||||||,T|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron||n.-1C>T|||||1175|,T|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1C>T|||||1199|,T|downstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding||c.*637C>T|||||3403|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|4/8|c.580+16C>T||||||,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|5/9|n.*591+16C>T||||||,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|4/8|c.568+16C>T||||||,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|4/8|c.499+16C>T|||||| 22 31010505 . G T . . ANN=T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.580+17G>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.580+17G>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|2/9|c.580+17G>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.580+17G>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|1/9|c.580+17G>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.580+17G>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|region_of_interest:Cobalamin_binding|ENST00000215838|protein_coding|4/9|c.580+17G>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|region_of_interest:Cobalamin_binding|ENST00000215838|protein_coding|5/9|c.580+17G>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000215838|protein_coding|4/9|c.580+17G>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000215838|protein_coding|5/9|c.580+17G>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000407817|protein_coding|4/9|c.499+17G>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000407817|protein_coding|5/9|c.499+17G>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|region_of_interest:Cobalamin_binding|ENST00000407817|protein_coding|4/9|c.499+17G>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|region_of_interest:Cobalamin_binding|ENST00000407817|protein_coding|5/9|c.499+17G>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000407817|protein_coding|4/9|c.499+17G>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000407817|protein_coding|5/9|c.499+17G>T||||||,T|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron||n.-1G>T|||||1174|,T|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1G>T|||||1198|,T|downstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding||c.*637G>T|||||3404|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|4/8|c.580+17G>T||||||,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|5/9|n.*591+17G>T||||||,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|4/8|c.568+17G>T||||||,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|4/8|c.499+17G>T|||||| 22 31011280 . A C . . ANN=C|splice_region_variant&intron_variant|LOW|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|4/8|c.581-8A>C||||||,C|splice_region_variant&intron_variant|LOW|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|5/9|n.*592-8A>C||||||,C|splice_region_variant&intron_variant|LOW|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|4/8|c.569-8A>C||||||,C|splice_region_variant&intron_variant|LOW|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|4/8|c.500-8A>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.581-8A>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.581-8A>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|2/9|c.581-8A>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.581-8A>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|1/9|c.581-8A>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.581-8A>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|region_of_interest:Cobalamin_binding|ENST00000215838|protein_coding|4/9|c.581-8A>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|region_of_interest:Cobalamin_binding|ENST00000215838|protein_coding|5/9|c.581-8A>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000215838|protein_coding|4/9|c.581-8A>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000215838|protein_coding|5/9|c.581-8A>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000407817|protein_coding|4/9|c.500-8A>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000407817|protein_coding|5/9|c.500-8A>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|region_of_interest:Cobalamin_binding|ENST00000407817|protein_coding|4/9|c.500-8A>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|region_of_interest:Cobalamin_binding|ENST00000407817|protein_coding|5/9|c.500-8A>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000407817|protein_coding|4/9|c.500-8A>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000407817|protein_coding|5/9|c.500-8A>C||||||,C|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron||n.-1A>C|||||399|,C|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1A>C|||||423|,C|downstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding||c.*637A>C|||||4179|WARNING_TRANSCRIPT_INCOMPLETE 22 31011330 . G A . . ANN=A|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|5/9|c.623G>A|p.Arg208His|1117/2535|623/1284|208/427||,A|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|5/9|c.611G>A|p.Arg204His|791/1936|611/1272|204/423||,A|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|5/9|c.542G>A|p.Arg181His|670/1870|542/1203|181/400||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.623G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.623G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|2/9|c.623G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.623G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|1/9|c.623G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.623G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|turn|ENST00000215838|protein_coding|5/9|c.623G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|turn|ENST00000407817|protein_coding|5/9|c.542G>A||||||,A|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|6/10|n.*634G>A|||||5083|,A|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron||n.-1G>A|||||349|,A|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1G>A|||||373|,A|downstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding||c.*637G>A|||||4229|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|6/10|n.*634G>A|||||| 22 31011350 . C T . . ANN=T|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|5/9|c.643C>T|p.Arg215Trp|1137/2535|643/1284|215/427||,T|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|5/9|c.631C>T|p.Arg211Trp|811/1936|631/1272|211/423||,T|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|5/9|c.562C>T|p.Arg188Trp|690/1870|562/1203|188/400||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.643C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.643C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|2/9|c.643C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.643C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|1/9|c.643C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.643C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000215838|protein_coding|5/9|c.643C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000407817|protein_coding|5/9|c.562C>T||||||,T|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|6/10|n.*654C>T|||||5103|,T|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron||n.-1C>T|||||329|,T|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1C>T|||||353|,T|downstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding||c.*637C>T|||||4249|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|6/10|n.*654C>T|||||| 22 31011478 . GA G . . ANN=|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.753+19delA||||||,|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.753+19delA||||||,|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|2/9|c.753+19delA||||||,|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.753+19delA||||||,|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|1/9|c.753+19delA||||||,|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.753+19delA||||||,|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000215838|protein_coding|6/9|c.753+19delA||||||,|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000215838|protein_coding|5/9|c.753+19delA||||||,|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000407817|protein_coding|6/9|c.672+19delA||||||,|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000407817|protein_coding|5/9|c.672+19delA||||||,|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron||n.-1delA|||||200|,|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1delA|||||224|,|downstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding||c.*637delA|||||4378|WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|5/8|c.753+19delA||||||,|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|6/9|n.*764+19delA||||||,|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|5/8|c.741+19delA||||||,|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|5/8|c.672+19delA|||||| 22 31011504 . CAG C . . ANN=|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.753+45_753+46delAG||||||,|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.753+45_753+46delAG||||||,|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|2/9|c.753+45_753+46delAG||||||,|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.753+45_753+46delAG||||||,|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|1/9|c.753+45_753+46delAG||||||,|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.753+45_753+46delAG||||||,|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000215838|protein_coding|6/9|c.753+45_753+46delAG||||||,|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000215838|protein_coding|5/9|c.753+45_753+46delAG||||||,|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000407817|protein_coding|6/9|c.672+45_672+46delAG||||||,|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000407817|protein_coding|5/9|c.672+45_672+46delAG||||||,|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron||n.-1_-1delAG|||||174|,|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1_-1delAG|||||198|,|downstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding||c.*637_*637delAG|||||4404|WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|5/8|c.753+45_753+46delAG||||||,|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|6/9|n.*764+45_*764+46delAG||||||,|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|5/8|c.741+45_741+46delAG||||||,|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|5/8|c.672+45_672+46delAG|||||| 22 31011557 . T C . . ANN=C|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.754-31T>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.754-31T>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|2/9|c.754-31T>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.754-31T>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|1/9|c.754-31T>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.754-31T>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000215838|protein_coding|6/9|c.754-31T>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000215838|protein_coding|5/9|c.754-31T>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000407817|protein_coding|6/9|c.673-31T>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000407817|protein_coding|5/9|c.673-31T>C||||||,C|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron||n.-1T>C|||||122|,C|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1T>C|||||146|,C|downstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding||c.*637T>C|||||4456|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|5/8|c.754-31T>C||||||,C|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|6/9|n.*765-31T>C||||||,C|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|5/8|c.742-31T>C||||||,C|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|5/8|c.673-31T>C|||||| 22 31011558 . T A . . ANN=A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.754-30T>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.754-30T>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|2/9|c.754-30T>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.754-30T>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|1/9|c.754-30T>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.754-30T>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000215838|protein_coding|6/9|c.754-30T>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000215838|protein_coding|5/9|c.754-30T>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000407817|protein_coding|6/9|c.673-30T>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000407817|protein_coding|5/9|c.673-30T>A||||||,A|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron||n.-1T>A|||||121|,A|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1T>A|||||145|,A|downstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding||c.*637T>A|||||4457|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|5/8|c.754-30T>A||||||,A|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|6/9|n.*765-30T>A||||||,A|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|5/8|c.742-30T>A||||||,A|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|5/8|c.673-30T>A|||||| 22 31011609 . C T . . ANN=T|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|6/9|c.775C>T|p.Arg259Cys|1269/2535|775/1284|259/427||,T|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|6/9|c.763C>T|p.Arg255Cys|943/1936|763/1272|255/423||,T|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|6/9|c.694C>T|p.Arg232Cys|822/1870|694/1203|232/400||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.775C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.775C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|2/9|c.775C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.775C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|1/9|c.775C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.775C>T||||||,T|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|7/10|n.*786C>T|||||5362|,T|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron||n.-1C>T|||||70|,T|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1C>T|||||94|,T|downstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding||c.*637C>T|||||4508|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|7/10|n.*786C>T|||||| 22 31011610 . G C . . ANN=C|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|6/9|c.776G>C|p.Arg259Pro|1270/2535|776/1284|259/427||,C|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|6/9|c.764G>C|p.Arg255Pro|944/1936|764/1272|255/423||,C|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|6/9|c.695G>C|p.Arg232Pro|823/1870|695/1203|232/400||,C|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.776G>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.776G>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|2/9|c.776G>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.776G>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|1/9|c.776G>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.776G>C||||||,C|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|7/10|n.*787G>C|||||5363|,C|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron||n.-1G>C|||||69|,C|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1G>C|||||93|,C|downstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding||c.*637G>C|||||4509|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|7/10|n.*787G>C|||||| 22 31011618 . G C . . ANN=C|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|6/9|c.784G>C|p.Glu262Gln|1278/2535|784/1284|262/427||,C|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|6/9|c.772G>C|p.Glu258Gln|952/1936|772/1272|258/423||,C|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|6/9|c.703G>C|p.Glu235Gln|831/1870|703/1203|235/400||,C|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.784G>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.784G>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|2/9|c.784G>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.784G>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|1/9|c.784G>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.784G>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000215838|protein_coding|6/9|c.784G>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000407817|protein_coding|6/9|c.703G>C||||||,C|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|7/10|n.*795G>C|||||5371|,C|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron||n.-1G>C|||||61|,C|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1G>C|||||85|,C|downstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding||c.*637G>C|||||4517|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|7/10|n.*795G>C|||||| 22 31011644 . G A . . ANN=A|synonymous_variant|LOW|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|6/9|c.810G>A|p.Ala270Ala|1304/2535|810/1284|270/427||,A|synonymous_variant|LOW|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|6/9|c.798G>A|p.Ala266Ala|978/1936|798/1272|266/423||,A|synonymous_variant|LOW|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|6/9|c.729G>A|p.Ala243Ala|857/1870|729/1203|243/400||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.810G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.810G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.810G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.810G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000215838|protein_coding|6/9|c.810G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000407817|protein_coding|6/9|c.729G>A||||||,A|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|7/10|n.*821G>A|||||5397|,A|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron||n.-1G>A|||||35|,A|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1G>A|||||59|,A|downstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding||c.*637G>A|||||4543|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|7/10|n.*821G>A|||||| 22 31011674 . T C . . ANN=C|synonymous_variant|LOW|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|6/9|c.840T>C|p.Asp280Asp|1334/2535|840/1284|280/427||,C|synonymous_variant|LOW|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|6/9|c.828T>C|p.Asp276Asp|1008/1936|828/1272|276/423||,C|synonymous_variant|LOW|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|6/9|c.759T>C|p.Asp253Asp|887/1870|759/1203|253/400||,C|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.840T>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.840T>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.840T>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.840T>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|turn|ENST00000215838|protein_coding|6/9|c.840T>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|turn|ENST00000407817|protein_coding|6/9|c.759T>C||||||,C|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|7/10|n.*851T>C|||||5427|,C|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron||n.-1T>C|||||5|,C|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1T>C|||||29|,C|downstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding||c.*637T>C|||||4573|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|7/10|n.*851T>C|||||| 22 31011691 . C T . . ANN=T|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|6/9|c.857C>T|p.Ala286Val|1351/2535|857/1284|286/427||,T|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|6/9|c.845C>T|p.Ala282Val|1025/1936|845/1272|282/423||,T|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|6/9|c.776C>T|p.Ala259Val|904/1870|776/1203|259/400||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.857C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.857C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.857C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.857C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000215838|protein_coding|6/9|c.857C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000407817|protein_coding|6/9|c.776C>T||||||,T|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|7/10|n.*868C>T|||||5444|,T|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1C>T|||||12|,T|downstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding||c.*637C>T|||||4590|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|7/10|n.*868C>T||||||,T|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron|1/2|n.13C>T|||||| 22 31011711 . C T . . ANN=T|synonymous_variant|LOW|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|6/9|c.877C>T|p.Leu293Leu|1371/2535|877/1284|293/427||,T|synonymous_variant|LOW|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|6/9|c.865C>T|p.Leu289Leu|1045/1936|865/1272|289/423||,T|synonymous_variant|LOW|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|6/9|c.796C>T|p.Leu266Leu|924/1870|796/1203|266/400||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.877C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.877C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.877C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.877C>T||||||,T|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|7/10|n.*888C>T|||||5464|,T|downstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding||c.*637C>T|||||4610|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|7/10|n.*888C>T||||||,T|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron|1/2|n.33C>T||||||,T|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron|1/3|n.9C>T|||||| 22 31013284 . C T . . ANN=T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|6/8|c.941-33C>T||||||,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|7/9|n.*952-33C>T||||||,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|6/8|c.929-33C>T||||||,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|6/8|c.860-33C>T||||||,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron|1/1|n.97-33C>T||||||,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron|1/2|n.73-33C>T|||||| 22 31013296 . G A . . ANN=A|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|6/8|c.941-21G>A||||||,A|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|7/9|n.*952-21G>A||||||,A|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|6/8|c.929-21G>A||||||,A|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|6/8|c.860-21G>A||||||,A|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron|1/1|n.97-21G>A||||||,A|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron|1/2|n.73-21G>A|||||| 22 31013304 . C T . . ANN=T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|6/8|c.941-13C>T||||||,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|7/9|n.*952-13C>T||||||,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|6/8|c.929-13C>T||||||,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|6/8|c.860-13C>T||||||,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron|1/1|n.97-13C>T||||||,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron|1/2|n.73-13C>T|||||| 22 31013308 . C T . . ANN=T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|6/8|c.941-9C>T||||||,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|7/9|n.*952-9C>T||||||,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|6/8|c.929-9C>T||||||,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|6/8|c.860-9C>T||||||,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron|1/1|n.97-9C>T||||||,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron|1/2|n.73-9C>T|||||| 22 31013374 . C T . . ANN=T|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|7/9|c.998C>T|p.Thr333Met|1492/2535|998/1284|333/427||,T|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|7/9|c.986C>T|p.Thr329Met|1166/1936|986/1272|329/423||,T|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|7/9|c.917C>T|p.Thr306Met|1045/1870|917/1203|306/400||,T|sequence_feature|LOW|TCN2|ENSG00000185339|beta_strand|ENST00000215838|protein_coding|7/9|c.998C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|beta_strand|ENST00000407817|protein_coding|7/9|c.917C>T||||||,T|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|8/10|n.*1009C>T|||||7127|,T|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|8/10|n.*1009C>T||||||,T|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron|2/2|n.154C>T||||||,T|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron|2/3|n.130C>T|||||| 22 31013399 . G A . . ANN=A|synonymous_variant|LOW|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|7/9|c.1023G>A|p.Pro341Pro|1517/2535|1023/1284|341/427||,A|synonymous_variant|LOW|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|7/9|c.1011G>A|p.Pro337Pro|1191/1936|1011/1272|337/423||,A|synonymous_variant|LOW|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|7/9|c.942G>A|p.Pro314Pro|1070/1870|942/1203|314/400||,A|sequence_feature|LOW|TCN2|ENSG00000185339|beta_strand|ENST00000215838|protein_coding|7/9|c.1023G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|beta_strand|ENST00000407817|protein_coding|7/9|c.942G>A||||||,A|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|8/10|n.*1034G>A|||||7152|,A|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|8/10|n.*1034G>A||||||,A|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron|2/2|n.179G>A||||||,A|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron|2/3|n.155G>A|||||| 22 31013419 . C T . . ANN=T|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|7/9|c.1043C>T|p.Ser348Phe|1537/2535|1043/1284|348/427||,T|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|7/9|c.1031C>T|p.Ser344Phe|1211/1936|1031/1272|344/423||,T|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|7/9|c.962C>T|p.Ser321Phe|1090/1870|962/1203|321/400||,T|sequence_feature|LOW|TCN2|ENSG00000185339|beta_strand|ENST00000215838|protein_coding|7/9|c.1043C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|beta_strand|ENST00000407817|protein_coding|7/9|c.962C>T||||||,T|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|8/10|n.*1054C>T|||||7172|,T|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|8/10|n.*1054C>T||||||,T|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron|2/2|n.199C>T||||||,T|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron|2/3|n.175C>T|||||| 22 31013532 . A AT . . ANN=T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|7/8|c.1106+51dupT||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|8/9|n.*1117+51dupT||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|7/8|c.1094+51dupT||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|7/8|c.1025+51dupT||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron|2/2|n.238+51dupT||||||INFO_REALIGN_3_PRIME,T|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron|2/2|n.313dupT||||||INFO_REALIGN_3_PRIME 22 31018914 . C G . . ANN=G|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|7/8|c.1107-41C>G||||||,G|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|8/9|n.*1118-41C>G||||||,G|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|7/8|c.1095-41C>G||||||,G|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|7/8|c.1026-41C>G||||||,G|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron|2/2|n.239-41C>G|||||| 22 31018975 . T C . . ANN=C|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|8/9|c.1127T>C|p.Leu376Ser|1621/2535|1127/1284|376/427||,C|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|8/9|c.1115T>C|p.Leu372Ser|1295/1936|1115/1272|372/423||,C|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|8/9|c.1046T>C|p.Leu349Ser|1174/1870|1046/1203|349/400||,C|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|9/10|n.*1138T>C|||||12728|,C|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|9/10|n.*1138T>C||||||,C|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron|3/3|n.259T>C|||||| 22 31019044 . G A . . ANN=A|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|8/9|c.1196G>A|p.Arg399Gln|1690/2535|1196/1284|399/427||,A|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|8/9|c.1184G>A|p.Arg395Gln|1364/1936|1184/1272|395/423||,A|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|8/9|c.1115G>A|p.Arg372Gln|1243/1870|1115/1203|372/400||,A|sequence_feature|LOW|TCN2|ENSG00000185339|beta_strand|ENST00000215838|protein_coding|8/9|c.1196G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|beta_strand|ENST00000407817|protein_coding|8/9|c.1115G>A||||||,A|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|9/10|n.*1207G>A|||||12797|,A|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|9/10|n.*1207G>A||||||,A|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron|3/3|n.328G>A|||||| 22 31019094 . G C . . ANN=C|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|8/8|c.1222+24G>C||||||,C|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|9/9|n.*1233+24G>C||||||,C|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|8/8|c.1210+24G>C||||||,C|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|8/8|c.1141+24G>C||||||,C|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron|3/3|n.378G>C|||||| 22 31019116 . T C . . ANN=C|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|8/8|c.1222+46T>C||||||,C|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|9/9|n.*1233+46T>C||||||,C|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|8/8|c.1210+46T>C||||||,C|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|8/8|c.1141+46T>C||||||,C|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron|3/3|n.400T>C|||||| 22 31022401 . G A . . ANN=A|downstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.*567G>A|||||3118|,A|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|8/8|c.1223-46G>A||||||,A|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|9/9|n.*1234-46G>A||||||,A|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|8/8|c.1211-46G>A||||||,A|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|8/8|c.1142-46G>A|||||| 22 31022453 . C G . . ANN=G|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|9/9|c.1229C>G|p.Ala410Gly|1723/2535|1229/1284|410/427||,G|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|9/9|c.1217C>G|p.Ala406Gly|1397/1936|1217/1272|406/423||,G|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|9/9|c.1148C>G|p.Ala383Gly|1276/1870|1148/1203|383/400||,G|sequence_feature|LOW|TCN2|ENSG00000185339|turn|ENST00000215838|protein_coding|9/9|c.1229C>G||||||,G|sequence_feature|LOW|TCN2|ENSG00000185339|turn|ENST00000407817|protein_coding|9/9|c.1148C>G||||||,G|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|10/10|n.*1240C>G|||||16206|,G|downstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.*567C>G|||||3170|,G|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|10/10|n.*1240C>G|||||| 22 31022537 . C A . . ANN=A|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|9/9|c.*29C>A|||||29|,A|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|10/10|n.*1324C>A|||||16290|,A|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|9/9|c.*29C>A|||||29|,A|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|9/9|c.*29C>A|||||29|,A|downstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.*567C>A|||||3254|,A|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|10/10|n.*1324C>A|||||| 22 31032604 . GGCT G . . ANN=|inframe_deletion|MODERATE|SLC35E4|ENSG00000100036|transcript|ENST00000343605|protein_coding|1/2|c.172_174delCTG|p.Leu58del|971/2714|172/1053|58/350||INFO_REALIGN_3_PRIME,|inframe_deletion|MODERATE|SLC35E4|ENSG00000100036|transcript|ENST00000300385|protein_coding|1/2|c.172_174delCTG|p.Leu58del|817/1350|172/705|58/234||INFO_REALIGN_3_PRIME,|inframe_deletion|MODERATE|SLC35E4|ENSG00000100036|transcript|ENST00000406566|protein_coding|1/3|c.172_174delCTG|p.Leu58del|300/2081|172/705|58/234||INFO_REALIGN_3_PRIME,|inframe_deletion|MODERATE|SLC35E4|ENSG00000100036|transcript|ENST00000451479|protein_coding|1/3|c.100_102delCTG|p.Leu34del|100/2030|100/612|34/203||WARNING_TRANSCRIPT_NO_START_CODON&INFO_REALIGN_3_PRIME,|sequence_feature|LOW|SLC35E4|ENSG00000100036|transmembrane_region:Transmembrane_region|ENST00000343605|protein_coding|1/2|c.168_170delGCT||||||,|sequence_feature|LOW|SLC35E4|ENSG00000100036|transmembrane_region:Transmembrane_region|ENST00000300385|protein_coding|1/2|c.168_170delGCT|||||| 22 31032608 . GCT G . . ANN=|frameshift_variant|HIGH|SLC35E4|ENSG00000100036|transcript|ENST00000343605|protein_coding|1/2|c.172_173delCT|p.Leu58fs|971/2714|172/1053|58/350||,|frameshift_variant|HIGH|SLC35E4|ENSG00000100036|transcript|ENST00000300385|protein_coding|1/2|c.172_173delCT|p.Leu58fs|817/1350|172/705|58/234||,|frameshift_variant|HIGH|SLC35E4|ENSG00000100036|transcript|ENST00000406566|protein_coding|1/3|c.172_173delCT|p.Leu58fs|300/2081|172/705|58/234||,|frameshift_variant|HIGH|SLC35E4|ENSG00000100036|transcript|ENST00000451479|protein_coding|1/3|c.100_101delCT|p.Leu34fs|100/2030|100/612|34/203||WARNING_TRANSCRIPT_NO_START_CODON,|sequence_feature|LOW|SLC35E4|ENSG00000100036|transmembrane_region:Transmembrane_region|ENST00000343605|protein_coding|1/2|c.172_173delCT||||||,|sequence_feature|LOW|SLC35E4|ENSG00000100036|transmembrane_region:Transmembrane_region|ENST00000300385|protein_coding|1/2|c.172_173delCT||||||;LOF=(SLC35E4|ENSG00000100036|4|1.00) 22 31032704 . G A . . ANN=A|synonymous_variant|LOW|SLC35E4|ENSG00000100036|transcript|ENST00000343605|protein_coding|1/2|c.267G>A|p.Val89Val|1066/2714|267/1053|89/350||,A|synonymous_variant|LOW|SLC35E4|ENSG00000100036|transcript|ENST00000300385|protein_coding|1/2|c.267G>A|p.Val89Val|912/1350|267/705|89/234||,A|synonymous_variant|LOW|SLC35E4|ENSG00000100036|transcript|ENST00000406566|protein_coding|1/3|c.267G>A|p.Val89Val|395/2081|267/705|89/234||,A|synonymous_variant|LOW|SLC35E4|ENSG00000100036|transcript|ENST00000451479|protein_coding|1/3|c.195G>A|p.Val65Val|195/2030|195/612|65/203||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|SLC35E4|ENSG00000100036|transmembrane_region:Transmembrane_region|ENST00000343605|protein_coding|1/2|c.267G>A||||||,A|sequence_feature|LOW|SLC35E4|ENSG00000100036|transmembrane_region:Transmembrane_region|ENST00000300385|protein_coding|1/2|c.267G>A|||||| 22 31032836 . G A . . ANN=A|synonymous_variant|LOW|SLC35E4|ENSG00000100036|transcript|ENST00000343605|protein_coding|1/2|c.399G>A|p.Leu133Leu|1198/2714|399/1053|133/350||,A|synonymous_variant|LOW|SLC35E4|ENSG00000100036|transcript|ENST00000300385|protein_coding|1/2|c.399G>A|p.Leu133Leu|1044/1350|399/705|133/234||,A|synonymous_variant|LOW|SLC35E4|ENSG00000100036|transcript|ENST00000406566|protein_coding|1/3|c.399G>A|p.Leu133Leu|527/2081|399/705|133/234||,A|synonymous_variant|LOW|SLC35E4|ENSG00000100036|transcript|ENST00000451479|protein_coding|1/3|c.327G>A|p.Leu109Leu|327/2030|327/612|109/203||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|SLC35E4|ENSG00000100036|compositionally_biased_region:Leu-rich|ENST00000343605|protein_coding|1/2|c.399G>A||||||,A|sequence_feature|LOW|SLC35E4|ENSG00000100036|compositionally_biased_region:Leu-rich|ENST00000343605|protein_coding|2/2|c.399G>A||||||,A|sequence_feature|LOW|SLC35E4|ENSG00000100036|domain:EamA|ENST00000343605|protein_coding|1/2|c.399G>A||||||,A|sequence_feature|LOW|SLC35E4|ENSG00000100036|domain:EamA|ENST00000300385|protein_coding|1/2|c.399G>A|||||| 22 31032881 . G A . . ANN=A|synonymous_variant|LOW|SLC35E4|ENSG00000100036|transcript|ENST00000343605|protein_coding|1/2|c.444G>A|p.Leu148Leu|1243/2714|444/1053|148/350||,A|synonymous_variant|LOW|SLC35E4|ENSG00000100036|transcript|ENST00000300385|protein_coding|1/2|c.444G>A|p.Leu148Leu|1089/1350|444/705|148/234||,A|synonymous_variant|LOW|SLC35E4|ENSG00000100036|transcript|ENST00000406566|protein_coding|1/3|c.444G>A|p.Leu148Leu|572/2081|444/705|148/234||,A|synonymous_variant|LOW|SLC35E4|ENSG00000100036|transcript|ENST00000451479|protein_coding|1/3|c.372G>A|p.Leu124Leu|372/2030|372/612|124/203||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|SLC35E4|ENSG00000100036|compositionally_biased_region:Leu-rich|ENST00000343605|protein_coding|1/2|c.444G>A||||||,A|sequence_feature|LOW|SLC35E4|ENSG00000100036|compositionally_biased_region:Leu-rich|ENST00000343605|protein_coding|2/2|c.444G>A||||||,A|sequence_feature|LOW|SLC35E4|ENSG00000100036|domain:EamA|ENST00000343605|protein_coding|1/2|c.444G>A||||||,A|sequence_feature|LOW|SLC35E4|ENSG00000100036|transmembrane_region:Transmembrane_region|ENST00000343605|protein_coding|1/2|c.444G>A||||||,A|sequence_feature|LOW|SLC35E4|ENSG00000100036|domain:EamA|ENST00000300385|protein_coding|1/2|c.444G>A||||||,A|sequence_feature|LOW|SLC35E4|ENSG00000100036|transmembrane_region:Transmembrane_region|ENST00000300385|protein_coding|1/2|c.444G>A|||||| 22 31032909 . C T . . ANN=T|missense_variant|MODERATE|SLC35E4|ENSG00000100036|transcript|ENST00000343605|protein_coding|1/2|c.472C>T|p.Arg158Cys|1271/2714|472/1053|158/350||,T|missense_variant|MODERATE|SLC35E4|ENSG00000100036|transcript|ENST00000300385|protein_coding|1/2|c.472C>T|p.Arg158Cys|1117/1350|472/705|158/234||,T|missense_variant|MODERATE|SLC35E4|ENSG00000100036|transcript|ENST00000406566|protein_coding|1/3|c.472C>T|p.Arg158Cys|600/2081|472/705|158/234||,T|missense_variant|MODERATE|SLC35E4|ENSG00000100036|transcript|ENST00000451479|protein_coding|1/3|c.400C>T|p.Arg134Cys|400/2030|400/612|134/203||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|SLC35E4|ENSG00000100036|compositionally_biased_region:Leu-rich|ENST00000343605|protein_coding|1/2|c.472C>T||||||,T|sequence_feature|LOW|SLC35E4|ENSG00000100036|compositionally_biased_region:Leu-rich|ENST00000343605|protein_coding|2/2|c.472C>T||||||,T|sequence_feature|LOW|SLC35E4|ENSG00000100036|domain:EamA|ENST00000343605|protein_coding|1/2|c.472C>T||||||,T|sequence_feature|LOW|SLC35E4|ENSG00000100036|domain:EamA|ENST00000300385|protein_coding|1/2|c.472C>T|||||| 22 31032920 . A G . . ANN=G|synonymous_variant|LOW|SLC35E4|ENSG00000100036|transcript|ENST00000343605|protein_coding|1/2|c.483A>G|p.Pro161Pro|1282/2714|483/1053|161/350||,G|synonymous_variant|LOW|SLC35E4|ENSG00000100036|transcript|ENST00000300385|protein_coding|1/2|c.483A>G|p.Pro161Pro|1128/1350|483/705|161/234||,G|synonymous_variant|LOW|SLC35E4|ENSG00000100036|transcript|ENST00000406566|protein_coding|1/3|c.483A>G|p.Pro161Pro|611/2081|483/705|161/234||,G|synonymous_variant|LOW|SLC35E4|ENSG00000100036|transcript|ENST00000451479|protein_coding|1/3|c.411A>G|p.Pro137Pro|411/2030|411/612|137/203||WARNING_TRANSCRIPT_NO_START_CODON,G|sequence_feature|LOW|SLC35E4|ENSG00000100036|compositionally_biased_region:Leu-rich|ENST00000343605|protein_coding|1/2|c.483A>G||||||,G|sequence_feature|LOW|SLC35E4|ENSG00000100036|compositionally_biased_region:Leu-rich|ENST00000343605|protein_coding|2/2|c.483A>G||||||,G|sequence_feature|LOW|SLC35E4|ENSG00000100036|domain:EamA|ENST00000343605|protein_coding|1/2|c.483A>G||||||,G|sequence_feature|LOW|SLC35E4|ENSG00000100036|domain:EamA|ENST00000300385|protein_coding|1/2|c.483A>G|||||| 22 31032926 . G T . . ANN=T|missense_variant|MODERATE|SLC35E4|ENSG00000100036|transcript|ENST00000343605|protein_coding|1/2|c.489G>T|p.Gln163His|1288/2714|489/1053|163/350||,T|missense_variant|MODERATE|SLC35E4|ENSG00000100036|transcript|ENST00000300385|protein_coding|1/2|c.489G>T|p.Gln163His|1134/1350|489/705|163/234||,T|missense_variant|MODERATE|SLC35E4|ENSG00000100036|transcript|ENST00000406566|protein_coding|1/3|c.489G>T|p.Gln163His|617/2081|489/705|163/234||,T|missense_variant|MODERATE|SLC35E4|ENSG00000100036|transcript|ENST00000451479|protein_coding|1/3|c.417G>T|p.Gln139His|417/2030|417/612|139/203||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|SLC35E4|ENSG00000100036|compositionally_biased_region:Leu-rich|ENST00000343605|protein_coding|1/2|c.489G>T||||||,T|sequence_feature|LOW|SLC35E4|ENSG00000100036|compositionally_biased_region:Leu-rich|ENST00000343605|protein_coding|2/2|c.489G>T||||||,T|sequence_feature|LOW|SLC35E4|ENSG00000100036|domain:EamA|ENST00000343605|protein_coding|1/2|c.489G>T||||||,T|sequence_feature|LOW|SLC35E4|ENSG00000100036|domain:EamA|ENST00000300385|protein_coding|1/2|c.489G>T|||||| 22 31032952 . T G . . ANN=G|missense_variant|MODERATE|SLC35E4|ENSG00000100036|transcript|ENST00000343605|protein_coding|1/2|c.515T>G|p.Leu172Arg|1314/2714|515/1053|172/350||,G|missense_variant|MODERATE|SLC35E4|ENSG00000100036|transcript|ENST00000300385|protein_coding|1/2|c.515T>G|p.Leu172Arg|1160/1350|515/705|172/234||,G|missense_variant|MODERATE|SLC35E4|ENSG00000100036|transcript|ENST00000406566|protein_coding|1/3|c.515T>G|p.Leu172Arg|643/2081|515/705|172/234||,G|missense_variant|MODERATE|SLC35E4|ENSG00000100036|transcript|ENST00000451479|protein_coding|1/3|c.443T>G|p.Leu148Arg|443/2030|443/612|148/203||WARNING_TRANSCRIPT_NO_START_CODON,G|sequence_feature|LOW|SLC35E4|ENSG00000100036|compositionally_biased_region:Leu-rich|ENST00000343605|protein_coding|1/2|c.515T>G||||||,G|sequence_feature|LOW|SLC35E4|ENSG00000100036|compositionally_biased_region:Leu-rich|ENST00000343605|protein_coding|2/2|c.515T>G||||||,G|sequence_feature|LOW|SLC35E4|ENSG00000100036|domain:EamA|ENST00000343605|protein_coding|1/2|c.515T>G||||||,G|sequence_feature|LOW|SLC35E4|ENSG00000100036|domain:EamA|ENST00000300385|protein_coding|1/2|c.515T>G|||||| 22 31033016 . C T . . ANN=T|synonymous_variant|LOW|SLC35E4|ENSG00000100036|transcript|ENST00000343605|protein_coding|1/2|c.579C>T|p.Leu193Leu|1378/2714|579/1053|193/350||,T|synonymous_variant|LOW|SLC35E4|ENSG00000100036|transcript|ENST00000300385|protein_coding|1/2|c.579C>T|p.Leu193Leu|1224/1350|579/705|193/234||,T|synonymous_variant|LOW|SLC35E4|ENSG00000100036|transcript|ENST00000406566|protein_coding|1/3|c.579C>T|p.Leu193Leu|707/2081|579/705|193/234||,T|synonymous_variant|LOW|SLC35E4|ENSG00000100036|transcript|ENST00000451479|protein_coding|1/3|c.507C>T|p.Leu169Leu|507/2030|507/612|169/203||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|SLC35E4|ENSG00000100036|compositionally_biased_region:Leu-rich|ENST00000343605|protein_coding|1/2|c.579C>T||||||,T|sequence_feature|LOW|SLC35E4|ENSG00000100036|compositionally_biased_region:Leu-rich|ENST00000343605|protein_coding|2/2|c.579C>T|||||| 22 31042592 . G A . . ANN=A|synonymous_variant|LOW|SLC35E4|ENSG00000100036|transcript|ENST00000343605|protein_coding|2/2|c.627G>A|p.Leu209Leu|1426/2714|627/1053|209/350||,A|sequence_feature|LOW|SLC35E4|ENSG00000100036|compositionally_biased_region:Leu-rich|ENST00000343605|protein_coding|1/2|c.627G>A||||||,A|sequence_feature|LOW|SLC35E4|ENSG00000100036|compositionally_biased_region:Leu-rich|ENST00000343605|protein_coding|2/2|c.627G>A||||||,A|intron_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000300385|protein_coding|1/1|c.620-2555G>A||||||,A|intron_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000406566|protein_coding|1/2|c.620-2555G>A||||||,A|intron_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000451479|protein_coding|1/2|c.547+9536G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 31042606 . G A . . ANN=A|missense_variant|MODERATE|SLC35E4|ENSG00000100036|transcript|ENST00000343605|protein_coding|2/2|c.641G>A|p.Arg214Lys|1440/2714|641/1053|214/350||,A|sequence_feature|LOW|SLC35E4|ENSG00000100036|compositionally_biased_region:Leu-rich|ENST00000343605|protein_coding|1/2|c.641G>A||||||,A|sequence_feature|LOW|SLC35E4|ENSG00000100036|compositionally_biased_region:Leu-rich|ENST00000343605|protein_coding|2/2|c.641G>A||||||,A|intron_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000300385|protein_coding|1/1|c.620-2541G>A||||||,A|intron_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000406566|protein_coding|1/2|c.620-2541G>A||||||,A|intron_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000451479|protein_coding|1/2|c.547+9550G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 31042664 . G A . . ANN=A|synonymous_variant|LOW|SLC35E4|ENSG00000100036|transcript|ENST00000343605|protein_coding|2/2|c.699G>A|p.Ala233Ala|1498/2714|699/1053|233/350||,A|sequence_feature|LOW|SLC35E4|ENSG00000100036|compositionally_biased_region:Leu-rich|ENST00000343605|protein_coding|1/2|c.699G>A||||||,A|sequence_feature|LOW|SLC35E4|ENSG00000100036|compositionally_biased_region:Leu-rich|ENST00000343605|protein_coding|2/2|c.699G>A||||||,A|sequence_feature|LOW|SLC35E4|ENSG00000100036|transmembrane_region:Transmembrane_region|ENST00000343605|protein_coding|2/2|c.699G>A||||||,A|intron_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000300385|protein_coding|1/1|c.620-2483G>A||||||,A|intron_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000406566|protein_coding|1/2|c.620-2483G>A||||||,A|intron_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000451479|protein_coding|1/2|c.547+9608G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 31042881 . C T . . ANN=T|missense_variant|MODERATE|SLC35E4|ENSG00000100036|transcript|ENST00000343605|protein_coding|2/2|c.916C>T|p.Arg306Cys|1715/2714|916/1053|306/350||,T|sequence_feature|LOW|SLC35E4|ENSG00000100036|compositionally_biased_region:Leu-rich|ENST00000343605|protein_coding|1/2|c.916C>T||||||,T|sequence_feature|LOW|SLC35E4|ENSG00000100036|compositionally_biased_region:Leu-rich|ENST00000343605|protein_coding|2/2|c.916C>T||||||,T|intron_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000300385|protein_coding|1/1|c.620-2266C>T||||||,T|intron_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000406566|protein_coding|1/2|c.620-2266C>T||||||,T|intron_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000451479|protein_coding|1/2|c.547+9825C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 31042955 . C T . . ANN=T|synonymous_variant|LOW|SLC35E4|ENSG00000100036|transcript|ENST00000343605|protein_coding|2/2|c.990C>T|p.Phe330Phe|1789/2714|990/1053|330/350||,T|sequence_feature|LOW|SLC35E4|ENSG00000100036|transmembrane_region:Transmembrane_region|ENST00000343605|protein_coding|2/2|c.990C>T||||||,T|intron_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000300385|protein_coding|1/1|c.620-2192C>T||||||,T|intron_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000406566|protein_coding|1/2|c.620-2192C>T||||||,T|intron_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000451479|protein_coding|1/2|c.547+9899C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 31042974 . C T . . ANN=T|missense_variant|MODERATE|SLC35E4|ENSG00000100036|transcript|ENST00000343605|protein_coding|2/2|c.1009C>T|p.Arg337Cys|1808/2714|1009/1053|337/350||,T|intron_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000300385|protein_coding|1/1|c.620-2173C>T||||||,T|intron_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000406566|protein_coding|1/2|c.620-2173C>T||||||,T|intron_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000451479|protein_coding|1/2|c.547+9918C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 31042989 . C T . . ANN=T|missense_variant|MODERATE|SLC35E4|ENSG00000100036|transcript|ENST00000343605|protein_coding|2/2|c.1024C>T|p.Arg342Trp|1823/2714|1024/1053|342/350||,T|intron_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000300385|protein_coding|1/1|c.620-2158C>T||||||,T|intron_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000406566|protein_coding|1/2|c.620-2158C>T||||||,T|intron_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000451479|protein_coding|1/2|c.547+9933C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 31043064 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000343605|protein_coding|2/2|c.*46T>C|||||46|,C|downstream_gene_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000430175|nonsense_mediated_decay||n.*70A>G|||||4974|,C|downstream_gene_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000404885|protein_coding||c.*1026A>G|||||4974|,C|downstream_gene_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000407308|protein_coding||c.*1698A>G|||||4974|,C|intron_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000300385|protein_coding|1/1|c.620-2083T>C||||||,C|intron_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000406566|protein_coding|1/2|c.620-2083T>C||||||,C|intron_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000451479|protein_coding|1/2|c.547+10008T>C||||||WARNING_TRANSCRIPT_NO_START_CODON 22 31059380 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000334679|protein_coding|2/2|c.*44A>G|||||44|,C|3_prime_UTR_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000377087|nonsense_mediated_decay|2/3|n.*44A>G|||||44|,C|3_prime_UTR_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000412865|nonsense_mediated_decay|1/2|n.*44A>G|||||44|,C|3_prime_UTR_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000403268|protein_coding|3/3|c.*147A>G|||||147|,C|downstream_gene_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000406566|protein_coding||c.*833T>C|||||94|,C|downstream_gene_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000342474|protein_coding||c.*1157A>G|||||122|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000442752|protein_coding||c.*657A>G|||||578|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000451479|protein_coding|1/2|c.548-2100T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000430175|nonsense_mediated_decay|1/2|n.*33+11A>G||||||,C|intron_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000404885|protein_coding|2/2|c.*33+11A>G||||||,C|intron_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000407308|protein_coding|2/2|c.*33+11A>G||||||,C|intron_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000461301|processed_transcript|2/2|n.558+3414A>G||||||,C|non_coding_exon_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000377087|nonsense_mediated_decay|2/3|n.*44A>G||||||,C|non_coding_exon_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000412865|nonsense_mediated_decay|1/2|n.*44A>G|||||| 22 31059444 . G A . . ANN=A|missense_variant|MODERATE|DUSP18|ENSG00000167065|transcript|ENST00000334679|protein_coding|2/2|c.547C>T|p.Arg183Cys|1053/2479|547/567|183/188||,A|missense_variant|MODERATE|DUSP18|ENSG00000167065|transcript|ENST00000404885|protein_coding|2/3|c.547C>T|p.Arg183Cys|1006/1306|547/567|183/188||,A|missense_variant|MODERATE|DUSP18|ENSG00000167065|transcript|ENST00000407308|protein_coding|2/3|c.547C>T|p.Arg183Cys|1678/1978|547/567|183/188||,A|3_prime_UTR_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000403268|protein_coding|3/3|c.*83C>T|||||83|,A|downstream_gene_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000406566|protein_coding||c.*833G>A|||||158|,A|downstream_gene_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000342474|protein_coding||c.*1157C>T|||||58|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000442752|protein_coding||c.*657C>T|||||514|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000451479|protein_coding|1/2|c.548-2036G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000461301|processed_transcript|2/2|n.558+3350C>T||||||,A|non_coding_exon_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000430175|nonsense_mediated_decay|1/3|n.49C>T||||||,A|non_coding_exon_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000377087|nonsense_mediated_decay|2/3|n.547C>T||||||,A|non_coding_exon_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000412865|nonsense_mediated_decay|1/2|n.1C>T|||||| 22 31059446 . A T . . ANN=T|missense_variant|MODERATE|DUSP18|ENSG00000167065|transcript|ENST00000334679|protein_coding|2/2|c.545T>A|p.Val182Asp|1051/2479|545/567|182/188||,T|missense_variant|MODERATE|DUSP18|ENSG00000167065|transcript|ENST00000404885|protein_coding|2/3|c.545T>A|p.Val182Asp|1004/1306|545/567|182/188||,T|missense_variant|MODERATE|DUSP18|ENSG00000167065|transcript|ENST00000407308|protein_coding|2/3|c.545T>A|p.Val182Asp|1676/1978|545/567|182/188||,T|3_prime_UTR_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000403268|protein_coding|3/3|c.*81T>A|||||81|,T|upstream_gene_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000412865|nonsense_mediated_decay||n.-1T>A|||||2|,T|downstream_gene_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000406566|protein_coding||c.*833A>T|||||160|,T|downstream_gene_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000342474|protein_coding||c.*1157T>A|||||56|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000442752|protein_coding||c.*657T>A|||||512|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000451479|protein_coding|1/2|c.548-2034A>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000461301|processed_transcript|2/2|n.558+3348T>A||||||,T|non_coding_exon_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000430175|nonsense_mediated_decay|1/3|n.47T>A||||||,T|non_coding_exon_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000377087|nonsense_mediated_decay|2/3|n.545T>A|||||| 22 31059498 . GCA G . . ANN=|frameshift_variant|HIGH|DUSP18|ENSG00000167065|transcript|ENST00000334679|protein_coding|2/2|c.491_492delTG|p.Val164fs|998/2479|491/567|164/188||,|frameshift_variant|HIGH|DUSP18|ENSG00000167065|transcript|ENST00000404885|protein_coding|2/3|c.491_492delTG|p.Val164fs|951/1306|491/567|164/188||,|frameshift_variant|HIGH|DUSP18|ENSG00000167065|transcript|ENST00000407308|protein_coding|2/3|c.491_492delTG|p.Val164fs|1623/1978|491/567|164/188||,|3_prime_UTR_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000403268|protein_coding|3/3|c.*27_*28delTG|||||27|,|upstream_gene_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000430175|nonsense_mediated_decay||n.-2_-2delTG|||||6|,|upstream_gene_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000412865|nonsense_mediated_decay||n.-1_-1delTG|||||55|,|downstream_gene_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000406566|protein_coding||c.*833_*833delCA|||||213|,|downstream_gene_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000342474|protein_coding||c.*1157_*1157delTG|||||3|WARNING_TRANSCRIPT_NO_STOP_CODON,|downstream_gene_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000442752|protein_coding||c.*657_*657delTG|||||459|WARNING_TRANSCRIPT_NO_STOP_CODON,|intron_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000451479|protein_coding|1/2|c.548-1979_548-1978delCA||||||WARNING_TRANSCRIPT_NO_START_CODON&INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000461301|processed_transcript|2/2|n.558+3294_558+3295delTG||||||,|non_coding_exon_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000377087|nonsense_mediated_decay|2/3|n.491_492delTG||||||;LOF=(DUSP18|ENSG00000167065|10|0.30) 22 31059504 . T C . . ANN=C|missense_variant|MODERATE|DUSP18|ENSG00000167065|transcript|ENST00000334679|protein_coding|2/2|c.487A>G|p.Thr163Ala|993/2479|487/567|163/188||,C|missense_variant|MODERATE|DUSP18|ENSG00000167065|transcript|ENST00000404885|protein_coding|2/3|c.487A>G|p.Thr163Ala|946/1306|487/567|163/188||,C|missense_variant|MODERATE|DUSP18|ENSG00000167065|transcript|ENST00000407308|protein_coding|2/3|c.487A>G|p.Thr163Ala|1618/1978|487/567|163/188||,C|missense_variant&splice_region_variant|MODERATE|DUSP18|ENSG00000167065|transcript|ENST00000342474|protein_coding|3/3|c.487A>G|p.Thr163Ala|1155/1157|487/489|163/162||WARNING_TRANSCRIPT_NO_STOP_CODON,C|3_prime_UTR_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000403268|protein_coding|3/3|c.*23A>G|||||23|,C|upstream_gene_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000430175|nonsense_mediated_decay||n.-2A>G|||||11|,C|upstream_gene_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000412865|nonsense_mediated_decay||n.-1A>G|||||60|,C|downstream_gene_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000406566|protein_coding||c.*833T>C|||||218|,C|downstream_gene_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000442752|protein_coding||c.*657A>G|||||454|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000451479|protein_coding|1/2|c.548-1976T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000461301|processed_transcript|2/2|n.558+3290A>G||||||,C|non_coding_exon_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000377087|nonsense_mediated_decay|2/3|n.487A>G|||||| 22 31059663 . G A . . ANN=A|missense_variant|MODERATE|DUSP18|ENSG00000167065|transcript|ENST00000334679|protein_coding|2/2|c.328C>T|p.Arg110Cys|834/2479|328/567|110/188||,A|missense_variant|MODERATE|DUSP18|ENSG00000167065|transcript|ENST00000404885|protein_coding|2/3|c.328C>T|p.Arg110Cys|787/1306|328/567|110/188||,A|missense_variant|MODERATE|DUSP18|ENSG00000167065|transcript|ENST00000407308|protein_coding|2/3|c.328C>T|p.Arg110Cys|1459/1978|328/567|110/188||,A|missense_variant|MODERATE|DUSP18|ENSG00000167065|transcript|ENST00000403268|protein_coding|3/3|c.218C>T|p.Pro73Leu|689/2920|218/354|73/117||,A|missense_variant|MODERATE|DUSP18|ENSG00000167065|transcript|ENST00000342474|protein_coding|3/3|c.328C>T|p.Arg110Cys|996/1157|328/489|110/162||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|DUSP18|ENSG00000167065|domain:Tyrosine-protein_phosphatase|ENST00000404885|protein_coding|2/3|c.328C>T||||||,A|sequence_feature|LOW|DUSP18|ENSG00000167065|helix|ENST00000404885|protein_coding|2/3|c.328C>T||||||,A|upstream_gene_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000430175|nonsense_mediated_decay||n.-2C>T|||||170|,A|upstream_gene_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000412865|nonsense_mediated_decay||n.-1C>T|||||219|,A|downstream_gene_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000406566|protein_coding||c.*833G>A|||||377|,A|downstream_gene_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000442752|protein_coding||c.*657C>T|||||295|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000451479|protein_coding|1/2|c.548-1817G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000461301|processed_transcript|2/2|n.558+3131C>T||||||,A|non_coding_exon_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000377087|nonsense_mediated_decay|2/3|n.328C>T|||||| 22 31059865 . A G . . ANN=G|synonymous_variant|LOW|DUSP18|ENSG00000167065|transcript|ENST00000334679|protein_coding|2/2|c.126T>C|p.Ser42Ser|632/2479|126/567|42/188||,G|synonymous_variant|LOW|DUSP18|ENSG00000167065|transcript|ENST00000404885|protein_coding|2/3|c.126T>C|p.Ser42Ser|585/1306|126/567|42/188||,G|synonymous_variant|LOW|DUSP18|ENSG00000167065|transcript|ENST00000407308|protein_coding|2/3|c.126T>C|p.Ser42Ser|1257/1978|126/567|42/188||,G|synonymous_variant|LOW|DUSP18|ENSG00000167065|transcript|ENST00000403268|protein_coding|2/3|c.126T>C|p.Ser42Ser|597/2920|126/354|42/117||,G|synonymous_variant|LOW|DUSP18|ENSG00000167065|transcript|ENST00000342474|protein_coding|3/3|c.126T>C|p.Ser42Ser|794/1157|126/489|42/162||WARNING_TRANSCRIPT_NO_STOP_CODON,G|sequence_feature|LOW|DUSP18|ENSG00000167065|helix|ENST00000404885|protein_coding|2/3|c.126T>C||||||,G|upstream_gene_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000430175|nonsense_mediated_decay||n.-2T>C|||||372|,G|upstream_gene_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000412865|nonsense_mediated_decay||n.-1T>C|||||421|,G|downstream_gene_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000406566|protein_coding||c.*833A>G|||||579|,G|downstream_gene_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000442752|protein_coding||c.*657T>C|||||93|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000451479|protein_coding|1/2|c.548-1615A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000461301|processed_transcript|2/2|n.558+2929T>C||||||,G|non_coding_exon_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000377087|nonsense_mediated_decay|2/3|n.126T>C|||||| 22 31059929 . G GA . . ANN=A|frameshift_variant|HIGH|DUSP18|ENSG00000167065|transcript|ENST00000334679|protein_coding|2/2|c.61dupT|p.Ser21fs|567/2479|61/567|21/188||,A|frameshift_variant|HIGH|DUSP18|ENSG00000167065|transcript|ENST00000404885|protein_coding|2/3|c.61dupT|p.Ser21fs|520/1306|61/567|21/188||,A|frameshift_variant|HIGH|DUSP18|ENSG00000167065|transcript|ENST00000407308|protein_coding|2/3|c.61dupT|p.Ser21fs|1192/1978|61/567|21/188||,A|frameshift_variant|HIGH|DUSP18|ENSG00000167065|transcript|ENST00000403268|protein_coding|2/3|c.61dupT|p.Ser21fs|532/2920|61/354|21/117||,A|frameshift_variant|HIGH|DUSP18|ENSG00000167065|transcript|ENST00000342474|protein_coding|3/3|c.61dupT|p.Ser21fs|729/1157|61/489|21/162||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|DUSP18|ENSG00000167065|beta_strand|ENST00000404885|protein_coding|2/3|c.61dupT||||||,A|upstream_gene_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000430175|nonsense_mediated_decay||n.-2dupT|||||437|,A|upstream_gene_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000412865|nonsense_mediated_decay||n.-1dupT|||||486|,A|downstream_gene_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000406566|protein_coding||c.*833_*833insA|||||644|,A|downstream_gene_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000442752|protein_coding||c.*657dupT|||||28|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000451479|protein_coding|1/2|c.548-1550dupA||||||WARNING_TRANSCRIPT_NO_START_CODON&INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000461301|processed_transcript|2/2|n.558+2864dupT||||||,A|non_coding_exon_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000377087|nonsense_mediated_decay|2/3|n.61dupT||||||;LOF=(DUSP18|ENSG00000167065|10|0.50) 22 31060029 . G C . . ANN=C|5_prime_UTR_premature_start_codon_gain_variant|LOW|DUSP18|ENSG00000167065|transcript|ENST00000334679|protein_coding|2/2|c.-39C>G||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|DUSP18|ENSG00000167065|transcript|ENST00000404885|protein_coding|2/3|c.-39C>G||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|DUSP18|ENSG00000167065|transcript|ENST00000407308|protein_coding|2/3|c.-39C>G||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|DUSP18|ENSG00000167065|transcript|ENST00000377087|nonsense_mediated_decay|2/3|n.-39C>G||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|DUSP18|ENSG00000167065|transcript|ENST00000403268|protein_coding|2/3|c.-39C>G||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|DUSP18|ENSG00000167065|transcript|ENST00000342474|protein_coding|3/3|c.-39C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|DUSP18|ENSG00000167065|transcript|ENST00000442752|protein_coding|2/2|c.-39C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|5_prime_UTR_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000334679|protein_coding|2/2|c.-39C>G|||||39|,C|5_prime_UTR_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000404885|protein_coding|2/3|c.-39C>G|||||39|,C|5_prime_UTR_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000407308|protein_coding|2/3|c.-39C>G|||||39|,C|5_prime_UTR_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000377087|nonsense_mediated_decay|2/3|n.-39C>G|||||39|,C|5_prime_UTR_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000403268|protein_coding|2/3|c.-39C>G|||||39|,C|5_prime_UTR_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000342474|protein_coding|3/3|c.-39C>G|||||39|WARNING_TRANSCRIPT_NO_STOP_CODON,C|5_prime_UTR_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000442752|protein_coding|2/2|c.-39C>G|||||39|WARNING_TRANSCRIPT_NO_STOP_CODON,C|upstream_gene_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000430175|nonsense_mediated_decay||n.-2C>G|||||536|,C|upstream_gene_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000412865|nonsense_mediated_decay||n.-1C>G|||||585|,C|downstream_gene_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000406566|protein_coding||c.*833G>C|||||743|,C|intron_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000451479|protein_coding|1/2|c.548-1451G>C||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000461301|processed_transcript|2/2|n.558+2765C>G||||||,C|non_coding_exon_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000377087|nonsense_mediated_decay|2/3|n.-39C>G|||||| 22 31090869 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|1/14|c.-28C>T|||||28|,T|5_prime_UTR_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|1/12|c.-28C>T|||||28|,T|upstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding||c.-22C>T|||||7|,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000438716|protein_coding|2/2|c.149+538C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|2/14|c.149+538C>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|1/13|c.125+538C>T|||||| 22 31090879 . C A . . ANN=A|5_prime_UTR_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|1/14|c.-18C>A|||||18|,A|5_prime_UTR_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|1/12|c.-18C>A|||||18|,A|5_prime_UTR_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|1/14|c.-18C>A|||||18|,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000438716|protein_coding|2/2|c.149+548C>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|2/14|c.149+548C>A||||||,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|1/13|c.125+548C>A|||||| 22 31090971 . G C . . ANN=C|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|1/14|c.75G>C|p.Thr25Thr|179/4340|75/2751|25/916||,C|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|1/12|c.75G>C|p.Thr25Thr|111/2992|75/2625|25/874||,C|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|1/14|c.75G>C|p.Thr25Thr|96/2836|75/2748|25/915||,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000438716|protein_coding|2/2|c.149+640G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|2/14|c.149+640G>C||||||,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|1/13|c.125+640G>C|||||| 22 31091064 . C T . . ANN=T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|1/14|c.168C>T|p.Pro56Pro|272/4340|168/2751|56/916||,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|1/12|c.168C>T|p.Pro56Pro|204/2992|168/2625|56/874||,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|1/14|c.168C>T|p.Pro56Pro|189/2836|168/2748|56/915||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000438716|protein_coding|2/2|c.149+733C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|2/14|c.149+733C>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|1/13|c.125+733C>T|||||| 22 31091139 . A G . . ANN=G|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|1/14|c.243A>G|p.Glu81Glu|347/4340|243/2751|81/916||,G|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|1/12|c.243A>G|p.Glu81Glu|279/2992|243/2625|81/874||,G|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|1/14|c.243A>G|p.Glu81Glu|264/2836|243/2748|81/915||,G|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000438716|protein_coding|2/2|c.149+808A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|2/14|c.149+808A>G||||||,G|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|1/13|c.125+808A>G|||||| 22 31091154 . G A . . ANN=A|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|1/14|c.258G>A|p.Thr86Thr|362/4340|258/2751|86/916||,A|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|1/12|c.258G>A|p.Thr86Thr|294/2992|258/2625|86/874||,A|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|1/14|c.258G>A|p.Thr86Thr|279/2836|258/2748|86/915||,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000438716|protein_coding|2/2|c.149+823G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|2/14|c.149+823G>A||||||,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|1/13|c.125+823G>A|||||| 22 31091250 . C T . . ANN=T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|1/14|c.354C>T|p.Pro118Pro|458/4340|354/2751|118/916||,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|1/12|c.354C>T|p.Pro118Pro|390/2992|354/2625|118/874||,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|1/14|c.354C>T|p.Pro118Pro|375/2836|354/2748|118/915||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000438716|protein_coding|2/2|c.149+919C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|2/14|c.149+919C>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|1/13|c.125+919C>T|||||| 22 31091263 . G A . . ANN=A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|1/14|c.367G>A|p.Ala123Thr|471/4340|367/2751|123/916||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|1/12|c.367G>A|p.Ala123Thr|403/2992|367/2625|123/874||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|1/14|c.367G>A|p.Ala123Thr|388/2836|367/2748|123/915||,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000438716|protein_coding|2/2|c.149+932G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|2/14|c.149+932G>A||||||,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|1/13|c.125+932G>A|||||| 22 31091265 . A G . . ANN=G|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|1/14|c.369A>G|p.Ala123Ala|473/4340|369/2751|123/916||,G|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|1/12|c.369A>G|p.Ala123Ala|405/2992|369/2625|123/874||,G|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|1/14|c.369A>G|p.Ala123Ala|390/2836|369/2748|123/915||,G|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000438716|protein_coding|2/2|c.149+934A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|2/14|c.149+934A>G||||||,G|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|1/13|c.125+934A>G|||||| 22 31091305 . C T . . ANN=T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|1/14|c.409C>T|p.Leu137Phe|513/4340|409/2751|137/916||,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|1/12|c.409C>T|p.Leu137Phe|445/2992|409/2625|137/874||,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|1/14|c.409C>T|p.Leu137Phe|430/2836|409/2748|137/915||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000438716|protein_coding|2/2|c.149+974C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|2/14|c.149+974C>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|1/13|c.125+974C>T|||||| 22 31091347 . C T . . ANN=T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|1/14|c.451C>T|p.Pro151Ser|555/4340|451/2751|151/916||,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|1/12|c.451C>T|p.Pro151Ser|487/2992|451/2625|151/874||,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|1/14|c.451C>T|p.Pro151Ser|472/2836|451/2748|151/915||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000438716|protein_coding|2/2|c.149+1016C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|2/14|c.149+1016C>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|1/13|c.125+1016C>T|||||| 22 31091382 . T C . . ANN=C|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|1/14|c.486T>C|p.Leu162Leu|590/4340|486/2751|162/916||,C|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|1/12|c.486T>C|p.Leu162Leu|522/2992|486/2625|162/874||,C|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|1/14|c.486T>C|p.Leu162Leu|507/2836|486/2748|162/915||,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000438716|protein_coding|2/2|c.149+1051T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|2/14|c.149+1051T>C||||||,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|1/13|c.125+1051T>C|||||| 22 31091429 . C T . . ANN=T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|1/14|c.533C>T|p.Ala178Val|637/4340|533/2751|178/916||,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|1/12|c.533C>T|p.Ala178Val|569/2992|533/2625|178/874||,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|1/14|c.533C>T|p.Ala178Val|554/2836|533/2748|178/915||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000438716|protein_coding|2/2|c.149+1098C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|2/14|c.149+1098C>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|1/13|c.125+1098C>T|||||| 22 31091525 . T G . . ANN=G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|1/14|c.629T>G|p.Leu210Trp|733/4340|629/2751|210/916||,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|1/12|c.629T>G|p.Leu210Trp|665/2992|629/2625|210/874||,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|1/14|c.629T>G|p.Leu210Trp|650/2836|629/2748|210/915||,G|sequence_feature|LOW|OSBP2|ENSG00000184792|domain:PH|ENST00000332585|protein_coding|2/14|c.629T>G||||||,G|sequence_feature|LOW|OSBP2|ENSG00000184792|domain:PH|ENST00000332585|protein_coding|1/14|c.629T>G||||||,G|sequence_feature|LOW|OSBP2|ENSG00000184792|domain:PH|ENST00000446658|protein_coding|1/14|c.629T>G||||||,G|sequence_feature|LOW|OSBP2|ENSG00000184792|domain:PH|ENST00000446658|protein_coding|2/14|c.629T>G||||||,G|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000438716|protein_coding|2/2|c.149+1194T>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|2/14|c.149+1194T>G||||||,G|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|1/13|c.125+1194T>G|||||| 22 31137298 . G C . . ANN=C|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|2/14|c.795G>C|p.Trp265Cys|899/4340|795/2751|265/916||,C|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000438716|protein_coding|3/3|c.300G>C|p.Trp100Cys|579/635|300/356|100/117||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|3/15|c.300G>C|p.Trp100Cys|579/2747|300/2253|100/750||,C|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|2/14|c.276G>C|p.Trp92Cys|420/3669|276/2232|92/743||,C|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|2/12|c.795G>C|p.Trp265Cys|831/2992|795/2625|265/874||,C|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|2/14|c.795G>C|p.Trp265Cys|816/2836|795/2748|265/915||,C|sequence_feature|LOW|OSBP2|ENSG00000184792|domain:PH|ENST00000332585|protein_coding|2/14|c.795G>C||||||,C|sequence_feature|LOW|OSBP2|ENSG00000184792|domain:PH|ENST00000332585|protein_coding|1/14|c.795G>C||||||,C|sequence_feature|LOW|OSBP2|ENSG00000184792|domain:PH|ENST00000446658|protein_coding|1/14|c.795G>C||||||,C|sequence_feature|LOW|OSBP2|ENSG00000184792|domain:PH|ENST00000446658|protein_coding|2/14|c.795G>C|||||| 22 31266373 . C T . . ANN=T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|2/13|c.854-43C>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|3/14|c.359-43C>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|2/13|c.335-43C>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|2/11|c.854-43C>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|2/13|c.854-43C>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000477355|processed_transcript|3/3|n.363-43C>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000445781|protein_coding|2/3|c.-245-43C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|1/12|c.-245-43C>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000496367|processed_transcript|1/2|n.23-43C>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000424224|protein_coding|1/5|c.-245-43C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|1/12|c.80-43C>T|||||| 22 31266546 . T C . . ANN=C|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|3/14|c.984T>C|p.Ala328Ala|1088/4340|984/2751|328/916||,C|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|4/15|c.489T>C|p.Ala163Ala|768/2747|489/2253|163/750||,C|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|3/14|c.465T>C|p.Ala155Ala|609/3669|465/2232|155/743||,C|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|3/12|c.984T>C|p.Ala328Ala|1020/2992|984/2625|328/874||,C|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|3/14|c.984T>C|p.Ala328Ala|1005/2836|984/2748|328/915||,C|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|2/13|c.210T>C|p.Ala70Ala|325/2470|210/1980|70/659||,C|5_prime_UTR_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000445781|protein_coding|3/4|c.-115T>C|||||115|WARNING_TRANSCRIPT_NO_STOP_CODON,C|5_prime_UTR_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|2/13|c.-115T>C|||||115|,C|5_prime_UTR_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000424224|protein_coding|2/6|c.-115T>C|||||115|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000477355|processed_transcript|4/4|n.493T>C||||||,C|non_coding_exon_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000496367|processed_transcript|2/3|n.153T>C|||||| 22 31266552 . C T . . ANN=T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|3/14|c.990C>T|p.Leu330Leu|1094/4340|990/2751|330/916||,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|4/15|c.495C>T|p.Leu165Leu|774/2747|495/2253|165/750||,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|3/14|c.471C>T|p.Leu157Leu|615/3669|471/2232|157/743||,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|3/12|c.990C>T|p.Leu330Leu|1026/2992|990/2625|330/874||,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|3/14|c.990C>T|p.Leu330Leu|1011/2836|990/2748|330/915||,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|2/13|c.216C>T|p.Leu72Leu|331/2470|216/1980|72/659||,T|5_prime_UTR_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000445781|protein_coding|3/4|c.-109C>T|||||109|WARNING_TRANSCRIPT_NO_STOP_CODON,T|5_prime_UTR_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|2/13|c.-109C>T|||||109|,T|5_prime_UTR_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000424224|protein_coding|2/6|c.-109C>T|||||109|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000477355|processed_transcript|4/4|n.499C>T||||||,T|non_coding_exon_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000496367|processed_transcript|2/3|n.159C>T|||||| 22 31266574 . G A . . ANN=A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|3/14|c.1012G>A|p.Asp338Asn|1116/4340|1012/2751|338/916||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|4/15|c.517G>A|p.Asp173Asn|796/2747|517/2253|173/750||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|3/14|c.493G>A|p.Asp165Asn|637/3669|493/2232|165/743||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|3/12|c.1012G>A|p.Asp338Asn|1048/2992|1012/2625|338/874||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|3/14|c.1012G>A|p.Asp338Asn|1033/2836|1012/2748|338/915||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|2/13|c.238G>A|p.Asp80Asn|353/2470|238/1980|80/659||,A|5_prime_UTR_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000445781|protein_coding|3/4|c.-87G>A|||||87|WARNING_TRANSCRIPT_NO_STOP_CODON,A|5_prime_UTR_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|2/13|c.-87G>A|||||87|,A|5_prime_UTR_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000424224|protein_coding|2/6|c.-87G>A|||||87|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000477355|processed_transcript|4/4|n.521G>A||||||,A|non_coding_exon_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000496367|processed_transcript|2/3|n.181G>A|||||| 22 31266699 . G A . . ANN=A|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000477355|processed_transcript||n.*547G>A|||||99|,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|3/13|c.1107+30G>A||||||,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|4/14|c.612+30G>A||||||,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|3/13|c.588+30G>A||||||,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|3/11|c.1107+30G>A||||||,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|3/13|c.1107+30G>A||||||,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000445781|protein_coding|3/3|c.9+30G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|2/12|c.9+30G>A||||||,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000496367|processed_transcript|2/2|n.276+30G>A||||||,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000424224|protein_coding|2/5|c.9+30G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|2/12|c.333+30G>A|||||| 22 31283376 . A T . . ANN=T|upstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000452656|protein_coding||c.-1A>T|||||37|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000496575|processed_transcript||n.-1A>T|||||3560|,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|3/13|c.1108-37A>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|4/14|c.613-37A>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|3/13|c.589-37A>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|3/11|c.1108-37A>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|3/13|c.1108-37A>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000445781|protein_coding|3/3|c.10-37A>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|2/12|c.10-37A>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000424224|protein_coding|2/5|c.10-37A>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|2/12|c.334-37A>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000454145|protein_coding|1/4|c.121-37A>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000453621|protein_coding|1/6|c.121-37A>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000535268|protein_coding|1/11|c.-258-37A>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000431368|protein_coding|1/11|c.121-37A>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 31283427 . C T . . ANN=T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|4/14|c.1122C>T|p.Phe374Phe|1226/4340|1122/2751|374/916||,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|5/15|c.627C>T|p.Phe209Phe|906/2747|627/2253|209/750||,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|4/14|c.603C>T|p.Phe201Phe|747/3669|603/2232|201/743||,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|4/12|c.1122C>T|p.Phe374Phe|1158/2992|1122/2625|374/874||,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|4/14|c.1122C>T|p.Phe374Phe|1143/2836|1122/2748|374/915||,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000445781|protein_coding|4/4|c.24C>T|p.Phe8Phe|508/559|24/75|8/24||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|3/13|c.24C>T|p.Phe8Phe|409/2468|24/1650|8/549||,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000424224|protein_coding|3/6|c.24C>T|p.Phe8Phe|361/861|24/524|8/173||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|3/13|c.348C>T|p.Phe116Phe|463/2470|348/1980|116/659||,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000454145|protein_coding|2/5|c.135C>T|p.Phe45Phe|137/589|135/587|45/194||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000453621|protein_coding|2/7|c.135C>T|p.Phe45Phe|137/895|135/893|45/296||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000431368|protein_coding|2/12|c.135C>T|p.Phe45Phe|137/3050|135/1764|45/587||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000452656|protein_coding|1/10|c.15C>T|p.Phe5Phe|15/2763|15/1353|5/450||WARNING_TRANSCRIPT_NO_START_CODON,T|5_prime_UTR_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000535268|protein_coding|2/12|c.-244C>T|||||848|,T|upstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000496575|processed_transcript||n.-1C>T|||||3509| 22 31283492 . G A . . ANN=A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|4/14|c.1187G>A|p.Arg396His|1291/4340|1187/2751|396/916||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|5/15|c.692G>A|p.Arg231His|971/2747|692/2253|231/750||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|4/14|c.668G>A|p.Arg223His|812/3669|668/2232|223/743||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|4/12|c.1187G>A|p.Arg396His|1223/2992|1187/2625|396/874||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|4/14|c.1187G>A|p.Arg396His|1208/2836|1187/2748|396/915||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|3/13|c.89G>A|p.Arg30His|474/2468|89/1650|30/549||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000424224|protein_coding|3/6|c.89G>A|p.Arg30His|426/861|89/524|30/173||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|3/13|c.413G>A|p.Arg138His|528/2470|413/1980|138/659||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000454145|protein_coding|2/5|c.200G>A|p.Arg67His|202/589|200/587|67/194||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000453621|protein_coding|2/7|c.200G>A|p.Arg67His|202/895|200/893|67/296||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000431368|protein_coding|2/12|c.200G>A|p.Arg67His|202/3050|200/1764|67/587||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000452656|protein_coding|1/10|c.80G>A|p.Arg27His|80/2763|80/1353|27/450||WARNING_TRANSCRIPT_NO_START_CODON,A|5_prime_UTR_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000535268|protein_coding|2/12|c.-179G>A|||||783|,A|upstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000496575|processed_transcript||n.-1G>A|||||3444|,A|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000445781|protein_coding||c.*559G>A|||||14|WARNING_TRANSCRIPT_NO_STOP_CODON 22 31283493 . C T . . ANN=T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|4/14|c.1188C>T|p.Arg396Arg|1292/4340|1188/2751|396/916||,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|5/15|c.693C>T|p.Arg231Arg|972/2747|693/2253|231/750||,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|4/14|c.669C>T|p.Arg223Arg|813/3669|669/2232|223/743||,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|4/12|c.1188C>T|p.Arg396Arg|1224/2992|1188/2625|396/874||,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|4/14|c.1188C>T|p.Arg396Arg|1209/2836|1188/2748|396/915||,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|3/13|c.90C>T|p.Arg30Arg|475/2468|90/1650|30/549||,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000424224|protein_coding|3/6|c.90C>T|p.Arg30Arg|427/861|90/524|30/173||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|3/13|c.414C>T|p.Arg138Arg|529/2470|414/1980|138/659||,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000454145|protein_coding|2/5|c.201C>T|p.Arg67Arg|203/589|201/587|67/194||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000453621|protein_coding|2/7|c.201C>T|p.Arg67Arg|203/895|201/893|67/296||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000431368|protein_coding|2/12|c.201C>T|p.Arg67Arg|203/3050|201/1764|67/587||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000452656|protein_coding|1/10|c.81C>T|p.Arg27Arg|81/2763|81/1353|27/450||WARNING_TRANSCRIPT_NO_START_CODON,T|5_prime_UTR_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000535268|protein_coding|2/12|c.-178C>T|||||782|,T|upstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000496575|processed_transcript||n.-1C>T|||||3443|,T|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000445781|protein_coding||c.*559C>T|||||15|WARNING_TRANSCRIPT_NO_STOP_CODON 22 31283494 . G A . . ANN=A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|4/14|c.1189G>A|p.Val397Met|1293/4340|1189/2751|397/916||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|5/15|c.694G>A|p.Val232Met|973/2747|694/2253|232/750||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|4/14|c.670G>A|p.Val224Met|814/3669|670/2232|224/743||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|4/12|c.1189G>A|p.Val397Met|1225/2992|1189/2625|397/874||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|4/14|c.1189G>A|p.Val397Met|1210/2836|1189/2748|397/915||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|3/13|c.91G>A|p.Val31Met|476/2468|91/1650|31/549||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000424224|protein_coding|3/6|c.91G>A|p.Val31Met|428/861|91/524|31/173||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|3/13|c.415G>A|p.Val139Met|530/2470|415/1980|139/659||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000454145|protein_coding|2/5|c.202G>A|p.Val68Met|204/589|202/587|68/194||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000453621|protein_coding|2/7|c.202G>A|p.Val68Met|204/895|202/893|68/296||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000431368|protein_coding|2/12|c.202G>A|p.Val68Met|204/3050|202/1764|68/587||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000452656|protein_coding|1/10|c.82G>A|p.Val28Met|82/2763|82/1353|28/450||WARNING_TRANSCRIPT_NO_START_CODON,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000535268|protein_coding|2/12|c.-177G>A||||||,A|5_prime_UTR_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000535268|protein_coding|2/12|c.-177G>A|||||781|,A|upstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000496575|processed_transcript||n.-1G>A|||||3442|,A|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000445781|protein_coding||c.*559G>A|||||16|WARNING_TRANSCRIPT_NO_STOP_CODON 22 31283526 . G A . . ANN=A|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|4/14|c.1221G>A|p.Ala407Ala|1325/4340|1221/2751|407/916||,A|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|5/15|c.726G>A|p.Ala242Ala|1005/2747|726/2253|242/750||,A|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|4/14|c.702G>A|p.Ala234Ala|846/3669|702/2232|234/743||,A|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|4/12|c.1221G>A|p.Ala407Ala|1257/2992|1221/2625|407/874||,A|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|4/14|c.1221G>A|p.Ala407Ala|1242/2836|1221/2748|407/915||,A|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|3/13|c.123G>A|p.Ala41Ala|508/2468|123/1650|41/549||,A|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000424224|protein_coding|3/6|c.123G>A|p.Ala41Ala|460/861|123/524|41/173||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|3/13|c.447G>A|p.Ala149Ala|562/2470|447/1980|149/659||,A|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000454145|protein_coding|2/5|c.234G>A|p.Ala78Ala|236/589|234/587|78/194||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000453621|protein_coding|2/7|c.234G>A|p.Ala78Ala|236/895|234/893|78/296||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000431368|protein_coding|2/12|c.234G>A|p.Ala78Ala|236/3050|234/1764|78/587||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000452656|protein_coding|1/10|c.114G>A|p.Ala38Ala|114/2763|114/1353|38/450||WARNING_TRANSCRIPT_NO_START_CODON,A|5_prime_UTR_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000535268|protein_coding|2/12|c.-145G>A|||||749|,A|upstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000496575|processed_transcript||n.-1G>A|||||3410|,A|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000445781|protein_coding||c.*559G>A|||||48|WARNING_TRANSCRIPT_NO_STOP_CODON 22 31283544 . C T . . ANN=T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|4/14|c.1239C>T|p.Leu413Leu|1343/4340|1239/2751|413/916||,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|5/15|c.744C>T|p.Leu248Leu|1023/2747|744/2253|248/750||,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|4/14|c.720C>T|p.Leu240Leu|864/3669|720/2232|240/743||,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|4/12|c.1239C>T|p.Leu413Leu|1275/2992|1239/2625|413/874||,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|4/14|c.1239C>T|p.Leu413Leu|1260/2836|1239/2748|413/915||,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|3/13|c.141C>T|p.Leu47Leu|526/2468|141/1650|47/549||,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000424224|protein_coding|3/6|c.141C>T|p.Leu47Leu|478/861|141/524|47/173||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|3/13|c.465C>T|p.Leu155Leu|580/2470|465/1980|155/659||,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000454145|protein_coding|2/5|c.252C>T|p.Leu84Leu|254/589|252/587|84/194||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000453621|protein_coding|2/7|c.252C>T|p.Leu84Leu|254/895|252/893|84/296||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000431368|protein_coding|2/12|c.252C>T|p.Leu84Leu|254/3050|252/1764|84/587||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000452656|protein_coding|1/10|c.132C>T|p.Leu44Leu|132/2763|132/1353|44/450||WARNING_TRANSCRIPT_NO_START_CODON,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000535268|protein_coding|2/12|c.-127C>T||||||,T|5_prime_UTR_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000535268|protein_coding|2/12|c.-127C>T|||||731|,T|upstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000496575|processed_transcript||n.-1C>T|||||3392|,T|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000445781|protein_coding||c.*559C>T|||||66|WARNING_TRANSCRIPT_NO_STOP_CODON 22 31283602 . G A . . ANN=A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|4/14|c.1297G>A|p.Glu433Lys|1401/4340|1297/2751|433/916||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|5/15|c.802G>A|p.Glu268Lys|1081/2747|802/2253|268/750||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|4/14|c.778G>A|p.Glu260Lys|922/3669|778/2232|260/743||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|4/12|c.1297G>A|p.Glu433Lys|1333/2992|1297/2625|433/874||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|4/14|c.1297G>A|p.Glu433Lys|1318/2836|1297/2748|433/915||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|3/13|c.199G>A|p.Glu67Lys|584/2468|199/1650|67/549||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000424224|protein_coding|3/6|c.199G>A|p.Glu67Lys|536/861|199/524|67/173||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|3/13|c.523G>A|p.Glu175Lys|638/2470|523/1980|175/659||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000454145|protein_coding|2/5|c.310G>A|p.Glu104Lys|312/589|310/587|104/194||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000453621|protein_coding|2/7|c.310G>A|p.Glu104Lys|312/895|310/893|104/296||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000431368|protein_coding|2/12|c.310G>A|p.Glu104Lys|312/3050|310/1764|104/587||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000452656|protein_coding|1/10|c.190G>A|p.Glu64Lys|190/2763|190/1353|64/450||WARNING_TRANSCRIPT_NO_START_CODON,A|5_prime_UTR_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000535268|protein_coding|2/12|c.-69G>A|||||673|,A|upstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000496575|processed_transcript||n.-1G>A|||||3334|,A|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000445781|protein_coding||c.*559G>A|||||124|WARNING_TRANSCRIPT_NO_STOP_CODON 22 31284271 . T C . . ANN=C|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|5/14|c.1362T>C|p.Asp454Asp|1466/4340|1362/2751|454/916||,C|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|6/15|c.867T>C|p.Asp289Asp|1146/2747|867/2253|289/750||,C|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|5/14|c.843T>C|p.Asp281Asp|987/3669|843/2232|281/743||,C|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|5/12|c.1362T>C|p.Asp454Asp|1398/2992|1362/2625|454/874||,C|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|5/14|c.1362T>C|p.Asp454Asp|1383/2836|1362/2748|454/915||,C|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|4/13|c.264T>C|p.Asp88Asp|649/2468|264/1650|88/549||,C|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000424224|protein_coding|4/6|c.264T>C|p.Asp88Asp|601/861|264/524|88/173||WARNING_TRANSCRIPT_INCOMPLETE,C|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|4/13|c.588T>C|p.Asp196Asp|703/2470|588/1980|196/659||,C|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000454145|protein_coding|3/5|c.375T>C|p.Asp125Asp|377/589|375/587|125/194||WARNING_TRANSCRIPT_INCOMPLETE,C|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000453621|protein_coding|3/7|c.375T>C|p.Asp125Asp|377/895|375/893|125/296||WARNING_TRANSCRIPT_INCOMPLETE,C|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000431368|protein_coding|3/12|c.375T>C|p.Asp125Asp|377/3050|375/1764|125/587||WARNING_TRANSCRIPT_NO_START_CODON,C|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000452656|protein_coding|2/10|c.255T>C|p.Asp85Asp|255/2763|255/1353|85/450||WARNING_TRANSCRIPT_NO_START_CODON,C|5_prime_UTR_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000535268|protein_coding|3/12|c.-4T>C|||||4|,C|upstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000496575|processed_transcript||n.-1T>C|||||2665|,C|upstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000433183|protein_coding||c.-2T>C|||||4957|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000445781|protein_coding||c.*559T>C|||||793|WARNING_TRANSCRIPT_NO_STOP_CODON 22 31284281 . G T . . ANN=T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|5/14|c.1372G>T|p.Asp458Tyr|1476/4340|1372/2751|458/916||,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|6/15|c.877G>T|p.Asp293Tyr|1156/2747|877/2253|293/750||,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|5/14|c.853G>T|p.Asp285Tyr|997/3669|853/2232|285/743||,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|5/12|c.1372G>T|p.Asp458Tyr|1408/2992|1372/2625|458/874||,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|5/14|c.1372G>T|p.Asp458Tyr|1393/2836|1372/2748|458/915||,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|4/13|c.274G>T|p.Asp92Tyr|659/2468|274/1650|92/549||,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000424224|protein_coding|4/6|c.274G>T|p.Asp92Tyr|611/861|274/524|92/173||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|4/13|c.598G>T|p.Asp200Tyr|713/2470|598/1980|200/659||,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000454145|protein_coding|3/5|c.385G>T|p.Asp129Tyr|387/589|385/587|129/194||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000453621|protein_coding|3/7|c.385G>T|p.Asp129Tyr|387/895|385/893|129/296||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000535268|protein_coding|3/12|c.7G>T|p.Asp3Tyr|387/2045|7/1383|3/460||,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000431368|protein_coding|3/12|c.385G>T|p.Asp129Tyr|387/3050|385/1764|129/587||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000452656|protein_coding|2/10|c.265G>T|p.Asp89Tyr|265/2763|265/1353|89/450||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000496575|processed_transcript||n.-1G>T|||||2655|,T|upstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000433183|protein_coding||c.-2G>T|||||4947|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000445781|protein_coding||c.*559G>T|||||803|WARNING_TRANSCRIPT_NO_STOP_CODON 22 31285136 . T C . . ANN=C|upstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000496575|processed_transcript||n.-1T>C|||||1800|,C|upstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000433183|protein_coding||c.-2T>C|||||4092|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000445781|protein_coding||c.*559T>C|||||1658|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|5/13|c.1419-28T>C||||||,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|6/14|c.924-31T>C||||||,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|5/13|c.900-28T>C||||||,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|5/11|c.1419-28T>C||||||,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|5/13|c.1419-31T>C||||||,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|4/12|c.321-31T>C||||||,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000424224|protein_coding|4/5|c.321-28T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|4/12|c.645-28T>C||||||,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000454145|protein_coding|3/4|c.432-28T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000453621|protein_coding|3/6|c.432-31T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000535268|protein_coding|3/11|c.54-31T>C||||||,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000431368|protein_coding|3/11|c.432-28T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000452656|protein_coding|2/9|c.312-28T>C||||||WARNING_TRANSCRIPT_NO_START_CODON 22 31285190 . C G . . ANN=G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|6/14|c.1445C>G|p.Thr482Arg|1549/4340|1445/2751|482/916||,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|7/15|c.947C>G|p.Thr316Arg|1226/2747|947/2253|316/750||,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|6/14|c.926C>G|p.Thr309Arg|1070/3669|926/2232|309/743||,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|6/12|c.1445C>G|p.Thr482Arg|1481/2992|1445/2625|482/874||,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|6/14|c.1442C>G|p.Thr481Arg|1463/2836|1442/2748|481/915||,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|5/13|c.344C>G|p.Thr115Arg|729/2468|344/1650|115/549||,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000424224|protein_coding|5/6|c.347C>G|p.Thr116Arg|684/861|347/524|116/173||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|5/13|c.671C>G|p.Thr224Arg|786/2470|671/1980|224/659||,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000454145|protein_coding|4/5|c.458C>G|p.Thr153Arg|460/589|458/587|153/194||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000453621|protein_coding|4/7|c.455C>G|p.Thr152Arg|457/895|455/893|152/296||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000535268|protein_coding|4/12|c.77C>G|p.Thr26Arg|457/2045|77/1383|26/460||,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000431368|protein_coding|4/12|c.458C>G|p.Thr153Arg|460/3050|458/1764|153/587||WARNING_TRANSCRIPT_NO_START_CODON,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000452656|protein_coding|3/10|c.338C>G|p.Thr113Arg|338/2763|338/1353|113/450||WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000496575|processed_transcript||n.-1C>G|||||1746|,G|upstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000433183|protein_coding||c.-2C>G|||||4038|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000445781|protein_coding||c.*559C>G|||||1712|WARNING_TRANSCRIPT_NO_STOP_CODON 22 31285230 . G C . . ANN=C|upstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000496575|processed_transcript||n.-1G>C|||||1706|,C|upstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000433183|protein_coding||c.-2G>C|||||3998|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000445781|protein_coding||c.*559G>C|||||1752|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|6/13|c.1476+9G>C||||||,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|7/14|c.978+9G>C||||||,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|6/13|c.957+9G>C||||||,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|6/11|c.1476+9G>C||||||,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|6/13|c.1473+9G>C||||||,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|5/12|c.375+9G>C||||||,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000424224|protein_coding|5/5|c.378+9G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|5/12|c.702+9G>C||||||,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000454145|protein_coding|4/4|c.489+9G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000453621|protein_coding|4/6|c.486+9G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000535268|protein_coding|4/11|c.108+9G>C||||||,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000431368|protein_coding|4/11|c.489+9G>C||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000452656|protein_coding|3/9|c.369+9G>C||||||WARNING_TRANSCRIPT_NO_START_CODON 22 31285255 . G A . . ANN=A|upstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000496575|processed_transcript||n.-1G>A|||||1681|,A|upstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000433183|protein_coding||c.-2G>A|||||3973|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000445781|protein_coding||c.*559G>A|||||1777|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|6/13|c.1476+34G>A||||||,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|7/14|c.978+34G>A||||||,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|6/13|c.957+34G>A||||||,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|6/11|c.1476+34G>A||||||,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|6/13|c.1473+34G>A||||||,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|5/12|c.375+34G>A||||||,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000424224|protein_coding|5/5|c.378+34G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|5/12|c.702+34G>A||||||,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000454145|protein_coding|4/4|c.489+34G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000453621|protein_coding|4/6|c.486+34G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000535268|protein_coding|4/11|c.108+34G>A||||||,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000431368|protein_coding|4/11|c.489+34G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000452656|protein_coding|3/9|c.369+34G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 31285271 . G C . . ANN=C|upstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000496575|processed_transcript||n.-1G>C|||||1665|,C|upstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000433183|protein_coding||c.-2G>C|||||3957|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000445781|protein_coding||c.*559G>C|||||1793|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|6/13|c.1476+50G>C||||||,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|7/14|c.978+50G>C||||||,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|6/13|c.957+50G>C||||||,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|6/11|c.1476+50G>C||||||,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|6/13|c.1473+50G>C||||||,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|5/12|c.375+50G>C||||||,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000424224|protein_coding|5/5|c.378+50G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|5/12|c.702+50G>C||||||,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000454145|protein_coding|4/4|c.489+50G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000453621|protein_coding|4/6|c.486+50G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000535268|protein_coding|4/11|c.108+50G>C||||||,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000431368|protein_coding|4/11|c.489+50G>C||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000452656|protein_coding|3/9|c.369+50G>C||||||WARNING_TRANSCRIPT_NO_START_CODON 22 31285597 . C T . . ANN=T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|7/14|c.1597C>T|p.Arg533Trp|1701/4340|1597/2751|533/916||,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|8/15|c.1099C>T|p.Arg367Trp|1378/2747|1099/2253|367/750||,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|7/14|c.1078C>T|p.Arg360Trp|1222/3669|1078/2232|360/743||,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|7/14|c.1594C>T|p.Arg532Trp|1615/2836|1594/2748|532/915||,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|6/13|c.496C>T|p.Arg166Trp|881/2468|496/1650|166/549||,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000424224|protein_coding|6/6|c.499C>T|p.Arg167Trp|836/861|499/524|167/173||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|6/13|c.823C>T|p.Arg275Trp|938/2470|823/1980|275/659||,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000454145|protein_coding|5/5|c.580C>T|p.Arg194Trp|582/589|580/587|194/194||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000453621|protein_coding|5/7|c.607C>T|p.Arg203Trp|609/895|607/893|203/296||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000535268|protein_coding|5/12|c.229C>T|p.Arg77Trp|609/2045|229/1383|77/460||,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000431368|protein_coding|5/12|c.610C>T|p.Arg204Trp|612/3050|610/1764|204/587||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000452656|protein_coding|4/10|c.490C>T|p.Arg164Trp|490/2763|490/1353|164/450||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000496575|processed_transcript||n.-1C>T|||||1339|,T|upstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000433183|protein_coding||c.-2C>T|||||3631|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000445781|protein_coding||c.*559C>T|||||2119|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|6/11|c.1476+376C>T|||||| 22 31286725 . A G . . ANN=G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|8/14|c.1634A>G|p.Asn545Ser|1738/4340|1634/2751|545/916||,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|9/15|c.1136A>G|p.Asn379Ser|1415/2747|1136/2253|379/750||,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|8/14|c.1115A>G|p.Asn372Ser|1259/3669|1115/2232|372/743||,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|7/12|c.1487A>G|p.Asn496Ser|1523/2992|1487/2625|496/874||,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|8/14|c.1631A>G|p.Asn544Ser|1652/2836|1631/2748|544/915||,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|7/13|c.533A>G|p.Asn178Ser|918/2468|533/1650|178/549||,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|7/13|c.860A>G|p.Asn287Ser|975/2470|860/1980|287/659||,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000453621|protein_coding|6/7|c.644A>G|p.Asn215Ser|646/895|644/893|215/296||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000535268|protein_coding|6/12|c.266A>G|p.Asn89Ser|646/2045|266/1383|89/460||,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000431368|protein_coding|6/12|c.647A>G|p.Asn216Ser|649/3050|647/1764|216/587||WARNING_TRANSCRIPT_NO_START_CODON,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000452656|protein_coding|5/10|c.527A>G|p.Asn176Ser|527/2763|527/1353|176/450||WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000496575|processed_transcript||n.-1A>G|||||211|,G|upstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000433183|protein_coding||c.-2A>G|||||2503|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000445781|protein_coding||c.*559A>G|||||3247|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000424224|protein_coding||c.*861A>G|||||1103|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000454145|protein_coding||c.*589A>G|||||1121|WARNING_TRANSCRIPT_INCOMPLETE 22 31286843 . T C . . ANN=C|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|8/14|c.1752T>C|p.Ser584Ser|1856/4340|1752/2751|584/916||,C|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|9/15|c.1254T>C|p.Ser418Ser|1533/2747|1254/2253|418/750||,C|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|8/14|c.1233T>C|p.Ser411Ser|1377/3669|1233/2232|411/743||,C|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|7/12|c.1605T>C|p.Ser535Ser|1641/2992|1605/2625|535/874||,C|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|8/14|c.1749T>C|p.Ser583Ser|1770/2836|1749/2748|583/915||,C|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|7/13|c.651T>C|p.Ser217Ser|1036/2468|651/1650|217/549||,C|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|7/13|c.978T>C|p.Ser326Ser|1093/2470|978/1980|326/659||,C|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000453621|protein_coding|6/7|c.762T>C|p.Ser254Ser|764/895|762/893|254/296||WARNING_TRANSCRIPT_INCOMPLETE,C|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000535268|protein_coding|6/12|c.384T>C|p.Ser128Ser|764/2045|384/1383|128/460||,C|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000431368|protein_coding|6/12|c.765T>C|p.Ser255Ser|767/3050|765/1764|255/587||WARNING_TRANSCRIPT_NO_START_CODON,C|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000452656|protein_coding|5/10|c.645T>C|p.Ser215Ser|645/2763|645/1353|215/450||WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000496575|processed_transcript||n.-1T>C|||||93|,C|upstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000433183|protein_coding||c.-2T>C|||||2385|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000445781|protein_coding||c.*559T>C|||||3365|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000424224|protein_coding||c.*861T>C|||||1221|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000454145|protein_coding||c.*589T>C|||||1239|WARNING_TRANSCRIPT_INCOMPLETE 22 31286928 . G A . . ANN=A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|8/14|c.1837G>A|p.Asp613Asn|1941/4340|1837/2751|613/916||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|9/15|c.1339G>A|p.Asp447Asn|1618/2747|1339/2253|447/750||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|8/14|c.1318G>A|p.Asp440Asn|1462/3669|1318/2232|440/743||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|7/12|c.1690G>A|p.Asp564Asn|1726/2992|1690/2625|564/874||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|8/14|c.1834G>A|p.Asp612Asn|1855/2836|1834/2748|612/915||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|7/13|c.736G>A|p.Asp246Asn|1121/2468|736/1650|246/549||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|7/13|c.1063G>A|p.Asp355Asn|1178/2470|1063/1980|355/659||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000453621|protein_coding|6/7|c.847G>A|p.Asp283Asn|849/895|847/893|283/296||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000535268|protein_coding|6/12|c.469G>A|p.Asp157Asn|849/2045|469/1383|157/460||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000431368|protein_coding|6/12|c.850G>A|p.Asp284Asn|852/3050|850/1764|284/587||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000452656|protein_coding|5/10|c.730G>A|p.Asp244Asn|730/2763|730/1353|244/450||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000496575|processed_transcript||n.-1G>A|||||8|,A|upstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000433183|protein_coding||c.-2G>A|||||2300|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000445781|protein_coding||c.*559G>A|||||3450|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000424224|protein_coding||c.*861G>A|||||1306|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000454145|protein_coding||c.*589G>A|||||1324|WARNING_TRANSCRIPT_INCOMPLETE 22 31286965 . G C . . ANN=C|splice_region_variant&intron_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|8/13|c.1869+5G>C||||||,C|splice_region_variant&intron_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|9/14|c.1371+5G>C||||||,C|splice_region_variant&intron_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|8/13|c.1350+5G>C||||||,C|splice_region_variant&intron_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|7/11|c.1722+5G>C||||||,C|splice_region_variant&intron_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|8/13|c.1866+5G>C||||||,C|splice_region_variant&intron_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|7/12|c.768+5G>C||||||,C|splice_region_variant&intron_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|7/12|c.1095+5G>C||||||,C|splice_region_variant&intron_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000453621|protein_coding|6/6|c.879+5G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|splice_region_variant&intron_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000535268|protein_coding|6/11|c.501+5G>C||||||,C|splice_region_variant&intron_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000431368|protein_coding|6/11|c.882+5G>C||||||WARNING_TRANSCRIPT_NO_START_CODON,C|splice_region_variant&intron_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000452656|protein_coding|5/9|c.762+5G>C||||||WARNING_TRANSCRIPT_NO_START_CODON,C|splice_region_variant&intron_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000496575|processed_transcript|1/2|n.25+5G>C||||||,C|upstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000433183|protein_coding||c.-2G>C|||||2263|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000445781|protein_coding||c.*559G>C|||||3487|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000424224|protein_coding||c.*861G>C|||||1343|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000454145|protein_coding||c.*589G>C|||||1361|WARNING_TRANSCRIPT_INCOMPLETE 22 31286989 . C T . . ANN=T|upstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000433183|protein_coding||c.-2C>T|||||2239|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000445781|protein_coding||c.*559C>T|||||3511|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000424224|protein_coding||c.*861C>T|||||1367|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000454145|protein_coding||c.*589C>T|||||1385|WARNING_TRANSCRIPT_INCOMPLETE,T|TF_binding_site_variant|MODIFIER|||CTCF|MA0139.1|||||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|8/13|c.1869+29C>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|9/14|c.1371+29C>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|8/13|c.1350+29C>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|7/11|c.1722+29C>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|8/13|c.1866+29C>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|7/12|c.768+29C>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|7/12|c.1095+29C>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000453621|protein_coding|6/6|c.879+29C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000535268|protein_coding|6/11|c.501+29C>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000431368|protein_coding|6/11|c.882+29C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000452656|protein_coding|5/9|c.762+29C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000496575|processed_transcript|1/2|n.25+29C>T|||||| 22 31289092 . T A . . ANN=A|upstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000433183|protein_coding||c.-2T>A|||||136|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000424224|protein_coding||c.*861T>A|||||3470|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000454145|protein_coding||c.*589T>A|||||3488|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|8/13|c.1870-17T>A||||||,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|9/14|c.1372-17T>A||||||,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|8/13|c.1351-17T>A||||||,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|7/11|c.1723-17T>A||||||,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|8/13|c.1867-17T>A||||||,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|7/12|c.769-17T>A||||||,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|7/12|c.1096-17T>A||||||,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000453621|protein_coding|6/6|c.880-17T>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000535268|protein_coding|6/11|c.502-17T>A||||||,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000431368|protein_coding|6/11|c.883-17T>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000452656|protein_coding|5/9|c.763-17T>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000496575|processed_transcript|1/2|n.26-358T>A|||||| 22 31289123 . C G . . ANN=G|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|9/14|c.1884C>G|p.Pro628Pro|1988/4340|1884/2751|628/916||,G|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|10/15|c.1386C>G|p.Pro462Pro|1665/2747|1386/2253|462/750||,G|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|9/14|c.1365C>G|p.Pro455Pro|1509/3669|1365/2232|455/743||,G|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|8/12|c.1737C>G|p.Pro579Pro|1773/2992|1737/2625|579/874||,G|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|9/14|c.1881C>G|p.Pro627Pro|1902/2836|1881/2748|627/915||,G|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|8/13|c.783C>G|p.Pro261Pro|1168/2468|783/1650|261/549||,G|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|8/13|c.1110C>G|p.Pro370Pro|1225/2470|1110/1980|370/659||,G|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000535268|protein_coding|7/12|c.516C>G|p.Pro172Pro|896/2045|516/1383|172/460||,G|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000431368|protein_coding|7/12|c.897C>G|p.Pro299Pro|899/3050|897/1764|299/587||WARNING_TRANSCRIPT_NO_START_CODON,G|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000452656|protein_coding|6/10|c.777C>G|p.Pro259Pro|777/2763|777/1353|259/450||WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000433183|protein_coding||c.-2C>G|||||105|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000424224|protein_coding||c.*861C>G|||||3501|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000454145|protein_coding||c.*589C>G|||||3519|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000453621|protein_coding||c.*895C>G|||||1|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000496575|processed_transcript|1/2|n.26-327C>G|||||| 22 31289126 . C T . . ANN=T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|9/14|c.1887C>T|p.Pro629Pro|1991/4340|1887/2751|629/916||,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|10/15|c.1389C>T|p.Pro463Pro|1668/2747|1389/2253|463/750||,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|9/14|c.1368C>T|p.Pro456Pro|1512/3669|1368/2232|456/743||,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|8/12|c.1740C>T|p.Pro580Pro|1776/2992|1740/2625|580/874||,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|9/14|c.1884C>T|p.Pro628Pro|1905/2836|1884/2748|628/915||,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|8/13|c.786C>T|p.Pro262Pro|1171/2468|786/1650|262/549||,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|8/13|c.1113C>T|p.Pro371Pro|1228/2470|1113/1980|371/659||,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000535268|protein_coding|7/12|c.519C>T|p.Pro173Pro|899/2045|519/1383|173/460||,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000431368|protein_coding|7/12|c.900C>T|p.Pro300Pro|902/3050|900/1764|300/587||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000452656|protein_coding|6/10|c.780C>T|p.Pro260Pro|780/2763|780/1353|260/450||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000433183|protein_coding||c.-2C>T|||||102|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000424224|protein_coding||c.*861C>T|||||3504|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000454145|protein_coding||c.*589C>T|||||3522|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000453621|protein_coding||c.*895C>T|||||4|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000496575|processed_transcript|1/2|n.26-324C>T|||||| 22 31289164 . G A . . ANN=A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|9/14|c.1925G>A|p.Ser642Asn|2029/4340|1925/2751|642/916||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|10/15|c.1427G>A|p.Ser476Asn|1706/2747|1427/2253|476/750||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|9/14|c.1406G>A|p.Ser469Asn|1550/3669|1406/2232|469/743||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|8/12|c.1778G>A|p.Ser593Asn|1814/2992|1778/2625|593/874||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|9/14|c.1922G>A|p.Ser641Asn|1943/2836|1922/2748|641/915||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|8/13|c.824G>A|p.Ser275Asn|1209/2468|824/1650|275/549||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|8/13|c.1151G>A|p.Ser384Asn|1266/2470|1151/1980|384/659||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000535268|protein_coding|7/12|c.557G>A|p.Ser186Asn|937/2045|557/1383|186/460||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000431368|protein_coding|7/12|c.938G>A|p.Ser313Asn|940/3050|938/1764|313/587||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000452656|protein_coding|6/10|c.818G>A|p.Ser273Asn|818/2763|818/1353|273/450||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000433183|protein_coding||c.-2G>A|||||64|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000424224|protein_coding||c.*861G>A|||||3542|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000454145|protein_coding||c.*589G>A|||||3560|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000453621|protein_coding||c.*895G>A|||||42|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000496575|processed_transcript|1/2|n.26-286G>A|||||| 22 31289232 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|9/13|c.1990+3G>A||||||,A|splice_region_variant&intron_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|10/14|c.1492+3G>A||||||,A|splice_region_variant&intron_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|9/13|c.1471+3G>A||||||,A|splice_region_variant&intron_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|8/11|c.1843+3G>A||||||,A|splice_region_variant&intron_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|9/13|c.1987+3G>A||||||,A|splice_region_variant&intron_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|8/12|c.889+3G>A||||||,A|splice_region_variant&intron_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|8/12|c.1216+3G>A||||||,A|splice_region_variant&intron_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000535268|protein_coding|7/11|c.622+3G>A||||||,A|splice_region_variant&intron_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000431368|protein_coding|7/11|c.1003+3G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|splice_region_variant&intron_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000452656|protein_coding|6/9|c.883+3G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|splice_region_variant&intron_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000433183|protein_coding|1/2|c.1+3G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000424224|protein_coding||c.*861G>A|||||3610|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000454145|protein_coding||c.*589G>A|||||3628|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000453621|protein_coding||c.*895G>A|||||110|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000496575|processed_transcript|1/2|n.26-218G>A|||||| 22 31289244 . G A . . ANN=A|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000424224|protein_coding||c.*861G>A|||||3622|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000454145|protein_coding||c.*589G>A|||||3640|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000453621|protein_coding||c.*895G>A|||||122|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|9/13|c.1990+15G>A||||||,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|10/14|c.1492+15G>A||||||,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|9/13|c.1471+15G>A||||||,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|8/11|c.1843+15G>A||||||,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|9/13|c.1987+15G>A||||||,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|8/12|c.889+15G>A||||||,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|8/12|c.1216+15G>A||||||,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000535268|protein_coding|7/11|c.622+15G>A||||||,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000431368|protein_coding|7/11|c.1003+15G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000452656|protein_coding|6/9|c.883+15G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000496575|processed_transcript|1/2|n.26-206G>A||||||,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000433183|protein_coding|1/2|c.1+15G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 31289477 . G C . . ANN=C|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|10/14|c.2018G>C|p.Ser673Thr|2122/4340|2018/2751|673/916||,C|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|11/15|c.1520G>C|p.Ser507Thr|1799/2747|1520/2253|507/750||,C|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|10/14|c.1499G>C|p.Ser500Thr|1643/3669|1499/2232|500/743||,C|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|9/12|c.1871G>C|p.Ser624Thr|1907/2992|1871/2625|624/874||,C|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|10/14|c.2015G>C|p.Ser672Thr|2036/2836|2015/2748|672/915||,C|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|9/13|c.917G>C|p.Ser306Thr|1302/2468|917/1650|306/549||,C|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|9/13|c.1244G>C|p.Ser415Thr|1359/2470|1244/1980|415/659||,C|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000535268|protein_coding|8/12|c.650G>C|p.Ser217Thr|1030/2045|650/1383|217/460||,C|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000431368|protein_coding|8/12|c.1031G>C|p.Ser344Thr|1033/3050|1031/1764|344/587||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000452656|protein_coding|7/10|c.911G>C|p.Ser304Thr|911/2763|911/1353|304/450||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000433183|protein_coding|2/3|c.29G>C|p.Ser10Thr|30/932|29/225|10/74||WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000424224|protein_coding||c.*861G>C|||||3855|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000454145|protein_coding||c.*589G>C|||||3873|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000453621|protein_coding||c.*895G>C|||||355|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000496575|processed_transcript|2/3|n.53G>C|||||| 22 31289563 . G A . . ANN=A|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000424224|protein_coding||c.*861G>A|||||3941|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000454145|protein_coding||c.*589G>A|||||3959|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000453621|protein_coding||c.*895G>A|||||441|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|10/13|c.2094+10G>A||||||,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|11/14|c.1596+10G>A||||||,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|10/13|c.1575+10G>A||||||,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|9/11|c.1947+10G>A||||||,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|10/13|c.2091+10G>A||||||,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|9/12|c.993+10G>A||||||,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|9/12|c.1320+10G>A||||||,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000535268|protein_coding|8/11|c.726+10G>A||||||,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000431368|protein_coding|8/11|c.1107+10G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000452656|protein_coding|7/9|c.987+10G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000496575|processed_transcript|2/2|n.129+10G>A||||||,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000433183|protein_coding|2/2|c.105+10G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 31289570 . G C . . ANN=C|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000424224|protein_coding||c.*861G>C|||||3948|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000454145|protein_coding||c.*589G>C|||||3966|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000453621|protein_coding||c.*895G>C|||||448|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|10/13|c.2094+17G>C||||||,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|11/14|c.1596+17G>C||||||,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|10/13|c.1575+17G>C||||||,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|9/11|c.1947+17G>C||||||,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|10/13|c.2091+17G>C||||||,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|9/12|c.993+17G>C||||||,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|9/12|c.1320+17G>C||||||,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000535268|protein_coding|8/11|c.726+17G>C||||||,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000431368|protein_coding|8/11|c.1107+17G>C||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000452656|protein_coding|7/9|c.987+17G>C||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000496575|processed_transcript|2/2|n.129+17G>C||||||,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000433183|protein_coding|2/2|c.105+17G>C||||||WARNING_TRANSCRIPT_NO_START_CODON 22 31289579 . T C . . ANN=C|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000424224|protein_coding||c.*861T>C|||||3957|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000454145|protein_coding||c.*589T>C|||||3975|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000453621|protein_coding||c.*895T>C|||||457|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|10/13|c.2094+26T>C||||||,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|11/14|c.1596+26T>C||||||,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|10/13|c.1575+26T>C||||||,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|9/11|c.1947+26T>C||||||,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|10/13|c.2091+26T>C||||||,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|9/12|c.993+26T>C||||||,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|9/12|c.1320+26T>C||||||,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000535268|protein_coding|8/11|c.726+26T>C||||||,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000431368|protein_coding|8/11|c.1107+26T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000452656|protein_coding|7/9|c.987+26T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000496575|processed_transcript|2/2|n.129+26T>C||||||,C|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000433183|protein_coding|2/2|c.105+26T>C||||||WARNING_TRANSCRIPT_NO_START_CODON 22 31289591 . G T . . ANN=T|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000424224|protein_coding||c.*861G>T|||||3969|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000454145|protein_coding||c.*589G>T|||||3987|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000453621|protein_coding||c.*895G>T|||||469|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|10/13|c.2095-34G>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|11/14|c.1597-34G>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|10/13|c.1576-34G>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|9/11|c.1948-34G>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|10/13|c.2092-34G>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|9/12|c.994-34G>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|9/12|c.1321-34G>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000535268|protein_coding|8/11|c.727-34G>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000431368|protein_coding|8/11|c.1108-34G>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000452656|protein_coding|7/9|c.988-34G>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000496575|processed_transcript|2/2|n.130-34G>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000433183|protein_coding|2/2|c.106-34G>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 31289599 . C T . . ANN=T|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000424224|protein_coding||c.*861C>T|||||3977|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000454145|protein_coding||c.*589C>T|||||3995|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000453621|protein_coding||c.*895C>T|||||477|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|10/13|c.2095-26C>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|11/14|c.1597-26C>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|10/13|c.1576-26C>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|9/11|c.1948-26C>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|10/13|c.2092-26C>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|9/12|c.994-26C>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|9/12|c.1321-26C>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000535268|protein_coding|8/11|c.727-26C>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000431368|protein_coding|8/11|c.1108-26C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000452656|protein_coding|7/9|c.988-26C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000496575|processed_transcript|2/2|n.130-26C>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000433183|protein_coding|2/2|c.106-26C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 31289782 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000433183|protein_coding|3/3|c.*38C>T|||||38|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000424224|protein_coding||c.*861C>T|||||4160|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000454145|protein_coding||c.*589C>T|||||4178|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000453621|protein_coding||c.*895C>T|||||660|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|11/13|c.2191-22C>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|12/14|c.1693-22C>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|11/13|c.1672-22C>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|10/11|c.2044-22C>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|11/13|c.2188-22C>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|10/12|c.1090-22C>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|10/12|c.1417-22C>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000535268|protein_coding|9/11|c.823-22C>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000431368|protein_coding|9/11|c.1204-22C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000452656|protein_coding|8/9|c.1083+62C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000496575|processed_transcript|3/3|n.287C>T|||||| 22 31289891 . A G . . ANN=G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|12/14|c.2278A>G|p.Met760Val|2382/4340|2278/2751|760/916||,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|13/15|c.1780A>G|p.Met594Val|2059/2747|1780/2253|594/750||,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|12/14|c.1759A>G|p.Met587Val|1903/3669|1759/2232|587/743||,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|11/12|c.2131A>G|p.Met711Val|2167/2992|2131/2625|711/874||,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|12/14|c.2275A>G|p.Met759Val|2296/2836|2275/2748|759/915||,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|11/13|c.1177A>G|p.Met393Val|1562/2468|1177/1650|393/549||,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|11/13|c.1504A>G|p.Met502Val|1619/2470|1504/1980|502/659||,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000535268|protein_coding|10/12|c.910A>G|p.Met304Val|1290/2045|910/1383|304/460||,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000431368|protein_coding|10/12|c.1291A>G|p.Met431Val|1293/3050|1291/1764|431/587||WARNING_TRANSCRIPT_NO_START_CODON,G|3_prime_UTR_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000433183|protein_coding|3/3|c.*147A>G|||||147|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000424224|protein_coding||c.*861A>G|||||4269|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000454145|protein_coding||c.*589A>G|||||4287|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000453621|protein_coding||c.*895A>G|||||769|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000452656|protein_coding|8/9|c.1083+171A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,G|non_coding_exon_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000496575|processed_transcript|3/3|n.396A>G|||||| 22 31289923 . C T . . ANN=T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|12/14|c.2310C>T|p.Asp770Asp|2414/4340|2310/2751|770/916||,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|13/15|c.1812C>T|p.Asp604Asp|2091/2747|1812/2253|604/750||,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|12/14|c.1791C>T|p.Asp597Asp|1935/3669|1791/2232|597/743||,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|11/12|c.2163C>T|p.Asp721Asp|2199/2992|2163/2625|721/874||,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|12/14|c.2307C>T|p.Asp769Asp|2328/2836|2307/2748|769/915||,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|11/13|c.1209C>T|p.Asp403Asp|1594/2468|1209/1650|403/549||,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|11/13|c.1536C>T|p.Asp512Asp|1651/2470|1536/1980|512/659||,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000535268|protein_coding|10/12|c.942C>T|p.Asp314Asp|1322/2045|942/1383|314/460||,T|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000431368|protein_coding|10/12|c.1323C>T|p.Asp441Asp|1325/3050|1323/1764|441/587||WARNING_TRANSCRIPT_NO_START_CODON,T|3_prime_UTR_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000433183|protein_coding|3/3|c.*179C>T|||||179|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000424224|protein_coding||c.*861C>T|||||4301|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000454145|protein_coding||c.*589C>T|||||4319|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000453621|protein_coding||c.*895C>T|||||801|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000452656|protein_coding|8/9|c.1083+203C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000496575|processed_transcript|3/3|n.428C>T|||||| 22 31301792 . A AGCCACC . . ANN=GCCACC|downstream_gene_variant|MODIFIER|EIF4HP2|ENSG00000237977|transcript|ENST00000424380|processed_pseudogene||n.*563_*563insGCCACC|||||3025|,GCCACC|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|12/13|c.2376-19_2376-14dupGCCACC||||||INFO_REALIGN_3_PRIME,GCCACC|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|13/14|c.1878-19_1878-14dupGCCACC||||||INFO_REALIGN_3_PRIME,GCCACC|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|12/13|c.1857-19_1857-14dupGCCACC||||||INFO_REALIGN_3_PRIME,GCCACC|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|11/11|c.2229-19_2229-14dupGCCACC||||||INFO_REALIGN_3_PRIME,GCCACC|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|12/13|c.2373-19_2373-14dupGCCACC||||||INFO_REALIGN_3_PRIME,GCCACC|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|11/12|c.1275-19_1275-14dupGCCACC||||||INFO_REALIGN_3_PRIME,GCCACC|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|11/12|c.1602-19_1602-14dupGCCACC||||||INFO_REALIGN_3_PRIME,GCCACC|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000535268|protein_coding|10/11|c.1008-19_1008-14dupGCCACC||||||INFO_REALIGN_3_PRIME,GCCACC|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000431368|protein_coding|10/11|c.1389-19_1389-14dupGCCACC||||||WARNING_TRANSCRIPT_NO_START_CODON&INFO_REALIGN_3_PRIME,GCCACC|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000452656|protein_coding|8/9|c.1084-19_1084-14dupGCCACC||||||WARNING_TRANSCRIPT_NO_START_CODON&INFO_REALIGN_3_PRIME 22 31301817 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|12/13|c.2376-7G>A||||||,A|splice_region_variant&intron_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|13/14|c.1878-7G>A||||||,A|splice_region_variant&intron_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|12/13|c.1857-7G>A||||||,A|splice_region_variant&intron_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|11/11|c.2229-7G>A||||||,A|splice_region_variant&intron_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|12/13|c.2373-7G>A||||||,A|splice_region_variant&intron_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|11/12|c.1275-7G>A||||||,A|splice_region_variant&intron_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|11/12|c.1602-7G>A||||||,A|splice_region_variant&intron_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000535268|protein_coding|10/11|c.1008-7G>A||||||,A|splice_region_variant&intron_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000431368|protein_coding|10/11|c.1389-7G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|splice_region_variant&intron_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000452656|protein_coding|8/9|c.1084-7G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|EIF4HP2|ENSG00000237977|transcript|ENST00000424380|processed_pseudogene||n.*563G>A|||||3049| 22 31302233 . T C . . ANN=C|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|14/14|c.2658T>C|p.Asp886Asp|2762/4340|2658/2751|886/916||,C|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|15/15|c.2160T>C|p.Asp720Asp|2439/2747|2160/2253|720/750||,C|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|14/14|c.2139T>C|p.Asp713Asp|2283/3669|2139/2232|713/743||,C|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|14/14|c.2655T>C|p.Asp885Asp|2676/2836|2655/2748|885/915||,C|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|13/13|c.1557T>C|p.Asp519Asp|1942/2468|1557/1650|519/549||,C|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|13/13|c.1887T>C|p.Asp629Asp|2002/2470|1887/1980|629/659||,C|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000535268|protein_coding|12/12|c.1290T>C|p.Asp430Asp|1670/2045|1290/1383|430/460||,C|synonymous_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000431368|protein_coding|12/12|c.1671T>C|p.Asp557Asp|1673/3050|1671/1764|557/587||WARNING_TRANSCRIPT_NO_START_CODON,C|3_prime_UTR_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|12/12|c.*13T>C|||||13|,C|3_prime_UTR_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000452656|protein_coding|10/10|c.*13T>C|||||13|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|EIF4HP2|ENSG00000237977|transcript|ENST00000424380|processed_pseudogene||n.*563T>C|||||3465| 22 31302243 . G C . . ANN=C|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|14/14|c.2668G>C|p.Gly890Arg|2772/4340|2668/2751|890/916||,C|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|15/15|c.2170G>C|p.Gly724Arg|2449/2747|2170/2253|724/750||,C|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|14/14|c.2149G>C|p.Gly717Arg|2293/3669|2149/2232|717/743||,C|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|14/14|c.2665G>C|p.Gly889Arg|2686/2836|2665/2748|889/915||,C|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|13/13|c.1567G>C|p.Gly523Arg|1952/2468|1567/1650|523/549||,C|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|13/13|c.1897G>C|p.Gly633Arg|2012/2470|1897/1980|633/659||,C|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000535268|protein_coding|12/12|c.1300G>C|p.Gly434Arg|1680/2045|1300/1383|434/460||,C|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000431368|protein_coding|12/12|c.1681G>C|p.Gly561Arg|1683/3050|1681/1764|561/587||WARNING_TRANSCRIPT_NO_START_CODON,C|3_prime_UTR_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|12/12|c.*23G>C|||||23|,C|3_prime_UTR_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000452656|protein_coding|10/10|c.*23G>C|||||23|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|EIF4HP2|ENSG00000237977|transcript|ENST00000424380|processed_pseudogene||n.*563G>C|||||3475| 22 31322826 . G A . . ANN=A|synonymous_variant|LOW|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|26/26|c.3063C>T|p.Asp1021Asp|3472/5181|3063/3099|1021/1032||,A|synonymous_variant|LOW|MORC2|ENSG00000133422|transcript|ENST00000429468|protein_coding|2/2|c.234C>T|p.Asp78Asp|234/462|234/270|78/89||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|MORC2|ENSG00000133422|transcript|ENST00000445980|protein_coding|5/5|c.537C>T|p.Asp179Asp|538/766|537/573|179/190||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|27/27|c.2877C>T|p.Asp959Asp|4241/4469|2877/2913|959/970||,A|downstream_gene_variant|MODIFIER|MORC2-AS1|ENSG00000235989|transcript|ENST00000422995|antisense||n.*2274G>A|||||185|,A|downstream_gene_variant|MODIFIER|MORC2-AS1|ENSG00000235989|transcript|ENST00000432624|antisense||n.*2030G>A|||||289|,A|downstream_gene_variant|MODIFIER|MORC2-AS1|ENSG00000235989|transcript|ENST00000609557|antisense||n.*596G>A|||||1647|,A|intron_variant|MODIFIER|MORC2-AS1|ENSG00000235989|transcript|ENST00000441558|antisense|1/2|n.68-3038G>A|||||| 22 31323997 . C G . . ANN=G|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000397641|protein_coding|26/26|c.3030+9G>C||||||,G|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000397641|protein_coding|25/26|c.3030+9G>C||||||,G|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000215862|protein_coding|26/27|c.2844+9G>C||||||,G|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000215862|protein_coding|27/27|c.2844+9G>C||||||,G|downstream_gene_variant|MODIFIER|MORC2-AS1|ENSG00000235989|transcript|ENST00000422995|antisense||n.*2274C>G|||||1356|,G|downstream_gene_variant|MODIFIER|MORC2-AS1|ENSG00000235989|transcript|ENST00000432624|antisense||n.*2030C>G|||||1460|,G|downstream_gene_variant|MODIFIER|MORC2-AS1|ENSG00000235989|transcript|ENST00000609557|antisense||n.*596C>G|||||2818|,G|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|25/25|c.3030+9G>C||||||,G|intron_variant|MODIFIER|MORC2-AS1|ENSG00000235989|transcript|ENST00000441558|antisense|1/2|n.68-1867C>G||||||,G|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000429468|protein_coding|1/1|c.201+18G>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000445980|protein_coding|4/4|c.504+18G>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|26/26|c.2844+9G>C|||||| 22 31324124 . G C . . ANN=C|missense_variant|MODERATE|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|25/26|c.2912C>G|p.Ser971Cys|3321/5181|2912/3099|971/1032||,C|missense_variant|MODERATE|MORC2|ENSG00000133422|transcript|ENST00000429468|protein_coding|1/2|c.92C>G|p.Ser31Cys|92/462|92/270|31/89||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|MORC2|ENSG00000133422|transcript|ENST00000445980|protein_coding|4/5|c.395C>G|p.Ser132Cys|396/766|395/573|132/190||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|26/27|c.2726C>G|p.Ser909Cys|4090/4469|2726/2913|909/970||,C|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000397641|protein_coding|26/26|c.2912C>G||||||,C|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000397641|protein_coding|25/26|c.2912C>G||||||,C|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000215862|protein_coding|26/27|c.2726C>G||||||,C|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000215862|protein_coding|27/27|c.2726C>G||||||,C|downstream_gene_variant|MODIFIER|MORC2-AS1|ENSG00000235989|transcript|ENST00000422995|antisense||n.*2274G>C|||||1483|,C|downstream_gene_variant|MODIFIER|MORC2-AS1|ENSG00000235989|transcript|ENST00000432624|antisense||n.*2030G>C|||||1587|,C|downstream_gene_variant|MODIFIER|MORC2-AS1|ENSG00000235989|transcript|ENST00000609557|antisense||n.*596G>C|||||2945|,C|intron_variant|MODIFIER|MORC2-AS1|ENSG00000235989|transcript|ENST00000441558|antisense|1/2|n.68-1740G>C|||||| 22 31324221 . G A . . ANN=A|upstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000429468|protein_coding||c.-1C>T|||||6|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MORC2-AS1|ENSG00000235989|transcript|ENST00000422995|antisense||n.*2274G>A|||||1580|,A|downstream_gene_variant|MODIFIER|MORC2-AS1|ENSG00000235989|transcript|ENST00000432624|antisense||n.*2030G>A|||||1684|,A|downstream_gene_variant|MODIFIER|MORC2-AS1|ENSG00000235989|transcript|ENST00000609557|antisense||n.*596G>A|||||3042|,A|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|24/25|c.2842-27C>T||||||,A|intron_variant|MODIFIER|MORC2-AS1|ENSG00000235989|transcript|ENST00000441558|antisense|1/2|n.68-1643G>A||||||,A|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000445980|protein_coding|3/4|c.325-27C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|25/26|c.2656-27C>T|||||| 22 31328325 . C T . . ANN=T|upstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000429468|protein_coding||c.-1G>A|||||4110|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript||n.*595G>A|||||4240|,T|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|24/25|c.2841+21G>A||||||,T|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000445980|protein_coding|3/4|c.324+21G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|25/26|c.2655+21G>A||||||,T|non_coding_exon_variant|MODIFIER|MORC2-AS1|ENSG00000235989|transcript|ENST00000441558|antisense|3/3|n.314C>T|||||| 22 31328326 . G A . . ANN=A|upstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000429468|protein_coding||c.-1C>T|||||4111|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript||n.*595C>T|||||4239|,A|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|24/25|c.2841+20C>T||||||,A|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000445980|protein_coding|3/4|c.324+20C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|25/26|c.2655+20C>T||||||,A|non_coding_exon_variant|MODIFIER|MORC2-AS1|ENSG00000235989|transcript|ENST00000441558|antisense|3/3|n.315G>A|||||| 22 31328420 . G A . . ANN=A|synonymous_variant|LOW|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|24/26|c.2767C>T|p.Leu923Leu|3176/5181|2767/3099|923/1032||,A|synonymous_variant|LOW|MORC2|ENSG00000133422|transcript|ENST00000445980|protein_coding|3/5|c.250C>T|p.Leu84Leu|251/766|250/573|84/190||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|25/27|c.2581C>T|p.Leu861Leu|3945/4469|2581/2913|861/970||,A|upstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000429468|protein_coding||c.-1C>T|||||4205|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript||n.*595C>T|||||4145|,A|non_coding_exon_variant|MODIFIER|MORC2-AS1|ENSG00000235989|transcript|ENST00000441558|antisense|3/3|n.409G>A|||||| 22 31328525 . CAT C . . ANN=|splice_region_variant&intron_variant|LOW|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|23/25|c.2747+5_2747+6delAT||||||,|splice_region_variant&intron_variant|LOW|MORC2|ENSG00000133422|transcript|ENST00000445980|protein_coding|2/4|c.230+5_230+6delAT||||||WARNING_TRANSCRIPT_NO_START_CODON,|splice_region_variant&intron_variant|LOW|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|24/26|c.2561+5_2561+6delAT||||||,|upstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000429468|protein_coding||c.-1_-1delAT|||||4311|WARNING_TRANSCRIPT_NO_START_CODON,|downstream_gene_variant|MODIFIER|MORC2-AS1|ENSG00000235989|transcript|ENST00000441558|antisense||n.*425_*425delAT|||||90|,|downstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript||n.*595_*595delAT|||||4039| 22 31328570 . G A . . ANN=A|synonymous_variant|LOW|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|23/26|c.2709C>T|p.Thr903Thr|3118/5181|2709/3099|903/1032||,A|synonymous_variant|LOW|MORC2|ENSG00000133422|transcript|ENST00000445980|protein_coding|2/5|c.192C>T|p.Thr64Thr|193/766|192/573|64/190||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|24/27|c.2523C>T|p.Thr841Thr|3887/4469|2523/2913|841/970||,A|upstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000429468|protein_coding||c.-1C>T|||||4355|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MORC2-AS1|ENSG00000235989|transcript|ENST00000441558|antisense||n.*425G>A|||||134|,A|downstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript||n.*595C>T|||||3995| 22 31328601 . C T . . ANN=T|missense_variant|MODERATE|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|23/26|c.2678G>A|p.Arg893His|3087/5181|2678/3099|893/1032||,T|missense_variant|MODERATE|MORC2|ENSG00000133422|transcript|ENST00000445980|protein_coding|2/5|c.161G>A|p.Arg54His|162/766|161/573|54/190||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|24/27|c.2492G>A|p.Arg831His|3856/4469|2492/2913|831/970||,T|upstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000429468|protein_coding||c.-1G>A|||||4386|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|MORC2-AS1|ENSG00000235989|transcript|ENST00000441558|antisense||n.*425C>T|||||165|,T|downstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript||n.*595G>A|||||3964| 22 31328630 . G A . . ANN=A|synonymous_variant|LOW|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|23/26|c.2649C>T|p.Val883Val|3058/5181|2649/3099|883/1032||,A|synonymous_variant|LOW|MORC2|ENSG00000133422|transcript|ENST00000445980|protein_coding|2/5|c.132C>T|p.Val44Val|133/766|132/573|44/190||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|24/27|c.2463C>T|p.Val821Val|3827/4469|2463/2913|821/970||,A|upstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000429468|protein_coding||c.-1C>T|||||4415|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MORC2-AS1|ENSG00000235989|transcript|ENST00000441558|antisense||n.*425G>A|||||194|,A|downstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript||n.*595C>T|||||3935| 22 31328696 . G A . . ANN=A|synonymous_variant|LOW|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|23/26|c.2583C>T|p.Ser861Ser|2992/5181|2583/3099|861/1032||,A|synonymous_variant|LOW|MORC2|ENSG00000133422|transcript|ENST00000445980|protein_coding|2/5|c.66C>T|p.Ser22Ser|67/766|66/573|22/190||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|24/27|c.2397C>T|p.Ser799Ser|3761/4469|2397/2913|799/970||,A|upstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000429468|protein_coding||c.-1C>T|||||4481|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MORC2-AS1|ENSG00000235989|transcript|ENST00000441558|antisense||n.*425G>A|||||260|,A|downstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript||n.*595C>T|||||3869| 22 31328770 . A G . . ANN=G|upstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000429468|protein_coding||c.-1T>C|||||4555|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|MORC2-AS1|ENSG00000235989|transcript|ENST00000441558|antisense||n.*425A>G|||||334|,G|downstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript||n.*595T>C|||||3795|,G|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|22/25|c.2523-14T>C||||||,G|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000445980|protein_coding|1/4|c.6-14T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|23/26|c.2337-14T>C|||||| 22 31328841 . G A . . ANN=A|upstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000429468|protein_coding||c.-1C>T|||||4626|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MORC2-AS1|ENSG00000235989|transcript|ENST00000441558|antisense||n.*425G>A|||||405|,A|downstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript||n.*595C>T|||||3724|,A|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|22/25|c.2522+35C>T||||||,A|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000445980|protein_coding|1/4|c.5+35C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|23/26|c.2336+35C>T|||||| 22 31328929 . C G . . ANN=G|synonymous_variant|LOW|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|22/26|c.2469G>C|p.Arg823Arg|2878/5181|2469/3099|823/1032||,G|synonymous_variant|LOW|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|23/27|c.2283G>C|p.Arg761Arg|3647/4469|2283/2913|761/970||,G|upstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000429468|protein_coding||c.-1G>C|||||4714|WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000445980|protein_coding||c.-2G>C|||||48|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|MORC2-AS1|ENSG00000235989|transcript|ENST00000441558|antisense||n.*425C>G|||||493|,G|downstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript||n.*595G>C|||||3636| 22 31329056 . G C . . ANN=C|upstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000429468|protein_coding||c.-1C>G|||||4841|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000445980|protein_coding||c.-2C>G|||||175|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|MORC2-AS1|ENSG00000235989|transcript|ENST00000441558|antisense||n.*425G>C|||||620|,C|downstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript||n.*595C>G|||||3509|,C|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|21/25|c.2381-39C>G||||||,C|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|22/26|c.2195-39C>G|||||| 22 31330134 . T C . . ANN=C|synonymous_variant|LOW|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|20/26|c.2238A>G|p.Glu746Glu|2647/5181|2238/3099|746/1032||,C|synonymous_variant|LOW|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|21/27|c.2052A>G|p.Glu684Glu|3416/4469|2052/2913|684/970||,C|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000397641|protein_coding|20/26|c.2238A>G||||||,C|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000215862|protein_coding|21/27|c.2052A>G||||||,C|upstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000445980|protein_coding||c.-2A>G|||||1253|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|MORC2-AS1|ENSG00000235989|transcript|ENST00000441558|antisense||n.*425T>C|||||1698|,C|downstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript||n.*595A>G|||||2431| 22 31330169 . T C . . ANN=C|missense_variant|MODERATE|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|20/26|c.2203A>G|p.Ser735Gly|2612/5181|2203/3099|735/1032||,C|missense_variant|MODERATE|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|21/27|c.2017A>G|p.Ser673Gly|3381/4469|2017/2913|673/970||,C|upstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000445980|protein_coding||c.-2A>G|||||1288|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|MORC2-AS1|ENSG00000235989|transcript|ENST00000441558|antisense||n.*425T>C|||||1733|,C|downstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript||n.*595A>G|||||2396| 22 31330837 . C A . . ANN=A|missense_variant|MODERATE|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|19/26|c.2124G>T|p.Glu708Asp|2533/5181|2124/3099|708/1032||,A|missense_variant|MODERATE|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|20/27|c.1938G>T|p.Glu646Asp|3302/4469|1938/2913|646/970||,A|upstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000445980|protein_coding||c.-2G>T|||||1956|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MORC2-AS1|ENSG00000235989|transcript|ENST00000441558|antisense||n.*425C>A|||||2401|,A|downstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript||n.*595G>T|||||1728| 22 31331019 . T C . . ANN=C|missense_variant|MODERATE|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|19/26|c.1942A>G|p.Ser648Gly|2351/5181|1942/3099|648/1032||,C|missense_variant|MODERATE|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|20/27|c.1756A>G|p.Ser586Gly|3120/4469|1756/2913|586/970||,C|upstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000445980|protein_coding||c.-2A>G|||||2138|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|MORC2-AS1|ENSG00000235989|transcript|ENST00000441558|antisense||n.*425T>C|||||2583|,C|downstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript||n.*595A>G|||||1546| 22 31331210 . C T . . ANN=T|upstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000445980|protein_coding||c.-2G>A|||||2329|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|MORC2-AS1|ENSG00000235989|transcript|ENST00000441558|antisense||n.*425C>T|||||2774|,T|downstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript||n.*595G>A|||||1355|,T|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|18/25|c.1812+25G>A||||||,T|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|19/26|c.1626+25G>A|||||| 22 31331293 . C T . . ANN=T|missense_variant|MODERATE|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|18/26|c.1754G>A|p.Arg585His|2163/5181|1754/3099|585/1032||,T|missense_variant|MODERATE|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|19/27|c.1568G>A|p.Arg523His|2932/4469|1568/2913|523/970||,T|upstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000445980|protein_coding||c.-2G>A|||||2412|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|MORC2-AS1|ENSG00000235989|transcript|ENST00000441558|antisense||n.*425C>T|||||2857|,T|downstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript||n.*595G>A|||||1272| 22 31332494 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|17/25|c.1737+4C>T||||||,A|splice_region_variant&intron_variant|LOW|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|18/26|c.1551+4C>T||||||,A|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000397641|protein_coding|18/26|c.1737+4C>T||||||,A|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000397641|protein_coding|17/26|c.1737+4C>T||||||,A|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000215862|protein_coding|19/27|c.1551+4C>T||||||,A|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000215862|protein_coding|18/27|c.1551+4C>T||||||,A|upstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000445980|protein_coding||c.-2C>T|||||3613|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MORC2-AS1|ENSG00000235989|transcript|ENST00000441558|antisense||n.*425G>A|||||4058|,A|downstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript||n.*595C>T|||||71| 22 31332657 . C T . . ANN=T|sequence_feature|LOW|MORC2|ENSG00000133422|zinc_finger_region:CW-type|ENST00000397641|protein_coding|16/26|c.1605-27G>A||||||,T|sequence_feature|LOW|MORC2|ENSG00000133422|zinc_finger_region:CW-type|ENST00000397641|protein_coding|17/26|c.1605-27G>A||||||,T|sequence_feature|LOW|MORC2|ENSG00000133422|zinc_finger_region:CW-type|ENST00000397641|protein_coding|15/26|c.1605-27G>A||||||,T|sequence_feature|LOW|MORC2|ENSG00000133422|zinc_finger_region:CW-type|ENST00000215862|protein_coding|17/27|c.1419-27G>A||||||,T|sequence_feature|LOW|MORC2|ENSG00000133422|zinc_finger_region:CW-type|ENST00000215862|protein_coding|18/27|c.1419-27G>A||||||,T|sequence_feature|LOW|MORC2|ENSG00000133422|zinc_finger_region:CW-type|ENST00000215862|protein_coding|16/27|c.1419-27G>A||||||,T|upstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000445980|protein_coding||c.-2G>A|||||3776|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|MORC2-AS1|ENSG00000235989|transcript|ENST00000441558|antisense||n.*425C>T|||||4221|,T|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|16/25|c.1605-27G>A||||||,T|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|17/26|c.1419-27G>A||||||,T|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript|5/5|n.530-27G>A|||||| 22 31332906 . A T . . ANN=T|sequence_feature|LOW|MORC2|ENSG00000133422|zinc_finger_region:CW-type|ENST00000397641|protein_coding|16/26|c.1604+13T>A||||||,T|sequence_feature|LOW|MORC2|ENSG00000133422|zinc_finger_region:CW-type|ENST00000397641|protein_coding|17/26|c.1604+13T>A||||||,T|sequence_feature|LOW|MORC2|ENSG00000133422|zinc_finger_region:CW-type|ENST00000397641|protein_coding|15/26|c.1604+13T>A||||||,T|sequence_feature|LOW|MORC2|ENSG00000133422|zinc_finger_region:CW-type|ENST00000215862|protein_coding|17/27|c.1418+13T>A||||||,T|sequence_feature|LOW|MORC2|ENSG00000133422|zinc_finger_region:CW-type|ENST00000215862|protein_coding|18/27|c.1418+13T>A||||||,T|sequence_feature|LOW|MORC2|ENSG00000133422|zinc_finger_region:CW-type|ENST00000215862|protein_coding|16/27|c.1418+13T>A||||||,T|upstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000445980|protein_coding||c.-2T>A|||||4025|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|MORC2-AS1|ENSG00000235989|transcript|ENST00000441558|antisense||n.*425A>T|||||4470|,T|downstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000476152|retained_intron||n.*811T>A|||||4981|,T|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|16/25|c.1604+13T>A||||||,T|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|17/26|c.1418+13T>A||||||,T|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript|5/5|n.529+13T>A|||||| 22 31333033 . A G . . ANN=G|sequence_feature|LOW|MORC2|ENSG00000133422|zinc_finger_region:CW-type|ENST00000397641|protein_coding|16/26|c.1499-9T>C||||||,G|sequence_feature|LOW|MORC2|ENSG00000133422|zinc_finger_region:CW-type|ENST00000397641|protein_coding|17/26|c.1499-9T>C||||||,G|sequence_feature|LOW|MORC2|ENSG00000133422|zinc_finger_region:CW-type|ENST00000397641|protein_coding|15/26|c.1499-9T>C||||||,G|sequence_feature|LOW|MORC2|ENSG00000133422|zinc_finger_region:CW-type|ENST00000215862|protein_coding|17/27|c.1313-9T>C||||||,G|sequence_feature|LOW|MORC2|ENSG00000133422|zinc_finger_region:CW-type|ENST00000215862|protein_coding|18/27|c.1313-9T>C||||||,G|sequence_feature|LOW|MORC2|ENSG00000133422|zinc_finger_region:CW-type|ENST00000215862|protein_coding|16/27|c.1313-9T>C||||||,G|upstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000445980|protein_coding||c.-2T>C|||||4152|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|MORC2-AS1|ENSG00000235989|transcript|ENST00000441558|antisense||n.*425A>G|||||4597|,G|downstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000476152|retained_intron||n.*811T>C|||||4854|,G|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|15/25|c.1499-9T>C||||||,G|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|16/26|c.1313-9T>C||||||,G|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript|4/5|n.459-44T>C|||||| 22 31333544 . CG C . . ANN=|sequence_feature|LOW|MORC2|ENSG00000133422|zinc_finger_region:CW-type|ENST00000397641|protein_coding|16/26|c.1498+25delC||||||,|sequence_feature|LOW|MORC2|ENSG00000133422|zinc_finger_region:CW-type|ENST00000397641|protein_coding|17/26|c.1498+25delC||||||,|sequence_feature|LOW|MORC2|ENSG00000133422|zinc_finger_region:CW-type|ENST00000397641|protein_coding|15/26|c.1498+25delC||||||,|sequence_feature|LOW|MORC2|ENSG00000133422|zinc_finger_region:CW-type|ENST00000215862|protein_coding|17/27|c.1312+25delC||||||,|sequence_feature|LOW|MORC2|ENSG00000133422|zinc_finger_region:CW-type|ENST00000215862|protein_coding|18/27|c.1312+25delC||||||,|sequence_feature|LOW|MORC2|ENSG00000133422|zinc_finger_region:CW-type|ENST00000215862|protein_coding|16/27|c.1312+25delC||||||,|upstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000445980|protein_coding||c.-2delC|||||4664|WARNING_TRANSCRIPT_NO_START_CODON,|downstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000476152|retained_intron||n.*811delC|||||4342|,|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|15/25|c.1498+25delC||||||,|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|16/26|c.1312+25delC||||||,|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript|4/5|n.459-556delC|||||| 22 31333631 . T C . . ANN=C|synonymous_variant|LOW|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|15/26|c.1437A>G|p.Pro479Pro|1846/5181|1437/3099|479/1032||,C|synonymous_variant|LOW|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|16/27|c.1251A>G|p.Pro417Pro|2615/4469|1251/2913|417/970||,C|upstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000445980|protein_coding||c.-2A>G|||||4750|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000476152|retained_intron||n.*811A>G|||||4256|,C|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript|4/5|n.459-642A>G|||||| 22 31333724 . T C . . ANN=C|upstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000445980|protein_coding||c.-2A>G|||||4843|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000476152|retained_intron||n.*811A>G|||||4163|,C|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|14/25|c.1370-26A>G||||||,C|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|15/26|c.1184-26A>G||||||,C|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript|4/5|n.459-735A>G|||||| 22 31333747 . T C . . ANN=C|upstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000445980|protein_coding||c.-2A>G|||||4866|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000476152|retained_intron||n.*811A>G|||||4140|,C|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|14/25|c.1370-49A>G||||||,C|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|15/26|c.1184-49A>G||||||,C|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript|4/5|n.459-758A>G|||||| 22 31333797 . A T . . ANN=T|splice_region_variant&intron_variant|LOW|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|14/25|c.1369+5T>A||||||,T|splice_region_variant&intron_variant|LOW|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|15/26|c.1183+5T>A||||||,T|upstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000445980|protein_coding||c.-2T>A|||||4916|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000476152|retained_intron||n.*811T>A|||||4090|,T|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript|4/5|n.459-808T>A|||||| 22 31333830 . C T . . ANN=T|synonymous_variant|LOW|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|14/26|c.1341G>A|p.Leu447Leu|1750/5181|1341/3099|447/1032||,T|synonymous_variant|LOW|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|15/27|c.1155G>A|p.Leu385Leu|2519/4469|1155/2913|385/970||,T|upstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000445980|protein_coding||c.-2G>A|||||4949|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000476152|retained_intron||n.*811G>A|||||4057|,T|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript|4/5|n.459-841G>A|||||| 22 31334000 . G A . . ANN=A|downstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000476152|retained_intron||n.*811C>T|||||3887|,A|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|13/25|c.1215-44C>T||||||,A|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|14/26|c.1029-44C>T||||||,A|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript|4/5|n.459-1011C>T|||||| 22 31334011 . A G . . ANN=G|downstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000476152|retained_intron||n.*811T>C|||||3876|,G|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|13/25|c.1214+41T>C||||||,G|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|14/26|c.1028+41T>C||||||,G|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript|4/5|n.459-1022T>C|||||| 22 31334218 . G T . . ANN=T|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000397641|protein_coding|10/26|c.1074-26C>A||||||,T|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000397641|protein_coding|11/26|c.1074-26C>A||||||,T|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000397641|protein_coding|13/26|c.1074-26C>A||||||,T|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000397641|protein_coding|12/26|c.1074-26C>A||||||,T|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000215862|protein_coding|11/27|c.888-26C>A||||||,T|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000215862|protein_coding|12/27|c.888-26C>A||||||,T|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000215862|protein_coding|14/27|c.888-26C>A||||||,T|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000215862|protein_coding|13/27|c.888-26C>A||||||,T|downstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000476152|retained_intron||n.*811C>A|||||3669|,T|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|12/25|c.1074-26C>A||||||,T|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|13/26|c.888-26C>A||||||,T|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript|4/5|n.459-1229C>A|||||| 22 31334230 . G A . . ANN=A|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000397641|protein_coding|10/26|c.1074-38C>T||||||,A|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000397641|protein_coding|11/26|c.1074-38C>T||||||,A|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000397641|protein_coding|13/26|c.1074-38C>T||||||,A|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000397641|protein_coding|12/26|c.1074-38C>T||||||,A|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000215862|protein_coding|11/27|c.888-38C>T||||||,A|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000215862|protein_coding|12/27|c.888-38C>T||||||,A|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000215862|protein_coding|14/27|c.888-38C>T||||||,A|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000215862|protein_coding|13/27|c.888-38C>T||||||,A|downstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000476152|retained_intron||n.*811C>T|||||3657|,A|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|12/25|c.1074-38C>T||||||,A|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|13/26|c.888-38C>T||||||,A|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript|4/5|n.459-1241C>T|||||| 22 31335643 . G A . . ANN=A|synonymous_variant|LOW|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|12/26|c.1038C>T|p.Ala346Ala|1447/5181|1038/3099|346/1032||,A|synonymous_variant|LOW|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|13/27|c.852C>T|p.Ala284Ala|2216/4469|852/2913|284/970||,A|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000397641|protein_coding|10/26|c.1038C>T||||||,A|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000397641|protein_coding|11/26|c.1038C>T||||||,A|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000397641|protein_coding|13/26|c.1038C>T||||||,A|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000397641|protein_coding|12/26|c.1038C>T||||||,A|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000215862|protein_coding|11/27|c.852C>T||||||,A|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000215862|protein_coding|12/27|c.852C>T||||||,A|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000215862|protein_coding|14/27|c.852C>T||||||,A|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000215862|protein_coding|13/27|c.852C>T||||||,A|downstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000476152|retained_intron||n.*811C>T|||||2244|,A|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript|4/5|n.458+1102C>T|||||| 22 31335724 . T A . . ANN=A|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000397641|protein_coding|10/26|c.988-31A>T||||||,A|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000397641|protein_coding|11/26|c.988-31A>T||||||,A|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000397641|protein_coding|13/26|c.988-31A>T||||||,A|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000397641|protein_coding|12/26|c.988-31A>T||||||,A|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000215862|protein_coding|11/27|c.802-31A>T||||||,A|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000215862|protein_coding|12/27|c.802-31A>T||||||,A|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000215862|protein_coding|14/27|c.802-31A>T||||||,A|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000215862|protein_coding|13/27|c.802-31A>T||||||,A|downstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000476152|retained_intron||n.*811A>T|||||2163|,A|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|11/25|c.988-31A>T||||||,A|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|12/26|c.802-31A>T||||||,A|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript|4/5|n.458+1021A>T|||||| 22 31335958 . C T . . ANN=T|synonymous_variant|LOW|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|11/26|c.975G>A|p.Thr325Thr|1384/5181|975/3099|325/1032||,T|synonymous_variant|LOW|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|12/27|c.789G>A|p.Thr263Thr|2153/4469|789/2913|263/970||,T|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000397641|protein_coding|10/26|c.975G>A||||||,T|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000397641|protein_coding|11/26|c.975G>A||||||,T|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000397641|protein_coding|13/26|c.975G>A||||||,T|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000397641|protein_coding|12/26|c.975G>A||||||,T|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000215862|protein_coding|11/27|c.789G>A||||||,T|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000215862|protein_coding|12/27|c.789G>A||||||,T|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000215862|protein_coding|14/27|c.789G>A||||||,T|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000215862|protein_coding|13/27|c.789G>A||||||,T|downstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000476152|retained_intron||n.*811G>A|||||1929|,T|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript|4/5|n.458+787G>A|||||| 22 31335967 . T A . . ANN=A|synonymous_variant|LOW|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|11/26|c.966A>T|p.Gly322Gly|1375/5181|966/3099|322/1032||,A|synonymous_variant|LOW|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|12/27|c.780A>T|p.Gly260Gly|2144/4469|780/2913|260/970||,A|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000397641|protein_coding|10/26|c.966A>T||||||,A|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000397641|protein_coding|11/26|c.966A>T||||||,A|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000397641|protein_coding|13/26|c.966A>T||||||,A|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000397641|protein_coding|12/26|c.966A>T||||||,A|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000215862|protein_coding|11/27|c.780A>T||||||,A|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000215862|protein_coding|12/27|c.780A>T||||||,A|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000215862|protein_coding|14/27|c.780A>T||||||,A|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000215862|protein_coding|13/27|c.780A>T||||||,A|downstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000476152|retained_intron||n.*811A>T|||||1920|,A|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript|4/5|n.458+778A>T|||||| 22 31336717 . C G . . ANN=G|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000397641|protein_coding|10/26|c.904+28G>C||||||,G|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000397641|protein_coding|11/26|c.904+28G>C||||||,G|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000397641|protein_coding|13/26|c.904+28G>C||||||,G|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000397641|protein_coding|12/26|c.904+28G>C||||||,G|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000215862|protein_coding|11/27|c.718+28G>C||||||,G|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000215862|protein_coding|12/27|c.718+28G>C||||||,G|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000215862|protein_coding|14/27|c.718+28G>C||||||,G|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000215862|protein_coding|13/27|c.718+28G>C||||||,G|downstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000476152|retained_intron||n.*811G>C|||||1170|,G|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|10/25|c.904+28G>C||||||,G|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|11/26|c.718+28G>C||||||,G|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript|4/5|n.458+28G>C|||||| 22 31337378 . C T . . ANN=T|downstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000476152|retained_intron||n.*811G>A|||||509|,T|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|9/25|c.824+42G>A||||||,T|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|10/26|c.638+42G>A||||||,T|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript|3/5|n.378+42G>A|||||| 22 31337552 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|8/25|c.699-7T>C||||||,G|splice_region_variant&intron_variant|LOW|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|9/26|c.513-7T>C||||||,G|splice_region_variant&intron_variant|LOW|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript|2/5|n.253-7T>C||||||,G|downstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000476152|retained_intron||n.*811T>C|||||335| 22 31337565 . A G . . ANN=G|downstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000476152|retained_intron||n.*811T>C|||||322|,G|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|8/25|c.699-20T>C||||||,G|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|9/26|c.513-20T>C||||||,G|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript|2/5|n.253-20T>C|||||| 22 31337579 . CT C . . ANN=|downstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000476152|retained_intron||n.*811delA|||||307|,|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|8/25|c.699-35delA||||||,|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|9/26|c.513-35delA||||||,|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript|2/5|n.253-35delA|||||| 22 31337581 . G C . . ANN=C|downstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000476152|retained_intron||n.*811C>G|||||306|,C|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|8/25|c.699-36C>G||||||,C|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|9/26|c.513-36C>G||||||,C|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript|2/5|n.253-36C>G|||||| 22 31337589 . A G . . ANN=G|downstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000476152|retained_intron||n.*811T>C|||||298|,G|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|8/25|c.699-44T>C||||||,G|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|9/26|c.513-44T>C||||||,G|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript|2/5|n.253-44T>C|||||| 22 31337950 . T C . . ANN=C|missense_variant|MODERATE|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|8/26|c.626A>G|p.Asn209Ser|1035/5181|626/3099|209/1032||,C|missense_variant|MODERATE|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|9/27|c.440A>G|p.Asn147Ser|1804/4469|440/2913|147/970||,C|non_coding_exon_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript|2/6|n.180A>G||||||,C|non_coding_exon_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000476152|retained_intron|7/7|n.748A>G|||||| 22 31338017 . C T . . ANN=T|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|7/25|c.587-28G>A||||||,T|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|8/26|c.401-28G>A||||||,T|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript|1/5|n.141-28G>A||||||,T|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000476152|retained_intron|6/6|n.709-28G>A|||||| 22 31338027 . G A . . ANN=A|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|7/25|c.587-38C>T||||||,A|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|8/26|c.401-38C>T||||||,A|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript|1/5|n.141-38C>T||||||,A|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000476152|retained_intron|6/6|n.709-38C>T|||||| 22 31338030 . C T . . ANN=T|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|7/25|c.587-41G>A||||||,T|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|8/26|c.401-41G>A||||||,T|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript|1/5|n.141-41G>A||||||,T|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000476152|retained_intron|6/6|n.709-41G>A|||||| 22 31338050 . A T . . ANN=T|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|7/25|c.586+49T>A||||||,T|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|8/26|c.400+49T>A||||||,T|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript|1/5|n.140+49T>A||||||,T|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000476152|retained_intron|6/6|n.708+49T>A|||||| 22 31338069 . C T . . ANN=T|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|7/25|c.586+30G>A||||||,T|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|8/26|c.400+30G>A||||||,T|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript|1/5|n.140+30G>A||||||,T|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000476152|retained_intron|6/6|n.708+30G>A|||||| 22 31338196 . C A . . ANN=A|missense_variant|MODERATE|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|7/26|c.489G>T|p.Glu163Asp|898/5181|489/3099|163/1032||,A|missense_variant|MODERATE|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|8/27|c.303G>T|p.Glu101Asp|1667/4469|303/2913|101/970||,A|non_coding_exon_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript|1/6|n.43G>T||||||,A|non_coding_exon_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000476152|retained_intron|6/7|n.611G>T|||||| 22 31338246 . G A . . ANN=A|synonymous_variant|LOW|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|7/26|c.439C>T|p.Leu147Leu|848/5181|439/3099|147/1032||,A|synonymous_variant|LOW|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|8/27|c.253C>T|p.Leu85Leu|1617/4469|253/2913|85/970||,A|upstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript||n.-1C>T|||||8|,A|non_coding_exon_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000476152|retained_intron|6/7|n.561C>T|||||| 22 31342283 . CAG C . . ANN=|upstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript||n.-1_-1delCT|||||4046|,|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|6/25|c.426+43_426+44delCT||||||,|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|7/26|c.240+43_240+44delCT||||||,|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000476152|retained_intron|5/6|n.548+43_548+44delCT|||||| 22 31342349 . A G . . ANN=G|synonymous_variant|LOW|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|6/26|c.405T>C|p.His135His|814/5181|405/3099|135/1032||,G|synonymous_variant|LOW|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|7/27|c.219T>C|p.His73His|1583/4469|219/2913|73/970||,G|upstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript||n.-1T>C|||||4111|,G|non_coding_exon_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000476152|retained_intron|5/7|n.527T>C|||||| 22 31342355 . C T . . ANN=T|synonymous_variant|LOW|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|6/26|c.399G>A|p.Thr133Thr|808/5181|399/3099|133/1032||,T|synonymous_variant|LOW|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|7/27|c.213G>A|p.Thr71Thr|1577/4469|213/2913|71/970||,T|upstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript||n.-1G>A|||||4117|,T|non_coding_exon_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000476152|retained_intron|5/7|n.521G>A|||||| 22 31342376 . G C . . ANN=C|synonymous_variant|LOW|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|6/26|c.378C>G|p.Thr126Thr|787/5181|378/3099|126/1032||,C|synonymous_variant|LOW|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|7/27|c.192C>G|p.Thr64Thr|1556/4469|192/2913|64/970||,C|upstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript||n.-1C>G|||||4138|,C|non_coding_exon_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000476152|retained_intron|5/7|n.500C>G|||||| 22 31342429 . T C . . ANN=C|missense_variant|MODERATE|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|6/26|c.325A>G|p.Met109Val|734/5181|325/3099|109/1032||,C|missense_variant|MODERATE|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|7/27|c.139A>G|p.Met47Val|1503/4469|139/2913|47/970||,C|upstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript||n.-1A>G|||||4191|,C|non_coding_exon_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000476152|retained_intron|5/7|n.447A>G|||||| 22 31345821 . A C . . ANN=C|synonymous_variant|LOW|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|5/26|c.234T>G|p.Ala78Ala|643/5181|234/3099|78/1032||,C|synonymous_variant|LOW|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|6/27|c.48T>G|p.Ala16Ala|1412/4469|48/2913|16/970||,C|non_coding_exon_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000476152|retained_intron|4/7|n.356T>G|||||| 22 31345878 . G A . . ANN=A|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|4/25|c.227-50C>T||||||,A|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|5/26|c.41-50C>T||||||,A|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000476152|retained_intron|3/6|n.349-50C>T|||||| 22 31346345 . A G . . ANN=G|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|4/25|c.226+18T>C||||||,G|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|5/26|c.40+18T>C||||||,G|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000476152|retained_intron|3/6|n.348+18T>C|||||| 22 31346442 . AG A . . ANN=|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|3/25|c.158-12delC||||||,|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|4/26|c.-29-12delC||||||,|intron_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000476152|retained_intron|2/6|n.280-12delC|||||| 22 31479234 . G A . . ANN=A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000432777|protein_coding|5/6|c.152G>A|p.Gly51Glu|445/567|152/274|51/90||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000426927|protein_coding|3/5|c.152G>A|p.Gly51Glu|302/574|152/424|51/140||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000440425|protein_coding|3/5|c.152G>A|p.Gly51Glu|296/599|152/455|51/150||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000438223|protein_coding|2/6|c.152G>A|p.Gly51Glu|153/545|152/544|51/180||WARNING_TRANSCRIPT_INCOMPLETE,A|5_prime_UTR_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|2/21|c.-11G>A|||||11|,A|5_prime_UTR_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000422839|protein_coding|3/4|c.-11G>A|||||11|WARNING_TRANSCRIPT_NO_STOP_CODON,A|5_prime_UTR_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|2/21|c.-11G>A|||||11|,A|5_prime_UTR_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|2/20|c.-11G>A|||||11|,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000416786|protein_coding||c.-530G>A|||||1846|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000431481|protein_coding||c.-61G>A|||||4630|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron||n.-1G>A|||||4854|,A|non_coding_exon_variant|MODIFIER|RP3-412A9.16|ENSG00000273387|transcript|ENST00000609017|antisense|1/1|n.318C>T||||||,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000482444|processed_transcript|2/4|n.209G>A||||||,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000475548|processed_transcript|2/5|n.209G>A||||||,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000497697|retained_intron|2/3|n.208G>A||||||,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|2/20|n.207G>A|||||| 22 31479282 . C T . . ANN=T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|2/21|c.38C>T|p.Ala13Val|256/3198|38/2823|13/940||,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000432777|protein_coding|5/6|c.200C>T|p.Ala67Val|493/567|200/274|67/90||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000422839|protein_coding|3/4|c.38C>T|p.Ala13Val|493/566|38/111|13/36||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000426927|protein_coding|3/5|c.200C>T|p.Ala67Val|350/574|200/424|67/140||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000440425|protein_coding|3/5|c.200C>T|p.Ala67Val|344/599|200/455|67/150||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|2/21|c.38C>T|p.Ala13Val|256/3295|38/2748|13/915||,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|2/20|c.38C>T|p.Ala13Val|256/3130|38/2754|13/917||,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000438223|protein_coding|2/6|c.200C>T|p.Ala67Val|201/545|200/544|67/180||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000416786|protein_coding||c.-530C>T|||||1798|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000431481|protein_coding||c.-61C>T|||||4582|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron||n.-1C>T|||||4806|,T|non_coding_exon_variant|MODIFIER|RP3-412A9.16|ENSG00000273387|transcript|ENST00000609017|antisense|1/1|n.270G>A||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000482444|processed_transcript|2/4|n.257C>T||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000475548|processed_transcript|2/5|n.257C>T||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000497697|retained_intron|2/3|n.256C>T||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|2/20|n.255C>T|||||| 22 31479328 . G A . . ANN=A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000416786|protein_coding||c.-530G>A|||||1752|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000431481|protein_coding||c.-61G>A|||||4536|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron||n.-1G>A|||||4760|,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|2/20|c.51+33G>A||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000432777|protein_coding|5/5|c.213+33G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000422839|protein_coding|3/3|c.51+33G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000426927|protein_coding|3/4|c.213+33G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000482444|processed_transcript|2/3|n.270+33G>A||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000440425|protein_coding|3/4|c.213+33G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000475548|processed_transcript|2/4|n.270+33G>A||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000497697|retained_intron|2/2|n.269+33G>A||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|2/20|c.51+33G>A||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|2/19|c.51+33G>A||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|2/19|n.268+33G>A||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000438223|protein_coding|2/5|c.213+33G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|RP3-412A9.16|ENSG00000273387|transcript|ENST00000609017|antisense|1/1|n.224C>T|||||| 22 31483908 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000431481|protein_coding|1/5|c.-16G>A|||||16|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|RP3-412A9.16|ENSG00000273387|transcript|ENST00000609017|antisense||n.-1C>T|||||4357|,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron||n.-1G>A|||||180|,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000466272|retained_intron||n.-1G>A|||||1734|,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding||c.-1G>A|||||4546|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|2/20|c.52-43G>A||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000432777|protein_coding|5/5|c.214-43G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000422839|protein_coding|3/3|c.52-43G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000426927|protein_coding|3/4|c.214-43G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000482444|processed_transcript|2/3|n.271-11G>A||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000440425|protein_coding|3/4|c.214-43G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000475548|processed_transcript|2/4|n.271-43G>A||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000497697|retained_intron|2/2|n.270-43G>A||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|2/20|c.52-43G>A||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|2/19|c.52-43G>A||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|2/19|n.269-43G>A||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000438223|protein_coding|2/5|c.214-43G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000416786|protein_coding|2/6|c.-213-43G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 31483934 . T C . . ANN=C|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000431481|protein_coding|1/5|c.11T>C|p.Leu4Pro|71/534|11/474|4/157||WARNING_TRANSCRIPT_NO_STOP_CODON,C|upstream_gene_variant|MODIFIER|RP3-412A9.16|ENSG00000273387|transcript|ENST00000609017|antisense||n.-1A>G|||||4383|,C|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron||n.-1T>C|||||154|,C|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000466272|retained_intron||n.-1T>C|||||1708|,C|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding||c.-1T>C|||||4520|WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|2/20|c.52-17T>C||||||,C|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000432777|protein_coding|5/5|c.214-17T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000422839|protein_coding|3/3|c.52-17T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000426927|protein_coding|3/4|c.214-17T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000440425|protein_coding|3/4|c.214-17T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000475548|processed_transcript|2/4|n.271-17T>C||||||,C|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000497697|retained_intron|2/2|n.270-17T>C||||||,C|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|2/20|c.52-17T>C||||||,C|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|2/19|c.52-17T>C||||||,C|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|2/19|n.269-17T>C||||||,C|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000438223|protein_coding|2/5|c.214-17T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000416786|protein_coding|2/6|c.-213-17T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000482444|processed_transcript|3/4|n.286T>C|||||| 22 31484003 . G A . . ANN=A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|3/21|c.104G>A|p.Arg35Gln|322/3198|104/2823|35/940||,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000432777|protein_coding|6/6|c.266G>A|p.Arg89Gln|559/567|266/274|89/90||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000422839|protein_coding|4/4|c.104G>A|p.Arg35Gln|559/566|104/111|35/36||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000426927|protein_coding|4/5|c.266G>A|p.Arg89Gln|416/574|266/424|89/140||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000440425|protein_coding|4/5|c.266G>A|p.Arg89Gln|410/599|266/455|89/150||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|3/21|c.104G>A|p.Arg35Gln|322/3295|104/2748|35/915||,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|3/20|c.104G>A|p.Arg35Gln|322/3130|104/2754|35/917||,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000438223|protein_coding|3/6|c.266G>A|p.Arg89Gln|267/545|266/544|89/180||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000431481|protein_coding|1/5|c.80G>A|p.Arg27Gln|140/534|80/474|27/157||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|SMTN|ENSG00000183963|coiled-coil_region|ENST00000358743|protein_coding|3/21|c.104G>A||||||,A|sequence_feature|LOW|SMTN|ENSG00000183963|coiled-coil_region|ENST00000358743|protein_coding|4/21|c.104G>A||||||,A|sequence_feature|LOW|SMTN|ENSG00000183963|coiled-coil_region|ENST00000333137|protein_coding|3/21|c.104G>A||||||,A|sequence_feature|LOW|SMTN|ENSG00000183963|coiled-coil_region|ENST00000333137|protein_coding|4/21|c.104G>A||||||,A|sequence_feature|LOW|SMTN|ENSG00000183963|coiled-coil_region|ENST00000347557|protein_coding|3/20|c.104G>A||||||,A|sequence_feature|LOW|SMTN|ENSG00000183963|coiled-coil_region|ENST00000347557|protein_coding|4/20|c.104G>A||||||,A|5_prime_UTR_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000416786|protein_coding|3/7|c.-161G>A|||||560|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|RP3-412A9.16|ENSG00000273387|transcript|ENST00000609017|antisense||n.-1C>T|||||4452|,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron||n.-1G>A|||||85|,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000466272|retained_intron||n.-1G>A|||||1639|,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding||c.-1G>A|||||4451|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000482444|processed_transcript|3/4|n.355G>A||||||,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000475548|processed_transcript|3/5|n.323G>A||||||,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000497697|retained_intron|3/3|n.322G>A||||||,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|3/20|n.321G>A|||||| 22 31484055 . G A . . ANN=A|synonymous_variant|LOW|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|3/21|c.156G>A|p.Lys52Lys|374/3198|156/2823|52/940||,A|synonymous_variant|LOW|SMTN|ENSG00000183963|transcript|ENST00000426927|protein_coding|4/5|c.318G>A|p.Lys106Lys|468/574|318/424|106/140||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|SMTN|ENSG00000183963|transcript|ENST00000440425|protein_coding|4/5|c.318G>A|p.Lys106Lys|462/599|318/455|106/150||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|3/21|c.156G>A|p.Lys52Lys|374/3295|156/2748|52/915||,A|synonymous_variant|LOW|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|3/20|c.156G>A|p.Lys52Lys|374/3130|156/2754|52/917||,A|synonymous_variant|LOW|SMTN|ENSG00000183963|transcript|ENST00000438223|protein_coding|3/6|c.318G>A|p.Lys106Lys|319/545|318/544|106/180||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|SMTN|ENSG00000183963|transcript|ENST00000431481|protein_coding|1/5|c.132G>A|p.Lys44Lys|192/534|132/474|44/157||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|SMTN|ENSG00000183963|coiled-coil_region|ENST00000358743|protein_coding|3/21|c.156G>A||||||,A|sequence_feature|LOW|SMTN|ENSG00000183963|coiled-coil_region|ENST00000358743|protein_coding|4/21|c.156G>A||||||,A|sequence_feature|LOW|SMTN|ENSG00000183963|coiled-coil_region|ENST00000333137|protein_coding|3/21|c.156G>A||||||,A|sequence_feature|LOW|SMTN|ENSG00000183963|coiled-coil_region|ENST00000333137|protein_coding|4/21|c.156G>A||||||,A|sequence_feature|LOW|SMTN|ENSG00000183963|coiled-coil_region|ENST00000347557|protein_coding|3/20|c.156G>A||||||,A|sequence_feature|LOW|SMTN|ENSG00000183963|coiled-coil_region|ENST00000347557|protein_coding|4/20|c.156G>A||||||,A|5_prime_UTR_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000416786|protein_coding|3/7|c.-109G>A|||||508|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|RP3-412A9.16|ENSG00000273387|transcript|ENST00000609017|antisense||n.-1C>T|||||4504|,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron||n.-1G>A|||||33|,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000466272|retained_intron||n.-1G>A|||||1587|,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding||c.-1G>A|||||4399|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000432777|protein_coding||c.*567G>A|||||44|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000422839|protein_coding||c.*566G>A|||||45|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000482444|processed_transcript|3/4|n.407G>A||||||,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000475548|processed_transcript|3/5|n.375G>A||||||,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000497697|retained_intron|3/3|n.374G>A||||||,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|3/20|n.373G>A|||||| 22 31484483 . C T . . ANN=T|sequence_feature|LOW|SMTN|ENSG00000183963|coiled-coil_region|ENST00000358743|protein_coding|3/21|c.201-16C>T||||||,T|sequence_feature|LOW|SMTN|ENSG00000183963|coiled-coil_region|ENST00000358743|protein_coding|4/21|c.201-16C>T||||||,T|sequence_feature|LOW|SMTN|ENSG00000183963|coiled-coil_region|ENST00000333137|protein_coding|3/21|c.201-16C>T||||||,T|sequence_feature|LOW|SMTN|ENSG00000183963|coiled-coil_region|ENST00000333137|protein_coding|4/21|c.201-16C>T||||||,T|sequence_feature|LOW|SMTN|ENSG00000183963|coiled-coil_region|ENST00000347557|protein_coding|3/20|c.201-16C>T||||||,T|sequence_feature|LOW|SMTN|ENSG00000183963|coiled-coil_region|ENST00000347557|protein_coding|4/20|c.201-16C>T||||||,T|upstream_gene_variant|MODIFIER|RP3-412A9.16|ENSG00000273387|transcript|ENST00000609017|antisense||n.-1G>A|||||4932|,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000466272|retained_intron||n.-1C>T|||||1159|,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding||c.-1C>T|||||3971|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding||c.-91C>T|||||4861|,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron||n.-1C>T|||||4871|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000432777|protein_coding||c.*567C>T|||||472|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000422839|protein_coding||c.*566C>T|||||473|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000497697|retained_intron||n.*558C>T|||||244|,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|3/20|c.201-16C>T||||||,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000426927|protein_coding|4/4|c.363-16C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000440425|protein_coding|4/4|c.363-16C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|3/20|c.201-16C>T||||||,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|3/19|c.201-16C>T||||||,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000438223|protein_coding|3/5|c.363-16C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000416786|protein_coding|3/6|c.-64-16C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000431481|protein_coding|1/4|c.177-16C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|1/14|n.13-16C>T||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000482444|processed_transcript|4/4|n.495C>T||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000475548|processed_transcript|4/5|n.463C>T||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|4/20|n.461C>T|||||| 22 31484604 . G T . . ANN=T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000466272|retained_intron||n.-1G>T|||||1038|,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding||c.-1G>T|||||3850|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding||c.-91G>T|||||4740|,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron||n.-1G>T|||||4750|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000432777|protein_coding||c.*567G>T|||||593|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000422839|protein_coding||c.*566G>T|||||594|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000426927|protein_coding||c.*574G>T|||||44|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000482444|processed_transcript||n.*589G>T|||||27|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000440425|protein_coding||c.*599G>T|||||13|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000497697|retained_intron||n.*558G>T|||||365|,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|4/20|c.294+12G>T||||||,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000475548|processed_transcript|4/4|n.572+12G>T||||||,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|4/20|c.294+12G>T||||||,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|4/19|c.294+12G>T||||||,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|4/19|n.570+12G>T||||||,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000438223|protein_coding|4/5|c.456+12G>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000416786|protein_coding|4/6|c.30+12G>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000431481|protein_coding|2/4|c.270+12G>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|2/14|n.106+12G>T|||||| 22 31484880 . G A . . ANN=A|synonymous_variant|LOW|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|6/21|c.396G>A|p.Leu132Leu|614/3198|396/2823|132/940||,A|synonymous_variant|LOW|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|6/21|c.396G>A|p.Leu132Leu|614/3295|396/2748|132/915||,A|synonymous_variant|LOW|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|6/20|c.396G>A|p.Leu132Leu|614/3130|396/2754|132/917||,A|synonymous_variant|LOW|SMTN|ENSG00000183963|transcript|ENST00000416786|protein_coding|6/7|c.132G>A|p.Leu44Leu|661/823|132/294|44/97||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|SMTN|ENSG00000183963|transcript|ENST00000431481|protein_coding|4/5|c.372G>A|p.Leu124Leu|432/534|372/474|124/157||WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000466272|retained_intron||n.-1G>A|||||762|,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding||c.-1G>A|||||3574|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding||c.-91G>A|||||4464|,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron||n.-1G>A|||||4474|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000432777|protein_coding||c.*567G>A|||||869|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000422839|protein_coding||c.*566G>A|||||870|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000426927|protein_coding||c.*574G>A|||||320|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000482444|processed_transcript||n.*589G>A|||||303|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000440425|protein_coding||c.*599G>A|||||289|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000475548|processed_transcript||n.*598G>A|||||170|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000497697|retained_intron||n.*558G>A|||||641|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000438223|protein_coding||c.*545G>A|||||14|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|6/20|n.672G>A||||||,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|4/15|n.208G>A|||||| 22 31484930 . C T . . ANN=T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|6/21|c.446C>T|p.Ala149Val|664/3198|446/2823|149/940||,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|6/21|c.446C>T|p.Ala149Val|664/3295|446/2748|149/915||,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|6/20|c.446C>T|p.Ala149Val|664/3130|446/2754|149/917||,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000416786|protein_coding|6/7|c.182C>T|p.Ala61Val|711/823|182/294|61/97||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000431481|protein_coding|4/5|c.422C>T|p.Ala141Val|482/534|422/474|141/157||WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000466272|retained_intron||n.-1C>T|||||712|,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding||c.-1C>T|||||3524|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding||c.-91C>T|||||4414|,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron||n.-1C>T|||||4424|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000432777|protein_coding||c.*567C>T|||||919|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000422839|protein_coding||c.*566C>T|||||920|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000426927|protein_coding||c.*574C>T|||||370|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000482444|processed_transcript||n.*589C>T|||||353|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000440425|protein_coding||c.*599C>T|||||339|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000475548|processed_transcript||n.*598C>T|||||220|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000497697|retained_intron||n.*558C>T|||||691|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000438223|protein_coding||c.*545C>T|||||64|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|6/20|n.722C>T||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|4/15|n.258C>T|||||| 22 31485000 . AC A . . ANN=|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000466272|retained_intron||n.-1delC|||||641|,|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding||c.-1delC|||||3453|WARNING_TRANSCRIPT_NO_START_CODON,|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding||c.-91delC|||||4343|,|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron||n.-1delC|||||4353|,|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000432777|protein_coding||c.*567delC|||||990|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000422839|protein_coding||c.*566delC|||||991|WARNING_TRANSCRIPT_NO_STOP_CODON,|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000426927|protein_coding||c.*574delC|||||441|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000482444|processed_transcript||n.*589delC|||||424|,|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000440425|protein_coding||c.*599delC|||||410|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000475548|processed_transcript||n.*598delC|||||291|,|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000497697|retained_intron||n.*558delC|||||762|,|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000438223|protein_coding||c.*545delC|||||135|WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|6/20|c.471+47delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|6/20|c.471+47delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|6/19|c.471+47delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|6/19|n.747+47delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000416786|protein_coding|6/6|c.207+47delC||||||WARNING_TRANSCRIPT_NO_STOP_CODON&INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000431481|protein_coding|4/4|c.447+47delC||||||WARNING_TRANSCRIPT_NO_STOP_CODON&INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|4/14|n.283+47delC||||||INFO_REALIGN_3_PRIME 22 31485002 . C T . . ANN=T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000466272|retained_intron||n.-1C>T|||||640|,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding||c.-1C>T|||||3452|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding||c.-91C>T|||||4342|,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron||n.-1C>T|||||4352|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000432777|protein_coding||c.*567C>T|||||991|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000422839|protein_coding||c.*566C>T|||||992|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000426927|protein_coding||c.*574C>T|||||442|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000482444|processed_transcript||n.*589C>T|||||425|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000440425|protein_coding||c.*599C>T|||||411|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000475548|processed_transcript||n.*598C>T|||||292|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000497697|retained_intron||n.*558C>T|||||763|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000438223|protein_coding||c.*545C>T|||||136|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|6/20|c.471+47C>T||||||,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|6/20|c.471+47C>T||||||,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|6/19|c.471+47C>T||||||,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|6/19|n.747+47C>T||||||,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000416786|protein_coding|6/6|c.207+47C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000431481|protein_coding|4/4|c.447+47C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|4/14|n.283+47C>T|||||| 22 31485687 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|7/21|c.474G>A|p.Val158Val|692/3198|474/2823|158/940||,A|splice_region_variant&synonymous_variant|LOW|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|7/21|c.474G>A|p.Val158Val|692/3295|474/2748|158/915||,A|splice_region_variant&synonymous_variant|LOW|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|7/20|c.474G>A|p.Val158Val|692/3130|474/2754|158/917||,A|splice_region_variant&non_coding_exon_variant|LOW|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|7/20|n.750G>A||||||,A|splice_region_variant&synonymous_variant|LOW|SMTN|ENSG00000183963|transcript|ENST00000416786|protein_coding|7/7|c.210G>A|p.Val70Val|739/823|210/294|70/97||WARNING_TRANSCRIPT_NO_STOP_CODON,A|splice_region_variant&synonymous_variant|LOW|SMTN|ENSG00000183963|transcript|ENST00000431481|protein_coding|5/5|c.450G>A|p.Val150Val|510/534|450/474|150/157||WARNING_TRANSCRIPT_NO_STOP_CODON,A|splice_region_variant&non_coding_exon_variant|LOW|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|5/15|n.286G>A||||||,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding||c.-1G>A|||||2767|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding||c.-91G>A|||||3657|,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron||n.-1G>A|||||3667|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000432777|protein_coding||c.*567G>A|||||1676|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000422839|protein_coding||c.*566G>A|||||1677|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000426927|protein_coding||c.*574G>A|||||1127|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000482444|processed_transcript||n.*589G>A|||||1110|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000440425|protein_coding||c.*599G>A|||||1096|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000475548|processed_transcript||n.*598G>A|||||977|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000497697|retained_intron||n.*558G>A|||||1448|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000438223|protein_coding||c.*545G>A|||||821|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000466272|retained_intron|1/4|n.46G>A|||||| 22 31485749 . G A . . ANN=A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|7/21|c.536G>A|p.Gly179Asp|754/3198|536/2823|179/940||,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|7/21|c.536G>A|p.Gly179Asp|754/3295|536/2748|179/915||,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|7/20|c.536G>A|p.Gly179Asp|754/3130|536/2754|179/917||,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000416786|protein_coding|7/7|c.272G>A|p.Gly91Asp|801/823|272/294|91/97||WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding||c.-1G>A|||||2705|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding||c.-91G>A|||||3595|,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron||n.-1G>A|||||3605|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000432777|protein_coding||c.*567G>A|||||1738|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000422839|protein_coding||c.*566G>A|||||1739|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000426927|protein_coding||c.*574G>A|||||1189|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000482444|processed_transcript||n.*589G>A|||||1172|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000440425|protein_coding||c.*599G>A|||||1158|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000475548|processed_transcript||n.*598G>A|||||1039|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000497697|retained_intron||n.*558G>A|||||1510|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000438223|protein_coding||c.*545G>A|||||883|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000431481|protein_coding||c.*534G>A|||||38|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|7/20|n.812G>A||||||,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|5/15|n.348G>A||||||,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000466272|retained_intron|1/4|n.108G>A|||||| 22 31485865 . T C . . ANN=C|synonymous_variant|LOW|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|7/21|c.652T>C|p.Leu218Leu|870/3198|652/2823|218/940||,C|synonymous_variant|LOW|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|7/21|c.652T>C|p.Leu218Leu|870/3295|652/2748|218/915||,C|synonymous_variant|LOW|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|7/20|c.652T>C|p.Leu218Leu|870/3130|652/2754|218/917||,C|sequence_feature|LOW|SMTN|ENSG00000183963|compositionally_biased_region:Pro-rich|ENST00000358743|protein_coding|8/21|c.652T>C||||||,C|sequence_feature|LOW|SMTN|ENSG00000183963|compositionally_biased_region:Pro-rich|ENST00000358743|protein_coding|7/21|c.652T>C||||||,C|sequence_feature|LOW|SMTN|ENSG00000183963|compositionally_biased_region:Pro-rich|ENST00000333137|protein_coding|8/21|c.652T>C||||||,C|sequence_feature|LOW|SMTN|ENSG00000183963|compositionally_biased_region:Pro-rich|ENST00000333137|protein_coding|7/21|c.652T>C||||||,C|sequence_feature|LOW|SMTN|ENSG00000183963|compositionally_biased_region:Pro-rich|ENST00000347557|protein_coding|8/20|c.652T>C||||||,C|sequence_feature|LOW|SMTN|ENSG00000183963|compositionally_biased_region:Pro-rich|ENST00000347557|protein_coding|7/20|c.652T>C||||||,C|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding||c.-1T>C|||||2589|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding||c.-91T>C|||||3479|,C|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron||n.-1T>C|||||3489|,C|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000432777|protein_coding||c.*567T>C|||||1854|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000422839|protein_coding||c.*566T>C|||||1855|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000426927|protein_coding||c.*574T>C|||||1305|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000482444|processed_transcript||n.*589T>C|||||1288|,C|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000440425|protein_coding||c.*599T>C|||||1274|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000475548|processed_transcript||n.*598T>C|||||1155|,C|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000497697|retained_intron||n.*558T>C|||||1626|,C|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000438223|protein_coding||c.*545T>C|||||999|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000416786|protein_coding||c.*823T>C|||||94|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000431481|protein_coding||c.*534T>C|||||154|WARNING_TRANSCRIPT_NO_STOP_CODON,C|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|7/20|n.928T>C||||||,C|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|5/15|n.464T>C||||||,C|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000466272|retained_intron|1/4|n.224T>C|||||| 22 31485923 . C T . . ANN=T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|7/21|c.710C>T|p.Pro237Leu|928/3198|710/2823|237/940||,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|7/21|c.710C>T|p.Pro237Leu|928/3295|710/2748|237/915||,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|7/20|c.710C>T|p.Pro237Leu|928/3130|710/2754|237/917||,T|sequence_feature|LOW|SMTN|ENSG00000183963|compositionally_biased_region:Pro-rich|ENST00000358743|protein_coding|8/21|c.710C>T||||||,T|sequence_feature|LOW|SMTN|ENSG00000183963|compositionally_biased_region:Pro-rich|ENST00000358743|protein_coding|7/21|c.710C>T||||||,T|sequence_feature|LOW|SMTN|ENSG00000183963|compositionally_biased_region:Pro-rich|ENST00000333137|protein_coding|8/21|c.710C>T||||||,T|sequence_feature|LOW|SMTN|ENSG00000183963|compositionally_biased_region:Pro-rich|ENST00000333137|protein_coding|7/21|c.710C>T||||||,T|sequence_feature|LOW|SMTN|ENSG00000183963|compositionally_biased_region:Pro-rich|ENST00000347557|protein_coding|8/20|c.710C>T||||||,T|sequence_feature|LOW|SMTN|ENSG00000183963|compositionally_biased_region:Pro-rich|ENST00000347557|protein_coding|7/20|c.710C>T||||||,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding||c.-1C>T|||||2531|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding||c.-91C>T|||||3421|,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron||n.-1C>T|||||3431|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000432777|protein_coding||c.*567C>T|||||1912|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000422839|protein_coding||c.*566C>T|||||1913|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000426927|protein_coding||c.*574C>T|||||1363|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000482444|processed_transcript||n.*589C>T|||||1346|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000440425|protein_coding||c.*599C>T|||||1332|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000475548|processed_transcript||n.*598C>T|||||1213|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000497697|retained_intron||n.*558C>T|||||1684|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000438223|protein_coding||c.*545C>T|||||1057|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000416786|protein_coding||c.*823C>T|||||152|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000431481|protein_coding||c.*534C>T|||||212|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|7/20|n.986C>T||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|5/15|n.522C>T||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000466272|retained_intron|1/4|n.282C>T|||||| 22 31486760 . C T . . ANN=T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding||c.-1C>T|||||1694|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding||c.-91C>T|||||2584|,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron||n.-1C>T|||||2594|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000432777|protein_coding||c.*567C>T|||||2749|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000422839|protein_coding||c.*566C>T|||||2750|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000426927|protein_coding||c.*574C>T|||||2200|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000482444|processed_transcript||n.*589C>T|||||2183|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000440425|protein_coding||c.*599C>T|||||2169|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000475548|processed_transcript||n.*598C>T|||||2050|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000497697|retained_intron||n.*558C>T|||||2521|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000438223|protein_coding||c.*545C>T|||||1894|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000416786|protein_coding||c.*823C>T|||||989|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000431481|protein_coding||c.*534C>T|||||1049|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|8/20|c.866-34C>T||||||,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|8/20|c.866-34C>T||||||,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|8/19|c.866-34C>T||||||,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|8/19|n.1142-34C>T||||||,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|6/14|n.678-34C>T||||||,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000466272|retained_intron|2/3|n.438-34C>T|||||| 22 31486774 . C A . . ANN=A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding||c.-1C>A|||||1680|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding||c.-91C>A|||||2570|,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron||n.-1C>A|||||2580|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000432777|protein_coding||c.*567C>A|||||2763|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000422839|protein_coding||c.*566C>A|||||2764|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000426927|protein_coding||c.*574C>A|||||2214|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000482444|processed_transcript||n.*589C>A|||||2197|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000440425|protein_coding||c.*599C>A|||||2183|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000475548|processed_transcript||n.*598C>A|||||2064|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000497697|retained_intron||n.*558C>A|||||2535|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000438223|protein_coding||c.*545C>A|||||1908|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000416786|protein_coding||c.*823C>A|||||1003|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000431481|protein_coding||c.*534C>A|||||1063|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|8/20|c.866-20C>A||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|8/20|c.866-20C>A||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|8/19|c.866-20C>A||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|8/19|n.1142-20C>A||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|6/14|n.678-20C>A||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000466272|retained_intron|2/3|n.438-20C>A|||||| 22 31486785 . A T . . ANN=T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding||c.-1A>T|||||1669|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding||c.-91A>T|||||2559|,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron||n.-1A>T|||||2569|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000432777|protein_coding||c.*567A>T|||||2774|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000422839|protein_coding||c.*566A>T|||||2775|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000426927|protein_coding||c.*574A>T|||||2225|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000482444|processed_transcript||n.*589A>T|||||2208|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000440425|protein_coding||c.*599A>T|||||2194|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000475548|processed_transcript||n.*598A>T|||||2075|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000497697|retained_intron||n.*558A>T|||||2546|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000438223|protein_coding||c.*545A>T|||||1919|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000416786|protein_coding||c.*823A>T|||||1014|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000431481|protein_coding||c.*534A>T|||||1074|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|8/20|c.866-9A>T||||||,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|8/20|c.866-9A>T||||||,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|8/19|c.866-9A>T||||||,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|8/19|n.1142-9A>T||||||,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|6/14|n.678-9A>T||||||,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000466272|retained_intron|2/3|n.438-9A>T|||||| 22 31486870 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|9/20|c.937+5T>C||||||,C|splice_region_variant&intron_variant|LOW|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|9/20|c.937+5T>C||||||,C|splice_region_variant&intron_variant|LOW|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|9/19|c.937+5T>C||||||,C|splice_region_variant&intron_variant|LOW|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|9/19|n.1213+5T>C||||||,C|splice_region_variant&intron_variant|LOW|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|7/14|n.749+5T>C||||||,C|splice_region_variant&intron_variant|LOW|SMTN|ENSG00000183963|transcript|ENST00000466272|retained_intron|3/3|n.509+5T>C||||||,C|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding||c.-1T>C|||||1584|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding||c.-91T>C|||||2474|,C|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron||n.-1T>C|||||2484|,C|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000432777|protein_coding||c.*567T>C|||||2859|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000422839|protein_coding||c.*566T>C|||||2860|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000426927|protein_coding||c.*574T>C|||||2310|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000482444|processed_transcript||n.*589T>C|||||2293|,C|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000440425|protein_coding||c.*599T>C|||||2279|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000475548|processed_transcript||n.*598T>C|||||2160|,C|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000497697|retained_intron||n.*558T>C|||||2631|,C|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000438223|protein_coding||c.*545T>C|||||2004|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000416786|protein_coding||c.*823T>C|||||1099|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000431481|protein_coding||c.*534T>C|||||1159|WARNING_TRANSCRIPT_NO_STOP_CODON 22 31486900 . C T . . ANN=T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding||c.-1C>T|||||1554|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding||c.-91C>T|||||2444|,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron||n.-1C>T|||||2454|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000432777|protein_coding||c.*567C>T|||||2889|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000422839|protein_coding||c.*566C>T|||||2890|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000426927|protein_coding||c.*574C>T|||||2340|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000482444|processed_transcript||n.*589C>T|||||2323|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000440425|protein_coding||c.*599C>T|||||2309|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000475548|processed_transcript||n.*598C>T|||||2190|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000497697|retained_intron||n.*558C>T|||||2661|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000438223|protein_coding||c.*545C>T|||||2034|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000416786|protein_coding||c.*823C>T|||||1129|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000431481|protein_coding||c.*534C>T|||||1189|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|9/20|c.937+35C>T||||||,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|9/20|c.937+35C>T||||||,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|9/19|c.937+35C>T||||||,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|9/19|n.1213+35C>T||||||,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|7/14|n.749+35C>T||||||,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000466272|retained_intron|3/3|n.509+35C>T|||||| 22 31486911 . C G . . ANN=G|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding||c.-1C>G|||||1543|WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding||c.-91C>G|||||2433|,G|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron||n.-1C>G|||||2443|,G|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000432777|protein_coding||c.*567C>G|||||2900|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000422839|protein_coding||c.*566C>G|||||2901|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000426927|protein_coding||c.*574C>G|||||2351|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000482444|processed_transcript||n.*589C>G|||||2334|,G|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000440425|protein_coding||c.*599C>G|||||2320|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000475548|processed_transcript||n.*598C>G|||||2201|,G|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000497697|retained_intron||n.*558C>G|||||2672|,G|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000438223|protein_coding||c.*545C>G|||||2045|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000416786|protein_coding||c.*823C>G|||||1140|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000431481|protein_coding||c.*534C>G|||||1200|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|9/20|c.938-36C>G||||||,G|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|9/20|c.938-36C>G||||||,G|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|9/19|c.938-36C>G||||||,G|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|9/19|n.1214-36C>G||||||,G|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|7/14|n.750-36C>G||||||,G|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000466272|retained_intron|3/3|n.510-36C>G|||||| 22 31486985 . C T . . ANN=T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|10/21|c.976C>T|p.Arg326Trp|1194/3198|976/2823|326/940||,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|10/21|c.976C>T|p.Arg326Trp|1194/3295|976/2748|326/915||,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|10/20|c.976C>T|p.Arg326Trp|1194/3130|976/2754|326/917||,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding||c.-1C>T|||||1469|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding||c.-91C>T|||||2359|,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron||n.-1C>T|||||2369|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000432777|protein_coding||c.*567C>T|||||2974|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000422839|protein_coding||c.*566C>T|||||2975|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000426927|protein_coding||c.*574C>T|||||2425|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000482444|processed_transcript||n.*589C>T|||||2408|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000440425|protein_coding||c.*599C>T|||||2394|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000475548|processed_transcript||n.*598C>T|||||2275|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000497697|retained_intron||n.*558C>T|||||2746|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000438223|protein_coding||c.*545C>T|||||2119|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000416786|protein_coding||c.*823C>T|||||1214|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000431481|protein_coding||c.*534C>T|||||1274|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|10/20|n.1252C>T||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|8/15|n.788C>T||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000466272|retained_intron|4/4|n.548C>T|||||| 22 31487064 . C T . . ANN=T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|10/21|c.1055C>T|p.Pro352Leu|1273/3198|1055/2823|352/940||,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|10/21|c.1055C>T|p.Pro352Leu|1273/3295|1055/2748|352/915||,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|10/20|c.1055C>T|p.Pro352Leu|1273/3130|1055/2754|352/917||,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding||c.-1C>T|||||1390|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding||c.-91C>T|||||2280|,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron||n.-1C>T|||||2290|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000432777|protein_coding||c.*567C>T|||||3053|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000422839|protein_coding||c.*566C>T|||||3054|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000426927|protein_coding||c.*574C>T|||||2504|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000482444|processed_transcript||n.*589C>T|||||2487|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000440425|protein_coding||c.*599C>T|||||2473|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000475548|processed_transcript||n.*598C>T|||||2354|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000497697|retained_intron||n.*558C>T|||||2825|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000438223|protein_coding||c.*545C>T|||||2198|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000416786|protein_coding||c.*823C>T|||||1293|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000431481|protein_coding||c.*534C>T|||||1353|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000466272|retained_intron||n.*576C>T|||||51|,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|10/20|n.1331C>T||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|8/15|n.867C>T|||||| 22 31487268 . G A . . ANN=A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|10/21|c.1259G>A|p.Gly420Asp|1477/3198|1259/2823|420/940||,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|10/21|c.1259G>A|p.Gly420Asp|1477/3295|1259/2748|420/915||,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|10/20|c.1259G>A|p.Gly420Asp|1477/3130|1259/2754|420/917||,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding||c.-1G>A|||||1186|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding||c.-91G>A|||||2076|,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron||n.-1G>A|||||2086|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000432777|protein_coding||c.*567G>A|||||3257|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000422839|protein_coding||c.*566G>A|||||3258|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000426927|protein_coding||c.*574G>A|||||2708|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000482444|processed_transcript||n.*589G>A|||||2691|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000440425|protein_coding||c.*599G>A|||||2677|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000475548|processed_transcript||n.*598G>A|||||2558|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000497697|retained_intron||n.*558G>A|||||3029|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000438223|protein_coding||c.*545G>A|||||2402|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000416786|protein_coding||c.*823G>A|||||1497|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000431481|protein_coding||c.*534G>A|||||1557|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000466272|retained_intron||n.*576G>A|||||255|,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|10/20|n.1535G>A||||||,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|8/15|n.1071G>A|||||| 22 31487354 . G A . . ANN=A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|10/21|c.1345G>A|p.Gly449Ser|1563/3198|1345/2823|449/940||,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|10/21|c.1345G>A|p.Gly449Ser|1563/3295|1345/2748|449/915||,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|10/20|c.1345G>A|p.Gly449Ser|1563/3130|1345/2754|449/917||,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding||c.-1G>A|||||1100|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding||c.-91G>A|||||1990|,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron||n.-1G>A|||||2000|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000432777|protein_coding||c.*567G>A|||||3343|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000422839|protein_coding||c.*566G>A|||||3344|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000426927|protein_coding||c.*574G>A|||||2794|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000482444|processed_transcript||n.*589G>A|||||2777|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000440425|protein_coding||c.*599G>A|||||2763|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000475548|processed_transcript||n.*598G>A|||||2644|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000497697|retained_intron||n.*558G>A|||||3115|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000438223|protein_coding||c.*545G>A|||||2488|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000416786|protein_coding||c.*823G>A|||||1583|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000431481|protein_coding||c.*534G>A|||||1643|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000466272|retained_intron||n.*576G>A|||||341|,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|10/20|n.1621G>A||||||,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|8/15|n.1157G>A|||||| 22 31487510 . G A . . ANN=A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding||c.-1G>A|||||944|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding||c.-91G>A|||||1834|,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron||n.-1G>A|||||1844|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000432777|protein_coding||c.*567G>A|||||3499|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000422839|protein_coding||c.*566G>A|||||3500|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000426927|protein_coding||c.*574G>A|||||2950|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000482444|processed_transcript||n.*589G>A|||||2933|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000440425|protein_coding||c.*599G>A|||||2919|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000475548|processed_transcript||n.*598G>A|||||2800|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000497697|retained_intron||n.*558G>A|||||3271|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000438223|protein_coding||c.*545G>A|||||2644|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000416786|protein_coding||c.*823G>A|||||1739|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000431481|protein_coding||c.*534G>A|||||1799|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000466272|retained_intron||n.*576G>A|||||497|,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|10/20|c.1459+42G>A||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|10/20|c.1459+42G>A||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|10/19|c.1459+42G>A||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|10/19|n.1735+42G>A||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|8/14|n.1271+42G>A|||||| 22 31487512 . A T . . ANN=T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding||c.-1A>T|||||942|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding||c.-91A>T|||||1832|,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron||n.-1A>T|||||1842|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000432777|protein_coding||c.*567A>T|||||3501|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000422839|protein_coding||c.*566A>T|||||3502|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000426927|protein_coding||c.*574A>T|||||2952|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000482444|processed_transcript||n.*589A>T|||||2935|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000440425|protein_coding||c.*599A>T|||||2921|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000475548|processed_transcript||n.*598A>T|||||2802|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000497697|retained_intron||n.*558A>T|||||3273|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000438223|protein_coding||c.*545A>T|||||2646|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000416786|protein_coding||c.*823A>T|||||1741|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000431481|protein_coding||c.*534A>T|||||1801|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000466272|retained_intron||n.*576A>T|||||499|,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|10/20|c.1459+44A>T||||||,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|10/20|c.1459+44A>T||||||,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|10/19|c.1459+44A>T||||||,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|10/19|n.1735+44A>T||||||,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|8/14|n.1271+44A>T|||||| 22 31487679 . G A . . ANN=A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|11/21|c.1478G>A|p.Arg493Gln|1696/3198|1478/2823|493/940||,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|11/21|c.1478G>A|p.Arg493Gln|1696/3295|1478/2748|493/915||,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|11/20|c.1478G>A|p.Arg493Gln|1696/3130|1478/2754|493/917||,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding||c.-1G>A|||||775|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding||c.-91G>A|||||1665|,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron||n.-1G>A|||||1675|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000432777|protein_coding||c.*567G>A|||||3668|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000422839|protein_coding||c.*566G>A|||||3669|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000426927|protein_coding||c.*574G>A|||||3119|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000482444|processed_transcript||n.*589G>A|||||3102|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000440425|protein_coding||c.*599G>A|||||3088|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000475548|processed_transcript||n.*598G>A|||||2969|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000497697|retained_intron||n.*558G>A|||||3440|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000438223|protein_coding||c.*545G>A|||||2813|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000416786|protein_coding||c.*823G>A|||||1908|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000431481|protein_coding||c.*534G>A|||||1968|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000466272|retained_intron||n.*576G>A|||||666|,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|11/20|n.1754G>A||||||,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|9/15|n.1290G>A|||||| 22 31487682 . C T . . ANN=T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|11/21|c.1481C>T|p.Ala494Val|1699/3198|1481/2823|494/940||,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|11/21|c.1481C>T|p.Ala494Val|1699/3295|1481/2748|494/915||,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|11/20|c.1481C>T|p.Ala494Val|1699/3130|1481/2754|494/917||,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding||c.-1C>T|||||772|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding||c.-91C>T|||||1662|,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron||n.-1C>T|||||1672|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000432777|protein_coding||c.*567C>T|||||3671|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000422839|protein_coding||c.*566C>T|||||3672|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000426927|protein_coding||c.*574C>T|||||3122|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000482444|processed_transcript||n.*589C>T|||||3105|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000440425|protein_coding||c.*599C>T|||||3091|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000475548|processed_transcript||n.*598C>T|||||2972|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000497697|retained_intron||n.*558C>T|||||3443|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000438223|protein_coding||c.*545C>T|||||2816|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000416786|protein_coding||c.*823C>T|||||1911|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000431481|protein_coding||c.*534C>T|||||1971|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000466272|retained_intron||n.*576C>T|||||669|,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|11/20|n.1757C>T||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|9/15|n.1293C>T|||||| 22 31487693 . C T . . ANN=T|synonymous_variant|LOW|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|11/21|c.1492C>T|p.Leu498Leu|1710/3198|1492/2823|498/940||,T|synonymous_variant|LOW|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|11/21|c.1492C>T|p.Leu498Leu|1710/3295|1492/2748|498/915||,T|synonymous_variant|LOW|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|11/20|c.1492C>T|p.Leu498Leu|1710/3130|1492/2754|498/917||,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding||c.-1C>T|||||761|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding||c.-91C>T|||||1651|,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron||n.-1C>T|||||1661|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000432777|protein_coding||c.*567C>T|||||3682|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000422839|protein_coding||c.*566C>T|||||3683|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000426927|protein_coding||c.*574C>T|||||3133|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000482444|processed_transcript||n.*589C>T|||||3116|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000440425|protein_coding||c.*599C>T|||||3102|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000475548|processed_transcript||n.*598C>T|||||2983|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000497697|retained_intron||n.*558C>T|||||3454|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000438223|protein_coding||c.*545C>T|||||2827|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000416786|protein_coding||c.*823C>T|||||1922|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000431481|protein_coding||c.*534C>T|||||1982|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000466272|retained_intron||n.*576C>T|||||680|,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|11/20|n.1768C>T||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|9/15|n.1304C>T|||||| 22 31487701 . C T . . ANN=T|synonymous_variant|LOW|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|11/21|c.1500C>T|p.Ser500Ser|1718/3198|1500/2823|500/940||,T|synonymous_variant|LOW|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|11/21|c.1500C>T|p.Ser500Ser|1718/3295|1500/2748|500/915||,T|synonymous_variant|LOW|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|11/20|c.1500C>T|p.Ser500Ser|1718/3130|1500/2754|500/917||,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding||c.-1C>T|||||753|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding||c.-91C>T|||||1643|,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron||n.-1C>T|||||1653|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000432777|protein_coding||c.*567C>T|||||3690|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000422839|protein_coding||c.*566C>T|||||3691|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000426927|protein_coding||c.*574C>T|||||3141|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000482444|processed_transcript||n.*589C>T|||||3124|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000440425|protein_coding||c.*599C>T|||||3110|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000475548|processed_transcript||n.*598C>T|||||2991|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000497697|retained_intron||n.*558C>T|||||3462|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000438223|protein_coding||c.*545C>T|||||2835|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000416786|protein_coding||c.*823C>T|||||1930|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000431481|protein_coding||c.*534C>T|||||1990|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000466272|retained_intron||n.*576C>T|||||688|,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|11/20|n.1776C>T||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|9/15|n.1312C>T|||||| 22 31487704 . C T . . ANN=T|synonymous_variant|LOW|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|11/21|c.1503C>T|p.Thr501Thr|1721/3198|1503/2823|501/940||,T|synonymous_variant|LOW|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|11/21|c.1503C>T|p.Thr501Thr|1721/3295|1503/2748|501/915||,T|synonymous_variant|LOW|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|11/20|c.1503C>T|p.Thr501Thr|1721/3130|1503/2754|501/917||,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding||c.-1C>T|||||750|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding||c.-91C>T|||||1640|,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron||n.-1C>T|||||1650|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000432777|protein_coding||c.*567C>T|||||3693|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000422839|protein_coding||c.*566C>T|||||3694|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000426927|protein_coding||c.*574C>T|||||3144|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000482444|processed_transcript||n.*589C>T|||||3127|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000440425|protein_coding||c.*599C>T|||||3113|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000475548|processed_transcript||n.*598C>T|||||2994|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000497697|retained_intron||n.*558C>T|||||3465|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000438223|protein_coding||c.*545C>T|||||2838|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000416786|protein_coding||c.*823C>T|||||1933|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000431481|protein_coding||c.*534C>T|||||1993|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000466272|retained_intron||n.*576C>T|||||691|,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|11/20|n.1779C>T||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|9/15|n.1315C>T|||||| 22 31487706 . G A . . ANN=A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|11/21|c.1505G>A|p.Ser502Asn|1723/3198|1505/2823|502/940||,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|11/21|c.1505G>A|p.Ser502Asn|1723/3295|1505/2748|502/915||,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|11/20|c.1505G>A|p.Ser502Asn|1723/3130|1505/2754|502/917||,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding||c.-1G>A|||||748|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding||c.-91G>A|||||1638|,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron||n.-1G>A|||||1648|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000432777|protein_coding||c.*567G>A|||||3695|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000422839|protein_coding||c.*566G>A|||||3696|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000426927|protein_coding||c.*574G>A|||||3146|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000482444|processed_transcript||n.*589G>A|||||3129|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000440425|protein_coding||c.*599G>A|||||3115|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000475548|processed_transcript||n.*598G>A|||||2996|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000497697|retained_intron||n.*558G>A|||||3467|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000438223|protein_coding||c.*545G>A|||||2840|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000416786|protein_coding||c.*823G>A|||||1935|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000431481|protein_coding||c.*534G>A|||||1995|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000466272|retained_intron||n.*576G>A|||||693|,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|11/20|n.1781G>A||||||,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|9/15|n.1317G>A|||||| 22 31487732 . C T . . ANN=T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|11/21|c.1531C>T|p.Arg511Cys|1749/3198|1531/2823|511/940||,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|11/21|c.1531C>T|p.Arg511Cys|1749/3295|1531/2748|511/915||,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|11/20|c.1531C>T|p.Arg511Cys|1749/3130|1531/2754|511/917||,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding||c.-1C>T|||||722|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding||c.-91C>T|||||1612|,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron||n.-1C>T|||||1622|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000432777|protein_coding||c.*567C>T|||||3721|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000422839|protein_coding||c.*566C>T|||||3722|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000426927|protein_coding||c.*574C>T|||||3172|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000482444|processed_transcript||n.*589C>T|||||3155|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000440425|protein_coding||c.*599C>T|||||3141|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000475548|processed_transcript||n.*598C>T|||||3022|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000497697|retained_intron||n.*558C>T|||||3493|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000438223|protein_coding||c.*545C>T|||||2866|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000416786|protein_coding||c.*823C>T|||||1961|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000431481|protein_coding||c.*534C>T|||||2021|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000466272|retained_intron||n.*576C>T|||||719|,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|11/20|n.1807C>T||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|9/15|n.1343C>T|||||| 22 31487733 . G A . . ANN=A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|11/21|c.1532G>A|p.Arg511His|1750/3198|1532/2823|511/940||,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|11/21|c.1532G>A|p.Arg511His|1750/3295|1532/2748|511/915||,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|11/20|c.1532G>A|p.Arg511His|1750/3130|1532/2754|511/917||,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding||c.-1G>A|||||721|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding||c.-91G>A|||||1611|,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron||n.-1G>A|||||1621|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000432777|protein_coding||c.*567G>A|||||3722|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000422839|protein_coding||c.*566G>A|||||3723|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000426927|protein_coding||c.*574G>A|||||3173|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000482444|processed_transcript||n.*589G>A|||||3156|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000440425|protein_coding||c.*599G>A|||||3142|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000475548|processed_transcript||n.*598G>A|||||3023|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000497697|retained_intron||n.*558G>A|||||3494|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000438223|protein_coding||c.*545G>A|||||2867|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000416786|protein_coding||c.*823G>A|||||1962|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000431481|protein_coding||c.*534G>A|||||2022|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000466272|retained_intron||n.*576G>A|||||720|,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|11/20|n.1808G>A||||||,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|9/15|n.1344G>A|||||| 22 31487814 . G A . . ANN=A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|11/21|c.1613G>A|p.Arg538Gln|1831/3198|1613/2823|538/940||,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|11/21|c.1613G>A|p.Arg538Gln|1831/3295|1613/2748|538/915||,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|11/20|c.1613G>A|p.Arg538Gln|1831/3130|1613/2754|538/917||,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding||c.-1G>A|||||640|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding||c.-91G>A|||||1530|,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron||n.-1G>A|||||1540|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000432777|protein_coding||c.*567G>A|||||3803|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000422839|protein_coding||c.*566G>A|||||3804|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000426927|protein_coding||c.*574G>A|||||3254|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000482444|processed_transcript||n.*589G>A|||||3237|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000440425|protein_coding||c.*599G>A|||||3223|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000475548|processed_transcript||n.*598G>A|||||3104|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000497697|retained_intron||n.*558G>A|||||3575|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000438223|protein_coding||c.*545G>A|||||2948|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000416786|protein_coding||c.*823G>A|||||2043|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000431481|protein_coding||c.*534G>A|||||2103|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000466272|retained_intron||n.*576G>A|||||801|,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|11/20|n.1889G>A||||||,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|9/15|n.1425G>A|||||| 22 31491249 . T C . . ANN=C|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000472911|retained_intron||n.-1T>C|||||4399|,C|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000466272|retained_intron||n.*576T>C|||||4236|,C|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|11/20|c.1633-40T>C||||||,C|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|11/20|c.1633-40T>C||||||,C|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|11/19|c.1633-40T>C||||||,C|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|11/19|n.1909-40T>C||||||,C|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|9/14|n.1445-40T>C||||||,C|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding|1/5|c.64-40T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding|1/8|c.430-40T>C||||||,C|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron|2/10|n.405-40T>C|||||| 22 31491295 . G C . . ANN=C|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|12/21|c.1639G>C|p.Ala547Pro|1857/3198|1639/2823|547/940||,C|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|12/21|c.1639G>C|p.Ala547Pro|1857/3295|1639/2748|547/915||,C|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|12/20|c.1639G>C|p.Ala547Pro|1857/3130|1639/2754|547/917||,C|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding|2/6|c.70G>C|p.Ala24Pro|70/648|70/648|24/215||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding|2/9|c.436G>C|p.Ala146Pro|526/1735|436/1317|146/438||,C|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000472911|retained_intron||n.-1G>C|||||4353|,C|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000466272|retained_intron||n.*576G>C|||||4282|,C|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|12/20|n.1915G>C||||||,C|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|10/15|n.1451G>C||||||,C|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron|3/11|n.411G>C|||||| 22 31491332 . C T . . ANN=T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|12/21|c.1676C>T|p.Ala559Val|1894/3198|1676/2823|559/940||,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|12/21|c.1676C>T|p.Ala559Val|1894/3295|1676/2748|559/915||,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|12/20|c.1676C>T|p.Ala559Val|1894/3130|1676/2754|559/917||,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding|2/6|c.107C>T|p.Ala36Val|107/648|107/648|36/215||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding|2/9|c.473C>T|p.Ala158Val|563/1735|473/1317|158/438||,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000472911|retained_intron||n.-1C>T|||||4316|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000466272|retained_intron||n.*576C>T|||||4319|,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|12/20|n.1952C>T||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|10/15|n.1488C>T||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron|3/11|n.448C>T|||||| 22 31492743 . G A . . ANN=A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|14/21|c.1886G>A|p.Arg629Gln|2104/3198|1886/2823|629/940||,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|14/21|c.1886G>A|p.Arg629Gln|2104/3295|1886/2748|629/915||,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|14/20|c.1886G>A|p.Arg629Gln|2104/3130|1886/2754|629/917||,A|sequence_feature|LOW|SMTN|ENSG00000183963|coiled-coil_region|ENST00000358743|protein_coding|14/21|c.1886G>A||||||,A|sequence_feature|LOW|SMTN|ENSG00000183963|coiled-coil_region|ENST00000358743|protein_coding|13/21|c.1886G>A||||||,A|sequence_feature|LOW|SMTN|ENSG00000183963|coiled-coil_region|ENST00000333137|protein_coding|14/21|c.1886G>A||||||,A|sequence_feature|LOW|SMTN|ENSG00000183963|coiled-coil_region|ENST00000333137|protein_coding|13/21|c.1886G>A||||||,A|sequence_feature|LOW|SMTN|ENSG00000183963|coiled-coil_region|ENST00000347557|protein_coding|14/20|c.1886G>A||||||,A|sequence_feature|LOW|SMTN|ENSG00000183963|coiled-coil_region|ENST00000347557|protein_coding|13/20|c.1886G>A||||||,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000472911|retained_intron||n.-1G>A|||||2905|,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding|3/5|c.293-512G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding|3/8|c.659-512G>A||||||,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|14/20|n.2162G>A||||||,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|10/15|n.2899G>A||||||,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron|5/11|n.1539G>A|||||| 22 31492750 . G A . . ANN=A|synonymous_variant|LOW|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|14/21|c.1893G>A|p.Leu631Leu|2111/3198|1893/2823|631/940||,A|synonymous_variant|LOW|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|14/21|c.1893G>A|p.Leu631Leu|2111/3295|1893/2748|631/915||,A|synonymous_variant|LOW|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|14/20|c.1893G>A|p.Leu631Leu|2111/3130|1893/2754|631/917||,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000472911|retained_intron||n.-1G>A|||||2898|,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding|3/5|c.293-505G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding|3/8|c.659-505G>A||||||,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|14/20|n.2169G>A||||||,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|10/15|n.2906G>A||||||,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron|5/11|n.1546G>A|||||| 22 31492781 . C T . . ANN=T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|14/21|c.1924C>T|p.Arg642Cys|2142/3198|1924/2823|642/940||,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|14/21|c.1924C>T|p.Arg642Cys|2142/3295|1924/2748|642/915||,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|14/20|c.1924C>T|p.Arg642Cys|2142/3130|1924/2754|642/917||,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000472911|retained_intron||n.-1C>T|||||2867|,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding|3/5|c.293-474C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding|3/8|c.659-474C>T||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|14/20|n.2200C>T||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|10/15|n.2937C>T||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron|5/11|n.1577C>T|||||| 22 31492783 . C T . . ANN=T|synonymous_variant|LOW|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|14/21|c.1926C>T|p.Arg642Arg|2144/3198|1926/2823|642/940||,T|synonymous_variant|LOW|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|14/21|c.1926C>T|p.Arg642Arg|2144/3295|1926/2748|642/915||,T|synonymous_variant|LOW|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|14/20|c.1926C>T|p.Arg642Arg|2144/3130|1926/2754|642/917||,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000472911|retained_intron||n.-1C>T|||||2865|,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding|3/5|c.293-472C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding|3/8|c.659-472C>T||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|14/20|n.2202C>T||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|10/15|n.2939C>T||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron|5/11|n.1579C>T|||||| 22 31492816 . C G . . ANN=G|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|14/21|c.1959C>G|p.His653Gln|2177/3198|1959/2823|653/940||,G|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|14/21|c.1959C>G|p.His653Gln|2177/3295|1959/2748|653/915||,G|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|14/20|c.1959C>G|p.His653Gln|2177/3130|1959/2754|653/917||,G|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000472911|retained_intron||n.-1C>G|||||2832|,G|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding|3/5|c.293-439C>G||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding|3/8|c.659-439C>G||||||,G|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|14/20|n.2235C>G||||||,G|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|10/15|n.2972C>G||||||,G|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron|5/11|n.1612C>G|||||| 22 31492904 . G A . . ANN=A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000472911|retained_intron||n.-1G>A|||||2744|,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000504335|retained_intron||n.-1G>A|||||4958|,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|14/20|c.2026+21G>A||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|14/20|c.2026+21G>A||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|14/19|c.2026+21G>A||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|14/19|n.2302+21G>A||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|10/14|n.3039+21G>A||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding|3/5|c.293-351G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding|3/8|c.659-351G>A||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron|5/10|n.1679+21G>A|||||| 22 31492934 . C T . . ANN=T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000472911|retained_intron||n.-1C>T|||||2714|,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000504335|retained_intron||n.-1C>T|||||4928|,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|14/20|c.2027-50C>T||||||,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|14/20|c.2027-50C>T||||||,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|14/19|c.2027-50C>T||||||,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|14/19|n.2303-50C>T||||||,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|10/14|n.3040-50C>T||||||,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding|3/5|c.293-321C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding|3/8|c.659-321C>T||||||,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron|5/10|n.1680-50C>T|||||| 22 31492951 . C A . . ANN=A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000472911|retained_intron||n.-1C>A|||||2697|,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000504335|retained_intron||n.-1C>A|||||4911|,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|14/20|c.2027-33C>A||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|14/20|c.2027-33C>A||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|14/19|c.2027-33C>A||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|14/19|n.2303-33C>A||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|10/14|n.3040-33C>A||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding|3/5|c.293-304C>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding|3/8|c.659-304C>A||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron|5/10|n.1680-33C>A|||||| 22 31493052 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|15/20|c.2089+6G>A||||||,A|splice_region_variant&intron_variant|LOW|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|15/20|c.2089+6G>A||||||,A|splice_region_variant&intron_variant|LOW|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|15/19|c.2089+6G>A||||||,A|splice_region_variant&intron_variant|LOW|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|11/14|n.3102+6G>A||||||,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000472911|retained_intron||n.-1G>A|||||2596|,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000504335|retained_intron||n.-1G>A|||||4810|,A|TF_binding_site_variant|MODIFIER|||CTCF|MA0139.1|||||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding|3/5|c.293-203G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding|3/8|c.659-203G>A||||||,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|15/20|n.2371G>A||||||,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron|6/11|n.1748G>A|||||| 22 31493064 . C T . . ANN=T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000472911|retained_intron||n.-1C>T|||||2584|,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000504335|retained_intron||n.-1C>T|||||4798|,T|TF_binding_site_variant|MODIFIER|||CTCF|MA0139.1|||||||||,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|15/20|c.2089+18C>T||||||,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|15/20|c.2089+18C>T||||||,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|15/19|c.2089+18C>T||||||,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|11/14|n.3102+18C>T||||||,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding|3/5|c.293-191C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding|3/8|c.659-191C>T||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|15/20|n.2383C>T||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron|6/11|n.1760C>T|||||| 22 31494795 . A T . . ANN=T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|17/21|c.2302A>T|p.Ile768Phe|2520/3198|2302/2823|768/940||,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|17/21|c.2302A>T|p.Ile768Phe|2520/3295|2302/2748|768/915||,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|17/20|c.2302A>T|p.Ile768Phe|2520/3130|2302/2754|768/917||,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding|5/6|c.505A>T|p.Ile169Phe|505/648|505/648|169/215||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding|5/9|c.871A>T|p.Ile291Phe|961/1735|871/1317|291/438||,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000472911|retained_intron||n.-1A>T|||||853|,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000504335|retained_intron||n.-1A>T|||||3067|,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|16/20|n.2786A>T||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|13/15|n.3315A>T||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron|7/11|n.2163A>T|||||| 22 31494813 . G C . . ANN=C|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|17/21|c.2320G>C|p.Glu774Gln|2538/3198|2320/2823|774/940||,C|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|17/21|c.2320G>C|p.Glu774Gln|2538/3295|2320/2748|774/915||,C|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|17/20|c.2320G>C|p.Glu774Gln|2538/3130|2320/2754|774/917||,C|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding|5/6|c.523G>C|p.Glu175Gln|523/648|523/648|175/215||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding|5/9|c.889G>C|p.Glu297Gln|979/1735|889/1317|297/438||,C|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000472911|retained_intron||n.-1G>C|||||835|,C|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000504335|retained_intron||n.-1G>C|||||3049|,C|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|16/20|n.2804G>C||||||,C|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|13/15|n.3333G>C||||||,C|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron|7/11|n.2181G>C|||||| 22 31494866 . G T . . ANN=T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000472911|retained_intron||n.-1G>T|||||782|,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000504335|retained_intron||n.-1G>T|||||2996|,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|17/20|c.2333+40G>T||||||,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|17/20|c.2333+40G>T||||||,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|17/19|c.2333+40G>T||||||,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|16/19|n.2817+40G>T||||||,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|13/14|n.3346+40G>T||||||,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding|5/5|c.536+40G>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding|5/8|c.902+40G>T||||||,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron|7/10|n.2194+40G>T|||||| 22 31495154 . C T . . ANN=T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|18/21|c.2440C>T|p.Arg814Cys|2658/3198|2440/2823|814/940||,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|18/21|c.2440C>T|p.Arg814Cys|2658/3295|2440/2748|814/915||,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|18/20|c.2440C>T|p.Arg814Cys|2658/3130|2440/2754|814/917||,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding|6/6|c.643C>T|p.Arg215Cys|643/648|643/648|215/215||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding|6/9|c.1009C>T|p.Arg337Cys|1099/1735|1009/1317|337/438||,T|sequence_feature|LOW|SMTN|ENSG00000183963|beta_strand|ENST00000358743|protein_coding|18/21|c.2440C>T||||||,T|sequence_feature|LOW|SMTN|ENSG00000183963|beta_strand|ENST00000333137|protein_coding|18/21|c.2440C>T||||||,T|sequence_feature|LOW|SMTN|ENSG00000183963|domain:CH|ENST00000347557|protein_coding|20/20|c.2440C>T||||||,T|sequence_feature|LOW|SMTN|ENSG00000183963|domain:CH|ENST00000347557|protein_coding|18/20|c.2440C>T||||||,T|sequence_feature|LOW|SMTN|ENSG00000183963|domain:CH|ENST00000347557|protein_coding|19/20|c.2440C>T||||||,T|sequence_feature|LOW|SMTN|ENSG00000183963|beta_strand|ENST00000347557|protein_coding|18/20|c.2440C>T||||||,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000472911|retained_intron||n.-1C>T|||||494|,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000504335|retained_intron||n.-1C>T|||||2708|,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|17/20|n.2924C>T||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|14/15|n.3453C>T||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron|8/11|n.2301C>T|||||| 22 31495175 . G A . . ANN=A|sequence_feature|LOW|SMTN|ENSG00000183963|domain:CH|ENST00000347557|protein_coding|20/20|c.2451+10G>A||||||,A|sequence_feature|LOW|SMTN|ENSG00000183963|domain:CH|ENST00000347557|protein_coding|18/20|c.2451+10G>A||||||,A|sequence_feature|LOW|SMTN|ENSG00000183963|domain:CH|ENST00000347557|protein_coding|19/20|c.2451+10G>A||||||,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000472911|retained_intron||n.-1G>A|||||473|,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000504335|retained_intron||n.-1G>A|||||2687|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding||c.*648G>A|||||16|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|18/20|c.2451+10G>A||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|18/20|c.2451+10G>A||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|18/19|c.2451+10G>A||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|17/19|n.2935+10G>A||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding|6/8|c.1020+10G>A||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron|8/10|n.2312+10G>A||||||,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|14/15|n.3474G>A|||||| 22 31495684 . G C . . ANN=C|sequence_feature|LOW|SMTN|ENSG00000183963|domain:CH|ENST00000347557|protein_coding|20/20|c.2452-47G>C||||||,C|sequence_feature|LOW|SMTN|ENSG00000183963|domain:CH|ENST00000347557|protein_coding|18/20|c.2452-47G>C||||||,C|sequence_feature|LOW|SMTN|ENSG00000183963|domain:CH|ENST00000347557|protein_coding|19/20|c.2452-47G>C||||||,C|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000504335|retained_intron||n.-1G>C|||||2178|,C|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding||c.*648G>C|||||525|WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|18/20|c.2452-47G>C||||||,C|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|18/20|c.2452-47G>C||||||,C|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|18/19|c.2452-47G>C||||||,C|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|17/19|n.2936-47G>C||||||,C|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding|6/8|c.1021-47G>C||||||,C|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron|8/10|n.2313-47G>C||||||,C|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|14/15|n.3983G>C||||||,C|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000472911|retained_intron|1/2|n.37G>C|||||| 22 31496837 . C A . . ANN=A|sequence_feature|LOW|SMTN|ENSG00000183963|domain:CH|ENST00000347557|protein_coding|20/20|c.2603+955C>A||||||,A|sequence_feature|LOW|SMTN|ENSG00000183963|domain:CH|ENST00000347557|protein_coding|18/20|c.2603+955C>A||||||,A|sequence_feature|LOW|SMTN|ENSG00000183963|domain:CH|ENST00000347557|protein_coding|19/20|c.2603+955C>A||||||,A|sequence_feature|LOW|SMTN|ENSG00000183963|helix|ENST00000347557|protein_coding|20/20|c.2603+955C>A||||||,A|sequence_feature|LOW|SMTN|ENSG00000183963|helix|ENST00000347557|protein_coding|19/20|c.2603+955C>A||||||,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000504335|retained_intron||n.-1C>A|||||1025|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000400299|protein_coding||c.*501G>T|||||3926|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding||c.*648C>A|||||1678|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000402395|protein_coding||c.*856G>T|||||3921|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000490967|retained_intron||n.*2070G>T|||||3926|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000465536|processed_transcript||n.*703G>T|||||4075|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000491958|processed_transcript||n.*605G>T|||||4150|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000495533|retained_intron||n.*673G>T|||||4162|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000460642|processed_transcript||n.*500G>T|||||4174|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000469262|retained_intron||n.*334G>T|||||4263|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000465447|retained_intron||n.*707G>T|||||4588|,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|19/20|c.2604-34C>A||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|19/20|c.2604-34C>A||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|19/19|c.2603+955C>A||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|18/19|n.3088-34C>A||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|14/14|n.4182-34C>A||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding|7/8|c.1173-34C>A||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron|9/10|n.2465-34C>A||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000472911|retained_intron|1/1|n.235+955C>A|||||| 22 31497024 . C T . . ANN=T|sequence_feature|LOW|SMTN|ENSG00000183963|domain:CH|ENST00000347557|protein_coding|20/20|c.2603+1142C>T||||||,T|sequence_feature|LOW|SMTN|ENSG00000183963|domain:CH|ENST00000347557|protein_coding|18/20|c.2603+1142C>T||||||,T|sequence_feature|LOW|SMTN|ENSG00000183963|domain:CH|ENST00000347557|protein_coding|19/20|c.2603+1142C>T||||||,T|sequence_feature|LOW|SMTN|ENSG00000183963|helix|ENST00000347557|protein_coding|20/20|c.2603+1142C>T||||||,T|sequence_feature|LOW|SMTN|ENSG00000183963|helix|ENST00000347557|protein_coding|19/20|c.2603+1142C>T||||||,T|3_prime_UTR_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|20/21|c.*9C>T|||||9|,T|3_prime_UTR_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding|8/9|c.*9C>T|||||9|,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000504335|retained_intron||n.-1C>T|||||838|,T|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000400299|protein_coding||c.*501G>A|||||3739|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding||c.*648C>T|||||1865|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000402395|protein_coding||c.*856G>A|||||3734|,T|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000490967|retained_intron||n.*2070G>A|||||3739|,T|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000465536|processed_transcript||n.*703G>A|||||3888|,T|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000491958|processed_transcript||n.*605G>A|||||3963|,T|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000495533|retained_intron||n.*673G>A|||||3975|,T|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000460642|processed_transcript||n.*500G>A|||||3987|,T|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000469262|retained_intron||n.*334G>A|||||4076|,T|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000465447|retained_intron||n.*707G>A|||||4401|,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|20/20|c.2672+85C>T||||||,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|19/19|c.2603+1142C>T||||||,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000472911|retained_intron|1/1|n.235+1142C>T||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|19/20|n.3241C>T||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|15/15|n.4335C>T||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron|10/11|n.2618C>T|||||| 22 31497025 . G A . . ANN=A|sequence_feature|LOW|SMTN|ENSG00000183963|domain:CH|ENST00000347557|protein_coding|20/20|c.2603+1143G>A||||||,A|sequence_feature|LOW|SMTN|ENSG00000183963|domain:CH|ENST00000347557|protein_coding|18/20|c.2603+1143G>A||||||,A|sequence_feature|LOW|SMTN|ENSG00000183963|domain:CH|ENST00000347557|protein_coding|19/20|c.2603+1143G>A||||||,A|sequence_feature|LOW|SMTN|ENSG00000183963|helix|ENST00000347557|protein_coding|20/20|c.2603+1143G>A||||||,A|sequence_feature|LOW|SMTN|ENSG00000183963|helix|ENST00000347557|protein_coding|19/20|c.2603+1143G>A||||||,A|3_prime_UTR_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|20/21|c.*10G>A|||||10|,A|3_prime_UTR_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding|8/9|c.*10G>A|||||10|,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000504335|retained_intron||n.-1G>A|||||837|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000400299|protein_coding||c.*501C>T|||||3738|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding||c.*648G>A|||||1866|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000402395|protein_coding||c.*856C>T|||||3733|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000490967|retained_intron||n.*2070C>T|||||3738|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000465536|processed_transcript||n.*703C>T|||||3887|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000491958|processed_transcript||n.*605C>T|||||3962|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000495533|retained_intron||n.*673C>T|||||3974|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000460642|processed_transcript||n.*500C>T|||||3986|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000469262|retained_intron||n.*334C>T|||||4075|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000465447|retained_intron||n.*707C>T|||||4400|,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|20/20|c.2672+86G>A||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|19/19|c.2603+1143G>A||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000472911|retained_intron|1/1|n.235+1143G>A||||||,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|19/20|n.3242G>A||||||,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|15/15|n.4336G>A||||||,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron|10/11|n.2619G>A|||||| 22 31497035 . G A . . ANN=A|splice_region_variant|LOW|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|20/21|c.*20G>A||||||,A|splice_region_variant&non_coding_exon_variant|LOW|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|19/20|n.3252G>A||||||,A|splice_region_variant|LOW|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding|8/9|c.*20G>A||||||,A|splice_region_variant&non_coding_exon_variant|LOW|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron|10/11|n.2629G>A||||||,A|sequence_feature|LOW|SMTN|ENSG00000183963|domain:CH|ENST00000347557|protein_coding|20/20|c.2603+1153G>A||||||,A|sequence_feature|LOW|SMTN|ENSG00000183963|domain:CH|ENST00000347557|protein_coding|18/20|c.2603+1153G>A||||||,A|sequence_feature|LOW|SMTN|ENSG00000183963|domain:CH|ENST00000347557|protein_coding|19/20|c.2603+1153G>A||||||,A|sequence_feature|LOW|SMTN|ENSG00000183963|helix|ENST00000347557|protein_coding|20/20|c.2603+1153G>A||||||,A|sequence_feature|LOW|SMTN|ENSG00000183963|helix|ENST00000347557|protein_coding|19/20|c.2603+1153G>A||||||,A|3_prime_UTR_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|20/21|c.*20G>A|||||20|,A|3_prime_UTR_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding|8/9|c.*20G>A|||||20|,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000504335|retained_intron||n.-1G>A|||||827|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000400299|protein_coding||c.*501C>T|||||3728|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding||c.*648G>A|||||1876|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000402395|protein_coding||c.*856C>T|||||3723|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000490967|retained_intron||n.*2070C>T|||||3728|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000465536|processed_transcript||n.*703C>T|||||3877|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000491958|processed_transcript||n.*605C>T|||||3952|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000495533|retained_intron||n.*673C>T|||||3964|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000460642|processed_transcript||n.*500C>T|||||3976|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000469262|retained_intron||n.*334C>T|||||4065|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000465447|retained_intron||n.*707C>T|||||4390|,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|20/20|c.2672+96G>A||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|19/19|c.2603+1153G>A||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000472911|retained_intron|1/1|n.235+1153G>A||||||,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|15/15|n.4346G>A|||||| 22 31497054 . A C . . ANN=C|sequence_feature|LOW|SMTN|ENSG00000183963|domain:CH|ENST00000347557|protein_coding|20/20|c.2603+1172A>C||||||,C|sequence_feature|LOW|SMTN|ENSG00000183963|domain:CH|ENST00000347557|protein_coding|18/20|c.2603+1172A>C||||||,C|sequence_feature|LOW|SMTN|ENSG00000183963|domain:CH|ENST00000347557|protein_coding|19/20|c.2603+1172A>C||||||,C|sequence_feature|LOW|SMTN|ENSG00000183963|helix|ENST00000347557|protein_coding|20/20|c.2603+1172A>C||||||,C|sequence_feature|LOW|SMTN|ENSG00000183963|helix|ENST00000347557|protein_coding|19/20|c.2603+1172A>C||||||,C|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000504335|retained_intron||n.-1A>C|||||808|,C|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000400299|protein_coding||c.*501T>G|||||3709|,C|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding||c.*648A>C|||||1895|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000402395|protein_coding||c.*856T>G|||||3704|,C|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000490967|retained_intron||n.*2070T>G|||||3709|,C|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000465536|processed_transcript||n.*703T>G|||||3858|,C|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000491958|processed_transcript||n.*605T>G|||||3933|,C|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000495533|retained_intron||n.*673T>G|||||3945|,C|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000460642|processed_transcript||n.*500T>G|||||3957|,C|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000469262|retained_intron||n.*334T>G|||||4046|,C|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000465447|retained_intron||n.*707T>G|||||4371|,C|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|20/20|c.2672+115A>C||||||,C|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|20/20|c.*20+19A>C||||||,C|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|19/19|c.2603+1172A>C||||||,C|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|19/19|n.3252+19A>C||||||,C|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding|8/8|c.*20+19A>C||||||,C|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron|10/10|n.2629+19A>C||||||,C|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000472911|retained_intron|1/1|n.235+1172A>C||||||,C|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|15/15|n.4365A>C|||||| 22 31500260 . G A . . ANN=A|sequence_feature|LOW|SMTN|ENSG00000183963|domain:CH|ENST00000347557|protein_coding|20/20|c.2604-42G>A||||||,A|sequence_feature|LOW|SMTN|ENSG00000183963|domain:CH|ENST00000347557|protein_coding|18/20|c.2604-42G>A||||||,A|sequence_feature|LOW|SMTN|ENSG00000183963|domain:CH|ENST00000347557|protein_coding|19/20|c.2604-42G>A||||||,A|sequence_feature|LOW|SMTN|ENSG00000183963|helix|ENST00000347557|protein_coding|20/20|c.2604-42G>A||||||,A|sequence_feature|LOW|SMTN|ENSG00000183963|helix|ENST00000347557|protein_coding|19/20|c.2604-42G>A||||||,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000400299|protein_coding||c.*501C>T|||||503|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron||n.*5080G>A|||||2491|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000402395|protein_coding||c.*856C>T|||||498|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000490967|retained_intron||n.*2070C>T|||||503|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000465536|processed_transcript||n.*703C>T|||||652|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000491958|processed_transcript||n.*605C>T|||||727|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000495533|retained_intron||n.*673C>T|||||739|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000460642|processed_transcript||n.*500C>T|||||751|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000469262|retained_intron||n.*334C>T|||||840|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000465447|retained_intron||n.*707C>T|||||1165|,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|20/20|c.2673-42G>A||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|20/20|c.*21-42G>A||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|19/19|c.2604-42G>A||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|19/19|n.3253-42G>A||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding|8/8|c.*21-42G>A||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron|10/10|n.2630-42G>A||||||,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000472911|retained_intron|1/1|n.236-42G>A||||||,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000504335|retained_intron|2/2|n.2125G>A|||||| 22 31500411 . C T . . ANN=T|synonymous_variant|LOW|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|21/21|c.2782C>T|p.Leu928Leu|3000/3198|2782/2823|928/940||,T|synonymous_variant|LOW|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|20/20|c.2713C>T|p.Leu905Leu|2931/3130|2713/2754|905/917||,T|3_prime_UTR_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|21/21|c.*130C>T|||||3396|,T|3_prime_UTR_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding|9/9|c.*130C>T|||||3396|,T|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000400299|protein_coding||c.*501G>A|||||352|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron||n.*5080C>T|||||2642|,T|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000402395|protein_coding||c.*856G>A|||||347|,T|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000490967|retained_intron||n.*2070G>A|||||352|,T|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000465536|processed_transcript||n.*703G>A|||||501|,T|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000491958|processed_transcript||n.*605G>A|||||576|,T|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000495533|retained_intron||n.*673G>A|||||588|,T|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000460642|processed_transcript||n.*500G>A|||||600|,T|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000469262|retained_intron||n.*334G>A|||||689|,T|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000465447|retained_intron||n.*707G>A|||||1014|,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|20/20|n.3362C>T||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron|11/11|n.2739C>T||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000472911|retained_intron|2/2|n.345C>T||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000504335|retained_intron|2/2|n.2276C>T|||||| 22 31500415 . G A . . ANN=A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|21/21|c.2786G>A|p.Arg929Gln|3004/3198|2786/2823|929/940||,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|20/20|c.2717G>A|p.Arg906Gln|2935/3130|2717/2754|906/917||,A|3_prime_UTR_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|21/21|c.*134G>A|||||3400|,A|3_prime_UTR_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding|9/9|c.*134G>A|||||3400|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000400299|protein_coding||c.*501C>T|||||348|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron||n.*5080G>A|||||2646|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000402395|protein_coding||c.*856C>T|||||343|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000490967|retained_intron||n.*2070C>T|||||348|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000465536|processed_transcript||n.*703C>T|||||497|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000491958|processed_transcript||n.*605C>T|||||572|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000495533|retained_intron||n.*673C>T|||||584|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000460642|processed_transcript||n.*500C>T|||||596|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000469262|retained_intron||n.*334C>T|||||685|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000465447|retained_intron||n.*707C>T|||||1010|,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|20/20|n.3366G>A||||||,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron|11/11|n.2743G>A||||||,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000472911|retained_intron|2/2|n.349G>A||||||,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000504335|retained_intron|2/2|n.2280G>A|||||| 22 31500991 . G A . . ANN=A|missense_variant|MODERATE|SELM|ENSG00000198832|transcript|ENST00000400299|protein_coding|5/5|c.403C>T|p.Pro135Ser|466/694|403/438|135/145||,A|missense_variant|MODERATE|SELM|ENSG00000198832|transcript|ENST00000402395|protein_coding|7/7|c.403C>T|p.Pro135Ser|821/1054|403/438|135/145||,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding||c.*3041G>A|||||382|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding||c.*2966G>A|||||381|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding||c.*2972G>A|||||381|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron||n.*3560G>A|||||382|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron||n.*5080G>A|||||3222|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding||c.*1407G>A|||||382|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron||n.*2937G>A|||||382|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000472911|retained_intron||n.*543G>A|||||382|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000504335|retained_intron||n.*2608G>A|||||248|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000495533|retained_intron||n.*673C>T|||||8|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000460642|processed_transcript||n.*500C>T|||||20|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000469262|retained_intron||n.*334C>T|||||109|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000465447|retained_intron||n.*707C>T|||||434|,A|non_coding_exon_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000490967|retained_intron|4/4|n.1842C>T||||||,A|non_coding_exon_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000465536|processed_transcript|5/5|n.624C>T||||||,A|non_coding_exon_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000491958|processed_transcript|5/5|n.601C>T|||||| 22 31501031 . G A . . ANN=A|synonymous_variant|LOW|SELM|ENSG00000198832|transcript|ENST00000400299|protein_coding|5/5|c.363C>T|p.Asp121Asp|426/694|363/438|121/145||,A|synonymous_variant|LOW|SELM|ENSG00000198832|transcript|ENST00000402395|protein_coding|7/7|c.363C>T|p.Asp121Asp|781/1054|363/438|121/145||,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding||c.*3041G>A|||||422|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding||c.*2966G>A|||||421|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding||c.*2972G>A|||||421|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron||n.*3560G>A|||||422|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron||n.*5080G>A|||||3262|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding||c.*1407G>A|||||422|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron||n.*2937G>A|||||422|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000472911|retained_intron||n.*543G>A|||||422|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000504335|retained_intron||n.*2608G>A|||||288|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000469262|retained_intron||n.*334C>T|||||69|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000465447|retained_intron||n.*707C>T|||||394|,A|non_coding_exon_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000490967|retained_intron|4/4|n.1802C>T||||||,A|non_coding_exon_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000465536|processed_transcript|5/5|n.584C>T||||||,A|non_coding_exon_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000491958|processed_transcript|5/5|n.561C>T||||||,A|non_coding_exon_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000495533|retained_intron|2/2|n.641C>T||||||,A|non_coding_exon_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000460642|processed_transcript|5/5|n.480C>T|||||| 22 31501121 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|SELM|ENSG00000198832|transcript|ENST00000400299|protein_coding|4/4|c.280-7G>A||||||,T|splice_region_variant&intron_variant|LOW|SELM|ENSG00000198832|transcript|ENST00000402395|protein_coding|6/6|c.280-7G>A||||||,T|splice_region_variant&intron_variant|LOW|SELM|ENSG00000198832|transcript|ENST00000490967|retained_intron|3/3|n.1719-7G>A||||||,T|splice_region_variant&intron_variant|LOW|SELM|ENSG00000198832|transcript|ENST00000465536|processed_transcript|4/4|n.501-7G>A||||||,T|splice_region_variant&intron_variant|LOW|SELM|ENSG00000198832|transcript|ENST00000491958|processed_transcript|4/4|n.478-7G>A||||||,T|splice_region_variant&intron_variant|LOW|SELM|ENSG00000198832|transcript|ENST00000495533|retained_intron|1/1|n.558-7G>A||||||,T|splice_region_variant&intron_variant|LOW|SELM|ENSG00000198832|transcript|ENST00000460642|processed_transcript|4/4|n.397-7G>A||||||,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding||c.*3041C>T|||||512|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding||c.*2966C>T|||||511|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding||c.*2972C>T|||||511|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron||n.*3560C>T|||||512|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron||n.*5080C>T|||||3352|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding||c.*1407C>T|||||512|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron||n.*2937C>T|||||512|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000472911|retained_intron||n.*543C>T|||||512|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000504335|retained_intron||n.*2608C>T|||||378|,T|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000465447|retained_intron||n.*707G>A|||||304|,T|non_coding_exon_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000469262|retained_intron|4/4|n.313G>A|||||| 22 31501245 . A G . . ANN=G|synonymous_variant|LOW|SELM|ENSG00000198832|transcript|ENST00000400299|protein_coding|4/5|c.228T>C|p.Pro76Pro|291/694|228/438|76/145||,G|synonymous_variant|LOW|SELM|ENSG00000198832|transcript|ENST00000402395|protein_coding|6/7|c.228T>C|p.Pro76Pro|646/1054|228/438|76/145||,G|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding||c.*3041A>G|||||636|,G|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding||c.*2966A>G|||||635|,G|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding||c.*2972A>G|||||635|,G|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron||n.*3560A>G|||||636|,G|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron||n.*5080A>G|||||3476|,G|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding||c.*1407A>G|||||636|,G|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron||n.*2937A>G|||||636|,G|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000472911|retained_intron||n.*543A>G|||||636|,G|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000504335|retained_intron||n.*2608A>G|||||502|,G|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000465447|retained_intron||n.*707T>C|||||180|,G|non_coding_exon_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000490967|retained_intron|3/4|n.1667T>C||||||,G|non_coding_exon_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000465536|processed_transcript|4/5|n.449T>C||||||,G|non_coding_exon_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000491958|processed_transcript|4/5|n.426T>C||||||,G|non_coding_exon_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000495533|retained_intron|1/2|n.506T>C||||||,G|non_coding_exon_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000460642|processed_transcript|4/5|n.345T>C||||||,G|non_coding_exon_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000469262|retained_intron|4/4|n.189T>C|||||| 22 31501259 . T G . . ANN=G|missense_variant|MODERATE|SELM|ENSG00000198832|transcript|ENST00000400299|protein_coding|4/5|c.214A>C|p.Met72Leu|277/694|214/438|72/145||,G|missense_variant|MODERATE|SELM|ENSG00000198832|transcript|ENST00000402395|protein_coding|6/7|c.214A>C|p.Met72Leu|632/1054|214/438|72/145||,G|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding||c.*3041T>G|||||650|,G|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding||c.*2966T>G|||||649|,G|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding||c.*2972T>G|||||649|,G|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron||n.*3560T>G|||||650|,G|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron||n.*5080T>G|||||3490|,G|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding||c.*1407T>G|||||650|,G|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron||n.*2937T>G|||||650|,G|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000472911|retained_intron||n.*543T>G|||||650|,G|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000504335|retained_intron||n.*2608T>G|||||516|,G|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000465447|retained_intron||n.*707A>C|||||166|,G|non_coding_exon_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000490967|retained_intron|3/4|n.1653A>C||||||,G|non_coding_exon_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000465536|processed_transcript|4/5|n.435A>C||||||,G|non_coding_exon_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000491958|processed_transcript|4/5|n.412A>C||||||,G|non_coding_exon_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000495533|retained_intron|1/2|n.492A>C||||||,G|non_coding_exon_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000460642|processed_transcript|4/5|n.331A>C||||||,G|non_coding_exon_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000469262|retained_intron|4/4|n.175A>C|||||| 22 31501285 . T G . . ANN=G|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding||c.*3041T>G|||||676|,G|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding||c.*2966T>G|||||675|,G|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding||c.*2972T>G|||||675|,G|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron||n.*3560T>G|||||676|,G|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron||n.*5080T>G|||||3516|,G|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding||c.*1407T>G|||||676|,G|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron||n.*2937T>G|||||676|,G|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000472911|retained_intron||n.*543T>G|||||676|,G|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000504335|retained_intron||n.*2608T>G|||||542|,G|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000465447|retained_intron||n.*707A>C|||||140|,G|intron_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000400299|protein_coding|3/4|c.201-13A>C||||||,G|intron_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000402395|protein_coding|5/6|c.201-13A>C||||||,G|intron_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000490967|retained_intron|2/3|n.1640-13A>C||||||,G|intron_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000465536|processed_transcript|3/4|n.422-13A>C||||||,G|intron_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000491958|processed_transcript|3/4|n.399-13A>C||||||,G|intron_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000460642|processed_transcript|3/4|n.318-13A>C||||||,G|intron_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000469262|retained_intron|3/3|n.162-13A>C||||||,G|non_coding_exon_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000495533|retained_intron|1/2|n.466A>C|||||| 22 31501708 . T C . . ANN=C|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding||c.*3041T>C|||||1099|,C|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding||c.*2966T>C|||||1098|,C|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding||c.*2972T>C|||||1098|,C|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron||n.*3560T>C|||||1099|,C|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron||n.*5080T>C|||||3939|,C|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding||c.*1407T>C|||||1099|,C|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron||n.*2937T>C|||||1099|,C|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000472911|retained_intron||n.*543T>C|||||1099|,C|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000504335|retained_intron||n.*2608T>C|||||965|,C|intron_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000400299|protein_coding|2/4|c.166-30A>G||||||,C|intron_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000402395|protein_coding|4/6|c.166-30A>G||||||,C|intron_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000490967|retained_intron|1/3|n.1605-30A>G||||||,C|intron_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000465536|processed_transcript|2/4|n.387-30A>G||||||,C|intron_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000491958|processed_transcript|2/4|n.364-30A>G||||||,C|intron_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000460642|processed_transcript|2/4|n.283-30A>G||||||,C|intron_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000469262|retained_intron|2/3|n.127-30A>G||||||,C|non_coding_exon_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000495533|retained_intron|1/2|n.43A>G||||||,C|non_coding_exon_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000465447|retained_intron|2/2|n.424A>G|||||| 22 31501981 . G A . . ANN=A|upstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000495533|retained_intron||n.-1C>T|||||231|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding||c.*3041G>A|||||1372|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding||c.*2966G>A|||||1371|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding||c.*2972G>A|||||1371|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron||n.*3560G>A|||||1372|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron||n.*5080G>A|||||4212|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding||c.*1407G>A|||||1372|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron||n.*2937G>A|||||1372|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000472911|retained_intron||n.*543G>A|||||1372|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000504335|retained_intron||n.*2608G>A|||||1238|,A|intron_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000400299|protein_coding|1/4|c.130-30C>T||||||,A|intron_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000402395|protein_coding|3/6|c.130-30C>T||||||,A|intron_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000469262|retained_intron|1/3|n.91-30C>T||||||,A|intron_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000465447|retained_intron|1/1|n.181-30C>T||||||,A|non_coding_exon_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000490967|retained_intron|1/4|n.1539C>T||||||,A|non_coding_exon_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000465536|processed_transcript|2/5|n.321C>T||||||,A|non_coding_exon_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000491958|processed_transcript|2/5|n.298C>T||||||,A|non_coding_exon_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000460642|processed_transcript|2/5|n.217C>T|||||| 22 31520866 . C T . . ANN=T|splice_region_variant&non_coding_exon_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000463528|processed_transcript|5/5|n.525C>T||||||,T|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding|2/13|c.141C>T|p.Asn47Asn|190/3347|141/3021|47/1006||,T|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding|2/13|c.141C>T|p.Asn47Asn|162/2215|141/1917|47/638||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000412985|protein_coding|3/3|c.-61C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding|3/14|c.-61C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding|2/14|c.-35C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding|3/15|c.-35C>T||||||,T|5_prime_UTR_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412985|protein_coding|3/3|c.-61C>T|||||61|WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding|3/14|c.-61C>T|||||61|,T|5_prime_UTR_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding|2/14|c.-35C>T|||||961|,T|5_prime_UTR_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding|3/15|c.-35C>T|||||961|,T|upstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000402395|protein_coding||c.-419G>A|||||4811|,T|upstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding||c.-310C>T|||||2880|,T|upstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding||c.-281C>T|||||2909|,T|upstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding||c.-419C>T|||||2922|,T|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron|1/7|n.146-1496C>T||||||,T|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000420017|protein_coding|1/3|c.-116-1414C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 31520893 . G T . . ANN=T|splice_donor_variant&intron_variant|HIGH|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding|2/13|c.-9+1G>T||||||,T|splice_donor_variant&intron_variant|HIGH|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding|2/12|c.167+1G>T||||||,T|splice_donor_variant&intron_variant|HIGH|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding|3/14|c.-9+1G>T||||||,T|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding|2/13|c.168G>T|p.Arg56Ser|217/3347|168/3021|56/1006||,T|5_prime_UTR_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412985|protein_coding|3/3|c.-34G>T|||||34|WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding|3/14|c.-34G>T|||||34|,T|upstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000402395|protein_coding||c.-419C>A|||||4838|,T|upstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding||c.-310G>T|||||2853|,T|upstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding||c.-281G>T|||||2882|,T|upstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding||c.-419G>T|||||2895|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000463528|processed_transcript||n.*526G>T|||||26|,T|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron|1/7|n.146-1469G>T||||||,T|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000420017|protein_coding|1/3|c.-116-1387G>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON;LOF=(INPP5J|ENSG00000185133|12|0.25) 22 31520899 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding|2/13|c.-9+7T>C||||||,C|splice_region_variant&intron_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding|2/12|c.167+7T>C||||||,C|splice_region_variant&intron_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding|3/14|c.-9+7T>C||||||,C|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding|2/13|c.174T>C|p.Ala58Ala|223/3347|174/3021|58/1006||,C|5_prime_UTR_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412985|protein_coding|3/3|c.-28T>C|||||28|WARNING_TRANSCRIPT_INCOMPLETE,C|5_prime_UTR_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding|3/14|c.-28T>C|||||28|,C|upstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000402395|protein_coding||c.-419A>G|||||4844|,C|upstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding||c.-310T>C|||||2847|,C|upstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding||c.-281T>C|||||2876|,C|upstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding||c.-419T>C|||||2889|,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000463528|processed_transcript||n.*526T>C|||||32|,C|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron|1/7|n.146-1463T>C||||||,C|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000420017|protein_coding|1/3|c.-116-1381T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 31522377 . A G . . ANN=G|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding|3/13|c.1287A>G|p.Thr429Thr|1336/3347|1287/3021|429/1006||,G|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding|4/14|c.1086A>G|p.Thr362Thr|1458/3212|1086/2820|362/939||,G|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding|4/14|c.186A>G|p.Thr62Thr|382/2393|186/1920|62/639||,G|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding|3/13|c.183A>G|p.Thr61Thr|204/2215|183/1917|61/638||,G|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding|5/15|c.186A>G|p.Thr62Thr|504/2515|186/1920|62/639||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|7/13|c.1287A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|3/13|c.1287A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|5/13|c.1287A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|8/13|c.1287A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|6/13|c.1287A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|9/13|c.1287A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|4/13|c.1287A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|8/14|c.186A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|4/14|c.186A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|6/14|c.186A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|9/14|c.186A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|7/14|c.186A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|10/14|c.186A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|5/14|c.186A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|7/13|c.183A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|3/13|c.183A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|5/13|c.183A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|8/13|c.183A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|6/13|c.183A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|9/13|c.183A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|4/13|c.183A>G||||||,G|5_prime_UTR_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000420017|protein_coding|2/4|c.-19A>G|||||19|WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding||c.-310A>G|||||1369|,G|upstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding||c.-281A>G|||||1398|,G|upstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding||c.-419A>G|||||1411|,G|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000463528|processed_transcript||n.*526A>G|||||1510|,G|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412985|protein_coding||c.*805A>G|||||1018|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron|2/8|n.161A>G|||||| 22 31522450 . G A . . ANN=A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding|3/13|c.1360G>A|p.Asp454Asn|1409/3347|1360/3021|454/1006||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding|4/14|c.1159G>A|p.Asp387Asn|1531/3212|1159/2820|387/939||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000420017|protein_coding|2/4|c.55G>A|p.Asp19Asn|307/558|55/306|19/101||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding|4/14|c.259G>A|p.Asp87Asn|455/2393|259/1920|87/639||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding|3/13|c.256G>A|p.Asp86Asn|277/2215|256/1917|86/638||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding|5/15|c.259G>A|p.Asp87Asn|577/2515|259/1920|87/639||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|7/13|c.1360G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|3/13|c.1360G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|5/13|c.1360G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|8/13|c.1360G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|6/13|c.1360G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|9/13|c.1360G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|4/13|c.1360G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|8/14|c.259G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|4/14|c.259G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|6/14|c.259G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|9/14|c.259G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|7/14|c.259G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|10/14|c.259G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|5/14|c.259G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|7/13|c.256G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|3/13|c.256G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|5/13|c.256G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|8/13|c.256G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|6/13|c.256G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|9/13|c.256G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|4/13|c.256G>A||||||,A|upstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding||c.-310G>A|||||1296|,A|upstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding||c.-281G>A|||||1325|,A|upstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding||c.-419G>A|||||1338|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000463528|processed_transcript||n.*526G>A|||||1583|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412985|protein_coding||c.*805G>A|||||1091|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron|2/8|n.234G>A|||||| 22 31522455 . C T . . ANN=T|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding|3/13|c.1365C>T|p.Gly455Gly|1414/3347|1365/3021|455/1006||,T|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding|4/14|c.1164C>T|p.Gly388Gly|1536/3212|1164/2820|388/939||,T|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000420017|protein_coding|2/4|c.60C>T|p.Gly20Gly|312/558|60/306|20/101||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding|4/14|c.264C>T|p.Gly88Gly|460/2393|264/1920|88/639||,T|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding|3/13|c.261C>T|p.Gly87Gly|282/2215|261/1917|87/638||,T|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding|5/15|c.264C>T|p.Gly88Gly|582/2515|264/1920|88/639||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|7/13|c.1365C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|3/13|c.1365C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|5/13|c.1365C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|8/13|c.1365C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|6/13|c.1365C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|9/13|c.1365C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|4/13|c.1365C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|8/14|c.264C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|4/14|c.264C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|6/14|c.264C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|9/14|c.264C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|7/14|c.264C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|10/14|c.264C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|5/14|c.264C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|7/13|c.261C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|3/13|c.261C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|5/13|c.261C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|8/13|c.261C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|6/13|c.261C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|9/13|c.261C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|4/13|c.261C>T||||||,T|upstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding||c.-310C>T|||||1291|,T|upstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding||c.-281C>T|||||1320|,T|upstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding||c.-419C>T|||||1333|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000463528|processed_transcript||n.*526C>T|||||1588|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412985|protein_coding||c.*805C>T|||||1096|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron|2/8|n.239C>T|||||| 22 31522491 . A C . . ANN=C|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|7/13|c.1385+16A>C||||||,C|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|3/13|c.1385+16A>C||||||,C|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|5/13|c.1385+16A>C||||||,C|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|8/13|c.1385+16A>C||||||,C|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|6/13|c.1385+16A>C||||||,C|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|9/13|c.1385+16A>C||||||,C|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|4/13|c.1385+16A>C||||||,C|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|8/14|c.284+16A>C||||||,C|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|4/14|c.284+16A>C||||||,C|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|6/14|c.284+16A>C||||||,C|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|9/14|c.284+16A>C||||||,C|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|7/14|c.284+16A>C||||||,C|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|10/14|c.284+16A>C||||||,C|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|5/14|c.284+16A>C||||||,C|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|7/13|c.281+16A>C||||||,C|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|3/13|c.281+16A>C||||||,C|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|5/13|c.281+16A>C||||||,C|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|8/13|c.281+16A>C||||||,C|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|6/13|c.281+16A>C||||||,C|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|9/13|c.281+16A>C||||||,C|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|4/13|c.281+16A>C||||||,C|upstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding||c.-310A>C|||||1255|,C|upstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding||c.-281A>C|||||1284|,C|upstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding||c.-419A>C|||||1297|,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000463528|processed_transcript||n.*526A>C|||||1624|,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412985|protein_coding||c.*805A>C|||||1132|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding|3/12|c.1385+16A>C||||||,C|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding|4/13|c.1184+16A>C||||||,C|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron|2/7|n.259+16A>C||||||,C|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000420017|protein_coding|2/3|c.80+16A>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding|4/13|c.284+16A>C||||||,C|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding|3/12|c.281+16A>C||||||,C|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding|5/14|c.284+16A>C|||||| 22 31522624 . A G . . ANN=G|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding|4/13|c.1411A>G|p.Asn471Asp|1460/3347|1411/3021|471/1006||,G|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding|5/14|c.1210A>G|p.Asn404Asp|1582/3212|1210/2820|404/939||,G|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000420017|protein_coding|3/4|c.106A>G|p.Asn36Asp|358/558|106/306|36/101||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding|5/14|c.310A>G|p.Asn104Asp|506/2393|310/1920|104/639||,G|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding|4/13|c.307A>G|p.Asn103Asp|328/2215|307/1917|103/638||,G|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding|6/15|c.310A>G|p.Asn104Asp|628/2515|310/1920|104/639||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|7/13|c.1411A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|3/13|c.1411A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|5/13|c.1411A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|8/13|c.1411A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|6/13|c.1411A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|9/13|c.1411A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|4/13|c.1411A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|8/14|c.310A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|4/14|c.310A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|6/14|c.310A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|9/14|c.310A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|7/14|c.310A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|10/14|c.310A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|5/14|c.310A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|7/13|c.307A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|3/13|c.307A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|5/13|c.307A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|8/13|c.307A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|6/13|c.307A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|9/13|c.307A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|4/13|c.307A>G||||||,G|upstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding||c.-310A>G|||||1122|,G|upstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding||c.-281A>G|||||1151|,G|upstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding||c.-419A>G|||||1164|,G|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000463528|processed_transcript||n.*526A>G|||||1757|,G|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412985|protein_coding||c.*805A>G|||||1265|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron|3/8|n.285A>G|||||| 22 31522949 . G A . . ANN=A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding|5/13|c.1537G>A|p.Ala513Thr|1586/3347|1537/3021|513/1006||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding|6/14|c.1336G>A|p.Ala446Thr|1708/3212|1336/2820|446/939||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000420017|protein_coding|4/4|c.232G>A|p.Ala78Thr|484/558|232/306|78/101||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding|6/14|c.436G>A|p.Ala146Thr|632/2393|436/1920|146/639||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding|5/13|c.433G>A|p.Ala145Thr|454/2215|433/1917|145/638||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding|7/15|c.436G>A|p.Ala146Thr|754/2515|436/1920|146/639||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|7/13|c.1537G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|3/13|c.1537G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|5/13|c.1537G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|8/13|c.1537G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|6/13|c.1537G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|9/13|c.1537G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|4/13|c.1537G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|8/14|c.436G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|4/14|c.436G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|6/14|c.436G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|9/14|c.436G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|7/14|c.436G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|10/14|c.436G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|5/14|c.436G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|7/13|c.433G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|3/13|c.433G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|5/13|c.433G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|8/13|c.433G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|6/13|c.433G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|9/13|c.433G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|4/13|c.433G>A||||||,A|upstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding||c.-310G>A|||||797|,A|upstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding||c.-281G>A|||||826|,A|upstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding||c.-419G>A|||||839|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000463528|processed_transcript||n.*526G>A|||||2082|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412985|protein_coding||c.*805G>A|||||1590|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron|3/8|n.610G>A|||||| 22 31522981 . C T . . ANN=T|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding|5/13|c.1569C>T|p.Asp523Asp|1618/3347|1569/3021|523/1006||,T|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding|6/14|c.1368C>T|p.Asp456Asp|1740/3212|1368/2820|456/939||,T|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000420017|protein_coding|4/4|c.264C>T|p.Asp88Asp|516/558|264/306|88/101||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding|6/14|c.468C>T|p.Asp156Asp|664/2393|468/1920|156/639||,T|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding|5/13|c.465C>T|p.Asp155Asp|486/2215|465/1917|155/638||,T|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding|7/15|c.468C>T|p.Asp156Asp|786/2515|468/1920|156/639||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|7/13|c.1569C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|3/13|c.1569C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|5/13|c.1569C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|8/13|c.1569C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|6/13|c.1569C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|9/13|c.1569C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|4/13|c.1569C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|8/14|c.468C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|4/14|c.468C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|6/14|c.468C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|9/14|c.468C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|7/14|c.468C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|10/14|c.468C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|5/14|c.468C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|7/13|c.465C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|3/13|c.465C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|5/13|c.465C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|8/13|c.465C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|6/13|c.465C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|9/13|c.465C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|4/13|c.465C>T||||||,T|upstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding||c.-310C>T|||||765|,T|upstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding||c.-281C>T|||||794|,T|upstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding||c.-419C>T|||||807|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000463528|processed_transcript||n.*526C>T|||||2114|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412985|protein_coding||c.*805C>T|||||1622|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron|3/8|n.642C>T|||||| 22 31522999 . G A . . ANN=A|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding|5/13|c.1587G>A|p.Thr529Thr|1636/3347|1587/3021|529/1006||,A|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding|6/14|c.1386G>A|p.Thr462Thr|1758/3212|1386/2820|462/939||,A|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000420017|protein_coding|4/4|c.282G>A|p.Thr94Thr|534/558|282/306|94/101||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding|6/14|c.486G>A|p.Thr162Thr|682/2393|486/1920|162/639||,A|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding|5/13|c.483G>A|p.Thr161Thr|504/2215|483/1917|161/638||,A|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding|7/15|c.486G>A|p.Thr162Thr|804/2515|486/1920|162/639||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|7/13|c.1587G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|3/13|c.1587G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|5/13|c.1587G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|8/13|c.1587G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|6/13|c.1587G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|9/13|c.1587G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|4/13|c.1587G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|8/14|c.486G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|4/14|c.486G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|6/14|c.486G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|9/14|c.486G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|7/14|c.486G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|10/14|c.486G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|5/14|c.486G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|7/13|c.483G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|3/13|c.483G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|5/13|c.483G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|8/13|c.483G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|6/13|c.483G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|9/13|c.483G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|4/13|c.483G>A||||||,A|upstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding||c.-310G>A|||||747|,A|upstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding||c.-281G>A|||||776|,A|upstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding||c.-419G>A|||||789|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000463528|processed_transcript||n.*526G>A|||||2132|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412985|protein_coding||c.*805G>A|||||1640|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron|3/8|n.660G>A|||||| 22 31523492 . G A . . ANN=A|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding|6/13|c.1761G>A|p.Pro587Pro|1810/3347|1761/3021|587/1006||,A|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding|7/14|c.1560G>A|p.Pro520Pro|1932/3212|1560/2820|520/939||,A|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding|7/14|c.660G>A|p.Pro220Pro|856/2393|660/1920|220/639||,A|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding|6/13|c.657G>A|p.Pro219Pro|678/2215|657/1917|219/638||,A|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding|8/15|c.660G>A|p.Pro220Pro|978/2515|660/1920|220/639||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|7/13|c.1761G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|3/13|c.1761G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|5/13|c.1761G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|8/13|c.1761G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|6/13|c.1761G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|9/13|c.1761G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|4/13|c.1761G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|8/14|c.660G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|4/14|c.660G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|6/14|c.660G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|9/14|c.660G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|7/14|c.660G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|10/14|c.660G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|5/14|c.660G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|7/13|c.657G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|3/13|c.657G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|5/13|c.657G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|8/13|c.657G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|6/13|c.657G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|9/13|c.657G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|4/13|c.657G>A||||||,A|upstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding||c.-310G>A|||||254|,A|upstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding||c.-281G>A|||||283|,A|upstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding||c.-419G>A|||||296|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000463528|processed_transcript||n.*526G>A|||||2625|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412985|protein_coding||c.*805G>A|||||2133|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000420017|protein_coding||c.*558G>A|||||469|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron|3/8|n.1153G>A|||||| 22 31523495 . C T . . ANN=T|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding|6/13|c.1764C>T|p.Gly588Gly|1813/3347|1764/3021|588/1006||,T|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding|7/14|c.1563C>T|p.Gly521Gly|1935/3212|1563/2820|521/939||,T|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding|7/14|c.663C>T|p.Gly221Gly|859/2393|663/1920|221/639||,T|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding|6/13|c.660C>T|p.Gly220Gly|681/2215|660/1917|220/638||,T|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding|8/15|c.663C>T|p.Gly221Gly|981/2515|663/1920|221/639||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|7/13|c.1764C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|3/13|c.1764C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|5/13|c.1764C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|8/13|c.1764C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|6/13|c.1764C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|9/13|c.1764C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|4/13|c.1764C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|8/14|c.663C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|4/14|c.663C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|6/14|c.663C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|9/14|c.663C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|7/14|c.663C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|10/14|c.663C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|5/14|c.663C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|7/13|c.660C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|3/13|c.660C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|5/13|c.660C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|8/13|c.660C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|6/13|c.660C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|9/13|c.660C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|4/13|c.660C>T||||||,T|upstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding||c.-310C>T|||||251|,T|upstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding||c.-281C>T|||||280|,T|upstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding||c.-419C>T|||||293|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000463528|processed_transcript||n.*526C>T|||||2628|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412985|protein_coding||c.*805C>T|||||2136|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000420017|protein_coding||c.*558C>T|||||472|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron|3/8|n.1156C>T|||||| 22 31523541 . A T . . ANN=T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|7/13|c.1787+23A>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|3/13|c.1787+23A>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|5/13|c.1787+23A>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|8/13|c.1787+23A>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|6/13|c.1787+23A>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|9/13|c.1787+23A>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|4/13|c.1787+23A>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|8/14|c.686+23A>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|4/14|c.686+23A>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|6/14|c.686+23A>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|9/14|c.686+23A>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|7/14|c.686+23A>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|10/14|c.686+23A>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|5/14|c.686+23A>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|7/13|c.683+23A>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|3/13|c.683+23A>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|5/13|c.683+23A>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|8/13|c.683+23A>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|6/13|c.683+23A>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|9/13|c.683+23A>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|4/13|c.683+23A>T||||||,T|upstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding||c.-310A>T|||||205|,T|upstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding||c.-281A>T|||||234|,T|upstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding||c.-419A>T|||||247|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000463528|processed_transcript||n.*526A>T|||||2674|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412985|protein_coding||c.*805A>T|||||2182|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000420017|protein_coding||c.*558A>T|||||518|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding|6/12|c.1787+23A>T||||||,T|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding|7/13|c.1586+23A>T||||||,T|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron|3/7|n.1179+23A>T||||||,T|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding|7/13|c.686+23A>T||||||,T|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding|6/12|c.683+23A>T||||||,T|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding|8/14|c.686+23A>T|||||| 22 31523892 . C A . . ANN=A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|7/13|c.1788-45C>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|3/13|c.1788-45C>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|5/13|c.1788-45C>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|8/13|c.1788-45C>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|6/13|c.1788-45C>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|9/13|c.1788-45C>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|4/13|c.1788-45C>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|8/14|c.687-45C>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|4/14|c.687-45C>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|6/14|c.687-45C>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|9/14|c.687-45C>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|7/14|c.687-45C>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|10/14|c.687-45C>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|5/14|c.687-45C>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|7/13|c.684-45C>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|3/13|c.684-45C>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|5/13|c.684-45C>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|8/13|c.684-45C>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|6/13|c.684-45C>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|9/13|c.684-45C>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|4/13|c.684-45C>A||||||,A|5_prime_UTR_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding|1/6|c.-163C>A|||||314|,A|5_prime_UTR_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding|1/7|c.-163C>A|||||314|,A|5_prime_UTR_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding|1/6|c.-314C>A|||||314|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000463528|processed_transcript||n.*526C>A|||||3025|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412985|protein_coding||c.*805C>A|||||2533|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000420017|protein_coding||c.*558C>A|||||869|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding|6/12|c.1788-45C>A||||||,A|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding|7/13|c.1587-45C>A||||||,A|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron|3/7|n.1180-45C>A||||||,A|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding|7/13|c.687-45C>A||||||,A|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding|6/12|c.684-45C>A||||||,A|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding|8/14|c.687-45C>A|||||| 22 31523973 . T C . . ANN=C|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding|7/13|c.1824T>C|p.Ile608Ile|1873/3347|1824/3021|608/1006||,C|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding|8/14|c.1623T>C|p.Ile541Ile|1995/3212|1623/2820|541/939||,C|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding|8/14|c.723T>C|p.Ile241Ile|919/2393|723/1920|241/639||,C|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding|7/13|c.720T>C|p.Ile240Ile|741/2215|720/1917|240/638||,C|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding|9/15|c.723T>C|p.Ile241Ile|1041/2515|723/1920|241/639||,C|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|7/13|c.1824T>C||||||,C|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|3/13|c.1824T>C||||||,C|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|5/13|c.1824T>C||||||,C|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|8/13|c.1824T>C||||||,C|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|6/13|c.1824T>C||||||,C|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|9/13|c.1824T>C||||||,C|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|4/13|c.1824T>C||||||,C|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|8/14|c.723T>C||||||,C|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|4/14|c.723T>C||||||,C|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|6/14|c.723T>C||||||,C|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|9/14|c.723T>C||||||,C|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|7/14|c.723T>C||||||,C|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|10/14|c.723T>C||||||,C|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|5/14|c.723T>C||||||,C|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|7/13|c.720T>C||||||,C|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|3/13|c.720T>C||||||,C|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|5/13|c.720T>C||||||,C|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|8/13|c.720T>C||||||,C|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|6/13|c.720T>C||||||,C|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|9/13|c.720T>C||||||,C|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|4/13|c.720T>C||||||,C|5_prime_UTR_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding|1/6|c.-82T>C|||||233|,C|5_prime_UTR_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding|1/7|c.-82T>C|||||233|,C|5_prime_UTR_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding|1/6|c.-233T>C|||||233|,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000463528|processed_transcript||n.*526T>C|||||3106|,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412985|protein_coding||c.*805T>C|||||2614|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000420017|protein_coding||c.*558T>C|||||950|WARNING_TRANSCRIPT_NO_STOP_CODON,C|non_coding_exon_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron|4/8|n.1216T>C|||||| 22 31524086 . C T . . ANN=T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|7/13|c.1899+38C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|3/13|c.1899+38C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|5/13|c.1899+38C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|8/13|c.1899+38C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|6/13|c.1899+38C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|9/13|c.1899+38C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|4/13|c.1899+38C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|8/14|c.798+38C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|4/14|c.798+38C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|6/14|c.798+38C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|9/14|c.798+38C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|7/14|c.798+38C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|10/14|c.798+38C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|5/14|c.798+38C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|7/13|c.795+38C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|3/13|c.795+38C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|5/13|c.795+38C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|8/13|c.795+38C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|6/13|c.795+38C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|9/13|c.795+38C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|4/13|c.795+38C>T||||||,T|5_prime_UTR_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding|1/6|c.-120C>T|||||120|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000463528|processed_transcript||n.*526C>T|||||3219|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412985|protein_coding||c.*805C>T|||||2727|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000420017|protein_coding||c.*558C>T|||||1063|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding|7/12|c.1899+38C>T||||||,T|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding|8/13|c.1698+38C>T||||||,T|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron|4/7|n.1291+38C>T||||||,T|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding|8/13|c.798+38C>T||||||,T|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding|7/12|c.795+38C>T||||||,T|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding|9/14|c.798+38C>T||||||,T|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding|1/5|c.-7+38C>T||||||,T|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding|1/6|c.-7+38C>T|||||| 22 31524151 . C T . . ANN=T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|7/13|c.1900-49C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|3/13|c.1900-49C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|5/13|c.1900-49C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|8/13|c.1900-49C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|6/13|c.1900-49C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|9/13|c.1900-49C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|4/13|c.1900-49C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|8/14|c.799-49C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|4/14|c.799-49C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|6/14|c.799-49C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|9/14|c.799-49C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|7/14|c.799-49C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|10/14|c.799-49C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|5/14|c.799-49C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|7/13|c.796-49C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|3/13|c.796-49C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|5/13|c.796-49C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|8/13|c.796-49C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|6/13|c.796-49C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|9/13|c.796-49C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|4/13|c.796-49C>T||||||,T|5_prime_UTR_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding|1/6|c.-55C>T|||||55|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000463528|processed_transcript||n.*526C>T|||||3284|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412985|protein_coding||c.*805C>T|||||2792|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000420017|protein_coding||c.*558C>T|||||1128|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding|7/12|c.1900-49C>T||||||,T|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding|8/13|c.1699-49C>T||||||,T|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron|4/7|n.1292-49C>T||||||,T|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding|8/13|c.799-49C>T||||||,T|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding|7/12|c.796-49C>T||||||,T|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding|9/14|c.799-49C>T||||||,T|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding|1/5|c.-6-49C>T||||||,T|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding|1/6|c.-6-49C>T|||||| 22 31524175 . A G . . ANN=G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|7/13|c.1900-25A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|3/13|c.1900-25A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|5/13|c.1900-25A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|8/13|c.1900-25A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|6/13|c.1900-25A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|9/13|c.1900-25A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|4/13|c.1900-25A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|8/14|c.799-25A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|4/14|c.799-25A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|6/14|c.799-25A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|9/14|c.799-25A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|7/14|c.799-25A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|10/14|c.799-25A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|5/14|c.799-25A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|7/13|c.796-25A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|3/13|c.796-25A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|5/13|c.796-25A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|8/13|c.796-25A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|6/13|c.796-25A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|9/13|c.796-25A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|4/13|c.796-25A>G||||||,G|5_prime_UTR_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding|1/6|c.-31A>G|||||31|,G|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000463528|processed_transcript||n.*526A>G|||||3308|,G|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412985|protein_coding||c.*805A>G|||||2816|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000420017|protein_coding||c.*558A>G|||||1152|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding|7/12|c.1900-25A>G||||||,G|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding|8/13|c.1699-25A>G||||||,G|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron|4/7|n.1292-25A>G||||||,G|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding|8/13|c.799-25A>G||||||,G|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding|7/12|c.796-25A>G||||||,G|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding|9/14|c.799-25A>G||||||,G|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding|1/5|c.-6-25A>G||||||,G|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding|1/6|c.-6-25A>G|||||| 22 31524249 . G A . . ANN=A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding|8/13|c.1949G>A|p.Gly650Glu|1998/3347|1949/3021|650/1006||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding|9/14|c.1748G>A|p.Gly583Glu|2120/3212|1748/2820|583/939||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding|9/14|c.848G>A|p.Gly283Glu|1044/2393|848/1920|283/639||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding|8/13|c.845G>A|p.Gly282Glu|866/2215|845/1917|282/638||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding|10/15|c.848G>A|p.Gly283Glu|1166/2515|848/1920|283/639||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding|2/6|c.44G>A|p.Gly15Glu|353/1564|44/1038|15/345||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding|2/7|c.44G>A|p.Gly15Glu|324/1613|44/1116|15/371||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding|1/6|c.44G>A|p.Gly15Glu|462/1751|44/1116|15/371||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|7/13|c.1949G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|3/13|c.1949G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|5/13|c.1949G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|8/13|c.1949G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|6/13|c.1949G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|9/13|c.1949G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|4/13|c.1949G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|8/14|c.848G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|4/14|c.848G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|6/14|c.848G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|9/14|c.848G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|7/14|c.848G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|10/14|c.848G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|5/14|c.848G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|7/13|c.845G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|3/13|c.845G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|5/13|c.845G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|8/13|c.845G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|6/13|c.845G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|9/13|c.845G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|4/13|c.845G>A||||||,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000463528|processed_transcript||n.*526G>A|||||3382|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412985|protein_coding||c.*805G>A|||||2890|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000420017|protein_coding||c.*558G>A|||||1226|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron|5/8|n.1341G>A|||||| 22 31529043 . C A . . ANN=A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000331075|protein_coding|10/13|c.2194-41C>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000331075|protein_coding|11/13|c.2194-41C>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000331075|protein_coding|13/13|c.2194-41C>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000331075|protein_coding|9/13|c.2194-41C>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000331075|protein_coding|12/13|c.2194-41C>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000400294|protein_coding|11/14|c.1093-41C>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000400294|protein_coding|12/14|c.1093-41C>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000400294|protein_coding|14/14|c.1093-41C>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000400294|protein_coding|10/14|c.1093-41C>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000400294|protein_coding|13/14|c.1093-41C>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000404390|protein_coding|10/13|c.1090-41C>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000404390|protein_coding|11/13|c.1090-41C>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000404390|protein_coding|13/13|c.1090-41C>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000404390|protein_coding|9/13|c.1090-41C>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000404390|protein_coding|12/13|c.1090-41C>A||||||,A|downstream_gene_variant|MODIFIER|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding||c.*1783G>T|||||1752|,A|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding|9/12|c.2194-41C>A||||||,A|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding|10/13|c.1993-41C>A||||||,A|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron|6/7|n.1586-41C>A||||||,A|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding|10/13|c.1093-41C>A||||||,A|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding|9/12|c.1090-41C>A||||||,A|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding|11/14|c.1093-41C>A||||||,A|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding|3/5|c.289-41C>A||||||,A|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding|3/6|c.289-41C>A||||||,A|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding|2/5|c.289-41C>A|||||| 22 31529142 . G A . . ANN=A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding|10/13|c.2252G>A|p.Arg751Gln|2301/3347|2252/3021|751/1006||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding|11/14|c.2051G>A|p.Arg684Gln|2423/3212|2051/2820|684/939||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding|11/14|c.1151G>A|p.Arg384Gln|1347/2393|1151/1920|384/639||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding|10/13|c.1148G>A|p.Arg383Gln|1169/2215|1148/1917|383/638||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding|12/15|c.1151G>A|p.Arg384Gln|1469/2515|1151/1920|384/639||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding|4/6|c.347G>A|p.Arg116Gln|656/1564|347/1038|116/345||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding|4/7|c.347G>A|p.Arg116Gln|627/1613|347/1116|116/371||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding|3/6|c.347G>A|p.Arg116Gln|765/1751|347/1116|116/371||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000331075|protein_coding|10/13|c.2252G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000331075|protein_coding|11/13|c.2252G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000331075|protein_coding|13/13|c.2252G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000331075|protein_coding|9/13|c.2252G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000331075|protein_coding|12/13|c.2252G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000400294|protein_coding|11/14|c.1151G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000400294|protein_coding|12/14|c.1151G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000400294|protein_coding|14/14|c.1151G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000400294|protein_coding|10/14|c.1151G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000400294|protein_coding|13/14|c.1151G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000404390|protein_coding|10/13|c.1148G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000404390|protein_coding|11/13|c.1148G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000404390|protein_coding|13/13|c.1148G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000404390|protein_coding|9/13|c.1148G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000404390|protein_coding|12/13|c.1148G>A||||||,A|downstream_gene_variant|MODIFIER|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding||c.*1783C>T|||||1653|,A|non_coding_exon_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron|7/8|n.1644G>A|||||| 22 31529185 . C T . . ANN=T|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding|10/13|c.2295C>T|p.Phe765Phe|2344/3347|2295/3021|765/1006||,T|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding|11/14|c.2094C>T|p.Phe698Phe|2466/3212|2094/2820|698/939||,T|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding|11/14|c.1194C>T|p.Phe398Phe|1390/2393|1194/1920|398/639||,T|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding|10/13|c.1191C>T|p.Phe397Phe|1212/2215|1191/1917|397/638||,T|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding|12/15|c.1194C>T|p.Phe398Phe|1512/2515|1194/1920|398/639||,T|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding|4/6|c.390C>T|p.Phe130Phe|699/1564|390/1038|130/345||,T|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding|4/7|c.390C>T|p.Phe130Phe|670/1613|390/1116|130/371||,T|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding|3/6|c.390C>T|p.Phe130Phe|808/1751|390/1116|130/371||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000331075|protein_coding|10/13|c.2295C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000331075|protein_coding|11/13|c.2295C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000331075|protein_coding|13/13|c.2295C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000331075|protein_coding|9/13|c.2295C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000331075|protein_coding|12/13|c.2295C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000400294|protein_coding|11/14|c.1194C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000400294|protein_coding|12/14|c.1194C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000400294|protein_coding|14/14|c.1194C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000400294|protein_coding|10/14|c.1194C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000400294|protein_coding|13/14|c.1194C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000404390|protein_coding|10/13|c.1191C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000404390|protein_coding|11/13|c.1191C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000404390|protein_coding|13/13|c.1191C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000404390|protein_coding|9/13|c.1191C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000404390|protein_coding|12/13|c.1191C>T||||||,T|downstream_gene_variant|MODIFIER|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding||c.*1783G>A|||||1610|,T|non_coding_exon_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron|7/8|n.1687C>T|||||| 22 31529353 . T C . . ANN=C|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000331075|protein_coding|10/13|c.2332-39T>C||||||,C|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000331075|protein_coding|11/13|c.2332-39T>C||||||,C|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000331075|protein_coding|13/13|c.2332-39T>C||||||,C|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000331075|protein_coding|9/13|c.2332-39T>C||||||,C|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000331075|protein_coding|12/13|c.2332-39T>C||||||,C|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000400294|protein_coding|11/14|c.1231-39T>C||||||,C|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000400294|protein_coding|12/14|c.1231-39T>C||||||,C|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000400294|protein_coding|14/14|c.1231-39T>C||||||,C|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000400294|protein_coding|10/14|c.1231-39T>C||||||,C|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000400294|protein_coding|13/14|c.1231-39T>C||||||,C|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000404390|protein_coding|10/13|c.1228-39T>C||||||,C|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000404390|protein_coding|11/13|c.1228-39T>C||||||,C|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000404390|protein_coding|13/13|c.1228-39T>C||||||,C|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000404390|protein_coding|9/13|c.1228-39T>C||||||,C|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000404390|protein_coding|12/13|c.1228-39T>C||||||,C|downstream_gene_variant|MODIFIER|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding||c.*1783A>G|||||1442|,C|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding|10/12|c.2332-39T>C||||||,C|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding|11/13|c.2131-39T>C||||||,C|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron|7/7|n.1723+132T>C||||||,C|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding|11/13|c.1231-39T>C||||||,C|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding|10/12|c.1228-39T>C||||||,C|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding|12/14|c.1231-39T>C||||||,C|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding|4/5|c.426+132T>C||||||,C|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding|4/6|c.427-39T>C||||||,C|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding|3/5|c.427-39T>C|||||| 22 31529463 . C A . . ANN=A|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding|11/13|c.2403C>A|p.Thr801Thr|2452/3347|2403/3021|801/1006||,A|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding|12/14|c.2202C>A|p.Thr734Thr|2574/3212|2202/2820|734/939||,A|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding|12/14|c.1302C>A|p.Thr434Thr|1498/2393|1302/1920|434/639||,A|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding|11/13|c.1299C>A|p.Thr433Thr|1320/2215|1299/1917|433/638||,A|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding|13/15|c.1302C>A|p.Thr434Thr|1620/2515|1302/1920|434/639||,A|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding|5/7|c.498C>A|p.Thr166Thr|778/1613|498/1116|166/371||,A|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding|4/6|c.498C>A|p.Thr166Thr|916/1751|498/1116|166/371||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000331075|protein_coding|10/13|c.2403C>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000331075|protein_coding|11/13|c.2403C>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000331075|protein_coding|13/13|c.2403C>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000331075|protein_coding|9/13|c.2403C>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000331075|protein_coding|12/13|c.2403C>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000400294|protein_coding|11/14|c.1302C>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000400294|protein_coding|12/14|c.1302C>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000400294|protein_coding|14/14|c.1302C>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000400294|protein_coding|10/14|c.1302C>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000400294|protein_coding|13/14|c.1302C>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000404390|protein_coding|10/13|c.1299C>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000404390|protein_coding|11/13|c.1299C>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000404390|protein_coding|13/13|c.1299C>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000404390|protein_coding|9/13|c.1299C>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000404390|protein_coding|12/13|c.1299C>A||||||,A|downstream_gene_variant|MODIFIER|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding||c.*1783G>T|||||1332|,A|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron|7/7|n.1724-133C>A||||||,A|intron_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding|4/5|c.427-133C>A|||||| 22 31529679 . C T . . ANN=T|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding|12/13|c.2493C>T|p.Ile831Ile|2542/3347|2493/3021|831/1006||,T|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding|13/14|c.2292C>T|p.Ile764Ile|2664/3212|2292/2820|764/939||,T|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding|13/14|c.1392C>T|p.Ile464Ile|1588/2393|1392/1920|464/639||,T|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding|12/13|c.1389C>T|p.Ile463Ile|1410/2215|1389/1917|463/638||,T|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding|14/15|c.1392C>T|p.Ile464Ile|1710/2515|1392/1920|464/639||,T|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding|5/6|c.510C>T|p.Ile170Ile|819/1564|510/1038|170/345||,T|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding|6/7|c.588C>T|p.Ile196Ile|868/1613|588/1116|196/371||,T|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding|5/6|c.588C>T|p.Ile196Ile|1006/1751|588/1116|196/371||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000331075|protein_coding|10/13|c.2493C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000331075|protein_coding|11/13|c.2493C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000331075|protein_coding|13/13|c.2493C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000331075|protein_coding|9/13|c.2493C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000331075|protein_coding|12/13|c.2493C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000400294|protein_coding|11/14|c.1392C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000400294|protein_coding|12/14|c.1392C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000400294|protein_coding|14/14|c.1392C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000400294|protein_coding|10/14|c.1392C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000400294|protein_coding|13/14|c.1392C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000404390|protein_coding|10/13|c.1389C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000404390|protein_coding|11/13|c.1389C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000404390|protein_coding|13/13|c.1389C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000404390|protein_coding|9/13|c.1389C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000404390|protein_coding|12/13|c.1389C>T||||||,T|downstream_gene_variant|MODIFIER|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding||c.*1783G>A|||||1116|,T|non_coding_exon_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron|8/8|n.1807C>T|||||| 22 31529903 . C T . . ANN=T|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding|13/13|c.2519C>T|p.Ser840Leu|2568/3347|2519/3021|840/1006||,T|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding|14/14|c.2318C>T|p.Ser773Leu|2690/3212|2318/2820|773/939||,T|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding|14/14|c.1418C>T|p.Ser473Leu|1614/2393|1418/1920|473/639||,T|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding|13/13|c.1415C>T|p.Ser472Leu|1436/2215|1415/1917|472/638||,T|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding|15/15|c.1418C>T|p.Ser473Leu|1736/2515|1418/1920|473/639||,T|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding|6/6|c.536C>T|p.Ser179Leu|845/1564|536/1038|179/345||,T|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding|7/7|c.614C>T|p.Ser205Leu|894/1613|614/1116|205/371||,T|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding|6/6|c.614C>T|p.Ser205Leu|1032/1751|614/1116|205/371||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000331075|protein_coding|10/13|c.2519C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000331075|protein_coding|11/13|c.2519C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000331075|protein_coding|13/13|c.2519C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000331075|protein_coding|9/13|c.2519C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000331075|protein_coding|12/13|c.2519C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|compositionally_biased_region:Ser-rich|ENST00000331075|protein_coding|13/13|c.2519C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000400294|protein_coding|11/14|c.1418C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000400294|protein_coding|12/14|c.1418C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000400294|protein_coding|14/14|c.1418C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000400294|protein_coding|10/14|c.1418C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000400294|protein_coding|13/14|c.1418C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|compositionally_biased_region:Ser-rich|ENST00000400294|protein_coding|14/14|c.1418C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000404390|protein_coding|10/13|c.1415C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000404390|protein_coding|11/13|c.1415C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000404390|protein_coding|13/13|c.1415C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000404390|protein_coding|9/13|c.1415C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000404390|protein_coding|12/13|c.1415C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|compositionally_biased_region:Ser-rich|ENST00000404390|protein_coding|13/13|c.1415C>T||||||,T|downstream_gene_variant|MODIFIER|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding||c.*1783G>A|||||892|,T|non_coding_exon_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron|8/8|n.2031C>T|||||| 22 31529904 . G A . . ANN=A|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding|13/13|c.2520G>A|p.Ser840Ser|2569/3347|2520/3021|840/1006||,A|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding|14/14|c.2319G>A|p.Ser773Ser|2691/3212|2319/2820|773/939||,A|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding|14/14|c.1419G>A|p.Ser473Ser|1615/2393|1419/1920|473/639||,A|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding|13/13|c.1416G>A|p.Ser472Ser|1437/2215|1416/1917|472/638||,A|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding|15/15|c.1419G>A|p.Ser473Ser|1737/2515|1419/1920|473/639||,A|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding|6/6|c.537G>A|p.Ser179Ser|846/1564|537/1038|179/345||,A|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding|7/7|c.615G>A|p.Ser205Ser|895/1613|615/1116|205/371||,A|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding|6/6|c.615G>A|p.Ser205Ser|1033/1751|615/1116|205/371||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000331075|protein_coding|10/13|c.2520G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000331075|protein_coding|11/13|c.2520G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000331075|protein_coding|13/13|c.2520G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000331075|protein_coding|9/13|c.2520G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000331075|protein_coding|12/13|c.2520G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|compositionally_biased_region:Ser-rich|ENST00000331075|protein_coding|13/13|c.2520G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000400294|protein_coding|11/14|c.1419G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000400294|protein_coding|12/14|c.1419G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000400294|protein_coding|14/14|c.1419G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000400294|protein_coding|10/14|c.1419G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000400294|protein_coding|13/14|c.1419G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|compositionally_biased_region:Ser-rich|ENST00000400294|protein_coding|14/14|c.1419G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000404390|protein_coding|10/13|c.1416G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000404390|protein_coding|11/13|c.1416G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000404390|protein_coding|13/13|c.1416G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000404390|protein_coding|9/13|c.1416G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000404390|protein_coding|12/13|c.1416G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|compositionally_biased_region:Ser-rich|ENST00000404390|protein_coding|13/13|c.1416G>A||||||,A|downstream_gene_variant|MODIFIER|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding||c.*1783C>T|||||891|,A|non_coding_exon_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron|8/8|n.2032G>A|||||| 22 31529916 . G A . . ANN=A|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding|13/13|c.2532G>A|p.Ser844Ser|2581/3347|2532/3021|844/1006||,A|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding|14/14|c.2331G>A|p.Ser777Ser|2703/3212|2331/2820|777/939||,A|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding|14/14|c.1431G>A|p.Ser477Ser|1627/2393|1431/1920|477/639||,A|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding|13/13|c.1428G>A|p.Ser476Ser|1449/2215|1428/1917|476/638||,A|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding|15/15|c.1431G>A|p.Ser477Ser|1749/2515|1431/1920|477/639||,A|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding|6/6|c.549G>A|p.Ser183Ser|858/1564|549/1038|183/345||,A|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding|7/7|c.627G>A|p.Ser209Ser|907/1613|627/1116|209/371||,A|synonymous_variant|LOW|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding|6/6|c.627G>A|p.Ser209Ser|1045/1751|627/1116|209/371||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|compositionally_biased_region:Ser-rich|ENST00000331075|protein_coding|13/13|c.2532G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|compositionally_biased_region:Ser-rich|ENST00000400294|protein_coding|14/14|c.1431G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|compositionally_biased_region:Ser-rich|ENST00000404390|protein_coding|13/13|c.1428G>A||||||,A|downstream_gene_variant|MODIFIER|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding||c.*1783C>T|||||879|,A|non_coding_exon_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron|8/8|n.2044G>A|||||| 22 31530073 . C T . . ANN=T|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding|13/13|c.2689C>T|p.Leu897Phe|2738/3347|2689/3021|897/1006||,T|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding|14/14|c.2488C>T|p.Leu830Phe|2860/3212|2488/2820|830/939||,T|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding|14/14|c.1588C>T|p.Leu530Phe|1784/2393|1588/1920|530/639||,T|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding|13/13|c.1585C>T|p.Leu529Phe|1606/2215|1585/1917|529/638||,T|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding|15/15|c.1588C>T|p.Leu530Phe|1906/2515|1588/1920|530/639||,T|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding|6/6|c.706C>T|p.Leu236Phe|1015/1564|706/1038|236/345||,T|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding|7/7|c.784C>T|p.Leu262Phe|1064/1613|784/1116|262/371||,T|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding|6/6|c.784C>T|p.Leu262Phe|1202/1751|784/1116|262/371||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|compositionally_biased_region:Ser-rich|ENST00000331075|protein_coding|13/13|c.2689C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|compositionally_biased_region:Ser-rich|ENST00000400294|protein_coding|14/14|c.1588C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|compositionally_biased_region:Ser-rich|ENST00000404390|protein_coding|13/13|c.1585C>T||||||,T|downstream_gene_variant|MODIFIER|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding||c.*1783G>A|||||722|,T|non_coding_exon_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron|8/8|n.2201C>T|||||| 22 31530271 . G A . . ANN=A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding|13/13|c.2887G>A|p.Ala963Thr|2936/3347|2887/3021|963/1006||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding|14/14|c.2686G>A|p.Ala896Thr|3058/3212|2686/2820|896/939||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding|14/14|c.1786G>A|p.Ala596Thr|1982/2393|1786/1920|596/639||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding|13/13|c.1783G>A|p.Ala595Thr|1804/2215|1783/1917|595/638||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding|15/15|c.1786G>A|p.Ala596Thr|2104/2515|1786/1920|596/639||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding|6/6|c.904G>A|p.Ala302Thr|1213/1564|904/1038|302/345||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding|7/7|c.982G>A|p.Ala328Thr|1262/1613|982/1116|328/371||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding|6/6|c.982G>A|p.Ala328Thr|1400/1751|982/1116|328/371||,A|downstream_gene_variant|MODIFIER|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding||c.*1783C>T|||||524|,A|non_coding_exon_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron|8/8|n.2399G>A|||||| 22 31530308 . G A . . ANN=A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding|13/13|c.2924G>A|p.Gly975Asp|2973/3347|2924/3021|975/1006||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding|14/14|c.2723G>A|p.Gly908Asp|3095/3212|2723/2820|908/939||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding|14/14|c.1823G>A|p.Gly608Asp|2019/2393|1823/1920|608/639||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding|13/13|c.1820G>A|p.Gly607Asp|1841/2215|1820/1917|607/638||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding|15/15|c.1823G>A|p.Gly608Asp|2141/2515|1823/1920|608/639||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding|6/6|c.941G>A|p.Gly314Asp|1250/1564|941/1038|314/345||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding|7/7|c.1019G>A|p.Gly340Asp|1299/1613|1019/1116|340/371||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding|6/6|c.1019G>A|p.Gly340Asp|1437/1751|1019/1116|340/371||,A|downstream_gene_variant|MODIFIER|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding||c.*1783C>T|||||487|,A|non_coding_exon_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron|8/8|n.2436G>A|||||| 22 31530344 . A C . . ANN=C|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding|13/13|c.2960A>C|p.Asn987Thr|3009/3347|2960/3021|987/1006||,C|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding|14/14|c.2759A>C|p.Asn920Thr|3131/3212|2759/2820|920/939||,C|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding|14/14|c.1859A>C|p.Asn620Thr|2055/2393|1859/1920|620/639||,C|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding|13/13|c.1856A>C|p.Asn619Thr|1877/2215|1856/1917|619/638||,C|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding|15/15|c.1859A>C|p.Asn620Thr|2177/2515|1859/1920|620/639||,C|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding|6/6|c.977A>C|p.Asn326Thr|1286/1564|977/1038|326/345||,C|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding|7/7|c.1055A>C|p.Asn352Thr|1335/1613|1055/1116|352/371||,C|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding|6/6|c.1055A>C|p.Asn352Thr|1473/1751|1055/1116|352/371||,C|downstream_gene_variant|MODIFIER|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding||c.*1783T>G|||||451|,C|non_coding_exon_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron|8/8|n.2472A>C|||||| 22 31531662 . GCCATGGGCAAGGT G . . ANN=|3_prime_UTR_variant|MODIFIER|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|7/7|c.*34_*46delACCTTGCCCATGG|||||34|,|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding||c.*3070_*3070delCCATGGGCAAGGT|||||981|,|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding||c.*3192_*3192delCCATGGGCAAGGT|||||1238|,|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron||n.*2810_*2810delCCATGGGCAAGGT|||||981|,|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding||c.*2116_*2116delCCATGGGCAAGGT|||||981|,|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding||c.*1938_*1938delCCATGGGCAAGGT|||||981|,|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding||c.*2238_*2238delCCATGGGCAAGGT|||||981|,|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding||c.*1347_*1347delCCATGGGCAAGGT|||||1041|,|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding||c.*1396_*1396delCCATGGGCAAGGT|||||1041|,|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding||c.*1534_*1534delCCATGGGCAAGGT|||||1041| 22 31531788 . A C . . ANN=C|missense_variant|MODERATE|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|7/7|c.1451T>G|p.Met484Arg|1704/2697|1451/1530|484/509||,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding||c.*3070A>C|||||1106|,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding||c.*3192A>C|||||1363|,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron||n.*2810A>C|||||1106|,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding||c.*2116A>C|||||1106|,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding||c.*1938A>C|||||1106|,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding||c.*2238A>C|||||1106|,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding||c.*1347A>C|||||1166|,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding||c.*1396A>C|||||1166|,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding||c.*1534A>C|||||1166| 22 31531849 . G A . . ANN=A|missense_variant|MODERATE|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|7/7|c.1390C>T|p.Leu464Phe|1643/2697|1390/1530|464/509||,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding||c.*3070G>A|||||1167|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding||c.*3192G>A|||||1424|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron||n.*2810G>A|||||1167|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding||c.*2116G>A|||||1167|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding||c.*1938G>A|||||1167|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding||c.*2238G>A|||||1167|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding||c.*1347G>A|||||1227|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding||c.*1396G>A|||||1227|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding||c.*1534G>A|||||1227| 22 31531875 . C T . . ANN=T|missense_variant|MODERATE|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|7/7|c.1364G>A|p.Arg455Gln|1617/2697|1364/1530|455/509||,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding||c.*3070C>T|||||1193|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding||c.*3192C>T|||||1450|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron||n.*2810C>T|||||1193|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding||c.*2116C>T|||||1193|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding||c.*1938C>T|||||1193|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding||c.*2238C>T|||||1193|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding||c.*1347C>T|||||1253|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding||c.*1396C>T|||||1253|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding||c.*1534C>T|||||1253| 22 31532644 . C G . . ANN=G|sequence_feature|MODERATE|PLA2G3|ENSG00000100078|glycosylation_site:N-linked__GlcNAc..._|ENST00000215885|protein_coding|6/7|c.1316+25G>C||||||,G|sequence_feature|MODERATE|PLA2G3|ENSG00000100078|glycosylation_site:N-linked__GlcNAc..._|ENST00000215885|protein_coding|7/7|c.1316+25G>C||||||,G|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding||c.*3070C>G|||||1962|,G|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding||c.*3192C>G|||||2219|,G|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron||n.*2810C>G|||||1962|,G|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding||c.*2116C>G|||||1962|,G|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding||c.*1938C>G|||||1962|,G|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding||c.*2238C>G|||||1962|,G|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding||c.*1347C>G|||||2022|,G|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding||c.*1396C>G|||||2022|,G|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding||c.*1534C>G|||||2022|,G|intron_variant|MODIFIER|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|6/6|c.1316+25G>C|||||| 22 31532649 . C T . . ANN=T|sequence_feature|MODERATE|PLA2G3|ENSG00000100078|glycosylation_site:N-linked__GlcNAc..._|ENST00000215885|protein_coding|6/7|c.1316+20G>A||||||,T|sequence_feature|MODERATE|PLA2G3|ENSG00000100078|glycosylation_site:N-linked__GlcNAc..._|ENST00000215885|protein_coding|7/7|c.1316+20G>A||||||,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding||c.*3070C>T|||||1967|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding||c.*3192C>T|||||2224|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron||n.*2810C>T|||||1967|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding||c.*2116C>T|||||1967|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding||c.*1938C>T|||||1967|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding||c.*2238C>T|||||1967|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding||c.*1347C>T|||||2027|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding||c.*1396C>T|||||2027|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding||c.*1534C>T|||||2027|,T|intron_variant|MODIFIER|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|6/6|c.1316+20G>A|||||| 22 31532697 . G A . . ANN=A|missense_variant|MODERATE|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|6/7|c.1288C>T|p.Pro430Ser|1541/2697|1288/1530|430/509||,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding||c.*3070G>A|||||2015|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding||c.*3192G>A|||||2272|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron||n.*2810G>A|||||2015|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding||c.*2116G>A|||||2015|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding||c.*1938G>A|||||2015|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding||c.*2238G>A|||||2015|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding||c.*1347G>A|||||2075|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding||c.*1396G>A|||||2075|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding||c.*1534G>A|||||2075| 22 31532702 . A G . . ANN=G|missense_variant|MODERATE|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|6/7|c.1283T>C|p.Leu428Pro|1536/2697|1283/1530|428/509||,G|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding||c.*3070A>G|||||2020|,G|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding||c.*3192A>G|||||2277|,G|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron||n.*2810A>G|||||2020|,G|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding||c.*2116A>G|||||2020|,G|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding||c.*1938A>G|||||2020|,G|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding||c.*2238A>G|||||2020|,G|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding||c.*1347A>G|||||2080|,G|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding||c.*1396A>G|||||2080|,G|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding||c.*1534A>G|||||2080| 22 31532870 . C T . . ANN=T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding||c.*3070C>T|||||2188|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding||c.*3192C>T|||||2445|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron||n.*2810C>T|||||2188|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding||c.*2116C>T|||||2188|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding||c.*1938C>T|||||2188|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding||c.*2238C>T|||||2188|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding||c.*1347C>T|||||2248|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding||c.*1396C>T|||||2248|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding||c.*1534C>T|||||2248|,T|intron_variant|MODIFIER|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|5/6|c.1199+24G>A|||||| 22 31532873 . G A . . ANN=A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding||c.*3070G>A|||||2191|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding||c.*3192G>A|||||2448|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron||n.*2810G>A|||||2191|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding||c.*2116G>A|||||2191|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding||c.*1938G>A|||||2191|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding||c.*2238G>A|||||2191|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding||c.*1347G>A|||||2251|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding||c.*1396G>A|||||2251|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding||c.*1534G>A|||||2251|,A|intron_variant|MODIFIER|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|5/6|c.1199+21C>T|||||| 22 31532894 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|5/7|c.1199G>A|p.Arg400His|1452/2697|1199/1530|400/509||,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding||c.*3070C>T|||||2212|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding||c.*3192C>T|||||2469|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron||n.*2810C>T|||||2212|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding||c.*2116C>T|||||2212|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding||c.*1938C>T|||||2212|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding||c.*2238C>T|||||2212|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding||c.*1347C>T|||||2272|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding||c.*1396C>T|||||2272|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding||c.*1534C>T|||||2272| 22 31532899 . C T . . ANN=T|synonymous_variant|LOW|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|5/7|c.1194G>A|p.Thr398Thr|1447/2697|1194/1530|398/509||,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding||c.*3070C>T|||||2217|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding||c.*3192C>T|||||2474|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron||n.*2810C>T|||||2217|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding||c.*2116C>T|||||2217|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding||c.*1938C>T|||||2217|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding||c.*2238C>T|||||2217|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding||c.*1347C>T|||||2277|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding||c.*1396C>T|||||2277|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding||c.*1534C>T|||||2277| 22 31532960 . C T . . ANN=T|missense_variant|MODERATE|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|5/7|c.1133G>A|p.Arg378Gln|1386/2697|1133/1530|378/509||,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding||c.*3070C>T|||||2278|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding||c.*3192C>T|||||2535|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron||n.*2810C>T|||||2278|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding||c.*2116C>T|||||2278|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding||c.*1938C>T|||||2278|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding||c.*2238C>T|||||2278|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding||c.*1347C>T|||||2338|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding||c.*1396C>T|||||2338|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding||c.*1534C>T|||||2338| 22 31533709 . G A . . ANN=A|synonymous_variant|LOW|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|4/7|c.1053C>T|p.Gly351Gly|1306/2697|1053/1530|351/509||,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding||c.*3070G>A|||||3027|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding||c.*3192G>A|||||3284|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron||n.*2810G>A|||||3027|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding||c.*2116G>A|||||3027|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding||c.*1938G>A|||||3027|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding||c.*2238G>A|||||3027|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding||c.*1347G>A|||||3087|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding||c.*1396G>A|||||3087|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding||c.*1534G>A|||||3087| 22 31533751 . C G . . ANN=G|missense_variant|MODERATE|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|4/7|c.1011G>C|p.Arg337Ser|1264/2697|1011/1530|337/509||,G|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding||c.*3070C>G|||||3069|,G|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding||c.*3192C>G|||||3326|,G|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron||n.*2810C>G|||||3069|,G|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding||c.*2116C>G|||||3069|,G|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding||c.*1938C>G|||||3069|,G|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding||c.*2238C>G|||||3069|,G|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding||c.*1347C>G|||||3129|,G|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding||c.*1396C>G|||||3129|,G|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding||c.*1534C>G|||||3129| 22 31533796 . G C . . ANN=C|missense_variant|MODERATE|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|4/7|c.966C>G|p.Ser322Arg|1219/2697|966/1530|322/509||,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding||c.*3070G>C|||||3114|,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding||c.*3192G>C|||||3371|,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron||n.*2810G>C|||||3114|,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding||c.*2116G>C|||||3114|,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding||c.*1938G>C|||||3114|,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding||c.*2238G>C|||||3114|,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding||c.*1347G>C|||||3174|,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding||c.*1396G>C|||||3174|,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding||c.*1534G>C|||||3174| 22 31533843 . G A . . ANN=A|missense_variant|MODERATE|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|4/7|c.919C>T|p.His307Tyr|1172/2697|919/1530|307/509||,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding||c.*3070G>A|||||3161|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding||c.*3192G>A|||||3418|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron||n.*2810G>A|||||3161|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding||c.*2116G>A|||||3161|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding||c.*1938G>A|||||3161|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding||c.*2238G>A|||||3161|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding||c.*1347G>A|||||3221|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding||c.*1396G>A|||||3221|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding||c.*1534G>A|||||3221| 22 31533855 . G A . . ANN=A|stop_gained|HIGH|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|4/7|c.907C>T|p.Arg303*|1160/2697|907/1530|303/509||,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding||c.*3070G>A|||||3173|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding||c.*3192G>A|||||3430|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron||n.*2810G>A|||||3173|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding||c.*2116G>A|||||3173|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding||c.*1938G>A|||||3173|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding||c.*2238G>A|||||3173|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding||c.*1347G>A|||||3233|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding||c.*1396G>A|||||3233|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding||c.*1534G>A|||||3233|;LOF=(PLA2G3|ENSG00000100078|1|1.00);NMD=(PLA2G3|ENSG00000100078|1|1.00) 22 31533869 . G C . . ANN=C|missense_variant|MODERATE|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|4/7|c.893C>G|p.Ala298Gly|1146/2697|893/1530|298/509||,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding||c.*3070G>C|||||3187|,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding||c.*3192G>C|||||3444|,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron||n.*2810G>C|||||3187|,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding||c.*2116G>C|||||3187|,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding||c.*1938G>C|||||3187|,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding||c.*2238G>C|||||3187|,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding||c.*1347G>C|||||3247|,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding||c.*1396G>C|||||3247|,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding||c.*1534G>C|||||3247| 22 31533906 . G A . . ANN=A|missense_variant|MODERATE|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|4/7|c.856C>T|p.Arg286Trp|1109/2697|856/1530|286/509||,A|sequence_feature|LOW|PLA2G3|ENSG00000100078|region_of_interest:Phospholipase_A2-like|ENST00000215885|protein_coding|3/7|c.856C>T||||||,A|sequence_feature|LOW|PLA2G3|ENSG00000100078|region_of_interest:Phospholipase_A2-like|ENST00000215885|protein_coding|2/7|c.856C>T||||||,A|sequence_feature|LOW|PLA2G3|ENSG00000100078|region_of_interest:Phospholipase_A2-like|ENST00000215885|protein_coding|4/7|c.856C>T||||||,A|sequence_feature|LOW|PLA2G3|ENSG00000100078|region_of_interest:Phospholipase_A2-like|ENST00000215885|protein_coding|1/7|c.856C>T||||||,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding||c.*3070G>A|||||3224|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding||c.*3192G>A|||||3481|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron||n.*2810G>A|||||3224|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding||c.*2116G>A|||||3224|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding||c.*1938G>A|||||3224|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding||c.*2238G>A|||||3224|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding||c.*1347G>A|||||3284|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding||c.*1396G>A|||||3284|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding||c.*1534G>A|||||3284| 22 31533952 . G A . . ANN=A|synonymous_variant|LOW|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|4/7|c.810C>T|p.Leu270Leu|1063/2697|810/1530|270/509||,A|sequence_feature|LOW|PLA2G3|ENSG00000100078|region_of_interest:Phospholipase_A2-like|ENST00000215885|protein_coding|3/7|c.810C>T||||||,A|sequence_feature|LOW|PLA2G3|ENSG00000100078|region_of_interest:Phospholipase_A2-like|ENST00000215885|protein_coding|2/7|c.810C>T||||||,A|sequence_feature|LOW|PLA2G3|ENSG00000100078|region_of_interest:Phospholipase_A2-like|ENST00000215885|protein_coding|4/7|c.810C>T||||||,A|sequence_feature|LOW|PLA2G3|ENSG00000100078|region_of_interest:Phospholipase_A2-like|ENST00000215885|protein_coding|1/7|c.810C>T||||||,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding||c.*3070G>A|||||3270|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding||c.*3192G>A|||||3527|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron||n.*2810G>A|||||3270|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding||c.*2116G>A|||||3270|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding||c.*1938G>A|||||3270|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding||c.*2238G>A|||||3270|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding||c.*1347G>A|||||3330|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding||c.*1396G>A|||||3330|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding||c.*1534G>A|||||3330| 22 31533967 . G A . . ANN=A|synonymous_variant|LOW|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|4/7|c.795C>T|p.Tyr265Tyr|1048/2697|795/1530|265/509||,A|sequence_feature|LOW|PLA2G3|ENSG00000100078|region_of_interest:Phospholipase_A2-like|ENST00000215885|protein_coding|3/7|c.795C>T||||||,A|sequence_feature|LOW|PLA2G3|ENSG00000100078|region_of_interest:Phospholipase_A2-like|ENST00000215885|protein_coding|2/7|c.795C>T||||||,A|sequence_feature|LOW|PLA2G3|ENSG00000100078|region_of_interest:Phospholipase_A2-like|ENST00000215885|protein_coding|4/7|c.795C>T||||||,A|sequence_feature|LOW|PLA2G3|ENSG00000100078|region_of_interest:Phospholipase_A2-like|ENST00000215885|protein_coding|1/7|c.795C>T||||||,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding||c.*3070G>A|||||3285|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding||c.*3192G>A|||||3542|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron||n.*2810G>A|||||3285|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding||c.*2116G>A|||||3285|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding||c.*1938G>A|||||3285|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding||c.*2238G>A|||||3285|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding||c.*1347G>A|||||3345|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding||c.*1396G>A|||||3345|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding||c.*1534G>A|||||3345| 22 31534258 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|3/6|c.782+4C>T||||||,A|sequence_feature|LOW|PLA2G3|ENSG00000100078|region_of_interest:Phospholipase_A2-like|ENST00000215885|protein_coding|3/7|c.782+4C>T||||||,A|sequence_feature|LOW|PLA2G3|ENSG00000100078|region_of_interest:Phospholipase_A2-like|ENST00000215885|protein_coding|2/7|c.782+4C>T||||||,A|sequence_feature|LOW|PLA2G3|ENSG00000100078|region_of_interest:Phospholipase_A2-like|ENST00000215885|protein_coding|4/7|c.782+4C>T||||||,A|sequence_feature|LOW|PLA2G3|ENSG00000100078|region_of_interest:Phospholipase_A2-like|ENST00000215885|protein_coding|1/7|c.782+4C>T||||||,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding||c.*3070G>A|||||3576|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding||c.*3192G>A|||||3833|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron||n.*2810G>A|||||3576|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding||c.*2116G>A|||||3576|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding||c.*1938G>A|||||3576|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding||c.*2238G>A|||||3576|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding||c.*1347G>A|||||3636|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding||c.*1396G>A|||||3636|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding||c.*1534G>A|||||3636| 22 31534280 . G A . . ANN=A|missense_variant|MODERATE|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|3/7|c.764C>T|p.Ala255Val|1017/2697|764/1530|255/509||,A|sequence_feature|LOW|PLA2G3|ENSG00000100078|region_of_interest:Phospholipase_A2-like|ENST00000215885|protein_coding|3/7|c.764C>T||||||,A|sequence_feature|LOW|PLA2G3|ENSG00000100078|region_of_interest:Phospholipase_A2-like|ENST00000215885|protein_coding|2/7|c.764C>T||||||,A|sequence_feature|LOW|PLA2G3|ENSG00000100078|region_of_interest:Phospholipase_A2-like|ENST00000215885|protein_coding|4/7|c.764C>T||||||,A|sequence_feature|LOW|PLA2G3|ENSG00000100078|region_of_interest:Phospholipase_A2-like|ENST00000215885|protein_coding|1/7|c.764C>T||||||,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding||c.*3070G>A|||||3598|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding||c.*3192G>A|||||3855|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron||n.*2810G>A|||||3598|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding||c.*2116G>A|||||3598|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding||c.*1938G>A|||||3598|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding||c.*2238G>A|||||3598|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding||c.*1347G>A|||||3658|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding||c.*1396G>A|||||3658|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding||c.*1534G>A|||||3658| 22 31534357 . C T . . ANN=T|synonymous_variant|LOW|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|3/7|c.687G>A|p.Ser229Ser|940/2697|687/1530|229/509||,T|sequence_feature|LOW|PLA2G3|ENSG00000100078|region_of_interest:Phospholipase_A2-like|ENST00000215885|protein_coding|3/7|c.687G>A||||||,T|sequence_feature|LOW|PLA2G3|ENSG00000100078|region_of_interest:Phospholipase_A2-like|ENST00000215885|protein_coding|2/7|c.687G>A||||||,T|sequence_feature|LOW|PLA2G3|ENSG00000100078|region_of_interest:Phospholipase_A2-like|ENST00000215885|protein_coding|4/7|c.687G>A||||||,T|sequence_feature|LOW|PLA2G3|ENSG00000100078|region_of_interest:Phospholipase_A2-like|ENST00000215885|protein_coding|1/7|c.687G>A||||||,T|sequence_feature|LOW|PLA2G3|ENSG00000100078|disulfide_bond|ENST00000215885|protein_coding|3/7|c.687G>A||||||,T|sequence_feature|LOW|PLA2G3|ENSG00000100078|disulfide_bond|ENST00000215885|protein_coding|2/7|c.687G>A||||||,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding||c.*3070C>T|||||3675|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding||c.*3192C>T|||||3932|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron||n.*2810C>T|||||3675|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding||c.*2116C>T|||||3675|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding||c.*1938C>T|||||3675|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding||c.*2238C>T|||||3675|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding||c.*1347C>T|||||3735|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding||c.*1396C>T|||||3735|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding||c.*1534C>T|||||3735| 22 31534658 . G A . . ANN=A|synonymous_variant|LOW|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|2/7|c.642C>T|p.Asp214Asp|895/2697|642/1530|214/509||,A|sequence_feature|LOW|PLA2G3|ENSG00000100078|region_of_interest:Phospholipase_A2-like|ENST00000215885|protein_coding|3/7|c.642C>T||||||,A|sequence_feature|LOW|PLA2G3|ENSG00000100078|region_of_interest:Phospholipase_A2-like|ENST00000215885|protein_coding|2/7|c.642C>T||||||,A|sequence_feature|LOW|PLA2G3|ENSG00000100078|region_of_interest:Phospholipase_A2-like|ENST00000215885|protein_coding|4/7|c.642C>T||||||,A|sequence_feature|LOW|PLA2G3|ENSG00000100078|region_of_interest:Phospholipase_A2-like|ENST00000215885|protein_coding|1/7|c.642C>T||||||,A|sequence_feature|LOW|PLA2G3|ENSG00000100078|disulfide_bond|ENST00000215885|protein_coding|3/7|c.642C>T||||||,A|sequence_feature|LOW|PLA2G3|ENSG00000100078|disulfide_bond|ENST00000215885|protein_coding|2/7|c.642C>T||||||,A|sequence_feature|LOW|PLA2G3|ENSG00000100078|active_site|ENST00000215885|protein_coding|2/7|c.642C>T||||||,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding||c.*3070G>A|||||3976|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding||c.*3192G>A|||||4233|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron||n.*2810G>A|||||3976|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding||c.*2116G>A|||||3976|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding||c.*1938G>A|||||3976|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding||c.*2238G>A|||||3976|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding||c.*1347G>A|||||4036|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding||c.*1396G>A|||||4036|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding||c.*1534G>A|||||4036| 22 31535777 . C G . . ANN=G|sequence_feature|LOW|PLA2G3|ENSG00000100078|region_of_interest:Phospholipase_A2-like|ENST00000215885|protein_coding|3/7|c.514+50G>C||||||,G|sequence_feature|LOW|PLA2G3|ENSG00000100078|region_of_interest:Phospholipase_A2-like|ENST00000215885|protein_coding|2/7|c.514+50G>C||||||,G|sequence_feature|LOW|PLA2G3|ENSG00000100078|region_of_interest:Phospholipase_A2-like|ENST00000215885|protein_coding|4/7|c.514+50G>C||||||,G|sequence_feature|LOW|PLA2G3|ENSG00000100078|region_of_interest:Phospholipase_A2-like|ENST00000215885|protein_coding|1/7|c.514+50G>C||||||,G|sequence_feature|LOW|PLA2G3|ENSG00000100078|disulfide_bond|ENST00000215885|protein_coding|2/7|c.514+50G>C||||||,G|sequence_feature|LOW|PLA2G3|ENSG00000100078|disulfide_bond|ENST00000215885|protein_coding|1/7|c.514+50G>C||||||,G|intron_variant|MODIFIER|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|1/6|c.514+50G>C|||||| 22 31535808 . C T . . ANN=T|sequence_feature|LOW|PLA2G3|ENSG00000100078|region_of_interest:Phospholipase_A2-like|ENST00000215885|protein_coding|3/7|c.514+19G>A||||||,T|sequence_feature|LOW|PLA2G3|ENSG00000100078|region_of_interest:Phospholipase_A2-like|ENST00000215885|protein_coding|2/7|c.514+19G>A||||||,T|sequence_feature|LOW|PLA2G3|ENSG00000100078|region_of_interest:Phospholipase_A2-like|ENST00000215885|protein_coding|4/7|c.514+19G>A||||||,T|sequence_feature|LOW|PLA2G3|ENSG00000100078|region_of_interest:Phospholipase_A2-like|ENST00000215885|protein_coding|1/7|c.514+19G>A||||||,T|sequence_feature|LOW|PLA2G3|ENSG00000100078|disulfide_bond|ENST00000215885|protein_coding|2/7|c.514+19G>A||||||,T|sequence_feature|LOW|PLA2G3|ENSG00000100078|disulfide_bond|ENST00000215885|protein_coding|1/7|c.514+19G>A||||||,T|intron_variant|MODIFIER|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|1/6|c.514+19G>A|||||| 22 31535872 . G C . . ANN=C|missense_variant|MODERATE|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|1/7|c.469C>G|p.Leu157Val|722/2697|469/1530|157/509||,C|sequence_feature|LOW|PLA2G3|ENSG00000100078|region_of_interest:Phospholipase_A2-like|ENST00000215885|protein_coding|3/7|c.469C>G||||||,C|sequence_feature|LOW|PLA2G3|ENSG00000100078|region_of_interest:Phospholipase_A2-like|ENST00000215885|protein_coding|2/7|c.469C>G||||||,C|sequence_feature|LOW|PLA2G3|ENSG00000100078|region_of_interest:Phospholipase_A2-like|ENST00000215885|protein_coding|4/7|c.469C>G||||||,C|sequence_feature|LOW|PLA2G3|ENSG00000100078|region_of_interest:Phospholipase_A2-like|ENST00000215885|protein_coding|1/7|c.469C>G|||||| 22 31535947 . G A . . ANN=A|stop_gained|HIGH|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|1/7|c.394C>T|p.Arg132*|647/2697|394/1530|132/509||;LOF=(PLA2G3|ENSG00000100078|1|1.00);NMD=(PLA2G3|ENSG00000100078|1|1.00) 22 31535981 . C T . . ANN=T|synonymous_variant|LOW|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|1/7|c.360G>A|p.Ala120Ala|613/2697|360/1530|120/509|| 22 31535995 . C G . . ANN=G|missense_variant|MODERATE|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|1/7|c.346G>C|p.Glu116Gln|599/2697|346/1530|116/509|| 22 31536005 . C G . . ANN=G|missense_variant|MODERATE|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|1/7|c.336G>C|p.Gln112His|589/2697|336/1530|112/509|| 22 31536074 . A T . . ANN=T|missense_variant|MODERATE|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|1/7|c.267T>A|p.His89Gln|520/2697|267/1530|89/509|| 22 31536092 . G A . . ANN=A|synonymous_variant|LOW|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|1/7|c.249C>T|p.Tyr83Tyr|502/2697|249/1530|83/509|| 22 31536133 . A C . . ANN=C|missense_variant|MODERATE|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|1/7|c.208T>G|p.Ser70Ala|461/2697|208/1530|70/509|| 22 31536134 . C CT . . ANN=T|frameshift_variant|HIGH|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|1/7|c.206dupA|p.Ser70fs|459/2697|206/1530|69/509||;LOF=(PLA2G3|ENSG00000100078|1|1.00) 22 31536159 . C T . . ANN=T|missense_variant|MODERATE|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|1/7|c.182G>A|p.Arg61His|435/2697|182/1530|61/509|| 22 31536160 . G A . . ANN=A|missense_variant|MODERATE|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|1/7|c.181C>T|p.Arg61Cys|434/2697|181/1530|61/509|| 22 31536194 . G T . . ANN=T|synonymous_variant|LOW|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|1/7|c.147C>A|p.Ala49Ala|400/2697|147/1530|49/509|| 22 31536232 . C T . . ANN=T|missense_variant|MODERATE|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|1/7|c.109G>A|p.Val37Ile|362/2697|109/1530|37/509|| 22 31536233 . G C . . ANN=C|synonymous_variant|LOW|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|1/7|c.108C>G|p.Ala36Ala|361/2697|108/1530|36/509|| 22 31583078 . A C . . ANN=C|5_prime_UTR_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000326132|protein_coding|2/7|c.-3A>C|||||3|,C|5_prime_UTR_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000426256|protein_coding|2/6|c.-76A>C|||||76|,C|5_prime_UTR_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000518626|nonsense_mediated_decay|2/8|n.-3A>C|||||3|,C|5_prime_UTR_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000266252|protein_coding|2/5|c.-3A>C|||||3|,C|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000494514|retained_intron|1/4|n.122-5592A>C||||||,C|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000471384|retained_intron|1/5|n.97-5592A>C||||||,C|non_coding_exon_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000518626|nonsense_mediated_decay|2/8|n.-3A>C||||||,C|non_coding_exon_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000468921|retained_intron|3/5|n.205A>C|||||| 22 31583112 . C T . . ANN=T|missense_variant|MODERATE|RNF185|ENSG00000138942|transcript|ENST00000326132|protein_coding|2/7|c.32C>T|p.Ser11Phe|191/3171|32/579|11/192||,T|missense_variant|MODERATE|RNF185|ENSG00000138942|transcript|ENST00000266252|protein_coding|2/5|c.32C>T|p.Ser11Phe|141/2946|32/411|11/136||,T|5_prime_UTR_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000426256|protein_coding|2/6|c.-42C>T|||||42|,T|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000494514|retained_intron|1/4|n.122-5558C>T||||||,T|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000471384|retained_intron|1/5|n.97-5558C>T||||||,T|non_coding_exon_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000518626|nonsense_mediated_decay|2/8|n.32C>T||||||,T|non_coding_exon_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000468921|retained_intron|3/5|n.239C>T|||||| 22 31583129 . G A . . ANN=A|missense_variant|MODERATE|RNF185|ENSG00000138942|transcript|ENST00000326132|protein_coding|2/7|c.49G>A|p.Ala17Thr|208/3171|49/579|17/192||,A|missense_variant|MODERATE|RNF185|ENSG00000138942|transcript|ENST00000266252|protein_coding|2/5|c.49G>A|p.Ala17Thr|158/2946|49/411|17/136||,A|5_prime_UTR_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000426256|protein_coding|2/6|c.-25G>A|||||25|,A|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000494514|retained_intron|1/4|n.122-5541G>A||||||,A|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000471384|retained_intron|1/5|n.97-5541G>A||||||,A|non_coding_exon_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000518626|nonsense_mediated_decay|2/8|n.49G>A||||||,A|non_coding_exon_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000468921|retained_intron|3/5|n.256G>A|||||| 22 31583169 . G A . . ANN=A|missense_variant|MODERATE|RNF185|ENSG00000138942|transcript|ENST00000326132|protein_coding|2/7|c.89G>A|p.Ser30Asn|248/3171|89/579|30/192||,A|missense_variant|MODERATE|RNF185|ENSG00000138942|transcript|ENST00000426256|protein_coding|2/6|c.16G>A|p.Ala6Thr|259/994|16/393|6/130||,A|missense_variant|MODERATE|RNF185|ENSG00000138942|transcript|ENST00000266252|protein_coding|2/5|c.89G>A|p.Ser30Asn|198/2946|89/411|30/136||,A|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000494514|retained_intron|1/4|n.122-5501G>A||||||,A|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000471384|retained_intron|1/5|n.97-5501G>A||||||,A|non_coding_exon_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000518626|nonsense_mediated_decay|2/8|n.89G>A||||||,A|non_coding_exon_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000468921|retained_intron|3/5|n.296G>A|||||| 22 31583300 . T G . . ANN=G|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000326132|protein_coding|2/6|c.176+44T>G||||||,G|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000426256|protein_coding|2/5|c.103+44T>G||||||,G|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000494514|retained_intron|1/4|n.122-5370T>G||||||,G|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000471384|retained_intron|1/5|n.97-5370T>G||||||,G|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000518626|nonsense_mediated_decay|2/7|n.176+44T>G||||||,G|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000468921|retained_intron|3/4|n.383+44T>G||||||,G|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000266252|protein_coding|2/4|c.176+44T>G|||||| 22 31583301 . G A . . ANN=A|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000326132|protein_coding|2/6|c.176+45G>A||||||,A|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000426256|protein_coding|2/5|c.103+45G>A||||||,A|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000494514|retained_intron|1/4|n.122-5369G>A||||||,A|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000471384|retained_intron|1/5|n.97-5369G>A||||||,A|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000518626|nonsense_mediated_decay|2/7|n.176+45G>A||||||,A|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000468921|retained_intron|3/4|n.383+45G>A||||||,A|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000266252|protein_coding|2/4|c.176+45G>A|||||| 22 31588676 . G A . . ANN=A|missense_variant|MODERATE|RNF185|ENSG00000138942|transcript|ENST00000426256|protein_coding|3/6|c.110G>A|p.Arg37His|353/994|110/393|37/130||,A|synonymous_variant|LOW|RNF185|ENSG00000138942|transcript|ENST00000326132|protein_coding|3/7|c.183G>A|p.Pro61Pro|342/3171|183/579|61/192||,A|synonymous_variant|LOW|RNF185|ENSG00000138942|transcript|ENST00000266252|protein_coding|3/5|c.183G>A|p.Pro61Pro|292/2946|183/411|61/136||,A|non_coding_exon_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000494514|retained_intron|2/5|n.128G>A||||||,A|non_coding_exon_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000471384|retained_intron|2/6|n.103G>A||||||,A|non_coding_exon_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000518626|nonsense_mediated_decay|3/8|n.183G>A||||||,A|non_coding_exon_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000468921|retained_intron|4/5|n.390G>A|||||| 22 31588735 . A G . . ANN=G|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000326132|protein_coding|3/6|c.195+47A>G||||||,G|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000426256|protein_coding|3/5|c.122+47A>G||||||,G|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000494514|retained_intron|2/4|n.140+47A>G||||||,G|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000471384|retained_intron|2/5|n.115+47A>G||||||,G|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000518626|nonsense_mediated_decay|3/7|n.195+47A>G||||||,G|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000468921|retained_intron|4/4|n.402+47A>G||||||,G|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000266252|protein_coding|3/4|c.195+47A>G|||||| 22 31591512 . C A . . ANN=A|synonymous_variant|LOW|RNF185|ENSG00000138942|transcript|ENST00000326132|protein_coding|4/7|c.253C>A|p.Arg85Arg|412/3171|253/579|85/192||,A|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000426256|protein_coding|3/5|c.123-1410C>A||||||,A|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000494514|retained_intron|2/4|n.141-1410C>A||||||,A|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000468921|retained_intron|4/4|n.403-1410C>A||||||,A|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000266252|protein_coding|3/4|c.195+2824C>A||||||,A|non_coding_exon_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000471384|retained_intron|3/6|n.173C>A||||||,A|non_coding_exon_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000518626|nonsense_mediated_decay|4/8|n.253C>A|||||| 22 31591595 . C T . . ANN=T|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000326132|protein_coding|4/6|c.308+28C>T||||||,T|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000426256|protein_coding|3/5|c.123-1327C>T||||||,T|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000494514|retained_intron|2/4|n.141-1327C>T||||||,T|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000471384|retained_intron|3/5|n.228+28C>T||||||,T|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000518626|nonsense_mediated_decay|4/7|n.308+28C>T||||||,T|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000468921|retained_intron|4/4|n.403-1327C>T||||||,T|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000266252|protein_coding|3/4|c.195+2907C>T|||||| 22 31597434 . G A . . ANN=A|downstream_gene_variant|MODIFIER|RNF185-AS1|ENSG00000254835|transcript|ENST00000526089|antisense||n.*353C>T|||||3816|,A|downstream_gene_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000468921|retained_intron||n.*512G>A|||||4403|,A|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000326132|protein_coding|5/6|c.364-50G>A||||||,A|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000426256|protein_coding|4/5|c.178-50G>A||||||,A|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000494514|retained_intron|3/4|n.363-50G>A||||||,A|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000471384|retained_intron|4/5|n.451-50G>A||||||,A|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000518626|nonsense_mediated_decay|5/7|n.364-50G>A||||||,A|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000266252|protein_coding|3/4|c.196-50G>A|||||| 22 31600460 . T C . . ANN=C|sequence_feature|LOW|RNF185|ENSG00000138942|topological_domain:Mitochondrial_intermembrane|ENST00000266252|protein_coding|4/5|c.314-15T>C||||||,C|sequence_feature|LOW|RNF185|ENSG00000138942|topological_domain:Mitochondrial_intermembrane|ENST00000266252|protein_coding|5/5|c.314-15T>C||||||,C|downstream_gene_variant|MODIFIER|RNF185-AS1|ENSG00000254835|transcript|ENST00000526089|antisense||n.*353A>G|||||790|,C|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000326132|protein_coding|6/6|c.482-15T>C||||||,C|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000426256|protein_coding|5/5|c.296-15T>C||||||,C|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000494514|retained_intron|4/4|n.481-15T>C||||||,C|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000471384|retained_intron|5/5|n.569-15T>C||||||,C|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000518626|nonsense_mediated_decay|6/7|n.482-15T>C||||||,C|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000266252|protein_coding|4/4|c.314-15T>C|||||| 22 31608375 . A G . . ANN=G|5_prime_UTR_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|1/15|c.-154A>G|||||46020|,G|5_prime_UTR_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|1/12|c.-20A>G|||||20|,G|5_prime_UTR_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|1/16|c.-20A>G|||||20|,G|non_coding_exon_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000462625|retained_intron|1/3|n.151A>G|||||| 22 31608400 . C T . . ANN=T|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|1/12|c.6C>T|p.Ser2Ser|136/2863|6/1179|2/392||,T|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|1/16|c.6C>T|p.Ser2Ser|120/3670|6/1917|2/638||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|1/15|c.-129C>T||||||,T|5_prime_UTR_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|1/15|c.-129C>T|||||45995|,T|non_coding_exon_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000462625|retained_intron|1/3|n.176C>T|||||| 22 31608421 . G C . . ANN=C|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000462625|retained_intron|1/2|n.186+11G>C||||||,C|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|1/14|c.-119+11G>C||||||,C|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|1/11|c.16+11G>C||||||,C|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|1/15|c.16+11G>C|||||| 22 31621683 . C G . . ANN=G|upstream_gene_variant|MODIFIER|RNU6-1128P|ENSG00000199695|transcript|ENST00000362825|snRNA||n.-1G>C|||||2844|,G|downstream_gene_variant|MODIFIER|Y_RNA|ENSG00000202019|transcript|ENST00000365149|misc_RNA||n.*102G>C|||||4374|,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000462625|retained_intron|1/2|n.187-23C>G||||||,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|1/14|c.-119+13273C>G||||||,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|1/11|c.17-23C>G||||||,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|1/15|c.17-23C>G|||||| 22 31621779 . C T . . ANN=T|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|2/12|c.90C>T|p.Asn30Asn|220/2863|90/1179|30/392||,T|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|2/16|c.90C>T|p.Asn30Asn|204/3670|90/1917|30/638||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_1|ENST00000331728|protein_coding|3/16|c.90C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_1|ENST00000331728|protein_coding|2/16|c.90C>T||||||,T|upstream_gene_variant|MODIFIER|RNU6-1128P|ENSG00000199695|transcript|ENST00000362825|snRNA||n.-1G>A|||||2940|,T|downstream_gene_variant|MODIFIER|Y_RNA|ENSG00000202019|transcript|ENST00000365149|misc_RNA||n.*102G>A|||||4278|,T|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|1/14|c.-119+13369C>T||||||,T|non_coding_exon_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000462625|retained_intron|2/3|n.260C>T|||||| 22 31621792 . G A . . ANN=A|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|2/12|c.103G>A|p.Gly35Ser|233/2863|103/1179|35/392||,A|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|2/16|c.103G>A|p.Gly35Ser|217/3670|103/1917|35/638||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_1|ENST00000331728|protein_coding|3/16|c.103G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_1|ENST00000331728|protein_coding|2/16|c.103G>A||||||,A|upstream_gene_variant|MODIFIER|RNU6-1128P|ENSG00000199695|transcript|ENST00000362825|snRNA||n.-1C>T|||||2953|,A|downstream_gene_variant|MODIFIER|Y_RNA|ENSG00000202019|transcript|ENST00000365149|misc_RNA||n.*102C>T|||||4265|,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|1/14|c.-119+13382G>A||||||,A|non_coding_exon_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000462625|retained_intron|2/3|n.273G>A|||||| 22 31621835 . A G . . ANN=G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_1|ENST00000331728|protein_coding|3/16|c.116+30A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_1|ENST00000331728|protein_coding|2/16|c.116+30A>G||||||,G|upstream_gene_variant|MODIFIER|RNU6-1128P|ENSG00000199695|transcript|ENST00000362825|snRNA||n.-1T>C|||||2996|,G|downstream_gene_variant|MODIFIER|Y_RNA|ENSG00000202019|transcript|ENST00000365149|misc_RNA||n.*102T>C|||||4222|,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000462625|retained_intron|2/2|n.286+30A>G||||||,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|1/14|c.-119+13425A>G||||||,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|2/11|c.116+30A>G||||||,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|2/15|c.116+30A>G|||||| 22 31644691 . T C . . ANN=C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_1|ENST00000331728|protein_coding|3/16|c.117-9586T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_1|ENST00000331728|protein_coding|2/16|c.117-9586T>C||||||,C|5_prime_UTR_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|1/15|c.-12T>C|||||12|,C|5_prime_UTR_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000425203|protein_coding|1/2|c.-12T>C|||||12|WARNING_TRANSCRIPT_INCOMPLETE,C|5_prime_UTR_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|1/15|c.-12T>C|||||12|,C|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000462625|retained_intron|2/2|n.287-9586T>C||||||,C|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|1/14|c.-118-9586T>C||||||,C|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|2/11|c.117-17241T>C||||||,C|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|2/15|c.117-9586T>C|||||| 22 31644710 . G A . . ANN=A|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|1/15|c.8G>A|p.Ser3Asn|238/2789|8/2061|3/686||,A|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000425203|protein_coding|1/2|c.8G>A|p.Ser3Asn|367/606|8/247|3/81||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|1/15|c.8G>A|p.Ser3Asn|323/3462|8/1854|3/617||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_1|ENST00000331728|protein_coding|3/16|c.117-9567G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_1|ENST00000331728|protein_coding|2/16|c.117-9567G>A||||||,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000462625|retained_intron|2/2|n.287-9567G>A||||||,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|1/14|c.-118-9567G>A||||||,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|2/11|c.117-17222G>A||||||,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|2/15|c.117-9567G>A|||||| 22 31644730 . T G . . ANN=G|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|1/15|c.28T>G|p.Tyr10Asp|258/2789|28/2061|10/686||,G|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000425203|protein_coding|1/2|c.28T>G|p.Tyr10Asp|387/606|28/247|10/81||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|1/15|c.28T>G|p.Tyr10Asp|343/3462|28/1854|10/617||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_1|ENST00000331728|protein_coding|3/16|c.117-9547T>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_1|ENST00000331728|protein_coding|2/16|c.117-9547T>G||||||,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000462625|retained_intron|2/2|n.287-9547T>G||||||,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|1/14|c.-118-9547T>G||||||,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|2/11|c.117-17202T>G||||||,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|2/15|c.117-9547T>G|||||| 22 31644731 . A G . . ANN=G|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|1/15|c.29A>G|p.Tyr10Cys|259/2789|29/2061|10/686||,G|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000425203|protein_coding|1/2|c.29A>G|p.Tyr10Cys|388/606|29/247|10/81||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|1/15|c.29A>G|p.Tyr10Cys|344/3462|29/1854|10/617||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_1|ENST00000331728|protein_coding|3/16|c.117-9546A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_1|ENST00000331728|protein_coding|2/16|c.117-9546A>G||||||,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000462625|retained_intron|2/2|n.287-9546A>G||||||,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|1/14|c.-118-9546A>G||||||,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|2/11|c.117-17201A>G||||||,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|2/15|c.117-9546A>G|||||| 22 31654293 . G A . . ANN=A|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|2/15|c.70G>A|p.Asp24Asn|300/2789|70/2061|24/686||,A|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|3/16|c.133G>A|p.Asp45Asn|247/3670|133/1917|45/638||,A|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000425203|protein_coding|2/2|c.70G>A|p.Asp24Asn|429/606|70/247|24/81||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|2/15|c.70G>A|p.Asp24Asn|385/3462|70/1854|24/617||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_1|ENST00000331728|protein_coding|3/16|c.133G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_1|ENST00000331728|protein_coding|2/16|c.133G>A||||||,A|5_prime_UTR_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|2/15|c.-102G>A|||||102|,A|upstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000465937|retained_intron||n.-1G>A|||||652|,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|2/11|c.117-7639G>A||||||,A|non_coding_exon_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000462625|retained_intron|3/3|n.303G>A|||||| 22 31655145 . C T . . ANN=T|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|3/15|c.228C>T|p.Ala76Ala|458/2789|228/2061|76/686||,T|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|3/15|c.57C>T|p.Ala19Ala|326/2657|57/1890|19/629||,T|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|4/16|c.291C>T|p.Ala97Ala|405/3670|291/1917|97/638||,T|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|3/15|c.228C>T|p.Ala76Ala|543/3462|228/1854|76/617||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_2|ENST00000340552|protein_coding|2/15|c.228C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_2|ENST00000340552|protein_coding|3/15|c.228C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_2|ENST00000340552|protein_coding|4/15|c.228C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_2|ENST00000331728|protein_coding|3/16|c.291C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_2|ENST00000331728|protein_coding|4/16|c.291C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_2|ENST00000331728|protein_coding|5/16|c.291C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_2|ENST00000333611|protein_coding|2/15|c.228C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_2|ENST00000333611|protein_coding|3/15|c.228C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_2|ENST00000333611|protein_coding|4/15|c.228C>T||||||,T|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000462625|retained_intron||n.*1042C>T|||||113|,T|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000425203|protein_coding||c.*606C>T|||||675|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|2/11|c.117-6787C>T||||||,T|non_coding_exon_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000465937|retained_intron|1/5|n.201C>T|||||| 22 31655196 . G A . . ANN=A|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|3/15|c.279G>A|p.Val93Val|509/2789|279/2061|93/686||,A|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|3/15|c.108G>A|p.Val36Val|377/2657|108/1890|36/629||,A|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|4/16|c.342G>A|p.Val114Val|456/3670|342/1917|114/638||,A|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|3/15|c.279G>A|p.Val93Val|594/3462|279/1854|93/617||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_2|ENST00000340552|protein_coding|2/15|c.279G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_2|ENST00000340552|protein_coding|3/15|c.279G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_2|ENST00000340552|protein_coding|4/15|c.279G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_2|ENST00000331728|protein_coding|3/16|c.342G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_2|ENST00000331728|protein_coding|4/16|c.342G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_2|ENST00000331728|protein_coding|5/16|c.342G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_2|ENST00000333611|protein_coding|2/15|c.279G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_2|ENST00000333611|protein_coding|3/15|c.279G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_2|ENST00000333611|protein_coding|4/15|c.279G>A||||||,A|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000462625|retained_intron||n.*1042G>A|||||164|,A|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000425203|protein_coding||c.*606G>A|||||726|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|2/11|c.117-6736G>A||||||,A|non_coding_exon_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000465937|retained_intron|1/5|n.252G>A|||||| 22 31655208 . C T . . ANN=T|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|3/15|c.291C>T|p.Thr97Thr|521/2789|291/2061|97/686||,T|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|3/15|c.120C>T|p.Thr40Thr|389/2657|120/1890|40/629||,T|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|4/16|c.354C>T|p.Thr118Thr|468/3670|354/1917|118/638||,T|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|3/15|c.291C>T|p.Thr97Thr|606/3462|291/1854|97/617||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_2|ENST00000340552|protein_coding|2/15|c.291C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_2|ENST00000340552|protein_coding|3/15|c.291C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_2|ENST00000340552|protein_coding|4/15|c.291C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_2|ENST00000331728|protein_coding|3/16|c.354C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_2|ENST00000331728|protein_coding|4/16|c.354C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_2|ENST00000331728|protein_coding|5/16|c.354C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_2|ENST00000333611|protein_coding|2/15|c.291C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_2|ENST00000333611|protein_coding|3/15|c.291C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_2|ENST00000333611|protein_coding|4/15|c.291C>T||||||,T|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000462625|retained_intron||n.*1042C>T|||||176|,T|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000425203|protein_coding||c.*606C>T|||||738|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|2/11|c.117-6724C>T||||||,T|non_coding_exon_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000465937|retained_intron|1/5|n.264C>T|||||| 22 31655844 . C CA . . ANN=A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_2|ENST00000340552|protein_coding|2/15|c.300-31_300-30insA||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_2|ENST00000340552|protein_coding|3/15|c.300-31_300-30insA||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_2|ENST00000340552|protein_coding|4/15|c.300-31_300-30insA||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|beta_strand|ENST00000340552|protein_coding|3/15|c.300-31_300-30insA||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|beta_strand|ENST00000340552|protein_coding|4/15|c.300-31_300-30insA||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_2|ENST00000331728|protein_coding|3/16|c.363-31_363-30insA||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_2|ENST00000331728|protein_coding|4/16|c.363-31_363-30insA||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_2|ENST00000331728|protein_coding|5/16|c.363-31_363-30insA||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|beta_strand|ENST00000331728|protein_coding|4/16|c.363-31_363-30insA||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|beta_strand|ENST00000331728|protein_coding|5/16|c.363-31_363-30insA||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_2|ENST00000333611|protein_coding|2/15|c.300-31_300-30insA||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_2|ENST00000333611|protein_coding|3/15|c.300-31_300-30insA||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_2|ENST00000333611|protein_coding|4/15|c.300-31_300-30insA||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|beta_strand|ENST00000333611|protein_coding|3/15|c.300-31_300-30insA||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|beta_strand|ENST00000333611|protein_coding|4/15|c.300-31_300-30insA||||||,A|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000462625|retained_intron||n.*1042_*1042insA|||||813|,A|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000425203|protein_coding||c.*606_*606insA|||||1375|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|3/14|c.300-30dupA||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|3/14|c.129-30dupA||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|2/11|c.117-6087dupA||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|4/15|c.363-30dupA||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|3/14|c.300-30dupA||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000465937|retained_intron|1/4|n.273-30dupA||||||INFO_REALIGN_3_PRIME 22 31656011 . G A . . ANN=A|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|4/15|c.436G>A|p.Val146Met|666/2789|436/2061|146/686||,A|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|4/15|c.265G>A|p.Val89Met|534/2657|265/1890|89/629||,A|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|5/16|c.499G>A|p.Val167Met|613/3670|499/1917|167/638||,A|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|4/15|c.436G>A|p.Val146Met|751/3462|436/1854|146/617||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000340552|protein_coding|5/15|c.436G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000340552|protein_coding|4/15|c.436G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000340552|protein_coding|6/15|c.436G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000331728|protein_coding|6/16|c.499G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000331728|protein_coding|5/16|c.499G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000331728|protein_coding|7/16|c.499G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000333611|protein_coding|5/15|c.436G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000333611|protein_coding|4/15|c.436G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000333611|protein_coding|6/15|c.436G>A||||||,A|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000462625|retained_intron||n.*1042G>A|||||979|,A|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000425203|protein_coding||c.*606G>A|||||1541|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|2/11|c.117-5921G>A||||||,A|non_coding_exon_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000465937|retained_intron|2/5|n.409G>A|||||| 22 31658156 . C T . . ANN=T|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|5/15|c.525C>T|p.Asn175Asn|755/2789|525/2061|175/686||,T|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|5/15|c.354C>T|p.Asn118Asn|623/2657|354/1890|118/629||,T|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|6/16|c.588C>T|p.Asn196Asn|702/3670|588/1917|196/638||,T|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|5/15|c.525C>T|p.Asn175Asn|840/3462|525/1854|175/617||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000340552|protein_coding|5/15|c.525C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000340552|protein_coding|4/15|c.525C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000340552|protein_coding|6/15|c.525C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000331728|protein_coding|6/16|c.588C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000331728|protein_coding|5/16|c.588C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000331728|protein_coding|7/16|c.588C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000333611|protein_coding|5/15|c.525C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000333611|protein_coding|4/15|c.525C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000333611|protein_coding|6/15|c.525C>T||||||,T|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000462625|retained_intron||n.*1042C>T|||||3124|,T|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000425203|protein_coding||c.*606C>T|||||3686|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|2/11|c.117-3776C>T||||||,T|non_coding_exon_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000465937|retained_intron|3/5|n.498C>T|||||| 22 31658175 . C G . . ANN=G|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|5/15|c.544C>G|p.Arg182Gly|774/2789|544/2061|182/686||,G|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|5/15|c.373C>G|p.Arg125Gly|642/2657|373/1890|125/629||,G|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|6/16|c.607C>G|p.Arg203Gly|721/3670|607/1917|203/638||,G|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|5/15|c.544C>G|p.Arg182Gly|859/3462|544/1854|182/617||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000340552|protein_coding|5/15|c.544C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000340552|protein_coding|4/15|c.544C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000340552|protein_coding|6/15|c.544C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000331728|protein_coding|6/16|c.607C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000331728|protein_coding|5/16|c.607C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000331728|protein_coding|7/16|c.607C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000333611|protein_coding|5/15|c.544C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000333611|protein_coding|4/15|c.544C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000333611|protein_coding|6/15|c.544C>G||||||,G|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000462625|retained_intron||n.*1042C>G|||||3143|,G|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000425203|protein_coding||c.*606C>G|||||3705|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|2/11|c.117-3757C>G||||||,G|non_coding_exon_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000465937|retained_intron|3/5|n.517C>G|||||| 22 31658205 . C T . . ANN=T|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|5/15|c.574C>T|p.Arg192Cys|804/2789|574/2061|192/686||,T|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|5/15|c.403C>T|p.Arg135Cys|672/2657|403/1890|135/629||,T|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|6/16|c.637C>T|p.Arg213Cys|751/3670|637/1917|213/638||,T|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|5/15|c.574C>T|p.Arg192Cys|889/3462|574/1854|192/617||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000340552|protein_coding|5/15|c.574C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000340552|protein_coding|4/15|c.574C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000340552|protein_coding|6/15|c.574C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000331728|protein_coding|6/16|c.637C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000331728|protein_coding|5/16|c.637C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000331728|protein_coding|7/16|c.637C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000333611|protein_coding|5/15|c.574C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000333611|protein_coding|4/15|c.574C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000333611|protein_coding|6/15|c.574C>T||||||,T|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000462625|retained_intron||n.*1042C>T|||||3173|,T|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000425203|protein_coding||c.*606C>T|||||3735|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|2/11|c.117-3727C>T||||||,T|non_coding_exon_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000465937|retained_intron|3/5|n.547C>T|||||| 22 31658215 . G A . . ANN=A|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|5/15|c.584G>A|p.Arg195Gln|814/2789|584/2061|195/686||,A|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|5/15|c.413G>A|p.Arg138Gln|682/2657|413/1890|138/629||,A|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|6/16|c.647G>A|p.Arg216Gln|761/3670|647/1917|216/638||,A|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|5/15|c.584G>A|p.Arg195Gln|899/3462|584/1854|195/617||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000340552|protein_coding|5/15|c.584G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000340552|protein_coding|4/15|c.584G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000340552|protein_coding|6/15|c.584G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000331728|protein_coding|6/16|c.647G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000331728|protein_coding|5/16|c.647G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000331728|protein_coding|7/16|c.647G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000333611|protein_coding|5/15|c.584G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000333611|protein_coding|4/15|c.584G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000333611|protein_coding|6/15|c.584G>A||||||,A|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000462625|retained_intron||n.*1042G>A|||||3183|,A|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000425203|protein_coding||c.*606G>A|||||3745|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|2/11|c.117-3717G>A||||||,A|non_coding_exon_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000465937|retained_intron|3/5|n.557G>A|||||| 22 31658757 . A C . . ANN=C|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|6/15|c.771A>C|p.Thr257Thr|1001/2789|771/2061|257/686||,C|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|6/15|c.600A>C|p.Thr200Thr|869/2657|600/1890|200/629||,C|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|7/16|c.834A>C|p.Thr278Thr|948/3670|834/1917|278/638||,C|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|6/15|c.771A>C|p.Thr257Thr|1086/3462|771/1854|257/617||,C|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000462625|retained_intron||n.*1042A>C|||||3725|,C|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000425203|protein_coding||c.*606A>C|||||4287|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|2/11|c.117-3175A>C||||||,C|non_coding_exon_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000465937|retained_intron|4/5|n.744A>C|||||| 22 31662010 . C T . . ANN=T|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|7/15|c.870C>T|p.Arg290Arg|1100/2789|870/2061|290/686||,T|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|7/15|c.699C>T|p.Arg233Arg|968/2657|699/1890|233/629||,T|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|3/12|c.195C>T|p.Arg65Arg|325/2863|195/1179|65/392||,T|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|8/16|c.933C>T|p.Arg311Arg|1047/3670|933/1917|311/638||,T|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|7/15|c.870C>T|p.Arg290Arg|1185/3462|870/1854|290/617||,T|non_coding_exon_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000465937|retained_intron|5/5|n.843C>T|||||| 22 31663018 . C A . . ANN=A|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|8/15|c.1027C>A|p.Arg343Arg|1257/2789|1027/2061|343/686||,A|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|8/15|c.856C>A|p.Arg286Arg|1125/2657|856/1890|286/629||,A|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|4/12|c.352C>A|p.Arg118Arg|482/2863|352/1179|118/392||,A|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|9/16|c.1090C>A|p.Arg364Arg|1204/3670|1090/1917|364/638||,A|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|8/15|c.1027C>A|p.Arg343Arg|1342/3462|1027/1854|343/617||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|16/16|c.1090C>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|8/16|c.1090C>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|14/16|c.1090C>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|10/16|c.1090C>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|11/16|c.1090C>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|9/16|c.1090C>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|15/16|c.1090C>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|13/16|c.1090C>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|12/16|c.1090C>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|7/15|c.1027C>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|13/15|c.1027C>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|9/15|c.1027C>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|10/15|c.1027C>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|8/15|c.1027C>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|14/15|c.1027C>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|12/15|c.1027C>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|11/15|c.1027C>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|15/15|c.1027C>A||||||,A|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000465937|retained_intron||n.*951C>A|||||900| 22 31663066 . T C . . ANN=C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|16/16|c.1128+10T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|8/16|c.1128+10T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|14/16|c.1128+10T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|10/16|c.1128+10T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|11/16|c.1128+10T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|9/16|c.1128+10T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|15/16|c.1128+10T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|13/16|c.1128+10T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|12/16|c.1128+10T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|7/15|c.1065+10T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|13/15|c.1065+10T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|9/15|c.1065+10T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|10/15|c.1065+10T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|8/15|c.1065+10T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|14/15|c.1065+10T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|12/15|c.1065+10T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|11/15|c.1065+10T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|15/15|c.1065+10T>C||||||,C|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000465937|retained_intron||n.*951T>C|||||948|,C|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|8/14|c.1065+10T>C||||||,C|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|8/14|c.894+10T>C||||||,C|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|4/11|c.390+10T>C||||||,C|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|9/15|c.1128+10T>C||||||,C|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|8/14|c.1065+10T>C|||||| 22 31663842 . C G . . ANN=G|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|9/15|c.1146C>G|p.Leu382Leu|1376/2789|1146/2061|382/686||,G|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|9/15|c.975C>G|p.Leu325Leu|1244/2657|975/1890|325/629||,G|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|5/12|c.471C>G|p.Leu157Leu|601/2863|471/1179|157/392||,G|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|10/16|c.1209C>G|p.Leu403Leu|1323/3670|1209/1917|403/638||,G|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|9/15|c.1146C>G|p.Leu382Leu|1461/3462|1146/1854|382/617||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|16/16|c.1209C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|8/16|c.1209C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|14/16|c.1209C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|10/16|c.1209C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|11/16|c.1209C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|9/16|c.1209C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|15/16|c.1209C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|13/16|c.1209C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|12/16|c.1209C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|7/15|c.1146C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|13/15|c.1146C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|9/15|c.1146C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|10/15|c.1146C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|8/15|c.1146C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|14/15|c.1146C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|12/15|c.1146C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|11/15|c.1146C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|15/15|c.1146C>G||||||,G|upstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000482270|retained_intron||n.-1C>G|||||4615|,G|upstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000467301|processed_transcript||n.-1C>G|||||4818|,G|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000465937|retained_intron||n.*951C>G|||||1724| 22 31663875 . G A . . ANN=A|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|9/15|c.1179G>A|p.Lys393Lys|1409/2789|1179/2061|393/686||,A|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|9/15|c.1008G>A|p.Lys336Lys|1277/2657|1008/1890|336/629||,A|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|5/12|c.504G>A|p.Lys168Lys|634/2863|504/1179|168/392||,A|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|10/16|c.1242G>A|p.Lys414Lys|1356/3670|1242/1917|414/638||,A|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|9/15|c.1179G>A|p.Lys393Lys|1494/3462|1179/1854|393/617||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|16/16|c.1242G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|8/16|c.1242G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|14/16|c.1242G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|10/16|c.1242G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|11/16|c.1242G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|9/16|c.1242G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|15/16|c.1242G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|13/16|c.1242G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|12/16|c.1242G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|7/15|c.1179G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|13/15|c.1179G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|9/15|c.1179G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|10/15|c.1179G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|8/15|c.1179G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|14/15|c.1179G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|12/15|c.1179G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|11/15|c.1179G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|15/15|c.1179G>A||||||,A|upstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000482270|retained_intron||n.-1G>A|||||4582|,A|upstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000467301|processed_transcript||n.-1G>A|||||4785|,A|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000465937|retained_intron||n.*951G>A|||||1757| 22 31663885 . C T . . ANN=T|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|9/15|c.1189C>T|p.Arg397Cys|1419/2789|1189/2061|397/686||,T|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|9/15|c.1018C>T|p.Arg340Cys|1287/2657|1018/1890|340/629||,T|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|5/12|c.514C>T|p.Arg172Cys|644/2863|514/1179|172/392||,T|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|10/16|c.1252C>T|p.Arg418Cys|1366/3670|1252/1917|418/638||,T|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|9/15|c.1189C>T|p.Arg397Cys|1504/3462|1189/1854|397/617||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|16/16|c.1252C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|8/16|c.1252C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|14/16|c.1252C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|10/16|c.1252C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|11/16|c.1252C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|9/16|c.1252C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|15/16|c.1252C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|13/16|c.1252C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|12/16|c.1252C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|7/15|c.1189C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|13/15|c.1189C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|9/15|c.1189C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|10/15|c.1189C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|8/15|c.1189C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|14/15|c.1189C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|12/15|c.1189C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|11/15|c.1189C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|15/15|c.1189C>T||||||,T|upstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000482270|retained_intron||n.-1C>T|||||4572|,T|upstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000467301|processed_transcript||n.-1C>T|||||4775|,T|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000465937|retained_intron||n.*951C>T|||||1767| 22 31663927 . T C . . ANN=C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|16/16|c.1260+34T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|8/16|c.1260+34T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|14/16|c.1260+34T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|10/16|c.1260+34T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|11/16|c.1260+34T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|9/16|c.1260+34T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|15/16|c.1260+34T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|13/16|c.1260+34T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|12/16|c.1260+34T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|7/15|c.1197+34T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|13/15|c.1197+34T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|9/15|c.1197+34T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|10/15|c.1197+34T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|8/15|c.1197+34T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|14/15|c.1197+34T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|12/15|c.1197+34T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|11/15|c.1197+34T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|15/15|c.1197+34T>C||||||,C|upstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000482270|retained_intron||n.-1T>C|||||4530|,C|upstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000467301|processed_transcript||n.-1T>C|||||4733|,C|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000465937|retained_intron||n.*951T>C|||||1809|,C|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|9/14|c.1197+34T>C||||||,C|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|9/14|c.1026+34T>C||||||,C|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|5/11|c.522+34T>C||||||,C|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|10/15|c.1260+34T>C||||||,C|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|9/14|c.1197+34T>C|||||| 22 31664080 . C T . . ANN=T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|16/16|c.1261-50C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|8/16|c.1261-50C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|14/16|c.1261-50C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|10/16|c.1261-50C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|11/16|c.1261-50C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|9/16|c.1261-50C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|15/16|c.1261-50C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|13/16|c.1261-50C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|12/16|c.1261-50C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|7/15|c.1198-50C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|13/15|c.1198-50C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|9/15|c.1198-50C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|10/15|c.1198-50C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|8/15|c.1198-50C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|14/15|c.1198-50C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|12/15|c.1198-50C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|11/15|c.1198-50C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|15/15|c.1198-50C>T||||||,T|upstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000482270|retained_intron||n.-1C>T|||||4377|,T|upstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000467301|processed_transcript||n.-1C>T|||||4580|,T|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000465937|retained_intron||n.*951C>T|||||1962|,T|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|9/14|c.1198-50C>T||||||,T|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|9/14|c.1027-50C>T||||||,T|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|5/11|c.523-50C>T||||||,T|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|10/15|c.1261-50C>T||||||,T|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|9/14|c.1198-50C>T|||||| 22 31664090 . A T . . ANN=T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|16/16|c.1261-40A>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|8/16|c.1261-40A>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|14/16|c.1261-40A>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|10/16|c.1261-40A>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|11/16|c.1261-40A>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|9/16|c.1261-40A>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|15/16|c.1261-40A>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|13/16|c.1261-40A>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|12/16|c.1261-40A>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|7/15|c.1198-40A>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|13/15|c.1198-40A>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|9/15|c.1198-40A>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|10/15|c.1198-40A>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|8/15|c.1198-40A>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|14/15|c.1198-40A>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|12/15|c.1198-40A>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|11/15|c.1198-40A>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|15/15|c.1198-40A>T||||||,T|upstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000482270|retained_intron||n.-1A>T|||||4367|,T|upstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000467301|processed_transcript||n.-1A>T|||||4570|,T|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000465937|retained_intron||n.*951A>T|||||1972|,T|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|9/14|c.1198-40A>T||||||,T|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|9/14|c.1027-40A>T||||||,T|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|5/11|c.523-40A>T||||||,T|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|10/15|c.1261-40A>T||||||,T|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|9/14|c.1198-40A>T|||||| 22 31664108 . A C . . ANN=C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|16/16|c.1261-22A>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|8/16|c.1261-22A>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|14/16|c.1261-22A>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|10/16|c.1261-22A>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|11/16|c.1261-22A>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|9/16|c.1261-22A>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|15/16|c.1261-22A>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|13/16|c.1261-22A>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|12/16|c.1261-22A>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|7/15|c.1198-22A>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|13/15|c.1198-22A>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|9/15|c.1198-22A>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|10/15|c.1198-22A>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|8/15|c.1198-22A>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|14/15|c.1198-22A>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|12/15|c.1198-22A>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|11/15|c.1198-22A>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|15/15|c.1198-22A>C||||||,C|upstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000482270|retained_intron||n.-1A>C|||||4349|,C|upstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000467301|processed_transcript||n.-1A>C|||||4552|,C|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000465937|retained_intron||n.*951A>C|||||1990|,C|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|9/14|c.1198-22A>C||||||,C|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|9/14|c.1027-22A>C||||||,C|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|5/11|c.523-22A>C||||||,C|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|10/15|c.1261-22A>C||||||,C|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|9/14|c.1198-22A>C|||||| 22 31664174 . C T . . ANN=T|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|10/15|c.1242C>T|p.Ile414Ile|1472/2789|1242/2061|414/686||,T|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|10/15|c.1071C>T|p.Ile357Ile|1340/2657|1071/1890|357/629||,T|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|6/12|c.567C>T|p.Ile189Ile|697/2863|567/1179|189/392||,T|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|11/16|c.1305C>T|p.Ile435Ile|1419/3670|1305/1917|435/638||,T|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|10/15|c.1242C>T|p.Ile414Ile|1557/3462|1242/1854|414/617||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|16/16|c.1305C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|8/16|c.1305C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|14/16|c.1305C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|10/16|c.1305C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|11/16|c.1305C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|9/16|c.1305C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|15/16|c.1305C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|13/16|c.1305C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|12/16|c.1305C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|7/15|c.1242C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|13/15|c.1242C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|9/15|c.1242C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|10/15|c.1242C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|8/15|c.1242C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|14/15|c.1242C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|12/15|c.1242C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|11/15|c.1242C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|15/15|c.1242C>T||||||,T|upstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000482270|retained_intron||n.-1C>T|||||4283|,T|upstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000467301|processed_transcript||n.-1C>T|||||4486|,T|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000465937|retained_intron||n.*951C>T|||||2056| 22 31664213 . C A . . ANN=A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|16/16|c.1317+27C>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|8/16|c.1317+27C>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|14/16|c.1317+27C>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|10/16|c.1317+27C>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|11/16|c.1317+27C>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|9/16|c.1317+27C>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|15/16|c.1317+27C>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|13/16|c.1317+27C>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|12/16|c.1317+27C>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|7/15|c.1254+27C>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|13/15|c.1254+27C>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|9/15|c.1254+27C>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|10/15|c.1254+27C>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|8/15|c.1254+27C>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|14/15|c.1254+27C>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|12/15|c.1254+27C>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|11/15|c.1254+27C>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|15/15|c.1254+27C>A||||||,A|upstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000482270|retained_intron||n.-1C>A|||||4244|,A|upstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000467301|processed_transcript||n.-1C>A|||||4447|,A|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000465937|retained_intron||n.*951C>A|||||2095|,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|10/14|c.1254+27C>A||||||,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|10/14|c.1083+27C>A||||||,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|6/11|c.579+27C>A||||||,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|11/15|c.1317+27C>A||||||,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|10/14|c.1254+27C>A|||||| 22 31664233 . G A . . ANN=A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|16/16|c.1317+47G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|8/16|c.1317+47G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|14/16|c.1317+47G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|10/16|c.1317+47G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|11/16|c.1317+47G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|9/16|c.1317+47G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|15/16|c.1317+47G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|13/16|c.1317+47G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|12/16|c.1317+47G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|7/15|c.1254+47G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|13/15|c.1254+47G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|9/15|c.1254+47G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|10/15|c.1254+47G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|8/15|c.1254+47G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|14/15|c.1254+47G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|12/15|c.1254+47G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|11/15|c.1254+47G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|15/15|c.1254+47G>A||||||,A|upstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000482270|retained_intron||n.-1G>A|||||4224|,A|upstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000467301|processed_transcript||n.-1G>A|||||4427|,A|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000465937|retained_intron||n.*951G>A|||||2115|,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|10/14|c.1254+47G>A||||||,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|10/14|c.1083+47G>A||||||,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|6/11|c.579+47G>A||||||,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|11/15|c.1317+47G>A||||||,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|10/14|c.1254+47G>A|||||| 22 31664234 . T C . . ANN=C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|16/16|c.1317+48T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|8/16|c.1317+48T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|14/16|c.1317+48T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|10/16|c.1317+48T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|11/16|c.1317+48T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|9/16|c.1317+48T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|15/16|c.1317+48T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|13/16|c.1317+48T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|12/16|c.1317+48T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|7/15|c.1254+48T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|13/15|c.1254+48T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|9/15|c.1254+48T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|10/15|c.1254+48T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|8/15|c.1254+48T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|14/15|c.1254+48T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|12/15|c.1254+48T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|11/15|c.1254+48T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|15/15|c.1254+48T>C||||||,C|upstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000482270|retained_intron||n.-1T>C|||||4223|,C|upstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000467301|processed_transcript||n.-1T>C|||||4426|,C|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000465937|retained_intron||n.*951T>C|||||2116|,C|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|10/14|c.1254+48T>C||||||,C|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|10/14|c.1083+48T>C||||||,C|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|6/11|c.579+48T>C||||||,C|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|11/15|c.1317+48T>C||||||,C|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|10/14|c.1254+48T>C|||||| 22 31667166 . G A . . ANN=A|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|11/15|c.1299G>A|p.Ser433Ser|1529/2789|1299/2061|433/686||,A|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|11/15|c.1128G>A|p.Ser376Ser|1397/2657|1128/1890|376/629||,A|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|7/12|c.624G>A|p.Ser208Ser|754/2863|624/1179|208/392||,A|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|12/16|c.1362G>A|p.Ser454Ser|1476/3670|1362/1917|454/638||,A|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|11/15|c.1299G>A|p.Ser433Ser|1614/3462|1299/1854|433/617||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|16/16|c.1362G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|8/16|c.1362G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|14/16|c.1362G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|10/16|c.1362G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|11/16|c.1362G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|9/16|c.1362G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|15/16|c.1362G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|13/16|c.1362G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|12/16|c.1362G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|7/15|c.1299G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|13/15|c.1299G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|9/15|c.1299G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|10/15|c.1299G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|8/15|c.1299G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|14/15|c.1299G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|12/15|c.1299G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|11/15|c.1299G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|15/15|c.1299G>A||||||,A|upstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000482270|retained_intron||n.-1G>A|||||1291|,A|upstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000467301|processed_transcript||n.-1G>A|||||1494| 22 31668720 . C T . . ANN=T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|16/16|c.1558+30C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|8/16|c.1558+30C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|14/16|c.1558+30C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|10/16|c.1558+30C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|11/16|c.1558+30C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|9/16|c.1558+30C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|15/16|c.1558+30C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|13/16|c.1558+30C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|12/16|c.1558+30C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|7/15|c.1495+30C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|13/15|c.1495+30C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|9/15|c.1495+30C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|10/15|c.1495+30C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|8/15|c.1495+30C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|14/15|c.1495+30C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|12/15|c.1495+30C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|11/15|c.1495+30C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|15/15|c.1495+30C>T||||||,T|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|12/14|c.1495+30C>T||||||,T|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|12/14|c.1324+30C>T||||||,T|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|8/11|c.820+30C>T||||||,T|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|13/15|c.1558+30C>T||||||,T|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|12/14|c.1495+30C>T||||||,T|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000482270|retained_intron|1/2|n.234+30C>T||||||,T|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000467301|processed_transcript|1/4|n.31+30C>T|||||| 22 31668721 . G A . . ANN=A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|16/16|c.1558+31G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|8/16|c.1558+31G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|14/16|c.1558+31G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|10/16|c.1558+31G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|11/16|c.1558+31G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|9/16|c.1558+31G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|15/16|c.1558+31G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|13/16|c.1558+31G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|12/16|c.1558+31G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|7/15|c.1495+31G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|13/15|c.1495+31G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|9/15|c.1495+31G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|10/15|c.1495+31G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|8/15|c.1495+31G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|14/15|c.1495+31G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|12/15|c.1495+31G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|11/15|c.1495+31G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|15/15|c.1495+31G>A||||||,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|12/14|c.1495+31G>A||||||,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|12/14|c.1324+31G>A||||||,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|8/11|c.820+31G>A||||||,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|13/15|c.1558+31G>A||||||,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|12/14|c.1495+31G>A||||||,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000482270|retained_intron|1/2|n.234+31G>A||||||,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000467301|processed_transcript|1/4|n.31+31G>A|||||| 22 31671123 . T G . . ANN=G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|16/16|c.1615-14T>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|8/16|c.1615-14T>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|14/16|c.1615-14T>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|10/16|c.1615-14T>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|11/16|c.1615-14T>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|9/16|c.1615-14T>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|15/16|c.1615-14T>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|13/16|c.1615-14T>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|12/16|c.1615-14T>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|7/15|c.1552-14T>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|13/15|c.1552-14T>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|9/15|c.1552-14T>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|10/15|c.1552-14T>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|8/15|c.1552-14T>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|14/15|c.1552-14T>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|12/15|c.1552-14T>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|11/15|c.1552-14T>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|15/15|c.1552-14T>G||||||,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|13/14|c.1552-14T>G||||||,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|13/14|c.1381-14T>G||||||,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|9/11|c.877-14T>G||||||,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|14/15|c.1615-14T>G||||||,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|13/14|c.1552-14T>G||||||,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000482270|retained_intron|2/2|n.291-14T>G||||||,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000467301|processed_transcript|3/4|n.160-14T>G|||||| 22 31671190 . T C . . ANN=C|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|14/15|c.1605T>C|p.Phe535Phe|1835/2789|1605/2061|535/686||,C|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|14/15|c.1434T>C|p.Phe478Phe|1703/2657|1434/1890|478/629||,C|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|10/12|c.930T>C|p.Phe310Phe|1060/2863|930/1179|310/392||,C|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|15/16|c.1668T>C|p.Phe556Phe|1782/3670|1668/1917|556/638||,C|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|14/15|c.1605T>C|p.Phe535Phe|1920/3462|1605/1854|535/617||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|16/16|c.1668T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|8/16|c.1668T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|14/16|c.1668T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|10/16|c.1668T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|11/16|c.1668T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|9/16|c.1668T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|15/16|c.1668T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|13/16|c.1668T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|12/16|c.1668T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|7/15|c.1605T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|13/15|c.1605T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|9/15|c.1605T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|10/15|c.1605T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|8/15|c.1605T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|14/15|c.1605T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|12/15|c.1605T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|11/15|c.1605T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|15/15|c.1605T>C||||||,C|non_coding_exon_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000482270|retained_intron|3/3|n.344T>C||||||,C|non_coding_exon_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000467301|processed_transcript|4/5|n.213T>C|||||| 22 31671256 . G T . . ANN=T|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|14/15|c.1671G>T|p.Pro557Pro|1901/2789|1671/2061|557/686||,T|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|14/15|c.1500G>T|p.Pro500Pro|1769/2657|1500/1890|500/629||,T|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|10/12|c.996G>T|p.Pro332Pro|1126/2863|996/1179|332/392||,T|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|15/16|c.1734G>T|p.Pro578Pro|1848/3670|1734/1917|578/638||,T|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|14/15|c.1671G>T|p.Pro557Pro|1986/3462|1671/1854|557/617||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|16/16|c.1734G>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|8/16|c.1734G>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|14/16|c.1734G>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|10/16|c.1734G>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|11/16|c.1734G>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|9/16|c.1734G>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|15/16|c.1734G>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|13/16|c.1734G>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|12/16|c.1734G>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|7/15|c.1671G>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|13/15|c.1671G>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|9/15|c.1671G>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|10/15|c.1671G>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|8/15|c.1671G>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|14/15|c.1671G>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|12/15|c.1671G>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|11/15|c.1671G>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|15/15|c.1671G>T||||||,T|non_coding_exon_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000482270|retained_intron|3/3|n.410G>T||||||,T|non_coding_exon_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000467301|processed_transcript|4/5|n.279G>T|||||| 22 31672752 . A C . . ANN=C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|16/16|c.1772+1458A>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|8/16|c.1772+1458A>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|14/16|c.1772+1458A>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|10/16|c.1772+1458A>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|11/16|c.1772+1458A>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|9/16|c.1772+1458A>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|15/16|c.1772+1458A>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|13/16|c.1772+1458A>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|12/16|c.1772+1458A>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|7/15|c.1709+1458A>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|13/15|c.1709+1458A>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|9/15|c.1709+1458A>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|10/15|c.1709+1458A>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|8/15|c.1709+1458A>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|14/15|c.1709+1458A>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|12/15|c.1709+1458A>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|11/15|c.1709+1458A>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|15/15|c.1709+1458A>C||||||,C|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000215912|protein_coding||c.*976T>G|||||4827|,C|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000482270|retained_intron||n.*805A>C|||||1101|,C|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000480654|retained_intron||n.*3030T>G|||||4828|,C|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000441972|protein_coding||c.*712T>G|||||4847|,C|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000493034|retained_intron||n.*2684T>G|||||4913|,C|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|14/14|c.1710-23A>C||||||,C|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|14/14|c.1539-23A>C||||||,C|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|10/11|c.1034+1458A>C||||||,C|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|15/15|c.1772+1458A>C||||||,C|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|14/14|c.1709+1458A>C||||||,C|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000467301|processed_transcript|4/4|n.317+1458A>C|||||| 22 31672754 . G A . . ANN=A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|16/16|c.1772+1460G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|8/16|c.1772+1460G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|14/16|c.1772+1460G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|10/16|c.1772+1460G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|11/16|c.1772+1460G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|9/16|c.1772+1460G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|15/16|c.1772+1460G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|13/16|c.1772+1460G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|12/16|c.1772+1460G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|7/15|c.1709+1460G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|13/15|c.1709+1460G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|9/15|c.1709+1460G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|10/15|c.1709+1460G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|8/15|c.1709+1460G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|14/15|c.1709+1460G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|12/15|c.1709+1460G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|11/15|c.1709+1460G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|15/15|c.1709+1460G>A||||||,A|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000215912|protein_coding||c.*976C>T|||||4825|,A|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000482270|retained_intron||n.*805G>A|||||1103|,A|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000480654|retained_intron||n.*3030C>T|||||4826|,A|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000441972|protein_coding||c.*712C>T|||||4845|,A|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000493034|retained_intron||n.*2684C>T|||||4911|,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|14/14|c.1710-21G>A||||||,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|14/14|c.1539-21G>A||||||,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|10/11|c.1034+1460G>A||||||,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|15/15|c.1772+1460G>A||||||,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|14/14|c.1709+1460G>A||||||,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000467301|processed_transcript|4/4|n.317+1460G>A|||||| 22 31672761 . G C . . ANN=C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|16/16|c.1772+1467G>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|8/16|c.1772+1467G>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|14/16|c.1772+1467G>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|10/16|c.1772+1467G>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|11/16|c.1772+1467G>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|9/16|c.1772+1467G>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|15/16|c.1772+1467G>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|13/16|c.1772+1467G>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|12/16|c.1772+1467G>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|7/15|c.1709+1467G>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|13/15|c.1709+1467G>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|9/15|c.1709+1467G>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|10/15|c.1709+1467G>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|8/15|c.1709+1467G>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|14/15|c.1709+1467G>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|12/15|c.1709+1467G>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|11/15|c.1709+1467G>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|15/15|c.1709+1467G>C||||||,C|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000215912|protein_coding||c.*976C>G|||||4818|,C|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000482270|retained_intron||n.*805G>C|||||1110|,C|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000480654|retained_intron||n.*3030C>G|||||4819|,C|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000441972|protein_coding||c.*712C>G|||||4838|,C|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000493034|retained_intron||n.*2684C>G|||||4904|,C|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|14/14|c.1710-14G>C||||||,C|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|14/14|c.1539-14G>C||||||,C|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|10/11|c.1034+1467G>C||||||,C|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|15/15|c.1772+1467G>C||||||,C|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|14/14|c.1709+1467G>C||||||,C|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000467301|processed_transcript|4/4|n.317+1467G>C|||||| 22 31672776 . G GC . . ANN=C|frameshift_variant|HIGH|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|15/15|c.1719dupC|p.Gly574fs|1950/2789|1720/2061|574/686||INFO_REALIGN_3_PRIME,C|frameshift_variant|HIGH|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|15/15|c.1548dupC|p.Gly517fs|1818/2657|1549/1890|517/629||INFO_REALIGN_3_PRIME,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|16/16|c.1772+1482_1772+1483insC||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|8/16|c.1772+1482_1772+1483insC||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|14/16|c.1772+1482_1772+1483insC||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|10/16|c.1772+1482_1772+1483insC||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|11/16|c.1772+1482_1772+1483insC||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|9/16|c.1772+1482_1772+1483insC||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|15/16|c.1772+1482_1772+1483insC||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|13/16|c.1772+1482_1772+1483insC||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|12/16|c.1772+1482_1772+1483insC||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|7/15|c.1709+1482_1709+1483insC||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|13/15|c.1709+1482_1709+1483insC||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|9/15|c.1709+1482_1709+1483insC||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|10/15|c.1709+1482_1709+1483insC||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|8/15|c.1709+1482_1709+1483insC||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|14/15|c.1709+1482_1709+1483insC||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|12/15|c.1709+1482_1709+1483insC||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|11/15|c.1709+1482_1709+1483insC||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|15/15|c.1709+1482_1709+1483insC||||||,C|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000215912|protein_coding||c.*976dupG|||||4802|,C|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000482270|retained_intron||n.*805_*805insC|||||1126|,C|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000480654|retained_intron||n.*3030dupG|||||4803|,C|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000441972|protein_coding||c.*712dupG|||||4822|,C|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000493034|retained_intron||n.*2684dupG|||||4888|,C|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|10/11|c.1034+1490dupC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|15/15|c.1772+1490dupC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|14/14|c.1709+1490dupC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000467301|processed_transcript|4/4|n.317+1490dupC||||||INFO_REALIGN_3_PRIME;LOF=(LIMK2|ENSG00000182541|10|0.20) 22 31672782 . C T . . ANN=T|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|15/15|c.1717C>T|p.Pro573Ser|1947/2789|1717/2061|573/686||,T|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|15/15|c.1546C>T|p.Pro516Ser|1815/2657|1546/1890|516/629||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|16/16|c.1772+1488C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|8/16|c.1772+1488C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|14/16|c.1772+1488C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|10/16|c.1772+1488C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|11/16|c.1772+1488C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|9/16|c.1772+1488C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|15/16|c.1772+1488C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|13/16|c.1772+1488C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|12/16|c.1772+1488C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|7/15|c.1709+1488C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|13/15|c.1709+1488C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|9/15|c.1709+1488C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|10/15|c.1709+1488C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|8/15|c.1709+1488C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|14/15|c.1709+1488C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|12/15|c.1709+1488C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|11/15|c.1709+1488C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|15/15|c.1709+1488C>T||||||,T|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000215912|protein_coding||c.*976G>A|||||4797|,T|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000482270|retained_intron||n.*805C>T|||||1131|,T|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000480654|retained_intron||n.*3030G>A|||||4798|,T|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000441972|protein_coding||c.*712G>A|||||4817|,T|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000493034|retained_intron||n.*2684G>A|||||4883|,T|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|10/11|c.1034+1488C>T||||||,T|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|15/15|c.1772+1488C>T||||||,T|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|14/14|c.1709+1488C>T||||||,T|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000467301|processed_transcript|4/4|n.317+1488C>T|||||| 22 31672837 . G A . . ANN=A|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|15/15|c.1772G>A|p.Arg591His|2002/2789|1772/2061|591/686||,A|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|15/15|c.1601G>A|p.Arg534His|1870/2657|1601/1890|534/629||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|16/16|c.1773-1446G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|8/16|c.1773-1446G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|14/16|c.1773-1446G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|10/16|c.1773-1446G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|11/16|c.1773-1446G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|9/16|c.1773-1446G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|15/16|c.1773-1446G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|13/16|c.1773-1446G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|12/16|c.1773-1446G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|7/15|c.1710-1446G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|13/15|c.1710-1446G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|9/15|c.1710-1446G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|10/15|c.1710-1446G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|8/15|c.1710-1446G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|14/15|c.1710-1446G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|12/15|c.1710-1446G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|11/15|c.1710-1446G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|15/15|c.1710-1446G>A||||||,A|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000215912|protein_coding||c.*976C>T|||||4742|,A|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000482270|retained_intron||n.*805G>A|||||1186|,A|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000480654|retained_intron||n.*3030C>T|||||4743|,A|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000441972|protein_coding||c.*712C>T|||||4762|,A|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000493034|retained_intron||n.*2684C>T|||||4828|,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|10/11|c.1035-1446G>A||||||,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|15/15|c.1773-1446G>A||||||,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|14/14|c.1710-1446G>A||||||,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000467301|processed_transcript|4/4|n.318-1446G>A|||||| 22 31672933 . A G . . ANN=G|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|15/15|c.1868A>G|p.Asp623Gly|2098/2789|1868/2061|623/686||,G|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|15/15|c.1697A>G|p.Asp566Gly|1966/2657|1697/1890|566/629||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|16/16|c.1773-1350A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|8/16|c.1773-1350A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|14/16|c.1773-1350A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|10/16|c.1773-1350A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|11/16|c.1773-1350A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|9/16|c.1773-1350A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|15/16|c.1773-1350A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|13/16|c.1773-1350A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|12/16|c.1773-1350A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|7/15|c.1710-1350A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|13/15|c.1710-1350A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|9/15|c.1710-1350A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|10/15|c.1710-1350A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|8/15|c.1710-1350A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|14/15|c.1710-1350A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|12/15|c.1710-1350A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|11/15|c.1710-1350A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|15/15|c.1710-1350A>G||||||,G|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000215912|protein_coding||c.*976T>C|||||4646|,G|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000482270|retained_intron||n.*805A>G|||||1282|,G|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000480654|retained_intron||n.*3030T>C|||||4647|,G|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000441972|protein_coding||c.*712T>C|||||4666|,G|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000493034|retained_intron||n.*2684T>C|||||4732|,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|10/11|c.1035-1350A>G||||||,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|15/15|c.1773-1350A>G||||||,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|14/14|c.1710-1350A>G||||||,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000467301|processed_transcript|4/4|n.318-1350A>G|||||| 22 31673092 . C T . . ANN=T|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|15/15|c.2027C>T|p.Ala676Val|2257/2789|2027/2061|676/686||,T|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|15/15|c.1856C>T|p.Ala619Val|2125/2657|1856/1890|619/629||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|16/16|c.1773-1191C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|8/16|c.1773-1191C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|14/16|c.1773-1191C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|10/16|c.1773-1191C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|11/16|c.1773-1191C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|9/16|c.1773-1191C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|15/16|c.1773-1191C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|13/16|c.1773-1191C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|12/16|c.1773-1191C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|7/15|c.1710-1191C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|13/15|c.1710-1191C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|9/15|c.1710-1191C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|10/15|c.1710-1191C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|8/15|c.1710-1191C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|14/15|c.1710-1191C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|12/15|c.1710-1191C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|11/15|c.1710-1191C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|15/15|c.1710-1191C>T||||||,T|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000215912|protein_coding||c.*976G>A|||||4487|,T|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000482270|retained_intron||n.*805C>T|||||1441|,T|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000480654|retained_intron||n.*3030G>A|||||4488|,T|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000441972|protein_coding||c.*712G>A|||||4507|,T|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000493034|retained_intron||n.*2684G>A|||||4573|,T|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|10/11|c.1035-1191C>T||||||,T|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|15/15|c.1773-1191C>T||||||,T|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|14/14|c.1710-1191C>T||||||,T|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000467301|processed_transcript|4/4|n.318-1191C>T|||||| 22 31673111 . A G . . ANN=G|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|15/15|c.2046A>G|p.Thr682Thr|2276/2789|2046/2061|682/686||,G|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|15/15|c.1875A>G|p.Thr625Thr|2144/2657|1875/1890|625/629||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|16/16|c.1773-1172A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|8/16|c.1773-1172A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|14/16|c.1773-1172A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|10/16|c.1773-1172A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|11/16|c.1773-1172A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|9/16|c.1773-1172A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|15/16|c.1773-1172A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|13/16|c.1773-1172A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|12/16|c.1773-1172A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|7/15|c.1710-1172A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|13/15|c.1710-1172A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|9/15|c.1710-1172A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|10/15|c.1710-1172A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|8/15|c.1710-1172A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|14/15|c.1710-1172A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|12/15|c.1710-1172A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|11/15|c.1710-1172A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|15/15|c.1710-1172A>G||||||,G|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000215912|protein_coding||c.*976T>C|||||4468|,G|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000482270|retained_intron||n.*805A>G|||||1460|,G|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000480654|retained_intron||n.*3030T>C|||||4469|,G|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000441972|protein_coding||c.*712T>C|||||4488|,G|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000493034|retained_intron||n.*2684T>C|||||4554|,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|10/11|c.1035-1172A>G||||||,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|15/15|c.1773-1172A>G||||||,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|14/14|c.1710-1172A>G||||||,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000467301|processed_transcript|4/4|n.318-1172A>G|||||| 22 31673116 . A G . . ANN=G|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|15/15|c.2051A>G|p.Gln684Arg|2281/2789|2051/2061|684/686||,G|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|15/15|c.1880A>G|p.Gln627Arg|2149/2657|1880/1890|627/629||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|16/16|c.1773-1167A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|8/16|c.1773-1167A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|14/16|c.1773-1167A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|10/16|c.1773-1167A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|11/16|c.1773-1167A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|9/16|c.1773-1167A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|15/16|c.1773-1167A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|13/16|c.1773-1167A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|12/16|c.1773-1167A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|7/15|c.1710-1167A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|13/15|c.1710-1167A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|9/15|c.1710-1167A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|10/15|c.1710-1167A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|8/15|c.1710-1167A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|14/15|c.1710-1167A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|12/15|c.1710-1167A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|11/15|c.1710-1167A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|15/15|c.1710-1167A>G||||||,G|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000215912|protein_coding||c.*976T>C|||||4463|,G|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000482270|retained_intron||n.*805A>G|||||1465|,G|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000480654|retained_intron||n.*3030T>C|||||4464|,G|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000441972|protein_coding||c.*712T>C|||||4483|,G|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000493034|retained_intron||n.*2684T>C|||||4549|,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|10/11|c.1035-1167A>G||||||,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|15/15|c.1773-1167A>G||||||,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|14/14|c.1710-1167A>G||||||,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000467301|processed_transcript|4/4|n.318-1167A>G|||||| 22 31673119 . A G . . ANN=G|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|15/15|c.2054A>G|p.Lys685Arg|2284/2789|2054/2061|685/686||,G|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|15/15|c.1883A>G|p.Lys628Arg|2152/2657|1883/1890|628/629||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|16/16|c.1773-1164A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|8/16|c.1773-1164A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|14/16|c.1773-1164A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|10/16|c.1773-1164A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|11/16|c.1773-1164A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|9/16|c.1773-1164A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|15/16|c.1773-1164A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|13/16|c.1773-1164A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|12/16|c.1773-1164A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|7/15|c.1710-1164A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|13/15|c.1710-1164A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|9/15|c.1710-1164A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|10/15|c.1710-1164A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|8/15|c.1710-1164A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|14/15|c.1710-1164A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|12/15|c.1710-1164A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|11/15|c.1710-1164A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|15/15|c.1710-1164A>G||||||,G|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000215912|protein_coding||c.*976T>C|||||4460|,G|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000482270|retained_intron||n.*805A>G|||||1468|,G|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000480654|retained_intron||n.*3030T>C|||||4461|,G|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000441972|protein_coding||c.*712T>C|||||4480|,G|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000493034|retained_intron||n.*2684T>C|||||4546|,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|10/11|c.1035-1164A>G||||||,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|15/15|c.1773-1164A>G||||||,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|14/14|c.1710-1164A>G||||||,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000467301|processed_transcript|4/4|n.318-1164A>G|||||| 22 31673172 . A G . . ANN=G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|16/16|c.1773-1111A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|8/16|c.1773-1111A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|14/16|c.1773-1111A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|10/16|c.1773-1111A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|11/16|c.1773-1111A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|9/16|c.1773-1111A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|15/16|c.1773-1111A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|13/16|c.1773-1111A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|12/16|c.1773-1111A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|7/15|c.1710-1111A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|13/15|c.1710-1111A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|9/15|c.1710-1111A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|10/15|c.1710-1111A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|8/15|c.1710-1111A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|14/15|c.1710-1111A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|12/15|c.1710-1111A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|11/15|c.1710-1111A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|15/15|c.1710-1111A>G||||||,G|3_prime_UTR_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|15/15|c.*46A>G|||||46|,G|3_prime_UTR_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|15/15|c.*46A>G|||||46|,G|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000215912|protein_coding||c.*976T>C|||||4407|,G|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000482270|retained_intron||n.*805A>G|||||1521|,G|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000480654|retained_intron||n.*3030T>C|||||4408|,G|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000441972|protein_coding||c.*712T>C|||||4427|,G|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000493034|retained_intron||n.*2684T>C|||||4493|,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|10/11|c.1035-1111A>G||||||,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|15/15|c.1773-1111A>G||||||,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|14/14|c.1710-1111A>G||||||,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000467301|processed_transcript|4/4|n.318-1111A>G|||||| 22 31673173 . C A . . ANN=A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|16/16|c.1773-1110C>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|8/16|c.1773-1110C>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|14/16|c.1773-1110C>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|10/16|c.1773-1110C>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|11/16|c.1773-1110C>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|9/16|c.1773-1110C>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|15/16|c.1773-1110C>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|13/16|c.1773-1110C>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|12/16|c.1773-1110C>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|7/15|c.1710-1110C>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|13/15|c.1710-1110C>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|9/15|c.1710-1110C>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|10/15|c.1710-1110C>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|8/15|c.1710-1110C>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|14/15|c.1710-1110C>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|12/15|c.1710-1110C>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|11/15|c.1710-1110C>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|15/15|c.1710-1110C>A||||||,A|3_prime_UTR_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|15/15|c.*47C>A|||||47|,A|3_prime_UTR_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|15/15|c.*47C>A|||||47|,A|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000215912|protein_coding||c.*976G>T|||||4406|,A|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000482270|retained_intron||n.*805C>A|||||1522|,A|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000480654|retained_intron||n.*3030G>T|||||4407|,A|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000441972|protein_coding||c.*712G>T|||||4426|,A|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000493034|retained_intron||n.*2684G>T|||||4492|,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|10/11|c.1035-1110C>A||||||,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|15/15|c.1773-1110C>A||||||,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|14/14|c.1710-1110C>A||||||,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000467301|processed_transcript|4/4|n.318-1110C>A|||||| 22 31674299 . T C . . ANN=C|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|11/12|c.1051T>C|p.Leu351Leu|1181/2863|1051/1179|351/392||,C|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|16/16|c.1789T>C|p.Leu597Leu|1903/3670|1789/1917|597/638||,C|synonymous_variant|LOW|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|15/15|c.1726T>C|p.Leu576Leu|2041/3462|1726/1854|576/617||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|16/16|c.1789T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|8/16|c.1789T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|14/16|c.1789T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|10/16|c.1789T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|11/16|c.1789T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|9/16|c.1789T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|15/16|c.1789T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|13/16|c.1789T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|12/16|c.1789T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|7/15|c.1726T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|13/15|c.1726T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|9/15|c.1726T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|10/15|c.1726T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|8/15|c.1726T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|14/15|c.1726T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|12/15|c.1726T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|11/15|c.1726T>C||||||,C|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|15/15|c.1726T>C||||||,C|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding||c.*2291T>C|||||675|,C|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000215912|protein_coding||c.*976A>G|||||3280|,C|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding||c.*2159T>C|||||675|,C|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000482270|retained_intron||n.*805T>C|||||2648|,C|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000480654|retained_intron||n.*3030A>G|||||3281|,C|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000441972|protein_coding||c.*712A>G|||||3300|,C|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000493034|retained_intron||n.*2684A>G|||||3366|,C|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000487265|protein_coding||c.*606A>G|||||4627|,C|non_coding_exon_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000467301|processed_transcript|5/5|n.334T>C|||||| 22 31674324 . C G . . ANN=G|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|11/12|c.1076C>G|p.Ser359Cys|1206/2863|1076/1179|359/392||,G|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|16/16|c.1814C>G|p.Ser605Cys|1928/3670|1814/1917|605/638||,G|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|15/15|c.1751C>G|p.Ser584Cys|2066/3462|1751/1854|584/617||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|16/16|c.1814C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|8/16|c.1814C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|14/16|c.1814C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|10/16|c.1814C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|11/16|c.1814C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|9/16|c.1814C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|15/16|c.1814C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|13/16|c.1814C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|12/16|c.1814C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|7/15|c.1751C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|13/15|c.1751C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|9/15|c.1751C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|10/15|c.1751C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|8/15|c.1751C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|14/15|c.1751C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|12/15|c.1751C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|11/15|c.1751C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|15/15|c.1751C>G||||||,G|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding||c.*2291C>G|||||700|,G|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000215912|protein_coding||c.*976G>C|||||3255|,G|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding||c.*2159C>G|||||700|,G|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000482270|retained_intron||n.*805C>G|||||2673|,G|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000480654|retained_intron||n.*3030G>C|||||3256|,G|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000441972|protein_coding||c.*712G>C|||||3275|,G|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000493034|retained_intron||n.*2684G>C|||||3341|,G|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000487265|protein_coding||c.*606G>C|||||4602|,G|non_coding_exon_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000467301|processed_transcript|5/5|n.359C>G|||||| 22 31674447 . AG A . . ANN=|3_prime_UTR_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|11/12|c.*26delG|||||26|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|16/16|c.*26delG|||||26|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|15/15|c.*26delG|||||26|INFO_REALIGN_3_PRIME,|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding||c.*2291delG|||||824|,|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000215912|protein_coding||c.*976delC|||||3131|,|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding||c.*2159delG|||||824|,|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000482270|retained_intron||n.*805delG|||||2797|,|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000480654|retained_intron||n.*3030delC|||||3132|,|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000441972|protein_coding||c.*712delC|||||3151|,|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000493034|retained_intron||n.*2684delC|||||3217|,|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000487265|protein_coding||c.*606delC|||||4478|,|non_coding_exon_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000467301|processed_transcript|5/5|n.488delG||||||INFO_REALIGN_3_PRIME 22 31674453 . G T . . ANN=T|3_prime_UTR_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|11/12|c.*26G>T|||||26|,T|3_prime_UTR_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|16/16|c.*26G>T|||||26|,T|3_prime_UTR_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|15/15|c.*26G>T|||||26|,T|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding||c.*2291G>T|||||829|,T|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000215912|protein_coding||c.*976C>A|||||3126|,T|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding||c.*2159G>T|||||829|,T|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000482270|retained_intron||n.*805G>T|||||2802|,T|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000480654|retained_intron||n.*3030C>A|||||3127|,T|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000441972|protein_coding||c.*712C>A|||||3146|,T|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000493034|retained_intron||n.*2684C>A|||||3212|,T|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000487265|protein_coding||c.*606C>A|||||4473|,T|non_coding_exon_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000467301|processed_transcript|5/5|n.488G>T|||||| 22 31679064 . G T . . ANN=T|3_prime_UTR_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000215912|protein_coding|6/6|c.*6C>A|||||6|,T|3_prime_UTR_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000441972|protein_coding|5/5|c.*197C>A|||||197|,T|3_prime_UTR_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000487265|protein_coding|4/4|c.*6C>A|||||6|,T|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding||c.*1309G>T|||||3007|,T|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding||c.*2031G>T|||||2998|,T|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding||c.*2169G>T|||||3344|,T|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000467301|processed_transcript||n.*607G>T|||||4492|,T|non_coding_exon_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000480654|retained_intron|3/3|n.1546C>A||||||,T|non_coding_exon_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000493034|retained_intron|4/4|n.1285C>A|||||| 22 31679110 . G C . . ANN=C|missense_variant|MODERATE|PIK3IP1|ENSG00000100100|transcript|ENST00000215912|protein_coding|6/6|c.752C>G|p.Thr251Ser|936/2467|752/792|251/263||,C|missense_variant|MODERATE|PIK3IP1|ENSG00000100100|transcript|ENST00000487265|protein_coding|4/4|c.515C>G|p.Thr172Ser|566/750|515/555|172/184||,C|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Cytoplasmic|ENST00000215912|protein_coding|6/6|c.752C>G||||||,C|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Cytoplasmic|ENST00000215912|protein_coding|5/6|c.752C>G||||||,C|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Cytoplasmic|ENST00000487265|protein_coding|4/4|c.515C>G||||||,C|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Cytoplasmic|ENST00000487265|protein_coding|3/4|c.515C>G||||||,C|3_prime_UTR_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000441972|protein_coding|5/5|c.*151C>G|||||151|,C|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding||c.*1309G>C|||||3053|,C|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding||c.*2031G>C|||||3044|,C|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding||c.*2169G>C|||||3390|,C|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000467301|processed_transcript||n.*607G>C|||||4538|,C|non_coding_exon_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000480654|retained_intron|3/3|n.1500C>G||||||,C|non_coding_exon_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000493034|retained_intron|4/4|n.1239C>G|||||| 22 31679211 . A G . . ANN=G|synonymous_variant|LOW|PIK3IP1|ENSG00000100100|transcript|ENST00000215912|protein_coding|6/6|c.651T>C|p.Thr217Thr|835/2467|651/792|217/263||,G|synonymous_variant|LOW|PIK3IP1|ENSG00000100100|transcript|ENST00000487265|protein_coding|4/4|c.414T>C|p.Thr138Thr|465/750|414/555|138/184||,G|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Cytoplasmic|ENST00000215912|protein_coding|6/6|c.651T>C||||||,G|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Cytoplasmic|ENST00000215912|protein_coding|5/6|c.651T>C||||||,G|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Cytoplasmic|ENST00000487265|protein_coding|4/4|c.414T>C||||||,G|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Cytoplasmic|ENST00000487265|protein_coding|3/4|c.414T>C||||||,G|3_prime_UTR_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000441972|protein_coding|5/5|c.*50T>C|||||50|,G|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding||c.*1309A>G|||||3154|,G|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding||c.*2031A>G|||||3145|,G|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding||c.*2169A>G|||||3491|,G|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000467301|processed_transcript||n.*607A>G|||||4639|,G|non_coding_exon_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000480654|retained_intron|3/3|n.1399T>C||||||,G|non_coding_exon_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000493034|retained_intron|4/4|n.1138T>C|||||| 22 31679286 . AAAAC A . . ANN=|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Cytoplasmic|ENST00000215912|protein_coding|6/6|c.588-16_588-13delGTTT||||||,|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Cytoplasmic|ENST00000215912|protein_coding|5/6|c.588-16_588-13delGTTT||||||,|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Cytoplasmic|ENST00000487265|protein_coding|4/4|c.351-16_351-13delGTTT||||||,|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Cytoplasmic|ENST00000487265|protein_coding|3/4|c.351-16_351-13delGTTT||||||,|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding||c.*1309_*1309delAAAC|||||3230|,|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding||c.*2031_*2031delAAAC|||||3221|,|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding||c.*2169_*2169delAAAC|||||3567|,|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000467301|processed_transcript||n.*607_*607delAAAC|||||4715|,|intron_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000215912|protein_coding|5/5|c.588-16_588-13delGTTT||||||,|intron_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000480654|retained_intron|2/2|n.1336-16_1336-13delGTTT||||||,|intron_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000441972|protein_coding|4/4|c.509-16_509-13delGTTT||||||,|intron_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000493034|retained_intron|3/3|n.1075-16_1075-13delGTTT||||||,|intron_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000487265|protein_coding|3/3|c.351-16_351-13delGTTT|||||| 22 31679321 . A T . . ANN=T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Cytoplasmic|ENST00000215912|protein_coding|6/6|c.588-47T>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Cytoplasmic|ENST00000215912|protein_coding|5/6|c.588-47T>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Cytoplasmic|ENST00000487265|protein_coding|4/4|c.351-47T>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Cytoplasmic|ENST00000487265|protein_coding|3/4|c.351-47T>A||||||,T|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding||c.*1309A>T|||||3264|,T|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding||c.*2031A>T|||||3255|,T|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding||c.*2169A>T|||||3601|,T|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000467301|processed_transcript||n.*607A>T|||||4749|,T|intron_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000215912|protein_coding|5/5|c.588-47T>A||||||,T|intron_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000480654|retained_intron|2/2|n.1336-47T>A||||||,T|intron_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000441972|protein_coding|4/4|c.509-47T>A||||||,T|intron_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000493034|retained_intron|3/3|n.1075-47T>A||||||,T|intron_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000487265|protein_coding|3/3|c.351-47T>A|||||| 22 31685256 . C G . . ANN=G|missense_variant|MODERATE|PIK3IP1|ENSG00000100100|transcript|ENST00000402249|protein_coding|5/5|c.632G>C|p.Arg211Thr|767/999|632/705|211/234||,G|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Cytoplasmic|ENST00000215912|protein_coding|6/6|c.587+45G>C||||||,G|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Cytoplasmic|ENST00000215912|protein_coding|5/6|c.587+45G>C||||||,G|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Cytoplasmic|ENST00000487265|protein_coding|4/4|c.350+45G>C||||||,G|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Cytoplasmic|ENST00000487265|protein_coding|3/4|c.350+45G>C||||||,G|upstream_gene_variant|MODIFIER|RP3-400N23.6|ENSG00000228839|transcript|ENST00000440456|antisense||n.-1C>G|||||3229|,G|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000443175|protein_coding||c.*578G>C|||||371|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000215912|protein_coding|5/5|c.587+45G>C||||||,G|intron_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000480654|retained_intron|2/2|n.1335+45G>C||||||,G|intron_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000441972|protein_coding|4/4|c.508+229G>C||||||,G|intron_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000493034|retained_intron|3/3|n.1074+45G>C||||||,G|intron_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000487265|protein_coding|3/3|c.350+45G>C|||||| 22 31685371 . G A . . ANN=A|synonymous_variant|LOW|PIK3IP1|ENSG00000100100|transcript|ENST00000215912|protein_coding|5/6|c.517C>T|p.Leu173Leu|701/2467|517/792|173/263||,A|synonymous_variant|LOW|PIK3IP1|ENSG00000100100|transcript|ENST00000487265|protein_coding|3/4|c.280C>T|p.Leu94Leu|331/750|280/555|94/184||,A|synonymous_variant|LOW|PIK3IP1|ENSG00000100100|transcript|ENST00000402249|protein_coding|5/5|c.517C>T|p.Leu173Leu|652/999|517/705|173/234||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|transmembrane_region:Transmembrane_region|ENST00000215912|protein_coding|5/6|c.517C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|transmembrane_region:Transmembrane_region|ENST00000215912|protein_coding|4/6|c.517C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|transmembrane_region:Transmembrane_region|ENST00000487265|protein_coding|3/4|c.280C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|transmembrane_region:Transmembrane_region|ENST00000487265|protein_coding|2/4|c.280C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|transmembrane_region:Transmembrane_region|ENST00000402249|protein_coding|5/5|c.517C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|transmembrane_region:Transmembrane_region|ENST00000402249|protein_coding|4/5|c.517C>T||||||,A|upstream_gene_variant|MODIFIER|RP3-400N23.6|ENSG00000228839|transcript|ENST00000440456|antisense||n.-1G>A|||||3114|,A|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000443175|protein_coding||c.*578C>T|||||256|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000441972|protein_coding|4/4|c.508+114C>T||||||,A|non_coding_exon_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000480654|retained_intron|2/3|n.1265C>T||||||,A|non_coding_exon_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000493034|retained_intron|3/4|n.1004C>T|||||| 22 31685458 . G A . . ANN=A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|transmembrane_region:Transmembrane_region|ENST00000215912|protein_coding|5/6|c.508+27C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|transmembrane_region:Transmembrane_region|ENST00000215912|protein_coding|4/6|c.508+27C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|transmembrane_region:Transmembrane_region|ENST00000487265|protein_coding|3/4|c.271+27C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|transmembrane_region:Transmembrane_region|ENST00000487265|protein_coding|2/4|c.271+27C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|transmembrane_region:Transmembrane_region|ENST00000402249|protein_coding|5/5|c.508+27C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|transmembrane_region:Transmembrane_region|ENST00000402249|protein_coding|4/5|c.508+27C>T||||||,A|upstream_gene_variant|MODIFIER|RP3-400N23.6|ENSG00000228839|transcript|ENST00000440456|antisense||n.-1G>A|||||3027|,A|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000443175|protein_coding||c.*578C>T|||||169|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000215912|protein_coding|4/5|c.508+27C>T||||||,A|intron_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000480654|retained_intron|1/2|n.1256+27C>T||||||,A|intron_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000441972|protein_coding|4/4|c.508+27C>T||||||,A|intron_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000493034|retained_intron|2/3|n.995+27C>T||||||,A|intron_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000487265|protein_coding|2/3|c.271+27C>T||||||,A|intron_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000402249|protein_coding|4/4|c.508+27C>T|||||| 22 31685636 . C T . . ANN=T|missense_variant|MODERATE|PIK3IP1|ENSG00000100100|transcript|ENST00000443175|protein_coding|4/4|c.425G>A|p.Arg142His|569/578|425/434|142/143||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|PIK3IP1|ENSG00000100100|transcript|ENST00000215912|protein_coding|4/6|c.357G>A|p.Ala119Ala|541/2467|357/792|119/263||,T|synonymous_variant|LOW|PIK3IP1|ENSG00000100100|transcript|ENST00000441972|protein_coding|4/5|c.357G>A|p.Ala119Ala|547/2374|357/522|119/173||,T|synonymous_variant|LOW|PIK3IP1|ENSG00000100100|transcript|ENST00000487265|protein_coding|2/4|c.120G>A|p.Ala40Ala|171/750|120/555|40/184||,T|synonymous_variant|LOW|PIK3IP1|ENSG00000100100|transcript|ENST00000402249|protein_coding|4/5|c.357G>A|p.Ala119Ala|492/999|357/705|119/234||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000215912|protein_coding|1/6|c.357G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000215912|protein_coding|3/6|c.357G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000215912|protein_coding|2/6|c.357G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000215912|protein_coding|4/6|c.357G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000441972|protein_coding|3/5|c.357G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000441972|protein_coding|2/5|c.357G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000441972|protein_coding|1/5|c.357G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000441972|protein_coding|4/5|c.357G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000402249|protein_coding|3/5|c.357G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000402249|protein_coding|2/5|c.357G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000402249|protein_coding|1/5|c.357G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000402249|protein_coding|4/5|c.357G>A||||||,T|upstream_gene_variant|MODIFIER|RP3-400N23.6|ENSG00000228839|transcript|ENST00000440456|antisense||n.-1C>T|||||2849|,T|non_coding_exon_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000480654|retained_intron|1/3|n.1105G>A||||||,T|non_coding_exon_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000493034|retained_intron|2/4|n.844G>A|||||| 22 31686994 . G A . . ANN=A|synonymous_variant|LOW|PIK3IP1|ENSG00000100100|transcript|ENST00000215912|protein_coding|3/6|c.264C>T|p.Ala88Ala|448/2467|264/792|88/263||,A|synonymous_variant|LOW|PIK3IP1|ENSG00000100100|transcript|ENST00000441972|protein_coding|3/5|c.264C>T|p.Ala88Ala|454/2374|264/522|88/173||,A|synonymous_variant|LOW|PIK3IP1|ENSG00000100100|transcript|ENST00000402249|protein_coding|3/5|c.264C>T|p.Ala88Ala|399/999|264/705|88/234||,A|synonymous_variant|LOW|PIK3IP1|ENSG00000100100|transcript|ENST00000443175|protein_coding|3/4|c.264C>T|p.Ala88Ala|408/578|264/434|88/143||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000215912|protein_coding|1/6|c.264C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000215912|protein_coding|3/6|c.264C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000215912|protein_coding|2/6|c.264C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000215912|protein_coding|4/6|c.264C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|disulfide_bond|ENST00000215912|protein_coding|3/6|c.264C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|disulfide_bond|ENST00000215912|protein_coding|2/6|c.264C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000215912|protein_coding|1/6|c.264C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000215912|protein_coding|3/6|c.264C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000215912|protein_coding|2/6|c.264C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000441972|protein_coding|3/5|c.264C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000441972|protein_coding|2/5|c.264C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000441972|protein_coding|1/5|c.264C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000441972|protein_coding|4/5|c.264C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|disulfide_bond|ENST00000441972|protein_coding|3/5|c.264C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|disulfide_bond|ENST00000441972|protein_coding|2/5|c.264C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000441972|protein_coding|3/5|c.264C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000441972|protein_coding|2/5|c.264C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000441972|protein_coding|1/5|c.264C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000402249|protein_coding|3/5|c.264C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000402249|protein_coding|2/5|c.264C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000402249|protein_coding|1/5|c.264C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000402249|protein_coding|4/5|c.264C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|disulfide_bond|ENST00000402249|protein_coding|3/5|c.264C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|disulfide_bond|ENST00000402249|protein_coding|2/5|c.264C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000402249|protein_coding|3/5|c.264C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000402249|protein_coding|2/5|c.264C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000402249|protein_coding|1/5|c.264C>T||||||,A|upstream_gene_variant|MODIFIER|RP3-400N23.6|ENSG00000228839|transcript|ENST00000440456|antisense||n.-1G>A|||||1491|,A|upstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000480654|retained_intron||n.-1C>T|||||254|,A|upstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000493034|retained_intron||n.-1C>T|||||282|,A|intron_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000487265|protein_coding|1/3|c.70+1267C>T|||||| 22 31687065 . C T . . ANN=T|missense_variant|MODERATE|PIK3IP1|ENSG00000100100|transcript|ENST00000215912|protein_coding|3/6|c.193G>A|p.Gly65Ser|377/2467|193/792|65/263||,T|missense_variant|MODERATE|PIK3IP1|ENSG00000100100|transcript|ENST00000441972|protein_coding|3/5|c.193G>A|p.Gly65Ser|383/2374|193/522|65/173||,T|missense_variant|MODERATE|PIK3IP1|ENSG00000100100|transcript|ENST00000402249|protein_coding|3/5|c.193G>A|p.Gly65Ser|328/999|193/705|65/234||,T|missense_variant|MODERATE|PIK3IP1|ENSG00000100100|transcript|ENST00000443175|protein_coding|3/4|c.193G>A|p.Gly65Ser|337/578|193/434|65/143||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000215912|protein_coding|1/6|c.193G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000215912|protein_coding|3/6|c.193G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000215912|protein_coding|2/6|c.193G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000215912|protein_coding|4/6|c.193G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|disulfide_bond|ENST00000215912|protein_coding|3/6|c.193G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|disulfide_bond|ENST00000215912|protein_coding|2/6|c.193G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000215912|protein_coding|1/6|c.193G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000215912|protein_coding|3/6|c.193G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000215912|protein_coding|2/6|c.193G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000441972|protein_coding|3/5|c.193G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000441972|protein_coding|2/5|c.193G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000441972|protein_coding|1/5|c.193G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000441972|protein_coding|4/5|c.193G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|disulfide_bond|ENST00000441972|protein_coding|3/5|c.193G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|disulfide_bond|ENST00000441972|protein_coding|2/5|c.193G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000441972|protein_coding|3/5|c.193G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000441972|protein_coding|2/5|c.193G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000441972|protein_coding|1/5|c.193G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000402249|protein_coding|3/5|c.193G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000402249|protein_coding|2/5|c.193G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000402249|protein_coding|1/5|c.193G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000402249|protein_coding|4/5|c.193G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|disulfide_bond|ENST00000402249|protein_coding|3/5|c.193G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|disulfide_bond|ENST00000402249|protein_coding|2/5|c.193G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000402249|protein_coding|3/5|c.193G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000402249|protein_coding|2/5|c.193G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000402249|protein_coding|1/5|c.193G>A||||||,T|upstream_gene_variant|MODIFIER|RP3-400N23.6|ENSG00000228839|transcript|ENST00000440456|antisense||n.-1C>T|||||1420|,T|upstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000480654|retained_intron||n.-1G>A|||||325|,T|upstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000493034|retained_intron||n.-1G>A|||||353|,T|intron_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000487265|protein_coding|1/3|c.70+1196G>A|||||| 22 31687082 . G A . . ANN=A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000215912|protein_coding|1/6|c.188-12C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000215912|protein_coding|3/6|c.188-12C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000215912|protein_coding|2/6|c.188-12C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000215912|protein_coding|4/6|c.188-12C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|disulfide_bond|ENST00000215912|protein_coding|3/6|c.188-12C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|disulfide_bond|ENST00000215912|protein_coding|2/6|c.188-12C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000215912|protein_coding|1/6|c.188-12C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000215912|protein_coding|3/6|c.188-12C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000215912|protein_coding|2/6|c.188-12C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000441972|protein_coding|3/5|c.188-12C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000441972|protein_coding|2/5|c.188-12C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000441972|protein_coding|1/5|c.188-12C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000441972|protein_coding|4/5|c.188-12C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|disulfide_bond|ENST00000441972|protein_coding|3/5|c.188-12C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|disulfide_bond|ENST00000441972|protein_coding|2/5|c.188-12C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000441972|protein_coding|3/5|c.188-12C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000441972|protein_coding|2/5|c.188-12C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000441972|protein_coding|1/5|c.188-12C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000402249|protein_coding|3/5|c.188-12C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000402249|protein_coding|2/5|c.188-12C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000402249|protein_coding|1/5|c.188-12C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000402249|protein_coding|4/5|c.188-12C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|disulfide_bond|ENST00000402249|protein_coding|3/5|c.188-12C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|disulfide_bond|ENST00000402249|protein_coding|2/5|c.188-12C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000402249|protein_coding|3/5|c.188-12C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000402249|protein_coding|2/5|c.188-12C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000402249|protein_coding|1/5|c.188-12C>T||||||,A|upstream_gene_variant|MODIFIER|RP3-400N23.6|ENSG00000228839|transcript|ENST00000440456|antisense||n.-1G>A|||||1403|,A|upstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000480654|retained_intron||n.-1C>T|||||342|,A|upstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000493034|retained_intron||n.-1C>T|||||370|,A|intron_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000215912|protein_coding|2/5|c.188-12C>T||||||,A|intron_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000441972|protein_coding|2/4|c.188-12C>T||||||,A|intron_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000487265|protein_coding|1/3|c.70+1179C>T||||||,A|intron_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000402249|protein_coding|2/4|c.188-12C>T||||||,A|intron_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000443175|protein_coding|2/3|c.188-12C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 31687313 . A G . . ANN=G|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000215912|protein_coding|1/6|c.71-31T>C||||||,G|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000215912|protein_coding|3/6|c.71-31T>C||||||,G|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000215912|protein_coding|2/6|c.71-31T>C||||||,G|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000215912|protein_coding|4/6|c.71-31T>C||||||,G|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000215912|protein_coding|1/6|c.71-31T>C||||||,G|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000215912|protein_coding|3/6|c.71-31T>C||||||,G|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000215912|protein_coding|2/6|c.71-31T>C||||||,G|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000441972|protein_coding|3/5|c.71-31T>C||||||,G|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000441972|protein_coding|2/5|c.71-31T>C||||||,G|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000441972|protein_coding|1/5|c.71-31T>C||||||,G|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000441972|protein_coding|4/5|c.71-31T>C||||||,G|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000441972|protein_coding|3/5|c.71-31T>C||||||,G|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000441972|protein_coding|2/5|c.71-31T>C||||||,G|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000441972|protein_coding|1/5|c.71-31T>C||||||,G|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000402249|protein_coding|3/5|c.71-31T>C||||||,G|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000402249|protein_coding|2/5|c.71-31T>C||||||,G|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000402249|protein_coding|1/5|c.71-31T>C||||||,G|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000402249|protein_coding|4/5|c.71-31T>C||||||,G|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000402249|protein_coding|3/5|c.71-31T>C||||||,G|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000402249|protein_coding|2/5|c.71-31T>C||||||,G|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000402249|protein_coding|1/5|c.71-31T>C||||||,G|upstream_gene_variant|MODIFIER|RP3-400N23.6|ENSG00000228839|transcript|ENST00000440456|antisense||n.-1A>G|||||1172|,G|upstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000480654|retained_intron||n.-1T>C|||||573|,G|upstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000493034|retained_intron||n.-1T>C|||||601|,G|intron_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000215912|protein_coding|1/5|c.71-31T>C||||||,G|intron_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000441972|protein_coding|1/4|c.71-31T>C||||||,G|intron_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000487265|protein_coding|1/3|c.70+948T>C||||||,G|intron_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000402249|protein_coding|1/4|c.71-31T>C||||||,G|intron_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000443175|protein_coding|1/3|c.71-31T>C||||||WARNING_TRANSCRIPT_INCOMPLETE 22 31688228 . A C . . ANN=C|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000215912|protein_coding|1/6|c.70+33T>G||||||,C|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000215912|protein_coding|3/6|c.70+33T>G||||||,C|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000215912|protein_coding|2/6|c.70+33T>G||||||,C|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000215912|protein_coding|4/6|c.70+33T>G||||||,C|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000215912|protein_coding|1/6|c.70+33T>G||||||,C|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000215912|protein_coding|3/6|c.70+33T>G||||||,C|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000215912|protein_coding|2/6|c.70+33T>G||||||,C|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000441972|protein_coding|3/5|c.70+33T>G||||||,C|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000441972|protein_coding|2/5|c.70+33T>G||||||,C|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000441972|protein_coding|1/5|c.70+33T>G||||||,C|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000441972|protein_coding|4/5|c.70+33T>G||||||,C|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000441972|protein_coding|3/5|c.70+33T>G||||||,C|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000441972|protein_coding|2/5|c.70+33T>G||||||,C|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000441972|protein_coding|1/5|c.70+33T>G||||||,C|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000402249|protein_coding|3/5|c.70+33T>G||||||,C|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000402249|protein_coding|2/5|c.70+33T>G||||||,C|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000402249|protein_coding|1/5|c.70+33T>G||||||,C|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000402249|protein_coding|4/5|c.70+33T>G||||||,C|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000402249|protein_coding|3/5|c.70+33T>G||||||,C|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000402249|protein_coding|2/5|c.70+33T>G||||||,C|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000402249|protein_coding|1/5|c.70+33T>G||||||,C|upstream_gene_variant|MODIFIER|RP3-400N23.6|ENSG00000228839|transcript|ENST00000440456|antisense||n.-1A>C|||||257|,C|upstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000480654|retained_intron||n.-1T>G|||||1488|,C|upstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000493034|retained_intron||n.-1T>G|||||1516|,C|intron_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000215912|protein_coding|1/5|c.70+33T>G||||||,C|intron_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000441972|protein_coding|1/4|c.70+33T>G||||||,C|intron_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000487265|protein_coding|1/3|c.70+33T>G||||||,C|intron_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000402249|protein_coding|1/4|c.70+33T>G||||||,C|intron_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000443175|protein_coding|1/3|c.70+33T>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 31688242 . G T . . ANN=T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000215912|protein_coding|1/6|c.70+19C>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000215912|protein_coding|3/6|c.70+19C>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000215912|protein_coding|2/6|c.70+19C>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000215912|protein_coding|4/6|c.70+19C>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000215912|protein_coding|1/6|c.70+19C>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000215912|protein_coding|3/6|c.70+19C>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000215912|protein_coding|2/6|c.70+19C>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000441972|protein_coding|3/5|c.70+19C>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000441972|protein_coding|2/5|c.70+19C>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000441972|protein_coding|1/5|c.70+19C>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000441972|protein_coding|4/5|c.70+19C>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000441972|protein_coding|3/5|c.70+19C>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000441972|protein_coding|2/5|c.70+19C>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000441972|protein_coding|1/5|c.70+19C>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000402249|protein_coding|3/5|c.70+19C>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000402249|protein_coding|2/5|c.70+19C>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000402249|protein_coding|1/5|c.70+19C>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000402249|protein_coding|4/5|c.70+19C>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000402249|protein_coding|3/5|c.70+19C>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000402249|protein_coding|2/5|c.70+19C>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000402249|protein_coding|1/5|c.70+19C>A||||||,T|upstream_gene_variant|MODIFIER|RP3-400N23.6|ENSG00000228839|transcript|ENST00000440456|antisense||n.-1G>T|||||243|,T|upstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000480654|retained_intron||n.-1C>A|||||1502|,T|upstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000493034|retained_intron||n.-1C>A|||||1530|,T|intron_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000215912|protein_coding|1/5|c.70+19C>A||||||,T|intron_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000441972|protein_coding|1/4|c.70+19C>A||||||,T|intron_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000487265|protein_coding|1/3|c.70+19C>A||||||,T|intron_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000402249|protein_coding|1/4|c.70+19C>A||||||,T|intron_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000443175|protein_coding|1/3|c.70+19C>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 31688249 . T C . . ANN=C|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000215912|protein_coding|1/6|c.70+12A>G||||||,C|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000215912|protein_coding|3/6|c.70+12A>G||||||,C|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000215912|protein_coding|2/6|c.70+12A>G||||||,C|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000215912|protein_coding|4/6|c.70+12A>G||||||,C|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000215912|protein_coding|1/6|c.70+12A>G||||||,C|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000215912|protein_coding|3/6|c.70+12A>G||||||,C|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000215912|protein_coding|2/6|c.70+12A>G||||||,C|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000441972|protein_coding|3/5|c.70+12A>G||||||,C|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000441972|protein_coding|2/5|c.70+12A>G||||||,C|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000441972|protein_coding|1/5|c.70+12A>G||||||,C|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000441972|protein_coding|4/5|c.70+12A>G||||||,C|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000441972|protein_coding|3/5|c.70+12A>G||||||,C|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000441972|protein_coding|2/5|c.70+12A>G||||||,C|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000441972|protein_coding|1/5|c.70+12A>G||||||,C|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000402249|protein_coding|3/5|c.70+12A>G||||||,C|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000402249|protein_coding|2/5|c.70+12A>G||||||,C|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000402249|protein_coding|1/5|c.70+12A>G||||||,C|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000402249|protein_coding|4/5|c.70+12A>G||||||,C|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000402249|protein_coding|3/5|c.70+12A>G||||||,C|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000402249|protein_coding|2/5|c.70+12A>G||||||,C|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000402249|protein_coding|1/5|c.70+12A>G||||||,C|upstream_gene_variant|MODIFIER|RP3-400N23.6|ENSG00000228839|transcript|ENST00000440456|antisense||n.-1T>C|||||236|,C|upstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000480654|retained_intron||n.-1A>G|||||1509|,C|upstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000493034|retained_intron||n.-1A>G|||||1537|,C|intron_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000215912|protein_coding|1/5|c.70+12A>G||||||,C|intron_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000441972|protein_coding|1/4|c.70+12A>G||||||,C|intron_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000487265|protein_coding|1/3|c.70+12A>G||||||,C|intron_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000402249|protein_coding|1/4|c.70+12A>G||||||,C|intron_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000443175|protein_coding|1/3|c.70+12A>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 31688288 . G A . . ANN=A|missense_variant|MODERATE|PIK3IP1|ENSG00000100100|transcript|ENST00000215912|protein_coding|1/6|c.43C>T|p.Leu15Phe|227/2467|43/792|15/263||,A|missense_variant|MODERATE|PIK3IP1|ENSG00000100100|transcript|ENST00000441972|protein_coding|1/5|c.43C>T|p.Leu15Phe|233/2374|43/522|15/173||,A|missense_variant|MODERATE|PIK3IP1|ENSG00000100100|transcript|ENST00000487265|protein_coding|1/4|c.43C>T|p.Leu15Phe|94/750|43/555|15/184||,A|missense_variant|MODERATE|PIK3IP1|ENSG00000100100|transcript|ENST00000402249|protein_coding|1/5|c.43C>T|p.Leu15Phe|178/999|43/705|15/234||,A|missense_variant|MODERATE|PIK3IP1|ENSG00000100100|transcript|ENST00000443175|protein_coding|1/4|c.43C>T|p.Leu15Phe|187/578|43/434|15/143||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|signal_peptide|ENST00000215912|protein_coding|1/6|c.43C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|signal_peptide|ENST00000441972|protein_coding|1/5|c.43C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|signal_peptide|ENST00000487265|protein_coding|1/4|c.43C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|signal_peptide|ENST00000402249|protein_coding|1/5|c.43C>T||||||,A|upstream_gene_variant|MODIFIER|RP3-400N23.6|ENSG00000228839|transcript|ENST00000440456|antisense||n.-1G>A|||||197|,A|upstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000480654|retained_intron||n.-1C>T|||||1548|,A|upstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000493034|retained_intron||n.-1C>T|||||1576| 22 31688312 . G T . . ANN=T|missense_variant|MODERATE|PIK3IP1|ENSG00000100100|transcript|ENST00000215912|protein_coding|1/6|c.19C>A|p.Gln7Lys|203/2467|19/792|7/263||,T|missense_variant|MODERATE|PIK3IP1|ENSG00000100100|transcript|ENST00000441972|protein_coding|1/5|c.19C>A|p.Gln7Lys|209/2374|19/522|7/173||,T|missense_variant|MODERATE|PIK3IP1|ENSG00000100100|transcript|ENST00000487265|protein_coding|1/4|c.19C>A|p.Gln7Lys|70/750|19/555|7/184||,T|missense_variant|MODERATE|PIK3IP1|ENSG00000100100|transcript|ENST00000402249|protein_coding|1/5|c.19C>A|p.Gln7Lys|154/999|19/705|7/234||,T|missense_variant|MODERATE|PIK3IP1|ENSG00000100100|transcript|ENST00000443175|protein_coding|1/4|c.19C>A|p.Gln7Lys|163/578|19/434|7/143||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|signal_peptide|ENST00000215912|protein_coding|1/6|c.19C>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|signal_peptide|ENST00000441972|protein_coding|1/5|c.19C>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|signal_peptide|ENST00000487265|protein_coding|1/4|c.19C>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|signal_peptide|ENST00000402249|protein_coding|1/5|c.19C>A||||||,T|upstream_gene_variant|MODIFIER|RP3-400N23.6|ENSG00000228839|transcript|ENST00000440456|antisense||n.-1G>T|||||173|,T|upstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000480654|retained_intron||n.-1C>A|||||1572|,T|upstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000493034|retained_intron||n.-1C>A|||||1600| 22 31688345 . T C . . ANN=C|5_prime_UTR_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000215912|protein_coding|1/6|c.-15A>G|||||15|,C|5_prime_UTR_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000441972|protein_coding|1/5|c.-15A>G|||||15|,C|5_prime_UTR_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000487265|protein_coding|1/4|c.-15A>G|||||15|,C|5_prime_UTR_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000402249|protein_coding|1/5|c.-15A>G|||||15|,C|5_prime_UTR_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000443175|protein_coding|1/4|c.-15A>G|||||15|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RP3-400N23.6|ENSG00000228839|transcript|ENST00000440456|antisense||n.-1T>C|||||140|,C|upstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000480654|retained_intron||n.-1A>G|||||1605|,C|upstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000493034|retained_intron||n.-1A>G|||||1633| 22 31722856 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000266269|protein_coding|5/5|c.*21G>A|||||21|,T|3_prime_UTR_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000351933|protein_coding|4/4|c.*21G>A|||||21|,T|3_prime_UTR_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000405309|protein_coding|5/5|c.*406G>A|||||406|,T|intron_variant|MODIFIER|RP3-400N23.6|ENSG00000228839|transcript|ENST00000440456|antisense|1/1|n.201-10798C>T|||||| 22 31722857 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000266269|protein_coding|5/5|c.*20C>T|||||20|,A|3_prime_UTR_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000351933|protein_coding|4/4|c.*20C>T|||||20|,A|3_prime_UTR_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000405309|protein_coding|5/5|c.*405C>T|||||405|,A|intron_variant|MODIFIER|RP3-400N23.6|ENSG00000228839|transcript|ENST00000440456|antisense|1/1|n.201-10797G>A|||||| 22 31722884 . C T . . ANN=T|missense_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000266269|protein_coding|5/5|c.2057G>A|p.Gly686Glu|2687/3781|2057/2064|686/687||,T|missense_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000351933|protein_coding|4/4|c.1919G>A|p.Gly640Glu|2549/3638|1919/1926|640/641||,T|3_prime_UTR_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000405309|protein_coding|5/5|c.*378G>A|||||378|,T|intron_variant|MODIFIER|RP3-400N23.6|ENSG00000228839|transcript|ENST00000440456|antisense|1/1|n.201-10770C>T|||||| 22 31722886 . T G . . ANN=G|missense_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000266269|protein_coding|5/5|c.2055A>C|p.Glu685Asp|2685/3781|2055/2064|685/687||,G|missense_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000351933|protein_coding|4/4|c.1917A>C|p.Glu639Asp|2547/3638|1917/1926|639/641||,G|3_prime_UTR_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000405309|protein_coding|5/5|c.*376A>C|||||376|,G|intron_variant|MODIFIER|RP3-400N23.6|ENSG00000228839|transcript|ENST00000440456|antisense|1/1|n.201-10768T>G|||||| 22 31723042 . C T . . ANN=T|synonymous_variant|LOW|PATZ1|ENSG00000100105|transcript|ENST00000266269|protein_coding|5/5|c.1899G>A|p.Gly633Gly|2529/3781|1899/2064|633/687||,T|synonymous_variant|LOW|PATZ1|ENSG00000100105|transcript|ENST00000351933|protein_coding|4/4|c.1761G>A|p.Gly587Gly|2391/3638|1761/1926|587/641||,T|3_prime_UTR_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000405309|protein_coding|5/5|c.*220G>A|||||220|,T|intron_variant|MODIFIER|RP3-400N23.6|ENSG00000228839|transcript|ENST00000440456|antisense|1/1|n.201-10612C>T|||||| 22 31723054 . G A . . ANN=A|synonymous_variant|LOW|PATZ1|ENSG00000100105|transcript|ENST00000266269|protein_coding|5/5|c.1887C>T|p.Val629Val|2517/3781|1887/2064|629/687||,A|synonymous_variant|LOW|PATZ1|ENSG00000100105|transcript|ENST00000351933|protein_coding|4/4|c.1749C>T|p.Val583Val|2379/3638|1749/1926|583/641||,A|3_prime_UTR_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000405309|protein_coding|5/5|c.*208C>T|||||208|,A|intron_variant|MODIFIER|RP3-400N23.6|ENSG00000228839|transcript|ENST00000440456|antisense|1/1|n.201-10600G>A|||||| 22 31723128 . ACTT A . . ANN=|inframe_deletion|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000266269|protein_coding|5/5|c.1810_1812delAAG|p.Lys604del|2442/3781|1810/2064|604/687||,|inframe_deletion|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000351933|protein_coding|4/4|c.1672_1674delAAG|p.Lys558del|2304/3638|1672/1926|558/641||,|3_prime_UTR_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000405309|protein_coding|5/5|c.*131_*133delAAG|||||131|,|intron_variant|MODIFIER|RP3-400N23.6|ENSG00000228839|transcript|ENST00000440456|antisense|1/1|n.201-10520_201-10518delTCT||||||INFO_REALIGN_3_PRIME 22 31723292 . CCTT C . . ANN=|disruptive_inframe_deletion&splice_region_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000266269|protein_coding|5/5|c.1646_1648delAAG|p.Glu549del|2278/3781|1646/2064|549/687||,|disruptive_inframe_deletion&splice_region_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000351933|protein_coding|4/4|c.1508_1510delAAG|p.Glu503del|2140/3638|1508/1926|503/641||,|disruptive_inframe_deletion&splice_region_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000405309|protein_coding|5/5|c.1581_1583delAAG|p.Arg528del|2213/3711|1581/1614|527/537||,|intron_variant|MODIFIER|RP3-400N23.6|ENSG00000228839|transcript|ENST00000440456|antisense|1/1|n.201-10359_201-10357delTCT||||||INFO_REALIGN_3_PRIME 22 31723299 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|PATZ1|ENSG00000100105|transcript|ENST00000266269|protein_coding|4/4|c.1646-4G>A||||||,T|splice_region_variant&intron_variant|LOW|PATZ1|ENSG00000100105|transcript|ENST00000351933|protein_coding|3/3|c.1508-4G>A||||||,T|splice_region_variant&intron_variant|LOW|PATZ1|ENSG00000100105|transcript|ENST00000405309|protein_coding|4/4|c.1581-4G>A||||||,T|intron_variant|MODIFIER|RP3-400N23.6|ENSG00000228839|transcript|ENST00000440456|antisense|1/1|n.201-10355C>T|||||| 22 31723322 . C A . . ANN=A|intron_variant|MODIFIER|RP3-400N23.6|ENSG00000228839|transcript|ENST00000440456|antisense|1/1|n.201-10332C>A||||||,A|intron_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000266269|protein_coding|4/4|c.1646-27G>T||||||,A|intron_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000351933|protein_coding|3/3|c.1508-27G>T||||||,A|intron_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000405309|protein_coding|4/4|c.1581-27G>T|||||| 22 31724942 . G A . . ANN=A|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_6|ENST00000266269|protein_coding|3/5|c.1508-32C>T||||||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_6|ENST00000266269|protein_coding|4/5|c.1508-32C>T||||||,A|intron_variant|MODIFIER|RP3-400N23.6|ENSG00000228839|transcript|ENST00000440456|antisense|1/1|n.201-8712G>A||||||,A|intron_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000266269|protein_coding|3/4|c.1508-32C>T||||||,A|intron_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000351933|protein_coding|3/3|c.1508-1647C>T||||||,A|intron_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000405309|protein_coding|3/4|c.1508-97C>T|||||| 22 31737376 . C T . . ANN=T|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_5|ENST00000266269|protein_coding|3/5|c.1335+1507G>A||||||,T|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_5|ENST00000266269|protein_coding|2/5|c.1335+1507G>A||||||,T|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_5|ENST00000351933|protein_coding|3/4|c.1335+1507G>A||||||,T|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_5|ENST00000351933|protein_coding|2/4|c.1335+1507G>A||||||,T|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_5|ENST00000405309|protein_coding|3/5|c.1335+1507G>A||||||,T|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_5|ENST00000405309|protein_coding|2/5|c.1335+1507G>A||||||,T|3_prime_UTR_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000215919|protein_coding|3/3|c.*15G>A|||||15|,T|downstream_gene_variant|MODIFIER|RP3-400N23.6|ENSG00000228839|transcript|ENST00000440456|antisense||n.*554C>T|||||3369|,T|downstream_gene_variant|MODIFIER|RP3-400N23.6|ENSG00000228839|transcript|ENST00000451161|antisense||n.*422C>T|||||3369|,T|intron_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000266269|protein_coding|2/4|c.1335+1507G>A||||||,T|intron_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000351933|protein_coding|2/3|c.1335+1507G>A||||||,T|intron_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000405309|protein_coding|2/4|c.1335+1507G>A||||||,T|intron_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000494109|retained_intron|1/1|n.389+1507G>A||||||,T|non_coding_exon_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000465287|retained_intron|2/2|n.989G>A|||||| 22 31737384 . G A . . ANN=A|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_5|ENST00000266269|protein_coding|3/5|c.1335+1499C>T||||||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_5|ENST00000266269|protein_coding|2/5|c.1335+1499C>T||||||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_5|ENST00000351933|protein_coding|3/4|c.1335+1499C>T||||||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_5|ENST00000351933|protein_coding|2/4|c.1335+1499C>T||||||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_5|ENST00000405309|protein_coding|3/5|c.1335+1499C>T||||||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_5|ENST00000405309|protein_coding|2/5|c.1335+1499C>T||||||,A|3_prime_UTR_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000215919|protein_coding|3/3|c.*7C>T|||||7|,A|downstream_gene_variant|MODIFIER|RP3-400N23.6|ENSG00000228839|transcript|ENST00000440456|antisense||n.*554G>A|||||3377|,A|downstream_gene_variant|MODIFIER|RP3-400N23.6|ENSG00000228839|transcript|ENST00000451161|antisense||n.*422G>A|||||3377|,A|intron_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000266269|protein_coding|2/4|c.1335+1499C>T||||||,A|intron_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000351933|protein_coding|2/3|c.1335+1499C>T||||||,A|intron_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000405309|protein_coding|2/4|c.1335+1499C>T||||||,A|intron_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000494109|retained_intron|1/1|n.389+1499C>T||||||,A|non_coding_exon_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000465287|retained_intron|2/2|n.981C>T|||||| 22 31737436 . G A . . ANN=A|synonymous_variant|LOW|PATZ1|ENSG00000100105|transcript|ENST00000215919|protein_coding|3/3|c.1569C>T|p.Thr523Thr|1743/2516|1569/1614|523/537||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_5|ENST00000266269|protein_coding|3/5|c.1335+1447C>T||||||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_5|ENST00000266269|protein_coding|2/5|c.1335+1447C>T||||||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_5|ENST00000351933|protein_coding|3/4|c.1335+1447C>T||||||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_5|ENST00000351933|protein_coding|2/4|c.1335+1447C>T||||||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_5|ENST00000405309|protein_coding|3/5|c.1335+1447C>T||||||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_5|ENST00000405309|protein_coding|2/5|c.1335+1447C>T||||||,A|downstream_gene_variant|MODIFIER|RP3-400N23.6|ENSG00000228839|transcript|ENST00000440456|antisense||n.*554G>A|||||3429|,A|downstream_gene_variant|MODIFIER|RP3-400N23.6|ENSG00000228839|transcript|ENST00000451161|antisense||n.*422G>A|||||3429|,A|intron_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000266269|protein_coding|2/4|c.1335+1447C>T||||||,A|intron_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000351933|protein_coding|2/3|c.1335+1447C>T||||||,A|intron_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000405309|protein_coding|2/4|c.1335+1447C>T||||||,A|intron_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000494109|retained_intron|1/1|n.389+1447C>T||||||,A|non_coding_exon_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000465287|retained_intron|2/2|n.929C>T|||||| 22 31737559 . A G . . ANN=G|synonymous_variant|LOW|PATZ1|ENSG00000100105|transcript|ENST00000215919|protein_coding|3/3|c.1446T>C|p.Pro482Pro|1620/2516|1446/1614|482/537||,G|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_5|ENST00000266269|protein_coding|3/5|c.1335+1324T>C||||||,G|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_5|ENST00000266269|protein_coding|2/5|c.1335+1324T>C||||||,G|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_5|ENST00000351933|protein_coding|3/4|c.1335+1324T>C||||||,G|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_5|ENST00000351933|protein_coding|2/4|c.1335+1324T>C||||||,G|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_5|ENST00000405309|protein_coding|3/5|c.1335+1324T>C||||||,G|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_5|ENST00000405309|protein_coding|2/5|c.1335+1324T>C||||||,G|downstream_gene_variant|MODIFIER|RP3-400N23.6|ENSG00000228839|transcript|ENST00000440456|antisense||n.*554A>G|||||3552|,G|downstream_gene_variant|MODIFIER|RP3-400N23.6|ENSG00000228839|transcript|ENST00000451161|antisense||n.*422A>G|||||3552|,G|intron_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000266269|protein_coding|2/4|c.1335+1324T>C||||||,G|intron_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000351933|protein_coding|2/3|c.1335+1324T>C||||||,G|intron_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000405309|protein_coding|2/4|c.1335+1324T>C||||||,G|intron_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000494109|retained_intron|1/1|n.389+1324T>C||||||,G|non_coding_exon_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000465287|retained_intron|2/2|n.806T>C|||||| 22 31737684 . G A . . ANN=A|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_5|ENST00000266269|protein_coding|3/5|c.1335+1199C>T||||||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_5|ENST00000266269|protein_coding|2/5|c.1335+1199C>T||||||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_5|ENST00000351933|protein_coding|3/4|c.1335+1199C>T||||||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_5|ENST00000351933|protein_coding|2/4|c.1335+1199C>T||||||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_5|ENST00000405309|protein_coding|3/5|c.1335+1199C>T||||||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_5|ENST00000405309|protein_coding|2/5|c.1335+1199C>T||||||,A|downstream_gene_variant|MODIFIER|RP3-400N23.6|ENSG00000228839|transcript|ENST00000440456|antisense||n.*554G>A|||||3677|,A|downstream_gene_variant|MODIFIER|RP3-400N23.6|ENSG00000228839|transcript|ENST00000451161|antisense||n.*422G>A|||||3677|,A|intron_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000266269|protein_coding|2/4|c.1335+1199C>T||||||,A|intron_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000351933|protein_coding|2/3|c.1335+1199C>T||||||,A|intron_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000405309|protein_coding|2/4|c.1335+1199C>T||||||,A|intron_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000494109|retained_intron|1/1|n.389+1199C>T||||||,A|intron_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000465287|retained_intron|1/1|n.696-15C>T||||||,A|intron_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000215919|protein_coding|2/2|c.1336-15C>T|||||| 22 31738840 . C T . . ANN=T|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_5|ENST00000266269|protein_coding|3/5|c.1335+43G>A||||||,T|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_5|ENST00000266269|protein_coding|2/5|c.1335+43G>A||||||,T|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_5|ENST00000351933|protein_coding|3/4|c.1335+43G>A||||||,T|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_5|ENST00000351933|protein_coding|2/4|c.1335+43G>A||||||,T|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_5|ENST00000405309|protein_coding|3/5|c.1335+43G>A||||||,T|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_5|ENST00000405309|protein_coding|2/5|c.1335+43G>A||||||,T|upstream_gene_variant|MODIFIER|AC005003.1|ENSG00000213888|transcript|ENST00000504184|protein_coding||c.-454C>T|||||4035|,T|downstream_gene_variant|MODIFIER|RP3-400N23.6|ENSG00000228839|transcript|ENST00000440456|antisense||n.*554C>T|||||4833|,T|downstream_gene_variant|MODIFIER|RP3-400N23.6|ENSG00000228839|transcript|ENST00000451161|antisense||n.*422C>T|||||4833|,T|intron_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000266269|protein_coding|2/4|c.1335+43G>A||||||,T|intron_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000351933|protein_coding|2/3|c.1335+43G>A||||||,T|intron_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000405309|protein_coding|2/4|c.1335+43G>A||||||,T|intron_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000494109|retained_intron|1/1|n.389+43G>A||||||,T|intron_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000465287|retained_intron|1/1|n.695+43G>A||||||,T|intron_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000215919|protein_coding|2/2|c.1335+43G>A|||||| 22 31738862 . C G . . ANN=G|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_5|ENST00000266269|protein_coding|3/5|c.1335+21G>C||||||,G|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_5|ENST00000266269|protein_coding|2/5|c.1335+21G>C||||||,G|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_5|ENST00000351933|protein_coding|3/4|c.1335+21G>C||||||,G|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_5|ENST00000351933|protein_coding|2/4|c.1335+21G>C||||||,G|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_5|ENST00000405309|protein_coding|3/5|c.1335+21G>C||||||,G|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_5|ENST00000405309|protein_coding|2/5|c.1335+21G>C||||||,G|upstream_gene_variant|MODIFIER|AC005003.1|ENSG00000213888|transcript|ENST00000504184|protein_coding||c.-454C>G|||||4013|,G|downstream_gene_variant|MODIFIER|RP3-400N23.6|ENSG00000228839|transcript|ENST00000440456|antisense||n.*554C>G|||||4855|,G|downstream_gene_variant|MODIFIER|RP3-400N23.6|ENSG00000228839|transcript|ENST00000451161|antisense||n.*422C>G|||||4855|,G|intron_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000266269|protein_coding|2/4|c.1335+21G>C||||||,G|intron_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000351933|protein_coding|2/3|c.1335+21G>C||||||,G|intron_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000405309|protein_coding|2/4|c.1335+21G>C||||||,G|intron_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000494109|retained_intron|1/1|n.389+21G>C||||||,G|intron_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000465287|retained_intron|1/1|n.695+21G>C||||||,G|intron_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000215919|protein_coding|2/2|c.1335+21G>C|||||| 22 31738928 . T C . . ANN=C|synonymous_variant|LOW|PATZ1|ENSG00000100105|transcript|ENST00000266269|protein_coding|2/5|c.1290A>G|p.Gly430Gly|1920/3781|1290/2064|430/687||,C|synonymous_variant|LOW|PATZ1|ENSG00000100105|transcript|ENST00000351933|protein_coding|2/4|c.1290A>G|p.Gly430Gly|1920/3638|1290/1926|430/641||,C|synonymous_variant|LOW|PATZ1|ENSG00000100105|transcript|ENST00000405309|protein_coding|2/5|c.1290A>G|p.Gly430Gly|1920/3711|1290/1614|430/537||,C|synonymous_variant|LOW|PATZ1|ENSG00000100105|transcript|ENST00000215919|protein_coding|2/3|c.1290A>G|p.Gly430Gly|1464/2516|1290/1614|430/537||,C|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_4|ENST00000266269|protein_coding|1/5|c.1290A>G||||||,C|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_4|ENST00000266269|protein_coding|2/5|c.1290A>G||||||,C|sequence_feature|LOW|PATZ1|ENSG00000100105|helix|ENST00000266269|protein_coding|2/5|c.1290A>G||||||,C|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_4|ENST00000351933|protein_coding|1/4|c.1290A>G||||||,C|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_4|ENST00000351933|protein_coding|2/4|c.1290A>G||||||,C|sequence_feature|LOW|PATZ1|ENSG00000100105|helix|ENST00000351933|protein_coding|2/4|c.1290A>G||||||,C|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_4|ENST00000405309|protein_coding|1/5|c.1290A>G||||||,C|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_4|ENST00000405309|protein_coding|2/5|c.1290A>G||||||,C|sequence_feature|LOW|PATZ1|ENSG00000100105|helix|ENST00000405309|protein_coding|2/5|c.1290A>G||||||,C|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_4|ENST00000215919|protein_coding|2/3|c.1290A>G||||||,C|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_4|ENST00000215919|protein_coding|1/3|c.1290A>G||||||,C|sequence_feature|LOW|PATZ1|ENSG00000100105|helix|ENST00000215919|protein_coding|2/3|c.1290A>G||||||,C|upstream_gene_variant|MODIFIER|AC005003.1|ENSG00000213888|transcript|ENST00000504184|protein_coding||c.-454T>C|||||3947|,C|downstream_gene_variant|MODIFIER|RP3-400N23.6|ENSG00000228839|transcript|ENST00000440456|antisense||n.*554T>C|||||4921|,C|downstream_gene_variant|MODIFIER|RP3-400N23.6|ENSG00000228839|transcript|ENST00000451161|antisense||n.*422T>C|||||4921|,C|non_coding_exon_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000494109|retained_intron|1/2|n.344A>G||||||,C|non_coding_exon_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000465287|retained_intron|1/2|n.650A>G|||||| 22 31740282 . C T . . ANN=T|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_4|ENST00000266269|protein_coding|1/5|c.1271+36G>A||||||,T|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_4|ENST00000266269|protein_coding|2/5|c.1271+36G>A||||||,T|sequence_feature|LOW|PATZ1|ENSG00000100105|beta_strand|ENST00000266269|protein_coding|1/5|c.1271+36G>A||||||,T|sequence_feature|LOW|PATZ1|ENSG00000100105|beta_strand|ENST00000266269|protein_coding|2/5|c.1271+36G>A||||||,T|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_4|ENST00000351933|protein_coding|1/4|c.1271+36G>A||||||,T|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_4|ENST00000351933|protein_coding|2/4|c.1271+36G>A||||||,T|sequence_feature|LOW|PATZ1|ENSG00000100105|beta_strand|ENST00000351933|protein_coding|1/4|c.1271+36G>A||||||,T|sequence_feature|LOW|PATZ1|ENSG00000100105|beta_strand|ENST00000351933|protein_coding|2/4|c.1271+36G>A||||||,T|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_4|ENST00000405309|protein_coding|1/5|c.1271+36G>A||||||,T|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_4|ENST00000405309|protein_coding|2/5|c.1271+36G>A||||||,T|sequence_feature|LOW|PATZ1|ENSG00000100105|beta_strand|ENST00000405309|protein_coding|1/5|c.1271+36G>A||||||,T|sequence_feature|LOW|PATZ1|ENSG00000100105|beta_strand|ENST00000405309|protein_coding|2/5|c.1271+36G>A||||||,T|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_4|ENST00000215919|protein_coding|2/3|c.1271+36G>A||||||,T|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_4|ENST00000215919|protein_coding|1/3|c.1271+36G>A||||||,T|sequence_feature|LOW|PATZ1|ENSG00000100105|beta_strand|ENST00000215919|protein_coding|2/3|c.1271+36G>A||||||,T|sequence_feature|LOW|PATZ1|ENSG00000100105|beta_strand|ENST00000215919|protein_coding|1/3|c.1271+36G>A||||||,T|upstream_gene_variant|MODIFIER|AC005003.1|ENSG00000213888|transcript|ENST00000504184|protein_coding||c.-454C>T|||||2593|,T|upstream_gene_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000494109|retained_intron||n.-1G>A|||||1011|,T|upstream_gene_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000465287|retained_intron||n.-1G>A|||||705|,T|intron_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000266269|protein_coding|1/4|c.1271+36G>A||||||,T|intron_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000351933|protein_coding|1/3|c.1271+36G>A||||||,T|intron_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000405309|protein_coding|1/4|c.1271+36G>A||||||,T|intron_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000215919|protein_coding|1/2|c.1271+36G>A|||||| 22 31740307 . C T . . ANN=T|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_4|ENST00000266269|protein_coding|1/5|c.1271+11G>A||||||,T|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_4|ENST00000266269|protein_coding|2/5|c.1271+11G>A||||||,T|sequence_feature|LOW|PATZ1|ENSG00000100105|beta_strand|ENST00000266269|protein_coding|1/5|c.1271+11G>A||||||,T|sequence_feature|LOW|PATZ1|ENSG00000100105|beta_strand|ENST00000266269|protein_coding|2/5|c.1271+11G>A||||||,T|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_4|ENST00000351933|protein_coding|1/4|c.1271+11G>A||||||,T|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_4|ENST00000351933|protein_coding|2/4|c.1271+11G>A||||||,T|sequence_feature|LOW|PATZ1|ENSG00000100105|beta_strand|ENST00000351933|protein_coding|1/4|c.1271+11G>A||||||,T|sequence_feature|LOW|PATZ1|ENSG00000100105|beta_strand|ENST00000351933|protein_coding|2/4|c.1271+11G>A||||||,T|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_4|ENST00000405309|protein_coding|1/5|c.1271+11G>A||||||,T|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_4|ENST00000405309|protein_coding|2/5|c.1271+11G>A||||||,T|sequence_feature|LOW|PATZ1|ENSG00000100105|beta_strand|ENST00000405309|protein_coding|1/5|c.1271+11G>A||||||,T|sequence_feature|LOW|PATZ1|ENSG00000100105|beta_strand|ENST00000405309|protein_coding|2/5|c.1271+11G>A||||||,T|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_4|ENST00000215919|protein_coding|2/3|c.1271+11G>A||||||,T|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_4|ENST00000215919|protein_coding|1/3|c.1271+11G>A||||||,T|sequence_feature|LOW|PATZ1|ENSG00000100105|beta_strand|ENST00000215919|protein_coding|2/3|c.1271+11G>A||||||,T|sequence_feature|LOW|PATZ1|ENSG00000100105|beta_strand|ENST00000215919|protein_coding|1/3|c.1271+11G>A||||||,T|upstream_gene_variant|MODIFIER|AC005003.1|ENSG00000213888|transcript|ENST00000504184|protein_coding||c.-454C>T|||||2568|,T|upstream_gene_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000494109|retained_intron||n.-1G>A|||||1036|,T|upstream_gene_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000465287|retained_intron||n.-1G>A|||||730|,T|intron_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000266269|protein_coding|1/4|c.1271+11G>A||||||,T|intron_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000351933|protein_coding|1/3|c.1271+11G>A||||||,T|intron_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000405309|protein_coding|1/4|c.1271+11G>A||||||,T|intron_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000215919|protein_coding|1/2|c.1271+11G>A|||||| 22 31740390 . T A . . ANN=A|missense_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000266269|protein_coding|1/5|c.1199A>T|p.Tyr400Phe|1829/3781|1199/2064|400/687||,A|missense_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000351933|protein_coding|1/4|c.1199A>T|p.Tyr400Phe|1829/3638|1199/1926|400/641||,A|missense_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000405309|protein_coding|1/5|c.1199A>T|p.Tyr400Phe|1829/3711|1199/1614|400/537||,A|missense_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000215919|protein_coding|1/3|c.1199A>T|p.Tyr400Phe|1373/2516|1199/1614|400/537||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|helix|ENST00000266269|protein_coding|1/5|c.1199A>T||||||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_3|ENST00000266269|protein_coding|1/5|c.1199A>T||||||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|helix|ENST00000351933|protein_coding|1/4|c.1199A>T||||||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_3|ENST00000351933|protein_coding|1/4|c.1199A>T||||||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|helix|ENST00000405309|protein_coding|1/5|c.1199A>T||||||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_3|ENST00000405309|protein_coding|1/5|c.1199A>T||||||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|helix|ENST00000215919|protein_coding|1/3|c.1199A>T||||||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_3|ENST00000215919|protein_coding|1/3|c.1199A>T||||||,A|upstream_gene_variant|MODIFIER|AC005003.1|ENSG00000213888|transcript|ENST00000504184|protein_coding||c.-454T>A|||||2485|,A|upstream_gene_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000494109|retained_intron||n.-1A>T|||||1119|,A|upstream_gene_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000465287|retained_intron||n.-1A>T|||||813| 22 31740449 . C T . . ANN=T|synonymous_variant|LOW|PATZ1|ENSG00000100105|transcript|ENST00000266269|protein_coding|1/5|c.1140G>A|p.Glu380Glu|1770/3781|1140/2064|380/687||,T|synonymous_variant|LOW|PATZ1|ENSG00000100105|transcript|ENST00000351933|protein_coding|1/4|c.1140G>A|p.Glu380Glu|1770/3638|1140/1926|380/641||,T|synonymous_variant|LOW|PATZ1|ENSG00000100105|transcript|ENST00000405309|protein_coding|1/5|c.1140G>A|p.Glu380Glu|1770/3711|1140/1614|380/537||,T|synonymous_variant|LOW|PATZ1|ENSG00000100105|transcript|ENST00000215919|protein_coding|1/3|c.1140G>A|p.Glu380Glu|1314/2516|1140/1614|380/537||,T|upstream_gene_variant|MODIFIER|AC005003.1|ENSG00000213888|transcript|ENST00000504184|protein_coding||c.-454C>T|||||2426|,T|upstream_gene_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000494109|retained_intron||n.-1G>A|||||1178|,T|upstream_gene_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000465287|retained_intron||n.-1G>A|||||872| 22 31740470 . G A . . ANN=A|synonymous_variant|LOW|PATZ1|ENSG00000100105|transcript|ENST00000266269|protein_coding|1/5|c.1119C>T|p.His373His|1749/3781|1119/2064|373/687||,A|synonymous_variant|LOW|PATZ1|ENSG00000100105|transcript|ENST00000351933|protein_coding|1/4|c.1119C>T|p.His373His|1749/3638|1119/1926|373/641||,A|synonymous_variant|LOW|PATZ1|ENSG00000100105|transcript|ENST00000405309|protein_coding|1/5|c.1119C>T|p.His373His|1749/3711|1119/1614|373/537||,A|synonymous_variant|LOW|PATZ1|ENSG00000100105|transcript|ENST00000215919|protein_coding|1/3|c.1119C>T|p.His373His|1293/2516|1119/1614|373/537||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_2|ENST00000266269|protein_coding|1/5|c.1119C>T||||||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|helix|ENST00000266269|protein_coding|1/5|c.1119C>T||||||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_2|ENST00000351933|protein_coding|1/4|c.1119C>T||||||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|helix|ENST00000351933|protein_coding|1/4|c.1119C>T||||||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_2|ENST00000405309|protein_coding|1/5|c.1119C>T||||||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|helix|ENST00000405309|protein_coding|1/5|c.1119C>T||||||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_2|ENST00000215919|protein_coding|1/3|c.1119C>T||||||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|helix|ENST00000215919|protein_coding|1/3|c.1119C>T||||||,A|upstream_gene_variant|MODIFIER|AC005003.1|ENSG00000213888|transcript|ENST00000504184|protein_coding||c.-454G>A|||||2405|,A|upstream_gene_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000494109|retained_intron||n.-1C>T|||||1199|,A|upstream_gene_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000465287|retained_intron||n.-1C>T|||||893| 22 31740500 . G T . . ANN=T|synonymous_variant|LOW|PATZ1|ENSG00000100105|transcript|ENST00000266269|protein_coding|1/5|c.1089C>A|p.Ile363Ile|1719/3781|1089/2064|363/687||,T|synonymous_variant|LOW|PATZ1|ENSG00000100105|transcript|ENST00000351933|protein_coding|1/4|c.1089C>A|p.Ile363Ile|1719/3638|1089/1926|363/641||,T|synonymous_variant|LOW|PATZ1|ENSG00000100105|transcript|ENST00000405309|protein_coding|1/5|c.1089C>A|p.Ile363Ile|1719/3711|1089/1614|363/537||,T|synonymous_variant|LOW|PATZ1|ENSG00000100105|transcript|ENST00000215919|protein_coding|1/3|c.1089C>A|p.Ile363Ile|1263/2516|1089/1614|363/537||,T|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_2|ENST00000266269|protein_coding|1/5|c.1089C>A||||||,T|sequence_feature|LOW|PATZ1|ENSG00000100105|beta_strand|ENST00000266269|protein_coding|1/5|c.1089C>A||||||,T|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_2|ENST00000351933|protein_coding|1/4|c.1089C>A||||||,T|sequence_feature|LOW|PATZ1|ENSG00000100105|beta_strand|ENST00000351933|protein_coding|1/4|c.1089C>A||||||,T|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_2|ENST00000405309|protein_coding|1/5|c.1089C>A||||||,T|sequence_feature|LOW|PATZ1|ENSG00000100105|beta_strand|ENST00000405309|protein_coding|1/5|c.1089C>A||||||,T|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_2|ENST00000215919|protein_coding|1/3|c.1089C>A||||||,T|sequence_feature|LOW|PATZ1|ENSG00000100105|beta_strand|ENST00000215919|protein_coding|1/3|c.1089C>A||||||,T|upstream_gene_variant|MODIFIER|AC005003.1|ENSG00000213888|transcript|ENST00000504184|protein_coding||c.-454G>T|||||2375|,T|upstream_gene_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000494109|retained_intron||n.-1C>A|||||1229|,T|upstream_gene_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000465287|retained_intron||n.-1C>A|||||923| 22 31740564 . G A . . ANN=A|missense_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000266269|protein_coding|1/5|c.1025C>T|p.Pro342Leu|1655/3781|1025/2064|342/687||,A|missense_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000351933|protein_coding|1/4|c.1025C>T|p.Pro342Leu|1655/3638|1025/1926|342/641||,A|missense_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000405309|protein_coding|1/5|c.1025C>T|p.Pro342Leu|1655/3711|1025/1614|342/537||,A|missense_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000215919|protein_coding|1/3|c.1025C>T|p.Pro342Leu|1199/2516|1025/1614|342/537||,A|upstream_gene_variant|MODIFIER|AC005003.1|ENSG00000213888|transcript|ENST00000504184|protein_coding||c.-454G>A|||||2311|,A|upstream_gene_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000494109|retained_intron||n.-1C>T|||||1293|,A|upstream_gene_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000465287|retained_intron||n.-1C>T|||||987| 22 31740668 . G C . . ANN=C|synonymous_variant|LOW|PATZ1|ENSG00000100105|transcript|ENST00000266269|protein_coding|1/5|c.921C>G|p.Leu307Leu|1551/3781|921/2064|307/687||,C|synonymous_variant|LOW|PATZ1|ENSG00000100105|transcript|ENST00000351933|protein_coding|1/4|c.921C>G|p.Leu307Leu|1551/3638|921/1926|307/641||,C|synonymous_variant|LOW|PATZ1|ENSG00000100105|transcript|ENST00000405309|protein_coding|1/5|c.921C>G|p.Leu307Leu|1551/3711|921/1614|307/537||,C|synonymous_variant|LOW|PATZ1|ENSG00000100105|transcript|ENST00000215919|protein_coding|1/3|c.921C>G|p.Leu307Leu|1095/2516|921/1614|307/537||,C|sequence_feature|LOW|PATZ1|ENSG00000100105|helix|ENST00000266269|protein_coding|1/5|c.921C>G||||||,C|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_1|ENST00000266269|protein_coding|1/5|c.921C>G||||||,C|sequence_feature|LOW|PATZ1|ENSG00000100105|helix|ENST00000351933|protein_coding|1/4|c.921C>G||||||,C|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_1|ENST00000351933|protein_coding|1/4|c.921C>G||||||,C|sequence_feature|LOW|PATZ1|ENSG00000100105|helix|ENST00000405309|protein_coding|1/5|c.921C>G||||||,C|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_1|ENST00000405309|protein_coding|1/5|c.921C>G||||||,C|sequence_feature|LOW|PATZ1|ENSG00000100105|helix|ENST00000215919|protein_coding|1/3|c.921C>G||||||,C|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_1|ENST00000215919|protein_coding|1/3|c.921C>G||||||,C|upstream_gene_variant|MODIFIER|AC005003.1|ENSG00000213888|transcript|ENST00000504184|protein_coding||c.-454G>C|||||2207|,C|upstream_gene_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000494109|retained_intron||n.-1C>G|||||1397|,C|upstream_gene_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000465287|retained_intron||n.-1C>G|||||1091| 22 31740676 . T A . . ANN=A|missense_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000266269|protein_coding|1/5|c.913A>T|p.Asn305Tyr|1543/3781|913/2064|305/687||,A|missense_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000351933|protein_coding|1/4|c.913A>T|p.Asn305Tyr|1543/3638|913/1926|305/641||,A|missense_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000405309|protein_coding|1/5|c.913A>T|p.Asn305Tyr|1543/3711|913/1614|305/537||,A|missense_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000215919|protein_coding|1/3|c.913A>T|p.Asn305Tyr|1087/2516|913/1614|305/537||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|helix|ENST00000266269|protein_coding|1/5|c.913A>T||||||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_1|ENST00000266269|protein_coding|1/5|c.913A>T||||||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|helix|ENST00000351933|protein_coding|1/4|c.913A>T||||||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_1|ENST00000351933|protein_coding|1/4|c.913A>T||||||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|helix|ENST00000405309|protein_coding|1/5|c.913A>T||||||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_1|ENST00000405309|protein_coding|1/5|c.913A>T||||||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|helix|ENST00000215919|protein_coding|1/3|c.913A>T||||||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_1|ENST00000215919|protein_coding|1/3|c.913A>T||||||,A|upstream_gene_variant|MODIFIER|AC005003.1|ENSG00000213888|transcript|ENST00000504184|protein_coding||c.-454T>A|||||2199|,A|upstream_gene_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000494109|retained_intron||n.-1A>T|||||1405|,A|upstream_gene_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000465287|retained_intron||n.-1A>T|||||1099| 22 31740947 . C T . . ANN=T|synonymous_variant|LOW|PATZ1|ENSG00000100105|transcript|ENST00000266269|protein_coding|1/5|c.642G>A|p.Arg214Arg|1272/3781|642/2064|214/687||,T|synonymous_variant|LOW|PATZ1|ENSG00000100105|transcript|ENST00000351933|protein_coding|1/4|c.642G>A|p.Arg214Arg|1272/3638|642/1926|214/641||,T|synonymous_variant|LOW|PATZ1|ENSG00000100105|transcript|ENST00000405309|protein_coding|1/5|c.642G>A|p.Arg214Arg|1272/3711|642/1614|214/537||,T|synonymous_variant|LOW|PATZ1|ENSG00000100105|transcript|ENST00000215919|protein_coding|1/3|c.642G>A|p.Arg214Arg|816/2516|642/1614|214/537||,T|upstream_gene_variant|MODIFIER|AC005003.1|ENSG00000213888|transcript|ENST00000504184|protein_coding||c.-454C>T|||||1928|,T|upstream_gene_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000494109|retained_intron||n.-1G>A|||||1676|,T|upstream_gene_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000465287|retained_intron||n.-1G>A|||||1370| 22 31740957 . T C . . ANN=C|missense_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000266269|protein_coding|1/5|c.632A>G|p.Glu211Gly|1262/3781|632/2064|211/687||,C|missense_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000351933|protein_coding|1/4|c.632A>G|p.Glu211Gly|1262/3638|632/1926|211/641||,C|missense_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000405309|protein_coding|1/5|c.632A>G|p.Glu211Gly|1262/3711|632/1614|211/537||,C|missense_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000215919|protein_coding|1/3|c.632A>G|p.Glu211Gly|806/2516|632/1614|211/537||,C|upstream_gene_variant|MODIFIER|AC005003.1|ENSG00000213888|transcript|ENST00000504184|protein_coding||c.-454T>C|||||1918|,C|upstream_gene_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000494109|retained_intron||n.-1A>G|||||1686|,C|upstream_gene_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000465287|retained_intron||n.-1A>G|||||1380| 22 31740963 . T A . . ANN=A|missense_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000266269|protein_coding|1/5|c.626A>T|p.Glu209Val|1256/3781|626/2064|209/687||,A|missense_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000351933|protein_coding|1/4|c.626A>T|p.Glu209Val|1256/3638|626/1926|209/641||,A|missense_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000405309|protein_coding|1/5|c.626A>T|p.Glu209Val|1256/3711|626/1614|209/537||,A|missense_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000215919|protein_coding|1/3|c.626A>T|p.Glu209Val|800/2516|626/1614|209/537||,A|upstream_gene_variant|MODIFIER|AC005003.1|ENSG00000213888|transcript|ENST00000504184|protein_coding||c.-454T>A|||||1912|,A|upstream_gene_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000494109|retained_intron||n.-1A>T|||||1692|,A|upstream_gene_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000465287|retained_intron||n.-1A>T|||||1386| 22 31741023 . A G . . ANN=G|missense_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000266269|protein_coding|1/5|c.566T>C|p.Met189Thr|1196/3781|566/2064|189/687||,G|missense_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000351933|protein_coding|1/4|c.566T>C|p.Met189Thr|1196/3638|566/1926|189/641||,G|missense_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000405309|protein_coding|1/5|c.566T>C|p.Met189Thr|1196/3711|566/1614|189/537||,G|missense_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000215919|protein_coding|1/3|c.566T>C|p.Met189Thr|740/2516|566/1614|189/537||,G|upstream_gene_variant|MODIFIER|AC005003.1|ENSG00000213888|transcript|ENST00000504184|protein_coding||c.-454A>G|||||1852|,G|upstream_gene_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000494109|retained_intron||n.-1T>C|||||1752|,G|upstream_gene_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000465287|retained_intron||n.-1T>C|||||1446| 22 31741067 . G A . . ANN=A|synonymous_variant|LOW|PATZ1|ENSG00000100105|transcript|ENST00000266269|protein_coding|1/5|c.522C>T|p.Leu174Leu|1152/3781|522/2064|174/687||,A|synonymous_variant|LOW|PATZ1|ENSG00000100105|transcript|ENST00000351933|protein_coding|1/4|c.522C>T|p.Leu174Leu|1152/3638|522/1926|174/641||,A|synonymous_variant|LOW|PATZ1|ENSG00000100105|transcript|ENST00000405309|protein_coding|1/5|c.522C>T|p.Leu174Leu|1152/3711|522/1614|174/537||,A|synonymous_variant|LOW|PATZ1|ENSG00000100105|transcript|ENST00000215919|protein_coding|1/3|c.522C>T|p.Leu174Leu|696/2516|522/1614|174/537||,A|upstream_gene_variant|MODIFIER|AC005003.1|ENSG00000213888|transcript|ENST00000504184|protein_coding||c.-454G>A|||||1808|,A|upstream_gene_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000494109|retained_intron||n.-1C>T|||||1796|,A|upstream_gene_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000465287|retained_intron||n.-1C>T|||||1490| 22 31741358 . G A . . ANN=A|synonymous_variant|LOW|PATZ1|ENSG00000100105|transcript|ENST00000266269|protein_coding|1/5|c.231C>T|p.Gly77Gly|861/3781|231/2064|77/687||,A|synonymous_variant|LOW|PATZ1|ENSG00000100105|transcript|ENST00000351933|protein_coding|1/4|c.231C>T|p.Gly77Gly|861/3638|231/1926|77/641||,A|synonymous_variant|LOW|PATZ1|ENSG00000100105|transcript|ENST00000405309|protein_coding|1/5|c.231C>T|p.Gly77Gly|861/3711|231/1614|77/537||,A|synonymous_variant|LOW|PATZ1|ENSG00000100105|transcript|ENST00000215919|protein_coding|1/3|c.231C>T|p.Gly77Gly|405/2516|231/1614|77/537||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|domain:BTB|ENST00000266269|protein_coding|1/5|c.231C>T||||||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|domain:BTB|ENST00000351933|protein_coding|1/4|c.231C>T||||||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|domain:BTB|ENST00000405309|protein_coding|1/5|c.231C>T||||||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|domain:BTB|ENST00000215919|protein_coding|1/3|c.231C>T||||||,A|upstream_gene_variant|MODIFIER|AC005003.1|ENSG00000213888|transcript|ENST00000504184|protein_coding||c.-454G>A|||||1517|,A|upstream_gene_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000494109|retained_intron||n.-1C>T|||||2087|,A|upstream_gene_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000465287|retained_intron||n.-1C>T|||||1781| 22 31741517 . C T . . ANN=T|synonymous_variant|LOW|PATZ1|ENSG00000100105|transcript|ENST00000266269|protein_coding|1/5|c.72G>A|p.Thr24Thr|702/3781|72/2064|24/687||,T|synonymous_variant|LOW|PATZ1|ENSG00000100105|transcript|ENST00000351933|protein_coding|1/4|c.72G>A|p.Thr24Thr|702/3638|72/1926|24/641||,T|synonymous_variant|LOW|PATZ1|ENSG00000100105|transcript|ENST00000405309|protein_coding|1/5|c.72G>A|p.Thr24Thr|702/3711|72/1614|24/537||,T|synonymous_variant|LOW|PATZ1|ENSG00000100105|transcript|ENST00000215919|protein_coding|1/3|c.72G>A|p.Thr24Thr|246/2516|72/1614|24/537||,T|upstream_gene_variant|MODIFIER|AC005003.1|ENSG00000213888|transcript|ENST00000504184|protein_coding||c.-454C>T|||||1358|,T|upstream_gene_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000494109|retained_intron||n.-1G>A|||||2246|,T|upstream_gene_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000465287|retained_intron||n.-1G>A|||||1940| 22 31741556 . C A . . ANN=A|synonymous_variant|LOW|PATZ1|ENSG00000100105|transcript|ENST00000266269|protein_coding|1/5|c.33G>T|p.Pro11Pro|663/3781|33/2064|11/687||,A|synonymous_variant|LOW|PATZ1|ENSG00000100105|transcript|ENST00000351933|protein_coding|1/4|c.33G>T|p.Pro11Pro|663/3638|33/1926|11/641||,A|synonymous_variant|LOW|PATZ1|ENSG00000100105|transcript|ENST00000405309|protein_coding|1/5|c.33G>T|p.Pro11Pro|663/3711|33/1614|11/537||,A|synonymous_variant|LOW|PATZ1|ENSG00000100105|transcript|ENST00000215919|protein_coding|1/3|c.33G>T|p.Pro11Pro|207/2516|33/1614|11/537||,A|upstream_gene_variant|MODIFIER|AC005003.1|ENSG00000213888|transcript|ENST00000504184|protein_coding||c.-454C>A|||||1319|,A|upstream_gene_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000494109|retained_intron||n.-1G>T|||||2285|,A|upstream_gene_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000465287|retained_intron||n.-1G>T|||||1979| 22 31795645 . T G . . ANN=G|5_prime_UTR_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000331457|protein_coding|1/9|c.-25T>G|||||25|,G|5_prime_UTR_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000416465|nonsense_mediated_decay|1/6|n.-25T>G|||||25|,G|non_coding_exon_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000416465|nonsense_mediated_decay|1/6|n.-25T>G||||||,G|non_coding_exon_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000433341|processed_transcript|1/7|n.43T>G||||||,G|non_coding_exon_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000486584|processed_transcript|1/3|n.27T>G|||||| 22 31796559 . G A . . ANN=A|sequence_feature|LOW|DRG1|ENSG00000185721|region_of_interest:Required_for_interaction_with_STK16|ENST00000331457|protein_coding|1/9|c.43-47G>A||||||,A|sequence_feature|LOW|DRG1|ENSG00000185721|region_of_interest:Required_for_interaction_with_STK16|ENST00000331457|protein_coding|2/9|c.43-47G>A||||||,A|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000331457|protein_coding|1/8|c.43-47G>A||||||,A|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000416465|nonsense_mediated_decay|1/5|n.43-47G>A||||||,A|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000433341|processed_transcript|1/6|n.110-47G>A||||||,A|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000486584|processed_transcript|1/2|n.93+848G>A|||||| 22 31796563 . C T . . ANN=T|sequence_feature|LOW|DRG1|ENSG00000185721|region_of_interest:Required_for_interaction_with_STK16|ENST00000331457|protein_coding|1/9|c.43-43C>T||||||,T|sequence_feature|LOW|DRG1|ENSG00000185721|region_of_interest:Required_for_interaction_with_STK16|ENST00000331457|protein_coding|2/9|c.43-43C>T||||||,T|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000331457|protein_coding|1/8|c.43-43C>T||||||,T|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000416465|nonsense_mediated_decay|1/5|n.43-43C>T||||||,T|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000433341|processed_transcript|1/6|n.110-43C>T||||||,T|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000486584|processed_transcript|1/2|n.93+852C>T|||||| 22 31796632 . C G . . ANN=G|synonymous_variant|LOW|DRG1|ENSG00000185721|transcript|ENST00000331457|protein_coding|2/9|c.69C>G|p.Ala23Ala|230/1746|69/1104|23/367||,G|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000486584|processed_transcript|1/2|n.93+921C>G||||||,G|non_coding_exon_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000416465|nonsense_mediated_decay|2/6|n.69C>G||||||,G|non_coding_exon_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000433341|processed_transcript|2/7|n.136C>G|||||| 22 31806965 . T A . . ANN=A|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|3/9|c.343-33T>A||||||,A|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|6/9|c.343-33T>A||||||,A|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|7/9|c.343-33T>A||||||,A|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|4/9|c.343-33T>A||||||,A|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|5/9|c.343-33T>A||||||,A|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000331457|protein_coding|3/8|c.343-33T>A||||||,A|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000416465|nonsense_mediated_decay|2/5|n.167-33T>A||||||,A|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000433341|processed_transcript|3/6|n.410-33T>A||||||,A|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000486584|processed_transcript|2/2|n.270-33T>A|||||| 22 31807042 . A G . . ANN=G|synonymous_variant|LOW|DRG1|ENSG00000185721|transcript|ENST00000331457|protein_coding|4/9|c.387A>G|p.Lys129Lys|548/1746|387/1104|129/367||,G|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|3/9|c.387A>G||||||,G|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|6/9|c.387A>G||||||,G|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|7/9|c.387A>G||||||,G|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|4/9|c.387A>G||||||,G|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|5/9|c.387A>G||||||,G|3_prime_UTR_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000416465|nonsense_mediated_decay|3/6|n.*19A>G|||||19|,G|non_coding_exon_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000416465|nonsense_mediated_decay|3/6|n.*19A>G||||||,G|non_coding_exon_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000433341|processed_transcript|4/7|n.454A>G||||||,G|non_coding_exon_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000486584|processed_transcript|3/3|n.314A>G|||||| 22 31807115 . G T . . ANN=T|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|3/9|c.412+48G>T||||||,T|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|6/9|c.412+48G>T||||||,T|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|7/9|c.412+48G>T||||||,T|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|4/9|c.412+48G>T||||||,T|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|5/9|c.412+48G>T||||||,T|downstream_gene_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000486584|processed_transcript||n.*318G>T|||||69|,T|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000331457|protein_coding|4/8|c.412+48G>T||||||,T|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000416465|nonsense_mediated_decay|3/5|n.*44+48G>T||||||,T|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000433341|processed_transcript|4/6|n.479+48G>T|||||| 22 31816199 . C T . . ANN=T|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|3/9|c.413-43C>T||||||,T|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|6/9|c.413-43C>T||||||,T|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|7/9|c.413-43C>T||||||,T|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|4/9|c.413-43C>T||||||,T|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|5/9|c.413-43C>T||||||,T|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000331457|protein_coding|4/8|c.413-43C>T||||||,T|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000416465|nonsense_mediated_decay|3/5|n.*45-43C>T||||||,T|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000433341|processed_transcript|4/6|n.480-43C>T|||||| 22 31816217 . C T . . ANN=T|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|3/9|c.413-25C>T||||||,T|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|6/9|c.413-25C>T||||||,T|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|7/9|c.413-25C>T||||||,T|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|4/9|c.413-25C>T||||||,T|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|5/9|c.413-25C>T||||||,T|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000331457|protein_coding|4/8|c.413-25C>T||||||,T|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000416465|nonsense_mediated_decay|3/5|n.*45-25C>T||||||,T|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000433341|processed_transcript|4/6|n.480-25C>T|||||| 22 31816256 . A C . . ANN=C|missense_variant|MODERATE|DRG1|ENSG00000185721|transcript|ENST00000331457|protein_coding|5/9|c.427A>C|p.Asn143His|588/1746|427/1104|143/367||,C|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|3/9|c.427A>C||||||,C|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|6/9|c.427A>C||||||,C|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|7/9|c.427A>C||||||,C|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|4/9|c.427A>C||||||,C|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|5/9|c.427A>C||||||,C|3_prime_UTR_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000416465|nonsense_mediated_decay|4/6|n.*59A>C|||||9233|,C|non_coding_exon_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000416465|nonsense_mediated_decay|4/6|n.*59A>C||||||,C|non_coding_exon_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000433341|processed_transcript|5/7|n.494A>C|||||| 22 31816404 . C T . . ANN=T|missense_variant|MODERATE|DRG1|ENSG00000185721|transcript|ENST00000331457|protein_coding|5/9|c.575C>T|p.Thr192Ile|736/1746|575/1104|192/367||,T|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|3/9|c.575C>T||||||,T|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|6/9|c.575C>T||||||,T|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|7/9|c.575C>T||||||,T|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|4/9|c.575C>T||||||,T|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|5/9|c.575C>T||||||,T|3_prime_UTR_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000416465|nonsense_mediated_decay|4/6|n.*207C>T|||||9381|,T|non_coding_exon_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000416465|nonsense_mediated_decay|4/6|n.*207C>T||||||,T|non_coding_exon_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000433341|processed_transcript|5/7|n.642C>T|||||| 22 31816421 . G A . . ANN=A|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|3/9|c.582+10G>A||||||,A|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|6/9|c.582+10G>A||||||,A|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|7/9|c.582+10G>A||||||,A|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|4/9|c.582+10G>A||||||,A|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|5/9|c.582+10G>A||||||,A|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000331457|protein_coding|5/8|c.582+10G>A||||||,A|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000416465|nonsense_mediated_decay|4/5|n.*214+10G>A||||||,A|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000433341|processed_transcript|5/6|n.649+10G>A|||||| 22 31816430 . A G . . ANN=G|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|3/9|c.582+19A>G||||||,G|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|6/9|c.582+19A>G||||||,G|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|7/9|c.582+19A>G||||||,G|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|4/9|c.582+19A>G||||||,G|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|5/9|c.582+19A>G||||||,G|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000331457|protein_coding|5/8|c.582+19A>G||||||,G|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000416465|nonsense_mediated_decay|4/5|n.*214+19A>G||||||,G|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000433341|processed_transcript|5/6|n.649+19A>G|||||| 22 31816439 . G A . . ANN=A|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|3/9|c.582+28G>A||||||,A|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|6/9|c.582+28G>A||||||,A|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|7/9|c.582+28G>A||||||,A|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|4/9|c.582+28G>A||||||,A|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|5/9|c.582+28G>A||||||,A|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000331457|protein_coding|5/8|c.582+28G>A||||||,A|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000416465|nonsense_mediated_decay|4/5|n.*214+28G>A||||||,A|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000433341|processed_transcript|5/6|n.649+28G>A|||||| 22 31823094 . G A . . ANN=A|synonymous_variant|LOW|DRG1|ENSG00000185721|transcript|ENST00000331457|protein_coding|8/9|c.930G>A|p.Val310Val|1091/1746|930/1104|310/367||,A|sequence_feature|LOW|DRG1|ENSG00000185721|beta_strand|ENST00000331457|protein_coding|8/9|c.930G>A||||||,A|downstream_gene_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000416465|nonsense_mediated_decay||n.*266G>A|||||3789|,A|downstream_gene_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000433341|processed_transcript||n.*808G>A|||||3762|,A|non_coding_exon_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000469673|retained_intron|2/3|n.319G>A||||||,A|non_coding_exon_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/4|n.90G>A|||||| 22 31823205 . A G . . ANN=G|sequence_feature|LOW|DRG1|ENSG00000185721|beta_strand|ENST00000331457|protein_coding|9/9|c.1004+37A>G||||||,G|sequence_feature|LOW|DRG1|ENSG00000185721|beta_strand|ENST00000331457|protein_coding|8/9|c.1004+37A>G||||||,G|downstream_gene_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000416465|nonsense_mediated_decay||n.*266A>G|||||3900|,G|downstream_gene_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000433341|processed_transcript||n.*808A>G|||||3873|,G|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000331457|protein_coding|8/8|c.1004+37A>G||||||,G|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000469673|retained_intron|2/2|n.393+37A>G||||||,G|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.164+37A>G|||||| 22 31829975 . A G . . ANN=G|3_prime_UTR_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000331457|protein_coding|9/9|c.*18A>G|||||18|,G|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000441289|processed_transcript||n.*597T>C|||||2988|,G|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.164+6807A>G||||||,G|non_coding_exon_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000469673|retained_intron|3/3|n.511A>G|||||| 22 31829981 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000331457|protein_coding|9/9|c.*24C>T|||||24|,T|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000441289|processed_transcript||n.*597G>A|||||2982|,T|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.164+6813C>T||||||,T|non_coding_exon_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000469673|retained_intron|3/3|n.517C>T|||||| 22 31836042 . C T . . ANN=T|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|19/19|c.2782G>A|p.Val928Met|2857/3544|2782/2958|928/985||,T|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|17/17|c.2260G>A|p.Val754Met|2418/3111|2260/2436|754/811||,T|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|19/19|c.2782G>A|p.Val928Met|3006/3695|2782/2958|928/985||,T|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|17/17|c.2710G>A|p.Val904Met|2737/3420|2710/2886|904/961||,T|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000382180|protein_coding|11/11|c.1747G>A|p.Val583Met|1757/2151|1747/1923|583/640||,T|upstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000441289|processed_transcript||n.-1G>A|||||149|,T|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000445424|nonsense_mediated_decay||n.*284G>A|||||1747|,T|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000475437|retained_intron||n.*542G>A|||||1979|,T|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000487671|retained_intron||n.*619G>A|||||4382|,T|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000418321|protein_coding||c.*718G>A|||||4576|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.164+12874C>T||||||,T|non_coding_exon_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000495101|retained_intron|9/9|n.2173G>A|||||| 22 31836079 . A G . . ANN=G|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|19/19|c.2745T>C|p.His915His|2820/3544|2745/2958|915/985||,G|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|17/17|c.2223T>C|p.His741His|2381/3111|2223/2436|741/811||,G|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|19/19|c.2745T>C|p.His915His|2969/3695|2745/2958|915/985||,G|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|17/17|c.2673T>C|p.His891His|2700/3420|2673/2886|891/961||,G|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000382180|protein_coding|11/11|c.1710T>C|p.His570His|1720/2151|1710/1923|570/640||,G|upstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000441289|processed_transcript||n.-1T>C|||||186|,G|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000445424|nonsense_mediated_decay||n.*284T>C|||||1710|,G|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000475437|retained_intron||n.*542T>C|||||1942|,G|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000487671|retained_intron||n.*619T>C|||||4345|,G|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000418321|protein_coding||c.*718T>C|||||4539|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.164+12911A>G||||||,G|non_coding_exon_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000495101|retained_intron|9/9|n.2136T>C|||||| 22 31836151 . A G . . ANN=G|upstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000441289|processed_transcript||n.-1T>C|||||258|,G|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000445424|nonsense_mediated_decay||n.*284T>C|||||1638|,G|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000475437|retained_intron||n.*542T>C|||||1870|,G|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000487671|retained_intron||n.*619T>C|||||4273|,G|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000418321|protein_coding||c.*718T>C|||||4467|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|18/18|c.2717-44T>C||||||,G|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.164+12983A>G||||||,G|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|16/16|c.2195-44T>C||||||,G|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000495101|retained_intron|8/8|n.2108-44T>C||||||,G|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|18/18|c.2717-44T>C||||||,G|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|16/16|c.2645-44T>C||||||,G|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000382180|protein_coding|10/10|c.1682-44T>C|||||| 22 31836675 . C T . . ANN=T|upstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000441289|processed_transcript||n.-1G>A|||||782|,T|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000445424|nonsense_mediated_decay||n.*284G>A|||||1114|,T|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000475437|retained_intron||n.*542G>A|||||1346|,T|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000487671|retained_intron||n.*619G>A|||||3749|,T|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000418321|protein_coding||c.*718G>A|||||3943|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|18/18|c.2716+15G>A||||||,T|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.164+13507C>T||||||,T|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|16/16|c.2194+15G>A||||||,T|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000495101|retained_intron|8/8|n.2107+15G>A||||||,T|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|18/18|c.2716+15G>A||||||,T|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|16/16|c.2644+15G>A||||||,T|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000382180|protein_coding|10/10|c.1681+15G>A|||||| 22 31836799 . G A . . ANN=A|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|18/19|c.2607C>T|p.Ile869Ile|2682/3544|2607/2958|869/985||,A|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|16/17|c.2085C>T|p.Ile695Ile|2243/3111|2085/2436|695/811||,A|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|18/19|c.2607C>T|p.Ile869Ile|2831/3695|2607/2958|869/985||,A|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|16/17|c.2535C>T|p.Ile845Ile|2562/3420|2535/2886|845/961||,A|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000382180|protein_coding|10/11|c.1572C>T|p.Ile524Ile|1582/2151|1572/1923|524/640||,A|upstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000441289|processed_transcript||n.-1C>T|||||906|,A|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000445424|nonsense_mediated_decay||n.*284C>T|||||990|,A|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000475437|retained_intron||n.*542C>T|||||1222|,A|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000487671|retained_intron||n.*619C>T|||||3625|,A|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000418321|protein_coding||c.*718C>T|||||3819|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.164+13631G>A||||||,A|non_coding_exon_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000495101|retained_intron|8/9|n.1998C>T|||||| 22 31836842 . G A . . ANN=A|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|18/19|c.2564C>T|p.Pro855Leu|2639/3544|2564/2958|855/985||,A|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|16/17|c.2042C>T|p.Pro681Leu|2200/3111|2042/2436|681/811||,A|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|18/19|c.2564C>T|p.Pro855Leu|2788/3695|2564/2958|855/985||,A|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|16/17|c.2492C>T|p.Pro831Leu|2519/3420|2492/2886|831/961||,A|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000382180|protein_coding|10/11|c.1529C>T|p.Pro510Leu|1539/2151|1529/1923|510/640||,A|upstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000441289|processed_transcript||n.-1C>T|||||949|,A|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000445424|nonsense_mediated_decay||n.*284C>T|||||947|,A|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000475437|retained_intron||n.*542C>T|||||1179|,A|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000487671|retained_intron||n.*619C>T|||||3582|,A|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000418321|protein_coding||c.*718C>T|||||3776|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.164+13674G>A||||||,A|non_coding_exon_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000495101|retained_intron|8/9|n.1955C>T|||||| 22 31837960 . C T . . ANN=T|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|17/19|c.2351G>A|p.Arg784Gln|2426/3544|2351/2958|784/985||,T|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|15/17|c.1829G>A|p.Arg610Gln|1987/3111|1829/2436|610/811||,T|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|17/19|c.2351G>A|p.Arg784Gln|2575/3695|2351/2958|784/985||,T|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|15/17|c.2279G>A|p.Arg760Gln|2306/3420|2279/2886|760/961||,T|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000382180|protein_coding|9/11|c.1316G>A|p.Arg439Gln|1326/2151|1316/1923|439/640||,T|3_prime_UTR_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000445424|nonsense_mediated_decay|7/7|n.*406G>A|||||5007|,T|upstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000441289|processed_transcript||n.-1G>A|||||2067|,T|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000475437|retained_intron||n.*542G>A|||||61|,T|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000487671|retained_intron||n.*619G>A|||||2464|,T|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000418321|protein_coding||c.*718G>A|||||2658|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.164+14792C>T||||||,T|non_coding_exon_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000495101|retained_intron|7/9|n.1742G>A||||||,T|non_coding_exon_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000445424|nonsense_mediated_decay|7/7|n.*406G>A|||||| 22 31838014 . G A . . ANN=A|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|17/19|c.2297C>T|p.Ser766Leu|2372/3544|2297/2958|766/985||,A|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|15/17|c.1775C>T|p.Ser592Leu|1933/3111|1775/2436|592/811||,A|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|17/19|c.2297C>T|p.Ser766Leu|2521/3695|2297/2958|766/985||,A|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|15/17|c.2225C>T|p.Ser742Leu|2252/3420|2225/2886|742/961||,A|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000382180|protein_coding|9/11|c.1262C>T|p.Ser421Leu|1272/2151|1262/1923|421/640||,A|3_prime_UTR_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000445424|nonsense_mediated_decay|7/7|n.*352C>T|||||4953|,A|upstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000441289|processed_transcript||n.-1C>T|||||2121|,A|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000475437|retained_intron||n.*542C>T|||||7|,A|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000487671|retained_intron||n.*619C>T|||||2410|,A|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000418321|protein_coding||c.*718C>T|||||2604|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.164+14846G>A||||||,A|non_coding_exon_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000495101|retained_intron|7/9|n.1688C>T||||||,A|non_coding_exon_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000445424|nonsense_mediated_decay|7/7|n.*352C>T|||||| 22 31838070 . G A . . ANN=A|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|17/19|c.2241C>T|p.Ala747Ala|2316/3544|2241/2958|747/985||,A|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|15/17|c.1719C>T|p.Ala573Ala|1877/3111|1719/2436|573/811||,A|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|17/19|c.2241C>T|p.Ala747Ala|2465/3695|2241/2958|747/985||,A|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|15/17|c.2169C>T|p.Ala723Ala|2196/3420|2169/2886|723/961||,A|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000382180|protein_coding|9/11|c.1206C>T|p.Ala402Ala|1216/2151|1206/1923|402/640||,A|3_prime_UTR_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000445424|nonsense_mediated_decay|7/7|n.*296C>T|||||4897|,A|upstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000441289|processed_transcript||n.-1C>T|||||2177|,A|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000487671|retained_intron||n.*619C>T|||||2354|,A|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000418321|protein_coding||c.*718C>T|||||2548|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.164+14902G>A||||||,A|non_coding_exon_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000495101|retained_intron|7/9|n.1632C>T||||||,A|non_coding_exon_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000445424|nonsense_mediated_decay|7/7|n.*296C>T||||||,A|non_coding_exon_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000475437|retained_intron|2/2|n.493C>T|||||| 22 31838085 . G A . . ANN=A|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|17/19|c.2226C>T|p.Ser742Ser|2301/3544|2226/2958|742/985||,A|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|15/17|c.1704C>T|p.Ser568Ser|1862/3111|1704/2436|568/811||,A|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|17/19|c.2226C>T|p.Ser742Ser|2450/3695|2226/2958|742/985||,A|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|15/17|c.2154C>T|p.Ser718Ser|2181/3420|2154/2886|718/961||,A|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000382180|protein_coding|9/11|c.1191C>T|p.Ser397Ser|1201/2151|1191/1923|397/640||,A|3_prime_UTR_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000445424|nonsense_mediated_decay|7/7|n.*281C>T|||||4882|,A|upstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000441289|processed_transcript||n.-1C>T|||||2192|,A|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000487671|retained_intron||n.*619C>T|||||2339|,A|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000418321|protein_coding||c.*718C>T|||||2533|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.164+14917G>A||||||,A|non_coding_exon_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000495101|retained_intron|7/9|n.1617C>T||||||,A|non_coding_exon_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000445424|nonsense_mediated_decay|7/7|n.*281C>T||||||,A|non_coding_exon_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000475437|retained_intron|2/2|n.478C>T|||||| 22 31838138 . A T . . ANN=T|upstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000441289|processed_transcript||n.-1T>A|||||2245|,T|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000487671|retained_intron||n.*619T>A|||||2286|,T|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000418321|protein_coding||c.*718T>A|||||2480|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|16/18|c.2207-34T>A||||||,T|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.164+14970A>T||||||,T|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|14/16|c.1685-34T>A||||||,T|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000495101|retained_intron|6/8|n.1598-34T>A||||||,T|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|16/18|c.2207-34T>A||||||,T|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|14/16|c.2135-34T>A||||||,T|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000382180|protein_coding|8/10|c.1172-34T>A||||||,T|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000445424|nonsense_mediated_decay|6/6|n.*262-34T>A||||||,T|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000475437|retained_intron|1/1|n.459-34T>A|||||| 22 31839123 . C T . . ANN=T|upstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000441289|processed_transcript||n.-1G>A|||||3230|,T|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000487671|retained_intron||n.*619G>A|||||1301|,T|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000418321|protein_coding||c.*718G>A|||||1495|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|15/18|c.2074-43G>A||||||,T|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.164+15955C>T||||||,T|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|13/16|c.1552-43G>A||||||,T|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000495101|retained_intron|5/8|n.1465-43G>A||||||,T|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|15/18|c.2074-43G>A||||||,T|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|13/16|c.2002-43G>A||||||,T|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000382180|protein_coding|7/10|c.1039-43G>A||||||,T|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000445424|nonsense_mediated_decay|5/6|n.*129-43G>A||||||,T|non_coding_exon_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000475437|retained_intron|1/2|n.283G>A|||||| 22 31839124 . G A . . ANN=A|upstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000441289|processed_transcript||n.-1C>T|||||3231|,A|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000487671|retained_intron||n.*619C>T|||||1300|,A|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000418321|protein_coding||c.*718C>T|||||1494|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|15/18|c.2074-44C>T||||||,A|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.164+15956G>A||||||,A|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|13/16|c.1552-44C>T||||||,A|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000495101|retained_intron|5/8|n.1465-44C>T||||||,A|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|15/18|c.2074-44C>T||||||,A|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|13/16|c.2002-44C>T||||||,A|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000382180|protein_coding|7/10|c.1039-44C>T||||||,A|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000445424|nonsense_mediated_decay|5/6|n.*129-44C>T||||||,A|non_coding_exon_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000475437|retained_intron|1/2|n.282C>T|||||| 22 31840691 . A G . . ANN=G|upstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000441289|processed_transcript||n.-1T>C|||||4798|,G|upstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000475437|retained_intron||n.-1T>C|||||1286|,G|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|14/18|c.1989-15T>C||||||,G|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.164+17523A>G||||||,G|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|12/16|c.1467-15T>C||||||,G|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000495101|retained_intron|4/8|n.1380-15T>C||||||,G|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|14/18|c.1989-15T>C||||||,G|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|12/16|c.1917-15T>C||||||,G|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000382180|protein_coding|6/10|c.954-15T>C||||||,G|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000445424|nonsense_mediated_decay|4/6|n.*44-15T>C||||||,G|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000487671|retained_intron|3/3|n.367-15T>C||||||,G|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000418321|protein_coding|6/6|c.660-15T>C||||||WARNING_TRANSCRIPT_INCOMPLETE 22 31840693 . TATC T . . ANN=|upstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000441289|processed_transcript||n.-1_-1delGAT|||||4801|,|upstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000475437|retained_intron||n.-1_-1delGAT|||||1289|,|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|14/18|c.1989-20_1989-18delGAT||||||,|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.164+17527_164+17529delTCA||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|12/16|c.1467-20_1467-18delGAT||||||,|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000495101|retained_intron|4/8|n.1380-20_1380-18delGAT||||||,|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|14/18|c.1989-20_1989-18delGAT||||||,|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|12/16|c.1917-20_1917-18delGAT||||||,|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000382180|protein_coding|6/10|c.954-20_954-18delGAT||||||,|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000445424|nonsense_mediated_decay|4/6|n.*44-20_*44-18delGAT||||||,|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000487671|retained_intron|3/3|n.367-20_367-18delGAT||||||,|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000418321|protein_coding|6/6|c.660-20_660-18delGAT||||||WARNING_TRANSCRIPT_INCOMPLETE 22 31843489 . A C . . ANN=C|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|14/19|c.1911T>G|p.Ala637Ala|1986/3544|1911/2958|637/985||,C|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|12/17|c.1389T>G|p.Ala463Ala|1547/3111|1389/2436|463/811||,C|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|14/19|c.1911T>G|p.Ala637Ala|2135/3695|1911/2958|637/985||,C|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|12/17|c.1839T>G|p.Ala613Ala|1866/3420|1839/2886|613/961||,C|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000382180|protein_coding|6/11|c.876T>G|p.Ala292Ala|886/2151|876/1923|292/640||,C|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000418321|protein_coding|6/7|c.582T>G|p.Ala194Ala|582/718|582/718|194/238||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|EIF4ENIF1|ENSG00000184708|short_sequence_motif:Nuclear_export_signal|ENST00000330125|protein_coding|14/19|c.1911T>G||||||,C|sequence_feature|LOW|EIF4ENIF1|ENSG00000184708|short_sequence_motif:Nuclear_export_signal|ENST00000330125|protein_coding|13/19|c.1911T>G||||||,C|upstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000475437|retained_intron||n.-1T>G|||||4084|,C|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.164+20321A>C||||||,C|non_coding_exon_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000495101|retained_intron|4/9|n.1302T>G||||||,C|non_coding_exon_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000445424|nonsense_mediated_decay|3/7|n.177T>G||||||,C|non_coding_exon_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000487671|retained_intron|3/4|n.289T>G|||||| 22 31843567 . G C . . ANN=C|sequence_feature|LOW|EIF4ENIF1|ENSG00000184708|short_sequence_motif:Nuclear_export_signal|ENST00000330125|protein_coding|14/19|c.1849-16C>G||||||,C|sequence_feature|LOW|EIF4ENIF1|ENSG00000184708|short_sequence_motif:Nuclear_export_signal|ENST00000330125|protein_coding|13/19|c.1849-16C>G||||||,C|upstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000475437|retained_intron||n.-1C>G|||||4162|,C|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|13/18|c.1849-16C>G||||||,C|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.164+20399G>C||||||,C|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|11/16|c.1324-13C>G||||||,C|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000495101|retained_intron|3/8|n.1237-13C>G||||||,C|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|13/18|c.1849-16C>G||||||,C|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|11/16|c.1777-16C>G||||||,C|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000382180|protein_coding|5/10|c.814-16C>G||||||,C|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000445424|nonsense_mediated_decay|2/6|n.115-16C>G||||||,C|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000487671|retained_intron|2/3|n.224-13C>G||||||,C|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000418321|protein_coding|5/6|c.520-16C>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 31845304 . A C . . ANN=C|upstream_gene_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000464523|antisense||n.-1A>C|||||4933|,C|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|12/18|c.1768+30T>G||||||,C|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.164+22136A>C||||||,C|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|10/16|c.1243+30T>G||||||,C|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000495101|retained_intron|2/8|n.1156+30T>G||||||,C|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|12/18|c.1768+30T>G||||||,C|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|10/16|c.1696+30T>G||||||,C|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000382180|protein_coding|4/10|c.733+30T>G||||||,C|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000445424|nonsense_mediated_decay|1/6|n.34+30T>G||||||,C|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000487671|retained_intron|1/3|n.143+30T>G||||||,C|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000418321|protein_coding|4/6|c.439+30T>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 31845490 . G A . . ANN=A|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|12/19|c.1612C>T|p.Pro538Ser|1687/3544|1612/2958|538/985||,A|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|10/17|c.1087C>T|p.Pro363Ser|1245/3111|1087/2436|363/811||,A|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|12/19|c.1612C>T|p.Pro538Ser|1836/3695|1612/2958|538/985||,A|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|10/17|c.1540C>T|p.Pro514Ser|1567/3420|1540/2886|514/961||,A|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000382180|protein_coding|4/11|c.577C>T|p.Pro193Ser|587/2151|577/1923|193/640||,A|upstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000445424|nonsense_mediated_decay||n.-3C>T|||||121|,A|upstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000487671|retained_intron||n.-1C>T|||||14|,A|upstream_gene_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000464523|antisense||n.-1G>A|||||4747|,A|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.164+22322G>A||||||,A|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000418321|protein_coding|3/6|c.379-96C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000495101|retained_intron|2/9|n.1000C>T|||||| 22 31850108 . G A . . ANN=A|upstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000495101|retained_intron||n.-1C>T|||||2862|,A|upstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000445424|nonsense_mediated_decay||n.-3C>T|||||4739|,A|upstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000487671|retained_intron||n.-1C>T|||||4632|,A|upstream_gene_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000464523|antisense||n.-1G>A|||||129|,A|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|10/18|c.1512+22C>T||||||,A|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.164+26940G>A||||||,A|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|8/16|c.987+58C>T||||||,A|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|10/18|c.1512+22C>T||||||,A|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|9/16|c.1512+22C>T||||||,A|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000382180|protein_coding|3/10|c.549+22C>T||||||,A|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000418321|protein_coding|2/6|c.306+22C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 31850116 . T C . . ANN=C|upstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000495101|retained_intron||n.-1A>G|||||2870|,C|upstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000445424|nonsense_mediated_decay||n.-3A>G|||||4747|,C|upstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000487671|retained_intron||n.-1A>G|||||4640|,C|upstream_gene_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000464523|antisense||n.-1T>C|||||121|,C|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|10/18|c.1512+14A>G||||||,C|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.164+26948T>C||||||,C|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|8/16|c.987+50A>G||||||,C|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|10/18|c.1512+14A>G||||||,C|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|9/16|c.1512+14A>G||||||,C|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000382180|protein_coding|3/10|c.549+14A>G||||||,C|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000418321|protein_coding|2/6|c.306+14A>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 31850238 . G A . . ANN=A|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|10/19|c.1404C>T|p.Ala468Ala|1479/3544|1404/2958|468/985||,A|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|8/17|c.915C>T|p.Ala305Ala|1073/3111|915/2436|305/811||,A|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|10/19|c.1404C>T|p.Ala468Ala|1628/3695|1404/2958|468/985||,A|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|9/17|c.1404C>T|p.Ala468Ala|1431/3420|1404/2886|468/961||,A|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000382180|protein_coding|3/11|c.441C>T|p.Ala147Ala|451/2151|441/1923|147/640||,A|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000418321|protein_coding|2/7|c.198C>T|p.Ala66Ala|198/718|198/718|66/238||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000495101|retained_intron||n.-1C>T|||||2992|,A|upstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000445424|nonsense_mediated_decay||n.-3C>T|||||4869|,A|upstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000487671|retained_intron||n.-1C>T|||||4762|,A|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.164+27070G>A||||||,A|non_coding_exon_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000464523|antisense|1/2|n.2G>A|||||| 22 31850246 . A G . . ANN=G|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|10/19|c.1396T>C|p.Leu466Leu|1471/3544|1396/2958|466/985||,G|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|8/17|c.907T>C|p.Leu303Leu|1065/3111|907/2436|303/811||,G|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|10/19|c.1396T>C|p.Leu466Leu|1620/3695|1396/2958|466/985||,G|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|9/17|c.1396T>C|p.Leu466Leu|1423/3420|1396/2886|466/961||,G|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000382180|protein_coding|3/11|c.433T>C|p.Leu145Leu|443/2151|433/1923|145/640||,G|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000418321|protein_coding|2/7|c.190T>C|p.Leu64Leu|190/718|190/718|64/238||WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000495101|retained_intron||n.-1T>C|||||3000|,G|upstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000445424|nonsense_mediated_decay||n.-3T>C|||||4877|,G|upstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000487671|retained_intron||n.-1T>C|||||4770|,G|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.164+27078A>G||||||,G|non_coding_exon_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000464523|antisense|1/2|n.10A>G|||||| 22 31851110 . A G . . ANN=G|upstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000495101|retained_intron||n.-1T>C|||||3864|,G|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|9/18|c.1279+12T>C||||||,G|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.164+27942A>G||||||,G|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|7/16|c.790+12T>C||||||,G|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|9/18|c.1279+12T>C||||||,G|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|8/16|c.1279+12T>C||||||,G|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000382180|protein_coding|2/10|c.316+12T>C||||||,G|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000418321|protein_coding|1/6|c.73+12T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000464523|antisense|1/1|n.173+701A>G|||||| 22 31851183 . T C . . ANN=C|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|9/19|c.1218A>G|p.Lys406Lys|1293/3544|1218/2958|406/985||,C|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|7/17|c.729A>G|p.Lys243Lys|887/3111|729/2436|243/811||,C|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|9/19|c.1218A>G|p.Lys406Lys|1442/3695|1218/2958|406/985||,C|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|8/17|c.1218A>G|p.Lys406Lys|1245/3420|1218/2886|406/961||,C|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000382180|protein_coding|2/11|c.255A>G|p.Lys85Lys|265/2151|255/1923|85/640||,C|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000418321|protein_coding|1/7|c.12A>G|p.Lys4Lys|12/718|12/718|4/238||WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000495101|retained_intron||n.-1A>G|||||3937|,C|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.164+28015T>C||||||,C|intron_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000464523|antisense|1/1|n.173+774T>C|||||| 22 31851246 . A C . . ANN=C|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|9/19|c.1155T>G|p.Pro385Pro|1230/3544|1155/2958|385/985||,C|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|7/17|c.666T>G|p.Pro222Pro|824/3111|666/2436|222/811||,C|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|9/19|c.1155T>G|p.Pro385Pro|1379/3695|1155/2958|385/985||,C|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|8/17|c.1155T>G|p.Pro385Pro|1182/3420|1155/2886|385/961||,C|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000382180|protein_coding|2/11|c.192T>G|p.Pro64Pro|202/2151|192/1923|64/640||,C|upstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000495101|retained_intron||n.-1T>G|||||4000|,C|upstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000418321|protein_coding||c.-1T>G|||||52|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.164+28078A>C||||||,C|intron_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000464523|antisense|1/1|n.173+837A>C|||||| 22 31851348 . G C . . ANN=C|upstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000495101|retained_intron||n.-1C>G|||||4102|,C|upstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000418321|protein_coding||c.-1C>G|||||154|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|8/18|c.1100-47C>G||||||,C|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.164+28180G>C||||||,C|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|6/16|c.611-47C>G||||||,C|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|8/18|c.1100-47C>G||||||,C|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|7/16|c.1100-47C>G||||||,C|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000382180|protein_coding|1/10|c.137-47C>G||||||,C|intron_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000464523|antisense|1/1|n.173+939G>C|||||| 22 31851821 . A G . . ANN=G|upstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000495101|retained_intron||n.-1T>C|||||4575|,G|upstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000418321|protein_coding||c.-1T>C|||||627|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|8/18|c.1099+17T>C||||||,G|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.164+28653A>G||||||,G|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|6/16|c.610+17T>C||||||,G|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|8/18|c.1099+17T>C||||||,G|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|7/16|c.1099+17T>C||||||,G|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000382180|protein_coding|1/10|c.136+17T>C||||||,G|intron_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000464523|antisense|1/1|n.173+1412A>G|||||| 22 31854434 . AT A . . ANN=|upstream_gene_variant|MODIFIER|RP11-247I13.8|ENSG00000224623|transcript|ENST00000439588|antisense||n.-1delT|||||3215|,|upstream_gene_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000483736|antisense||n.-1delT|||||3215|,|upstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000382180|protein_coding||c.-11delA|||||2452|,|upstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000418321|protein_coding||c.-1delA|||||3241|WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|7/18|c.963+26delA||||||,|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.164+31272delT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|5/16|c.474+26delA||||||,|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|7/18|c.963+26delA||||||,|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|6/16|c.963+26delA||||||,|intron_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000464523|antisense|1/1|n.173+4031delT||||||INFO_REALIGN_3_PRIME 22 31854531 . G A . . ANN=A|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|7/19|c.893C>T|p.Pro298Leu|968/3544|893/2958|298/985||,A|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|5/17|c.404C>T|p.Pro135Leu|562/3111|404/2436|135/811||,A|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|7/19|c.893C>T|p.Pro298Leu|1117/3695|893/2958|298/985||,A|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|6/17|c.893C>T|p.Pro298Leu|920/3420|893/2886|298/961||,A|upstream_gene_variant|MODIFIER|RP11-247I13.8|ENSG00000224623|transcript|ENST00000439588|antisense||n.-1G>A|||||3119|,A|upstream_gene_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000483736|antisense||n.-1G>A|||||3119|,A|upstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000382180|protein_coding||c.-11C>T|||||2548|,A|upstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000418321|protein_coding||c.-1C>T|||||3337|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.164+31363G>A||||||,A|intron_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000464523|antisense|1/1|n.173+4122G>A|||||| 22 31854566 . C T . . ANN=T|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|7/19|c.858G>A|p.Ala286Ala|933/3544|858/2958|286/985||,T|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|5/17|c.369G>A|p.Ala123Ala|527/3111|369/2436|123/811||,T|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|7/19|c.858G>A|p.Ala286Ala|1082/3695|858/2958|286/985||,T|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|6/17|c.858G>A|p.Ala286Ala|885/3420|858/2886|286/961||,T|upstream_gene_variant|MODIFIER|RP11-247I13.8|ENSG00000224623|transcript|ENST00000439588|antisense||n.-1C>T|||||3084|,T|upstream_gene_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000483736|antisense||n.-1C>T|||||3084|,T|upstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000382180|protein_coding||c.-11G>A|||||2583|,T|upstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000418321|protein_coding||c.-1G>A|||||3372|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.164+31398C>T||||||,T|intron_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000464523|antisense|1/1|n.173+4157C>T|||||| 22 31854663 . G A . . ANN=A|upstream_gene_variant|MODIFIER|RP11-247I13.8|ENSG00000224623|transcript|ENST00000439588|antisense||n.-1G>A|||||2987|,A|upstream_gene_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000483736|antisense||n.-1G>A|||||2987|,A|upstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000382180|protein_coding||c.-11C>T|||||2680|,A|upstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000418321|protein_coding||c.-1C>T|||||3469|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|6/18|c.788-27C>T||||||,A|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.164+31495G>A||||||,A|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|4/16|c.299-27C>T||||||,A|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|6/18|c.788-27C>T||||||,A|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|5/16|c.788-27C>T||||||,A|intron_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000464523|antisense|1/1|n.173+4254G>A|||||| 22 31858975 . C T . . ANN=T|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|6/19|c.730G>A|p.Glu244Lys|805/3544|730/2958|244/985||,T|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|6/19|c.730G>A|p.Glu244Lys|954/3695|730/2958|244/985||,T|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|5/17|c.730G>A|p.Glu244Lys|757/3420|730/2886|244/961||,T|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000423097|protein_coding||c.*688G>A|||||711|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|RP11-247I13.8|ENSG00000224623|transcript|ENST00000439588|antisense|1/1|n.141-741C>T||||||,T|intron_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000483736|antisense|1/1|n.141-741C>T||||||,T|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.164+35807C>T||||||,T|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|4/16|c.299-4339G>A||||||,T|intron_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000464523|antisense|1/1|n.174-741C>T|||||| 22 31859006 . G A . . ANN=A|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|6/19|c.699C>T|p.Ile233Ile|774/3544|699/2958|233/985||,A|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|6/19|c.699C>T|p.Ile233Ile|923/3695|699/2958|233/985||,A|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|5/17|c.699C>T|p.Ile233Ile|726/3420|699/2886|233/961||,A|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000423097|protein_coding||c.*688C>T|||||680|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|RP11-247I13.8|ENSG00000224623|transcript|ENST00000439588|antisense|1/1|n.141-710G>A||||||,A|intron_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000483736|antisense|1/1|n.141-710G>A||||||,A|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.164+35838G>A||||||,A|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|4/16|c.299-4370C>T||||||,A|intron_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000464523|antisense|1/1|n.174-710G>A|||||| 22 31859135 . A G . . ANN=G|sequence_feature|LOW|EIF4ENIF1|ENSG00000184708|short_sequence_motif:Nuclear_localization_signal|ENST00000330125|protein_coding|5/19|c.586-16T>C||||||,G|sequence_feature|LOW|EIF4ENIF1|ENSG00000184708|short_sequence_motif:Nuclear_localization_signal|ENST00000330125|protein_coding|6/19|c.586-16T>C||||||,G|sequence_feature|LOW|EIF4ENIF1|ENSG00000184708|compositionally_biased_region:Arg-rich|ENST00000330125|protein_coding|5/19|c.586-16T>C||||||,G|sequence_feature|LOW|EIF4ENIF1|ENSG00000184708|compositionally_biased_region:Arg-rich|ENST00000330125|protein_coding|6/19|c.586-16T>C||||||,G|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000423097|protein_coding||c.*688T>C|||||551|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|5/18|c.586-16T>C||||||,G|intron_variant|MODIFIER|RP11-247I13.8|ENSG00000224623|transcript|ENST00000439588|antisense|1/1|n.141-581A>G||||||,G|intron_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000483736|antisense|1/1|n.141-581A>G||||||,G|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.164+35967A>G||||||,G|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|4/16|c.299-4499T>C||||||,G|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|5/18|c.586-16T>C||||||,G|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|4/16|c.586-16T>C||||||,G|intron_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000464523|antisense|1/1|n.174-581A>G|||||| 22 31859637 . TA T,TAA . . ANN=|sequence_feature|LOW|EIF4ENIF1|ENSG00000184708|short_sequence_motif:Nuclear_localization_signal|ENST00000330125|protein_coding|5/19|c.585+29delT||||||,|sequence_feature|LOW|EIF4ENIF1|ENSG00000184708|short_sequence_motif:Nuclear_localization_signal|ENST00000330125|protein_coding|6/19|c.585+29delT||||||,A|sequence_feature|LOW|EIF4ENIF1|ENSG00000184708|short_sequence_motif:Nuclear_localization_signal|ENST00000330125|protein_coding|5/19|c.585+28dupT||||||,A|sequence_feature|LOW|EIF4ENIF1|ENSG00000184708|short_sequence_motif:Nuclear_localization_signal|ENST00000330125|protein_coding|6/19|c.585+28dupT||||||,|sequence_feature|LOW|EIF4ENIF1|ENSG00000184708|compositionally_biased_region:Arg-rich|ENST00000330125|protein_coding|5/19|c.585+29delT||||||,|sequence_feature|LOW|EIF4ENIF1|ENSG00000184708|compositionally_biased_region:Arg-rich|ENST00000330125|protein_coding|6/19|c.585+29delT||||||,A|sequence_feature|LOW|EIF4ENIF1|ENSG00000184708|compositionally_biased_region:Arg-rich|ENST00000330125|protein_coding|5/19|c.585+28dupT||||||,A|sequence_feature|LOW|EIF4ENIF1|ENSG00000184708|compositionally_biased_region:Arg-rich|ENST00000330125|protein_coding|6/19|c.585+28dupT||||||,|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000423097|protein_coding||c.*688delT|||||48|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000423097|protein_coding||c.*688dupT|||||47|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397518|protein_coding||c.*251delT|||||4630|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397518|protein_coding||c.*251dupT|||||4629|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397520|protein_coding||c.*374delT|||||4630|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397520|protein_coding||c.*374dupT|||||4629|WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|5/18|c.585+29delT||||||,A|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|5/18|c.585+28dupT||||||,|intron_variant|MODIFIER|RP11-247I13.8|ENSG00000224623|transcript|ENST00000439588|antisense|1/1|n.141-57delA||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|RP11-247I13.8|ENSG00000224623|transcript|ENST00000439588|antisense|1/1|n.141-57dupA||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000483736|antisense|1/1|n.141-57delA||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000483736|antisense|1/1|n.141-57dupA||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.164+36491delA||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.164+36491dupA||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|4/16|c.298+4523delT||||||,A|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|4/16|c.298+4522dupT||||||,|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|5/18|c.585+29delT||||||,A|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|5/18|c.585+28dupT||||||,|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|4/16|c.585+29delT||||||,A|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|4/16|c.585+28dupT||||||,|intron_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000464523|antisense|1/1|n.174-57delA||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000464523|antisense|1/1|n.174-57dupA||||||INFO_REALIGN_3_PRIME 22 31859784 . G T . . ANN=T|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|5/19|c.468C>A|p.Gly156Gly|543/3544|468/2958|156/985||,T|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|5/19|c.468C>A|p.Gly156Gly|692/3695|468/2958|156/985||,T|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|4/17|c.468C>A|p.Gly156Gly|495/3420|468/2886|156/961||,T|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000423097|protein_coding|5/5|c.468C>A|p.Gly156Gly|590/688|468/566|156/187||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|EIF4ENIF1|ENSG00000184708|compositionally_biased_region:Arg-rich|ENST00000330125|protein_coding|5/19|c.468C>A||||||,T|sequence_feature|LOW|EIF4ENIF1|ENSG00000184708|compositionally_biased_region:Arg-rich|ENST00000330125|protein_coding|6/19|c.468C>A||||||,T|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397518|protein_coding||c.*251C>A|||||4484|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397520|protein_coding||c.*374C>A|||||4484|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.164+36616G>T||||||,T|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|4/16|c.298+4377C>A||||||,T|non_coding_exon_variant|MODIFIER|RP11-247I13.8|ENSG00000224623|transcript|ENST00000439588|antisense|2/2|n.209G>T||||||,T|non_coding_exon_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000483736|antisense|2/2|n.209G>T||||||,T|non_coding_exon_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000464523|antisense|2/2|n.242G>T|||||| 22 31859805 . C G . . ANN=G|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|5/19|c.447G>C|p.Leu149Leu|522/3544|447/2958|149/985||,G|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|5/19|c.447G>C|p.Leu149Leu|671/3695|447/2958|149/985||,G|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|4/17|c.447G>C|p.Leu149Leu|474/3420|447/2886|149/961||,G|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000423097|protein_coding|5/5|c.447G>C|p.Leu149Leu|569/688|447/566|149/187||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|EIF4ENIF1|ENSG00000184708|compositionally_biased_region:Arg-rich|ENST00000330125|protein_coding|5/19|c.447G>C||||||,G|sequence_feature|LOW|EIF4ENIF1|ENSG00000184708|compositionally_biased_region:Arg-rich|ENST00000330125|protein_coding|6/19|c.447G>C||||||,G|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397518|protein_coding||c.*251G>C|||||4463|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397520|protein_coding||c.*374G>C|||||4463|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.164+36637C>G||||||,G|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|4/16|c.298+4356G>C||||||,G|non_coding_exon_variant|MODIFIER|RP11-247I13.8|ENSG00000224623|transcript|ENST00000439588|antisense|2/2|n.230C>G||||||,G|non_coding_exon_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000483736|antisense|2/2|n.230C>G||||||,G|non_coding_exon_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000464523|antisense|2/2|n.263C>G|||||| 22 31859852 . G A . . ANN=A|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|5/19|c.400C>T|p.Arg134Trp|475/3544|400/2958|134/985||,A|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|5/19|c.400C>T|p.Arg134Trp|624/3695|400/2958|134/985||,A|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|4/17|c.400C>T|p.Arg134Trp|427/3420|400/2886|134/961||,A|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000423097|protein_coding|5/5|c.400C>T|p.Arg134Trp|522/688|400/566|134/187||WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397518|protein_coding||c.*251C>T|||||4416|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397520|protein_coding||c.*374C>T|||||4416|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.164+36684G>A||||||,A|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|4/16|c.298+4309C>T||||||,A|non_coding_exon_variant|MODIFIER|RP11-247I13.8|ENSG00000224623|transcript|ENST00000439588|antisense|2/2|n.277G>A||||||,A|non_coding_exon_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000483736|antisense|2/2|n.277G>A||||||,A|non_coding_exon_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000464523|antisense|2/2|n.310G>A|||||| 22 31859854 . G A . . ANN=A|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|5/19|c.398C>T|p.Ser133Phe|473/3544|398/2958|133/985||,A|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|5/19|c.398C>T|p.Ser133Phe|622/3695|398/2958|133/985||,A|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|4/17|c.398C>T|p.Ser133Phe|425/3420|398/2886|133/961||,A|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000423097|protein_coding|5/5|c.398C>T|p.Ser133Phe|520/688|398/566|133/187||WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397518|protein_coding||c.*251C>T|||||4414|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397520|protein_coding||c.*374C>T|||||4414|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.164+36686G>A||||||,A|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|4/16|c.298+4307C>T||||||,A|non_coding_exon_variant|MODIFIER|RP11-247I13.8|ENSG00000224623|transcript|ENST00000439588|antisense|2/2|n.279G>A||||||,A|non_coding_exon_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000483736|antisense|2/2|n.279G>A||||||,A|non_coding_exon_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000464523|antisense|2/2|n.312G>A|||||| 22 31859859 . A G . . ANN=G|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|5/19|c.393T>C|p.Val131Val|468/3544|393/2958|131/985||,G|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|5/19|c.393T>C|p.Val131Val|617/3695|393/2958|131/985||,G|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|4/17|c.393T>C|p.Val131Val|420/3420|393/2886|131/961||,G|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000423097|protein_coding|5/5|c.393T>C|p.Val131Val|515/688|393/566|131/187||WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397518|protein_coding||c.*251T>C|||||4409|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397520|protein_coding||c.*374T>C|||||4409|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.164+36691A>G||||||,G|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|4/16|c.298+4302T>C||||||,G|non_coding_exon_variant|MODIFIER|RP11-247I13.8|ENSG00000224623|transcript|ENST00000439588|antisense|2/2|n.284A>G||||||,G|non_coding_exon_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000483736|antisense|2/2|n.284A>G||||||,G|non_coding_exon_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000464523|antisense|2/2|n.317A>G|||||| 22 31859865 . G A . . ANN=A|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|5/19|c.387C>T|p.Ala129Ala|462/3544|387/2958|129/985||,A|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|5/19|c.387C>T|p.Ala129Ala|611/3695|387/2958|129/985||,A|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|4/17|c.387C>T|p.Ala129Ala|414/3420|387/2886|129/961||,A|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000423097|protein_coding|5/5|c.387C>T|p.Ala129Ala|509/688|387/566|129/187||WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397518|protein_coding||c.*251C>T|||||4403|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397520|protein_coding||c.*374C>T|||||4403|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.164+36697G>A||||||,A|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|4/16|c.298+4296C>T||||||,A|non_coding_exon_variant|MODIFIER|RP11-247I13.8|ENSG00000224623|transcript|ENST00000439588|antisense|2/2|n.290G>A||||||,A|non_coding_exon_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000483736|antisense|2/2|n.290G>A||||||,A|non_coding_exon_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000464523|antisense|2/2|n.323G>A|||||| 22 31859880 . G A . . ANN=A|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|5/19|c.372C>T|p.Gly124Gly|447/3544|372/2958|124/985||,A|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|5/19|c.372C>T|p.Gly124Gly|596/3695|372/2958|124/985||,A|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|4/17|c.372C>T|p.Gly124Gly|399/3420|372/2886|124/961||,A|synonymous_variant|LOW|EIF4ENIF1|ENSG00000184708|transcript|ENST00000423097|protein_coding|5/5|c.372C>T|p.Gly124Gly|494/688|372/566|124/187||WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397518|protein_coding||c.*251C>T|||||4388|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397520|protein_coding||c.*374C>T|||||4388|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.164+36712G>A||||||,A|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|4/16|c.298+4281C>T||||||,A|non_coding_exon_variant|MODIFIER|RP11-247I13.8|ENSG00000224623|transcript|ENST00000439588|antisense|2/2|n.305G>A||||||,A|non_coding_exon_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000483736|antisense|2/2|n.305G>A||||||,A|non_coding_exon_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000464523|antisense|2/2|n.338G>A|||||| 22 31864113 . C G . . ANN=G|downstream_gene_variant|MODIFIER|RP11-247I13.8|ENSG00000224623|transcript|ENST00000439588|antisense||n.*615C>G|||||3923|,G|downstream_gene_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000483736|antisense||n.*615C>G|||||3923|,G|downstream_gene_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000464523|antisense||n.*500C>G|||||4071|,G|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397518|protein_coding||c.*251G>C|||||155|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397520|protein_coding||c.*374G>C|||||155|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|4/18|c.298+48G>C||||||,G|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.165-40128C>G||||||,G|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|4/16|c.298+48G>C||||||,G|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|4/18|c.298+48G>C||||||,G|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|3/16|c.298+48G>C||||||,G|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000423097|protein_coding|4/4|c.298+48G>C||||||WARNING_TRANSCRIPT_INCOMPLETE 22 31864116 . GT G . . ANN=|downstream_gene_variant|MODIFIER|RP11-247I13.8|ENSG00000224623|transcript|ENST00000439588|antisense||n.*615delT|||||3927|,|downstream_gene_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000483736|antisense||n.*615delT|||||3927|,|downstream_gene_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000464523|antisense||n.*500delT|||||4075|,|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397518|protein_coding||c.*251delA|||||151|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397520|protein_coding||c.*374delA|||||151|WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|4/18|c.298+44delA||||||,|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.165-40124delT||||||,|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|4/16|c.298+44delA||||||,|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|4/18|c.298+44delA||||||,|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|3/16|c.298+44delA||||||,|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000423097|protein_coding|4/4|c.298+44delA||||||WARNING_TRANSCRIPT_INCOMPLETE 22 31864136 . C T . . ANN=T|downstream_gene_variant|MODIFIER|RP11-247I13.8|ENSG00000224623|transcript|ENST00000439588|antisense||n.*615C>T|||||3946|,T|downstream_gene_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000483736|antisense||n.*615C>T|||||3946|,T|downstream_gene_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000464523|antisense||n.*500C>T|||||4094|,T|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397518|protein_coding||c.*251G>A|||||132|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397520|protein_coding||c.*374G>A|||||132|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|4/18|c.298+25G>A||||||,T|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.165-40105C>T||||||,T|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|4/16|c.298+25G>A||||||,T|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|4/18|c.298+25G>A||||||,T|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|3/16|c.298+25G>A||||||,T|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000423097|protein_coding|4/4|c.298+25G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 31864150 . T A . . ANN=A|downstream_gene_variant|MODIFIER|RP11-247I13.8|ENSG00000224623|transcript|ENST00000439588|antisense||n.*615T>A|||||3960|,A|downstream_gene_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000483736|antisense||n.*615T>A|||||3960|,A|downstream_gene_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000464523|antisense||n.*500T>A|||||4108|,A|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397518|protein_coding||c.*251A>T|||||118|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397520|protein_coding||c.*374A>T|||||118|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|4/18|c.298+11A>T||||||,A|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.165-40091T>A||||||,A|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|4/16|c.298+11A>T||||||,A|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|4/18|c.298+11A>T||||||,A|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|3/16|c.298+11A>T||||||,A|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000423097|protein_coding|4/4|c.298+11A>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 31867903 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|3/19|c.97G>A|p.Glu33Lys|172/3544|97/2958|33/985||,T|missense_variant&splice_region_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|3/17|c.97G>A|p.Glu33Lys|255/3111|97/2436|33/811||,T|missense_variant&splice_region_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|3/19|c.97G>A|p.Glu33Lys|321/3695|97/2958|33/985||,T|missense_variant&splice_region_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|2/17|c.97G>A|p.Glu33Lys|124/3420|97/2886|33/961||,T|missense_variant&splice_region_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000423097|protein_coding|3/5|c.97G>A|p.Glu33Lys|219/688|97/566|33/187||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant&splice_region_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397518|protein_coding|3/4|c.97G>A|p.Glu33Lys|157/251|97/191|33/62||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant&splice_region_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397520|protein_coding|3/4|c.97G>A|p.Glu33Lys|280/374|97/191|33/62||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|EIF4ENIF1|ENSG00000184708|region_of_interest:EIF4E-binding|ENST00000330125|protein_coding|2/19|c.97G>A||||||,T|sequence_feature|LOW|EIF4ENIF1|ENSG00000184708|region_of_interest:EIF4E-binding|ENST00000330125|protein_coding|3/19|c.97G>A||||||,T|sequence_feature|LOW|EIF4ENIF1|ENSG00000184708|region_of_interest:EIF4E-binding|ENST00000344710|protein_coding|2/17|c.97G>A||||||,T|sequence_feature|LOW|EIF4ENIF1|ENSG00000184708|region_of_interest:EIF4E-binding|ENST00000344710|protein_coding|3/17|c.97G>A||||||,T|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.165-36338C>T|||||| 22 31867916 . G A . . ANN=A|sequence_feature|LOW|EIF4ENIF1|ENSG00000184708|region_of_interest:EIF4E-binding|ENST00000330125|protein_coding|2/19|c.97-13C>T||||||,A|sequence_feature|LOW|EIF4ENIF1|ENSG00000184708|region_of_interest:EIF4E-binding|ENST00000330125|protein_coding|3/19|c.97-13C>T||||||,A|sequence_feature|LOW|EIF4ENIF1|ENSG00000184708|region_of_interest:EIF4E-binding|ENST00000344710|protein_coding|2/17|c.97-13C>T||||||,A|sequence_feature|LOW|EIF4ENIF1|ENSG00000184708|region_of_interest:EIF4E-binding|ENST00000344710|protein_coding|3/17|c.97-13C>T||||||,A|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|2/18|c.97-13C>T||||||,A|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.165-36325G>A||||||,A|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|2/16|c.97-13C>T||||||,A|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|2/18|c.97-13C>T||||||,A|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|1/16|c.97-13C>T||||||,A|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000423097|protein_coding|2/4|c.97-13C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397518|protein_coding|2/3|c.97-13C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397520|protein_coding|2/3|c.97-13C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 31884693 . TCTC T . . ANN=|disruptive_inframe_deletion|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|2/19|c.9_11delGAG|p.Arg4del|86/3544|9/2958|3/985||,|disruptive_inframe_deletion|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|2/17|c.9_11delGAG|p.Arg4del|169/3111|9/2436|3/811||,|disruptive_inframe_deletion|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|2/19|c.9_11delGAG|p.Arg4del|235/3695|9/2958|3/985||,|disruptive_inframe_deletion|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|1/17|c.9_11delGAG|p.Arg4del|38/3420|9/2886|3/961||,|disruptive_inframe_deletion|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000423097|protein_coding|2/5|c.9_11delGAG|p.Arg4del|133/688|9/566|3/187||WARNING_TRANSCRIPT_INCOMPLETE,|disruptive_inframe_deletion|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397518|protein_coding|2/4|c.9_11delGAG|p.Arg4del|71/251|9/191|3/62||WARNING_TRANSCRIPT_INCOMPLETE,|disruptive_inframe_deletion|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397520|protein_coding|2/4|c.9_11delGAG|p.Arg4del|194/374|9/191|3/62||WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.165-19545_165-19543delCCT||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000465646|processed_transcript|1/3|n.23_25delCCT||||||INFO_REALIGN_3_PRIME 22 31904262 . CTT C . . ANN=|5_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|2/33|c.-7_-6delTT|||||6|INFO_REALIGN_3_PRIME,|5_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|2/29|c.-7_-6delTT|||||6|INFO_REALIGN_3_PRIME,|5_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|2/31|c.-7_-6delTT|||||6|INFO_REALIGN_3_PRIME,|5_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|2/31|c.-7_-6delTT|||||6|INFO_REALIGN_3_PRIME,|5_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|2/32|c.-7_-6delTT|||||6|INFO_REALIGN_3_PRIME,|5_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|2/29|c.-7_-6delTT|||||6|INFO_REALIGN_3_PRIME,|5_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000411518|nonsense_mediated_decay|2/5|n.-7_-6delTT|||||6|INFO_REALIGN_3_PRIME,|5_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|2/31|c.-7_-6delTT|||||6|INFO_REALIGN_3_PRIME,|5_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000444859|protein_coding|3/4|c.-7_-6delTT|||||6|WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME,|5_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|1/19|n.-7_-6delTT|||||6|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|3/4|n.*20_*21delTT|||||20|INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|3/4|n.*20_*21delTT||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000465646|processed_transcript|2/3|n.120_121delTT||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000465437|processed_transcript|2/4|n.198_199delTT||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000411518|nonsense_mediated_decay|2/5|n.-7_-6delTT||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|2/31|n.79_80delTT||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|1/19|n.-7_-6delTT||||||INFO_REALIGN_3_PRIME 22 31924798 . G A . . ANN=A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|3/33|c.215G>A|p.Arg72His|320/4002|215/3729|72/1242||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|3/31|c.215G>A|p.Arg72His|608/4086|215/3564|72/1187||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|3/32|c.215G>A|p.Arg72His|608/4162|215/3636|72/1211||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000444859|protein_coding|4/4|c.215G>A|p.Arg72His|426/449|215/238|72/78||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000450787|protein_coding|1/5|c.68G>A|p.Arg23His|68/448|68/448|23/148||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000486708|retained_intron||n.-1G>A|||||8|,A|downstream_gene_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay||n.*169G>A|||||72|,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|2/28|c.93-18049G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|2/30|c.93-18049G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|2/28|c.93-18049G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|2/30|c.93-18049G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000465646|processed_transcript|3/3|n.341G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000465437|processed_transcript|4/4|n.505G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000411518|nonsense_mediated_decay|3/5|n.215G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|3/31|n.300G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|2/19|n.215G>A|||||| 22 31924843 . G T . . ANN=T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|3/33|c.260G>T|p.Arg87Leu|365/4002|260/3729|87/1242||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|3/31|c.260G>T|p.Arg87Leu|653/4086|260/3564|87/1187||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|3/32|c.260G>T|p.Arg87Leu|653/4162|260/3636|87/1211||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000450787|protein_coding|1/5|c.113G>T|p.Arg38Leu|113/448|113/448|38/148||WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay||n.*169G>T|||||117|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000444859|protein_coding||c.*449G>T|||||22|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|2/28|c.93-18004G>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|2/30|c.93-18004G>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|2/28|c.93-18004G>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|2/30|c.93-18004G>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000465646|processed_transcript|3/3|n.386G>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000465437|processed_transcript|4/4|n.550G>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000411518|nonsense_mediated_decay|3/5|n.260G>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|3/31|n.345G>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|2/19|n.260G>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000486708|retained_intron|1/4|n.38G>T|||||| 22 31942821 . T G . . ANN=G|sequence_feature|LOW|SFI1|ENSG00000198089|interacting_region:Interaction_with_CETN2|ENST00000400288|protein_coding|5/33|c.339-26T>G||||||,G|sequence_feature|LOW|SFI1|ENSG00000198089|interacting_region:Interaction_with_CETN2|ENST00000400288|protein_coding|4/33|c.339-26T>G||||||,G|sequence_feature|LOW|SFI1|ENSG00000198089|interacting_region:Interaction_with_CETN2|ENST00000432498|protein_coding|5/32|c.339-26T>G||||||,G|sequence_feature|LOW|SFI1|ENSG00000198089|interacting_region:Interaction_with_CETN2|ENST00000432498|protein_coding|4/32|c.339-26T>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|4/32|c.339-26T>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|2/28|c.93-26T>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|2/30|c.93-26T>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|3/30|c.267-26T>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|4/31|c.339-26T>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|2/28|c.93-26T>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|2/30|c.93-26T>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|4/30|n.424-26T>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|3/18|n.339-26T>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000450787|protein_coding|2/4|c.192-3419T>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000486708|retained_intron|2/3|n.117-26T>G|||||| 22 31942829 . A AT . . ANN=T|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|4/32|c.339-8dupT||||||INFO_REALIGN_3_PRIME,T|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|2/28|c.93-8dupT||||||INFO_REALIGN_3_PRIME,T|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|2/30|c.93-8dupT||||||INFO_REALIGN_3_PRIME,T|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|3/30|c.267-8dupT||||||INFO_REALIGN_3_PRIME,T|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|4/31|c.339-8dupT||||||INFO_REALIGN_3_PRIME,T|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|2/28|c.93-8dupT||||||INFO_REALIGN_3_PRIME,T|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|2/30|c.93-8dupT||||||INFO_REALIGN_3_PRIME,T|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|4/30|n.424-8dupT||||||INFO_REALIGN_3_PRIME,T|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|3/18|n.339-8dupT||||||INFO_REALIGN_3_PRIME,T|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000486708|retained_intron|2/3|n.117-8dupT||||||INFO_REALIGN_3_PRIME,T|sequence_feature|LOW|SFI1|ENSG00000198089|interacting_region:Interaction_with_CETN2|ENST00000400288|protein_coding|5/33|c.339-18_339-17insT||||||,T|sequence_feature|LOW|SFI1|ENSG00000198089|interacting_region:Interaction_with_CETN2|ENST00000400288|protein_coding|4/33|c.339-18_339-17insT||||||,T|sequence_feature|LOW|SFI1|ENSG00000198089|interacting_region:Interaction_with_CETN2|ENST00000432498|protein_coding|5/32|c.339-18_339-17insT||||||,T|sequence_feature|LOW|SFI1|ENSG00000198089|interacting_region:Interaction_with_CETN2|ENST00000432498|protein_coding|4/32|c.339-18_339-17insT||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000450787|protein_coding|2/4|c.192-3401dupT||||||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME 22 31942837 . T C . . ANN=C|sequence_feature|LOW|SFI1|ENSG00000198089|interacting_region:Interaction_with_CETN2|ENST00000400288|protein_coding|5/33|c.339-10T>C||||||,C|sequence_feature|LOW|SFI1|ENSG00000198089|interacting_region:Interaction_with_CETN2|ENST00000400288|protein_coding|4/33|c.339-10T>C||||||,C|sequence_feature|LOW|SFI1|ENSG00000198089|interacting_region:Interaction_with_CETN2|ENST00000432498|protein_coding|5/32|c.339-10T>C||||||,C|sequence_feature|LOW|SFI1|ENSG00000198089|interacting_region:Interaction_with_CETN2|ENST00000432498|protein_coding|4/32|c.339-10T>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|4/32|c.339-10T>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|2/28|c.93-10T>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|2/30|c.93-10T>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|3/30|c.267-10T>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|4/31|c.339-10T>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|2/28|c.93-10T>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|2/30|c.93-10T>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|4/30|n.424-10T>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|3/18|n.339-10T>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000450787|protein_coding|2/4|c.192-3403T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000486708|retained_intron|2/3|n.117-10T>C|||||| 22 31942898 . G A . . ANN=A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|5/33|c.390G>A|p.Glu130Glu|495/4002|390/3729|130/1242||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|3/29|c.144G>A|p.Glu48Glu|537/3788|144/3096|48/1031||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|3/31|c.144G>A|p.Glu48Glu|537/4005|144/3483|48/1160||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|4/31|c.318G>A|p.Glu106Glu|711/4086|318/3564|106/1187||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|5/32|c.390G>A|p.Glu130Glu|783/4162|390/3636|130/1211||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|3/29|c.144G>A|p.Glu48Glu|425/3579|144/3270|48/1089||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|3/31|c.144G>A|p.Glu48Glu|270/3739|144/3483|48/1160||,A|sequence_feature|LOW|SFI1|ENSG00000198089|interacting_region:Interaction_with_CETN2|ENST00000400288|protein_coding|5/33|c.390G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|interacting_region:Interaction_with_CETN2|ENST00000400288|protein_coding|4/33|c.390G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|interacting_region:Interaction_with_CETN2|ENST00000432498|protein_coding|5/32|c.390G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|interacting_region:Interaction_with_CETN2|ENST00000432498|protein_coding|4/32|c.390G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000450787|protein_coding|2/4|c.192-3342G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|5/31|n.475G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|4/19|n.390G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000486708|retained_intron|3/4|n.168G>A|||||| 22 31942919 . C T . . ANN=T|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|5/33|c.411C>T|p.His137His|516/4002|411/3729|137/1242||,T|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|3/29|c.165C>T|p.His55His|558/3788|165/3096|55/1031||,T|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|3/31|c.165C>T|p.His55His|558/4005|165/3483|55/1160||,T|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|4/31|c.339C>T|p.His113His|732/4086|339/3564|113/1187||,T|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|5/32|c.411C>T|p.His137His|804/4162|411/3636|137/1211||,T|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|3/29|c.165C>T|p.His55His|446/3579|165/3270|55/1089||,T|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|3/31|c.165C>T|p.His55His|291/3739|165/3483|55/1160||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000450787|protein_coding|2/4|c.192-3321C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|5/31|n.496C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|4/19|n.411C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000486708|retained_intron|3/4|n.189C>T|||||| 22 31942974 . C T . . ANN=T|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_1|ENST00000400288|protein_coding|5/33|c.449+17C>T||||||,T|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_1|ENST00000400288|protein_coding|6/33|c.449+17C>T||||||,T|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_1|ENST00000540643|protein_coding|4/31|c.377+17C>T||||||,T|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_1|ENST00000540643|protein_coding|5/31|c.377+17C>T||||||,T|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_1|ENST00000432498|protein_coding|5/32|c.449+17C>T||||||,T|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_1|ENST00000432498|protein_coding|6/32|c.449+17C>T||||||,T|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_1|ENST00000400289|protein_coding|3/31|c.203+17C>T||||||,T|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_1|ENST00000400289|protein_coding|4/31|c.203+17C>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|5/32|c.449+17C>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|3/28|c.203+17C>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|3/30|c.203+17C>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|4/30|c.377+17C>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|5/31|c.449+17C>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|3/28|c.203+17C>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|3/30|c.203+17C>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|5/30|n.534+17C>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|4/18|n.449+17C>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000450787|protein_coding|2/4|c.192-3266C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000486708|retained_intron|3/3|n.227+17C>T|||||| 22 31946282 . T C . . ANN=C|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|6/33|c.492T>C|p.Tyr164Tyr|597/4002|492/3729|164/1242||,C|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|4/31|c.246T>C|p.Tyr82Tyr|639/4005|246/3483|82/1160||,C|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|5/31|c.420T>C|p.Tyr140Tyr|813/4086|420/3564|140/1187||,C|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|6/32|c.492T>C|p.Tyr164Tyr|885/4162|492/3636|164/1211||,C|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|4/31|c.246T>C|p.Tyr82Tyr|372/3739|246/3483|82/1160||,C|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000450787|protein_coding|3/5|c.234T>C|p.Tyr78Tyr|234/448|234/448|78/148||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_1|ENST00000400288|protein_coding|5/33|c.492T>C||||||,C|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_1|ENST00000400288|protein_coding|6/33|c.492T>C||||||,C|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_1|ENST00000540643|protein_coding|4/31|c.420T>C||||||,C|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_1|ENST00000540643|protein_coding|5/31|c.420T>C||||||,C|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_1|ENST00000432498|protein_coding|5/32|c.492T>C||||||,C|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_1|ENST00000432498|protein_coding|6/32|c.492T>C||||||,C|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_1|ENST00000400289|protein_coding|3/31|c.246T>C||||||,C|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_1|ENST00000400289|protein_coding|4/31|c.246T>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|3/28|c.203+3325T>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|3/28|c.203+3325T>C||||||,C|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|6/31|n.577T>C||||||,C|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|5/19|n.492T>C||||||,C|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000486708|retained_intron|4/4|n.270T>C|||||| 22 31946287 . G A . . ANN=A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|6/33|c.497G>A|p.Arg166His|602/4002|497/3729|166/1242||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|4/31|c.251G>A|p.Arg84His|644/4005|251/3483|84/1160||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|5/31|c.425G>A|p.Arg142His|818/4086|425/3564|142/1187||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|6/32|c.497G>A|p.Arg166His|890/4162|497/3636|166/1211||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|4/31|c.251G>A|p.Arg84His|377/3739|251/3483|84/1160||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000450787|protein_coding|3/5|c.239G>A|p.Arg80His|239/448|239/448|80/148||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_1|ENST00000400288|protein_coding|5/33|c.497G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_1|ENST00000400288|protein_coding|6/33|c.497G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_1|ENST00000540643|protein_coding|4/31|c.425G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_1|ENST00000540643|protein_coding|5/31|c.425G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_1|ENST00000432498|protein_coding|5/32|c.497G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_1|ENST00000432498|protein_coding|6/32|c.497G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_1|ENST00000400289|protein_coding|3/31|c.251G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_1|ENST00000400289|protein_coding|4/31|c.251G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|3/28|c.203+3330G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|3/28|c.203+3330G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|6/31|n.582G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|5/19|n.497G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000486708|retained_intron|4/4|n.275G>A|||||| 22 31946300 . G A . . ANN=A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|6/33|c.510G>A|p.Glu170Glu|615/4002|510/3729|170/1242||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|4/31|c.264G>A|p.Glu88Glu|657/4005|264/3483|88/1160||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|5/31|c.438G>A|p.Glu146Glu|831/4086|438/3564|146/1187||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|6/32|c.510G>A|p.Glu170Glu|903/4162|510/3636|170/1211||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|4/31|c.264G>A|p.Glu88Glu|390/3739|264/3483|88/1160||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000450787|protein_coding|3/5|c.252G>A|p.Glu84Glu|252/448|252/448|84/148||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_1|ENST00000400288|protein_coding|5/33|c.510G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_1|ENST00000400288|protein_coding|6/33|c.510G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_1|ENST00000540643|protein_coding|4/31|c.438G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_1|ENST00000540643|protein_coding|5/31|c.438G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_1|ENST00000432498|protein_coding|5/32|c.510G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_1|ENST00000432498|protein_coding|6/32|c.510G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_1|ENST00000400289|protein_coding|3/31|c.264G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_1|ENST00000400289|protein_coding|4/31|c.264G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|3/28|c.203+3343G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|3/28|c.203+3343G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|6/31|n.595G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|5/19|n.510G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000486708|retained_intron|4/4|n.288G>A|||||| 22 31946325 . G A . . ANN=A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|6/33|c.535G>A|p.Glu179Lys|640/4002|535/3729|179/1242||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|4/31|c.289G>A|p.Glu97Lys|682/4005|289/3483|97/1160||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|5/31|c.463G>A|p.Glu155Lys|856/4086|463/3564|155/1187||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|6/32|c.535G>A|p.Glu179Lys|928/4162|535/3636|179/1211||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|4/31|c.289G>A|p.Glu97Lys|415/3739|289/3483|97/1160||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000450787|protein_coding|3/5|c.277G>A|p.Glu93Lys|277/448|277/448|93/148||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_2|ENST00000400288|protein_coding|7/33|c.535G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_2|ENST00000400288|protein_coding|6/33|c.535G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_2|ENST00000540643|protein_coding|6/31|c.463G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_2|ENST00000540643|protein_coding|5/31|c.463G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_2|ENST00000432498|protein_coding|7/32|c.535G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_2|ENST00000432498|protein_coding|6/32|c.535G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_2|ENST00000400289|protein_coding|5/31|c.289G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_2|ENST00000400289|protein_coding|4/31|c.289G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|3/28|c.203+3368G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|3/28|c.203+3368G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|6/31|n.620G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|5/19|n.535G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000486708|retained_intron|4/4|n.313G>A|||||| 22 31952937 . A G . . ANN=G|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|7/33|c.554A>G|p.Gln185Arg|659/4002|554/3729|185/1242||,G|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|5/31|c.308A>G|p.Gln103Arg|701/4005|308/3483|103/1160||,G|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|6/31|c.482A>G|p.Gln161Arg|875/4086|482/3564|161/1187||,G|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|7/32|c.554A>G|p.Gln185Arg|947/4162|554/3636|185/1211||,G|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|5/31|c.308A>G|p.Gln103Arg|434/3739|308/3483|103/1160||,G|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000450787|protein_coding|4/5|c.296A>G|p.Gln99Arg|296/448|296/448|99/148||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_2|ENST00000400288|protein_coding|7/33|c.554A>G||||||,G|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_2|ENST00000400288|protein_coding|6/33|c.554A>G||||||,G|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_2|ENST00000540643|protein_coding|6/31|c.482A>G||||||,G|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_2|ENST00000540643|protein_coding|5/31|c.482A>G||||||,G|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_2|ENST00000432498|protein_coding|7/32|c.554A>G||||||,G|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_2|ENST00000432498|protein_coding|6/32|c.554A>G||||||,G|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_2|ENST00000400289|protein_coding|5/31|c.308A>G||||||,G|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_2|ENST00000400289|protein_coding|4/31|c.308A>G||||||,G|upstream_gene_variant|MODIFIER|RP11-247I13.3|ENSG00000214093|transcript|ENST00000445477|processed_pseudogene||n.-1A>G|||||2532|,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|3/28|c.204-4339A>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|3/28|c.204-4339A>G||||||,G|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|7/31|n.639A>G||||||,G|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|6/19|n.554A>G|||||| 22 31957291 . G A . . ANN=A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|8/33|c.678G>A|p.Thr226Thr|783/4002|678/3729|226/1242||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|4/29|c.219G>A|p.Thr73Thr|612/3788|219/3096|73/1031||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|6/31|c.432G>A|p.Thr144Thr|825/4005|432/3483|144/1160||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|7/31|c.606G>A|p.Thr202Thr|999/4086|606/3564|202/1187||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|8/32|c.678G>A|p.Thr226Thr|1071/4162|678/3636|226/1211||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|4/29|c.219G>A|p.Thr73Thr|500/3579|219/3270|73/1089||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|6/31|c.432G>A|p.Thr144Thr|558/3739|432/3483|144/1160||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000450787|protein_coding|5/5|c.420G>A|p.Thr140Thr|420/448|420/448|140/148||WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|RP11-247I13.3|ENSG00000214093|transcript|ENST00000445477|processed_pseudogene||n.*457G>A|||||1366|,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|8/31|n.763G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|7/19|n.678G>A|||||| 22 31969137 . C T . . ANN=T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|9/33|c.859C>T|p.Arg287Trp|964/4002|859/3729|287/1242||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|5/29|c.400C>T|p.Arg134Trp|793/3788|400/3096|134/1031||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|7/31|c.613C>T|p.Arg205Trp|1006/4005|613/3483|205/1160||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|8/31|c.787C>T|p.Arg263Trp|1180/4086|787/3564|263/1187||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|9/32|c.859C>T|p.Arg287Trp|1252/4162|859/3636|287/1211||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|5/29|c.400C>T|p.Arg134Trp|681/3579|400/3270|134/1089||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|7/31|c.613C>T|p.Arg205Trp|739/3739|613/3483|205/1160||,T|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_3|ENST00000400288|protein_coding|9/33|c.859C>T||||||,T|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_3|ENST00000414585|protein_coding|5/29|c.400C>T||||||,T|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_3|ENST00000540643|protein_coding|8/31|c.787C>T||||||,T|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_3|ENST00000432498|protein_coding|9/32|c.859C>T||||||,T|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_3|ENST00000400289|protein_coding|7/31|c.613C>T||||||,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay||n.-2C>T|||||23|,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000478887|retained_intron||n.-1C>T|||||4797|,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|9/31|n.944C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|8/19|n.859C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476010|retained_intron|1/4|n.389C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000484806|retained_intron|1/5|n.175C>T|||||| 22 31969182 . G A . . ANN=A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|9/33|c.904G>A|p.Val302Met|1009/4002|904/3729|302/1242||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|5/29|c.445G>A|p.Val149Met|838/3788|445/3096|149/1031||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|7/31|c.658G>A|p.Val220Met|1051/4005|658/3483|220/1160||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|8/31|c.832G>A|p.Val278Met|1225/4086|832/3564|278/1187||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|9/32|c.904G>A|p.Val302Met|1297/4162|904/3636|302/1211||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|5/29|c.445G>A|p.Val149Met|726/3579|445/3270|149/1089||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|7/31|c.658G>A|p.Val220Met|784/3739|658/3483|220/1160||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_3|ENST00000400288|protein_coding|9/33|c.904G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_3|ENST00000414585|protein_coding|5/29|c.445G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_3|ENST00000540643|protein_coding|8/31|c.832G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_3|ENST00000432498|protein_coding|9/32|c.904G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_3|ENST00000400289|protein_coding|7/31|c.658G>A||||||,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000478887|retained_intron||n.-1G>A|||||4752|,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|9/31|n.989G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|8/19|n.904G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476010|retained_intron|1/4|n.434G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000484806|retained_intron|1/5|n.220G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|1/21|n.22G>A|||||| 22 31969249 . T G . . ANN=G|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000478887|retained_intron||n.-1T>G|||||4685|,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|9/32|c.922+49T>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|5/28|c.463+49T>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|7/30|c.676+49T>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|8/30|c.850+49T>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|9/31|c.922+49T>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|5/28|c.463+49T>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|7/30|c.676+49T>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|9/30|n.1007+49T>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|8/18|n.922+49T>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476010|retained_intron|1/3|n.452+49T>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000484806|retained_intron|1/4|n.238+49T>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|1/20|n.40+49T>G|||||| 22 31971172 . A ATCT . . ANN=TCT|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000478887|retained_intron||n.-1_-1insTCT|||||2761|,TCT|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000467357|processed_transcript||n.-1_-1insTCT|||||4901|,TCT|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|9/32|c.923-44_923-42dupTCT||||||INFO_REALIGN_3_PRIME,TCT|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|5/28|c.464-44_464-42dupTCT||||||INFO_REALIGN_3_PRIME,TCT|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|7/30|c.677-44_677-42dupTCT||||||INFO_REALIGN_3_PRIME,TCT|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|8/30|c.851-44_851-42dupTCT||||||INFO_REALIGN_3_PRIME,TCT|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|9/31|c.923-44_923-42dupTCT||||||INFO_REALIGN_3_PRIME,TCT|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|5/28|c.464-44_464-42dupTCT||||||INFO_REALIGN_3_PRIME,TCT|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|7/30|c.677-44_677-42dupTCT||||||INFO_REALIGN_3_PRIME,TCT|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|9/30|n.1008-44_1008-42dupTCT||||||INFO_REALIGN_3_PRIME,TCT|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|8/18|n.922+1973_922+1975dupTCT||||||INFO_REALIGN_3_PRIME,TCT|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476010|retained_intron|1/3|n.453-44_453-42dupTCT||||||INFO_REALIGN_3_PRIME,TCT|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000484806|retained_intron|1/4|n.239-44_239-42dupTCT||||||INFO_REALIGN_3_PRIME,TCT|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|1/20|n.41-44_41-42dupTCT||||||INFO_REALIGN_3_PRIME 22 31971174 . C CTTA . . ANN=TTA|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000478887|retained_intron||n.-1_-1insTTA|||||2759|,TTA|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000467357|processed_transcript||n.-1_-1insTTA|||||4899|,TAT|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|9/32|c.923-42_923-41insTAT||||||INFO_REALIGN_3_PRIME,TAT|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|5/28|c.464-42_464-41insTAT||||||INFO_REALIGN_3_PRIME,TAT|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|7/30|c.677-42_677-41insTAT||||||INFO_REALIGN_3_PRIME,TAT|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|8/30|c.851-42_851-41insTAT||||||INFO_REALIGN_3_PRIME,TAT|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|9/31|c.923-42_923-41insTAT||||||INFO_REALIGN_3_PRIME,TAT|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|5/28|c.464-42_464-41insTAT||||||INFO_REALIGN_3_PRIME,TAT|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|7/30|c.677-42_677-41insTAT||||||INFO_REALIGN_3_PRIME,TAT|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|9/30|n.1008-42_1008-41insTAT||||||INFO_REALIGN_3_PRIME,TAT|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|8/18|n.922+1975_922+1976insTAT||||||INFO_REALIGN_3_PRIME,TAT|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476010|retained_intron|1/3|n.453-42_453-41insTAT||||||INFO_REALIGN_3_PRIME,TAT|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000484806|retained_intron|1/4|n.239-42_239-41insTAT||||||INFO_REALIGN_3_PRIME,TAT|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|1/20|n.41-42_41-41insTAT||||||INFO_REALIGN_3_PRIME 22 31971184 . G A . . ANN=A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000478887|retained_intron||n.-1G>A|||||2750|,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000467357|processed_transcript||n.-1G>A|||||4890|,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|9/32|c.923-33G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|5/28|c.464-33G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|7/30|c.677-33G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|8/30|c.851-33G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|9/31|c.923-33G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|5/28|c.464-33G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|7/30|c.677-33G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|9/30|n.1008-33G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|8/18|n.922+1984G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476010|retained_intron|1/3|n.453-33G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000484806|retained_intron|1/4|n.239-33G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|1/20|n.41-33G>A|||||| 22 31971186 . G T . . ANN=T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000478887|retained_intron||n.-1G>T|||||2748|,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000467357|processed_transcript||n.-1G>T|||||4888|,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|9/32|c.923-31G>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|5/28|c.464-31G>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|7/30|c.677-31G>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|8/30|c.851-31G>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|9/31|c.923-31G>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|5/28|c.464-31G>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|7/30|c.677-31G>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|9/30|n.1008-31G>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|8/18|n.922+1986G>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476010|retained_intron|1/3|n.453-31G>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000484806|retained_intron|1/4|n.239-31G>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|1/20|n.41-31G>T|||||| 22 31971258 . T C . . ANN=C|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|10/33|c.964T>C|p.Tyr322His|1069/4002|964/3729|322/1242||,C|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|6/29|c.505T>C|p.Tyr169His|898/3788|505/3096|169/1031||,C|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|8/31|c.718T>C|p.Tyr240His|1111/4005|718/3483|240/1160||,C|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|9/31|c.892T>C|p.Tyr298His|1285/4086|892/3564|298/1187||,C|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|10/32|c.964T>C|p.Tyr322His|1357/4162|964/3636|322/1211||,C|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|6/29|c.505T>C|p.Tyr169His|786/3579|505/3270|169/1089||,C|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|8/31|c.718T>C|p.Tyr240His|844/3739|718/3483|240/1160||,C|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000478887|retained_intron||n.-1T>C|||||2676|,C|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000467357|processed_transcript||n.-1T>C|||||4816|,C|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding||c.-1T>C|||||5000|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|8/18|n.922+2058T>C||||||,C|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|10/31|n.1049T>C||||||,C|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476010|retained_intron|2/4|n.494T>C||||||,C|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000484806|retained_intron|2/5|n.280T>C||||||,C|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|2/21|n.82T>C|||||| 22 31971276 . CA C . . ANN=|frameshift_variant|HIGH|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|10/33|c.983delA|p.Gln328fs|1088/4002|983/3729|328/1242||,|frameshift_variant|HIGH|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|6/29|c.524delA|p.Gln175fs|917/3788|524/3096|175/1031||,|frameshift_variant|HIGH|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|8/31|c.737delA|p.Gln246fs|1130/4005|737/3483|246/1160||,|frameshift_variant|HIGH|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|9/31|c.911delA|p.Gln304fs|1304/4086|911/3564|304/1187||,|frameshift_variant|HIGH|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|10/32|c.983delA|p.Gln328fs|1376/4162|983/3636|328/1211||,|frameshift_variant|HIGH|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|6/29|c.524delA|p.Gln175fs|805/3579|524/3270|175/1089||,|frameshift_variant|HIGH|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|8/31|c.737delA|p.Gln246fs|863/3739|737/3483|246/1160||,|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000478887|retained_intron||n.-1delA|||||2657|,|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000467357|processed_transcript||n.-1delA|||||4797|,|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding||c.-1delA|||||4981|WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|8/18|n.922+2077delA||||||,|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|10/31|n.1068delA||||||,|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476010|retained_intron|2/4|n.513delA||||||,|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000484806|retained_intron|2/5|n.299delA||||||,|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|2/21|n.101delA||||||;LOF=(SFI1|ENSG00000198089|31|0.23) 22 31971282 . T C . . ANN=C|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|10/33|c.988T>C|p.Trp330Arg|1093/4002|988/3729|330/1242||,C|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|6/29|c.529T>C|p.Trp177Arg|922/3788|529/3096|177/1031||,C|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|8/31|c.742T>C|p.Trp248Arg|1135/4005|742/3483|248/1160||,C|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|9/31|c.916T>C|p.Trp306Arg|1309/4086|916/3564|306/1187||,C|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|10/32|c.988T>C|p.Trp330Arg|1381/4162|988/3636|330/1211||,C|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|6/29|c.529T>C|p.Trp177Arg|810/3579|529/3270|177/1089||,C|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|8/31|c.742T>C|p.Trp248Arg|868/3739|742/3483|248/1160||,C|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000478887|retained_intron||n.-1T>C|||||2652|,C|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000467357|processed_transcript||n.-1T>C|||||4792|,C|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding||c.-1T>C|||||4976|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|8/18|n.922+2082T>C||||||,C|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|10/31|n.1073T>C||||||,C|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476010|retained_intron|2/4|n.518T>C||||||,C|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000484806|retained_intron|2/5|n.304T>C||||||,C|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|2/21|n.106T>C|||||| 22 31971332 . G A . . ANN=A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|10/33|c.1038G>A|p.Leu346Leu|1143/4002|1038/3729|346/1242||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|6/29|c.579G>A|p.Leu193Leu|972/3788|579/3096|193/1031||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|8/31|c.792G>A|p.Leu264Leu|1185/4005|792/3483|264/1160||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|9/31|c.966G>A|p.Leu322Leu|1359/4086|966/3564|322/1187||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|10/32|c.1038G>A|p.Leu346Leu|1431/4162|1038/3636|346/1211||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|6/29|c.579G>A|p.Leu193Leu|860/3579|579/3270|193/1089||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|8/31|c.792G>A|p.Leu264Leu|918/3739|792/3483|264/1160||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_4|ENST00000400288|protein_coding|10/33|c.1038G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_4|ENST00000400288|protein_coding|11/33|c.1038G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_4|ENST00000414585|protein_coding|6/29|c.579G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_4|ENST00000414585|protein_coding|7/29|c.579G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_4|ENST00000540643|protein_coding|9/31|c.966G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_4|ENST00000540643|protein_coding|10/31|c.966G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_4|ENST00000432498|protein_coding|10/32|c.1038G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_4|ENST00000432498|protein_coding|11/32|c.1038G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_4|ENST00000400289|protein_coding|8/31|c.792G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_4|ENST00000400289|protein_coding|9/31|c.792G>A||||||,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000478887|retained_intron||n.-1G>A|||||2602|,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000467357|processed_transcript||n.-1G>A|||||4742|,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding||c.-1G>A|||||4926|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|8/18|n.922+2132G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|10/31|n.1123G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476010|retained_intron|2/4|n.568G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000484806|retained_intron|2/5|n.354G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|2/21|n.156G>A|||||| 22 31971351 . C T . . ANN=T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|10/33|c.1057C>T|p.Arg353Trp|1162/4002|1057/3729|353/1242||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|6/29|c.598C>T|p.Arg200Trp|991/3788|598/3096|200/1031||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|8/31|c.811C>T|p.Arg271Trp|1204/4005|811/3483|271/1160||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|9/31|c.985C>T|p.Arg329Trp|1378/4086|985/3564|329/1187||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|10/32|c.1057C>T|p.Arg353Trp|1450/4162|1057/3636|353/1211||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|6/29|c.598C>T|p.Arg200Trp|879/3579|598/3270|200/1089||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|8/31|c.811C>T|p.Arg271Trp|937/3739|811/3483|271/1160||,T|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_4|ENST00000400288|protein_coding|10/33|c.1057C>T||||||,T|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_4|ENST00000400288|protein_coding|11/33|c.1057C>T||||||,T|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_4|ENST00000414585|protein_coding|6/29|c.598C>T||||||,T|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_4|ENST00000414585|protein_coding|7/29|c.598C>T||||||,T|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_4|ENST00000540643|protein_coding|9/31|c.985C>T||||||,T|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_4|ENST00000540643|protein_coding|10/31|c.985C>T||||||,T|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_4|ENST00000432498|protein_coding|10/32|c.1057C>T||||||,T|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_4|ENST00000432498|protein_coding|11/32|c.1057C>T||||||,T|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_4|ENST00000400289|protein_coding|8/31|c.811C>T||||||,T|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_4|ENST00000400289|protein_coding|9/31|c.811C>T||||||,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000478887|retained_intron||n.-1C>T|||||2583|,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000467357|processed_transcript||n.-1C>T|||||4723|,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding||c.-1C>T|||||4907|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|8/18|n.922+2151C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|10/31|n.1142C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476010|retained_intron|2/4|n.587C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000484806|retained_intron|2/5|n.373C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|2/21|n.175C>T|||||| 22 31971355 . G A . . ANN=A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|10/33|c.1061G>A|p.Arg354His|1166/4002|1061/3729|354/1242||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|6/29|c.602G>A|p.Arg201His|995/3788|602/3096|201/1031||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|8/31|c.815G>A|p.Arg272His|1208/4005|815/3483|272/1160||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|9/31|c.989G>A|p.Arg330His|1382/4086|989/3564|330/1187||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|10/32|c.1061G>A|p.Arg354His|1454/4162|1061/3636|354/1211||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|6/29|c.602G>A|p.Arg201His|883/3579|602/3270|201/1089||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|8/31|c.815G>A|p.Arg272His|941/3739|815/3483|272/1160||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_4|ENST00000400288|protein_coding|10/33|c.1061G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_4|ENST00000400288|protein_coding|11/33|c.1061G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_4|ENST00000414585|protein_coding|6/29|c.602G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_4|ENST00000414585|protein_coding|7/29|c.602G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_4|ENST00000540643|protein_coding|9/31|c.989G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_4|ENST00000540643|protein_coding|10/31|c.989G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_4|ENST00000432498|protein_coding|10/32|c.1061G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_4|ENST00000432498|protein_coding|11/32|c.1061G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_4|ENST00000400289|protein_coding|8/31|c.815G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_4|ENST00000400289|protein_coding|9/31|c.815G>A||||||,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000478887|retained_intron||n.-1G>A|||||2579|,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000467357|processed_transcript||n.-1G>A|||||4719|,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding||c.-1G>A|||||4903|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|8/18|n.922+2155G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|10/31|n.1146G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476010|retained_intron|2/4|n.591G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000484806|retained_intron|2/5|n.377G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|2/21|n.179G>A|||||| 22 31974397 . C A . . ANN=A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|11/33|c.1114C>A|p.Gln372Lys|1219/4002|1114/3729|372/1242||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|7/29|c.655C>A|p.Gln219Lys|1048/3788|655/3096|219/1031||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|9/31|c.868C>A|p.Gln290Lys|1261/4005|868/3483|290/1160||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|10/31|c.1042C>A|p.Gln348Lys|1435/4086|1042/3564|348/1187||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|11/32|c.1114C>A|p.Gln372Lys|1507/4162|1114/3636|372/1211||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|7/29|c.655C>A|p.Gln219Lys|936/3579|655/3270|219/1089||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|9/31|c.868C>A|p.Gln290Lys|994/3739|868/3483|290/1160||,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000467357|processed_transcript||n.-1C>A|||||1677|,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding||c.-1C>A|||||1861|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|8/18|n.922+5197C>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|11/31|n.1199C>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476010|retained_intron|3/4|n.644C>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000484806|retained_intron|3/5|n.430C>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|3/21|n.232C>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000478887|retained_intron|1/3|n.464C>A|||||| 22 31974435 . G A . . ANN=A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|11/33|c.1152G>A|p.Gln384Gln|1257/4002|1152/3729|384/1242||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|7/29|c.693G>A|p.Gln231Gln|1086/3788|693/3096|231/1031||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|9/31|c.906G>A|p.Gln302Gln|1299/4005|906/3483|302/1160||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|10/31|c.1080G>A|p.Gln360Gln|1473/4086|1080/3564|360/1187||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|11/32|c.1152G>A|p.Gln384Gln|1545/4162|1152/3636|384/1211||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|7/29|c.693G>A|p.Gln231Gln|974/3579|693/3270|231/1089||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|9/31|c.906G>A|p.Gln302Gln|1032/3739|906/3483|302/1160||,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000467357|processed_transcript||n.-1G>A|||||1639|,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding||c.-1G>A|||||1823|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|8/18|n.922+5235G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|11/31|n.1237G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476010|retained_intron|3/4|n.682G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000484806|retained_intron|3/5|n.468G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|3/21|n.270G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000478887|retained_intron|1/3|n.502G>A|||||| 22 31974468 . G A . . ANN=A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000467357|processed_transcript||n.-1G>A|||||1606|,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding||c.-1G>A|||||1790|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|11/32|c.1155+30G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|7/28|c.696+30G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|9/30|c.909+30G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|10/30|c.1083+30G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|11/31|c.1155+30G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|7/28|c.696+30G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|9/30|c.909+30G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|11/30|n.1240+30G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|8/18|n.922+5268G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476010|retained_intron|3/3|n.685+30G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000484806|retained_intron|3/4|n.471+30G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|3/20|n.273+30G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000478887|retained_intron|1/2|n.505+30G>A|||||| 22 31976235 . A G . . ANN=G|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding||c.-1A>G|||||23|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000425671|protein_coding||c.-3A>G|||||3657|WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|11/32|c.1156-23A>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|7/28|c.697-23A>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|9/30|c.910-23A>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|10/30|c.1083+1797A>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|11/31|c.1155+1797A>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|7/28|c.697-23A>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|9/30|c.910-23A>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|11/30|n.1241-23A>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|8/18|n.922+7035A>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476010|retained_intron|3/3|n.685+1797A>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000484806|retained_intron|3/4|n.472-23A>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|3/20|n.274-23A>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000478887|retained_intron|1/2|n.505+1797A>G||||||,G|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000467357|processed_transcript|1/2|n.162A>G|||||| 22 31976283 . A G . . ANN=G|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|12/33|c.1181A>G|p.Asp394Gly|1286/4002|1181/3729|394/1242||,G|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|8/29|c.722A>G|p.Asp241Gly|1115/3788|722/3096|241/1031||,G|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|10/31|c.935A>G|p.Asp312Gly|1328/4005|935/3483|312/1160||,G|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|8/29|c.722A>G|p.Asp241Gly|1003/3579|722/3270|241/1089||,G|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|10/31|c.935A>G|p.Asp312Gly|1061/3739|935/3483|312/1160||,G|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|1/16|c.26A>G|p.Asp9Gly|26/1817|26/1817|9/604||WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000425671|protein_coding||c.-3A>G|||||3609|WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|10/30|c.1083+1845A>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|11/31|c.1155+1845A>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|8/18|n.922+7083A>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476010|retained_intron|3/3|n.685+1845A>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000478887|retained_intron|1/2|n.505+1845A>G||||||,G|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|12/31|n.1266A>G||||||,G|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000484806|retained_intron|4/5|n.497A>G||||||,G|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|4/21|n.299A>G||||||,G|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000467357|processed_transcript|1/2|n.210A>G|||||| 22 31976299 . T C . . ANN=C|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|12/33|c.1197T>C|p.Ala399Ala|1302/4002|1197/3729|399/1242||,C|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|8/29|c.738T>C|p.Ala246Ala|1131/3788|738/3096|246/1031||,C|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|10/31|c.951T>C|p.Ala317Ala|1344/4005|951/3483|317/1160||,C|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|8/29|c.738T>C|p.Ala246Ala|1019/3579|738/3270|246/1089||,C|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|10/31|c.951T>C|p.Ala317Ala|1077/3739|951/3483|317/1160||,C|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|1/16|c.42T>C|p.Ala14Ala|42/1817|42/1817|14/604||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_5|ENST00000400288|protein_coding|12/33|c.1197T>C||||||,C|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_5|ENST00000400288|protein_coding|13/33|c.1197T>C||||||,C|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_5|ENST00000414585|protein_coding|8/29|c.738T>C||||||,C|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_5|ENST00000414585|protein_coding|9/29|c.738T>C||||||,C|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_5|ENST00000400289|protein_coding|10/31|c.951T>C||||||,C|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_5|ENST00000400289|protein_coding|11/31|c.951T>C||||||,C|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000425671|protein_coding||c.-3T>C|||||3593|WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|10/30|c.1083+1861T>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|11/31|c.1155+1861T>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|8/18|n.922+7099T>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476010|retained_intron|3/3|n.685+1861T>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000478887|retained_intron|1/2|n.505+1861T>C||||||,C|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|12/31|n.1282T>C||||||,C|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000484806|retained_intron|4/5|n.513T>C||||||,C|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|4/21|n.315T>C||||||,C|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000467357|processed_transcript|1/2|n.226T>C|||||| 22 31976357 . G T . . ANN=T|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|12/32|c.1248+7G>T||||||,T|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|8/28|c.789+7G>T||||||,T|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|10/30|c.1002+7G>T||||||,T|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|8/28|c.789+7G>T||||||,T|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|10/30|c.1002+7G>T||||||,T|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|12/30|n.1333+7G>T||||||,T|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000484806|retained_intron|4/4|n.564+7G>T||||||,T|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|4/20|n.366+7G>T||||||,T|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000467357|processed_transcript|1/1|n.277+7G>T||||||,T|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|1/15|c.93+7G>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_5|ENST00000400288|protein_coding|12/33|c.1248+7G>T||||||,T|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_5|ENST00000400288|protein_coding|13/33|c.1248+7G>T||||||,T|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_5|ENST00000414585|protein_coding|8/29|c.789+7G>T||||||,T|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_5|ENST00000414585|protein_coding|9/29|c.789+7G>T||||||,T|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_5|ENST00000400289|protein_coding|10/31|c.1002+7G>T||||||,T|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_5|ENST00000400289|protein_coding|11/31|c.1002+7G>T||||||,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000425671|protein_coding||c.-3G>T|||||3535|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|10/30|c.1083+1919G>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|11/31|c.1155+1919G>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|8/18|n.922+7157G>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476010|retained_intron|3/3|n.685+1919G>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000478887|retained_intron|1/2|n.505+1919G>T|||||| 22 31979911 . G T . . ANN=T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|13/33|c.1299G>T|p.Lys433Asn|1404/4002|1299/3729|433/1242||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|9/29|c.840G>T|p.Lys280Asn|1233/3788|840/3096|280/1031||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|11/31|c.1053G>T|p.Lys351Asn|1446/4005|1053/3483|351/1160||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|11/31|c.1134G>T|p.Lys378Asn|1527/4086|1134/3564|378/1187||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|12/32|c.1206G>T|p.Lys402Asn|1599/4162|1206/3636|402/1211||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|9/29|c.840G>T|p.Lys280Asn|1121/3579|840/3270|280/1089||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|11/31|c.1053G>T|p.Lys351Asn|1179/3739|1053/3483|351/1160||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|2/16|c.144G>T|p.Lys48Asn|144/1817|144/1817|48/604||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000425671|protein_coding|1/3|c.18G>T|p.Lys6Asn|20/719|18/171|6/56||WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000484806|retained_intron||n.*567G>T|||||48|,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|8/18|n.923-5522G>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|13/31|n.1384G>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476010|retained_intron|4/4|n.736G>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|5/21|n.417G>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000478887|retained_intron|2/3|n.556G>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000467357|processed_transcript|2/2|n.328G>T|||||| 22 31979937 . A T . . ANN=T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|13/33|c.1325A>T|p.His442Leu|1430/4002|1325/3729|442/1242||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|9/29|c.866A>T|p.His289Leu|1259/3788|866/3096|289/1031||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|11/31|c.1079A>T|p.His360Leu|1472/4005|1079/3483|360/1160||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|11/31|c.1160A>T|p.His387Leu|1553/4086|1160/3564|387/1187||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|12/32|c.1232A>T|p.His411Leu|1625/4162|1232/3636|411/1211||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|9/29|c.866A>T|p.His289Leu|1147/3579|866/3270|289/1089||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|11/31|c.1079A>T|p.His360Leu|1205/3739|1079/3483|360/1160||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|2/16|c.170A>T|p.His57Leu|170/1817|170/1817|57/604||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000425671|protein_coding|1/3|c.44A>T|p.His15Leu|46/719|44/171|15/56||WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476010|retained_intron||n.*745A>T|||||17|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000484806|retained_intron||n.*567A>T|||||74|,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|8/18|n.923-5496A>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|13/31|n.1410A>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|5/21|n.443A>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000478887|retained_intron|2/3|n.582A>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000467357|processed_transcript|2/2|n.354A>T|||||| 22 31981152 . T C . . ANN=C|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476010|retained_intron||n.*745T>C|||||1232|,C|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000484806|retained_intron||n.*567T>C|||||1289|,C|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000478887|retained_intron||n.*662T>C|||||40|,C|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000467357|processed_transcript||n.*372T>C|||||1197|,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|14/32|c.1413+32T>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|10/28|c.954+32T>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|12/30|c.1167+32T>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|12/30|c.1248+32T>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|13/31|c.1320+32T>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|10/28|c.954+32T>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|12/30|c.1167+32T>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|14/30|n.1498+32T>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|8/18|n.923-4281T>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|6/20|n.531+32T>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|3/15|c.258+32T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000425671|protein_coding|2/2|c.132+32T>C||||||WARNING_TRANSCRIPT_NO_START_CODON 22 31985433 . C T . . ANN=T|splice_region_variant&synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|15/33|c.1414C>T|p.Leu472Leu|1519/4002|1414/3729|472/1242||,T|splice_region_variant&synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|11/29|c.955C>T|p.Leu319Leu|1348/3788|955/3096|319/1031||,T|splice_region_variant&synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|13/31|c.1168C>T|p.Leu390Leu|1561/4005|1168/3483|390/1160||,T|splice_region_variant&synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|13/31|c.1249C>T|p.Leu417Leu|1642/4086|1249/3564|417/1187||,T|splice_region_variant&synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|14/32|c.1321C>T|p.Leu441Leu|1714/4162|1321/3636|441/1211||,T|splice_region_variant&synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|11/29|c.955C>T|p.Leu319Leu|1236/3579|955/3270|319/1089||,T|splice_region_variant&synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|13/31|c.1168C>T|p.Leu390Leu|1294/3739|1168/3483|390/1160||,T|splice_region_variant&non_coding_exon_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|15/31|n.1499C>T||||||,T|splice_region_variant&non_coding_exon_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|9/19|n.923C>T||||||,T|splice_region_variant&non_coding_exon_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|7/21|n.532C>T||||||,T|splice_region_variant&synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|4/16|c.259C>T|p.Leu87Leu|259/1817|259/1817|87/604||WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000478887|retained_intron||n.*662C>T|||||4321|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000425671|protein_coding||c.*173C>T|||||1535|WARNING_TRANSCRIPT_NO_START_CODON 22 31985498 . G T . . ANN=T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|15/33|c.1479G>T|p.Trp493Cys|1584/4002|1479/3729|493/1242||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|11/29|c.1020G>T|p.Trp340Cys|1413/3788|1020/3096|340/1031||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|13/31|c.1233G>T|p.Trp411Cys|1626/4005|1233/3483|411/1160||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|13/31|c.1314G>T|p.Trp438Cys|1707/4086|1314/3564|438/1187||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|14/32|c.1386G>T|p.Trp462Cys|1779/4162|1386/3636|462/1211||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|11/29|c.1020G>T|p.Trp340Cys|1301/3579|1020/3270|340/1089||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|13/31|c.1233G>T|p.Trp411Cys|1359/3739|1233/3483|411/1160||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|4/16|c.324G>T|p.Trp108Cys|324/1817|324/1817|108/604||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|SFI1|ENSG00000198089|interacting_region:Interaction_with_CETN2|ENST00000400288|protein_coding|15/33|c.1479G>T||||||,T|sequence_feature|LOW|SFI1|ENSG00000198089|interacting_region:Interaction_with_CETN2|ENST00000414585|protein_coding|11/29|c.1020G>T||||||,T|sequence_feature|LOW|SFI1|ENSG00000198089|interacting_region:Interaction_with_CETN2|ENST00000540643|protein_coding|13/31|c.1314G>T||||||,T|sequence_feature|LOW|SFI1|ENSG00000198089|interacting_region:Interaction_with_CETN2|ENST00000432498|protein_coding|14/32|c.1386G>T||||||,T|sequence_feature|LOW|SFI1|ENSG00000198089|interacting_region:Interaction_with_CETN2|ENST00000400289|protein_coding|13/31|c.1233G>T||||||,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000478887|retained_intron||n.*662G>T|||||4386|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000425671|protein_coding||c.*173G>T|||||1600|WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|15/31|n.1564G>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|9/19|n.988G>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|7/21|n.597G>T|||||| 22 31985517 . C T . . ANN=T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|15/33|c.1498C>T|p.Arg500Cys|1603/4002|1498/3729|500/1242||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|11/29|c.1039C>T|p.Arg347Cys|1432/3788|1039/3096|347/1031||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|13/31|c.1252C>T|p.Arg418Cys|1645/4005|1252/3483|418/1160||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|13/31|c.1333C>T|p.Arg445Cys|1726/4086|1333/3564|445/1187||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|14/32|c.1405C>T|p.Arg469Cys|1798/4162|1405/3636|469/1211||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|11/29|c.1039C>T|p.Arg347Cys|1320/3579|1039/3270|347/1089||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|13/31|c.1252C>T|p.Arg418Cys|1378/3739|1252/3483|418/1160||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|4/16|c.343C>T|p.Arg115Cys|343/1817|343/1817|115/604||WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000478887|retained_intron||n.*662C>T|||||4405|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000425671|protein_coding||c.*173C>T|||||1619|WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|15/31|n.1583C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|9/19|n.1007C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|7/21|n.616C>T|||||| 22 31985522 . C A . . ANN=A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|15/33|c.1503C>A|p.His501Gln|1608/4002|1503/3729|501/1242||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|11/29|c.1044C>A|p.His348Gln|1437/3788|1044/3096|348/1031||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|13/31|c.1257C>A|p.His419Gln|1650/4005|1257/3483|419/1160||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|13/31|c.1338C>A|p.His446Gln|1731/4086|1338/3564|446/1187||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|14/32|c.1410C>A|p.His470Gln|1803/4162|1410/3636|470/1211||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|11/29|c.1044C>A|p.His348Gln|1325/3579|1044/3270|348/1089||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|13/31|c.1257C>A|p.His419Gln|1383/3739|1257/3483|419/1160||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|4/16|c.348C>A|p.His116Gln|348/1817|348/1817|116/604||WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000478887|retained_intron||n.*662C>A|||||4410|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000425671|protein_coding||c.*173C>A|||||1624|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|15/31|n.1588C>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|9/19|n.1012C>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|7/21|n.621C>A|||||| 22 31985554 . G A . . ANN=A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|15/33|c.1535G>A|p.Arg512His|1640/4002|1535/3729|512/1242||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|11/29|c.1076G>A|p.Arg359His|1469/3788|1076/3096|359/1031||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|13/31|c.1289G>A|p.Arg430His|1682/4005|1289/3483|430/1160||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|13/31|c.1370G>A|p.Arg457His|1763/4086|1370/3564|457/1187||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|14/32|c.1442G>A|p.Arg481His|1835/4162|1442/3636|481/1211||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|11/29|c.1076G>A|p.Arg359His|1357/3579|1076/3270|359/1089||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|13/31|c.1289G>A|p.Arg430His|1415/3739|1289/3483|430/1160||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|4/16|c.380G>A|p.Arg127His|380/1817|380/1817|127/604||WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000478887|retained_intron||n.*662G>A|||||4442|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000425671|protein_coding||c.*173G>A|||||1656|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|15/31|n.1620G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|9/19|n.1044G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|7/21|n.653G>A|||||| 22 31985612 . ACT A . . ANN=|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000478887|retained_intron||n.*662_*662delCT|||||4501|,|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000425671|protein_coding||c.*173_*173delCT|||||1715|WARNING_TRANSCRIPT_NO_START_CODON,|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|15/32|c.1544+52_1544+53delCT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|11/28|c.1085+52_1085+53delCT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|13/30|c.1298+52_1298+53delCT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|13/30|c.1379+52_1379+53delCT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|14/31|c.1451+52_1451+53delCT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|11/28|c.1085+52_1085+53delCT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|13/30|c.1298+52_1298+53delCT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|15/30|n.1629+52_1629+53delCT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|9/18|n.1053+52_1053+53delCT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|7/20|n.662+52_662+53delCT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|4/15|c.389+52_389+53delCT||||||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME 22 31998158 . T G . . ANN=G|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000488883|retained_intron||n.-1T>G|||||2142|,G|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000466991|processed_transcript||n.-1T>G|||||2397|,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|15/32|c.1545-40T>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|11/28|c.1086-40T>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|13/30|c.1299-40T>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|13/30|c.1380-40T>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|14/31|c.1452-40T>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|11/28|c.1086-40T>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|13/30|c.1299-40T>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|15/30|n.1630-40T>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|9/18|n.1054-40T>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|7/20|n.663-40T>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|4/15|c.390-40T>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 31998159 . G T . . ANN=T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000488883|retained_intron||n.-1G>T|||||2141|,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000466991|processed_transcript||n.-1G>T|||||2396|,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|15/32|c.1545-39G>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|11/28|c.1086-39G>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|13/30|c.1299-39G>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|13/30|c.1380-39G>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|14/31|c.1452-39G>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|11/28|c.1086-39G>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|13/30|c.1299-39G>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|15/30|n.1630-39G>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|9/18|n.1054-39G>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|7/20|n.663-39G>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|4/15|c.390-39G>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 31998172 . G A . . ANN=A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000488883|retained_intron||n.-1G>A|||||2128|,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000466991|processed_transcript||n.-1G>A|||||2383|,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|15/32|c.1545-26G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|11/28|c.1086-26G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|13/30|c.1299-26G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|13/30|c.1380-26G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|14/31|c.1452-26G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|11/28|c.1086-26G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|13/30|c.1299-26G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|15/30|n.1630-26G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|9/18|n.1054-26G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|7/20|n.663-26G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|4/15|c.390-26G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 31998572 . C G . . ANN=G|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000488883|retained_intron||n.-1C>G|||||1728|,G|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000466991|processed_transcript||n.-1C>G|||||1983|,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|16/32|c.1627-21C>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|12/28|c.1168-21C>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|14/30|c.1381-21C>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|14/30|c.1462-21C>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|15/31|c.1534-21C>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|12/28|c.1168-21C>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|14/30|c.1381-21C>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|16/30|n.1712-21C>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|10/18|n.1136-21C>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|8/20|n.745-21C>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|5/15|c.472-21C>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 31998612 . G A . . ANN=A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|17/33|c.1646G>A|p.Arg549Gln|1751/4002|1646/3729|549/1242||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|13/29|c.1187G>A|p.Arg396Gln|1580/3788|1187/3096|396/1031||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|15/31|c.1400G>A|p.Arg467Gln|1793/4005|1400/3483|467/1160||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|15/31|c.1481G>A|p.Arg494Gln|1874/4086|1481/3564|494/1187||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|16/32|c.1553G>A|p.Arg518Gln|1946/4162|1553/3636|518/1211||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|13/29|c.1187G>A|p.Arg396Gln|1468/3579|1187/3270|396/1089||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|15/31|c.1400G>A|p.Arg467Gln|1526/3739|1400/3483|467/1160||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|6/16|c.491G>A|p.Arg164Gln|491/1817|491/1817|164/604||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000488883|retained_intron||n.-1G>A|||||1688|,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000466991|processed_transcript||n.-1G>A|||||1943|,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|17/31|n.1731G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|11/19|n.1155G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|9/21|n.764G>A|||||| 22 31998699 . CCCA C . . ANN=|disruptive_inframe_deletion|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|17/33|c.1739_1741delACC|p.His580del|1844/4002|1739/3729|580/1242||INFO_REALIGN_3_PRIME,|disruptive_inframe_deletion|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|13/29|c.1280_1282delACC|p.His427del|1673/3788|1280/3096|427/1031||INFO_REALIGN_3_PRIME,|disruptive_inframe_deletion|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|15/31|c.1493_1495delACC|p.His498del|1886/4005|1493/3483|498/1160||INFO_REALIGN_3_PRIME,|disruptive_inframe_deletion|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|15/31|c.1574_1576delACC|p.His525del|1967/4086|1574/3564|525/1187||INFO_REALIGN_3_PRIME,|disruptive_inframe_deletion|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|16/32|c.1646_1648delACC|p.His549del|2039/4162|1646/3636|549/1211||INFO_REALIGN_3_PRIME,|disruptive_inframe_deletion|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|13/29|c.1280_1282delACC|p.His427del|1561/3579|1280/3270|427/1089||INFO_REALIGN_3_PRIME,|disruptive_inframe_deletion|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|15/31|c.1493_1495delACC|p.His498del|1619/3739|1493/3483|498/1160||INFO_REALIGN_3_PRIME,|disruptive_inframe_deletion|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|6/16|c.584_586delACC|p.His195del|584/1817|584/1817|195/604||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|11/19|n.*78_*80delACC|||||78|INFO_REALIGN_3_PRIME,|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000488883|retained_intron||n.-1_-1delCCA|||||1600|,|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000466991|processed_transcript||n.-1_-1delCCA|||||1855|,|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000491973|retained_intron||n.-1_-1delCCA|||||4937|,|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|17/31|n.1824_1826delACC||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|11/19|n.*78_*80delACC||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|9/21|n.857_859delACC||||||INFO_REALIGN_3_PRIME 22 31998739 . C T . . ANN=T|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|17/33|c.1773C>T|p.Leu591Leu|1878/4002|1773/3729|591/1242||,T|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|13/29|c.1314C>T|p.Leu438Leu|1707/3788|1314/3096|438/1031||,T|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|15/31|c.1527C>T|p.Leu509Leu|1920/4005|1527/3483|509/1160||,T|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|15/31|c.1608C>T|p.Leu536Leu|2001/4086|1608/3564|536/1187||,T|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|16/32|c.1680C>T|p.Leu560Leu|2073/4162|1680/3636|560/1211||,T|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|13/29|c.1314C>T|p.Leu438Leu|1595/3579|1314/3270|438/1089||,T|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|15/31|c.1527C>T|p.Leu509Leu|1653/3739|1527/3483|509/1160||,T|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|6/16|c.618C>T|p.Leu206Leu|618/1817|618/1817|206/604||WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|11/19|n.*112C>T|||||112|,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000488883|retained_intron||n.-1C>T|||||1561|,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000466991|processed_transcript||n.-1C>T|||||1816|,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000491973|retained_intron||n.-1C>T|||||4898|,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|17/31|n.1858C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|11/19|n.*112C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|9/21|n.891C>T|||||| 22 31998808 . A C . . ANN=C|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000488883|retained_intron||n.-1A>C|||||1492|,C|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000466991|processed_transcript||n.-1A>C|||||1747|,C|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000491973|retained_intron||n.-1A>C|||||4829|,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|17/32|c.1805+37A>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|13/28|c.1346+37A>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|15/30|c.1559+37A>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|15/30|c.1640+37A>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|16/31|c.1712+37A>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|13/28|c.1346+37A>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|15/30|c.1559+37A>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|17/30|n.1890+37A>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|11/18|n.*144+37A>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|9/20|n.923+37A>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|6/15|c.650+37A>C||||||WARNING_TRANSCRIPT_INCOMPLETE 22 31999692 . TG T . . ANN=|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000488883|retained_intron||n.-1delG|||||607|,|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000466991|processed_transcript||n.-1delG|||||862|,|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000491973|retained_intron||n.-1delG|||||3944|,|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|17/32|c.1806-33delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|13/28|c.1347-33delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|15/30|c.1560-33delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|15/30|c.1641-33delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|16/31|c.1713-33delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|13/28|c.1347-33delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|15/30|c.1560-33delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|17/30|n.1891-598delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|11/18|n.*145-33delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|9/20|n.923+926delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|6/15|c.651-33delG||||||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME 22 31999846 . G C . . ANN=C|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000488883|retained_intron||n.-1G>C|||||454|,C|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000466991|processed_transcript||n.-1G>C|||||709|,C|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000491973|retained_intron||n.-1G>C|||||3791|,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|18/32|c.1881+41G>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|14/28|c.1422+41G>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|16/30|c.1635+41G>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|16/30|c.1716+41G>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|17/31|c.1788+41G>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|14/28|c.1422+41G>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|16/30|c.1635+41G>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|17/30|n.1891-449G>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|12/18|n.*220+41G>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|9/20|n.923+1075G>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|7/15|c.726+41G>C||||||WARNING_TRANSCRIPT_INCOMPLETE 22 32000271 . A G . . ANN=G|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000488883|retained_intron||n.-1A>G|||||29|,G|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000466991|processed_transcript||n.-1A>G|||||284|,G|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000491973|retained_intron||n.-1A>G|||||3366|,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|18/32|c.1882-24A>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|14/28|c.1423-24A>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|16/30|c.1636-24A>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|16/30|c.1717-24A>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|17/31|c.1789-24A>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|14/28|c.1423-24A>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|16/30|c.1636-24A>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|17/30|n.1891-24A>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|12/18|n.*220+466A>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|9/20|n.923+1500A>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|7/15|c.726+466A>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 32000307 . C T . . ANN=T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|19/33|c.1894C>T|p.Arg632Trp|1999/4002|1894/3729|632/1242||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|15/29|c.1435C>T|p.Arg479Trp|1828/3788|1435/3096|479/1031||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|17/31|c.1648C>T|p.Arg550Trp|2041/4005|1648/3483|550/1160||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|17/31|c.1729C>T|p.Arg577Trp|2122/4086|1729/3564|577/1187||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|18/32|c.1801C>T|p.Arg601Trp|2194/4162|1801/3636|601/1211||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|15/29|c.1435C>T|p.Arg479Trp|1716/3579|1435/3270|479/1089||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|17/31|c.1648C>T|p.Arg550Trp|1774/3739|1648/3483|550/1160||,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000466991|processed_transcript||n.-1C>T|||||248|,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000491973|retained_intron||n.-1C>T|||||3330|,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|12/18|n.*220+502C>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|9/20|n.923+1536C>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|7/15|c.726+502C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|18/31|n.1903C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000488883|retained_intron|1/3|n.8C>T|||||| 22 32000366 . G C . . ANN=C|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|19/33|c.1953G>C|p.Leu651Leu|2058/4002|1953/3729|651/1242||,C|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|15/29|c.1494G>C|p.Leu498Leu|1887/3788|1494/3096|498/1031||,C|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|17/31|c.1707G>C|p.Leu569Leu|2100/4005|1707/3483|569/1160||,C|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|17/31|c.1788G>C|p.Leu596Leu|2181/4086|1788/3564|596/1187||,C|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|18/32|c.1860G>C|p.Leu620Leu|2253/4162|1860/3636|620/1211||,C|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|15/29|c.1494G>C|p.Leu498Leu|1775/3579|1494/3270|498/1089||,C|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|17/31|c.1707G>C|p.Leu569Leu|1833/3739|1707/3483|569/1160||,C|sequence_feature|LOW|SFI1|ENSG00000198089|interacting_region:Interaction_with_CETN2|ENST00000400288|protein_coding|19/33|c.1953G>C||||||,C|sequence_feature|LOW|SFI1|ENSG00000198089|interacting_region:Interaction_with_CETN2|ENST00000400288|protein_coding|20/33|c.1953G>C||||||,C|sequence_feature|LOW|SFI1|ENSG00000198089|helix|ENST00000400288|protein_coding|19/33|c.1953G>C||||||,C|sequence_feature|LOW|SFI1|ENSG00000198089|interacting_region:Interaction_with_CETN2|ENST00000414585|protein_coding|15/29|c.1494G>C||||||,C|sequence_feature|LOW|SFI1|ENSG00000198089|interacting_region:Interaction_with_CETN2|ENST00000414585|protein_coding|16/29|c.1494G>C||||||,C|sequence_feature|LOW|SFI1|ENSG00000198089|helix|ENST00000414585|protein_coding|15/29|c.1494G>C||||||,C|sequence_feature|LOW|SFI1|ENSG00000198089|interacting_region:Interaction_with_CETN2|ENST00000540643|protein_coding|17/31|c.1788G>C||||||,C|sequence_feature|LOW|SFI1|ENSG00000198089|interacting_region:Interaction_with_CETN2|ENST00000540643|protein_coding|18/31|c.1788G>C||||||,C|sequence_feature|LOW|SFI1|ENSG00000198089|helix|ENST00000540643|protein_coding|17/31|c.1788G>C||||||,C|sequence_feature|LOW|SFI1|ENSG00000198089|interacting_region:Interaction_with_CETN2|ENST00000432498|protein_coding|18/32|c.1860G>C||||||,C|sequence_feature|LOW|SFI1|ENSG00000198089|interacting_region:Interaction_with_CETN2|ENST00000432498|protein_coding|19/32|c.1860G>C||||||,C|sequence_feature|LOW|SFI1|ENSG00000198089|helix|ENST00000432498|protein_coding|18/32|c.1860G>C||||||,C|sequence_feature|LOW|SFI1|ENSG00000198089|interacting_region:Interaction_with_CETN2|ENST00000400289|protein_coding|17/31|c.1707G>C||||||,C|sequence_feature|LOW|SFI1|ENSG00000198089|interacting_region:Interaction_with_CETN2|ENST00000400289|protein_coding|18/31|c.1707G>C||||||,C|sequence_feature|LOW|SFI1|ENSG00000198089|helix|ENST00000400289|protein_coding|17/31|c.1707G>C||||||,C|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000466991|processed_transcript||n.-1G>C|||||189|,C|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000491973|retained_intron||n.-1G>C|||||3271|,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|12/18|n.*221-489G>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|9/20|n.923+1595G>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|7/15|c.727-489G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|18/31|n.1962G>C||||||,C|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000488883|retained_intron|1/3|n.67G>C|||||| 22 32000872 . G A . . ANN=A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|20/33|c.1995G>A|p.Val665Val|2100/4002|1995/3729|665/1242||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|16/29|c.1536G>A|p.Val512Val|1929/3788|1536/3096|512/1031||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|18/31|c.1749G>A|p.Val583Val|2142/4005|1749/3483|583/1160||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|18/31|c.1830G>A|p.Val610Val|2223/4086|1830/3564|610/1187||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|19/32|c.1902G>A|p.Val634Val|2295/4162|1902/3636|634/1211||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|16/29|c.1536G>A|p.Val512Val|1817/3579|1536/3270|512/1089||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|18/31|c.1749G>A|p.Val583Val|1875/3739|1749/3483|583/1160||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|8/16|c.744G>A|p.Val248Val|744/1817|744/1817|248/604||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|13/19|n.*238G>A|||||2245|,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000491973|retained_intron||n.-1G>A|||||2765|,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|9/20|n.923+2101G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|19/31|n.2004G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|13/19|n.*238G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000488883|retained_intron|2/3|n.109G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000466991|processed_transcript|2/6|n.121G>A|||||| 22 32000930 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|20/33|c.2053C>T|p.Arg685Cys|2158/4002|2053/3729|685/1242||,T|missense_variant&splice_region_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|16/29|c.1594C>T|p.Arg532Cys|1987/3788|1594/3096|532/1031||,T|missense_variant&splice_region_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|18/31|c.1807C>T|p.Arg603Cys|2200/4005|1807/3483|603/1160||,T|missense_variant&splice_region_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|18/31|c.1888C>T|p.Arg630Cys|2281/4086|1888/3564|630/1187||,T|missense_variant&splice_region_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|19/32|c.1960C>T|p.Arg654Cys|2353/4162|1960/3636|654/1211||,T|missense_variant&splice_region_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|16/29|c.1594C>T|p.Arg532Cys|1875/3579|1594/3270|532/1089||,T|missense_variant&splice_region_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|18/31|c.1807C>T|p.Arg603Cys|1933/3739|1807/3483|603/1160||,T|missense_variant&splice_region_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|8/16|c.802C>T|p.Arg268Cys|802/1817|802/1817|268/604||WARNING_TRANSCRIPT_INCOMPLETE,T|splice_region_variant&non_coding_exon_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|13/19|n.*296C>T||||||,T|splice_region_variant&non_coding_exon_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000488883|retained_intron|2/3|n.167C>T||||||,T|splice_region_variant&non_coding_exon_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000466991|processed_transcript|2/6|n.179C>T||||||,T|3_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|13/19|n.*296C>T|||||2303|,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000491973|retained_intron||n.-1C>T|||||2707|,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|9/20|n.923+2159C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|19/31|n.2062C>T|||||| 22 32000938 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|20/32|c.2054+7C>T||||||,T|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|16/28|c.1595+7C>T||||||,T|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|18/30|c.1808+7C>T||||||,T|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|18/30|c.1889+7C>T||||||,T|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|19/31|c.1961+7C>T||||||,T|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|16/28|c.1595+7C>T||||||,T|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|18/30|c.1808+7C>T||||||,T|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|13/18|n.*297+7C>T||||||,T|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|8/15|c.803+7C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000488883|retained_intron|2/2|n.168+7C>T||||||,T|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000466991|processed_transcript|2/5|n.180+7C>T||||||,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000491973|retained_intron||n.-1C>T|||||2699|,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|9/20|n.923+2167C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|19/31|n.2070C>T|||||| 22 32000943 . G A . . ANN=A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000491973|retained_intron||n.-1G>A|||||2694|,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|20/32|c.2054+12G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|16/28|c.1595+12G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|18/30|c.1808+12G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|18/30|c.1889+12G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|19/31|c.1961+12G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|16/28|c.1595+12G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|18/30|c.1808+12G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|13/18|n.*297+12G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|9/20|n.923+2172G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|8/15|c.803+12G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000488883|retained_intron|2/2|n.168+12G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000466991|processed_transcript|2/5|n.180+12G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|19/31|n.2075G>A|||||| 22 32002294 . T C . . ANN=C|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000491973|retained_intron||n.-1T>C|||||1343|,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|20/32|c.2055-20T>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|16/28|c.1596-20T>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|18/30|c.1809-20T>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|18/30|c.1890-20T>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|19/31|c.1962-20T>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|16/28|c.1596-20T>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|18/30|c.1809-20T>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|13/18|n.*298-20T>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|9/20|n.924-1629T>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|8/15|c.804-20T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000488883|retained_intron|2/2|n.169-20T>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000466991|processed_transcript|2/5|n.181-20T>C||||||,C|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|19/31|n.3426T>C|||||| 22 32002351 . C G . . ANN=G|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|21/33|c.2092C>G|p.Arg698Gly|2197/4002|2092/3729|698/1242||,G|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|17/29|c.1633C>G|p.Arg545Gly|2026/3788|1633/3096|545/1031||,G|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|19/31|c.1846C>G|p.Arg616Gly|2239/4005|1846/3483|616/1160||,G|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|19/31|c.1927C>G|p.Arg643Gly|2320/4086|1927/3564|643/1187||,G|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|20/32|c.1999C>G|p.Arg667Gly|2392/4162|1999/3636|667/1211||,G|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|17/29|c.1633C>G|p.Arg545Gly|1914/3579|1633/3270|545/1089||,G|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|19/31|c.1846C>G|p.Arg616Gly|1972/3739|1846/3483|616/1160||,G|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|9/16|c.841C>G|p.Arg281Gly|841/1817|841/1817|281/604||WARNING_TRANSCRIPT_INCOMPLETE,G|3_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|14/19|n.*335C>G|||||3724|,G|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000491973|retained_intron||n.-1C>G|||||1286|,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|9/20|n.924-1572C>G||||||,G|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|19/31|n.3483C>G||||||,G|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|14/19|n.*335C>G||||||,G|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000488883|retained_intron|3/3|n.206C>G||||||,G|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000466991|processed_transcript|3/6|n.218C>G|||||| 22 32003931 . C G . . ANN=G|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|22/33|c.2166C>G|p.Val722Val|2271/4002|2166/3729|722/1242||,G|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|18/29|c.1707C>G|p.Val569Val|2100/3788|1707/3096|569/1031||,G|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|20/31|c.1920C>G|p.Val640Val|2313/4005|1920/3483|640/1160||,G|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|20/31|c.2001C>G|p.Val667Val|2394/4086|2001/3564|667/1187||,G|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|21/32|c.2073C>G|p.Val691Val|2466/4162|2073/3636|691/1211||,G|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|18/29|c.1707C>G|p.Val569Val|1988/3579|1707/3270|569/1089||,G|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|20/31|c.1920C>G|p.Val640Val|2046/3739|1920/3483|640/1160||,G|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|10/16|c.915C>G|p.Val305Val|915/1817|915/1817|305/604||WARNING_TRANSCRIPT_INCOMPLETE,G|3_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|15/19|n.*409C>G|||||5304|,G|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000463436|processed_transcript||n.-1C>G|||||3821|,G|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000495107|retained_intron||n.-1C>G|||||4828|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000488883|retained_intron||n.*567C>G|||||1219|,G|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|20/31|n.3557C>G||||||,G|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|15/19|n.*409C>G||||||,G|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|10/21|n.932C>G||||||,G|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000466991|processed_transcript|4/6|n.292C>G||||||,G|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000491973|retained_intron|1/3|n.295C>G|||||| 22 32003939 . G A . . ANN=A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|22/33|c.2174G>A|p.Arg725Gln|2279/4002|2174/3729|725/1242||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|18/29|c.1715G>A|p.Arg572Gln|2108/3788|1715/3096|572/1031||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|20/31|c.1928G>A|p.Arg643Gln|2321/4005|1928/3483|643/1160||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|20/31|c.2009G>A|p.Arg670Gln|2402/4086|2009/3564|670/1187||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|21/32|c.2081G>A|p.Arg694Gln|2474/4162|2081/3636|694/1211||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|18/29|c.1715G>A|p.Arg572Gln|1996/3579|1715/3270|572/1089||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|20/31|c.1928G>A|p.Arg643Gln|2054/3739|1928/3483|643/1160||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|10/16|c.923G>A|p.Arg308Gln|923/1817|923/1817|308/604||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|15/19|n.*417G>A|||||5312|,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000463436|processed_transcript||n.-1G>A|||||3813|,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000495107|retained_intron||n.-1G>A|||||4820|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000488883|retained_intron||n.*567G>A|||||1227|,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|20/31|n.3565G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|15/19|n.*417G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|10/21|n.940G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000466991|processed_transcript|4/6|n.300G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000491973|retained_intron|1/3|n.303G>A|||||| 22 32007091 . C G . . ANN=G|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000463436|processed_transcript||n.-1C>G|||||661|,G|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000495107|retained_intron||n.-1C>G|||||1668|,G|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript||n.-1C>G|||||2730|,G|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron||n.-1C>G|||||3062|,G|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron||n.-1C>G|||||3266|,G|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron||n.-1C>G|||||3281|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000488883|retained_intron||n.*567C>G|||||4379|,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|22/32|c.2255-38C>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|18/28|c.1796-38C>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|20/30|c.2009-38C>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|20/30|c.2090-38C>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|21/31|c.2162-38C>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|18/28|c.1796-38C>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|20/30|c.2009-38C>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|20/30|n.3646-38C>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|15/18|n.*498-38C>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|10/20|n.1021-38C>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|10/15|c.1004-38C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000466991|processed_transcript|4/5|n.381-38C>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000491973|retained_intron|1/2|n.384-38C>G|||||| 22 32007137 . C T . . ANN=T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|23/33|c.2263C>T|p.Arg755Trp|2368/4002|2263/3729|755/1242||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|19/29|c.1804C>T|p.Arg602Trp|2197/3788|1804/3096|602/1031||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|21/31|c.2017C>T|p.Arg673Trp|2410/4005|2017/3483|673/1160||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|21/31|c.2098C>T|p.Arg700Trp|2491/4086|2098/3564|700/1187||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|22/32|c.2170C>T|p.Arg724Trp|2563/4162|2170/3636|724/1211||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|19/29|c.1804C>T|p.Arg602Trp|2085/3579|1804/3270|602/1089||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|21/31|c.2017C>T|p.Arg673Trp|2143/3739|2017/3483|673/1160||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|11/16|c.1012C>T|p.Arg338Trp|1012/1817|1012/1817|338/604||WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|16/19|n.*506C>T|||||8510|,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000463436|processed_transcript||n.-1C>T|||||615|,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000495107|retained_intron||n.-1C>T|||||1622|,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript||n.-1C>T|||||2684|,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron||n.-1C>T|||||3016|,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron||n.-1C>T|||||3220|,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron||n.-1C>T|||||3235|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000488883|retained_intron||n.*567C>T|||||4425|,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|21/31|n.3654C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|16/19|n.*506C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|11/21|n.1029C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000466991|processed_transcript|5/6|n.389C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000491973|retained_intron|2/3|n.392C>T|||||| 22 32007153 . G A . . ANN=A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|23/33|c.2279G>A|p.Arg760His|2384/4002|2279/3729|760/1242||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|19/29|c.1820G>A|p.Arg607His|2213/3788|1820/3096|607/1031||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|21/31|c.2033G>A|p.Arg678His|2426/4005|2033/3483|678/1160||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|21/31|c.2114G>A|p.Arg705His|2507/4086|2114/3564|705/1187||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|22/32|c.2186G>A|p.Arg729His|2579/4162|2186/3636|729/1211||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|19/29|c.1820G>A|p.Arg607His|2101/3579|1820/3270|607/1089||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|21/31|c.2033G>A|p.Arg678His|2159/3739|2033/3483|678/1160||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|11/16|c.1028G>A|p.Arg343His|1028/1817|1028/1817|343/604||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|16/19|n.*522G>A|||||8526|,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000463436|processed_transcript||n.-1G>A|||||599|,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000495107|retained_intron||n.-1G>A|||||1606|,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript||n.-1G>A|||||2668|,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron||n.-1G>A|||||3000|,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron||n.-1G>A|||||3204|,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron||n.-1G>A|||||3219|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000488883|retained_intron||n.*567G>A|||||4441|,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|21/31|n.3670G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|16/19|n.*522G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|11/21|n.1045G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000466991|processed_transcript|5/6|n.405G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000491973|retained_intron|2/3|n.408G>A|||||| 22 32007217 . C T . . ANN=T|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|23/33|c.2343C>T|p.His781His|2448/4002|2343/3729|781/1242||,T|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|19/29|c.1884C>T|p.His628His|2277/3788|1884/3096|628/1031||,T|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|21/31|c.2097C>T|p.His699His|2490/4005|2097/3483|699/1160||,T|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|21/31|c.2178C>T|p.His726His|2571/4086|2178/3564|726/1187||,T|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|22/32|c.2250C>T|p.His750His|2643/4162|2250/3636|750/1211||,T|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|19/29|c.1884C>T|p.His628His|2165/3579|1884/3270|628/1089||,T|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|21/31|c.2097C>T|p.His699His|2223/3739|2097/3483|699/1160||,T|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|11/16|c.1092C>T|p.His364His|1092/1817|1092/1817|364/604||WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|16/19|n.*586C>T|||||8590|,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000463436|processed_transcript||n.-1C>T|||||535|,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000495107|retained_intron||n.-1C>T|||||1542|,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript||n.-1C>T|||||2604|,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron||n.-1C>T|||||2936|,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron||n.-1C>T|||||3140|,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron||n.-1C>T|||||3155|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000488883|retained_intron||n.*567C>T|||||4505|,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|21/31|n.3734C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|16/19|n.*586C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|11/21|n.1109C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000466991|processed_transcript|5/6|n.469C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000491973|retained_intron|2/3|n.472C>T|||||| 22 32007264 . A T . . ANN=T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|23/33|c.2390A>T|p.His797Leu|2495/4002|2390/3729|797/1242||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|19/29|c.1931A>T|p.His644Leu|2324/3788|1931/3096|644/1031||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|21/31|c.2144A>T|p.His715Leu|2537/4005|2144/3483|715/1160||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|21/31|c.2225A>T|p.His742Leu|2618/4086|2225/3564|742/1187||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|22/32|c.2297A>T|p.His766Leu|2690/4162|2297/3636|766/1211||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|19/29|c.1931A>T|p.His644Leu|2212/3579|1931/3270|644/1089||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|21/31|c.2144A>T|p.His715Leu|2270/3739|2144/3483|715/1160||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|11/16|c.1139A>T|p.His380Leu|1139/1817|1139/1817|380/604||WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|16/19|n.*633A>T|||||8637|,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000463436|processed_transcript||n.-1A>T|||||488|,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000495107|retained_intron||n.-1A>T|||||1495|,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript||n.-1A>T|||||2557|,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron||n.-1A>T|||||2889|,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron||n.-1A>T|||||3093|,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron||n.-1A>T|||||3108|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000488883|retained_intron||n.*567A>T|||||4552|,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|21/31|n.3781A>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|16/19|n.*633A>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|11/21|n.1156A>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000466991|processed_transcript|5/6|n.516A>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000491973|retained_intron|2/3|n.519A>T|||||| 22 32007810 . G A . . ANN=A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|24/33|c.2474G>A|p.Arg825His|2579/4002|2474/3729|825/1242||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|20/29|c.2015G>A|p.Arg672His|2408/3788|2015/3096|672/1031||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|22/31|c.2228G>A|p.Arg743His|2621/4005|2228/3483|743/1160||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|22/31|c.2309G>A|p.Arg770His|2702/4086|2309/3564|770/1187||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|23/32|c.2381G>A|p.Arg794His|2774/4162|2381/3636|794/1211||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|20/29|c.2015G>A|p.Arg672His|2296/3579|2015/3270|672/1089||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|22/31|c.2228G>A|p.Arg743His|2354/3739|2228/3483|743/1160||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|12/16|c.1223G>A|p.Arg408His|1223/1817|1223/1817|408/604||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|17/19|n.*717G>A|||||9183|,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000495107|retained_intron||n.-1G>A|||||949|,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript||n.-1G>A|||||2011|,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron||n.-1G>A|||||2343|,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron||n.-1G>A|||||2547|,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron||n.-1G>A|||||2562|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000466991|processed_transcript||n.*545G>A|||||55|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000491973|retained_intron||n.*580G>A|||||23|,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|22/31|n.3865G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|17/19|n.*717G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|12/21|n.1240G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000463436|processed_transcript|1/2|n.59G>A|||||| 22 32007863 . C T . . ANN=T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000495107|retained_intron||n.-1C>T|||||896|,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript||n.-1C>T|||||1958|,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron||n.-1C>T|||||2290|,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron||n.-1C>T|||||2494|,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron||n.-1C>T|||||2509|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000466991|processed_transcript||n.*545C>T|||||108|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000491973|retained_intron||n.*580C>T|||||76|,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|24/32|c.2490+37C>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|20/28|c.2031+37C>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|22/30|c.2244+37C>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|22/30|c.2325+37C>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|23/31|c.2397+37C>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|20/28|c.2031+37C>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|22/30|c.2244+37C>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|22/30|n.3881+37C>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|17/18|n.*733+37C>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|12/20|n.1256+37C>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|12/15|c.1239+37C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000463436|processed_transcript|1/1|n.75+37C>T|||||| 22 32007867 . A G . . ANN=G|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000495107|retained_intron||n.-1A>G|||||892|,G|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript||n.-1A>G|||||1954|,G|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron||n.-1A>G|||||2286|,G|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron||n.-1A>G|||||2490|,G|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron||n.-1A>G|||||2505|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000466991|processed_transcript||n.*545A>G|||||112|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000491973|retained_intron||n.*580A>G|||||80|,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|24/32|c.2490+41A>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|20/28|c.2031+41A>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|22/30|c.2244+41A>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|22/30|c.2325+41A>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|23/31|c.2397+41A>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|20/28|c.2031+41A>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|22/30|c.2244+41A>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|22/30|n.3881+41A>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|17/18|n.*733+41A>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|12/20|n.1256+41A>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|12/15|c.1239+41A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000463436|processed_transcript|1/1|n.75+41A>G|||||| 22 32007869 . C T . . ANN=T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000495107|retained_intron||n.-1C>T|||||890|,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript||n.-1C>T|||||1952|,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron||n.-1C>T|||||2284|,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron||n.-1C>T|||||2488|,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron||n.-1C>T|||||2503|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000466991|processed_transcript||n.*545C>T|||||114|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000491973|retained_intron||n.*580C>T|||||82|,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|24/32|c.2490+43C>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|20/28|c.2031+43C>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|22/30|c.2244+43C>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|22/30|c.2325+43C>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|23/31|c.2397+43C>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|20/28|c.2031+43C>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|22/30|c.2244+43C>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|22/30|n.3881+43C>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|17/18|n.*733+43C>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|12/20|n.1256+43C>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|12/15|c.1239+43C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000463436|processed_transcript|1/1|n.75+43C>T|||||| 22 32009184 . C A . . ANN=A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|25/33|c.2547C>A|p.Ala849Ala|2652/4002|2547/3729|849/1242||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|21/29|c.2088C>A|p.Ala696Ala|2481/3788|2088/3096|696/1031||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|23/31|c.2301C>A|p.Ala767Ala|2694/4005|2301/3483|767/1160||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|23/31|c.2382C>A|p.Ala794Ala|2775/4086|2382/3564|794/1187||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|24/32|c.2454C>A|p.Ala818Ala|2847/4162|2454/3636|818/1211||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|21/29|c.2088C>A|p.Ala696Ala|2369/3579|2088/3270|696/1089||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|23/31|c.2301C>A|p.Ala767Ala|2427/3739|2301/3483|767/1160||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|13/16|c.1296C>A|p.Ala432Ala|1296/1817|1296/1817|432/604||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|18/19|n.*790C>A|||||10557|,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript||n.-1C>A|||||637|,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron||n.-1C>A|||||969|,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron||n.-1C>A|||||1173|,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron||n.-1C>A|||||1188|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000466991|processed_transcript||n.*545C>A|||||1429|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000491973|retained_intron||n.*580C>A|||||1397|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000463436|processed_transcript||n.*519C>A|||||756|,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|23/31|n.3938C>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|18/19|n.*790C>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|13/21|n.1313C>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000495107|retained_intron|1/3|n.426C>A|||||| 22 32009308 . G C . . ANN=C|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript||n.-1G>C|||||513|,C|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron||n.-1G>C|||||845|,C|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron||n.-1G>C|||||1049|,C|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron||n.-1G>C|||||1064|,C|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000466991|processed_transcript||n.*545G>C|||||1553|,C|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000491973|retained_intron||n.*580G>C|||||1521|,C|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000463436|processed_transcript||n.*519G>C|||||880|,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|25/32|c.2566-32G>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|21/28|c.2107-32G>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|23/30|c.2320-32G>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|23/30|c.2401-32G>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|24/31|c.2473-32G>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|21/28|c.2107-32G>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|23/30|c.2320-32G>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|23/30|n.3957-32G>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|18/18|n.*809-32G>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|13/20|n.1332-32G>C||||||,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|13/15|c.1315-32G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000495107|retained_intron|1/2|n.445-32G>C|||||| 22 32009328 . C T . . ANN=T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript||n.-1C>T|||||493|,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron||n.-1C>T|||||825|,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron||n.-1C>T|||||1029|,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron||n.-1C>T|||||1044|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000466991|processed_transcript||n.*545C>T|||||1573|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000491973|retained_intron||n.*580C>T|||||1541|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000463436|processed_transcript||n.*519C>T|||||900|,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|25/32|c.2566-12C>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|21/28|c.2107-12C>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|23/30|c.2320-12C>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|23/30|c.2401-12C>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|24/31|c.2473-12C>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|21/28|c.2107-12C>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|23/30|c.2320-12C>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|23/30|n.3957-12C>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|18/18|n.*809-12C>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|13/20|n.1332-12C>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|13/15|c.1315-12C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000495107|retained_intron|1/2|n.445-12C>T|||||| 22 32009455 . T G . . ANN=G|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|26/33|c.2681T>G|p.Leu894Arg|2786/4002|2681/3729|894/1242||,G|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|22/29|c.2222T>G|p.Leu741Arg|2615/3788|2222/3096|741/1031||,G|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|24/31|c.2435T>G|p.Leu812Arg|2828/4005|2435/3483|812/1160||,G|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|24/31|c.2516T>G|p.Leu839Arg|2909/4086|2516/3564|839/1187||,G|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|25/32|c.2588T>G|p.Leu863Arg|2981/4162|2588/3636|863/1211||,G|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|22/29|c.2222T>G|p.Leu741Arg|2503/3579|2222/3270|741/1089||,G|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|24/31|c.2435T>G|p.Leu812Arg|2561/3739|2435/3483|812/1160||,G|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|14/16|c.1430T>G|p.Leu477Arg|1430/1817|1430/1817|477/604||WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript||n.-1T>G|||||366|,G|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron||n.-1T>G|||||698|,G|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron||n.-1T>G|||||902|,G|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron||n.-1T>G|||||917|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay||n.*1200T>G|||||16|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000466991|processed_transcript||n.*545T>G|||||1700|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000491973|retained_intron||n.*580T>G|||||1668|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000463436|processed_transcript||n.*519T>G|||||1027|,G|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|24/31|n.4072T>G||||||,G|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|14/21|n.1447T>G||||||,G|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000495107|retained_intron|2/3|n.560T>G|||||| 22 32009521 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|26/32|c.2742+5G>A||||||,A|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|22/28|c.2283+5G>A||||||,A|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|24/30|c.2496+5G>A||||||,A|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|24/30|c.2577+5G>A||||||,A|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|25/31|c.2649+5G>A||||||,A|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|22/28|c.2283+5G>A||||||,A|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|24/30|c.2496+5G>A||||||,A|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|24/30|n.4133+5G>A||||||,A|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|14/20|n.*41+5G>A||||||,A|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|14/15|c.1491+5G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000495107|retained_intron|2/2|n.621+5G>A||||||,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript||n.-1G>A|||||300|,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron||n.-1G>A|||||632|,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron||n.-1G>A|||||836|,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron||n.-1G>A|||||851|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay||n.*1200G>A|||||82|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000466991|processed_transcript||n.*545G>A|||||1766|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000491973|retained_intron||n.*580G>A|||||1734|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000463436|processed_transcript||n.*519G>A|||||1093|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding||c.*1548C>T|||||4956|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron||n.*2534C>T|||||4956|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay||n.*184C>T|||||4976|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding||c.*1558C>T|||||4980| 22 32009869 . C T . . ANN=T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron||n.-1C>T|||||284|,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron||n.-1C>T|||||488|,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron||n.-1C>T|||||503|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay||n.*1200C>T|||||430|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000466991|processed_transcript||n.*545C>T|||||2114|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000491973|retained_intron||n.*580C>T|||||2082|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000463436|processed_transcript||n.*519C>T|||||1441|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000495107|retained_intron||n.*735C>T|||||168|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding||c.*1548G>A|||||4608|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron||n.*2534G>A|||||4608|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay||n.*184G>A|||||4628|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding||c.*1558G>A|||||4632|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron||n.*2378G>A|||||4676|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding||c.*1018G>A|||||4731|,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|27/32|c.2996+28C>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|23/28|c.2537+28C>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|25/30|c.2750+28C>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|25/30|c.2831+28C>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|26/31|c.2903+28C>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|23/28|c.2537+28C>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|25/30|c.2750+28C>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|25/30|n.4387+28C>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|15/20|n.*295+28C>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|15/15|c.1745+28C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript|1/5|n.21+28C>T|||||| 22 32010772 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|27/32|c.2997-3C>T||||||,T|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|23/28|c.2538-3C>T||||||,T|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|25/30|c.2751-3C>T||||||,T|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|25/30|c.2832-3C>T||||||,T|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|26/31|c.2904-3C>T||||||,T|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|23/28|c.2538-3C>T||||||,T|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|25/30|c.2751-3C>T||||||,T|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|25/30|n.4388-3C>T||||||,T|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|15/20|n.*296-3C>T||||||,T|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|15/15|c.1746-3C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript|1/5|n.22-3C>T||||||,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding||c.*1454G>A|||||4317|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay||n.*1200C>T|||||1333|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000466991|processed_transcript||n.*545C>T|||||3017|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000491973|retained_intron||n.*580C>T|||||2985|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000463436|processed_transcript||n.*519C>T|||||2344|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000495107|retained_intron||n.*735C>T|||||1071|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding||c.*1548G>A|||||3705|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron||n.*2534G>A|||||3705|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay||n.*184G>A|||||3725|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding||c.*1558G>A|||||3729|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron||n.*2378G>A|||||3773|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding||c.*1018G>A|||||3828|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding||c.*1088G>A|||||4191|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding||c.*1227G>A|||||4317|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron||n.*1760G>A|||||4658|,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron|1/6|n.620C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron|1/3|n.416C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron|1/5|n.401C>T|||||| 22 32011118 . G A . . ANN=A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|29/33|c.3153G>A|p.Pro1051Pro|3258/4002|3153/3729|1051/1242||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|25/29|c.2694G>A|p.Pro898Pro|3087/3788|2694/3096|898/1031||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|27/31|c.2907G>A|p.Pro969Pro|3300/4005|2907/3483|969/1160||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|27/31|c.2988G>A|p.Pro996Pro|3381/4086|2988/3564|996/1187||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|28/32|c.3060G>A|p.Pro1020Pro|3453/4162|3060/3636|1020/1211||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|25/29|c.2694G>A|p.Pro898Pro|2975/3579|2694/3270|898/1089||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|27/31|c.2907G>A|p.Pro969Pro|3033/3739|2907/3483|969/1160||,A|3_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|17/21|n.*452G>A|||||1643|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding||c.*1454C>T|||||3971|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay||n.*1200G>A|||||1679|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding||c.*1817G>A|||||272|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000466991|processed_transcript||n.*545G>A|||||3363|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000491973|retained_intron||n.*580G>A|||||3331|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000463436|processed_transcript||n.*519G>A|||||2690|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000495107|retained_intron||n.*735G>A|||||1417|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding||c.*1548C>T|||||3359|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron||n.*2534C>T|||||3359|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay||n.*184C>T|||||3379|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding||c.*1558C>T|||||3383|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron||n.*2378C>T|||||3427|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding||c.*1018C>T|||||3482|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding||c.*1088C>T|||||3845|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding||c.*1227C>T|||||3971|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron||n.*1760C>T|||||4312|,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|27/31|n.4544G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|17/21|n.*452G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript|3/6|n.178G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron|2/6|n.779G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron|1/3|n.762G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron|1/5|n.747G>A|||||| 22 32011225 . T C . . ANN=C|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|29/33|c.3260T>C|p.Leu1087Pro|3365/4002|3260/3729|1087/1242||,C|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|25/29|c.2801T>C|p.Leu934Pro|3194/3788|2801/3096|934/1031||,C|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|27/31|c.3014T>C|p.Leu1005Pro|3407/4005|3014/3483|1005/1160||,C|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|27/31|c.3095T>C|p.Leu1032Pro|3488/4086|3095/3564|1032/1187||,C|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|28/32|c.3167T>C|p.Leu1056Pro|3560/4162|3167/3636|1056/1211||,C|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|25/29|c.2801T>C|p.Leu934Pro|3082/3579|2801/3270|934/1089||,C|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|27/31|c.3014T>C|p.Leu1005Pro|3140/3739|3014/3483|1005/1160||,C|3_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|17/21|n.*559T>C|||||1750|,C|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding||c.*1454A>G|||||3864|,C|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay||n.*1200T>C|||||1786|,C|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding||c.*1817T>C|||||379|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000466991|processed_transcript||n.*545T>C|||||3470|,C|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000491973|retained_intron||n.*580T>C|||||3438|,C|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000463436|processed_transcript||n.*519T>C|||||2797|,C|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000495107|retained_intron||n.*735T>C|||||1524|,C|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding||c.*1548A>G|||||3252|,C|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron||n.*2534A>G|||||3252|,C|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay||n.*184A>G|||||3272|,C|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding||c.*1558A>G|||||3276|,C|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron||n.*2378A>G|||||3320|,C|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding||c.*1018A>G|||||3375|,C|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding||c.*1088A>G|||||3738|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding||c.*1227A>G|||||3864|,C|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron||n.*1760A>G|||||4205|,C|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|27/31|n.4651T>C||||||,C|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|17/21|n.*559T>C||||||,C|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript|3/6|n.285T>C||||||,C|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron|2/6|n.886T>C||||||,C|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron|1/3|n.869T>C||||||,C|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron|1/5|n.854T>C|||||| 22 32011250 . G A . . ANN=A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|29/33|c.3285G>A|p.Ala1095Ala|3390/4002|3285/3729|1095/1242||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|25/29|c.2826G>A|p.Ala942Ala|3219/3788|2826/3096|942/1031||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|27/31|c.3039G>A|p.Ala1013Ala|3432/4005|3039/3483|1013/1160||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|27/31|c.3120G>A|p.Ala1040Ala|3513/4086|3120/3564|1040/1187||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|28/32|c.3192G>A|p.Ala1064Ala|3585/4162|3192/3636|1064/1211||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|25/29|c.2826G>A|p.Ala942Ala|3107/3579|2826/3270|942/1089||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|27/31|c.3039G>A|p.Ala1013Ala|3165/3739|3039/3483|1013/1160||,A|3_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|17/21|n.*584G>A|||||1775|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding||c.*1454C>T|||||3839|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay||n.*1200G>A|||||1811|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding||c.*1817G>A|||||404|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000466991|processed_transcript||n.*545G>A|||||3495|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000491973|retained_intron||n.*580G>A|||||3463|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000463436|processed_transcript||n.*519G>A|||||2822|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000495107|retained_intron||n.*735G>A|||||1549|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding||c.*1548C>T|||||3227|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron||n.*2534C>T|||||3227|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay||n.*184C>T|||||3247|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding||c.*1558C>T|||||3251|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron||n.*2378C>T|||||3295|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding||c.*1018C>T|||||3350|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding||c.*1088C>T|||||3713|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding||c.*1227C>T|||||3839|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron||n.*1760C>T|||||4180|,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|27/31|n.4676G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|17/21|n.*584G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript|3/6|n.310G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron|2/6|n.911G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron|1/3|n.894G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron|1/5|n.879G>A|||||| 22 32012878 . C CCTGA . . ANN=CTGA|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding||c.*1454_*1454insTCAG|||||2210|,CTGA|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay||n.*1200_*1200insCTGA|||||3440|,CTGA|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding||c.*1817_*1817insCTGA|||||2033|WARNING_TRANSCRIPT_INCOMPLETE,CTGA|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000463436|processed_transcript||n.*519_*519insCTGA|||||4451|,CTGA|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000495107|retained_intron||n.*735_*735insCTGA|||||3178|,CTGA|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding||c.*1548_*1548insTCAG|||||1598|,CTGA|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron||n.*2534_*2534insTCAG|||||1598|,CTGA|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay||n.*184_*184insTCAG|||||1618|,CTGA|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding||c.*1558_*1558insTCAG|||||1622|,CTGA|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron||n.*2378_*2378insTCAG|||||1666|,CTGA|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding||c.*1018_*1018insTCAG|||||1721|,CTGA|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding||c.*1088_*1088insTCAG|||||2084|WARNING_TRANSCRIPT_NO_START_CODON,CTGA|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding||c.*1227_*1227insTCAG|||||2210|,CTGA|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron||n.*1760_*1760insTCAG|||||2551|,CTGA|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript||n.*1056_*1056insTCAG|||||3660|,CTGA|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript||n.*692_*692insTCAG|||||3685|,CTGA|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding||c.*1015_*1015insTCAG|||||4161|WARNING_TRANSCRIPT_NO_STOP_CODON,CTGA|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding||c.*722_*722insTCAG|||||4969|WARNING_TRANSCRIPT_NO_STOP_CODON,ACTG|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|30/32|c.3433+18_3433+19insACTG||||||INFO_REALIGN_3_PRIME,ACTG|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|26/28|c.2974+18_2974+19insACTG||||||INFO_REALIGN_3_PRIME,ACTG|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|28/30|c.3187+18_3187+19insACTG||||||INFO_REALIGN_3_PRIME,ACTG|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|28/30|c.3268+18_3268+19insACTG||||||INFO_REALIGN_3_PRIME,ACTG|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|29/31|c.3340+18_3340+19insACTG||||||INFO_REALIGN_3_PRIME,ACTG|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|26/28|c.2974+18_2974+19insACTG||||||INFO_REALIGN_3_PRIME,ACTG|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|28/30|c.3187+18_3187+19insACTG||||||INFO_REALIGN_3_PRIME,ACTG|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|28/30|n.4824+18_4824+19insACTG||||||INFO_REALIGN_3_PRIME,ACTG|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|18/20|n.*732+18_*732+19insACTG||||||INFO_REALIGN_3_PRIME,ACTG|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript|4/5|n.458+18_458+19insACTG||||||INFO_REALIGN_3_PRIME,ACTG|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron|3/5|n.1059+18_1059+19insACTG||||||INFO_REALIGN_3_PRIME,ACTG|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron|1/2|n.2507+18_2507+19insACTG||||||INFO_REALIGN_3_PRIME,ACTG|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron|2/4|n.1027+18_1027+19insACTG||||||INFO_REALIGN_3_PRIME 22 32014129 . C T . . ANN=T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|32/33|c.3541C>T|p.Arg1181Cys|3646/4002|3541/3729|1181/1242||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|30/31|c.3295C>T|p.Arg1099Cys|3688/4005|3295/3483|1099/1160||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|30/31|c.3376C>T|p.Arg1126Cys|3769/4086|3376/3564|1126/1187||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|31/32|c.3448C>T|p.Arg1150Cys|3841/4162|3448/3636|1150/1211||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|28/29|c.3082C>T|p.Arg1028Cys|3363/3579|3082/3270|1028/1089||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|30/31|c.3295C>T|p.Arg1099Cys|3421/3739|3295/3483|1099/1160||,T|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|28/29|c.3078C>T|p.Cys1026Cys|3471/3788|3078/3096|1026/1031||,T|3_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|20/21|n.*840C>T|||||4654|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding||c.*1454G>A|||||960|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay||n.*1200C>T|||||4690|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding||c.*1817C>T|||||3283|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000495107|retained_intron||n.*735C>T|||||4428|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding||c.*1548G>A|||||348|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron||n.*2534G>A|||||348|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay||n.*184G>A|||||368|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding||c.*1558G>A|||||372|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron||n.*2378G>A|||||416|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding||c.*1018G>A|||||471|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding||c.*1088G>A|||||834|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding||c.*1227G>A|||||960|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron||n.*1760G>A|||||1301|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript||n.*1056G>A|||||2410|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript||n.*692G>A|||||2435|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding||c.*1015G>A|||||2911|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding||c.*722G>A|||||3719|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript|4/5|n.459-69C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|30/31|n.4932C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|20/21|n.*840C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron|5/6|n.1167C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron|3/3|n.2615C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron|4/5|n.1135C>T|||||| 22 32014131 . CA C . . ANN=|frameshift_variant|HIGH|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|32/33|c.3544delA|p.Arg1182fs|3649/4002|3544/3729|1182/1242||,|frameshift_variant|HIGH|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|28/29|c.3081delA|p.Ala1027fs|3474/3788|3081/3096|1027/1031||,|frameshift_variant|HIGH|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|30/31|c.3298delA|p.Arg1100fs|3691/4005|3298/3483|1100/1160||,|frameshift_variant|HIGH|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|30/31|c.3379delA|p.Arg1127fs|3772/4086|3379/3564|1127/1187||,|frameshift_variant|HIGH|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|31/32|c.3451delA|p.Arg1151fs|3844/4162|3451/3636|1151/1211||,|frameshift_variant|HIGH|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|28/29|c.3085delA|p.Arg1029fs|3366/3579|3085/3270|1029/1089||,|frameshift_variant|HIGH|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|30/31|c.3298delA|p.Arg1100fs|3424/3739|3298/3483|1100/1160||,|3_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|20/21|n.*843delA|||||4657|,|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding||c.*1454delT|||||957|,|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay||n.*1200delA|||||4693|,|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding||c.*1817delA|||||3286|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000495107|retained_intron||n.*735delA|||||4431|,|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding||c.*1548delT|||||345|,|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron||n.*2534delT|||||345|,|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay||n.*184delT|||||365|,|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding||c.*1558delT|||||369|,|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron||n.*2378delT|||||413|,|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding||c.*1018delT|||||468|,|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding||c.*1088delT|||||831|WARNING_TRANSCRIPT_NO_START_CODON,|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding||c.*1227delT|||||957|,|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron||n.*1760delT|||||1298|,|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript||n.*1056delT|||||2407|,|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript||n.*692delT|||||2432|,|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding||c.*1015delT|||||2908|WARNING_TRANSCRIPT_NO_STOP_CODON,|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding||c.*722delT|||||3716|WARNING_TRANSCRIPT_NO_STOP_CODON,|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript|4/5|n.459-66delA||||||,|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|30/31|n.4935delA||||||,|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|20/21|n.*843delA||||||,|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron|5/6|n.1170delA||||||,|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron|3/3|n.2618delA||||||,|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron|4/5|n.1138delA||||||;LOF=(SFI1|ENSG00000198089|31|0.16) 22 32014160 . C T . . ANN=T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|32/33|c.3572C>T|p.Pro1191Leu|3677/4002|3572/3729|1191/1242||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|30/31|c.3326C>T|p.Pro1109Leu|3719/4005|3326/3483|1109/1160||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|30/31|c.3407C>T|p.Pro1136Leu|3800/4086|3407/3564|1136/1187||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|31/32|c.3479C>T|p.Pro1160Leu|3872/4162|3479/3636|1160/1211||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|28/29|c.3113C>T|p.Pro1038Leu|3394/3579|3113/3270|1038/1089||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|30/31|c.3326C>T|p.Pro1109Leu|3452/3739|3326/3483|1109/1160||,T|3_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|28/29|c.*13C>T|||||13|,T|3_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|20/21|n.*871C>T|||||4685|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding||c.*1454G>A|||||929|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay||n.*1200C>T|||||4721|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding||c.*1817C>T|||||3314|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000495107|retained_intron||n.*735C>T|||||4459|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding||c.*1548G>A|||||317|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron||n.*2534G>A|||||317|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay||n.*184G>A|||||337|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding||c.*1558G>A|||||341|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron||n.*2378G>A|||||385|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding||c.*1018G>A|||||440|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding||c.*1088G>A|||||803|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding||c.*1227G>A|||||929|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron||n.*1760G>A|||||1270|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript||n.*1056G>A|||||2379|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript||n.*692G>A|||||2404|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding||c.*1015G>A|||||2880|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding||c.*722G>A|||||3688|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript|4/5|n.459-38C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|30/31|n.4963C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|20/21|n.*871C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron|5/6|n.1198C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron|3/3|n.2646C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron|4/5|n.1166C>T|||||| 22 32014161 . G A . . ANN=A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|32/33|c.3573G>A|p.Pro1191Pro|3678/4002|3573/3729|1191/1242||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|30/31|c.3327G>A|p.Pro1109Pro|3720/4005|3327/3483|1109/1160||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|30/31|c.3408G>A|p.Pro1136Pro|3801/4086|3408/3564|1136/1187||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|31/32|c.3480G>A|p.Pro1160Pro|3873/4162|3480/3636|1160/1211||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|28/29|c.3114G>A|p.Pro1038Pro|3395/3579|3114/3270|1038/1089||,A|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|30/31|c.3327G>A|p.Pro1109Pro|3453/3739|3327/3483|1109/1160||,A|3_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|28/29|c.*14G>A|||||14|,A|3_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|20/21|n.*872G>A|||||4686|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding||c.*1454C>T|||||928|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay||n.*1200G>A|||||4722|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding||c.*1817G>A|||||3315|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000495107|retained_intron||n.*735G>A|||||4460|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding||c.*1548C>T|||||316|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron||n.*2534C>T|||||316|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay||n.*184C>T|||||336|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding||c.*1558C>T|||||340|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron||n.*2378C>T|||||384|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding||c.*1018C>T|||||439|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding||c.*1088C>T|||||802|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding||c.*1227C>T|||||928|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron||n.*1760C>T|||||1269|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript||n.*1056C>T|||||2378|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript||n.*692C>T|||||2403|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding||c.*1015C>T|||||2879|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding||c.*722C>T|||||3687|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript|4/5|n.459-37G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|30/31|n.4964G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|20/21|n.*872G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron|5/6|n.1199G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron|3/3|n.2647G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron|4/5|n.1167G>A|||||| 22 32014245 . G A . . ANN=A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding||c.*1454C>T|||||844|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay||n.*1200G>A|||||4806|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding||c.*1817G>A|||||3399|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000495107|retained_intron||n.*735G>A|||||4544|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding||c.*1548C>T|||||232|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron||n.*2534C>T|||||232|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay||n.*184C>T|||||252|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding||c.*1558C>T|||||256|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron||n.*2378C>T|||||300|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding||c.*1018C>T|||||355|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding||c.*1088C>T|||||718|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding||c.*1227C>T|||||844|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron||n.*1760C>T|||||1185|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript||n.*1056C>T|||||2294|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript||n.*692C>T|||||2319|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding||c.*1015C>T|||||2795|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding||c.*722C>T|||||3603|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|32/32|c.3624+33G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|28/28|c.*65+33G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|30/30|c.3378+33G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|30/30|c.3459+33G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|31/31|c.3531+33G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|28/28|c.3165+33G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|30/30|c.3378+33G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|30/30|n.5015+33G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|20/20|n.*923+33G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript|5/5|n.473+33G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron|5/5|n.1250+33G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron|4/4|n.1218+33G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron|3/3|n.2731G>A|||||| 22 32014250 . G A . . ANN=A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding||c.*1454C>T|||||839|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay||n.*1200G>A|||||4811|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding||c.*1817G>A|||||3404|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000495107|retained_intron||n.*735G>A|||||4549|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding||c.*1548C>T|||||227|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron||n.*2534C>T|||||227|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay||n.*184C>T|||||247|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding||c.*1558C>T|||||251|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron||n.*2378C>T|||||295|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding||c.*1018C>T|||||350|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding||c.*1088C>T|||||713|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding||c.*1227C>T|||||839|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron||n.*1760C>T|||||1180|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript||n.*1056C>T|||||2289|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript||n.*692C>T|||||2314|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding||c.*1015C>T|||||2790|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding||c.*722C>T|||||3598|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|32/32|c.3624+38G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|28/28|c.*65+38G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|30/30|c.3378+38G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|30/30|c.3459+38G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|31/31|c.3531+38G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|28/28|c.3165+38G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|30/30|c.3378+38G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|30/30|n.5015+38G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|20/20|n.*923+38G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript|5/5|n.473+38G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron|5/5|n.1250+38G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron|4/4|n.1218+38G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron|3/3|n.2736G>A|||||| 22 32014255 . G A . . ANN=A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding||c.*1454C>T|||||834|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay||n.*1200G>A|||||4816|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding||c.*1817G>A|||||3409|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000495107|retained_intron||n.*735G>A|||||4554|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding||c.*1548C>T|||||222|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron||n.*2534C>T|||||222|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay||n.*184C>T|||||242|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding||c.*1558C>T|||||246|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron||n.*2378C>T|||||290|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding||c.*1018C>T|||||345|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding||c.*1088C>T|||||708|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding||c.*1227C>T|||||834|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron||n.*1760C>T|||||1175|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript||n.*1056C>T|||||2284|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript||n.*692C>T|||||2309|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding||c.*1015C>T|||||2785|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding||c.*722C>T|||||3593|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|32/32|c.3624+43G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|28/28|c.*65+43G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|30/30|c.3378+43G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|30/30|c.3459+43G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|31/31|c.3531+43G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|28/28|c.3165+43G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|30/30|c.3378+43G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|30/30|n.5015+43G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|20/20|n.*923+43G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript|5/5|n.473+43G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron|5/5|n.1250+43G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron|4/4|n.1218+43G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron|3/3|n.2741G>A|||||| 22 32014296 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|32/32|c.3625-4C>T||||||,T|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|28/28|c.*66-4C>T||||||,T|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|30/30|c.3379-4C>T||||||,T|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|30/30|c.3460-4C>T||||||,T|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|31/31|c.3532-4C>T||||||,T|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|28/28|c.3166-4C>T||||||,T|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|30/30|c.3379-4C>T||||||,T|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|30/30|n.5016-4C>T||||||,T|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|20/20|n.*924-4C>T||||||,T|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript|5/5|n.474-4C>T||||||,T|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron|5/5|n.1251-4C>T||||||,T|splice_region_variant&intron_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron|4/4|n.1219-4C>T||||||,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding||c.*1454G>A|||||793|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay||n.*1200C>T|||||4857|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding||c.*1817C>T|||||3450|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000495107|retained_intron||n.*735C>T|||||4595|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding||c.*1548G>A|||||181|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron||n.*2534G>A|||||181|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay||n.*184G>A|||||201|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding||c.*1558G>A|||||205|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron||n.*2378G>A|||||249|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding||c.*1018G>A|||||304|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding||c.*1088G>A|||||667|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding||c.*1227G>A|||||793|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron||n.*1760G>A|||||1134|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript||n.*1056G>A|||||2243|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript||n.*692G>A|||||2268|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding||c.*1015G>A|||||2744|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding||c.*722G>A|||||3552|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron|3/3|n.2782C>T|||||| 22 32014359 . C T . . ANN=T|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|33/33|c.3684C>T|p.Gly1228Gly|3789/4002|3684/3729|1228/1242||,T|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|31/31|c.3438C>T|p.Gly1146Gly|3831/4005|3438/3483|1146/1160||,T|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|31/31|c.3519C>T|p.Gly1173Gly|3912/4086|3519/3564|1173/1187||,T|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|32/32|c.3591C>T|p.Gly1197Gly|3984/4162|3591/3636|1197/1211||,T|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|29/29|c.3225C>T|p.Gly1075Gly|3506/3579|3225/3270|1075/1089||,T|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|31/31|c.3438C>T|p.Gly1146Gly|3564/3739|3438/3483|1146/1160||,T|3_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|29/29|c.*125C>T|||||212|,T|3_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|21/21|n.*983C>T|||||4884|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding||c.*1454G>A|||||730|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay||n.*1200C>T|||||4920|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding||c.*1817C>T|||||3513|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000495107|retained_intron||n.*735C>T|||||4658|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding||c.*1548G>A|||||118|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron||n.*2534G>A|||||118|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay||n.*184G>A|||||138|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding||c.*1558G>A|||||142|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron||n.*2378G>A|||||186|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding||c.*1018G>A|||||241|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding||c.*1088G>A|||||604|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding||c.*1227G>A|||||730|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron||n.*1760G>A|||||1071|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript||n.*1056G>A|||||2180|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript||n.*692G>A|||||2205|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding||c.*1015G>A|||||2681|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding||c.*722G>A|||||3489|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|31/31|n.5075C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|21/21|n.*983C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript|6/6|n.533C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron|6/6|n.1310C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron|3/3|n.2845C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron|5/5|n.1278C>T|||||| 22 32014365 . C T . . ANN=T|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|33/33|c.3690C>T|p.Cys1230Cys|3795/4002|3690/3729|1230/1242||,T|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|31/31|c.3444C>T|p.Cys1148Cys|3837/4005|3444/3483|1148/1160||,T|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|31/31|c.3525C>T|p.Cys1175Cys|3918/4086|3525/3564|1175/1187||,T|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|32/32|c.3597C>T|p.Cys1199Cys|3990/4162|3597/3636|1199/1211||,T|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|29/29|c.3231C>T|p.Cys1077Cys|3512/3579|3231/3270|1077/1089||,T|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|31/31|c.3444C>T|p.Cys1148Cys|3570/3739|3444/3483|1148/1160||,T|3_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|29/29|c.*131C>T|||||218|,T|3_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|21/21|n.*989C>T|||||4890|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding||c.*1454G>A|||||724|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay||n.*1200C>T|||||4926|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding||c.*1817C>T|||||3519|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000495107|retained_intron||n.*735C>T|||||4664|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding||c.*1548G>A|||||112|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron||n.*2534G>A|||||112|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay||n.*184G>A|||||132|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding||c.*1558G>A|||||136|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron||n.*2378G>A|||||180|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding||c.*1018G>A|||||235|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding||c.*1088G>A|||||598|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding||c.*1227G>A|||||724|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron||n.*1760G>A|||||1065|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript||n.*1056G>A|||||2174|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript||n.*692G>A|||||2199|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding||c.*1015G>A|||||2675|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding||c.*722G>A|||||3483|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|31/31|n.5081C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|21/21|n.*989C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript|6/6|n.539C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron|6/6|n.1316C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron|3/3|n.2851C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron|5/5|n.1284C>T|||||| 22 32014366 . G A . . ANN=A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|33/33|c.3691G>A|p.Val1231Ile|3796/4002|3691/3729|1231/1242||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|31/31|c.3445G>A|p.Val1149Ile|3838/4005|3445/3483|1149/1160||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|31/31|c.3526G>A|p.Val1176Ile|3919/4086|3526/3564|1176/1187||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|32/32|c.3598G>A|p.Val1200Ile|3991/4162|3598/3636|1200/1211||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|29/29|c.3232G>A|p.Val1078Ile|3513/3579|3232/3270|1078/1089||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|31/31|c.3445G>A|p.Val1149Ile|3571/3739|3445/3483|1149/1160||,A|3_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|29/29|c.*132G>A|||||219|,A|3_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|21/21|n.*990G>A|||||4891|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding||c.*1454C>T|||||723|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay||n.*1200G>A|||||4927|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding||c.*1817G>A|||||3520|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000495107|retained_intron||n.*735G>A|||||4665|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding||c.*1548C>T|||||111|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron||n.*2534C>T|||||111|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay||n.*184C>T|||||131|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding||c.*1558C>T|||||135|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron||n.*2378C>T|||||179|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding||c.*1018C>T|||||234|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding||c.*1088C>T|||||597|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding||c.*1227C>T|||||723|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron||n.*1760C>T|||||1064|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript||n.*1056C>T|||||2173|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript||n.*692C>T|||||2198|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding||c.*1015C>T|||||2674|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding||c.*722C>T|||||3482|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|31/31|n.5082G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|21/21|n.*990G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript|6/6|n.540G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron|6/6|n.1317G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron|3/3|n.2852G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron|5/5|n.1285G>A|||||| 22 32014410 . T G . . ANN=G|3_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|33/33|c.*6T>G|||||6|,G|3_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|29/29|c.*176T>G|||||263|,G|3_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|31/31|c.*6T>G|||||6|,G|3_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|31/31|c.*6T>G|||||6|,G|3_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|32/32|c.*6T>G|||||6|,G|3_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|29/29|c.*6T>G|||||6|,G|3_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|31/31|c.*6T>G|||||6|,G|3_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|21/21|n.*1034T>G|||||4935|,G|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding||c.*1454A>C|||||679|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay||n.*1200T>G|||||4971|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding||c.*1817T>G|||||3564|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000495107|retained_intron||n.*735T>G|||||4709|,G|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding||c.*1548A>C|||||67|,G|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron||n.*2534A>C|||||67|,G|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay||n.*184A>C|||||87|,G|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding||c.*1558A>C|||||91|,G|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron||n.*2378A>C|||||135|,G|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding||c.*1018A>C|||||190|,G|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding||c.*1088A>C|||||553|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding||c.*1227A>C|||||679|,G|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron||n.*1760A>C|||||1020|,G|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript||n.*1056A>C|||||2129|,G|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript||n.*692A>C|||||2154|,G|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding||c.*1015A>C|||||2630|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding||c.*722A>C|||||3438|WARNING_TRANSCRIPT_NO_STOP_CODON,G|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|31/31|n.5126T>G||||||,G|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|21/21|n.*1034T>G||||||,G|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript|6/6|n.584T>G||||||,G|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron|6/6|n.1361T>G||||||,G|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron|3/3|n.2896T>G||||||,G|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron|5/5|n.1329T>G|||||| 22 32014411 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|33/33|c.*7C>T|||||7|,T|3_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|29/29|c.*177C>T|||||264|,T|3_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|31/31|c.*7C>T|||||7|,T|3_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|31/31|c.*7C>T|||||7|,T|3_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|32/32|c.*7C>T|||||7|,T|3_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|29/29|c.*7C>T|||||7|,T|3_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|31/31|c.*7C>T|||||7|,T|3_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|21/21|n.*1035C>T|||||4936|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding||c.*1454G>A|||||678|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay||n.*1200C>T|||||4972|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding||c.*1817C>T|||||3565|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000495107|retained_intron||n.*735C>T|||||4710|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding||c.*1548G>A|||||66|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron||n.*2534G>A|||||66|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay||n.*184G>A|||||86|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding||c.*1558G>A|||||90|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron||n.*2378G>A|||||134|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding||c.*1018G>A|||||189|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding||c.*1088G>A|||||552|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding||c.*1227G>A|||||678|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron||n.*1760G>A|||||1019|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript||n.*1056G>A|||||2128|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript||n.*692G>A|||||2153|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding||c.*1015G>A|||||2629|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding||c.*722G>A|||||3437|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|31/31|n.5127C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|21/21|n.*1035C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript|6/6|n.585C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron|6/6|n.1362C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron|3/3|n.2897C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron|5/5|n.1330C>T|||||| 22 32015616 . T C . . ANN=C|synonymous_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding|8/8|c.1212A>G|p.Glu404Glu|1436/1963|1212/1230|404/409||,C|synonymous_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding|8/8|c.1110A>G|p.Glu370Glu|1530/2669|1110/1128|370/375||,C|synonymous_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding|9/9|c.1110A>G|p.Glu370Glu|1540/2655|1110/1128|370/375||,C|synonymous_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding|8/8|c.1068A>G|p.Glu356Glu|1070/1723|1068/1086|356/361||WARNING_TRANSCRIPT_NO_START_CODON,C|synonymous_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding|8/8|c.1209A>G|p.Glu403Glu|1209/1736|1209/1227|403/408||,C|3_prime_UTR_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|7/7|n.*961A>G|||||28541|,C|3_prime_UTR_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding|7/7|c.*160A>G|||||160|,C|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding||c.*3834T>C|||||1044|,C|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding||c.*3489T>C|||||1083|,C|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding||c.*3876T>C|||||1083|,C|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding||c.*3957T>C|||||1083|,C|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding||c.*4029T>C|||||1079|,C|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding||c.*3551T>C|||||1184|,C|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding||c.*3609T>C|||||1082|,C|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron||n.*5250T>C|||||1082|,C|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay||n.*1468T>C|||||1083|,C|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding||c.*1817T>C|||||4770|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript||n.*708T>C|||||1082|,C|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron||n.*1485T>C|||||1082|,C|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron||n.*3019T>C|||||1083|,C|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron||n.*1453T>C|||||1082|,C|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript||n.*1056A>G|||||923|,C|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript||n.*692A>G|||||948|,C|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding||c.*1015A>G|||||1424|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding||c.*722A>G|||||2232|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000431201|protein_coding||c.*460A>G|||||4054|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000429683|protein_coding||c.*609A>G|||||4054|WARNING_TRANSCRIPT_NO_STOP_CODON,C|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron|7/7|n.1395A>G||||||,C|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|7/7|n.*961A>G||||||,C|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron|6/6|n.1307A>G||||||,C|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron|6/6|n.1574A>G|||||| 22 32015742 . G A . . ANN=A|synonymous_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding|8/8|c.1086C>T|p.Gly362Gly|1310/1963|1086/1230|362/409||,A|synonymous_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding|8/8|c.984C>T|p.Gly328Gly|1404/2669|984/1128|328/375||,A|synonymous_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding|9/9|c.984C>T|p.Gly328Gly|1414/2655|984/1128|328/375||,A|synonymous_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding|8/8|c.942C>T|p.Gly314Gly|944/1723|942/1086|314/361||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding|8/8|c.1083C>T|p.Gly361Gly|1083/1736|1083/1227|361/408||,A|3_prime_UTR_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|7/7|n.*835C>T|||||28415|,A|3_prime_UTR_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding|7/7|c.*34C>T|||||34|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding||c.*3834G>A|||||1170|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding||c.*3489G>A|||||1209|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding||c.*3876G>A|||||1209|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding||c.*3957G>A|||||1209|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding||c.*4029G>A|||||1205|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding||c.*3551G>A|||||1310|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding||c.*3609G>A|||||1208|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron||n.*5250G>A|||||1208|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay||n.*1468G>A|||||1209|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding||c.*1817G>A|||||4896|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript||n.*708G>A|||||1208|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron||n.*1485G>A|||||1208|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron||n.*3019G>A|||||1209|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron||n.*1453G>A|||||1208|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript||n.*1056C>T|||||797|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript||n.*692C>T|||||822|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding||c.*1015C>T|||||1298|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding||c.*722C>T|||||2106|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000431201|protein_coding||c.*460C>T|||||3928|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000429683|protein_coding||c.*609C>T|||||3928|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron|7/7|n.1269C>T||||||,A|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|7/7|n.*835C>T||||||,A|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron|6/6|n.1181C>T||||||,A|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron|6/6|n.1448C>T|||||| 22 32015765 . C T . . ANN=T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding|8/8|c.1063G>A|p.Val355Met|1287/1963|1063/1230|355/409||,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding|8/8|c.961G>A|p.Val321Met|1381/2669|961/1128|321/375||,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding|9/9|c.961G>A|p.Val321Met|1391/2655|961/1128|321/375||,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding|8/8|c.919G>A|p.Val307Met|921/1723|919/1086|307/361||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding|8/8|c.1060G>A|p.Val354Met|1060/1736|1060/1227|354/408||,T|3_prime_UTR_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|7/7|n.*812G>A|||||28392|,T|3_prime_UTR_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding|7/7|c.*11G>A|||||11|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding||c.*3834C>T|||||1193|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding||c.*3489C>T|||||1232|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding||c.*3876C>T|||||1232|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding||c.*3957C>T|||||1232|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding||c.*4029C>T|||||1228|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding||c.*3551C>T|||||1333|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding||c.*3609C>T|||||1231|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron||n.*5250C>T|||||1231|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay||n.*1468C>T|||||1232|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding||c.*1817C>T|||||4919|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript||n.*708C>T|||||1231|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron||n.*1485C>T|||||1231|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron||n.*3019C>T|||||1232|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron||n.*1453C>T|||||1231|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript||n.*1056G>A|||||774|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript||n.*692G>A|||||799|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding||c.*1015G>A|||||1275|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding||c.*722G>A|||||2083|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000431201|protein_coding||c.*460G>A|||||3905|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000429683|protein_coding||c.*609G>A|||||3905|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron|7/7|n.1246G>A||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|7/7|n.*812G>A||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron|6/6|n.1158G>A||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron|6/6|n.1425G>A|||||| 22 32015766 . G A . . ANN=A|synonymous_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding|8/8|c.1062C>T|p.Phe354Phe|1286/1963|1062/1230|354/409||,A|synonymous_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding|8/8|c.960C>T|p.Phe320Phe|1380/2669|960/1128|320/375||,A|synonymous_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding|9/9|c.960C>T|p.Phe320Phe|1390/2655|960/1128|320/375||,A|synonymous_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding|8/8|c.918C>T|p.Phe306Phe|920/1723|918/1086|306/361||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding|8/8|c.1059C>T|p.Phe353Phe|1059/1736|1059/1227|353/408||,A|3_prime_UTR_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|7/7|n.*811C>T|||||28391|,A|3_prime_UTR_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding|7/7|c.*10C>T|||||10|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding||c.*3834G>A|||||1194|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding||c.*3489G>A|||||1233|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding||c.*3876G>A|||||1233|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding||c.*3957G>A|||||1233|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding||c.*4029G>A|||||1229|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding||c.*3551G>A|||||1334|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding||c.*3609G>A|||||1232|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron||n.*5250G>A|||||1232|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay||n.*1468G>A|||||1233|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding||c.*1817G>A|||||4920|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript||n.*708G>A|||||1232|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron||n.*1485G>A|||||1232|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron||n.*3019G>A|||||1233|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron||n.*1453G>A|||||1232|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript||n.*1056C>T|||||773|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript||n.*692C>T|||||798|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding||c.*1015C>T|||||1274|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding||c.*722C>T|||||2082|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000431201|protein_coding||c.*460C>T|||||3904|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000429683|protein_coding||c.*609C>T|||||3904|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron|7/7|n.1245C>T||||||,A|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|7/7|n.*811C>T||||||,A|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron|6/6|n.1157C>T||||||,A|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron|6/6|n.1424C>T|||||| 22 32015839 . G T . . ANN=T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding||c.*3834G>T|||||1267|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding||c.*3489G>T|||||1306|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding||c.*3876G>T|||||1306|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding||c.*3957G>T|||||1306|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding||c.*4029G>T|||||1302|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding||c.*3551G>T|||||1407|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding||c.*3609G>T|||||1305|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron||n.*5250G>T|||||1305|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay||n.*1468G>T|||||1306|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding||c.*1817G>T|||||4993|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript||n.*708G>T|||||1305|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron||n.*1485G>T|||||1305|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron||n.*3019G>T|||||1306|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron||n.*1453G>T|||||1305|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript||n.*1056C>A|||||700|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript||n.*692C>A|||||725|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding||c.*1015C>A|||||1201|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding||c.*722C>A|||||2009|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000431201|protein_coding||c.*460C>A|||||3831|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000429683|protein_coding||c.*609C>A|||||3831|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding|7/7|c.1006-17C>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding|7/7|c.904-17C>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron|6/6|n.1189-17C>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|6/6|n.*755-17C>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding|8/8|c.904-17C>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron|5/5|n.1101-17C>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding|6/6|c.743-17C>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding|7/7|c.862-17C>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding|7/7|c.1003-17C>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron|5/5|n.1368-17C>A|||||| 22 32015870 . C T . . ANN=T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding||c.*3834C>T|||||1298|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding||c.*3489C>T|||||1337|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding||c.*3876C>T|||||1337|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding||c.*3957C>T|||||1337|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding||c.*4029C>T|||||1333|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding||c.*3551C>T|||||1438|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding||c.*3609C>T|||||1336|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron||n.*5250C>T|||||1336|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay||n.*1468C>T|||||1337|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript||n.*708C>T|||||1336|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron||n.*1485C>T|||||1336|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron||n.*3019C>T|||||1337|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron||n.*1453C>T|||||1336|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript||n.*1056G>A|||||669|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript||n.*692G>A|||||694|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding||c.*1015G>A|||||1170|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding||c.*722G>A|||||1978|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000431201|protein_coding||c.*460G>A|||||3800|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000429683|protein_coding||c.*609G>A|||||3800|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding|7/7|c.1006-48G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding|7/7|c.904-48G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron|6/6|n.1189-48G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|6/6|n.*755-48G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding|8/8|c.904-48G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron|5/5|n.1101-48G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding|6/6|c.743-48G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding|7/7|c.862-48G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding|7/7|c.1003-48G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron|5/5|n.1368-48G>A|||||| 22 32016541 . G A,T . . ANN=A|missense_variant&splice_region_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding|7/8|c.1003C>T|p.Arg335Trp|1227/1963|1003/1230|335/409||,A|missense_variant&splice_region_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding|7/8|c.901C>T|p.Arg301Trp|1321/2669|901/1128|301/375||,A|missense_variant&splice_region_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding|8/9|c.901C>T|p.Arg301Trp|1331/2655|901/1128|301/375||,A|missense_variant&splice_region_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding|7/8|c.859C>T|p.Arg287Trp|861/1723|859/1086|287/361||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant&splice_region_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding|7/8|c.1000C>T|p.Arg334Trp|1000/1736|1000/1227|334/408||,T|splice_region_variant&synonymous_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding|7/8|c.1003C>A|p.Arg335Arg|1227/1963|1003/1230|335/409||,T|splice_region_variant&synonymous_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding|7/8|c.901C>A|p.Arg301Arg|1321/2669|901/1128|301/375||,A|splice_region_variant&non_coding_exon_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron|6/7|n.1186C>T||||||,T|splice_region_variant&non_coding_exon_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron|6/7|n.1186C>A||||||,A|splice_region_variant&non_coding_exon_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|6/7|n.*752C>T||||||,T|splice_region_variant&non_coding_exon_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|6/7|n.*752C>A||||||,T|splice_region_variant&synonymous_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding|8/9|c.901C>A|p.Arg301Arg|1331/2655|901/1128|301/375||,A|splice_region_variant&non_coding_exon_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron|5/6|n.1098C>T||||||,T|splice_region_variant&non_coding_exon_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron|5/6|n.1098C>A||||||,T|splice_region_variant&synonymous_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding|7/8|c.859C>A|p.Arg287Arg|861/1723|859/1086|287/361||WARNING_TRANSCRIPT_NO_START_CODON,T|splice_region_variant&synonymous_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding|7/8|c.1000C>A|p.Arg334Arg|1000/1736|1000/1227|334/408||,A|splice_region_variant&non_coding_exon_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron|5/6|n.1365C>T||||||,T|splice_region_variant&non_coding_exon_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron|5/6|n.1365C>A||||||,A|splice_region_variant&non_coding_exon_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript|6/6|n.1054C>T||||||,T|splice_region_variant&non_coding_exon_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript|6/6|n.1054C>A||||||,A|3_prime_UTR_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|6/7|n.*752C>T|||||27616|,T|3_prime_UTR_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|6/7|n.*752C>A|||||27616|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding||c.*3834G>A|||||1969|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding||c.*3834G>T|||||1969|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding||c.*3489G>A|||||2008|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding||c.*3489G>T|||||2008|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding||c.*3876G>A|||||2008|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding||c.*3876G>T|||||2008|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding||c.*3957G>A|||||2008|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding||c.*3957G>T|||||2008|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding||c.*4029G>A|||||2004|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding||c.*4029G>T|||||2004|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding||c.*3551G>A|||||2109|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding||c.*3551G>T|||||2109|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding||c.*3609G>A|||||2007|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding||c.*3609G>T|||||2007|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron||n.*5250G>A|||||2007|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron||n.*5250G>T|||||2007|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay||n.*1468G>A|||||2008|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay||n.*1468G>T|||||2008|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript||n.*708G>A|||||2007|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript||n.*708G>T|||||2007|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron||n.*1485G>A|||||2007|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron||n.*1485G>T|||||2007|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron||n.*3019G>A|||||2008|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron||n.*3019G>T|||||2008|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron||n.*1453G>A|||||2007|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron||n.*1453G>T|||||2007|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript||n.*692C>T|||||23|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript||n.*692C>A|||||23|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding||c.*1015C>T|||||499|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding||c.*1015C>A|||||499|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding||c.*722C>T|||||1307|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding||c.*722C>A|||||1307|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000431201|protein_coding||c.*460C>T|||||3129|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000431201|protein_coding||c.*460C>A|||||3129|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000429683|protein_coding||c.*609C>T|||||3129|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000429683|protein_coding||c.*609C>A|||||3129|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding|6/6|c.742+441C>T||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding|6/6|c.742+441C>A|||||| 22 32016621 . G A . . ANN=A|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding|7/8|c.923C>T|p.Thr308Met|1147/1963|923/1230|308/409||,A|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding|7/8|c.821C>T|p.Thr274Met|1241/2669|821/1128|274/375||,A|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding|8/9|c.821C>T|p.Thr274Met|1251/2655|821/1128|274/375||,A|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding|7/8|c.920C>T|p.Thr307Met|920/1736|920/1227|307/408||,A|3_prime_UTR_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|6/7|n.*672C>T|||||27536|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding||c.*3834G>A|||||2049|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding||c.*3489G>A|||||2088|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding||c.*3876G>A|||||2088|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding||c.*3957G>A|||||2088|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding||c.*4029G>A|||||2084|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding||c.*3551G>A|||||2189|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding||c.*3609G>A|||||2087|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron||n.*5250G>A|||||2087|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay||n.*1468G>A|||||2088|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript||n.*708G>A|||||2087|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron||n.*1485G>A|||||2087|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron||n.*3019G>A|||||2088|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron||n.*1453G>A|||||2087|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding||c.*1015C>T|||||419|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding||c.*722C>T|||||1227|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000431201|protein_coding||c.*460C>T|||||3049|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000429683|protein_coding||c.*609C>T|||||3049|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding|6/6|c.742+361C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding|6/7|c.815-36C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron|6/7|n.1106C>T||||||,A|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|6/7|n.*672C>T||||||,A|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron|5/6|n.1018C>T||||||,A|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron|5/6|n.1285C>T||||||,A|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript|6/6|n.974C>T||||||,A|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript|5/5|n.635C>T|||||| 22 32016719 . C T . . ANN=T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding||c.*3834C>T|||||2147|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding||c.*3489C>T|||||2186|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding||c.*3876C>T|||||2186|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding||c.*3957C>T|||||2186|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding||c.*4029C>T|||||2182|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding||c.*3551C>T|||||2287|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding||c.*3609C>T|||||2185|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron||n.*5250C>T|||||2185|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay||n.*1468C>T|||||2186|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript||n.*708C>T|||||2185|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron||n.*1485C>T|||||2185|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron||n.*3019C>T|||||2186|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron||n.*1453C>T|||||2185|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding||c.*1015G>A|||||321|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding||c.*722G>A|||||1129|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000431201|protein_coding||c.*460G>A|||||2951|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000429683|protein_coding||c.*609G>A|||||2951|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding|6/7|c.845-20G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding|6/7|c.743-20G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron|5/6|n.1028-20G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|5/6|n.*594-20G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding|7/8|c.743-20G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron|4/5|n.940-20G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding|6/6|c.742+263G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding|6/7|c.815-134G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding|6/7|c.842-20G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron|4/5|n.1207-20G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript|5/5|n.896-20G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript|4/4|n.557-20G>A|||||| 22 32016726 . C T . . ANN=T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding||c.*3834C>T|||||2154|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding||c.*3489C>T|||||2193|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding||c.*3876C>T|||||2193|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding||c.*3957C>T|||||2193|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding||c.*4029C>T|||||2189|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding||c.*3551C>T|||||2294|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding||c.*3609C>T|||||2192|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron||n.*5250C>T|||||2192|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay||n.*1468C>T|||||2193|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript||n.*708C>T|||||2192|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron||n.*1485C>T|||||2192|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron||n.*3019C>T|||||2193|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron||n.*1453C>T|||||2192|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding||c.*1015G>A|||||314|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding||c.*722G>A|||||1122|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000431201|protein_coding||c.*460G>A|||||2944|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000429683|protein_coding||c.*609G>A|||||2944|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding|6/7|c.845-27G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding|6/7|c.743-27G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron|5/6|n.1028-27G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|5/6|n.*594-27G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding|7/8|c.743-27G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron|4/5|n.940-27G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding|6/6|c.742+256G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding|6/7|c.815-141G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding|6/7|c.842-27G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron|4/5|n.1207-27G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript|5/5|n.896-27G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript|4/4|n.557-27G>A|||||| 22 32016729 . C T . . ANN=T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding||c.*3834C>T|||||2157|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding||c.*3489C>T|||||2196|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding||c.*3876C>T|||||2196|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding||c.*3957C>T|||||2196|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding||c.*4029C>T|||||2192|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding||c.*3551C>T|||||2297|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding||c.*3609C>T|||||2195|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron||n.*5250C>T|||||2195|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay||n.*1468C>T|||||2196|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript||n.*708C>T|||||2195|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron||n.*1485C>T|||||2195|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron||n.*3019C>T|||||2196|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron||n.*1453C>T|||||2195|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding||c.*1015G>A|||||311|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding||c.*722G>A|||||1119|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000431201|protein_coding||c.*460G>A|||||2941|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000429683|protein_coding||c.*609G>A|||||2941|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding|6/7|c.845-30G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding|6/7|c.743-30G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron|5/6|n.1028-30G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|5/6|n.*594-30G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding|7/8|c.743-30G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron|4/5|n.940-30G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding|6/6|c.742+253G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding|6/7|c.815-144G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding|6/7|c.842-30G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron|4/5|n.1207-30G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript|5/5|n.896-30G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript|4/4|n.557-30G>A|||||| 22 32016730 . G A . . ANN=A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding||c.*3834G>A|||||2158|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding||c.*3489G>A|||||2197|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding||c.*3876G>A|||||2197|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding||c.*3957G>A|||||2197|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding||c.*4029G>A|||||2193|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding||c.*3551G>A|||||2298|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding||c.*3609G>A|||||2196|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron||n.*5250G>A|||||2196|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay||n.*1468G>A|||||2197|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript||n.*708G>A|||||2196|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron||n.*1485G>A|||||2196|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron||n.*3019G>A|||||2197|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron||n.*1453G>A|||||2196|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding||c.*1015C>T|||||310|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding||c.*722C>T|||||1118|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000431201|protein_coding||c.*460C>T|||||2940|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000429683|protein_coding||c.*609C>T|||||2940|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding|6/7|c.845-31C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding|6/7|c.743-31C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron|5/6|n.1028-31C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|5/6|n.*594-31C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding|7/8|c.743-31C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron|4/5|n.940-31C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding|6/6|c.742+252C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding|6/7|c.815-145C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding|6/7|c.842-31C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron|4/5|n.1207-31C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript|5/5|n.896-31C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript|4/4|n.557-31C>T|||||| 22 32016964 . C T . . ANN=T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding||c.*3834C>T|||||2392|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding||c.*3489C>T|||||2431|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding||c.*3876C>T|||||2431|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding||c.*3957C>T|||||2431|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding||c.*4029C>T|||||2427|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding||c.*3551C>T|||||2532|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding||c.*3609C>T|||||2430|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron||n.*5250C>T|||||2430|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay||n.*1468C>T|||||2431|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript||n.*708C>T|||||2430|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron||n.*1485C>T|||||2430|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron||n.*3019C>T|||||2431|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron||n.*1453C>T|||||2430|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding||c.*1015G>A|||||76|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding||c.*722G>A|||||884|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000431201|protein_coding||c.*460G>A|||||2706|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000429683|protein_coding||c.*609G>A|||||2706|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000486675|processed_transcript||n.*837G>A|||||4844|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000479851|processed_transcript||n.*655G>A|||||4900|,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding|6/7|c.844+18G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding|6/7|c.742+18G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron|5/6|n.1027+18G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|5/6|n.*593+18G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding|7/8|c.742+18G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron|4/5|n.939+18G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding|6/6|c.742+18G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding|6/7|c.814+18G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding|6/7|c.841+18G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron|4/5|n.1206+18G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript|5/5|n.895+18G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript|4/4|n.556+18G>A|||||| 22 32016974 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding|6/7|c.844+8C>T||||||,A|splice_region_variant&intron_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding|6/7|c.742+8C>T||||||,A|splice_region_variant&intron_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron|5/6|n.1027+8C>T||||||,A|splice_region_variant&intron_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|5/6|n.*593+8C>T||||||,A|splice_region_variant&intron_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding|7/8|c.742+8C>T||||||,A|splice_region_variant&intron_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron|4/5|n.939+8C>T||||||,A|splice_region_variant&intron_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding|6/6|c.742+8C>T||||||,A|splice_region_variant&intron_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding|6/7|c.814+8C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|splice_region_variant&intron_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding|6/7|c.841+8C>T||||||,A|splice_region_variant&intron_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron|4/5|n.1206+8C>T||||||,A|splice_region_variant&intron_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript|5/5|n.895+8C>T||||||,A|splice_region_variant&intron_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript|4/4|n.556+8C>T||||||,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding||c.*3834G>A|||||2402|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding||c.*3489G>A|||||2441|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding||c.*3876G>A|||||2441|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding||c.*3957G>A|||||2441|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding||c.*4029G>A|||||2437|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding||c.*3551G>A|||||2542|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding||c.*3609G>A|||||2440|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron||n.*5250G>A|||||2440|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay||n.*1468G>A|||||2441|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript||n.*708G>A|||||2440|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron||n.*1485G>A|||||2440|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron||n.*3019G>A|||||2441|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron||n.*1453G>A|||||2440|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding||c.*1015C>T|||||66|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding||c.*722C>T|||||874|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000431201|protein_coding||c.*460C>T|||||2696|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000429683|protein_coding||c.*609C>T|||||2696|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000486675|processed_transcript||n.*837C>T|||||4834|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000479851|processed_transcript||n.*655C>T|||||4890| 22 32016996 . C T . . ANN=T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding|6/8|c.830G>A|p.Arg277Gln|1054/1963|830/1230|277/409||,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding|6/8|c.728G>A|p.Arg243Gln|1148/2669|728/1128|243/375||,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding|7/9|c.728G>A|p.Arg243Gln|1158/2655|728/1128|243/375||,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding|6/7|c.728G>A|p.Arg243Gln|957/2194|728/789|243/262||,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding|6/8|c.800G>A|p.Arg267Gln|802/1723|800/1086|267/361||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding|6/8|c.827G>A|p.Arg276Gln|827/1736|827/1227|276/408||,T|3_prime_UTR_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|5/7|n.*579G>A|||||27161|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding||c.*3834C>T|||||2424|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding||c.*3489C>T|||||2463|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding||c.*3876C>T|||||2463|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding||c.*3957C>T|||||2463|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding||c.*4029C>T|||||2459|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding||c.*3551C>T|||||2564|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding||c.*3609C>T|||||2462|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron||n.*5250C>T|||||2462|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay||n.*1468C>T|||||2463|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript||n.*708C>T|||||2462|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron||n.*1485C>T|||||2462|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron||n.*3019C>T|||||2463|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron||n.*1453C>T|||||2462|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding||c.*1015G>A|||||44|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding||c.*722G>A|||||852|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000431201|protein_coding||c.*460G>A|||||2674|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000429683|protein_coding||c.*609G>A|||||2674|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000486675|processed_transcript||n.*837G>A|||||4812|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000479851|processed_transcript||n.*655G>A|||||4868|,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron|5/7|n.1013G>A||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|5/7|n.*579G>A||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron|4/6|n.925G>A||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron|4/6|n.1192G>A||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript|5/6|n.881G>A||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript|4/5|n.542G>A|||||| 22 32017272 . A G . . ANN=G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding||c.*3834A>G|||||2700|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding||c.*3489A>G|||||2739|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding||c.*3876A>G|||||2739|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding||c.*3957A>G|||||2739|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding||c.*4029A>G|||||2735|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding||c.*3551A>G|||||2840|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding||c.*3609A>G|||||2738|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron||n.*5250A>G|||||2738|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay||n.*1468A>G|||||2739|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript||n.*708A>G|||||2738|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron||n.*1485A>G|||||2738|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron||n.*3019A>G|||||2739|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron||n.*1453A>G|||||2738|,G|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding||c.*722T>C|||||576|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000431201|protein_coding||c.*460T>C|||||2398|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000429683|protein_coding||c.*609T>C|||||2398|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000486675|processed_transcript||n.*837T>C|||||4536|,G|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000479851|processed_transcript||n.*655T>C|||||4592|,G|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding|5/7|c.697+48T>C||||||,G|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding|5/7|c.595+48T>C||||||,G|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron|4/6|n.880+48T>C||||||,G|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|4/6|n.*446+48T>C||||||,G|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding|6/8|c.595+48T>C||||||,G|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding|5/6|c.595+48T>C||||||,G|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding|5/7|c.667+48T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding|5/7|c.694+48T>C||||||,G|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript|4/5|n.748+48T>C||||||,G|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript|3/4|n.409+48T>C||||||,G|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding|5/5|c.595+48T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron|4/6|n.649T>C||||||,G|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron|4/6|n.916T>C|||||| 22 32017296 . A G . . ANN=G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding||c.*3834A>G|||||2724|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding||c.*3489A>G|||||2763|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding||c.*3876A>G|||||2763|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding||c.*3957A>G|||||2763|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding||c.*4029A>G|||||2759|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding||c.*3551A>G|||||2864|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding||c.*3609A>G|||||2762|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron||n.*5250A>G|||||2762|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay||n.*1468A>G|||||2763|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript||n.*708A>G|||||2762|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron||n.*1485A>G|||||2762|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron||n.*3019A>G|||||2763|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron||n.*1453A>G|||||2762|,G|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding||c.*722T>C|||||552|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000431201|protein_coding||c.*460T>C|||||2374|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000429683|protein_coding||c.*609T>C|||||2374|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000486675|processed_transcript||n.*837T>C|||||4512|,G|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000479851|processed_transcript||n.*655T>C|||||4568|,G|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding|5/7|c.697+24T>C||||||,G|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding|5/7|c.595+24T>C||||||,G|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron|4/6|n.880+24T>C||||||,G|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|4/6|n.*446+24T>C||||||,G|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding|6/8|c.595+24T>C||||||,G|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding|5/6|c.595+24T>C||||||,G|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding|5/7|c.667+24T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding|5/7|c.694+24T>C||||||,G|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript|4/5|n.748+24T>C||||||,G|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript|3/4|n.409+24T>C||||||,G|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding|5/5|c.595+24T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron|4/6|n.625T>C||||||,G|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron|4/6|n.892T>C|||||| 22 32017301 . C A,G,T . . ANN=A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding||c.*3834C>A|||||2729|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding||c.*3834C>G|||||2729|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding||c.*3834C>T|||||2729|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding||c.*3489C>A|||||2768|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding||c.*3489C>G|||||2768|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding||c.*3489C>T|||||2768|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding||c.*3876C>A|||||2768|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding||c.*3876C>G|||||2768|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding||c.*3876C>T|||||2768|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding||c.*3957C>A|||||2768|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding||c.*3957C>G|||||2768|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding||c.*3957C>T|||||2768|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding||c.*4029C>A|||||2764|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding||c.*4029C>G|||||2764|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding||c.*4029C>T|||||2764|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding||c.*3551C>A|||||2869|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding||c.*3551C>G|||||2869|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding||c.*3551C>T|||||2869|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding||c.*3609C>A|||||2767|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding||c.*3609C>G|||||2767|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding||c.*3609C>T|||||2767|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron||n.*5250C>A|||||2767|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron||n.*5250C>G|||||2767|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron||n.*5250C>T|||||2767|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay||n.*1468C>A|||||2768|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay||n.*1468C>G|||||2768|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay||n.*1468C>T|||||2768|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript||n.*708C>A|||||2767|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript||n.*708C>G|||||2767|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript||n.*708C>T|||||2767|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron||n.*1485C>A|||||2767|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron||n.*1485C>G|||||2767|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron||n.*1485C>T|||||2767|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron||n.*3019C>A|||||2768|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron||n.*3019C>G|||||2768|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron||n.*3019C>T|||||2768|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron||n.*1453C>A|||||2767|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron||n.*1453C>G|||||2767|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron||n.*1453C>T|||||2767|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding||c.*722G>T|||||547|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding||c.*722G>C|||||547|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding||c.*722G>A|||||547|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000431201|protein_coding||c.*460G>T|||||2369|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000431201|protein_coding||c.*460G>C|||||2369|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000431201|protein_coding||c.*460G>A|||||2369|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000429683|protein_coding||c.*609G>T|||||2369|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000429683|protein_coding||c.*609G>C|||||2369|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000429683|protein_coding||c.*609G>A|||||2369|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000486675|processed_transcript||n.*837G>T|||||4507|,G|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000486675|processed_transcript||n.*837G>C|||||4507|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000486675|processed_transcript||n.*837G>A|||||4507|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000479851|processed_transcript||n.*655G>T|||||4563|,G|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000479851|processed_transcript||n.*655G>C|||||4563|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000479851|processed_transcript||n.*655G>A|||||4563|,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding|5/7|c.697+19G>T||||||,G|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding|5/7|c.697+19G>C||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding|5/7|c.697+19G>A||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding|5/7|c.595+19G>T||||||,G|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding|5/7|c.595+19G>C||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding|5/7|c.595+19G>A||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron|4/6|n.880+19G>T||||||,G|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron|4/6|n.880+19G>C||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron|4/6|n.880+19G>A||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|4/6|n.*446+19G>T||||||,G|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|4/6|n.*446+19G>C||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|4/6|n.*446+19G>A||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding|6/8|c.595+19G>T||||||,G|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding|6/8|c.595+19G>C||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding|6/8|c.595+19G>A||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding|5/6|c.595+19G>T||||||,G|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding|5/6|c.595+19G>C||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding|5/6|c.595+19G>A||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding|5/7|c.667+19G>T||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding|5/7|c.667+19G>C||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding|5/7|c.667+19G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding|5/7|c.694+19G>T||||||,G|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding|5/7|c.694+19G>C||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding|5/7|c.694+19G>A||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript|4/5|n.748+19G>T||||||,G|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript|4/5|n.748+19G>C||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript|4/5|n.748+19G>A||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript|3/4|n.409+19G>T||||||,G|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript|3/4|n.409+19G>C||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript|3/4|n.409+19G>A||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding|5/5|c.595+19G>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding|5/5|c.595+19G>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding|5/5|c.595+19G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron|4/6|n.620G>T||||||,G|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron|4/6|n.620G>C||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron|4/6|n.620G>A||||||,A|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron|4/6|n.887G>T||||||,G|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron|4/6|n.887G>C||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron|4/6|n.887G>A|||||| 22 32017587 . G A . . ANN=A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding||c.*3834G>A|||||3015|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding||c.*3489G>A|||||3054|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding||c.*3876G>A|||||3054|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding||c.*3957G>A|||||3054|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding||c.*4029G>A|||||3050|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding||c.*3551G>A|||||3155|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding||c.*3609G>A|||||3053|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron||n.*5250G>A|||||3053|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay||n.*1468G>A|||||3054|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript||n.*708G>A|||||3053|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron||n.*1485G>A|||||3053|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron||n.*3019G>A|||||3054|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron||n.*1453G>A|||||3053|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding||c.*722C>T|||||261|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000431201|protein_coding||c.*460C>T|||||2083|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000429683|protein_coding||c.*609C>T|||||2083|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000486675|processed_transcript||n.*837C>T|||||4221|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000479851|processed_transcript||n.*655C>T|||||4277|,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding|4/7|c.558+48C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding|4/7|c.456+48C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|3/6|n.*307+48C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding|5/8|c.456+48C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron|3/5|n.462+48C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding|4/6|c.456+48C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding|4/7|c.528+48C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding|4/7|c.555+51C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript|3/5|n.609+48C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript|2/4|n.270+48C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding|4/5|c.456+48C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron|4/7|n.613C>T||||||,A|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron|4/6|n.601C>T|||||| 22 32017608 . C A . . ANN=A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding||c.*3834C>A|||||3036|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding||c.*3489C>A|||||3075|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding||c.*3876C>A|||||3075|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding||c.*3957C>A|||||3075|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding||c.*4029C>A|||||3071|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding||c.*3551C>A|||||3176|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding||c.*3609C>A|||||3074|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron||n.*5250C>A|||||3074|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay||n.*1468C>A|||||3075|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript||n.*708C>A|||||3074|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron||n.*1485C>A|||||3074|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron||n.*3019C>A|||||3075|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron||n.*1453C>A|||||3074|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding||c.*722G>T|||||240|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000431201|protein_coding||c.*460G>T|||||2062|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000429683|protein_coding||c.*609G>T|||||2062|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000486675|processed_transcript||n.*837G>T|||||4200|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000479851|processed_transcript||n.*655G>T|||||4256|,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding|4/7|c.558+27G>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding|4/7|c.456+27G>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|3/6|n.*307+27G>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding|5/8|c.456+27G>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron|3/5|n.462+27G>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding|4/6|c.456+27G>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding|4/7|c.528+27G>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding|4/7|c.555+30G>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript|3/5|n.609+27G>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript|2/4|n.270+27G>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding|4/5|c.456+27G>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron|4/7|n.592G>T||||||,A|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron|4/6|n.580G>T|||||| 22 32017615 . A G . . ANN=G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding||c.*3834A>G|||||3043|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding||c.*3489A>G|||||3082|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding||c.*3876A>G|||||3082|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding||c.*3957A>G|||||3082|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding||c.*4029A>G|||||3078|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding||c.*3551A>G|||||3183|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding||c.*3609A>G|||||3081|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron||n.*5250A>G|||||3081|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay||n.*1468A>G|||||3082|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript||n.*708A>G|||||3081|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron||n.*1485A>G|||||3081|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron||n.*3019A>G|||||3082|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron||n.*1453A>G|||||3081|,G|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding||c.*722T>C|||||233|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000431201|protein_coding||c.*460T>C|||||2055|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000429683|protein_coding||c.*609T>C|||||2055|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000486675|processed_transcript||n.*837T>C|||||4193|,G|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000479851|processed_transcript||n.*655T>C|||||4249|,G|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding|4/7|c.558+20T>C||||||,G|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding|4/7|c.456+20T>C||||||,G|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|3/6|n.*307+20T>C||||||,G|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding|5/8|c.456+20T>C||||||,G|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron|3/5|n.462+20T>C||||||,G|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding|4/6|c.456+20T>C||||||,G|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding|4/7|c.528+20T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding|4/7|c.555+23T>C||||||,G|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript|3/5|n.609+20T>C||||||,G|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript|2/4|n.270+20T>C||||||,G|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding|4/5|c.456+20T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron|4/7|n.585T>C||||||,G|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron|4/6|n.573T>C|||||| 22 32017637 . C G . . ANN=G|splice_donor_variant&intron_variant|HIGH|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding|4/7|c.555+1G>C||||||,G|missense_variant&splice_region_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding|4/8|c.556G>C|p.Val186Leu|780/1963|556/1230|186/409||,G|missense_variant&splice_region_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding|4/8|c.454G>C|p.Val152Leu|874/2669|454/1128|152/375||,G|missense_variant&splice_region_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding|5/9|c.454G>C|p.Val152Leu|884/2655|454/1128|152/375||,G|missense_variant&splice_region_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding|4/7|c.454G>C|p.Val152Leu|683/2194|454/789|152/262||,G|missense_variant&splice_region_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding|4/8|c.526G>C|p.Val176Leu|528/1723|526/1086|176/361||WARNING_TRANSCRIPT_NO_START_CODON,G|missense_variant&splice_region_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding|4/6|c.454G>C|p.Val152Leu|785/1015|454/684|152/227||WARNING_TRANSCRIPT_NO_STOP_CODON,G|splice_region_variant&non_coding_exon_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|3/7|n.*305G>C||||||,G|splice_region_variant&non_coding_exon_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron|3/6|n.460G>C||||||,G|splice_region_variant&non_coding_exon_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript|3/6|n.607G>C||||||,G|splice_region_variant&non_coding_exon_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript|2/5|n.268G>C||||||,G|3_prime_UTR_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|3/7|n.*305G>C|||||26520|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding||c.*3834C>G|||||3065|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding||c.*3489C>G|||||3104|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding||c.*3876C>G|||||3104|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding||c.*3957C>G|||||3104|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding||c.*4029C>G|||||3100|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding||c.*3551C>G|||||3205|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding||c.*3609C>G|||||3103|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron||n.*5250C>G|||||3103|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay||n.*1468C>G|||||3104|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript||n.*708C>G|||||3103|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron||n.*1485C>G|||||3103|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron||n.*3019C>G|||||3104|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron||n.*1453C>G|||||3103|,G|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding||c.*722G>C|||||211|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000431201|protein_coding||c.*460G>C|||||2033|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000429683|protein_coding||c.*609G>C|||||2033|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000486675|processed_transcript||n.*837G>C|||||4171|,G|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000479851|processed_transcript||n.*655G>C|||||4227|,G|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron|4/7|n.563G>C||||||,G|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron|4/6|n.551G>C||||||;LOF=(PISD|ENSG00000241878|18|0.06) 22 32017655 . C T . . ANN=T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding|4/8|c.538G>A|p.Val180Ile|762/1963|538/1230|180/409||,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding|4/8|c.436G>A|p.Val146Ile|856/2669|436/1128|146/375||,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding|5/9|c.436G>A|p.Val146Ile|866/2655|436/1128|146/375||,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding|4/7|c.436G>A|p.Val146Ile|665/2194|436/789|146/262||,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding|4/8|c.508G>A|p.Val170Ile|510/1723|508/1086|170/361||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding|4/8|c.538G>A|p.Val180Ile|538/1736|538/1227|180/408||,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding|4/6|c.436G>A|p.Val146Ile|767/1015|436/684|146/227||WARNING_TRANSCRIPT_NO_STOP_CODON,T|3_prime_UTR_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|3/7|n.*287G>A|||||26502|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding||c.*3834C>T|||||3083|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding||c.*3489C>T|||||3122|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding||c.*3876C>T|||||3122|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding||c.*3957C>T|||||3122|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding||c.*4029C>T|||||3118|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding||c.*3551C>T|||||3223|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding||c.*3609C>T|||||3121|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron||n.*5250C>T|||||3121|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay||n.*1468C>T|||||3122|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript||n.*708C>T|||||3121|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron||n.*1485C>T|||||3121|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron||n.*3019C>T|||||3122|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron||n.*1453C>T|||||3121|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding||c.*722G>A|||||193|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000431201|protein_coding||c.*460G>A|||||2015|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000429683|protein_coding||c.*609G>A|||||2015|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000486675|processed_transcript||n.*837G>A|||||4153|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000479851|processed_transcript||n.*655G>A|||||4209|,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron|4/7|n.545G>A||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|3/7|n.*287G>A||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron|3/6|n.442G>A||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron|4/6|n.533G>A||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript|3/6|n.589G>A||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript|2/5|n.250G>A|||||| 22 32017659 . C T . . ANN=T|synonymous_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding|4/8|c.534G>A|p.Arg178Arg|758/1963|534/1230|178/409||,T|synonymous_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding|4/8|c.432G>A|p.Arg144Arg|852/2669|432/1128|144/375||,T|synonymous_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding|5/9|c.432G>A|p.Arg144Arg|862/2655|432/1128|144/375||,T|synonymous_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding|4/7|c.432G>A|p.Arg144Arg|661/2194|432/789|144/262||,T|synonymous_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding|4/8|c.504G>A|p.Arg168Arg|506/1723|504/1086|168/361||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding|4/8|c.534G>A|p.Arg178Arg|534/1736|534/1227|178/408||,T|synonymous_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding|4/6|c.432G>A|p.Arg144Arg|763/1015|432/684|144/227||WARNING_TRANSCRIPT_NO_STOP_CODON,T|3_prime_UTR_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|3/7|n.*283G>A|||||26498|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding||c.*3834C>T|||||3087|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding||c.*3489C>T|||||3126|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding||c.*3876C>T|||||3126|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding||c.*3957C>T|||||3126|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding||c.*4029C>T|||||3122|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding||c.*3551C>T|||||3227|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding||c.*3609C>T|||||3125|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron||n.*5250C>T|||||3125|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay||n.*1468C>T|||||3126|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript||n.*708C>T|||||3125|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron||n.*1485C>T|||||3125|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron||n.*3019C>T|||||3126|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron||n.*1453C>T|||||3125|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding||c.*722G>A|||||189|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000431201|protein_coding||c.*460G>A|||||2011|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000429683|protein_coding||c.*609G>A|||||2011|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000486675|processed_transcript||n.*837G>A|||||4149|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000479851|processed_transcript||n.*655G>A|||||4205|,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron|4/7|n.541G>A||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|3/7|n.*283G>A||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron|3/6|n.438G>A||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron|4/6|n.529G>A||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript|3/6|n.585G>A||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript|2/5|n.246G>A|||||| 22 32017716 . C T . . ANN=T|synonymous_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding|4/8|c.477G>A|p.Leu159Leu|701/1963|477/1230|159/409||,T|synonymous_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding|4/8|c.375G>A|p.Leu125Leu|795/2669|375/1128|125/375||,T|synonymous_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding|5/9|c.375G>A|p.Leu125Leu|805/2655|375/1128|125/375||,T|synonymous_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding|4/7|c.375G>A|p.Leu125Leu|604/2194|375/789|125/262||,T|synonymous_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding|4/8|c.447G>A|p.Leu149Leu|449/1723|447/1086|149/361||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding|4/8|c.477G>A|p.Leu159Leu|477/1736|477/1227|159/408||,T|synonymous_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding|4/6|c.375G>A|p.Leu125Leu|706/1015|375/684|125/227||WARNING_TRANSCRIPT_NO_STOP_CODON,T|3_prime_UTR_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|3/7|n.*226G>A|||||26441|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding||c.*3834C>T|||||3144|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding||c.*3489C>T|||||3183|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding||c.*3876C>T|||||3183|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding||c.*3957C>T|||||3183|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding||c.*4029C>T|||||3179|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding||c.*3551C>T|||||3284|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding||c.*3609C>T|||||3182|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron||n.*5250C>T|||||3182|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay||n.*1468C>T|||||3183|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript||n.*708C>T|||||3182|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron||n.*1485C>T|||||3182|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron||n.*3019C>T|||||3183|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron||n.*1453C>T|||||3182|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding||c.*722G>A|||||132|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000431201|protein_coding||c.*460G>A|||||1954|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000429683|protein_coding||c.*609G>A|||||1954|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000486675|processed_transcript||n.*837G>A|||||4092|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000479851|processed_transcript||n.*655G>A|||||4148|,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron|4/7|n.484G>A||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|3/7|n.*226G>A||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron|3/6|n.381G>A||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron|4/6|n.472G>A||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript|3/6|n.528G>A||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript|2/5|n.189G>A|||||| 22 32017778 . C T . . ANN=T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding|4/8|c.415G>A|p.Val139Ile|639/1963|415/1230|139/409||,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding|4/8|c.313G>A|p.Val105Ile|733/2669|313/1128|105/375||,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding|5/9|c.313G>A|p.Val105Ile|743/2655|313/1128|105/375||,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding|4/7|c.313G>A|p.Val105Ile|542/2194|313/789|105/262||,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding|4/8|c.385G>A|p.Val129Ile|387/1723|385/1086|129/361||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding|4/8|c.415G>A|p.Val139Ile|415/1736|415/1227|139/408||,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding|4/6|c.313G>A|p.Val105Ile|644/1015|313/684|105/227||WARNING_TRANSCRIPT_NO_STOP_CODON,T|3_prime_UTR_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|3/7|n.*164G>A|||||26379|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding||c.*3834C>T|||||3206|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding||c.*3489C>T|||||3245|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding||c.*3876C>T|||||3245|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding||c.*3957C>T|||||3245|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding||c.*4029C>T|||||3241|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding||c.*3551C>T|||||3346|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding||c.*3609C>T|||||3244|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron||n.*5250C>T|||||3244|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay||n.*1468C>T|||||3245|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript||n.*708C>T|||||3244|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron||n.*1485C>T|||||3244|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron||n.*3019C>T|||||3245|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron||n.*1453C>T|||||3244|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding||c.*722G>A|||||70|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000431201|protein_coding||c.*460G>A|||||1892|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000429683|protein_coding||c.*609G>A|||||1892|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000486675|processed_transcript||n.*837G>A|||||4030|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000479851|processed_transcript||n.*655G>A|||||4086|,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron|4/7|n.422G>A||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|3/7|n.*164G>A||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron|3/6|n.319G>A||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron|4/6|n.410G>A||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript|3/6|n.466G>A||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript|2/5|n.127G>A|||||| 22 32019630 . G A . . ANN=A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000431201|protein_coding||c.*460C>T|||||40|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000429683|protein_coding||c.*609C>T|||||40|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000486675|processed_transcript||n.*837C>T|||||2178|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000479851|processed_transcript||n.*655C>T|||||2234|,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding|3/7|c.322-1759C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding|3/7|c.219+40C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron|3/6|n.329-1759C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|2/6|n.*71-1759C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding|4/8|c.219+40C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron|2/5|n.225+40C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding|3/6|c.219+40C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding|3/7|c.292-1759C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding|3/7|c.322-1759C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron|3/5|n.317-1759C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript|2/5|n.372+40C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript|1/4|n.34-1759C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding|3/5|c.219+40C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding|2/2|c.219+40C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 32019645 . G A . . ANN=A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000431201|protein_coding||c.*460C>T|||||25|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000429683|protein_coding||c.*609C>T|||||25|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000486675|processed_transcript||n.*837C>T|||||2163|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000479851|processed_transcript||n.*655C>T|||||2219|,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding|3/7|c.322-1774C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding|3/7|c.219+25C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron|3/6|n.329-1774C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|2/6|n.*71-1774C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding|4/8|c.219+25C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron|2/5|n.225+25C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding|3/6|c.219+25C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding|3/7|c.292-1774C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding|3/7|c.322-1774C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron|3/5|n.317-1774C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript|2/5|n.372+25C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript|1/4|n.34-1774C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding|3/5|c.219+25C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding|2/2|c.219+25C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 32019696 . G A . . ANN=A|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding|3/8|c.193C>T|p.Arg65Trp|613/2669|193/1128|65/375||,A|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding|4/9|c.193C>T|p.Arg65Trp|623/2655|193/1128|65/375||,A|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding|3/7|c.193C>T|p.Arg65Trp|422/2194|193/789|65/262||,A|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding|3/6|c.193C>T|p.Arg65Trp|524/1015|193/684|65/227||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding|2/3|c.193C>T|p.Arg65Trp|672/722|193/243|65/80||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000431201|protein_coding|3/3|c.193C>T|p.Arg65Trp|434/460|193/219|65/72||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000429683|protein_coding|4/4|c.193C>T|p.Arg65Trp|583/609|193/219|65/72||WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000486675|processed_transcript||n.*837C>T|||||2112|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000479851|processed_transcript||n.*655C>T|||||2168|,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding|3/7|c.322-1825C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron|3/6|n.329-1825C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|2/6|n.*71-1825C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding|3/7|c.292-1825C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding|3/7|c.322-1825C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron|3/5|n.317-1825C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript|1/4|n.34-1825C>T||||||,A|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron|2/6|n.199C>T||||||,A|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript|2/6|n.346C>T|||||| 22 32019741 . C T . . ANN=T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding|3/8|c.148G>A|p.Val50Ile|568/2669|148/1128|50/375||,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding|4/9|c.148G>A|p.Val50Ile|578/2655|148/1128|50/375||,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding|3/7|c.148G>A|p.Val50Ile|377/2194|148/789|50/262||,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding|3/6|c.148G>A|p.Val50Ile|479/1015|148/684|50/227||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding|2/3|c.148G>A|p.Val50Ile|627/722|148/243|50/80||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000431201|protein_coding|3/3|c.148G>A|p.Val50Ile|389/460|148/219|50/72||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000429683|protein_coding|4/4|c.148G>A|p.Val50Ile|538/609|148/219|50/72||WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000486675|processed_transcript||n.*837G>A|||||2067|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000479851|processed_transcript||n.*655G>A|||||2123|,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding|3/7|c.322-1870G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron|3/6|n.329-1870G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|2/6|n.*71-1870G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding|3/7|c.292-1870G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding|3/7|c.322-1870G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron|3/5|n.317-1870G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript|1/4|n.34-1870G>A||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron|2/6|n.154G>A||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript|2/6|n.301G>A|||||| 22 32019772 . G A . . ANN=A|synonymous_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding|3/8|c.117C>T|p.Pro39Pro|537/2669|117/1128|39/375||,A|synonymous_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding|4/9|c.117C>T|p.Pro39Pro|547/2655|117/1128|39/375||,A|synonymous_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding|3/7|c.117C>T|p.Pro39Pro|346/2194|117/789|39/262||,A|synonymous_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding|3/6|c.117C>T|p.Pro39Pro|448/1015|117/684|39/227||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding|2/3|c.117C>T|p.Pro39Pro|596/722|117/243|39/80||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000431201|protein_coding|3/3|c.117C>T|p.Pro39Pro|358/460|117/219|39/72||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|PISD|ENSG00000241878|transcript|ENST00000429683|protein_coding|4/4|c.117C>T|p.Pro39Pro|507/609|117/219|39/72||WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000486675|processed_transcript||n.*837C>T|||||2036|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000479851|processed_transcript||n.*655C>T|||||2092|,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding|3/7|c.322-1901C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron|3/6|n.329-1901C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|2/6|n.*71-1901C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding|3/7|c.292-1901C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding|3/7|c.322-1901C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron|3/5|n.317-1901C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript|1/4|n.34-1901C>T||||||,A|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron|2/6|n.123C>T||||||,A|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript|2/6|n.270C>T|||||| 22 32019806 . C T . . ANN=T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding|3/8|c.83G>A|p.Arg28Gln|503/2669|83/1128|28/375||,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding|4/9|c.83G>A|p.Arg28Gln|513/2655|83/1128|28/375||,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding|3/7|c.83G>A|p.Arg28Gln|312/2194|83/789|28/262||,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding|3/6|c.83G>A|p.Arg28Gln|414/1015|83/684|28/227||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding|2/3|c.83G>A|p.Arg28Gln|562/722|83/243|28/80||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000431201|protein_coding|3/3|c.83G>A|p.Arg28Gln|324/460|83/219|28/72||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000429683|protein_coding|4/4|c.83G>A|p.Arg28Gln|473/609|83/219|28/72||WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000486675|processed_transcript||n.*837G>A|||||2002|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000479851|processed_transcript||n.*655G>A|||||2058|,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding|3/7|c.322-1935G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron|3/6|n.329-1935G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|2/6|n.*71-1935G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding|3/7|c.292-1935G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding|3/7|c.322-1935G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron|3/5|n.317-1935G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript|1/4|n.34-1935G>A||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron|2/6|n.89G>A||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript|2/6|n.236G>A|||||| 22 32019824 . G C . . ANN=C|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding|3/8|c.65C>G|p.Pro22Arg|485/2669|65/1128|22/375||,C|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding|4/9|c.65C>G|p.Pro22Arg|495/2655|65/1128|22/375||,C|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding|3/7|c.65C>G|p.Pro22Arg|294/2194|65/789|22/262||,C|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding|3/6|c.65C>G|p.Pro22Arg|396/1015|65/684|22/227||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding|2/3|c.65C>G|p.Pro22Arg|544/722|65/243|22/80||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000431201|protein_coding|3/3|c.65C>G|p.Pro22Arg|306/460|65/219|22/72||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000429683|protein_coding|4/4|c.65C>G|p.Pro22Arg|455/609|65/219|22/72||WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000486675|processed_transcript||n.*837C>G|||||1984|,C|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000479851|processed_transcript||n.*655C>G|||||2040|,C|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding|3/7|c.322-1953C>G||||||,C|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron|3/6|n.329-1953C>G||||||,C|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|2/6|n.*71-1953C>G||||||,C|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding|3/7|c.292-1953C>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding|3/7|c.322-1953C>G||||||,C|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron|3/5|n.317-1953C>G||||||,C|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript|1/4|n.34-1953C>G||||||,C|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron|2/6|n.71C>G||||||,C|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript|2/6|n.218C>G|||||| 22 32021729 . C A,T . . ANN=A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000486675|processed_transcript||n.*837G>T|||||79|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000486675|processed_transcript||n.*837G>A|||||79|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000479851|processed_transcript||n.*655G>T|||||135|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000479851|processed_transcript||n.*655G>A|||||135|,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding|3/7|c.322-3858G>T||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding|3/7|c.322-3858G>A||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding|2/7|c.53+20G>T||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding|2/7|c.53+20G>A||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron|3/6|n.329-3858G>T||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron|3/6|n.329-3858G>A||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|2/6|n.*71-3858G>T||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|2/6|n.*71-3858G>A||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding|3/8|c.53+20G>T||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding|3/8|c.53+20G>A||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron|1/5|n.60-1894G>T||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron|1/5|n.60-1894G>A||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding|2/6|c.53+20G>T||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding|2/6|c.53+20G>A||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding|3/7|c.292-3858G>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding|3/7|c.292-3858G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding|3/7|c.322-3858G>T||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding|3/7|c.322-3858G>A||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron|3/5|n.317-3858G>T||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron|3/5|n.317-3858G>A||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript|1/4|n.34-3858G>T||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript|1/4|n.34-3858G>A||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding|2/5|c.53+20G>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding|2/5|c.53+20G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding|1/2|c.53+20G>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding|1/2|c.53+20G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000431201|protein_coding|2/2|c.53+20G>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000431201|protein_coding|2/2|c.53+20G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000429683|protein_coding|3/3|c.53+20G>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000429683|protein_coding|3/3|c.53+20G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript|1/6|n.44G>T||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript|1/6|n.44G>A|||||| 22 32021836 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding|2/8|c.-35G>A|||||35|,T|5_prime_UTR_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding|3/9|c.-35G>A|||||35|,T|5_prime_UTR_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding|2/7|c.-35G>A|||||35|,T|5_prime_UTR_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding|2/6|c.-35G>A|||||35|WARNING_TRANSCRIPT_NO_STOP_CODON,T|5_prime_UTR_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding|1/3|c.-35G>A|||||35|WARNING_TRANSCRIPT_NO_STOP_CODON,T|5_prime_UTR_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000431201|protein_coding|2/3|c.-35G>A|||||35|WARNING_TRANSCRIPT_NO_STOP_CODON,T|5_prime_UTR_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000429683|protein_coding|3/4|c.-35G>A|||||35|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript||n.-1G>A|||||64|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000479851|processed_transcript||n.*655G>A|||||28|,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding|3/7|c.322-3965G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron|3/6|n.329-3965G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|2/6|n.*71-3965G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron|1/5|n.60-2001G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding|3/7|c.292-3965G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding|3/7|c.322-3965G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron|3/5|n.317-3965G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript|1/4|n.34-3965G>A||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000486675|processed_transcript|4/4|n.809G>A|||||| 22 32084131 . T G . . ANN=G|intron_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000327423|protein_coding|8/8|c.6179+11A>C||||||,G|intron_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000330495|protein_coding|5/5|c.1085+11A>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000397493|protein_coding|8/8|c.6179+11A>C||||||,G|intron_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000432485|nonsense_mediated_decay|3/4|n.347+11A>C||||||,G|intron_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000434485|protein_coding|7/7|c.*51+11A>C||||||,G|intron_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000431684|nonsense_mediated_decay|4/4|n.*51+11A>C|||||| 22 32084234 . A G . . ANN=G|intron_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000327423|protein_coding|7/8|c.6108-21T>C||||||,G|intron_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000330495|protein_coding|4/5|c.1014-21T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000397493|protein_coding|7/8|c.6108-21T>C||||||,G|intron_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000432485|nonsense_mediated_decay|2/4|n.276-21T>C||||||,G|intron_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000434485|protein_coding|6/7|c.6001-21T>C||||||,G|intron_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000431684|nonsense_mediated_decay|3/4|n.2008-21T>C|||||| 22 32084246 . TTCTC T,TTC . . ANN=|intron_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000327423|protein_coding|7/8|c.6108-37_6108-34delGAGA||||||,|intron_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000327423|protein_coding|7/8|c.6108-37_6108-36delGA||||||,|intron_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000330495|protein_coding|4/5|c.1014-37_1014-34delGAGA||||||WARNING_TRANSCRIPT_NO_START_CODON,|intron_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000330495|protein_coding|4/5|c.1014-37_1014-36delGA||||||WARNING_TRANSCRIPT_NO_START_CODON,|intron_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000397493|protein_coding|7/8|c.6108-37_6108-34delGAGA||||||,|intron_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000397493|protein_coding|7/8|c.6108-37_6108-36delGA||||||,|intron_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000432485|nonsense_mediated_decay|2/4|n.276-37_276-34delGAGA||||||,|intron_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000432485|nonsense_mediated_decay|2/4|n.276-37_276-36delGA||||||,|intron_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000434485|protein_coding|6/7|c.6001-37_6001-34delGAGA||||||,|intron_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000434485|protein_coding|6/7|c.6001-37_6001-36delGA||||||,|intron_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000431684|nonsense_mediated_decay|3/4|n.2008-37_2008-34delGAGA||||||,|intron_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000431684|nonsense_mediated_decay|3/4|n.2008-37_2008-36delGA|||||| 22 32084255 . TC T . . ANN=|intron_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000327423|protein_coding|7/8|c.6108-43delG||||||,|intron_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000330495|protein_coding|4/5|c.1014-43delG||||||WARNING_TRANSCRIPT_NO_START_CODON,|intron_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000397493|protein_coding|7/8|c.6108-43delG||||||,|intron_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000432485|nonsense_mediated_decay|2/4|n.276-43delG||||||,|intron_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000434485|protein_coding|6/7|c.6001-43delG||||||,|intron_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000431684|nonsense_mediated_decay|3/4|n.2008-43delG|||||| 22 32084256 . C T . . ANN=T|intron_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000327423|protein_coding|7/8|c.6108-43G>A||||||,T|intron_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000330495|protein_coding|4/5|c.1014-43G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000397493|protein_coding|7/8|c.6108-43G>A||||||,T|intron_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000432485|nonsense_mediated_decay|2/4|n.276-43G>A||||||,T|intron_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000434485|protein_coding|6/7|c.6001-43G>A||||||,T|intron_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000431684|nonsense_mediated_decay|3/4|n.2008-43G>A|||||| 22 32097775 . T C . . ANN=C|downstream_gene_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000492705|processed_transcript||n.*548A>G|||||2655|,C|intron_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000327423|protein_coding|6/8|c.6001-27A>G||||||,C|intron_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000330495|protein_coding|3/5|c.907-27A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000397493|protein_coding|6/8|c.6001-27A>G||||||,C|intron_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000432485|nonsense_mediated_decay|1/4|n.169-27A>G||||||,C|intron_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000434485|protein_coding|6/7|c.6000+1761A>G||||||,C|intron_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000431684|nonsense_mediated_decay|3/4|n.2007+1761A>G|||||| 22 32099626 . G A . . ANN=A|synonymous_variant|LOW|PRR14L|ENSG00000183530|transcript|ENST00000327423|protein_coding|6/9|c.5910C>T|p.Ala1970Ala|6100/10826|5910/6456|1970/2151||,A|synonymous_variant|LOW|PRR14L|ENSG00000183530|transcript|ENST00000330495|protein_coding|3/6|c.816C>T|p.Ala272Ala|817/1849|816/1356|272/451||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|PRR14L|ENSG00000183530|transcript|ENST00000397493|protein_coding|6/9|c.5910C>T|p.Ala1970Ala|6103/6643|5910/6450|1970/2149||,A|synonymous_variant|LOW|PRR14L|ENSG00000183530|transcript|ENST00000434485|protein_coding|6/8|c.5910C>T|p.Ala1970Ala|6103/10719|5910/6021|1970/2006||,A|downstream_gene_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000492705|processed_transcript||n.*548C>T|||||804|,A|non_coding_exon_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000432485|nonsense_mediated_decay|1/5|n.78C>T||||||,A|non_coding_exon_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000431684|nonsense_mediated_decay|3/5|n.1917C>T|||||| 22 32099737 . G C . . ANN=C|upstream_gene_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000432485|nonsense_mediated_decay||n.-2C>G|||||33|,C|downstream_gene_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000492705|processed_transcript||n.*548C>G|||||693|,C|intron_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000327423|protein_coding|5/8|c.5829-30C>G||||||,C|intron_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000330495|protein_coding|2/5|c.735-30C>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000397493|protein_coding|5/8|c.5829-30C>G||||||,C|intron_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000434485|protein_coding|5/7|c.5829-30C>G||||||,C|intron_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000431684|nonsense_mediated_decay|2/4|n.1836-30C>G|||||| 22 32100620 . C T . . ANN=T|upstream_gene_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000432485|nonsense_mediated_decay||n.-2G>A|||||916|,T|intron_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000327423|protein_coding|5/8|c.5828+21G>A||||||,T|intron_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000330495|protein_coding|2/5|c.734+21G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000397493|protein_coding|5/8|c.5828+21G>A||||||,T|intron_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000434485|protein_coding|5/7|c.5828+21G>A||||||,T|intron_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000431684|nonsense_mediated_decay|2/4|n.1835+21G>A||||||,T|non_coding_exon_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000492705|processed_transcript|2/2|n.358G>A|||||| 22 32108185 . C T . . ANN=T|synonymous_variant|LOW|PRR14L|ENSG00000183530|transcript|ENST00000327423|protein_coding|4/9|c.5640G>A|p.Ser1880Ser|5830/10826|5640/6456|1880/2151||,T|synonymous_variant|LOW|PRR14L|ENSG00000183530|transcript|ENST00000330495|protein_coding|1/6|c.546G>A|p.Ser182Ser|547/1849|546/1356|182/451||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|PRR14L|ENSG00000183530|transcript|ENST00000397493|protein_coding|4/9|c.5640G>A|p.Ser1880Ser|5833/6643|5640/6450|1880/2149||,T|synonymous_variant|LOW|PRR14L|ENSG00000183530|transcript|ENST00000434485|protein_coding|4/8|c.5640G>A|p.Ser1880Ser|5833/10719|5640/6021|1880/2006||,T|downstream_gene_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000461722|processed_transcript||n.*718G>A|||||4528|,T|non_coding_exon_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000431684|nonsense_mediated_decay|1/5|n.1647G>A||||||,T|non_coding_exon_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000492705|processed_transcript|1/2|n.149G>A|||||| 22 32150866 . C G . . ANN=G|5_prime_UTR_premature_start_codon_gain_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|1/42|c.-42C>G||||||,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000437411|protein_coding|2/3|c.-42C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000456178|nonsense_mediated_decay|2/8|n.-42C>G||||||,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|2/40|c.-42C>G||||||,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|2/22|c.-42C>G||||||,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400242|protein_coding|2/22|c.-42C>G||||||,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|2/42|c.-42C>G||||||,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|2/40|c.-42C>G||||||,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|2/42|c.-42C>G||||||,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|2/42|c.-42C>G||||||,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|1/41|c.-42C>G||||||,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|1/41|c.-42C>G||||||,G|5_prime_UTR_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|1/42|c.-42C>G|||||42|,G|5_prime_UTR_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000437411|protein_coding|2/3|c.-42C>G|||||42|WARNING_TRANSCRIPT_INCOMPLETE,G|5_prime_UTR_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000456178|nonsense_mediated_decay|2/8|n.-42C>G|||||42|,G|5_prime_UTR_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|2/40|c.-42C>G|||||42|,G|5_prime_UTR_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|2/22|c.-42C>G|||||42|,G|5_prime_UTR_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400242|protein_coding|2/22|c.-42C>G|||||42|,G|5_prime_UTR_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|2/42|c.-42C>G|||||42|,G|5_prime_UTR_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|2/40|c.-42C>G|||||42|,G|5_prime_UTR_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|2/42|c.-42C>G|||||42|,G|5_prime_UTR_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|2/42|c.-42C>G|||||42|,G|5_prime_UTR_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|1/41|c.-42C>G|||||42|,G|5_prime_UTR_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|1/41|c.-42C>G|||||42|,G|upstream_gene_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000327423|protein_coding||c.-191G>C|||||4749|,G|upstream_gene_variant|MODIFIER|RN7SL20P|ENSG00000242251|transcript|ENST00000488827|misc_RNA||n.-1C>G|||||2322|,G|upstream_gene_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000397493|protein_coding||c.-194G>C|||||4746|,G|upstream_gene_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000434485|protein_coding||c.-194G>C|||||4746|,G|upstream_gene_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000461722|processed_transcript||n.-1G>C|||||4808|,G|upstream_gene_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000412743|protein_coding||c.-121G>C|||||4740|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000469969|retained_intron|2/2|n.46C>G||||||,G|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000456178|nonsense_mediated_decay|2/8|n.-42C>G|||||| 22 32150997 . A T . . ANN=T|upstream_gene_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000327423|protein_coding||c.-191T>A|||||4880|,T|upstream_gene_variant|MODIFIER|RN7SL20P|ENSG00000242251|transcript|ENST00000488827|misc_RNA||n.-1A>T|||||2191|,T|upstream_gene_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000397493|protein_coding||c.-194T>A|||||4877|,T|upstream_gene_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000434485|protein_coding||c.-194T>A|||||4877|,T|upstream_gene_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000461722|processed_transcript||n.-1T>A|||||4939|,T|upstream_gene_variant|MODIFIER|PRR14L|ENSG00000183530|transcript|ENST00000412743|protein_coding||c.-121T>A|||||4871|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|1/41|c.58+32A>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000437411|protein_coding|2/2|c.58+32A>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000456178|nonsense_mediated_decay|2/7|n.58+32A>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|2/39|c.58+32A>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|2/21|c.58+32A>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400242|protein_coding|2/21|c.58+32A>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|2/41|c.58+32A>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|2/39|c.58+32A>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|2/41|c.58+32A>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|2/41|c.58+32A>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|1/40|c.58+32A>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|1/40|c.58+32A>T||||||,T|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000469969|retained_intron|2/2|n.177A>T|||||| 22 32154482 . G C . . ANN=C|downstream_gene_variant|MODIFIER|RN7SL20P|ENSG00000242251|transcript|ENST00000488827|misc_RNA||n.*295G>C|||||1000|,C|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000469969|retained_intron||n.*677G>C|||||2985|,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|1/41|c.59-50G>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000437411|protein_coding|2/2|c.59-50G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000456178|nonsense_mediated_decay|2/7|n.59-31G>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|2/39|c.59-50G>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|2/21|c.59-50G>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400242|protein_coding|2/21|c.59-50G>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|2/41|c.59-50G>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|2/39|c.59-50G>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|2/41|c.59-50G>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|2/41|c.59-50G>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|1/40|c.59-50G>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|1/40|c.59-50G>C|||||| 22 32154502 . T C . . ANN=C|downstream_gene_variant|MODIFIER|RN7SL20P|ENSG00000242251|transcript|ENST00000488827|misc_RNA||n.*295T>C|||||1020|,C|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000469969|retained_intron||n.*677T>C|||||3005|,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|1/41|c.59-30T>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000437411|protein_coding|2/2|c.59-30T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000456178|nonsense_mediated_decay|2/7|n.59-11T>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|2/39|c.59-30T>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|2/21|c.59-30T>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400242|protein_coding|2/21|c.59-30T>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|2/41|c.59-30T>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|2/39|c.59-30T>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|2/41|c.59-30T>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|2/41|c.59-30T>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|1/40|c.59-30T>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|1/40|c.59-30T>C|||||| 22 32156608 . G A . . ANN=A|downstream_gene_variant|MODIFIER|RN7SL20P|ENSG00000242251|transcript|ENST00000488827|misc_RNA||n.*295G>A|||||3126|,A|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000437411|protein_coding||c.*236G>A|||||1998|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|2/41|c.147-34G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000456178|nonsense_mediated_decay|3/7|n.*85-34G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|3/39|c.147-34G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|3/21|c.147-34G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400242|protein_coding|3/21|c.147-34G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|3/41|c.147-34G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|3/39|c.147-34G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|3/41|c.147-34G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|3/41|c.147-34G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|2/40|c.147-34G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|2/40|c.147-34G>A|||||| 22 32156625 . G A . . ANN=A|downstream_gene_variant|MODIFIER|RN7SL20P|ENSG00000242251|transcript|ENST00000488827|misc_RNA||n.*295G>A|||||3143|,A|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000437411|protein_coding||c.*236G>A|||||2015|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|2/41|c.147-17G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000456178|nonsense_mediated_decay|3/7|n.*85-17G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|3/39|c.147-17G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|3/21|c.147-17G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400242|protein_coding|3/21|c.147-17G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|3/41|c.147-17G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|3/39|c.147-17G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|3/41|c.147-17G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|3/41|c.147-17G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|2/40|c.147-17G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|2/40|c.147-17G>A|||||| 22 32161019 . T C . . ANN=C|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|4/42|c.252T>C|p.Asp84Asp|322/5363|252/4785|84/1594||,C|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|5/40|c.252T>C|p.Asp84Asp|330/4843|252/4512|84/1503||,C|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|5/22|c.252T>C|p.Asp84Asp|423/2300|252/1995|84/664||,C|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400242|protein_coding|5/22|c.252T>C|p.Asp84Asp|408/2395|252/1680|84/559||,C|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|5/42|c.252T>C|p.Asp84Asp|394/5405|252/4746|84/1581||,C|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|5/40|c.252T>C|p.Asp84Asp|394/5128|252/3690|84/1229||,C|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|5/42|c.252T>C|p.Asp84Asp|394/5410|252/4659|84/1552||,C|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|5/42|c.252T>C|p.Asp84Asp|394/5378|252/4719|84/1572||,C|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|4/41|c.252T>C|p.Asp84Asp|312/5212|252/4659|84/1552||,C|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|4/41|c.252T>C|p.Asp84Asp|311/5307|252/4719|84/1572||,C|3_prime_UTR_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000456178|nonsense_mediated_decay|5/8|n.*190T>C|||||6484|,C|upstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000458532|protein_coding||c.-2T>C|||||3819|WARNING_TRANSCRIPT_NO_START_CODON,C|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000456178|nonsense_mediated_decay|5/8|n.*190T>C|||||| 22 32161029 . A G . . ANN=G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|4/42|c.262A>G|p.Asn88Asp|332/5363|262/4785|88/1594||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|5/40|c.262A>G|p.Asn88Asp|340/4843|262/4512|88/1503||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|5/22|c.262A>G|p.Asn88Asp|433/2300|262/1995|88/664||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400242|protein_coding|5/22|c.262A>G|p.Asn88Asp|418/2395|262/1680|88/559||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|5/42|c.262A>G|p.Asn88Asp|404/5405|262/4746|88/1581||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|5/40|c.262A>G|p.Asn88Asp|404/5128|262/3690|88/1229||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|5/42|c.262A>G|p.Asn88Asp|404/5410|262/4659|88/1552||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|5/42|c.262A>G|p.Asn88Asp|404/5378|262/4719|88/1572||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|4/41|c.262A>G|p.Asn88Asp|322/5212|262/4659|88/1552||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|4/41|c.262A>G|p.Asn88Asp|321/5307|262/4719|88/1572||,G|3_prime_UTR_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000456178|nonsense_mediated_decay|5/8|n.*200A>G|||||6494|,G|upstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000458532|protein_coding||c.-2A>G|||||3809|WARNING_TRANSCRIPT_NO_START_CODON,G|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000456178|nonsense_mediated_decay|5/8|n.*200A>G|||||| 22 32161092 . C T . . ANN=T|upstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000458532|protein_coding||c.-2C>T|||||3746|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|4/41|c.279+46C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000456178|nonsense_mediated_decay|5/7|n.*217+46C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|5/39|c.279+46C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|5/21|c.279+46C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400242|protein_coding|5/21|c.279+46C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|5/41|c.279+46C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|5/39|c.279+46C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|5/41|c.279+46C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|5/41|c.279+46C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|4/40|c.279+46C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|4/40|c.279+46C>T|||||| 22 32164790 . C T . . ANN=T|upstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000458532|protein_coding||c.-2C>T|||||48|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|5/41|c.364-10C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000456178|nonsense_mediated_decay|6/7|n.*302-10C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|6/39|c.364-10C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|5/21|c.280-10C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400242|protein_coding|6/21|c.364-10C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|6/41|c.364-10C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|6/39|c.364-10C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|6/41|c.364-10C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|6/41|c.364-10C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|5/40|c.364-10C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|5/40|c.364-10C>T|||||| 22 32164832 . G C . . ANN=C|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|6/42|c.396G>C|p.Val132Val|466/5363|396/4785|132/1594||,C|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|7/40|c.396G>C|p.Val132Val|474/4843|396/4512|132/1503||,C|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|6/22|c.312G>C|p.Val104Val|483/2300|312/1995|104/664||,C|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400242|protein_coding|7/22|c.396G>C|p.Val132Val|552/2395|396/1680|132/559||,C|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|7/42|c.396G>C|p.Val132Val|538/5405|396/4746|132/1581||,C|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|7/40|c.396G>C|p.Val132Val|538/5128|396/3690|132/1229||,C|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|7/42|c.396G>C|p.Val132Val|538/5410|396/4659|132/1552||,C|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|7/42|c.396G>C|p.Val132Val|538/5378|396/4719|132/1572||,C|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|6/41|c.396G>C|p.Val132Val|456/5212|396/4659|132/1552||,C|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|6/41|c.396G>C|p.Val132Val|455/5307|396/4719|132/1572||,C|3_prime_UTR_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000456178|nonsense_mediated_decay|7/8|n.*334G>C|||||10297|,C|upstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000458532|protein_coding||c.-2G>C|||||6|WARNING_TRANSCRIPT_NO_START_CODON,C|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000456178|nonsense_mediated_decay|7/8|n.*334G>C|||||| 22 32164876 . T C . . ANN=C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|6/41|c.413+27T>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000456178|nonsense_mediated_decay|7/7|n.*351+27T>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|7/39|c.413+27T>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|6/21|c.329+27T>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400242|protein_coding|7/21|c.413+27T>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|7/41|c.413+27T>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|7/39|c.413+27T>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|7/41|c.413+27T>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|7/41|c.413+27T>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|6/40|c.413+27T>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|6/40|c.413+27T>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000458532|protein_coding|1/2|c.11+27T>C||||||WARNING_TRANSCRIPT_NO_START_CODON 22 32174058 . T C . . ANN=C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|6/41|c.414-27T>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000456178|nonsense_mediated_decay|7/7|n.*352-27T>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|7/39|c.414-27T>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|6/21|c.330-27T>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400242|protein_coding|7/21|c.414-27T>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|7/41|c.414-27T>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|7/39|c.414-27T>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|7/41|c.414-27T>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|7/41|c.414-27T>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|6/40|c.414-27T>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|6/40|c.414-27T>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000458532|protein_coding|1/2|c.12-27T>C||||||WARNING_TRANSCRIPT_NO_START_CODON 22 32174198 . A G . . ANN=G|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000456178|nonsense_mediated_decay||n.*159A>G|||||75|,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|7/41|c.483+44A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|8/39|c.483+44A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|7/21|c.399+44A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400242|protein_coding|8/21|c.483+44A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|8/41|c.483+44A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|8/39|c.483+44A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|8/41|c.483+44A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|8/41|c.483+44A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|7/40|c.483+44A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|7/40|c.483+44A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000458532|protein_coding|2/2|c.81+44A>G||||||WARNING_TRANSCRIPT_NO_START_CODON 22 32179850 . G C . . ANN=C|upstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000469974|retained_intron||n.-1G>C|||||961|,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|7/41|c.484-43G>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|8/39|c.484-43G>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|7/21|c.400-43G>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400242|protein_coding|8/21|c.484-43G>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|8/41|c.484-43G>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|8/39|c.484-43G>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|8/41|c.484-43G>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|8/41|c.484-43G>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|7/40|c.484-43G>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|7/40|c.484-43G>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000458532|protein_coding|2/2|c.82-43G>C||||||WARNING_TRANSCRIPT_NO_START_CODON 22 32179863 . C G . . ANN=G|upstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000469974|retained_intron||n.-1C>G|||||948|,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|7/41|c.484-30C>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|8/39|c.484-30C>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|7/21|c.400-30C>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400242|protein_coding|8/21|c.484-30C>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|8/41|c.484-30C>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|8/39|c.484-30C>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|8/41|c.484-30C>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|8/41|c.484-30C>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|7/40|c.484-30C>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|7/40|c.484-30C>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000458532|protein_coding|2/2|c.82-30C>G||||||WARNING_TRANSCRIPT_NO_START_CODON 22 32179926 . A C . . ANN=C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|8/42|c.517A>C|p.Ile173Leu|587/5363|517/4785|173/1594||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|9/40|c.517A>C|p.Ile173Leu|595/4843|517/4512|173/1503||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|8/22|c.433A>C|p.Ile145Leu|604/2300|433/1995|145/664||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400242|protein_coding|9/22|c.517A>C|p.Ile173Leu|673/2395|517/1680|173/559||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|9/42|c.517A>C|p.Ile173Leu|659/5405|517/4746|173/1581||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|9/40|c.517A>C|p.Ile173Leu|659/5128|517/3690|173/1229||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|9/42|c.517A>C|p.Ile173Leu|659/5410|517/4659|173/1552||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|9/42|c.517A>C|p.Ile173Leu|659/5378|517/4719|173/1572||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|8/41|c.517A>C|p.Ile173Leu|577/5212|517/4659|173/1552||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|8/41|c.517A>C|p.Ile173Leu|576/5307|517/4719|173/1572||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000458532|protein_coding|3/3|c.115A>C|p.Ile39Leu|116/434|115/180|39/59||WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000469974|retained_intron||n.-1A>C|||||885| 22 32188774 . C G . . ANN=G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|11/42|c.738C>G|p.His246Gln|808/5363|738/4785|246/1594||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|12/40|c.738C>G|p.His246Gln|816/4843|738/4512|246/1503||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|11/22|c.654C>G|p.His218Gln|825/2300|654/1995|218/664||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400242|protein_coding|12/22|c.738C>G|p.His246Gln|894/2395|738/1680|246/559||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|12/42|c.738C>G|p.His246Gln|880/5405|738/4746|246/1581||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|12/40|c.738C>G|p.His246Gln|880/5128|738/3690|246/1229||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|12/42|c.738C>G|p.His246Gln|880/5410|738/4659|246/1552||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|12/42|c.738C>G|p.His246Gln|880/5378|738/4719|246/1572||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|11/41|c.738C>G|p.His246Gln|798/5212|738/4659|246/1552||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|11/41|c.738C>G|p.His246Gln|797/5307|738/4719|246/1572||,G|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000469974|retained_intron|3/6|n.397C>G||||||,G|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000473802|retained_intron|1/5|n.102C>G|||||| 22 32188784 . T G . . ANN=G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|11/42|c.748T>G|p.Phe250Val|818/5363|748/4785|250/1594||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|12/40|c.748T>G|p.Phe250Val|826/4843|748/4512|250/1503||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|11/22|c.664T>G|p.Phe222Val|835/2300|664/1995|222/664||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400242|protein_coding|12/22|c.748T>G|p.Phe250Val|904/2395|748/1680|250/559||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|12/42|c.748T>G|p.Phe250Val|890/5405|748/4746|250/1581||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|12/40|c.748T>G|p.Phe250Val|890/5128|748/3690|250/1229||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|12/42|c.748T>G|p.Phe250Val|890/5410|748/4659|250/1552||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|12/42|c.748T>G|p.Phe250Val|890/5378|748/4719|250/1572||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|11/41|c.748T>G|p.Phe250Val|808/5212|748/4659|250/1552||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|11/41|c.748T>G|p.Phe250Val|807/5307|748/4719|250/1572||,G|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000469974|retained_intron|3/6|n.407T>G||||||,G|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000473802|retained_intron|1/5|n.112T>G|||||| 22 32193631 . C T . . ANN=T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|12/42|c.813C>T|p.Leu271Leu|883/5363|813/4785|271/1594||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|13/40|c.813C>T|p.Leu271Leu|891/4843|813/4512|271/1503||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|12/22|c.729C>T|p.Leu243Leu|900/2300|729/1995|243/664||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400242|protein_coding|13/22|c.813C>T|p.Leu271Leu|969/2395|813/1680|271/559||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|13/42|c.813C>T|p.Leu271Leu|955/5405|813/4746|271/1581||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|13/40|c.813C>T|p.Leu271Leu|955/5128|813/3690|271/1229||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|13/42|c.813C>T|p.Leu271Leu|955/5410|813/4659|271/1552||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|13/42|c.813C>T|p.Leu271Leu|955/5378|813/4719|271/1572||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|12/41|c.813C>T|p.Leu271Leu|873/5212|813/4659|271/1552||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|12/41|c.813C>T|p.Leu271Leu|872/5307|813/4719|271/1572||,T|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000469974|retained_intron|4/6|n.472C>T||||||,T|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000473802|retained_intron|2/5|n.177C>T|||||| 22 32193715 . G A . . ANN=A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|12/41|c.871+26G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|13/39|c.871+26G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|12/21|c.787+26G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400242|protein_coding|13/21|c.871+26G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|13/41|c.871+26G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|13/39|c.871+26G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|13/41|c.871+26G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|13/41|c.871+26G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|12/40|c.871+26G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|12/40|c.871+26G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000469974|retained_intron|4/5|n.530+26G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000473802|retained_intron|2/4|n.235+26G>A|||||| 22 32193717 . G A . . ANN=A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|12/41|c.871+28G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|13/39|c.871+28G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|12/21|c.787+28G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400242|protein_coding|13/21|c.871+28G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|13/41|c.871+28G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|13/39|c.871+28G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|13/41|c.871+28G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|13/41|c.871+28G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|12/40|c.871+28G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|12/40|c.871+28G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000469974|retained_intron|4/5|n.530+28G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000473802|retained_intron|2/4|n.235+28G>A|||||| 22 32194530 . A G . . ANN=G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|12/41|c.872-38A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|13/39|c.872-38A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|12/21|c.788-38A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400242|protein_coding|13/21|c.872-38A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|13/41|c.872-38A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|13/39|c.872-38A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|13/41|c.872-38A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|13/41|c.872-38A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|12/40|c.872-38A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|12/40|c.872-38A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000469974|retained_intron|4/5|n.531-38A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000473802|retained_intron|2/4|n.236-38A>G|||||| 22 32194531 . T C . . ANN=C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|12/41|c.872-37T>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|13/39|c.872-37T>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|12/21|c.788-37T>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400242|protein_coding|13/21|c.872-37T>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|13/41|c.872-37T>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|13/39|c.872-37T>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|13/41|c.872-37T>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|13/41|c.872-37T>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|12/40|c.872-37T>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|12/40|c.872-37T>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000469974|retained_intron|4/5|n.531-37T>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000473802|retained_intron|2/4|n.236-37T>C|||||| 22 32194581 . A G . . ANN=G|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|13/42|c.885A>G|p.Gln295Gln|955/5363|885/4785|295/1594||,G|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|14/40|c.885A>G|p.Gln295Gln|963/4843|885/4512|295/1503||,G|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|13/22|c.801A>G|p.Gln267Gln|972/2300|801/1995|267/664||,G|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400242|protein_coding|14/22|c.885A>G|p.Gln295Gln|1041/2395|885/1680|295/559||,G|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|14/42|c.885A>G|p.Gln295Gln|1027/5405|885/4746|295/1581||,G|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|14/40|c.885A>G|p.Gln295Gln|1027/5128|885/3690|295/1229||,G|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|14/42|c.885A>G|p.Gln295Gln|1027/5410|885/4659|295/1552||,G|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|14/42|c.885A>G|p.Gln295Gln|1027/5378|885/4719|295/1572||,G|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|13/41|c.885A>G|p.Gln295Gln|945/5212|885/4659|295/1552||,G|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|13/41|c.885A>G|p.Gln295Gln|944/5307|885/4719|295/1572||,G|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000469974|retained_intron|5/6|n.544A>G||||||,G|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000473802|retained_intron|3/5|n.249A>G|||||| 22 32194666 . G A . . ANN=A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|13/41|c.946+24G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|14/39|c.946+24G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|13/21|c.862+24G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400242|protein_coding|14/21|c.946+24G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|14/41|c.946+24G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|14/39|c.946+24G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|14/41|c.946+24G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|14/41|c.946+24G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|13/40|c.946+24G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|13/40|c.946+24G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000469974|retained_intron|5/5|n.605+24G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000473802|retained_intron|3/4|n.310+24G>A|||||| 22 32194692 . A G . . ANN=G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|13/41|c.946+50A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|14/39|c.946+50A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|13/21|c.862+50A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400242|protein_coding|14/21|c.946+50A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|14/41|c.946+50A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|14/39|c.946+50A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|14/41|c.946+50A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|14/41|c.946+50A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|13/40|c.946+50A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|13/40|c.946+50A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000469974|retained_intron|5/5|n.605+50A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000473802|retained_intron|3/4|n.310+50A>G|||||| 22 32198857 . A G . . ANN=G|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000469974|retained_intron||n.*640A>G|||||133|,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|14/41|c.1081+33A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|15/39|c.1081+33A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|14/21|c.997+33A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400242|protein_coding|15/21|c.1081+33A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|15/41|c.1081+33A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|15/39|c.1081+33A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|15/41|c.1081+33A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|15/41|c.1081+33A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|14/40|c.1081+33A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|14/40|c.1081+33A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000473802|retained_intron|4/4|n.445+33A>G|||||| 22 32198862 . C T . . ANN=T|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000469974|retained_intron||n.*640C>T|||||138|,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|14/41|c.1081+38C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|15/39|c.1081+38C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|14/21|c.997+38C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400242|protein_coding|15/21|c.1081+38C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|15/41|c.1081+38C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|15/39|c.1081+38C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|15/41|c.1081+38C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|15/41|c.1081+38C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|14/40|c.1081+38C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|14/40|c.1081+38C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000473802|retained_intron|4/4|n.445+38C>T|||||| 22 32198868 . C A . . ANN=A|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000469974|retained_intron||n.*640C>A|||||144|,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|14/41|c.1081+44C>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|15/39|c.1081+44C>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|14/21|c.997+44C>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400242|protein_coding|15/21|c.1081+44C>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|15/41|c.1081+44C>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|15/39|c.1081+44C>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|15/41|c.1081+44C>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|15/41|c.1081+44C>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|14/40|c.1081+44C>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|14/40|c.1081+44C>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000473802|retained_intron|4/4|n.445+44C>A|||||| 22 32200112 . C G . . ANN=G|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000469974|retained_intron||n.*640C>G|||||1388|,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|14/41|c.1082-36C>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|15/39|c.1082-36C>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|14/21|c.998-36C>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400242|protein_coding|15/21|c.1082-36C>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|15/41|c.1082-36C>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|15/39|c.1082-36C>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|15/41|c.1082-36C>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|15/41|c.1082-36C>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|14/40|c.1082-36C>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|14/40|c.1082-36C>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000473802|retained_intron|4/4|n.446-36C>G|||||| 22 32200161 . T C . . ANN=C|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|15/42|c.1095T>C|p.Asp365Asp|1165/5363|1095/4785|365/1594||,C|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|16/40|c.1095T>C|p.Asp365Asp|1173/4843|1095/4512|365/1503||,C|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|15/22|c.1011T>C|p.Asp337Asp|1182/2300|1011/1995|337/664||,C|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400242|protein_coding|16/22|c.1095T>C|p.Asp365Asp|1251/2395|1095/1680|365/559||,C|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|16/42|c.1095T>C|p.Asp365Asp|1237/5405|1095/4746|365/1581||,C|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|16/40|c.1095T>C|p.Asp365Asp|1237/5128|1095/3690|365/1229||,C|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|16/42|c.1095T>C|p.Asp365Asp|1237/5410|1095/4659|365/1552||,C|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|16/42|c.1095T>C|p.Asp365Asp|1237/5378|1095/4719|365/1572||,C|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|15/41|c.1095T>C|p.Asp365Asp|1155/5212|1095/4659|365/1552||,C|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|15/41|c.1095T>C|p.Asp365Asp|1154/5307|1095/4719|365/1572||,C|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000469974|retained_intron||n.*640T>C|||||1437|,C|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000473802|retained_intron|5/5|n.459T>C|||||| 22 32200849 . C T . . ANN=T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|16/42|c.1165C>T|p.Arg389Cys|1235/5363|1165/4785|389/1594||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|17/40|c.1165C>T|p.Arg389Cys|1243/4843|1165/4512|389/1503||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|16/22|c.1081C>T|p.Arg361Cys|1252/2300|1081/1995|361/664||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400242|protein_coding|17/22|c.1165C>T|p.Arg389Cys|1321/2395|1165/1680|389/559||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|17/42|c.1165C>T|p.Arg389Cys|1307/5405|1165/4746|389/1581||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|17/40|c.1165C>T|p.Arg389Cys|1307/5128|1165/3690|389/1229||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|17/42|c.1165C>T|p.Arg389Cys|1307/5410|1165/4659|389/1552||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|17/42|c.1165C>T|p.Arg389Cys|1307/5378|1165/4719|389/1572||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|16/41|c.1165C>T|p.Arg389Cys|1225/5212|1165/4659|389/1552||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|16/41|c.1165C>T|p.Arg389Cys|1224/5307|1165/4719|389/1572||,T|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000469974|retained_intron||n.*640C>T|||||2125|,T|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000473802|retained_intron||n.*503C>T|||||644| 22 32202089 . CTGTT C . . ANN=|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000469974|retained_intron||n.*640_*640delTGTT|||||3366|,|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000473802|retained_intron||n.*503_*503delTGTT|||||1885|,|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|16/41|c.1218-13_1218-10delGTTT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|17/39|c.1218-13_1218-10delGTTT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|16/21|c.1134-13_1134-10delGTTT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400242|protein_coding|17/21|c.1218-13_1218-10delGTTT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|17/41|c.1218-13_1218-10delGTTT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|17/39|c.1218-13_1218-10delGTTT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|17/41|c.1218-13_1218-10delGTTT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|17/41|c.1218-13_1218-10delGTTT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|16/40|c.1218-13_1218-10delGTTT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|16/40|c.1218-13_1218-10delGTTT||||||INFO_REALIGN_3_PRIME 22 32205559 . G A . . ANN=A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|17/41|c.1288-38G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|18/39|c.1288-38G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|17/21|c.1204-38G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400242|protein_coding|18/21|c.1288-38G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|18/41|c.1288-38G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|18/39|c.1288-38G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|18/41|c.1288-38G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|18/41|c.1288-38G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|17/40|c.1288-38G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|17/40|c.1288-38G>A|||||| 22 32205630 . A G . . ANN=G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|18/42|c.1321A>G|p.Thr441Ala|1391/5363|1321/4785|441/1594||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|19/40|c.1321A>G|p.Thr441Ala|1399/4843|1321/4512|441/1503||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|18/22|c.1237A>G|p.Thr413Ala|1408/2300|1237/1995|413/664||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400242|protein_coding|19/22|c.1321A>G|p.Thr441Ala|1477/2395|1321/1680|441/559||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|19/42|c.1321A>G|p.Thr441Ala|1463/5405|1321/4746|441/1581||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|19/40|c.1321A>G|p.Thr441Ala|1463/5128|1321/3690|441/1229||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|19/42|c.1321A>G|p.Thr441Ala|1463/5410|1321/4659|441/1552||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|19/42|c.1321A>G|p.Thr441Ala|1463/5378|1321/4719|441/1572||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|18/41|c.1321A>G|p.Thr441Ala|1381/5212|1321/4659|441/1552||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|18/41|c.1321A>G|p.Thr441Ala|1380/5307|1321/4719|441/1572|| 22 32205632 . A C . . ANN=C|splice_region_variant&synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|18/42|c.1323A>C|p.Thr441Thr|1393/5363|1323/4785|441/1594||,C|splice_region_variant&synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|19/40|c.1323A>C|p.Thr441Thr|1401/4843|1323/4512|441/1503||,C|splice_region_variant&synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|18/22|c.1239A>C|p.Thr413Thr|1410/2300|1239/1995|413/664||,C|splice_region_variant&synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400242|protein_coding|19/22|c.1323A>C|p.Thr441Thr|1479/2395|1323/1680|441/559||,C|splice_region_variant&synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|19/42|c.1323A>C|p.Thr441Thr|1465/5405|1323/4746|441/1581||,C|splice_region_variant&synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|19/40|c.1323A>C|p.Thr441Thr|1465/5128|1323/3690|441/1229||,C|splice_region_variant&synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|19/42|c.1323A>C|p.Thr441Thr|1465/5410|1323/4659|441/1552||,C|splice_region_variant&synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|19/42|c.1323A>C|p.Thr441Thr|1465/5378|1323/4719|441/1572||,C|splice_region_variant&synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|18/41|c.1323A>C|p.Thr441Thr|1383/5212|1323/4659|441/1552||,C|splice_region_variant&synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|18/41|c.1323A>C|p.Thr441Thr|1382/5307|1323/4719|441/1572|| 22 32206512 . G A . . ANN=A|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|19/42|c.1330G>A|p.Gly444Arg|1400/5363|1330/4785|444/1594||,A|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|20/40|c.1330G>A|p.Gly444Arg|1408/4843|1330/4512|444/1503||,A|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|19/22|c.1246G>A|p.Gly416Arg|1417/2300|1246/1995|416/664||,A|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400242|protein_coding|20/22|c.1330G>A|p.Gly444Arg|1486/2395|1330/1680|444/559||,A|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|20/42|c.1330G>A|p.Gly444Arg|1472/5405|1330/4746|444/1581||,A|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|20/40|c.1330G>A|p.Gly444Arg|1472/5128|1330/3690|444/1229||,A|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|20/42|c.1330G>A|p.Gly444Arg|1472/5410|1330/4659|444/1552||,A|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|20/42|c.1330G>A|p.Gly444Arg|1472/5378|1330/4719|444/1572||,A|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|19/41|c.1330G>A|p.Gly444Arg|1390/5212|1330/4659|444/1552||,A|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|19/41|c.1330G>A|p.Gly444Arg|1389/5307|1330/4719|444/1572|| 22 32211004 . G C . . ANN=C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|20/42|c.1472G>C|p.Ser491Thr|1542/5363|1472/4785|491/1594||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|21/40|c.1472G>C|p.Ser491Thr|1550/4843|1472/4512|491/1503||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|20/22|c.1388G>C|p.Ser463Thr|1559/2300|1388/1995|463/664||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400242|protein_coding|21/22|c.1472G>C|p.Ser491Thr|1628/2395|1472/1680|491/559||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|21/42|c.1472G>C|p.Ser491Thr|1614/5405|1472/4746|491/1581||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|21/40|c.1472G>C|p.Ser491Thr|1614/5128|1472/3690|491/1229||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|21/42|c.1472G>C|p.Ser491Thr|1614/5410|1472/4659|491/1552||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|21/42|c.1472G>C|p.Ser491Thr|1614/5378|1472/4719|491/1572||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|20/41|c.1472G>C|p.Ser491Thr|1532/5212|1472/4659|491/1552||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|20/41|c.1472G>C|p.Ser491Thr|1531/5307|1472/4719|491/1572||,C|upstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay||n.-1G>C|||||4048|,C|upstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding||c.-2G>C|||||4146|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|CTA-440B3.1|ENSG00000236132|transcript|ENST00000429025|processed_pseudogene||n.*477C>G|||||1361| 22 32211098 . C T . . ANN=T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|20/42|c.1566C>T|p.Asp522Asp|1636/5363|1566/4785|522/1594||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|21/40|c.1566C>T|p.Asp522Asp|1644/4843|1566/4512|522/1503||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|20/22|c.1482C>T|p.Asp494Asp|1653/2300|1482/1995|494/664||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400242|protein_coding|21/22|c.1566C>T|p.Asp522Asp|1722/2395|1566/1680|522/559||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|21/42|c.1566C>T|p.Asp522Asp|1708/5405|1566/4746|522/1581||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|21/40|c.1566C>T|p.Asp522Asp|1708/5128|1566/3690|522/1229||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|21/42|c.1566C>T|p.Asp522Asp|1708/5410|1566/4659|522/1552||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|21/42|c.1566C>T|p.Asp522Asp|1708/5378|1566/4719|522/1572||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|20/41|c.1566C>T|p.Asp522Asp|1626/5212|1566/4659|522/1552||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|20/41|c.1566C>T|p.Asp522Asp|1625/5307|1566/4719|522/1572||,T|upstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay||n.-1C>T|||||3954|,T|upstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding||c.-2C>T|||||4052|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|CTA-440B3.1|ENSG00000236132|transcript|ENST00000429025|processed_pseudogene||n.*477G>A|||||1267| 22 32217457 . A G . . ANN=G|upstream_gene_variant|MODIFIER|CTA-440B3.1|ENSG00000236132|transcript|ENST00000429025|processed_pseudogene||n.-1T>C|||||3980|,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|21/41|c.1871-31A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|22/39|c.1870+2246A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|21/21|c.1786+2246A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|22/41|c.1871-31A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|22/39|c.1870+2246A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|22/41|c.1871-31A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|22/41|c.1871-31A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|21/40|c.1871-31A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|21/40|c.1871-31A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|1/18|n.160+2246A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|1/20|c.62-31A>G||||||WARNING_TRANSCRIPT_NO_START_CODON 22 32217539 . C T . . ANN=T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|22/42|c.1922C>T|p.Ala641Val|1992/5363|1922/4785|641/1594||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|23/42|c.1922C>T|p.Ala641Val|2064/5405|1922/4746|641/1581||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|23/42|c.1922C>T|p.Ala641Val|2064/5410|1922/4659|641/1552||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|23/42|c.1922C>T|p.Ala641Val|2064/5378|1922/4719|641/1572||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|22/41|c.1922C>T|p.Ala641Val|1982/5212|1922/4659|641/1552||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|22/41|c.1922C>T|p.Ala641Val|1981/5307|1922/4719|641/1572||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|2/21|c.113C>T|p.Ala38Val|114/3450|113/2937|38/978||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|CTA-440B3.1|ENSG00000236132|transcript|ENST00000429025|processed_pseudogene||n.-1G>A|||||4062|,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|22/39|c.1870+2328C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|21/21|c.1786+2328C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|22/39|c.1870+2328C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|1/18|n.160+2328C>T|||||| 22 32217608 . A G . . ANN=G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|22/42|c.1991A>G|p.His664Arg|2061/5363|1991/4785|664/1594||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|23/42|c.1991A>G|p.His664Arg|2133/5405|1991/4746|664/1581||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|23/42|c.1991A>G|p.His664Arg|2133/5410|1991/4659|664/1552||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|23/42|c.1991A>G|p.His664Arg|2133/5378|1991/4719|664/1572||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|22/41|c.1991A>G|p.His664Arg|2051/5212|1991/4659|664/1552||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|22/41|c.1991A>G|p.His664Arg|2050/5307|1991/4719|664/1572||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|2/21|c.182A>G|p.His61Arg|183/3450|182/2937|61/978||WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|CTA-440B3.1|ENSG00000236132|transcript|ENST00000429025|processed_pseudogene||n.-1T>C|||||4131|,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|22/39|c.1870+2397A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|21/21|c.1786+2397A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|22/39|c.1870+2397A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|1/18|n.160+2397A>G|||||| 22 32217655 . C T . . ANN=T|upstream_gene_variant|MODIFIER|CTA-440B3.1|ENSG00000236132|transcript|ENST00000429025|processed_pseudogene||n.-1G>A|||||4178|,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|22/41|c.2006+32C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|22/39|c.1870+2444C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|21/21|c.1786+2444C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|23/41|c.2006+32C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|22/39|c.1870+2444C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|23/41|c.2006+32C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|23/41|c.2006+32C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|22/40|c.2006+32C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|22/40|c.2006+32C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|1/18|n.160+2444C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|2/20|c.197+32C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 32218692 . C T . . ANN=T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|23/42|c.2020C>T|p.Arg674Cys|2090/5363|2020/4785|674/1594||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|24/42|c.2020C>T|p.Arg674Cys|2162/5405|2020/4746|674/1581||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|24/42|c.2020C>T|p.Arg674Cys|2162/5410|2020/4659|674/1552||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|24/42|c.2020C>T|p.Arg674Cys|2162/5378|2020/4719|674/1572||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|23/41|c.2020C>T|p.Arg674Cys|2080/5212|2020/4659|674/1552||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|23/41|c.2020C>T|p.Arg674Cys|2079/5307|2020/4719|674/1572||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|3/21|c.211C>T|p.Arg71Cys|212/3450|211/2937|71/978||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|22/39|c.1870+3481C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|21/21|c.1786+3481C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|22/39|c.1870+3481C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|1/18|n.160+3481C>T|||||| 22 32218727 . C A . . ANN=A|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|23/42|c.2055C>A|p.Phe685Leu|2125/5363|2055/4785|685/1594||,A|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|24/42|c.2055C>A|p.Phe685Leu|2197/5405|2055/4746|685/1581||,A|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|24/42|c.2055C>A|p.Phe685Leu|2197/5410|2055/4659|685/1552||,A|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|24/42|c.2055C>A|p.Phe685Leu|2197/5378|2055/4719|685/1572||,A|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|23/41|c.2055C>A|p.Phe685Leu|2115/5212|2055/4659|685/1552||,A|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|23/41|c.2055C>A|p.Phe685Leu|2114/5307|2055/4719|685/1572||,A|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|3/21|c.246C>A|p.Phe82Leu|247/3450|246/2937|82/978||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|22/39|c.1870+3516C>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|21/21|c.1786+3516C>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|22/39|c.1870+3516C>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|1/18|n.160+3516C>A|||||| 22 32218744 . T C . . ANN=C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|23/42|c.2072T>C|p.Leu691Pro|2142/5363|2072/4785|691/1594||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|24/42|c.2072T>C|p.Leu691Pro|2214/5405|2072/4746|691/1581||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|24/42|c.2072T>C|p.Leu691Pro|2214/5410|2072/4659|691/1552||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|24/42|c.2072T>C|p.Leu691Pro|2214/5378|2072/4719|691/1572||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|23/41|c.2072T>C|p.Leu691Pro|2132/5212|2072/4659|691/1552||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|23/41|c.2072T>C|p.Leu691Pro|2131/5307|2072/4719|691/1572||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|3/21|c.263T>C|p.Leu88Pro|264/3450|263/2937|88/978||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|22/39|c.1870+3533T>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|21/21|c.1786+3533T>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|22/39|c.1870+3533T>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|1/18|n.160+3533T>C|||||| 22 32218747 . C T . . ANN=T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|23/42|c.2075C>T|p.Ser692Phe|2145/5363|2075/4785|692/1594||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|24/42|c.2075C>T|p.Ser692Phe|2217/5405|2075/4746|692/1581||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|24/42|c.2075C>T|p.Ser692Phe|2217/5410|2075/4659|692/1552||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|24/42|c.2075C>T|p.Ser692Phe|2217/5378|2075/4719|692/1572||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|23/41|c.2075C>T|p.Ser692Phe|2135/5212|2075/4659|692/1552||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|23/41|c.2075C>T|p.Ser692Phe|2134/5307|2075/4719|692/1572||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|3/21|c.266C>T|p.Ser89Phe|267/3450|266/2937|89/978||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|22/39|c.1870+3536C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|21/21|c.1786+3536C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|22/39|c.1870+3536C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|1/18|n.160+3536C>T|||||| 22 32229931 . C T . . ANN=T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|24/42|c.2135C>T|p.Ser712Phe|2205/5363|2135/4785|712/1594||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|23/40|c.1901C>T|p.Ser634Phe|1979/4843|1901/4512|634/1503||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|22/22|c.1817C>T|p.Ser606Phe|1988/2300|1817/1995|606/664||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|25/42|c.2135C>T|p.Ser712Phe|2277/5405|2135/4746|712/1581||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|23/40|c.1901C>T|p.Ser634Phe|2043/5128|1901/3690|634/1229||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|25/42|c.2135C>T|p.Ser712Phe|2277/5410|2135/4659|712/1552||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|25/42|c.2135C>T|p.Ser712Phe|2277/5378|2135/4719|712/1572||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|24/41|c.2135C>T|p.Ser712Phe|2195/5212|2135/4659|712/1552||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|24/41|c.2135C>T|p.Ser712Phe|2194/5307|2135/4719|712/1572||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|4/21|c.326C>T|p.Ser109Phe|327/3450|326/2937|109/978||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|RNU6-201P|ENSG00000252909|transcript|ENST00000517100|snRNA||n.-1C>T|||||3293|,T|upstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000490731|retained_intron||n.-1C>T|||||2903|,T|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|2/19|n.191C>T||||||,T|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000462414|processed_transcript|1/3|n.97C>T||||||,T|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000471914|retained_intron|1/5|n.80C>T||||||,T|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000494065|retained_intron|1/2|n.28C>T|||||| 22 32229935 . A G . . ANN=G|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|24/42|c.2139A>G|p.Leu713Leu|2209/5363|2139/4785|713/1594||,G|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|23/40|c.1905A>G|p.Leu635Leu|1983/4843|1905/4512|635/1503||,G|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|22/22|c.1821A>G|p.Leu607Leu|1992/2300|1821/1995|607/664||,G|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|25/42|c.2139A>G|p.Leu713Leu|2281/5405|2139/4746|713/1581||,G|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|23/40|c.1905A>G|p.Leu635Leu|2047/5128|1905/3690|635/1229||,G|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|25/42|c.2139A>G|p.Leu713Leu|2281/5410|2139/4659|713/1552||,G|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|25/42|c.2139A>G|p.Leu713Leu|2281/5378|2139/4719|713/1572||,G|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|24/41|c.2139A>G|p.Leu713Leu|2199/5212|2139/4659|713/1552||,G|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|24/41|c.2139A>G|p.Leu713Leu|2198/5307|2139/4719|713/1572||,G|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|4/21|c.330A>G|p.Leu110Leu|331/3450|330/2937|110/978||WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|RNU6-201P|ENSG00000252909|transcript|ENST00000517100|snRNA||n.-1A>G|||||3289|,G|upstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000490731|retained_intron||n.-1A>G|||||2899|,G|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|2/19|n.195A>G||||||,G|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000462414|processed_transcript|1/3|n.101A>G||||||,G|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000471914|retained_intron|1/5|n.84A>G||||||,G|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000494065|retained_intron|1/2|n.32A>G|||||| 22 32229977 . G A . . ANN=A|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|22/22|c.1863G>A|p.Gly621Gly|2034/2300|1863/1995|621/664||,A|upstream_gene_variant|MODIFIER|RNU6-201P|ENSG00000252909|transcript|ENST00000517100|snRNA||n.-1G>A|||||3247|,A|upstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000490731|retained_intron||n.-1G>A|||||2857|,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|24/41|c.2170+11G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|23/39|c.1936+11G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|25/41|c.2170+11G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|23/39|c.1936+11G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|25/41|c.2170+11G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|25/41|c.2170+11G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|24/40|c.2170+11G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|24/40|c.2170+11G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|2/18|n.226+11G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|4/20|c.361+11G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000462414|processed_transcript|1/2|n.132+11G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000471914|retained_intron|1/4|n.115+11G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000494065|retained_intron|1/1|n.63+11G>A|||||| 22 32232941 . C T . . ANN=T|upstream_gene_variant|MODIFIER|RNU6-201P|ENSG00000252909|transcript|ENST00000517100|snRNA||n.-1C>T|||||283|,T|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding||c.*2166C>T|||||2698|,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|24/41|c.2171-44C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|23/39|c.1937-17C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|25/41|c.2171-17C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|23/39|c.1937-17C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|25/41|c.2171-17C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|25/41|c.2171-44C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|24/40|c.2171-17C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|24/40|c.2171-44C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|2/18|n.227-17C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|4/20|c.362-17C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000462414|processed_transcript|1/2|n.133-139C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000471914|retained_intron|1/4|n.116-44C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000494065|retained_intron|1/1|n.64-17C>T||||||,T|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000490731|retained_intron|1/4|n.108C>T|||||| 22 32232979 . C T . . ANN=T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|24/40|c.1958C>T|p.Pro653Leu|2036/4843|1958/4512|653/1503||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|26/42|c.2192C>T|p.Pro731Leu|2334/5405|2192/4746|731/1581||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|24/40|c.1958C>T|p.Pro653Leu|2100/5128|1958/3690|653/1229||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|26/42|c.2192C>T|p.Pro731Leu|2334/5410|2192/4659|731/1552||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|25/41|c.2192C>T|p.Pro731Leu|2252/5212|2192/4659|731/1552||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|5/21|c.383C>T|p.Pro128Leu|384/3450|383/2937|128/978||WARNING_TRANSCRIPT_NO_START_CODON,T|splice_region_variant&intron_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|24/41|c.2171-6C>T||||||,T|splice_region_variant&intron_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|25/41|c.2171-6C>T||||||,T|splice_region_variant&intron_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|24/40|c.2171-6C>T||||||,T|splice_region_variant&intron_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000471914|retained_intron|1/4|n.116-6C>T||||||,T|upstream_gene_variant|MODIFIER|RNU6-201P|ENSG00000252909|transcript|ENST00000517100|snRNA||n.-1C>T|||||245|,T|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding||c.*2166C>T|||||2736|,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000462414|processed_transcript|1/2|n.133-101C>T||||||,T|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|3/19|n.248C>T||||||,T|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000494065|retained_intron|2/2|n.85C>T||||||,T|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000490731|retained_intron|1/4|n.146C>T|||||| 22 32233028 . C G . . ANN=G|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|25/42|c.2214C>G|p.Leu738Leu|2284/5363|2214/4785|738/1594||,G|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|24/40|c.2007C>G|p.Leu669Leu|2085/4843|2007/4512|669/1503||,G|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|26/42|c.2241C>G|p.Leu747Leu|2383/5405|2241/4746|747/1581||,G|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|24/40|c.2007C>G|p.Leu669Leu|2149/5128|2007/3690|669/1229||,G|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|26/42|c.2241C>G|p.Leu747Leu|2383/5410|2241/4659|747/1552||,G|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|26/42|c.2214C>G|p.Leu738Leu|2356/5378|2214/4719|738/1572||,G|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|25/41|c.2241C>G|p.Leu747Leu|2301/5212|2241/4659|747/1552||,G|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|25/41|c.2214C>G|p.Leu738Leu|2273/5307|2214/4719|738/1572||,G|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|5/21|c.432C>G|p.Leu144Leu|433/3450|432/2937|144/978||WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|RNU6-201P|ENSG00000252909|transcript|ENST00000517100|snRNA||n.-1C>G|||||196|,G|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding||c.*2166C>G|||||2785|,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000462414|processed_transcript|1/2|n.133-52C>G||||||,G|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|3/19|n.297C>G||||||,G|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000471914|retained_intron|2/5|n.159C>G||||||,G|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000494065|retained_intron|2/2|n.134C>G||||||,G|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000490731|retained_intron|1/4|n.195C>G|||||| 22 32233073 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000462414|processed_transcript|1/2|n.133-7C>T||||||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|25/42|c.2259C>T|p.Asp753Asp|2329/5363|2259/4785|753/1594||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|24/40|c.2052C>T|p.Asp684Asp|2130/4843|2052/4512|684/1503||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|26/42|c.2286C>T|p.Asp762Asp|2428/5405|2286/4746|762/1581||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|24/40|c.2052C>T|p.Asp684Asp|2194/5128|2052/3690|684/1229||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|26/42|c.2286C>T|p.Asp762Asp|2428/5410|2286/4659|762/1552||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|26/42|c.2259C>T|p.Asp753Asp|2401/5378|2259/4719|753/1572||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|25/41|c.2286C>T|p.Asp762Asp|2346/5212|2286/4659|762/1552||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|25/41|c.2259C>T|p.Asp753Asp|2318/5307|2259/4719|753/1572||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|5/21|c.477C>T|p.Asp159Asp|478/3450|477/2937|159/978||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|RNU6-201P|ENSG00000252909|transcript|ENST00000517100|snRNA||n.-1C>T|||||151|,T|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding||c.*2166C>T|||||2830|,T|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|3/19|n.342C>T||||||,T|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000471914|retained_intron|2/5|n.204C>T||||||,T|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000494065|retained_intron|2/2|n.179C>T||||||,T|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000490731|retained_intron|1/4|n.240C>T|||||| 22 32233189 . G A . . ANN=A|upstream_gene_variant|MODIFIER|RNU6-201P|ENSG00000252909|transcript|ENST00000517100|snRNA||n.-1G>A|||||35|,A|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding||c.*2166G>A|||||2946|,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|25/41|c.2327+48G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|24/39|c.2120+48G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|26/41|c.2354+48G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|24/39|c.2120+48G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|26/41|c.2354+48G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|26/41|c.2327+48G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|25/40|c.2354+48G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|25/40|c.2327+48G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|3/18|n.410+48G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|5/20|c.545+48G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000462414|processed_transcript|2/2|n.194+48G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000471914|retained_intron|2/4|n.272+48G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000490731|retained_intron|1/3|n.308+48G>A||||||,A|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000494065|retained_intron|2/2|n.295G>A|||||| 22 32234728 . C T . . ANN=T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|26/42|c.2385C>T|p.Cys795Cys|2455/5363|2385/4785|795/1594||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|25/40|c.2178C>T|p.Cys726Cys|2256/4843|2178/4512|726/1503||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|27/42|c.2412C>T|p.Cys804Cys|2554/5405|2412/4746|804/1581||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|25/40|c.2178C>T|p.Cys726Cys|2320/5128|2178/3690|726/1229||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|27/42|c.2412C>T|p.Cys804Cys|2554/5410|2412/4659|804/1552||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|27/42|c.2385C>T|p.Cys795Cys|2527/5378|2385/4719|795/1572||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|26/41|c.2412C>T|p.Cys804Cys|2472/5212|2412/4659|804/1552||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|26/41|c.2385C>T|p.Cys795Cys|2444/5307|2385/4719|795/1572||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|6/21|c.603C>T|p.Cys201Cys|604/3450|603/2937|201/978||WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|RNU6-201P|ENSG00000252909|transcript|ENST00000517100|snRNA||n.*61C>T|||||1444|,T|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding||c.*2166C>T|||||4485|,T|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000462414|processed_transcript||n.*231C>T|||||21|,T|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000494065|retained_intron||n.*414C>T|||||1420|,T|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|4/19|n.468C>T||||||,T|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000471914|retained_intron|3/5|n.330C>T||||||,T|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000490731|retained_intron|2/4|n.366C>T|||||| 22 32234797 . G A . . ANN=A|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|26/42|c.2454G>A|p.Pro818Pro|2524/5363|2454/4785|818/1594||,A|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|25/40|c.2247G>A|p.Pro749Pro|2325/4843|2247/4512|749/1503||,A|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|27/42|c.2481G>A|p.Pro827Pro|2623/5405|2481/4746|827/1581||,A|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|25/40|c.2247G>A|p.Pro749Pro|2389/5128|2247/3690|749/1229||,A|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|27/42|c.2481G>A|p.Pro827Pro|2623/5410|2481/4659|827/1552||,A|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|27/42|c.2454G>A|p.Pro818Pro|2596/5378|2454/4719|818/1572||,A|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|26/41|c.2481G>A|p.Pro827Pro|2541/5212|2481/4659|827/1552||,A|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|26/41|c.2454G>A|p.Pro818Pro|2513/5307|2454/4719|818/1572||,A|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|6/21|c.672G>A|p.Pro224Pro|673/3450|672/2937|224/978||WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|RNU6-201P|ENSG00000252909|transcript|ENST00000517100|snRNA||n.*61G>A|||||1513|,A|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding||c.*2166G>A|||||4554|,A|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000462414|processed_transcript||n.*231G>A|||||90|,A|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000494065|retained_intron||n.*414G>A|||||1489|,A|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|4/19|n.537G>A||||||,A|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000471914|retained_intron|3/5|n.399G>A||||||,A|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000490731|retained_intron|2/4|n.435G>A|||||| 22 32234798 . C T . . ANN=T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|26/42|c.2455C>T|p.Pro819Ser|2525/5363|2455/4785|819/1594||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|25/40|c.2248C>T|p.Pro750Ser|2326/4843|2248/4512|750/1503||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|27/42|c.2482C>T|p.Pro828Ser|2624/5405|2482/4746|828/1581||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|25/40|c.2248C>T|p.Pro750Ser|2390/5128|2248/3690|750/1229||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|27/42|c.2482C>T|p.Pro828Ser|2624/5410|2482/4659|828/1552||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|27/42|c.2455C>T|p.Pro819Ser|2597/5378|2455/4719|819/1572||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|26/41|c.2482C>T|p.Pro828Ser|2542/5212|2482/4659|828/1552||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|26/41|c.2455C>T|p.Pro819Ser|2514/5307|2455/4719|819/1572||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|6/21|c.673C>T|p.Pro225Ser|674/3450|673/2937|225/978||WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|RNU6-201P|ENSG00000252909|transcript|ENST00000517100|snRNA||n.*61C>T|||||1514|,T|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding||c.*2166C>T|||||4555|,T|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000462414|processed_transcript||n.*231C>T|||||91|,T|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000494065|retained_intron||n.*414C>T|||||1490|,T|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|4/19|n.538C>T||||||,T|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000471914|retained_intron|3/5|n.400C>T||||||,T|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000490731|retained_intron|2/4|n.436C>T|||||| 22 32239103 . T G . . ANN=G|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|27/42|c.2511T>G|p.Pro837Pro|2581/5363|2511/4785|837/1594||,G|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|26/40|c.2304T>G|p.Pro768Pro|2382/4843|2304/4512|768/1503||,G|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|28/42|c.2538T>G|p.Pro846Pro|2680/5405|2538/4746|846/1581||,G|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|26/40|c.2304T>G|p.Pro768Pro|2446/5128|2304/3690|768/1229||,G|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|28/42|c.2538T>G|p.Pro846Pro|2680/5410|2538/4659|846/1552||,G|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|28/42|c.2511T>G|p.Pro837Pro|2653/5378|2511/4719|837/1572||,G|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|27/41|c.2538T>G|p.Pro846Pro|2598/5212|2538/4659|846/1552||,G|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|27/41|c.2511T>G|p.Pro837Pro|2570/5307|2511/4719|837/1572||,G|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|7/21|c.729T>G|p.Pro243Pro|730/3450|729/2937|243/978||WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000494060|processed_transcript||n.-1T>G|||||3822|,G|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000462414|processed_transcript||n.*231T>G|||||4396|,G|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|5/19|n.594T>G||||||,G|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000471914|retained_intron|4/5|n.456T>G||||||,G|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000490731|retained_intron|3/4|n.492T>G|||||| 22 32239669 . G C . . ANN=C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|28/42|c.2645G>C|p.Ser882Thr|2715/5363|2645/4785|882/1594||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|27/40|c.2438G>C|p.Ser813Thr|2516/4843|2438/4512|813/1503||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|29/42|c.2672G>C|p.Ser891Thr|2814/5405|2672/4746|891/1581||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|27/40|c.2438G>C|p.Ser813Thr|2580/5128|2438/3690|813/1229||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|29/42|c.2672G>C|p.Ser891Thr|2814/5410|2672/4659|891/1552||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|29/42|c.2645G>C|p.Ser882Thr|2787/5378|2645/4719|882/1572||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|28/41|c.2672G>C|p.Ser891Thr|2732/5212|2672/4659|891/1552||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|28/41|c.2645G>C|p.Ser882Thr|2704/5307|2645/4719|882/1572||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|8/21|c.863G>C|p.Ser288Thr|864/3450|863/2937|288/978||WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000494060|processed_transcript||n.-1G>C|||||3256|,C|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000462414|processed_transcript||n.*231G>C|||||4962|,C|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000471914|retained_intron||n.*569G>C|||||21|,C|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000490731|retained_intron||n.*602G>C|||||24|,C|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|6/19|n.728G>C|||||| 22 32239739 . G A . . ANN=A|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|28/42|c.2715G>A|p.Glu905Glu|2785/5363|2715/4785|905/1594||,A|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|27/40|c.2508G>A|p.Glu836Glu|2586/4843|2508/4512|836/1503||,A|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|29/42|c.2742G>A|p.Glu914Glu|2884/5405|2742/4746|914/1581||,A|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|27/40|c.2508G>A|p.Glu836Glu|2650/5128|2508/3690|836/1229||,A|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|29/42|c.2742G>A|p.Glu914Glu|2884/5410|2742/4659|914/1552||,A|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|29/42|c.2715G>A|p.Glu905Glu|2857/5378|2715/4719|905/1572||,A|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|28/41|c.2742G>A|p.Glu914Glu|2802/5212|2742/4659|914/1552||,A|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|28/41|c.2715G>A|p.Glu905Glu|2774/5307|2715/4719|905/1572||,A|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|8/21|c.933G>A|p.Glu311Glu|934/3450|933/2937|311/978||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000494060|processed_transcript||n.-1G>A|||||3186|,A|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000471914|retained_intron||n.*569G>A|||||91|,A|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000490731|retained_intron||n.*602G>A|||||94|,A|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|6/19|n.798G>A|||||| 22 32240955 . A G . . ANN=G|upstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000494060|processed_transcript||n.-1A>G|||||1970|,G|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000471914|retained_intron||n.*569A>G|||||1307|,G|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000490731|retained_intron||n.*602A>G|||||1310|,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|28/41|c.2775-49A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|27/39|c.2568-49A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|29/41|c.2802-49A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|27/39|c.2568-49A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|29/41|c.2802-49A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|29/41|c.2775-49A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|28/40|c.2802-49A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|28/40|c.2775-49A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|6/18|n.858-49A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|8/20|c.993-49A>G||||||WARNING_TRANSCRIPT_NO_START_CODON 22 32241046 . G C . . ANN=C|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|29/42|c.2817G>C|p.Leu939Leu|2887/5363|2817/4785|939/1594||,C|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|28/40|c.2610G>C|p.Leu870Leu|2688/4843|2610/4512|870/1503||,C|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|30/42|c.2844G>C|p.Leu948Leu|2986/5405|2844/4746|948/1581||,C|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|28/40|c.2610G>C|p.Leu870Leu|2752/5128|2610/3690|870/1229||,C|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|30/42|c.2844G>C|p.Leu948Leu|2986/5410|2844/4659|948/1552||,C|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|30/42|c.2817G>C|p.Leu939Leu|2959/5378|2817/4719|939/1572||,C|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|29/41|c.2844G>C|p.Leu948Leu|2904/5212|2844/4659|948/1552||,C|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|29/41|c.2817G>C|p.Leu939Leu|2876/5307|2817/4719|939/1572||,C|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|9/21|c.1035G>C|p.Leu345Leu|1036/3450|1035/2937|345/978||WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000494060|processed_transcript||n.-1G>C|||||1879|,C|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000471914|retained_intron||n.*569G>C|||||1398|,C|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000490731|retained_intron||n.*602G>C|||||1401|,C|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|7/19|n.900G>C|||||| 22 32241058 . T C . . ANN=C|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|29/42|c.2829T>C|p.Cys943Cys|2899/5363|2829/4785|943/1594||,C|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|28/40|c.2622T>C|p.Cys874Cys|2700/4843|2622/4512|874/1503||,C|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|30/42|c.2856T>C|p.Cys952Cys|2998/5405|2856/4746|952/1581||,C|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|28/40|c.2622T>C|p.Cys874Cys|2764/5128|2622/3690|874/1229||,C|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|30/42|c.2856T>C|p.Cys952Cys|2998/5410|2856/4659|952/1552||,C|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|30/42|c.2829T>C|p.Cys943Cys|2971/5378|2829/4719|943/1572||,C|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|29/41|c.2856T>C|p.Cys952Cys|2916/5212|2856/4659|952/1552||,C|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|29/41|c.2829T>C|p.Cys943Cys|2888/5307|2829/4719|943/1572||,C|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|9/21|c.1047T>C|p.Cys349Cys|1048/3450|1047/2937|349/978||WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000494060|processed_transcript||n.-1T>C|||||1867|,C|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000471914|retained_intron||n.*569T>C|||||1410|,C|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000490731|retained_intron||n.*602T>C|||||1413|,C|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|7/19|n.912T>C|||||| 22 32241252 . G A . . ANN=A|upstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000494060|processed_transcript||n.-1G>A|||||1673|,A|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000471914|retained_intron||n.*569G>A|||||1604|,A|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000490731|retained_intron||n.*602G>A|||||1607|,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|29/41|c.2994+29G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|28/39|c.2787+29G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|30/41|c.3021+29G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|28/39|c.2787+29G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|30/41|c.3021+29G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|30/41|c.2994+29G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|29/40|c.3021+29G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|29/40|c.2994+29G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|7/18|n.1077+29G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|9/20|c.1212+29G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 32242806 . C T . . ANN=T|upstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000494060|processed_transcript||n.-1C>T|||||119|,T|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000471914|retained_intron||n.*569C>T|||||3158|,T|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000490731|retained_intron||n.*602C>T|||||3161|,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|29/41|c.2995-14C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|28/39|c.2788-14C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|30/41|c.3022-14C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|28/39|c.2788-14C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|30/41|c.3022-14C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|30/41|c.2995-14C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|29/40|c.3022-14C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|29/40|c.2995-14C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|7/18|n.1078-14C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|9/20|c.1213-14C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 32242867 . G A . . ANN=A|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|30/42|c.3042G>A|p.Thr1014Thr|3112/5363|3042/4785|1014/1594||,A|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|29/40|c.2835G>A|p.Thr945Thr|2913/4843|2835/4512|945/1503||,A|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|31/42|c.3069G>A|p.Thr1023Thr|3211/5405|3069/4746|1023/1581||,A|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|29/40|c.2835G>A|p.Thr945Thr|2977/5128|2835/3690|945/1229||,A|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|31/42|c.3069G>A|p.Thr1023Thr|3211/5410|3069/4659|1023/1552||,A|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|31/42|c.3042G>A|p.Thr1014Thr|3184/5378|3042/4719|1014/1572||,A|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|30/41|c.3069G>A|p.Thr1023Thr|3129/5212|3069/4659|1023/1552||,A|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|30/41|c.3042G>A|p.Thr1014Thr|3101/5307|3042/4719|1014/1572||,A|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|10/21|c.1260G>A|p.Thr420Thr|1261/3450|1260/2937|420/978||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000494060|processed_transcript||n.-1G>A|||||58|,A|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000471914|retained_intron||n.*569G>A|||||3219|,A|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000490731|retained_intron||n.*602G>A|||||3222|,A|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|8/19|n.1125G>A|||||| 22 32253516 . A C . . ANN=C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|31/42|c.3214A>C|p.Thr1072Pro|3284/5363|3214/4785|1072/1594||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|30/40|c.3007A>C|p.Thr1003Pro|3085/4843|3007/4512|1003/1503||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|32/42|c.3241A>C|p.Thr1081Pro|3383/5405|3241/4746|1081/1581||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|30/40|c.3007A>C|p.Thr1003Pro|3149/5128|3007/3690|1003/1229||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|32/42|c.3241A>C|p.Thr1081Pro|3383/5410|3241/4659|1081/1552||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|32/42|c.3214A>C|p.Thr1072Pro|3356/5378|3214/4719|1072/1572||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|31/41|c.3241A>C|p.Thr1081Pro|3301/5212|3241/4659|1081/1552||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|31/41|c.3214A>C|p.Thr1072Pro|3273/5307|3214/4719|1072/1572||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|11/21|c.1432A>C|p.Thr478Pro|1433/3450|1432/2937|478/978||WARNING_TRANSCRIPT_NO_START_CODON,C|5_prime_UTR_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000539165|protein_coding|2/12|c.-326A>C|||||15789|,C|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|9/19|n.1297A>C||||||,C|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000494060|processed_transcript|2/6|n.115A>C|||||| 22 32266546 . A T . . ANN=T|upstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000479261|retained_intron||n.-1A>T|||||3414|,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|32/41|c.3304-30A>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|30/39|c.3031-30A>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|32/41|c.3265-30A>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|31/39|c.3097-30A>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|33/41|c.3331-30A>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|32/41|c.3238-30A>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|32/40|c.3331-30A>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|31/40|c.3238-30A>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|10/18|n.1387-30A>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|11/20|c.1456-30A>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000494060|processed_transcript|2/5|n.139-30A>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000539165|protein_coding|2/11|c.-302-30A>T|||||| 22 32266603 . A G . . ANN=G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|33/42|c.3331A>G|p.Met1111Val|3401/5363|3331/4785|1111/1594||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|31/40|c.3058A>G|p.Met1020Val|3136/4843|3058/4512|1020/1503||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|33/42|c.3292A>G|p.Met1098Val|3434/5405|3292/4746|1098/1581||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|32/40|c.3124A>G|p.Met1042Val|3266/5128|3124/3690|1042/1229||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|34/42|c.3358A>G|p.Met1120Val|3500/5410|3358/4659|1120/1552||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|33/42|c.3265A>G|p.Met1089Val|3407/5378|3265/4719|1089/1572||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|33/41|c.3358A>G|p.Met1120Val|3418/5212|3358/4659|1120/1552||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|32/41|c.3265A>G|p.Met1089Val|3324/5307|3265/4719|1089/1572||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|12/21|c.1483A>G|p.Met495Val|1484/3450|1483/2937|495/978||WARNING_TRANSCRIPT_NO_START_CODON,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000539165|protein_coding|3/12|c.-275A>G||||||,G|5_prime_UTR_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000539165|protein_coding|3/12|c.-275A>G|||||2702|,G|upstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000479261|retained_intron||n.-1A>G|||||3357|,G|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|11/19|n.1414A>G||||||,G|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000494060|processed_transcript|3/6|n.166A>G|||||| 22 32270221 . C A . . ANN=A|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000382112|protein_coding|35/42|c.3537-38C>A||||||,A|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000382112|protein_coding|34/42|c.3537-38C>A||||||,A|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000382112|protein_coding|36/42|c.3537-38C>A||||||,A|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000535622|protein_coding|33/40|c.3264-38C>A||||||,A|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000535622|protein_coding|32/40|c.3264-38C>A||||||,A|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000535622|protein_coding|34/40|c.3264-38C>A||||||,A|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000266091|protein_coding|35/42|c.3498-38C>A||||||,A|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000266091|protein_coding|34/42|c.3498-38C>A||||||,A|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000266091|protein_coding|36/42|c.3498-38C>A||||||,A|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000382111|protein_coding|35/41|c.3564-38C>A||||||,A|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000382111|protein_coding|34/41|c.3564-38C>A||||||,A|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000382111|protein_coding|36/41|c.3564-38C>A||||||,A|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000400248|protein_coding|34/41|c.3471-38C>A||||||,A|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000400248|protein_coding|33/41|c.3471-38C>A||||||,A|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000400248|protein_coding|35/41|c.3471-38C>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|34/41|c.3537-38C>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|32/39|c.3264-38C>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|34/41|c.3498-38C>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|33/39|c.3330-38C>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|35/41|c.3564-38C>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|34/41|c.3471-38C>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|34/40|c.3564-38C>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|33/40|c.3471-38C>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|12/18|n.1620-38C>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|13/20|c.1689-38C>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000494060|processed_transcript|4/5|n.372-38C>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000539165|protein_coding|4/11|c.15-38C>A||||||,A|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000479261|retained_intron|1/3|n.262C>A|||||| 22 32270378 . T C . . ANN=C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|35/42|c.3656T>C|p.Ile1219Thr|3726/5363|3656/4785|1219/1594||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|33/40|c.3383T>C|p.Ile1128Thr|3461/4843|3383/4512|1128/1503||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|35/42|c.3617T>C|p.Ile1206Thr|3759/5405|3617/4746|1206/1581||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|34/40|c.3449T>C|p.Ile1150Thr|3591/5128|3449/3690|1150/1229||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|36/42|c.3683T>C|p.Ile1228Thr|3825/5410|3683/4659|1228/1552||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|35/42|c.3590T>C|p.Ile1197Thr|3732/5378|3590/4719|1197/1572||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|35/41|c.3683T>C|p.Ile1228Thr|3743/5212|3683/4659|1228/1552||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|34/41|c.3590T>C|p.Ile1197Thr|3649/5307|3590/4719|1197/1572||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|14/21|c.1808T>C|p.Ile603Thr|1809/3450|1808/2937|603/978||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000539165|protein_coding|5/12|c.134T>C|p.Ile45Thr|622/2052|134/1263|45/420||,C|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000382112|protein_coding|35/42|c.3656T>C||||||,C|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000382112|protein_coding|34/42|c.3656T>C||||||,C|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000382112|protein_coding|36/42|c.3656T>C||||||,C|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000535622|protein_coding|33/40|c.3383T>C||||||,C|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000535622|protein_coding|32/40|c.3383T>C||||||,C|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000535622|protein_coding|34/40|c.3383T>C||||||,C|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000266091|protein_coding|35/42|c.3617T>C||||||,C|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000266091|protein_coding|34/42|c.3617T>C||||||,C|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000266091|protein_coding|36/42|c.3617T>C||||||,C|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000382111|protein_coding|35/41|c.3683T>C||||||,C|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000382111|protein_coding|34/41|c.3683T>C||||||,C|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000382111|protein_coding|36/41|c.3683T>C||||||,C|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000400248|protein_coding|34/41|c.3590T>C||||||,C|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000400248|protein_coding|33/41|c.3590T>C||||||,C|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000400248|protein_coding|35/41|c.3590T>C||||||,C|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|13/19|n.1739T>C||||||,C|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000494060|processed_transcript|5/6|n.491T>C||||||,C|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000479261|retained_intron|1/3|n.419T>C|||||| 22 32270409 . G A . . ANN=A|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000382112|protein_coding|35/42|c.3669+18G>A||||||,A|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000382112|protein_coding|34/42|c.3669+18G>A||||||,A|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000382112|protein_coding|36/42|c.3669+18G>A||||||,A|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000535622|protein_coding|33/40|c.3396+18G>A||||||,A|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000535622|protein_coding|32/40|c.3396+18G>A||||||,A|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000535622|protein_coding|34/40|c.3396+18G>A||||||,A|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000266091|protein_coding|35/42|c.3630+18G>A||||||,A|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000266091|protein_coding|34/42|c.3630+18G>A||||||,A|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000266091|protein_coding|36/42|c.3630+18G>A||||||,A|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000382111|protein_coding|35/41|c.3696+18G>A||||||,A|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000382111|protein_coding|34/41|c.3696+18G>A||||||,A|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000382111|protein_coding|36/41|c.3696+18G>A||||||,A|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000400248|protein_coding|34/41|c.3603+18G>A||||||,A|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000400248|protein_coding|33/41|c.3603+18G>A||||||,A|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000400248|protein_coding|35/41|c.3603+18G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|35/41|c.3669+18G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|33/39|c.3396+18G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|35/41|c.3630+18G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|34/39|c.3462+18G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|36/41|c.3696+18G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|35/41|c.3603+18G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|35/40|c.3696+18G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|34/40|c.3603+18G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|13/18|n.1752+18G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|14/20|c.1821+18G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000494060|processed_transcript|5/5|n.504+18G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000539165|protein_coding|5/11|c.147+18G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000479261|retained_intron|1/2|n.432+18G>A|||||| 22 32272130 . A G . . ANN=G|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000382112|protein_coding|35/42|c.3670-13A>G||||||,G|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000382112|protein_coding|34/42|c.3670-13A>G||||||,G|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000382112|protein_coding|36/42|c.3670-13A>G||||||,G|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000535622|protein_coding|33/40|c.3397-13A>G||||||,G|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000535622|protein_coding|32/40|c.3397-13A>G||||||,G|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000535622|protein_coding|34/40|c.3397-13A>G||||||,G|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000266091|protein_coding|35/42|c.3631-13A>G||||||,G|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000266091|protein_coding|34/42|c.3631-13A>G||||||,G|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000266091|protein_coding|36/42|c.3631-13A>G||||||,G|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000382111|protein_coding|35/41|c.3697-13A>G||||||,G|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000382111|protein_coding|34/41|c.3697-13A>G||||||,G|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000382111|protein_coding|36/41|c.3697-13A>G||||||,G|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000400248|protein_coding|34/41|c.3604-13A>G||||||,G|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000400248|protein_coding|33/41|c.3604-13A>G||||||,G|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000400248|protein_coding|35/41|c.3604-13A>G||||||,G|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000494060|processed_transcript||n.*750A>G|||||701|,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|35/41|c.3670-13A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|33/39|c.3397-13A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|35/41|c.3631-13A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|34/39|c.3462+1739A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|36/41|c.3697-13A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|35/41|c.3604-13A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|35/40|c.3697-13A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|34/40|c.3604-13A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|13/18|n.1752+1739A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|14/20|c.1822-13A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000539165|protein_coding|5/11|c.148-13A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000479261|retained_intron|1/2|n.433-13A>G|||||| 22 32272191 . C T . . ANN=T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|36/42|c.3718C>T|p.Arg1240Trp|3788/5363|3718/4785|1240/1594||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|34/40|c.3445C>T|p.Arg1149Trp|3523/4843|3445/4512|1149/1503||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|36/42|c.3679C>T|p.Arg1227Trp|3821/5405|3679/4746|1227/1581||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|37/42|c.3745C>T|p.Arg1249Trp|3887/5410|3745/4659|1249/1552||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|36/42|c.3652C>T|p.Arg1218Trp|3794/5378|3652/4719|1218/1572||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|36/41|c.3745C>T|p.Arg1249Trp|3805/5212|3745/4659|1249/1552||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|35/41|c.3652C>T|p.Arg1218Trp|3711/5307|3652/4719|1218/1572||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|15/21|c.1870C>T|p.Arg624Trp|1871/3450|1870/2937|624/978||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000539165|protein_coding|6/12|c.196C>T|p.Arg66Trp|684/2052|196/1263|66/420||,T|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000382112|protein_coding|35/42|c.3718C>T||||||,T|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000382112|protein_coding|34/42|c.3718C>T||||||,T|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000382112|protein_coding|36/42|c.3718C>T||||||,T|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000535622|protein_coding|33/40|c.3445C>T||||||,T|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000535622|protein_coding|32/40|c.3445C>T||||||,T|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000535622|protein_coding|34/40|c.3445C>T||||||,T|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000266091|protein_coding|35/42|c.3679C>T||||||,T|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000266091|protein_coding|34/42|c.3679C>T||||||,T|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000266091|protein_coding|36/42|c.3679C>T||||||,T|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000382111|protein_coding|35/41|c.3745C>T||||||,T|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000382111|protein_coding|34/41|c.3745C>T||||||,T|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000382111|protein_coding|36/41|c.3745C>T||||||,T|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000400248|protein_coding|34/41|c.3652C>T||||||,T|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000400248|protein_coding|33/41|c.3652C>T||||||,T|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000400248|protein_coding|35/41|c.3652C>T||||||,T|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000494060|processed_transcript||n.*750C>T|||||762|,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|34/39|c.3462+1800C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|13/18|n.1752+1800C>T||||||,T|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000479261|retained_intron|2/3|n.481C>T|||||| 22 32272261 . G A . . ANN=A|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000494060|processed_transcript||n.*750G>A|||||832|,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|36/41|c.3778+10G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|34/39|c.3505+10G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|36/41|c.3739+10G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|34/39|c.3462+1870G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|37/41|c.3805+10G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|36/41|c.3712+10G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|36/40|c.3805+10G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|35/40|c.3712+10G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|13/18|n.1752+1870G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|15/20|c.1930+10G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000539165|protein_coding|6/11|c.256+10G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000479261|retained_intron|2/2|n.541+10G>A|||||| 22 32272266 . G A . . ANN=A|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000494060|processed_transcript||n.*750G>A|||||837|,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|36/41|c.3778+15G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|34/39|c.3505+15G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|36/41|c.3739+15G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|34/39|c.3462+1875G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|37/41|c.3805+15G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|36/41|c.3712+15G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|36/40|c.3805+15G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|35/40|c.3712+15G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|13/18|n.1752+1875G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|15/20|c.1930+15G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000539165|protein_coding|6/11|c.256+15G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000479261|retained_intron|2/2|n.541+15G>A|||||| 22 32275515 . C T . . ANN=T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|35/40|c.3467C>T|p.Pro1156Leu|3609/5128|3467/3690|1156/1229||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|37/42|c.3783C>T|p.Ala1261Ala|3853/5363|3783/4785|1261/1594||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|35/40|c.3510C>T|p.Ala1170Ala|3588/4843|3510/4512|1170/1503||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|37/42|c.3744C>T|p.Ala1248Ala|3886/5405|3744/4746|1248/1581||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|38/42|c.3810C>T|p.Ala1270Ala|3952/5410|3810/4659|1270/1552||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|37/42|c.3717C>T|p.Ala1239Ala|3859/5378|3717/4719|1239/1572||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|37/41|c.3810C>T|p.Ala1270Ala|3870/5212|3810/4659|1270/1552||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|36/41|c.3717C>T|p.Ala1239Ala|3776/5307|3717/4719|1239/1572||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|16/21|c.1935C>T|p.Ala645Ala|1936/3450|1935/2937|645/978||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000539165|protein_coding|7/12|c.261C>T|p.Ala87Ala|749/2052|261/1263|87/420||,T|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000494060|processed_transcript||n.*750C>T|||||4086|,T|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|14/19|n.1757C>T||||||,T|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000479261|retained_intron|3/3|n.546C>T|||||| 22 32275576 . C T . . ANN=T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|37/42|c.3844C>T|p.Arg1282Cys|3914/5363|3844/4785|1282/1594||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|35/40|c.3571C>T|p.Arg1191Cys|3649/4843|3571/4512|1191/1503||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|37/42|c.3805C>T|p.Arg1269Cys|3947/5405|3805/4746|1269/1581||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|38/42|c.3871C>T|p.Arg1291Cys|4013/5410|3871/4659|1291/1552||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|37/42|c.3778C>T|p.Arg1260Cys|3920/5378|3778/4719|1260/1572||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|37/41|c.3871C>T|p.Arg1291Cys|3931/5212|3871/4659|1291/1552||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|36/41|c.3778C>T|p.Arg1260Cys|3837/5307|3778/4719|1260/1572||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|16/21|c.1996C>T|p.Arg666Cys|1997/3450|1996/2937|666/978||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000539165|protein_coding|7/12|c.322C>T|p.Arg108Cys|810/2052|322/1263|108/420||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|35/40|c.3528C>T|p.Ser1176Ser|3670/5128|3528/3690|1176/1229||,T|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000494060|processed_transcript||n.*750C>T|||||4147|,T|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|14/19|n.1818C>T||||||,T|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000479261|retained_intron|3/3|n.607C>T|||||| 22 32289659 . T C . . ANN=C|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|38/42|c.4098T>C|p.His1366His|4168/5363|4098/4785|1366/1594||,C|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|36/40|c.3825T>C|p.His1275His|3903/4843|3825/4512|1275/1503||,C|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|38/42|c.4059T>C|p.His1353His|4201/5405|4059/4746|1353/1581||,C|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|39/42|c.4125T>C|p.His1375His|4267/5410|4125/4659|1375/1552||,C|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|38/42|c.4032T>C|p.His1344His|4174/5378|4032/4719|1344/1572||,C|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|38/41|c.4125T>C|p.His1375His|4185/5212|4125/4659|1375/1552||,C|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|37/41|c.4032T>C|p.His1344His|4091/5307|4032/4719|1344/1572||,C|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|17/21|c.2250T>C|p.His750His|2251/3450|2250/2937|750/978||WARNING_TRANSCRIPT_NO_START_CODON,C|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000539165|protein_coding|8/12|c.576T>C|p.His192His|1064/2052|576/1263|192/420||,C|3_prime_UTR_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|36/40|c.*92T>C|||||13921|,C|3_prime_UTR_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|15/19|n.*92T>C|||||13921|,C|upstream_gene_variant|MODIFIER|RP1-180M12.1|ENSG00000227813|transcript|ENST00000454534|processed_pseudogene||n.-1A>G|||||2239|,C|upstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000497340|processed_transcript||n.-1T>C|||||3962|,C|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|15/19|n.*92T>C|||||| 22 32289784 . T A . . ANN=A|upstream_gene_variant|MODIFIER|RP1-180M12.1|ENSG00000227813|transcript|ENST00000454534|processed_pseudogene||n.-1A>T|||||2364|,A|upstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000497340|processed_transcript||n.-1T>A|||||3837|,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|38/41|c.4176+47T>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|36/39|c.3903+47T>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|38/41|c.4137+47T>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|36/39|c.*170+47T>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|39/41|c.4203+47T>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|38/41|c.4110+47T>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|38/40|c.4203+47T>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|37/40|c.4110+47T>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|15/18|n.*170+47T>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|17/20|c.2328+47T>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000539165|protein_coding|8/11|c.654+47T>A|||||| 22 32297691 . G A . . ANN=A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|39/41|c.4349-37G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|37/39|c.4076-37G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|39/41|c.4310-37G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|37/39|c.*343-37G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|40/41|c.4375+4052G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|39/41|c.4283-37G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|39/40|c.4375+4052G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|38/40|c.4283-37G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|16/18|n.*343-37G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|18/20|c.2501-37G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000539165|protein_coding|9/11|c.827-37G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000497340|processed_transcript|1/2|n.20-37G>A|||||| 22 32297743 . C T . . ANN=T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|40/42|c.4364C>T|p.Thr1455Met|4434/5363|4364/4785|1455/1594||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|38/40|c.4091C>T|p.Thr1364Met|4169/4843|4091/4512|1364/1503||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|40/42|c.4325C>T|p.Thr1442Met|4467/5405|4325/4746|1442/1581||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|40/42|c.4298C>T|p.Thr1433Met|4440/5378|4298/4719|1433/1572||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|39/41|c.4298C>T|p.Thr1433Met|4357/5307|4298/4719|1433/1572||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|19/21|c.2516C>T|p.Thr839Met|2517/3450|2516/2937|839/978||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000539165|protein_coding|10/12|c.842C>T|p.Thr281Met|1330/2052|842/1263|281/420||,T|3_prime_UTR_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|38/40|c.*358C>T|||||22005|,T|3_prime_UTR_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|17/19|n.*358C>T|||||22005|,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|40/41|c.4375+4104C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|39/40|c.4375+4104C>T||||||,T|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|17/19|n.*358C>T||||||,T|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000497340|processed_transcript|2/3|n.35C>T|||||| 22 32297765 . C A . . ANN=A|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|40/42|c.4386C>A|p.Leu1462Leu|4456/5363|4386/4785|1462/1594||,A|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|38/40|c.4113C>A|p.Leu1371Leu|4191/4843|4113/4512|1371/1503||,A|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|40/42|c.4347C>A|p.Leu1449Leu|4489/5405|4347/4746|1449/1581||,A|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|40/42|c.4320C>A|p.Leu1440Leu|4462/5378|4320/4719|1440/1572||,A|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|39/41|c.4320C>A|p.Leu1440Leu|4379/5307|4320/4719|1440/1572||,A|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|19/21|c.2538C>A|p.Leu846Leu|2539/3450|2538/2937|846/978||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000539165|protein_coding|10/12|c.864C>A|p.Leu288Leu|1352/2052|864/1263|288/420||,A|3_prime_UTR_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|38/40|c.*380C>A|||||22027|,A|3_prime_UTR_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|17/19|n.*380C>A|||||22027|,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|40/41|c.4375+4126C>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|39/40|c.4375+4126C>A||||||,A|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|17/19|n.*380C>A||||||,A|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000497340|processed_transcript|2/3|n.57C>A|||||| 22 32302045 . C T . . ANN=T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|41/42|c.4451C>T|p.Thr1484Met|4593/5410|4451/4659|1484/1552||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|40/41|c.4451C>T|p.Thr1484Met|4511/5212|4451/4659|1484/1552||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|41/42|c.4485C>T|p.His1495His|4555/5363|4485/4785|1495/1594||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|39/40|c.4212C>T|p.His1404His|4290/4843|4212/4512|1404/1503||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|41/42|c.4446C>T|p.His1482His|4588/5405|4446/4746|1482/1581||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|41/42|c.4419C>T|p.His1473His|4561/5378|4419/4719|1473/1572||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|40/41|c.4419C>T|p.His1473His|4478/5307|4419/4719|1473/1572||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|20/21|c.2637C>T|p.His879His|2638/3450|2637/2937|879/978||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000539165|protein_coding|11/12|c.963C>T|p.His321His|1451/2052|963/1263|321/420||,T|3_prime_UTR_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|39/40|c.*479C>T|||||26307|,T|3_prime_UTR_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|18/19|n.*479C>T|||||26307|,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000497340|processed_transcript|2/2|n.81-746C>T||||||,T|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|18/19|n.*479C>T|||||| 22 32302065 . G A . . ANN=A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|41/41|c.4492+13G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|39/39|c.4219+13G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|41/41|c.4453+13G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|39/39|c.*486+13G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|41/41|c.4458+13G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|41/41|c.4426+13G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|40/40|c.4458+13G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|40/40|c.4426+13G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|18/18|n.*486+13G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|20/20|c.2644+13G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000539165|protein_coding|11/11|c.970+13G>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000497340|processed_transcript|2/2|n.81-726G>A|||||| 22 32302094 . C T . . ANN=T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|41/41|c.4492+42C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|39/39|c.4219+42C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|41/41|c.4453+42C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|39/39|c.*486+42C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|41/41|c.4458+42C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|41/41|c.4426+42C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|40/40|c.4458+42C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|40/40|c.4426+42C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|18/18|n.*486+42C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|20/20|c.2644+42C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000539165|protein_coding|11/11|c.970+42C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000497340|processed_transcript|2/2|n.81-697C>T|||||| 22 32302487 . C CAGGCTGCACCAGGGTTAGA . . ANN=AGGGTTAGAAGGCTGCACC|3_prime_UTR_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|42/42|c.*14_*15insAGGGTTAGAAGGCTGCACC|||||15|INFO_REALIGN_3_PRIME,AGGGTTAGAAGGCTGCACC|3_prime_UTR_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|40/40|c.*14_*15insAGGGTTAGAAGGCTGCACC|||||15|INFO_REALIGN_3_PRIME,AGGGTTAGAAGGCTGCACC|3_prime_UTR_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|42/42|c.*14_*15insAGGGTTAGAAGGCTGCACC|||||15|INFO_REALIGN_3_PRIME,AGGGTTAGAAGGCTGCACC|3_prime_UTR_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|40/40|c.*793_*794insAGGGTTAGAAGGCTGCACC|||||26760|INFO_REALIGN_3_PRIME,AGGGTTAGAAGGCTGCACC|3_prime_UTR_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|42/42|c.*106_*107insAGGGTTAGAAGGCTGCACC|||||107|INFO_REALIGN_3_PRIME,AGGGTTAGAAGGCTGCACC|3_prime_UTR_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|42/42|c.*14_*15insAGGGTTAGAAGGCTGCACC|||||15|INFO_REALIGN_3_PRIME,AGGGTTAGAAGGCTGCACC|3_prime_UTR_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|41/41|c.*106_*107insAGGGTTAGAAGGCTGCACC|||||107|INFO_REALIGN_3_PRIME,AGGGTTAGAAGGCTGCACC|3_prime_UTR_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|41/41|c.*14_*15insAGGGTTAGAAGGCTGCACC|||||15|INFO_REALIGN_3_PRIME,AGGGTTAGAAGGCTGCACC|3_prime_UTR_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|19/19|n.*793_*794insAGGGTTAGAAGGCTGCACC|||||26760|INFO_REALIGN_3_PRIME,AGGGTTAGAAGGCTGCACC|3_prime_UTR_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|21/21|c.*14_*15insAGGGTTAGAAGGCTGCACC|||||15|WARNING_TRANSCRIPT_NO_START_CODON&INFO_REALIGN_3_PRIME,AGGGTTAGAAGGCTGCACC|3_prime_UTR_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000539165|protein_coding|12/12|c.*14_*15insAGGGTTAGAAGGCTGCACC|||||15|INFO_REALIGN_3_PRIME,AGGGTTAGAAGGCTGCACC|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000497340|processed_transcript|2/2|n.81-294_81-293insAGGGTTAGAAGGCTGCACC||||||INFO_REALIGN_3_PRIME,AGGGTTAGAAGGCTGCACC|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|19/19|n.*793_*794insAGGGTTAGAAGGCTGCACC||||||INFO_REALIGN_3_PRIME 22 32302512 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|42/42|c.*29G>A|||||29|,A|3_prime_UTR_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|40/40|c.*29G>A|||||29|,A|3_prime_UTR_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|42/42|c.*29G>A|||||29|,A|3_prime_UTR_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|40/40|c.*808G>A|||||26774|,A|3_prime_UTR_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|42/42|c.*121G>A|||||121|,A|3_prime_UTR_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|42/42|c.*29G>A|||||29|,A|3_prime_UTR_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|41/41|c.*121G>A|||||121|,A|3_prime_UTR_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|41/41|c.*29G>A|||||29|,A|3_prime_UTR_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|19/19|n.*808G>A|||||26774|,A|3_prime_UTR_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|21/21|c.*29G>A|||||29|WARNING_TRANSCRIPT_NO_START_CODON,A|3_prime_UTR_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000539165|protein_coding|12/12|c.*29G>A|||||29|,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000497340|processed_transcript|2/2|n.81-279G>A||||||,A|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|19/19|n.*808G>A|||||| 22 32330089 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|C22orf24|ENSG00000128254|transcript|ENST00000543051|protein_coding|2/2|c.*15G>A|||||15|,T|3_prime_UTR_variant|MODIFIER|C22orf24|ENSG00000128254|transcript|ENST00000248984|protein_coding|3/3|c.*15G>A|||||15|,T|downstream_gene_variant|MODIFIER|C22orf24|ENSG00000128254|transcript|ENST00000484682|retained_intron||n.*568G>A|||||245|,T|non_coding_exon_variant|MODIFIER|C22orf24|ENSG00000128254|transcript|ENST00000486651|processed_transcript|3/3|n.760G>A|||||| 22 32333967 . T G . . ANN=G|missense_variant|MODERATE|C22orf24|ENSG00000128254|transcript|ENST00000543051|protein_coding|1/2|c.287A>C|p.Asn96Thr|437/941|287/684|96/227||,G|missense_variant|MODERATE|C22orf24|ENSG00000128254|transcript|ENST00000248984|protein_coding|2/3|c.86A>C|p.Asn29Thr|253/1247|86/483|29/160||,G|splice_region_variant&intron_variant|LOW|C22orf24|ENSG00000128254|transcript|ENST00000486651|processed_transcript|2/2|n.413+8A>C||||||,G|splice_region_variant&intron_variant|LOW|C22orf24|ENSG00000128254|transcript|ENST00000484682|retained_intron|1/1|n.466+8A>C|||||| 22 32333988 . G C . . ANN=C|missense_variant|MODERATE|C22orf24|ENSG00000128254|transcript|ENST00000543051|protein_coding|1/2|c.266C>G|p.Pro89Arg|416/941|266/684|89/227||,C|missense_variant|MODERATE|C22orf24|ENSG00000128254|transcript|ENST00000248984|protein_coding|2/3|c.65C>G|p.Pro22Arg|232/1247|65/483|22/160||,C|non_coding_exon_variant|MODIFIER|C22orf24|ENSG00000128254|transcript|ENST00000486651|processed_transcript|2/3|n.400C>G||||||,C|non_coding_exon_variant|MODIFIER|C22orf24|ENSG00000128254|transcript|ENST00000484682|retained_intron|1/2|n.453C>G|||||| 22 32334021 . T A . . ANN=A|missense_variant|MODERATE|C22orf24|ENSG00000128254|transcript|ENST00000543051|protein_coding|1/2|c.233A>T|p.His78Leu|383/941|233/684|78/227||,A|missense_variant|MODERATE|C22orf24|ENSG00000128254|transcript|ENST00000248984|protein_coding|2/3|c.32A>T|p.His11Leu|199/1247|32/483|11/160||,A|non_coding_exon_variant|MODIFIER|C22orf24|ENSG00000128254|transcript|ENST00000486651|processed_transcript|2/3|n.367A>T||||||,A|non_coding_exon_variant|MODIFIER|C22orf24|ENSG00000128254|transcript|ENST00000484682|retained_intron|1/2|n.420A>T|||||| 22 32334058 . T C . . ANN=C|missense_variant|MODERATE|C22orf24|ENSG00000128254|transcript|ENST00000543051|protein_coding|1/2|c.196A>G|p.Asn66Asp|346/941|196/684|66/227||,C|5_prime_UTR_variant|MODIFIER|C22orf24|ENSG00000128254|transcript|ENST00000248984|protein_coding|2/3|c.-6A>G|||||6|,C|non_coding_exon_variant|MODIFIER|C22orf24|ENSG00000128254|transcript|ENST00000486651|processed_transcript|2/3|n.330A>G||||||,C|non_coding_exon_variant|MODIFIER|C22orf24|ENSG00000128254|transcript|ENST00000484682|retained_intron|1/2|n.383A>G|||||| 22 32334059 . G A . . ANN=A|synonymous_variant|LOW|C22orf24|ENSG00000128254|transcript|ENST00000543051|protein_coding|1/2|c.195C>T|p.Asp65Asp|345/941|195/684|65/227||,A|5_prime_UTR_variant|MODIFIER|C22orf24|ENSG00000128254|transcript|ENST00000248984|protein_coding|2/3|c.-7C>T|||||7|,A|non_coding_exon_variant|MODIFIER|C22orf24|ENSG00000128254|transcript|ENST00000486651|processed_transcript|2/3|n.329C>T||||||,A|non_coding_exon_variant|MODIFIER|C22orf24|ENSG00000128254|transcript|ENST00000484682|retained_intron|1/2|n.382C>T|||||| 22 32340837 . CG C . . ANN=|TF_binding_site_variant|LOW|||Ap2alpha|MA0003.1|||||||||,|sequence_feature|LOW|YWHAH|ENSG00000128245|helix|ENST00000248975|protein_coding|2/2|c.87+32delG||||||,|sequence_feature|LOW|YWHAH|ENSG00000128245|helix|ENST00000248975|protein_coding|1/2|c.87+32delG||||||,|upstream_gene_variant|MODIFIER|YWHAH|ENSG00000128245|transcript|ENST00000471374|processed_transcript||n.-1delG|||||114|,|upstream_gene_variant|MODIFIER|YWHAH|ENSG00000128245|transcript|ENST00000420430|protein_coding||c.-17delG|||||2571|WARNING_TRANSCRIPT_NO_STOP_CODON,|intron_variant|MODIFIER|YWHAH|ENSG00000128245|transcript|ENST00000248975|protein_coding|1/1|c.87+39delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|C22orf24|ENSG00000128254|transcript|ENST00000248984|protein_coding|1/2|c.-50+381delC||||||,|intron_variant|MODIFIER|C22orf24|ENSG00000128254|transcript|ENST00000486651|processed_transcript|1/2|n.286+381delC||||||,|intron_variant|MODIFIER|YWHAH|ENSG00000128245|transcript|ENST00000443669|nonsense_mediated_decay|1/2|n.87+39delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|YWHAH|ENSG00000128245|transcript|ENST00000397492|protein_coding|1/2|c.87+39delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|YWHAH|ENSG00000128245|transcript|ENST00000479649|processed_transcript|1/2|n.74+39delG||||||INFO_REALIGN_3_PRIME 22 32352215 . C G . . ANN=G|sequence_feature|MODERATE|YWHAH|ENSG00000128245|amino_acid_modification:Phosphoserine|ENST00000248975|protein_coding|2/2|c.177C>G||||||,G|synonymous_variant|LOW|YWHAH|ENSG00000128245|transcript|ENST00000248975|protein_coding|2/2|c.177C>G|p.Ser59Ser|450/1825|177/741|59/246||,G|synonymous_variant|LOW|YWHAH|ENSG00000128245|transcript|ENST00000420430|protein_coding|2/2|c.138C>G|p.Ser46Ser|154/502|138/486|46/161||WARNING_TRANSCRIPT_NO_STOP_CODON,G|sequence_feature|LOW|YWHAH|ENSG00000128245|helix|ENST00000248975|protein_coding|2/2|c.177C>G||||||,G|3_prime_UTR_variant|MODIFIER|YWHAH|ENSG00000128245|transcript|ENST00000443669|nonsense_mediated_decay|3/3|n.*236C>G|||||10697|,G|3_prime_UTR_variant|MODIFIER|YWHAH|ENSG00000128245|transcript|ENST00000397492|protein_coding|3/3|c.*73C>G|||||73|,G|downstream_gene_variant|MODIFIER|snoU13|ENSG00000238910|transcript|ENST00000459049|snoRNA||n.*103C>G|||||2722|,G|non_coding_exon_variant|MODIFIER|YWHAH|ENSG00000128245|transcript|ENST00000443669|nonsense_mediated_decay|3/3|n.*236C>G||||||,G|non_coding_exon_variant|MODIFIER|YWHAH|ENSG00000128245|transcript|ENST00000479649|processed_transcript|3/3|n.286C>G||||||,G|non_coding_exon_variant|MODIFIER|YWHAH|ENSG00000128245|transcript|ENST00000471374|processed_transcript|2/2|n.360C>G|||||| 22 32352698 . G A . . ANN=A|synonymous_variant|LOW|YWHAH|ENSG00000128245|transcript|ENST00000248975|protein_coding|2/2|c.660G>A|p.Thr220Thr|933/1825|660/741|220/246||,A|sequence_feature|LOW|YWHAH|ENSG00000128245|helix|ENST00000248975|protein_coding|2/2|c.660G>A||||||,A|3_prime_UTR_variant|MODIFIER|YWHAH|ENSG00000128245|transcript|ENST00000397492|protein_coding|3/3|c.*556G>A|||||556|,A|downstream_gene_variant|MODIFIER|snoU13|ENSG00000238910|transcript|ENST00000459049|snoRNA||n.*103G>A|||||3205|,A|downstream_gene_variant|MODIFIER|YWHAH|ENSG00000128245|transcript|ENST00000443669|nonsense_mediated_decay||n.*332G>A|||||229|,A|downstream_gene_variant|MODIFIER|YWHAH|ENSG00000128245|transcript|ENST00000479649|processed_transcript||n.*662G>A|||||107|,A|downstream_gene_variant|MODIFIER|YWHAH|ENSG00000128245|transcript|ENST00000420430|protein_coding||c.*502G>A|||||135|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|YWHAH|ENSG00000128245|transcript|ENST00000471374|processed_transcript|2/2|n.843G>A|||||| 22 32352791 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|YWHAH|ENSG00000128245|transcript|ENST00000248975|protein_coding|2/2|c.*12G>A|||||12|,A|3_prime_UTR_variant|MODIFIER|YWHAH|ENSG00000128245|transcript|ENST00000397492|protein_coding|3/3|c.*649G>A|||||649|,A|downstream_gene_variant|MODIFIER|snoU13|ENSG00000238910|transcript|ENST00000459049|snoRNA||n.*103G>A|||||3298|,A|downstream_gene_variant|MODIFIER|YWHAH|ENSG00000128245|transcript|ENST00000443669|nonsense_mediated_decay||n.*332G>A|||||322|,A|downstream_gene_variant|MODIFIER|YWHAH|ENSG00000128245|transcript|ENST00000479649|processed_transcript||n.*662G>A|||||200|,A|downstream_gene_variant|MODIFIER|YWHAH|ENSG00000128245|transcript|ENST00000420430|protein_coding||c.*502G>A|||||228|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|YWHAH|ENSG00000128245|transcript|ENST00000471374|processed_transcript|2/2|n.936G>A|||||| 22 32439256 . C CA . . ANN=A|5_prime_UTR_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000266088|protein_coding|1/15|c.-11dupA|||||10|INFO_REALIGN_3_PRIME,A|downstream_gene_variant|MODIFIER|SC22CB-1E7.1|ENSG00000232346|transcript|ENST00000423610|processed_pseudogene||n.*407_*407insA|||||3374| 22 32439269 . A G . . ANN=G|start_lost|HIGH|SLC5A1|ENSG00000100170|transcript|ENST00000266088|protein_coding|1/15|c.1A>G|p.Met1?|251/5061|1/1995|1/664||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000266088|protein_coding|1/15|c.1A>G||||||,G|downstream_gene_variant|MODIFIER|SC22CB-1E7.1|ENSG00000232346|transcript|ENST00000423610|processed_pseudogene||n.*407A>G|||||3386|,G|TF_binding_site_variant|MODIFIER|||Nrsf|MA0138.2|||||||||;LOF=(SLC5A1|ENSG00000100170|4|0.25) 22 32439274 . C T . . ANN=T|synonymous_variant|LOW|SLC5A1|ENSG00000100170|transcript|ENST00000266088|protein_coding|1/15|c.6C>T|p.Asp2Asp|256/5061|6/1995|2/664||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000266088|protein_coding|1/15|c.6C>T||||||,T|downstream_gene_variant|MODIFIER|SC22CB-1E7.1|ENSG00000232346|transcript|ENST00000423610|processed_pseudogene||n.*407C>T|||||3391|,T|TF_binding_site_variant|MODIFIER|||Nrsf|MA0138.2||||||||| 22 32439303 . C T . . ANN=T|missense_variant|MODERATE|SLC5A1|ENSG00000100170|transcript|ENST00000266088|protein_coding|1/15|c.35C>T|p.Ala12Val|285/5061|35/1995|12/664||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000266088|protein_coding|1/15|c.35C>T||||||,T|downstream_gene_variant|MODIFIER|SC22CB-1E7.1|ENSG00000232346|transcript|ENST00000423610|processed_pseudogene||n.*407C>T|||||3420| 22 32439318 . T C . . ANN=C|missense_variant|MODERATE|SLC5A1|ENSG00000100170|transcript|ENST00000266088|protein_coding|1/15|c.50T>C|p.Val17Ala|300/5061|50/1995|17/664||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000266088|protein_coding|1/15|c.50T>C||||||,C|downstream_gene_variant|MODIFIER|SC22CB-1E7.1|ENSG00000232346|transcript|ENST00000423610|processed_pseudogene||n.*407T>C|||||3435| 22 32439365 . G A . . ANN=A|missense_variant|MODERATE|SLC5A1|ENSG00000100170|transcript|ENST00000266088|protein_coding|1/15|c.97G>A|p.Val33Ile|347/5061|97/1995|33/664||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:Transmembrane_region|ENST00000266088|protein_coding|2/15|c.97G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:Transmembrane_region|ENST00000266088|protein_coding|1/15|c.97G>A||||||,A|downstream_gene_variant|MODIFIER|SC22CB-1E7.1|ENSG00000232346|transcript|ENST00000423610|processed_pseudogene||n.*407G>A|||||3482| 22 32445893 . T C . . ANN=C|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:Transmembrane_region|ENST00000266088|protein_coding|2/15|c.136-37T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:Transmembrane_region|ENST00000266088|protein_coding|1/15|c.136-37T>C||||||,C|intron_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000266088|protein_coding|1/14|c.136-37T>C|||||| 22 32445900 . C T . . ANN=T|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:Transmembrane_region|ENST00000266088|protein_coding|2/15|c.136-30C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:Transmembrane_region|ENST00000266088|protein_coding|1/15|c.136-30C>T||||||,T|intron_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000266088|protein_coding|1/14|c.136-30C>T|||||| 22 32445946 . A G . . ANN=G|missense_variant|MODERATE|SLC5A1|ENSG00000100170|transcript|ENST00000266088|protein_coding|2/15|c.152A>G|p.Asn51Ser|402/5061|152/1995|51/664||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Cytoplasmic|ENST00000266088|protein_coding|2/15|c.152A>G|||||| 22 32462909 . T A . . ANN=A|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:Transmembrane_region|ENST00000266088|protein_coding|3/15|c.208-13T>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:Transmembrane_region|ENST00000266088|protein_coding|2/15|c.208-13T>A||||||,A|intron_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000266088|protein_coding|2/14|c.208-13T>A||||||,A|intron_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000543737|protein_coding|1/13|c.-174-13T>A|||||| 22 32462914 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|SLC5A1|ENSG00000100170|transcript|ENST00000266088|protein_coding|2/14|c.208-8G>A||||||,A|splice_region_variant&intron_variant|LOW|SLC5A1|ENSG00000100170|transcript|ENST00000543737|protein_coding|1/13|c.-174-8G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:Transmembrane_region|ENST00000266088|protein_coding|3/15|c.208-8G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:Transmembrane_region|ENST00000266088|protein_coding|2/15|c.208-8G>A|||||| 22 32463051 . C T . . ANN=T|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000266088|protein_coding|3/15|c.312+25C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000266088|protein_coding|4/15|c.312+25C>T||||||,T|intron_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000266088|protein_coding|3/14|c.312+25C>T||||||,T|intron_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000543737|protein_coding|2/13|c.-70+25C>T|||||| 22 32464041 . C T . . ANN=T|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:Transmembrane_region|ENST00000266088|protein_coding|5/15|c.372+28C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:Transmembrane_region|ENST00000266088|protein_coding|4/15|c.372+28C>T||||||,T|intron_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000266088|protein_coding|4/14|c.372+28C>T||||||,T|intron_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000543737|protein_coding|3/13|c.-10+28C>T|||||| 22 32464460 . G C . . ANN=C|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:Transmembrane_region|ENST00000266088|protein_coding|5/15|c.373-23G>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:Transmembrane_region|ENST00000266088|protein_coding|4/15|c.373-23G>C||||||,C|intron_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000266088|protein_coding|4/14|c.373-23G>C||||||,C|intron_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000543737|protein_coding|3/13|c.-9-23G>C|||||| 22 32477867 . G A . . ANN=A|synonymous_variant|LOW|SLC5A1|ENSG00000100170|transcript|ENST00000266088|protein_coding|6/15|c.492G>A|p.Ser164Ser|742/5061|492/1995|164/664||,A|synonymous_variant|LOW|SLC5A1|ENSG00000100170|transcript|ENST00000543737|protein_coding|5/14|c.111G>A|p.Ser37Ser|439/2088|111/1614|37/537||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000266088|protein_coding|6/15|c.492G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000543737|protein_coding|5/14|c.111G>A||||||,A|upstream_gene_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000486394|retained_intron||n.-1G>A|||||1171|,A|upstream_gene_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000477969|retained_intron||n.-1G>A|||||2969| 22 32479101 . G A . . ANN=A|synonymous_variant|LOW|SLC5A1|ENSG00000100170|transcript|ENST00000266088|protein_coding|7/15|c.624G>A|p.Thr208Thr|874/5061|624/1995|208/664||,A|synonymous_variant|LOW|SLC5A1|ENSG00000100170|transcript|ENST00000543737|protein_coding|6/14|c.243G>A|p.Thr81Thr|571/2088|243/1614|81/537||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Cytoplasmic|ENST00000266088|protein_coding|7/15|c.624G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Cytoplasmic|ENST00000543737|protein_coding|6/14|c.243G>A||||||,A|upstream_gene_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000477969|retained_intron||n.-1G>A|||||1735|,A|non_coding_exon_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000486394|retained_intron|1/4|n.64G>A|||||| 22 32479102 . G T . . ANN=T|missense_variant|MODERATE|SLC5A1|ENSG00000100170|transcript|ENST00000266088|protein_coding|7/15|c.625G>T|p.Val209Leu|875/5061|625/1995|209/664||,T|missense_variant|MODERATE|SLC5A1|ENSG00000100170|transcript|ENST00000543737|protein_coding|6/14|c.244G>T|p.Val82Leu|572/2088|244/1614|82/537||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:Transmembrane_region|ENST00000266088|protein_coding|7/15|c.625G>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:Transmembrane_region|ENST00000266088|protein_coding|8/15|c.625G>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:Transmembrane_region|ENST00000543737|protein_coding|6/14|c.244G>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:Transmembrane_region|ENST00000543737|protein_coding|7/14|c.244G>T||||||,T|upstream_gene_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000477969|retained_intron||n.-1G>T|||||1734|,T|non_coding_exon_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000486394|retained_intron|1/4|n.65G>T|||||| 22 32480376 . T C . . ANN=C|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:Transmembrane_region|ENST00000266088|protein_coding|7/15|c.665-50T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:Transmembrane_region|ENST00000266088|protein_coding|8/15|c.665-50T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:Transmembrane_region|ENST00000543737|protein_coding|6/14|c.284-50T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:Transmembrane_region|ENST00000543737|protein_coding|7/14|c.284-50T>C||||||,C|upstream_gene_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000477969|retained_intron||n.-1T>C|||||460|,C|intron_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000266088|protein_coding|7/14|c.665-50T>C||||||,C|intron_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000543737|protein_coding|6/13|c.284-50T>C||||||,C|intron_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000486394|retained_intron|1/3|n.105-50T>C|||||| 22 32480379 . C T . . ANN=T|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:Transmembrane_region|ENST00000266088|protein_coding|7/15|c.665-47C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:Transmembrane_region|ENST00000266088|protein_coding|8/15|c.665-47C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:Transmembrane_region|ENST00000543737|protein_coding|6/14|c.284-47C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:Transmembrane_region|ENST00000543737|protein_coding|7/14|c.284-47C>T||||||,T|upstream_gene_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000477969|retained_intron||n.-1C>T|||||457|,T|intron_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000266088|protein_coding|7/14|c.665-47C>T||||||,T|intron_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000543737|protein_coding|6/13|c.284-47C>T||||||,T|intron_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000486394|retained_intron|1/3|n.105-47C>T|||||| 22 32480505 . C T . . ANN=T|sequence_feature|MODERATE|SLC5A1|ENSG00000100170|glycosylation_site:N-linked__GlcNAc..._|ENST00000266088|protein_coding|8/15|c.744C>T||||||,T|sequence_feature|MODERATE|SLC5A1|ENSG00000100170|glycosylation_site:N-linked__GlcNAc..._|ENST00000543737|protein_coding|7/14|c.363C>T||||||,T|synonymous_variant|LOW|SLC5A1|ENSG00000100170|transcript|ENST00000266088|protein_coding|8/15|c.744C>T|p.Asn248Asn|994/5061|744/1995|248/664||,T|synonymous_variant|LOW|SLC5A1|ENSG00000100170|transcript|ENST00000543737|protein_coding|7/14|c.363C>T|p.Asn121Asn|691/2088|363/1614|121/537||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000266088|protein_coding|8/15|c.744C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000543737|protein_coding|7/14|c.363C>T||||||,T|upstream_gene_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000477969|retained_intron||n.-1C>T|||||331|,T|non_coding_exon_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000486394|retained_intron|2/4|n.184C>T|||||| 22 32480521 . A G . . ANN=G|missense_variant|MODERATE|SLC5A1|ENSG00000100170|transcript|ENST00000266088|protein_coding|8/15|c.760A>G|p.Lys254Glu|1010/5061|760/1995|254/664||,G|missense_variant|MODERATE|SLC5A1|ENSG00000100170|transcript|ENST00000543737|protein_coding|7/14|c.379A>G|p.Lys127Glu|707/2088|379/1614|127/537||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000266088|protein_coding|8/15|c.760A>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000543737|protein_coding|7/14|c.379A>G||||||,G|upstream_gene_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000477969|retained_intron||n.-1A>G|||||315|,G|non_coding_exon_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000486394|retained_intron|2/4|n.200A>G|||||| 22 32480574 . G A . . ANN=A|synonymous_variant|LOW|SLC5A1|ENSG00000100170|transcript|ENST00000266088|protein_coding|8/15|c.813G>A|p.Thr271Thr|1063/5061|813/1995|271/664||,A|synonymous_variant|LOW|SLC5A1|ENSG00000100170|transcript|ENST00000543737|protein_coding|7/14|c.432G>A|p.Thr144Thr|760/2088|432/1614|144/537||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000266088|protein_coding|8/15|c.813G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|15/15|c.813G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|8/15|c.813G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|10/15|c.813G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|12/15|c.813G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|13/15|c.813G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|9/15|c.813G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|14/15|c.813G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|11/15|c.813G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000543737|protein_coding|7/14|c.432G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|14/14|c.432G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|7/14|c.432G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|9/14|c.432G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|11/14|c.432G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|12/14|c.432G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|8/14|c.432G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|13/14|c.432G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|10/14|c.432G>A||||||,A|upstream_gene_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000477969|retained_intron||n.-1G>A|||||262|,A|non_coding_exon_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000486394|retained_intron|2/4|n.253G>A|||||| 22 32480623 . T G . . ANN=G|missense_variant|MODERATE|SLC5A1|ENSG00000100170|transcript|ENST00000266088|protein_coding|8/15|c.862T>G|p.Leu288Val|1112/5061|862/1995|288/664||,G|missense_variant|MODERATE|SLC5A1|ENSG00000100170|transcript|ENST00000543737|protein_coding|7/14|c.481T>G|p.Leu161Val|809/2088|481/1614|161/537||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|15/15|c.862T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|8/15|c.862T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|10/15|c.862T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|12/15|c.862T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|13/15|c.862T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|9/15|c.862T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|14/15|c.862T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|11/15|c.862T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:Transmembrane_region|ENST00000266088|protein_coding|8/15|c.862T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:Transmembrane_region|ENST00000266088|protein_coding|9/15|c.862T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|14/14|c.481T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|7/14|c.481T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|9/14|c.481T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|11/14|c.481T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|12/14|c.481T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|8/14|c.481T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|13/14|c.481T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|10/14|c.481T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:Transmembrane_region|ENST00000543737|protein_coding|7/14|c.481T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:Transmembrane_region|ENST00000543737|protein_coding|8/14|c.481T>G||||||,G|upstream_gene_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000477969|retained_intron||n.-1T>G|||||213|,G|non_coding_exon_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000486394|retained_intron|2/4|n.302T>G|||||| 22 32482200 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|SLC5A1|ENSG00000100170|transcript|ENST00000266088|protein_coding|9/14|c.1022-7T>C||||||,C|splice_region_variant&intron_variant|LOW|SLC5A1|ENSG00000100170|transcript|ENST00000543737|protein_coding|8/13|c.641-7T>C||||||,C|splice_region_variant&intron_variant|LOW|SLC5A1|ENSG00000100170|transcript|ENST00000486394|retained_intron|3/3|n.462-7T>C||||||,C|splice_region_variant&intron_variant|LOW|SLC5A1|ENSG00000100170|transcript|ENST00000477969|retained_intron|1/4|n.188-7T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|15/15|c.1022-7T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|8/15|c.1022-7T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|10/15|c.1022-7T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|12/15|c.1022-7T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|13/15|c.1022-7T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|9/15|c.1022-7T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|14/15|c.1022-7T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|11/15|c.1022-7T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000266088|protein_coding|10/15|c.1022-7T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000266088|protein_coding|9/15|c.1022-7T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000266088|protein_coding|11/15|c.1022-7T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|14/14|c.641-7T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|7/14|c.641-7T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|9/14|c.641-7T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|11/14|c.641-7T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|12/14|c.641-7T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|8/14|c.641-7T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|13/14|c.641-7T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|10/14|c.641-7T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000543737|protein_coding|9/14|c.641-7T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000543737|protein_coding|8/14|c.641-7T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000543737|protein_coding|10/14|c.641-7T>C|||||| 22 32482251 . G A . . ANN=A|missense_variant|MODERATE|SLC5A1|ENSG00000100170|transcript|ENST00000266088|protein_coding|10/15|c.1066G>A|p.Gly356Ser|1316/5061|1066/1995|356/664||,A|missense_variant|MODERATE|SLC5A1|ENSG00000100170|transcript|ENST00000543737|protein_coding|9/14|c.685G>A|p.Gly229Ser|1013/2088|685/1614|229/537||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|15/15|c.1066G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|8/15|c.1066G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|10/15|c.1066G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|12/15|c.1066G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|13/15|c.1066G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|9/15|c.1066G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|14/15|c.1066G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|11/15|c.1066G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000266088|protein_coding|10/15|c.1066G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000266088|protein_coding|9/15|c.1066G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000266088|protein_coding|11/15|c.1066G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|14/14|c.685G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|7/14|c.685G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|9/14|c.685G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|11/14|c.685G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|12/14|c.685G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|8/14|c.685G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|13/14|c.685G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|10/14|c.685G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000543737|protein_coding|9/14|c.685G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000543737|protein_coding|8/14|c.685G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000543737|protein_coding|10/14|c.685G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000486394|retained_intron|4/4|n.506G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000477969|retained_intron|2/5|n.232G>A|||||| 22 32482277 . C T . . ANN=T|synonymous_variant|LOW|SLC5A1|ENSG00000100170|transcript|ENST00000266088|protein_coding|10/15|c.1092C>T|p.Ile364Ile|1342/5061|1092/1995|364/664||,T|synonymous_variant|LOW|SLC5A1|ENSG00000100170|transcript|ENST00000543737|protein_coding|9/14|c.711C>T|p.Ile237Ile|1039/2088|711/1614|237/537||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|15/15|c.1092C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|8/15|c.1092C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|10/15|c.1092C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|12/15|c.1092C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|13/15|c.1092C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|9/15|c.1092C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|14/15|c.1092C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|11/15|c.1092C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000266088|protein_coding|10/15|c.1092C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000266088|protein_coding|9/15|c.1092C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000266088|protein_coding|11/15|c.1092C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|14/14|c.711C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|7/14|c.711C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|9/14|c.711C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|11/14|c.711C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|12/14|c.711C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|8/14|c.711C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|13/14|c.711C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|10/14|c.711C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000543737|protein_coding|9/14|c.711C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000543737|protein_coding|8/14|c.711C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000543737|protein_coding|10/14|c.711C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000486394|retained_intron|4/4|n.532C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000477969|retained_intron|2/5|n.258C>T|||||| 22 32482310 . C T . . ANN=T|synonymous_variant|LOW|SLC5A1|ENSG00000100170|transcript|ENST00000266088|protein_coding|10/15|c.1125C>T|p.Pro375Pro|1375/5061|1125/1995|375/664||,T|synonymous_variant|LOW|SLC5A1|ENSG00000100170|transcript|ENST00000543737|protein_coding|9/14|c.744C>T|p.Pro248Pro|1072/2088|744/1614|248/537||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|15/15|c.1125C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|8/15|c.1125C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|10/15|c.1125C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|12/15|c.1125C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|13/15|c.1125C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|9/15|c.1125C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|14/15|c.1125C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|11/15|c.1125C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000266088|protein_coding|10/15|c.1125C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000266088|protein_coding|9/15|c.1125C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000266088|protein_coding|11/15|c.1125C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|14/14|c.744C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|7/14|c.744C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|9/14|c.744C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|11/14|c.744C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|12/14|c.744C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|8/14|c.744C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|13/14|c.744C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|10/14|c.744C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000543737|protein_coding|9/14|c.744C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000543737|protein_coding|8/14|c.744C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000543737|protein_coding|10/14|c.744C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000486394|retained_intron|4/4|n.565C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000477969|retained_intron|2/5|n.291C>T|||||| 22 32482321 . T G . . ANN=G|splice_region_variant&intron_variant|LOW|SLC5A1|ENSG00000100170|transcript|ENST00000266088|protein_coding|10/14|c.1129+7T>G||||||,G|splice_region_variant&intron_variant|LOW|SLC5A1|ENSG00000100170|transcript|ENST00000543737|protein_coding|9/13|c.748+7T>G||||||,G|splice_region_variant&intron_variant|LOW|SLC5A1|ENSG00000100170|transcript|ENST00000477969|retained_intron|2/4|n.295+7T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|15/15|c.1129+7T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|8/15|c.1129+7T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|10/15|c.1129+7T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|12/15|c.1129+7T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|13/15|c.1129+7T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|9/15|c.1129+7T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|14/15|c.1129+7T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|11/15|c.1129+7T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000266088|protein_coding|10/15|c.1129+7T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000266088|protein_coding|9/15|c.1129+7T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000266088|protein_coding|11/15|c.1129+7T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|14/14|c.748+7T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|7/14|c.748+7T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|9/14|c.748+7T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|11/14|c.748+7T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|12/14|c.748+7T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|8/14|c.748+7T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|13/14|c.748+7T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|10/14|c.748+7T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000543737|protein_coding|9/14|c.748+7T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000543737|protein_coding|8/14|c.748+7T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000543737|protein_coding|10/14|c.748+7T>G||||||,G|downstream_gene_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000486394|retained_intron||n.*568T>G|||||8| 22 32487555 . C T . . ANN=T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|15/15|c.1130-44C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|8/15|c.1130-44C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|10/15|c.1130-44C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|12/15|c.1130-44C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|13/15|c.1130-44C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|9/15|c.1130-44C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|14/15|c.1130-44C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|11/15|c.1130-44C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000266088|protein_coding|10/15|c.1130-44C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000266088|protein_coding|9/15|c.1130-44C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000266088|protein_coding|11/15|c.1130-44C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|14/14|c.749-44C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|7/14|c.749-44C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|9/14|c.749-44C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|11/14|c.749-44C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|12/14|c.749-44C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|8/14|c.749-44C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|13/14|c.749-44C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|10/14|c.749-44C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000543737|protein_coding|9/14|c.749-44C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000543737|protein_coding|8/14|c.749-44C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000543737|protein_coding|10/14|c.749-44C>T||||||,T|intron_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000266088|protein_coding|10/14|c.1130-44C>T||||||,T|intron_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000543737|protein_coding|9/13|c.749-44C>T||||||,T|intron_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000477969|retained_intron|2/4|n.296-44C>T|||||| 22 32487575 . C T . . ANN=T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|15/15|c.1130-24C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|8/15|c.1130-24C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|10/15|c.1130-24C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|12/15|c.1130-24C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|13/15|c.1130-24C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|9/15|c.1130-24C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|14/15|c.1130-24C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|11/15|c.1130-24C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000266088|protein_coding|10/15|c.1130-24C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000266088|protein_coding|9/15|c.1130-24C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000266088|protein_coding|11/15|c.1130-24C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|14/14|c.749-24C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|7/14|c.749-24C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|9/14|c.749-24C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|11/14|c.749-24C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|12/14|c.749-24C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|8/14|c.749-24C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|13/14|c.749-24C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|10/14|c.749-24C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000543737|protein_coding|9/14|c.749-24C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000543737|protein_coding|8/14|c.749-24C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000543737|protein_coding|10/14|c.749-24C>T||||||,T|intron_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000266088|protein_coding|10/14|c.1130-24C>T||||||,T|intron_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000543737|protein_coding|9/13|c.749-24C>T||||||,T|intron_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000477969|retained_intron|2/4|n.296-24C>T|||||| 22 32487590 . C T . . ANN=T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|15/15|c.1130-9C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|8/15|c.1130-9C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|10/15|c.1130-9C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|12/15|c.1130-9C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|13/15|c.1130-9C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|9/15|c.1130-9C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|14/15|c.1130-9C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|11/15|c.1130-9C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000266088|protein_coding|10/15|c.1130-9C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000266088|protein_coding|9/15|c.1130-9C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000266088|protein_coding|11/15|c.1130-9C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|14/14|c.749-9C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|7/14|c.749-9C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|9/14|c.749-9C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|11/14|c.749-9C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|12/14|c.749-9C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|8/14|c.749-9C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|13/14|c.749-9C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|10/14|c.749-9C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000543737|protein_coding|9/14|c.749-9C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000543737|protein_coding|8/14|c.749-9C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000543737|protein_coding|10/14|c.749-9C>T||||||,T|intron_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000266088|protein_coding|10/14|c.1130-9C>T||||||,T|intron_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000543737|protein_coding|9/13|c.749-9C>T||||||,T|intron_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000477969|retained_intron|2/4|n.296-9C>T|||||| 22 32487639 . CATG C . . ANN=|disruptive_inframe_deletion|MODERATE|SLC5A1|ENSG00000100170|transcript|ENST00000266088|protein_coding|11/15|c.1172_1174delTGA|p.Met391del|1422/5061|1172/1995|391/664||INFO_REALIGN_3_PRIME,|disruptive_inframe_deletion|MODERATE|SLC5A1|ENSG00000100170|transcript|ENST00000543737|protein_coding|10/14|c.791_793delTGA|p.Met264del|1119/2088|791/1614|264/537||INFO_REALIGN_3_PRIME,|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|15/15|c.1171_1173delATG||||||,|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|8/15|c.1171_1173delATG||||||,|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|10/15|c.1171_1173delATG||||||,|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|12/15|c.1171_1173delATG||||||,|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|13/15|c.1171_1173delATG||||||,|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|9/15|c.1171_1173delATG||||||,|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|14/15|c.1171_1173delATG||||||,|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|11/15|c.1171_1173delATG||||||,|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:Transmembrane_region|ENST00000266088|protein_coding|11/15|c.1171_1173delATG||||||,|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|14/14|c.790_792delATG||||||,|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|7/14|c.790_792delATG||||||,|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|9/14|c.790_792delATG||||||,|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|11/14|c.790_792delATG||||||,|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|12/14|c.790_792delATG||||||,|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|8/14|c.790_792delATG||||||,|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|13/14|c.790_792delATG||||||,|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|10/14|c.790_792delATG||||||,|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:Transmembrane_region|ENST00000543737|protein_coding|10/14|c.790_792delATG||||||,|non_coding_exon_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000477969|retained_intron|3/5|n.338_340delTGA||||||INFO_REALIGN_3_PRIME 22 32487651 . G A . . ANN=A|synonymous_variant|LOW|SLC5A1|ENSG00000100170|transcript|ENST00000266088|protein_coding|11/15|c.1182G>A|p.Leu394Leu|1432/5061|1182/1995|394/664||,A|synonymous_variant|LOW|SLC5A1|ENSG00000100170|transcript|ENST00000543737|protein_coding|10/14|c.801G>A|p.Leu267Leu|1129/2088|801/1614|267/537||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|15/15|c.1182G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|8/15|c.1182G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|10/15|c.1182G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|12/15|c.1182G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|13/15|c.1182G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|9/15|c.1182G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|14/15|c.1182G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|11/15|c.1182G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:Transmembrane_region|ENST00000266088|protein_coding|11/15|c.1182G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|14/14|c.801G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|7/14|c.801G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|9/14|c.801G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|11/14|c.801G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|12/14|c.801G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|8/14|c.801G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|13/14|c.801G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|10/14|c.801G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:Transmembrane_region|ENST00000543737|protein_coding|10/14|c.801G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000477969|retained_intron|3/5|n.348G>A|||||| 22 32487669 . C T . . ANN=T|synonymous_variant|LOW|SLC5A1|ENSG00000100170|transcript|ENST00000266088|protein_coding|11/15|c.1200C>T|p.Ser400Ser|1450/5061|1200/1995|400/664||,T|synonymous_variant|LOW|SLC5A1|ENSG00000100170|transcript|ENST00000543737|protein_coding|10/14|c.819C>T|p.Ser273Ser|1147/2088|819/1614|273/537||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|15/15|c.1200C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|8/15|c.1200C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|10/15|c.1200C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|12/15|c.1200C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|13/15|c.1200C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|9/15|c.1200C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|14/15|c.1200C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|11/15|c.1200C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:Transmembrane_region|ENST00000266088|protein_coding|11/15|c.1200C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|14/14|c.819C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|7/14|c.819C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|9/14|c.819C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|11/14|c.819C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|12/14|c.819C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|8/14|c.819C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|13/14|c.819C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|10/14|c.819C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:Transmembrane_region|ENST00000543737|protein_coding|10/14|c.819C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000477969|retained_intron|3/5|n.366C>T|||||| 22 32487700 . G A . . ANN=A|missense_variant|MODERATE|SLC5A1|ENSG00000100170|transcript|ENST00000266088|protein_coding|11/15|c.1231G>A|p.Ala411Thr|1481/5061|1231/1995|411/664||,A|missense_variant|MODERATE|SLC5A1|ENSG00000100170|transcript|ENST00000543737|protein_coding|10/14|c.850G>A|p.Ala284Thr|1178/2088|850/1614|284/537||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|15/15|c.1231G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|8/15|c.1231G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|10/15|c.1231G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|12/15|c.1231G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|13/15|c.1231G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|9/15|c.1231G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|14/15|c.1231G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|11/15|c.1231G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Cytoplasmic|ENST00000266088|protein_coding|11/15|c.1231G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|14/14|c.850G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|7/14|c.850G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|9/14|c.850G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|11/14|c.850G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|12/14|c.850G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|8/14|c.850G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|13/14|c.850G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|10/14|c.850G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Cytoplasmic|ENST00000543737|protein_coding|10/14|c.850G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000477969|retained_intron|3/5|n.397G>A|||||| 22 32487744 . C T . . ANN=T|synonymous_variant|LOW|SLC5A1|ENSG00000100170|transcript|ENST00000266088|protein_coding|11/15|c.1275C>T|p.Ala425Ala|1525/5061|1275/1995|425/664||,T|synonymous_variant|LOW|SLC5A1|ENSG00000100170|transcript|ENST00000543737|protein_coding|10/14|c.894C>T|p.Ala298Ala|1222/2088|894/1614|298/537||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|15/15|c.1275C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|8/15|c.1275C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|10/15|c.1275C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|12/15|c.1275C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|13/15|c.1275C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|9/15|c.1275C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|14/15|c.1275C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|11/15|c.1275C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:Transmembrane_region|ENST00000266088|protein_coding|12/15|c.1275C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:Transmembrane_region|ENST00000266088|protein_coding|11/15|c.1275C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|14/14|c.894C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|7/14|c.894C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|9/14|c.894C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|11/14|c.894C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|12/14|c.894C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|8/14|c.894C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|13/14|c.894C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|10/14|c.894C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:Transmembrane_region|ENST00000543737|protein_coding|11/14|c.894C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:Transmembrane_region|ENST00000543737|protein_coding|10/14|c.894C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000477969|retained_intron|3/5|n.441C>T|||||| 22 32495248 . C T . . ANN=T|synonymous_variant|LOW|SLC5A1|ENSG00000100170|transcript|ENST00000266088|protein_coding|12/15|c.1359C>T|p.Phe453Phe|1609/5061|1359/1995|453/664||,T|synonymous_variant|LOW|SLC5A1|ENSG00000100170|transcript|ENST00000543737|protein_coding|11/14|c.978C>T|p.Phe326Phe|1306/2088|978/1614|326/537||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|15/15|c.1359C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|8/15|c.1359C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|10/15|c.1359C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|12/15|c.1359C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|13/15|c.1359C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|9/15|c.1359C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|14/15|c.1359C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|11/15|c.1359C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000266088|protein_coding|12/15|c.1359C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|14/14|c.978C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|7/14|c.978C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|9/14|c.978C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|11/14|c.978C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|12/14|c.978C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|8/14|c.978C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|13/14|c.978C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|10/14|c.978C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000543737|protein_coding|11/14|c.978C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000477969|retained_intron|4/5|n.525C>T|||||| 22 32498089 . C T . . ANN=T|synonymous_variant|LOW|SLC5A1|ENSG00000100170|transcript|ENST00000266088|protein_coding|13/15|c.1530C>T|p.Ser510Ser|1780/5061|1530/1995|510/664||,T|synonymous_variant|LOW|SLC5A1|ENSG00000100170|transcript|ENST00000543737|protein_coding|12/14|c.1149C>T|p.Ser383Ser|1477/2088|1149/1614|383/537||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|15/15|c.1530C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|8/15|c.1530C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|10/15|c.1530C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|12/15|c.1530C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|13/15|c.1530C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|9/15|c.1530C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|14/15|c.1530C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|11/15|c.1530C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000266088|protein_coding|13/15|c.1530C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|14/14|c.1149C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|7/14|c.1149C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|9/14|c.1149C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|11/14|c.1149C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|12/14|c.1149C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|8/14|c.1149C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|13/14|c.1149C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|10/14|c.1149C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000543737|protein_coding|12/14|c.1149C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000477969|retained_intron|5/5|n.696C>T|||||| 22 32500727 . G A . . ANN=A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|15/15|c.1666-46G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|8/15|c.1666-46G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|10/15|c.1666-46G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|12/15|c.1666-46G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|13/15|c.1666-46G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|9/15|c.1666-46G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|14/15|c.1666-46G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|11/15|c.1666-46G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:In_membrane|ENST00000266088|protein_coding|13/15|c.1666-46G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:In_membrane|ENST00000266088|protein_coding|14/15|c.1666-46G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|14/14|c.1285-46G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|7/14|c.1285-46G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|9/14|c.1285-46G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|11/14|c.1285-46G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|12/14|c.1285-46G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|8/14|c.1285-46G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|13/14|c.1285-46G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|10/14|c.1285-46G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:In_membrane|ENST00000543737|protein_coding|12/14|c.1285-46G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:In_membrane|ENST00000543737|protein_coding|13/14|c.1285-46G>A||||||,A|downstream_gene_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000477969|retained_intron||n.*801G>A|||||2533|,A|intron_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000266088|protein_coding|13/14|c.1666-46G>A||||||,A|intron_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000543737|protein_coding|12/13|c.1285-46G>A|||||| 22 32500768 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|SLC5A1|ENSG00000100170|transcript|ENST00000266088|protein_coding|13/14|c.1666-5T>C||||||,C|splice_region_variant&intron_variant|LOW|SLC5A1|ENSG00000100170|transcript|ENST00000543737|protein_coding|12/13|c.1285-5T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|15/15|c.1666-5T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|8/15|c.1666-5T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|10/15|c.1666-5T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|12/15|c.1666-5T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|13/15|c.1666-5T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|9/15|c.1666-5T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|14/15|c.1666-5T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|11/15|c.1666-5T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:In_membrane|ENST00000266088|protein_coding|13/15|c.1666-5T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:In_membrane|ENST00000266088|protein_coding|14/15|c.1666-5T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|14/14|c.1285-5T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|7/14|c.1285-5T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|9/14|c.1285-5T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|11/14|c.1285-5T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|12/14|c.1285-5T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|8/14|c.1285-5T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|13/14|c.1285-5T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|10/14|c.1285-5T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:In_membrane|ENST00000543737|protein_coding|12/14|c.1285-5T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:In_membrane|ENST00000543737|protein_coding|13/14|c.1285-5T>C||||||,C|downstream_gene_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000477969|retained_intron||n.*801T>C|||||2574| 22 32500870 . T C . . ANN=C|missense_variant|MODERATE|SLC5A1|ENSG00000100170|transcript|ENST00000266088|protein_coding|14/15|c.1763T>C|p.Ile588Thr|2013/5061|1763/1995|588/664||,C|missense_variant|MODERATE|SLC5A1|ENSG00000100170|transcript|ENST00000543737|protein_coding|13/14|c.1382T>C|p.Ile461Thr|1710/2088|1382/1614|461/537||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|15/15|c.1763T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|8/15|c.1763T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|10/15|c.1763T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|12/15|c.1763T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|13/15|c.1763T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|9/15|c.1763T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|14/15|c.1763T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|11/15|c.1763T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000266088|protein_coding|15/15|c.1763T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000266088|protein_coding|14/15|c.1763T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|14/14|c.1382T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|7/14|c.1382T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|9/14|c.1382T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|11/14|c.1382T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|12/14|c.1382T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|8/14|c.1382T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|13/14|c.1382T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|10/14|c.1382T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000543737|protein_coding|14/14|c.1382T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000543737|protein_coding|13/14|c.1382T>C||||||,C|downstream_gene_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000477969|retained_intron||n.*801T>C|||||2676| 22 32505956 . T C . . ANN=C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|15/15|c.1772-21T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|8/15|c.1772-21T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|10/15|c.1772-21T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|12/15|c.1772-21T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|13/15|c.1772-21T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|9/15|c.1772-21T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|14/15|c.1772-21T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|11/15|c.1772-21T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000266088|protein_coding|15/15|c.1772-21T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000266088|protein_coding|14/15|c.1772-21T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|14/14|c.1391-21T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|7/14|c.1391-21T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|9/14|c.1391-21T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|11/14|c.1391-21T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|12/14|c.1391-21T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|8/14|c.1391-21T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|13/14|c.1391-21T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|10/14|c.1391-21T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000543737|protein_coding|14/14|c.1391-21T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000543737|protein_coding|13/14|c.1391-21T>C||||||,C|intron_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000266088|protein_coding|14/14|c.1772-21T>C||||||,C|intron_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000543737|protein_coding|13/13|c.1391-21T>C|||||| 22 32506041 . A G . . ANN=G|synonymous_variant|LOW|SLC5A1|ENSG00000100170|transcript|ENST00000266088|protein_coding|15/15|c.1836A>G|p.Leu612Leu|2086/5061|1836/1995|612/664||,G|synonymous_variant|LOW|SLC5A1|ENSG00000100170|transcript|ENST00000543737|protein_coding|14/14|c.1455A>G|p.Leu485Leu|1783/2088|1455/1614|485/537||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000266088|protein_coding|15/15|c.1836A>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000266088|protein_coding|14/15|c.1836A>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000543737|protein_coding|14/14|c.1455A>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000543737|protein_coding|13/14|c.1455A>G|||||| 22 32506050 . C G . . ANN=G|missense_variant|MODERATE|SLC5A1|ENSG00000100170|transcript|ENST00000266088|protein_coding|15/15|c.1845C>G|p.His615Gln|2095/5061|1845/1995|615/664||,G|missense_variant|MODERATE|SLC5A1|ENSG00000100170|transcript|ENST00000543737|protein_coding|14/14|c.1464C>G|p.His488Gln|1792/2088|1464/1614|488/537||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000266088|protein_coding|15/15|c.1845C>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000266088|protein_coding|14/15|c.1845C>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000543737|protein_coding|14/14|c.1464C>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000543737|protein_coding|13/14|c.1464C>G|||||| 22 32506104 . G A . . ANN=A|synonymous_variant|LOW|SLC5A1|ENSG00000100170|transcript|ENST00000266088|protein_coding|15/15|c.1899G>A|p.Thr633Thr|2149/5061|1899/1995|633/664||,A|synonymous_variant|LOW|SLC5A1|ENSG00000100170|transcript|ENST00000543737|protein_coding|14/14|c.1518G>A|p.Thr506Thr|1846/2088|1518/1614|506/537||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000266088|protein_coding|15/15|c.1899G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000266088|protein_coding|14/15|c.1899G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000543737|protein_coding|14/14|c.1518G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000543737|protein_coding|13/14|c.1518G>A|||||| 22 32506143 . C T . . ANN=T|synonymous_variant|LOW|SLC5A1|ENSG00000100170|transcript|ENST00000266088|protein_coding|15/15|c.1938C>T|p.Asn646Asn|2188/5061|1938/1995|646/664||,T|synonymous_variant|LOW|SLC5A1|ENSG00000100170|transcript|ENST00000543737|protein_coding|14/14|c.1557C>T|p.Asn519Asn|1885/2088|1557/1614|519/537||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:Transmembrane_region|ENST00000266088|protein_coding|15/15|c.1938C>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:Transmembrane_region|ENST00000543737|protein_coding|14/14|c.1557C>T|||||| 22 32545720 . C G . . ANN=G|intron_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000382097|protein_coding|8/8|c.682+20G>C||||||,G|intron_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000467813|retained_intron|7/7|n.1301+20G>C||||||,G|intron_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000490640|processed_transcript|1/1|n.174+20G>C|||||| 22 32545762 . C T . . ANN=T|synonymous_variant|LOW|C22orf42|ENSG00000205856|transcript|ENST00000382097|protein_coding|8/9|c.660G>A|p.Lys220Lys|733/1363|660/756|220/251||,T|non_coding_exon_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000467813|retained_intron|7/8|n.1279G>A||||||,T|non_coding_exon_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000490640|processed_transcript|1/2|n.152G>A|||||| 22 32545789 . C T . . ANN=T|intron_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000382097|protein_coding|7/8|c.655-22G>A||||||,T|intron_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000467813|retained_intron|6/7|n.1274-22G>A||||||,T|non_coding_exon_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000490640|processed_transcript|1/2|n.125G>A|||||| 22 32546289 . A G . . ANN=G|upstream_gene_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000490640|processed_transcript||n.-1T>C|||||376|,G|intron_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000382097|protein_coding|7/8|c.654+17T>C||||||,G|intron_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000467813|retained_intron|6/7|n.1273+17T>C|||||| 22 32546299 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|C22orf42|ENSG00000205856|transcript|ENST00000382097|protein_coding|7/8|c.654+7T>C||||||,G|splice_region_variant&intron_variant|LOW|C22orf42|ENSG00000205856|transcript|ENST00000467813|retained_intron|6/7|n.1273+7T>C||||||,G|upstream_gene_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000490640|processed_transcript||n.-1T>C|||||386| 22 32546312 . C T . . ANN=T|synonymous_variant|LOW|C22orf42|ENSG00000205856|transcript|ENST00000382097|protein_coding|7/9|c.648G>A|p.Pro216Pro|721/1363|648/756|216/251||,T|upstream_gene_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000490640|processed_transcript||n.-1G>A|||||399|,T|non_coding_exon_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000467813|retained_intron|6/8|n.1267G>A|||||| 22 32546313 . G A . . ANN=A|missense_variant|MODERATE|C22orf42|ENSG00000205856|transcript|ENST00000382097|protein_coding|7/9|c.647C>T|p.Pro216Leu|720/1363|647/756|216/251||,A|upstream_gene_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000490640|processed_transcript||n.-1C>T|||||400|,A|non_coding_exon_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000467813|retained_intron|6/8|n.1266C>T|||||| 22 32546319 . A G . . ANN=G|missense_variant|MODERATE|C22orf42|ENSG00000205856|transcript|ENST00000382097|protein_coding|7/9|c.641T>C|p.Met214Thr|714/1363|641/756|214/251||,G|upstream_gene_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000490640|processed_transcript||n.-1T>C|||||406|,G|non_coding_exon_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000467813|retained_intron|6/8|n.1260T>C|||||| 22 32546409 . G A . . ANN=A|missense_variant|MODERATE|C22orf42|ENSG00000205856|transcript|ENST00000382097|protein_coding|7/9|c.551C>T|p.Ser184Leu|624/1363|551/756|184/251||,A|upstream_gene_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000490640|processed_transcript||n.-1C>T|||||496|,A|non_coding_exon_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000467813|retained_intron|6/8|n.1170C>T|||||| 22 32546959 . G T . . ANN=T|upstream_gene_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000490640|processed_transcript||n.-1C>A|||||1046|,T|intron_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000382097|protein_coding|6/8|c.493+20C>A||||||,T|non_coding_exon_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000467813|retained_intron|6/8|n.620C>A|||||| 22 32546975 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|C22orf42|ENSG00000205856|transcript|ENST00000382097|protein_coding|6/8|c.493+4C>T||||||,A|upstream_gene_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000490640|processed_transcript||n.-1C>T|||||1062|,A|non_coding_exon_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000467813|retained_intron|6/8|n.604C>T|||||| 22 32547484 . G A . . ANN=A|missense_variant|MODERATE|C22orf42|ENSG00000205856|transcript|ENST00000382097|protein_coding|5/9|c.455C>T|p.Thr152Met|528/1363|455/756|152/251||,A|upstream_gene_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000490640|processed_transcript||n.-1C>T|||||1571|,A|non_coding_exon_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000467813|retained_intron|5/8|n.562C>T|||||| 22 32547523 . A T . . ANN=T|missense_variant|MODERATE|C22orf42|ENSG00000205856|transcript|ENST00000382097|protein_coding|5/9|c.416T>A|p.Val139Glu|489/1363|416/756|139/251||,T|upstream_gene_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000490640|processed_transcript||n.-1T>A|||||1610|,T|non_coding_exon_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000467813|retained_intron|5/8|n.523T>A|||||| 22 32548021 . G A . . ANN=A|upstream_gene_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000490640|processed_transcript||n.-1C>T|||||2108|,A|intron_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000382097|protein_coding|4/8|c.400+33C>T||||||,A|intron_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000467813|retained_intron|4/7|n.507+33C>T|||||| 22 32548036 . T TA . . ANN=A|upstream_gene_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000490640|processed_transcript||n.-1dupT|||||2124|,A|intron_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000382097|protein_coding|4/8|c.400+17dupT||||||,A|intron_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000467813|retained_intron|4/7|n.507+17dupT|||||| 22 32548060 . C T . . ANN=T|missense_variant|MODERATE|C22orf42|ENSG00000205856|transcript|ENST00000382097|protein_coding|4/9|c.394G>A|p.Asp132Asn|467/1363|394/756|132/251||,T|upstream_gene_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000490640|processed_transcript||n.-1G>A|||||2147|,T|non_coding_exon_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000467813|retained_intron|4/8|n.501G>A|||||| 22 32548128 . G T . . ANN=T|upstream_gene_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000490640|processed_transcript||n.-1C>A|||||2215|,T|intron_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000382097|protein_coding|3/8|c.373-47C>A||||||,T|intron_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000467813|retained_intron|3/7|n.480-47C>A|||||| 22 32554956 . C T . . ANN=T|downstream_gene_variant|MODIFIER|RP1-90G24.8|ENSG00000230120|transcript|ENST00000426354|lincRNA||n.*562G>A|||||485|,T|intron_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000382097|protein_coding|1/8|c.232+15G>A||||||,T|intron_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000467813|retained_intron|1/7|n.339+15G>A|||||| 22 32554985 . A G . . ANN=G|missense_variant|MODERATE|C22orf42|ENSG00000205856|transcript|ENST00000382097|protein_coding|1/9|c.218T>C|p.Leu73Pro|291/1363|218/756|73/251||,G|downstream_gene_variant|MODIFIER|RP1-90G24.8|ENSG00000230120|transcript|ENST00000426354|lincRNA||n.*562T>C|||||456|,G|non_coding_exon_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000467813|retained_intron|1/8|n.325T>C|||||| 22 32554996 . C T . . ANN=T|synonymous_variant|LOW|C22orf42|ENSG00000205856|transcript|ENST00000382097|protein_coding|1/9|c.207G>A|p.Thr69Thr|280/1363|207/756|69/251||,T|downstream_gene_variant|MODIFIER|RP1-90G24.8|ENSG00000230120|transcript|ENST00000426354|lincRNA||n.*562G>A|||||445|,T|non_coding_exon_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000467813|retained_intron|1/8|n.314G>A|||||| 22 32554997 . G A . . ANN=A|missense_variant|MODERATE|C22orf42|ENSG00000205856|transcript|ENST00000382097|protein_coding|1/9|c.206C>T|p.Thr69Met|279/1363|206/756|69/251||,A|downstream_gene_variant|MODIFIER|RP1-90G24.8|ENSG00000230120|transcript|ENST00000426354|lincRNA||n.*562C>T|||||444|,A|non_coding_exon_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000467813|retained_intron|1/8|n.313C>T|||||| 22 32555023 . G A . . ANN=A|synonymous_variant|LOW|C22orf42|ENSG00000205856|transcript|ENST00000382097|protein_coding|1/9|c.180C>T|p.Leu60Leu|253/1363|180/756|60/251||,A|downstream_gene_variant|MODIFIER|RP1-90G24.8|ENSG00000230120|transcript|ENST00000426354|lincRNA||n.*562C>T|||||418|,A|non_coding_exon_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000467813|retained_intron|1/8|n.287C>T|||||| 22 32587251 . C A . . ANN=A|missense_variant|MODERATE|RFPL2|ENSG00000128253|transcript|ENST00000400237|protein_coding|5/5|c.645G>T|p.Gln215His|1581/2407|645/1137|215/378||,A|missense_variant|MODERATE|RFPL2|ENSG00000128253|transcript|ENST00000248980|protein_coding|2/2|c.462G>T|p.Gln154His|667/1496|462/954|154/317||,A|missense_variant|MODERATE|RFPL2|ENSG00000128253|transcript|ENST00000400236|protein_coding|5/5|c.375G>T|p.Gln125His|1581/2410|375/867|125/288||,A|missense_variant|MODERATE|RFPL2|ENSG00000128253|transcript|ENST00000248983|protein_coding|4/4|c.375G>T|p.Gln125His|623/1452|375/867|125/288||,A|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000400237|protein_coding|4/5|c.645G>T||||||,A|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000400237|protein_coding|5/5|c.645G>T||||||,A|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000248980|protein_coding|2/2|c.462G>T||||||,A|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000248980|protein_coding|1/2|c.462G>T||||||,A|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000248983|protein_coding|4/4|c.375G>T||||||,A|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000248983|protein_coding|3/4|c.375G>T||||||,A|non_coding_exon_variant|MODIFIER|RFPL2|ENSG00000128253|transcript|ENST00000489846|processed_transcript|2/2|n.589G>T|||||| 22 32587273 . A C . . ANN=C|missense_variant|MODERATE|RFPL2|ENSG00000128253|transcript|ENST00000400237|protein_coding|5/5|c.623T>G|p.Val208Gly|1559/2407|623/1137|208/378||,C|missense_variant|MODERATE|RFPL2|ENSG00000128253|transcript|ENST00000248980|protein_coding|2/2|c.440T>G|p.Val147Gly|645/1496|440/954|147/317||,C|missense_variant|MODERATE|RFPL2|ENSG00000128253|transcript|ENST00000400236|protein_coding|5/5|c.353T>G|p.Val118Gly|1559/2410|353/867|118/288||,C|missense_variant|MODERATE|RFPL2|ENSG00000128253|transcript|ENST00000248983|protein_coding|4/4|c.353T>G|p.Val118Gly|601/1452|353/867|118/288||,C|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000400237|protein_coding|4/5|c.623T>G||||||,C|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000400237|protein_coding|5/5|c.623T>G||||||,C|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000248980|protein_coding|2/2|c.440T>G||||||,C|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000248980|protein_coding|1/2|c.440T>G||||||,C|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000248983|protein_coding|4/4|c.353T>G||||||,C|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000248983|protein_coding|3/4|c.353T>G||||||,C|non_coding_exon_variant|MODIFIER|RFPL2|ENSG00000128253|transcript|ENST00000489846|processed_transcript|2/2|n.567T>G|||||| 22 32587286 . C T . . ANN=T|missense_variant|MODERATE|RFPL2|ENSG00000128253|transcript|ENST00000400237|protein_coding|5/5|c.610G>A|p.Asp204Asn|1546/2407|610/1137|204/378||,T|missense_variant|MODERATE|RFPL2|ENSG00000128253|transcript|ENST00000248980|protein_coding|2/2|c.427G>A|p.Asp143Asn|632/1496|427/954|143/317||,T|missense_variant|MODERATE|RFPL2|ENSG00000128253|transcript|ENST00000400236|protein_coding|5/5|c.340G>A|p.Asp114Asn|1546/2410|340/867|114/288||,T|missense_variant|MODERATE|RFPL2|ENSG00000128253|transcript|ENST00000248983|protein_coding|4/4|c.340G>A|p.Asp114Asn|588/1452|340/867|114/288||,T|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000400237|protein_coding|4/5|c.610G>A||||||,T|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000400237|protein_coding|5/5|c.610G>A||||||,T|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000248980|protein_coding|2/2|c.427G>A||||||,T|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000248980|protein_coding|1/2|c.427G>A||||||,T|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000248983|protein_coding|4/4|c.340G>A||||||,T|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000248983|protein_coding|3/4|c.340G>A||||||,T|non_coding_exon_variant|MODIFIER|RFPL2|ENSG00000128253|transcript|ENST00000489846|processed_transcript|2/2|n.554G>A|||||| 22 32587302 . G A . . ANN=A|synonymous_variant|LOW|RFPL2|ENSG00000128253|transcript|ENST00000400237|protein_coding|5/5|c.594C>T|p.Phe198Phe|1530/2407|594/1137|198/378||,A|synonymous_variant|LOW|RFPL2|ENSG00000128253|transcript|ENST00000248980|protein_coding|2/2|c.411C>T|p.Phe137Phe|616/1496|411/954|137/317||,A|synonymous_variant|LOW|RFPL2|ENSG00000128253|transcript|ENST00000400236|protein_coding|5/5|c.324C>T|p.Phe108Phe|1530/2410|324/867|108/288||,A|synonymous_variant|LOW|RFPL2|ENSG00000128253|transcript|ENST00000248983|protein_coding|4/4|c.324C>T|p.Phe108Phe|572/1452|324/867|108/288||,A|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000400237|protein_coding|4/5|c.594C>T||||||,A|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000400237|protein_coding|5/5|c.594C>T||||||,A|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000248980|protein_coding|2/2|c.411C>T||||||,A|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000248980|protein_coding|1/2|c.411C>T||||||,A|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000248983|protein_coding|4/4|c.324C>T||||||,A|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000248983|protein_coding|3/4|c.324C>T||||||,A|non_coding_exon_variant|MODIFIER|RFPL2|ENSG00000128253|transcript|ENST00000489846|processed_transcript|2/2|n.538C>T|||||| 22 32587350 . GA G,GAA . . ANN=|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000400237|protein_coding|4/5|c.557-12delT||||||,|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000400237|protein_coding|5/5|c.557-12delT||||||,A|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000400237|protein_coding|4/5|c.557-13dupT||||||,A|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000400237|protein_coding|5/5|c.557-13dupT||||||,|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000248980|protein_coding|2/2|c.374-12delT||||||,|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000248980|protein_coding|1/2|c.374-12delT||||||,A|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000248980|protein_coding|2/2|c.374-13dupT||||||,A|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000248980|protein_coding|1/2|c.374-13dupT||||||,|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000248983|protein_coding|4/4|c.287-12delT||||||,|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000248983|protein_coding|3/4|c.287-12delT||||||,A|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000248983|protein_coding|4/4|c.287-13dupT||||||,A|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000248983|protein_coding|3/4|c.287-13dupT||||||,|intron_variant|MODIFIER|RFPL2|ENSG00000128253|transcript|ENST00000400237|protein_coding|4/4|c.557-12delT||||||,A|intron_variant|MODIFIER|RFPL2|ENSG00000128253|transcript|ENST00000400237|protein_coding|4/4|c.557-13dupT||||||,|intron_variant|MODIFIER|RFPL2|ENSG00000128253|transcript|ENST00000248980|protein_coding|1/1|c.374-12delT||||||,A|intron_variant|MODIFIER|RFPL2|ENSG00000128253|transcript|ENST00000248980|protein_coding|1/1|c.374-13dupT||||||,|intron_variant|MODIFIER|RFPL2|ENSG00000128253|transcript|ENST00000400236|protein_coding|4/4|c.287-12delT||||||,A|intron_variant|MODIFIER|RFPL2|ENSG00000128253|transcript|ENST00000400236|protein_coding|4/4|c.287-13dupT||||||,|intron_variant|MODIFIER|RFPL2|ENSG00000128253|transcript|ENST00000248983|protein_coding|3/3|c.287-12delT||||||,A|intron_variant|MODIFIER|RFPL2|ENSG00000128253|transcript|ENST00000248983|protein_coding|3/3|c.287-13dupT||||||,|intron_variant|MODIFIER|RFPL2|ENSG00000128253|transcript|ENST00000489846|processed_transcript|1/1|n.501-12delT||||||,A|intron_variant|MODIFIER|RFPL2|ENSG00000128253|transcript|ENST00000489846|processed_transcript|1/1|n.501-13dupT|||||| 22 32588901 . G A . . ANN=A|missense_variant|MODERATE|RFPL2|ENSG00000128253|transcript|ENST00000400237|protein_coding|4/5|c.544C>T|p.Arg182Trp|1480/2407|544/1137|182/378||,A|missense_variant|MODERATE|RFPL2|ENSG00000128253|transcript|ENST00000248980|protein_coding|1/2|c.361C>T|p.Arg121Trp|566/1496|361/954|121/317||,A|missense_variant|MODERATE|RFPL2|ENSG00000128253|transcript|ENST00000400236|protein_coding|4/5|c.274C>T|p.Arg92Trp|1480/2410|274/867|92/288||,A|missense_variant|MODERATE|RFPL2|ENSG00000128253|transcript|ENST00000248983|protein_coding|3/4|c.274C>T|p.Arg92Trp|522/1452|274/867|92/288||,A|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000400237|protein_coding|4/5|c.544C>T||||||,A|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000400237|protein_coding|5/5|c.544C>T||||||,A|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000248980|protein_coding|2/2|c.361C>T||||||,A|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000248980|protein_coding|1/2|c.361C>T||||||,A|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000248983|protein_coding|4/4|c.274C>T||||||,A|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000248983|protein_coding|3/4|c.274C>T||||||,A|non_coding_exon_variant|MODIFIER|RFPL2|ENSG00000128253|transcript|ENST00000489846|processed_transcript|1/2|n.488C>T|||||| 22 32588980 . C G . . ANN=G|synonymous_variant|LOW|RFPL2|ENSG00000128253|transcript|ENST00000400237|protein_coding|4/5|c.465G>C|p.Arg155Arg|1401/2407|465/1137|155/378||,G|synonymous_variant|LOW|RFPL2|ENSG00000128253|transcript|ENST00000248980|protein_coding|1/2|c.282G>C|p.Arg94Arg|487/1496|282/954|94/317||,G|synonymous_variant|LOW|RFPL2|ENSG00000128253|transcript|ENST00000400236|protein_coding|4/5|c.195G>C|p.Arg65Arg|1401/2410|195/867|65/288||,G|synonymous_variant|LOW|RFPL2|ENSG00000128253|transcript|ENST00000248983|protein_coding|3/4|c.195G>C|p.Arg65Arg|443/1452|195/867|65/288||,G|non_coding_exon_variant|MODIFIER|RFPL2|ENSG00000128253|transcript|ENST00000489846|processed_transcript|1/2|n.409G>C|||||| 22 32589023 . C T . . ANN=T|missense_variant|MODERATE|RFPL2|ENSG00000128253|transcript|ENST00000400237|protein_coding|4/5|c.422G>A|p.Cys141Tyr|1358/2407|422/1137|141/378||,T|missense_variant|MODERATE|RFPL2|ENSG00000128253|transcript|ENST00000248980|protein_coding|1/2|c.239G>A|p.Cys80Tyr|444/1496|239/954|80/317||,T|missense_variant|MODERATE|RFPL2|ENSG00000128253|transcript|ENST00000400236|protein_coding|4/5|c.152G>A|p.Cys51Tyr|1358/2410|152/867|51/288||,T|missense_variant|MODERATE|RFPL2|ENSG00000128253|transcript|ENST00000248983|protein_coding|3/4|c.152G>A|p.Cys51Tyr|400/1452|152/867|51/288||,T|sequence_feature|LOW|RFPL2|ENSG00000128253|zinc_finger_region:RING-type|ENST00000400237|protein_coding|4/5|c.422G>A||||||,T|sequence_feature|LOW|RFPL2|ENSG00000128253|zinc_finger_region:RING-type|ENST00000248980|protein_coding|1/2|c.239G>A||||||,T|sequence_feature|LOW|RFPL2|ENSG00000128253|zinc_finger_region:RING-type|ENST00000248983|protein_coding|3/4|c.152G>A||||||,T|non_coding_exon_variant|MODIFIER|RFPL2|ENSG00000128253|transcript|ENST00000489846|processed_transcript|1/2|n.366G>A|||||| 22 32589034 . T C . . ANN=C|synonymous_variant|LOW|RFPL2|ENSG00000128253|transcript|ENST00000400237|protein_coding|4/5|c.411A>G|p.Leu137Leu|1347/2407|411/1137|137/378||,C|synonymous_variant|LOW|RFPL2|ENSG00000128253|transcript|ENST00000248980|protein_coding|1/2|c.228A>G|p.Leu76Leu|433/1496|228/954|76/317||,C|synonymous_variant|LOW|RFPL2|ENSG00000128253|transcript|ENST00000400236|protein_coding|4/5|c.141A>G|p.Leu47Leu|1347/2410|141/867|47/288||,C|synonymous_variant|LOW|RFPL2|ENSG00000128253|transcript|ENST00000248983|protein_coding|3/4|c.141A>G|p.Leu47Leu|389/1452|141/867|47/288||,C|sequence_feature|LOW|RFPL2|ENSG00000128253|zinc_finger_region:RING-type|ENST00000400237|protein_coding|4/5|c.411A>G||||||,C|sequence_feature|LOW|RFPL2|ENSG00000128253|zinc_finger_region:RING-type|ENST00000248980|protein_coding|1/2|c.228A>G||||||,C|sequence_feature|LOW|RFPL2|ENSG00000128253|zinc_finger_region:RING-type|ENST00000248983|protein_coding|3/4|c.141A>G||||||,C|non_coding_exon_variant|MODIFIER|RFPL2|ENSG00000128253|transcript|ENST00000489846|processed_transcript|1/2|n.355A>G|||||| 22 32614464 . T G . . ANN=G|downstream_gene_variant|MODIFIER|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding||c.*1992A>C|||||1|,G|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+11201T>G|||||| 22 32614536 . C T . . ANN=T|missense_variant|MODERATE|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|15/15|c.1945G>A|p.Ala649Thr|1957/2028|1945/1980|649/659||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|transmembrane_region:Transmembrane_region|ENST00000266086|protein_coding|15/15|c.1945G>A||||||,T|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+11273C>T|||||| 22 32614694 . C T . . ANN=T|missense_variant|MODERATE|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|15/15|c.1787G>A|p.Arg596His|1799/2028|1787/1980|596/659||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|13/15|c.1787G>A||||||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|14/15|c.1787G>A||||||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|15/15|c.1787G>A||||||,T|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+11431C>T|||||| 22 32614712 . T C . . ANN=C|missense_variant&splice_region_variant|MODERATE|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|15/15|c.1769A>G|p.Asp590Gly|1781/2028|1769/1980|590/659||,C|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|13/15|c.1769A>G||||||,C|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|14/15|c.1769A>G||||||,C|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|15/15|c.1769A>G||||||,C|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+11449T>C|||||| 22 32614713 . C T . . ANN=T|splice_acceptor_variant&intron_variant|HIGH|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|14/14|c.1769-1G>A||||||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|13/15|c.1769-1G>A||||||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|14/15|c.1769-1G>A||||||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|15/15|c.1769-1G>A||||||,T|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+11450C>T||||||;LOF=(SLC5A4|ENSG00000100191|1|1.00) 22 32616864 . C T . . ANN=T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|13/15|c.1768+43G>A||||||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|14/15|c.1768+43G>A||||||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|15/15|c.1768+43G>A||||||,T|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+13601C>T||||||,T|intron_variant|MODIFIER|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|14/14|c.1768+43G>A|||||| 22 32616870 . G A . . ANN=A|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|13/15|c.1768+37C>T||||||,A|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|14/15|c.1768+37C>T||||||,A|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|15/15|c.1768+37C>T||||||,A|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+13607G>A||||||,A|intron_variant|MODIFIER|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|14/14|c.1768+37C>T|||||| 22 32616967 . G A . . ANN=A|stop_gained|HIGH|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|14/15|c.1708C>T|p.Arg570*|1720/2028|1708/1980|570/659||,A|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|13/15|c.1708C>T||||||,A|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|14/15|c.1708C>T||||||,A|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|15/15|c.1708C>T||||||,A|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+13704G>A||||||;LOF=(SLC5A4|ENSG00000100191|1|1.00);NMD=(SLC5A4|ENSG00000100191|1|1.00) 22 32616971 . C T . . ANN=T|synonymous_variant|LOW|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|14/15|c.1704G>A|p.Glu568Glu|1716/2028|1704/1980|568/659||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|13/15|c.1704G>A||||||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|14/15|c.1704G>A||||||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|15/15|c.1704G>A||||||,T|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+13708C>T|||||| 22 32616985 . G A . . ANN=A|missense_variant|MODERATE|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|14/15|c.1690C>T|p.Arg564Trp|1702/2028|1690/1980|564/659||,A|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|13/15|c.1690C>T||||||,A|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|14/15|c.1690C>T||||||,A|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|15/15|c.1690C>T||||||,A|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+13722G>A|||||| 22 32617002 . C T . . ANN=T|missense_variant|MODERATE|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|14/15|c.1673G>A|p.Arg558His|1685/2028|1673/1980|558/659||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|13/15|c.1673G>A||||||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|14/15|c.1673G>A||||||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|15/15|c.1673G>A||||||,T|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+13739C>T|||||| 22 32620322 . G A . . ANN=A|missense_variant|MODERATE|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|13/15|c.1597C>T|p.Leu533Phe|1609/2028|1597/1980|533/659||,A|sequence_feature|LOW|SLC5A4|ENSG00000100191|transmembrane_region:Transmembrane_region|ENST00000266086|protein_coding|13/15|c.1597C>T||||||,A|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+17059G>A|||||| 22 32620349 . C T . . ANN=T|missense_variant|MODERATE|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|13/15|c.1570G>A|p.Val524Met|1582/2028|1570/1980|524/659||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|13/15|c.1570G>A||||||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|12/15|c.1570G>A||||||,T|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+17086C>T|||||| 22 32621619 . C T . . ANN=T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|13/15|c.1449+23G>A||||||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|12/15|c.1449+23G>A||||||,T|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+18356C>T||||||,T|intron_variant|MODIFIER|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|12/14|c.1449+23G>A|||||| 22 32621730 . T C . . ANN=C|missense_variant|MODERATE|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|12/15|c.1361A>G|p.His454Arg|1373/2028|1361/1980|454/659||,C|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|12/15|c.1361A>G||||||,C|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+18467T>C|||||| 22 32621731 . G A . . ANN=A|missense_variant|MODERATE|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|12/15|c.1360C>T|p.His454Tyr|1372/2028|1360/1980|454/659||,A|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|12/15|c.1360C>T||||||,A|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+18468G>A|||||| 22 32625151 . G A . . ANN=A|sequence_feature|LOW|SLC5A4|ENSG00000100191|transmembrane_region:Transmembrane_region|ENST00000266086|protein_coding|11/15|c.1280+30C>T||||||,A|sequence_feature|LOW|SLC5A4|ENSG00000100191|transmembrane_region:Transmembrane_region|ENST00000266086|protein_coding|12/15|c.1280+30C>T||||||,A|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+21888G>A||||||,A|intron_variant|MODIFIER|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|11/14|c.1280+30C>T|||||| 22 32625163 . G T . . ANN=T|sequence_feature|LOW|SLC5A4|ENSG00000100191|transmembrane_region:Transmembrane_region|ENST00000266086|protein_coding|11/15|c.1280+18C>A||||||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|transmembrane_region:Transmembrane_region|ENST00000266086|protein_coding|12/15|c.1280+18C>A||||||,T|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+21900G>T||||||,T|intron_variant|MODIFIER|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|11/14|c.1280+18C>A|||||| 22 32625208 . G A . . ANN=A|missense_variant|MODERATE|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|11/15|c.1253C>T|p.Ser418Leu|1265/2028|1253/1980|418/659||,A|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|10/15|c.1253C>T||||||,A|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|11/15|c.1253C>T||||||,A|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|9/15|c.1253C>T||||||,A|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+21945G>A|||||| 22 32625210 . C T . . ANN=T|synonymous_variant|LOW|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|11/15|c.1251G>A|p.Ala417Ala|1263/2028|1251/1980|417/659||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|10/15|c.1251G>A||||||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|11/15|c.1251G>A||||||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|9/15|c.1251G>A||||||,T|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+21947C>T|||||| 22 32625260 . C T . . ANN=T|missense_variant|MODERATE|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|11/15|c.1201G>A|p.Ala401Thr|1213/2028|1201/1980|401/659||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|10/15|c.1201G>A||||||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|11/15|c.1201G>A||||||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|9/15|c.1201G>A||||||,T|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+21997C>T|||||| 22 32625297 . G A . . ANN=A|synonymous_variant|LOW|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|11/15|c.1164C>T|p.Ala388Ala|1176/2028|1164/1980|388/659||,A|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|10/15|c.1164C>T||||||,A|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|11/15|c.1164C>T||||||,A|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|9/15|c.1164C>T||||||,A|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+22034G>A|||||| 22 32625347 . G A . . ANN=A|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|10/15|c.1130-16C>T||||||,A|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|11/15|c.1130-16C>T||||||,A|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|9/15|c.1130-16C>T||||||,A|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+22084G>A||||||,A|intron_variant|MODIFIER|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|10/14|c.1130-16C>T|||||| 22 32625352 . A G . . ANN=G|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|10/15|c.1130-21T>C||||||,G|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|11/15|c.1130-21T>C||||||,G|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|9/15|c.1130-21T>C||||||,G|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+22089A>G||||||,G|intron_variant|MODIFIER|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|10/14|c.1130-21T>C|||||| 22 32626908 . G A . . ANN=A|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|10/15|c.1129+47C>T||||||,A|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|11/15|c.1129+47C>T||||||,A|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|9/15|c.1129+47C>T||||||,A|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+23645G>A||||||,A|intron_variant|MODIFIER|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|10/14|c.1129+47C>T|||||| 22 32627045 . C CCA . . ANN=CA|frameshift_variant|HIGH|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|10/15|c.1037_1038dupTG|p.Val347fs|1050/2028|1038/1980|346/659||,CA|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|10/15|c.1037_1038dupTG||||||,CA|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|11/15|c.1037_1038dupTG||||||,CA|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|9/15|c.1037_1038dupTG||||||,CA|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+23787_274+23788dupCA||||||INFO_REALIGN_3_PRIME;LOF=(SLC5A4|ENSG00000100191|1|1.00) 22 32628870 . C T . . ANN=T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|10/15|c.1021+16G>A||||||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|11/15|c.1021+16G>A||||||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|9/15|c.1021+16G>A||||||,T|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+25607C>T||||||,T|intron_variant|MODIFIER|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|9/14|c.1021+16G>A|||||| 22 32628900 . C T . . ANN=T|missense_variant|MODERATE|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|9/15|c.1007G>A|p.Arg336His|1019/2028|1007/1980|336/659||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|10/15|c.1007G>A||||||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|11/15|c.1007G>A||||||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|9/15|c.1007G>A||||||,T|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+25637C>T|||||| 22 32628961 . T A . . ANN=A|missense_variant|MODERATE|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|9/15|c.946A>T|p.Met316Leu|958/2028|946/1980|316/659||,A|sequence_feature|LOW|SLC5A4|ENSG00000100191|transmembrane_region:Transmembrane_region|ENST00000266086|protein_coding|9/15|c.946A>T||||||,A|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+25698T>A|||||| 22 32629008 . C T . . ANN=T|missense_variant|MODERATE|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|9/15|c.899G>A|p.Arg300His|911/2028|899/1980|300/659||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|8/15|c.899G>A||||||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|9/15|c.899G>A||||||,T|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+25745C>T|||||| 22 32629026 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|8/14|c.886-5G>A||||||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|8/15|c.886-5G>A||||||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|9/15|c.886-5G>A||||||,T|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+25763C>T|||||| 22 32629034 . C T . . ANN=T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|8/15|c.886-13G>A||||||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|9/15|c.886-13G>A||||||,T|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+25771C>T||||||,T|intron_variant|MODIFIER|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|8/14|c.886-13G>A|||||| 22 32629046 . A T . . ANN=T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|8/15|c.886-25T>A||||||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|9/15|c.886-25T>A||||||,T|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+25783A>T||||||,T|intron_variant|MODIFIER|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|8/14|c.886-25T>A|||||| 22 32630812 . CACAG C . . ANN=|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|8/15|c.885+44_885+47delCTGT||||||,|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|9/15|c.885+44_885+47delCTGT||||||,|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+27573_274+27576delGACA||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|8/14|c.885+44_885+47delCTGT|||||| 22 32630851 . A G . . ANN=G|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|8/15|c.885+9T>C||||||,G|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|9/15|c.885+9T>C||||||,G|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+27588A>G||||||,G|intron_variant|MODIFIER|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|8/14|c.885+9T>C|||||| 22 32630883 . A G . . ANN=G|synonymous_variant|LOW|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|8/15|c.862T>C|p.Leu288Leu|874/2028|862/1980|288/659||,G|sequence_feature|LOW|SLC5A4|ENSG00000100191|transmembrane_region:Transmembrane_region|ENST00000266086|protein_coding|8/15|c.862T>C||||||,G|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+27620A>G|||||| 22 32630898 . T C . . ANN=C|missense_variant|MODERATE|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|8/15|c.847A>G|p.Met283Val|859/2028|847/1980|283/659||,C|sequence_feature|LOW|SLC5A4|ENSG00000100191|transmembrane_region:Transmembrane_region|ENST00000266086|protein_coding|8/15|c.847A>G||||||,C|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+27635T>C|||||| 22 32630946 . G A . . ANN=A|stop_gained|HIGH|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|8/15|c.799C>T|p.Arg267*|811/2028|799/1980|267/659||,A|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|8/15|c.799C>T||||||,A|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+27683G>A||||||;LOF=(SLC5A4|ENSG00000100191|1|1.00);NMD=(SLC5A4|ENSG00000100191|1|1.00) 22 32630990 . C T . . ANN=T|missense_variant|MODERATE|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|8/15|c.755G>A|p.Ser252Asn|767/2028|755/1980|252/659||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|8/15|c.755G>A||||||,T|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+27727C>T|||||| 22 32631018 . C T . . ANN=T|missense_variant|MODERATE|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|8/15|c.727G>A|p.Val243Ile|739/2028|727/1980|243/659||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|8/15|c.727G>A||||||,T|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+27755C>T|||||| 22 32631081 . C T . . ANN=T|splice_acceptor_variant&intron_variant|HIGH|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|7/14|c.665-1G>A||||||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|transmembrane_region:Transmembrane_region|ENST00000266086|protein_coding|8/15|c.665-1G>A||||||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|transmembrane_region:Transmembrane_region|ENST00000266086|protein_coding|7/15|c.665-1G>A||||||,T|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+27818C>T||||||;LOF=(SLC5A4|ENSG00000100191|1|1.00) 22 32633317 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|6/14|c.584-6C>T||||||,A|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|6/15|c.584-6C>T||||||,A|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|7/15|c.584-6C>T||||||,A|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+30054G>A|||||| 22 32634941 . C A . . ANN=A|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|6/15|c.583+31G>T||||||,A|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|7/15|c.583+31G>T||||||,A|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.275-29334C>A||||||,A|intron_variant|MODIFIER|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|6/14|c.583+31G>T|||||| 22 32634951 . C T . . ANN=T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|6/15|c.583+21G>A||||||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|7/15|c.583+21G>A||||||,T|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.275-29324C>T||||||,T|intron_variant|MODIFIER|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|6/14|c.583+21G>A|||||| 22 32635113 . G A . . ANN=A|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|6/15|c.478-36C>T||||||,A|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|5/15|c.478-36C>T||||||,A|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.275-29162G>A||||||,A|intron_variant|MODIFIER|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|5/14|c.478-36C>T|||||| 22 32635119 . G T . . ANN=T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|6/15|c.478-42C>A||||||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|5/15|c.478-42C>A||||||,T|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.275-29156G>T||||||,T|intron_variant|MODIFIER|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|5/14|c.478-42C>A|||||| 22 32643354 . G C . . ANN=C|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|6/15|c.477+44C>G||||||,C|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|5/15|c.477+44C>G||||||,C|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.275-20921G>C||||||,C|intron_variant|MODIFIER|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|5/14|c.477+44C>G|||||| 22 32643357 . C G . . ANN=G|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|6/15|c.477+41G>C||||||,G|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|5/15|c.477+41G>C||||||,G|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.275-20918C>G||||||,G|intron_variant|MODIFIER|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|5/14|c.477+41G>C|||||| 22 32643425 . G A . . ANN=A|synonymous_variant|LOW|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|5/15|c.450C>T|p.Leu150Leu|462/2028|450/1980|150/659||,A|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|6/15|c.450C>T||||||,A|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|5/15|c.450C>T||||||,A|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.275-20850G>A|||||| 22 32643447 . AC A . . ANN=|frameshift_variant|HIGH|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|5/15|c.427delG|p.Val143fs|439/2028|427/1980|143/659||,|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|6/15|c.427delG||||||,|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|5/15|c.427delG||||||,|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.275-20826delC||||||INFO_REALIGN_3_PRIME;LOF=(SLC5A4|ENSG00000100191|1|1.00) 22 32643460 . C A . . ANN=A|stop_gained|HIGH|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|5/15|c.415G>T|p.Glu139*|427/2028|415/1980|139/659||,A|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|6/15|c.415G>T||||||,A|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|5/15|c.415G>T||||||,A|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.275-20815C>A||||||;LOF=(SLC5A4|ENSG00000100191|1|1.00);NMD=(SLC5A4|ENSG00000100191|1|1.00) 22 32643471 . C T . . ANN=T|missense_variant|MODERATE|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|5/15|c.404G>A|p.Arg135Gln|416/2028|404/1980|135/659||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|6/15|c.404G>A||||||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|5/15|c.404G>A||||||,T|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.275-20804C>T|||||| 22 32643537 . C T . . ANN=T|sequence_feature|LOW|SLC5A4|ENSG00000100191|transmembrane_region:Transmembrane_region|ENST00000266086|protein_coding|5/15|c.373-35G>A||||||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|transmembrane_region:Transmembrane_region|ENST00000266086|protein_coding|4/15|c.373-35G>A||||||,T|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.275-20738C>T||||||,T|intron_variant|MODIFIER|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|4/14|c.373-35G>A|||||| 22 32647763 . T A . . ANN=A|missense_variant|MODERATE|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|3/15|c.306A>T|p.Glu102Asp|318/2028|306/1980|102/659||,A|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|4/15|c.306A>T||||||,A|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|3/15|c.306A>T||||||,A|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.275-16512T>A|||||| 22 32647802 . C T . . ANN=T|synonymous_variant|LOW|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|3/15|c.267G>A|p.Gly89Gly|279/2028|267/1980|89/659||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|4/15|c.267G>A||||||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|3/15|c.267G>A||||||,T|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.275-16473C>T|||||| 22 32647831 . C T . . ANN=T|missense_variant|MODERATE|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|3/15|c.238G>A|p.Gly80Ser|250/2028|238/1980|80/659||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|transmembrane_region:Transmembrane_region|ENST00000266086|protein_coding|2/15|c.238G>A||||||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|transmembrane_region:Transmembrane_region|ENST00000266086|protein_coding|3/15|c.238G>A||||||,T|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.275-16444C>T|||||| 22 32647832 . G A . . ANN=A|synonymous_variant|LOW|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|3/15|c.237C>T|p.Ile79Ile|249/2028|237/1980|79/659||,A|sequence_feature|LOW|SLC5A4|ENSG00000100191|transmembrane_region:Transmembrane_region|ENST00000266086|protein_coding|2/15|c.237C>T||||||,A|sequence_feature|LOW|SLC5A4|ENSG00000100191|transmembrane_region:Transmembrane_region|ENST00000266086|protein_coding|3/15|c.237C>T||||||,A|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.275-16443G>A|||||| 22 32647857 . C T . . ANN=T|missense_variant|MODERATE|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|3/15|c.212G>A|p.Gly71Asp|224/2028|212/1980|71/659||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|transmembrane_region:Transmembrane_region|ENST00000266086|protein_coding|2/15|c.212G>A||||||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|transmembrane_region:Transmembrane_region|ENST00000266086|protein_coding|3/15|c.212G>A||||||,T|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.275-16418C>T|||||| 22 32650106 . C T . . ANN=T|sequence_feature|LOW|SLC5A4|ENSG00000100191|transmembrane_region:Transmembrane_region|ENST00000266086|protein_coding|2/15|c.207+23G>A||||||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|transmembrane_region:Transmembrane_region|ENST00000266086|protein_coding|3/15|c.207+23G>A||||||,T|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.275-14169C>T||||||,T|intron_variant|MODIFIER|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|2/14|c.207+23G>A|||||| 22 32650107 . C T . . ANN=T|sequence_feature|LOW|SLC5A4|ENSG00000100191|transmembrane_region:Transmembrane_region|ENST00000266086|protein_coding|2/15|c.207+22G>A||||||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|transmembrane_region:Transmembrane_region|ENST00000266086|protein_coding|3/15|c.207+22G>A||||||,T|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.275-14168C>T||||||,T|intron_variant|MODIFIER|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|2/14|c.207+22G>A|||||| 22 32650182 . G A . . ANN=A|stop_gained|HIGH|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|2/15|c.154C>T|p.Arg52*|166/2028|154/1980|52/659||,A|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|2/15|c.154C>T||||||,A|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.275-14093G>A||||||;LOF=(SLC5A4|ENSG00000100191|1|1.00);NMD=(SLC5A4|ENSG00000100191|1|1.00) 22 32650200 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|2/15|c.136G>A|p.Ala46Thr|148/2028|136/1980|46/659||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|transmembrane_region:Transmembrane_region|ENST00000266086|protein_coding|2/15|c.136G>A||||||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|transmembrane_region:Transmembrane_region|ENST00000266086|protein_coding|1/15|c.136G>A||||||,T|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.275-14075C>T|||||| 22 32651143 . C A . . ANN=A|sequence_feature|LOW|SLC5A4|ENSG00000100191|transmembrane_region:Transmembrane_region|ENST00000266086|protein_coding|2/15|c.135+39G>T||||||,A|sequence_feature|LOW|SLC5A4|ENSG00000100191|transmembrane_region:Transmembrane_region|ENST00000266086|protein_coding|1/15|c.135+39G>T||||||,A|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.275-13132C>A||||||,A|intron_variant|MODIFIER|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|1/14|c.135+39G>T|||||| 22 32651198 . A T . . ANN=T|missense_variant|MODERATE|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|1/15|c.119T>A|p.Met40Lys|131/2028|119/1980|40/659||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|transmembrane_region:Transmembrane_region|ENST00000266086|protein_coding|2/15|c.119T>A||||||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|transmembrane_region:Transmembrane_region|ENST00000266086|protein_coding|1/15|c.119T>A||||||,T|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.275-13077A>T|||||| 22 32651226 . C T . . ANN=T|missense_variant|MODERATE|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|1/15|c.91G>A|p.Val31Ile|103/2028|91/1980|31/659||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|transmembrane_region:Transmembrane_region|ENST00000266086|protein_coding|2/15|c.91G>A||||||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|transmembrane_region:Transmembrane_region|ENST00000266086|protein_coding|1/15|c.91G>A||||||,T|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.275-13049C>T|||||| 22 32651238 . C T . . ANN=T|missense_variant|MODERATE|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|1/15|c.79G>A|p.Ala27Thr|91/2028|79/1980|27/659||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|1/15|c.79G>A||||||,T|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.275-13037C>T|||||| 22 32651262 . A G . . ANN=G|synonymous_variant|LOW|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|1/15|c.55T>C|p.Leu19Leu|67/2028|55/1980|19/659||,G|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|1/15|c.55T>C||||||,G|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.275-13013A>G|||||| 22 32651295 . T A . . ANN=A|missense_variant|MODERATE|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|1/15|c.22A>T|p.Ser8Cys|34/2028|22/1980|8/659||,A|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|1/15|c.22A>T||||||,A|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.275-12980T>A|||||| 22 32651306 . G A . . ANN=A|missense_variant|MODERATE|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|1/15|c.11C>T|p.Thr4Met|23/2028|11/1980|4/659||,A|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|1/15|c.11C>T||||||,A|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.275-12969G>A|||||| 22 32651345 . C T . . ANN=T|upstream_gene_variant|MODIFIER|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding||c.-13G>A|||||17|,T|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.275-12930C>T|||||| 22 32754014 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|RFPL3|ENSG00000128276|transcript|ENST00000249007|protein_coding|1/2|c.-45G>A|||||45|,A|upstream_gene_variant|MODIFIER|IGLCOR22-2|ENSG00000271093|transcript|ENST00000605398|IG_C_pseudogene||n.-1C>T|||||1039|,A|upstream_gene_variant|MODIFIER|RFPL3|ENSG00000128276|transcript|ENST00000382088|protein_coding||c.-8G>A|||||125|,A|downstream_gene_variant|MODIFIER|RFPL3S|ENSG00000205853|transcript|ENST00000400234|protein_coding||c.*447C>T|||||1879|,A|downstream_gene_variant|MODIFIER|RFPL3S|ENSG00000205853|transcript|ENST00000382084|protein_coding||c.*269C>T|||||1879|,A|downstream_gene_variant|MODIFIER|RFPL3S|ENSG00000205853|transcript|ENST00000461833|processed_transcript||n.*334C>T|||||2625|,A|downstream_gene_variant|MODIFIER|RFPL3S|ENSG00000205853|transcript|ENST00000382086|protein_coding||c.*304C>T|||||4774|,A|downstream_gene_variant|MODIFIER|RFPL3S|ENSG00000205853|transcript|ENST00000577714|protein_coding||c.*489C>T|||||4947|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|RFPL3|ENSG00000128276|transcript|ENST00000397468|protein_coding|1/2|c.-5-127G>A|||||| 22 32754286 . G A . . ANN=A|synonymous_variant|LOW|RFPL3|ENSG00000128276|transcript|ENST00000249007|protein_coding|1/2|c.228G>A|p.Leu76Leu|433/1488|228/954|76/317||,A|synonymous_variant|LOW|RFPL3|ENSG00000128276|transcript|ENST00000397468|protein_coding|2/3|c.141G>A|p.Leu47Leu|159/1214|141/867|47/288||,A|synonymous_variant|LOW|RFPL3|ENSG00000128276|transcript|ENST00000382088|protein_coding|1/2|c.141G>A|p.Leu47Leu|148/1203|141/867|47/288||,A|sequence_feature|LOW|RFPL3|ENSG00000128276|zinc_finger_region:RING-type|ENST00000249007|protein_coding|1/2|c.228G>A||||||,A|sequence_feature|LOW|RFPL3|ENSG00000128276|zinc_finger_region:RING-type|ENST00000382088|protein_coding|1/2|c.141G>A||||||,A|upstream_gene_variant|MODIFIER|IGLCOR22-2|ENSG00000271093|transcript|ENST00000605398|IG_C_pseudogene||n.-1C>T|||||1311|,A|downstream_gene_variant|MODIFIER|RFPL3S|ENSG00000205853|transcript|ENST00000400234|protein_coding||c.*447C>T|||||1607|,A|downstream_gene_variant|MODIFIER|RFPL3S|ENSG00000205853|transcript|ENST00000382084|protein_coding||c.*269C>T|||||1607|,A|downstream_gene_variant|MODIFIER|RFPL3S|ENSG00000205853|transcript|ENST00000461833|processed_transcript||n.*334C>T|||||2353|,A|downstream_gene_variant|MODIFIER|RFPL3S|ENSG00000205853|transcript|ENST00000382086|protein_coding||c.*304C>T|||||4502|,A|downstream_gene_variant|MODIFIER|RFPL3S|ENSG00000205853|transcript|ENST00000577714|protein_coding||c.*489C>T|||||4675|WARNING_TRANSCRIPT_INCOMPLETE 22 32754382 . C G . . ANN=G|synonymous_variant|LOW|RFPL3|ENSG00000128276|transcript|ENST00000249007|protein_coding|1/2|c.324C>G|p.Pro108Pro|529/1488|324/954|108/317||,G|synonymous_variant|LOW|RFPL3|ENSG00000128276|transcript|ENST00000397468|protein_coding|2/3|c.237C>G|p.Pro79Pro|255/1214|237/867|79/288||,G|synonymous_variant|LOW|RFPL3|ENSG00000128276|transcript|ENST00000382088|protein_coding|1/2|c.237C>G|p.Pro79Pro|244/1203|237/867|79/288||,G|sequence_feature|LOW|RFPL3|ENSG00000128276|domain:B30.2/SPRY|ENST00000249007|protein_coding|1/2|c.324C>G||||||,G|sequence_feature|LOW|RFPL3|ENSG00000128276|domain:B30.2/SPRY|ENST00000249007|protein_coding|2/2|c.324C>G||||||,G|sequence_feature|LOW|RFPL3|ENSG00000128276|domain:B30.2/SPRY|ENST00000382088|protein_coding|1/2|c.237C>G||||||,G|sequence_feature|LOW|RFPL3|ENSG00000128276|domain:B30.2/SPRY|ENST00000382088|protein_coding|2/2|c.237C>G||||||,G|upstream_gene_variant|MODIFIER|IGLCOR22-2|ENSG00000271093|transcript|ENST00000605398|IG_C_pseudogene||n.-1G>C|||||1407|,G|downstream_gene_variant|MODIFIER|RFPL3S|ENSG00000205853|transcript|ENST00000400234|protein_coding||c.*447G>C|||||1511|,G|downstream_gene_variant|MODIFIER|RFPL3S|ENSG00000205853|transcript|ENST00000382084|protein_coding||c.*269G>C|||||1511|,G|downstream_gene_variant|MODIFIER|RFPL3S|ENSG00000205853|transcript|ENST00000461833|processed_transcript||n.*334G>C|||||2257|,G|downstream_gene_variant|MODIFIER|RFPL3S|ENSG00000205853|transcript|ENST00000382086|protein_coding||c.*304G>C|||||4406|,G|downstream_gene_variant|MODIFIER|RFPL3S|ENSG00000205853|transcript|ENST00000577714|protein_coding||c.*489G>C|||||4579|WARNING_TRANSCRIPT_INCOMPLETE 22 32754386 . C A . . ANN=A|missense_variant|MODERATE|RFPL3|ENSG00000128276|transcript|ENST00000249007|protein_coding|1/2|c.328C>A|p.Leu110Met|533/1488|328/954|110/317||,A|missense_variant|MODERATE|RFPL3|ENSG00000128276|transcript|ENST00000397468|protein_coding|2/3|c.241C>A|p.Leu81Met|259/1214|241/867|81/288||,A|missense_variant|MODERATE|RFPL3|ENSG00000128276|transcript|ENST00000382088|protein_coding|1/2|c.241C>A|p.Leu81Met|248/1203|241/867|81/288||,A|sequence_feature|LOW|RFPL3|ENSG00000128276|domain:B30.2/SPRY|ENST00000249007|protein_coding|1/2|c.328C>A||||||,A|sequence_feature|LOW|RFPL3|ENSG00000128276|domain:B30.2/SPRY|ENST00000249007|protein_coding|2/2|c.328C>A||||||,A|sequence_feature|LOW|RFPL3|ENSG00000128276|domain:B30.2/SPRY|ENST00000382088|protein_coding|1/2|c.241C>A||||||,A|sequence_feature|LOW|RFPL3|ENSG00000128276|domain:B30.2/SPRY|ENST00000382088|protein_coding|2/2|c.241C>A||||||,A|upstream_gene_variant|MODIFIER|IGLCOR22-2|ENSG00000271093|transcript|ENST00000605398|IG_C_pseudogene||n.-1G>T|||||1411|,A|downstream_gene_variant|MODIFIER|RFPL3S|ENSG00000205853|transcript|ENST00000400234|protein_coding||c.*447G>T|||||1507|,A|downstream_gene_variant|MODIFIER|RFPL3S|ENSG00000205853|transcript|ENST00000382084|protein_coding||c.*269G>T|||||1507|,A|downstream_gene_variant|MODIFIER|RFPL3S|ENSG00000205853|transcript|ENST00000461833|processed_transcript||n.*334G>T|||||2253|,A|downstream_gene_variant|MODIFIER|RFPL3S|ENSG00000205853|transcript|ENST00000382086|protein_coding||c.*304G>T|||||4402|,A|downstream_gene_variant|MODIFIER|RFPL3S|ENSG00000205853|transcript|ENST00000577714|protein_coding||c.*489G>T|||||4575|WARNING_TRANSCRIPT_INCOMPLETE 22 32754419 . C T . . ANN=T|missense_variant|MODERATE|RFPL3|ENSG00000128276|transcript|ENST00000249007|protein_coding|1/2|c.361C>T|p.Arg121Trp|566/1488|361/954|121/317||,T|missense_variant|MODERATE|RFPL3|ENSG00000128276|transcript|ENST00000397468|protein_coding|2/3|c.274C>T|p.Arg92Trp|292/1214|274/867|92/288||,T|missense_variant|MODERATE|RFPL3|ENSG00000128276|transcript|ENST00000382088|protein_coding|1/2|c.274C>T|p.Arg92Trp|281/1203|274/867|92/288||,T|sequence_feature|LOW|RFPL3|ENSG00000128276|domain:B30.2/SPRY|ENST00000249007|protein_coding|1/2|c.361C>T||||||,T|sequence_feature|LOW|RFPL3|ENSG00000128276|domain:B30.2/SPRY|ENST00000249007|protein_coding|2/2|c.361C>T||||||,T|sequence_feature|LOW|RFPL3|ENSG00000128276|domain:B30.2/SPRY|ENST00000382088|protein_coding|1/2|c.274C>T||||||,T|sequence_feature|LOW|RFPL3|ENSG00000128276|domain:B30.2/SPRY|ENST00000382088|protein_coding|2/2|c.274C>T||||||,T|upstream_gene_variant|MODIFIER|IGLCOR22-2|ENSG00000271093|transcript|ENST00000605398|IG_C_pseudogene||n.-1G>A|||||1444|,T|downstream_gene_variant|MODIFIER|RFPL3S|ENSG00000205853|transcript|ENST00000400234|protein_coding||c.*447G>A|||||1474|,T|downstream_gene_variant|MODIFIER|RFPL3S|ENSG00000205853|transcript|ENST00000382084|protein_coding||c.*269G>A|||||1474|,T|downstream_gene_variant|MODIFIER|RFPL3S|ENSG00000205853|transcript|ENST00000461833|processed_transcript||n.*334G>A|||||2220|,T|downstream_gene_variant|MODIFIER|RFPL3S|ENSG00000205853|transcript|ENST00000382086|protein_coding||c.*304G>A|||||4369|,T|downstream_gene_variant|MODIFIER|RFPL3S|ENSG00000205853|transcript|ENST00000577714|protein_coding||c.*489G>A|||||4542|WARNING_TRANSCRIPT_INCOMPLETE 22 32754453 . C A . . ANN=A|sequence_feature|LOW|RFPL3|ENSG00000128276|domain:B30.2/SPRY|ENST00000249007|protein_coding|1/2|c.373+22C>A||||||,A|sequence_feature|LOW|RFPL3|ENSG00000128276|domain:B30.2/SPRY|ENST00000249007|protein_coding|2/2|c.373+22C>A||||||,A|sequence_feature|LOW|RFPL3|ENSG00000128276|domain:B30.2/SPRY|ENST00000382088|protein_coding|1/2|c.286+22C>A||||||,A|sequence_feature|LOW|RFPL3|ENSG00000128276|domain:B30.2/SPRY|ENST00000382088|protein_coding|2/2|c.286+22C>A||||||,A|upstream_gene_variant|MODIFIER|IGLCOR22-2|ENSG00000271093|transcript|ENST00000605398|IG_C_pseudogene||n.-1G>T|||||1478|,A|downstream_gene_variant|MODIFIER|RFPL3S|ENSG00000205853|transcript|ENST00000400234|protein_coding||c.*447G>T|||||1440|,A|downstream_gene_variant|MODIFIER|RFPL3S|ENSG00000205853|transcript|ENST00000382084|protein_coding||c.*269G>T|||||1440|,A|downstream_gene_variant|MODIFIER|RFPL3S|ENSG00000205853|transcript|ENST00000461833|processed_transcript||n.*334G>T|||||2186|,A|downstream_gene_variant|MODIFIER|RFPL3S|ENSG00000205853|transcript|ENST00000382086|protein_coding||c.*304G>T|||||4335|,A|downstream_gene_variant|MODIFIER|RFPL3S|ENSG00000205853|transcript|ENST00000577714|protein_coding||c.*489G>T|||||4508|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|RFPL3|ENSG00000128276|transcript|ENST00000249007|protein_coding|1/1|c.373+22C>A||||||,A|intron_variant|MODIFIER|RFPL3|ENSG00000128276|transcript|ENST00000397468|protein_coding|2/2|c.286+22C>A||||||,A|intron_variant|MODIFIER|RFPL3|ENSG00000128276|transcript|ENST00000382088|protein_coding|1/1|c.286+22C>A|||||| 22 32756241 . G A . . ANN=A|missense_variant&splice_region_variant|MODERATE|RFPL3|ENSG00000128276|transcript|ENST00000249007|protein_coding|2/2|c.376G>A|p.Asp126Asn|581/1488|376/954|126/317||,A|missense_variant&splice_region_variant|MODERATE|RFPL3|ENSG00000128276|transcript|ENST00000397468|protein_coding|3/3|c.289G>A|p.Asp97Asn|307/1214|289/867|97/288||,A|missense_variant&splice_region_variant|MODERATE|RFPL3|ENSG00000128276|transcript|ENST00000382088|protein_coding|2/2|c.289G>A|p.Asp97Asn|296/1203|289/867|97/288||,A|sequence_feature|LOW|RFPL3|ENSG00000128276|domain:B30.2/SPRY|ENST00000249007|protein_coding|1/2|c.376G>A||||||,A|sequence_feature|LOW|RFPL3|ENSG00000128276|domain:B30.2/SPRY|ENST00000249007|protein_coding|2/2|c.376G>A||||||,A|sequence_feature|LOW|RFPL3|ENSG00000128276|domain:B30.2/SPRY|ENST00000382088|protein_coding|1/2|c.289G>A||||||,A|sequence_feature|LOW|RFPL3|ENSG00000128276|domain:B30.2/SPRY|ENST00000382088|protein_coding|2/2|c.289G>A||||||,A|3_prime_UTR_variant|MODIFIER|RFPL3S|ENSG00000205853|transcript|ENST00000400234|protein_coding|5/5|c.*500C>T|||||500|,A|3_prime_UTR_variant|MODIFIER|RFPL3S|ENSG00000205853|transcript|ENST00000382084|protein_coding|4/4|c.*500C>T|||||500|,A|upstream_gene_variant|MODIFIER|IGLCOR22-2|ENSG00000271093|transcript|ENST00000605398|IG_C_pseudogene||n.-1C>T|||||3266|,A|downstream_gene_variant|MODIFIER|RFPL3S|ENSG00000205853|transcript|ENST00000461833|processed_transcript||n.*334C>T|||||398|,A|downstream_gene_variant|MODIFIER|RFPL3S|ENSG00000205853|transcript|ENST00000382086|protein_coding||c.*304C>T|||||2547|,A|downstream_gene_variant|MODIFIER|RFPL3S|ENSG00000205853|transcript|ENST00000577714|protein_coding||c.*489C>T|||||2720|WARNING_TRANSCRIPT_INCOMPLETE 22 32756460 . G C . . ANN=C|missense_variant|MODERATE|RFPL3|ENSG00000128276|transcript|ENST00000249007|protein_coding|2/2|c.595G>C|p.Glu199Gln|800/1488|595/954|199/317||,C|missense_variant|MODERATE|RFPL3|ENSG00000128276|transcript|ENST00000397468|protein_coding|3/3|c.508G>C|p.Glu170Gln|526/1214|508/867|170/288||,C|missense_variant|MODERATE|RFPL3|ENSG00000128276|transcript|ENST00000382088|protein_coding|2/2|c.508G>C|p.Glu170Gln|515/1203|508/867|170/288||,C|sequence_feature|LOW|RFPL3|ENSG00000128276|domain:B30.2/SPRY|ENST00000249007|protein_coding|1/2|c.595G>C||||||,C|sequence_feature|LOW|RFPL3|ENSG00000128276|domain:B30.2/SPRY|ENST00000249007|protein_coding|2/2|c.595G>C||||||,C|sequence_feature|LOW|RFPL3|ENSG00000128276|domain:B30.2/SPRY|ENST00000382088|protein_coding|1/2|c.508G>C||||||,C|sequence_feature|LOW|RFPL3|ENSG00000128276|domain:B30.2/SPRY|ENST00000382088|protein_coding|2/2|c.508G>C||||||,C|3_prime_UTR_variant|MODIFIER|RFPL3S|ENSG00000205853|transcript|ENST00000400234|protein_coding|5/5|c.*281C>G|||||281|,C|3_prime_UTR_variant|MODIFIER|RFPL3S|ENSG00000205853|transcript|ENST00000382084|protein_coding|4/4|c.*281C>G|||||281|,C|upstream_gene_variant|MODIFIER|IGLCOR22-2|ENSG00000271093|transcript|ENST00000605398|IG_C_pseudogene||n.-1C>G|||||3485|,C|downstream_gene_variant|MODIFIER|RFPL3S|ENSG00000205853|transcript|ENST00000461833|processed_transcript||n.*334C>G|||||179|,C|downstream_gene_variant|MODIFIER|RFPL3S|ENSG00000205853|transcript|ENST00000382086|protein_coding||c.*304C>G|||||2328|,C|downstream_gene_variant|MODIFIER|RFPL3S|ENSG00000205853|transcript|ENST00000577714|protein_coding||c.*489C>G|||||2501|WARNING_TRANSCRIPT_INCOMPLETE 22 32756830 . CA C . . ANN=|splice_region_variant&intron_variant|LOW|RFPL3S|ENSG00000205853|transcript|ENST00000400234|protein_coding|4/4|c.212-5delT||||||,|splice_region_variant&intron_variant|LOW|RFPL3S|ENSG00000205853|transcript|ENST00000382084|protein_coding|3/3|c.125-5delT||||||,|splice_region_variant&intron_variant|LOW|RFPL3S|ENSG00000205853|transcript|ENST00000461833|processed_transcript|1/1|n.147-5delT||||||,|3_prime_UTR_variant|MODIFIER|RFPL3|ENSG00000128276|transcript|ENST00000249007|protein_coding|2/2|c.*20delA|||||20|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|RFPL3|ENSG00000128276|transcript|ENST00000397468|protein_coding|3/3|c.*20delA|||||20|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|RFPL3|ENSG00000128276|transcript|ENST00000382088|protein_coding|2/2|c.*20delA|||||20|INFO_REALIGN_3_PRIME,|upstream_gene_variant|MODIFIER|IGLCOR22-2|ENSG00000271093|transcript|ENST00000605398|IG_C_pseudogene||n.-1delT|||||3856|,|downstream_gene_variant|MODIFIER|RFPL3S|ENSG00000205853|transcript|ENST00000382086|protein_coding||c.*304delT|||||1957|,|downstream_gene_variant|MODIFIER|RFPL3S|ENSG00000205853|transcript|ENST00000577714|protein_coding||c.*489delT|||||2130|WARNING_TRANSCRIPT_INCOMPLETE 22 32783940 . G T . . ANN=T|3_prime_UTR_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|12/12|c.*39C>A|||||39|,T|3_prime_UTR_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|8/8|c.*227C>A|||||4367|,T|downstream_gene_variant|MODIFIER|RP1-149A16.3|ENSG00000230736|transcript|ENST00000420171|lincRNA||n.*1558G>T|||||3610|,T|downstream_gene_variant|MODIFIER|RP1-149A16.17|ENSG00000241954|transcript|ENST00000444848|lincRNA||n.*444G>T|||||2322|,T|downstream_gene_variant|MODIFIER|RP1-149A16.16|ENSG00000232218|transcript|ENST00000453679|unprocessed_pseudogene||n.*201G>T|||||1085| 22 32783959 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|12/12|c.*20G>A|||||20|,T|3_prime_UTR_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|8/8|c.*208G>A|||||4348|,T|downstream_gene_variant|MODIFIER|RP1-149A16.3|ENSG00000230736|transcript|ENST00000420171|lincRNA||n.*1558C>T|||||3629|,T|downstream_gene_variant|MODIFIER|RP1-149A16.17|ENSG00000241954|transcript|ENST00000444848|lincRNA||n.*444C>T|||||2341|,T|downstream_gene_variant|MODIFIER|RP1-149A16.16|ENSG00000232218|transcript|ENST00000453679|unprocessed_pseudogene||n.*201C>T|||||1104| 22 32784051 . T C . . ANN=C|synonymous_variant|LOW|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|12/12|c.1446A>G|p.Val482Val|1545/2027|1446/1518|482/505||,C|3_prime_UTR_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|8/8|c.*116A>G|||||4256|,C|downstream_gene_variant|MODIFIER|RP1-149A16.3|ENSG00000230736|transcript|ENST00000420171|lincRNA||n.*1558T>C|||||3721|,C|downstream_gene_variant|MODIFIER|RP1-149A16.17|ENSG00000241954|transcript|ENST00000444848|lincRNA||n.*444T>C|||||2433|,C|downstream_gene_variant|MODIFIER|RP1-149A16.16|ENSG00000232218|transcript|ENST00000453679|unprocessed_pseudogene||n.*201T>C|||||1196| 22 32784127 . AAC A . . ANN=|downstream_gene_variant|MODIFIER|RP1-149A16.3|ENSG00000230736|transcript|ENST00000420171|lincRNA||n.*1558_*1558delAC|||||3798|,|downstream_gene_variant|MODIFIER|RP1-149A16.17|ENSG00000241954|transcript|ENST00000444848|lincRNA||n.*444_*444delAC|||||2510|,|downstream_gene_variant|MODIFIER|RP1-149A16.16|ENSG00000232218|transcript|ENST00000453679|unprocessed_pseudogene||n.*201_*201delAC|||||1273|,|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|11/11|c.1411-43_1411-42delGT||||||,|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|7/7|c.*81-43_*81-42delGT|||||| 22 32788197 . T C . . ANN=C|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|11/11|c.1410+30A>G||||||,C|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|7/7|c.*80+30A>G|||||| 22 32788248 . T A . . ANN=A|synonymous_variant|LOW|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|11/12|c.1389A>T|p.Ser463Ser|1488/2027|1389/1518|463/505||,A|3_prime_UTR_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|7/8|c.*59A>T|||||59| 22 32788264 . G A . . ANN=A|missense_variant|MODERATE|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|11/12|c.1373C>T|p.Ala458Val|1472/2027|1373/1518|458/505||,A|3_prime_UTR_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|7/8|c.*43C>T|||||43| 22 32788393 . A G . . ANN=G|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|10/11|c.1291-47T>C||||||,G|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|6/7|c.489-47T>C|||||| 22 32790036 . G C . . ANN=C|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000498434|retained_intron||n.*536C>G|||||3899|,C|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000476619|processed_transcript||n.*594C>G|||||3993|,C|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000485373|processed_transcript||n.*564C>G|||||3999|,C|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|9/11|c.1180-47C>G||||||,C|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|5/7|c.478-1544C>G|||||| 22 32790972 . G A . . ANN=A|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000498434|retained_intron||n.*536C>T|||||2963|,A|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000476619|processed_transcript||n.*594C>T|||||3057|,A|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000485373|processed_transcript||n.*564C>T|||||3063|,A|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|9/11|c.1179+41C>T||||||,A|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|5/7|c.478-2480C>T|||||| 22 32790981 . C G . . ANN=G|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000498434|retained_intron||n.*536G>C|||||2954|,G|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000476619|processed_transcript||n.*594G>C|||||3048|,G|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000485373|processed_transcript||n.*564G>C|||||3054|,G|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|9/11|c.1179+32G>C||||||,G|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|5/7|c.478-2489G>C|||||| 22 32791003 . A C . . ANN=C|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000498434|retained_intron||n.*536T>G|||||2932|,C|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000476619|processed_transcript||n.*594T>G|||||3026|,C|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000485373|processed_transcript||n.*564T>G|||||3032|,C|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|9/11|c.1179+10T>G||||||,C|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|5/7|c.478-2511T>G|||||| 22 32791057 . G A . . ANN=A|missense_variant|MODERATE|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|9/12|c.1135C>T|p.Arg379Cys|1234/2027|1135/1518|379/505||,A|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000498434|retained_intron||n.*536C>T|||||2878|,A|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000476619|processed_transcript||n.*594C>T|||||2972|,A|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000485373|processed_transcript||n.*564C>T|||||2978|,A|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|5/7|c.478-2565C>T|||||| 22 32791151 . C G . . ANN=G|synonymous_variant|LOW|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|9/12|c.1041G>C|p.Val347Val|1140/2027|1041/1518|347/505||,G|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000498434|retained_intron||n.*536G>C|||||2784|,G|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000476619|processed_transcript||n.*594G>C|||||2878|,G|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000485373|processed_transcript||n.*564G>C|||||2884|,G|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|5/7|c.478-2659G>C|||||| 22 32791195 . C T . . ANN=T|missense_variant|MODERATE|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|9/12|c.997G>A|p.Ala333Thr|1096/2027|997/1518|333/505||,T|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000498434|retained_intron||n.*536G>A|||||2740|,T|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000476619|processed_transcript||n.*594G>A|||||2834|,T|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000485373|processed_transcript||n.*564G>A|||||2840|,T|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|5/7|c.478-2703G>A|||||| 22 32792020 . A G . . ANN=G|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000498434|retained_intron||n.*536T>C|||||1915|,G|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000476619|processed_transcript||n.*594T>C|||||2009|,G|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000485373|processed_transcript||n.*564T>C|||||2015|,G|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|8/11|c.990+41T>C||||||,G|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|5/7|c.478-3528T>C|||||| 22 32792029 . G A . . ANN=A|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000498434|retained_intron||n.*536C>T|||||1906|,A|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000476619|processed_transcript||n.*594C>T|||||2000|,A|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000485373|processed_transcript||n.*564C>T|||||2006|,A|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|8/11|c.990+32C>T||||||,A|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|5/7|c.478-3537C>T|||||| 22 32792056 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|8/11|c.990+5A>G||||||,C|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000498434|retained_intron||n.*536A>G|||||1879|,C|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000476619|processed_transcript||n.*594A>G|||||1973|,C|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000485373|processed_transcript||n.*564A>G|||||1979|,C|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|5/7|c.478-3564A>G|||||| 22 32792065 . C T . . ANN=T|missense_variant|MODERATE|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|8/12|c.986G>A|p.Arg329His|1085/2027|986/1518|329/505||,T|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000498434|retained_intron||n.*536G>A|||||1870|,T|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000476619|processed_transcript||n.*594G>A|||||1964|,T|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000485373|processed_transcript||n.*564G>A|||||1970|,T|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|5/7|c.478-3573G>A|||||| 22 32792151 . G A . . ANN=A|synonymous_variant|LOW|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|8/12|c.900C>T|p.Ser300Ser|999/2027|900/1518|300/505||,A|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000498434|retained_intron||n.*536C>T|||||1784|,A|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000476619|processed_transcript||n.*594C>T|||||1878|,A|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000485373|processed_transcript||n.*564C>T|||||1884|,A|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|5/7|c.478-3659C>T|||||| 22 32792223 . A G . . ANN=G|synonymous_variant|LOW|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|8/12|c.828T>C|p.Ala276Ala|927/2027|828/1518|276/505||,G|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000498434|retained_intron||n.*536T>C|||||1712|,G|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000476619|processed_transcript||n.*594T>C|||||1806|,G|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000485373|processed_transcript||n.*564T>C|||||1812|,G|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|5/7|c.478-3731T>C|||||| 22 32792282 . A G . . ANN=G|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000498434|retained_intron||n.*536T>C|||||1653|,G|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000476619|processed_transcript||n.*594T>C|||||1747|,G|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000485373|processed_transcript||n.*564T>C|||||1753|,G|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|7/11|c.815-46T>C||||||,G|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|5/7|c.478-3790T>C|||||| 22 32794043 . A C . . ANN=C|synonymous_variant|LOW|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|7/12|c.699T>G|p.Val233Val|798/2027|699/1518|233/505||,C|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000487704|retained_intron||n.*767T>G|||||3506|,C|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|5/7|c.477+3711T>G||||||,C|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000498434|retained_intron|2/2|n.428T>G||||||,C|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000476619|processed_transcript|5/5|n.580T>G||||||,C|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000485373|processed_transcript|5/5|n.556T>G|||||| 22 32795578 . A G . . ANN=G|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000487704|retained_intron||n.*767T>C|||||1971|,G|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|6/11|c.654+12T>C||||||,G|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|5/7|c.477+2176T>C||||||,G|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000498434|retained_intron|1/1|n.383+12T>C||||||,G|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000476619|processed_transcript|4/4|n.535+12T>C||||||,G|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000485373|processed_transcript|4/4|n.511+12T>C|||||| 22 32795626 . T C . . ANN=C|sequence_feature|MODERATE|RTCB|ENSG00000100220|cross-link:Glycyl_lysine_isopeptide__Lys-Gly___interchain_with_G-Cter_in_ubiquitin_|ENST00000216038|protein_coding|6/12|c.618A>G||||||,C|synonymous_variant|LOW|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|6/12|c.618A>G|p.Lys206Lys|717/2027|618/1518|206/505||,C|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000487704|retained_intron||n.*767A>G|||||1923|,C|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|5/7|c.477+2128A>G||||||,C|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000498434|retained_intron|1/2|n.347A>G||||||,C|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000476619|processed_transcript|4/5|n.499A>G||||||,C|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000485373|processed_transcript|4/5|n.475A>G|||||| 22 32795641 . C T . . ANN=T|synonymous_variant|LOW|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|6/12|c.603G>A|p.Gln201Gln|702/2027|603/1518|201/505||,T|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000487704|retained_intron||n.*767G>A|||||1908|,T|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|5/7|c.477+2113G>A||||||,T|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000498434|retained_intron|1/2|n.332G>A||||||,T|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000476619|processed_transcript|4/5|n.484G>A||||||,T|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000485373|processed_transcript|4/5|n.460G>A|||||| 22 32795708 . G A . . ANN=A|missense_variant|MODERATE|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|6/12|c.536C>T|p.Ser179Phe|635/2027|536/1518|179/505||,A|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000487704|retained_intron||n.*767C>T|||||1841|,A|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|5/7|c.477+2046C>T||||||,A|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000498434|retained_intron|1/2|n.265C>T||||||,A|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000476619|processed_transcript|4/5|n.417C>T||||||,A|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000485373|processed_transcript|4/5|n.393C>T|||||| 22 32795751 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|5/11|c.498-5T>C||||||,G|splice_region_variant&intron_variant|LOW|RTCB|ENSG00000100220|transcript|ENST00000476619|processed_transcript|3/4|n.379-5T>C||||||,G|splice_region_variant&intron_variant|LOW|RTCB|ENSG00000100220|transcript|ENST00000485373|processed_transcript|3/4|n.355-5T>C||||||,G|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000487704|retained_intron||n.*767T>C|||||1798|,G|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|5/7|c.477+2003T>C||||||,G|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000498434|retained_intron|1/2|n.222T>C|||||| 22 32795786 . G A . . ANN=A|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000487704|retained_intron||n.*767C>T|||||1763|,A|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|5/11|c.498-40C>T||||||,A|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|5/7|c.477+1968C>T||||||,A|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000476619|processed_transcript|3/4|n.379-40C>T||||||,A|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000485373|processed_transcript|3/4|n.355-40C>T||||||,A|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000498434|retained_intron|1/2|n.187C>T|||||| 22 32797744 . T C . . ANN=C|missense_variant|MODERATE|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|5/12|c.487A>G|p.Met163Val|586/2027|487/1518|163/505||,C|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000498434|retained_intron||n.-1A>G|||||1772|,C|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|5/7|c.477+10A>G||||||,C|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000476619|processed_transcript|3/5|n.368A>G||||||,C|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000485373|processed_transcript|3/5|n.344A>G||||||,C|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000487704|retained_intron|5/5|n.572A>G|||||| 22 32797807 . G T . . ANN=T|missense_variant|MODERATE|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|5/12|c.424C>A|p.Gln142Lys|523/2027|424/1518|142/505||,T|missense_variant|MODERATE|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|5/8|c.424C>A|p.Gln142Lys|505/1188|424/528|142/175||,T|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000498434|retained_intron||n.-1C>A|||||1835|,T|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000476619|processed_transcript|3/5|n.305C>A||||||,T|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000485373|processed_transcript|3/5|n.281C>A||||||,T|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000487704|retained_intron|5/5|n.509C>A|||||| 22 32797808 . C T . . ANN=T|synonymous_variant|LOW|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|5/12|c.423G>A|p.Glu141Glu|522/2027|423/1518|141/505||,T|synonymous_variant|LOW|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|5/8|c.423G>A|p.Glu141Glu|504/1188|423/528|141/175||,T|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000498434|retained_intron||n.-1G>A|||||1836|,T|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000476619|processed_transcript|3/5|n.304G>A||||||,T|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000485373|processed_transcript|3/5|n.280G>A||||||,T|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000487704|retained_intron|5/5|n.508G>A|||||| 22 32802603 . C G . . ANN=G|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000463455|retained_intron||n.*628G>C|||||1263|,G|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|4/11|c.340+46G>C||||||,G|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|4/7|c.340+46G>C||||||,G|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000476619|processed_transcript|2/4|n.221+46G>C||||||,G|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000485373|processed_transcript|2/4|n.197+46G>C||||||,G|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000487704|retained_intron|4/4|n.425+46G>C|||||| 22 32802631 . T G . . ANN=G|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000463455|retained_intron||n.*628A>C|||||1235|,G|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|4/11|c.340+18A>C||||||,G|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|4/7|c.340+18A>C||||||,G|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000476619|processed_transcript|2/4|n.221+18A>C||||||,G|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000485373|processed_transcript|2/4|n.197+18A>C||||||,G|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000487704|retained_intron|4/4|n.425+18A>C|||||| 22 32802680 . A G . . ANN=G|synonymous_variant|LOW|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|4/12|c.309T>C|p.Asp103Asp|408/2027|309/1518|103/505||,G|synonymous_variant|LOW|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|4/8|c.309T>C|p.Asp103Asp|390/1188|309/528|103/175||,G|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000463455|retained_intron||n.*628T>C|||||1186|,G|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000476619|processed_transcript|2/5|n.190T>C||||||,G|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000485373|processed_transcript|2/5|n.166T>C||||||,G|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000487704|retained_intron|4/5|n.394T>C|||||| 22 32802718 . C T . . ANN=T|missense_variant|MODERATE|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|4/12|c.271G>A|p.Gly91Arg|370/2027|271/1518|91/505||,T|missense_variant|MODERATE|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|4/8|c.271G>A|p.Gly91Arg|352/1188|271/528|91/175||,T|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000463455|retained_intron||n.*628G>A|||||1148|,T|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000476619|processed_transcript|2/5|n.152G>A||||||,T|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000485373|processed_transcript|2/5|n.128G>A||||||,T|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000487704|retained_intron|4/5|n.356G>A|||||| 22 32802742 . T C . . ANN=C|missense_variant|MODERATE|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|4/12|c.247A>G|p.Ile83Val|346/2027|247/1518|83/505||,C|missense_variant|MODERATE|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|4/8|c.247A>G|p.Ile83Val|328/1188|247/528|83/175||,C|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000463455|retained_intron||n.*628A>G|||||1124|,C|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000476619|processed_transcript|2/5|n.128A>G||||||,C|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000485373|processed_transcript|2/5|n.104A>G||||||,C|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000487704|retained_intron|4/5|n.332A>G|||||| 22 32802790 . G C . . ANN=C|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000463455|retained_intron||n.*628C>G|||||1076|,C|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|3/11|c.241-42C>G||||||,C|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|3/7|c.241-42C>G||||||,C|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000476619|processed_transcript|1/4|n.122-42C>G||||||,C|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000485373|processed_transcript|1/4|n.98-42C>G||||||,C|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000487704|retained_intron|3/4|n.326-42C>G|||||| 22 32804122 . T C . . ANN=C|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000476619|processed_transcript||n.-1A>G|||||609|,C|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000485373|processed_transcript||n.-1A>G|||||726|,C|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|3/11|c.240+40A>G||||||,C|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|3/7|c.240+40A>G||||||,C|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000487704|retained_intron|3/4|n.325+40A>G||||||,C|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000463455|retained_intron|3/3|n.372A>G|||||| 22 32804176 . G T . . ANN=T|missense_variant|MODERATE|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|3/12|c.226C>A|p.Pro76Thr|325/2027|226/1518|76/505||,T|missense_variant|MODERATE|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|3/8|c.226C>A|p.Pro76Thr|307/1188|226/528|76/175||,T|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000476619|processed_transcript||n.-1C>A|||||663|,T|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000485373|processed_transcript||n.-1C>A|||||780|,T|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000487704|retained_intron|3/5|n.311C>A||||||,T|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000463455|retained_intron|3/3|n.318C>A|||||| 22 32804782 . T C . . ANN=C|synonymous_variant|LOW|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|2/12|c.132A>G|p.Lys44Lys|231/2027|132/1518|44/505||,C|synonymous_variant|LOW|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|2/8|c.132A>G|p.Lys44Lys|213/1188|132/528|44/175||,C|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000476619|processed_transcript||n.-1A>G|||||1269|,C|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000485373|processed_transcript||n.-1A>G|||||1386|,C|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000487704|retained_intron|2/5|n.217A>G||||||,C|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000463455|retained_intron|2/3|n.224A>G|||||| 22 32804861 . C T . . ANN=T|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000476619|processed_transcript||n.-1G>A|||||1348|,T|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000485373|processed_transcript||n.-1G>A|||||1465|,T|downstream_gene_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding||c.*1524G>A|||||4973|,T|downstream_gene_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding||c.*1635G>A|||||4973|,T|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|1/11|c.94-41G>A||||||,T|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|1/7|c.94-41G>A||||||,T|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000487704|retained_intron|1/4|n.179-41G>A||||||,T|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000463455|retained_intron|1/2|n.186-41G>A|||||| 22 32808005 . C T . . ANN=T|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000476619|processed_transcript||n.-1G>A|||||4492|,T|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000485373|processed_transcript||n.-1G>A|||||4609|,T|downstream_gene_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding||c.*1524G>A|||||1829|,T|downstream_gene_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding||c.*1635G>A|||||1829|,T|downstream_gene_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding||c.*1430G>A|||||2228|,T|downstream_gene_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding||c.*1439G>A|||||2285|,T|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|1/11|c.93+46G>A||||||,T|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|1/7|c.93+46G>A||||||,T|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000487704|retained_intron|1/4|n.178+46G>A||||||,T|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000463455|retained_intron|1/2|n.185+46G>A|||||| 22 32808011 . C G . . ANN=G|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000476619|processed_transcript||n.-1G>C|||||4498|,G|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000485373|processed_transcript||n.-1G>C|||||4615|,G|downstream_gene_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding||c.*1524G>C|||||1823|,G|downstream_gene_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding||c.*1635G>C|||||1823|,G|downstream_gene_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding||c.*1430G>C|||||2222|,G|downstream_gene_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding||c.*1439G>C|||||2279|,G|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|1/11|c.93+40G>C||||||,G|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|1/7|c.93+40G>C||||||,G|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000487704|retained_intron|1/4|n.178+40G>C||||||,G|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000463455|retained_intron|1/2|n.185+40G>C|||||| 22 32808012 . G T . . ANN=T|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000476619|processed_transcript||n.-1C>A|||||4499|,T|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000485373|processed_transcript||n.-1C>A|||||4616|,T|downstream_gene_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding||c.*1524C>A|||||1822|,T|downstream_gene_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding||c.*1635C>A|||||1822|,T|downstream_gene_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding||c.*1430C>A|||||2221|,T|downstream_gene_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding||c.*1439C>A|||||2278|,T|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|1/11|c.93+39C>A||||||,T|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|1/7|c.93+39C>A||||||,T|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000487704|retained_intron|1/4|n.178+39C>A||||||,T|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000463455|retained_intron|1/2|n.185+39C>A|||||| 22 32808078 . G A . . ANN=A|synonymous_variant|LOW|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|1/12|c.66C>T|p.Ile22Ile|165/2027|66/1518|22/505||,A|synonymous_variant|LOW|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|1/8|c.66C>T|p.Ile22Ile|147/1188|66/528|22/175||,A|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000476619|processed_transcript||n.-1C>T|||||4565|,A|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000485373|processed_transcript||n.-1C>T|||||4682|,A|downstream_gene_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding||c.*1524C>T|||||1756|,A|downstream_gene_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding||c.*1635C>T|||||1756|,A|downstream_gene_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding||c.*1430C>T|||||2155|,A|downstream_gene_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding||c.*1439C>T|||||2212|,A|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000487704|retained_intron|1/5|n.151C>T||||||,A|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000463455|retained_intron|1/3|n.158C>T|||||| 22 32808158 . T C . . ANN=C|5_prime_UTR_premature_start_codon_gain_variant|LOW|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|1/12|c.-15A>G||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|1/8|c.-15A>G||||||,C|5_prime_UTR_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|1/12|c.-15A>G|||||15|,C|5_prime_UTR_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|1/8|c.-15A>G|||||15|,C|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000476619|processed_transcript||n.-1A>G|||||4645|,C|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000485373|processed_transcript||n.-1A>G|||||4762|,C|downstream_gene_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding||c.*1524A>G|||||1676|,C|downstream_gene_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding||c.*1635A>G|||||1676|,C|downstream_gene_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding||c.*1430A>G|||||2075|,C|downstream_gene_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding||c.*1439A>G|||||2132|,C|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000487704|retained_intron|1/5|n.71A>G||||||,C|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000463455|retained_intron|1/3|n.78A>G|||||| 22 32810346 . C T . . ANN=T|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|15/15|c.1468G>A|p.Val490Ile|1468/1980|1468/1524|490/507||,T|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|16/16|c.1468G>A|p.Val490Ile|1579/2091|1468/1524|490/507||,T|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|15/15|c.640G>A|p.Val214Ile|1374/1487|640/696|214/231||,T|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|15/15|c.739G>A|p.Val247Ile|1383/1439|739/795|247/264||,T|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding||c.-100G>A|||||2104|,T|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding||c.-82G>A|||||2122|,T|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000487704|retained_intron||n.-1G>A|||||2118|,T|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000463455|retained_intron||n.-1G>A|||||2111| 22 32810378 . T G . . ANN=G|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|15/15|c.1436A>C|p.Glu479Ala|1436/1980|1436/1524|479/507||,G|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|16/16|c.1436A>C|p.Glu479Ala|1547/2091|1436/1524|479/507||,G|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|15/15|c.608A>C|p.Glu203Ala|1342/1487|608/696|203/231||,G|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|15/15|c.707A>C|p.Glu236Ala|1351/1439|707/795|236/264||,G|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding||c.-100A>C|||||2136|,G|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding||c.-82A>C|||||2154|,G|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000487704|retained_intron||n.-1A>C|||||2150|,G|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000463455|retained_intron||n.-1A>C|||||2143| 22 32811856 . T A . . ANN=A|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding||c.-100A>T|||||3614|,A|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding||c.-82A>T|||||3632|,A|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000487704|retained_intron||n.-1A>T|||||3628|,A|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000463455|retained_intron||n.-1A>T|||||3621|,A|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|14/14|c.1401+46A>T||||||,A|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|15/15|c.1401+46A>T||||||,A|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|14/14|c.573+46A>T||||||,A|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|14/14|c.672+46A>T|||||| 22 32811884 . T C . . ANN=C|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding||c.-100A>G|||||3642|,C|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding||c.-82A>G|||||3660|,C|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000487704|retained_intron||n.-1A>G|||||3656|,C|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000463455|retained_intron||n.-1A>G|||||3649|,C|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|14/14|c.1401+18A>G||||||,C|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|15/15|c.1401+18A>G||||||,C|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|14/14|c.573+18A>G||||||,C|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|14/14|c.672+18A>G|||||| 22 32811952 . A G . . ANN=G|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|14/15|c.1351T>C|p.Ser451Pro|1351/1980|1351/1524|451/507||,G|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|15/16|c.1351T>C|p.Ser451Pro|1462/2091|1351/1524|451/507||,G|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|14/15|c.523T>C|p.Ser175Pro|1257/1487|523/696|175/231||,G|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|14/15|c.622T>C|p.Ser208Pro|1266/1439|622/795|208/264||,G|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding||c.-100T>C|||||3710|,G|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding||c.-82T>C|||||3728|,G|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000487704|retained_intron||n.-1T>C|||||3724|,G|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000463455|retained_intron||n.-1T>C|||||3717| 22 32811973 . A G . . ANN=G|synonymous_variant|LOW|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|14/15|c.1330T>C|p.Leu444Leu|1330/1980|1330/1524|444/507||,G|synonymous_variant|LOW|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|15/16|c.1330T>C|p.Leu444Leu|1441/2091|1330/1524|444/507||,G|synonymous_variant|LOW|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|14/15|c.502T>C|p.Leu168Leu|1236/1487|502/696|168/231||,G|synonymous_variant|LOW|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|14/15|c.601T>C|p.Leu201Leu|1245/1439|601/795|201/264||,G|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding||c.-100T>C|||||3731|,G|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding||c.-82T>C|||||3749|,G|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000487704|retained_intron||n.-1T>C|||||3745|,G|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000463455|retained_intron||n.-1T>C|||||3738| 22 32811998 . G A . . ANN=A|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding||c.-100C>T|||||3756|,A|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding||c.-82C>T|||||3774|,A|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000487704|retained_intron||n.-1C>T|||||3770|,A|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000463455|retained_intron||n.-1C>T|||||3763|,A|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|13/14|c.1325-20C>T||||||,A|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|14/15|c.1325-20C>T||||||,A|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|13/14|c.497-20C>T||||||,A|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|13/14|c.596-20C>T|||||| 22 32812006 . ATTGGGCACAAGCACAGAGG A . . ANN=|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding||c.-100_-100delCCTCTGTGCTTGTGCCCAA|||||3765|,|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding||c.-82_-82delCCTCTGTGCTTGTGCCCAA|||||3783|,|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000487704|retained_intron||n.-1_-1delCCTCTGTGCTTGTGCCCAA|||||3779|,|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000463455|retained_intron||n.-1_-1delCCTCTGTGCTTGTGCCCAA|||||3772|,|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|13/14|c.1325-47_1325-29delCCTCTGTGCTTGTGCCCAA||||||,|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|14/15|c.1325-47_1325-29delCCTCTGTGCTTGTGCCCAA||||||,|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|13/14|c.497-47_497-29delCCTCTGTGCTTGTGCCCAA||||||,|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|13/14|c.596-47_596-29delCCTCTGTGCTTGTGCCCAA|||||| 22 32813110 . G A . . ANN=A|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|13/15|c.1286C>T|p.Ser429Leu|1286/1980|1286/1524|429/507||,A|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|14/16|c.1286C>T|p.Ser429Leu|1397/2091|1286/1524|429/507||,A|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|13/15|c.458C>T|p.Ser153Leu|1192/1487|458/696|153/231||,A|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|13/15|c.557C>T|p.Ser186Leu|1201/1439|557/795|186/264||,A|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding||c.-100C>T|||||4868|,A|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding||c.-82C>T|||||4886|,A|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000487704|retained_intron||n.-1C>T|||||4882|,A|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000463455|retained_intron||n.-1C>T|||||4875| 22 32813176 . CT C . . ANN=|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding||c.-100delA|||||4935|,|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding||c.-82delA|||||4953|,|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000487704|retained_intron||n.-1delA|||||4949|,|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000463455|retained_intron||n.-1delA|||||4942|,|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|12/14|c.1261-42delA||||||,|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|13/15|c.1261-42delA||||||,|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|12/14|c.433-42delA||||||,|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|12/14|c.532-42delA|||||| 22 32815398 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|11/14|c.1218-7C>T||||||,A|splice_region_variant&intron_variant|LOW|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|12/15|c.1218-7C>T||||||,A|splice_region_variant&intron_variant|LOW|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|11/14|c.390-7C>T||||||,A|splice_region_variant&intron_variant|LOW|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|11/14|c.489-7C>T|||||| 22 32815441 . T C . . ANN=C|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|11/14|c.1218-50A>G||||||,C|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|12/15|c.1218-50A>G||||||,C|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|11/14|c.390-50A>G||||||,C|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|11/14|c.489-50A>G|||||| 22 32827417 . G A . . ANN=A|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|10/14|c.1150-16C>T||||||,A|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|11/15|c.1150-16C>T||||||,A|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|10/14|c.322-16C>T||||||,A|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|10/14|c.421-16C>T|||||| 22 32827423 . A AT . . ANN=T|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|10/14|c.1150-23dupA||||||,T|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|11/15|c.1150-23dupA||||||,T|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|10/14|c.322-23dupA||||||,T|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|10/14|c.421-23dupA|||||| 22 32828343 . T C . . ANN=C|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|10/14|c.1149+17A>G||||||,C|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|11/15|c.1149+17A>G||||||,C|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|10/14|c.321+17A>G||||||,C|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|10/14|c.421-942A>G|||||| 22 32828366 . C A . . ANN=A|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|10/15|c.1143G>T|p.Met381Ile|1143/1980|1143/1524|381/507||,A|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|11/16|c.1143G>T|p.Met381Ile|1254/2091|1143/1524|381/507||,A|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|10/15|c.315G>T|p.Met105Ile|1049/1487|315/696|105/231||,A|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|10/14|c.421-965G>T|||||| 22 32828375 . G A . . ANN=A|synonymous_variant|LOW|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|10/15|c.1134C>T|p.Ile378Ile|1134/1980|1134/1524|378/507||,A|synonymous_variant|LOW|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|11/16|c.1134C>T|p.Ile378Ile|1245/2091|1134/1524|378/507||,A|synonymous_variant|LOW|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|10/15|c.306C>T|p.Ile102Ile|1040/1487|306/696|102/231||,A|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|10/14|c.421-974C>T|||||| 22 32828429 . G A . . ANN=A|synonymous_variant|LOW|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|10/15|c.1080C>T|p.Ile360Ile|1080/1980|1080/1524|360/507||,A|synonymous_variant|LOW|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|11/16|c.1080C>T|p.Ile360Ile|1191/2091|1080/1524|360/507||,A|synonymous_variant|LOW|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|10/15|c.252C>T|p.Ile84Ile|986/1487|252/696|84/231||,A|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|10/14|c.421-1028C>T|||||| 22 32828544 . G A . . ANN=A|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|9/14|c.979-14C>T||||||,A|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|10/15|c.979-14C>T||||||,A|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|9/14|c.151-14C>T||||||,A|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|10/14|c.421-1143C>T|||||| 22 32828556 . A C . . ANN=C|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|9/14|c.979-26T>G||||||,C|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|10/15|c.979-26T>G||||||,C|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|9/14|c.151-26T>G||||||,C|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|10/14|c.420+1150T>G|||||| 22 32829800 . G A . . ANN=A|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|8/14|c.925-41C>T||||||,A|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|9/15|c.925-41C>T||||||,A|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|8/14|c.97-41C>T||||||,A|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|9/14|c.367-41C>T|||||| 22 32831711 . C G . . ANN=G|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|8/15|c.904G>C|p.Val302Leu|904/1980|904/1524|302/507||,G|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|9/16|c.904G>C|p.Val302Leu|1015/2091|904/1524|302/507||,G|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|8/15|c.76G>C|p.Val26Leu|810/1487|76/696|26/231||,G|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|9/15|c.346G>C|p.Val116Leu|990/1439|346/795|116/264|| 22 32831721 . C T . . ANN=T|synonymous_variant|LOW|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|8/15|c.894G>A|p.Gly298Gly|894/1980|894/1524|298/507||,T|synonymous_variant|LOW|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|9/16|c.894G>A|p.Gly298Gly|1005/2091|894/1524|298/507||,T|synonymous_variant|LOW|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|8/15|c.66G>A|p.Gly22Gly|800/1487|66/696|22/231||,T|synonymous_variant|LOW|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|9/15|c.336G>A|p.Gly112Gly|980/1439|336/795|112/264|| 22 32831769 . G A . . ANN=A|synonymous_variant|LOW|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|8/15|c.846C>T|p.Ile282Ile|846/1980|846/1524|282/507||,A|synonymous_variant|LOW|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|9/16|c.846C>T|p.Ile282Ile|957/2091|846/1524|282/507||,A|synonymous_variant|LOW|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|8/15|c.18C>T|p.Ile6Ile|752/1487|18/696|6/231||,A|synonymous_variant|LOW|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|9/15|c.288C>T|p.Ile96Ile|932/1439|288/795|96/264|| 22 32831809 . A G . . ANN=G|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|8/15|c.806T>C|p.Val269Ala|806/1980|806/1524|269/507||,G|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|9/16|c.806T>C|p.Val269Ala|917/2091|806/1524|269/507||,G|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|9/15|c.248T>C|p.Val83Ala|892/1439|248/795|83/264||,G|5_prime_UTR_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|8/15|c.-23T>C|||||23| 22 32831828 . A AG . . ANN=G|frameshift_variant|HIGH|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|8/15|c.786dupC|p.Phe263fs|786/1980|786/1524|262/507||,G|frameshift_variant|HIGH|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|9/16|c.786dupC|p.Phe263fs|897/2091|786/1524|262/507||,G|frameshift_variant|HIGH|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|9/15|c.228dupC|p.Phe77fs|872/1439|228/795|76/264||,G|5_prime_UTR_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|8/15|c.-43dupC|||||43|;LOF=(BPIFC|ENSG00000184459|5|0.60) 22 32831830 . G A . . ANN=A|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|8/15|c.785C>T|p.Pro262Leu|785/1980|785/1524|262/507||,A|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|9/16|c.785C>T|p.Pro262Leu|896/2091|785/1524|262/507||,A|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|9/15|c.227C>T|p.Pro76Leu|871/1439|227/795|76/264||,A|5_prime_UTR_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|8/15|c.-44C>T|||||44| 22 32831837 . C T . . ANN=T|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|8/15|c.778G>A|p.Asp260Asn|778/1980|778/1524|260/507||,T|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|9/16|c.778G>A|p.Asp260Asn|889/2091|778/1524|260/507||,T|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|9/15|c.220G>A|p.Asp74Asn|864/1439|220/795|74/264||,T|5_prime_UTR_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|8/15|c.-51G>A|||||51| 22 32833717 . G A . . ANN=A|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|7/14|c.747+30C>T||||||,A|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|8/15|c.747+30C>T||||||,A|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|7/14|c.-82+30C>T||||||,A|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|8/14|c.189+30C>T|||||| 22 32833729 . T C . . ANN=C|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|7/14|c.747+18A>G||||||,C|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|8/15|c.747+18A>G||||||,C|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|7/14|c.-82+18A>G||||||,C|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|8/14|c.189+18A>G|||||| 22 32833754 . T C . . ANN=C|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|7/15|c.740A>G|p.Asn247Ser|740/1980|740/1524|247/507||,C|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|8/16|c.740A>G|p.Asn247Ser|851/2091|740/1524|247/507||,C|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|8/15|c.182A>G|p.Asn61Ser|826/1439|182/795|61/264||,C|5_prime_UTR_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|7/15|c.-89A>G|||||1968| 22 32838673 . G A . . ANN=A|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|6/15|c.640C>T|p.Leu214Phe|640/1980|640/1524|214/507||,A|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|7/16|c.640C>T|p.Leu214Phe|751/2091|640/1524|214/507||,A|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|7/15|c.82C>T|p.Leu28Phe|726/1439|82/795|28/264||,A|5_prime_UTR_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|6/15|c.-189C>T|||||6887| 22 32841928 . T C . . ANN=C|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|4/15|c.430A>G|p.Ile144Val|430/1980|430/1524|144/507||,C|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|5/16|c.430A>G|p.Ile144Val|541/2091|430/1524|144/507||,C|5_prime_UTR_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|5/15|c.-129A>G|||||271|,C|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|5/14|c.-235+1271A>G|||||| 22 32841950 . G A . . ANN=A|synonymous_variant|LOW|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|4/15|c.408C>T|p.Ser136Ser|408/1980|408/1524|136/507||,A|synonymous_variant|LOW|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|5/16|c.408C>T|p.Ser136Ser|519/2091|408/1524|136/507||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|5/15|c.-151C>T||||||,A|5_prime_UTR_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|5/15|c.-151C>T|||||293|,A|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|5/14|c.-235+1249C>T|||||| 22 32842003 . G A . . ANN=A|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|3/14|c.375-20C>T||||||,A|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|4/15|c.375-20C>T||||||,A|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|5/14|c.-235+1196C>T||||||,A|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|4/14|c.-184-20C>T|||||| 22 32842010 . A C . . ANN=C|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|3/14|c.375-27T>G||||||,C|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|4/15|c.375-27T>G||||||,C|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|5/14|c.-235+1189T>G||||||,C|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|4/14|c.-184-27T>G|||||| 22 32843175 . C T . . ANN=T|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|3/14|c.374+24G>A||||||,T|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|4/15|c.374+24G>A||||||,T|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|5/14|c.-235+24G>A||||||,T|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|3/14|c.-271+24G>A|||||| 22 32843258 . C T . . ANN=T|synonymous_variant|LOW|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|3/15|c.315G>A|p.Ala105Ala|315/1980|315/1524|105/507||,T|synonymous_variant|LOW|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|4/16|c.315G>A|p.Ala105Ala|426/2091|315/1524|105/507||,T|5_prime_UTR_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|5/15|c.-294G>A|||||11472|,T|5_prime_UTR_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|3/15|c.-330G>A|||||1601| 22 32843259 . G A . . ANN=A|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|3/15|c.314C>T|p.Ala105Val|314/1980|314/1524|105/507||,A|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|4/16|c.314C>T|p.Ala105Val|425/2091|314/1524|105/507||,A|5_prime_UTR_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|5/15|c.-295C>T|||||11473|,A|5_prime_UTR_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|3/15|c.-331C>T|||||1602| 22 32843312 . G A . . ANN=A|synonymous_variant|LOW|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|3/15|c.261C>T|p.Ala87Ala|261/1980|261/1524|87/507||,A|synonymous_variant|LOW|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|4/16|c.261C>T|p.Ala87Ala|372/2091|261/1524|87/507||,A|5_prime_UTR_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|5/15|c.-348C>T|||||11526|,A|5_prime_UTR_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|3/15|c.-384C>T|||||1655| 22 32843317 . T C . . ANN=C|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|3/15|c.256A>G|p.Ser86Gly|256/1980|256/1524|86/507||,C|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|4/16|c.256A>G|p.Ser86Gly|367/2091|256/1524|86/507||,C|5_prime_UTR_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|5/15|c.-353A>G|||||11531|,C|5_prime_UTR_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|3/15|c.-389A>G|||||1660| 22 32849352 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000397450|protein_coding|4/4|c.*14C>T|||||14|,A|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|2/14|c.245+18C>T||||||,A|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|3/15|c.245+18C>T||||||,A|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|4/14|c.-364+18C>T||||||,A|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|2/14|c.-400+18C>T|||||| 22 32849393 . A G . . ANN=G|synonymous_variant|LOW|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|2/15|c.222T>C|p.Asp74Asp|222/1980|222/1524|74/507||,G|synonymous_variant|LOW|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|3/16|c.222T>C|p.Asp74Asp|333/2091|222/1524|74/507||,G|synonymous_variant|LOW|BPIFC|ENSG00000184459|transcript|ENST00000397450|protein_coding|4/4|c.222T>C|p.Asp74Asp|386/458|222/249|74/82||,G|5_prime_UTR_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|4/15|c.-387T>C|||||17607|,G|5_prime_UTR_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|2/15|c.-423T>C|||||7736| 22 32849470 . T A . . ANN=A|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|2/15|c.145A>T|p.Met49Leu|145/1980|145/1524|49/507||,A|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|3/16|c.145A>T|p.Met49Leu|256/2091|145/1524|49/507||,A|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000397450|protein_coding|4/4|c.145A>T|p.Met49Leu|309/458|145/249|49/82||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|4/15|c.-464A>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|2/15|c.-500A>T||||||,A|5_prime_UTR_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|4/15|c.-464A>T|||||17684|,A|5_prime_UTR_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|2/15|c.-500A>T|||||7813| 22 32849525 . G A . . ANN=A|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|1/14|c.125-35C>T||||||,A|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|2/15|c.125-35C>T||||||,A|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|3/14|c.-484-35C>T||||||,A|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|1/14|c.-520-35C>T||||||,A|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000397450|protein_coding|3/3|c.125-35C>T|||||| 22 32853229 . T C . . ANN=C|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|1/14|c.124+21A>G||||||,C|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|2/15|c.124+21A>G||||||,C|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|3/14|c.-485+52A>G||||||,C|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|1/14|c.-521+21A>G||||||,C|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000397450|protein_coding|3/3|c.124+21A>G|||||| 22 32871011 . C T . . ANN=T|synonymous_variant|LOW|FBXO7|ENSG00000100225|transcript|ENST00000266087|protein_coding|1/9|c.22C>T|p.Leu8Leu|349/2195|22/1569|8/522||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Ubiquitin-like|ENST00000266087|protein_coding|1/9|c.22C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Ubiquitin-like|ENST00000266087|protein_coding|2/9|c.22C>T||||||,T|upstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000452138|protein_coding||c.-126C>T|||||213|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000382058|protein_coding||c.-126C>T|||||213|,T|upstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000397426|protein_coding||c.-363C>T|||||233|,T|upstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000444207|protein_coding||c.-586C>T|||||569|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000465418|processed_transcript||n.-1C>T|||||3011|,T|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|1/8|n.22C>T||||||,T|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|1/9|n.22C>T||||||,T|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000492535|retained_intron|1/7|n.10C>T|||||| 22 32871120 . G A . . ANN=A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Ubiquitin-like|ENST00000266087|protein_coding|1/9|c.122+9G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Ubiquitin-like|ENST00000266087|protein_coding|2/9|c.122+9G>A||||||,A|upstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000452138|protein_coding||c.-126G>A|||||104|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000382058|protein_coding||c.-126G>A|||||104|,A|upstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000397426|protein_coding||c.-363G>A|||||124|,A|upstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000444207|protein_coding||c.-586G>A|||||460|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000465418|processed_transcript||n.-1G>A|||||2902|,A|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000266087|protein_coding|1/8|c.122+9G>A||||||,A|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|1/7|n.122+9G>A||||||,A|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|1/8|n.122+9G>A||||||,A|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000492535|retained_intron|1/6|n.110+9G>A|||||| 22 32871365 . G A . . ANN=A|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000452138|protein_coding|1/3|c.17G>A|p.Gly6Glu|142/514|17/389|6/128||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000382058|protein_coding|1/9|c.17G>A|p.Gly6Glu|142/1758|17/1332|6/443||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Ubiquitin-like|ENST00000266087|protein_coding|1/9|c.122+254G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Ubiquitin-like|ENST00000266087|protein_coding|2/9|c.122+254G>A||||||,A|5_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000397426|protein_coding|1/9|c.-241G>A|||||3823|,A|upstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000444207|protein_coding||c.-586G>A|||||215|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000465418|processed_transcript||n.-1G>A|||||2657|,A|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000266087|protein_coding|1/8|c.122+254G>A||||||,A|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|1/7|n.122+254G>A||||||,A|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|1/8|n.122+254G>A||||||,A|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000492535|retained_intron|1/6|n.110+254G>A|||||| 22 32871383 . T G . . ANN=G|missense_variant&splice_region_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000452138|protein_coding|1/3|c.35T>G|p.Leu12Arg|160/514|35/389|12/128||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant&splice_region_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000382058|protein_coding|1/9|c.35T>G|p.Leu12Arg|160/1758|35/1332|12/443||,G|splice_region_variant|LOW|FBXO7|ENSG00000100225|transcript|ENST00000397426|protein_coding|1/9|c.-223T>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Ubiquitin-like|ENST00000266087|protein_coding|1/9|c.122+272T>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Ubiquitin-like|ENST00000266087|protein_coding|2/9|c.122+272T>G||||||,G|5_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000397426|protein_coding|1/9|c.-223T>G|||||3805|,G|upstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000444207|protein_coding||c.-586T>G|||||197|WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000465418|processed_transcript||n.-1T>G|||||2639|,G|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000266087|protein_coding|1/8|c.122+272T>G||||||,G|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|1/7|n.122+272T>G||||||,G|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|1/8|n.122+272T>G||||||,G|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000492535|retained_intron|1/6|n.110+272T>G|||||| 22 32874953 . T G . . ANN=G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Ubiquitin-like|ENST00000266087|protein_coding|1/9|c.123-15T>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Ubiquitin-like|ENST00000266087|protein_coding|2/9|c.123-15T>G||||||,G|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000266087|protein_coding|1/8|c.123-15T>G||||||,G|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|1/7|n.122+3842T>G||||||,G|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|1/8|n.123-167T>G||||||,G|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000492535|retained_intron|1/6|n.111-167T>G||||||,G|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000452138|protein_coding|1/2|c.38-167T>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000382058|protein_coding|1/8|c.38-167T>G||||||,G|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000397426|protein_coding|1/8|c.-220-15T>G||||||,G|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000444207|protein_coding|1/2|c.-220-15T>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000465418|processed_transcript|1/1|n.163-15T>G|||||| 22 32874958 . T G . . ANN=G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Ubiquitin-like|ENST00000266087|protein_coding|1/9|c.123-10T>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Ubiquitin-like|ENST00000266087|protein_coding|2/9|c.123-10T>G||||||,G|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000266087|protein_coding|1/8|c.123-10T>G||||||,G|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|1/7|n.122+3847T>G||||||,G|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|1/8|n.123-162T>G||||||,G|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000492535|retained_intron|1/6|n.111-162T>G||||||,G|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000452138|protein_coding|1/2|c.38-162T>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000382058|protein_coding|1/8|c.38-162T>G||||||,G|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000397426|protein_coding|1/8|c.-220-10T>G||||||,G|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000444207|protein_coding|1/2|c.-220-10T>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000465418|processed_transcript|1/1|n.163-10T>G|||||| 22 32875050 . G A . . ANN=A|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000266087|protein_coding|2/9|c.205G>A|p.Val69Ile|532/2195|205/1569|69/522||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Ubiquitin-like|ENST00000266087|protein_coding|1/9|c.205G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Ubiquitin-like|ENST00000266087|protein_coding|2/9|c.205G>A||||||,A|5_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000397426|protein_coding|2/9|c.-138G>A|||||138|,A|5_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000444207|protein_coding|2/3|c.-138G>A|||||138|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|1/7|n.122+3939G>A||||||,A|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|1/8|n.123-70G>A||||||,A|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000492535|retained_intron|1/6|n.111-70G>A||||||,A|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000452138|protein_coding|1/2|c.38-70G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000382058|protein_coding|1/8|c.38-70G>A||||||,A|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000465418|processed_transcript|2/2|n.245G>A|||||| 22 32875122 . T G . . ANN=G|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000266087|protein_coding|2/9|c.277T>G|p.Ser93Ala|604/2195|277/1569|93/522||,G|missense_variant&splice_region_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000452138|protein_coding|2/3|c.40T>G|p.Ser14Ala|165/514|40/389|14/128||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant&splice_region_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000382058|protein_coding|2/9|c.40T>G|p.Ser14Ala|165/1758|40/1332|14/443||,G|splice_region_variant&non_coding_exon_variant|LOW|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|2/9|n.125T>G||||||,G|splice_region_variant&non_coding_exon_variant|LOW|FBXO7|ENSG00000100225|transcript|ENST00000492535|retained_intron|2/7|n.113T>G||||||,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|FBXO7|ENSG00000100225|transcript|ENST00000397426|protein_coding|2/9|c.-66T>G||||||,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|FBXO7|ENSG00000100225|transcript|ENST00000444207|protein_coding|2/3|c.-66T>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_PINK1|ENST00000266087|protein_coding|2/9|c.277T>G||||||,G|5_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000397426|protein_coding|2/9|c.-66T>G|||||66|,G|5_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000444207|protein_coding|2/3|c.-66T>G|||||66|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|1/7|n.122+4011T>G||||||,G|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000465418|processed_transcript|2/2|n.317T>G|||||| 22 32875157 . C T . . ANN=T|synonymous_variant|LOW|FBXO7|ENSG00000100225|transcript|ENST00000266087|protein_coding|2/9|c.312C>T|p.Pro104Pro|639/2195|312/1569|104/522||,T|synonymous_variant|LOW|FBXO7|ENSG00000100225|transcript|ENST00000452138|protein_coding|2/3|c.75C>T|p.Pro25Pro|200/514|75/389|25/128||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|FBXO7|ENSG00000100225|transcript|ENST00000382058|protein_coding|2/9|c.75C>T|p.Pro25Pro|200/1758|75/1332|25/443||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_PINK1|ENST00000266087|protein_coding|2/9|c.312C>T||||||,T|5_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000397426|protein_coding|2/9|c.-31C>T|||||31|,T|5_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000444207|protein_coding|2/3|c.-31C>T|||||31|WARNING_TRANSCRIPT_NO_STOP_CODON,T|3_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|2/9|n.*10C>T|||||10|,T|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|1/7|n.122+4046C>T||||||,T|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|2/9|n.*10C>T||||||,T|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000492535|retained_intron|2/7|n.148C>T||||||,T|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000465418|processed_transcript|2/2|n.352C>T|||||| 22 32875190 . G A . . ANN=A|start_lost|HIGH|FBXO7|ENSG00000100225|transcript|ENST00000397426|protein_coding|2/9|c.3G>A|p.Met1?|365/1888|3/1227|1/408||,A|start_lost|HIGH|FBXO7|ENSG00000100225|transcript|ENST00000444207|protein_coding|2/3|c.3G>A|p.Met1?|588/747|3/162|1/53||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000266087|protein_coding|2/9|c.345G>A|p.Met115Ile|672/2195|345/1569|115/522||,A|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000452138|protein_coding|2/3|c.108G>A|p.Met36Ile|233/514|108/389|36/128||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000382058|protein_coding|2/9|c.108G>A|p.Met36Ile|233/1758|108/1332|36/443||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_PINK1|ENST00000266087|protein_coding|2/9|c.345G>A||||||,A|3_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|2/9|n.*43G>A|||||43|,A|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|1/7|n.122+4079G>A||||||,A|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|2/9|n.*43G>A||||||,A|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000492535|retained_intron|2/7|n.181G>A||||||,A|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000465418|processed_transcript|2/2|n.385G>A||||||;LOF=(FBXO7|ENSG00000100225|10|0.20) 22 32875203 . C T . . ANN=T|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000266087|protein_coding|2/9|c.358C>T|p.Pro120Ser|685/2195|358/1569|120/522||,T|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000452138|protein_coding|2/3|c.121C>T|p.Pro41Ser|246/514|121/389|41/128||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000382058|protein_coding|2/9|c.121C>T|p.Pro41Ser|246/1758|121/1332|41/443||,T|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000397426|protein_coding|2/9|c.16C>T|p.Pro6Ser|378/1888|16/1227|6/408||,T|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000444207|protein_coding|2/3|c.16C>T|p.Pro6Ser|601/747|16/162|6/53||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_PINK1|ENST00000266087|protein_coding|2/9|c.358C>T||||||,T|3_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|2/9|n.*56C>T|||||56|,T|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|1/7|n.122+4092C>T||||||,T|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|2/9|n.*56C>T||||||,T|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000492535|retained_intron|2/7|n.194C>T||||||,T|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000465418|processed_transcript|2/2|n.398C>T|||||| 22 32879841 . A T . . ANN=T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000266087|protein_coding|3/9|c.418-43A>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000266087|protein_coding|2/9|c.418-43A>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000382058|protein_coding|2/9|c.181-43A>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000382058|protein_coding|3/9|c.181-43A>T||||||,T|upstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000484607|retained_intron||n.-1A>T|||||3434|,T|downstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000465418|processed_transcript||n.*413A>T|||||4623|,T|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000266087|protein_coding|2/8|c.418-43A>T||||||,T|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|1/7|n.123-43A>T||||||,T|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|2/8|n.*116-43A>T||||||,T|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000492535|retained_intron|2/6|n.254-43A>T||||||,T|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000452138|protein_coding|2/2|c.181-43A>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000382058|protein_coding|2/8|c.181-43A>T||||||,T|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000397426|protein_coding|2/8|c.76-43A>T||||||,T|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000444207|protein_coding|2/2|c.76-43A>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 32879849 . TTTAA T . . ANN=|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000266087|protein_coding|3/9|c.418-34_418-31delTTAA||||||,|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000266087|protein_coding|2/9|c.418-34_418-31delTTAA||||||,|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000382058|protein_coding|2/9|c.181-34_181-31delTTAA||||||,|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000382058|protein_coding|3/9|c.181-34_181-31delTTAA||||||,|upstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000484607|retained_intron||n.-1_-1delTTAA|||||3425|,|downstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000465418|processed_transcript||n.*413_*413delTTAA|||||4632|,|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000266087|protein_coding|2/8|c.418-28_418-25delAATT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|1/7|n.123-28_123-25delAATT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|2/8|n.*116-28_*116-25delAATT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000492535|retained_intron|2/6|n.254-28_254-25delAATT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000452138|protein_coding|2/2|c.181-28_181-25delAATT||||||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000382058|protein_coding|2/8|c.181-28_181-25delAATT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000397426|protein_coding|2/8|c.76-28_76-25delAATT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000444207|protein_coding|2/2|c.76-28_76-25delAATT||||||WARNING_TRANSCRIPT_NO_STOP_CODON&INFO_REALIGN_3_PRIME 22 32879974 . C T . . ANN=T|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000266087|protein_coding|3/9|c.508C>T|p.Leu170Phe|835/2195|508/1569|170/522||,T|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000452138|protein_coding|3/3|c.271C>T|p.Leu91Phe|396/514|271/389|91/128||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000382058|protein_coding|3/9|c.271C>T|p.Leu91Phe|396/1758|271/1332|91/443||,T|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000397426|protein_coding|3/9|c.166C>T|p.Leu56Phe|528/1888|166/1227|56/408||,T|3_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|2/8|n.*87C>T|||||87|,T|3_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|3/9|n.*206C>T|||||4827|,T|upstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000484607|retained_intron||n.-1C>T|||||3301|,T|downstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000444207|protein_coding||c.*747C>T|||||4|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000465418|processed_transcript||n.*413C>T|||||4756|,T|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|2/8|n.*87C>T||||||,T|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|3/9|n.*206C>T||||||,T|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000492535|retained_intron|3/7|n.344C>T|||||| 22 32880006 . A G . . ANN=G|synonymous_variant|LOW|FBXO7|ENSG00000100225|transcript|ENST00000266087|protein_coding|3/9|c.540A>G|p.Pro180Pro|867/2195|540/1569|180/522||,G|synonymous_variant|LOW|FBXO7|ENSG00000100225|transcript|ENST00000452138|protein_coding|3/3|c.303A>G|p.Pro101Pro|428/514|303/389|101/128||WARNING_TRANSCRIPT_INCOMPLETE,G|synonymous_variant|LOW|FBXO7|ENSG00000100225|transcript|ENST00000382058|protein_coding|3/9|c.303A>G|p.Pro101Pro|428/1758|303/1332|101/443||,G|synonymous_variant|LOW|FBXO7|ENSG00000100225|transcript|ENST00000397426|protein_coding|3/9|c.198A>G|p.Pro66Pro|560/1888|198/1227|66/408||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|5/9|c.540A>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|7/9|c.540A>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|3/9|c.540A>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|6/9|c.540A>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|4/9|c.540A>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|5/9|c.303A>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|7/9|c.303A>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|3/9|c.303A>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|6/9|c.303A>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|4/9|c.303A>G||||||,G|3_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|2/8|n.*119A>G|||||119|,G|3_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|3/9|n.*238A>G|||||4859|,G|upstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000484607|retained_intron||n.-1A>G|||||3269|,G|downstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000444207|protein_coding||c.*747A>G|||||36|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000465418|processed_transcript||n.*413A>G|||||4788|,G|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|2/8|n.*119A>G||||||,G|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|3/9|n.*238A>G||||||,G|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000492535|retained_intron|3/7|n.376A>G|||||| 22 32880067 . G A . . ANN=A|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000266087|protein_coding|3/9|c.601G>A|p.Val201Met|928/2195|601/1569|201/522||,A|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000452138|protein_coding|3/3|c.364G>A|p.Val122Met|489/514|364/389|122/128||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000382058|protein_coding|3/9|c.364G>A|p.Val122Met|489/1758|364/1332|122/443||,A|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000397426|protein_coding|3/9|c.259G>A|p.Val87Met|621/1888|259/1227|87/408||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|5/9|c.601G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|7/9|c.601G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|3/9|c.601G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|6/9|c.601G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|4/9|c.601G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|helix|ENST00000266087|protein_coding|3/9|c.601G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|5/9|c.364G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|7/9|c.364G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|3/9|c.364G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|6/9|c.364G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|4/9|c.364G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|helix|ENST00000382058|protein_coding|3/9|c.364G>A||||||,A|3_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|2/8|n.*180G>A|||||180|,A|3_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|3/9|n.*299G>A|||||4920|,A|upstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000484607|retained_intron||n.-1G>A|||||3208|,A|downstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000444207|protein_coding||c.*747G>A|||||97|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000465418|processed_transcript||n.*413G>A|||||4849|,A|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|2/8|n.*180G>A||||||,A|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|3/9|n.*299G>A||||||,A|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000492535|retained_intron|3/7|n.437G>A|||||| 22 32880130 . A T . . ANN=T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|5/9|c.645+19A>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|7/9|c.645+19A>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|3/9|c.645+19A>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|6/9|c.645+19A>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|4/9|c.645+19A>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|beta_strand|ENST00000266087|protein_coding|3/9|c.645+19A>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|beta_strand|ENST00000266087|protein_coding|4/9|c.645+19A>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|5/9|c.408+19A>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|7/9|c.408+19A>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|3/9|c.408+19A>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|6/9|c.408+19A>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|4/9|c.408+19A>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|beta_strand|ENST00000382058|protein_coding|3/9|c.408+19A>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|beta_strand|ENST00000382058|protein_coding|4/9|c.408+19A>T||||||,T|upstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000484607|retained_intron||n.-1A>T|||||3145|,T|downstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000452138|protein_coding||c.*514A>T|||||38|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000444207|protein_coding||c.*747A>T|||||160|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000465418|processed_transcript||n.*413A>T|||||4912|,T|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000266087|protein_coding|3/8|c.645+19A>T||||||,T|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|2/7|n.*224+19A>T||||||,T|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|3/8|n.*343+19A>T||||||,T|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000492535|retained_intron|3/6|n.481+19A>T||||||,T|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000382058|protein_coding|3/8|c.408+19A>T||||||,T|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000397426|protein_coding|3/8|c.303+19A>T|||||| 22 32880140 . C T . . ANN=T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|5/9|c.645+29C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|7/9|c.645+29C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|3/9|c.645+29C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|6/9|c.645+29C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|4/9|c.645+29C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|beta_strand|ENST00000266087|protein_coding|3/9|c.645+29C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|beta_strand|ENST00000266087|protein_coding|4/9|c.645+29C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|5/9|c.408+29C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|7/9|c.408+29C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|3/9|c.408+29C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|6/9|c.408+29C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|4/9|c.408+29C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|beta_strand|ENST00000382058|protein_coding|3/9|c.408+29C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|beta_strand|ENST00000382058|protein_coding|4/9|c.408+29C>T||||||,T|upstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000484607|retained_intron||n.-1C>T|||||3135|,T|downstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000452138|protein_coding||c.*514C>T|||||48|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000444207|protein_coding||c.*747C>T|||||170|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000465418|processed_transcript||n.*413C>T|||||4922|,T|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000266087|protein_coding|3/8|c.645+29C>T||||||,T|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|2/7|n.*224+29C>T||||||,T|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|3/8|n.*343+29C>T||||||,T|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000492535|retained_intron|3/6|n.481+29C>T||||||,T|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000382058|protein_coding|3/8|c.408+29C>T||||||,T|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000397426|protein_coding|3/8|c.303+29C>T|||||| 22 32880143 . A G . . ANN=G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|5/9|c.645+32A>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|7/9|c.645+32A>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|3/9|c.645+32A>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|6/9|c.645+32A>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|4/9|c.645+32A>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|beta_strand|ENST00000266087|protein_coding|3/9|c.645+32A>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|beta_strand|ENST00000266087|protein_coding|4/9|c.645+32A>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|5/9|c.408+32A>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|7/9|c.408+32A>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|3/9|c.408+32A>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|6/9|c.408+32A>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|4/9|c.408+32A>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|beta_strand|ENST00000382058|protein_coding|3/9|c.408+32A>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|beta_strand|ENST00000382058|protein_coding|4/9|c.408+32A>G||||||,G|upstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000484607|retained_intron||n.-1A>G|||||3132|,G|downstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000452138|protein_coding||c.*514A>G|||||51|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000444207|protein_coding||c.*747A>G|||||173|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000465418|processed_transcript||n.*413A>G|||||4925|,G|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000266087|protein_coding|3/8|c.645+32A>G||||||,G|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|2/7|n.*224+32A>G||||||,G|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|3/8|n.*343+32A>G||||||,G|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000492535|retained_intron|3/6|n.481+32A>G||||||,G|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000382058|protein_coding|3/8|c.408+32A>G||||||,G|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000397426|protein_coding|3/8|c.303+32A>G|||||| 22 32881102 . C T . . ANN=T|synonymous_variant|LOW|FBXO7|ENSG00000100225|transcript|ENST00000266087|protein_coding|4/9|c.693C>T|p.Ser231Ser|1020/2195|693/1569|231/522||,T|synonymous_variant|LOW|FBXO7|ENSG00000100225|transcript|ENST00000382058|protein_coding|4/9|c.456C>T|p.Ser152Ser|581/1758|456/1332|152/443||,T|synonymous_variant|LOW|FBXO7|ENSG00000100225|transcript|ENST00000397426|protein_coding|4/9|c.351C>T|p.Ser117Ser|713/1888|351/1227|117/408||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|5/9|c.693C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|7/9|c.693C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|3/9|c.693C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|6/9|c.693C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|4/9|c.693C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|5/9|c.456C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|7/9|c.456C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|3/9|c.456C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|6/9|c.456C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|4/9|c.456C>T||||||,T|3_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|3/8|n.*272C>T|||||1215|,T|3_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|4/9|n.*391C>T|||||5955|,T|upstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000484607|retained_intron||n.-1C>T|||||2173|,T|downstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000452138|protein_coding||c.*514C>T|||||1010|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000444207|protein_coding||c.*747C>T|||||1132|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|3/8|n.*272C>T||||||,T|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|4/9|n.*391C>T||||||,T|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000492535|retained_intron|4/7|n.529C>T|||||| 22 32881190 . G A . . ANN=A|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000266087|protein_coding|4/9|c.781G>A|p.Val261Ile|1108/2195|781/1569|261/522||,A|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000382058|protein_coding|4/9|c.544G>A|p.Val182Ile|669/1758|544/1332|182/443||,A|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000397426|protein_coding|4/9|c.439G>A|p.Val147Ile|801/1888|439/1227|147/408||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|5/9|c.781G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|7/9|c.781G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|3/9|c.781G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|6/9|c.781G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|4/9|c.781G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|beta_strand|ENST00000266087|protein_coding|5/9|c.781G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|beta_strand|ENST00000266087|protein_coding|4/9|c.781G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|5/9|c.544G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|7/9|c.544G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|3/9|c.544G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|6/9|c.544G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|4/9|c.544G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|beta_strand|ENST00000382058|protein_coding|5/9|c.544G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|beta_strand|ENST00000382058|protein_coding|4/9|c.544G>A||||||,A|3_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|3/8|n.*360G>A|||||1303|,A|3_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|4/9|n.*479G>A|||||6043|,A|upstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000484607|retained_intron||n.-1G>A|||||2085|,A|downstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000452138|protein_coding||c.*514G>A|||||1098|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000444207|protein_coding||c.*747G>A|||||1220|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|3/8|n.*360G>A||||||,A|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|4/9|n.*479G>A||||||,A|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000492535|retained_intron|4/7|n.617G>A|||||| 22 32881225 . G A . . ANN=A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|5/9|c.787+29G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|7/9|c.787+29G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|3/9|c.787+29G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|6/9|c.787+29G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|4/9|c.787+29G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|beta_strand|ENST00000266087|protein_coding|5/9|c.787+29G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|beta_strand|ENST00000266087|protein_coding|4/9|c.787+29G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|5/9|c.550+29G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|7/9|c.550+29G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|3/9|c.550+29G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|6/9|c.550+29G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|4/9|c.550+29G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|beta_strand|ENST00000382058|protein_coding|5/9|c.550+29G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|beta_strand|ENST00000382058|protein_coding|4/9|c.550+29G>A||||||,A|upstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000484607|retained_intron||n.-1G>A|||||2050|,A|downstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000452138|protein_coding||c.*514G>A|||||1133|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000444207|protein_coding||c.*747G>A|||||1255|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000266087|protein_coding|4/8|c.787+29G>A||||||,A|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|3/7|n.*366+29G>A||||||,A|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|4/8|n.*485+29G>A||||||,A|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000492535|retained_intron|4/6|n.623+29G>A||||||,A|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000382058|protein_coding|4/8|c.550+29G>A||||||,A|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000397426|protein_coding|4/8|c.445+29G>A|||||| 22 32881243 . C T . . ANN=T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|5/9|c.787+47C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|7/9|c.787+47C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|3/9|c.787+47C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|6/9|c.787+47C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|4/9|c.787+47C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|beta_strand|ENST00000266087|protein_coding|5/9|c.787+47C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|beta_strand|ENST00000266087|protein_coding|4/9|c.787+47C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|5/9|c.550+47C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|7/9|c.550+47C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|3/9|c.550+47C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|6/9|c.550+47C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|4/9|c.550+47C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|beta_strand|ENST00000382058|protein_coding|5/9|c.550+47C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|beta_strand|ENST00000382058|protein_coding|4/9|c.550+47C>T||||||,T|upstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000484607|retained_intron||n.-1C>T|||||2032|,T|downstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000452138|protein_coding||c.*514C>T|||||1151|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000444207|protein_coding||c.*747C>T|||||1273|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000266087|protein_coding|4/8|c.787+47C>T||||||,T|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|3/7|n.*366+47C>T||||||,T|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|4/8|n.*485+47C>T||||||,T|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000492535|retained_intron|4/6|n.623+47C>T||||||,T|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000382058|protein_coding|4/8|c.550+47C>T||||||,T|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000397426|protein_coding|4/8|c.445+47C>T|||||| 22 32883747 . A G . . ANN=G|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000266087|protein_coding|5/9|c.803A>G|p.Asn268Ser|1130/2195|803/1569|268/522||,G|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000382058|protein_coding|5/9|c.566A>G|p.Asn189Ser|691/1758|566/1332|189/443||,G|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000397426|protein_coding|5/9|c.461A>G|p.Asn154Ser|823/1888|461/1227|154/408||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|5/9|c.803A>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|7/9|c.803A>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|3/9|c.803A>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|6/9|c.803A>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|4/9|c.803A>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|5/9|c.566A>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|7/9|c.566A>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|3/9|c.566A>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|6/9|c.566A>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|4/9|c.566A>G||||||,G|3_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|4/8|n.*382A>G|||||3860|,G|3_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|5/9|n.*501A>G|||||8600|,G|downstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000452138|protein_coding||c.*514A>G|||||3655|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000444207|protein_coding||c.*747A>G|||||3777|WARNING_TRANSCRIPT_NO_STOP_CODON,G|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|4/8|n.*382A>G||||||,G|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|5/9|n.*501A>G||||||,G|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000492535|retained_intron|5/7|n.639A>G||||||,G|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000484607|retained_intron|1/2|n.473A>G|||||| 22 32883853 . T C . . ANN=C|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|5/9|c.871+38T>C||||||,C|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|7/9|c.871+38T>C||||||,C|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|3/9|c.871+38T>C||||||,C|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|6/9|c.871+38T>C||||||,C|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|4/9|c.871+38T>C||||||,C|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|5/9|c.634+38T>C||||||,C|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|7/9|c.634+38T>C||||||,C|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|3/9|c.634+38T>C||||||,C|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|6/9|c.634+38T>C||||||,C|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|4/9|c.634+38T>C||||||,C|downstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000452138|protein_coding||c.*514T>C|||||3761|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000444207|protein_coding||c.*747T>C|||||3883|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000266087|protein_coding|5/8|c.871+38T>C||||||,C|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|4/7|n.*450+38T>C||||||,C|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|5/8|n.*569+38T>C||||||,C|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000382058|protein_coding|5/8|c.634+38T>C||||||,C|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000397426|protein_coding|5/8|c.529+38T>C||||||,C|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000484607|retained_intron|1/1|n.541+38T>C||||||,C|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000492535|retained_intron|5/7|n.745T>C|||||| 22 32887150 . C T . . ANN=T|synonymous_variant|LOW|FBXO7|ENSG00000100225|transcript|ENST00000266087|protein_coding|6/9|c.949C>T|p.Leu317Leu|1276/2195|949/1569|317/522||,T|synonymous_variant|LOW|FBXO7|ENSG00000100225|transcript|ENST00000382058|protein_coding|6/9|c.712C>T|p.Leu238Leu|837/1758|712/1332|238/443||,T|synonymous_variant|LOW|FBXO7|ENSG00000100225|transcript|ENST00000397426|protein_coding|6/9|c.607C>T|p.Leu203Leu|969/1888|607/1227|203/408||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|5/9|c.949C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|7/9|c.949C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|3/9|c.949C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|6/9|c.949C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|4/9|c.949C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|helix|ENST00000266087|protein_coding|7/9|c.949C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|helix|ENST00000266087|protein_coding|6/9|c.949C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|5/9|c.712C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|7/9|c.712C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|3/9|c.712C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|6/9|c.712C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|4/9|c.712C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|helix|ENST00000382058|protein_coding|7/9|c.712C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|helix|ENST00000382058|protein_coding|6/9|c.712C>T||||||,T|3_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|5/8|n.*528C>T|||||7263|,T|3_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|6/9|n.*647C>T|||||12003|,T|downstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000484607|retained_intron||n.*569C>T|||||50|,T|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|5/8|n.*528C>T||||||,T|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|6/9|n.*647C>T||||||,T|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000492535|retained_intron|5/7|n.4042C>T|||||| 22 32889065 . C G . . ANN=G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|5/9|c.968-27C>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|7/9|c.968-27C>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|3/9|c.968-27C>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|6/9|c.968-27C>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|4/9|c.968-27C>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|helix|ENST00000266087|protein_coding|7/9|c.968-27C>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|helix|ENST00000266087|protein_coding|6/9|c.968-27C>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|5/9|c.731-27C>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|7/9|c.731-27C>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|3/9|c.731-27C>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|6/9|c.731-27C>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|4/9|c.731-27C>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|helix|ENST00000382058|protein_coding|7/9|c.731-27C>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|helix|ENST00000382058|protein_coding|6/9|c.731-27C>G||||||,G|downstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000484607|retained_intron||n.*569C>G|||||1965|,G|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000266087|protein_coding|6/8|c.968-27C>G||||||,G|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|5/7|n.*547-27C>G||||||,G|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|6/8|n.*666-27C>G||||||,G|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000382058|protein_coding|6/8|c.731-27C>G||||||,G|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000397426|protein_coding|6/8|c.626-27C>G||||||,G|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000492535|retained_intron|5/7|n.5957C>G|||||| 22 32889077 . T C . . ANN=C|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|5/9|c.968-15T>C||||||,C|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|7/9|c.968-15T>C||||||,C|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|3/9|c.968-15T>C||||||,C|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|6/9|c.968-15T>C||||||,C|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|4/9|c.968-15T>C||||||,C|sequence_feature|LOW|FBXO7|ENSG00000100225|helix|ENST00000266087|protein_coding|7/9|c.968-15T>C||||||,C|sequence_feature|LOW|FBXO7|ENSG00000100225|helix|ENST00000266087|protein_coding|6/9|c.968-15T>C||||||,C|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|5/9|c.731-15T>C||||||,C|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|7/9|c.731-15T>C||||||,C|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|3/9|c.731-15T>C||||||,C|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|6/9|c.731-15T>C||||||,C|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|4/9|c.731-15T>C||||||,C|sequence_feature|LOW|FBXO7|ENSG00000100225|helix|ENST00000382058|protein_coding|7/9|c.731-15T>C||||||,C|sequence_feature|LOW|FBXO7|ENSG00000100225|helix|ENST00000382058|protein_coding|6/9|c.731-15T>C||||||,C|downstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000484607|retained_intron||n.*569T>C|||||1977|,C|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000266087|protein_coding|6/8|c.968-15T>C||||||,C|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|5/7|n.*547-15T>C||||||,C|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|6/8|n.*666-15T>C||||||,C|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000382058|protein_coding|6/8|c.731-15T>C||||||,C|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000397426|protein_coding|6/8|c.626-15T>C||||||,C|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000492535|retained_intron|5/7|n.5969T>C|||||| 22 32889078 . T G . . ANN=G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|5/9|c.968-14T>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|7/9|c.968-14T>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|3/9|c.968-14T>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|6/9|c.968-14T>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|4/9|c.968-14T>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|helix|ENST00000266087|protein_coding|7/9|c.968-14T>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|helix|ENST00000266087|protein_coding|6/9|c.968-14T>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|5/9|c.731-14T>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|7/9|c.731-14T>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|3/9|c.731-14T>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|6/9|c.731-14T>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|4/9|c.731-14T>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|helix|ENST00000382058|protein_coding|7/9|c.731-14T>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|helix|ENST00000382058|protein_coding|6/9|c.731-14T>G||||||,G|downstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000484607|retained_intron||n.*569T>G|||||1978|,G|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000266087|protein_coding|6/8|c.968-14T>G||||||,G|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|5/7|n.*547-14T>G||||||,G|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|6/8|n.*666-14T>G||||||,G|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000382058|protein_coding|6/8|c.731-14T>G||||||,G|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000397426|protein_coding|6/8|c.626-14T>G||||||,G|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000492535|retained_intron|5/7|n.5970T>G|||||| 22 32889191 . C T . . ANN=T|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000266087|protein_coding|7/9|c.1067C>T|p.Ser356Phe|1394/2195|1067/1569|356/522||,T|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000382058|protein_coding|7/9|c.830C>T|p.Ser277Phe|955/1758|830/1332|277/443||,T|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000397426|protein_coding|7/9|c.725C>T|p.Ser242Phe|1087/1888|725/1227|242/408||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|domain:F-box|ENST00000266087|protein_coding|7/9|c.1067C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|domain:F-box|ENST00000382058|protein_coding|7/9|c.830C>T||||||,T|3_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|6/8|n.*646C>T|||||9304|,T|3_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|7/9|n.*765C>T|||||14044|,T|downstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000484607|retained_intron||n.*569C>T|||||2091|,T|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|6/8|n.*646C>T||||||,T|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|7/9|n.*765C>T||||||,T|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000492535|retained_intron|5/7|n.6083C>T|||||| 22 32889249 . A G . . ANN=G|synonymous_variant|LOW|FBXO7|ENSG00000100225|transcript|ENST00000266087|protein_coding|7/9|c.1125A>G|p.Leu375Leu|1452/2195|1125/1569|375/522||,G|synonymous_variant|LOW|FBXO7|ENSG00000100225|transcript|ENST00000382058|protein_coding|7/9|c.888A>G|p.Leu296Leu|1013/1758|888/1332|296/443||,G|synonymous_variant|LOW|FBXO7|ENSG00000100225|transcript|ENST00000397426|protein_coding|7/9|c.783A>G|p.Leu261Leu|1145/1888|783/1227|261/408||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|domain:F-box|ENST00000266087|protein_coding|7/9|c.1125A>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|domain:F-box|ENST00000382058|protein_coding|7/9|c.888A>G||||||,G|3_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|6/8|n.*704A>G|||||9362|,G|3_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|7/9|n.*823A>G|||||14102|,G|downstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000484607|retained_intron||n.*569A>G|||||2149|,G|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|6/8|n.*704A>G||||||,G|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|7/9|n.*823A>G||||||,G|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000492535|retained_intron|5/7|n.6141A>G|||||| 22 32889265 . C T . . ANN=T|stop_gained|HIGH|FBXO7|ENSG00000100225|transcript|ENST00000266087|protein_coding|7/9|c.1141C>T|p.Arg381*|1468/2195|1141/1569|381/522||,T|stop_gained|HIGH|FBXO7|ENSG00000100225|transcript|ENST00000382058|protein_coding|7/9|c.904C>T|p.Arg302*|1029/1758|904/1332|302/443||,T|stop_gained|HIGH|FBXO7|ENSG00000100225|transcript|ENST00000397426|protein_coding|7/9|c.799C>T|p.Arg267*|1161/1888|799/1227|267/408||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000266087|protein_coding|7/9|c.1141C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000266087|protein_coding|8/9|c.1141C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000266087|protein_coding|9/9|c.1141C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000382058|protein_coding|7/9|c.904C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000382058|protein_coding|9/9|c.904C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000382058|protein_coding|8/9|c.904C>T||||||,T|3_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|6/8|n.*720C>T|||||9378|,T|3_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|7/9|n.*839C>T|||||14118|,T|downstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000484607|retained_intron||n.*569C>T|||||2165|,T|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|6/8|n.*720C>T||||||,T|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|7/9|n.*839C>T||||||,T|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000492535|retained_intron|5/7|n.6157C>T|||||| 22 32889277 . C T . . ANN=T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000266087|protein_coding|7/9|c.1144+9C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000266087|protein_coding|8/9|c.1144+9C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000266087|protein_coding|9/9|c.1144+9C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000382058|protein_coding|7/9|c.907+9C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000382058|protein_coding|9/9|c.907+9C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000382058|protein_coding|8/9|c.907+9C>T||||||,T|downstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000484607|retained_intron||n.*569C>T|||||2177|,T|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000266087|protein_coding|7/8|c.1144+9C>T||||||,T|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|6/7|n.*723+9C>T||||||,T|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|7/8|n.*842+9C>T||||||,T|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000492535|retained_intron|5/6|n.6160+9C>T||||||,T|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000382058|protein_coding|7/8|c.907+9C>T||||||,T|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000397426|protein_coding|7/8|c.802+9C>T|||||| 22 32889287 . T C . . ANN=C|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000266087|protein_coding|7/9|c.1144+19T>C||||||,C|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000266087|protein_coding|8/9|c.1144+19T>C||||||,C|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000266087|protein_coding|9/9|c.1144+19T>C||||||,C|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000382058|protein_coding|7/9|c.907+19T>C||||||,C|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000382058|protein_coding|9/9|c.907+19T>C||||||,C|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000382058|protein_coding|8/9|c.907+19T>C||||||,C|downstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000484607|retained_intron||n.*569T>C|||||2187|,C|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000266087|protein_coding|7/8|c.1144+19T>C||||||,C|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|6/7|n.*723+19T>C||||||,C|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|7/8|n.*842+19T>C||||||,C|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000492535|retained_intron|5/6|n.6160+19T>C||||||,C|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000382058|protein_coding|7/8|c.907+19T>C||||||,C|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000397426|protein_coding|7/8|c.802+19T>C|||||| 22 32889293 . C T . . ANN=T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000266087|protein_coding|7/9|c.1144+25C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000266087|protein_coding|8/9|c.1144+25C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000266087|protein_coding|9/9|c.1144+25C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000382058|protein_coding|7/9|c.907+25C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000382058|protein_coding|9/9|c.907+25C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000382058|protein_coding|8/9|c.907+25C>T||||||,T|downstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000484607|retained_intron||n.*569C>T|||||2193|,T|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000266087|protein_coding|7/8|c.1144+25C>T||||||,T|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|6/7|n.*723+25C>T||||||,T|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|7/8|n.*842+25C>T||||||,T|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000492535|retained_intron|5/6|n.6160+25C>T||||||,T|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000382058|protein_coding|7/8|c.907+25C>T||||||,T|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000397426|protein_coding|7/8|c.802+25C>T|||||| 22 32891435 . G A . . ANN=A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000266087|protein_coding|7/9|c.1145-45G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000266087|protein_coding|8/9|c.1145-45G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000266087|protein_coding|9/9|c.1145-45G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000382058|protein_coding|7/9|c.908-45G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000382058|protein_coding|9/9|c.908-45G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000382058|protein_coding|8/9|c.908-45G>A||||||,A|downstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000484607|retained_intron||n.*569G>A|||||4335|,A|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000266087|protein_coding|7/8|c.1145-45G>A||||||,A|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|6/7|n.*724-45G>A||||||,A|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|7/8|n.*843-45G>A||||||,A|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000492535|retained_intron|5/6|n.6161-45G>A||||||,A|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000382058|protein_coding|7/8|c.908-45G>A||||||,A|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000397426|protein_coding|7/8|c.803-45G>A|||||| 22 32891535 . T G . . ANN=G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000266087|protein_coding|7/9|c.1182+18T>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000266087|protein_coding|8/9|c.1182+18T>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000266087|protein_coding|9/9|c.1182+18T>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000382058|protein_coding|7/9|c.945+18T>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000382058|protein_coding|9/9|c.945+18T>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000382058|protein_coding|8/9|c.945+18T>G||||||,G|downstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000484607|retained_intron||n.*569T>G|||||4435|,G|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000266087|protein_coding|8/8|c.1182+18T>G||||||,G|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|7/7|n.*761+18T>G||||||,G|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|8/8|n.*880+18T>G||||||,G|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000492535|retained_intron|6/6|n.6198+18T>G||||||,G|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000382058|protein_coding|8/8|c.945+18T>G||||||,G|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000397426|protein_coding|8/8|c.840+18T>G|||||| 22 32894169 . G A . . ANN=A|synonymous_variant|LOW|FBXO7|ENSG00000100225|transcript|ENST00000266087|protein_coding|9/9|c.1221G>A|p.Pro407Pro|1548/2195|1221/1569|407/522||,A|synonymous_variant|LOW|FBXO7|ENSG00000100225|transcript|ENST00000382058|protein_coding|9/9|c.984G>A|p.Pro328Pro|1109/1758|984/1332|328/443||,A|synonymous_variant|LOW|FBXO7|ENSG00000100225|transcript|ENST00000397426|protein_coding|9/9|c.879G>A|p.Pro293Pro|1241/1888|879/1227|293/408||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000266087|protein_coding|7/9|c.1221G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000266087|protein_coding|8/9|c.1221G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000266087|protein_coding|9/9|c.1221G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000382058|protein_coding|7/9|c.984G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000382058|protein_coding|9/9|c.984G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000382058|protein_coding|8/9|c.984G>A||||||,A|3_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|8/8|n.*800G>A|||||14282|,A|3_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|9/9|n.*919G>A|||||19022|,A|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|8/8|n.*800G>A||||||,A|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|9/9|n.*919G>A||||||,A|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000492535|retained_intron|7/7|n.6237G>A|||||| 22 32894198 . C G . . ANN=G|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000266087|protein_coding|9/9|c.1250C>G|p.Ser417Trp|1577/2195|1250/1569|417/522||,G|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000382058|protein_coding|9/9|c.1013C>G|p.Ser338Trp|1138/1758|1013/1332|338/443||,G|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000397426|protein_coding|9/9|c.908C>G|p.Ser303Trp|1270/1888|908/1227|303/408||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000266087|protein_coding|7/9|c.1250C>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000266087|protein_coding|8/9|c.1250C>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000266087|protein_coding|9/9|c.1250C>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000382058|protein_coding|7/9|c.1013C>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000382058|protein_coding|9/9|c.1013C>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000382058|protein_coding|8/9|c.1013C>G||||||,G|3_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|8/8|n.*829C>G|||||14311|,G|3_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|9/9|n.*948C>G|||||19051|,G|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|8/8|n.*829C>G||||||,G|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|9/9|n.*948C>G||||||,G|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000492535|retained_intron|7/7|n.6266C>G|||||| 22 32894219 . T A . . ANN=A|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000266087|protein_coding|9/9|c.1271T>A|p.Phe424Tyr|1598/2195|1271/1569|424/522||,A|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000382058|protein_coding|9/9|c.1034T>A|p.Phe345Tyr|1159/1758|1034/1332|345/443||,A|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000397426|protein_coding|9/9|c.929T>A|p.Phe310Tyr|1291/1888|929/1227|310/408||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000266087|protein_coding|7/9|c.1271T>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000266087|protein_coding|8/9|c.1271T>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000266087|protein_coding|9/9|c.1271T>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|compositionally_biased_region:Pro-rich|ENST00000266087|protein_coding|9/9|c.1271T>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000382058|protein_coding|7/9|c.1034T>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000382058|protein_coding|9/9|c.1034T>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000382058|protein_coding|8/9|c.1034T>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|compositionally_biased_region:Pro-rich|ENST00000382058|protein_coding|9/9|c.1034T>A||||||,A|3_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|8/8|n.*850T>A|||||14332|,A|3_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|9/9|n.*969T>A|||||19072|,A|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|8/8|n.*850T>A||||||,A|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|9/9|n.*969T>A||||||,A|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000492535|retained_intron|7/7|n.6287T>A|||||| 22 32894220 . C T . . ANN=T|synonymous_variant|LOW|FBXO7|ENSG00000100225|transcript|ENST00000266087|protein_coding|9/9|c.1272C>T|p.Phe424Phe|1599/2195|1272/1569|424/522||,T|synonymous_variant|LOW|FBXO7|ENSG00000100225|transcript|ENST00000382058|protein_coding|9/9|c.1035C>T|p.Phe345Phe|1160/1758|1035/1332|345/443||,T|synonymous_variant|LOW|FBXO7|ENSG00000100225|transcript|ENST00000397426|protein_coding|9/9|c.930C>T|p.Phe310Phe|1292/1888|930/1227|310/408||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000266087|protein_coding|7/9|c.1272C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000266087|protein_coding|8/9|c.1272C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000266087|protein_coding|9/9|c.1272C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|compositionally_biased_region:Pro-rich|ENST00000266087|protein_coding|9/9|c.1272C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000382058|protein_coding|7/9|c.1035C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000382058|protein_coding|9/9|c.1035C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000382058|protein_coding|8/9|c.1035C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|compositionally_biased_region:Pro-rich|ENST00000382058|protein_coding|9/9|c.1035C>T||||||,T|3_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|8/8|n.*851C>T|||||14333|,T|3_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|9/9|n.*970C>T|||||19073|,T|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|8/8|n.*851C>T||||||,T|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|9/9|n.*970C>T||||||,T|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000492535|retained_intron|7/7|n.6288C>T|||||| 22 32894453 . A G . . ANN=G|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000266087|protein_coding|9/9|c.1505A>G|p.Asn502Ser|1832/2195|1505/1569|502/522||,G|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000382058|protein_coding|9/9|c.1268A>G|p.Asn423Ser|1393/1758|1268/1332|423/443||,G|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000397426|protein_coding|9/9|c.1163A>G|p.Asn388Ser|1525/1888|1163/1227|388/408||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000266087|protein_coding|7/9|c.1505A>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000266087|protein_coding|8/9|c.1505A>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000266087|protein_coding|9/9|c.1505A>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|compositionally_biased_region:Pro-rich|ENST00000266087|protein_coding|9/9|c.1505A>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000382058|protein_coding|7/9|c.1268A>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000382058|protein_coding|9/9|c.1268A>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000382058|protein_coding|8/9|c.1268A>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|compositionally_biased_region:Pro-rich|ENST00000382058|protein_coding|9/9|c.1268A>G||||||,G|3_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|8/8|n.*1084A>G|||||14566|,G|3_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|9/9|n.*1203A>G|||||19306|,G|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|8/8|n.*1084A>G||||||,G|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|9/9|n.*1203A>G||||||,G|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000492535|retained_intron|7/7|n.6521A>G|||||| 22 32909637 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|13/13|c.*42G>A|||||42|,T|3_prime_UTR_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|14/14|c.*42G>A|||||42|,T|downstream_gene_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000467095|processed_transcript||n.*742G>A|||||25|,T|downstream_gene_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000461446|retained_intron||n.*713G>A|||||789|,T|downstream_gene_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000459990|processed_transcript||n.*574G>A|||||4402|,T|downstream_gene_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000468922|processed_transcript||n.*507G>A|||||4543|,T|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000483062|retained_intron|4/4|n.753G>A|||||| 22 32909653 . C G . . ANN=G|3_prime_UTR_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|13/13|c.*26G>C|||||26|,G|3_prime_UTR_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|14/14|c.*26G>C|||||26|,G|downstream_gene_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000467095|processed_transcript||n.*742G>C|||||9|,G|downstream_gene_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000461446|retained_intron||n.*713G>C|||||773|,G|downstream_gene_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000459990|processed_transcript||n.*574G>C|||||4386|,G|downstream_gene_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000468922|processed_transcript||n.*507G>C|||||4527|,G|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000483062|retained_intron|4/4|n.737G>C|||||| 22 32909751 . T A . . ANN=A|synonymous_variant|LOW|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|13/13|c.1671A>T|p.Pro557Pro|1830/3039|1671/1743|557/580||,A|synonymous_variant|LOW|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|14/14|c.1671A>T|p.Pro557Pro|1914/3126|1671/1743|557/580||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:E|ENST00000332840|protein_coding|12/13|c.1671A>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:E|ENST00000332840|protein_coding|13/13|c.1671A>T||||||,A|downstream_gene_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000461446|retained_intron||n.*713A>T|||||675|,A|downstream_gene_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000459990|processed_transcript||n.*574A>T|||||4288|,A|downstream_gene_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000468922|processed_transcript||n.*507A>T|||||4429|,A|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000483062|retained_intron|4/4|n.639A>T||||||,A|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000467095|processed_transcript|3/3|n.653A>T|||||| 22 32909824 . G C . . ANN=C|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:E|ENST00000332840|protein_coding|12/13|c.1611-13C>G||||||,C|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:E|ENST00000332840|protein_coding|13/13|c.1611-13C>G||||||,C|downstream_gene_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000461446|retained_intron||n.*713C>G|||||602|,C|downstream_gene_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000459990|processed_transcript||n.*574C>G|||||4215|,C|downstream_gene_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000468922|processed_transcript||n.*507C>G|||||4356|,C|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|12/12|c.1611-13C>G||||||,C|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|13/13|c.1611-13C>G||||||,C|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000483062|retained_intron|3/3|n.579-13C>G||||||,C|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000467095|processed_transcript|2/2|n.593-13C>G|||||| 22 32909831 . G A . . ANN=A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:E|ENST00000332840|protein_coding|12/13|c.1611-20C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:E|ENST00000332840|protein_coding|13/13|c.1611-20C>T||||||,A|downstream_gene_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000461446|retained_intron||n.*713C>T|||||595|,A|downstream_gene_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000459990|processed_transcript||n.*574C>T|||||4208|,A|downstream_gene_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000468922|processed_transcript||n.*507C>T|||||4349|,A|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|12/12|c.1611-20C>T||||||,A|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|13/13|c.1611-20C>T||||||,A|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000483062|retained_intron|3/3|n.579-20C>T||||||,A|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000467095|processed_transcript|2/2|n.593-20C>T|||||| 22 32913997 . T C . . ANN=C|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:E|ENST00000332840|protein_coding|12/13|c.1610+33A>G||||||,C|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:E|ENST00000332840|protein_coding|13/13|c.1610+33A>G||||||,C|downstream_gene_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000459990|processed_transcript||n.*574A>G|||||42|,C|downstream_gene_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000468922|processed_transcript||n.*507A>G|||||183|,C|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|12/12|c.1610+33A>G||||||,C|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|13/13|c.1610+33A>G||||||,C|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000483062|retained_intron|3/3|n.578+33A>G||||||,C|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000467095|processed_transcript|2/2|n.592+33A>G||||||,C|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000461446|retained_intron|2/2|n.501+33A>G|||||| 22 32914067 . C G . . ANN=G|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|12/13|c.1573G>C|p.Glu525Gln|1732/3039|1573/1743|525/580||,G|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|13/14|c.1573G>C|p.Glu525Gln|1816/3126|1573/1743|525/580||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|12/13|c.1573G>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|10/13|c.1573G>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|11/13|c.1573G>C||||||,G|downstream_gene_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000468922|processed_transcript||n.*507G>C|||||113|,G|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000483062|retained_intron|3/4|n.541G>C||||||,G|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000467095|processed_transcript|2/3|n.555G>C||||||,G|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000461446|retained_intron|2/3|n.464G>C||||||,G|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000459990|processed_transcript|3/3|n.546G>C|||||| 22 32914089 . A G . . ANN=G|synonymous_variant|LOW|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|12/13|c.1551T>C|p.Arg517Arg|1710/3039|1551/1743|517/580||,G|synonymous_variant|LOW|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|13/14|c.1551T>C|p.Arg517Arg|1794/3126|1551/1743|517/580||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|12/13|c.1551T>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|10/13|c.1551T>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|11/13|c.1551T>C||||||,G|downstream_gene_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000468922|processed_transcript||n.*507T>C|||||91|,G|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000483062|retained_intron|3/4|n.519T>C||||||,G|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000467095|processed_transcript|2/3|n.533T>C||||||,G|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000461446|retained_intron|2/3|n.442T>C||||||,G|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000459990|processed_transcript|3/3|n.524T>C|||||| 22 32914231 . C T . . ANN=T|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|12/13|c.1409G>A|p.Ser470Asn|1568/3039|1409/1743|470/580||,T|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|13/14|c.1409G>A|p.Ser470Asn|1652/3126|1409/1743|470/580||,T|sequence_feature|MODERATE|SYN3|ENSG00000185666|amino_acid_modification:Phosphoserine|ENST00000332840|protein_coding|12/13|c.1409G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|12/13|c.1409G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|10/13|c.1409G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|11/13|c.1409G>A||||||,T|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000483062|retained_intron|3/4|n.377G>A||||||,T|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000467095|processed_transcript|2/3|n.391G>A||||||,T|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000461446|retained_intron|2/3|n.300G>A||||||,T|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000459990|processed_transcript|3/3|n.382G>A||||||,T|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000468922|processed_transcript|4/4|n.456G>A|||||| 22 32914233 . C T . . ANN=T|synonymous_variant|LOW|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|12/13|c.1407G>A|p.Leu469Leu|1566/3039|1407/1743|469/580||,T|synonymous_variant|LOW|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|13/14|c.1407G>A|p.Leu469Leu|1650/3126|1407/1743|469/580||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|12/13|c.1407G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|10/13|c.1407G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|11/13|c.1407G>A||||||,T|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000483062|retained_intron|3/4|n.375G>A||||||,T|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000467095|processed_transcript|2/3|n.389G>A||||||,T|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000461446|retained_intron|2/3|n.298G>A||||||,T|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000459990|processed_transcript|3/3|n.380G>A||||||,T|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000468922|processed_transcript|4/4|n.454G>A|||||| 22 32914312 . C T . . ANN=T|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|12/13|c.1328G>A|p.Arg443His|1487/3039|1328/1743|443/580||,T|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|13/14|c.1328G>A|p.Arg443His|1571/3126|1328/1743|443/580||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|12/13|c.1328G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|10/13|c.1328G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|11/13|c.1328G>A||||||,T|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000483062|retained_intron|3/4|n.296G>A||||||,T|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000467095|processed_transcript|2/3|n.310G>A||||||,T|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000461446|retained_intron|2/3|n.219G>A||||||,T|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000459990|processed_transcript|3/3|n.301G>A||||||,T|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000468922|processed_transcript|4/4|n.375G>A|||||| 22 32914344 . G A . . ANN=A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|12/13|c.1319-23C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|10/13|c.1319-23C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|11/13|c.1319-23C>T||||||,A|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|11/12|c.1319-23C>T||||||,A|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|12/13|c.1319-23C>T||||||,A|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000483062|retained_intron|2/3|n.287-23C>T||||||,A|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000467095|processed_transcript|1/2|n.301-23C>T||||||,A|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000461446|retained_intron|1/2|n.210-23C>T||||||,A|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000459990|processed_transcript|2/2|n.292-23C>T||||||,A|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000468922|processed_transcript|3/3|n.366-23C>T|||||| 22 32923890 . C A . . ANN=A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|12/13|c.1318+15G>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|10/13|c.1318+15G>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|11/13|c.1318+15G>T||||||,A|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|11/12|c.1318+15G>T||||||,A|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|12/13|c.1318+15G>T||||||,A|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000483062|retained_intron|2/3|n.286+15G>T||||||,A|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000461446|retained_intron|1/2|n.209+971G>T||||||,A|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000459990|processed_transcript|2/2|n.291+971G>T||||||,A|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000468922|processed_transcript|3/3|n.365+15G>T|||||| 22 32923919 . C T . . ANN=T|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|11/13|c.1304G>A|p.Arg435His|1463/3039|1304/1743|435/580||,T|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|12/14|c.1304G>A|p.Arg435His|1547/3126|1304/1743|435/580||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|12/13|c.1304G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|10/13|c.1304G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|11/13|c.1304G>A||||||,T|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000461446|retained_intron|1/2|n.209+942G>A||||||,T|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000459990|processed_transcript|2/2|n.291+942G>A||||||,T|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000483062|retained_intron|2/4|n.272G>A||||||,T|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000468922|processed_transcript|3/4|n.351G>A|||||| 22 32923920 . G T . . ANN=T|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|11/13|c.1303C>A|p.Arg435Ser|1462/3039|1303/1743|435/580||,T|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|12/14|c.1303C>A|p.Arg435Ser|1546/3126|1303/1743|435/580||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|12/13|c.1303C>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|10/13|c.1303C>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|11/13|c.1303C>A||||||,T|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000461446|retained_intron|1/2|n.209+941C>A||||||,T|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000459990|processed_transcript|2/2|n.291+941C>A||||||,T|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000483062|retained_intron|2/4|n.271C>A||||||,T|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000468922|processed_transcript|3/4|n.350C>A|||||| 22 32923949 . A G . . ANN=G|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|11/13|c.1274T>C|p.Leu425Pro|1433/3039|1274/1743|425/580||,G|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|12/14|c.1274T>C|p.Leu425Pro|1517/3126|1274/1743|425/580||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|12/13|c.1274T>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|10/13|c.1274T>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|11/13|c.1274T>C||||||,G|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000461446|retained_intron|1/2|n.209+912T>C||||||,G|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000459990|processed_transcript|2/2|n.291+912T>C||||||,G|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000483062|retained_intron|2/4|n.242T>C||||||,G|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000468922|processed_transcript|3/4|n.321T>C|||||| 22 32923979 . T C . . ANN=C|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|11/13|c.1244A>G|p.Lys415Arg|1403/3039|1244/1743|415/580||,C|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|12/14|c.1244A>G|p.Lys415Arg|1487/3126|1244/1743|415/580||,C|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|12/13|c.1244A>G||||||,C|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|10/13|c.1244A>G||||||,C|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|11/13|c.1244A>G||||||,C|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000461446|retained_intron|1/2|n.209+882A>G||||||,C|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000459990|processed_transcript|2/2|n.291+882A>G||||||,C|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000483062|retained_intron|2/4|n.212A>G||||||,C|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000468922|processed_transcript|3/4|n.291A>G|||||| 22 32924024 . A G . . ANN=G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|12/13|c.1231-32T>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|10/13|c.1231-32T>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|11/13|c.1231-32T>C||||||,G|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|10/12|c.1231-32T>C||||||,G|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|11/13|c.1231-32T>C||||||,G|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000483062|retained_intron|1/3|n.199-32T>C||||||,G|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000461446|retained_intron|1/2|n.209+837T>C||||||,G|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000459990|processed_transcript|2/2|n.291+837T>C||||||,G|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000468922|processed_transcript|2/3|n.278-32T>C|||||| 22 32924840 . C T . . ANN=T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|12/13|c.1230+21G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|10/13|c.1230+21G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|11/13|c.1230+21G>A||||||,T|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|10/12|c.1230+21G>A||||||,T|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|11/13|c.1230+21G>A||||||,T|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000483062|retained_intron|1/3|n.198+21G>A||||||,T|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000461446|retained_intron|1/2|n.209+21G>A||||||,T|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000459990|processed_transcript|2/2|n.291+21G>A||||||,T|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000468922|processed_transcript|2/3|n.277+21G>A|||||| 22 32924854 . G T . . ANN=T|splice_region_variant&intron_variant|LOW|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|10/12|c.1230+7C>A||||||,T|splice_region_variant&intron_variant|LOW|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|11/13|c.1230+7C>A||||||,T|splice_region_variant&intron_variant|LOW|SYN3|ENSG00000185666|transcript|ENST00000483062|retained_intron|1/3|n.198+7C>A||||||,T|splice_region_variant&intron_variant|LOW|SYN3|ENSG00000185666|transcript|ENST00000461446|retained_intron|1/2|n.209+7C>A||||||,T|splice_region_variant&intron_variant|LOW|SYN3|ENSG00000185666|transcript|ENST00000459990|processed_transcript|2/2|n.291+7C>A||||||,T|splice_region_variant&intron_variant|LOW|SYN3|ENSG00000185666|transcript|ENST00000468922|processed_transcript|2/3|n.277+7C>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|12/13|c.1230+7C>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|10/13|c.1230+7C>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|11/13|c.1230+7C>A|||||| 22 32929861 . C G . . ANN=G|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|9/13|c.1013G>C|p.Ser338Thr|1172/3039|1013/1743|338/580||,G|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|10/14|c.1013G>C|p.Ser338Thr|1256/3126|1013/1743|338/580||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|3/13|c.1013G>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|10/13|c.1013G>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|2/13|c.1013G>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|5/13|c.1013G>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|6/13|c.1013G>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|8/13|c.1013G>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|9/13|c.1013G>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|1/13|c.1013G>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|7/13|c.1013G>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|4/13|c.1013G>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|helix|ENST00000332840|protein_coding|8/13|c.1013G>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|helix|ENST00000332840|protein_coding|9/13|c.1013G>C||||||,G|upstream_gene_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000483062|retained_intron||n.-1G>C|||||4803|,G|upstream_gene_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000461446|retained_intron||n.-1G>C|||||4792|,G|upstream_gene_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000459990|processed_transcript||n.-1G>C|||||3672|,G|upstream_gene_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000468922|processed_transcript||n.-1G>C|||||3686| 22 32934139 . C T . . ANN=T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|3/13|c.918-43G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|10/13|c.918-43G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|2/13|c.918-43G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|5/13|c.918-43G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|6/13|c.918-43G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|8/13|c.918-43G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|9/13|c.918-43G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|1/13|c.918-43G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|7/13|c.918-43G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|4/13|c.918-43G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|beta_strand|ENST00000332840|protein_coding|8/13|c.918-43G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|beta_strand|ENST00000332840|protein_coding|7/13|c.918-43G>A||||||,T|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|7/12|c.918-43G>A||||||,T|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|8/13|c.918-43G>A|||||| 22 32934145 . T G . . ANN=G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|3/13|c.918-49A>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|10/13|c.918-49A>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|2/13|c.918-49A>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|5/13|c.918-49A>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|6/13|c.918-49A>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|8/13|c.918-49A>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|9/13|c.918-49A>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|1/13|c.918-49A>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|7/13|c.918-49A>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|4/13|c.918-49A>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|beta_strand|ENST00000332840|protein_coding|8/13|c.918-49A>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|beta_strand|ENST00000332840|protein_coding|7/13|c.918-49A>C||||||,G|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|7/12|c.918-49A>C||||||,G|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|8/13|c.918-49A>C|||||| 22 32937601 . G A . . ANN=A|synonymous_variant|LOW|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|7/13|c.873C>T|p.Tyr291Tyr|1032/3039|873/1743|291/580||,A|synonymous_variant|LOW|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|8/14|c.873C>T|p.Tyr291Tyr|1116/3126|873/1743|291/580||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|3/13|c.873C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|10/13|c.873C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|2/13|c.873C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|5/13|c.873C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|6/13|c.873C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|8/13|c.873C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|9/13|c.873C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|1/13|c.873C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|7/13|c.873C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|4/13|c.873C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|beta_strand|ENST00000332840|protein_coding|7/13|c.873C>T|||||| 22 32937633 . C T . . ANN=T|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|7/13|c.841G>A|p.Ala281Thr|1000/3039|841/1743|281/580||,T|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|8/14|c.841G>A|p.Ala281Thr|1084/3126|841/1743|281/580||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|3/13|c.841G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|10/13|c.841G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|2/13|c.841G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|5/13|c.841G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|6/13|c.841G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|8/13|c.841G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|9/13|c.841G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|1/13|c.841G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|7/13|c.841G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|4/13|c.841G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|beta_strand|ENST00000332840|protein_coding|7/13|c.841G>A|||||| 22 32937658 . G A . . ANN=A|synonymous_variant|LOW|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|7/13|c.816C>T|p.Ser272Ser|975/3039|816/1743|272/580||,A|synonymous_variant|LOW|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|8/14|c.816C>T|p.Ser272Ser|1059/3126|816/1743|272/580||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|3/13|c.816C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|10/13|c.816C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|2/13|c.816C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|5/13|c.816C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|6/13|c.816C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|8/13|c.816C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|9/13|c.816C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|1/13|c.816C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|7/13|c.816C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|4/13|c.816C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|helix|ENST00000332840|protein_coding|7/13|c.816C>T|||||| 22 32937720 . G GA . . ANN=A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|3/13|c.775-22dupT||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|10/13|c.775-22dupT||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|2/13|c.775-22dupT||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|5/13|c.775-22dupT||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|6/13|c.775-22dupT||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|8/13|c.775-22dupT||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|9/13|c.775-22dupT||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|1/13|c.775-22dupT||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|7/13|c.775-22dupT||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|4/13|c.775-22dupT||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|beta_strand|ENST00000332840|protein_coding|6/13|c.775-22dupT||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|beta_strand|ENST00000332840|protein_coding|7/13|c.775-22dupT||||||,A|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|6/12|c.775-22dupT||||||,A|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|7/13|c.775-22dupT|||||| 22 32937740 . T C . . ANN=C|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|3/13|c.775-41A>G||||||,C|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|10/13|c.775-41A>G||||||,C|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|2/13|c.775-41A>G||||||,C|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|5/13|c.775-41A>G||||||,C|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|6/13|c.775-41A>G||||||,C|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|8/13|c.775-41A>G||||||,C|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|9/13|c.775-41A>G||||||,C|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|1/13|c.775-41A>G||||||,C|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|7/13|c.775-41A>G||||||,C|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|4/13|c.775-41A>G||||||,C|sequence_feature|LOW|SYN3|ENSG00000185666|beta_strand|ENST00000332840|protein_coding|6/13|c.775-41A>G||||||,C|sequence_feature|LOW|SYN3|ENSG00000185666|beta_strand|ENST00000332840|protein_coding|7/13|c.775-41A>G||||||,C|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|6/12|c.775-41A>G||||||,C|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|7/13|c.775-41A>G|||||| 22 32992633 . T G . . ANN=G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|3/13|c.774+27A>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|10/13|c.774+27A>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|2/13|c.774+27A>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|5/13|c.774+27A>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|6/13|c.774+27A>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|8/13|c.774+27A>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|9/13|c.774+27A>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|1/13|c.774+27A>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|7/13|c.774+27A>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|4/13|c.774+27A>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|beta_strand|ENST00000332840|protein_coding|6/13|c.774+27A>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|beta_strand|ENST00000332840|protein_coding|7/13|c.774+27A>C||||||,G|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|6/12|c.774+27A>C||||||,G|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|7/13|c.774+27A>C|||||| 22 32992675 . G A . . ANN=A|synonymous_variant|LOW|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|6/13|c.759C>T|p.His253His|918/3039|759/1743|253/580||,A|synonymous_variant|LOW|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|7/14|c.759C>T|p.His253His|1002/3126|759/1743|253/580||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|3/13|c.759C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|10/13|c.759C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|2/13|c.759C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|5/13|c.759C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|6/13|c.759C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|8/13|c.759C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|9/13|c.759C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|1/13|c.759C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|7/13|c.759C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|4/13|c.759C>T|||||| 22 32992729 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|5/12|c.712-7C>T||||||,A|splice_region_variant&intron_variant|LOW|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|6/13|c.712-7C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|3/13|c.712-7C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|10/13|c.712-7C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|2/13|c.712-7C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|5/13|c.712-7C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|6/13|c.712-7C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|8/13|c.712-7C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|9/13|c.712-7C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|1/13|c.712-7C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|7/13|c.712-7C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|4/13|c.712-7C>T|||||| 22 33245404 . T G . . ANN=G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|3/13|c.711+15498A>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|10/13|c.711+15498A>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|2/13|c.711+15498A>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|5/13|c.711+15498A>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|6/13|c.711+15498A>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|8/13|c.711+15498A>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|9/13|c.711+15498A>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|1/13|c.711+15498A>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|7/13|c.711+15498A>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|4/13|c.711+15498A>C||||||,G|sequence_feature|LOW|TIMP3|ENSG00000100234|disulfide_bond|ENST00000266085|protein_coding|1/5|c.122-35T>G||||||,G|sequence_feature|LOW|TIMP3|ENSG00000100234|disulfide_bond|ENST00000266085|protein_coding|2/5|c.122-35T>G||||||,G|sequence_feature|LOW|TIMP3|ENSG00000100234|disulfide_bond|ENST00000266085|protein_coding|3/5|c.122-35T>G||||||,G|sequence_feature|LOW|TIMP3|ENSG00000100234|domain:NTR|ENST00000266085|protein_coding|1/5|c.122-35T>G||||||,G|sequence_feature|LOW|TIMP3|ENSG00000100234|domain:NTR|ENST00000266085|protein_coding|2/5|c.122-35T>G||||||,G|sequence_feature|LOW|TIMP3|ENSG00000100234|domain:NTR|ENST00000266085|protein_coding|3/5|c.122-35T>G||||||,G|sequence_feature|LOW|TIMP3|ENSG00000100234|domain:NTR|ENST00000266085|protein_coding|4/5|c.122-35T>G||||||,G|sequence_feature|LOW|TIMP3|ENSG00000100234|disulfide_bond|ENST00000266085|protein_coding|4/5|c.122-35T>G||||||,G|sequence_feature|LOW|TIMP3|ENSG00000100234|beta_strand|ENST00000266085|protein_coding|1/5|c.122-35T>G||||||,G|sequence_feature|LOW|TIMP3|ENSG00000100234|beta_strand|ENST00000266085|protein_coding|2/5|c.122-35T>G||||||,G|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|5/12|c.711+15498A>C||||||,G|intron_variant|MODIFIER|TIMP3|ENSG00000100234|transcript|ENST00000266085|protein_coding|1/4|c.122-35T>G||||||,G|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|6/13|c.711+15498A>C||||||,G|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000462268|processed_transcript|2/2|n.225+15498A>C|||||| 22 33253186 . G A . . ANN=A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|3/13|c.711+7716C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|10/13|c.711+7716C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|2/13|c.711+7716C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|5/13|c.711+7716C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|6/13|c.711+7716C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|8/13|c.711+7716C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|9/13|c.711+7716C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|1/13|c.711+7716C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|7/13|c.711+7716C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|4/13|c.711+7716C>T||||||,A|sequence_feature|LOW|TIMP3|ENSG00000100234|disulfide_bond|ENST00000266085|protein_coding|1/5|c.205-50G>A||||||,A|sequence_feature|LOW|TIMP3|ENSG00000100234|disulfide_bond|ENST00000266085|protein_coding|2/5|c.205-50G>A||||||,A|sequence_feature|LOW|TIMP3|ENSG00000100234|disulfide_bond|ENST00000266085|protein_coding|3/5|c.205-50G>A||||||,A|sequence_feature|LOW|TIMP3|ENSG00000100234|domain:NTR|ENST00000266085|protein_coding|1/5|c.205-50G>A||||||,A|sequence_feature|LOW|TIMP3|ENSG00000100234|domain:NTR|ENST00000266085|protein_coding|2/5|c.205-50G>A||||||,A|sequence_feature|LOW|TIMP3|ENSG00000100234|domain:NTR|ENST00000266085|protein_coding|3/5|c.205-50G>A||||||,A|sequence_feature|LOW|TIMP3|ENSG00000100234|domain:NTR|ENST00000266085|protein_coding|4/5|c.205-50G>A||||||,A|sequence_feature|LOW|TIMP3|ENSG00000100234|disulfide_bond|ENST00000266085|protein_coding|4/5|c.205-50G>A||||||,A|downstream_gene_variant|MODIFIER|Z98256.1|ENSG00000183531|transcript|ENST00000327661|pseudogene||n.*411C>T|||||2820|,A|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|5/12|c.711+7716C>T||||||,A|intron_variant|MODIFIER|TIMP3|ENSG00000100234|transcript|ENST00000266085|protein_coding|2/4|c.205-50G>A||||||,A|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|6/13|c.711+7716C>T||||||,A|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000462268|processed_transcript|2/2|n.225+7716C>T|||||| 22 33253280 . T C . . ANN=C|synonymous_variant|LOW|TIMP3|ENSG00000100234|transcript|ENST00000266085|protein_coding|3/5|c.249T>C|p.His83His|550/4603|249/636|83/211||,C|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|3/13|c.711+7622A>G||||||,C|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|10/13|c.711+7622A>G||||||,C|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|2/13|c.711+7622A>G||||||,C|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|5/13|c.711+7622A>G||||||,C|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|6/13|c.711+7622A>G||||||,C|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|8/13|c.711+7622A>G||||||,C|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|9/13|c.711+7622A>G||||||,C|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|1/13|c.711+7622A>G||||||,C|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|7/13|c.711+7622A>G||||||,C|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|4/13|c.711+7622A>G||||||,C|sequence_feature|LOW|TIMP3|ENSG00000100234|disulfide_bond|ENST00000266085|protein_coding|1/5|c.249T>C||||||,C|sequence_feature|LOW|TIMP3|ENSG00000100234|disulfide_bond|ENST00000266085|protein_coding|2/5|c.249T>C||||||,C|sequence_feature|LOW|TIMP3|ENSG00000100234|disulfide_bond|ENST00000266085|protein_coding|3/5|c.249T>C||||||,C|sequence_feature|LOW|TIMP3|ENSG00000100234|domain:NTR|ENST00000266085|protein_coding|1/5|c.249T>C||||||,C|sequence_feature|LOW|TIMP3|ENSG00000100234|domain:NTR|ENST00000266085|protein_coding|2/5|c.249T>C||||||,C|sequence_feature|LOW|TIMP3|ENSG00000100234|domain:NTR|ENST00000266085|protein_coding|3/5|c.249T>C||||||,C|sequence_feature|LOW|TIMP3|ENSG00000100234|domain:NTR|ENST00000266085|protein_coding|4/5|c.249T>C||||||,C|sequence_feature|LOW|TIMP3|ENSG00000100234|disulfide_bond|ENST00000266085|protein_coding|4/5|c.249T>C||||||,C|sequence_feature|LOW|TIMP3|ENSG00000100234|beta_strand|ENST00000266085|protein_coding|3/5|c.249T>C||||||,C|downstream_gene_variant|MODIFIER|Z98256.1|ENSG00000183531|transcript|ENST00000327661|pseudogene||n.*411A>G|||||2726|,C|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|5/12|c.711+7622A>G||||||,C|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|6/13|c.711+7622A>G||||||,C|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000462268|processed_transcript|2/2|n.225+7622A>G|||||| 22 33253292 . C T . . ANN=T|synonymous_variant|LOW|TIMP3|ENSG00000100234|transcript|ENST00000266085|protein_coding|3/5|c.261C>T|p.Ser87Ser|562/4603|261/636|87/211||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|3/13|c.711+7610G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|10/13|c.711+7610G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|2/13|c.711+7610G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|5/13|c.711+7610G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|6/13|c.711+7610G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|8/13|c.711+7610G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|9/13|c.711+7610G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|1/13|c.711+7610G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|7/13|c.711+7610G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|4/13|c.711+7610G>A||||||,T|sequence_feature|LOW|TIMP3|ENSG00000100234|disulfide_bond|ENST00000266085|protein_coding|1/5|c.261C>T||||||,T|sequence_feature|LOW|TIMP3|ENSG00000100234|disulfide_bond|ENST00000266085|protein_coding|2/5|c.261C>T||||||,T|sequence_feature|LOW|TIMP3|ENSG00000100234|disulfide_bond|ENST00000266085|protein_coding|3/5|c.261C>T||||||,T|sequence_feature|LOW|TIMP3|ENSG00000100234|domain:NTR|ENST00000266085|protein_coding|1/5|c.261C>T||||||,T|sequence_feature|LOW|TIMP3|ENSG00000100234|domain:NTR|ENST00000266085|protein_coding|2/5|c.261C>T||||||,T|sequence_feature|LOW|TIMP3|ENSG00000100234|domain:NTR|ENST00000266085|protein_coding|3/5|c.261C>T||||||,T|sequence_feature|LOW|TIMP3|ENSG00000100234|domain:NTR|ENST00000266085|protein_coding|4/5|c.261C>T||||||,T|sequence_feature|LOW|TIMP3|ENSG00000100234|disulfide_bond|ENST00000266085|protein_coding|4/5|c.261C>T||||||,T|downstream_gene_variant|MODIFIER|Z98256.1|ENSG00000183531|transcript|ENST00000327661|pseudogene||n.*411G>A|||||2714|,T|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|5/12|c.711+7610G>A||||||,T|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|6/13|c.711+7610G>A||||||,T|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000462268|processed_transcript|2/2|n.225+7610G>A|||||| 22 33253337 . C T . . ANN=T|synonymous_variant|LOW|TIMP3|ENSG00000100234|transcript|ENST00000266085|protein_coding|3/5|c.306C>T|p.Tyr102Tyr|607/4603|306/636|102/211||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|3/13|c.711+7565G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|10/13|c.711+7565G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|2/13|c.711+7565G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|5/13|c.711+7565G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|6/13|c.711+7565G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|8/13|c.711+7565G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|9/13|c.711+7565G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|1/13|c.711+7565G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|7/13|c.711+7565G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|4/13|c.711+7565G>A||||||,T|sequence_feature|LOW|TIMP3|ENSG00000100234|domain:NTR|ENST00000266085|protein_coding|1/5|c.306C>T||||||,T|sequence_feature|LOW|TIMP3|ENSG00000100234|domain:NTR|ENST00000266085|protein_coding|2/5|c.306C>T||||||,T|sequence_feature|LOW|TIMP3|ENSG00000100234|domain:NTR|ENST00000266085|protein_coding|3/5|c.306C>T||||||,T|sequence_feature|LOW|TIMP3|ENSG00000100234|domain:NTR|ENST00000266085|protein_coding|4/5|c.306C>T||||||,T|sequence_feature|LOW|TIMP3|ENSG00000100234|disulfide_bond|ENST00000266085|protein_coding|1/5|c.306C>T||||||,T|sequence_feature|LOW|TIMP3|ENSG00000100234|disulfide_bond|ENST00000266085|protein_coding|2/5|c.306C>T||||||,T|sequence_feature|LOW|TIMP3|ENSG00000100234|disulfide_bond|ENST00000266085|protein_coding|3/5|c.306C>T||||||,T|sequence_feature|LOW|TIMP3|ENSG00000100234|disulfide_bond|ENST00000266085|protein_coding|4/5|c.306C>T||||||,T|sequence_feature|LOW|TIMP3|ENSG00000100234|beta_strand|ENST00000266085|protein_coding|3/5|c.306C>T||||||,T|sequence_feature|LOW|TIMP3|ENSG00000100234|beta_strand|ENST00000266085|protein_coding|4/5|c.306C>T||||||,T|downstream_gene_variant|MODIFIER|Z98256.1|ENSG00000183531|transcript|ENST00000327661|pseudogene||n.*411G>A|||||2669|,T|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|5/12|c.711+7565G>A||||||,T|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|6/13|c.711+7565G>A||||||,T|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000462268|processed_transcript|2/2|n.225+7565G>A|||||| 22 33253986 . T C . . ANN=C|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|3/13|c.711+6916A>G||||||,C|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|10/13|c.711+6916A>G||||||,C|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|2/13|c.711+6916A>G||||||,C|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|5/13|c.711+6916A>G||||||,C|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|6/13|c.711+6916A>G||||||,C|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|8/13|c.711+6916A>G||||||,C|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|9/13|c.711+6916A>G||||||,C|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|1/13|c.711+6916A>G||||||,C|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|7/13|c.711+6916A>G||||||,C|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|4/13|c.711+6916A>G||||||,C|sequence_feature|LOW|TIMP3|ENSG00000100234|domain:NTR|ENST00000266085|protein_coding|1/5|c.317-18T>C||||||,C|sequence_feature|LOW|TIMP3|ENSG00000100234|domain:NTR|ENST00000266085|protein_coding|2/5|c.317-18T>C||||||,C|sequence_feature|LOW|TIMP3|ENSG00000100234|domain:NTR|ENST00000266085|protein_coding|3/5|c.317-18T>C||||||,C|sequence_feature|LOW|TIMP3|ENSG00000100234|domain:NTR|ENST00000266085|protein_coding|4/5|c.317-18T>C||||||,C|sequence_feature|LOW|TIMP3|ENSG00000100234|disulfide_bond|ENST00000266085|protein_coding|1/5|c.317-18T>C||||||,C|sequence_feature|LOW|TIMP3|ENSG00000100234|disulfide_bond|ENST00000266085|protein_coding|2/5|c.317-18T>C||||||,C|sequence_feature|LOW|TIMP3|ENSG00000100234|disulfide_bond|ENST00000266085|protein_coding|3/5|c.317-18T>C||||||,C|sequence_feature|LOW|TIMP3|ENSG00000100234|disulfide_bond|ENST00000266085|protein_coding|4/5|c.317-18T>C||||||,C|sequence_feature|LOW|TIMP3|ENSG00000100234|beta_strand|ENST00000266085|protein_coding|3/5|c.317-18T>C||||||,C|sequence_feature|LOW|TIMP3|ENSG00000100234|beta_strand|ENST00000266085|protein_coding|4/5|c.317-18T>C||||||,C|sequence_feature|LOW|TIMP3|ENSG00000100234|region_of_interest:Mediates_interaction_with_EFEMP1|ENST00000266085|protein_coding|5/5|c.317-18T>C||||||,C|sequence_feature|LOW|TIMP3|ENSG00000100234|region_of_interest:Mediates_interaction_with_EFEMP1|ENST00000266085|protein_coding|3/5|c.317-18T>C||||||,C|sequence_feature|LOW|TIMP3|ENSG00000100234|region_of_interest:Mediates_interaction_with_EFEMP1|ENST00000266085|protein_coding|4/5|c.317-18T>C||||||,C|downstream_gene_variant|MODIFIER|Z98256.1|ENSG00000183531|transcript|ENST00000327661|pseudogene||n.*411A>G|||||2020|,C|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|5/12|c.711+6916A>G||||||,C|intron_variant|MODIFIER|TIMP3|ENSG00000100234|transcript|ENST00000266085|protein_coding|3/4|c.317-18T>C||||||,C|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|6/13|c.711+6916A>G||||||,C|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000462268|processed_transcript|2/2|n.225+6916A>G|||||| 22 33254048 . G A . . ANN=A|missense_variant|MODERATE|TIMP3|ENSG00000100234|transcript|ENST00000266085|protein_coding|4/5|c.361G>A|p.Val121Met|662/4603|361/636|121/211||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|3/13|c.711+6854C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|10/13|c.711+6854C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|2/13|c.711+6854C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|5/13|c.711+6854C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|6/13|c.711+6854C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|8/13|c.711+6854C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|9/13|c.711+6854C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|1/13|c.711+6854C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|7/13|c.711+6854C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|4/13|c.711+6854C>T||||||,A|sequence_feature|LOW|TIMP3|ENSG00000100234|domain:NTR|ENST00000266085|protein_coding|1/5|c.361G>A||||||,A|sequence_feature|LOW|TIMP3|ENSG00000100234|domain:NTR|ENST00000266085|protein_coding|2/5|c.361G>A||||||,A|sequence_feature|LOW|TIMP3|ENSG00000100234|domain:NTR|ENST00000266085|protein_coding|3/5|c.361G>A||||||,A|sequence_feature|LOW|TIMP3|ENSG00000100234|domain:NTR|ENST00000266085|protein_coding|4/5|c.361G>A||||||,A|sequence_feature|LOW|TIMP3|ENSG00000100234|disulfide_bond|ENST00000266085|protein_coding|1/5|c.361G>A||||||,A|sequence_feature|LOW|TIMP3|ENSG00000100234|disulfide_bond|ENST00000266085|protein_coding|2/5|c.361G>A||||||,A|sequence_feature|LOW|TIMP3|ENSG00000100234|disulfide_bond|ENST00000266085|protein_coding|3/5|c.361G>A||||||,A|sequence_feature|LOW|TIMP3|ENSG00000100234|disulfide_bond|ENST00000266085|protein_coding|4/5|c.361G>A||||||,A|sequence_feature|LOW|TIMP3|ENSG00000100234|region_of_interest:Mediates_interaction_with_EFEMP1|ENST00000266085|protein_coding|5/5|c.361G>A||||||,A|sequence_feature|LOW|TIMP3|ENSG00000100234|region_of_interest:Mediates_interaction_with_EFEMP1|ENST00000266085|protein_coding|3/5|c.361G>A||||||,A|sequence_feature|LOW|TIMP3|ENSG00000100234|region_of_interest:Mediates_interaction_with_EFEMP1|ENST00000266085|protein_coding|4/5|c.361G>A||||||,A|downstream_gene_variant|MODIFIER|Z98256.1|ENSG00000183531|transcript|ENST00000327661|pseudogene||n.*411C>T|||||1958|,A|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|5/12|c.711+6854C>T||||||,A|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|6/13|c.711+6854C>T||||||,A|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000462268|processed_transcript|2/2|n.225+6854C>T|||||| 22 33254112 . G A . . ANN=A|missense_variant|MODERATE|TIMP3|ENSG00000100234|transcript|ENST00000266085|protein_coding|4/5|c.425G>A|p.Gly142Asp|726/4603|425/636|142/211||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|3/13|c.711+6790C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|10/13|c.711+6790C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|2/13|c.711+6790C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|5/13|c.711+6790C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|6/13|c.711+6790C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|8/13|c.711+6790C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|9/13|c.711+6790C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|1/13|c.711+6790C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|7/13|c.711+6790C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|4/13|c.711+6790C>T||||||,A|sequence_feature|LOW|TIMP3|ENSG00000100234|domain:NTR|ENST00000266085|protein_coding|1/5|c.425G>A||||||,A|sequence_feature|LOW|TIMP3|ENSG00000100234|domain:NTR|ENST00000266085|protein_coding|2/5|c.425G>A||||||,A|sequence_feature|LOW|TIMP3|ENSG00000100234|domain:NTR|ENST00000266085|protein_coding|3/5|c.425G>A||||||,A|sequence_feature|LOW|TIMP3|ENSG00000100234|domain:NTR|ENST00000266085|protein_coding|4/5|c.425G>A||||||,A|sequence_feature|LOW|TIMP3|ENSG00000100234|disulfide_bond|ENST00000266085|protein_coding|1/5|c.425G>A||||||,A|sequence_feature|LOW|TIMP3|ENSG00000100234|disulfide_bond|ENST00000266085|protein_coding|2/5|c.425G>A||||||,A|sequence_feature|LOW|TIMP3|ENSG00000100234|disulfide_bond|ENST00000266085|protein_coding|3/5|c.425G>A||||||,A|sequence_feature|LOW|TIMP3|ENSG00000100234|disulfide_bond|ENST00000266085|protein_coding|4/5|c.425G>A||||||,A|sequence_feature|LOW|TIMP3|ENSG00000100234|region_of_interest:Mediates_interaction_with_EFEMP1|ENST00000266085|protein_coding|5/5|c.425G>A||||||,A|sequence_feature|LOW|TIMP3|ENSG00000100234|region_of_interest:Mediates_interaction_with_EFEMP1|ENST00000266085|protein_coding|3/5|c.425G>A||||||,A|sequence_feature|LOW|TIMP3|ENSG00000100234|region_of_interest:Mediates_interaction_with_EFEMP1|ENST00000266085|protein_coding|4/5|c.425G>A||||||,A|downstream_gene_variant|MODIFIER|Z98256.1|ENSG00000183531|transcript|ENST00000327661|pseudogene||n.*411C>T|||||1894|,A|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|5/12|c.711+6790C>T||||||,A|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|6/13|c.711+6790C>T||||||,A|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000462268|processed_transcript|2/2|n.225+6790C>T|||||| 22 33255124 . C A . . ANN=A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|3/13|c.711+5778G>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|10/13|c.711+5778G>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|2/13|c.711+5778G>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|5/13|c.711+5778G>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|6/13|c.711+5778G>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|8/13|c.711+5778G>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|9/13|c.711+5778G>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|1/13|c.711+5778G>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|7/13|c.711+5778G>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|4/13|c.711+5778G>T||||||,A|sequence_feature|LOW|TIMP3|ENSG00000100234|region_of_interest:Mediates_interaction_with_EFEMP1|ENST00000266085|protein_coding|5/5|c.439-43C>A||||||,A|sequence_feature|LOW|TIMP3|ENSG00000100234|region_of_interest:Mediates_interaction_with_EFEMP1|ENST00000266085|protein_coding|3/5|c.439-43C>A||||||,A|sequence_feature|LOW|TIMP3|ENSG00000100234|region_of_interest:Mediates_interaction_with_EFEMP1|ENST00000266085|protein_coding|4/5|c.439-43C>A||||||,A|sequence_feature|LOW|TIMP3|ENSG00000100234|disulfide_bond|ENST00000266085|protein_coding|5/5|c.439-43C>A||||||,A|sequence_feature|LOW|TIMP3|ENSG00000100234|disulfide_bond|ENST00000266085|protein_coding|4/5|c.439-43C>A||||||,A|downstream_gene_variant|MODIFIER|Z98256.1|ENSG00000183531|transcript|ENST00000327661|pseudogene||n.*411G>T|||||882|,A|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|5/12|c.711+5778G>T||||||,A|intron_variant|MODIFIER|TIMP3|ENSG00000100234|transcript|ENST00000266085|protein_coding|4/4|c.439-43C>A||||||,A|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|6/13|c.711+5778G>T||||||,A|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000462268|processed_transcript|2/2|n.225+5778G>T|||||| 22 33255244 . C T . . ANN=T|synonymous_variant|LOW|TIMP3|ENSG00000100234|transcript|ENST00000266085|protein_coding|5/5|c.516C>T|p.Phe172Phe|817/4603|516/636|172/211||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|3/13|c.711+5658G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|10/13|c.711+5658G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|2/13|c.711+5658G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|5/13|c.711+5658G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|6/13|c.711+5658G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|8/13|c.711+5658G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|9/13|c.711+5658G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|1/13|c.711+5658G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|7/13|c.711+5658G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|4/13|c.711+5658G>A||||||,T|sequence_feature|LOW|TIMP3|ENSG00000100234|region_of_interest:Mediates_interaction_with_EFEMP1|ENST00000266085|protein_coding|5/5|c.516C>T||||||,T|sequence_feature|LOW|TIMP3|ENSG00000100234|region_of_interest:Mediates_interaction_with_EFEMP1|ENST00000266085|protein_coding|3/5|c.516C>T||||||,T|sequence_feature|LOW|TIMP3|ENSG00000100234|region_of_interest:Mediates_interaction_with_EFEMP1|ENST00000266085|protein_coding|4/5|c.516C>T||||||,T|sequence_feature|LOW|TIMP3|ENSG00000100234|disulfide_bond|ENST00000266085|protein_coding|5/5|c.516C>T||||||,T|sequence_feature|LOW|TIMP3|ENSG00000100234|disulfide_bond|ENST00000266085|protein_coding|4/5|c.516C>T||||||,T|downstream_gene_variant|MODIFIER|Z98256.1|ENSG00000183531|transcript|ENST00000327661|pseudogene||n.*411G>A|||||762|,T|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|5/12|c.711+5658G>A||||||,T|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|6/13|c.711+5658G>A||||||,T|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000462268|processed_transcript|2/2|n.225+5658G>A|||||| 22 33255274 . C T . . ANN=T|synonymous_variant|LOW|TIMP3|ENSG00000100234|transcript|ENST00000266085|protein_coding|5/5|c.546C>T|p.Tyr182Tyr|847/4603|546/636|182/211||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|3/13|c.711+5628G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|10/13|c.711+5628G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|2/13|c.711+5628G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|5/13|c.711+5628G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|6/13|c.711+5628G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|8/13|c.711+5628G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|9/13|c.711+5628G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|1/13|c.711+5628G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|7/13|c.711+5628G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|4/13|c.711+5628G>A||||||,T|sequence_feature|LOW|TIMP3|ENSG00000100234|region_of_interest:Mediates_interaction_with_EFEMP1|ENST00000266085|protein_coding|5/5|c.546C>T||||||,T|sequence_feature|LOW|TIMP3|ENSG00000100234|region_of_interest:Mediates_interaction_with_EFEMP1|ENST00000266085|protein_coding|3/5|c.546C>T||||||,T|sequence_feature|LOW|TIMP3|ENSG00000100234|region_of_interest:Mediates_interaction_with_EFEMP1|ENST00000266085|protein_coding|4/5|c.546C>T||||||,T|sequence_feature|LOW|TIMP3|ENSG00000100234|disulfide_bond|ENST00000266085|protein_coding|5/5|c.546C>T||||||,T|sequence_feature|LOW|TIMP3|ENSG00000100234|disulfide_bond|ENST00000266085|protein_coding|4/5|c.546C>T||||||,T|downstream_gene_variant|MODIFIER|Z98256.1|ENSG00000183531|transcript|ENST00000327661|pseudogene||n.*411G>A|||||732|,T|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|5/12|c.711+5628G>A||||||,T|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|6/13|c.711+5628G>A||||||,T|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000462268|processed_transcript|2/2|n.225+5628G>A|||||| 22 33255284 . C T . . ANN=T|missense_variant|MODERATE|TIMP3|ENSG00000100234|transcript|ENST00000266085|protein_coding|5/5|c.556C>T|p.Arg186Trp|857/4603|556/636|186/211||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|3/13|c.711+5618G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|10/13|c.711+5618G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|2/13|c.711+5618G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|5/13|c.711+5618G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|6/13|c.711+5618G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|8/13|c.711+5618G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|9/13|c.711+5618G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|1/13|c.711+5618G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|7/13|c.711+5618G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|4/13|c.711+5618G>A||||||,T|sequence_feature|LOW|TIMP3|ENSG00000100234|region_of_interest:Mediates_interaction_with_EFEMP1|ENST00000266085|protein_coding|5/5|c.556C>T||||||,T|sequence_feature|LOW|TIMP3|ENSG00000100234|region_of_interest:Mediates_interaction_with_EFEMP1|ENST00000266085|protein_coding|3/5|c.556C>T||||||,T|sequence_feature|LOW|TIMP3|ENSG00000100234|region_of_interest:Mediates_interaction_with_EFEMP1|ENST00000266085|protein_coding|4/5|c.556C>T||||||,T|sequence_feature|LOW|TIMP3|ENSG00000100234|disulfide_bond|ENST00000266085|protein_coding|5/5|c.556C>T||||||,T|sequence_feature|LOW|TIMP3|ENSG00000100234|disulfide_bond|ENST00000266085|protein_coding|4/5|c.556C>T||||||,T|downstream_gene_variant|MODIFIER|Z98256.1|ENSG00000183531|transcript|ENST00000327661|pseudogene||n.*411G>A|||||722|,T|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|5/12|c.711+5618G>A||||||,T|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|6/13|c.711+5618G>A||||||,T|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000462268|processed_transcript|2/2|n.225+5618G>A|||||| 22 33255315 . G A . . ANN=A|missense_variant|MODERATE|TIMP3|ENSG00000100234|transcript|ENST00000266085|protein_coding|5/5|c.587G>A|p.Arg196Gln|888/4603|587/636|196/211||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|3/13|c.711+5587C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|10/13|c.711+5587C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|2/13|c.711+5587C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|5/13|c.711+5587C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|6/13|c.711+5587C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|8/13|c.711+5587C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|9/13|c.711+5587C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|1/13|c.711+5587C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|7/13|c.711+5587C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|4/13|c.711+5587C>T||||||,A|downstream_gene_variant|MODIFIER|Z98256.1|ENSG00000183531|transcript|ENST00000327661|pseudogene||n.*411C>T|||||691|,A|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|5/12|c.711+5587C>T||||||,A|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|6/13|c.711+5587C>T||||||,A|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000462268|processed_transcript|2/2|n.225+5587C>T|||||| 22 33255403 . G A . . ANN=A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|3/13|c.711+5499C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|10/13|c.711+5499C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|2/13|c.711+5499C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|5/13|c.711+5499C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|6/13|c.711+5499C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|8/13|c.711+5499C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|9/13|c.711+5499C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|1/13|c.711+5499C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|7/13|c.711+5499C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|4/13|c.711+5499C>T||||||,A|3_prime_UTR_variant|MODIFIER|TIMP3|ENSG00000100234|transcript|ENST00000266085|protein_coding|5/5|c.*39G>A|||||39|,A|downstream_gene_variant|MODIFIER|Z98256.1|ENSG00000183531|transcript|ENST00000327661|pseudogene||n.*411C>T|||||603|,A|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|5/12|c.711+5499C>T||||||,A|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|6/13|c.711+5499C>T||||||,A|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000462268|processed_transcript|2/2|n.225+5499C>T|||||| 22 33260866 . A G . . ANN=G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|3/13|c.711+36T>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|10/13|c.711+36T>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|2/13|c.711+36T>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|5/13|c.711+36T>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|6/13|c.711+36T>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|8/13|c.711+36T>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|9/13|c.711+36T>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|1/13|c.711+36T>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|7/13|c.711+36T>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|4/13|c.711+36T>C||||||,G|upstream_gene_variant|MODIFIER|Z98256.1|ENSG00000183531|transcript|ENST00000327661|pseudogene||n.-1T>C|||||4446|,G|downstream_gene_variant|MODIFIER|TIMP3|ENSG00000100234|transcript|ENST00000266085|protein_coding||c.*937A>G|||||1836|,G|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|5/12|c.711+36T>C||||||,G|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|6/13|c.711+36T>C||||||,G|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000462268|processed_transcript|2/2|n.225+36T>C||||||,G|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000467824|retained_intron|2/2|n.219T>C|||||| 22 33260886 . A G . . ANN=G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|3/13|c.711+16T>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|10/13|c.711+16T>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|2/13|c.711+16T>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|5/13|c.711+16T>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|6/13|c.711+16T>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|8/13|c.711+16T>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|9/13|c.711+16T>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|1/13|c.711+16T>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|7/13|c.711+16T>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|4/13|c.711+16T>C||||||,G|upstream_gene_variant|MODIFIER|Z98256.1|ENSG00000183531|transcript|ENST00000327661|pseudogene||n.-1T>C|||||4466|,G|downstream_gene_variant|MODIFIER|TIMP3|ENSG00000100234|transcript|ENST00000266085|protein_coding||c.*937A>G|||||1856|,G|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|5/12|c.711+16T>C||||||,G|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|6/13|c.711+16T>C||||||,G|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000462268|processed_transcript|2/2|n.225+16T>C||||||,G|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000467824|retained_intron|2/2|n.199T>C|||||| 22 33264982 . C T . . ANN=T|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|4/13|c.592G>A|p.Val198Ile|751/3039|592/1743|198/580||,T|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|5/14|c.592G>A|p.Val198Ile|835/3126|592/1743|198/580||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|3/13|c.592G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|10/13|c.592G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|2/13|c.592G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|5/13|c.592G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|6/13|c.592G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|8/13|c.592G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|9/13|c.592G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|1/13|c.592G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|7/13|c.592G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|4/13|c.592G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|helix|ENST00000332840|protein_coding|4/13|c.592G>A||||||,T|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000462268|processed_transcript|1/3|n.106G>A||||||,T|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000467824|retained_intron|1/2|n.64G>A|||||| 22 33327345 . GA G . . ANN=|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|3/13|c.461+29delT||||||,|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|10/13|c.461+29delT||||||,|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|2/13|c.461+29delT||||||,|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|5/13|c.461+29delT||||||,|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|6/13|c.461+29delT||||||,|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|8/13|c.461+29delT||||||,|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|9/13|c.461+29delT||||||,|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|1/13|c.461+29delT||||||,|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|7/13|c.461+29delT||||||,|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|4/13|c.461+29delT||||||,|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|3/12|c.461+29delT||||||,|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|4/13|c.461+29delT||||||,|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000472027|retained_intron|2/2|n.229delT|||||| 22 33327354 . G A . . ANN=A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|3/13|c.461+21C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|10/13|c.461+21C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|2/13|c.461+21C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|5/13|c.461+21C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|6/13|c.461+21C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|8/13|c.461+21C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|9/13|c.461+21C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|1/13|c.461+21C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|7/13|c.461+21C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|4/13|c.461+21C>T||||||,A|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|3/12|c.461+21C>T||||||,A|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|4/13|c.461+21C>T||||||,A|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000472027|retained_intron|2/2|n.221C>T|||||| 22 33327390 . C T . . ANN=T|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|3/13|c.446G>A|p.Gly149Glu|605/3039|446/1743|149/580||,T|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|4/14|c.446G>A|p.Gly149Glu|689/3126|446/1743|149/580||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|3/13|c.446G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|10/13|c.446G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|2/13|c.446G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|5/13|c.446G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|6/13|c.446G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|8/13|c.446G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|9/13|c.446G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|1/13|c.446G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|7/13|c.446G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|4/13|c.446G>A||||||,T|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000472027|retained_intron|2/2|n.185G>A|||||| 22 33327428 . G A . . ANN=A|synonymous_variant|LOW|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|3/13|c.408C>T|p.Thr136Thr|567/3039|408/1743|136/580||,A|synonymous_variant|LOW|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|4/14|c.408C>T|p.Thr136Thr|651/3126|408/1743|136/580||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|3/13|c.408C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|10/13|c.408C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|2/13|c.408C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|5/13|c.408C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|6/13|c.408C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|8/13|c.408C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|9/13|c.408C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|1/13|c.408C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|7/13|c.408C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|4/13|c.408C>T||||||,A|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000472027|retained_intron|2/2|n.147C>T|||||| 22 33327478 . A G . . ANN=G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|3/13|c.370-12T>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|10/13|c.370-12T>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|2/13|c.370-12T>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|5/13|c.370-12T>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|6/13|c.370-12T>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|8/13|c.370-12T>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|9/13|c.370-12T>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|1/13|c.370-12T>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|7/13|c.370-12T>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|4/13|c.370-12T>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|beta_strand|ENST00000332840|protein_coding|3/13|c.370-12T>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|beta_strand|ENST00000332840|protein_coding|2/13|c.370-12T>C||||||,G|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|2/12|c.370-12T>C||||||,G|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|3/13|c.370-12T>C||||||,G|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000472027|retained_intron|1/1|n.109-12T>C|||||| 22 33376632 . G T . . ANN=T|missense_variant&splice_region_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|2/13|c.367C>A|p.Gln123Lys|526/3039|367/1743|123/580||,T|missense_variant&splice_region_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|3/14|c.367C>A|p.Gln123Lys|610/3126|367/1743|123/580||,T|missense_variant&splice_region_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000441821|protein_coding|3/3|c.367C>A|p.Gln123Lys|853/855|367/369|123/122||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|3/13|c.367C>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|10/13|c.367C>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|2/13|c.367C>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|5/13|c.367C>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|6/13|c.367C>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|8/13|c.367C>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|9/13|c.367C>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|1/13|c.367C>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|7/13|c.367C>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|4/13|c.367C>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|beta_strand|ENST00000332840|protein_coding|3/13|c.367C>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|beta_strand|ENST00000332840|protein_coding|2/13|c.367C>A||||||,T|downstream_gene_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000412575|protein_coding||c.*632C>A|||||26|WARNING_TRANSCRIPT_INCOMPLETE 22 33376709 . C T . . ANN=T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|3/13|c.312-22G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|10/13|c.312-22G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|2/13|c.312-22G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|5/13|c.312-22G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|6/13|c.312-22G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|8/13|c.312-22G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|9/13|c.312-22G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|1/13|c.312-22G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|7/13|c.312-22G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|4/13|c.312-22G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|helix|ENST00000332840|protein_coding|2/13|c.312-22G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|helix|ENST00000332840|protein_coding|1/13|c.312-22G>A||||||,T|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|1/12|c.312-22G>A||||||,T|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|2/13|c.312-22G>A||||||,T|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000441821|protein_coding|2/2|c.312-22G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000412575|protein_coding|2/2|c.312-22G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 33376726 . C A . . ANN=A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|3/13|c.312-39G>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|10/13|c.312-39G>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|2/13|c.312-39G>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|5/13|c.312-39G>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|6/13|c.312-39G>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|8/13|c.312-39G>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|9/13|c.312-39G>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|1/13|c.312-39G>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|7/13|c.312-39G>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|4/13|c.312-39G>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|helix|ENST00000332840|protein_coding|2/13|c.312-39G>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|helix|ENST00000332840|protein_coding|1/13|c.312-39G>T||||||,A|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|1/12|c.312-39G>T||||||,A|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|2/13|c.312-39G>T||||||,A|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000441821|protein_coding|2/2|c.312-39G>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000412575|protein_coding|2/2|c.312-39G>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 33402292 . C T . . ANN=T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|3/13|c.311+45G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|10/13|c.311+45G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|2/13|c.311+45G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|5/13|c.311+45G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|6/13|c.311+45G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|8/13|c.311+45G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|9/13|c.311+45G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|1/13|c.311+45G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|7/13|c.311+45G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|4/13|c.311+45G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|helix|ENST00000332840|protein_coding|2/13|c.311+45G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|helix|ENST00000332840|protein_coding|1/13|c.311+45G>A||||||,T|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|1/12|c.311+45G>A||||||,T|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|2/13|c.311+45G>A||||||,T|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000441821|protein_coding|2/2|c.311+45G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000412575|protein_coding|2/2|c.311+45G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 33402504 . C A . . ANN=A|synonymous_variant|LOW|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|1/13|c.144G>T|p.Leu48Leu|303/3039|144/1743|48/580||,A|synonymous_variant|LOW|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|2/14|c.144G>T|p.Leu48Leu|387/3126|144/1743|48/580||,A|synonymous_variant|LOW|SYN3|ENSG00000185666|transcript|ENST00000441821|protein_coding|2/3|c.144G>T|p.Leu48Leu|630/855|144/369|48/122||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|SYN3|ENSG00000185666|transcript|ENST00000412575|protein_coding|2/3|c.144G>T|p.Leu48Leu|435/632|144/341|48/112||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:B|ENST00000332840|protein_coding|1/13|c.144G>T|||||| 22 33402516 . G A . . ANN=A|synonymous_variant|LOW|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|1/13|c.132C>T|p.His44His|291/3039|132/1743|44/580||,A|synonymous_variant|LOW|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|2/14|c.132C>T|p.His44His|375/3126|132/1743|44/580||,A|synonymous_variant|LOW|SYN3|ENSG00000185666|transcript|ENST00000441821|protein_coding|2/3|c.132C>T|p.His44His|618/855|132/369|44/122||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|SYN3|ENSG00000185666|transcript|ENST00000412575|protein_coding|2/3|c.132C>T|p.His44His|423/632|132/341|44/112||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:B|ENST00000332840|protein_coding|1/13|c.132C>T|||||| 22 33402579 . C T . . ANN=T|synonymous_variant|LOW|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|1/13|c.69G>A|p.Thr23Thr|228/3039|69/1743|23/580||,T|synonymous_variant|LOW|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|2/14|c.69G>A|p.Thr23Thr|312/3126|69/1743|23/580||,T|synonymous_variant|LOW|SYN3|ENSG00000185666|transcript|ENST00000441821|protein_coding|2/3|c.69G>A|p.Thr23Thr|555/855|69/369|23/122||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|SYN3|ENSG00000185666|transcript|ENST00000412575|protein_coding|2/3|c.69G>A|p.Thr23Thr|360/632|69/341|23/112||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:A|ENST00000332840|protein_coding|1/13|c.69G>A|||||| 22 33402580 . G A . . ANN=A|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|1/13|c.68C>T|p.Thr23Met|227/3039|68/1743|23/580||,A|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|2/14|c.68C>T|p.Thr23Met|311/3126|68/1743|23/580||,A|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000441821|protein_coding|2/3|c.68C>T|p.Thr23Met|554/855|68/369|23/122||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000412575|protein_coding|2/3|c.68C>T|p.Thr23Met|359/632|68/341|23/112||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:A|ENST00000332840|protein_coding|1/13|c.68C>T|||||| 22 33402604 . G A . . ANN=A|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|1/13|c.44C>T|p.Ala15Val|203/3039|44/1743|15/580||,A|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|2/14|c.44C>T|p.Ala15Val|287/3126|44/1743|15/580||,A|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000441821|protein_coding|2/3|c.44C>T|p.Ala15Val|530/855|44/369|15/122||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000412575|protein_coding|2/3|c.44C>T|p.Ala15Val|335/632|44/341|15/112||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:A|ENST00000332840|protein_coding|1/13|c.44C>T|||||| 22 33670584 . G A . . ANN=A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|16/16|c.2100C>T|p.Asn700Asn|2672/4409|2100/2271|700/756||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|15/15|c.1944C>T|p.Asn648Asn|2433/4170|1944/2115|648/704||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|15/15|c.2100C>T|p.Asn700Asn|2616/4138|2100/2271|700/756||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|14/14|c.1944C>T|p.Asn648Asn|2446/3955|1944/2115|648/704||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000452586|protein_coding|11/11|c.1497C>T|p.Asn499Asn|1594/2008|1497/1668|499/555||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|14/14|c.1953C>T|p.Asn651Asn|2155/2533|1953/2124|651/707||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.2100C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.2100C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.2100C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.2100C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.2100C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.2100C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.2100C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.2100C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.2100C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.2100C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.2100C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.2100C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.2100C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.2100C>T||||||,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000608642|protein_coding|5/5|c.761+29631C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000610186|protein_coding|6/6|c.908+8604C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000609799|protein_coding|4/4|c.482+41487C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 33673010 . G A . . ANN=A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.2073+36C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.2073+36C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.2073+36C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.2073+36C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.2073+36C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.2073+36C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.2073+36C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.2073+36C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.2073+36C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.2073+36C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.2073+36C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.2073+36C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.2073+36C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.2073+36C>T||||||,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|15/15|c.2073+36C>T||||||,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000608642|protein_coding|5/5|c.761+27205C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000610186|protein_coding|6/6|c.908+6178C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000609799|protein_coding|4/4|c.482+39061C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|14/14|c.1917+36C>T||||||,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|14/14|c.2073+36C>T||||||,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|13/13|c.1917+36C>T||||||,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000452586|protein_coding|10/10|c.1470+36C>T||||||,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|13/13|c.1926+36C>T|||||| 22 33673104 . C T . . ANN=T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|15/16|c.2015G>A|p.Arg672Gln|2587/4409|2015/2271|672/756||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|14/15|c.1859G>A|p.Arg620Gln|2348/4170|1859/2115|620/704||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|14/15|c.2015G>A|p.Arg672Gln|2531/4138|2015/2271|672/756||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|13/14|c.1859G>A|p.Arg620Gln|2361/3955|1859/2115|620/704||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000452586|protein_coding|10/11|c.1412G>A|p.Arg471Gln|1509/2008|1412/1668|471/555||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|13/14|c.1868G>A|p.Arg623Gln|2070/2533|1868/2124|623/707||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.2015G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.2015G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.2015G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.2015G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.2015G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.2015G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.2015G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.2015G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.2015G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.2015G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.2015G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.2015G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.2015G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.2015G>A||||||,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000608642|protein_coding|5/5|c.761+27111G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000610186|protein_coding|6/6|c.908+6084G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000609799|protein_coding|4/4|c.482+38967G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 33673118 . G A . . ANN=A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|15/16|c.2001C>T|p.Cys667Cys|2573/4409|2001/2271|667/756||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|14/15|c.1845C>T|p.Cys615Cys|2334/4170|1845/2115|615/704||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|14/15|c.2001C>T|p.Cys667Cys|2517/4138|2001/2271|667/756||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|13/14|c.1845C>T|p.Cys615Cys|2347/3955|1845/2115|615/704||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000452586|protein_coding|10/11|c.1398C>T|p.Cys466Cys|1495/2008|1398/1668|466/555||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|13/14|c.1854C>T|p.Cys618Cys|2056/2533|1854/2124|618/707||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.2001C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.2001C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.2001C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.2001C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.2001C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.2001C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.2001C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.2001C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.2001C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.2001C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.2001C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.2001C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.2001C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.2001C>T||||||,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000608642|protein_coding|5/5|c.761+27097C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000610186|protein_coding|6/6|c.908+6070C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000609799|protein_coding|4/4|c.482+38953C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 33673125 . C T . . ANN=T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|15/16|c.1994G>A|p.Arg665His|2566/4409|1994/2271|665/756||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|14/15|c.1838G>A|p.Arg613His|2327/4170|1838/2115|613/704||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|14/15|c.1994G>A|p.Arg665His|2510/4138|1994/2271|665/756||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|13/14|c.1838G>A|p.Arg613His|2340/3955|1838/2115|613/704||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000452586|protein_coding|10/11|c.1391G>A|p.Arg464His|1488/2008|1391/1668|464/555||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|13/14|c.1847G>A|p.Arg616His|2049/2533|1847/2124|616/707||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.1994G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.1994G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.1994G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.1994G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.1994G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.1994G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.1994G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.1994G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.1994G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.1994G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.1994G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.1994G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.1994G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.1994G>A||||||,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000608642|protein_coding|5/5|c.761+27090G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000610186|protein_coding|6/6|c.908+6063G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000609799|protein_coding|4/4|c.482+38946G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 33673170 . C T . . ANN=T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|15/16|c.1949G>A|p.Arg650Gln|2521/4409|1949/2271|650/756||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|14/15|c.1793G>A|p.Arg598Gln|2282/4170|1793/2115|598/704||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|14/15|c.1949G>A|p.Arg650Gln|2465/4138|1949/2271|650/756||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|13/14|c.1793G>A|p.Arg598Gln|2295/3955|1793/2115|598/704||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000452586|protein_coding|10/11|c.1346G>A|p.Arg449Gln|1443/2008|1346/1668|449/555||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|13/14|c.1802G>A|p.Arg601Gln|2004/2533|1802/2124|601/707||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.1949G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.1949G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.1949G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.1949G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.1949G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.1949G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.1949G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.1949G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.1949G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.1949G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.1949G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.1949G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.1949G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.1949G>A||||||,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000608642|protein_coding|5/5|c.761+27045G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000610186|protein_coding|6/6|c.908+6018G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000609799|protein_coding|4/4|c.482+38901G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 33673191 . C T . . ANN=T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|15/16|c.1928G>A|p.Arg643Gln|2500/4409|1928/2271|643/756||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|14/15|c.1772G>A|p.Arg591Gln|2261/4170|1772/2115|591/704||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|14/15|c.1928G>A|p.Arg643Gln|2444/4138|1928/2271|643/756||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|13/14|c.1772G>A|p.Arg591Gln|2274/3955|1772/2115|591/704||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000452586|protein_coding|10/11|c.1325G>A|p.Arg442Gln|1422/2008|1325/1668|442/555||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|13/14|c.1781G>A|p.Arg594Gln|1983/2533|1781/2124|594/707||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.1928G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.1928G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.1928G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.1928G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.1928G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.1928G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.1928G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.1928G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.1928G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.1928G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.1928G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.1928G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.1928G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.1928G>A||||||,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000608642|protein_coding|5/5|c.761+27024G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000610186|protein_coding|6/6|c.908+5997G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000609799|protein_coding|4/4|c.482+38880G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 33673252 . C A . . ANN=A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.1878-11G>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.1878-11G>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.1878-11G>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.1878-11G>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.1878-11G>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.1878-11G>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.1878-11G>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.1878-11G>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.1878-11G>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.1878-11G>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.1878-11G>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.1878-11G>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.1878-11G>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.1878-11G>T||||||,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|14/15|c.1878-11G>T||||||,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000608642|protein_coding|5/5|c.761+26963G>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000610186|protein_coding|6/6|c.908+5936G>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000609799|protein_coding|4/4|c.482+38819G>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|13/14|c.1722-11G>T||||||,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|13/14|c.1878-11G>T||||||,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|12/13|c.1722-11G>T||||||,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000452586|protein_coding|9/10|c.1275-11G>T||||||,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|12/13|c.1731-11G>T|||||| 22 33679157 . C T . . ANN=T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.1877+31G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.1877+31G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.1877+31G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.1877+31G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.1877+31G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.1877+31G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.1877+31G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.1877+31G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.1877+31G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.1877+31G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.1877+31G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.1877+31G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.1877+31G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.1877+31G>A||||||,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|14/15|c.1877+31G>A||||||,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000608642|protein_coding|5/5|c.761+21058G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000610186|protein_coding|6/6|c.908+31G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000609799|protein_coding|4/4|c.482+32914G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|13/14|c.1721+31G>A||||||,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|13/14|c.1877+31G>A||||||,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|12/13|c.1721+31G>A||||||,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000452586|protein_coding|9/10|c.1274+31G>A||||||,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|12/13|c.1731-5916G>A|||||| 22 33679238 . T C . . ANN=C|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|14/16|c.1827A>G|p.Ser609Ser|2399/4409|1827/2271|609/756||,C|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000610186|protein_coding|6/7|c.858A>G|p.Ser286Ser|858/1736|858/978|286/325||WARNING_TRANSCRIPT_NO_START_CODON,C|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|13/15|c.1671A>G|p.Ser557Ser|2160/4170|1671/2115|557/704||,C|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|13/15|c.1827A>G|p.Ser609Ser|2343/4138|1827/2271|609/756||,C|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|12/14|c.1671A>G|p.Ser557Ser|2173/3955|1671/2115|557/704||,C|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000452586|protein_coding|9/11|c.1224A>G|p.Ser408Ser|1321/2008|1224/1668|408/555||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.1827A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.1827A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.1827A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.1827A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.1827A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.1827A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.1827A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.1827A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.1827A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.1827A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.1827A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.1827A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.1827A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.1827A>G||||||,C|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000608642|protein_coding|5/5|c.761+20977A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000609799|protein_coding|4/4|c.482+32833A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|12/13|c.1731-5997A>G|||||| 22 33679277 . C T . . ANN=T|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|14/16|c.1788G>A|p.Ala596Ala|2360/4409|1788/2271|596/756||,T|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000610186|protein_coding|6/7|c.819G>A|p.Ala273Ala|819/1736|819/978|273/325||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|13/15|c.1632G>A|p.Ala544Ala|2121/4170|1632/2115|544/704||,T|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|13/15|c.1788G>A|p.Ala596Ala|2304/4138|1788/2271|596/756||,T|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|12/14|c.1632G>A|p.Ala544Ala|2134/3955|1632/2115|544/704||,T|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000452586|protein_coding|9/11|c.1185G>A|p.Ala395Ala|1282/2008|1185/1668|395/555||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.1788G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.1788G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.1788G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.1788G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.1788G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.1788G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.1788G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.1788G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.1788G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.1788G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.1788G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.1788G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.1788G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.1788G>A||||||,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000608642|protein_coding|5/5|c.761+20938G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000609799|protein_coding|4/4|c.482+32794G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|12/13|c.1731-6036G>A|||||| 22 33679319 . C T . . ANN=T|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|14/16|c.1746G>A|p.Gln582Gln|2318/4409|1746/2271|582/756||,T|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000610186|protein_coding|6/7|c.777G>A|p.Gln259Gln|777/1736|777/978|259/325||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|13/15|c.1590G>A|p.Gln530Gln|2079/4170|1590/2115|530/704||,T|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|13/15|c.1746G>A|p.Gln582Gln|2262/4138|1746/2271|582/756||,T|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|12/14|c.1590G>A|p.Gln530Gln|2092/3955|1590/2115|530/704||,T|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000452586|protein_coding|9/11|c.1143G>A|p.Gln381Gln|1240/2008|1143/1668|381/555||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.1746G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.1746G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.1746G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.1746G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.1746G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.1746G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.1746G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.1746G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.1746G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.1746G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.1746G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.1746G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.1746G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.1746G>A||||||,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000608642|protein_coding|5/5|c.761+20896G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000609799|protein_coding|4/4|c.482+32752G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|12/13|c.1731-6078G>A|||||| 22 33679358 . A G . . ANN=G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.1731-24T>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.1731-24T>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.1731-24T>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.1731-24T>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.1731-24T>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.1731-24T>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.1731-24T>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.1731-24T>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.1731-24T>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.1731-24T>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.1731-24T>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.1731-24T>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.1731-24T>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.1731-24T>C||||||,G|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|13/15|c.1731-24T>C||||||,G|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000608642|protein_coding|5/5|c.761+20857T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000610186|protein_coding|5/6|c.762-24T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000609799|protein_coding|4/4|c.482+32713T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|12/14|c.1575-24T>C||||||,G|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|12/14|c.1731-24T>C||||||,G|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|11/13|c.1575-24T>C||||||,G|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000452586|protein_coding|8/10|c.1128-24T>C||||||,G|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|12/13|c.1731-6117T>C|||||| 22 33700270 . T C . . ANN=C|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|13/16|c.1675A>G|p.Met559Val|2247/4409|1675/2271|559/756||,C|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000608642|protein_coding|5/6|c.706A>G|p.Met236Val|706/5368|706/831|236/276||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000610186|protein_coding|5/7|c.706A>G|p.Met236Val|706/1736|706/978|236/325||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|12/15|c.1519A>G|p.Met507Val|2008/4170|1519/2115|507/704||,C|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|12/15|c.1675A>G|p.Met559Val|2191/4138|1675/2271|559/756||,C|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|11/14|c.1519A>G|p.Met507Val|2021/3955|1519/2115|507/704||,C|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000452586|protein_coding|8/11|c.1072A>G|p.Met358Val|1169/2008|1072/1668|358/555||,C|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|12/14|c.1675A>G|p.Met559Val|1877/2533|1675/2124|559/707||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.1675A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.1675A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.1675A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.1675A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.1675A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.1675A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.1675A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.1675A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.1675A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.1675A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.1675A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.1675A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.1675A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.1675A>G||||||,C|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000609799|protein_coding|4/4|c.482+11801A>G||||||WARNING_TRANSCRIPT_NO_START_CODON 22 33700289 . C G . . ANN=G|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|13/16|c.1656G>C|p.Lys552Asn|2228/4409|1656/2271|552/756||,G|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000608642|protein_coding|5/6|c.687G>C|p.Lys229Asn|687/5368|687/831|229/276||WARNING_TRANSCRIPT_NO_START_CODON,G|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000610186|protein_coding|5/7|c.687G>C|p.Lys229Asn|687/1736|687/978|229/325||WARNING_TRANSCRIPT_NO_START_CODON,G|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|12/15|c.1500G>C|p.Lys500Asn|1989/4170|1500/2115|500/704||,G|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|12/15|c.1656G>C|p.Lys552Asn|2172/4138|1656/2271|552/756||,G|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|11/14|c.1500G>C|p.Lys500Asn|2002/3955|1500/2115|500/704||,G|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000452586|protein_coding|8/11|c.1053G>C|p.Lys351Asn|1150/2008|1053/1668|351/555||,G|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|12/14|c.1656G>C|p.Lys552Asn|1858/2533|1656/2124|552/707||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.1656G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.1656G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.1656G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.1656G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.1656G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.1656G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.1656G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.1656G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.1656G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.1656G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.1656G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.1656G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.1656G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.1656G>C||||||,G|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000609799|protein_coding|4/4|c.482+11782G>C||||||WARNING_TRANSCRIPT_NO_START_CODON 22 33700346 . G A . . ANN=A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|13/16|c.1599C>T|p.Ile533Ile|2171/4409|1599/2271|533/756||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000608642|protein_coding|5/6|c.630C>T|p.Ile210Ile|630/5368|630/831|210/276||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000610186|protein_coding|5/7|c.630C>T|p.Ile210Ile|630/1736|630/978|210/325||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|12/15|c.1443C>T|p.Ile481Ile|1932/4170|1443/2115|481/704||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|12/15|c.1599C>T|p.Ile533Ile|2115/4138|1599/2271|533/756||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|11/14|c.1443C>T|p.Ile481Ile|1945/3955|1443/2115|481/704||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000452586|protein_coding|8/11|c.996C>T|p.Ile332Ile|1093/2008|996/1668|332/555||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|12/14|c.1599C>T|p.Ile533Ile|1801/2533|1599/2124|533/707||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.1599C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.1599C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.1599C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.1599C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.1599C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.1599C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.1599C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.1599C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.1599C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.1599C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.1599C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.1599C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.1599C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.1599C>T||||||,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000609799|protein_coding|4/4|c.482+11725C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 33700360 . C T . . ANN=T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|13/16|c.1585G>A|p.Val529Met|2157/4409|1585/2271|529/756||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000608642|protein_coding|5/6|c.616G>A|p.Val206Met|616/5368|616/831|206/276||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000610186|protein_coding|5/7|c.616G>A|p.Val206Met|616/1736|616/978|206/325||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|12/15|c.1429G>A|p.Val477Met|1918/4170|1429/2115|477/704||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|12/15|c.1585G>A|p.Val529Met|2101/4138|1585/2271|529/756||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|11/14|c.1429G>A|p.Val477Met|1931/3955|1429/2115|477/704||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000452586|protein_coding|8/11|c.982G>A|p.Val328Met|1079/2008|982/1668|328/555||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|12/14|c.1585G>A|p.Val529Met|1787/2533|1585/2124|529/707||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.1585G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.1585G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.1585G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.1585G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.1585G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.1585G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.1585G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.1585G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.1585G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.1585G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.1585G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.1585G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.1585G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.1585G>A||||||,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000609799|protein_coding|4/4|c.482+11711G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 33700367 . G A . . ANN=A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|13/16|c.1578C>T|p.Arg526Arg|2150/4409|1578/2271|526/756||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000608642|protein_coding|5/6|c.609C>T|p.Arg203Arg|609/5368|609/831|203/276||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000610186|protein_coding|5/7|c.609C>T|p.Arg203Arg|609/1736|609/978|203/325||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|12/15|c.1422C>T|p.Arg474Arg|1911/4170|1422/2115|474/704||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|12/15|c.1578C>T|p.Arg526Arg|2094/4138|1578/2271|526/756||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|11/14|c.1422C>T|p.Arg474Arg|1924/3955|1422/2115|474/704||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000452586|protein_coding|8/11|c.975C>T|p.Arg325Arg|1072/2008|975/1668|325/555||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|12/14|c.1578C>T|p.Arg526Arg|1780/2533|1578/2124|526/707||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.1578C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.1578C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.1578C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.1578C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.1578C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.1578C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.1578C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.1578C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.1578C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.1578C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.1578C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.1578C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.1578C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.1578C>T||||||,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000609799|protein_coding|4/4|c.482+11704C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 33700397 . G A . . ANN=A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|13/16|c.1548C>T|p.Tyr516Tyr|2120/4409|1548/2271|516/756||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000608642|protein_coding|5/6|c.579C>T|p.Tyr193Tyr|579/5368|579/831|193/276||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000610186|protein_coding|5/7|c.579C>T|p.Tyr193Tyr|579/1736|579/978|193/325||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|12/15|c.1392C>T|p.Tyr464Tyr|1881/4170|1392/2115|464/704||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|12/15|c.1548C>T|p.Tyr516Tyr|2064/4138|1548/2271|516/756||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|11/14|c.1392C>T|p.Tyr464Tyr|1894/3955|1392/2115|464/704||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000452586|protein_coding|8/11|c.945C>T|p.Tyr315Tyr|1042/2008|945/1668|315/555||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|12/14|c.1548C>T|p.Tyr516Tyr|1750/2533|1548/2124|516/707||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.1548C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.1548C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.1548C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.1548C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.1548C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.1548C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.1548C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.1548C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.1548C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.1548C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.1548C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.1548C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.1548C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.1548C>T||||||,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000609799|protein_coding|4/4|c.482+11674C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 33700521 . G A . . ANN=A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.1452-28C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.1452-28C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.1452-28C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.1452-28C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.1452-28C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.1452-28C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.1452-28C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.1452-28C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.1452-28C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.1452-28C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.1452-28C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.1452-28C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.1452-28C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.1452-28C>T||||||,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|12/15|c.1452-28C>T||||||,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000608642|protein_coding|4/5|c.483-28C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000610186|protein_coding|4/6|c.483-28C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000609799|protein_coding|4/4|c.482+11550C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|11/14|c.1296-28C>T||||||,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|11/14|c.1452-28C>T||||||,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|10/13|c.1296-28C>T||||||,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000452586|protein_coding|7/10|c.849-28C>T||||||,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|11/13|c.1452-28C>T|||||| 22 33712033 . G A . . ANN=A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.1451+38C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.1451+38C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.1451+38C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.1451+38C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.1451+38C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.1451+38C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.1451+38C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.1451+38C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.1451+38C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.1451+38C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.1451+38C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.1451+38C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.1451+38C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.1451+38C>T||||||,A|upstream_gene_variant|MODIFIER|SC22CB-1D7.1|ENSG00000230741|transcript|ENST00000453924|antisense||n.-1G>A|||||4818|,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|12/15|c.1451+38C>T||||||,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000608642|protein_coding|4/5|c.482+38C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000610186|protein_coding|4/6|c.482+38C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000609799|protein_coding|4/4|c.482+38C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|11/14|c.1295+38C>T||||||,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|11/14|c.1451+38C>T||||||,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|10/13|c.1295+38C>T||||||,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000452586|protein_coding|7/10|c.848+38C>T||||||,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|11/13|c.1451+38C>T|||||| 22 33733597 . C T . . ANN=T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.1287+35G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.1287+35G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.1287+35G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.1287+35G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.1287+35G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.1287+35G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.1287+35G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.1287+35G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.1287+35G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.1287+35G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.1287+35G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.1287+35G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.1287+35G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.1287+35G>A||||||,T|downstream_gene_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000421768|protein_coding||c.*658G>A|||||158|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|11/15|c.1287+35G>A||||||,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000608642|protein_coding|3/5|c.318+35G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000610186|protein_coding|3/6|c.318+35G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000609799|protein_coding|3/4|c.318+35G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|10/14|c.1132-21363G>A||||||,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|10/14|c.1287+35G>A||||||,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|9/13|c.1132-21363G>A||||||,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000452586|protein_coding|6/10|c.684+35G>A||||||,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|10/13|c.1287+35G>A|||||| 22 33733609 . G T . . ANN=T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.1287+23C>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.1287+23C>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.1287+23C>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.1287+23C>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.1287+23C>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.1287+23C>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.1287+23C>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.1287+23C>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.1287+23C>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.1287+23C>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.1287+23C>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.1287+23C>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.1287+23C>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.1287+23C>A||||||,T|downstream_gene_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000421768|protein_coding||c.*658C>A|||||146|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|11/15|c.1287+23C>A||||||,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000608642|protein_coding|3/5|c.318+23C>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000610186|protein_coding|3/6|c.318+23C>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000609799|protein_coding|3/4|c.318+23C>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|10/14|c.1132-21375C>A||||||,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|10/14|c.1287+23C>A||||||,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|9/13|c.1132-21375C>A||||||,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000452586|protein_coding|6/10|c.684+23C>A||||||,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|10/13|c.1287+23C>A|||||| 22 33733678 . C T . . ANN=T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|11/16|c.1241G>A|p.Arg414Gln|1813/4409|1241/2271|414/756||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000608642|protein_coding|3/6|c.272G>A|p.Arg91Gln|272/5368|272/831|91/276||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000610186|protein_coding|3/7|c.272G>A|p.Arg91Gln|272/1736|272/978|91/325||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000609799|protein_coding|3/5|c.272G>A|p.Arg91Gln|272/581|272/552|91/183||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|10/15|c.1241G>A|p.Arg414Gln|1757/4138|1241/2271|414/756||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000452586|protein_coding|6/11|c.638G>A|p.Arg213Gln|735/2008|638/1668|213/555||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|10/14|c.1241G>A|p.Arg414Gln|1443/2533|1241/2124|414/707||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.1241G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.1241G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.1241G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.1241G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.1241G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.1241G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.1241G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.1241G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.1241G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.1241G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.1241G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.1241G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.1241G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.1241G>A||||||,T|downstream_gene_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000421768|protein_coding||c.*658G>A|||||77|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|10/14|c.1132-21444G>A||||||,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|9/13|c.1132-21444G>A|||||| 22 33733797 . A G . . ANN=G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.1132-10T>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.1132-10T>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.1132-10T>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.1132-10T>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.1132-10T>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.1132-10T>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.1132-10T>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.1132-10T>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.1132-10T>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.1132-10T>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.1132-10T>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.1132-10T>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.1132-10T>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.1132-10T>C||||||,G|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|10/15|c.1132-10T>C||||||,G|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000608642|protein_coding|2/5|c.163-10T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000610186|protein_coding|2/6|c.163-10T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000609799|protein_coding|2/4|c.163-10T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|10/14|c.1132-21563T>C||||||,G|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|9/14|c.1132-10T>C||||||,G|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|9/13|c.1132-21563T>C||||||,G|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000452586|protein_coding|5/10|c.529-10T>C||||||,G|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|9/13|c.1132-10T>C||||||,G|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000421768|protein_coding|5/5|c.529-10T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 33777874 . A G . . ANN=G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.1131+31T>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.1131+31T>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.1131+31T>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.1131+31T>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.1131+31T>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.1131+31T>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.1131+31T>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.1131+31T>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.1131+31T>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.1131+31T>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.1131+31T>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.1131+31T>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.1131+31T>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.1131+31T>C||||||,G|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|10/15|c.1131+31T>C||||||,G|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000608642|protein_coding|2/5|c.162+31T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000610186|protein_coding|2/6|c.162+31T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000609799|protein_coding|2/4|c.162+31T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|10/14|c.1131+31T>C||||||,G|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|9/14|c.1131+31T>C||||||,G|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|9/13|c.1131+31T>C||||||,G|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000452586|protein_coding|5/10|c.528+31T>C||||||,G|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|9/13|c.1131+31T>C||||||,G|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000421768|protein_coding|5/5|c.528+31T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 33777923 . T C . . ANN=C|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|10/16|c.1113A>G|p.Arg371Arg|1685/4409|1113/2271|371/756||,C|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000608642|protein_coding|2/6|c.144A>G|p.Arg48Arg|144/5368|144/831|48/276||WARNING_TRANSCRIPT_NO_START_CODON,C|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000610186|protein_coding|2/7|c.144A>G|p.Arg48Arg|144/1736|144/978|48/325||WARNING_TRANSCRIPT_NO_START_CODON,C|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000609799|protein_coding|2/5|c.144A>G|p.Arg48Arg|144/581|144/552|48/183||WARNING_TRANSCRIPT_NO_START_CODON,C|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|10/15|c.1113A>G|p.Arg371Arg|1602/4170|1113/2115|371/704||,C|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|9/15|c.1113A>G|p.Arg371Arg|1629/4138|1113/2271|371/756||,C|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|9/14|c.1113A>G|p.Arg371Arg|1615/3955|1113/2115|371/704||,C|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000452586|protein_coding|5/11|c.510A>G|p.Arg170Arg|607/2008|510/1668|170/555||,C|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|9/14|c.1113A>G|p.Arg371Arg|1315/2533|1113/2124|371/707||,C|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000421768|protein_coding|5/6|c.510A>G|p.Arg170Arg|607/658|510/561|170/186||WARNING_TRANSCRIPT_NO_STOP_CODON,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.1113A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.1113A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.1113A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.1113A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.1113A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.1113A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.1113A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.1113A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.1113A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.1113A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.1113A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.1113A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.1113A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.1113A>G|||||| 22 33778028 . A G . . ANN=G|splice_region_variant&synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|10/16|c.1008T>C|p.Asp336Asp|1580/4409|1008/2271|336/756||,G|splice_region_variant&synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000608642|protein_coding|2/6|c.39T>C|p.Asp13Asp|39/5368|39/831|13/276||WARNING_TRANSCRIPT_NO_START_CODON,G|splice_region_variant&synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000610186|protein_coding|2/7|c.39T>C|p.Asp13Asp|39/1736|39/978|13/325||WARNING_TRANSCRIPT_NO_START_CODON,G|splice_region_variant&synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000609799|protein_coding|2/5|c.39T>C|p.Asp13Asp|39/581|39/552|13/183||WARNING_TRANSCRIPT_NO_START_CODON,G|splice_region_variant&synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|10/15|c.1008T>C|p.Asp336Asp|1497/4170|1008/2115|336/704||,G|splice_region_variant&synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|9/15|c.1008T>C|p.Asp336Asp|1524/4138|1008/2271|336/756||,G|splice_region_variant&synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|9/14|c.1008T>C|p.Asp336Asp|1510/3955|1008/2115|336/704||,G|splice_region_variant&synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000452586|protein_coding|5/11|c.405T>C|p.Asp135Asp|502/2008|405/1668|135/555||,G|splice_region_variant&synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|9/14|c.1008T>C|p.Asp336Asp|1210/2533|1008/2124|336/707||,G|splice_region_variant&synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000421768|protein_coding|5/6|c.405T>C|p.Asp135Asp|502/658|405/561|135/186||WARNING_TRANSCRIPT_NO_STOP_CODON,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.1008T>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.1008T>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.1008T>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.1008T>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.1008T>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.1008T>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.1008T>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.1008T>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.1008T>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.1008T>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.1008T>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.1008T>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.1008T>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.1008T>C|||||| 22 33780167 . T C . . ANN=C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.1005+11A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.1005+11A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.1005+11A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.1005+11A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.1005+11A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.1005+11A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.1005+11A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.1005+11A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.1005+11A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.1005+11A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.1005+11A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.1005+11A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.1005+11A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.1005+11A>G||||||,C|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|9/15|c.1005+11A>G||||||,C|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000608642|protein_coding|1/5|c.36+11A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000610186|protein_coding|1/6|c.36+11A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000609799|protein_coding|1/4|c.36+11A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|9/14|c.1005+11A>G||||||,C|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|8/14|c.1005+11A>G||||||,C|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|8/13|c.1005+11A>G||||||,C|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000452586|protein_coding|4/10|c.402+11A>G||||||,C|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|8/13|c.1005+11A>G||||||,C|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000421768|protein_coding|4/5|c.402+11A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 33780264 . G A . . ANN=A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|9/16|c.919C>T|p.Leu307Leu|1491/4409|919/2271|307/756||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|9/15|c.919C>T|p.Leu307Leu|1408/4170|919/2115|307/704||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|8/15|c.919C>T|p.Leu307Leu|1435/4138|919/2271|307/756||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|8/14|c.919C>T|p.Leu307Leu|1421/3955|919/2115|307/704||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000452586|protein_coding|4/11|c.316C>T|p.Leu106Leu|413/2008|316/1668|106/555||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|8/14|c.919C>T|p.Leu307Leu|1121/2533|919/2124|307/707||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000421768|protein_coding|4/6|c.316C>T|p.Leu106Leu|413/658|316/561|106/186||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.919C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.919C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.919C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.919C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.919C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.919C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.919C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.919C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.919C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.919C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.919C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.919C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.919C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.919C>T||||||,A|upstream_gene_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000608642|protein_coding||c.-1C>T|||||51|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000610186|protein_coding||c.-1C>T|||||51|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000609799|protein_coding||c.-1C>T|||||51|WARNING_TRANSCRIPT_NO_START_CODON 22 33780307 . G C . . ANN=C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.893-17C>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.893-17C>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.893-17C>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.893-17C>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.893-17C>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.893-17C>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.893-17C>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.893-17C>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.893-17C>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.893-17C>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.893-17C>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.893-17C>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.893-17C>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.893-17C>G||||||,C|upstream_gene_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000608642|protein_coding||c.-1C>G|||||94|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000610186|protein_coding||c.-1C>G|||||94|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000609799|protein_coding||c.-1C>G|||||94|WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|8/15|c.893-17C>G||||||,C|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|8/14|c.893-17C>G||||||,C|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|7/14|c.893-17C>G||||||,C|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|7/13|c.893-17C>G||||||,C|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000452586|protein_coding|3/10|c.290-17C>G||||||,C|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|7/13|c.893-17C>G||||||,C|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000421768|protein_coding|3/5|c.290-17C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 33828097 . G A . . ANN=A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.892+50C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.892+50C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.892+50C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.892+50C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.892+50C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.892+50C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.892+50C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.892+50C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.892+50C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.892+50C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.892+50C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.892+50C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.892+50C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.892+50C>T||||||,A|downstream_gene_variant|MODIFIER|MIR4764|ENSG00000266012|transcript|ENST00000580680|miRNA||n.*88C>T|||||4471|,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|8/15|c.892+50C>T||||||,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|8/14|c.892+50C>T||||||,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|7/14|c.892+50C>T||||||,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|7/13|c.892+50C>T||||||,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000452586|protein_coding|3/10|c.289+50C>T||||||,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|7/13|c.892+50C>T||||||,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000421768|protein_coding|3/5|c.289+50C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 33828280 . T C . . ANN=C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.788-29A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.788-29A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.788-29A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.788-29A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.788-29A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.788-29A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.788-29A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.788-29A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.788-29A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.788-29A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.788-29A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.788-29A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.788-29A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.788-29A>G||||||,C|downstream_gene_variant|MODIFIER|MIR4764|ENSG00000266012|transcript|ENST00000580680|miRNA||n.*88A>G|||||4288|,C|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|7/15|c.788-29A>G||||||,C|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|7/14|c.788-29A>G||||||,C|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|6/14|c.788-29A>G||||||,C|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|6/13|c.788-29A>G||||||,C|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000452586|protein_coding|2/10|c.185-29A>G||||||,C|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|6/13|c.788-29A>G||||||,C|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000421768|protein_coding|2/5|c.185-29A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 33960913 . C T . . ANN=T|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|7/16|c.708G>A|p.Glu236Glu|1280/4409|708/2271|236/756||,T|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|7/15|c.708G>A|p.Glu236Glu|1197/4170|708/2115|236/704||,T|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|6/15|c.708G>A|p.Glu236Glu|1224/4138|708/2271|236/756||,T|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|6/14|c.708G>A|p.Glu236Glu|1210/3955|708/2115|236/704||,T|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000452586|protein_coding|2/11|c.105G>A|p.Glu35Glu|202/2008|105/1668|35/555||,T|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|6/14|c.708G>A|p.Glu236Glu|910/2533|708/2124|236/707||,T|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000421768|protein_coding|2/6|c.105G>A|p.Glu35Glu|202/658|105/561|35/186||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.708G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.708G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.708G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.708G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.708G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.708G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.708G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.708G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.708G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.708G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.708G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.708G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.708G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.708G>A||||||,T|non_coding_exon_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000476315|processed_transcript|1/2|n.93G>A|||||| 22 33961043 . GA G . . ANN=|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.616-39delT||||||,|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.616-39delT||||||,|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.616-39delT||||||,|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.616-39delT||||||,|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.616-39delT||||||,|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.616-39delT||||||,|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.616-39delT||||||,|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.616-39delT||||||,|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.616-39delT||||||,|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.616-39delT||||||,|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.616-39delT||||||,|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.616-39delT||||||,|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.616-39delT||||||,|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.616-39delT||||||,|upstream_gene_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000476315|processed_transcript||n.-1delT|||||39|,|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|6/15|c.616-39delT||||||,|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|6/14|c.616-39delT||||||,|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|5/14|c.616-39delT||||||,|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|5/13|c.616-39delT||||||,|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000452586|protein_coding|1/10|c.13-39delT||||||,|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|5/13|c.616-39delT||||||,|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000421768|protein_coding|1/5|c.13-39delT||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 34000460 . G A . . ANN=A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|6/16|c.576C>T|p.Pro192Pro|1148/4409|576/2271|192/756||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|6/15|c.576C>T|p.Pro192Pro|1065/4170|576/2115|192/704||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|5/15|c.576C>T|p.Pro192Pro|1092/4138|576/2271|192/756||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|5/14|c.576C>T|p.Pro192Pro|1078/3955|576/2115|192/704||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|5/14|c.576C>T|p.Pro192Pro|778/2533|576/2124|192/707||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.576C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.576C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.576C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.576C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.576C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.576C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.576C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.576C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.576C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.576C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.576C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.576C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.576C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.576C>T|||||| 22 34000484 . C T . . ANN=T|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|6/16|c.552G>A|p.Thr184Thr|1124/4409|552/2271|184/756||,T|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|6/15|c.552G>A|p.Thr184Thr|1041/4170|552/2115|184/704||,T|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|5/15|c.552G>A|p.Thr184Thr|1068/4138|552/2271|184/756||,T|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|5/14|c.552G>A|p.Thr184Thr|1054/3955|552/2115|184/704||,T|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|5/14|c.552G>A|p.Thr184Thr|754/2533|552/2124|184/707||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.552G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.552G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.552G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.552G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.552G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.552G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.552G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.552G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.552G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.552G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.552G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.552G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.552G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.552G>A|||||| 22 34022179 . G A . . ANN=A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.491+49C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.491+49C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.491+49C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.491+49C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.491+49C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.491+49C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.491+49C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.491+49C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.491+49C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.491+49C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.491+49C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.491+49C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.491+49C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.491+49C>T||||||,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|5/15|c.491+49C>T||||||,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|5/14|c.491+49C>T||||||,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|4/14|c.491+49C>T||||||,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|4/13|c.491+49C>T||||||,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|4/13|c.491+49C>T|||||| 22 34022219 . T C . . ANN=C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.491+9A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.491+9A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.491+9A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.491+9A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.491+9A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.491+9A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.491+9A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.491+9A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.491+9A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.491+9A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.491+9A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.491+9A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.491+9A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.491+9A>G||||||,C|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|5/15|c.491+9A>G||||||,C|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|5/14|c.491+9A>G||||||,C|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|4/14|c.491+9A>G||||||,C|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|4/13|c.491+9A>G||||||,C|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|4/13|c.491+9A>G|||||| 22 34022284 . G A . . ANN=A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|5/16|c.435C>T|p.Ala145Ala|1007/4409|435/2271|145/756||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|5/15|c.435C>T|p.Ala145Ala|924/4170|435/2115|145/704||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|4/15|c.435C>T|p.Ala145Ala|951/4138|435/2271|145/756||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|4/14|c.435C>T|p.Ala145Ala|937/3955|435/2115|145/704||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|4/14|c.435C>T|p.Ala145Ala|637/2533|435/2124|145/707||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.435C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.435C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.435C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.435C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.435C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.435C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.435C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.435C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.435C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.435C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.435C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.435C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.435C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.435C>T|||||| 22 34022302 . G A . . ANN=A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|5/16|c.417C>T|p.His139His|989/4409|417/2271|139/756||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|5/15|c.417C>T|p.His139His|906/4170|417/2115|139/704||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|4/15|c.417C>T|p.His139His|933/4138|417/2271|139/756||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|4/14|c.417C>T|p.His139His|919/3955|417/2115|139/704||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|4/14|c.417C>T|p.His139His|619/2533|417/2124|139/707||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.417C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.417C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.417C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.417C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.417C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.417C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.417C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.417C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.417C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.417C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.417C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.417C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.417C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.417C>T|||||| 22 34022349 . C G,T . . ANN=G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.409-39G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.409-39G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.409-39G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.409-39G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.409-39G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.409-39G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.409-39G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.409-39G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.409-39G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.409-39G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.409-39G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.409-39G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.409-39G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.409-39G>C||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.409-39G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.409-39G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.409-39G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.409-39G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.409-39G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.409-39G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.409-39G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.409-39G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.409-39G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.409-39G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.409-39G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.409-39G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.409-39G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.409-39G>A||||||,G|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|4/15|c.409-39G>C||||||,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|4/15|c.409-39G>A||||||,G|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|4/14|c.409-39G>C||||||,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|4/14|c.409-39G>A||||||,G|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|3/14|c.409-39G>C||||||,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|3/14|c.409-39G>A||||||,G|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|3/13|c.409-39G>C||||||,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|3/13|c.409-39G>A||||||,G|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|3/13|c.409-39G>C||||||,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|3/13|c.409-39G>A|||||| 22 34046311 . G A . . ANN=A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.408+42C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.408+42C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.408+42C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.408+42C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.408+42C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.408+42C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.408+42C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.408+42C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.408+42C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.408+42C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.408+42C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.408+42C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.408+42C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.408+42C>T||||||,A|downstream_gene_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000430220|protein_coding||c.*559C>T|||||42|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000413114|protein_coding||c.*773C>T|||||43|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000462606|processed_transcript||n.*549C>T|||||50|,A|downstream_gene_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000494763|processed_transcript||n.*537C>T|||||115|,A|downstream_gene_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000434071|protein_coding||c.*562C>T|||||124|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000432776|protein_coding||c.*560C>T|||||270|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000423375|protein_coding||c.*568C>T|||||307|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|4/15|c.408+42C>T||||||,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|4/14|c.408+42C>T||||||,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|3/14|c.408+42C>T||||||,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|3/13|c.408+42C>T||||||,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|3/13|c.408+42C>T|||||| 22 34046345 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|4/15|c.408+8G>A||||||,T|splice_region_variant&intron_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|4/14|c.408+8G>A||||||,T|splice_region_variant&intron_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|3/14|c.408+8G>A||||||,T|splice_region_variant&intron_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|3/13|c.408+8G>A||||||,T|splice_region_variant&intron_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|3/13|c.408+8G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.408+8G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.408+8G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.408+8G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.408+8G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.408+8G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.408+8G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.408+8G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.408+8G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.408+8G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.408+8G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.408+8G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.408+8G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.408+8G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.408+8G>A||||||,T|downstream_gene_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000430220|protein_coding||c.*559G>A|||||8|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000413114|protein_coding||c.*773G>A|||||9|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000462606|processed_transcript||n.*549G>A|||||16|,T|downstream_gene_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000494763|processed_transcript||n.*537G>A|||||81|,T|downstream_gene_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000434071|protein_coding||c.*562G>A|||||90|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000432776|protein_coding||c.*560G>A|||||236|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000423375|protein_coding||c.*568G>A|||||273|WARNING_TRANSCRIPT_INCOMPLETE 22 34046410 . G A . . ANN=A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|4/16|c.351C>T|p.Gly117Gly|923/4409|351/2271|117/756||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|4/15|c.351C>T|p.Gly117Gly|840/4170|351/2115|117/704||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|3/15|c.351C>T|p.Gly117Gly|867/4138|351/2271|117/756||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|3/14|c.351C>T|p.Gly117Gly|853/3955|351/2115|117/704||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|3/14|c.351C>T|p.Gly117Gly|553/2533|351/2124|117/707||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000430220|protein_coding|3/3|c.351C>T|p.Gly117Gly|502/559|351/408|117/135||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000413114|protein_coding|4/4|c.351C>T|p.Gly117Gly|717/773|351/407|117/134||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.351C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.351C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.351C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.351C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.351C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.351C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.351C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.351C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.351C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.351C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.351C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.351C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.351C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.351C>T||||||,A|downstream_gene_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000494763|processed_transcript||n.*537C>T|||||16|,A|downstream_gene_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000434071|protein_coding||c.*562C>T|||||25|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000432776|protein_coding||c.*560C>T|||||171|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000423375|protein_coding||c.*568C>T|||||208|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000462606|processed_transcript|2/2|n.500C>T|||||| 22 34046452 . G A . . ANN=A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|4/16|c.309C>T|p.Ser103Ser|881/4409|309/2271|103/756||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|4/15|c.309C>T|p.Ser103Ser|798/4170|309/2115|103/704||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|3/15|c.309C>T|p.Ser103Ser|825/4138|309/2271|103/756||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|3/14|c.309C>T|p.Ser103Ser|811/3955|309/2115|103/704||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|3/14|c.309C>T|p.Ser103Ser|511/2533|309/2124|103/707||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000430220|protein_coding|3/3|c.309C>T|p.Ser103Ser|460/559|309/408|103/135||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000413114|protein_coding|4/4|c.309C>T|p.Ser103Ser|675/773|309/407|103/134||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000434071|protein_coding|4/4|c.309C>T|p.Ser103Ser|545/562|309/326|103/107||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.309C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.309C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.309C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.309C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.309C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.309C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.309C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.309C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.309C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.309C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.309C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.309C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.309C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.309C>T||||||,A|downstream_gene_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000432776|protein_coding||c.*560C>T|||||129|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000423375|protein_coding||c.*568C>T|||||166|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000462606|processed_transcript|2/2|n.458C>T||||||,A|non_coding_exon_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000494763|processed_transcript|3/3|n.511C>T|||||| 22 34046458 . G A . . ANN=A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|4/16|c.303C>T|p.Thr101Thr|875/4409|303/2271|101/756||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|4/15|c.303C>T|p.Thr101Thr|792/4170|303/2115|101/704||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|3/15|c.303C>T|p.Thr101Thr|819/4138|303/2271|101/756||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|3/14|c.303C>T|p.Thr101Thr|805/3955|303/2115|101/704||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|3/14|c.303C>T|p.Thr101Thr|505/2533|303/2124|101/707||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000430220|protein_coding|3/3|c.303C>T|p.Thr101Thr|454/559|303/408|101/135||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000413114|protein_coding|4/4|c.303C>T|p.Thr101Thr|669/773|303/407|101/134||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000434071|protein_coding|4/4|c.303C>T|p.Thr101Thr|539/562|303/326|101/107||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.303C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.303C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.303C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.303C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.303C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.303C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.303C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.303C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.303C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.303C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.303C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.303C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.303C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.303C>T||||||,A|downstream_gene_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000432776|protein_coding||c.*560C>T|||||123|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000423375|protein_coding||c.*568C>T|||||160|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000462606|processed_transcript|2/2|n.452C>T||||||,A|non_coding_exon_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000494763|processed_transcript|3/3|n.505C>T|||||| 22 34046550 . C T . . ANN=T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|4/16|c.211G>A|p.Glu71Lys|783/4409|211/2271|71/756||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|4/15|c.211G>A|p.Glu71Lys|700/4170|211/2115|71/704||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|3/15|c.211G>A|p.Glu71Lys|727/4138|211/2271|71/756||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|3/14|c.211G>A|p.Glu71Lys|713/3955|211/2115|71/704||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|3/14|c.211G>A|p.Glu71Lys|413/2533|211/2124|71/707||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000430220|protein_coding|3/3|c.211G>A|p.Glu71Lys|362/559|211/408|71/135||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000413114|protein_coding|4/4|c.211G>A|p.Glu71Lys|577/773|211/407|71/134||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000434071|protein_coding|4/4|c.211G>A|p.Glu71Lys|447/562|211/326|71/107||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.211G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.211G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.211G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.211G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.211G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.211G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.211G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.211G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.211G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.211G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.211G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.211G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.211G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.211G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|coiled-coil_region|ENST00000397394|protein_coding|3/15|c.211G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|coiled-coil_region|ENST00000402320|protein_coding|3/14|c.211G>A||||||,T|downstream_gene_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000432776|protein_coding||c.*560G>A|||||31|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000423375|protein_coding||c.*568G>A|||||68|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000462606|processed_transcript|2/2|n.360G>A||||||,T|non_coding_exon_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000494763|processed_transcript|3/3|n.413G>A|||||| 22 34046551 . G A . . ANN=A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|4/16|c.210C>T|p.Arg70Arg|782/4409|210/2271|70/756||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|4/15|c.210C>T|p.Arg70Arg|699/4170|210/2115|70/704||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|3/15|c.210C>T|p.Arg70Arg|726/4138|210/2271|70/756||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|3/14|c.210C>T|p.Arg70Arg|712/3955|210/2115|70/704||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|3/14|c.210C>T|p.Arg70Arg|412/2533|210/2124|70/707||,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000430220|protein_coding|3/3|c.210C>T|p.Arg70Arg|361/559|210/408|70/135||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000413114|protein_coding|4/4|c.210C>T|p.Arg70Arg|576/773|210/407|70/134||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000434071|protein_coding|4/4|c.210C>T|p.Arg70Arg|446/562|210/326|70/107||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.210C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.210C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.210C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.210C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.210C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.210C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.210C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.210C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.210C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.210C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.210C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.210C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.210C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.210C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|coiled-coil_region|ENST00000397394|protein_coding|3/15|c.210C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|coiled-coil_region|ENST00000402320|protein_coding|3/14|c.210C>T||||||,A|downstream_gene_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000432776|protein_coding||c.*560C>T|||||30|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000423375|protein_coding||c.*568C>T|||||67|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000462606|processed_transcript|2/2|n.359C>T||||||,A|non_coding_exon_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000494763|processed_transcript|3/3|n.412C>T|||||| 22 34046582 . C T . . ANN=T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|4/16|c.179G>A|p.Arg60Gln|751/4409|179/2271|60/756||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|4/15|c.179G>A|p.Arg60Gln|668/4170|179/2115|60/704||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|3/15|c.179G>A|p.Arg60Gln|695/4138|179/2271|60/756||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|3/14|c.179G>A|p.Arg60Gln|681/3955|179/2115|60/704||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|3/14|c.179G>A|p.Arg60Gln|381/2533|179/2124|60/707||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000430220|protein_coding|3/3|c.179G>A|p.Arg60Gln|330/559|179/408|60/135||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000413114|protein_coding|4/4|c.179G>A|p.Arg60Gln|545/773|179/407|60/134||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000434071|protein_coding|4/4|c.179G>A|p.Arg60Gln|415/562|179/326|60/107||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant&splice_region_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000432776|protein_coding|3/3|c.179G>A|p.Arg60Gln|559/560|179/180|60/59||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.179G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.179G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.179G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.179G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.179G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.179G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.179G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.179G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.179G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.179G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.179G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.179G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.179G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.179G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|coiled-coil_region|ENST00000397394|protein_coding|3/15|c.179G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|coiled-coil_region|ENST00000402320|protein_coding|3/14|c.179G>A||||||,T|downstream_gene_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000423375|protein_coding||c.*568G>A|||||36|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000462606|processed_transcript|2/2|n.328G>A||||||,T|non_coding_exon_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000494763|processed_transcript|3/3|n.381G>A|||||| 22 34046596 . C G . . ANN=G|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|4/16|c.165G>C|p.Thr55Thr|737/4409|165/2271|55/756||,G|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|4/15|c.165G>C|p.Thr55Thr|654/4170|165/2115|55/704||,G|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|3/15|c.165G>C|p.Thr55Thr|681/4138|165/2271|55/756||,G|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|3/14|c.165G>C|p.Thr55Thr|667/3955|165/2115|55/704||,G|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|3/14|c.165G>C|p.Thr55Thr|367/2533|165/2124|55/707||,G|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000430220|protein_coding|3/3|c.165G>C|p.Thr55Thr|316/559|165/408|55/135||WARNING_TRANSCRIPT_NO_STOP_CODON,G|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000413114|protein_coding|4/4|c.165G>C|p.Thr55Thr|531/773|165/407|55/134||WARNING_TRANSCRIPT_INCOMPLETE,G|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000434071|protein_coding|4/4|c.165G>C|p.Thr55Thr|401/562|165/326|55/107||WARNING_TRANSCRIPT_INCOMPLETE,G|synonymous_variant|LOW|LARGE|ENSG00000133424|transcript|ENST00000432776|protein_coding|3/3|c.165G>C|p.Thr55Thr|545/560|165/180|55/59||WARNING_TRANSCRIPT_NO_STOP_CODON,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.165G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.165G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.165G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.165G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.165G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.165G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.165G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.165G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.165G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.165G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.165G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.165G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.165G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.165G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|coiled-coil_region|ENST00000397394|protein_coding|3/15|c.165G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|coiled-coil_region|ENST00000402320|protein_coding|3/14|c.165G>C||||||,G|downstream_gene_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000423375|protein_coding||c.*568G>C|||||22|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000462606|processed_transcript|2/2|n.314G>C||||||,G|non_coding_exon_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000494763|processed_transcript|3/3|n.367G>C|||||| 22 34046598 . T C . . ANN=C|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|4/16|c.163A>G|p.Thr55Ala|735/4409|163/2271|55/756||,C|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|4/15|c.163A>G|p.Thr55Ala|652/4170|163/2115|55/704||,C|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|3/15|c.163A>G|p.Thr55Ala|679/4138|163/2271|55/756||,C|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|3/14|c.163A>G|p.Thr55Ala|665/3955|163/2115|55/704||,C|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|3/14|c.163A>G|p.Thr55Ala|365/2533|163/2124|55/707||,C|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000430220|protein_coding|3/3|c.163A>G|p.Thr55Ala|314/559|163/408|55/135||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000413114|protein_coding|4/4|c.163A>G|p.Thr55Ala|529/773|163/407|55/134||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000434071|protein_coding|4/4|c.163A>G|p.Thr55Ala|399/562|163/326|55/107||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000432776|protein_coding|3/3|c.163A>G|p.Thr55Ala|543/560|163/180|55/59||WARNING_TRANSCRIPT_NO_STOP_CODON,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.163A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.163A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.163A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.163A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.163A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.163A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.163A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.163A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.163A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.163A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.163A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.163A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.163A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.163A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|coiled-coil_region|ENST00000397394|protein_coding|3/15|c.163A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|coiled-coil_region|ENST00000402320|protein_coding|3/14|c.163A>G||||||,C|downstream_gene_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000423375|protein_coding||c.*568A>G|||||20|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000462606|processed_transcript|2/2|n.312A>G||||||,C|non_coding_exon_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000494763|processed_transcript|3/3|n.365A>G|||||| 22 34046643 . C G . . ANN=G|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|4/16|c.118G>C|p.Val40Leu|690/4409|118/2271|40/756||,G|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|4/15|c.118G>C|p.Val40Leu|607/4170|118/2115|40/704||,G|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|3/15|c.118G>C|p.Val40Leu|634/4138|118/2271|40/756||,G|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|3/14|c.118G>C|p.Val40Leu|620/3955|118/2115|40/704||,G|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|3/14|c.118G>C|p.Val40Leu|320/2533|118/2124|40/707||,G|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000430220|protein_coding|3/3|c.118G>C|p.Val40Leu|269/559|118/408|40/135||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000413114|protein_coding|4/4|c.118G>C|p.Val40Leu|484/773|118/407|40/134||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000434071|protein_coding|4/4|c.118G>C|p.Val40Leu|354/562|118/326|40/107||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000432776|protein_coding|3/3|c.118G>C|p.Val40Leu|498/560|118/180|40/59||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000423375|protein_coding|4/4|c.118G>C|p.Val40Leu|543/568|118/143|40/46||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.118G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.118G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.118G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.118G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.118G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.118G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.118G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.118G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.118G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.118G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.118G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.118G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.118G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.118G>C||||||,G|non_coding_exon_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000462606|processed_transcript|2/2|n.267G>C||||||,G|non_coding_exon_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000494763|processed_transcript|3/3|n.320G>C|||||| 22 34046673 . G A . . ANN=A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.107-19C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.107-19C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.107-19C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.107-19C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.107-19C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.107-19C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.107-19C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.107-19C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.107-19C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.107-19C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.107-19C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.107-19C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.107-19C>T||||||,A|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.107-19C>T||||||,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|3/15|c.107-19C>T||||||,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|3/14|c.107-19C>T||||||,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|2/14|c.107-19C>T||||||,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|2/13|c.107-19C>T||||||,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|2/13|c.107-19C>T||||||,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000430220|protein_coding|2/2|c.107-19C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000413114|protein_coding|3/3|c.107-19C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000462606|processed_transcript|1/1|n.256-19C>T||||||,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000494763|processed_transcript|2/2|n.309-19C>T||||||,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000434071|protein_coding|3/3|c.107-19C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000432776|protein_coding|2/2|c.107-19C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000423375|protein_coding|3/3|c.107-19C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 34157311 . G GTTCCCT . . ANN=TTCCCT|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.106+41_106+46dupAGGGAA||||||,TTCCCT|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.106+41_106+46dupAGGGAA||||||,TTCCCT|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.106+41_106+46dupAGGGAA||||||,TTCCCT|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.106+41_106+46dupAGGGAA||||||,TTCCCT|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.106+41_106+46dupAGGGAA||||||,TTCCCT|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.106+41_106+46dupAGGGAA||||||,TTCCCT|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.106+41_106+46dupAGGGAA||||||,TTCCCT|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.106+41_106+46dupAGGGAA||||||,TTCCCT|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.106+41_106+46dupAGGGAA||||||,TTCCCT|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.106+41_106+46dupAGGGAA||||||,TTCCCT|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.106+41_106+46dupAGGGAA||||||,TTCCCT|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.106+41_106+46dupAGGGAA||||||,TTCCCT|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.106+41_106+46dupAGGGAA||||||,TTCCCT|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.106+41_106+46dupAGGGAA||||||,TTCCCT|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|3/15|c.106+41_106+46dupAGGGAA||||||,TTCCCT|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|3/14|c.106+41_106+46dupAGGGAA||||||,TTCCCT|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|2/14|c.106+41_106+46dupAGGGAA||||||,TTCCCT|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|2/13|c.106+41_106+46dupAGGGAA||||||,TTCCCT|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|2/13|c.106+41_106+46dupAGGGAA||||||,TTCCCT|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000430220|protein_coding|2/2|c.106+41_106+46dupAGGGAA||||||WARNING_TRANSCRIPT_NO_STOP_CODON,TTCCCT|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000413114|protein_coding|3/3|c.106+41_106+46dupAGGGAA||||||WARNING_TRANSCRIPT_INCOMPLETE,TTCCCT|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000494763|processed_transcript|2/2|n.308+41_308+46dupAGGGAA||||||,TTCCCT|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000434071|protein_coding|3/3|c.106+41_106+46dupAGGGAA||||||WARNING_TRANSCRIPT_INCOMPLETE,TTCCCT|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000432776|protein_coding|2/2|c.106+41_106+46dupAGGGAA||||||WARNING_TRANSCRIPT_NO_STOP_CODON,TTCCCT|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000423375|protein_coding|3/3|c.106+41_106+46dupAGGGAA||||||WARNING_TRANSCRIPT_INCOMPLETE 22 34157494 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|3/16|c.-31G>A|||||31|,T|5_prime_UTR_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|3/15|c.-31G>A|||||31|,T|5_prime_UTR_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|2/15|c.-31G>A|||||31|,T|5_prime_UTR_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|2/14|c.-31G>A|||||31|,T|5_prime_UTR_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|2/14|c.-31G>A|||||31|,T|5_prime_UTR_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000430220|protein_coding|2/3|c.-31G>A|||||31|WARNING_TRANSCRIPT_NO_STOP_CODON,T|5_prime_UTR_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000413114|protein_coding|3/4|c.-31G>A|||||31|WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000434071|protein_coding|3/4|c.-31G>A|||||31|WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000432776|protein_coding|2/3|c.-31G>A|||||31|WARNING_TRANSCRIPT_NO_STOP_CODON,T|5_prime_UTR_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000423375|protein_coding|3/4|c.-31G>A|||||31|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000494763|processed_transcript|2/3|n.172G>A|||||| 22 34157496 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|3/16|c.-33G>A|||||33|,T|5_prime_UTR_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|3/15|c.-33G>A|||||33|,T|5_prime_UTR_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|2/15|c.-33G>A|||||33|,T|5_prime_UTR_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|2/14|c.-33G>A|||||33|,T|5_prime_UTR_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|2/14|c.-33G>A|||||33|,T|5_prime_UTR_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000430220|protein_coding|2/3|c.-33G>A|||||33|WARNING_TRANSCRIPT_NO_STOP_CODON,T|5_prime_UTR_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000413114|protein_coding|3/4|c.-33G>A|||||33|WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000434071|protein_coding|3/4|c.-33G>A|||||33|WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000432776|protein_coding|2/3|c.-33G>A|||||33|WARNING_TRANSCRIPT_NO_STOP_CODON,T|5_prime_UTR_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000423375|protein_coding|3/4|c.-33G>A|||||33|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000494763|processed_transcript|2/3|n.170G>A|||||| 22 35463058 . CAG C . . ANN=|5_prime_UTR_variant|MODIFIER|ISX|ENSG00000175329|transcript|ENST00000308700|protein_coding|1/4|c.-20_-19delAG|||||19|INFO_REALIGN_3_PRIME,|5_prime_UTR_variant|MODIFIER|ISX|ENSG00000175329|transcript|ENST00000404699|protein_coding|2/5|c.-20_-19delAG|||||19|INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|RP1-272J12.1|ENSG00000227895|transcript|ENST00000448318|antisense|3/9|n.615-2625_615-2624delCT|||||| 22 35463162 . A G . . ANN=G|missense_variant|MODERATE|ISX|ENSG00000175329|transcript|ENST00000308700|protein_coding|1/4|c.82A>G|p.Ser28Gly|1034/3384|82/738|28/245||,G|missense_variant|MODERATE|ISX|ENSG00000175329|transcript|ENST00000404699|protein_coding|2/5|c.82A>G|p.Ser28Gly|745/3094|82/738|28/245||,G|intron_variant|MODIFIER|RP1-272J12.1|ENSG00000227895|transcript|ENST00000448318|antisense|3/9|n.615-2727T>C|||||| 22 35463167 . G A . . ANN=A|synonymous_variant|LOW|ISX|ENSG00000175329|transcript|ENST00000308700|protein_coding|1/4|c.87G>A|p.Leu29Leu|1039/3384|87/738|29/245||,A|synonymous_variant|LOW|ISX|ENSG00000175329|transcript|ENST00000404699|protein_coding|2/5|c.87G>A|p.Leu29Leu|750/3094|87/738|29/245||,A|intron_variant|MODIFIER|RP1-272J12.1|ENSG00000227895|transcript|ENST00000448318|antisense|3/9|n.615-2732C>T|||||| 22 35463179 . T C . . ANN=C|synonymous_variant|LOW|ISX|ENSG00000175329|transcript|ENST00000308700|protein_coding|1/4|c.99T>C|p.Ile33Ile|1051/3384|99/738|33/245||,C|synonymous_variant|LOW|ISX|ENSG00000175329|transcript|ENST00000404699|protein_coding|2/5|c.99T>C|p.Ile33Ile|762/3094|99/738|33/245||,C|intron_variant|MODIFIER|RP1-272J12.1|ENSG00000227895|transcript|ENST00000448318|antisense|3/9|n.615-2744A>G|||||| 22 35463184 . C T . . ANN=T|missense_variant|MODERATE|ISX|ENSG00000175329|transcript|ENST00000308700|protein_coding|1/4|c.104C>T|p.Ala35Val|1056/3384|104/738|35/245||,T|missense_variant|MODERATE|ISX|ENSG00000175329|transcript|ENST00000404699|protein_coding|2/5|c.104C>T|p.Ala35Val|767/3094|104/738|35/245||,T|intron_variant|MODIFIER|RP1-272J12.1|ENSG00000227895|transcript|ENST00000448318|antisense|3/9|n.615-2749G>A|||||| 22 35463215 . T C . . ANN=C|synonymous_variant|LOW|ISX|ENSG00000175329|transcript|ENST00000308700|protein_coding|1/4|c.135T>C|p.Asp45Asp|1087/3384|135/738|45/245||,C|synonymous_variant|LOW|ISX|ENSG00000175329|transcript|ENST00000404699|protein_coding|2/5|c.135T>C|p.Asp45Asp|798/3094|135/738|45/245||,C|intron_variant|MODIFIER|RP1-272J12.1|ENSG00000227895|transcript|ENST00000448318|antisense|3/9|n.615-2780A>G|||||| 22 35463225 . C T . . ANN=T|missense_variant|MODERATE|ISX|ENSG00000175329|transcript|ENST00000308700|protein_coding|1/4|c.145C>T|p.Pro49Ser|1097/3384|145/738|49/245||,T|missense_variant|MODERATE|ISX|ENSG00000175329|transcript|ENST00000404699|protein_coding|2/5|c.145C>T|p.Pro49Ser|808/3094|145/738|49/245||,T|intron_variant|MODIFIER|RP1-272J12.1|ENSG00000227895|transcript|ENST00000448318|antisense|3/9|n.615-2790G>A|||||| 22 35463249 . C T . . ANN=T|missense_variant|MODERATE|ISX|ENSG00000175329|transcript|ENST00000308700|protein_coding|1/4|c.169C>T|p.Pro57Ser|1121/3384|169/738|57/245||,T|missense_variant|MODERATE|ISX|ENSG00000175329|transcript|ENST00000404699|protein_coding|2/5|c.169C>T|p.Pro57Ser|832/3094|169/738|57/245||,T|intron_variant|MODIFIER|RP1-272J12.1|ENSG00000227895|transcript|ENST00000448318|antisense|3/9|n.615-2814G>A|||||| 22 35463263 . G A . . ANN=A|synonymous_variant|LOW|ISX|ENSG00000175329|transcript|ENST00000308700|protein_coding|1/4|c.183G>A|p.Ala61Ala|1135/3384|183/738|61/245||,A|synonymous_variant|LOW|ISX|ENSG00000175329|transcript|ENST00000404699|protein_coding|2/5|c.183G>A|p.Ala61Ala|846/3094|183/738|61/245||,A|intron_variant|MODIFIER|RP1-272J12.1|ENSG00000227895|transcript|ENST00000448318|antisense|3/9|n.615-2828C>T|||||| 22 35463333 . T G . . ANN=G|intron_variant|MODIFIER|RP1-272J12.1|ENSG00000227895|transcript|ENST00000448318|antisense|3/9|n.615-2898A>C||||||,G|intron_variant|MODIFIER|ISX|ENSG00000175329|transcript|ENST00000308700|protein_coding|1/3|c.229+24T>G||||||,G|intron_variant|MODIFIER|ISX|ENSG00000175329|transcript|ENST00000404699|protein_coding|2/4|c.229+24T>G|||||| 22 35478486 . A C . . ANN=C|intron_variant|MODIFIER|ISX|ENSG00000175329|transcript|ENST00000308700|protein_coding|1/3|c.230-25A>C||||||,C|intron_variant|MODIFIER|ISX|ENSG00000175329|transcript|ENST00000404699|protein_coding|2/4|c.230-25A>C|||||| 22 35478518 . G A . . ANN=A|synonymous_variant|LOW|ISX|ENSG00000175329|transcript|ENST00000308700|protein_coding|2/4|c.237G>A|p.Arg79Arg|1189/3384|237/738|79/245||,A|synonymous_variant|LOW|ISX|ENSG00000175329|transcript|ENST00000404699|protein_coding|3/5|c.237G>A|p.Arg79Arg|900/3094|237/738|79/245|| 22 35478529 . G A . . ANN=A|missense_variant|MODERATE|ISX|ENSG00000175329|transcript|ENST00000308700|protein_coding|2/4|c.248G>A|p.Arg83Gln|1200/3384|248/738|83/245||,A|missense_variant|MODERATE|ISX|ENSG00000175329|transcript|ENST00000404699|protein_coding|3/5|c.248G>A|p.Arg83Gln|911/3094|248/738|83/245||,A|sequence_feature|LOW|ISX|ENSG00000175329|DNA-binding_region:Homeobox|ENST00000404699|protein_coding|3/5|c.248G>A||||||,A|sequence_feature|LOW|ISX|ENSG00000175329|DNA-binding_region:Homeobox|ENST00000404699|protein_coding|4/5|c.248G>A|||||| 22 35478592 . C T . . ANN=T|missense_variant|MODERATE|ISX|ENSG00000175329|transcript|ENST00000308700|protein_coding|2/4|c.311C>T|p.Thr104Ile|1263/3384|311/738|104/245||,T|missense_variant|MODERATE|ISX|ENSG00000175329|transcript|ENST00000404699|protein_coding|3/5|c.311C>T|p.Thr104Ile|974/3094|311/738|104/245||,T|sequence_feature|LOW|ISX|ENSG00000175329|DNA-binding_region:Homeobox|ENST00000404699|protein_coding|3/5|c.311C>T||||||,T|sequence_feature|LOW|ISX|ENSG00000175329|DNA-binding_region:Homeobox|ENST00000404699|protein_coding|4/5|c.311C>T|||||| 22 35478644 . C T . . ANN=T|synonymous_variant|LOW|ISX|ENSG00000175329|transcript|ENST00000308700|protein_coding|2/4|c.363C>T|p.Leu121Leu|1315/3384|363/738|121/245||,T|synonymous_variant|LOW|ISX|ENSG00000175329|transcript|ENST00000404699|protein_coding|3/5|c.363C>T|p.Leu121Leu|1026/3094|363/738|121/245||,T|sequence_feature|LOW|ISX|ENSG00000175329|DNA-binding_region:Homeobox|ENST00000404699|protein_coding|3/5|c.363C>T||||||,T|sequence_feature|LOW|ISX|ENSG00000175329|DNA-binding_region:Homeobox|ENST00000404699|protein_coding|4/5|c.363C>T|||||| 22 35478645 . C G . . ANN=G|missense_variant|MODERATE|ISX|ENSG00000175329|transcript|ENST00000308700|protein_coding|2/4|c.364C>G|p.Pro122Ala|1316/3384|364/738|122/245||,G|missense_variant|MODERATE|ISX|ENSG00000175329|transcript|ENST00000404699|protein_coding|3/5|c.364C>G|p.Pro122Ala|1027/3094|364/738|122/245||,G|sequence_feature|LOW|ISX|ENSG00000175329|DNA-binding_region:Homeobox|ENST00000404699|protein_coding|3/5|c.364C>G||||||,G|sequence_feature|LOW|ISX|ENSG00000175329|DNA-binding_region:Homeobox|ENST00000404699|protein_coding|4/5|c.364C>G|||||| 22 35478688 . C T . . ANN=T|sequence_feature|LOW|ISX|ENSG00000175329|DNA-binding_region:Homeobox|ENST00000404699|protein_coding|3/5|c.381+26C>T||||||,T|sequence_feature|LOW|ISX|ENSG00000175329|DNA-binding_region:Homeobox|ENST00000404699|protein_coding|4/5|c.381+26C>T||||||,T|intron_variant|MODIFIER|ISX|ENSG00000175329|transcript|ENST00000308700|protein_coding|2/3|c.381+26C>T||||||,T|intron_variant|MODIFIER|ISX|ENSG00000175329|transcript|ENST00000404699|protein_coding|3/4|c.381+26C>T|||||| 22 35480400 . A T . . ANN=T|stop_gained|HIGH|ISX|ENSG00000175329|transcript|ENST00000308700|protein_coding|3/4|c.406A>T|p.Lys136*|1358/3384|406/738|136/245||,T|stop_gained|HIGH|ISX|ENSG00000175329|transcript|ENST00000404699|protein_coding|4/5|c.406A>T|p.Lys136*|1069/3094|406/738|136/245||,T|sequence_feature|LOW|ISX|ENSG00000175329|DNA-binding_region:Homeobox|ENST00000404699|protein_coding|3/5|c.406A>T||||||,T|sequence_feature|LOW|ISX|ENSG00000175329|DNA-binding_region:Homeobox|ENST00000404699|protein_coding|4/5|c.406A>T||||||;LOF=(ISX|ENSG00000175329|2|1.00);NMD=(ISX|ENSG00000175329|2|1.00) 22 35480407 . G A . . ANN=A|missense_variant|MODERATE|ISX|ENSG00000175329|transcript|ENST00000308700|protein_coding|3/4|c.413G>A|p.Arg138Gln|1365/3384|413/738|138/245||,A|missense_variant|MODERATE|ISX|ENSG00000175329|transcript|ENST00000404699|protein_coding|4/5|c.413G>A|p.Arg138Gln|1076/3094|413/738|138/245||,A|sequence_feature|LOW|ISX|ENSG00000175329|DNA-binding_region:Homeobox|ENST00000404699|protein_coding|3/5|c.413G>A||||||,A|sequence_feature|LOW|ISX|ENSG00000175329|DNA-binding_region:Homeobox|ENST00000404699|protein_coding|4/5|c.413G>A|||||| 22 35480422 . T C . . ANN=C|missense_variant|MODERATE|ISX|ENSG00000175329|transcript|ENST00000308700|protein_coding|3/4|c.428T>C|p.Ile143Thr|1380/3384|428/738|143/245||,C|missense_variant|MODERATE|ISX|ENSG00000175329|transcript|ENST00000404699|protein_coding|4/5|c.428T>C|p.Ile143Thr|1091/3094|428/738|143/245|| 22 35480467 . C T . . ANN=T|missense_variant|MODERATE|ISX|ENSG00000175329|transcript|ENST00000308700|protein_coding|3/4|c.473C>T|p.Ala158Val|1425/3384|473/738|158/245||,T|missense_variant|MODERATE|ISX|ENSG00000175329|transcript|ENST00000404699|protein_coding|4/5|c.473C>T|p.Ala158Val|1136/3094|473/738|158/245|| 22 35481455 . G A . . ANN=A|synonymous_variant|LOW|ISX|ENSG00000175329|transcript|ENST00000308700|protein_coding|4/4|c.507G>A|p.Thr169Thr|1459/3384|507/738|169/245||,A|synonymous_variant|LOW|ISX|ENSG00000175329|transcript|ENST00000404699|protein_coding|5/5|c.507G>A|p.Thr169Thr|1170/3094|507/738|169/245|| 22 35481461 . A C . . ANN=C|synonymous_variant|LOW|ISX|ENSG00000175329|transcript|ENST00000308700|protein_coding|4/4|c.513A>C|p.Thr171Thr|1465/3384|513/738|171/245||,C|synonymous_variant|LOW|ISX|ENSG00000175329|transcript|ENST00000404699|protein_coding|5/5|c.513A>C|p.Thr171Thr|1176/3094|513/738|171/245|| 22 35481493 . C T . . ANN=T|missense_variant|MODERATE|ISX|ENSG00000175329|transcript|ENST00000308700|protein_coding|4/4|c.545C>T|p.Thr182Met|1497/3384|545/738|182/245||,T|missense_variant|MODERATE|ISX|ENSG00000175329|transcript|ENST00000404699|protein_coding|5/5|c.545C>T|p.Thr182Met|1208/3094|545/738|182/245|| 22 35481505 . C T . . ANN=T|missense_variant|MODERATE|ISX|ENSG00000175329|transcript|ENST00000308700|protein_coding|4/4|c.557C>T|p.Pro186Leu|1509/3384|557/738|186/245||,T|missense_variant|MODERATE|ISX|ENSG00000175329|transcript|ENST00000404699|protein_coding|5/5|c.557C>T|p.Pro186Leu|1220/3094|557/738|186/245|| 22 35481661 . G T . . ANN=T|missense_variant|MODERATE|ISX|ENSG00000175329|transcript|ENST00000308700|protein_coding|4/4|c.713G>T|p.Gly238Val|1665/3384|713/738|238/245||,T|missense_variant|MODERATE|ISX|ENSG00000175329|transcript|ENST00000404699|protein_coding|5/5|c.713G>T|p.Gly238Val|1376/3094|713/738|238/245|| 22 35481711 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|ISX|ENSG00000175329|transcript|ENST00000308700|protein_coding|4/4|c.*25G>A|||||25|,A|3_prime_UTR_variant|MODIFIER|ISX|ENSG00000175329|transcript|ENST00000404699|protein_coding|5/5|c.*25G>A|||||25| 22 35658379 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000216106|protein_coding|2/11|c.-5C>T|||||5|,T|5_prime_UTR_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000444518|protein_coding|2/12|c.-447C>T|||||2330|,T|5_prime_UTR_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|2/12|n.-5C>T|||||5|,T|upstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000464480|retained_intron||n.-1C>T|||||377|,T|downstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000466438|processed_transcript||n.*575C>T|||||3798|,T|intron_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000420166|protein_coding|1/3|c.-296-692C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000455359|protein_coding|1/4|c.-411-692C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|2/12|n.-5C>T||||||,T|non_coding_exon_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000498325|retained_intron|1/4|n.533C>T|||||| 22 35659739 . C G . . ANN=G|intron_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000216106|protein_coding|3/10|c.181-50C>G||||||,G|intron_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000420166|protein_coding|2/3|c.-147-50C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000444518|protein_coding|3/11|c.-262-50C>G||||||,G|intron_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|3/11|n.181-50C>G||||||,G|intron_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000455359|protein_coding|2/4|c.-262-50C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000498325|retained_intron|2/3|n.718-50C>G||||||,G|intron_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000464480|retained_intron|1/2|n.465-50C>G|||||| 22 35659741 . G T . . ANN=T|intron_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000216106|protein_coding|3/10|c.181-48G>T||||||,T|intron_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000420166|protein_coding|2/3|c.-147-48G>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000444518|protein_coding|3/11|c.-262-48G>T||||||,T|intron_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|3/11|n.181-48G>T||||||,T|intron_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000455359|protein_coding|2/4|c.-262-48G>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000498325|retained_intron|2/3|n.718-48G>T||||||,T|intron_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000464480|retained_intron|1/2|n.465-48G>T|||||| 22 35659769 . C G . . ANN=G|intron_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000216106|protein_coding|3/10|c.181-20C>G||||||,G|intron_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000420166|protein_coding|2/3|c.-147-20C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000444518|protein_coding|3/11|c.-262-20C>G||||||,G|intron_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|3/11|n.181-20C>G||||||,G|intron_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000455359|protein_coding|2/4|c.-262-20C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000498325|retained_intron|2/3|n.718-20C>G||||||,G|intron_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000464480|retained_intron|1/2|n.465-20C>G|||||| 22 35659770 . A G . . ANN=G|intron_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000216106|protein_coding|3/10|c.181-19A>G||||||,G|intron_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000420166|protein_coding|2/3|c.-147-19A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000444518|protein_coding|3/11|c.-262-19A>G||||||,G|intron_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|3/11|n.181-19A>G||||||,G|intron_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000455359|protein_coding|2/4|c.-262-19A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000498325|retained_intron|2/3|n.718-19A>G||||||,G|intron_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000464480|retained_intron|1/2|n.465-19A>G|||||| 22 35660605 . C A . . ANN=A|downstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000498325|retained_intron||n.*867C>A|||||560|,A|intron_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000216106|protein_coding|4/10|c.260-36C>A||||||,A|intron_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000420166|protein_coding|3/3|c.-68-36C>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000444518|protein_coding|5/11|c.-68-36C>A||||||,A|intron_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|5/11|n.*96-36C>A||||||,A|intron_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000455359|protein_coding|4/4|c.-68-36C>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000464480|retained_intron|2/2|n.544-36C>A|||||| 22 35660648 . G A . . ANN=A|synonymous_variant|LOW|HMGXB4|ENSG00000100281|transcript|ENST00000216106|protein_coding|5/11|c.267G>A|p.Ser89Ser|395/4047|267/1806|89/601||,A|5_prime_UTR_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000420166|protein_coding|4/4|c.-61G>A|||||61|WARNING_TRANSCRIPT_NO_STOP_CODON,A|5_prime_UTR_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000444518|protein_coding|6/12|c.-61G>A|||||61|,A|5_prime_UTR_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000455359|protein_coding|5/5|c.-61G>A|||||61|WARNING_TRANSCRIPT_NO_STOP_CODON,A|3_prime_UTR_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|6/12|n.*103G>A|||||654|,A|downstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000498325|retained_intron||n.*867G>A|||||603|,A|non_coding_exon_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|6/12|n.*103G>A||||||,A|non_coding_exon_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000464480|retained_intron|3/3|n.551G>A|||||| 22 35660803 . C T . . ANN=T|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000216106|protein_coding|5/11|c.422C>T|p.Ser141Leu|550/4047|422/1806|141/601||,T|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000420166|protein_coding|4/4|c.95C>T|p.Ser32Leu|497/1257|95/855|32/284||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000444518|protein_coding|6/12|c.95C>T|p.Ser32Leu|676/2178|95/1479|32/492||,T|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000455359|protein_coding|5/5|c.95C>T|p.Ser32Leu|568/1325|95/852|32/283||WARNING_TRANSCRIPT_NO_STOP_CODON,T|3_prime_UTR_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|6/12|n.*258C>T|||||809|,T|downstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000498325|retained_intron||n.*867C>T|||||758|,T|downstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000464480|retained_intron||n.*559C>T|||||147|,T|non_coding_exon_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|6/12|n.*258C>T|||||| 22 35660875 . G T . . ANN=T|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000216106|protein_coding|5/11|c.494G>T|p.Gly165Val|622/4047|494/1806|165/601||,T|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000420166|protein_coding|4/4|c.167G>T|p.Gly56Val|569/1257|167/855|56/284||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000444518|protein_coding|6/12|c.167G>T|p.Gly56Val|748/2178|167/1479|56/492||,T|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000455359|protein_coding|5/5|c.167G>T|p.Gly56Val|640/1325|167/852|56/283||WARNING_TRANSCRIPT_NO_STOP_CODON,T|3_prime_UTR_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|6/12|n.*330G>T|||||881|,T|downstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000498325|retained_intron||n.*867G>T|||||830|,T|downstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000464480|retained_intron||n.*559G>T|||||219|,T|non_coding_exon_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|6/12|n.*330G>T|||||| 22 35660888 . G A . . ANN=A|synonymous_variant|LOW|HMGXB4|ENSG00000100281|transcript|ENST00000216106|protein_coding|5/11|c.507G>A|p.Ser169Ser|635/4047|507/1806|169/601||,A|synonymous_variant|LOW|HMGXB4|ENSG00000100281|transcript|ENST00000420166|protein_coding|4/4|c.180G>A|p.Ser60Ser|582/1257|180/855|60/284||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|HMGXB4|ENSG00000100281|transcript|ENST00000444518|protein_coding|6/12|c.180G>A|p.Ser60Ser|761/2178|180/1479|60/492||,A|synonymous_variant|LOW|HMGXB4|ENSG00000100281|transcript|ENST00000455359|protein_coding|5/5|c.180G>A|p.Ser60Ser|653/1325|180/852|60/283||WARNING_TRANSCRIPT_NO_STOP_CODON,A|3_prime_UTR_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|6/12|n.*343G>A|||||894|,A|downstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000498325|retained_intron||n.*867G>A|||||843|,A|downstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000464480|retained_intron||n.*559G>A|||||232|,A|non_coding_exon_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|6/12|n.*343G>A|||||| 22 35660939 . G T . . ANN=T|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000216106|protein_coding|5/11|c.558G>T|p.Glu186Asp|686/4047|558/1806|186/601||,T|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000420166|protein_coding|4/4|c.231G>T|p.Glu77Asp|633/1257|231/855|77/284||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000444518|protein_coding|6/12|c.231G>T|p.Glu77Asp|812/2178|231/1479|77/492||,T|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000455359|protein_coding|5/5|c.231G>T|p.Glu77Asp|704/1325|231/852|77/283||WARNING_TRANSCRIPT_NO_STOP_CODON,T|3_prime_UTR_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|6/12|n.*394G>T|||||945|,T|downstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000498325|retained_intron||n.*867G>T|||||894|,T|downstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000464480|retained_intron||n.*559G>T|||||283|,T|non_coding_exon_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|6/12|n.*394G>T|||||| 22 35661087 . C T . . ANN=T|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000216106|protein_coding|5/11|c.706C>T|p.Leu236Phe|834/4047|706/1806|236/601||,T|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000420166|protein_coding|4/4|c.379C>T|p.Leu127Phe|781/1257|379/855|127/284||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000444518|protein_coding|6/12|c.379C>T|p.Leu127Phe|960/2178|379/1479|127/492||,T|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000455359|protein_coding|5/5|c.379C>T|p.Leu127Phe|852/1325|379/852|127/283||WARNING_TRANSCRIPT_NO_STOP_CODON,T|3_prime_UTR_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|6/12|n.*542C>T|||||1093|,T|downstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000498325|retained_intron||n.*867C>T|||||1042|,T|downstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000464480|retained_intron||n.*559C>T|||||431|,T|non_coding_exon_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|6/12|n.*542C>T|||||| 22 35661127 . G A . . ANN=A|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000216106|protein_coding|5/11|c.746G>A|p.Arg249Gln|874/4047|746/1806|249/601||,A|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000420166|protein_coding|4/4|c.419G>A|p.Arg140Gln|821/1257|419/855|140/284||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000444518|protein_coding|6/12|c.419G>A|p.Arg140Gln|1000/2178|419/1479|140/492||,A|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000455359|protein_coding|5/5|c.419G>A|p.Arg140Gln|892/1325|419/852|140/283||WARNING_TRANSCRIPT_NO_STOP_CODON,A|3_prime_UTR_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|6/12|n.*582G>A|||||1133|,A|downstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000498325|retained_intron||n.*867G>A|||||1082|,A|downstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000464480|retained_intron||n.*559G>A|||||471|,A|non_coding_exon_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|6/12|n.*582G>A|||||| 22 35661227 . T C . . ANN=C|synonymous_variant|LOW|HMGXB4|ENSG00000100281|transcript|ENST00000216106|protein_coding|5/11|c.846T>C|p.Leu282Leu|974/4047|846/1806|282/601||,C|synonymous_variant|LOW|HMGXB4|ENSG00000100281|transcript|ENST00000420166|protein_coding|4/4|c.519T>C|p.Leu173Leu|921/1257|519/855|173/284||WARNING_TRANSCRIPT_NO_STOP_CODON,C|synonymous_variant|LOW|HMGXB4|ENSG00000100281|transcript|ENST00000444518|protein_coding|6/12|c.519T>C|p.Leu173Leu|1100/2178|519/1479|173/492||,C|synonymous_variant|LOW|HMGXB4|ENSG00000100281|transcript|ENST00000455359|protein_coding|5/5|c.519T>C|p.Leu173Leu|992/1325|519/852|173/283||WARNING_TRANSCRIPT_NO_STOP_CODON,C|3_prime_UTR_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|6/12|n.*682T>C|||||1233|,C|downstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000498325|retained_intron||n.*867T>C|||||1182|,C|downstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000464480|retained_intron||n.*559T>C|||||571|,C|non_coding_exon_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|6/12|n.*682T>C|||||| 22 35661331 . A G . . ANN=G|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000216106|protein_coding|5/11|c.950A>G|p.Lys317Arg|1078/4047|950/1806|317/601||,G|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000420166|protein_coding|4/4|c.623A>G|p.Lys208Arg|1025/1257|623/855|208/284||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000444518|protein_coding|6/12|c.623A>G|p.Lys208Arg|1204/2178|623/1479|208/492||,G|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000455359|protein_coding|5/5|c.623A>G|p.Lys208Arg|1096/1325|623/852|208/283||WARNING_TRANSCRIPT_NO_STOP_CODON,G|3_prime_UTR_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|6/12|n.*786A>G|||||1337|,G|downstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000498325|retained_intron||n.*867A>G|||||1286|,G|downstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000464480|retained_intron||n.*559A>G|||||675|,G|non_coding_exon_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|6/12|n.*786A>G|||||| 22 35661373 . A G . . ANN=G|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000216106|protein_coding|5/11|c.992A>G|p.Lys331Arg|1120/4047|992/1806|331/601||,G|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000420166|protein_coding|4/4|c.665A>G|p.Lys222Arg|1067/1257|665/855|222/284||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000444518|protein_coding|6/12|c.665A>G|p.Lys222Arg|1246/2178|665/1479|222/492||,G|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000455359|protein_coding|5/5|c.665A>G|p.Lys222Arg|1138/1325|665/852|222/283||WARNING_TRANSCRIPT_NO_STOP_CODON,G|3_prime_UTR_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|6/12|n.*828A>G|||||1379|,G|downstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000498325|retained_intron||n.*867A>G|||||1328|,G|downstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000464480|retained_intron||n.*559A>G|||||717|,G|non_coding_exon_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|6/12|n.*828A>G|||||| 22 35661389 . G A . . ANN=A|synonymous_variant|LOW|HMGXB4|ENSG00000100281|transcript|ENST00000216106|protein_coding|5/11|c.1008G>A|p.Glu336Glu|1136/4047|1008/1806|336/601||,A|synonymous_variant|LOW|HMGXB4|ENSG00000100281|transcript|ENST00000420166|protein_coding|4/4|c.681G>A|p.Glu227Glu|1083/1257|681/855|227/284||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|HMGXB4|ENSG00000100281|transcript|ENST00000444518|protein_coding|6/12|c.681G>A|p.Glu227Glu|1262/2178|681/1479|227/492||,A|synonymous_variant|LOW|HMGXB4|ENSG00000100281|transcript|ENST00000455359|protein_coding|5/5|c.681G>A|p.Glu227Glu|1154/1325|681/852|227/283||WARNING_TRANSCRIPT_NO_STOP_CODON,A|3_prime_UTR_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|6/12|n.*844G>A|||||1395|,A|downstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000498325|retained_intron||n.*867G>A|||||1344|,A|downstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000464480|retained_intron||n.*559G>A|||||733|,A|non_coding_exon_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|6/12|n.*844G>A|||||| 22 35661486 . G A . . ANN=A|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000216106|protein_coding|5/11|c.1105G>A|p.Ala369Thr|1233/4047|1105/1806|369/601||,A|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000420166|protein_coding|4/4|c.778G>A|p.Ala260Thr|1180/1257|778/855|260/284||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000444518|protein_coding|6/12|c.778G>A|p.Ala260Thr|1359/2178|778/1479|260/492||,A|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000455359|protein_coding|5/5|c.778G>A|p.Ala260Thr|1251/1325|778/852|260/283||WARNING_TRANSCRIPT_NO_STOP_CODON,A|3_prime_UTR_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|6/12|n.*941G>A|||||1492|,A|downstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000498325|retained_intron||n.*867G>A|||||1441|,A|downstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000464480|retained_intron||n.*559G>A|||||830|,A|non_coding_exon_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|6/12|n.*941G>A|||||| 22 35661493 . C T . . ANN=T|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000216106|protein_coding|5/11|c.1112C>T|p.Ala371Val|1240/4047|1112/1806|371/601||,T|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000420166|protein_coding|4/4|c.785C>T|p.Ala262Val|1187/1257|785/855|262/284||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000444518|protein_coding|6/12|c.785C>T|p.Ala262Val|1366/2178|785/1479|262/492||,T|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000455359|protein_coding|5/5|c.785C>T|p.Ala262Val|1258/1325|785/852|262/283||WARNING_TRANSCRIPT_NO_STOP_CODON,T|3_prime_UTR_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|6/12|n.*948C>T|||||1499|,T|downstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000498325|retained_intron||n.*867C>T|||||1448|,T|downstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000464480|retained_intron||n.*559C>T|||||837|,T|non_coding_exon_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|6/12|n.*948C>T|||||| 22 35661560 . A G . . ANN=G|splice_region_variant&synonymous_variant|LOW|HMGXB4|ENSG00000100281|transcript|ENST00000455359|protein_coding|5/5|c.852A>G|p.Lys284Lys|1325/1325|852/852|284/283||WARNING_TRANSCRIPT_NO_STOP_CODON,G|synonymous_variant|LOW|HMGXB4|ENSG00000100281|transcript|ENST00000216106|protein_coding|5/11|c.1179A>G|p.Lys393Lys|1307/4047|1179/1806|393/601||,G|synonymous_variant|LOW|HMGXB4|ENSG00000100281|transcript|ENST00000420166|protein_coding|4/4|c.852A>G|p.Lys284Lys|1254/1257|852/855|284/284||WARNING_TRANSCRIPT_NO_STOP_CODON,G|synonymous_variant|LOW|HMGXB4|ENSG00000100281|transcript|ENST00000444518|protein_coding|6/12|c.852A>G|p.Lys284Lys|1433/2178|852/1479|284/492||,G|3_prime_UTR_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|6/12|n.*1015A>G|||||1566|,G|downstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000498325|retained_intron||n.*867A>G|||||1515|,G|downstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000464480|retained_intron||n.*559A>G|||||904|,G|non_coding_exon_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|6/12|n.*1015A>G|||||| 22 35679951 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|HMGXB4|ENSG00000100281|transcript|ENST00000216106|protein_coding|5/10|c.1216-4T>C||||||,C|splice_region_variant&intron_variant|LOW|HMGXB4|ENSG00000100281|transcript|ENST00000444518|protein_coding|6/11|c.889-4T>C||||||,C|splice_region_variant&intron_variant|LOW|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|6/11|n.*1052-4T>C||||||,C|upstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000498212|retained_intron||n.-1T>C|||||2924| 22 35680005 . C T . . ANN=T|synonymous_variant|LOW|HMGXB4|ENSG00000100281|transcript|ENST00000216106|protein_coding|6/11|c.1266C>T|p.Arg422Arg|1394/4047|1266/1806|422/601||,T|synonymous_variant|LOW|HMGXB4|ENSG00000100281|transcript|ENST00000444518|protein_coding|7/12|c.939C>T|p.Arg313Arg|1520/2178|939/1479|313/492||,T|sequence_feature|LOW|HMGXB4|ENSG00000100281|DNA-binding_region:HMG_box|ENST00000216106|protein_coding|8/11|c.1266C>T||||||,T|sequence_feature|LOW|HMGXB4|ENSG00000100281|DNA-binding_region:HMG_box|ENST00000216106|protein_coding|6/11|c.1266C>T||||||,T|sequence_feature|LOW|HMGXB4|ENSG00000100281|DNA-binding_region:HMG_box|ENST00000216106|protein_coding|7/11|c.1266C>T||||||,T|3_prime_UTR_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|7/12|n.*1102C>T|||||20011|,T|upstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000498212|retained_intron||n.-1C>T|||||2870|,T|non_coding_exon_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|7/12|n.*1102C>T|||||| 22 35683463 . C T . . ANN=T|intron_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000216106|protein_coding|8/10|c.1468+18C>T||||||,T|intron_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000444518|protein_coding|9/11|c.1141+18C>T||||||,T|intron_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|9/11|n.*1304+18C>T||||||,T|intron_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000498212|retained_intron|1/2|n.571+18C>T|||||| 22 35683474 . C G . . ANN=G|intron_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000216106|protein_coding|8/10|c.1468+29C>G||||||,G|intron_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000444518|protein_coding|9/11|c.1141+29C>G||||||,G|intron_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|9/11|n.*1304+29C>G||||||,G|intron_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000498212|retained_intron|1/2|n.571+29C>G|||||| 22 35684217 . T C . . ANN=C|intron_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000216106|protein_coding|8/10|c.1469-14T>C||||||,C|intron_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000444518|protein_coding|9/11|c.1142-14T>C||||||,C|intron_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|9/11|n.*1305-14T>C||||||,C|intron_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000498212|retained_intron|1/2|n.572-14T>C|||||| 22 35684269 . C T . . ANN=T|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000216106|protein_coding|9/11|c.1507C>T|p.Pro503Ser|1635/4047|1507/1806|503/601||,T|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000444518|protein_coding|10/12|c.1180C>T|p.Pro394Ser|1761/2178|1180/1479|394/492||,T|3_prime_UTR_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|10/12|n.*1343C>T|||||24275|,T|non_coding_exon_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|10/12|n.*1343C>T||||||,T|non_coding_exon_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000498212|retained_intron|2/3|n.610C>T|||||| 22 35689156 . T C . . ANN=C|downstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000498212|retained_intron||n.*778T>C|||||135|,C|intron_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000216106|protein_coding|10/10|c.1761+49T>C||||||,C|intron_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000444518|protein_coding|11/11|c.1434+49T>C||||||,C|intron_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|11/11|n.*1597+49T>C|||||| 22 35689682 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000216106|protein_coding|11/11|c.*38C>T|||||38|,T|3_prime_UTR_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000444518|protein_coding|12/12|c.*38C>T|||||38|,T|3_prime_UTR_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|12/12|n.*1680C>T|||||29688|,T|downstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000498212|retained_intron||n.*778C>T|||||661|,T|non_coding_exon_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|12/12|n.*1680C>T|||||| 22 35695894 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000411850|protein_coding|1/15|c.-28G>A|||||28|,A|5_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000456128|protein_coding|1/10|c.-28G>A|||||28|WARNING_TRANSCRIPT_INCOMPLETE,A|5_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000449058|protein_coding|1/15|c.-28G>A|||||28|,A|5_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000425375|protein_coding|1/14|c.-28G>A|||||28|,A|5_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|1/17|n.-28G>A|||||28|,A|5_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000439512|nonsense_mediated_decay|1/7|n.-28G>A|||||28|,A|5_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|1/14|n.-28G>A|||||28|,A|5_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000395736|nonsense_mediated_decay|1/6|n.-28G>A|||||28|,A|5_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000449508|nonsense_mediated_decay|1/5|n.-28G>A|||||28|,A|5_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000436462|protein_coding|1/14|c.-92G>A|||||17988|,A|5_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|1/17|c.-335G>A|||||22122|,A|upstream_gene_variant|MODIFIER|RP3-510H16.3|ENSG00000273176|transcript|ENST00000609073|antisense||n.-1C>T|||||360|,A|downstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000216106|protein_coding||c.*1934G>A|||||4137|,A|downstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay||n.*418G>A|||||4094|,A|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000608749|protein_coding|1/4|c.-48+523G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000447733|protein_coding|1/14|c.-48+523G>A||||||,A|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000608674|protein_coding|1/4|c.-48+407G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|1/17|n.-28G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000465529|retained_intron|1/2|n.36G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000487670|retained_intron|1/3|n.31G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000439512|nonsense_mediated_decay|1/7|n.-28G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|1/14|n.-28G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000395736|nonsense_mediated_decay|1/6|n.-28G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000449508|nonsense_mediated_decay|1/5|n.-28G>A|||||| 22 35695905 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000411850|protein_coding|1/15|c.-17C>T|||||17|,T|5_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000456128|protein_coding|1/10|c.-17C>T|||||17|WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000449058|protein_coding|1/15|c.-17C>T|||||17|,T|5_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000425375|protein_coding|1/14|c.-17C>T|||||17|,T|5_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|1/17|n.-17C>T|||||17|,T|5_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000439512|nonsense_mediated_decay|1/7|n.-17C>T|||||17|,T|5_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|1/14|n.-17C>T|||||17|,T|5_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000395736|nonsense_mediated_decay|1/6|n.-17C>T|||||17|,T|5_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000449508|nonsense_mediated_decay|1/5|n.-17C>T|||||17|,T|5_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000436462|protein_coding|1/14|c.-81C>T|||||17977|,T|5_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|1/17|c.-324C>T|||||22111|,T|upstream_gene_variant|MODIFIER|RP3-510H16.3|ENSG00000273176|transcript|ENST00000609073|antisense||n.-1G>A|||||371|,T|downstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000216106|protein_coding||c.*1934C>T|||||4148|,T|downstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay||n.*418C>T|||||4105|,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000608749|protein_coding|1/4|c.-48+534C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000447733|protein_coding|1/14|c.-48+534C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000608674|protein_coding|1/4|c.-48+418C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|1/17|n.-17C>T||||||,T|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000465529|retained_intron|1/2|n.47C>T||||||,T|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000487670|retained_intron|1/3|n.42C>T||||||,T|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000439512|nonsense_mediated_decay|1/7|n.-17C>T||||||,T|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|1/14|n.-17C>T||||||,T|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000395736|nonsense_mediated_decay|1/6|n.-17C>T||||||,T|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000449508|nonsense_mediated_decay|1/5|n.-17C>T|||||| 22 35696014 . C G . . ANN=G|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000411850|protein_coding|1/15|c.52+41C>G||||||,G|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000411850|protein_coding|2/15|c.52+41C>G||||||,G|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000449058|protein_coding|1/15|c.52+41C>G||||||,G|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000449058|protein_coding|2/15|c.52+41C>G||||||,G|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000425375|protein_coding|1/14|c.52+41C>G||||||,G|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000425375|protein_coding|2/14|c.52+41C>G||||||,G|upstream_gene_variant|MODIFIER|RP3-510H16.3|ENSG00000273176|transcript|ENST00000609073|antisense||n.-1G>C|||||480|,G|downstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000216106|protein_coding||c.*1934C>G|||||4257|,G|downstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay||n.*418C>G|||||4214|,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000411850|protein_coding|1/14|c.52+41C>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000608749|protein_coding|1/4|c.-48+643C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000447733|protein_coding|1/14|c.-48+643C>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000608674|protein_coding|1/4|c.-48+527C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000456128|protein_coding|1/9|c.52+41C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000449058|protein_coding|1/14|c.52+41C>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000425375|protein_coding|1/13|c.52+41C>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|1/16|n.52+41C>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000465529|retained_intron|1/1|n.115+41C>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000487670|retained_intron|1/2|n.110+41C>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000439512|nonsense_mediated_decay|1/6|n.52+41C>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|1/13|n.52+41C>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000395736|nonsense_mediated_decay|1/5|n.52+41C>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000449508|nonsense_mediated_decay|1/4|n.52+41C>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000436462|protein_coding|1/13|c.-13+41C>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|1/16|c.-256+41C>G|||||| 22 35713916 . C T . . ANN=T|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000436462|protein_coding|2/14|c.35C>T|p.Thr12Ile|134/1953|35/1365|12/454||,T|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000411850|protein_coding|2/15|c.99C>T|p.Asn33Asn|224/2390|99/1482|33/493||,T|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000456128|protein_coding|2/10|c.99C>T|p.Asn33Asn|228/1133|99/1004|33/333||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000449058|protein_coding|2/15|c.99C>T|p.Asn33Asn|224/2382|99/1479|33/492||,T|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000425375|protein_coding|2/14|c.99C>T|p.Asn33Asn|224/2252|99/1344|33/447||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000411850|protein_coding|3/15|c.99C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000411850|protein_coding|5/15|c.99C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000411850|protein_coding|2/15|c.99C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000411850|protein_coding|4/15|c.99C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000411850|protein_coding|2/15|c.99C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000449058|protein_coding|3/15|c.99C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000449058|protein_coding|5/15|c.99C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000449058|protein_coding|2/15|c.99C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000449058|protein_coding|4/15|c.99C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000449058|protein_coding|2/15|c.99C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000425375|protein_coding|2/14|c.99C>T||||||,T|5_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000608749|protein_coding|2/5|c.-1C>T|||||1|WARNING_TRANSCRIPT_NO_STOP_CODON,T|5_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000447733|protein_coding|2/15|c.-1C>T|||||1|,T|5_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000608674|protein_coding|2/5|c.-1C>T|||||1|WARNING_TRANSCRIPT_NO_STOP_CODON,T|5_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|2/17|c.-209C>T|||||4100|,T|5_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000443206|protein_coding|2/6|c.-1C>T|||||1|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|1/13|n.53-4036C>T||||||,T|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|2/17|n.99C>T||||||,T|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000465529|retained_intron|2/2|n.162C>T||||||,T|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000487670|retained_intron|2/3|n.157C>T||||||,T|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000439512|nonsense_mediated_decay|2/7|n.99C>T||||||,T|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000395736|nonsense_mediated_decay|2/6|n.99C>T||||||,T|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000449508|nonsense_mediated_decay|2/5|n.99C>T|||||| 22 35713931 . C T . . ANN=T|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000436462|protein_coding|2/14|c.50C>T|p.Thr17Ile|149/1953|50/1365|17/454||,T|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000411850|protein_coding|2/15|c.114C>T|p.Asp38Asp|239/2390|114/1482|38/493||,T|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000608749|protein_coding|2/5|c.15C>T|p.Asp5Asp|166/553|15/402|5/133||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000447733|protein_coding|2/15|c.15C>T|p.Asp5Asp|166/2317|15/1383|5/460||,T|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000608674|protein_coding|2/5|c.15C>T|p.Asp5Asp|181/541|15/375|5/124||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000456128|protein_coding|2/10|c.114C>T|p.Asp38Asp|243/1133|114/1004|38/333||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000449058|protein_coding|2/15|c.114C>T|p.Asp38Asp|239/2382|114/1479|38/492||,T|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000425375|protein_coding|2/14|c.114C>T|p.Asp38Asp|239/2252|114/1344|38/447||,T|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000443206|protein_coding|2/6|c.15C>T|p.Asp5Asp|128/567|15/454|5/150||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000411850|protein_coding|3/15|c.114C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000411850|protein_coding|5/15|c.114C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000411850|protein_coding|2/15|c.114C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000411850|protein_coding|4/15|c.114C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000411850|protein_coding|2/15|c.114C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000449058|protein_coding|3/15|c.114C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000449058|protein_coding|5/15|c.114C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000449058|protein_coding|2/15|c.114C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000449058|protein_coding|4/15|c.114C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000449058|protein_coding|2/15|c.114C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000425375|protein_coding|2/14|c.114C>T||||||,T|5_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|2/17|c.-194C>T|||||4085|,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|1/13|n.53-4021C>T||||||,T|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|2/17|n.114C>T||||||,T|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000465529|retained_intron|2/2|n.177C>T||||||,T|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000487670|retained_intron|2/3|n.172C>T||||||,T|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000439512|nonsense_mediated_decay|2/7|n.114C>T||||||,T|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000395736|nonsense_mediated_decay|2/6|n.114C>T||||||,T|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000449508|nonsense_mediated_decay|2/5|n.114C>T|||||| 22 35713966 . C G . . ANN=G|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000411850|protein_coding|3/15|c.137+12C>G||||||,G|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000411850|protein_coding|5/15|c.137+12C>G||||||,G|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000411850|protein_coding|2/15|c.137+12C>G||||||,G|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000411850|protein_coding|4/15|c.137+12C>G||||||,G|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000411850|protein_coding|3/15|c.137+12C>G||||||,G|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000411850|protein_coding|2/15|c.137+12C>G||||||,G|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000447733|protein_coding|3/15|c.38+12C>G||||||,G|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000447733|protein_coding|2/15|c.38+12C>G||||||,G|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000449058|protein_coding|3/15|c.137+12C>G||||||,G|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000449058|protein_coding|5/15|c.137+12C>G||||||,G|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000449058|protein_coding|2/15|c.137+12C>G||||||,G|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000449058|protein_coding|4/15|c.137+12C>G||||||,G|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000449058|protein_coding|3/15|c.137+12C>G||||||,G|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000449058|protein_coding|2/15|c.137+12C>G||||||,G|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000425375|protein_coding|3/14|c.137+12C>G||||||,G|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000425375|protein_coding|2/14|c.137+12C>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000411850|protein_coding|2/14|c.137+12C>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000608749|protein_coding|2/4|c.38+12C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000447733|protein_coding|2/14|c.38+12C>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000608674|protein_coding|2/4|c.38+12C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000456128|protein_coding|2/9|c.137+12C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000449058|protein_coding|2/14|c.137+12C>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000425375|protein_coding|2/13|c.137+12C>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|2/16|n.137+12C>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000487670|retained_intron|2/2|n.195+12C>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000439512|nonsense_mediated_decay|2/6|n.137+12C>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|1/13|n.53-3986C>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000395736|nonsense_mediated_decay|2/5|n.137+12C>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000449508|nonsense_mediated_decay|2/4|n.137+12C>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000436462|protein_coding|2/13|c.73+12C>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|2/16|c.-171+12C>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000443206|protein_coding|2/5|c.38+12C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000465529|retained_intron|2/2|n.212C>G|||||| 22 35714004 . C T . . ANN=T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000411850|protein_coding|3/15|c.137+50C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000411850|protein_coding|5/15|c.137+50C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000411850|protein_coding|2/15|c.137+50C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000411850|protein_coding|4/15|c.137+50C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000411850|protein_coding|3/15|c.137+50C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000411850|protein_coding|2/15|c.137+50C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000447733|protein_coding|3/15|c.38+50C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000447733|protein_coding|2/15|c.38+50C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000449058|protein_coding|3/15|c.137+50C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000449058|protein_coding|5/15|c.137+50C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000449058|protein_coding|2/15|c.137+50C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000449058|protein_coding|4/15|c.137+50C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000449058|protein_coding|3/15|c.137+50C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000449058|protein_coding|2/15|c.137+50C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000425375|protein_coding|3/14|c.137+50C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000425375|protein_coding|2/14|c.137+50C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000411850|protein_coding|2/14|c.137+50C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000608749|protein_coding|2/4|c.38+50C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000447733|protein_coding|2/14|c.38+50C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000608674|protein_coding|2/4|c.38+50C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000456128|protein_coding|2/9|c.137+50C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000449058|protein_coding|2/14|c.137+50C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000425375|protein_coding|2/13|c.137+50C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|2/16|n.137+50C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000487670|retained_intron|2/2|n.195+50C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000439512|nonsense_mediated_decay|2/6|n.137+50C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|1/13|n.53-3948C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000395736|nonsense_mediated_decay|2/5|n.137+50C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000449508|nonsense_mediated_decay|2/4|n.137+50C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000436462|protein_coding|2/13|c.73+50C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|2/16|c.-171+50C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000443206|protein_coding|2/5|c.38+50C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000465529|retained_intron|2/2|n.250C>T|||||| 22 35717915 . C G . . ANN=G|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000411850|protein_coding|3/15|c.138-37C>G||||||,G|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000411850|protein_coding|5/15|c.138-37C>G||||||,G|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000411850|protein_coding|2/15|c.138-37C>G||||||,G|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000411850|protein_coding|4/15|c.138-37C>G||||||,G|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000411850|protein_coding|3/15|c.138-37C>G||||||,G|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000411850|protein_coding|2/15|c.138-37C>G||||||,G|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000447733|protein_coding|3/15|c.39-37C>G||||||,G|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000447733|protein_coding|2/15|c.39-37C>G||||||,G|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000449058|protein_coding|3/15|c.138-37C>G||||||,G|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000449058|protein_coding|5/15|c.138-37C>G||||||,G|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000449058|protein_coding|2/15|c.138-37C>G||||||,G|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000449058|protein_coding|4/15|c.138-37C>G||||||,G|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000449058|protein_coding|3/15|c.138-37C>G||||||,G|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000449058|protein_coding|2/15|c.138-37C>G||||||,G|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000425375|protein_coding|3/14|c.138-37C>G||||||,G|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000425375|protein_coding|2/14|c.138-37C>G||||||,G|upstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000497448|retained_intron||n.-1C>G|||||1418|,G|upstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000491987|retained_intron||n.-1C>G|||||1946|,G|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000465529|retained_intron||n.*555C>G|||||3606|,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000411850|protein_coding|2/14|c.138-37C>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000608749|protein_coding|2/4|c.39-37C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000447733|protein_coding|2/14|c.39-37C>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000608674|protein_coding|2/4|c.39-37C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000456128|protein_coding|2/9|c.138-37C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000449058|protein_coding|2/14|c.138-37C>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000425375|protein_coding|2/13|c.138-37C>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|3/16|n.*34-37C>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000487670|retained_intron|2/2|n.196-37C>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000439512|nonsense_mediated_decay|2/6|n.138-37C>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|1/13|n.53-37C>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000395736|nonsense_mediated_decay|2/5|n.138-37C>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000449508|nonsense_mediated_decay|2/4|n.138-1077C>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000436462|protein_coding|2/13|c.74-1077C>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|3/16|c.-64-37C>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000443206|protein_coding|2/5|c.39-37C>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 35717937 . T C . . ANN=C|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000411850|protein_coding|3/15|c.138-15T>C||||||,C|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000411850|protein_coding|5/15|c.138-15T>C||||||,C|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000411850|protein_coding|2/15|c.138-15T>C||||||,C|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000411850|protein_coding|4/15|c.138-15T>C||||||,C|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000411850|protein_coding|3/15|c.138-15T>C||||||,C|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000411850|protein_coding|2/15|c.138-15T>C||||||,C|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000447733|protein_coding|3/15|c.39-15T>C||||||,C|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000447733|protein_coding|2/15|c.39-15T>C||||||,C|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000449058|protein_coding|3/15|c.138-15T>C||||||,C|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000449058|protein_coding|5/15|c.138-15T>C||||||,C|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000449058|protein_coding|2/15|c.138-15T>C||||||,C|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000449058|protein_coding|4/15|c.138-15T>C||||||,C|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000449058|protein_coding|3/15|c.138-15T>C||||||,C|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000449058|protein_coding|2/15|c.138-15T>C||||||,C|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000425375|protein_coding|3/14|c.138-15T>C||||||,C|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000425375|protein_coding|2/14|c.138-15T>C||||||,C|upstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000497448|retained_intron||n.-1T>C|||||1396|,C|upstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000491987|retained_intron||n.-1T>C|||||1924|,C|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000465529|retained_intron||n.*555T>C|||||3628|,C|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000411850|protein_coding|2/14|c.138-15T>C||||||,C|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000608749|protein_coding|2/4|c.39-15T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000447733|protein_coding|2/14|c.39-15T>C||||||,C|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000608674|protein_coding|2/4|c.39-15T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000456128|protein_coding|2/9|c.138-15T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000449058|protein_coding|2/14|c.138-15T>C||||||,C|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000425375|protein_coding|2/13|c.138-15T>C||||||,C|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|3/16|n.*34-15T>C||||||,C|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000487670|retained_intron|2/2|n.196-15T>C||||||,C|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000439512|nonsense_mediated_decay|2/6|n.138-15T>C||||||,C|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|1/13|n.53-15T>C||||||,C|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000395736|nonsense_mediated_decay|2/5|n.138-15T>C||||||,C|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000449508|nonsense_mediated_decay|2/4|n.138-1055T>C||||||,C|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000436462|protein_coding|2/13|c.74-1055T>C||||||,C|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|3/16|c.-64-15T>C||||||,C|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000443206|protein_coding|2/5|c.39-15T>C||||||WARNING_TRANSCRIPT_INCOMPLETE 22 35719010 . C T . . ANN=T|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000436462|protein_coding|3/14|c.92C>T|p.Ser31Leu|191/1953|92/1365|31/454||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000411850|protein_coding|3/15|c.217-11C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000411850|protein_coding|5/15|c.217-11C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000411850|protein_coding|2/15|c.217-11C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000411850|protein_coding|4/15|c.217-11C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000411850|protein_coding|3/15|c.217-11C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000411850|protein_coding|4/15|c.217-11C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000447733|protein_coding|3/15|c.118-11C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000447733|protein_coding|4/15|c.118-11C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000449058|protein_coding|3/15|c.217-11C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000449058|protein_coding|5/15|c.217-11C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000449058|protein_coding|2/15|c.217-11C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000449058|protein_coding|4/15|c.217-11C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000449058|protein_coding|3/15|c.217-11C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000449058|protein_coding|4/15|c.217-11C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000425375|protein_coding|3/14|c.217-11C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000425375|protein_coding|4/14|c.217-11C>T||||||,T|upstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000497448|retained_intron||n.-1C>T|||||323|,T|upstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000491987|retained_intron||n.-1C>T|||||851|,T|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000465529|retained_intron||n.*555C>T|||||4701|,T|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000487670|retained_intron||n.*849C>T|||||405|,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000411850|protein_coding|3/14|c.217-11C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000608749|protein_coding|3/4|c.118-11C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000447733|protein_coding|3/14|c.118-11C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000608674|protein_coding|3/4|c.118-11C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000456128|protein_coding|3/9|c.199-11C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000449058|protein_coding|3/14|c.217-11C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000425375|protein_coding|3/13|c.217-11C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|4/16|n.*113-11C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|2/13|n.*54-11C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000395736|nonsense_mediated_decay|3/5|n.217-11C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|4/16|c.16-11C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000443206|protein_coding|3/5|c.118-11C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000439512|nonsense_mediated_decay|4/7|n.235C>T||||||,T|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000449508|nonsense_mediated_decay|3/5|n.156C>T|||||| 22 35719063 . G A . . ANN=A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000411850|protein_coding|4/15|c.259G>A|p.Val87Met|384/2390|259/1482|87/493||,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000608749|protein_coding|4/5|c.160G>A|p.Val54Met|311/553|160/402|54/133||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000447733|protein_coding|4/15|c.160G>A|p.Val54Met|311/2317|160/1383|54/460||,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000608674|protein_coding|4/5|c.160G>A|p.Val54Met|326/541|160/375|54/124||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000456128|protein_coding|4/10|c.241G>A|p.Val81Met|370/1133|241/1004|81/333||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000449058|protein_coding|4/15|c.259G>A|p.Val87Met|384/2382|259/1479|87/492||,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000425375|protein_coding|4/14|c.259G>A|p.Val87Met|384/2252|259/1344|87/447||,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000436462|protein_coding|3/14|c.145G>A|p.Val49Met|244/1953|145/1365|49/454||,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|5/17|c.58G>A|p.Val20Met|400/2583|58/798|20/265||,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000443206|protein_coding|4/6|c.160G>A|p.Val54Met|273/567|160/454|54/150||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000411850|protein_coding|3/15|c.259G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000411850|protein_coding|5/15|c.259G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000411850|protein_coding|2/15|c.259G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000411850|protein_coding|4/15|c.259G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000411850|protein_coding|4/15|c.259G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000447733|protein_coding|4/15|c.160G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000449058|protein_coding|3/15|c.259G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000449058|protein_coding|5/15|c.259G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000449058|protein_coding|2/15|c.259G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000449058|protein_coding|4/15|c.259G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000449058|protein_coding|4/15|c.259G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000425375|protein_coding|4/14|c.259G>A||||||,A|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|5/17|n.*155G>A|||||1256|,A|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000439512|nonsense_mediated_decay|4/7|n.*36G>A|||||36|,A|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|3/14|n.*96G>A|||||1086|,A|upstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000497448|retained_intron||n.-1G>A|||||270|,A|upstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000491987|retained_intron||n.-1G>A|||||798|,A|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000465529|retained_intron||n.*555G>A|||||4754|,A|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000487670|retained_intron||n.*849G>A|||||458|,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|5/17|n.*155G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000439512|nonsense_mediated_decay|4/7|n.*36G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|3/14|n.*96G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000395736|nonsense_mediated_decay|4/6|n.259G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000449508|nonsense_mediated_decay|3/5|n.209G>A|||||| 22 35719515 . G A . . ANN=A|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000411850|protein_coding|5/15|c.393G>A|p.Ser131Ser|518/2390|393/1482|131/493||,A|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000608749|protein_coding|5/5|c.294G>A|p.Ser98Ser|445/553|294/402|98/133||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000447733|protein_coding|5/15|c.294G>A|p.Ser98Ser|445/2317|294/1383|98/460||,A|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000608674|protein_coding|5/5|c.294G>A|p.Ser98Ser|460/541|294/375|98/124||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000456128|protein_coding|5/10|c.375G>A|p.Ser125Ser|504/1133|375/1004|125/333||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000449058|protein_coding|5/15|c.393G>A|p.Ser131Ser|518/2382|393/1479|131/492||,A|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000436462|protein_coding|4/14|c.279G>A|p.Ser93Ser|378/1953|279/1365|93/454||,A|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|6/17|c.192G>A|p.Ser64Ser|534/2583|192/798|64/265||,A|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000443206|protein_coding|5/6|c.294G>A|p.Ser98Ser|407/567|294/454|98/150||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000411850|protein_coding|3/15|c.393G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000411850|protein_coding|5/15|c.393G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000411850|protein_coding|2/15|c.393G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000411850|protein_coding|4/15|c.393G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000449058|protein_coding|3/15|c.393G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000449058|protein_coding|5/15|c.393G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000449058|protein_coding|2/15|c.393G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000449058|protein_coding|4/15|c.393G>A||||||,A|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|6/17|n.*289G>A|||||1708|,A|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000439512|nonsense_mediated_decay|5/7|n.*170G>A|||||488|,A|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|4/14|n.*230G>A|||||1538|,A|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000449508|nonsense_mediated_decay|4/5|n.*49G>A|||||367|,A|upstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000491987|retained_intron||n.-1G>A|||||346|,A|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000487670|retained_intron||n.*849G>A|||||910|,A|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000425375|protein_coding|4/13|c.367-246G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|6/17|n.*289G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000439512|nonsense_mediated_decay|5/7|n.*170G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|4/14|n.*230G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000395736|nonsense_mediated_decay|5/6|n.370G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000449508|nonsense_mediated_decay|4/5|n.*49G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000497448|retained_intron|1/2|n.183G>A|||||| 22 35719663 . C G . . ANN=G|upstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000491987|retained_intron||n.-1C>G|||||198|,G|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000608749|protein_coding||c.*553C>G|||||40|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000608674|protein_coding||c.*541C>G|||||67|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000487670|retained_intron||n.*849C>G|||||1058|,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000411850|protein_coding|5/14|c.501+40C>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000447733|protein_coding|5/14|c.402+40C>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000456128|protein_coding|5/9|c.483+40C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000449058|protein_coding|5/14|c.501+40C>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000425375|protein_coding|4/13|c.367-98C>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|6/16|n.*397+40C>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000439512|nonsense_mediated_decay|5/6|n.*278+40C>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|4/13|n.*338+40C>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000395736|nonsense_mediated_decay|5/5|n.*76+40C>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000449508|nonsense_mediated_decay|4/4|n.*157+40C>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000436462|protein_coding|4/13|c.387+40C>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|6/16|c.300+40C>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000443206|protein_coding|5/5|c.402+40C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000497448|retained_intron|1/1|n.291+40C>G|||||| 22 35719725 . C T . . ANN=T|upstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000491987|retained_intron||n.-1C>T|||||136|,T|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000608749|protein_coding||c.*553C>T|||||102|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000608674|protein_coding||c.*541C>T|||||129|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000487670|retained_intron||n.*849C>T|||||1120|,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000411850|protein_coding|5/14|c.502-36C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000447733|protein_coding|5/14|c.403-36C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000456128|protein_coding|5/9|c.484-36C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000449058|protein_coding|5/14|c.502-36C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000425375|protein_coding|4/13|c.367-36C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|6/16|n.*398-36C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000439512|nonsense_mediated_decay|5/6|n.*279-36C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|4/13|n.*339-36C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000395736|nonsense_mediated_decay|5/5|n.*77-36C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000449508|nonsense_mediated_decay|4/4|n.*158-36C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000436462|protein_coding|4/13|c.388-36C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|6/16|c.301-36C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000443206|protein_coding|5/5|c.403-36C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000497448|retained_intron|1/1|n.292-36C>T|||||| 22 35719860 . C G . . ANN=G|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000411850|protein_coding|6/15|c.601C>G|p.Pro201Ala|726/2390|601/1482|201/493||,G|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000447733|protein_coding|6/15|c.502C>G|p.Pro168Ala|653/2317|502/1383|168/460||,G|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000456128|protein_coding|6/10|c.583C>G|p.Pro195Ala|712/1133|583/1004|195/333||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000449058|protein_coding|6/15|c.601C>G|p.Pro201Ala|726/2382|601/1479|201/492||,G|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000425375|protein_coding|5/14|c.466C>G|p.Pro156Ala|591/2252|466/1344|156/447||,G|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000436462|protein_coding|5/14|c.487C>G|p.Pro163Ala|586/1953|487/1365|163/454||,G|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|7/17|c.400C>G|p.Pro134Ala|742/2583|400/798|134/265||,G|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|7/17|n.*497C>G|||||2053|,G|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000439512|nonsense_mediated_decay|6/7|n.*378C>G|||||833|,G|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|5/14|n.*438C>G|||||1883|,G|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000449508|nonsense_mediated_decay|5/5|n.*257C>G|||||712|,G|upstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000491987|retained_intron||n.-1C>G|||||1|,G|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000608749|protein_coding||c.*553C>G|||||237|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000608674|protein_coding||c.*541C>G|||||264|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000487670|retained_intron||n.*849C>G|||||1255|,G|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000395736|nonsense_mediated_decay||n.*441C>G|||||57|,G|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000443206|protein_coding||c.*567C>G|||||48|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|7/17|n.*497C>G||||||,G|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000439512|nonsense_mediated_decay|6/7|n.*378C>G||||||,G|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|5/14|n.*438C>G||||||,G|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000449508|nonsense_mediated_decay|5/5|n.*257C>G||||||,G|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000497448|retained_intron|2/2|n.391C>G|||||| 22 35719913 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000411850|protein_coding|6/14|c.648+6C>T||||||,T|splice_region_variant&intron_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000447733|protein_coding|6/14|c.549+6C>T||||||,T|splice_region_variant&intron_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000456128|protein_coding|6/9|c.630+6C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|splice_region_variant&intron_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000449058|protein_coding|6/14|c.648+6C>T||||||,T|splice_region_variant&intron_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000425375|protein_coding|5/13|c.513+6C>T||||||,T|splice_region_variant&intron_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|7/16|n.*544+6C>T||||||,T|splice_region_variant&intron_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000439512|nonsense_mediated_decay|6/6|n.*425+6C>T||||||,T|splice_region_variant&intron_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|5/13|n.*485+6C>T||||||,T|splice_region_variant&intron_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000436462|protein_coding|5/13|c.534+6C>T||||||,T|splice_region_variant&intron_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|7/16|c.447+6C>T||||||,T|splice_region_variant&intron_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000491987|retained_intron|1/6|n.47+6C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000411850|protein_coding|9/15|c.648+6C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000411850|protein_coding|8/15|c.648+6C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000411850|protein_coding|7/15|c.648+6C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000411850|protein_coding|6/15|c.648+6C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000447733|protein_coding|9/15|c.549+6C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000447733|protein_coding|8/15|c.549+6C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000447733|protein_coding|7/15|c.549+6C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000447733|protein_coding|6/15|c.549+6C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000449058|protein_coding|9/15|c.648+6C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000449058|protein_coding|8/15|c.648+6C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000449058|protein_coding|7/15|c.648+6C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000449058|protein_coding|6/15|c.648+6C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000425375|protein_coding|8/14|c.513+6C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000425375|protein_coding|7/14|c.513+6C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000425375|protein_coding|6/14|c.513+6C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000425375|protein_coding|5/14|c.513+6C>T||||||,T|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000608749|protein_coding||c.*553C>T|||||290|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000608674|protein_coding||c.*541C>T|||||317|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000487670|retained_intron||n.*849C>T|||||1308|,T|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000395736|nonsense_mediated_decay||n.*441C>T|||||110|,T|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000449508|nonsense_mediated_decay||n.*329C>T|||||46|,T|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000443206|protein_coding||c.*567C>T|||||101|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000497448|retained_intron||n.*438C>T|||||6| 22 35719954 . A G . . ANN=G|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000411850|protein_coding|9/15|c.648+47A>G||||||,G|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000411850|protein_coding|8/15|c.648+47A>G||||||,G|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000411850|protein_coding|7/15|c.648+47A>G||||||,G|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000411850|protein_coding|6/15|c.648+47A>G||||||,G|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000447733|protein_coding|9/15|c.549+47A>G||||||,G|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000447733|protein_coding|8/15|c.549+47A>G||||||,G|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000447733|protein_coding|7/15|c.549+47A>G||||||,G|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000447733|protein_coding|6/15|c.549+47A>G||||||,G|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000449058|protein_coding|9/15|c.648+47A>G||||||,G|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000449058|protein_coding|8/15|c.648+47A>G||||||,G|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000449058|protein_coding|7/15|c.648+47A>G||||||,G|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000449058|protein_coding|6/15|c.648+47A>G||||||,G|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000425375|protein_coding|8/14|c.513+47A>G||||||,G|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000425375|protein_coding|7/14|c.513+47A>G||||||,G|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000425375|protein_coding|6/14|c.513+47A>G||||||,G|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000425375|protein_coding|5/14|c.513+47A>G||||||,G|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000608749|protein_coding||c.*553A>G|||||331|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000608674|protein_coding||c.*541A>G|||||358|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000487670|retained_intron||n.*849A>G|||||1349|,G|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000395736|nonsense_mediated_decay||n.*441A>G|||||151|,G|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000449508|nonsense_mediated_decay||n.*329A>G|||||87|,G|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000443206|protein_coding||c.*567A>G|||||142|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000497448|retained_intron||n.*438A>G|||||47|,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000411850|protein_coding|6/14|c.648+47A>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000447733|protein_coding|6/14|c.549+47A>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000456128|protein_coding|6/9|c.630+47A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000449058|protein_coding|6/14|c.648+47A>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000425375|protein_coding|5/13|c.513+47A>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|7/16|n.*544+47A>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000439512|nonsense_mediated_decay|6/6|n.*425+47A>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|5/13|n.*485+47A>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000436462|protein_coding|5/13|c.534+47A>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|7/16|c.447+47A>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000491987|retained_intron|1/6|n.47+47A>G|||||| 22 35723245 . G A . . ANN=A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000411850|protein_coding|9/15|c.649-19G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000411850|protein_coding|8/15|c.649-19G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000411850|protein_coding|7/15|c.649-19G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000411850|protein_coding|6/15|c.649-19G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000447733|protein_coding|9/15|c.550-19G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000447733|protein_coding|8/15|c.550-19G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000447733|protein_coding|7/15|c.550-19G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000447733|protein_coding|6/15|c.550-19G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000449058|protein_coding|9/15|c.649-19G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000449058|protein_coding|8/15|c.649-19G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000449058|protein_coding|7/15|c.649-19G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000449058|protein_coding|6/15|c.649-19G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000425375|protein_coding|8/14|c.514-19G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000425375|protein_coding|7/14|c.514-19G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000425375|protein_coding|6/14|c.514-19G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000425375|protein_coding|5/14|c.514-19G>A||||||,A|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000608749|protein_coding||c.*553G>A|||||3622|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000608674|protein_coding||c.*541G>A|||||3649|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000487670|retained_intron||n.*849G>A|||||4640|,A|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000395736|nonsense_mediated_decay||n.*441G>A|||||3442|,A|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000449508|nonsense_mediated_decay||n.*329G>A|||||3378|,A|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000443206|protein_coding||c.*567G>A|||||3433|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000497448|retained_intron||n.*438G>A|||||3338|,A|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000411850|protein_coding|6/14|c.649-19G>A||||||,A|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000447733|protein_coding|6/14|c.550-19G>A||||||,A|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000456128|protein_coding|6/9|c.631-19G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000449058|protein_coding|6/14|c.649-19G>A||||||,A|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000425375|protein_coding|5/13|c.514-19G>A||||||,A|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|7/16|n.*545-19G>A||||||,A|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000439512|nonsense_mediated_decay|6/6|n.*426-19G>A||||||,A|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|5/13|n.*486-19G>A||||||,A|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000436462|protein_coding|5/13|c.535-19G>A||||||,A|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|7/16|c.448-19G>A||||||,A|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000491987|retained_intron|1/6|n.48-19G>A|||||| 22 35723320 . G A . . ANN=A|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000411850|protein_coding|7/15|c.705G>A|p.Ser235Ser|830/2390|705/1482|235/493||,A|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000447733|protein_coding|7/15|c.606G>A|p.Ser202Ser|757/2317|606/1383|202/460||,A|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000456128|protein_coding|7/10|c.687G>A|p.Ser229Ser|816/1133|687/1004|229/333||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000449058|protein_coding|7/15|c.705G>A|p.Ser235Ser|830/2382|705/1479|235/492||,A|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000425375|protein_coding|6/14|c.570G>A|p.Ser190Ser|695/2252|570/1344|190/447||,A|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000436462|protein_coding|6/14|c.591G>A|p.Ser197Ser|690/1953|591/1365|197/454||,A|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|8/17|c.504G>A|p.Ser168Ser|846/2583|504/798|168/265||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000411850|protein_coding|9/15|c.705G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000411850|protein_coding|8/15|c.705G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000411850|protein_coding|7/15|c.705G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000411850|protein_coding|6/15|c.705G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000411850|protein_coding|7/15|c.705G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000447733|protein_coding|9/15|c.606G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000447733|protein_coding|8/15|c.606G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000447733|protein_coding|7/15|c.606G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000447733|protein_coding|6/15|c.606G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000447733|protein_coding|7/15|c.606G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000449058|protein_coding|9/15|c.705G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000449058|protein_coding|8/15|c.705G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000449058|protein_coding|7/15|c.705G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000449058|protein_coding|6/15|c.705G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000449058|protein_coding|7/15|c.705G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000425375|protein_coding|8/14|c.570G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000425375|protein_coding|7/14|c.570G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000425375|protein_coding|6/14|c.570G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000425375|protein_coding|5/14|c.570G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000425375|protein_coding|6/14|c.570G>A||||||,A|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|8/17|n.*601G>A|||||5513|,A|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000439512|nonsense_mediated_decay|7/7|n.*482G>A|||||4293|,A|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|6/14|n.*542G>A|||||5343|,A|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000608749|protein_coding||c.*553G>A|||||3697|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000608674|protein_coding||c.*541G>A|||||3724|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000487670|retained_intron||n.*849G>A|||||4715|,A|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000395736|nonsense_mediated_decay||n.*441G>A|||||3517|,A|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000449508|nonsense_mediated_decay||n.*329G>A|||||3453|,A|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000443206|protein_coding||c.*567G>A|||||3508|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000497448|retained_intron||n.*438G>A|||||3413|,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|8/17|n.*601G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000439512|nonsense_mediated_decay|7/7|n.*482G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|6/14|n.*542G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000491987|retained_intron|2/7|n.104G>A|||||| 22 35723351 . G T . . ANN=T|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000411850|protein_coding|7/15|c.736G>T|p.Ala246Ser|861/2390|736/1482|246/493||,T|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000447733|protein_coding|7/15|c.637G>T|p.Ala213Ser|788/2317|637/1383|213/460||,T|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000456128|protein_coding|7/10|c.718G>T|p.Ala240Ser|847/1133|718/1004|240/333||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000449058|protein_coding|7/15|c.736G>T|p.Ala246Ser|861/2382|736/1479|246/492||,T|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000425375|protein_coding|6/14|c.601G>T|p.Ala201Ser|726/2252|601/1344|201/447||,T|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000436462|protein_coding|6/14|c.622G>T|p.Ala208Ser|721/1953|622/1365|208/454||,T|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|8/17|c.535G>T|p.Ala179Ser|877/2583|535/798|179/265||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000411850|protein_coding|9/15|c.736G>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000411850|protein_coding|8/15|c.736G>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000411850|protein_coding|7/15|c.736G>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000411850|protein_coding|6/15|c.736G>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000447733|protein_coding|9/15|c.637G>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000447733|protein_coding|8/15|c.637G>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000447733|protein_coding|7/15|c.637G>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000447733|protein_coding|6/15|c.637G>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000449058|protein_coding|9/15|c.736G>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000449058|protein_coding|8/15|c.736G>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000449058|protein_coding|7/15|c.736G>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000449058|protein_coding|6/15|c.736G>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000425375|protein_coding|8/14|c.601G>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000425375|protein_coding|7/14|c.601G>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000425375|protein_coding|6/14|c.601G>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000425375|protein_coding|5/14|c.601G>T||||||,T|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|8/17|n.*632G>T|||||5544|,T|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|6/14|n.*573G>T|||||5374|,T|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000608749|protein_coding||c.*553G>T|||||3728|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000608674|protein_coding||c.*541G>T|||||3755|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000487670|retained_intron||n.*849G>T|||||4746|,T|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000439512|nonsense_mediated_decay||n.*307G>T|||||20|,T|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000395736|nonsense_mediated_decay||n.*441G>T|||||3548|,T|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000449508|nonsense_mediated_decay||n.*329G>T|||||3484|,T|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000443206|protein_coding||c.*567G>T|||||3539|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000497448|retained_intron||n.*438G>T|||||3444|,T|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|8/17|n.*632G>T||||||,T|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|6/14|n.*573G>T||||||,T|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000491987|retained_intron|2/7|n.135G>T|||||| 22 35726354 . G A . . ANN=A|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000411850|protein_coding|8/15|c.780G>A|p.Thr260Thr|905/2390|780/1482|260/493||,A|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000447733|protein_coding|8/15|c.681G>A|p.Thr227Thr|832/2317|681/1383|227/460||,A|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000456128|protein_coding|8/10|c.762G>A|p.Thr254Thr|891/1133|762/1004|254/333||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000449058|protein_coding|8/15|c.780G>A|p.Thr260Thr|905/2382|780/1479|260/492||,A|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000425375|protein_coding|7/14|c.645G>A|p.Thr215Thr|770/2252|645/1344|215/447||,A|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000436462|protein_coding|7/14|c.666G>A|p.Thr222Thr|765/1953|666/1365|222/454||,A|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|9/17|c.579G>A|p.Thr193Thr|921/2583|579/798|193/265||,A|TF_binding_site_variant|LOW|||Cmyc|MA0147.1|||||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000411850|protein_coding|9/15|c.780G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000411850|protein_coding|8/15|c.780G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000411850|protein_coding|7/15|c.780G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000411850|protein_coding|6/15|c.780G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000411850|protein_coding|8/15|c.780G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000411850|protein_coding|7/15|c.780G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000447733|protein_coding|9/15|c.681G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000447733|protein_coding|8/15|c.681G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000447733|protein_coding|7/15|c.681G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000447733|protein_coding|6/15|c.681G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000447733|protein_coding|8/15|c.681G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000447733|protein_coding|7/15|c.681G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000449058|protein_coding|9/15|c.780G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000449058|protein_coding|8/15|c.780G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000449058|protein_coding|7/15|c.780G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000449058|protein_coding|6/15|c.780G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000449058|protein_coding|8/15|c.780G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000449058|protein_coding|7/15|c.780G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000425375|protein_coding|8/14|c.645G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000425375|protein_coding|7/14|c.645G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000425375|protein_coding|6/14|c.645G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000425375|protein_coding|5/14|c.645G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000425375|protein_coding|7/14|c.645G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000425375|protein_coding|6/14|c.645G>A||||||,A|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|9/17|n.*676G>A|||||8547|,A|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|7/14|n.*617G>A|||||8377|,A|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000439512|nonsense_mediated_decay||n.*307G>A|||||3023|,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|9/17|n.*676G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|7/14|n.*617G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000491987|retained_intron|3/7|n.179G>A|||||| 22 35726376 . G A . . ANN=A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000411850|protein_coding|8/15|c.802G>A|p.Val268Ile|927/2390|802/1482|268/493||,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000447733|protein_coding|8/15|c.703G>A|p.Val235Ile|854/2317|703/1383|235/460||,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000456128|protein_coding|8/10|c.784G>A|p.Val262Ile|913/1133|784/1004|262/333||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000449058|protein_coding|8/15|c.802G>A|p.Val268Ile|927/2382|802/1479|268/492||,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000425375|protein_coding|7/14|c.667G>A|p.Val223Ile|792/2252|667/1344|223/447||,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000436462|protein_coding|7/14|c.688G>A|p.Val230Ile|787/1953|688/1365|230/454||,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|9/17|c.601G>A|p.Val201Ile|943/2583|601/798|201/265||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000411850|protein_coding|9/15|c.802G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000411850|protein_coding|8/15|c.802G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000411850|protein_coding|7/15|c.802G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000411850|protein_coding|6/15|c.802G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000411850|protein_coding|8/15|c.802G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000411850|protein_coding|7/15|c.802G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000447733|protein_coding|9/15|c.703G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000447733|protein_coding|8/15|c.703G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000447733|protein_coding|7/15|c.703G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000447733|protein_coding|6/15|c.703G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000447733|protein_coding|8/15|c.703G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000447733|protein_coding|7/15|c.703G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000449058|protein_coding|9/15|c.802G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000449058|protein_coding|8/15|c.802G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000449058|protein_coding|7/15|c.802G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000449058|protein_coding|6/15|c.802G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000449058|protein_coding|8/15|c.802G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000449058|protein_coding|7/15|c.802G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000425375|protein_coding|8/14|c.667G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000425375|protein_coding|7/14|c.667G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000425375|protein_coding|6/14|c.667G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000425375|protein_coding|5/14|c.667G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000425375|protein_coding|7/14|c.667G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000425375|protein_coding|6/14|c.667G>A||||||,A|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|9/17|n.*698G>A|||||8569|,A|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|7/14|n.*639G>A|||||8399|,A|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000439512|nonsense_mediated_decay||n.*307G>A|||||3045|,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|9/17|n.*698G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|7/14|n.*639G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000491987|retained_intron|3/7|n.201G>A|||||| 22 35726464 . G A . . ANN=A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000411850|protein_coding|8/15|c.890G>A|p.Arg297His|1015/2390|890/1482|297/493||,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000447733|protein_coding|8/15|c.791G>A|p.Arg264His|942/2317|791/1383|264/460||,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000456128|protein_coding|8/10|c.872G>A|p.Arg291His|1001/1133|872/1004|291/333||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000449058|protein_coding|8/15|c.890G>A|p.Arg297His|1015/2382|890/1479|297/492||,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000425375|protein_coding|7/14|c.755G>A|p.Arg252His|880/2252|755/1344|252/447||,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000436462|protein_coding|7/14|c.776G>A|p.Arg259His|875/1953|776/1365|259/454||,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|9/17|c.689G>A|p.Arg230His|1031/2583|689/798|230/265||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000411850|protein_coding|9/15|c.890G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000411850|protein_coding|8/15|c.890G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000411850|protein_coding|7/15|c.890G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000411850|protein_coding|6/15|c.890G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000411850|protein_coding|9/15|c.890G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000411850|protein_coding|8/15|c.890G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000447733|protein_coding|9/15|c.791G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000447733|protein_coding|8/15|c.791G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000447733|protein_coding|7/15|c.791G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000447733|protein_coding|6/15|c.791G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000447733|protein_coding|9/15|c.791G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000447733|protein_coding|8/15|c.791G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000449058|protein_coding|9/15|c.890G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000449058|protein_coding|8/15|c.890G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000449058|protein_coding|7/15|c.890G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000449058|protein_coding|6/15|c.890G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000449058|protein_coding|9/15|c.890G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000449058|protein_coding|8/15|c.890G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000425375|protein_coding|8/14|c.755G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000425375|protein_coding|7/14|c.755G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000425375|protein_coding|6/14|c.755G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000425375|protein_coding|5/14|c.755G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000425375|protein_coding|8/14|c.755G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000425375|protein_coding|7/14|c.755G>A||||||,A|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|9/17|n.*786G>A|||||8657|,A|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|7/14|n.*727G>A|||||8487|,A|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000439512|nonsense_mediated_decay||n.*307G>A|||||3133|,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|9/17|n.*786G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|7/14|n.*727G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000491987|retained_intron|3/7|n.289G>A|||||| 22 35728953 . C T . . ANN=T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000411850|protein_coding|9/15|c.900-21C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000411850|protein_coding|8/15|c.900-21C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000411850|protein_coding|7/15|c.900-21C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000411850|protein_coding|6/15|c.900-21C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000411850|protein_coding|9/15|c.900-21C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000411850|protein_coding|8/15|c.900-21C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000447733|protein_coding|9/15|c.801-21C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000447733|protein_coding|8/15|c.801-21C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000447733|protein_coding|7/15|c.801-21C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000447733|protein_coding|6/15|c.801-21C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000447733|protein_coding|9/15|c.801-21C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000447733|protein_coding|8/15|c.801-21C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000449058|protein_coding|9/15|c.900-21C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000449058|protein_coding|8/15|c.900-21C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000449058|protein_coding|7/15|c.900-21C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000449058|protein_coding|6/15|c.900-21C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000449058|protein_coding|9/15|c.900-21C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000449058|protein_coding|8/15|c.900-21C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000425375|protein_coding|8/14|c.765-21C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000425375|protein_coding|7/14|c.765-21C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000425375|protein_coding|6/14|c.765-21C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000425375|protein_coding|5/14|c.765-21C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000425375|protein_coding|8/14|c.765-21C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000425375|protein_coding|7/14|c.765-21C>T||||||,T|upstream_gene_variant|MODIFIER|MIR3909|ENSG00000266320|transcript|ENST00000579518|miRNA||n.-1C>T|||||2680|,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000411850|protein_coding|8/14|c.900-21C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000447733|protein_coding|8/14|c.801-21C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000456128|protein_coding|8/9|c.882-21C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000449058|protein_coding|8/14|c.900-21C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000425375|protein_coding|7/13|c.765-21C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|10/16|n.*996-21C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|7/13|n.*737-21C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000436462|protein_coding|7/13|c.786-21C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|10/16|c.*101-21C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000491987|retained_intron|3/6|n.299-21C>T|||||| 22 35729014 . GTCT G . . ANN=|upstream_gene_variant|MODIFIER|MIR3909|ENSG00000266320|transcript|ENST00000579518|miRNA||n.-1_-1delTCT|||||2618|,|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000411850|protein_coding|9/14|c.933+12_933+14delCTT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000447733|protein_coding|9/14|c.834+12_834+14delCTT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000456128|protein_coding|9/9|c.915+12_915+14delCTT||||||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000449058|protein_coding|9/14|c.933+12_933+14delCTT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000425375|protein_coding|8/13|c.798+12_798+14delCTT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|11/16|n.*1029+12_*1029+14delCTT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|8/13|n.*770+12_*770+14delCTT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000436462|protein_coding|8/13|c.819+12_819+14delCTT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|11/16|c.*134+12_*134+14delCTT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000491987|retained_intron|4/6|n.332+12_332+14delCTT||||||INFO_REALIGN_3_PRIME 22 35730403 . G A . . ANN=A|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000411850|protein_coding|11/15|c.1110G>A|p.Ala370Ala|1235/2390|1110/1482|370/493||,A|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000447733|protein_coding|11/15|c.1011G>A|p.Ala337Ala|1162/2317|1011/1383|337/460||,A|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000449058|protein_coding|11/15|c.1110G>A|p.Ala370Ala|1235/2382|1110/1479|370/492||,A|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000425375|protein_coding|10/14|c.975G>A|p.Ala325Ala|1100/2252|975/1344|325/447||,A|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000436462|protein_coding|10/14|c.996G>A|p.Ala332Ala|1095/1953|996/1365|332/454||,A|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|13/17|n.*1206G>A|||||12596|,A|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|10/14|n.*947G>A|||||12426|,A|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|13/17|c.*311G>A|||||3015|,A|upstream_gene_variant|MODIFIER|MIR3909|ENSG00000266320|transcript|ENST00000579518|miRNA||n.-1G>A|||||1230|,A|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000456128|protein_coding||c.*1133G>A|||||918|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|13/17|n.*1206G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|10/14|n.*947G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000491987|retained_intron|6/7|n.738G>A|||||| 22 35730426 . C T . . ANN=T|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000411850|protein_coding|11/15|c.1133C>T|p.Ala378Val|1258/2390|1133/1482|378/493||,T|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000447733|protein_coding|11/15|c.1034C>T|p.Ala345Val|1185/2317|1034/1383|345/460||,T|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000449058|protein_coding|11/15|c.1133C>T|p.Ala378Val|1258/2382|1133/1479|378/492||,T|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000425375|protein_coding|10/14|c.998C>T|p.Ala333Val|1123/2252|998/1344|333/447||,T|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000436462|protein_coding|10/14|c.1019C>T|p.Ala340Val|1118/1953|1019/1365|340/454||,T|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|13/17|n.*1229C>T|||||12619|,T|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|10/14|n.*970C>T|||||12449|,T|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|13/17|c.*334C>T|||||3038|,T|upstream_gene_variant|MODIFIER|MIR3909|ENSG00000266320|transcript|ENST00000579518|miRNA||n.-1C>T|||||1207|,T|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000456128|protein_coding||c.*1133C>T|||||941|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|13/17|n.*1229C>T||||||,T|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|10/14|n.*970C>T||||||,T|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000491987|retained_intron|6/7|n.761C>T|||||| 22 35730489 . C T . . ANN=T|upstream_gene_variant|MODIFIER|MIR3909|ENSG00000266320|transcript|ENST00000579518|miRNA||n.-1C>T|||||1144|,T|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000456128|protein_coding||c.*1133C>T|||||1004|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000411850|protein_coding|11/14|c.1148+48C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000447733|protein_coding|11/14|c.1049+48C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000449058|protein_coding|11/14|c.1148+48C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000425375|protein_coding|10/13|c.1013+48C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|13/16|n.*1244+48C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|10/13|n.*985+48C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000436462|protein_coding|10/13|c.1034+48C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|13/16|c.*349+48C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000491987|retained_intron|6/6|n.776+48C>T|||||| 22 35734666 . G C . . ANN=C|downstream_gene_variant|MODIFIER|MIR3909|ENSG00000266320|transcript|ENST00000579518|miRNA||n.*119G>C|||||2915|,C|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000411850|protein_coding|11/14|c.1149-40G>C||||||,C|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000447733|protein_coding|11/14|c.1050-40G>C||||||,C|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000449058|protein_coding|11/14|c.1149-40G>C||||||,C|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000425375|protein_coding|10/13|c.1014-40G>C||||||,C|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|13/16|n.*1245-40G>C||||||,C|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|10/13|n.*986-40G>C||||||,C|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000436462|protein_coding|10/13|c.1035-40G>C||||||,C|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|13/16|c.*350-40G>C||||||,C|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000491987|retained_intron|6/6|n.777-40G>C|||||| 22 35734736 . C T . . ANN=T|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000411850|protein_coding|12/15|c.1179C>T|p.Asp393Asp|1304/2390|1179/1482|393/493||,T|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000447733|protein_coding|12/15|c.1080C>T|p.Asp360Asp|1231/2317|1080/1383|360/460||,T|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000449058|protein_coding|12/15|c.1179C>T|p.Asp393Asp|1304/2382|1179/1479|393/492||,T|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000425375|protein_coding|11/14|c.1044C>T|p.Asp348Asp|1169/2252|1044/1344|348/447||,T|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000436462|protein_coding|11/14|c.1065C>T|p.Asp355Asp|1164/1953|1065/1365|355/454||,T|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|14/17|n.*1275C>T|||||16929|,T|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|11/14|n.*1016C>T|||||16759|,T|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|14/17|c.*380C>T|||||7348|,T|downstream_gene_variant|MODIFIER|MIR3909|ENSG00000266320|transcript|ENST00000579518|miRNA||n.*119C>T|||||2985|,T|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|14/17|n.*1275C>T||||||,T|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|11/14|n.*1016C>T||||||,T|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000491987|retained_intron|7/7|n.807C>T|||||| 22 35734737 . G A . . ANN=A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000411850|protein_coding|12/15|c.1180G>A|p.Gly394Ser|1305/2390|1180/1482|394/493||,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000447733|protein_coding|12/15|c.1081G>A|p.Gly361Ser|1232/2317|1081/1383|361/460||,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000449058|protein_coding|12/15|c.1180G>A|p.Gly394Ser|1305/2382|1180/1479|394/492||,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000425375|protein_coding|11/14|c.1045G>A|p.Gly349Ser|1170/2252|1045/1344|349/447||,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000436462|protein_coding|11/14|c.1066G>A|p.Gly356Ser|1165/1953|1066/1365|356/454||,A|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|14/17|n.*1276G>A|||||16930|,A|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|11/14|n.*1017G>A|||||16760|,A|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|14/17|c.*381G>A|||||7349|,A|downstream_gene_variant|MODIFIER|MIR3909|ENSG00000266320|transcript|ENST00000579518|miRNA||n.*119G>A|||||2986|,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|14/17|n.*1276G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|11/14|n.*1017G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000491987|retained_intron|7/7|n.808G>A|||||| 22 35741733 . G C . . ANN=C|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000411850|protein_coding|13/15|c.1240G>C|p.Ala414Pro|1365/2390|1240/1482|414/493||,C|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000447733|protein_coding|13/15|c.1141G>C|p.Ala381Pro|1292/2317|1141/1383|381/460||,C|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000449058|protein_coding|13/15|c.1240G>C|p.Ala414Pro|1365/2382|1240/1479|414/492||,C|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000425375|protein_coding|12/14|c.1105G>C|p.Ala369Pro|1230/2252|1105/1344|369/447||,C|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000436462|protein_coding|12/14|c.1126G>C|p.Ala376Pro|1225/1953|1126/1365|376/454||,C|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|15/17|n.*1336G>C|||||23926|,C|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|12/14|n.*1077G>C|||||23756|,C|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|15/17|c.*441G>C|||||14345|,C|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|15/17|n.*1336G>C||||||,C|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|12/14|n.*1077G>C||||||,C|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000492723|retained_intron|1/3|n.1555G>C|||||| 22 35741765 . G A . . ANN=A|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000411850|protein_coding|13/15|c.1272G>A|p.Leu424Leu|1397/2390|1272/1482|424/493||,A|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000447733|protein_coding|13/15|c.1173G>A|p.Leu391Leu|1324/2317|1173/1383|391/460||,A|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000449058|protein_coding|13/15|c.1272G>A|p.Leu424Leu|1397/2382|1272/1479|424/492||,A|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000425375|protein_coding|12/14|c.1137G>A|p.Leu379Leu|1262/2252|1137/1344|379/447||,A|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000436462|protein_coding|12/14|c.1158G>A|p.Leu386Leu|1257/1953|1158/1365|386/454||,A|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|15/17|n.*1368G>A|||||23958|,A|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|12/14|n.*1109G>A|||||23788|,A|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|15/17|c.*473G>A|||||14377|,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|15/17|n.*1368G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|12/14|n.*1109G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000492723|retained_intron|1/3|n.1587G>A|||||| 22 35741816 . A G . . ANN=G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000411850|protein_coding|13/14|c.1284+39A>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000447733|protein_coding|13/14|c.1185+39A>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000449058|protein_coding|13/14|c.1284+39A>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000425375|protein_coding|12/13|c.1149+39A>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|15/16|n.*1380+39A>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|12/13|n.*1121+39A>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000436462|protein_coding|12/13|c.1170+39A>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|15/16|c.*485+39A>G||||||,G|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000492723|retained_intron|1/2|n.1599+39A>G|||||| 22 35741820 . G A . . ANN=A|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000411850|protein_coding|13/14|c.1284+43G>A||||||,A|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000447733|protein_coding|13/14|c.1185+43G>A||||||,A|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000449058|protein_coding|13/14|c.1284+43G>A||||||,A|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000425375|protein_coding|12/13|c.1149+43G>A||||||,A|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|15/16|n.*1380+43G>A||||||,A|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|12/13|n.*1121+43G>A||||||,A|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000436462|protein_coding|12/13|c.1170+43G>A||||||,A|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|15/16|c.*485+43G>A||||||,A|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000492723|retained_intron|1/2|n.1599+43G>A|||||| 22 35741823 . G T . . ANN=T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000411850|protein_coding|13/14|c.1284+46G>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000447733|protein_coding|13/14|c.1185+46G>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000449058|protein_coding|13/14|c.1284+46G>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000425375|protein_coding|12/13|c.1149+46G>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|15/16|n.*1380+46G>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|12/13|n.*1121+46G>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000436462|protein_coding|12/13|c.1170+46G>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|15/16|c.*485+46G>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000492723|retained_intron|1/2|n.1599+46G>T|||||| 22 35742886 . C T . . ANN=T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000411850|protein_coding|13/14|c.1285-37C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000447733|protein_coding|13/14|c.1186-37C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000449058|protein_coding|13/14|c.1285-37C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000425375|protein_coding|12/13|c.1150-37C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|15/16|n.*1381-37C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|12/13|n.*1122-37C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000436462|protein_coding|12/13|c.1171-37C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|15/16|c.*486-37C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000492723|retained_intron|1/2|n.1600-37C>T|||||| 22 35742925 . T G . . ANN=G|splice_region_variant&synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000411850|protein_coding|14/15|c.1287T>G|p.Gly429Gly|1412/2390|1287/1482|429/493||,G|splice_region_variant&synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000447733|protein_coding|14/15|c.1188T>G|p.Gly396Gly|1339/2317|1188/1383|396/460||,G|splice_region_variant&synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000449058|protein_coding|14/15|c.1287T>G|p.Gly429Gly|1412/2382|1287/1479|429/492||,G|splice_region_variant&synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000425375|protein_coding|13/14|c.1152T>G|p.Gly384Gly|1277/2252|1152/1344|384/447||,G|splice_region_variant&non_coding_exon_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|16/17|n.*1383T>G||||||,G|splice_region_variant&non_coding_exon_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|13/14|n.*1124T>G||||||,G|splice_region_variant&synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000436462|protein_coding|13/14|c.1173T>G|p.Gly391Gly|1272/1953|1173/1365|391/454||,G|splice_region_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|16/17|c.*488T>G||||||,G|splice_region_variant&non_coding_exon_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000492723|retained_intron|2/3|n.1602T>G||||||,G|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|16/17|n.*1383T>G|||||25118|,G|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|13/14|n.*1124T>G|||||24948|,G|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|16/17|c.*488T>G|||||15537| 22 35742933 . C T . . ANN=T|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000411850|protein_coding|14/15|c.1295C>T|p.Ala432Val|1420/2390|1295/1482|432/493||,T|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000447733|protein_coding|14/15|c.1196C>T|p.Ala399Val|1347/2317|1196/1383|399/460||,T|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000449058|protein_coding|14/15|c.1295C>T|p.Ala432Val|1420/2382|1295/1479|432/492||,T|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000425375|protein_coding|13/14|c.1160C>T|p.Ala387Val|1285/2252|1160/1344|387/447||,T|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000436462|protein_coding|13/14|c.1181C>T|p.Ala394Val|1280/1953|1181/1365|394/454||,T|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|16/17|n.*1391C>T|||||25126|,T|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|13/14|n.*1132C>T|||||24956|,T|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|16/17|c.*496C>T|||||15545|,T|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|16/17|n.*1391C>T||||||,T|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|13/14|n.*1132C>T||||||,T|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000492723|retained_intron|2/3|n.1610C>T|||||| 22 35743090 . G A . . ANN=A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000411850|protein_coding|15/15|c.1370G>A|p.Arg457Gln|1495/2390|1370/1482|457/493||,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000447733|protein_coding|15/15|c.1271G>A|p.Arg424Gln|1422/2317|1271/1383|424/460||,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000449058|protein_coding|15/15|c.1367G>A|p.Arg456Gln|1492/2382|1367/1479|456/492||,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000425375|protein_coding|14/14|c.1232G>A|p.Arg411Gln|1357/2252|1232/1344|411/447||,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000436462|protein_coding|14/14|c.1253G>A|p.Arg418Gln|1352/1953|1253/1365|418/454||,A|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|17/17|n.*1463G>A|||||25283|,A|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|14/14|n.*1204G>A|||||25113|,A|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|17/17|c.*568G>A|||||15702|,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|17/17|n.*1463G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|14/14|n.*1204G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000492723|retained_intron|3/3|n.1682G>A|||||| 22 35743124 . G C . . ANN=C|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000411850|protein_coding|15/15|c.1404G>C|p.Gly468Gly|1529/2390|1404/1482|468/493||,C|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000447733|protein_coding|15/15|c.1305G>C|p.Gly435Gly|1456/2317|1305/1383|435/460||,C|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000449058|protein_coding|15/15|c.1401G>C|p.Gly467Gly|1526/2382|1401/1479|467/492||,C|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000425375|protein_coding|14/14|c.1266G>C|p.Gly422Gly|1391/2252|1266/1344|422/447||,C|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000436462|protein_coding|14/14|c.1287G>C|p.Gly429Gly|1386/1953|1287/1365|429/454||,C|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|17/17|n.*1497G>C|||||25317|,C|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|14/14|n.*1238G>C|||||25147|,C|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|17/17|c.*602G>C|||||15736|,C|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|17/17|n.*1497G>C||||||,C|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|14/14|n.*1238G>C||||||,C|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000492723|retained_intron|3/3|n.1716G>C|||||| 22 35743151 . G A . . ANN=A|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000411850|protein_coding|15/15|c.1431G>A|p.Ala477Ala|1556/2390|1431/1482|477/493||,A|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000447733|protein_coding|15/15|c.1332G>A|p.Ala444Ala|1483/2317|1332/1383|444/460||,A|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000449058|protein_coding|15/15|c.1428G>A|p.Ala476Ala|1553/2382|1428/1479|476/492||,A|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000425375|protein_coding|14/14|c.1293G>A|p.Ala431Ala|1418/2252|1293/1344|431/447||,A|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000436462|protein_coding|14/14|c.1314G>A|p.Ala438Ala|1413/1953|1314/1365|438/454||,A|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|17/17|n.*1524G>A|||||25344|,A|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|14/14|n.*1265G>A|||||25174|,A|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|17/17|c.*629G>A|||||15763|,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|17/17|n.*1524G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|14/14|n.*1265G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000492723|retained_intron|3/3|n.1743G>A|||||| 22 35743178 . T C . . ANN=C|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000411850|protein_coding|15/15|c.1458T>C|p.Asp486Asp|1583/2390|1458/1482|486/493||,C|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000447733|protein_coding|15/15|c.1359T>C|p.Asp453Asp|1510/2317|1359/1383|453/460||,C|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000449058|protein_coding|15/15|c.1455T>C|p.Asp485Asp|1580/2382|1455/1479|485/492||,C|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000425375|protein_coding|14/14|c.1320T>C|p.Asp440Asp|1445/2252|1320/1344|440/447||,C|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000436462|protein_coding|14/14|c.1341T>C|p.Asp447Asp|1440/1953|1341/1365|447/454||,C|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|17/17|n.*1551T>C|||||25371|,C|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|14/14|n.*1292T>C|||||25201|,C|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|17/17|c.*656T>C|||||15790|,C|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|17/17|n.*1551T>C||||||,C|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|14/14|n.*1292T>C||||||,C|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000492723|retained_intron|3/3|n.1770T>C|||||| 22 35743203 . G C . . ANN=C|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000411850|protein_coding|15/15|c.*1G>C|||||1|,C|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000447733|protein_coding|15/15|c.*1G>C|||||1|,C|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000449058|protein_coding|15/15|c.*1G>C|||||1|,C|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000425375|protein_coding|14/14|c.*1G>C|||||1|,C|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|17/17|n.*1576G>C|||||25396|,C|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|14/14|n.*1317G>C|||||25226|,C|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000436462|protein_coding|14/14|c.*1G>C|||||1|,C|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|17/17|c.*681G>C|||||15815|,C|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|17/17|n.*1576G>C||||||,C|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|14/14|n.*1317G>C||||||,C|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000492723|retained_intron|3/3|n.1795G>C|||||| 22 35777149 . G T . . ANN=T|5_prime_UTR_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000216117|protein_coding|1/5|c.-18G>T|||||18|,T|5_prime_UTR_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000412893|protein_coding|2/4|c.-18G>T|||||18|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000481190|retained_intron|1/3|n.64G>T|||||| 22 35777185 . G C . . ANN=C|missense_variant|MODERATE|HMOX1|ENSG00000100292|transcript|ENST00000216117|protein_coding|1/5|c.19G>C|p.Asp7His|358/1822|19/867|7/288||,C|missense_variant|MODERATE|HMOX1|ENSG00000100292|transcript|ENST00000412893|protein_coding|2/4|c.19G>C|p.Asp7His|379/921|19/561|7/186||WARNING_TRANSCRIPT_NO_STOP_CODON,C|non_coding_exon_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000481190|retained_intron|1/3|n.100G>C|||||| 22 35779124 . C A . . ANN=A|missense_variant|MODERATE|HMOX1|ENSG00000100292|transcript|ENST00000216117|protein_coding|2/5|c.49C>A|p.Leu17Met|388/1822|49/867|17/288||,A|missense_variant|MODERATE|HMOX1|ENSG00000100292|transcript|ENST00000412893|protein_coding|3/4|c.49C>A|p.Leu17Met|409/921|49/561|17/186||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|HMOX1|ENSG00000100292|helix|ENST00000216117|protein_coding|2/5|c.49C>A||||||,A|upstream_gene_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000494998|retained_intron||n.-1C>A|||||3909|,A|non_coding_exon_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000481190|retained_intron|2/3|n.263C>A|||||| 22 35779162 . G T . . ANN=T|missense_variant|MODERATE|HMOX1|ENSG00000100292|transcript|ENST00000216117|protein_coding|2/5|c.87G>T|p.Glu29Asp|426/1822|87/867|29/288||,T|missense_variant|MODERATE|HMOX1|ENSG00000100292|transcript|ENST00000412893|protein_coding|3/4|c.87G>T|p.Glu29Asp|447/921|87/561|29/186||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|HMOX1|ENSG00000100292|helix|ENST00000216117|protein_coding|2/5|c.87G>T||||||,T|upstream_gene_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000494998|retained_intron||n.-1G>T|||||3871|,T|non_coding_exon_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000481190|retained_intron|2/3|n.301G>T|||||| 22 35779223 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|HMOX1|ENSG00000100292|transcript|ENST00000216117|protein_coding|2/4|c.144+4T>C||||||,C|splice_region_variant&intron_variant|LOW|HMOX1|ENSG00000100292|transcript|ENST00000412893|protein_coding|3/3|c.144+4T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|splice_region_variant&intron_variant|LOW|HMOX1|ENSG00000100292|transcript|ENST00000481190|retained_intron|2/2|n.358+4T>C||||||,C|sequence_feature|LOW|HMOX1|ENSG00000100292|helix|ENST00000216117|protein_coding|2/5|c.144+4T>C||||||,C|sequence_feature|LOW|HMOX1|ENSG00000100292|helix|ENST00000216117|protein_coding|3/5|c.144+4T>C||||||,C|upstream_gene_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000494998|retained_intron||n.-1T>C|||||3810| 22 35779254 . G T . . ANN=T|sequence_feature|LOW|HMOX1|ENSG00000100292|helix|ENST00000216117|protein_coding|2/5|c.144+35G>T||||||,T|sequence_feature|LOW|HMOX1|ENSG00000100292|helix|ENST00000216117|protein_coding|3/5|c.144+35G>T||||||,T|upstream_gene_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000494998|retained_intron||n.-1G>T|||||3779|,T|intron_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000216117|protein_coding|2/4|c.144+35G>T||||||,T|intron_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000412893|protein_coding|3/3|c.144+35G>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000481190|retained_intron|2/2|n.358+35G>T|||||| 22 35782659 . C T . . ANN=T|sequence_feature|LOW|HMOX1|ENSG00000100292|helix|ENST00000216117|protein_coding|2/5|c.145-19C>T||||||,T|sequence_feature|LOW|HMOX1|ENSG00000100292|helix|ENST00000216117|protein_coding|3/5|c.145-19C>T||||||,T|upstream_gene_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000494998|retained_intron||n.-1C>T|||||374|,T|intron_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000216117|protein_coding|2/4|c.145-19C>T||||||,T|intron_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000412893|protein_coding|3/3|c.145-19C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000481190|retained_intron|2/2|n.359-19C>T|||||| 22 35782755 . C T . . ANN=T|synonymous_variant|LOW|HMOX1|ENSG00000100292|transcript|ENST00000216117|protein_coding|3/5|c.222C>T|p.Phe74Phe|561/1822|222/867|74/288||,T|synonymous_variant|LOW|HMOX1|ENSG00000100292|transcript|ENST00000412893|protein_coding|4/4|c.222C>T|p.Phe74Phe|582/921|222/561|74/186||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|HMOX1|ENSG00000100292|turn|ENST00000216117|protein_coding|3/5|c.222C>T||||||,T|upstream_gene_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000494998|retained_intron||n.-1C>T|||||278|,T|non_coding_exon_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000481190|retained_intron|3/3|n.436C>T|||||| 22 35782786 . C T . . ANN=T|missense_variant|MODERATE|HMOX1|ENSG00000100292|transcript|ENST00000216117|protein_coding|3/5|c.253C>T|p.Arg85Cys|592/1822|253/867|85/288||,T|missense_variant|MODERATE|HMOX1|ENSG00000100292|transcript|ENST00000412893|protein_coding|4/4|c.253C>T|p.Arg85Cys|613/921|253/561|85/186||WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000494998|retained_intron||n.-1C>T|||||247|,T|non_coding_exon_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000481190|retained_intron|3/3|n.467C>T|||||| 22 35782911 . C T . . ANN=T|synonymous_variant|LOW|HMOX1|ENSG00000100292|transcript|ENST00000216117|protein_coding|3/5|c.378C>T|p.Pro126Pro|717/1822|378/867|126/288||,T|synonymous_variant|LOW|HMOX1|ENSG00000100292|transcript|ENST00000412893|protein_coding|4/4|c.378C>T|p.Pro126Pro|738/921|378/561|126/186||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|HMOX1|ENSG00000100292|helix|ENST00000216117|protein_coding|3/5|c.378C>T||||||,T|upstream_gene_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000494998|retained_intron||n.-1C>T|||||122|,T|downstream_gene_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000481190|retained_intron||n.*582C>T|||||10| 22 35782990 . A C . . ANN=C|missense_variant|MODERATE|HMOX1|ENSG00000100292|transcript|ENST00000216117|protein_coding|3/5|c.457A>C|p.Lys153Gln|796/1822|457/867|153/288||,C|missense_variant|MODERATE|HMOX1|ENSG00000100292|transcript|ENST00000412893|protein_coding|4/4|c.457A>C|p.Lys153Gln|817/921|457/561|153/186||WARNING_TRANSCRIPT_NO_STOP_CODON,C|sequence_feature|LOW|HMOX1|ENSG00000100292|helix|ENST00000216117|protein_coding|3/5|c.457A>C||||||,C|upstream_gene_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000494998|retained_intron||n.-1A>C|||||43|,C|downstream_gene_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000481190|retained_intron||n.*582A>C|||||89| 22 35782991 . A T . . ANN=T|missense_variant|MODERATE|HMOX1|ENSG00000100292|transcript|ENST00000216117|protein_coding|3/5|c.458A>T|p.Lys153Ile|797/1822|458/867|153/288||,T|missense_variant|MODERATE|HMOX1|ENSG00000100292|transcript|ENST00000412893|protein_coding|4/4|c.458A>T|p.Lys153Ile|818/921|458/561|153/186||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|HMOX1|ENSG00000100292|helix|ENST00000216117|protein_coding|3/5|c.458A>T||||||,T|upstream_gene_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000494998|retained_intron||n.-1A>T|||||42|,T|downstream_gene_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000481190|retained_intron||n.*582A>T|||||90| 22 35782992 . A C . . ANN=C|missense_variant|MODERATE|HMOX1|ENSG00000100292|transcript|ENST00000216117|protein_coding|3/5|c.459A>C|p.Lys153Asn|798/1822|459/867|153/288||,C|missense_variant|MODERATE|HMOX1|ENSG00000100292|transcript|ENST00000412893|protein_coding|4/4|c.459A>C|p.Lys153Asn|819/921|459/561|153/186||WARNING_TRANSCRIPT_NO_STOP_CODON,C|sequence_feature|LOW|HMOX1|ENSG00000100292|helix|ENST00000216117|protein_coding|3/5|c.459A>C||||||,C|upstream_gene_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000494998|retained_intron||n.-1A>C|||||41|,C|downstream_gene_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000481190|retained_intron||n.*582A>C|||||91| 22 35783085 . C T . . ANN=T|synonymous_variant|LOW|HMOX1|ENSG00000100292|transcript|ENST00000216117|protein_coding|3/5|c.552C>T|p.Ser184Ser|891/1822|552/867|184/288||,T|synonymous_variant|LOW|HMOX1|ENSG00000100292|transcript|ENST00000412893|protein_coding|4/4|c.552C>T|p.Ser184Ser|912/921|552/561|184/186||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|HMOX1|ENSG00000100292|helix|ENST00000216117|protein_coding|3/5|c.552C>T||||||,T|downstream_gene_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000481190|retained_intron||n.*582C>T|||||184|,T|non_coding_exon_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000494998|retained_intron|1/2|n.53C>T|||||| 22 35783110 . C T . . ANN=T|missense_variant|MODERATE|HMOX1|ENSG00000100292|transcript|ENST00000216117|protein_coding|3/5|c.577C>T|p.Pro193Ser|916/1822|577/867|193/288||,T|sequence_feature|LOW|HMOX1|ENSG00000100292|helix|ENST00000216117|protein_coding|4/5|c.577C>T||||||,T|sequence_feature|LOW|HMOX1|ENSG00000100292|helix|ENST00000216117|protein_coding|3/5|c.577C>T||||||,T|downstream_gene_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000412893|protein_coding||c.*921C>T|||||16|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000481190|retained_intron||n.*582C>T|||||209|,T|non_coding_exon_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000494998|retained_intron|1/2|n.78C>T|||||| 22 35783136 . A G . . ANN=G|synonymous_variant|LOW|HMOX1|ENSG00000100292|transcript|ENST00000216117|protein_coding|3/5|c.603A>G|p.Glu201Glu|942/1822|603/867|201/288||,G|sequence_feature|LOW|HMOX1|ENSG00000100292|helix|ENST00000216117|protein_coding|4/5|c.603A>G||||||,G|sequence_feature|LOW|HMOX1|ENSG00000100292|helix|ENST00000216117|protein_coding|3/5|c.603A>G||||||,G|downstream_gene_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000412893|protein_coding||c.*921A>G|||||42|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000481190|retained_intron||n.*582A>G|||||235|,G|non_coding_exon_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000494998|retained_intron|1/2|n.104A>G|||||| 22 35783149 . G T . . ANN=T|missense_variant|MODERATE|HMOX1|ENSG00000100292|transcript|ENST00000216117|protein_coding|3/5|c.616G>T|p.Ala206Ser|955/1822|616/867|206/288||,T|sequence_feature|LOW|HMOX1|ENSG00000100292|helix|ENST00000216117|protein_coding|4/5|c.616G>T||||||,T|sequence_feature|LOW|HMOX1|ENSG00000100292|helix|ENST00000216117|protein_coding|3/5|c.616G>T||||||,T|downstream_gene_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000412893|protein_coding||c.*921G>T|||||55|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000481190|retained_intron||n.*582G>T|||||248|,T|non_coding_exon_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000494998|retained_intron|1/2|n.117G>T|||||| 22 35783151 . G A . . ANN=A|synonymous_variant|LOW|HMOX1|ENSG00000100292|transcript|ENST00000216117|protein_coding|3/5|c.618G>A|p.Ala206Ala|957/1822|618/867|206/288||,A|sequence_feature|LOW|HMOX1|ENSG00000100292|helix|ENST00000216117|protein_coding|4/5|c.618G>A||||||,A|sequence_feature|LOW|HMOX1|ENSG00000100292|helix|ENST00000216117|protein_coding|3/5|c.618G>A||||||,A|downstream_gene_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000412893|protein_coding||c.*921G>A|||||57|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000481190|retained_intron||n.*582G>A|||||250|,A|non_coding_exon_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000494998|retained_intron|1/2|n.119G>A|||||| 22 35783154 . C T . . ANN=T|synonymous_variant|LOW|HMOX1|ENSG00000100292|transcript|ENST00000216117|protein_coding|3/5|c.621C>T|p.Phe207Phe|960/1822|621/867|207/288||,T|sequence_feature|LOW|HMOX1|ENSG00000100292|helix|ENST00000216117|protein_coding|4/5|c.621C>T||||||,T|sequence_feature|LOW|HMOX1|ENSG00000100292|helix|ENST00000216117|protein_coding|3/5|c.621C>T||||||,T|downstream_gene_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000412893|protein_coding||c.*921C>T|||||60|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000481190|retained_intron||n.*582C>T|||||253|,T|non_coding_exon_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000494998|retained_intron|1/2|n.122C>T|||||| 22 35785982 . TC T . . ANN=|downstream_gene_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000412893|protein_coding||c.*921delC|||||2889|WARNING_TRANSCRIPT_NO_STOP_CODON,|downstream_gene_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000481190|retained_intron||n.*582delC|||||3082|,|intron_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000216117|protein_coding|4/4|c.736+28delC||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000494998|retained_intron|2/2|n.265delC||||||INFO_REALIGN_3_PRIME 22 35786003 . GGACTTGGCTGTCT G . . ANN=|downstream_gene_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000412893|protein_coding||c.*921_*921delGACTTGGCTGTCT|||||2910|WARNING_TRANSCRIPT_NO_STOP_CODON,|downstream_gene_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000481190|retained_intron||n.*582_*582delGACTTGGCTGTCT|||||3103|,|intron_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000216117|protein_coding|4/4|c.736+52_736+64delTGGCTGTCTGACT||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000494998|retained_intron|2/2|n.289_301delTGGCTGTCTGACT||||||INFO_REALIGN_3_PRIME 22 35789421 . C T . . ANN=T|downstream_gene_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000494998|retained_intron||n.*567C>T|||||3135|,T|intron_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000216117|protein_coding|4/4|c.737-40C>T|||||| 22 35789464 . C G . . ANN=G|missense_variant|MODERATE|HMOX1|ENSG00000100292|transcript|ENST00000216117|protein_coding|5/5|c.740C>G|p.Ser247Cys|1079/1822|740/867|247/288||,G|downstream_gene_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000494998|retained_intron||n.*567C>G|||||3178| 22 35789560 . C T . . ANN=T|missense_variant|MODERATE|HMOX1|ENSG00000100292|transcript|ENST00000216117|protein_coding|5/5|c.836C>T|p.Ala279Val|1175/1822|836/867|279/288||,T|downstream_gene_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000494998|retained_intron||n.*567C>T|||||3274| 22 35789584 . C G . . ANN=G|missense_variant|MODERATE|HMOX1|ENSG00000100292|transcript|ENST00000216117|protein_coding|5/5|c.860C>G|p.Ala287Gly|1199/1822|860/867|287/288||,G|downstream_gene_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000494998|retained_intron||n.*567C>G|||||3298| 22 35789585 . C T . . ANN=T|synonymous_variant|LOW|HMOX1|ENSG00000100292|transcript|ENST00000216117|protein_coding|5/5|c.861C>T|p.Ala287Ala|1200/1822|861/867|287/288||,T|downstream_gene_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000494998|retained_intron||n.*567C>T|||||3299| 22 35796398 . G C . . ANN=C|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding||c.-100G>C|||||26|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|1/16|c.-8-26G>C||||||,C|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000451351|nonsense_mediated_decay|1/3|n.-8-26G>C||||||,C|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|1/15|c.-8-26G>C||||||,C|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000417343|processed_transcript|1/1|n.26+238G>C||||||,C|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000416905|protein_coding|1/5|c.-8-26G>C||||||WARNING_TRANSCRIPT_INCOMPLETE 22 35796415 . C T . . ANN=T|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding||c.-100C>T|||||9|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|1/16|c.-8-9C>T||||||,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000451351|nonsense_mediated_decay|1/3|n.-8-9C>T||||||,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|1/15|c.-8-9C>T||||||,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000417343|processed_transcript|1/1|n.26+255C>T||||||,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000416905|protein_coding|1/5|c.-8-9C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 35796437 . G A . . ANN=A|sequence_feature|MODERATE|MCM5|ENSG00000100297|amino_acid_modification:N-acetylserine|ENST00000216122|protein_coding|2/17|c.6G>A||||||,A|synonymous_variant|LOW|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|2/17|c.6G>A|p.Ser2Ser|160/3534|6/2205|2/734||,A|synonymous_variant|LOW|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|2/16|c.6G>A|p.Ser2Ser|86/2402|6/2076|2/691||,A|synonymous_variant|LOW|MCM5|ENSG00000100297|transcript|ENST00000416905|protein_coding|2/6|c.6G>A|p.Ser2Ser|53/739|6/692|2/229||WARNING_TRANSCRIPT_INCOMPLETE,A|5_prime_UTR_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding|1/5|c.-86G>A|||||6115|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000417343|processed_transcript|1/1|n.26+277G>A||||||,A|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000451351|nonsense_mediated_decay|2/4|n.6G>A|||||| 22 35796514 . A C . . ANN=C|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|2/17|c.83A>C|p.Lys28Thr|237/3534|83/2205|28/734||,C|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|2/16|c.83A>C|p.Lys28Thr|163/2402|83/2076|28/691||,C|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000416905|protein_coding|2/6|c.83A>C|p.Lys28Thr|130/739|83/692|28/229||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000417343|processed_transcript|1/1|n.26+354A>C||||||,C|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding|1/4|c.-32+23A>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000451351|nonsense_mediated_decay|2/4|n.83A>C|||||| 22 35796578 . G T . . ANN=T|synonymous_variant|LOW|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|2/17|c.147G>T|p.Thr49Thr|301/3534|147/2205|49/734||,T|synonymous_variant|LOW|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|2/16|c.147G>T|p.Thr49Thr|227/2402|147/2076|49/691||,T|synonymous_variant|LOW|MCM5|ENSG00000100297|transcript|ENST00000416905|protein_coding|2/6|c.147G>T|p.Thr49Thr|194/739|147/692|49/229||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000417343|processed_transcript|1/1|n.26+418G>T||||||,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding|1/4|c.-32+87G>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000451351|nonsense_mediated_decay|2/4|n.147G>T|||||| 22 35796605 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|2/16|c.167+7C>T||||||,T|splice_region_variant&intron_variant|LOW|MCM5|ENSG00000100297|transcript|ENST00000451351|nonsense_mediated_decay|2/3|n.167+7C>T||||||,T|splice_region_variant&intron_variant|LOW|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|2/15|c.167+7C>T||||||,T|splice_region_variant&intron_variant|LOW|MCM5|ENSG00000100297|transcript|ENST00000416905|protein_coding|2/5|c.167+7C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000417343|processed_transcript|1/1|n.26+445C>T||||||,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding|1/4|c.-32+114C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 35796622 . G C . . ANN=C|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|2/16|c.167+24G>C||||||,C|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000451351|nonsense_mediated_decay|2/3|n.167+24G>C||||||,C|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|2/15|c.167+24G>C||||||,C|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000417343|processed_transcript|1/1|n.26+462G>C||||||,C|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000416905|protein_coding|2/5|c.167+24G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding|1/4|c.-32+131G>C||||||WARNING_TRANSCRIPT_INCOMPLETE 22 35799185 . A G . . ANN=G|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|2/16|c.168-15A>G||||||,G|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000451351|nonsense_mediated_decay|3/3|n.*143-15A>G||||||,G|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|2/15|c.168-15A>G||||||,G|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000417343|processed_transcript|1/1|n.26+3025A>G||||||,G|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000416905|protein_coding|3/5|c.264-15A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding|1/4|c.-31-326A>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 35799213 . C T . . ANN=T|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|3/17|c.181C>T|p.Arg61Trp|335/3534|181/2205|61/734||,T|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|3/16|c.181C>T|p.Arg61Trp|261/2402|181/2076|61/691||,T|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000416905|protein_coding|4/6|c.277C>T|p.Arg93Trp|324/739|277/692|93/229||WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000451351|nonsense_mediated_decay|4/4|n.*156C>T|||||1548|,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000417343|processed_transcript|1/1|n.26+3053C>T||||||,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding|1/4|c.-31-298C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000451351|nonsense_mediated_decay|4/4|n.*156C>T|||||| 22 35799299 . C T . . ANN=T|synonymous_variant|LOW|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|3/17|c.267C>T|p.Tyr89Tyr|421/3534|267/2205|89/734||,T|synonymous_variant|LOW|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|3/16|c.267C>T|p.Tyr89Tyr|347/2402|267/2076|89/691||,T|synonymous_variant|LOW|MCM5|ENSG00000100297|transcript|ENST00000416905|protein_coding|4/6|c.363C>T|p.Tyr121Tyr|410/739|363/692|121/229||WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000451351|nonsense_mediated_decay||n.*257C>T|||||49|,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000417343|processed_transcript|1/1|n.26+3139C>T||||||,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding|1/4|c.-31-212C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 35799345 . C A . . ANN=A|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000451351|nonsense_mediated_decay||n.*257C>A|||||95|,A|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|3/16|c.294+19C>A||||||,A|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|3/15|c.294+19C>A||||||,A|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000417343|processed_transcript|1/1|n.26+3185C>A||||||,A|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000416905|protein_coding|4/5|c.390+19C>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding|1/4|c.-31-166C>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 35799447 . G A . . ANN=A|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|4/17|c.335G>A|p.Arg112Gln|489/3534|335/2205|112/734||,A|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000416905|protein_coding|5/6|c.431G>A|p.Arg144Gln|478/739|431/692|144/229||WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000451351|nonsense_mediated_decay||n.*257G>A|||||197|,A|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|3/15|c.294+121G>A||||||,A|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000417343|processed_transcript|1/1|n.26+3287G>A||||||,A|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding|1/4|c.-31-64G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 35799487 . G C . . ANN=C|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|4/17|c.375G>C|p.Gln125His|529/3534|375/2205|125/734||,C|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000416905|protein_coding|5/6|c.471G>C|p.Gln157His|518/739|471/692|157/229||WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000451351|nonsense_mediated_decay||n.*257G>C|||||237|,C|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|3/15|c.294+161G>C||||||,C|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000417343|processed_transcript|1/1|n.26+3327G>C||||||,C|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding|1/4|c.-31-24G>C||||||WARNING_TRANSCRIPT_INCOMPLETE 22 35799525 . G A . . ANN=A|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|4/17|c.413G>A|p.Arg138His|567/3534|413/2205|138/734||,A|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000416905|protein_coding|5/6|c.509G>A|p.Arg170His|556/739|509/692|170/229||WARNING_TRANSCRIPT_INCOMPLETE,A|5_prime_UTR_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding|2/5|c.-17G>A|||||3027|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000451351|nonsense_mediated_decay||n.*257G>A|||||275|,A|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|3/15|c.294+199G>A||||||,A|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000417343|processed_transcript|1/1|n.26+3365G>A|||||| 22 35799542 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|4/16|c.423+7C>T||||||,T|splice_region_variant&intron_variant|LOW|MCM5|ENSG00000100297|transcript|ENST00000416905|protein_coding|5/5|c.519+7C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|splice_region_variant&intron_variant|LOW|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding|2/4|c.-7+7C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000451351|nonsense_mediated_decay||n.*257C>T|||||292|,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|3/15|c.294+216C>T||||||,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000417343|processed_transcript|1/1|n.26+3382C>T|||||| 22 35799584 . C G . . ANN=G|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000451351|nonsense_mediated_decay||n.*257C>G|||||334|,G|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|4/16|c.423+49C>G||||||,G|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|3/15|c.294+258C>G||||||,G|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000417343|processed_transcript|1/1|n.26+3424C>G||||||,G|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000416905|protein_coding|5/5|c.519+49C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding|2/4|c.-7+49C>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 35802530 . G A . . ANN=A|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript||n.-1G>A|||||3822|,A|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron||n.-1G>A|||||3872|,A|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript||n.-1G>A|||||4707|,A|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript||n.-1G>A|||||4902|,A|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000451351|nonsense_mediated_decay||n.*257G>A|||||3280|,A|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|4/16|c.424-16G>A||||||,A|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|3/15|c.295-16G>A||||||,A|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000417343|processed_transcript|1/1|n.27-2941G>A||||||,A|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000416905|protein_coding|5/5|c.520-16G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding|2/4|c.-6-16G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 35802572 . G C . . ANN=C|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|5/17|c.450G>C|p.Lys150Asn|604/3534|450/2205|150/734||,C|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|4/16|c.321G>C|p.Lys107Asn|401/2402|321/2076|107/691||,C|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000416905|protein_coding|6/6|c.546G>C|p.Lys182Asn|593/739|546/692|182/229||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding|3/5|c.21G>C|p.Lys7Asn|120/551|21/452|7/149||WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript||n.-1G>C|||||3780|,C|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron||n.-1G>C|||||3830|,C|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript||n.-1G>C|||||4665|,C|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript||n.-1G>C|||||4860|,C|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000451351|nonsense_mediated_decay||n.*257G>C|||||3322|,C|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000417343|processed_transcript|1/1|n.27-2899G>C|||||| 22 35802592 . C T . . ANN=T|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|5/17|c.470C>T|p.Ala157Val|624/3534|470/2205|157/734||,T|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|4/16|c.341C>T|p.Ala114Val|421/2402|341/2076|114/691||,T|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000416905|protein_coding|6/6|c.566C>T|p.Ala189Val|613/739|566/692|189/229||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding|3/5|c.41C>T|p.Ala14Val|140/551|41/452|14/149||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript||n.-1C>T|||||3760|,T|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron||n.-1C>T|||||3810|,T|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript||n.-1C>T|||||4645|,T|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript||n.-1C>T|||||4840|,T|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000451351|nonsense_mediated_decay||n.*257C>T|||||3342|,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000417343|processed_transcript|1/1|n.27-2879C>T|||||| 22 35802621 . C T . . ANN=T|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|5/17|c.499C>T|p.Arg167Cys|653/3534|499/2205|167/734||,T|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|4/16|c.370C>T|p.Arg124Cys|450/2402|370/2076|124/691||,T|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000416905|protein_coding|6/6|c.595C>T|p.Arg199Cys|642/739|595/692|199/229||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding|3/5|c.70C>T|p.Arg24Cys|169/551|70/452|24/149||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript||n.-1C>T|||||3731|,T|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron||n.-1C>T|||||3781|,T|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript||n.-1C>T|||||4616|,T|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript||n.-1C>T|||||4811|,T|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000451351|nonsense_mediated_decay||n.*257C>T|||||3371|,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000417343|processed_transcript|1/1|n.27-2850C>T|||||| 22 35802650 . C A . . ANN=A|synonymous_variant|LOW|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|5/17|c.528C>A|p.Arg176Arg|682/3534|528/2205|176/734||,A|synonymous_variant|LOW|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|4/16|c.399C>A|p.Arg133Arg|479/2402|399/2076|133/691||,A|synonymous_variant|LOW|MCM5|ENSG00000100297|transcript|ENST00000416905|protein_coding|6/6|c.624C>A|p.Arg208Arg|671/739|624/692|208/229||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding|3/5|c.99C>A|p.Arg33Arg|198/551|99/452|33/149||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript||n.-1C>A|||||3702|,A|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron||n.-1C>A|||||3752|,A|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript||n.-1C>A|||||4587|,A|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript||n.-1C>A|||||4782|,A|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000451351|nonsense_mediated_decay||n.*257C>A|||||3400|,A|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000417343|processed_transcript|1/1|n.27-2821C>A|||||| 22 35802659 . C G . . ANN=G|synonymous_variant|LOW|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|5/17|c.537C>G|p.Leu179Leu|691/3534|537/2205|179/734||,G|synonymous_variant|LOW|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|4/16|c.408C>G|p.Leu136Leu|488/2402|408/2076|136/691||,G|synonymous_variant|LOW|MCM5|ENSG00000100297|transcript|ENST00000416905|protein_coding|6/6|c.633C>G|p.Leu211Leu|680/739|633/692|211/229||WARNING_TRANSCRIPT_INCOMPLETE,G|synonymous_variant|LOW|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding|3/5|c.108C>G|p.Leu36Leu|207/551|108/452|36/149||WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript||n.-1C>G|||||3693|,G|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron||n.-1C>G|||||3743|,G|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript||n.-1C>G|||||4578|,G|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript||n.-1C>G|||||4773|,G|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000451351|nonsense_mediated_decay||n.*257C>G|||||3409|,G|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000417343|processed_transcript|1/1|n.27-2812C>G|||||| 22 35802661 . C G . . ANN=G|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|5/17|c.539C>G|p.Thr180Ser|693/3534|539/2205|180/734||,G|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|4/16|c.410C>G|p.Thr137Ser|490/2402|410/2076|137/691||,G|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000416905|protein_coding|6/6|c.635C>G|p.Thr212Ser|682/739|635/692|212/229||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding|3/5|c.110C>G|p.Thr37Ser|209/551|110/452|37/149||WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript||n.-1C>G|||||3691|,G|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron||n.-1C>G|||||3741|,G|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript||n.-1C>G|||||4576|,G|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript||n.-1C>G|||||4771|,G|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000451351|nonsense_mediated_decay||n.*257C>G|||||3411|,G|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000417343|processed_transcript|1/1|n.27-2810C>G|||||| 22 35802675 . C T . . ANN=T|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|5/17|c.553C>T|p.Arg185Cys|707/3534|553/2205|185/734||,T|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|4/16|c.424C>T|p.Arg142Cys|504/2402|424/2076|142/691||,T|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000416905|protein_coding|6/6|c.649C>T|p.Arg217Cys|696/739|649/692|217/229||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding|3/5|c.124C>T|p.Arg42Cys|223/551|124/452|42/149||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript||n.-1C>T|||||3677|,T|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron||n.-1C>T|||||3727|,T|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript||n.-1C>T|||||4562|,T|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript||n.-1C>T|||||4757|,T|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000451351|nonsense_mediated_decay||n.*257C>T|||||3425|,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000417343|processed_transcript|1/1|n.27-2796C>T|||||| 22 35802686 . C T . . ANN=T|synonymous_variant|LOW|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|5/17|c.564C>T|p.Leu188Leu|718/3534|564/2205|188/734||,T|synonymous_variant|LOW|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|4/16|c.435C>T|p.Leu145Leu|515/2402|435/2076|145/691||,T|synonymous_variant|LOW|MCM5|ENSG00000100297|transcript|ENST00000416905|protein_coding|6/6|c.660C>T|p.Leu220Leu|707/739|660/692|220/229||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding|3/5|c.135C>T|p.Leu45Leu|234/551|135/452|45/149||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript||n.-1C>T|||||3666|,T|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron||n.-1C>T|||||3716|,T|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript||n.-1C>T|||||4551|,T|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript||n.-1C>T|||||4746|,T|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000451351|nonsense_mediated_decay||n.*257C>T|||||3436|,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000417343|processed_transcript|1/1|n.27-2785C>T|||||| 22 35802718 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|5/17|c.596C>T|p.Thr199Ile|750/3534|596/2205|199/734||,T|missense_variant&splice_region_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|4/16|c.467C>T|p.Thr156Ile|547/2402|467/2076|156/691||,T|missense_variant&splice_region_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding|3/5|c.167C>T|p.Thr56Ile|266/551|167/452|56/149||WARNING_TRANSCRIPT_INCOMPLETE,T|splice_region_variant&synonymous_variant|LOW|MCM5|ENSG00000100297|transcript|ENST00000416905|protein_coding|6/6|c.692C>T|p.???231???|739/739|692/692|231/229||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript||n.-1C>T|||||3634|,T|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron||n.-1C>T|||||3684|,T|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript||n.-1C>T|||||4519|,T|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript||n.-1C>T|||||4714|,T|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000451351|nonsense_mediated_decay||n.*257C>T|||||3468|,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000417343|processed_transcript|1/1|n.27-2753C>T|||||| 22 35804479 . G T . . ANN=T|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|6/17|c.675G>T|p.Gln225His|829/3534|675/2205|225/734||,T|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|5/16|c.546G>T|p.Gln182His|626/2402|546/2076|182/691||,T|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding|4/5|c.246G>T|p.Gln82His|345/551|246/452|82/149||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript||n.-1G>T|||||1873|,T|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron||n.-1G>T|||||1923|,T|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript||n.-1G>T|||||2758|,T|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript||n.-1G>T|||||2953|,T|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000416905|protein_coding||c.*739G>T|||||1761|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000417343|processed_transcript|1/1|n.27-992G>T|||||| 22 35804589 . C T . . ANN=T|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript||n.-1C>T|||||1763|,T|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron||n.-1C>T|||||1813|,T|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript||n.-1C>T|||||2648|,T|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript||n.-1C>T|||||2843|,T|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000416905|protein_coding||c.*739C>T|||||1871|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|6/16|c.752+33C>T||||||,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|5/15|c.623+33C>T||||||,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000417343|processed_transcript|1/1|n.27-882C>T||||||,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding|4/4|c.323+33C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 35806700 . C T . . ANN=T|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript||n.-1C>T|||||537|,T|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript||n.-1C>T|||||732|,T|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000417343|processed_transcript||n.*557C>T|||||699|,T|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000416905|protein_coding||c.*739C>T|||||3982|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|6/16|c.753-37C>T||||||,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|5/15|c.624-37C>T||||||,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding|4/4|c.324-37C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript|1/4|n.24-37C>T||||||,T|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|1/9|n.299C>T|||||| 22 35806716 . TC T . . ANN=|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript||n.-1delC|||||520|,|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript||n.-1delC|||||715|,|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000417343|processed_transcript||n.*557delC|||||716|,|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000416905|protein_coding||c.*739delC|||||3999|WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|6/16|c.753-20delC||||||,|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|5/15|c.624-20delC||||||,|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding|4/4|c.324-20delC||||||WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript|1/4|n.24-20delC||||||,|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|1/9|n.316delC|||||| 22 35806720 . C T . . ANN=T|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript||n.-1C>T|||||517|,T|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript||n.-1C>T|||||712|,T|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000417343|processed_transcript||n.*557C>T|||||719|,T|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000416905|protein_coding||c.*739C>T|||||4002|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|6/16|c.753-17C>T||||||,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|5/15|c.624-17C>T||||||,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding|4/4|c.324-17C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript|1/4|n.24-17C>T||||||,T|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|1/9|n.319C>T|||||| 22 35806756 . G A . . ANN=A|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|7/17|c.772G>A|p.Val258Ile|926/3534|772/2205|258/734||,A|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|6/16|c.643G>A|p.Val215Ile|723/2402|643/2076|215/691||,A|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding|5/5|c.343G>A|p.Val115Ile|442/551|343/452|115/149||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript||n.-1G>A|||||481|,A|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript||n.-1G>A|||||676|,A|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000417343|processed_transcript||n.*557G>A|||||755|,A|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000416905|protein_coding||c.*739G>A|||||4038|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript|2/5|n.43G>A||||||,A|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|1/9|n.355G>A|||||| 22 35806815 . T C . . ANN=C|synonymous_variant|LOW|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|7/17|c.831T>C|p.Thr277Thr|985/3534|831/2205|277/734||,C|synonymous_variant|LOW|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|6/16|c.702T>C|p.Thr234Thr|782/2402|702/2076|234/691||,C|synonymous_variant|LOW|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding|5/5|c.402T>C|p.Thr134Thr|501/551|402/452|134/149||WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript||n.-1T>C|||||422|,C|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript||n.-1T>C|||||617|,C|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000417343|processed_transcript||n.*557T>C|||||814|,C|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000416905|protein_coding||c.*739T>C|||||4097|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript|2/5|n.102T>C||||||,C|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|1/9|n.414T>C|||||| 22 35806821 . C T . . ANN=T|synonymous_variant|LOW|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|7/17|c.837C>T|p.Ser279Ser|991/3534|837/2205|279/734||,T|synonymous_variant|LOW|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|6/16|c.708C>T|p.Ser236Ser|788/2402|708/2076|236/691||,T|synonymous_variant|LOW|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding|5/5|c.408C>T|p.Ser136Ser|507/551|408/452|136/149||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript||n.-1C>T|||||416|,T|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript||n.-1C>T|||||611|,T|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000417343|processed_transcript||n.*557C>T|||||820|,T|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000416905|protein_coding||c.*739C>T|||||4103|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript|2/5|n.108C>T||||||,T|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|1/9|n.420C>T|||||| 22 35808484 . G A . . ANN=A|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000417343|processed_transcript||n.*557G>A|||||2483|,A|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding||c.*551G>A|||||1619|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|7/16|c.920-19G>A||||||,A|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|6/15|c.791-19G>A||||||,A|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript|2/4|n.191-19G>A||||||,A|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|1/8|n.503-19G>A||||||,A|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript|1/3|n.48-19G>A||||||,A|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript|1/5|n.59-19G>A|||||| 22 35808550 . C T . . ANN=T|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|8/17|c.967C>T|p.Arg323Cys|1121/3534|967/2205|323/734||,T|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|7/16|c.838C>T|p.Arg280Cys|918/2402|838/2076|280/691||,T|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000417343|processed_transcript||n.*557C>T|||||2549|,T|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding||c.*551C>T|||||1685|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript|3/5|n.238C>T||||||,T|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|2/9|n.550C>T||||||,T|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript|2/4|n.95C>T||||||,T|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript|2/6|n.106C>T|||||| 22 35808708 . C T . . ANN=T|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|11/17|c.1091+34C>T||||||,T|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|12/17|c.1091+34C>T||||||,T|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|13/17|c.1091+34C>T||||||,T|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|10/17|c.1091+34C>T||||||,T|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|9/17|c.1091+34C>T||||||,T|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|8/17|c.1091+34C>T||||||,T|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000417343|processed_transcript||n.*557C>T|||||2707|,T|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding||c.*551C>T|||||1843|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|8/16|c.1091+34C>T||||||,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|7/15|c.962+34C>T||||||,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript|3/4|n.362+34C>T||||||,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|2/8|n.674+34C>T||||||,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript|2/3|n.219+34C>T||||||,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript|2/5|n.230+34C>T|||||| 22 35809819 . C T . . ANN=T|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|11/17|c.1092-49C>T||||||,T|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|12/17|c.1092-49C>T||||||,T|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|13/17|c.1092-49C>T||||||,T|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|10/17|c.1092-49C>T||||||,T|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|9/17|c.1092-49C>T||||||,T|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|8/17|c.1092-49C>T||||||,T|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000417343|processed_transcript||n.*557C>T|||||3818|,T|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding||c.*551C>T|||||2954|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|8/16|c.1092-49C>T||||||,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|7/15|c.963-49C>T||||||,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript|3/4|n.363-49C>T||||||,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|2/8|n.675-49C>T||||||,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript|2/3|n.220-49C>T||||||,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript|2/5|n.231-49C>T|||||| 22 35809945 . T G . . ANN=G|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|9/17|c.1169T>G|p.Leu390Arg|1323/3534|1169/2205|390/734||,G|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|8/16|c.1040T>G|p.Leu347Arg|1120/2402|1040/2076|347/691||,G|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|11/17|c.1169T>G||||||,G|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|12/17|c.1169T>G||||||,G|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|13/17|c.1169T>G||||||,G|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|10/17|c.1169T>G||||||,G|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|9/17|c.1169T>G||||||,G|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|8/17|c.1169T>G||||||,G|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000417343|processed_transcript||n.*557T>G|||||3944|,G|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding||c.*551T>G|||||3080|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript|4/5|n.440T>G||||||,G|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|3/9|n.752T>G||||||,G|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript|3/4|n.297T>G||||||,G|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript|3/6|n.308T>G|||||| 22 35810001 . T C . . ANN=C|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|11/17|c.1203+22T>C||||||,C|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|12/17|c.1203+22T>C||||||,C|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|13/17|c.1203+22T>C||||||,C|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|10/17|c.1203+22T>C||||||,C|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|9/17|c.1203+22T>C||||||,C|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|8/17|c.1203+22T>C||||||,C|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000417343|processed_transcript||n.*557T>C|||||4000|,C|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding||c.*551T>C|||||3136|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|9/16|c.1203+22T>C||||||,C|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|8/15|c.1074+22T>C||||||,C|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript|4/4|n.474+22T>C||||||,C|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|3/8|n.786+22T>C||||||,C|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript|3/3|n.331+22T>C||||||,C|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript|3/5|n.342+22T>C|||||| 22 35810013 . T C . . ANN=C|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|11/17|c.1203+34T>C||||||,C|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|12/17|c.1203+34T>C||||||,C|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|13/17|c.1203+34T>C||||||,C|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|10/17|c.1203+34T>C||||||,C|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|9/17|c.1203+34T>C||||||,C|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|8/17|c.1203+34T>C||||||,C|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000417343|processed_transcript||n.*557T>C|||||4012|,C|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding||c.*551T>C|||||3148|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|9/16|c.1203+34T>C||||||,C|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|8/15|c.1074+34T>C||||||,C|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript|4/4|n.474+34T>C||||||,C|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|3/8|n.786+34T>C||||||,C|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript|3/3|n.331+34T>C||||||,C|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript|3/5|n.342+34T>C|||||| 22 35811830 . G C . . ANN=C|synonymous_variant|LOW|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|10/17|c.1212G>C|p.Thr404Thr|1366/3534|1212/2205|404/734||,C|synonymous_variant|LOW|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|9/16|c.1083G>C|p.Thr361Thr|1163/2402|1083/2076|361/691||,C|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|11/17|c.1212G>C||||||,C|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|12/17|c.1212G>C||||||,C|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|13/17|c.1212G>C||||||,C|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|10/17|c.1212G>C||||||,C|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|9/17|c.1212G>C||||||,C|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|8/17|c.1212G>C||||||,C|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding||c.*551G>C|||||4965|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript|5/5|n.483G>C||||||,C|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|4/9|n.795G>C||||||,C|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript|4/4|n.340G>C||||||,C|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript|4/6|n.351G>C|||||| 22 35811852 . G A . . ANN=A|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|10/17|c.1234G>A|p.Ala412Thr|1388/3534|1234/2205|412/734||,A|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|9/16|c.1105G>A|p.Ala369Thr|1185/2402|1105/2076|369/691||,A|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|11/17|c.1234G>A||||||,A|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|12/17|c.1234G>A||||||,A|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|13/17|c.1234G>A||||||,A|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|10/17|c.1234G>A||||||,A|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|9/17|c.1234G>A||||||,A|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|8/17|c.1234G>A||||||,A|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding||c.*551G>A|||||4987|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript|5/5|n.505G>A||||||,A|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|4/9|n.817G>A||||||,A|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript|4/4|n.362G>A||||||,A|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript|4/6|n.373G>A|||||| 22 35811915 . G A . . ANN=A|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|10/17|c.1297G>A|p.Ala433Thr|1451/3534|1297/2205|433/734||,A|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|9/16|c.1168G>A|p.Ala390Thr|1248/2402|1168/2076|390/691||,A|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|11/17|c.1297G>A||||||,A|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|12/17|c.1297G>A||||||,A|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|13/17|c.1297G>A||||||,A|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|10/17|c.1297G>A||||||,A|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|9/17|c.1297G>A||||||,A|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|8/17|c.1297G>A||||||,A|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript||n.*554G>A|||||14|,A|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|4/9|n.880G>A||||||,A|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript|4/4|n.425G>A||||||,A|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript|4/6|n.436G>A|||||| 22 35812004 . G A . . ANN=A|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|11/17|c.1347+39G>A||||||,A|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|12/17|c.1347+39G>A||||||,A|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|13/17|c.1347+39G>A||||||,A|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|10/17|c.1347+39G>A||||||,A|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|9/17|c.1347+39G>A||||||,A|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|8/17|c.1347+39G>A||||||,A|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript||n.*554G>A|||||103|,A|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript||n.*468G>A|||||46|,A|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|10/16|c.1347+39G>A||||||,A|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|9/15|c.1218+39G>A||||||,A|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|4/8|n.930+39G>A||||||,A|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript|4/5|n.486+39G>A|||||| 22 35812342 . A G . . ANN=G|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|11/17|c.1358A>G|p.Asp453Gly|1512/3534|1358/2205|453/734||,G|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|10/16|c.1229A>G|p.Asp410Gly|1309/2402|1229/2076|410/691||,G|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|11/17|c.1358A>G||||||,G|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|12/17|c.1358A>G||||||,G|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|13/17|c.1358A>G||||||,G|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|10/17|c.1358A>G||||||,G|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|9/17|c.1358A>G||||||,G|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|8/17|c.1358A>G||||||,G|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript||n.*554A>G|||||441|,G|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript||n.*468A>G|||||384|,G|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|5/9|n.941A>G||||||,G|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript|5/6|n.497A>G|||||| 22 35812389 . A G . . ANN=G|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|11/17|c.1405A>G|p.Ile469Val|1559/3534|1405/2205|469/734||,G|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|10/16|c.1276A>G|p.Ile426Val|1356/2402|1276/2076|426/691||,G|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|11/17|c.1405A>G||||||,G|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|12/17|c.1405A>G||||||,G|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|13/17|c.1405A>G||||||,G|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|10/17|c.1405A>G||||||,G|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|9/17|c.1405A>G||||||,G|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|8/17|c.1405A>G||||||,G|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript||n.*554A>G|||||488|,G|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript||n.*468A>G|||||431|,G|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|5/9|n.988A>G||||||,G|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript|5/6|n.544A>G|||||| 22 35812408 . C T . . ANN=T|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|11/17|c.1413+11C>T||||||,T|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|12/17|c.1413+11C>T||||||,T|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|13/17|c.1413+11C>T||||||,T|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|10/17|c.1413+11C>T||||||,T|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|9/17|c.1413+11C>T||||||,T|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|8/17|c.1413+11C>T||||||,T|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript||n.*554C>T|||||507|,T|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript||n.*468C>T|||||450|,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|11/16|c.1413+11C>T||||||,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|10/15|c.1284+11C>T||||||,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|5/8|n.996+11C>T||||||,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript|5/5|n.552+11C>T|||||| 22 35812441 . G C . . ANN=C|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|11/17|c.1413+44G>C||||||,C|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|12/17|c.1413+44G>C||||||,C|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|13/17|c.1413+44G>C||||||,C|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|10/17|c.1413+44G>C||||||,C|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|9/17|c.1413+44G>C||||||,C|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|8/17|c.1413+44G>C||||||,C|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript||n.*554G>C|||||540|,C|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript||n.*468G>C|||||483|,C|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|11/16|c.1413+44G>C||||||,C|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|10/15|c.1284+44G>C||||||,C|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|5/8|n.996+44G>C||||||,C|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript|5/5|n.552+44G>C|||||| 22 35812781 . G T . . ANN=T|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|12/17|c.1564G>T|p.Asp522Tyr|1718/3534|1564/2205|522/734||,T|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|11/16|c.1435G>T|p.Asp479Tyr|1515/2402|1435/2076|479/691||,T|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|11/17|c.1564G>T||||||,T|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|12/17|c.1564G>T||||||,T|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|13/17|c.1564G>T||||||,T|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|10/17|c.1564G>T||||||,T|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|9/17|c.1564G>T||||||,T|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|8/17|c.1564G>T||||||,T|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript||n.*554G>T|||||880|,T|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript||n.*468G>T|||||823|,T|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript||n.*587G>T|||||116|,T|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|6/9|n.1147G>T|||||| 22 35812789 . C T . . ANN=T|synonymous_variant|LOW|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|12/17|c.1572C>T|p.His524His|1726/3534|1572/2205|524/734||,T|synonymous_variant|LOW|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|11/16|c.1443C>T|p.His481His|1523/2402|1443/2076|481/691||,T|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|11/17|c.1572C>T||||||,T|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|12/17|c.1572C>T||||||,T|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|13/17|c.1572C>T||||||,T|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|10/17|c.1572C>T||||||,T|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|9/17|c.1572C>T||||||,T|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|8/17|c.1572C>T||||||,T|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript||n.*554C>T|||||888|,T|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript||n.*468C>T|||||831|,T|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript||n.*587C>T|||||124|,T|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|6/9|n.1155C>T|||||| 22 35813718 . T C . . ANN=C|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|11/17|c.1591-19T>C||||||,C|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|12/17|c.1591-19T>C||||||,C|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|13/17|c.1591-19T>C||||||,C|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|10/17|c.1591-19T>C||||||,C|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|9/17|c.1591-19T>C||||||,C|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|8/17|c.1591-19T>C||||||,C|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript||n.*554T>C|||||1817|,C|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript||n.*468T>C|||||1760|,C|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript||n.*587T>C|||||1053|,C|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|12/16|c.1591-19T>C||||||,C|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|11/15|c.1462-19T>C||||||,C|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|6/8|n.1174-19T>C|||||| 22 35813766 . C T . . ANN=T|synonymous_variant|LOW|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|13/17|c.1620C>T|p.His540His|1774/3534|1620/2205|540/734||,T|synonymous_variant|LOW|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|12/16|c.1491C>T|p.His497His|1571/2402|1491/2076|497/691||,T|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript||n.*554C>T|||||1865|,T|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript||n.*468C>T|||||1808|,T|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript||n.*587C>T|||||1101|,T|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|7/9|n.1203C>T|||||| 22 35813767 . G A . . ANN=A|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|13/17|c.1621G>A|p.Val541Met|1775/3534|1621/2205|541/734||,A|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|12/16|c.1492G>A|p.Val498Met|1572/2402|1492/2076|498/691||,A|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript||n.*554G>A|||||1866|,A|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript||n.*468G>A|||||1809|,A|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript||n.*587G>A|||||1102|,A|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|7/9|n.1204G>A|||||| 22 35813772 . C G . . ANN=G|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|13/17|c.1626C>G|p.Ser542Arg|1780/3534|1626/2205|542/734||,G|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|12/16|c.1497C>G|p.Ser499Arg|1577/2402|1497/2076|499/691||,G|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript||n.*554C>G|||||1871|,G|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript||n.*468C>G|||||1814|,G|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript||n.*587C>G|||||1107|,G|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|7/9|n.1209C>G|||||| 22 35813809 . G A . . ANN=A|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|13/17|c.1663G>A|p.Asp555Asn|1817/3534|1663/2205|555/734||,A|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|12/16|c.1534G>A|p.Asp512Asn|1614/2402|1534/2076|512/691||,A|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript||n.*554G>A|||||1908|,A|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript||n.*468G>A|||||1851|,A|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript||n.*587G>A|||||1144|,A|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|7/9|n.1246G>A|||||| 22 35815831 . A G . . ANN=G|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript||n.*554A>G|||||3930|,G|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript||n.*468A>G|||||3873|,G|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript||n.*587A>G|||||3166|,G|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|13/16|c.1704-46A>G||||||,G|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|12/15|c.1575-46A>G||||||,G|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|7/8|n.1287-46A>G|||||| 22 35815852 . C T . . ANN=T|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript||n.*554C>T|||||3951|,T|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript||n.*468C>T|||||3894|,T|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript||n.*587C>T|||||3187|,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|13/16|c.1704-25C>T||||||,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|12/15|c.1575-25C>T||||||,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|7/8|n.1287-25C>T|||||| 22 35815873 . G T . . ANN=T|splice_region_variant&intron_variant|LOW|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|13/16|c.1704-4G>T||||||,T|splice_region_variant&intron_variant|LOW|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|12/15|c.1575-4G>T||||||,T|splice_region_variant&intron_variant|LOW|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|7/8|n.1287-4G>T||||||,T|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript||n.*554G>T|||||3972|,T|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript||n.*468G>T|||||3915|,T|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript||n.*587G>T|||||3208| 22 35815880 . G A . . ANN=A|synonymous_variant|LOW|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|14/17|c.1707G>A|p.Lys569Lys|1861/3534|1707/2205|569/734||,A|synonymous_variant|LOW|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|13/16|c.1578G>A|p.Lys526Lys|1658/2402|1578/2076|526/691||,A|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript||n.*554G>A|||||3979|,A|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript||n.*468G>A|||||3922|,A|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript||n.*587G>A|||||3215|,A|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|8/9|n.1290G>A|||||| 22 35815954 . G A . . ANN=A|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|14/17|c.1781G>A|p.Arg594His|1935/3534|1781/2205|594/734||,A|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|13/16|c.1652G>A|p.Arg551His|1732/2402|1652/2076|551/691||,A|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript||n.*554G>A|||||4053|,A|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript||n.*468G>A|||||3996|,A|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript||n.*587G>A|||||3289|,A|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|8/9|n.1364G>A|||||| 22 35815978 . G A . . ANN=A|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|14/17|c.1805G>A|p.Arg602His|1959/3534|1805/2205|602/734||,A|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|13/16|c.1676G>A|p.Arg559His|1756/2402|1676/2076|559/691||,A|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript||n.*554G>A|||||4077|,A|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript||n.*468G>A|||||4020|,A|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript||n.*587G>A|||||3313|,A|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|8/9|n.1388G>A|||||| 22 35815980 . C T . . ANN=T|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|14/17|c.1807C>T|p.Arg603Cys|1961/3534|1807/2205|603/734||,T|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|13/16|c.1678C>T|p.Arg560Cys|1758/2402|1678/2076|560/691||,T|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript||n.*554C>T|||||4079|,T|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript||n.*468C>T|||||4022|,T|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript||n.*587C>T|||||3315|,T|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|8/9|n.1390C>T|||||| 22 35816015 . C T . . ANN=T|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript||n.*554C>T|||||4114|,T|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript||n.*468C>T|||||4057|,T|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript||n.*587C>T|||||3350|,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|14/16|c.1832+10C>T||||||,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|13/15|c.1703+10C>T||||||,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|8/8|n.1415+10C>T|||||| 22 35817329 . G T . . ANN=T|synonymous_variant|LOW|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|15/17|c.1851G>T|p.Val617Val|2005/3534|1851/2205|617/734||,T|synonymous_variant|LOW|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|14/16|c.1722G>T|p.Val574Val|1802/2402|1722/2076|574/691||,T|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript||n.*587G>T|||||4664|,T|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|9/9|n.1434G>T|||||| 22 35817403 . G A . . ANN=A|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|15/17|c.1925G>A|p.Arg642Gln|2079/3534|1925/2205|642/734||,A|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|14/16|c.1796G>A|p.Arg599Gln|1876/2402|1796/2076|599/691||,A|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript||n.*587G>A|||||4738|,A|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|9/9|n.1508G>A|||||| 22 35817471 . C A . . ANN=A|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript||n.*587C>A|||||4806|,A|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|15/16|c.1975+18C>A||||||,A|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|14/15|c.1846+18C>A||||||,A|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|9/9|n.1576C>A|||||| 22 35819166 . T C . . ANN=C|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|15/16|c.1976-41T>C||||||,C|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|14/15|c.1847-41T>C||||||,C|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|9/9|n.3271T>C|||||| 22 35819180 . G A . . ANN=A|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|15/16|c.1976-27G>A||||||,A|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|14/15|c.1847-27G>A||||||,A|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|9/9|n.3285G>A|||||| 22 35819186 . C T . . ANN=T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|15/16|c.1976-21C>T||||||,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|14/15|c.1847-21C>T||||||,T|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|9/9|n.3291C>T|||||| 22 35819193 . C T . . ANN=T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|15/16|c.1976-14C>T||||||,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|14/15|c.1847-14C>T||||||,T|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|9/9|n.3298C>T|||||| 22 35819250 . C T . . ANN=T|synonymous_variant|LOW|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|16/17|c.2019C>T|p.Ser673Ser|2173/3534|2019/2205|673/734||,T|synonymous_variant|LOW|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|15/16|c.1890C>T|p.Ser630Ser|1970/2402|1890/2076|630/691||,T|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|9/9|n.3355C>T|||||| 22 35819284 . A G . . ANN=G|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|16/17|c.2053A>G|p.Ile685Val|2207/3534|2053/2205|685/734||,G|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|15/16|c.1924A>G|p.Ile642Val|2004/2402|1924/2076|642/691||,G|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|9/9|n.3389A>G|||||| 22 35819310 . C T . . ANN=T|synonymous_variant|LOW|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|16/17|c.2079C>T|p.Ser693Ser|2233/3534|2079/2205|693/734||,T|synonymous_variant|LOW|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|15/16|c.1950C>T|p.Ser650Ser|2030/2402|1950/2076|650/691||,T|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|9/9|n.3415C>T|||||| 22 35820152 . C A . . ANN=A|stop_gained|HIGH|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|17/17|c.2109C>A|p.Tyr703*|2263/3534|2109/2205|703/734||,A|stop_gained|HIGH|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|16/16|c.1980C>A|p.Tyr660*|2060/2402|1980/2076|660/691||,A|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|9/9|n.4257C>A|||||| 22 35820175 . T C . . ANN=C|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|17/17|c.2132T>C|p.Val711Ala|2286/3534|2132/2205|711/734||,C|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|16/16|c.2003T>C|p.Val668Ala|2083/2402|2003/2076|668/691||,C|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|9/9|n.4280T>C|||||| 22 35820195 . C T . . ANN=T|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|17/17|c.2152C>T|p.Arg718Cys|2306/3534|2152/2205|718/734||,T|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|16/16|c.2023C>T|p.Arg675Cys|2103/2402|2023/2076|675/691||,T|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|9/9|n.4300C>T|||||| 22 35820254 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|17/17|c.*6G>A|||||6|,A|3_prime_UTR_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|16/16|c.*6G>A|||||6|,A|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|9/9|n.4359G>A|||||| 22 35942878 . G A . . ANN=A|missense_variant|MODERATE|RASD2|ENSG00000100302|transcript|ENST00000216127|protein_coding|2/3|c.22G>A|p.Gly8Arg|664/3412|22/801|8/266|| 22 35947523 . C T . . ANN=T|intron_variant|MODIFIER|RASD2|ENSG00000100302|transcript|ENST00000216127|protein_coding|2/2|c.272-27C>T|||||| 22 35947576 . C T . . ANN=T|synonymous_variant|LOW|RASD2|ENSG00000100302|transcript|ENST00000216127|protein_coding|3/3|c.298C>T|p.Leu100Leu|940/3412|298/801|100/266|| 22 35947585 . C A . . ANN=A|synonymous_variant|LOW|RASD2|ENSG00000100302|transcript|ENST00000216127|protein_coding|3/3|c.307C>A|p.Arg103Arg|949/3412|307/801|103/266|| 22 35947908 . C T . . ANN=T|synonymous_variant|LOW|RASD2|ENSG00000100302|transcript|ENST00000216127|protein_coding|3/3|c.630C>T|p.Asp210Asp|1272/3412|630/801|210/266||,T|sequence_feature|LOW|RASD2|ENSG00000100302|interacting_region:Interaction_with_GNB1_GNB2_and_GNB3|ENST00000216127|protein_coding|3/3|c.630C>T|||||| 22 35947974 . G A . . ANN=A|synonymous_variant|LOW|RASD2|ENSG00000100302|transcript|ENST00000216127|protein_coding|3/3|c.696G>A|p.Ser232Ser|1338/3412|696/801|232/266||,A|sequence_feature|LOW|RASD2|ENSG00000100302|interacting_region:Interaction_with_GNB1_GNB2_and_GNB3|ENST00000216127|protein_coding|3/3|c.696G>A|||||| 22 35948082 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|RASD2|ENSG00000100302|transcript|ENST00000216127|protein_coding|3/3|c.*3G>A|||||3| 22 35948120 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|RASD2|ENSG00000100302|transcript|ENST00000216127|protein_coding|3/3|c.*41G>A|||||41| 22 36003390 . C T . . ANN=T|missense_variant|MODERATE|MB|ENSG00000198125|transcript|ENST00000359787|protein_coding|4/4|c.419G>A|p.Arg140Gln|591/1170|419/465|140/154||,T|missense_variant|MODERATE|MB|ENSG00000198125|transcript|ENST00000401702|protein_coding|3/3|c.254G>A|p.Arg85Gln|464/1043|254/300|85/99||,T|missense_variant|MODERATE|MB|ENSG00000198125|transcript|ENST00000397326|protein_coding|3/3|c.419G>A|p.Arg140Gln|618/1197|419/465|140/154||,T|missense_variant|MODERATE|MB|ENSG00000198125|transcript|ENST00000397328|protein_coding|4/4|c.419G>A|p.Arg140Gln|574/1153|419/465|140/154||,T|missense_variant|MODERATE|MB|ENSG00000198125|transcript|ENST00000406324|protein_coding|4/4|c.419G>A|p.Arg140Gln|511/582|419/465|140/154||,T|missense_variant|MODERATE|MB|ENSG00000198125|transcript|ENST00000443033|protein_coding|4/4|c.419G>A|p.Arg140Gln|638/648|419/429|140/142||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|MB|ENSG00000198125|helix|ENST00000406324|protein_coding|4/4|c.419G>A||||||,T|downstream_gene_variant|MODIFIER|MB|ENSG00000198125|transcript|ENST00000442617|protein_coding||c.*545G>A|||||32|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|MB|ENSG00000198125|transcript|ENST00000451685|protein_coding||c.*551G>A|||||3541|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|MB|ENSG00000198125|transcript|ENST00000447607|protein_coding||c.*515G>A|||||3541|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|MB|ENSG00000198125|transcript|ENST00000419229|protein_coding||c.*418G>A|||||3627|WARNING_TRANSCRIPT_INCOMPLETE 22 36003482 . C T . . ANN=T|synonymous_variant|LOW|MB|ENSG00000198125|transcript|ENST00000359787|protein_coding|4/4|c.327G>A|p.Ser109Ser|499/1170|327/465|109/154||,T|synonymous_variant|LOW|MB|ENSG00000198125|transcript|ENST00000401702|protein_coding|3/3|c.162G>A|p.Ser54Ser|372/1043|162/300|54/99||,T|synonymous_variant|LOW|MB|ENSG00000198125|transcript|ENST00000397326|protein_coding|3/3|c.327G>A|p.Ser109Ser|526/1197|327/465|109/154||,T|synonymous_variant|LOW|MB|ENSG00000198125|transcript|ENST00000397328|protein_coding|4/4|c.327G>A|p.Ser109Ser|482/1153|327/465|109/154||,T|synonymous_variant|LOW|MB|ENSG00000198125|transcript|ENST00000406324|protein_coding|4/4|c.327G>A|p.Ser109Ser|419/582|327/465|109/154||,T|synonymous_variant|LOW|MB|ENSG00000198125|transcript|ENST00000443033|protein_coding|4/4|c.327G>A|p.Ser109Ser|546/648|327/429|109/142||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|MB|ENSG00000198125|transcript|ENST00000442617|protein_coding|3/3|c.162G>A|p.Ser54Ser|485/545|162/222|54/73||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|MB|ENSG00000198125|helix|ENST00000406324|protein_coding|3/4|c.327G>A||||||,T|sequence_feature|LOW|MB|ENSG00000198125|helix|ENST00000406324|protein_coding|4/4|c.327G>A||||||,T|downstream_gene_variant|MODIFIER|MB|ENSG00000198125|transcript|ENST00000451685|protein_coding||c.*551G>A|||||3449|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|MB|ENSG00000198125|transcript|ENST00000447607|protein_coding||c.*515G>A|||||3449|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|MB|ENSG00000198125|transcript|ENST00000419229|protein_coding||c.*418G>A|||||3535|WARNING_TRANSCRIPT_INCOMPLETE 22 36006922 . T TG . . ANN=G|splice_region_variant&intron_variant|LOW|MB|ENSG00000198125|transcript|ENST00000359787|protein_coding|3/3|c.318+8dupC||||||,G|splice_region_variant&intron_variant|LOW|MB|ENSG00000198125|transcript|ENST00000401702|protein_coding|2/2|c.153+8dupC||||||,G|splice_region_variant&intron_variant|LOW|MB|ENSG00000198125|transcript|ENST00000397326|protein_coding|2/2|c.318+8dupC||||||,G|splice_region_variant&intron_variant|LOW|MB|ENSG00000198125|transcript|ENST00000397328|protein_coding|3/3|c.318+8dupC||||||,G|splice_region_variant&intron_variant|LOW|MB|ENSG00000198125|transcript|ENST00000406324|protein_coding|3/3|c.318+8dupC||||||,G|splice_region_variant&intron_variant|LOW|MB|ENSG00000198125|transcript|ENST00000443033|protein_coding|3/3|c.318+8dupC||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|splice_region_variant&intron_variant|LOW|MB|ENSG00000198125|transcript|ENST00000442617|protein_coding|2/2|c.153+8dupC||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|sequence_feature|LOW|MB|ENSG00000198125|helix|ENST00000406324|protein_coding|3/4|c.318+8dupC||||||,G|sequence_feature|LOW|MB|ENSG00000198125|helix|ENST00000406324|protein_coding|4/4|c.318+8dupC||||||,G|downstream_gene_variant|MODIFIER|MB|ENSG00000198125|transcript|ENST00000451685|protein_coding||c.*551dupC|||||8|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|MB|ENSG00000198125|transcript|ENST00000447607|protein_coding||c.*515dupC|||||8|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|MB|ENSG00000198125|transcript|ENST00000419229|protein_coding||c.*418dupC|||||94|WARNING_TRANSCRIPT_INCOMPLETE 22 36006923 . G GC . . ANN=C|splice_region_variant&intron_variant|LOW|MB|ENSG00000198125|transcript|ENST00000359787|protein_coding|3/3|c.318+7dupG||||||,C|splice_region_variant&intron_variant|LOW|MB|ENSG00000198125|transcript|ENST00000401702|protein_coding|2/2|c.153+7dupG||||||,C|splice_region_variant&intron_variant|LOW|MB|ENSG00000198125|transcript|ENST00000397326|protein_coding|2/2|c.318+7dupG||||||,C|splice_region_variant&intron_variant|LOW|MB|ENSG00000198125|transcript|ENST00000397328|protein_coding|3/3|c.318+7dupG||||||,C|splice_region_variant&intron_variant|LOW|MB|ENSG00000198125|transcript|ENST00000406324|protein_coding|3/3|c.318+7dupG||||||,C|splice_region_variant&intron_variant|LOW|MB|ENSG00000198125|transcript|ENST00000443033|protein_coding|3/3|c.318+7dupG||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|splice_region_variant&intron_variant|LOW|MB|ENSG00000198125|transcript|ENST00000442617|protein_coding|2/2|c.153+7dupG||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|sequence_feature|LOW|MB|ENSG00000198125|helix|ENST00000406324|protein_coding|3/4|c.318+7dupG||||||,C|sequence_feature|LOW|MB|ENSG00000198125|helix|ENST00000406324|protein_coding|4/4|c.318+7dupG||||||,C|downstream_gene_variant|MODIFIER|MB|ENSG00000198125|transcript|ENST00000451685|protein_coding||c.*551dupG|||||7|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|MB|ENSG00000198125|transcript|ENST00000447607|protein_coding||c.*515dupG|||||7|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|MB|ENSG00000198125|transcript|ENST00000419229|protein_coding||c.*418dupG|||||93|WARNING_TRANSCRIPT_INCOMPLETE 22 36006924 . C CA . . ANN=A|splice_region_variant&intron_variant|LOW|MB|ENSG00000198125|transcript|ENST00000359787|protein_coding|3/3|c.318+6_318+7insT||||||,A|splice_region_variant&intron_variant|LOW|MB|ENSG00000198125|transcript|ENST00000401702|protein_coding|2/2|c.153+6_153+7insT||||||,A|splice_region_variant&intron_variant|LOW|MB|ENSG00000198125|transcript|ENST00000397326|protein_coding|2/2|c.318+6_318+7insT||||||,A|splice_region_variant&intron_variant|LOW|MB|ENSG00000198125|transcript|ENST00000397328|protein_coding|3/3|c.318+6_318+7insT||||||,A|splice_region_variant&intron_variant|LOW|MB|ENSG00000198125|transcript|ENST00000406324|protein_coding|3/3|c.318+6_318+7insT||||||,A|splice_region_variant&intron_variant|LOW|MB|ENSG00000198125|transcript|ENST00000443033|protein_coding|3/3|c.318+6_318+7insT||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|splice_region_variant&intron_variant|LOW|MB|ENSG00000198125|transcript|ENST00000442617|protein_coding|2/2|c.153+6_153+7insT||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|MB|ENSG00000198125|helix|ENST00000406324|protein_coding|3/4|c.318+6_318+7insT||||||,A|sequence_feature|LOW|MB|ENSG00000198125|helix|ENST00000406324|protein_coding|4/4|c.318+6_318+7insT||||||,A|downstream_gene_variant|MODIFIER|MB|ENSG00000198125|transcript|ENST00000451685|protein_coding||c.*551_*551insT|||||6|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|MB|ENSG00000198125|transcript|ENST00000447607|protein_coding||c.*515_*515insT|||||6|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|MB|ENSG00000198125|transcript|ENST00000419229|protein_coding||c.*418_*418insT|||||92|WARNING_TRANSCRIPT_INCOMPLETE 22 36006952 . C T . . ANN=T|synonymous_variant|LOW|MB|ENSG00000198125|transcript|ENST00000359787|protein_coding|3/4|c.297G>A|p.Lys99Lys|469/1170|297/465|99/154||,T|synonymous_variant|LOW|MB|ENSG00000198125|transcript|ENST00000401702|protein_coding|2/3|c.132G>A|p.Lys44Lys|342/1043|132/300|44/99||,T|synonymous_variant|LOW|MB|ENSG00000198125|transcript|ENST00000397326|protein_coding|2/3|c.297G>A|p.Lys99Lys|496/1197|297/465|99/154||,T|synonymous_variant|LOW|MB|ENSG00000198125|transcript|ENST00000397328|protein_coding|3/4|c.297G>A|p.Lys99Lys|452/1153|297/465|99/154||,T|synonymous_variant|LOW|MB|ENSG00000198125|transcript|ENST00000406324|protein_coding|3/4|c.297G>A|p.Lys99Lys|389/582|297/465|99/154||,T|synonymous_variant|LOW|MB|ENSG00000198125|transcript|ENST00000443033|protein_coding|3/4|c.297G>A|p.Lys99Lys|516/648|297/429|99/142||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|MB|ENSG00000198125|transcript|ENST00000442617|protein_coding|2/3|c.132G>A|p.Lys44Lys|455/545|132/222|44/73||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|MB|ENSG00000198125|transcript|ENST00000451685|protein_coding|3/3|c.297G>A|p.Lys99Lys|530/551|297/318|99/105||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|MB|ENSG00000198125|transcript|ENST00000447607|protein_coding|4/4|c.297G>A|p.Lys99Lys|494/515|297/318|99/105||WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|MB|ENSG00000198125|transcript|ENST00000419229|protein_coding||c.*418G>A|||||65|WARNING_TRANSCRIPT_INCOMPLETE 22 36007037 . G T . . ANN=T|missense_variant|MODERATE|MB|ENSG00000198125|transcript|ENST00000359787|protein_coding|3/4|c.212C>A|p.Thr71Asn|384/1170|212/465|71/154||,T|missense_variant|MODERATE|MB|ENSG00000198125|transcript|ENST00000401702|protein_coding|2/3|c.47C>A|p.Thr16Asn|257/1043|47/300|16/99||,T|missense_variant|MODERATE|MB|ENSG00000198125|transcript|ENST00000397326|protein_coding|2/3|c.212C>A|p.Thr71Asn|411/1197|212/465|71/154||,T|missense_variant|MODERATE|MB|ENSG00000198125|transcript|ENST00000397328|protein_coding|3/4|c.212C>A|p.Thr71Asn|367/1153|212/465|71/154||,T|missense_variant|MODERATE|MB|ENSG00000198125|transcript|ENST00000406324|protein_coding|3/4|c.212C>A|p.Thr71Asn|304/582|212/465|71/154||,T|missense_variant|MODERATE|MB|ENSG00000198125|transcript|ENST00000443033|protein_coding|3/4|c.212C>A|p.Thr71Asn|431/648|212/429|71/142||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|MB|ENSG00000198125|transcript|ENST00000442617|protein_coding|2/3|c.47C>A|p.Thr16Asn|370/545|47/222|16/73||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|MB|ENSG00000198125|transcript|ENST00000451685|protein_coding|3/3|c.212C>A|p.Thr71Asn|445/551|212/318|71/105||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|MB|ENSG00000198125|transcript|ENST00000447607|protein_coding|4/4|c.212C>A|p.Thr71Asn|409/515|212/318|71/105||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|MB|ENSG00000198125|transcript|ENST00000419229|protein_coding|4/4|c.212C>A|p.Thr71Asn|398/418|212/232|71/76||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|MB|ENSG00000198125|helix|ENST00000406324|protein_coding|3/4|c.212C>A|||||| 22 36007045 . G A . . ANN=A|synonymous_variant|LOW|MB|ENSG00000198125|transcript|ENST00000359787|protein_coding|3/4|c.204C>T|p.Thr68Thr|376/1170|204/465|68/154||,A|synonymous_variant|LOW|MB|ENSG00000198125|transcript|ENST00000401702|protein_coding|2/3|c.39C>T|p.Thr13Thr|249/1043|39/300|13/99||,A|synonymous_variant|LOW|MB|ENSG00000198125|transcript|ENST00000397326|protein_coding|2/3|c.204C>T|p.Thr68Thr|403/1197|204/465|68/154||,A|synonymous_variant|LOW|MB|ENSG00000198125|transcript|ENST00000397328|protein_coding|3/4|c.204C>T|p.Thr68Thr|359/1153|204/465|68/154||,A|synonymous_variant|LOW|MB|ENSG00000198125|transcript|ENST00000406324|protein_coding|3/4|c.204C>T|p.Thr68Thr|296/582|204/465|68/154||,A|synonymous_variant|LOW|MB|ENSG00000198125|transcript|ENST00000443033|protein_coding|3/4|c.204C>T|p.Thr68Thr|423/648|204/429|68/142||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|MB|ENSG00000198125|transcript|ENST00000442617|protein_coding|2/3|c.39C>T|p.Thr13Thr|362/545|39/222|13/73||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|MB|ENSG00000198125|transcript|ENST00000451685|protein_coding|3/3|c.204C>T|p.Thr68Thr|437/551|204/318|68/105||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|MB|ENSG00000198125|transcript|ENST00000447607|protein_coding|4/4|c.204C>T|p.Thr68Thr|401/515|204/318|68/105||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|MB|ENSG00000198125|transcript|ENST00000419229|protein_coding|4/4|c.204C>T|p.Thr68Thr|390/418|204/232|68/76||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|MB|ENSG00000198125|helix|ENST00000406324|protein_coding|3/4|c.204C>T|||||| 22 36007075 . C T . . ANN=T|synonymous_variant|LOW|MB|ENSG00000198125|transcript|ENST00000359787|protein_coding|3/4|c.174G>A|p.Ala58Ala|346/1170|174/465|58/154||,T|synonymous_variant|LOW|MB|ENSG00000198125|transcript|ENST00000401702|protein_coding|2/3|c.9G>A|p.Ala3Ala|219/1043|9/300|3/99||,T|synonymous_variant|LOW|MB|ENSG00000198125|transcript|ENST00000397326|protein_coding|2/3|c.174G>A|p.Ala58Ala|373/1197|174/465|58/154||,T|synonymous_variant|LOW|MB|ENSG00000198125|transcript|ENST00000397328|protein_coding|3/4|c.174G>A|p.Ala58Ala|329/1153|174/465|58/154||,T|synonymous_variant|LOW|MB|ENSG00000198125|transcript|ENST00000406324|protein_coding|3/4|c.174G>A|p.Ala58Ala|266/582|174/465|58/154||,T|synonymous_variant|LOW|MB|ENSG00000198125|transcript|ENST00000443033|protein_coding|3/4|c.174G>A|p.Ala58Ala|393/648|174/429|58/142||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|MB|ENSG00000198125|transcript|ENST00000442617|protein_coding|2/3|c.9G>A|p.Ala3Ala|332/545|9/222|3/73||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|MB|ENSG00000198125|transcript|ENST00000451685|protein_coding|3/3|c.174G>A|p.Ala58Ala|407/551|174/318|58/105||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|MB|ENSG00000198125|transcript|ENST00000447607|protein_coding|4/4|c.174G>A|p.Ala58Ala|371/515|174/318|58/105||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|MB|ENSG00000198125|transcript|ENST00000419229|protein_coding|4/4|c.174G>A|p.Ala58Ala|360/418|174/232|58/76||WARNING_TRANSCRIPT_INCOMPLETE 22 36013290 . G A . . ANN=A|synonymous_variant|LOW|MB|ENSG00000198125|transcript|ENST00000359787|protein_coding|2/4|c.15C>T|p.Asp5Asp|187/1170|15/465|5/154||,A|synonymous_variant|LOW|MB|ENSG00000198125|transcript|ENST00000397326|protein_coding|1/3|c.15C>T|p.Asp5Asp|214/1197|15/465|5/154||,A|synonymous_variant|LOW|MB|ENSG00000198125|transcript|ENST00000397328|protein_coding|2/4|c.15C>T|p.Asp5Asp|170/1153|15/465|5/154||,A|synonymous_variant|LOW|MB|ENSG00000198125|transcript|ENST00000406324|protein_coding|2/4|c.15C>T|p.Asp5Asp|107/582|15/465|5/154||,A|synonymous_variant|LOW|MB|ENSG00000198125|transcript|ENST00000443033|protein_coding|2/4|c.15C>T|p.Asp5Asp|234/648|15/429|5/142||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|MB|ENSG00000198125|transcript|ENST00000451685|protein_coding|2/3|c.15C>T|p.Asp5Asp|248/551|15/318|5/105||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|MB|ENSG00000198125|transcript|ENST00000447607|protein_coding|3/4|c.15C>T|p.Asp5Asp|212/515|15/318|5/105||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|MB|ENSG00000198125|transcript|ENST00000419229|protein_coding|3/4|c.15C>T|p.Asp5Asp|201/418|15/232|5/76||WARNING_TRANSCRIPT_INCOMPLETE,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|MB|ENSG00000198125|transcript|ENST00000442617|protein_coding|1/3|c.-237C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|MB|ENSG00000198125|helix|ENST00000406324|protein_coding|2/4|c.15C>T||||||,A|5_prime_UTR_variant|MODIFIER|MB|ENSG00000198125|transcript|ENST00000442617|protein_coding|1/3|c.-237C>T|||||6207|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|MB|ENSG00000198125|transcript|ENST00000401702|protein_coding||c.-211C>T|||||1530| 22 36013312 . T A . . ANN=A|splice_region_variant|LOW|MB|ENSG00000198125|transcript|ENST00000359787|protein_coding|2/4|c.-8A>T||||||,A|splice_region_variant|LOW|MB|ENSG00000198125|transcript|ENST00000397328|protein_coding|2/4|c.-8A>T||||||,A|splice_region_variant|LOW|MB|ENSG00000198125|transcript|ENST00000406324|protein_coding|2/4|c.-8A>T||||||,A|splice_region_variant|LOW|MB|ENSG00000198125|transcript|ENST00000443033|protein_coding|2/4|c.-8A>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|splice_region_variant|LOW|MB|ENSG00000198125|transcript|ENST00000451685|protein_coding|2/3|c.-8A>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|splice_region_variant|LOW|MB|ENSG00000198125|transcript|ENST00000447607|protein_coding|3/4|c.-8A>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|splice_region_variant|LOW|MB|ENSG00000198125|transcript|ENST00000419229|protein_coding|3/4|c.-8A>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|5_prime_UTR_variant|MODIFIER|MB|ENSG00000198125|transcript|ENST00000359787|protein_coding|2/4|c.-8A>T|||||8|,A|5_prime_UTR_variant|MODIFIER|MB|ENSG00000198125|transcript|ENST00000397326|protein_coding|1/3|c.-8A>T|||||8|,A|5_prime_UTR_variant|MODIFIER|MB|ENSG00000198125|transcript|ENST00000397328|protein_coding|2/4|c.-8A>T|||||8|,A|5_prime_UTR_variant|MODIFIER|MB|ENSG00000198125|transcript|ENST00000406324|protein_coding|2/4|c.-8A>T|||||8|,A|5_prime_UTR_variant|MODIFIER|MB|ENSG00000198125|transcript|ENST00000443033|protein_coding|2/4|c.-8A>T|||||8|WARNING_TRANSCRIPT_NO_STOP_CODON,A|5_prime_UTR_variant|MODIFIER|MB|ENSG00000198125|transcript|ENST00000442617|protein_coding|1/3|c.-259A>T|||||6229|WARNING_TRANSCRIPT_NO_STOP_CODON,A|5_prime_UTR_variant|MODIFIER|MB|ENSG00000198125|transcript|ENST00000451685|protein_coding|2/3|c.-8A>T|||||8|WARNING_TRANSCRIPT_NO_STOP_CODON,A|5_prime_UTR_variant|MODIFIER|MB|ENSG00000198125|transcript|ENST00000447607|protein_coding|3/4|c.-8A>T|||||8|WARNING_TRANSCRIPT_NO_STOP_CODON,A|5_prime_UTR_variant|MODIFIER|MB|ENSG00000198125|transcript|ENST00000419229|protein_coding|3/4|c.-8A>T|||||8|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|MB|ENSG00000198125|transcript|ENST00000401702|protein_coding||c.-211A>T|||||1552| 22 36054612 . T G . . ANN=G|intron_variant|MODIFIER|APOL6|ENSG00000221963|transcript|ENST00000409652|protein_coding|2/2|c.51-50T>G|||||| 22 36054741 . A G . . ANN=G|missense_variant|MODERATE|APOL6|ENSG00000221963|transcript|ENST00000409652|protein_coding|3/3|c.130A>G|p.Arg44Gly|406/10121|130/1032|44/343|| 22 36054806 . C T . . ANN=T|synonymous_variant|LOW|APOL6|ENSG00000221963|transcript|ENST00000409652|protein_coding|3/3|c.195C>T|p.Asp65Asp|471/10121|195/1032|65/343|| 22 36054846 . A G . . ANN=G|missense_variant|MODERATE|APOL6|ENSG00000221963|transcript|ENST00000409652|protein_coding|3/3|c.235A>G|p.Met79Val|511/10121|235/1032|79/343|| 22 36054862 . C T . . ANN=T|missense_variant|MODERATE|APOL6|ENSG00000221963|transcript|ENST00000409652|protein_coding|3/3|c.251C>T|p.Thr84Ile|527/10121|251/1032|84/343|| 22 36054874 . C G . . ANN=G|missense_variant|MODERATE|APOL6|ENSG00000221963|transcript|ENST00000409652|protein_coding|3/3|c.263C>G|p.Ser88Cys|539/10121|263/1032|88/343|| 22 36054944 . C T . . ANN=T|synonymous_variant|LOW|APOL6|ENSG00000221963|transcript|ENST00000409652|protein_coding|3/3|c.333C>T|p.Thr111Thr|609/10121|333/1032|111/343|| 22 36054945 . G A . . ANN=A|missense_variant|MODERATE|APOL6|ENSG00000221963|transcript|ENST00000409652|protein_coding|3/3|c.334G>A|p.Ala112Thr|610/10121|334/1032|112/343|| 22 36054997 . C T . . ANN=T|missense_variant|MODERATE|APOL6|ENSG00000221963|transcript|ENST00000409652|protein_coding|3/3|c.386C>T|p.Thr129Met|662/10121|386/1032|129/343|| 22 36055005 . C T . . ANN=T|missense_variant|MODERATE|APOL6|ENSG00000221963|transcript|ENST00000409652|protein_coding|3/3|c.394C>T|p.Arg132Cys|670/10121|394/1032|132/343|| 22 36055033 . G A . . ANN=A|missense_variant|MODERATE|APOL6|ENSG00000221963|transcript|ENST00000409652|protein_coding|3/3|c.422G>A|p.Arg141Gln|698/10121|422/1032|141/343|| 22 36055036 . C T . . ANN=T|missense_variant|MODERATE|APOL6|ENSG00000221963|transcript|ENST00000409652|protein_coding|3/3|c.425C>T|p.Ala142Val|701/10121|425/1032|142/343|| 22 36055077 . G A . . ANN=A|missense_variant|MODERATE|APOL6|ENSG00000221963|transcript|ENST00000409652|protein_coding|3/3|c.466G>A|p.Asp156Asn|742/10121|466/1032|156/343|| 22 36055130 . T A . . ANN=A|missense_variant|MODERATE|APOL6|ENSG00000221963|transcript|ENST00000409652|protein_coding|3/3|c.519T>A|p.Asn173Lys|795/10121|519/1032|173/343|| 22 36055141 . C A . . ANN=A|missense_variant|MODERATE|APOL6|ENSG00000221963|transcript|ENST00000409652|protein_coding|3/3|c.530C>A|p.Thr177Asn|806/10121|530/1032|177/343|| 22 36055164 . G A . . ANN=A|missense_variant|MODERATE|APOL6|ENSG00000221963|transcript|ENST00000409652|protein_coding|3/3|c.553G>A|p.Val185Ile|829/10121|553/1032|185/343|| 22 36055218 . C T . . ANN=T|missense_variant|MODERATE|APOL6|ENSG00000221963|transcript|ENST00000409652|protein_coding|3/3|c.607C>T|p.Arg203Cys|883/10121|607/1032|203/343|| 22 36055255 . G A . . ANN=A|missense_variant|MODERATE|APOL6|ENSG00000221963|transcript|ENST00000409652|protein_coding|3/3|c.644G>A|p.Arg215His|920/10121|644/1032|215/343|| 22 36055265 . G A . . ANN=A|synonymous_variant|LOW|APOL6|ENSG00000221963|transcript|ENST00000409652|protein_coding|3/3|c.654G>A|p.Val218Val|930/10121|654/1032|218/343|| 22 36055281 . G A . . ANN=A|missense_variant|MODERATE|APOL6|ENSG00000221963|transcript|ENST00000409652|protein_coding|3/3|c.670G>A|p.Gly224Arg|946/10121|670/1032|224/343|| 22 36055406 . A C . . ANN=C|synonymous_variant|LOW|APOL6|ENSG00000221963|transcript|ENST00000409652|protein_coding|3/3|c.795A>C|p.Thr265Thr|1071/10121|795/1032|265/343|| 22 36055415 . G A . . ANN=A|synonymous_variant|LOW|APOL6|ENSG00000221963|transcript|ENST00000409652|protein_coding|3/3|c.804G>A|p.Ala268Ala|1080/10121|804/1032|268/343|| 22 36055428 . G A . . ANN=A|missense_variant|MODERATE|APOL6|ENSG00000221963|transcript|ENST00000409652|protein_coding|3/3|c.817G>A|p.Ala273Thr|1093/10121|817/1032|273/343|| 22 36113928 . G T . . ANN=T|missense_variant|MODERATE|APOL5|ENSG00000128313|transcript|ENST00000249044|protein_coding|1/5|c.10G>T|p.Gly4Cys|10/1438|10/1302|4/433|| 22 36116565 . G A . . ANN=A|intron_variant|MODIFIER|APOL5|ENSG00000128313|transcript|ENST00000249044|protein_coding|1/4|c.56-50G>A|||||| 22 36116593 . C T . . ANN=T|intron_variant|MODIFIER|APOL5|ENSG00000128313|transcript|ENST00000249044|protein_coding|1/4|c.56-22C>T|||||| 22 36116618 . TG T . . ANN=|frameshift_variant|HIGH|APOL5|ENSG00000128313|transcript|ENST00000249044|protein_coding|2/5|c.62delG|p.Gly21fs|62/1438|62/1302|21/433||INFO_REALIGN_3_PRIME 22 36116661 . C T . . ANN=T|synonymous_variant|LOW|APOL5|ENSG00000128313|transcript|ENST00000249044|protein_coding|2/5|c.102C>T|p.Tyr34Tyr|102/1438|102/1302|34/433|| 22 36116694 . T G . . ANN=G|synonymous_variant|LOW|APOL5|ENSG00000128313|transcript|ENST00000249044|protein_coding|2/5|c.135T>G|p.Pro45Pro|135/1438|135/1302|45/433|| 22 36116702 . G A . . ANN=A|splice_donor_variant&intron_variant|HIGH|APOL5|ENSG00000128313|transcript|ENST00000249044|protein_coding|2/4|c.142+1G>A||||||;LOF=(APOL5|ENSG00000128313|1|1.00) 22 36122265 . C T . . ANN=T|synonymous_variant|LOW|APOL5|ENSG00000128313|transcript|ENST00000249044|protein_coding|3/5|c.150C>T|p.Leu50Leu|150/1438|150/1302|50/433|| 22 36122356 . G A . . ANN=A|missense_variant|MODERATE|APOL5|ENSG00000128313|transcript|ENST00000249044|protein_coding|3/5|c.241G>A|p.Glu81Lys|241/1438|241/1302|81/433|| 22 36122365 . C T . . ANN=T|stop_gained|HIGH|APOL5|ENSG00000128313|transcript|ENST00000249044|protein_coding|3/5|c.250C>T|p.Arg84*|250/1438|250/1302|84/433||;LOF=(APOL5|ENSG00000128313|1|1.00);NMD=(APOL5|ENSG00000128313|1|1.00) 22 36122380 . T A . . ANN=A|missense_variant|MODERATE|APOL5|ENSG00000128313|transcript|ENST00000249044|protein_coding|3/5|c.265T>A|p.Ser89Thr|265/1438|265/1302|89/433|| 22 36122414 . A C . . ANN=C|missense_variant|MODERATE|APOL5|ENSG00000128313|transcript|ENST00000249044|protein_coding|3/5|c.299A>C|p.Lys100Thr|299/1438|299/1302|100/433|| 22 36122427 . A G . . ANN=G|synonymous_variant|LOW|APOL5|ENSG00000128313|transcript|ENST00000249044|protein_coding|3/5|c.312A>G|p.Ser104Ser|312/1438|312/1302|104/433|| 22 36122433 . T C . . ANN=C|synonymous_variant|LOW|APOL5|ENSG00000128313|transcript|ENST00000249044|protein_coding|3/5|c.318T>C|p.Phe106Phe|318/1438|318/1302|106/433|| 22 36122501 . C A . . ANN=A|missense_variant|MODERATE|APOL5|ENSG00000128313|transcript|ENST00000249044|protein_coding|3/5|c.386C>A|p.Thr129Asn|386/1438|386/1302|129/433|| 22 36122517 . T C . . ANN=C|synonymous_variant|LOW|APOL5|ENSG00000128313|transcript|ENST00000249044|protein_coding|3/5|c.402T>C|p.Leu134Leu|402/1438|402/1302|134/433|| 22 36122724 . C A . . ANN=A|missense_variant|MODERATE|APOL5|ENSG00000128313|transcript|ENST00000249044|protein_coding|3/5|c.609C>A|p.Ser203Arg|609/1438|609/1302|203/433|| 22 36122751 . T G . . ANN=G|missense_variant|MODERATE|APOL5|ENSG00000128313|transcript|ENST00000249044|protein_coding|3/5|c.636T>G|p.His212Gln|636/1438|636/1302|212/433|| 22 36122811 . G A . . ANN=A|synonymous_variant|LOW|APOL5|ENSG00000128313|transcript|ENST00000249044|protein_coding|3/5|c.696G>A|p.Lys232Lys|696/1438|696/1302|232/433|| 22 36122930 . C T . . ANN=T|missense_variant|MODERATE|APOL5|ENSG00000128313|transcript|ENST00000249044|protein_coding|3/5|c.815C>T|p.Thr272Met|815/1438|815/1302|272/433|| 22 36123083 . C T . . ANN=T|missense_variant|MODERATE|APOL5|ENSG00000128313|transcript|ENST00000249044|protein_coding|3/5|c.968C>T|p.Thr323Met|968/1438|968/1302|323/433|| 22 36123178 . A G . . ANN=G|missense_variant|MODERATE|APOL5|ENSG00000128313|transcript|ENST00000249044|protein_coding|3/5|c.1063A>G|p.Ser355Gly|1063/1438|1063/1302|355/433|| 22 36123215 . G A . . ANN=A|missense_variant|MODERATE|APOL5|ENSG00000128313|transcript|ENST00000249044|protein_coding|3/5|c.1100G>A|p.Arg367Gln|1100/1438|1100/1302|367/433|| 22 36123268 . G A . . ANN=A|intron_variant|MODIFIER|APOL5|ENSG00000128313|transcript|ENST00000249044|protein_coding|3/4|c.1126+27G>A|||||| 22 36123276 . G A . . ANN=A|intron_variant|MODIFIER|APOL5|ENSG00000128313|transcript|ENST00000249044|protein_coding|3/4|c.1126+35G>A|||||| 22 36124810 . G T . . ANN=T|missense_variant|MODERATE|APOL5|ENSG00000128313|transcript|ENST00000249044|protein_coding|4/5|c.1167G>T|p.Gln389His|1167/1438|1167/1302|389/433|| 22 36124833 . C T . . ANN=T|missense_variant|MODERATE|APOL5|ENSG00000128313|transcript|ENST00000249044|protein_coding|4/5|c.1190C>T|p.Ala397Val|1190/1438|1190/1302|397/433|| 22 36124860 . C G . . ANN=G|missense_variant|MODERATE|APOL5|ENSG00000128313|transcript|ENST00000249044|protein_coding|4/5|c.1217C>G|p.Ser406Cys|1217/1438|1217/1302|406/433|| 22 36124889 . GC G . . ANN=|frameshift_variant|HIGH|APOL5|ENSG00000128313|transcript|ENST00000249044|protein_coding|4/5|c.1250delC|p.Pro417fs|1250/1438|1250/1302|417/433||INFO_REALIGN_3_PRIME 22 36124988 . C A . . ANN=A|intron_variant|MODIFIER|APOL5|ENSG00000128313|transcript|ENST00000249044|protein_coding|4/4|c.*6+37C>A|||||| 22 36140215 . TG T . . ANN=|3_prime_UTR_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000405409|protein_coding|12/12|c.*26delC|||||26|,|3_prime_UTR_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000414461|protein_coding|12/12|c.*26delC|||||26|,|3_prime_UTR_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000449924|protein_coding|13/13|c.*36delC|||||36|,|3_prime_UTR_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000262829|protein_coding|12/12|c.*36delC|||||36|,|3_prime_UTR_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000397303|protein_coding|12/12|c.*36delC|||||36|,|3_prime_UTR_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000359369|protein_coding|14/14|c.*26delC|||||26|,|3_prime_UTR_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000416721|protein_coding|13/13|c.*36delC|||||36|,|3_prime_UTR_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000495377|protein_coding|10/10|c.*36delC|||||36|WARNING_TRANSCRIPT_NO_START_CODON,|downstream_gene_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000438146|protein_coding||c.*1356delC|||||36|,|non_coding_exon_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000463509|retained_intron|3/3|n.2314delC|||||| 22 36141926 . G A . . ANN=A|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000438146|protein_coding|11/14|c.1311+44C>T||||||,A|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000438146|protein_coding|14/14|c.1311+44C>T||||||,A|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000438146|protein_coding|10/14|c.1311+44C>T||||||,A|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000438146|protein_coding|13/14|c.1311+44C>T||||||,A|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000438146|protein_coding|12/14|c.1311+44C>T||||||,A|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000449924|protein_coding|13/13|c.1098+44C>T||||||,A|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000449924|protein_coding|10/13|c.1098+44C>T||||||,A|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000449924|protein_coding|9/13|c.1098+44C>T||||||,A|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000449924|protein_coding|12/13|c.1098+44C>T||||||,A|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000449924|protein_coding|11/13|c.1098+44C>T||||||,A|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000262829|protein_coding|9/12|c.1032+44C>T||||||,A|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000262829|protein_coding|8/12|c.1032+44C>T||||||,A|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000262829|protein_coding|11/12|c.1032+44C>T||||||,A|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000262829|protein_coding|12/12|c.1032+44C>T||||||,A|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000262829|protein_coding|10/12|c.1032+44C>T||||||,A|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000416721|protein_coding|10/13|c.1086+44C>T||||||,A|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000416721|protein_coding|13/13|c.1086+44C>T||||||,A|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000416721|protein_coding|9/13|c.1086+44C>T||||||,A|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000416721|protein_coding|12/13|c.1086+44C>T||||||,A|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000416721|protein_coding|11/13|c.1086+44C>T||||||,A|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000438146|protein_coding|13/13|c.1311+44C>T||||||,A|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000405409|protein_coding|11/11|c.1049+44C>T||||||,A|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000414461|protein_coding|11/11|c.1058+44C>T||||||,A|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000449924|protein_coding|12/12|c.1098+44C>T||||||,A|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000262829|protein_coding|11/11|c.1032+44C>T||||||,A|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000397303|protein_coding|11/11|c.1029+44C>T||||||,A|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000359369|protein_coding|13/13|c.1058+44C>T||||||,A|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000463509|retained_intron|2/2|n.2233+44C>T||||||,A|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000416721|protein_coding|12/12|c.1086+44C>T||||||,A|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000495377|protein_coding|9/9|c.645+44C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 36142076 . A G . . ANN=G|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000438146|protein_coding|11/14|c.1239-34T>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000438146|protein_coding|14/14|c.1239-34T>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000438146|protein_coding|10/14|c.1239-34T>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000438146|protein_coding|13/14|c.1239-34T>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000438146|protein_coding|12/14|c.1239-34T>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000449924|protein_coding|13/13|c.1026-34T>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000449924|protein_coding|10/13|c.1026-34T>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000449924|protein_coding|9/13|c.1026-34T>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000449924|protein_coding|12/13|c.1026-34T>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000449924|protein_coding|11/13|c.1026-34T>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000262829|protein_coding|9/12|c.960-34T>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000262829|protein_coding|8/12|c.960-34T>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000262829|protein_coding|11/12|c.960-34T>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000262829|protein_coding|12/12|c.960-34T>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000262829|protein_coding|10/12|c.960-34T>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000416721|protein_coding|10/13|c.1014-34T>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000416721|protein_coding|13/13|c.1014-34T>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000416721|protein_coding|9/13|c.1014-34T>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000416721|protein_coding|12/13|c.1014-34T>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000416721|protein_coding|11/13|c.1014-34T>C||||||,G|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000438146|protein_coding|12/13|c.1239-34T>C||||||,G|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000405409|protein_coding|10/11|c.977-34T>C||||||,G|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000414461|protein_coding|10/11|c.986-34T>C||||||,G|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000449924|protein_coding|11/12|c.1026-34T>C||||||,G|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000262829|protein_coding|10/11|c.960-34T>C||||||,G|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000397303|protein_coding|10/11|c.957-34T>C||||||,G|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000359369|protein_coding|12/13|c.986-34T>C||||||,G|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000463509|retained_intron|1/2|n.2161-34T>C||||||,G|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000416721|protein_coding|11/12|c.1014-34T>C||||||,G|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000495377|protein_coding|8/9|c.573-34T>C||||||WARNING_TRANSCRIPT_NO_START_CODON 22 36155894 . C T . . ANN=T|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000438146|protein_coding|11/14|c.1109+41G>A||||||,T|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000438146|protein_coding|14/14|c.1109+41G>A||||||,T|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000438146|protein_coding|10/14|c.1109+41G>A||||||,T|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000438146|protein_coding|13/14|c.1109+41G>A||||||,T|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000438146|protein_coding|12/14|c.1109+41G>A||||||,T|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000449924|protein_coding|13/13|c.896+41G>A||||||,T|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000449924|protein_coding|10/13|c.896+41G>A||||||,T|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000449924|protein_coding|9/13|c.896+41G>A||||||,T|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000449924|protein_coding|12/13|c.896+41G>A||||||,T|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000449924|protein_coding|11/13|c.896+41G>A||||||,T|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000262829|protein_coding|9/12|c.830+41G>A||||||,T|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000262829|protein_coding|8/12|c.830+41G>A||||||,T|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000262829|protein_coding|11/12|c.830+41G>A||||||,T|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000262829|protein_coding|12/12|c.830+41G>A||||||,T|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000262829|protein_coding|10/12|c.830+41G>A||||||,T|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000416721|protein_coding|10/13|c.884+41G>A||||||,T|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000416721|protein_coding|13/13|c.884+41G>A||||||,T|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000416721|protein_coding|9/13|c.884+41G>A||||||,T|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000416721|protein_coding|12/13|c.884+41G>A||||||,T|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000416721|protein_coding|11/13|c.884+41G>A||||||,T|downstream_gene_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000473487|protein_coding||c.*789G>A|||||163|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000438146|protein_coding|10/13|c.1109+41G>A||||||,T|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000405409|protein_coding|9/11|c.887+41G>A||||||,T|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000414461|protein_coding|9/11|c.896+41G>A||||||,T|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000449924|protein_coding|9/12|c.896+41G>A||||||,T|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000262829|protein_coding|8/11|c.830+41G>A||||||,T|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000397303|protein_coding|8/11|c.827+41G>A||||||,T|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000359369|protein_coding|9/13|c.824+41G>A||||||,T|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000416721|protein_coding|9/12|c.884+41G>A||||||,T|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000495377|protein_coding|6/9|c.440+41G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 36155901 . T C . . ANN=C|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000438146|protein_coding|11/14|c.1109+34A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000438146|protein_coding|14/14|c.1109+34A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000438146|protein_coding|10/14|c.1109+34A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000438146|protein_coding|13/14|c.1109+34A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000438146|protein_coding|12/14|c.1109+34A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000449924|protein_coding|13/13|c.896+34A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000449924|protein_coding|10/13|c.896+34A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000449924|protein_coding|9/13|c.896+34A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000449924|protein_coding|12/13|c.896+34A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000449924|protein_coding|11/13|c.896+34A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000262829|protein_coding|9/12|c.830+34A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000262829|protein_coding|8/12|c.830+34A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000262829|protein_coding|11/12|c.830+34A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000262829|protein_coding|12/12|c.830+34A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000262829|protein_coding|10/12|c.830+34A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000416721|protein_coding|10/13|c.884+34A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000416721|protein_coding|13/13|c.884+34A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000416721|protein_coding|9/13|c.884+34A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000416721|protein_coding|12/13|c.884+34A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|compositionally_biased_region:Ala-rich|ENST00000416721|protein_coding|11/13|c.884+34A>G||||||,C|downstream_gene_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000473487|protein_coding||c.*789A>G|||||156|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000438146|protein_coding|10/13|c.1109+34A>G||||||,C|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000405409|protein_coding|9/11|c.887+34A>G||||||,C|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000414461|protein_coding|9/11|c.896+34A>G||||||,C|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000449924|protein_coding|9/12|c.896+34A>G||||||,C|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000262829|protein_coding|8/11|c.830+34A>G||||||,C|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000397303|protein_coding|8/11|c.827+34A>G||||||,C|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000359369|protein_coding|9/13|c.824+34A>G||||||,C|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000416721|protein_coding|9/12|c.884+34A>G||||||,C|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000495377|protein_coding|6/9|c.440+34A>G||||||WARNING_TRANSCRIPT_NO_START_CODON 22 36156071 . A C . . ANN=C|missense_variant|MODERATE|RBFOX2|ENSG00000100320|transcript|ENST00000438146|protein_coding|10/14|c.973T>G|p.Leu325Val|973/1356|973/1356|325/451||,C|missense_variant|MODERATE|RBFOX2|ENSG00000100320|transcript|ENST00000414461|protein_coding|9/12|c.760T>G|p.Leu254Val|760/1706|760/1113|254/370||,C|missense_variant|MODERATE|RBFOX2|ENSG00000100320|transcript|ENST00000449924|protein_coding|9/13|c.760T>G|p.Leu254Val|949/1935|760/1143|254/380||,C|splice_region_variant&intron_variant|LOW|RBFOX2|ENSG00000100320|transcript|ENST00000405409|protein_coding|8/11|c.755-4T>G||||||,C|splice_region_variant&intron_variant|LOW|RBFOX2|ENSG00000100320|transcript|ENST00000262829|protein_coding|7/11|c.698-4T>G||||||,C|splice_region_variant&intron_variant|LOW|RBFOX2|ENSG00000100320|transcript|ENST00000397303|protein_coding|7/11|c.695-4T>G||||||,C|splice_region_variant&intron_variant|LOW|RBFOX2|ENSG00000100320|transcript|ENST00000359369|protein_coding|8/13|c.692-4T>G||||||,C|splice_region_variant&intron_variant|LOW|RBFOX2|ENSG00000100320|transcript|ENST00000416721|protein_coding|8/12|c.752-4T>G||||||,C|splice_region_variant&intron_variant|LOW|RBFOX2|ENSG00000100320|transcript|ENST00000495377|protein_coding|5/9|c.308-4T>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|splice_region_variant&intron_variant|LOW|RBFOX2|ENSG00000100320|transcript|ENST00000473487|protein_coding|8/8|c.692-4T>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 36157224 . T C . . ANN=C|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000438146|protein_coding|9/13|c.964+25A>G||||||,C|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000405409|protein_coding|8/11|c.754+25A>G||||||,C|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000414461|protein_coding|8/11|c.751+25A>G||||||,C|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000449924|protein_coding|8/12|c.751+25A>G||||||,C|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000262829|protein_coding|7/11|c.697+25A>G||||||,C|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000397303|protein_coding|7/11|c.694+25A>G||||||,C|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000359369|protein_coding|8/13|c.691+25A>G||||||,C|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000416721|protein_coding|8/12|c.751+25A>G||||||,C|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000495377|protein_coding|5/9|c.307+25A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000473487|protein_coding|8/8|c.691+25A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 36157319 . C T . . ANN=T|synonymous_variant|LOW|RBFOX2|ENSG00000100320|transcript|ENST00000438146|protein_coding|9/14|c.894G>A|p.Val298Val|894/1356|894/1356|298/451||,T|synonymous_variant|LOW|RBFOX2|ENSG00000100320|transcript|ENST00000405409|protein_coding|8/12|c.684G>A|p.Val228Val|1053/6932|684/1104|228/367||,T|synonymous_variant|LOW|RBFOX2|ENSG00000100320|transcript|ENST00000414461|protein_coding|8/12|c.681G>A|p.Val227Val|681/1706|681/1113|227/370||,T|synonymous_variant|LOW|RBFOX2|ENSG00000100320|transcript|ENST00000449924|protein_coding|8/13|c.681G>A|p.Val227Val|870/1935|681/1143|227/380||,T|synonymous_variant|LOW|RBFOX2|ENSG00000100320|transcript|ENST00000262829|protein_coding|7/12|c.627G>A|p.Val209Val|816/1538|627/1077|209/358||,T|synonymous_variant|LOW|RBFOX2|ENSG00000100320|transcript|ENST00000397303|protein_coding|7/12|c.624G>A|p.Val208Val|657/1354|624/1074|208/357||,T|synonymous_variant|LOW|RBFOX2|ENSG00000100320|transcript|ENST00000359369|protein_coding|8/14|c.621G>A|p.Val207Val|705/1409|621/1113|207/370||,T|synonymous_variant|LOW|RBFOX2|ENSG00000100320|transcript|ENST00000416721|protein_coding|8/13|c.681G>A|p.Val227Val|747/1254|681/1131|227/376||,T|synonymous_variant|LOW|RBFOX2|ENSG00000100320|transcript|ENST00000495377|protein_coding|5/10|c.237G>A|p.Val79Val|239/733|237/690|79/229||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|RBFOX2|ENSG00000100320|transcript|ENST00000473487|protein_coding|8/9|c.621G>A|p.Val207Val|708/789|621/702|207/233||WARNING_TRANSCRIPT_NO_STOP_CODON 22 36157348 . G T . . ANN=T|splice_region_variant&intron_variant|LOW|RBFOX2|ENSG00000100320|transcript|ENST00000438146|protein_coding|8/13|c.872-7C>A||||||,T|splice_region_variant&intron_variant|LOW|RBFOX2|ENSG00000100320|transcript|ENST00000405409|protein_coding|7/11|c.662-7C>A||||||,T|splice_region_variant&intron_variant|LOW|RBFOX2|ENSG00000100320|transcript|ENST00000414461|protein_coding|7/11|c.659-7C>A||||||,T|splice_region_variant&intron_variant|LOW|RBFOX2|ENSG00000100320|transcript|ENST00000449924|protein_coding|7/12|c.659-7C>A||||||,T|splice_region_variant&intron_variant|LOW|RBFOX2|ENSG00000100320|transcript|ENST00000262829|protein_coding|6/11|c.605-7C>A||||||,T|splice_region_variant&intron_variant|LOW|RBFOX2|ENSG00000100320|transcript|ENST00000397303|protein_coding|6/11|c.602-7C>A||||||,T|splice_region_variant&intron_variant|LOW|RBFOX2|ENSG00000100320|transcript|ENST00000359369|protein_coding|7/13|c.599-7C>A||||||,T|splice_region_variant&intron_variant|LOW|RBFOX2|ENSG00000100320|transcript|ENST00000416721|protein_coding|7/12|c.659-7C>A||||||,T|splice_region_variant&intron_variant|LOW|RBFOX2|ENSG00000100320|transcript|ENST00000495377|protein_coding|4/9|c.215-7C>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|splice_region_variant&intron_variant|LOW|RBFOX2|ENSG00000100320|transcript|ENST00000473487|protein_coding|7/8|c.599-7C>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 36164325 . C G . . ANN=G|synonymous_variant|LOW|RBFOX2|ENSG00000100320|transcript|ENST00000438146|protein_coding|6/14|c.735G>C|p.Val245Val|735/1356|735/1356|245/451||,G|synonymous_variant|LOW|RBFOX2|ENSG00000100320|transcript|ENST00000405409|protein_coding|5/12|c.525G>C|p.Val175Val|894/6932|525/1104|175/367||,G|synonymous_variant|LOW|RBFOX2|ENSG00000100320|transcript|ENST00000414461|protein_coding|5/12|c.522G>C|p.Val174Val|522/1706|522/1113|174/370||,G|synonymous_variant|LOW|RBFOX2|ENSG00000100320|transcript|ENST00000449924|protein_coding|5/13|c.522G>C|p.Val174Val|711/1935|522/1143|174/380||,G|synonymous_variant|LOW|RBFOX2|ENSG00000100320|transcript|ENST00000262829|protein_coding|4/12|c.468G>C|p.Val156Val|657/1538|468/1077|156/358||,G|synonymous_variant|LOW|RBFOX2|ENSG00000100320|transcript|ENST00000397303|protein_coding|4/12|c.465G>C|p.Val155Val|498/1354|465/1074|155/357||,G|synonymous_variant|LOW|RBFOX2|ENSG00000100320|transcript|ENST00000359369|protein_coding|5/14|c.462G>C|p.Val154Val|546/1409|462/1113|154/370||,G|synonymous_variant|LOW|RBFOX2|ENSG00000100320|transcript|ENST00000416721|protein_coding|5/13|c.522G>C|p.Val174Val|588/1254|522/1131|174/376||,G|synonymous_variant|LOW|RBFOX2|ENSG00000100320|transcript|ENST00000495377|protein_coding|2/10|c.78G>C|p.Val26Val|80/733|78/690|26/229||WARNING_TRANSCRIPT_NO_START_CODON,G|synonymous_variant|LOW|RBFOX2|ENSG00000100320|transcript|ENST00000473487|protein_coding|5/9|c.462G>C|p.Val154Val|549/789|462/702|154/233||WARNING_TRANSCRIPT_NO_STOP_CODON,G|synonymous_variant|LOW|RBFOX2|ENSG00000100320|transcript|ENST00000408983|protein_coding|6/6|c.591G>C|p.Val197Val|653/663|591/601|197/199||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000438146|protein_coding|7/14|c.735G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000438146|protein_coding|4/14|c.735G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000438146|protein_coding|5/14|c.735G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000438146|protein_coding|6/14|c.735G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000405409|protein_coding|3/12|c.525G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000405409|protein_coding|4/12|c.525G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000405409|protein_coding|5/12|c.525G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000405409|protein_coding|6/12|c.525G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000414461|protein_coding|3/12|c.522G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000414461|protein_coding|4/12|c.522G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000414461|protein_coding|5/12|c.522G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000414461|protein_coding|6/12|c.522G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000449924|protein_coding|6/13|c.522G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000449924|protein_coding|3/13|c.522G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000449924|protein_coding|4/13|c.522G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000449924|protein_coding|5/13|c.522G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000416721|protein_coding|6/13|c.522G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000416721|protein_coding|3/13|c.522G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000416721|protein_coding|4/13|c.522G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000416721|protein_coding|5/13|c.522G>C|||||| 22 36164375 . C G . . ANN=G|missense_variant|MODERATE|RBFOX2|ENSG00000100320|transcript|ENST00000438146|protein_coding|6/14|c.685G>C|p.Glu229Gln|685/1356|685/1356|229/451||,G|missense_variant|MODERATE|RBFOX2|ENSG00000100320|transcript|ENST00000405409|protein_coding|5/12|c.475G>C|p.Glu159Gln|844/6932|475/1104|159/367||,G|missense_variant|MODERATE|RBFOX2|ENSG00000100320|transcript|ENST00000414461|protein_coding|5/12|c.472G>C|p.Glu158Gln|472/1706|472/1113|158/370||,G|missense_variant|MODERATE|RBFOX2|ENSG00000100320|transcript|ENST00000449924|protein_coding|5/13|c.472G>C|p.Glu158Gln|661/1935|472/1143|158/380||,G|missense_variant|MODERATE|RBFOX2|ENSG00000100320|transcript|ENST00000262829|protein_coding|4/12|c.418G>C|p.Glu140Gln|607/1538|418/1077|140/358||,G|missense_variant|MODERATE|RBFOX2|ENSG00000100320|transcript|ENST00000397303|protein_coding|4/12|c.415G>C|p.Glu139Gln|448/1354|415/1074|139/357||,G|missense_variant|MODERATE|RBFOX2|ENSG00000100320|transcript|ENST00000359369|protein_coding|5/14|c.412G>C|p.Glu138Gln|496/1409|412/1113|138/370||,G|missense_variant|MODERATE|RBFOX2|ENSG00000100320|transcript|ENST00000416721|protein_coding|5/13|c.472G>C|p.Glu158Gln|538/1254|472/1131|158/376||,G|missense_variant|MODERATE|RBFOX2|ENSG00000100320|transcript|ENST00000495377|protein_coding|2/10|c.28G>C|p.Glu10Gln|30/733|28/690|10/229||WARNING_TRANSCRIPT_NO_START_CODON,G|missense_variant|MODERATE|RBFOX2|ENSG00000100320|transcript|ENST00000473487|protein_coding|5/9|c.412G>C|p.Glu138Gln|499/789|412/702|138/233||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|RBFOX2|ENSG00000100320|transcript|ENST00000408983|protein_coding|6/6|c.541G>C|p.Glu181Gln|603/663|541/601|181/199||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000438146|protein_coding|7/14|c.685G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000438146|protein_coding|4/14|c.685G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000438146|protein_coding|5/14|c.685G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000438146|protein_coding|6/14|c.685G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|beta_strand|ENST00000438146|protein_coding|6/14|c.685G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000405409|protein_coding|3/12|c.475G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000405409|protein_coding|4/12|c.475G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000405409|protein_coding|5/12|c.475G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000405409|protein_coding|6/12|c.475G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|beta_strand|ENST00000405409|protein_coding|5/12|c.475G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000414461|protein_coding|3/12|c.472G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000414461|protein_coding|4/12|c.472G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000414461|protein_coding|5/12|c.472G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000414461|protein_coding|6/12|c.472G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|beta_strand|ENST00000414461|protein_coding|5/12|c.472G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000449924|protein_coding|6/13|c.472G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000449924|protein_coding|3/13|c.472G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000449924|protein_coding|4/13|c.472G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000449924|protein_coding|5/13|c.472G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|beta_strand|ENST00000449924|protein_coding|5/13|c.472G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|beta_strand|ENST00000262829|protein_coding|4/12|c.418G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000416721|protein_coding|6/13|c.472G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000416721|protein_coding|3/13|c.472G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000416721|protein_coding|4/13|c.472G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000416721|protein_coding|5/13|c.472G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|beta_strand|ENST00000416721|protein_coding|5/13|c.472G>C|||||| 22 36164434 . C T . . ANN=T|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000438146|protein_coding|7/14|c.664-38G>A||||||,T|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000438146|protein_coding|4/14|c.664-38G>A||||||,T|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000438146|protein_coding|5/14|c.664-38G>A||||||,T|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000438146|protein_coding|6/14|c.664-38G>A||||||,T|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000405409|protein_coding|3/12|c.454-38G>A||||||,T|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000405409|protein_coding|4/12|c.454-38G>A||||||,T|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000405409|protein_coding|5/12|c.454-38G>A||||||,T|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000405409|protein_coding|6/12|c.454-38G>A||||||,T|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000414461|protein_coding|3/12|c.451-38G>A||||||,T|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000414461|protein_coding|4/12|c.451-38G>A||||||,T|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000414461|protein_coding|5/12|c.451-38G>A||||||,T|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000414461|protein_coding|6/12|c.451-38G>A||||||,T|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000449924|protein_coding|6/13|c.451-38G>A||||||,T|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000449924|protein_coding|3/13|c.451-38G>A||||||,T|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000449924|protein_coding|4/13|c.451-38G>A||||||,T|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000449924|protein_coding|5/13|c.451-38G>A||||||,T|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000416721|protein_coding|6/13|c.451-38G>A||||||,T|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000416721|protein_coding|3/13|c.451-38G>A||||||,T|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000416721|protein_coding|4/13|c.451-38G>A||||||,T|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000416721|protein_coding|5/13|c.451-38G>A||||||,T|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000438146|protein_coding|5/13|c.664-38G>A||||||,T|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000405409|protein_coding|4/11|c.454-38G>A||||||,T|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000414461|protein_coding|4/11|c.451-38G>A||||||,T|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000449924|protein_coding|4/12|c.451-38G>A||||||,T|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000262829|protein_coding|3/11|c.397-38G>A||||||,T|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000397303|protein_coding|3/11|c.394-38G>A||||||,T|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000359369|protein_coding|4/13|c.391-38G>A||||||,T|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000416721|protein_coding|4/12|c.451-38G>A||||||,T|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000495377|protein_coding|1/9|c.7-38G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000473487|protein_coding|4/8|c.391-38G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000408983|protein_coding|5/5|c.520-38G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 36174023 . T C . . ANN=C|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000438146|protein_coding|7/14|c.663+49A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000438146|protein_coding|4/14|c.663+49A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000438146|protein_coding|5/14|c.663+49A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000438146|protein_coding|6/14|c.663+49A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000405409|protein_coding|3/12|c.453+49A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000405409|protein_coding|4/12|c.453+49A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000405409|protein_coding|5/12|c.453+49A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000405409|protein_coding|6/12|c.453+49A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000414461|protein_coding|3/12|c.450+49A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000414461|protein_coding|4/12|c.450+49A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000414461|protein_coding|5/12|c.450+49A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000414461|protein_coding|6/12|c.450+49A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000449924|protein_coding|6/13|c.450+49A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000449924|protein_coding|3/13|c.450+49A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000449924|protein_coding|4/13|c.450+49A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000449924|protein_coding|5/13|c.450+49A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000416721|protein_coding|6/13|c.450+49A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000416721|protein_coding|3/13|c.450+49A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000416721|protein_coding|4/13|c.450+49A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000416721|protein_coding|5/13|c.450+49A>G||||||,C|downstream_gene_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000397305|protein_coding||c.*759A>G|||||52|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000438146|protein_coding|5/13|c.663+49A>G||||||,C|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000405409|protein_coding|4/11|c.453+49A>G||||||,C|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000414461|protein_coding|4/11|c.450+49A>G||||||,C|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000449924|protein_coding|4/12|c.450+49A>G||||||,C|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000262829|protein_coding|3/11|c.396+3624A>G||||||,C|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000397303|protein_coding|3/11|c.393+49A>G||||||,C|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000359369|protein_coding|4/13|c.390+49A>G||||||,C|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000416721|protein_coding|4/12|c.450+49A>G||||||,C|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000495377|protein_coding|1/9|c.6+49A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000473487|protein_coding|4/8|c.390+49A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000408983|protein_coding|5/5|c.519+49A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000491982|retained_intron|4/4|n.684A>G|||||| 22 36174157 . T C . . ANN=C|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000438146|protein_coding|7/14|c.610-32A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000438146|protein_coding|4/14|c.610-32A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000438146|protein_coding|5/14|c.610-32A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000438146|protein_coding|6/14|c.610-32A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|helix|ENST00000438146|protein_coding|4/14|c.610-32A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|helix|ENST00000438146|protein_coding|5/14|c.610-32A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000405409|protein_coding|3/12|c.400-32A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000405409|protein_coding|4/12|c.400-32A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000405409|protein_coding|5/12|c.400-32A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000405409|protein_coding|6/12|c.400-32A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|helix|ENST00000405409|protein_coding|3/12|c.400-32A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|helix|ENST00000405409|protein_coding|4/12|c.400-32A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000414461|protein_coding|3/12|c.397-32A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000414461|protein_coding|4/12|c.397-32A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000414461|protein_coding|5/12|c.397-32A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000414461|protein_coding|6/12|c.397-32A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|helix|ENST00000414461|protein_coding|3/12|c.397-32A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|helix|ENST00000414461|protein_coding|4/12|c.397-32A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000449924|protein_coding|6/13|c.397-32A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000449924|protein_coding|3/13|c.397-32A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000449924|protein_coding|4/13|c.397-32A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000449924|protein_coding|5/13|c.397-32A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|helix|ENST00000449924|protein_coding|3/13|c.397-32A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|helix|ENST00000449924|protein_coding|4/13|c.397-32A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000416721|protein_coding|6/13|c.397-32A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000416721|protein_coding|3/13|c.397-32A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000416721|protein_coding|4/13|c.397-32A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000416721|protein_coding|5/13|c.397-32A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|helix|ENST00000416721|protein_coding|3/13|c.397-32A>G||||||,C|sequence_feature|LOW|RBFOX2|ENSG00000100320|helix|ENST00000416721|protein_coding|4/13|c.397-32A>G||||||,C|upstream_gene_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000495377|protein_coding||c.-3A>G|||||78|WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000438146|protein_coding|4/13|c.610-32A>G||||||,C|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000405409|protein_coding|3/11|c.400-32A>G||||||,C|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000414461|protein_coding|3/11|c.397-32A>G||||||,C|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000449924|protein_coding|3/12|c.397-32A>G||||||,C|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000262829|protein_coding|3/11|c.396+3490A>G||||||,C|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000397303|protein_coding|2/11|c.340-32A>G||||||,C|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000359369|protein_coding|3/13|c.337-32A>G||||||,C|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000416721|protein_coding|3/12|c.397-32A>G||||||,C|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000473487|protein_coding|3/8|c.337-32A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000408983|protein_coding|4/5|c.466-32A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000491982|retained_intron|3/3|n.582-32A>G||||||,C|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000397305|protein_coding|4/4|c.337-35A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 36177713 . C T . . ANN=T|synonymous_variant|LOW|RBFOX2|ENSG00000100320|transcript|ENST00000438146|protein_coding|4/14|c.543G>A|p.Pro181Pro|543/1356|543/1356|181/451||,T|synonymous_variant|LOW|RBFOX2|ENSG00000100320|transcript|ENST00000405409|protein_coding|3/12|c.333G>A|p.Pro111Pro|702/6932|333/1104|111/367||,T|synonymous_variant|LOW|RBFOX2|ENSG00000100320|transcript|ENST00000414461|protein_coding|3/12|c.330G>A|p.Pro110Pro|330/1706|330/1113|110/370||,T|synonymous_variant|LOW|RBFOX2|ENSG00000100320|transcript|ENST00000449924|protein_coding|3/13|c.330G>A|p.Pro110Pro|519/1935|330/1143|110/380||,T|synonymous_variant|LOW|RBFOX2|ENSG00000100320|transcript|ENST00000262829|protein_coding|3/12|c.330G>A|p.Pro110Pro|519/1538|330/1077|110/358||,T|synonymous_variant|LOW|RBFOX2|ENSG00000100320|transcript|ENST00000397303|protein_coding|2/12|c.273G>A|p.Pro91Pro|306/1354|273/1074|91/357||,T|synonymous_variant|LOW|RBFOX2|ENSG00000100320|transcript|ENST00000359369|protein_coding|3/14|c.270G>A|p.Pro90Pro|354/1409|270/1113|90/370||,T|synonymous_variant|LOW|RBFOX2|ENSG00000100320|transcript|ENST00000416721|protein_coding|3/13|c.330G>A|p.Pro110Pro|396/1254|330/1131|110/376||,T|synonymous_variant|LOW|RBFOX2|ENSG00000100320|transcript|ENST00000473487|protein_coding|3/9|c.270G>A|p.Pro90Pro|357/789|270/702|90/233||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|RBFOX2|ENSG00000100320|transcript|ENST00000408983|protein_coding|4/6|c.399G>A|p.Pro133Pro|461/663|399/601|133/199||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|RBFOX2|ENSG00000100320|transcript|ENST00000397305|protein_coding|4/5|c.270G>A|p.Pro90Pro|645/759|270/384|90/127||WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000495377|protein_coding||c.-3G>A|||||3634|WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000491982|retained_intron|3/4|n.515G>A|||||| 22 36205806 . TTCACC T . . ANN=|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000438146|protein_coding|3/13|c.462+16_462+20delGGTGA||||||,|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000405409|protein_coding|2/11|c.252+16_252+20delGGTGA||||||,|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000414461|protein_coding|2/11|c.252+16_252+20delGGTGA||||||,|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000449924|protein_coding|2/12|c.252+16_252+20delGGTGA||||||,|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000262829|protein_coding|2/11|c.252+16_252+20delGGTGA||||||,|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000397303|protein_coding|1/11|c.192+16_192+20delGGTGA||||||,|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000359369|protein_coding|2/13|c.192+16_192+20delGGTGA||||||,|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000416721|protein_coding|2/12|c.252+16_252+20delGGTGA||||||,|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000473487|protein_coding|2/8|c.192+16_192+20delGGTGA||||||WARNING_TRANSCRIPT_NO_STOP_CODON,|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000408983|protein_coding|3/5|c.318+16_318+20delGGTGA||||||WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000491982|retained_intron|2/3|n.437+16_437+20delGGTGA||||||,|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000397305|protein_coding|3/4|c.192+16_192+20delGGTGA||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 36205818 . T A . . ANN=A|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000438146|protein_coding|3/13|c.462+9A>T||||||,A|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000405409|protein_coding|2/11|c.252+9A>T||||||,A|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000414461|protein_coding|2/11|c.252+9A>T||||||,A|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000449924|protein_coding|2/12|c.252+9A>T||||||,A|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000262829|protein_coding|2/11|c.252+9A>T||||||,A|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000397303|protein_coding|1/11|c.192+9A>T||||||,A|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000359369|protein_coding|2/13|c.192+9A>T||||||,A|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000416721|protein_coding|2/12|c.252+9A>T||||||,A|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000473487|protein_coding|2/8|c.192+9A>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000408983|protein_coding|3/5|c.318+9A>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000491982|retained_intron|2/3|n.437+9A>T||||||,A|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000397305|protein_coding|3/4|c.192+9A>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 36205891 . C T . . ANN=T|missense_variant|MODERATE|RBFOX2|ENSG00000100320|transcript|ENST00000438146|protein_coding|3/14|c.398G>A|p.Gly133Glu|398/1356|398/1356|133/451||,T|missense_variant|MODERATE|RBFOX2|ENSG00000100320|transcript|ENST00000405409|protein_coding|2/12|c.188G>A|p.Gly63Glu|557/6932|188/1104|63/367||,T|missense_variant|MODERATE|RBFOX2|ENSG00000100320|transcript|ENST00000414461|protein_coding|2/12|c.188G>A|p.Gly63Glu|188/1706|188/1113|63/370||,T|missense_variant|MODERATE|RBFOX2|ENSG00000100320|transcript|ENST00000449924|protein_coding|2/13|c.188G>A|p.Gly63Glu|377/1935|188/1143|63/380||,T|missense_variant|MODERATE|RBFOX2|ENSG00000100320|transcript|ENST00000262829|protein_coding|2/12|c.188G>A|p.Gly63Glu|377/1538|188/1077|63/358||,T|missense_variant|MODERATE|RBFOX2|ENSG00000100320|transcript|ENST00000397303|protein_coding|1/12|c.128G>A|p.Gly43Glu|161/1354|128/1074|43/357||,T|missense_variant|MODERATE|RBFOX2|ENSG00000100320|transcript|ENST00000359369|protein_coding|2/14|c.128G>A|p.Gly43Glu|212/1409|128/1113|43/370||,T|missense_variant|MODERATE|RBFOX2|ENSG00000100320|transcript|ENST00000416721|protein_coding|2/13|c.188G>A|p.Gly63Glu|254/1254|188/1131|63/376||,T|missense_variant|MODERATE|RBFOX2|ENSG00000100320|transcript|ENST00000473487|protein_coding|2/9|c.128G>A|p.Gly43Glu|215/789|128/702|43/233||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|RBFOX2|ENSG00000100320|transcript|ENST00000408983|protein_coding|3/6|c.254G>A|p.Gly85Glu|316/663|254/601|85/199||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|RBFOX2|ENSG00000100320|transcript|ENST00000397305|protein_coding|3/5|c.128G>A|p.Gly43Glu|503/759|128/384|43/127||WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000491982|retained_intron|2/4|n.373G>A|||||| 22 36424247 . C G . . ANN=G|intron_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000438146|protein_coding|1/13|c.186+41G>C|||||| 22 36424450 . A C . . ANN=C|missense_variant|MODERATE|RBFOX2|ENSG00000100320|transcript|ENST00000438146|protein_coding|1/14|c.24T>G|p.His8Gln|24/1356|24/1356|8/451|| 22 36537200 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000349314|protein_coding|3/3|c.*48C>T|||||48|,A|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397293|protein_coding|4/4|c.*48C>T|||||48|,A|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000424878|protein_coding|4/4|c.*48C>T|||||48|,A|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*1060C>T|||||7920|,A|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*1218C>T|||||8194|,A|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*1334C>T|||||8194|,A|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000361710|protein_coding|4/4|c.*48C>T|||||48|,A|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397287|protein_coding|5/5|c.*48C>T|||||48|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay||n.*101C>T|||||376|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487423|processed_transcript||n.*576C>T|||||551|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay||n.*157C>T|||||564|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000534251|processed_transcript||n.*569C>T|||||711|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531195|nonsense_mediated_decay||n.*157C>T|||||4331|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487783|nonsense_mediated_decay||n.*119C>T|||||4337|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000525184|processed_transcript||n.*327C>T|||||4355|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000485453|processed_transcript||n.*477C>T|||||4392|,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*1060C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*1218C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*1334C>T|||||| 22 36537222 . C G . . ANN=G|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000349314|protein_coding|3/3|c.*26G>C|||||26|,G|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397293|protein_coding|4/4|c.*26G>C|||||26|,G|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000424878|protein_coding|4/4|c.*26G>C|||||26|,G|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*1038G>C|||||7898|,G|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*1196G>C|||||8172|,G|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*1312G>C|||||8172|,G|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000361710|protein_coding|4/4|c.*26G>C|||||26|,G|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397287|protein_coding|5/5|c.*26G>C|||||26|,G|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay||n.*101G>C|||||354|,G|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487423|processed_transcript||n.*576G>C|||||529|,G|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay||n.*157G>C|||||542|,G|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000534251|processed_transcript||n.*569G>C|||||689|,G|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531195|nonsense_mediated_decay||n.*157G>C|||||4309|,G|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487783|nonsense_mediated_decay||n.*119G>C|||||4315|,G|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000525184|processed_transcript||n.*327G>C|||||4333|,G|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000485453|processed_transcript||n.*477G>C|||||4370|,G|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*1038G>C||||||,G|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*1196G>C||||||,G|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*1312G>C|||||| 22 36537237 . C G . . ANN=G|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000349314|protein_coding|3/3|c.*11G>C|||||11|,G|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397293|protein_coding|4/4|c.*11G>C|||||11|,G|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000424878|protein_coding|4/4|c.*11G>C|||||11|,G|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*1023G>C|||||7883|,G|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*1181G>C|||||8157|,G|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*1297G>C|||||8157|,G|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000361710|protein_coding|4/4|c.*11G>C|||||11|,G|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397287|protein_coding|5/5|c.*11G>C|||||11|,G|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay||n.*101G>C|||||339|,G|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487423|processed_transcript||n.*576G>C|||||514|,G|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay||n.*157G>C|||||527|,G|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000534251|processed_transcript||n.*569G>C|||||674|,G|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531195|nonsense_mediated_decay||n.*157G>C|||||4294|,G|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487783|nonsense_mediated_decay||n.*119G>C|||||4300|,G|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000525184|processed_transcript||n.*327G>C|||||4318|,G|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000485453|processed_transcript||n.*477G>C|||||4355|,G|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*1023G>C||||||,G|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*1181G>C||||||,G|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*1297G>C|||||| 22 36537292 . G A . . ANN=A|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000349314|protein_coding|3/3|c.1165C>T|p.Leu389Phe|1203/2117|1165/1209|389/402||,A|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000397293|protein_coding|4/4|c.952C>T|p.Leu318Phe|1300/2220|952/996|318/331||,A|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000424878|protein_coding|4/4|c.565C>T|p.Leu189Phe|2714/3634|565/609|189/202||,A|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000361710|protein_coding|4/4|c.565C>T|p.Leu189Phe|2649/3563|565/609|189/202||,A|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000397287|protein_coding|5/5|c.565C>T|p.Leu189Phe|2712/3626|565/609|189/202||,A|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*968C>T|||||7828|,A|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*1126C>T|||||8102|,A|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*1242C>T|||||8102|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay||n.*101C>T|||||284|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487423|processed_transcript||n.*576C>T|||||459|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay||n.*157C>T|||||472|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000534251|processed_transcript||n.*569C>T|||||619|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531195|nonsense_mediated_decay||n.*157C>T|||||4239|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487783|nonsense_mediated_decay||n.*119C>T|||||4245|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000525184|processed_transcript||n.*327C>T|||||4263|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000485453|processed_transcript||n.*477C>T|||||4300|,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*968C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*1126C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*1242C>T|||||| 22 36537327 . C T . . ANN=T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000349314|protein_coding|3/3|c.1130G>A|p.Arg377Gln|1168/2117|1130/1209|377/402||,T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000397293|protein_coding|4/4|c.917G>A|p.Arg306Gln|1265/2220|917/996|306/331||,T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000424878|protein_coding|4/4|c.530G>A|p.Arg177Gln|2679/3634|530/609|177/202||,T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000361710|protein_coding|4/4|c.530G>A|p.Arg177Gln|2614/3563|530/609|177/202||,T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000397287|protein_coding|5/5|c.530G>A|p.Arg177Gln|2677/3626|530/609|177/202||,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*933G>A|||||7793|,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*1091G>A|||||8067|,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*1207G>A|||||8067|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay||n.*101G>A|||||249|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487423|processed_transcript||n.*576G>A|||||424|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay||n.*157G>A|||||437|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000534251|processed_transcript||n.*569G>A|||||584|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531195|nonsense_mediated_decay||n.*157G>A|||||4204|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487783|nonsense_mediated_decay||n.*119G>A|||||4210|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000525184|processed_transcript||n.*327G>A|||||4228|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000485453|processed_transcript||n.*477G>A|||||4265|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000530895|nonsense_mediated_decay||n.*113G>A|||||4980|,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*933G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*1091G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*1207G>A|||||| 22 36537500 . A T . . ANN=T|synonymous_variant|LOW|APOL3|ENSG00000128284|transcript|ENST00000349314|protein_coding|3/3|c.957T>A|p.Gly319Gly|995/2117|957/1209|319/402||,T|synonymous_variant|LOW|APOL3|ENSG00000128284|transcript|ENST00000397293|protein_coding|4/4|c.744T>A|p.Gly248Gly|1092/2220|744/996|248/331||,T|synonymous_variant|LOW|APOL3|ENSG00000128284|transcript|ENST00000424878|protein_coding|4/4|c.357T>A|p.Gly119Gly|2506/3634|357/609|119/202||,T|synonymous_variant|LOW|APOL3|ENSG00000128284|transcript|ENST00000361710|protein_coding|4/4|c.357T>A|p.Gly119Gly|2441/3563|357/609|119/202||,T|synonymous_variant|LOW|APOL3|ENSG00000128284|transcript|ENST00000397287|protein_coding|5/5|c.357T>A|p.Gly119Gly|2504/3626|357/609|119/202||,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*760T>A|||||7620|,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*918T>A|||||7894|,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*1034T>A|||||7894|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay||n.*101T>A|||||76|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487423|processed_transcript||n.*576T>A|||||251|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay||n.*157T>A|||||264|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000534251|processed_transcript||n.*569T>A|||||411|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531195|nonsense_mediated_decay||n.*157T>A|||||4031|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487783|nonsense_mediated_decay||n.*119T>A|||||4037|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000525184|processed_transcript||n.*327T>A|||||4055|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000485453|processed_transcript||n.*477T>A|||||4092|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000530895|nonsense_mediated_decay||n.*113T>A|||||4807|,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*760T>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*918T>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*1034T>A|||||| 22 36537587 . G T . . ANN=T|synonymous_variant|LOW|APOL3|ENSG00000128284|transcript|ENST00000349314|protein_coding|3/3|c.870C>A|p.Thr290Thr|908/2117|870/1209|290/402||,T|synonymous_variant|LOW|APOL3|ENSG00000128284|transcript|ENST00000397293|protein_coding|4/4|c.657C>A|p.Thr219Thr|1005/2220|657/996|219/331||,T|synonymous_variant|LOW|APOL3|ENSG00000128284|transcript|ENST00000424878|protein_coding|4/4|c.270C>A|p.Thr90Thr|2419/3634|270/609|90/202||,T|synonymous_variant|LOW|APOL3|ENSG00000128284|transcript|ENST00000361710|protein_coding|4/4|c.270C>A|p.Thr90Thr|2354/3563|270/609|90/202||,T|synonymous_variant|LOW|APOL3|ENSG00000128284|transcript|ENST00000397287|protein_coding|5/5|c.270C>A|p.Thr90Thr|2417/3626|270/609|90/202||,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*673C>A|||||7533|,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*831C>A|||||7807|,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*947C>A|||||7807|,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|5/5|n.*893C>A|||||15454|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487423|processed_transcript||n.*576C>A|||||164|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay||n.*157C>A|||||177|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000534251|processed_transcript||n.*569C>A|||||324|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531195|nonsense_mediated_decay||n.*157C>A|||||3944|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487783|nonsense_mediated_decay||n.*119C>A|||||3950|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000525184|processed_transcript||n.*327C>A|||||3968|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000485453|processed_transcript||n.*477C>A|||||4005|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000530895|nonsense_mediated_decay||n.*113C>A|||||4720|,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*673C>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*831C>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*947C>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|5/5|n.*893C>A|||||| 22 36537645 . C T . . ANN=T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000349314|protein_coding|3/3|c.812G>A|p.Arg271His|850/2117|812/1209|271/402||,T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000397293|protein_coding|4/4|c.599G>A|p.Arg200His|947/2220|599/996|200/331||,T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000424878|protein_coding|4/4|c.212G>A|p.Arg71His|2361/3634|212/609|71/202||,T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000361710|protein_coding|4/4|c.212G>A|p.Arg71His|2296/3563|212/609|71/202||,T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000397287|protein_coding|5/5|c.212G>A|p.Arg71His|2359/3626|212/609|71/202||,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*615G>A|||||7475|,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*773G>A|||||7749|,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*889G>A|||||7749|,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|5/5|n.*835G>A|||||15396|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487423|processed_transcript||n.*576G>A|||||106|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay||n.*157G>A|||||119|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000534251|processed_transcript||n.*569G>A|||||266|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531195|nonsense_mediated_decay||n.*157G>A|||||3886|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487783|nonsense_mediated_decay||n.*119G>A|||||3892|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000525184|processed_transcript||n.*327G>A|||||3910|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000485453|processed_transcript||n.*477G>A|||||3947|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000530895|nonsense_mediated_decay||n.*113G>A|||||4662|,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*615G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*773G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*889G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|5/5|n.*835G>A|||||| 22 36537646 . G A . . ANN=A|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000349314|protein_coding|3/3|c.811C>T|p.Arg271Cys|849/2117|811/1209|271/402||,A|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000397293|protein_coding|4/4|c.598C>T|p.Arg200Cys|946/2220|598/996|200/331||,A|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000424878|protein_coding|4/4|c.211C>T|p.Arg71Cys|2360/3634|211/609|71/202||,A|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000361710|protein_coding|4/4|c.211C>T|p.Arg71Cys|2295/3563|211/609|71/202||,A|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000397287|protein_coding|5/5|c.211C>T|p.Arg71Cys|2358/3626|211/609|71/202||,A|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*614C>T|||||7474|,A|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*772C>T|||||7748|,A|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*888C>T|||||7748|,A|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|5/5|n.*834C>T|||||15395|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487423|processed_transcript||n.*576C>T|||||105|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay||n.*157C>T|||||118|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000534251|processed_transcript||n.*569C>T|||||265|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531195|nonsense_mediated_decay||n.*157C>T|||||3885|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487783|nonsense_mediated_decay||n.*119C>T|||||3891|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000525184|processed_transcript||n.*327C>T|||||3909|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000485453|processed_transcript||n.*477C>T|||||3946|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000530895|nonsense_mediated_decay||n.*113C>T|||||4661|,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*614C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*772C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*888C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|5/5|n.*834C>T|||||| 22 36537671 . T G . . ANN=G|synonymous_variant|LOW|APOL3|ENSG00000128284|transcript|ENST00000349314|protein_coding|3/3|c.786A>C|p.Arg262Arg|824/2117|786/1209|262/402||,G|synonymous_variant|LOW|APOL3|ENSG00000128284|transcript|ENST00000397293|protein_coding|4/4|c.573A>C|p.Arg191Arg|921/2220|573/996|191/331||,G|synonymous_variant|LOW|APOL3|ENSG00000128284|transcript|ENST00000424878|protein_coding|4/4|c.186A>C|p.Arg62Arg|2335/3634|186/609|62/202||,G|synonymous_variant|LOW|APOL3|ENSG00000128284|transcript|ENST00000361710|protein_coding|4/4|c.186A>C|p.Arg62Arg|2270/3563|186/609|62/202||,G|synonymous_variant|LOW|APOL3|ENSG00000128284|transcript|ENST00000397287|protein_coding|5/5|c.186A>C|p.Arg62Arg|2333/3626|186/609|62/202||,G|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*589A>C|||||7449|,G|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*747A>C|||||7723|,G|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*863A>C|||||7723|,G|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|5/5|n.*809A>C|||||15370|,G|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487423|processed_transcript||n.*576A>C|||||80|,G|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay||n.*157A>C|||||93|,G|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000534251|processed_transcript||n.*569A>C|||||240|,G|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531195|nonsense_mediated_decay||n.*157A>C|||||3860|,G|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487783|nonsense_mediated_decay||n.*119A>C|||||3866|,G|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000525184|processed_transcript||n.*327A>C|||||3884|,G|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000485453|processed_transcript||n.*477A>C|||||3921|,G|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000530895|nonsense_mediated_decay||n.*113A>C|||||4636|,G|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*589A>C||||||,G|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*747A>C||||||,G|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*863A>C||||||,G|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|5/5|n.*809A>C|||||| 22 36537725 . G A . . ANN=A|synonymous_variant|LOW|APOL3|ENSG00000128284|transcript|ENST00000349314|protein_coding|3/3|c.732C>T|p.Tyr244Tyr|770/2117|732/1209|244/402||,A|synonymous_variant|LOW|APOL3|ENSG00000128284|transcript|ENST00000397293|protein_coding|4/4|c.519C>T|p.Tyr173Tyr|867/2220|519/996|173/331||,A|synonymous_variant|LOW|APOL3|ENSG00000128284|transcript|ENST00000424878|protein_coding|4/4|c.132C>T|p.Tyr44Tyr|2281/3634|132/609|44/202||,A|synonymous_variant|LOW|APOL3|ENSG00000128284|transcript|ENST00000361710|protein_coding|4/4|c.132C>T|p.Tyr44Tyr|2216/3563|132/609|44/202||,A|synonymous_variant|LOW|APOL3|ENSG00000128284|transcript|ENST00000397287|protein_coding|5/5|c.132C>T|p.Tyr44Tyr|2279/3626|132/609|44/202||,A|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*535C>T|||||7395|,A|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*693C>T|||||7669|,A|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*809C>T|||||7669|,A|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|5/5|n.*755C>T|||||15316|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487423|processed_transcript||n.*576C>T|||||26|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay||n.*157C>T|||||39|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000534251|processed_transcript||n.*569C>T|||||186|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531195|nonsense_mediated_decay||n.*157C>T|||||3806|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487783|nonsense_mediated_decay||n.*119C>T|||||3812|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000525184|processed_transcript||n.*327C>T|||||3830|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000485453|processed_transcript||n.*477C>T|||||3867|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000530895|nonsense_mediated_decay||n.*113C>T|||||4582|,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*535C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*693C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*809C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|5/5|n.*755C>T|||||| 22 36537736 . C T . . ANN=T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000349314|protein_coding|3/3|c.721G>A|p.Glu241Lys|759/2117|721/1209|241/402||,T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000397293|protein_coding|4/4|c.508G>A|p.Glu170Lys|856/2220|508/996|170/331||,T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000424878|protein_coding|4/4|c.121G>A|p.Glu41Lys|2270/3634|121/609|41/202||,T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000361710|protein_coding|4/4|c.121G>A|p.Glu41Lys|2205/3563|121/609|41/202||,T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000397287|protein_coding|5/5|c.121G>A|p.Glu41Lys|2268/3626|121/609|41/202||,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*524G>A|||||7384|,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*682G>A|||||7658|,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*798G>A|||||7658|,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|5/5|n.*744G>A|||||15305|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487423|processed_transcript||n.*576G>A|||||15|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay||n.*157G>A|||||28|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000534251|processed_transcript||n.*569G>A|||||175|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531195|nonsense_mediated_decay||n.*157G>A|||||3795|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487783|nonsense_mediated_decay||n.*119G>A|||||3801|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000525184|processed_transcript||n.*327G>A|||||3819|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000485453|processed_transcript||n.*477G>A|||||3856|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000530895|nonsense_mediated_decay||n.*113G>A|||||4571|,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*524G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*682G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*798G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|5/5|n.*744G>A|||||| 22 36537740 . G A . . ANN=A|synonymous_variant|LOW|APOL3|ENSG00000128284|transcript|ENST00000349314|protein_coding|3/3|c.717C>T|p.Ile239Ile|755/2117|717/1209|239/402||,A|synonymous_variant|LOW|APOL3|ENSG00000128284|transcript|ENST00000397293|protein_coding|4/4|c.504C>T|p.Ile168Ile|852/2220|504/996|168/331||,A|synonymous_variant|LOW|APOL3|ENSG00000128284|transcript|ENST00000424878|protein_coding|4/4|c.117C>T|p.Ile39Ile|2266/3634|117/609|39/202||,A|synonymous_variant|LOW|APOL3|ENSG00000128284|transcript|ENST00000361710|protein_coding|4/4|c.117C>T|p.Ile39Ile|2201/3563|117/609|39/202||,A|synonymous_variant|LOW|APOL3|ENSG00000128284|transcript|ENST00000397287|protein_coding|5/5|c.117C>T|p.Ile39Ile|2264/3626|117/609|39/202||,A|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*520C>T|||||7380|,A|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*678C>T|||||7654|,A|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*794C>T|||||7654|,A|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|5/5|n.*740C>T|||||15301|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487423|processed_transcript||n.*576C>T|||||11|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay||n.*157C>T|||||24|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000534251|processed_transcript||n.*569C>T|||||171|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531195|nonsense_mediated_decay||n.*157C>T|||||3791|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487783|nonsense_mediated_decay||n.*119C>T|||||3797|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000525184|processed_transcript||n.*327C>T|||||3815|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000485453|processed_transcript||n.*477C>T|||||3852|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000530895|nonsense_mediated_decay||n.*113C>T|||||4567|,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*520C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*678C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*794C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|5/5|n.*740C>T|||||| 22 36537763 . C T . . ANN=T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000349314|protein_coding|3/3|c.694G>A|p.Val232Met|732/2117|694/1209|232/402||,T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000397293|protein_coding|4/4|c.481G>A|p.Val161Met|829/2220|481/996|161/331||,T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000424878|protein_coding|4/4|c.94G>A|p.Val32Met|2243/3634|94/609|32/202||,T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000361710|protein_coding|4/4|c.94G>A|p.Val32Met|2178/3563|94/609|32/202||,T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000397287|protein_coding|5/5|c.94G>A|p.Val32Met|2241/3626|94/609|32/202||,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*497G>A|||||7357|,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*655G>A|||||7631|,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*771G>A|||||7631|,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|5/5|n.*717G>A|||||15278|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay||n.*157G>A|||||1|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000534251|processed_transcript||n.*569G>A|||||148|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531195|nonsense_mediated_decay||n.*157G>A|||||3768|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487783|nonsense_mediated_decay||n.*119G>A|||||3774|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000525184|processed_transcript||n.*327G>A|||||3792|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000485453|processed_transcript||n.*477G>A|||||3829|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000530895|nonsense_mediated_decay||n.*113G>A|||||4544|,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*497G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*655G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*771G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|5/5|n.*717G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487423|processed_transcript|3/3|n.564G>A|||||| 22 36537775 . C T . . ANN=T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000349314|protein_coding|3/3|c.682G>A|p.Ala228Thr|720/2117|682/1209|228/402||,T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000397293|protein_coding|4/4|c.469G>A|p.Ala157Thr|817/2220|469/996|157/331||,T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000424878|protein_coding|4/4|c.82G>A|p.Ala28Thr|2231/3634|82/609|28/202||,T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000361710|protein_coding|4/4|c.82G>A|p.Ala28Thr|2166/3563|82/609|28/202||,T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000397287|protein_coding|5/5|c.82G>A|p.Ala28Thr|2229/3626|82/609|28/202||,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*485G>A|||||7345|,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*643G>A|||||7619|,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*759G>A|||||7619|,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|5/5|n.*705G>A|||||15266|,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay|5/5|n.*408G>A|||||7345|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000534251|processed_transcript||n.*569G>A|||||136|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531195|nonsense_mediated_decay||n.*157G>A|||||3756|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487783|nonsense_mediated_decay||n.*119G>A|||||3762|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000525184|processed_transcript||n.*327G>A|||||3780|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000485453|processed_transcript||n.*477G>A|||||3817|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000530895|nonsense_mediated_decay||n.*113G>A|||||4532|,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*485G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*643G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*759G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|5/5|n.*705G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487423|processed_transcript|3/3|n.552G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay|5/5|n.*408G>A|||||| 22 36537798 . G A . . ANN=A|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000349314|protein_coding|3/3|c.659C>T|p.Thr220Ile|697/2117|659/1209|220/402||,A|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000397293|protein_coding|4/4|c.446C>T|p.Thr149Ile|794/2220|446/996|149/331||,A|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000424878|protein_coding|4/4|c.59C>T|p.Thr20Ile|2208/3634|59/609|20/202||,A|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000361710|protein_coding|4/4|c.59C>T|p.Thr20Ile|2143/3563|59/609|20/202||,A|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000397287|protein_coding|5/5|c.59C>T|p.Thr20Ile|2206/3626|59/609|20/202||,A|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*462C>T|||||7322|,A|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*620C>T|||||7596|,A|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*736C>T|||||7596|,A|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|5/5|n.*682C>T|||||15243|,A|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay|5/5|n.*385C>T|||||7322|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000534251|processed_transcript||n.*569C>T|||||113|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531195|nonsense_mediated_decay||n.*157C>T|||||3733|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487783|nonsense_mediated_decay||n.*119C>T|||||3739|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000525184|processed_transcript||n.*327C>T|||||3757|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000485453|processed_transcript||n.*477C>T|||||3794|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000530895|nonsense_mediated_decay||n.*113C>T|||||4509|,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*462C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*620C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*736C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|5/5|n.*682C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487423|processed_transcript|3/3|n.529C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay|5/5|n.*385C>T|||||| 22 36537812 . C T . . ANN=T|synonymous_variant|LOW|APOL3|ENSG00000128284|transcript|ENST00000349314|protein_coding|3/3|c.645G>A|p.Thr215Thr|683/2117|645/1209|215/402||,T|synonymous_variant|LOW|APOL3|ENSG00000128284|transcript|ENST00000397293|protein_coding|4/4|c.432G>A|p.Thr144Thr|780/2220|432/996|144/331||,T|synonymous_variant|LOW|APOL3|ENSG00000128284|transcript|ENST00000424878|protein_coding|4/4|c.45G>A|p.Thr15Thr|2194/3634|45/609|15/202||,T|synonymous_variant|LOW|APOL3|ENSG00000128284|transcript|ENST00000361710|protein_coding|4/4|c.45G>A|p.Thr15Thr|2129/3563|45/609|15/202||,T|synonymous_variant|LOW|APOL3|ENSG00000128284|transcript|ENST00000397287|protein_coding|5/5|c.45G>A|p.Thr15Thr|2192/3626|45/609|15/202||,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*448G>A|||||7308|,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*606G>A|||||7582|,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*722G>A|||||7582|,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|5/5|n.*668G>A|||||15229|,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay|5/5|n.*371G>A|||||7308|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000534251|processed_transcript||n.*569G>A|||||99|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531195|nonsense_mediated_decay||n.*157G>A|||||3719|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487783|nonsense_mediated_decay||n.*119G>A|||||3725|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000525184|processed_transcript||n.*327G>A|||||3743|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000485453|processed_transcript||n.*477G>A|||||3780|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000530895|nonsense_mediated_decay||n.*113G>A|||||4495|,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*448G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*606G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*722G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|5/5|n.*668G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487423|processed_transcript|3/3|n.515G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay|5/5|n.*371G>A|||||| 22 36537832 . C T . . ANN=T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000349314|protein_coding|3/3|c.625G>A|p.Ala209Thr|663/2117|625/1209|209/402||,T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000397293|protein_coding|4/4|c.412G>A|p.Ala138Thr|760/2220|412/996|138/331||,T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000424878|protein_coding|4/4|c.25G>A|p.Ala9Thr|2174/3634|25/609|9/202||,T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000361710|protein_coding|4/4|c.25G>A|p.Ala9Thr|2109/3563|25/609|9/202||,T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000397287|protein_coding|5/5|c.25G>A|p.Ala9Thr|2172/3626|25/609|9/202||,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*428G>A|||||7288|,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*586G>A|||||7562|,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*702G>A|||||7562|,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|5/5|n.*648G>A|||||15209|,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay|5/5|n.*351G>A|||||7288|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000534251|processed_transcript||n.*569G>A|||||79|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531195|nonsense_mediated_decay||n.*157G>A|||||3699|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487783|nonsense_mediated_decay||n.*119G>A|||||3705|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000525184|processed_transcript||n.*327G>A|||||3723|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000485453|processed_transcript||n.*477G>A|||||3760|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000530895|nonsense_mediated_decay||n.*113G>A|||||4475|,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*428G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*586G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*702G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|5/5|n.*648G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487423|processed_transcript|3/3|n.495G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay|5/5|n.*351G>A|||||| 22 36537865 . A G . . ANN=G|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000349314|protein_coding|3/3|c.592T>C|p.Ser198Pro|630/2117|592/1209|198/402||,G|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000397293|protein_coding|4/4|c.379T>C|p.Ser127Pro|727/2220|379/996|127/331||,G|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000424878|protein_coding|4/4|c.-9T>C|||||9|,G|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000361710|protein_coding|4/4|c.-9T>C|||||9|,G|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397287|protein_coding|5/5|c.-9T>C|||||9|,G|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*395T>C|||||7255|,G|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*553T>C|||||7529|,G|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*669T>C|||||7529|,G|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|5/5|n.*615T>C|||||15176|,G|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay|5/5|n.*318T>C|||||7255|,G|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000534251|processed_transcript||n.*569T>C|||||46|,G|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531195|nonsense_mediated_decay||n.*157T>C|||||3666|,G|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487783|nonsense_mediated_decay||n.*119T>C|||||3672|,G|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000525184|processed_transcript||n.*327T>C|||||3690|,G|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000485453|processed_transcript||n.*477T>C|||||3727|,G|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000530895|nonsense_mediated_decay||n.*113T>C|||||4442|,G|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*395T>C||||||,G|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*553T>C||||||,G|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*669T>C||||||,G|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|5/5|n.*615T>C||||||,G|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487423|processed_transcript|3/3|n.462T>C||||||,G|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay|5/5|n.*318T>C|||||| 22 36537871 . C T . . ANN=T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000349314|protein_coding|3/3|c.586G>A|p.Ala196Thr|624/2117|586/1209|196/402||,T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000397293|protein_coding|4/4|c.373G>A|p.Ala125Thr|721/2220|373/996|125/331||,T|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000424878|protein_coding|4/4|c.-15G>A|||||15|,T|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000361710|protein_coding|4/4|c.-15G>A|||||15|,T|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397287|protein_coding|5/5|c.-15G>A|||||15|,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*389G>A|||||7249|,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*547G>A|||||7523|,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*663G>A|||||7523|,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|5/5|n.*609G>A|||||15170|,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay|5/5|n.*312G>A|||||7249|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000534251|processed_transcript||n.*569G>A|||||40|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531195|nonsense_mediated_decay||n.*157G>A|||||3660|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487783|nonsense_mediated_decay||n.*119G>A|||||3666|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000525184|processed_transcript||n.*327G>A|||||3684|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000485453|processed_transcript||n.*477G>A|||||3721|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000530895|nonsense_mediated_decay||n.*113G>A|||||4436|,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*389G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*547G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*663G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|5/5|n.*609G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487423|processed_transcript|3/3|n.456G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay|5/5|n.*312G>A|||||| 22 36537893 . A G . . ANN=G|synonymous_variant|LOW|APOL3|ENSG00000128284|transcript|ENST00000349314|protein_coding|3/3|c.564T>C|p.Asn188Asn|602/2117|564/1209|188/402||,G|synonymous_variant|LOW|APOL3|ENSG00000128284|transcript|ENST00000397293|protein_coding|4/4|c.351T>C|p.Asn117Asn|699/2220|351/996|117/331||,G|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000424878|protein_coding|4/4|c.-37T>C|||||37|,G|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000361710|protein_coding|4/4|c.-37T>C|||||37|,G|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397287|protein_coding|5/5|c.-37T>C|||||37|,G|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*367T>C|||||7227|,G|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*525T>C|||||7501|,G|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*641T>C|||||7501|,G|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|5/5|n.*587T>C|||||15148|,G|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay|5/5|n.*290T>C|||||7227|,G|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000534251|processed_transcript||n.*569T>C|||||18|,G|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531195|nonsense_mediated_decay||n.*157T>C|||||3638|,G|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487783|nonsense_mediated_decay||n.*119T>C|||||3644|,G|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000525184|processed_transcript||n.*327T>C|||||3662|,G|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000485453|processed_transcript||n.*477T>C|||||3699|,G|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000530895|nonsense_mediated_decay||n.*113T>C|||||4414|,G|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*367T>C||||||,G|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*525T>C||||||,G|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*641T>C||||||,G|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|5/5|n.*587T>C||||||,G|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487423|processed_transcript|3/3|n.434T>C||||||,G|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay|5/5|n.*290T>C|||||| 22 36538053 . G A . . ANN=A|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000349314|protein_coding|3/3|c.404C>T|p.Ala135Val|442/2117|404/1209|135/402||,A|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000397293|protein_coding|4/4|c.191C>T|p.Ala64Val|539/2220|191/996|64/331||,A|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000424878|protein_coding|4/4|c.-197C>T|||||197|,A|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000361710|protein_coding|4/4|c.-197C>T|||||197|,A|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397287|protein_coding|5/5|c.-197C>T|||||197|,A|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*207C>T|||||7067|,A|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*365C>T|||||7341|,A|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*481C>T|||||7341|,A|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|5/5|n.*427C>T|||||14988|,A|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay|5/5|n.*130C>T|||||7067|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531195|nonsense_mediated_decay||n.*157C>T|||||3478|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487783|nonsense_mediated_decay||n.*119C>T|||||3484|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000525184|processed_transcript||n.*327C>T|||||3502|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000485453|processed_transcript||n.*477C>T|||||3539|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000530895|nonsense_mediated_decay||n.*113C>T|||||4254|,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*207C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*365C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*481C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|5/5|n.*427C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487423|processed_transcript|3/3|n.274C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay|5/5|n.*130C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000534251|processed_transcript|4/4|n.427C>T|||||| 22 36541511 . C T . . ANN=T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531195|nonsense_mediated_decay||n.*157G>A|||||20|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487783|nonsense_mediated_decay||n.*119G>A|||||26|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000525184|processed_transcript||n.*327G>A|||||44|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000485453|processed_transcript||n.*477G>A|||||81|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000530895|nonsense_mediated_decay||n.*113G>A|||||796|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000472303|nonsense_mediated_decay||n.*260G>A|||||3612|,T|intron_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000349314|protein_coding|2/2|c.350+10G>A||||||,T|intron_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397293|protein_coding|3/3|c.137+10G>A||||||,T|intron_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000424878|protein_coding|3/3|c.-251+10G>A||||||,T|intron_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|3/3|n.*153+10G>A||||||,T|intron_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|4/4|n.*311+10G>A||||||,T|intron_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|3/3|n.*427+10G>A||||||,T|intron_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000361710|protein_coding|3/3|c.-251+10G>A||||||,T|intron_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397287|protein_coding|4/4|c.-251+10G>A||||||,T|intron_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|4/4|n.*373+10G>A||||||,T|intron_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487423|processed_transcript|2/2|n.220+10G>A||||||,T|intron_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay|4/4|n.*76+10G>A||||||,T|intron_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000534251|processed_transcript|3/3|n.373+10G>A|||||| 22 36541567 . T C . . ANN=C|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000349314|protein_coding|2/3|c.304A>G|p.Asn102Asp|342/2117|304/1209|102/402||,C|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000397293|protein_coding|3/4|c.91A>G|p.Asn31Asp|439/2220|91/996|31/331||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|APOL3|ENSG00000128284|transcript|ENST00000424878|protein_coding|3/4|c.-297A>G||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|APOL3|ENSG00000128284|transcript|ENST00000361710|protein_coding|3/4|c.-297A>G||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|APOL3|ENSG00000128284|transcript|ENST00000397287|protein_coding|4/5|c.-297A>G||||||,C|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000424878|protein_coding|3/4|c.-297A>G|||||3711|,C|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000361710|protein_coding|3/4|c.-297A>G|||||3711|,C|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397287|protein_coding|4/5|c.-297A>G|||||3711|,C|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|3/4|n.*107A>G|||||3553|,C|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|4/5|n.*265A>G|||||3827|,C|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|3/4|n.*381A>G|||||3827|,C|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|4/5|n.*327A>G|||||11474|,C|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531195|nonsense_mediated_decay|4/4|n.*376A>G|||||3553|,C|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487783|nonsense_mediated_decay|5/5|n.*398A>G|||||7873|,C|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000485453|processed_transcript||n.*477A>G|||||25|,C|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000530895|nonsense_mediated_decay||n.*113A>G|||||740|,C|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000472303|nonsense_mediated_decay||n.*260A>G|||||3556|,C|intron_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay|3/4|n.*50-20A>G||||||,C|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|3/4|n.*107A>G||||||,C|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|4/5|n.*265A>G||||||,C|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|3/4|n.*381A>G||||||,C|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|4/5|n.*327A>G||||||,C|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487423|processed_transcript|2/3|n.174A>G||||||,C|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000534251|processed_transcript|3/4|n.327A>G||||||,C|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531195|nonsense_mediated_decay|4/4|n.*376A>G||||||,C|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487783|nonsense_mediated_decay|5/5|n.*398A>G||||||,C|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000525184|processed_transcript|3/3|n.315A>G|||||| 22 36556698 . C T . . ANN=T|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487423|processed_transcript||n.-1G>A|||||3714|,T|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000534251|processed_transcript||n.-1G>A|||||3701|,T|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000525184|processed_transcript||n.-1G>A|||||3765|,T|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000485453|processed_transcript||n.-1G>A|||||3712|,T|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000528740|processed_transcript||n.-1G>A|||||3764|,T|intron_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000349314|protein_coding|1/2|c.223+19G>A||||||,T|intron_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397293|protein_coding|1/3|c.-88+19G>A||||||,T|intron_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000424878|protein_coding|2/3|c.-378+19G>A||||||,T|intron_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|1/3|n.223+19G>A||||||,T|intron_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|1/4|n.223+19G>A||||||,T|intron_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|1/3|n.223+19G>A||||||,T|intron_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000361710|protein_coding|2/3|c.-378+19G>A||||||,T|intron_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397287|protein_coding|3/4|c.-378+19G>A||||||,T|intron_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|1/4|n.85+19G>A||||||,T|intron_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay|1/4|n.85+19G>A||||||,T|intron_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531195|nonsense_mediated_decay|1/3|n.85+19G>A||||||,T|intron_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487783|nonsense_mediated_decay|1/4|n.85+19G>A||||||,T|intron_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000530895|nonsense_mediated_decay|1/2|n.85+19G>A||||||,T|intron_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000472303|nonsense_mediated_decay|1/3|n.85+19G>A||||||,T|intron_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531095|protein_coding|1/1|c.115+19G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000533061|processed_transcript|1/1|n.87+19G>A|||||| 22 36556729 . T C . . ANN=C|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000349314|protein_coding|1/3|c.211A>G|p.Arg71Gly|249/2117|211/1209|71/402||,C|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000531095|protein_coding|1/2|c.103A>G|p.Arg35Gly|103/295|103/123|35/40||WARNING_TRANSCRIPT_NO_START_CODON,C|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397293|protein_coding|1/4|c.-100A>G|||||11626|,C|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000424878|protein_coding|2/4|c.-390A>G|||||18873|,C|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000361710|protein_coding|2/4|c.-390A>G|||||18873|,C|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397287|protein_coding|3/5|c.-390A>G|||||18873|,C|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487423|processed_transcript||n.-1A>G|||||3745|,C|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000534251|processed_transcript||n.-1A>G|||||3732|,C|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000525184|processed_transcript||n.-1A>G|||||3796|,C|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000485453|processed_transcript||n.-1A>G|||||3743|,C|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000528740|processed_transcript||n.-1A>G|||||3795|,C|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|1/4|n.211A>G||||||,C|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|1/5|n.211A>G||||||,C|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|1/4|n.211A>G||||||,C|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|1/5|n.73A>G||||||,C|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay|1/5|n.73A>G||||||,C|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531195|nonsense_mediated_decay|1/4|n.73A>G||||||,C|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487783|nonsense_mediated_decay|1/5|n.73A>G||||||,C|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000530895|nonsense_mediated_decay|1/3|n.73A>G||||||,C|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000472303|nonsense_mediated_decay|1/4|n.73A>G||||||,C|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000533061|processed_transcript|1/2|n.75A>G|||||| 22 36556768 . G A . . ANN=A|stop_gained|HIGH|APOL3|ENSG00000128284|transcript|ENST00000349314|protein_coding|1/3|c.172C>T|p.Gln58*|210/2117|172/1209|58/402||,A|stop_gained|HIGH|APOL3|ENSG00000128284|transcript|ENST00000531095|protein_coding|1/2|c.64C>T|p.Gln22*|64/295|64/123|22/40||WARNING_TRANSCRIPT_NO_START_CODON,A|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397293|protein_coding|1/4|c.-139C>T|||||11665|,A|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000424878|protein_coding|2/4|c.-429C>T|||||18912|,A|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000361710|protein_coding|2/4|c.-429C>T|||||18912|,A|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397287|protein_coding|3/5|c.-429C>T|||||18912|,A|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487423|processed_transcript||n.-1C>T|||||3784|,A|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000534251|processed_transcript||n.-1C>T|||||3771|,A|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000525184|processed_transcript||n.-1C>T|||||3835|,A|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000485453|processed_transcript||n.-1C>T|||||3782|,A|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000528740|processed_transcript||n.-1C>T|||||3834|,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|1/4|n.172C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|1/5|n.172C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|1/4|n.172C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|1/5|n.34C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay|1/5|n.34C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531195|nonsense_mediated_decay|1/4|n.34C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487783|nonsense_mediated_decay|1/5|n.34C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000530895|nonsense_mediated_decay|1/3|n.34C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000472303|nonsense_mediated_decay|1/4|n.34C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000533061|processed_transcript|1/2|n.36C>T||||||;LOF=(APOL3|ENSG00000128284|21|0.10);NMD=(APOL3|ENSG00000128284|21|0.10) 22 36556780 . C T . . ANN=T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000349314|protein_coding|1/3|c.160G>A|p.Val54Met|198/2117|160/1209|54/402||,T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000531095|protein_coding|1/2|c.52G>A|p.Val18Met|52/295|52/123|18/40||WARNING_TRANSCRIPT_NO_START_CODON,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|APOL3|ENSG00000128284|transcript|ENST00000397293|protein_coding|1/4|c.-151G>A||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|APOL3|ENSG00000128284|transcript|ENST00000424878|protein_coding|2/4|c.-441G>A||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|APOL3|ENSG00000128284|transcript|ENST00000361710|protein_coding|2/4|c.-441G>A||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|APOL3|ENSG00000128284|transcript|ENST00000397287|protein_coding|3/5|c.-441G>A||||||,T|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397293|protein_coding|1/4|c.-151G>A|||||11677|,T|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000424878|protein_coding|2/4|c.-441G>A|||||18924|,T|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000361710|protein_coding|2/4|c.-441G>A|||||18924|,T|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397287|protein_coding|3/5|c.-441G>A|||||18924|,T|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487423|processed_transcript||n.-1G>A|||||3796|,T|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000534251|processed_transcript||n.-1G>A|||||3783|,T|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000525184|processed_transcript||n.-1G>A|||||3847|,T|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000485453|processed_transcript||n.-1G>A|||||3794|,T|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000528740|processed_transcript||n.-1G>A|||||3846|,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|1/4|n.160G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|1/5|n.160G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|1/4|n.160G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|1/5|n.22G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay|1/5|n.22G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531195|nonsense_mediated_decay|1/4|n.22G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487783|nonsense_mediated_decay|1/5|n.22G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000530895|nonsense_mediated_decay|1/3|n.22G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000472303|nonsense_mediated_decay|1/4|n.22G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000533061|processed_transcript|1/2|n.24G>A|||||| 22 36556823 . G T . . ANN=T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000349314|protein_coding|1/3|c.117C>A|p.Ser39Arg|155/2117|117/1209|39/402||,T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000531095|protein_coding|1/2|c.9C>A|p.Ser3Arg|9/295|9/123|3/40||WARNING_TRANSCRIPT_NO_START_CODON,T|splice_region_variant&intron_variant|LOW|APOL3|ENSG00000128284|transcript|ENST00000424878|protein_coding|1/3|c.-480-4C>A||||||,T|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397293|protein_coding|1/4|c.-194C>A|||||11720|,T|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000361710|protein_coding|2/4|c.-484C>A|||||18967|,T|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397287|protein_coding|3/5|c.-484C>A|||||18967|,T|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay||n.-3C>A|||||20|,T|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487423|processed_transcript||n.-1C>A|||||3839|,T|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay||n.-2C>A|||||21|,T|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000534251|processed_transcript||n.-1C>A|||||3826|,T|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531195|nonsense_mediated_decay||n.-2C>A|||||21|,T|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487783|nonsense_mediated_decay||n.-3C>A|||||20|,T|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000525184|processed_transcript||n.-1C>A|||||3890|,T|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000485453|processed_transcript||n.-1C>A|||||3837|,T|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000530895|nonsense_mediated_decay||n.-3C>A|||||20|,T|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000472303|nonsense_mediated_decay||n.-3C>A|||||20|,T|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000528740|processed_transcript||n.-1C>A|||||3889|,T|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000533061|processed_transcript||n.-1C>A|||||20|,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|1/4|n.117C>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|1/5|n.117C>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|1/4|n.117C>A|||||| 22 36556836 . C A . . ANN=A|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000349314|protein_coding|1/3|c.104G>T|p.Gly35Val|142/2117|104/1209|35/402||,A|splice_region_variant|LOW|APOL3|ENSG00000128284|transcript|ENST00000361710|protein_coding|2/4|c.-497G>T||||||,A|splice_region_variant|LOW|APOL3|ENSG00000128284|transcript|ENST00000397287|protein_coding|3/5|c.-497G>T||||||,A|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397293|protein_coding|1/4|c.-207G>T|||||11733|,A|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000361710|protein_coding|2/4|c.-497G>T|||||18980|,A|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397287|protein_coding|3/5|c.-497G>T|||||18980|,A|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay||n.-3G>T|||||33|,A|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487423|processed_transcript||n.-1G>T|||||3852|,A|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay||n.-2G>T|||||34|,A|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000534251|processed_transcript||n.-1G>T|||||3839|,A|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531195|nonsense_mediated_decay||n.-2G>T|||||34|,A|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487783|nonsense_mediated_decay||n.-3G>T|||||33|,A|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000525184|processed_transcript||n.-1G>T|||||3903|,A|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000485453|processed_transcript||n.-1G>T|||||3850|,A|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000530895|nonsense_mediated_decay||n.-3G>T|||||33|,A|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000472303|nonsense_mediated_decay||n.-3G>T|||||33|,A|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531095|protein_coding||c.-1G>T|||||5|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000528740|processed_transcript||n.-1G>T|||||3902|,A|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000533061|processed_transcript||n.-1G>T|||||33|,A|intron_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000424878|protein_coding|1/3|c.-480-17G>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|1/4|n.104G>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|1/5|n.104G>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|1/4|n.104G>T|||||| 22 36556864 . T C . . ANN=C|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000349314|protein_coding|1/3|c.76A>G|p.Thr26Ala|114/2117|76/1209|26/402||,C|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397293|protein_coding|1/4|c.-235A>G|||||11761|,C|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay||n.-3A>G|||||61|,C|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487423|processed_transcript||n.-1A>G|||||3880|,C|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay||n.-2A>G|||||62|,C|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000534251|processed_transcript||n.-1A>G|||||3867|,C|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531195|nonsense_mediated_decay||n.-2A>G|||||62|,C|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487783|nonsense_mediated_decay||n.-3A>G|||||61|,C|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000525184|processed_transcript||n.-1A>G|||||3931|,C|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000485453|processed_transcript||n.-1A>G|||||3878|,C|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000530895|nonsense_mediated_decay||n.-3A>G|||||61|,C|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000472303|nonsense_mediated_decay||n.-3A>G|||||61|,C|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531095|protein_coding||c.-1A>G|||||33|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000528740|processed_transcript||n.-1A>G|||||3930|,C|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000533061|processed_transcript||n.-1A>G|||||61|,C|intron_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000424878|protein_coding|1/3|c.-480-45A>G||||||,C|intron_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000361710|protein_coding|1/3|c.-498-27A>G||||||,C|intron_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397287|protein_coding|2/4|c.-498-27A>G||||||,C|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|1/4|n.76A>G||||||,C|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|1/5|n.76A>G||||||,C|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|1/4|n.76A>G|||||| 22 36556964 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000349314|protein_coding|1/3|c.-25G>A|||||25|,T|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397293|protein_coding|1/4|c.-335G>A|||||11861|,T|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|1/4|n.-25G>A|||||25|,T|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|1/5|n.-25G>A|||||25|,T|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|1/4|n.-25G>A|||||25|,T|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay||n.-3G>A|||||161|,T|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487423|processed_transcript||n.-1G>A|||||3980|,T|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay||n.-2G>A|||||162|,T|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000534251|processed_transcript||n.-1G>A|||||3967|,T|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531195|nonsense_mediated_decay||n.-2G>A|||||162|,T|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487783|nonsense_mediated_decay||n.-3G>A|||||161|,T|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000525184|processed_transcript||n.-1G>A|||||4031|,T|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000485453|processed_transcript||n.-1G>A|||||3978|,T|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000530895|nonsense_mediated_decay||n.-3G>A|||||161|,T|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000472303|nonsense_mediated_decay||n.-3G>A|||||161|,T|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531095|protein_coding||c.-1G>A|||||133|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000528740|processed_transcript||n.-1G>A|||||4030|,T|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000533061|processed_transcript||n.-1G>A|||||161|,T|intron_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000424878|protein_coding|1/3|c.-480-145G>A||||||,T|intron_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000361710|protein_coding|1/3|c.-498-127G>A||||||,T|intron_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397287|protein_coding|2/4|c.-498-127G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|1/4|n.-25G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|1/5|n.-25G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|1/4|n.-25G>A|||||| 22 36623415 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000451256|protein_coding|6/6|c.*35C>T|||||35|,A|3_prime_UTR_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000358502|protein_coding|5/5|c.*35C>T|||||35|,A|3_prime_UTR_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000249066|protein_coding|6/6|c.*35C>T|||||35|,A|downstream_gene_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000529194|protein_coding||c.*611C>T|||||663|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000454728|protein_coding||c.*577C>T|||||826|WARNING_TRANSCRIPT_INCOMPLETE 22 36623672 . G A . . ANN=A|synonymous_variant|LOW|APOL2|ENSG00000128335|transcript|ENST00000451256|protein_coding|6/6|c.1128C>T|p.Pro376Pro|1137/1421|1128/1350|376/449||,A|synonymous_variant|LOW|APOL2|ENSG00000128335|transcript|ENST00000358502|protein_coding|5/5|c.792C>T|p.Pro264Pro|1128/2544|792/1014|264/337||,A|synonymous_variant|LOW|APOL2|ENSG00000128335|transcript|ENST00000249066|protein_coding|6/6|c.792C>T|p.Pro264Pro|1269/2685|792/1014|264/337||,A|downstream_gene_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000529194|protein_coding||c.*611C>T|||||406|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000454728|protein_coding||c.*577C>T|||||569|WARNING_TRANSCRIPT_INCOMPLETE 22 36623731 . T C . . ANN=C|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000451256|protein_coding|6/6|c.1069A>G|p.Ile357Val|1078/1421|1069/1350|357/449||,C|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000358502|protein_coding|5/5|c.733A>G|p.Ile245Val|1069/2544|733/1014|245/337||,C|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000249066|protein_coding|6/6|c.733A>G|p.Ile245Val|1210/2685|733/1014|245/337||,C|downstream_gene_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000529194|protein_coding||c.*611A>G|||||347|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000454728|protein_coding||c.*577A>G|||||510|WARNING_TRANSCRIPT_INCOMPLETE 22 36623902 . C T . . ANN=T|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000451256|protein_coding|6/6|c.898G>A|p.Gly300Ser|907/1421|898/1350|300/449||,T|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000358502|protein_coding|5/5|c.562G>A|p.Gly188Ser|898/2544|562/1014|188/337||,T|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000249066|protein_coding|6/6|c.562G>A|p.Gly188Ser|1039/2685|562/1014|188/337||,T|downstream_gene_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000529194|protein_coding||c.*611G>A|||||176|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000454728|protein_coding||c.*577G>A|||||339|WARNING_TRANSCRIPT_INCOMPLETE 22 36623920 . G A . . ANN=A|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000451256|protein_coding|6/6|c.880C>T|p.Arg294Cys|889/1421|880/1350|294/449||,A|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000358502|protein_coding|5/5|c.544C>T|p.Arg182Cys|880/2544|544/1014|182/337||,A|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000249066|protein_coding|6/6|c.544C>T|p.Arg182Cys|1021/2685|544/1014|182/337||,A|downstream_gene_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000529194|protein_coding||c.*611C>T|||||158|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000454728|protein_coding||c.*577C>T|||||321|WARNING_TRANSCRIPT_INCOMPLETE 22 36623931 . C T . . ANN=T|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000451256|protein_coding|6/6|c.869G>A|p.Arg290Gln|878/1421|869/1350|290/449||,T|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000358502|protein_coding|5/5|c.533G>A|p.Arg178Gln|869/2544|533/1014|178/337||,T|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000249066|protein_coding|6/6|c.533G>A|p.Arg178Gln|1010/2685|533/1014|178/337||,T|downstream_gene_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000529194|protein_coding||c.*611G>A|||||147|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000454728|protein_coding||c.*577G>A|||||310|WARNING_TRANSCRIPT_INCOMPLETE 22 36623956 . C T . . ANN=T|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000451256|protein_coding|6/6|c.844G>A|p.Glu282Lys|853/1421|844/1350|282/449||,T|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000358502|protein_coding|5/5|c.508G>A|p.Glu170Lys|844/2544|508/1014|170/337||,T|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000249066|protein_coding|6/6|c.508G>A|p.Glu170Lys|985/2685|508/1014|170/337||,T|downstream_gene_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000529194|protein_coding||c.*611G>A|||||122|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000454728|protein_coding||c.*577G>A|||||285|WARNING_TRANSCRIPT_INCOMPLETE 22 36623980 . C T . . ANN=T|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000451256|protein_coding|6/6|c.820G>A|p.Ala274Thr|829/1421|820/1350|274/449||,T|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000358502|protein_coding|5/5|c.484G>A|p.Ala162Thr|820/2544|484/1014|162/337||,T|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000249066|protein_coding|6/6|c.484G>A|p.Ala162Thr|961/2685|484/1014|162/337||,T|downstream_gene_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000529194|protein_coding||c.*611G>A|||||98|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000454728|protein_coding||c.*577G>A|||||261|WARNING_TRANSCRIPT_INCOMPLETE 22 36624123 . G A . . ANN=A|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000451256|protein_coding|6/6|c.677C>T|p.Thr226Ile|686/1421|677/1350|226/449||,A|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000358502|protein_coding|5/5|c.341C>T|p.Thr114Ile|677/2544|341/1014|114/337||,A|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000249066|protein_coding|6/6|c.341C>T|p.Thr114Ile|818/2685|341/1014|114/337||,A|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000529194|protein_coding|5/5|c.341C>T|p.Thr114Ile|566/611|341/386|114/127||WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000454728|protein_coding||c.*577C>T|||||118|WARNING_TRANSCRIPT_INCOMPLETE 22 36624231 . C T . . ANN=T|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000451256|protein_coding|6/6|c.569G>A|p.Arg190Lys|578/1421|569/1350|190/449||,T|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000358502|protein_coding|5/5|c.233G>A|p.Arg78Lys|569/2544|233/1014|78/337||,T|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000249066|protein_coding|6/6|c.233G>A|p.Arg78Lys|710/2685|233/1014|78/337||,T|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000529194|protein_coding|5/5|c.233G>A|p.Arg78Lys|458/611|233/386|78/127||WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000454728|protein_coding||c.*577G>A|||||10|WARNING_TRANSCRIPT_INCOMPLETE 22 36624310 . G A . . ANN=A|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000451256|protein_coding|6/6|c.490C>T|p.Leu164Phe|499/1421|490/1350|164/449||,A|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000358502|protein_coding|5/5|c.154C>T|p.Leu52Phe|490/2544|154/1014|52/337||,A|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000249066|protein_coding|6/6|c.154C>T|p.Leu52Phe|631/2685|154/1014|52/337||,A|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000529194|protein_coding|5/5|c.154C>T|p.Leu52Phe|379/611|154/386|52/127||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000454728|protein_coding|6/6|c.154C>T|p.Leu52Phe|508/577|154/223|52/73||WARNING_TRANSCRIPT_INCOMPLETE 22 36627349 . C T . . ANN=T|intron_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000451256|protein_coding|5/5|c.473+37G>A||||||,T|intron_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000358502|protein_coding|4/4|c.137+37G>A||||||,T|intron_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000249066|protein_coding|5/5|c.137+37G>A||||||,T|intron_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000529194|protein_coding|4/4|c.137+37G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000454728|protein_coding|5/5|c.137+37G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 36627380 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|APOL2|ENSG00000128335|transcript|ENST00000451256|protein_coding|5/5|c.473+6C>T||||||,A|splice_region_variant&intron_variant|LOW|APOL2|ENSG00000128335|transcript|ENST00000358502|protein_coding|4/4|c.137+6C>T||||||,A|splice_region_variant&intron_variant|LOW|APOL2|ENSG00000128335|transcript|ENST00000249066|protein_coding|5/5|c.137+6C>T||||||,A|splice_region_variant&intron_variant|LOW|APOL2|ENSG00000128335|transcript|ENST00000529194|protein_coding|4/4|c.137+6C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|splice_region_variant&intron_variant|LOW|APOL2|ENSG00000128335|transcript|ENST00000454728|protein_coding|5/5|c.137+6C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 36627504 . T C . . ANN=C|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000451256|protein_coding|5/6|c.355A>G|p.Ile119Val|364/1421|355/1350|119/449||,C|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000358502|protein_coding|4/5|c.19A>G|p.Ile7Val|355/2544|19/1014|7/337||,C|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000249066|protein_coding|5/6|c.19A>G|p.Ile7Val|496/2685|19/1014|7/337||,C|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000529194|protein_coding|4/5|c.19A>G|p.Ile7Val|244/611|19/386|7/127||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000454728|protein_coding|5/6|c.19A>G|p.Ile7Val|373/577|19/223|7/73||WARNING_TRANSCRIPT_INCOMPLETE 22 36627521 . AAAG A . . ANN=|intron_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000451256|protein_coding|4/5|c.347-12_347-10delCTT||||||,|intron_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000358502|protein_coding|3/4|c.11-12_11-10delCTT||||||,|intron_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000249066|protein_coding|4/5|c.11-12_11-10delCTT||||||,|intron_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000529194|protein_coding|3/4|c.11-12_11-10delCTT||||||WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000454728|protein_coding|4/5|c.11-12_11-10delCTT||||||WARNING_TRANSCRIPT_INCOMPLETE 22 36629151 . A G . . ANN=G|downstream_gene_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000476579|processed_transcript||n.*583T>C|||||3780|,G|downstream_gene_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000489186|processed_transcript||n.*579T>C|||||3822|,G|downstream_gene_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000473549|processed_transcript||n.*579T>C|||||3828|,G|downstream_gene_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000484830|processed_transcript||n.*527T>C|||||3859|,G|intron_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000451256|protein_coding|4/5|c.346+48T>C||||||,G|intron_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000358502|protein_coding|3/4|c.10+48T>C||||||,G|intron_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000249066|protein_coding|4/5|c.10+48T>C||||||,G|intron_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000529194|protein_coding|3/4|c.10+48T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000454728|protein_coding|4/5|c.10+48T>C||||||WARNING_TRANSCRIPT_INCOMPLETE 22 36629223 . G C . . ANN=C|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000451256|protein_coding|4/6|c.322C>G|p.Pro108Ala|331/1421|322/1350|108/449||,C|TF_binding_site_variant|LOW|||SP1|MA0079.1|||||||||,C|5_prime_UTR_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000358502|protein_coding|3/5|c.-15C>G|||||15|,C|5_prime_UTR_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000249066|protein_coding|4/6|c.-15C>G|||||15|,C|5_prime_UTR_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000529194|protein_coding|3/5|c.-15C>G|||||15|WARNING_TRANSCRIPT_INCOMPLETE,C|5_prime_UTR_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000454728|protein_coding|4/6|c.-15C>G|||||15|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000476579|processed_transcript||n.*583C>G|||||3708|,C|downstream_gene_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000489186|processed_transcript||n.*579C>G|||||3750|,C|downstream_gene_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000473549|processed_transcript||n.*579C>G|||||3756|,C|downstream_gene_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000484830|processed_transcript||n.*527C>G|||||3787| 22 36649965 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|2/7|c.-44G>A|||||44|,A|5_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding|2/6|c.-44G>A|||||44|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|1/5|c.-20+700G>A||||||,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|1/5|c.-59+700G>A||||||,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|1/4|c.-20+700G>A||||||,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay|1/5|n.-20+700G>A||||||,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay|1/4|n.-20+700G>A||||||,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding|1/5|c.-59+700G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|1/2|c.-177+700G>A||||||,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|1/6|c.-20+700G>A||||||,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding|1/5|c.-59+700G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding|1/6|c.-59+700G>A||||||,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay|1/5|n.-20+700G>A||||||,A|non_coding_exon_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000475519|retained_intron|2/5|n.169G>A|||||| 22 36649966 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|2/7|c.-43C>T|||||43|,T|5_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding|2/6|c.-43C>T|||||43|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|1/5|c.-20+701C>T||||||,T|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|1/5|c.-59+701C>T||||||,T|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|1/4|c.-20+701C>T||||||,T|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay|1/5|n.-20+701C>T||||||,T|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay|1/4|n.-20+701C>T||||||,T|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding|1/5|c.-59+701C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|1/2|c.-177+701C>T||||||,T|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|1/6|c.-20+701C>T||||||,T|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding|1/5|c.-59+701C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding|1/6|c.-59+701C>T||||||,T|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay|1/5|n.-20+701C>T||||||,T|non_coding_exon_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000475519|retained_intron|2/5|n.170C>T|||||| 22 36649967 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|2/7|c.-42G>A|||||42|,A|5_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding|2/6|c.-42G>A|||||42|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|1/5|c.-20+702G>A||||||,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|1/5|c.-59+702G>A||||||,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|1/4|c.-20+702G>A||||||,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay|1/5|n.-20+702G>A||||||,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay|1/4|n.-20+702G>A||||||,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding|1/5|c.-59+702G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|1/2|c.-177+702G>A||||||,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|1/6|c.-20+702G>A||||||,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding|1/5|c.-59+702G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding|1/6|c.-59+702G>A||||||,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay|1/5|n.-20+702G>A||||||,A|non_coding_exon_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000475519|retained_intron|2/5|n.171G>A|||||| 22 36649988 . C G . . ANN=G|5_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|2/7|c.-21C>G|||||21|,G|5_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding|2/6|c.-21C>G|||||21|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|1/5|c.-20+723C>G||||||,G|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|1/5|c.-59+723C>G||||||,G|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|1/4|c.-20+723C>G||||||,G|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay|1/5|n.-20+723C>G||||||,G|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay|1/4|n.-20+723C>G||||||,G|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding|1/5|c.-59+723C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|1/2|c.-177+723C>G||||||,G|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|1/6|c.-20+723C>G||||||,G|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding|1/5|c.-59+723C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding|1/6|c.-59+723C>G||||||,G|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay|1/5|n.-20+723C>G||||||,G|non_coding_exon_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000475519|retained_intron|2/5|n.192C>G|||||| 22 36650004 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|2/7|c.-5C>T|||||5|,T|5_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding|2/6|c.-5C>T|||||5|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|1/5|c.-20+739C>T||||||,T|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|1/5|c.-59+739C>T||||||,T|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|1/4|c.-20+739C>T||||||,T|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay|1/5|n.-20+739C>T||||||,T|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay|1/4|n.-20+739C>T||||||,T|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding|1/5|c.-59+739C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|1/2|c.-177+739C>T||||||,T|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|1/6|c.-20+739C>T||||||,T|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding|1/5|c.-59+739C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding|1/6|c.-59+739C>T||||||,T|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay|1/5|n.-20+739C>T||||||,T|non_coding_exon_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000475519|retained_intron|2/5|n.208C>T|||||| 22 36650951 . A C . . ANN=C|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding|3/6|c.37A>C|p.Thr13Pro|249/566|37/354|13/117||WARNING_TRANSCRIPT_NO_STOP_CODON,C|5_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|2/6|c.-51A>C|||||51|,C|5_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding|2/6|c.-51A>C|||||51|WARNING_TRANSCRIPT_INCOMPLETE,C|5_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding|2/6|c.-51A>C|||||51|WARNING_TRANSCRIPT_INCOMPLETE,C|5_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding|2/7|c.-51A>C|||||51|,C|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|2/6|c.30-32A>C||||||,C|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|1/5|c.-19-32A>C||||||,C|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|1/4|c.-19-32A>C||||||,C|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay|1/5|n.-19-32A>C||||||,C|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000475519|retained_intron|2/4|n.242-32A>C||||||,C|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay|1/4|n.-19-32A>C||||||,C|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|1/2|c.-177+1686A>C||||||,C|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|1/6|c.-19-32A>C||||||,C|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay|1/5|n.-19-32A>C|||||| 22 36650956 . G A . . ANN=A|synonymous_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding|3/6|c.42G>A|p.Leu14Leu|254/566|42/354|14/117||WARNING_TRANSCRIPT_NO_STOP_CODON,A|5_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|2/6|c.-46G>A|||||46|,A|5_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding|2/6|c.-46G>A|||||46|WARNING_TRANSCRIPT_INCOMPLETE,A|5_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding|2/6|c.-46G>A|||||46|WARNING_TRANSCRIPT_INCOMPLETE,A|5_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding|2/7|c.-46G>A|||||46|,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|2/6|c.30-27G>A||||||,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|1/5|c.-19-27G>A||||||,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|1/4|c.-19-27G>A||||||,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay|1/5|n.-19-27G>A||||||,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000475519|retained_intron|2/4|n.242-27G>A||||||,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay|1/4|n.-19-27G>A||||||,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|1/2|c.-177+1691G>A||||||,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|1/6|c.-19-27G>A||||||,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay|1/5|n.-19-27G>A|||||| 22 36650962 . A G . . ANN=G|synonymous_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding|3/6|c.48A>G|p.Gln16Gln|260/566|48/354|16/117||WARNING_TRANSCRIPT_NO_STOP_CODON,G|5_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|2/6|c.-40A>G|||||40|,G|5_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding|2/6|c.-40A>G|||||40|WARNING_TRANSCRIPT_INCOMPLETE,G|5_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding|2/6|c.-40A>G|||||40|WARNING_TRANSCRIPT_INCOMPLETE,G|5_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding|2/7|c.-40A>G|||||40|,G|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|2/6|c.30-21A>G||||||,G|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|1/5|c.-19-21A>G||||||,G|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|1/4|c.-19-21A>G||||||,G|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay|1/5|n.-19-21A>G||||||,G|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000475519|retained_intron|2/4|n.242-21A>G||||||,G|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay|1/4|n.-19-21A>G||||||,G|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|1/2|c.-177+1697A>G||||||,G|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|1/6|c.-19-21A>G||||||,G|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay|1/5|n.-19-21A>G|||||| 22 36650998 . C T . . ANN=T|synonymous_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|3/7|c.45C>T|p.Ser15Ser|312/3000|45/1245|15/414||,T|synonymous_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding|3/6|c.84C>T|p.Ser28Ser|296/566|84/354|28/117||WARNING_TRANSCRIPT_NO_STOP_CODON,T|5_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|2/6|c.-4C>T|||||4|,T|5_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|2/6|c.-4C>T|||||4|,T|5_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|2/5|c.-4C>T|||||4|,T|5_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay|2/6|n.-4C>T|||||4|,T|5_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay|2/5|n.-4C>T|||||4|,T|5_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding|2/6|c.-4C>T|||||4|WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|2/7|c.-4C>T|||||4|,T|5_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding|2/6|c.-4C>T|||||4|WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding|2/7|c.-4C>T|||||4|,T|5_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay|2/6|n.-4C>T|||||4|,T|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|1/2|c.-177+1733C>T||||||,T|non_coding_exon_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay|2/6|n.-4C>T||||||,T|non_coding_exon_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000475519|retained_intron|3/5|n.257C>T||||||,T|non_coding_exon_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay|2/5|n.-4C>T||||||,T|non_coding_exon_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay|2/6|n.-4C>T|||||| 22 36651066 . T A . . ANN=A|sequence_feature|LOW|APOL1|ENSG00000100342|signal_peptide|ENST00000397279|protein_coding|2/7|c.44+21T>A||||||,A|sequence_feature|LOW|APOL1|ENSG00000100342|signal_peptide|ENST00000397279|protein_coding|3/7|c.44+21T>A||||||,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|3/6|c.92+21T>A||||||,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|2/5|c.44+21T>A||||||,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|2/5|c.44+21T>A||||||,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|2/4|c.44+21T>A||||||,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay|2/5|n.44+21T>A||||||,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000475519|retained_intron|3/4|n.304+21T>A||||||,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding|3/5|c.131+21T>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay|2/4|n.44+21T>A||||||,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding|2/5|c.44+21T>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|1/2|c.-177+1801T>A||||||,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|2/6|c.44+21T>A||||||,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding|2/5|c.44+21T>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding|2/6|c.44+21T>A||||||,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay|2/5|n.44+21T>A|||||| 22 36651089 . G A . . ANN=A|sequence_feature|LOW|APOL1|ENSG00000100342|signal_peptide|ENST00000397279|protein_coding|2/7|c.44+44G>A||||||,A|sequence_feature|LOW|APOL1|ENSG00000100342|signal_peptide|ENST00000397279|protein_coding|3/7|c.44+44G>A||||||,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|3/6|c.92+44G>A||||||,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|2/5|c.44+44G>A||||||,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|2/5|c.44+44G>A||||||,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|2/4|c.44+44G>A||||||,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay|2/5|n.44+44G>A||||||,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000475519|retained_intron|3/4|n.304+44G>A||||||,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding|3/5|c.131+44G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay|2/4|n.44+44G>A||||||,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding|2/5|c.44+44G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|1/2|c.-177+1824G>A||||||,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|2/6|c.44+44G>A||||||,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding|2/5|c.44+44G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding|2/6|c.44+44G>A||||||,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay|2/5|n.44+44G>A|||||| 22 36653091 . GC G . . ANN=|sequence_feature|LOW|APOL1|ENSG00000100342|signal_peptide|ENST00000397279|protein_coding|2/7|c.45-37delC||||||,|sequence_feature|LOW|APOL1|ENSG00000100342|signal_peptide|ENST00000397279|protein_coding|3/7|c.45-37delC||||||,|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|3/6|c.93-35delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|2/5|c.45-35delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|2/5|c.45-35delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|2/4|c.45-271delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay|2/5|n.45-35delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000475519|retained_intron|3/4|n.305-35delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding|3/5|c.132-35delC||||||WARNING_TRANSCRIPT_NO_STOP_CODON&INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay|2/4|n.45-271delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding|2/5|c.45-35delC||||||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|1/2|c.-177+3829delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|2/6|c.45-35delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding|2/5|c.45-35delC||||||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding|2/6|c.45-35delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay|2/5|n.45-35delC||||||INFO_REALIGN_3_PRIME 22 36653143 . T C . . ANN=C|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|4/7|c.107T>C|p.Phe36Ser|374/3000|107/1245|36/414||,C|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|3/6|c.59T>C|p.Phe20Ser|288/2918|59/1197|20/398||,C|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|3/6|c.59T>C|p.Phe20Ser|266/2901|59/1197|20/398||,C|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding|4/6|c.146T>C|p.Phe49Ser|358/566|146/354|49/117||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding|3/6|c.59T>C|p.Phe20Ser|204/624|59/479|20/158||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|3/7|c.59T>C|p.Phe20Ser|157/1564|59/1197|20/398||,C|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding|3/6|c.59T>C|p.Phe20Ser|176/541|59/424|20/140||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding|3/7|c.59T>C|p.Phe20Ser|176/1033|59/426|20/141||,C|sequence_feature|LOW|APOL1|ENSG00000100342|signal_peptide|ENST00000397279|protein_coding|2/7|c.59T>C||||||,C|sequence_feature|LOW|APOL1|ENSG00000100342|signal_peptide|ENST00000397279|protein_coding|3/7|c.59T>C||||||,C|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|2/4|c.45-222T>C||||||,C|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay|2/4|n.45-222T>C||||||,C|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|1/2|c.-177+3878T>C||||||,C|non_coding_exon_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay|3/6|n.59T>C||||||,C|non_coding_exon_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000475519|retained_intron|4/5|n.319T>C||||||,C|non_coding_exon_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay|3/6|n.59T>C|||||| 22 36657596 . A G . . ANN=G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000475519|retained_intron||n.*600A>G|||||3990|,G|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|5/6|c.236-46A>G||||||,G|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|4/5|c.188-46A>G||||||,G|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|4/5|c.188-46A>G||||||,G|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|3/4|c.134-46A>G||||||,G|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay|5/5|n.376-46A>G||||||,G|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding|5/5|c.275-46A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay|4/4|n.322-46A>G||||||,G|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding|4/5|c.188-46A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|1/2|c.-176-46A>G||||||,G|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|4/6|c.188-46A>G||||||,G|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding|5/5|c.376-46A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding|5/6|c.376-46A>G||||||,G|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay|5/5|n.*9-46A>G|||||| 22 36657628 . T G . . ANN=G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000475519|retained_intron||n.*600T>G|||||4022|,G|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|5/6|c.236-14T>G||||||,G|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|4/5|c.188-14T>G||||||,G|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|4/5|c.188-14T>G||||||,G|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|3/4|c.134-14T>G||||||,G|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay|5/5|n.376-14T>G||||||,G|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding|5/5|c.275-14T>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay|4/4|n.322-14T>G||||||,G|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding|4/5|c.188-14T>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|1/2|c.-176-14T>G||||||,G|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|4/6|c.188-14T>G||||||,G|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding|5/5|c.376-14T>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding|5/6|c.376-14T>G||||||,G|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay|5/5|n.*9-14T>G|||||| 22 36657740 . G A . . ANN=A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|6/7|c.334G>A|p.Gly112Arg|601/3000|334/1245|112/414||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|5/6|c.286G>A|p.Gly96Arg|515/2918|286/1197|96/398||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|5/6|c.286G>A|p.Gly96Arg|493/2901|286/1197|96/398||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|4/5|c.232G>A|p.Gly78Arg|400/2808|232/1143|78/380||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding|5/6|c.286G>A|p.Gly96Arg|431/624|286/479|96/158||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|5/7|c.286G>A|p.Gly96Arg|384/1564|286/1197|96/398||,A|5_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|2/3|c.-78G>A|||||3506|,A|3_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay|5/5|n.*48G>A|||||48|,A|3_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding|6/7|c.*48G>A|||||48|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay||n.*534G>A|||||21|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000475519|retained_intron||n.*600G>A|||||4134|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding||c.*566G>A|||||19|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding||c.*541G>A|||||50|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay||n.*504G>A|||||61|,A|non_coding_exon_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay|5/5|n.*48G>A|||||| 22 36657789 . T C . . ANN=C|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay||n.*534T>C|||||70|,C|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000475519|retained_intron||n.*600T>C|||||4183|,C|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding||c.*566T>C|||||68|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay||n.*478T>C|||||44|,C|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding||c.*541T>C|||||99|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay||n.*504T>C|||||110|,C|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|6/6|c.362+21T>C||||||,C|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|5/5|c.314+21T>C||||||,C|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|5/5|c.314+21T>C||||||,C|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|4/4|c.260+21T>C||||||,C|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding|5/5|c.314+21T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|2/2|c.-50+21T>C||||||,C|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|5/6|c.314+21T>C||||||,C|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding|6/6|c.*76+21T>C|||||| 22 36657806 . C CTA . . ANN=TA|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay||n.*534_*534insTA|||||88|,TA|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000475519|retained_intron||n.*600_*600insTA|||||4201|,TA|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding||c.*566_*566insTA|||||86|WARNING_TRANSCRIPT_NO_STOP_CODON,TA|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay||n.*478_*478insTA|||||62|,TA|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding||c.*541_*541insTA|||||117|WARNING_TRANSCRIPT_INCOMPLETE,TA|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay||n.*504_*504insTA|||||128|,TA|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|6/6|c.362+38_362+39insTA||||||,TA|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|5/5|c.314+38_314+39insTA||||||,TA|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|5/5|c.314+38_314+39insTA||||||,TA|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|4/4|c.260+38_260+39insTA||||||,TA|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding|5/5|c.314+38_314+39insTA||||||WARNING_TRANSCRIPT_INCOMPLETE,TA|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|2/2|c.-50+38_-50+39insTA||||||,TA|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|5/6|c.314+38_314+39insTA||||||,TA|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding|6/6|c.*76+38_*76+39insTA|||||| 22 36657814 . C T . . ANN=T|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay||n.*534C>T|||||95|,T|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000475519|retained_intron||n.*600C>T|||||4208|,T|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding||c.*566C>T|||||93|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay||n.*478C>T|||||69|,T|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding||c.*541C>T|||||124|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay||n.*504C>T|||||135|,T|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|6/6|c.362+46C>T||||||,T|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|5/5|c.314+46C>T||||||,T|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|5/5|c.314+46C>T||||||,T|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|4/4|c.260+46C>T||||||,T|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding|5/5|c.314+46C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|2/2|c.-50+46C>T||||||,T|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|5/6|c.314+46C>T||||||,T|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding|6/6|c.*76+46C>T|||||| 22 36661148 . C T . . ANN=T|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay||n.*534C>T|||||3429|,T|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding||c.*566C>T|||||3427|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay||n.*478C>T|||||3403|,T|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding||c.*541C>T|||||3458|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay||n.*504C>T|||||3469|,T|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|6/6|c.363-49C>T||||||,T|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|5/5|c.315-49C>T||||||,T|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|5/5|c.315-49C>T||||||,T|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|4/4|c.261-49C>T||||||,T|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding|5/5|c.315-49C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|2/2|c.-49-49C>T||||||,T|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|5/6|c.315-49C>T||||||,T|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding|6/6|c.*77-49C>T|||||| 22 36661149 . A G . . ANN=G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay||n.*534A>G|||||3430|,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding||c.*566A>G|||||3428|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay||n.*478A>G|||||3404|,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding||c.*541A>G|||||3459|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay||n.*504A>G|||||3470|,G|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|6/6|c.363-48A>G||||||,G|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|5/5|c.315-48A>G||||||,G|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|5/5|c.315-48A>G||||||,G|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|4/4|c.261-48A>G||||||,G|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding|5/5|c.315-48A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|2/2|c.-49-48A>G||||||,G|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|5/6|c.315-48A>G||||||,G|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding|6/6|c.*77-48A>G|||||| 22 36661152 . G A . . ANN=A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay||n.*534G>A|||||3433|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding||c.*566G>A|||||3431|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay||n.*478G>A|||||3407|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding||c.*541G>A|||||3462|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay||n.*504G>A|||||3473|,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|6/6|c.363-45G>A||||||,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|5/5|c.315-45G>A||||||,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|5/5|c.315-45G>A||||||,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|4/4|c.261-45G>A||||||,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding|5/5|c.315-45G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|2/2|c.-49-45G>A||||||,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|5/6|c.315-45G>A||||||,A|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding|6/6|c.*77-45G>A|||||| 22 36661190 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|6/6|c.363-7T>C||||||,C|splice_region_variant&intron_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|5/5|c.315-7T>C||||||,C|splice_region_variant&intron_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|5/5|c.315-7T>C||||||,C|splice_region_variant&intron_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|4/4|c.261-7T>C||||||,C|splice_region_variant&intron_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding|5/5|c.315-7T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|splice_region_variant&intron_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|2/2|c.-49-7T>C||||||,C|splice_region_variant&intron_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|5/6|c.315-7T>C||||||,C|splice_region_variant&intron_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding|6/6|c.*77-7T>C||||||,C|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay||n.*534T>C|||||3471|,C|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding||c.*566T>C|||||3469|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay||n.*478T>C|||||3445|,C|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding||c.*541T>C|||||3500|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay||n.*504T>C|||||3511| 22 36661200 . T C . . ANN=C|synonymous_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|7/7|c.366T>C|p.Asn122Asn|633/3000|366/1245|122/414||,C|synonymous_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|6/6|c.318T>C|p.Asn106Asn|547/2918|318/1197|106/398||,C|synonymous_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|6/6|c.318T>C|p.Asn106Asn|525/2901|318/1197|106/398||,C|synonymous_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|5/5|c.264T>C|p.Asn88Asn|432/2808|264/1143|88/380||,C|synonymous_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding|6/6|c.318T>C|p.Asn106Asn|463/624|318/479|106/158||WARNING_TRANSCRIPT_INCOMPLETE,C|synonymous_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|6/7|c.318T>C|p.Asn106Asn|416/1564|318/1197|106/398||,C|5_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|3/3|c.-46T>C|||||46|,C|3_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding|7/7|c.*80T>C|||||3508|,C|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay||n.*534T>C|||||3481|,C|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding||c.*566T>C|||||3479|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay||n.*478T>C|||||3455|,C|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding||c.*541T>C|||||3510|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay||n.*504T>C|||||3521| 22 36661222 . G A . . ANN=A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|7/7|c.388G>A|p.Ala130Thr|655/3000|388/1245|130/414||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|6/6|c.340G>A|p.Ala114Thr|569/2918|340/1197|114/398||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|6/6|c.340G>A|p.Ala114Thr|547/2901|340/1197|114/398||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|5/5|c.286G>A|p.Ala96Thr|454/2808|286/1143|96/380||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding|6/6|c.340G>A|p.Ala114Thr|485/624|340/479|114/158||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|6/7|c.340G>A|p.Ala114Thr|438/1564|340/1197|114/398||,A|5_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|3/3|c.-24G>A|||||24|,A|3_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding|7/7|c.*102G>A|||||3530|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay||n.*534G>A|||||3503|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding||c.*566G>A|||||3501|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay||n.*478G>A|||||3477|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding||c.*541G>A|||||3532|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay||n.*504G>A|||||3543| 22 36661330 . G A . . ANN=A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|7/7|c.496G>A|p.Glu166Lys|763/3000|496/1245|166/414||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|6/6|c.448G>A|p.Glu150Lys|677/2918|448/1197|150/398||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|6/6|c.448G>A|p.Glu150Lys|655/2901|448/1197|150/398||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|5/5|c.394G>A|p.Glu132Lys|562/2808|394/1143|132/380||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding|6/6|c.448G>A|p.Glu150Lys|593/624|448/479|150/158||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|3/3|c.85G>A|p.Glu29Lys|346/1223|85/834|29/277||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|6/7|c.448G>A|p.Glu150Lys|546/1564|448/1197|150/398||,A|3_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding|7/7|c.*210G>A|||||3638|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay||n.*534G>A|||||3611|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding||c.*566G>A|||||3609|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay||n.*478G>A|||||3585|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding||c.*541G>A|||||3640|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay||n.*504G>A|||||3651| 22 36661354 . C T . . ANN=T|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|7/7|c.520C>T|p.Leu174Phe|787/3000|520/1245|174/414||,T|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|6/6|c.472C>T|p.Leu158Phe|701/2918|472/1197|158/398||,T|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|6/6|c.472C>T|p.Leu158Phe|679/2901|472/1197|158/398||,T|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|5/5|c.418C>T|p.Leu140Phe|586/2808|418/1143|140/380||,T|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding|6/6|c.472C>T|p.Leu158Phe|617/624|472/479|158/158||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|3/3|c.109C>T|p.Leu37Phe|370/1223|109/834|37/277||,T|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|6/7|c.472C>T|p.Leu158Phe|570/1564|472/1197|158/398||,T|3_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding|7/7|c.*234C>T|||||3662|,T|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay||n.*534C>T|||||3635|,T|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding||c.*566C>T|||||3633|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay||n.*478C>T|||||3609|,T|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding||c.*541C>T|||||3664|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay||n.*504C>T|||||3675| 22 36661409 . A G . . ANN=G|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|7/7|c.575A>G|p.Asn192Ser|842/3000|575/1245|192/414||,G|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|6/6|c.527A>G|p.Asn176Ser|756/2918|527/1197|176/398||,G|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|6/6|c.527A>G|p.Asn176Ser|734/2901|527/1197|176/398||,G|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|5/5|c.473A>G|p.Asn158Ser|641/2808|473/1143|158/380||,G|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|3/3|c.164A>G|p.Asn55Ser|425/1223|164/834|55/277||,G|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|6/7|c.527A>G|p.Asn176Ser|625/1564|527/1197|176/398||,G|3_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding|7/7|c.*289A>G|||||3717|,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay||n.*534A>G|||||3690|,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding||c.*566A>G|||||3688|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay||n.*478A>G|||||3664|,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding||c.*624A>G|||||48|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding||c.*541A>G|||||3719|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay||n.*504A>G|||||3730| 22 36661455 . C T . . ANN=T|synonymous_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|7/7|c.621C>T|p.Leu207Leu|888/3000|621/1245|207/414||,T|synonymous_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|6/6|c.573C>T|p.Leu191Leu|802/2918|573/1197|191/398||,T|synonymous_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|6/6|c.573C>T|p.Leu191Leu|780/2901|573/1197|191/398||,T|synonymous_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|5/5|c.519C>T|p.Leu173Leu|687/2808|519/1143|173/380||,T|synonymous_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|3/3|c.210C>T|p.Leu70Leu|471/1223|210/834|70/277||,T|synonymous_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|6/7|c.573C>T|p.Leu191Leu|671/1564|573/1197|191/398||,T|3_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding|7/7|c.*335C>T|||||3763|,T|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay||n.*534C>T|||||3736|,T|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding||c.*566C>T|||||3734|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay||n.*478C>T|||||3710|,T|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding||c.*624C>T|||||94|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding||c.*541C>T|||||3765|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay||n.*504C>T|||||3776| 22 36661536 . C A . . ANN=A|synonymous_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|7/7|c.702C>A|p.Ala234Ala|969/3000|702/1245|234/414||,A|synonymous_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|6/6|c.654C>A|p.Ala218Ala|883/2918|654/1197|218/398||,A|synonymous_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|6/6|c.654C>A|p.Ala218Ala|861/2901|654/1197|218/398||,A|synonymous_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|5/5|c.600C>A|p.Ala200Ala|768/2808|600/1143|200/380||,A|synonymous_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|3/3|c.291C>A|p.Ala97Ala|552/1223|291/834|97/277||,A|synonymous_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|6/7|c.654C>A|p.Ala218Ala|752/1564|654/1197|218/398||,A|3_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding|7/7|c.*416C>A|||||3844|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay||n.*534C>A|||||3817|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding||c.*566C>A|||||3815|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay||n.*478C>A|||||3791|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding||c.*624C>A|||||175|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding||c.*541C>A|||||3846|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay||n.*504C>A|||||3857| 22 36661566 . G A . . ANN=A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|7/7|c.732G>A|p.Met244Ile|999/3000|732/1245|244/414||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|6/6|c.684G>A|p.Met228Ile|913/2918|684/1197|228/398||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|6/6|c.684G>A|p.Met228Ile|891/2901|684/1197|228/398||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|5/5|c.630G>A|p.Met210Ile|798/2808|630/1143|210/380||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|3/3|c.321G>A|p.Met107Ile|582/1223|321/834|107/277||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|6/7|c.684G>A|p.Met228Ile|782/1564|684/1197|228/398||,A|3_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding|7/7|c.*446G>A|||||3874|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay||n.*534G>A|||||3847|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding||c.*566G>A|||||3845|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay||n.*478G>A|||||3821|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding||c.*624G>A|||||205|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding||c.*541G>A|||||3876|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay||n.*504G>A|||||3887| 22 36661646 . G A . . ANN=A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|7/7|c.812G>A|p.Arg271Lys|1079/3000|812/1245|271/414||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|6/6|c.764G>A|p.Arg255Lys|993/2918|764/1197|255/398||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|6/6|c.764G>A|p.Arg255Lys|971/2901|764/1197|255/398||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|5/5|c.710G>A|p.Arg237Lys|878/2808|710/1143|237/380||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|3/3|c.401G>A|p.Arg134Lys|662/1223|401/834|134/277||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|6/7|c.764G>A|p.Arg255Lys|862/1564|764/1197|255/398||,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay||n.*534G>A|||||3927|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding||c.*566G>A|||||3925|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay||n.*478G>A|||||3901|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding||c.*624G>A|||||285|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding||c.*541G>A|||||3956|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding||c.*543G>A|||||36|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay||n.*504G>A|||||3967| 22 36661649 . A G . . ANN=G|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|7/7|c.815A>G|p.Glu272Gly|1082/3000|815/1245|272/414||,G|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|6/6|c.767A>G|p.Glu256Gly|996/2918|767/1197|256/398||,G|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|6/6|c.767A>G|p.Glu256Gly|974/2901|767/1197|256/398||,G|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|5/5|c.713A>G|p.Glu238Gly|881/2808|713/1143|238/380||,G|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|3/3|c.404A>G|p.Glu135Gly|665/1223|404/834|135/277||,G|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|6/7|c.767A>G|p.Glu256Gly|865/1564|767/1197|256/398||,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay||n.*534A>G|||||3930|,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding||c.*566A>G|||||3928|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay||n.*478A>G|||||3904|,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding||c.*624A>G|||||288|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding||c.*541A>G|||||3959|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding||c.*543A>G|||||39|,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay||n.*504A>G|||||3970| 22 36661674 . C A . . ANN=A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|7/7|c.840C>A|p.Asn280Lys|1107/3000|840/1245|280/414||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|6/6|c.792C>A|p.Asn264Lys|1021/2918|792/1197|264/398||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|6/6|c.792C>A|p.Asn264Lys|999/2901|792/1197|264/398||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|5/5|c.738C>A|p.Asn246Lys|906/2808|738/1143|246/380||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|3/3|c.429C>A|p.Asn143Lys|690/1223|429/834|143/277||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|6/7|c.792C>A|p.Asn264Lys|890/1564|792/1197|264/398||,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay||n.*534C>A|||||3955|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding||c.*566C>A|||||3953|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay||n.*478C>A|||||3929|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding||c.*624C>A|||||313|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding||c.*541C>A|||||3984|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding||c.*543C>A|||||64|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay||n.*504C>A|||||3995| 22 36661691 . G A . . ANN=A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|7/7|c.857G>A|p.Gly286Asp|1124/3000|857/1245|286/414||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|6/6|c.809G>A|p.Gly270Asp|1038/2918|809/1197|270/398||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|6/6|c.809G>A|p.Gly270Asp|1016/2901|809/1197|270/398||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|5/5|c.755G>A|p.Gly252Asp|923/2808|755/1143|252/380||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|3/3|c.446G>A|p.Gly149Asp|707/1223|446/834|149/277||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|6/7|c.809G>A|p.Gly270Asp|907/1564|809/1197|270/398||,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay||n.*534G>A|||||3972|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding||c.*566G>A|||||3970|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay||n.*478G>A|||||3946|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding||c.*624G>A|||||330|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding||c.*541G>A|||||4001|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding||c.*543G>A|||||81|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay||n.*504G>A|||||4012| 22 36661733 . G A . . ANN=A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|7/7|c.899G>A|p.Arg300His|1166/3000|899/1245|300/414||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|6/6|c.851G>A|p.Arg284His|1080/2918|851/1197|284/398||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|6/6|c.851G>A|p.Arg284His|1058/2901|851/1197|284/398||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|5/5|c.797G>A|p.Arg266His|965/2808|797/1143|266/380||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|3/3|c.488G>A|p.Arg163His|749/1223|488/834|163/277||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|6/7|c.851G>A|p.Arg284His|949/1564|851/1197|284/398||,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay||n.*534G>A|||||4014|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding||c.*566G>A|||||4012|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay||n.*478G>A|||||3988|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding||c.*624G>A|||||372|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding||c.*541G>A|||||4043|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding||c.*543G>A|||||123|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay||n.*504G>A|||||4054| 22 36661744 . C A . . ANN=A|synonymous_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|7/7|c.910C>A|p.Arg304Arg|1177/3000|910/1245|304/414||,A|synonymous_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|6/6|c.862C>A|p.Arg288Arg|1091/2918|862/1197|288/398||,A|synonymous_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|6/6|c.862C>A|p.Arg288Arg|1069/2901|862/1197|288/398||,A|synonymous_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|5/5|c.808C>A|p.Arg270Arg|976/2808|808/1143|270/380||,A|synonymous_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|3/3|c.499C>A|p.Arg167Arg|760/1223|499/834|167/277||,A|synonymous_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|6/7|c.862C>A|p.Arg288Arg|960/1564|862/1197|288/398||,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay||n.*534C>A|||||4025|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding||c.*566C>A|||||4023|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay||n.*478C>A|||||3999|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding||c.*624C>A|||||383|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding||c.*541C>A|||||4054|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding||c.*543C>A|||||134|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay||n.*504C>A|||||4065| 22 36661791 . C T . . ANN=T|synonymous_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|7/7|c.957C>T|p.Arg319Arg|1224/3000|957/1245|319/414||,T|synonymous_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|6/6|c.909C>T|p.Arg303Arg|1138/2918|909/1197|303/398||,T|synonymous_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|6/6|c.909C>T|p.Arg303Arg|1116/2901|909/1197|303/398||,T|synonymous_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|5/5|c.855C>T|p.Arg285Arg|1023/2808|855/1143|285/380||,T|synonymous_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|3/3|c.546C>T|p.Arg182Arg|807/1223|546/834|182/277||,T|synonymous_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|6/7|c.909C>T|p.Arg303Arg|1007/1564|909/1197|303/398||,T|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay||n.*534C>T|||||4072|,T|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding||c.*566C>T|||||4070|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay||n.*478C>T|||||4046|,T|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding||c.*624C>T|||||430|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding||c.*541C>T|||||4101|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding||c.*543C>T|||||181|,T|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay||n.*504C>T|||||4112| 22 36661842 . G A . . ANN=A|synonymous_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|7/7|c.1008G>A|p.Arg336Arg|1275/3000|1008/1245|336/414||,A|synonymous_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|6/6|c.960G>A|p.Arg320Arg|1189/2918|960/1197|320/398||,A|synonymous_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|6/6|c.960G>A|p.Arg320Arg|1167/2901|960/1197|320/398||,A|synonymous_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|5/5|c.906G>A|p.Arg302Arg|1074/2808|906/1143|302/380||,A|synonymous_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|3/3|c.597G>A|p.Arg199Arg|858/1223|597/834|199/277||,A|synonymous_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|6/7|c.960G>A|p.Arg320Arg|1058/1564|960/1197|320/398||,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay||n.*534G>A|||||4123|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding||c.*566G>A|||||4121|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay||n.*478G>A|||||4097|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding||c.*624G>A|||||481|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding||c.*541G>A|||||4152|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding||c.*543G>A|||||232|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay||n.*504G>A|||||4163| 22 36661891 . G A . . ANN=A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|7/7|c.1057G>A|p.Asp353Asn|1324/3000|1057/1245|353/414||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|6/6|c.1009G>A|p.Asp337Asn|1238/2918|1009/1197|337/398||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|6/6|c.1009G>A|p.Asp337Asn|1216/2901|1009/1197|337/398||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|5/5|c.955G>A|p.Asp319Asn|1123/2808|955/1143|319/380||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|3/3|c.646G>A|p.Asp216Asn|907/1223|646/834|216/277||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|6/7|c.1009G>A|p.Asp337Asn|1107/1564|1009/1197|337/398||,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay||n.*534G>A|||||4172|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding||c.*566G>A|||||4170|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay||n.*478G>A|||||4146|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding||c.*624G>A|||||530|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding||c.*541G>A|||||4201|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding||c.*543G>A|||||281|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay||n.*504G>A|||||4212| 22 36661906 . A G . . ANN=G|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|7/7|c.1072A>G|p.Ser358Gly|1339/3000|1072/1245|358/414||,G|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|6/6|c.1024A>G|p.Ser342Gly|1253/2918|1024/1197|342/398||,G|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|6/6|c.1024A>G|p.Ser342Gly|1231/2901|1024/1197|342/398||,G|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|5/5|c.970A>G|p.Ser324Gly|1138/2808|970/1143|324/380||,G|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|3/3|c.661A>G|p.Ser221Gly|922/1223|661/834|221/277||,G|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|6/7|c.1024A>G|p.Ser342Gly|1122/1564|1024/1197|342/398||,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay||n.*534A>G|||||4187|,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding||c.*566A>G|||||4185|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay||n.*478A>G|||||4161|,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding||c.*624A>G|||||545|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding||c.*541A>G|||||4216|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding||c.*543A>G|||||296|,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay||n.*504A>G|||||4227| 22 36661998 . G A . . ANN=A|synonymous_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|7/7|c.1164G>A|p.Lys388Lys|1431/3000|1164/1245|388/414||,A|synonymous_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|6/6|c.1116G>A|p.Lys372Lys|1345/2918|1116/1197|372/398||,A|synonymous_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|6/6|c.1116G>A|p.Lys372Lys|1323/2901|1116/1197|372/398||,A|synonymous_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|5/5|c.1062G>A|p.Lys354Lys|1230/2808|1062/1143|354/380||,A|synonymous_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|3/3|c.753G>A|p.Lys251Lys|1014/1223|753/834|251/277||,A|synonymous_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|6/7|c.1116G>A|p.Lys372Lys|1214/1564|1116/1197|372/398||,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay||n.*534G>A|||||4279|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding||c.*566G>A|||||4277|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay||n.*478G>A|||||4253|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding||c.*624G>A|||||637|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding||c.*541G>A|||||4308|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding||c.*543G>A|||||388|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay||n.*504G>A|||||4319| 22 36662041 . AATAATT A . . ANN=|disruptive_inframe_deletion|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|7/7|c.1212_1217delTTATAA|p.Asn404_Tyr405del|1479/3000|1212/1245|404/414||INFO_REALIGN_3_PRIME,|disruptive_inframe_deletion|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|6/6|c.1164_1169delTTATAA|p.Asn388_Tyr389del|1393/2918|1164/1197|388/398||INFO_REALIGN_3_PRIME,|disruptive_inframe_deletion|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|6/6|c.1164_1169delTTATAA|p.Asn388_Tyr389del|1371/2901|1164/1197|388/398||INFO_REALIGN_3_PRIME,|disruptive_inframe_deletion|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|5/5|c.1110_1115delTTATAA|p.Asn370_Tyr371del|1278/2808|1110/1143|370/380||INFO_REALIGN_3_PRIME,|disruptive_inframe_deletion|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|3/3|c.801_806delTTATAA|p.Asn267_Tyr268del|1062/1223|801/834|267/277||INFO_REALIGN_3_PRIME,|disruptive_inframe_deletion|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|6/7|c.1164_1169delTTATAA|p.Asn388_Tyr389del|1262/1564|1164/1197|388/398||INFO_REALIGN_3_PRIME,|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay||n.*534_*534delATAATT|||||4323|,|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding||c.*566_*566delATAATT|||||4321|WARNING_TRANSCRIPT_NO_STOP_CODON,|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay||n.*478_*478delATAATT|||||4297|,|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding||c.*624_*624delATAATT|||||681|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding||c.*541_*541delATAATT|||||4352|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding||c.*543_*543delATAATT|||||432|,|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay||n.*504_*504delATAATT|||||4363| 22 36662063 . C A,G,T . . ANN=A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|7/7|c.1229C>A|p.Ala410Glu|1496/3000|1229/1245|410/414||,G|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|7/7|c.1229C>G|p.Ala410Gly|1496/3000|1229/1245|410/414||,T|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|7/7|c.1229C>T|p.Ala410Val|1496/3000|1229/1245|410/414||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|6/6|c.1181C>A|p.Ala394Glu|1410/2918|1181/1197|394/398||,G|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|6/6|c.1181C>G|p.Ala394Gly|1410/2918|1181/1197|394/398||,T|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|6/6|c.1181C>T|p.Ala394Val|1410/2918|1181/1197|394/398||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|6/6|c.1181C>A|p.Ala394Glu|1388/2901|1181/1197|394/398||,G|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|6/6|c.1181C>G|p.Ala394Gly|1388/2901|1181/1197|394/398||,T|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|6/6|c.1181C>T|p.Ala394Val|1388/2901|1181/1197|394/398||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|5/5|c.1127C>A|p.Ala376Glu|1295/2808|1127/1143|376/380||,G|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|5/5|c.1127C>G|p.Ala376Gly|1295/2808|1127/1143|376/380||,T|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|5/5|c.1127C>T|p.Ala376Val|1295/2808|1127/1143|376/380||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|3/3|c.818C>A|p.Ala273Glu|1079/1223|818/834|273/277||,G|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|3/3|c.818C>G|p.Ala273Gly|1079/1223|818/834|273/277||,T|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|3/3|c.818C>T|p.Ala273Val|1079/1223|818/834|273/277||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|6/7|c.1181C>A|p.Ala394Glu|1279/1564|1181/1197|394/398||,G|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|6/7|c.1181C>G|p.Ala394Gly|1279/1564|1181/1197|394/398||,T|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|6/7|c.1181C>T|p.Ala394Val|1279/1564|1181/1197|394/398||,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay||n.*534C>A|||||4344|,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay||n.*534C>G|||||4344|,T|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay||n.*534C>T|||||4344|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding||c.*566C>A|||||4342|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding||c.*566C>G|||||4342|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding||c.*566C>T|||||4342|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay||n.*478C>A|||||4318|,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay||n.*478C>G|||||4318|,T|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay||n.*478C>T|||||4318|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding||c.*624C>A|||||702|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding||c.*624C>G|||||702|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding||c.*624C>T|||||702|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding||c.*541C>A|||||4373|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding||c.*541C>G|||||4373|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding||c.*541C>T|||||4373|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding||c.*543C>A|||||453|,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding||c.*543C>G|||||453|,T|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding||c.*543C>T|||||453|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay||n.*504C>A|||||4384|,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay||n.*504C>G|||||4384|,T|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay||n.*504C>T|||||4384| 22 36662064 . G A . . ANN=A|synonymous_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|7/7|c.1230G>A|p.Ala410Ala|1497/3000|1230/1245|410/414||,A|synonymous_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|6/6|c.1182G>A|p.Ala394Ala|1411/2918|1182/1197|394/398||,A|synonymous_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|6/6|c.1182G>A|p.Ala394Ala|1389/2901|1182/1197|394/398||,A|synonymous_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|5/5|c.1128G>A|p.Ala376Ala|1296/2808|1128/1143|376/380||,A|synonymous_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|3/3|c.819G>A|p.Ala273Ala|1080/1223|819/834|273/277||,A|synonymous_variant|LOW|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|6/7|c.1182G>A|p.Ala394Ala|1280/1564|1182/1197|394/398||,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay||n.*534G>A|||||4345|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding||c.*566G>A|||||4343|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay||n.*478G>A|||||4319|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding||c.*624G>A|||||703|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding||c.*541G>A|||||4374|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding||c.*543G>A|||||454|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay||n.*504G>A|||||4385| 22 36662068 . C T . . ANN=T|stop_gained|HIGH|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|7/7|c.1234C>T|p.Gln412*|1501/3000|1234/1245|412/414||,T|stop_gained|HIGH|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|6/6|c.1186C>T|p.Gln396*|1415/2918|1186/1197|396/398||,T|stop_gained|HIGH|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|6/6|c.1186C>T|p.Gln396*|1393/2901|1186/1197|396/398||,T|stop_gained|HIGH|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|5/5|c.1132C>T|p.Gln378*|1300/2808|1132/1143|378/380||,T|stop_gained|HIGH|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|3/3|c.823C>T|p.Gln275*|1084/1223|823/834|275/277||,T|stop_gained|HIGH|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|6/7|c.1186C>T|p.Gln396*|1284/1564|1186/1197|396/398||,T|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay||n.*534C>T|||||4349|,T|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding||c.*566C>T|||||4347|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay||n.*478C>T|||||4323|,T|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding||c.*624C>T|||||707|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding||c.*541C>T|||||4378|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding||c.*543C>T|||||458|,T|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay||n.*504C>T|||||4389| 22 36678704 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|41/41|c.*10C>T|||||10|,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000475726|processed_transcript||n.*768C>T|||||1504|,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000486218|retained_intron||n.*788C>T|||||1556| 22 36678706 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|41/41|c.*8C>T|||||8|,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000475726|processed_transcript||n.*768C>T|||||1502|,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000486218|retained_intron||n.*788C>T|||||1554| 22 36678779 . C T . . ANN=T|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|41/41|c.5818G>A|p.Gly1940Arg|6049/7501|5818/5883|1940/1960||,T|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000475726|processed_transcript||n.*768G>A|||||1429|,T|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000486218|retained_intron||n.*788G>A|||||1481| 22 36678782 . C T . . ANN=T|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|41/41|c.5815G>A|p.Ala1939Thr|6046/7501|5815/5883|1939/1960||,T|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000475726|processed_transcript||n.*768G>A|||||1426|,T|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000486218|retained_intron||n.*788G>A|||||1478| 22 36678816 . C A . . ANN=A|synonymous_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|41/41|c.5781G>T|p.Pro1927Pro|6012/7501|5781/5883|1927/1960||,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000475726|processed_transcript||n.*768G>T|||||1392|,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000486218|retained_intron||n.*788G>T|||||1444| 22 36678833 . TG T . . ANN=|splice_region_variant&intron_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|40/40|c.5766-3delC||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.5766-3delC||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.5766-3delC||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.5766-3delC||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.5766-3delC||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.5766-3delC||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.5766-3delC||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.5766-3delC||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.5766-3delC||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.5766-3delC||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.5766-3delC||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.5766-3delC||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.5766-3delC||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.5766-3delC||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.5766-3delC||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.5766-3delC||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.5766-3delC||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.5766-3delC||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.5766-3delC||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.5766-3delC||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.5766-3delC||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.5766-3delC||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|beta_strand|ENST00000216181|protein_coding|41/41|c.5766-3delC||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|beta_strand|ENST00000216181|protein_coding|40/41|c.5766-3delC||||||,|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000475726|processed_transcript||n.*768delC|||||1374|,|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000486218|retained_intron||n.*788delC|||||1426| 22 36680124 . G A . . ANN=A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.5765+15C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.5765+15C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.5765+15C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.5765+15C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.5765+15C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.5765+15C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.5765+15C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.5765+15C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.5765+15C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.5765+15C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.5765+15C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.5765+15C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.5765+15C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.5765+15C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.5765+15C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.5765+15C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.5765+15C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.5765+15C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.5765+15C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.5765+15C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.5765+15C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|beta_strand|ENST00000216181|protein_coding|41/41|c.5765+15C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|beta_strand|ENST00000216181|protein_coding|40/41|c.5765+15C>T||||||,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000475726|processed_transcript||n.*768C>T|||||84|,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000486218|retained_intron||n.*788C>T|||||136|,A|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|40/40|c.5765+15C>T|||||| 22 36680130 . G A . . ANN=A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.5765+9C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.5765+9C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.5765+9C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.5765+9C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.5765+9C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.5765+9C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.5765+9C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.5765+9C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.5765+9C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.5765+9C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.5765+9C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.5765+9C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.5765+9C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.5765+9C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.5765+9C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.5765+9C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.5765+9C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.5765+9C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.5765+9C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.5765+9C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.5765+9C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|beta_strand|ENST00000216181|protein_coding|41/41|c.5765+9C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|beta_strand|ENST00000216181|protein_coding|40/41|c.5765+9C>T||||||,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000475726|processed_transcript||n.*768C>T|||||78|,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000486218|retained_intron||n.*788C>T|||||130|,A|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|40/40|c.5765+9C>T|||||| 22 36680162 . G A . . ANN=A|synonymous_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|40/41|c.5742C>T|p.Val1914Val|5973/7501|5742/5883|1914/1960||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.5742C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.5742C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.5742C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.5742C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.5742C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.5742C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.5742C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.5742C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.5742C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.5742C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.5742C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.5742C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.5742C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.5742C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.5742C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.5742C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.5742C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.5742C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.5742C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.5742C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.5742C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|helix|ENST00000216181|protein_coding|40/41|c.5742C>T||||||,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000475726|processed_transcript||n.*768C>T|||||46|,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000486218|retained_intron||n.*788C>T|||||98| 22 36680258 . G A . . ANN=A|synonymous_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|40/41|c.5646C>T|p.Ala1882Ala|5877/7501|5646/5883|1882/1960||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.5646C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.5646C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.5646C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.5646C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.5646C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.5646C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.5646C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.5646C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.5646C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.5646C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.5646C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.5646C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.5646C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.5646C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.5646C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.5646C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.5646C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.5646C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.5646C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.5646C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.5646C>T||||||,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000486218|retained_intron||n.*788C>T|||||2|,A|non_coding_exon_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000475726|processed_transcript|5/5|n.718C>T|||||| 22 36680325 . C A . . ANN=A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.5593-14G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.5593-14G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.5593-14G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.5593-14G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.5593-14G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.5593-14G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.5593-14G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.5593-14G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.5593-14G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.5593-14G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.5593-14G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.5593-14G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.5593-14G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.5593-14G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.5593-14G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.5593-14G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.5593-14G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.5593-14G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.5593-14G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.5593-14G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.5593-14G>T||||||,A|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|39/40|c.5593-14G>T||||||,A|non_coding_exon_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000475726|processed_transcript|5/5|n.651G>T||||||,A|non_coding_exon_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000486218|retained_intron|4/4|n.723G>T|||||| 22 36680340 . C G . . ANN=G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.5593-29G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.5593-29G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.5593-29G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.5593-29G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.5593-29G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.5593-29G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.5593-29G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.5593-29G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.5593-29G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.5593-29G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.5593-29G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.5593-29G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.5593-29G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.5593-29G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.5593-29G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.5593-29G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.5593-29G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.5593-29G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.5593-29G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.5593-29G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.5593-29G>C||||||,G|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|39/40|c.5593-29G>C||||||,G|non_coding_exon_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000475726|processed_transcript|5/5|n.636G>C||||||,G|non_coding_exon_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000486218|retained_intron|4/4|n.708G>C|||||| 22 36680358 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000475726|processed_transcript|4/4|n.623-5C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.5593-47C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.5593-47C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.5593-47C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.5593-47C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.5593-47C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.5593-47C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.5593-47C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.5593-47C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.5593-47C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.5593-47C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.5593-47C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.5593-47C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.5593-47C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.5593-47C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.5593-47C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.5593-47C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.5593-47C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.5593-47C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.5593-47C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.5593-47C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.5593-47C>T||||||,A|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|39/40|c.5593-47C>T||||||,A|non_coding_exon_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000486218|retained_intron|4/4|n.690C>T|||||| 22 36680470 . G A . . ANN=A|synonymous_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|39/41|c.5571C>T|p.Asn1857Asn|5802/7501|5571/5883|1857/1960||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.5571C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.5571C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.5571C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.5571C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.5571C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.5571C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.5571C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.5571C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.5571C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.5571C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.5571C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.5571C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.5571C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.5571C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.5571C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.5571C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.5571C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.5571C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.5571C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.5571C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.5571C>T||||||,A|non_coding_exon_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000475726|processed_transcript|4/5|n.601C>T||||||,A|non_coding_exon_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000486218|retained_intron|4/4|n.578C>T|||||| 22 36681145 . G A . . ANN=A|sequence_feature|MODERATE|MYH9|ENSG00000100345|amino_acid_modification:N6-acetyllysine|ENST00000216181|protein_coding|39/41|c.5483+22C>T||||||,A|sequence_feature|MODERATE|MYH9|ENSG00000100345|amino_acid_modification:N6-acetyllysine|ENST00000216181|protein_coding|38/41|c.5483+22C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.5483+22C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.5483+22C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.5483+22C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.5483+22C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.5483+22C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.5483+22C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.5483+22C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.5483+22C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.5483+22C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.5483+22C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.5483+22C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.5483+22C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.5483+22C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.5483+22C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.5483+22C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.5483+22C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.5483+22C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.5483+22C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.5483+22C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.5483+22C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.5483+22C>T||||||,A|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|38/40|c.5483+22C>T||||||,A|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000475726|processed_transcript|3/4|n.513+22C>T||||||,A|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000486218|retained_intron|3/3|n.490+22C>T|||||| 22 36681163 . G C . . ANN=C|sequence_feature|MODERATE|MYH9|ENSG00000100345|amino_acid_modification:N6-acetyllysine|ENST00000216181|protein_coding|39/41|c.5483+4C>G||||||,C|sequence_feature|MODERATE|MYH9|ENSG00000100345|amino_acid_modification:N6-acetyllysine|ENST00000216181|protein_coding|38/41|c.5483+4C>G||||||,C|splice_region_variant&intron_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|38/40|c.5483+4C>G||||||,C|splice_region_variant&intron_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000475726|processed_transcript|3/4|n.513+4C>G||||||,C|splice_region_variant&intron_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000486218|retained_intron|3/3|n.490+4C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.5483+4C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.5483+4C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.5483+4C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.5483+4C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.5483+4C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.5483+4C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.5483+4C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.5483+4C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.5483+4C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.5483+4C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.5483+4C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.5483+4C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.5483+4C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.5483+4C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.5483+4C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.5483+4C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.5483+4C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.5483+4C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.5483+4C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.5483+4C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.5483+4C>G|||||| 22 36681327 . T C . . ANN=C|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|38/41|c.5323A>G|p.Lys1775Glu|5554/7501|5323/5883|1775/1960||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.5323A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.5323A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.5323A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.5323A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.5323A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.5323A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.5323A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.5323A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.5323A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.5323A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.5323A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.5323A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.5323A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.5323A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.5323A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.5323A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.5323A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.5323A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.5323A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.5323A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.5323A>G||||||,C|non_coding_exon_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000475726|processed_transcript|3/5|n.353A>G||||||,C|non_coding_exon_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000486218|retained_intron|3/4|n.330A>G|||||| 22 36681373 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|38/41|c.5277C>T|p.Ile1759Ile|5508/7501|5277/5883|1759/1960||,A|splice_region_variant&non_coding_exon_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000475726|processed_transcript|3/5|n.307C>T||||||,A|splice_region_variant&non_coding_exon_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000486218|retained_intron|3/4|n.284C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.5277C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.5277C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.5277C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.5277C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.5277C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.5277C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.5277C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.5277C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.5277C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.5277C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.5277C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.5277C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.5277C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.5277C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.5277C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.5277C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.5277C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.5277C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.5277C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.5277C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.5277C>T|||||| 22 36681384 . GA G . . ANN=|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.5275-10delT||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.5275-10delT||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.5275-10delT||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.5275-10delT||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.5275-10delT||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.5275-10delT||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.5275-10delT||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.5275-10delT||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.5275-10delT||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.5275-10delT||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.5275-10delT||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.5275-10delT||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.5275-10delT||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.5275-10delT||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.5275-10delT||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.5275-10delT||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.5275-10delT||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.5275-10delT||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.5275-10delT||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.5275-10delT||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.5275-10delT||||||,|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|37/40|c.5275-10delT||||||,|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000475726|processed_transcript|2/4|n.305-10delT||||||,|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000486218|retained_intron|2/3|n.282-10delT|||||| 22 36681660 . T C . . ANN=C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.5274+44A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.5274+44A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.5274+44A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.5274+44A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.5274+44A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.5274+44A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.5274+44A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.5274+44A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.5274+44A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.5274+44A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.5274+44A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.5274+44A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.5274+44A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.5274+44A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.5274+44A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.5274+44A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.5274+44A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.5274+44A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.5274+44A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.5274+44A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.5274+44A>G||||||,C|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|37/40|c.5274+44A>G||||||,C|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000475726|processed_transcript|2/4|n.304+44A>G||||||,C|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000486218|retained_intron|2/3|n.281+44A>G|||||| 22 36681797 . C T . . ANN=T|synonymous_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|37/41|c.5181G>A|p.Leu1727Leu|5412/7501|5181/5883|1727/1960||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.5181G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.5181G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.5181G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.5181G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.5181G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.5181G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.5181G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.5181G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.5181G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.5181G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.5181G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.5181G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.5181G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.5181G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.5181G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.5181G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.5181G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.5181G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.5181G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.5181G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.5181G>A||||||,T|non_coding_exon_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000475726|processed_transcript|2/5|n.211G>A||||||,T|non_coding_exon_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000486218|retained_intron|2/4|n.188G>A|||||| 22 36681878 . T C . . ANN=C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.5150+33A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.5150+33A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.5150+33A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.5150+33A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.5150+33A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.5150+33A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.5150+33A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.5150+33A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.5150+33A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.5150+33A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.5150+33A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.5150+33A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.5150+33A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.5150+33A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.5150+33A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.5150+33A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.5150+33A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.5150+33A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.5150+33A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.5150+33A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.5150+33A>G||||||,C|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|36/40|c.5150+33A>G||||||,C|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000475726|processed_transcript|1/4|n.180+33A>G||||||,C|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000486218|retained_intron|1/3|n.157+33A>G|||||| 22 36681918 . C T . . ANN=T|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|36/41|c.5143G>A|p.Gly1715Ser|5374/7501|5143/5883|1715/1960||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.5143G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.5143G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.5143G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.5143G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.5143G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.5143G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.5143G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.5143G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.5143G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.5143G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.5143G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.5143G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.5143G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.5143G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.5143G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.5143G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.5143G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.5143G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.5143G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.5143G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.5143G>A||||||,T|non_coding_exon_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000475726|processed_transcript|1/5|n.173G>A||||||,T|non_coding_exon_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000486218|retained_intron|1/4|n.150G>A|||||| 22 36681988 . G A . . ANN=A|synonymous_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|36/41|c.5073C>T|p.Ala1691Ala|5304/7501|5073/5883|1691/1960||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.5073C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.5073C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.5073C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.5073C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.5073C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.5073C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.5073C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.5073C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.5073C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.5073C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.5073C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.5073C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.5073C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.5073C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.5073C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.5073C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.5073C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.5073C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.5073C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.5073C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.5073C>T||||||,A|non_coding_exon_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000475726|processed_transcript|1/5|n.103C>T||||||,A|non_coding_exon_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000486218|retained_intron|1/4|n.80C>T|||||| 22 36682724 . G A . . ANN=A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.5061+40C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.5061+40C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.5061+40C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.5061+40C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.5061+40C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.5061+40C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.5061+40C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.5061+40C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.5061+40C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.5061+40C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.5061+40C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.5061+40C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.5061+40C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.5061+40C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.5061+40C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.5061+40C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.5061+40C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.5061+40C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.5061+40C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.5061+40C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.5061+40C>T||||||,A|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000475726|processed_transcript||n.-1C>T|||||634|,A|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000486218|retained_intron||n.-1C>T|||||657|,A|TF_binding_site_variant|MODIFIER|||CTCF|MA0139.1|||||||||,A|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|35/40|c.5061+40C>T|||||| 22 36682734 . G A . . ANN=A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.5061+30C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.5061+30C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.5061+30C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.5061+30C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.5061+30C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.5061+30C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.5061+30C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.5061+30C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.5061+30C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.5061+30C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.5061+30C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.5061+30C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.5061+30C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.5061+30C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.5061+30C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.5061+30C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.5061+30C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.5061+30C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.5061+30C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.5061+30C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.5061+30C>T||||||,A|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000475726|processed_transcript||n.-1C>T|||||644|,A|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000486218|retained_intron||n.-1C>T|||||667|,A|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|35/40|c.5061+30C>T|||||| 22 36682776 . G T . . ANN=T|synonymous_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|35/41|c.5049C>A|p.Ile1683Ile|5280/7501|5049/5883|1683/1960||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.5049C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.5049C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.5049C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.5049C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.5049C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.5049C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.5049C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.5049C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.5049C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.5049C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.5049C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.5049C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.5049C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.5049C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.5049C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.5049C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.5049C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.5049C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.5049C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.5049C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.5049C>A||||||,T|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000475726|processed_transcript||n.-1C>A|||||686|,T|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000486218|retained_intron||n.-1C>A|||||709| 22 36682815 . C T . . ANN=T|synonymous_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|35/41|c.5010G>A|p.Glu1670Glu|5241/7501|5010/5883|1670/1960||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.5010G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.5010G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.5010G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.5010G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.5010G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.5010G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.5010G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.5010G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.5010G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.5010G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.5010G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.5010G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.5010G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.5010G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.5010G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.5010G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.5010G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.5010G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.5010G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.5010G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.5010G>A||||||,T|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000475726|processed_transcript||n.-1G>A|||||725|,T|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000486218|retained_intron||n.-1G>A|||||748| 22 36682873 . A G . . ANN=G|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|35/41|c.4952T>C|p.Met1651Thr|5183/7501|4952/5883|1651/1960||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.4952T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.4952T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.4952T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.4952T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.4952T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.4952T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.4952T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.4952T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.4952T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.4952T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.4952T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.4952T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.4952T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.4952T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.4952T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.4952T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.4952T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.4952T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.4952T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.4952T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.4952T>C||||||,G|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000475726|processed_transcript||n.-1T>C|||||783|,G|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000486218|retained_intron||n.-1T>C|||||806| 22 36684331 . C T . . ANN=T|synonymous_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|34/41|c.4899G>A|p.Arg1633Arg|5130/7501|4899/5883|1633/1960||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.4899G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.4899G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.4899G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.4899G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.4899G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.4899G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.4899G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.4899G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.4899G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.4899G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.4899G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.4899G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.4899G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.4899G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.4899G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.4899G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.4899G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.4899G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.4899G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.4899G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.4899G>A||||||,T|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000475726|processed_transcript||n.-1G>A|||||2241|,T|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000486218|retained_intron||n.-1G>A|||||2264| 22 36684354 . T C . . ANN=C|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|34/41|c.4876A>G|p.Ile1626Val|5107/7501|4876/5883|1626/1960||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.4876A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.4876A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.4876A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.4876A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.4876A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.4876A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.4876A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.4876A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.4876A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.4876A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.4876A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.4876A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.4876A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.4876A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.4876A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.4876A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.4876A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.4876A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.4876A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.4876A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.4876A>G||||||,C|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000475726|processed_transcript||n.-1A>G|||||2264|,C|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000486218|retained_intron||n.-1A>G|||||2287| 22 36684358 . C A . . ANN=A|synonymous_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|34/41|c.4872G>T|p.Ala1624Ala|5103/7501|4872/5883|1624/1960||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.4872G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.4872G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.4872G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.4872G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.4872G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.4872G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.4872G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.4872G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.4872G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.4872G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.4872G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.4872G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.4872G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.4872G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.4872G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.4872G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.4872G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.4872G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.4872G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.4872G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.4872G>T||||||,A|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000475726|processed_transcript||n.-1G>T|||||2268|,A|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000486218|retained_intron||n.-1G>T|||||2291| 22 36684412 . C T . . ANN=T|synonymous_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|34/41|c.4818G>A|p.Ser1606Ser|5049/7501|4818/5883|1606/1960||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.4818G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.4818G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.4818G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.4818G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.4818G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.4818G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.4818G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.4818G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.4818G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.4818G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.4818G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.4818G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.4818G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.4818G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.4818G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.4818G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.4818G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.4818G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.4818G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.4818G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.4818G>A||||||,T|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000475726|processed_transcript||n.-1G>A|||||2322|,T|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000486218|retained_intron||n.-1G>A|||||2345| 22 36684430 . G A . . ANN=A|synonymous_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|34/41|c.4800C>T|p.Asp1600Asp|5031/7501|4800/5883|1600/1960||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.4800C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.4800C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.4800C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.4800C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.4800C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.4800C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.4800C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.4800C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.4800C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.4800C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.4800C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.4800C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.4800C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.4800C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.4800C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.4800C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.4800C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.4800C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.4800C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.4800C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.4800C>T||||||,A|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000475726|processed_transcript||n.-1C>T|||||2340|,A|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000486218|retained_intron||n.-1C>T|||||2363| 22 36684817 . G A . . ANN=A|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|33/41|c.4726C>T|p.Arg1576Trp|4957/7501|4726/5883|1576/1960||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.4726C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.4726C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.4726C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.4726C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.4726C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.4726C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.4726C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.4726C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.4726C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.4726C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.4726C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.4726C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.4726C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.4726C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.4726C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.4726C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.4726C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.4726C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.4726C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.4726C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.4726C>T||||||,A|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000475726|processed_transcript||n.-1C>T|||||2727|,A|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000486218|retained_intron||n.-1C>T|||||2750| 22 36684961 . G T . . ANN=T|synonymous_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|33/41|c.4582C>A|p.Arg1528Arg|4813/7501|4582/5883|1528/1960||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.4582C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.4582C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.4582C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.4582C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.4582C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.4582C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.4582C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.4582C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.4582C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.4582C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.4582C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.4582C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.4582C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.4582C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.4582C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.4582C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.4582C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.4582C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.4582C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.4582C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.4582C>A||||||,T|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000475726|processed_transcript||n.-1C>A|||||2871|,T|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000486218|retained_intron||n.-1C>A|||||2894| 22 36684980 . G A . . ANN=A|synonymous_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|33/41|c.4563C>T|p.His1521His|4794/7501|4563/5883|1521/1960||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.4563C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.4563C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.4563C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.4563C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.4563C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.4563C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.4563C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.4563C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.4563C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.4563C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.4563C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.4563C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.4563C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.4563C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.4563C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.4563C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.4563C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.4563C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.4563C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.4563C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.4563C>T||||||,A|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000475726|processed_transcript||n.-1C>T|||||2890|,A|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000486218|retained_intron||n.-1C>T|||||2913| 22 36685018 . G C . . ANN=C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.4558-33C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.4558-33C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.4558-33C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.4558-33C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.4558-33C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.4558-33C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.4558-33C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.4558-33C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.4558-33C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.4558-33C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.4558-33C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.4558-33C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.4558-33C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.4558-33C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.4558-33C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.4558-33C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.4558-33C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.4558-33C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.4558-33C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.4558-33C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.4558-33C>G||||||,C|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000475726|processed_transcript||n.-1C>G|||||2928|,C|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000486218|retained_intron||n.-1C>G|||||2951|,C|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|32/40|c.4558-33C>G|||||| 22 36685177 . G A . . ANN=A|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|32/41|c.4511C>T|p.Thr1504Met|4742/7501|4511/5883|1504/1960||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.4511C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.4511C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.4511C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.4511C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.4511C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.4511C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.4511C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.4511C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.4511C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.4511C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.4511C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.4511C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.4511C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.4511C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.4511C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.4511C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.4511C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.4511C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.4511C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.4511C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.4511C>T||||||,A|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000475726|processed_transcript||n.-1C>T|||||3087|,A|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000486218|retained_intron||n.-1C>T|||||3110| 22 36685292 . G A . . ANN=A|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|32/41|c.4396C>T|p.Arg1466Trp|4627/7501|4396/5883|1466/1960||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.4396C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.4396C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.4396C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.4396C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.4396C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.4396C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.4396C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.4396C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.4396C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.4396C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.4396C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.4396C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.4396C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.4396C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.4396C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.4396C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.4396C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.4396C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.4396C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.4396C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.4396C>T||||||,A|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000475726|processed_transcript||n.-1C>T|||||3202|,A|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000486218|retained_intron||n.-1C>T|||||3225| 22 36685297 . C T . . ANN=T|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|32/41|c.4391G>A|p.Arg1464His|4622/7501|4391/5883|1464/1960||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.4391G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.4391G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.4391G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.4391G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.4391G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.4391G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.4391G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.4391G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.4391G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.4391G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.4391G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.4391G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.4391G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.4391G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.4391G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.4391G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.4391G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.4391G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.4391G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.4391G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.4391G>A||||||,T|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000475726|processed_transcript||n.-1G>A|||||3207|,T|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000486218|retained_intron||n.-1G>A|||||3230| 22 36685329 . C T . . ANN=T|synonymous_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|32/41|c.4359G>A|p.Glu1453Glu|4590/7501|4359/5883|1453/1960||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.4359G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.4359G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.4359G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.4359G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.4359G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.4359G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.4359G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.4359G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.4359G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.4359G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.4359G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.4359G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.4359G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.4359G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.4359G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.4359G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.4359G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.4359G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.4359G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.4359G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.4359G>A||||||,T|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000475726|processed_transcript||n.-1G>A|||||3239|,T|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000486218|retained_intron||n.-1G>A|||||3262| 22 36685365 . TGAG T . . ANN=|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.4345-25_4345-23delCTC||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.4345-25_4345-23delCTC||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.4345-25_4345-23delCTC||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.4345-25_4345-23delCTC||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.4345-25_4345-23delCTC||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.4345-25_4345-23delCTC||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.4345-25_4345-23delCTC||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.4345-25_4345-23delCTC||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.4345-25_4345-23delCTC||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.4345-25_4345-23delCTC||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.4345-25_4345-23delCTC||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.4345-25_4345-23delCTC||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.4345-25_4345-23delCTC||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.4345-25_4345-23delCTC||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.4345-25_4345-23delCTC||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.4345-25_4345-23delCTC||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.4345-25_4345-23delCTC||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.4345-25_4345-23delCTC||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.4345-25_4345-23delCTC||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.4345-25_4345-23delCTC||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.4345-25_4345-23delCTC||||||,|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000475726|processed_transcript||n.-1_-1delCTC|||||3276|,|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000486218|retained_intron||n.-1_-1delCTC|||||3299|,|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|31/40|c.4345-25_4345-23delCTC|||||| 22 36688022 . G A . . ANN=A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.4344+10C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.4344+10C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.4344+10C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.4344+10C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.4344+10C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.4344+10C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.4344+10C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.4344+10C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.4344+10C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.4344+10C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.4344+10C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.4344+10C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.4344+10C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.4344+10C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.4344+10C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.4344+10C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.4344+10C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.4344+10C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.4344+10C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.4344+10C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.4344+10C>T||||||,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron||n.*687C>T|||||3536|,A|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|31/40|c.4344+10C>T|||||| 22 36688157 . C T . . ANN=T|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|31/41|c.4219G>A|p.Ala1407Thr|4450/7501|4219/5883|1407/1960||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.4219G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.4219G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.4219G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.4219G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.4219G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.4219G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.4219G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.4219G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.4219G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.4219G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.4219G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.4219G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.4219G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.4219G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.4219G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.4219G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.4219G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.4219G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.4219G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.4219G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.4219G>A||||||,T|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron||n.*687G>A|||||3401| 22 36688178 . G A . . ANN=A|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|31/41|c.4198C>T|p.Arg1400Trp|4429/7501|4198/5883|1400/1960||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.4198C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.4198C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.4198C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.4198C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.4198C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.4198C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.4198C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.4198C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.4198C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.4198C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.4198C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.4198C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.4198C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.4198C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.4198C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.4198C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.4198C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.4198C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.4198C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.4198C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.4198C>T||||||,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron||n.*687C>T|||||3380| 22 36688226 . C G . . ANN=G|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|31/41|c.4150G>C|p.Glu1384Gln|4381/7501|4150/5883|1384/1960||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.4150G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.4150G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.4150G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.4150G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.4150G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.4150G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.4150G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.4150G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.4150G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.4150G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.4150G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.4150G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.4150G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.4150G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.4150G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.4150G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.4150G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.4150G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.4150G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.4150G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.4150G>C||||||,G|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron||n.*687G>C|||||3332| 22 36688248 . A G . . ANN=G|synonymous_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|31/41|c.4128T>C|p.Ser1376Ser|4359/7501|4128/5883|1376/1960||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.4128T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.4128T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.4128T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.4128T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.4128T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.4128T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.4128T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.4128T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.4128T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.4128T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.4128T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.4128T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.4128T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.4128T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.4128T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.4128T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.4128T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.4128T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.4128T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.4128T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.4128T>C||||||,G|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron||n.*687T>C|||||3310| 22 36688253 . C G . . ANN=G|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|31/41|c.4123G>C|p.Asp1375His|4354/7501|4123/5883|1375/1960||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.4123G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.4123G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.4123G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.4123G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.4123G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.4123G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.4123G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.4123G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.4123G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.4123G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.4123G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.4123G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.4123G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.4123G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.4123G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.4123G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.4123G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.4123G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.4123G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.4123G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.4123G>C||||||,G|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron||n.*687G>C|||||3305| 22 36688257 . C T . . ANN=T|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|31/41|c.4119G>A|p.Met1373Ile|4350/7501|4119/5883|1373/1960||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.4119G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.4119G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.4119G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.4119G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.4119G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.4119G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.4119G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.4119G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.4119G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.4119G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.4119G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.4119G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.4119G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.4119G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.4119G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.4119G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.4119G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.4119G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.4119G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.4119G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.4119G>A||||||,T|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron||n.*687G>A|||||3301| 22 36688296 . G T . . ANN=T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.4096-16C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.4096-16C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.4096-16C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.4096-16C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.4096-16C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.4096-16C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.4096-16C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.4096-16C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.4096-16C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.4096-16C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.4096-16C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.4096-16C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.4096-16C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.4096-16C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.4096-16C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.4096-16C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.4096-16C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.4096-16C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.4096-16C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.4096-16C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.4096-16C>A||||||,T|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron||n.*687C>A|||||3262|,T|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|30/40|c.4096-16C>A|||||| 22 36689832 . C T . . ANN=T|synonymous_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|29/41|c.3915G>A|p.Ala1305Ala|4146/7501|3915/5883|1305/1960||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.3915G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.3915G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.3915G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.3915G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.3915G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.3915G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.3915G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.3915G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.3915G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.3915G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.3915G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.3915G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.3915G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.3915G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.3915G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.3915G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.3915G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.3915G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.3915G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.3915G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.3915G>A||||||,T|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron||n.*687G>A|||||1726| 22 36689833 . G A . . ANN=A|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|29/41|c.3914C>T|p.Ala1305Val|4145/7501|3914/5883|1305/1960||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.3914C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.3914C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.3914C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.3914C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.3914C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.3914C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.3914C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.3914C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.3914C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.3914C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.3914C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.3914C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.3914C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.3914C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.3914C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.3914C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.3914C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.3914C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.3914C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.3914C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.3914C>T||||||,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron||n.*687C>T|||||1725| 22 36689895 . G A . . ANN=A|synonymous_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|29/41|c.3852C>T|p.Asn1284Asn|4083/7501|3852/5883|1284/1960||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.3852C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.3852C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.3852C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.3852C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.3852C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.3852C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.3852C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.3852C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.3852C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.3852C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.3852C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.3852C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.3852C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.3852C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.3852C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.3852C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.3852C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.3852C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.3852C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.3852C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.3852C>T||||||,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron||n.*687C>T|||||1663| 22 36689917 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|28/40|c.3838-8C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.3838-8C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.3838-8C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.3838-8C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.3838-8C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.3838-8C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.3838-8C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.3838-8C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.3838-8C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.3838-8C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.3838-8C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.3838-8C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.3838-8C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.3838-8C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.3838-8C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.3838-8C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.3838-8C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.3838-8C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.3838-8C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.3838-8C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.3838-8C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.3838-8C>T||||||,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron||n.*687C>T|||||1641| 22 36689921 . G A . . ANN=A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.3838-12C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.3838-12C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.3838-12C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.3838-12C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.3838-12C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.3838-12C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.3838-12C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.3838-12C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.3838-12C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.3838-12C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.3838-12C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.3838-12C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.3838-12C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.3838-12C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.3838-12C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.3838-12C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.3838-12C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.3838-12C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.3838-12C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.3838-12C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.3838-12C>T||||||,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron||n.*687C>T|||||1637|,A|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|28/40|c.3838-12C>T|||||| 22 36690101 . C T . . 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G A . . ANN=A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.3837+25C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.3837+25C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.3837+25C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.3837+25C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.3837+25C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.3837+25C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.3837+25C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.3837+25C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.3837+25C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.3837+25C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.3837+25C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.3837+25C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.3837+25C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.3837+25C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.3837+25C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.3837+25C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.3837+25C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.3837+25C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.3837+25C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.3837+25C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.3837+25C>T||||||,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron||n.*687C>T|||||1445|,A|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|28/40|c.3837+25C>T|||||| 22 36690120 . T C . . ANN=C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.3837+18A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.3837+18A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.3837+18A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.3837+18A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.3837+18A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.3837+18A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.3837+18A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.3837+18A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.3837+18A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.3837+18A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.3837+18A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.3837+18A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.3837+18A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.3837+18A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.3837+18A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.3837+18A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.3837+18A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.3837+18A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.3837+18A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.3837+18A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.3837+18A>G||||||,C|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron||n.*687A>G|||||1438|,C|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|28/40|c.3837+18A>G|||||| 22 36690189 . G T . . ANN=T|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|28/41|c.3786C>A|p.Asn1262Lys|4017/7501|3786/5883|1262/1960||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.3786C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.3786C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.3786C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.3786C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.3786C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.3786C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.3786C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.3786C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.3786C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.3786C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.3786C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.3786C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.3786C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.3786C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.3786C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.3786C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.3786C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.3786C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.3786C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.3786C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.3786C>A||||||,T|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron||n.*687C>A|||||1369| 22 36690282 . G A . . ANN=A|synonymous_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|28/41|c.3693C>T|p.Asn1231Asn|3924/7501|3693/5883|1231/1960||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.3693C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.3693C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.3693C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.3693C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.3693C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.3693C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.3693C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.3693C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.3693C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.3693C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.3693C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.3693C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.3693C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.3693C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.3693C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.3693C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.3693C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.3693C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.3693C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.3693C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.3693C>T||||||,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron||n.*687C>T|||||1276| 22 36691016 . C T . . ANN=T|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|27/41|c.3592G>A|p.Val1198Met|3823/7501|3592/5883|1198/1960||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.3592G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.3592G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.3592G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.3592G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.3592G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.3592G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.3592G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.3592G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.3592G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.3592G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.3592G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.3592G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.3592G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.3592G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.3592G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.3592G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.3592G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.3592G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.3592G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.3592G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.3592G>A||||||,T|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron||n.*687G>A|||||542| 22 36691054 . G C . . ANN=C|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|27/41|c.3554C>G|p.Ala1185Gly|3785/7501|3554/5883|1185/1960||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.3554C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.3554C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.3554C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.3554C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.3554C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.3554C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.3554C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.3554C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.3554C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.3554C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.3554C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.3554C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.3554C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.3554C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.3554C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.3554C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.3554C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.3554C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.3554C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.3554C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.3554C>G||||||,C|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron||n.*687C>G|||||504| 22 36691153 . C G . . ANN=G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.3486-31G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.3486-31G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.3486-31G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.3486-31G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.3486-31G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.3486-31G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.3486-31G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.3486-31G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.3486-31G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.3486-31G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.3486-31G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.3486-31G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.3486-31G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.3486-31G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.3486-31G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.3486-31G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.3486-31G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.3486-31G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.3486-31G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.3486-31G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.3486-31G>C||||||,G|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron||n.*687G>C|||||405|,G|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|26/40|c.3486-31G>C|||||| 22 36691502 . C A . . ANN=A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.3485+49G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.3485+49G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.3485+49G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.3485+49G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.3485+49G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.3485+49G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.3485+49G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.3485+49G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.3485+49G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.3485+49G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.3485+49G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.3485+49G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.3485+49G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.3485+49G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.3485+49G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.3485+49G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.3485+49G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.3485+49G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.3485+49G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.3485+49G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.3485+49G>T||||||,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron||n.*687G>T|||||56|,A|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|26/40|c.3485+49G>T|||||| 22 36691533 . C G . . ANN=G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.3485+18G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.3485+18G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.3485+18G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.3485+18G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.3485+18G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.3485+18G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.3485+18G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.3485+18G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.3485+18G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.3485+18G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.3485+18G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.3485+18G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.3485+18G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.3485+18G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.3485+18G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.3485+18G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.3485+18G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.3485+18G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.3485+18G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.3485+18G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.3485+18G>C||||||,G|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron||n.*687G>C|||||25|,G|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|26/40|c.3485+18G>C|||||| 22 36691607 . A C . . ANN=C|synonymous_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|26/41|c.3429T>G|p.Ala1143Ala|3660/7501|3429/5883|1143/1960||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.3429T>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.3429T>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.3429T>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.3429T>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.3429T>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.3429T>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.3429T>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.3429T>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.3429T>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.3429T>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.3429T>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.3429T>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.3429T>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.3429T>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.3429T>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.3429T>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.3429T>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.3429T>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.3429T>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.3429T>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.3429T>G||||||,C|non_coding_exon_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron|2/2|n.638T>G|||||| 22 36691691 . T C . . ANN=C|synonymous_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|26/41|c.3345A>G|p.Glu1115Glu|3576/7501|3345/5883|1115/1960||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.3345A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.3345A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.3345A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.3345A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.3345A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.3345A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.3345A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.3345A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.3345A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.3345A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.3345A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.3345A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.3345A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.3345A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.3345A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.3345A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.3345A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.3345A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.3345A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.3345A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.3345A>G||||||,C|non_coding_exon_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron|2/2|n.554A>G|||||| 22 36692854 . C G . . ANN=G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.3272+35G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.3272+35G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.3272+35G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.3272+35G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.3272+35G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.3272+35G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.3272+35G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.3272+35G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.3272+35G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.3272+35G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.3272+35G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.3272+35G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.3272+35G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.3272+35G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.3272+35G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.3272+35G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.3272+35G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.3272+35G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.3272+35G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.3272+35G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.3272+35G>C||||||,G|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000495928|processed_transcript||n.*329G>C|||||4102|,G|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|25/40|c.3272+35G>C||||||,G|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron|1/1|n.481+35G>C|||||| 22 36692915 . C T . . ANN=T|synonymous_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|25/41|c.3246G>A|p.Glu1082Glu|3477/7501|3246/5883|1082/1960||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.3246G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.3246G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.3246G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.3246G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.3246G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.3246G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.3246G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.3246G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.3246G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.3246G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.3246G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.3246G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.3246G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.3246G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.3246G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.3246G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.3246G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.3246G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.3246G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.3246G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.3246G>A||||||,T|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000495928|processed_transcript||n.*329G>A|||||4041|,T|non_coding_exon_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron|1/2|n.455G>A|||||| 22 36692980 . T A . . ANN=A|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|25/41|c.3181A>T|p.Ser1061Cys|3412/7501|3181/5883|1061/1960||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.3181A>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.3181A>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.3181A>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.3181A>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.3181A>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.3181A>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.3181A>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.3181A>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.3181A>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.3181A>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.3181A>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.3181A>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.3181A>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.3181A>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.3181A>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.3181A>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.3181A>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.3181A>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.3181A>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.3181A>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.3181A>T||||||,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000495928|processed_transcript||n.*329A>T|||||3976|,A|non_coding_exon_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron|1/2|n.390A>T|||||| 22 36693002 . C A . . ANN=A|synonymous_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|25/41|c.3159G>T|p.Leu1053Leu|3390/7501|3159/5883|1053/1960||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.3159G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.3159G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.3159G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.3159G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.3159G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.3159G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.3159G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.3159G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.3159G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.3159G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.3159G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.3159G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.3159G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.3159G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.3159G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.3159G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.3159G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.3159G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.3159G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.3159G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.3159G>T||||||,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000495928|processed_transcript||n.*329G>T|||||3954|,A|non_coding_exon_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron|1/2|n.368G>T|||||| 22 36693082 . C G . . ANN=G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.3101-22G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.3101-22G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.3101-22G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.3101-22G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.3101-22G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.3101-22G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.3101-22G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.3101-22G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.3101-22G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.3101-22G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.3101-22G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.3101-22G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.3101-22G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.3101-22G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.3101-22G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.3101-22G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.3101-22G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.3101-22G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.3101-22G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.3101-22G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.3101-22G>C||||||,G|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000495928|processed_transcript||n.*329G>C|||||3874|,G|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|24/40|c.3101-22G>C||||||,G|non_coding_exon_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron|1/2|n.288G>C|||||| 22 36694924 . G A . . ANN=A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.3100+41C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.3100+41C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.3100+41C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.3100+41C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.3100+41C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.3100+41C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.3100+41C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.3100+41C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.3100+41C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.3100+41C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.3100+41C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.3100+41C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.3100+41C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.3100+41C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.3100+41C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.3100+41C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.3100+41C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.3100+41C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.3100+41C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.3100+41C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.3100+41C>T||||||,A|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron||n.-1C>T|||||1555|,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000495928|processed_transcript||n.*329C>T|||||2032|,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000473022|retained_intron||n.*400C>T|||||3430|,A|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|24/40|c.3100+41C>T|||||| 22 36694929 . C T . . ANN=T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.3100+36G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.3100+36G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.3100+36G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.3100+36G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.3100+36G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.3100+36G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.3100+36G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.3100+36G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.3100+36G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.3100+36G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.3100+36G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.3100+36G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.3100+36G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.3100+36G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.3100+36G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.3100+36G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.3100+36G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.3100+36G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.3100+36G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.3100+36G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.3100+36G>A||||||,T|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron||n.-1G>A|||||1560|,T|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000495928|processed_transcript||n.*329G>A|||||2027|,T|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000473022|retained_intron||n.*400G>A|||||3425|,T|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|24/40|c.3100+36G>A|||||| 22 36694954 . C G . . ANN=G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.3100+11G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.3100+11G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.3100+11G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.3100+11G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.3100+11G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.3100+11G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.3100+11G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.3100+11G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.3100+11G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.3100+11G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.3100+11G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.3100+11G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.3100+11G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.3100+11G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.3100+11G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.3100+11G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.3100+11G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.3100+11G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.3100+11G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.3100+11G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.3100+11G>C||||||,G|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron||n.-1G>C|||||1585|,G|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000495928|processed_transcript||n.*329G>C|||||2002|,G|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000473022|retained_intron||n.*400G>C|||||3400|,G|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|24/40|c.3100+11G>C|||||| 22 36694958 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|24/40|c.3100+7G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.3100+7G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.3100+7G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.3100+7G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.3100+7G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.3100+7G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.3100+7G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.3100+7G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.3100+7G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.3100+7G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.3100+7G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.3100+7G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.3100+7G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.3100+7G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.3100+7G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.3100+7G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.3100+7G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.3100+7G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.3100+7G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.3100+7G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.3100+7G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.3100+7G>A||||||,T|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron||n.-1G>A|||||1589|,T|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000495928|processed_transcript||n.*329G>A|||||1998|,T|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000473022|retained_intron||n.*400G>A|||||3396| 22 36695098 . G A . . ANN=A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.2977-10C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.2977-10C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.2977-10C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.2977-10C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.2977-10C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.2977-10C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.2977-10C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.2977-10C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.2977-10C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.2977-10C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.2977-10C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.2977-10C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.2977-10C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.2977-10C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.2977-10C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.2977-10C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.2977-10C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.2977-10C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.2977-10C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.2977-10C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.2977-10C>T||||||,A|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron||n.-1C>T|||||1729|,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000495928|processed_transcript||n.*329C>T|||||1858|,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000473022|retained_intron||n.*400C>T|||||3256|,A|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|23/40|c.2977-10C>T|||||| 22 36695123 . G C . . ANN=C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.2977-35C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.2977-35C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.2977-35C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.2977-35C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.2977-35C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.2977-35C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.2977-35C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.2977-35C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.2977-35C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.2977-35C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.2977-35C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.2977-35C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.2977-35C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.2977-35C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.2977-35C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.2977-35C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.2977-35C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.2977-35C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.2977-35C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.2977-35C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.2977-35C>G||||||,C|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron||n.-1C>G|||||1754|,C|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000495928|processed_transcript||n.*329C>G|||||1833|,C|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000473022|retained_intron||n.*400C>G|||||3231|,C|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|23/40|c.2977-35C>G|||||| 22 36696148 . G A . . ANN=A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.2976+25C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.2976+25C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.2976+25C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.2976+25C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.2976+25C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.2976+25C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.2976+25C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.2976+25C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.2976+25C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.2976+25C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.2976+25C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.2976+25C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.2976+25C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.2976+25C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.2976+25C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.2976+25C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.2976+25C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.2976+25C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.2976+25C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.2976+25C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.2976+25C>T||||||,A|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron||n.-1C>T|||||2779|,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000495928|processed_transcript||n.*329C>T|||||808|,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000473022|retained_intron||n.*400C>T|||||2206|,A|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|23/40|c.2976+25C>T|||||| 22 36696236 . C T . . ANN=T|synonymous_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|23/41|c.2913G>A|p.Ala971Ala|3144/7501|2913/5883|971/1960||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.2913G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.2913G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.2913G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.2913G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.2913G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.2913G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.2913G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.2913G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.2913G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.2913G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.2913G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.2913G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.2913G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.2913G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.2913G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.2913G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.2913G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.2913G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.2913G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.2913G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.2913G>A||||||,T|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron||n.-1G>A|||||2867|,T|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000495928|processed_transcript||n.*329G>A|||||720|,T|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000473022|retained_intron||n.*400G>A|||||2118| 22 36696330 . C T . . ANN=T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.2839-20G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.2839-20G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.2839-20G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.2839-20G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.2839-20G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.2839-20G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.2839-20G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.2839-20G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.2839-20G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.2839-20G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.2839-20G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.2839-20G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.2839-20G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.2839-20G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.2839-20G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.2839-20G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.2839-20G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.2839-20G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.2839-20G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.2839-20G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.2839-20G>A||||||,T|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron||n.-1G>A|||||2961|,T|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000495928|processed_transcript||n.*329G>A|||||626|,T|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000473022|retained_intron||n.*400G>A|||||2024|,T|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|22/40|c.2839-20G>A|||||| 22 36696353 . G T . . ANN=T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.2839-43C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.2839-43C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.2839-43C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.2839-43C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.2839-43C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.2839-43C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.2839-43C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.2839-43C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.2839-43C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.2839-43C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.2839-43C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.2839-43C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.2839-43C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.2839-43C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.2839-43C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.2839-43C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.2839-43C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.2839-43C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.2839-43C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.2839-43C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.2839-43C>A||||||,T|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron||n.-1C>A|||||2984|,T|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000495928|processed_transcript||n.*329C>A|||||603|,T|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000473022|retained_intron||n.*400C>A|||||2001|,T|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|22/40|c.2839-43C>A|||||| 22 36696354 . C T . . ANN=T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.2839-44G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.2839-44G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.2839-44G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.2839-44G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.2839-44G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.2839-44G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.2839-44G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.2839-44G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.2839-44G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.2839-44G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.2839-44G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.2839-44G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.2839-44G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.2839-44G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.2839-44G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.2839-44G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.2839-44G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.2839-44G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.2839-44G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.2839-44G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.2839-44G>A||||||,T|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron||n.-1G>A|||||2985|,T|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000495928|processed_transcript||n.*329G>A|||||602|,T|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000473022|retained_intron||n.*400G>A|||||2000|,T|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|22/40|c.2839-44G>A|||||| 22 36696862 . G A . . ANN=A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.2838+35C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.2838+35C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.2838+35C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.2838+35C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.2838+35C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.2838+35C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.2838+35C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.2838+35C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.2838+35C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.2838+35C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.2838+35C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.2838+35C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.2838+35C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.2838+35C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.2838+35C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.2838+35C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.2838+35C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.2838+35C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.2838+35C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.2838+35C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.2838+35C>T||||||,A|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron||n.-1C>T|||||3493|,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000495928|processed_transcript||n.*329C>T|||||94|,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000473022|retained_intron||n.*400C>T|||||1492|,A|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|22/40|c.2838+35C>T|||||| 22 36696927 . C T . . ANN=T|synonymous_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|22/41|c.2808G>A|p.Ala936Ala|3039/7501|2808/5883|936/1960||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.2808G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.2808G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.2808G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.2808G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.2808G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.2808G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.2808G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.2808G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.2808G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.2808G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.2808G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.2808G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.2808G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.2808G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.2808G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.2808G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.2808G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.2808G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.2808G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.2808G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.2808G>A||||||,T|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron||n.-1G>A|||||3558|,T|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000495928|processed_transcript||n.*329G>A|||||29|,T|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000473022|retained_intron||n.*400G>A|||||1427| 22 36697014 . G A . . ANN=A|synonymous_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|22/41|c.2721C>T|p.Thr907Thr|2952/7501|2721/5883|907/1960||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.2721C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.2721C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.2721C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.2721C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.2721C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.2721C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.2721C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.2721C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.2721C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.2721C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.2721C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.2721C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.2721C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.2721C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.2721C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.2721C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.2721C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.2721C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.2721C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.2721C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.2721C>T||||||,A|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron||n.-1C>T|||||3645|,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000473022|retained_intron||n.*400C>T|||||1340|,A|non_coding_exon_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000495928|processed_transcript|2/2|n.271C>T|||||| 22 36697077 . C T . . ANN=T|synonymous_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|22/41|c.2658G>A|p.Gln886Gln|2889/7501|2658/5883|886/1960||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.2658G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.2658G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.2658G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.2658G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.2658G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.2658G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.2658G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.2658G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.2658G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.2658G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.2658G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.2658G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.2658G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.2658G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.2658G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.2658G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.2658G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.2658G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.2658G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.2658G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.2658G>A||||||,T|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron||n.-1G>A|||||3708|,T|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000473022|retained_intron||n.*400G>A|||||1277|,T|non_coding_exon_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000495928|processed_transcript|2/2|n.208G>A|||||| 22 36697100 . T G . . ANN=G|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|22/41|c.2635A>C|p.Met879Leu|2866/7501|2635/5883|879/1960||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.2635A>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.2635A>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.2635A>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.2635A>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.2635A>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.2635A>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.2635A>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.2635A>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.2635A>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.2635A>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.2635A>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.2635A>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.2635A>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.2635A>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.2635A>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.2635A>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.2635A>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.2635A>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.2635A>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.2635A>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.2635A>C||||||,G|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron||n.-1A>C|||||3731|,G|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000473022|retained_intron||n.*400A>C|||||1254|,G|non_coding_exon_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000495928|processed_transcript|2/2|n.185A>C|||||| 22 36697537 . A G . . ANN=G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.2631+43T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.2631+43T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.2631+43T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.2631+43T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.2631+43T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.2631+43T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.2631+43T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.2631+43T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.2631+43T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.2631+43T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.2631+43T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.2631+43T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.2631+43T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.2631+43T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.2631+43T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.2631+43T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.2631+43T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.2631+43T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.2631+43T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.2631+43T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.2631+43T>C||||||,G|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron||n.-1T>C|||||4168|,G|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000473022|retained_intron||n.*400T>C|||||817|,G|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|21/40|c.2631+43T>C||||||,G|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000495928|processed_transcript|1/1|n.181+43T>C|||||| 22 36697620 . G A . . ANN=A|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|21/41|c.2591C>T|p.Ala864Val|2822/7501|2591/5883|864/1960||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.2591C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.2591C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.2591C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.2591C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.2591C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.2591C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.2591C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.2591C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.2591C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.2591C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.2591C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.2591C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.2591C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.2591C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.2591C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.2591C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.2591C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.2591C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.2591C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.2591C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.2591C>T||||||,A|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron||n.-1C>T|||||4251|,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000473022|retained_intron||n.*400C>T|||||734|,A|non_coding_exon_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000495928|processed_transcript|1/2|n.141C>T|||||| 22 36697731 . T A . . ANN=A|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron||n.-1A>T|||||4362|,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000473022|retained_intron||n.*400A>T|||||623|,A|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|20/40|c.2500-20A>T||||||,A|non_coding_exon_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000495928|processed_transcript|1/2|n.30A>T|||||| 22 36697758 . C T . . ANN=T|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron||n.-1G>A|||||4389|,T|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000473022|retained_intron||n.*400G>A|||||596|,T|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|20/40|c.2500-47G>A||||||,T|non_coding_exon_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000495928|processed_transcript|1/2|n.3G>A|||||| 22 36700087 . C T . . ANN=T|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|19/41|c.2344G>A|p.Val782Ile|2575/7501|2344/5883|782/1960||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:IQ|ENST00000216181|protein_coding|20/41|c.2344G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:IQ|ENST00000216181|protein_coding|19/41|c.2344G>A||||||,T|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000495928|processed_transcript||n.-1G>A|||||2327|,T|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000473022|retained_intron||n.-1G>A|||||16| 22 36700136 . G A . . ANN=A|synonymous_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|19/41|c.2295C>T|p.Ala765Ala|2526/7501|2295/5883|765/1960||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|13/41|c.2295C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|5/41|c.2295C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|9/41|c.2295C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|6/41|c.2295C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|18/41|c.2295C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|11/41|c.2295C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|3/41|c.2295C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|16/41|c.2295C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|8/41|c.2295C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|4/41|c.2295C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|17/41|c.2295C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|14/41|c.2295C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|7/41|c.2295C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|10/41|c.2295C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|12/41|c.2295C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|2/41|c.2295C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|15/41|c.2295C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|19/41|c.2295C>T||||||,A|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000495928|processed_transcript||n.-1C>T|||||2376|,A|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000473022|retained_intron||n.-1C>T|||||65| 22 36700175 . A G . . ANN=G|synonymous_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|19/41|c.2256T>C|p.Asn752Asn|2487/7501|2256/5883|752/1960||,G|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|13/41|c.2256T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|5/41|c.2256T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|9/41|c.2256T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|6/41|c.2256T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|18/41|c.2256T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|11/41|c.2256T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|3/41|c.2256T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|16/41|c.2256T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|8/41|c.2256T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|4/41|c.2256T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|17/41|c.2256T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|14/41|c.2256T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|7/41|c.2256T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|10/41|c.2256T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|12/41|c.2256T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|2/41|c.2256T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|15/41|c.2256T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|19/41|c.2256T>C||||||,G|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000495928|processed_transcript||n.-1T>C|||||2415|,G|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000473022|retained_intron||n.-1T>C|||||104| 22 36701066 . C A . . ANN=A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|13/41|c.2229+13G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|5/41|c.2229+13G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|9/41|c.2229+13G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|6/41|c.2229+13G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|18/41|c.2229+13G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|11/41|c.2229+13G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|3/41|c.2229+13G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|16/41|c.2229+13G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|8/41|c.2229+13G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|4/41|c.2229+13G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|17/41|c.2229+13G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|14/41|c.2229+13G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|7/41|c.2229+13G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|10/41|c.2229+13G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|12/41|c.2229+13G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|2/41|c.2229+13G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|15/41|c.2229+13G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|19/41|c.2229+13G>T||||||,A|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000495928|processed_transcript||n.-1G>T|||||3306|,A|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000473022|retained_intron||n.-1G>T|||||995|,A|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|18/40|c.2229+13G>T|||||| 22 36701185 . T A . . ANN=A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|13/41|c.2160-37A>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|5/41|c.2160-37A>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|9/41|c.2160-37A>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|6/41|c.2160-37A>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|18/41|c.2160-37A>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|11/41|c.2160-37A>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|3/41|c.2160-37A>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|16/41|c.2160-37A>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|8/41|c.2160-37A>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|4/41|c.2160-37A>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|17/41|c.2160-37A>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|14/41|c.2160-37A>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|7/41|c.2160-37A>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|10/41|c.2160-37A>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|12/41|c.2160-37A>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|2/41|c.2160-37A>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|15/41|c.2160-37A>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|19/41|c.2160-37A>T||||||,A|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000495928|processed_transcript||n.-1A>T|||||3425|,A|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000473022|retained_intron||n.-1A>T|||||1114|,A|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|17/40|c.2160-37A>T|||||| 22 36701937 . G T . . ANN=T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|13/41|c.2159+39C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|5/41|c.2159+39C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|9/41|c.2159+39C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|6/41|c.2159+39C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|18/41|c.2159+39C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|11/41|c.2159+39C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|3/41|c.2159+39C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|16/41|c.2159+39C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|8/41|c.2159+39C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|4/41|c.2159+39C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|17/41|c.2159+39C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|14/41|c.2159+39C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|7/41|c.2159+39C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|10/41|c.2159+39C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|12/41|c.2159+39C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|2/41|c.2159+39C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|15/41|c.2159+39C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|19/41|c.2159+39C>A||||||,T|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000495928|processed_transcript||n.-1C>A|||||4177|,T|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000473022|retained_intron||n.-1C>A|||||1866|,T|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|17/40|c.2159+39C>A|||||| 22 36702032 . G C . . ANN=C|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|17/41|c.2103C>G|p.Ile701Met|2334/7501|2103/5883|701/1960||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|13/41|c.2103C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|5/41|c.2103C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|9/41|c.2103C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|6/41|c.2103C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|18/41|c.2103C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|11/41|c.2103C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|3/41|c.2103C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|16/41|c.2103C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|8/41|c.2103C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|4/41|c.2103C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|17/41|c.2103C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|14/41|c.2103C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|7/41|c.2103C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|10/41|c.2103C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|12/41|c.2103C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|2/41|c.2103C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|15/41|c.2103C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|19/41|c.2103C>G||||||,C|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000495928|processed_transcript||n.-1C>G|||||4272|,C|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000473022|retained_intron||n.-1C>G|||||1961| 22 36702074 . G A . . ANN=A|synonymous_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|17/41|c.2061C>T|p.Leu687Leu|2292/7501|2061/5883|687/1960||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|13/41|c.2061C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|5/41|c.2061C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|9/41|c.2061C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|6/41|c.2061C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|18/41|c.2061C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|11/41|c.2061C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|3/41|c.2061C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|16/41|c.2061C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|8/41|c.2061C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|4/41|c.2061C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|17/41|c.2061C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|14/41|c.2061C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|7/41|c.2061C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|10/41|c.2061C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|12/41|c.2061C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|2/41|c.2061C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|15/41|c.2061C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|19/41|c.2061C>T||||||,A|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000495928|processed_transcript||n.-1C>T|||||4314|,A|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000473022|retained_intron||n.-1C>T|||||2003| 22 36702102 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|16/40|c.2038-5T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|13/41|c.2038-5T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|5/41|c.2038-5T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|9/41|c.2038-5T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|6/41|c.2038-5T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|18/41|c.2038-5T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|11/41|c.2038-5T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|3/41|c.2038-5T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|16/41|c.2038-5T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|8/41|c.2038-5T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|4/41|c.2038-5T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|17/41|c.2038-5T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|14/41|c.2038-5T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|7/41|c.2038-5T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|10/41|c.2038-5T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|12/41|c.2038-5T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|2/41|c.2038-5T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|15/41|c.2038-5T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|19/41|c.2038-5T>C||||||,G|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000495928|processed_transcript||n.-1T>C|||||4342|,G|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000473022|retained_intron||n.-1T>C|||||2031| 22 36702134 . G A . . ANN=A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|13/41|c.2038-37C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|5/41|c.2038-37C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|9/41|c.2038-37C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|6/41|c.2038-37C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|18/41|c.2038-37C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|11/41|c.2038-37C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|3/41|c.2038-37C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|16/41|c.2038-37C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|8/41|c.2038-37C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|4/41|c.2038-37C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|17/41|c.2038-37C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|14/41|c.2038-37C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|7/41|c.2038-37C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|10/41|c.2038-37C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|12/41|c.2038-37C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|2/41|c.2038-37C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|15/41|c.2038-37C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|19/41|c.2038-37C>T||||||,A|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000495928|processed_transcript||n.-1C>T|||||4374|,A|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000473022|retained_intron||n.-1C>T|||||2063|,A|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|16/40|c.2038-37C>T|||||| 22 36702456 . G GCAC . . ANN=CAC|splice_region_variant&intron_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|16/40|c.2037+1_2037+3dupGTG||||||,CAC|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|13/41|c.2037+1_2037+3dupGTG||||||,CAC|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|5/41|c.2037+1_2037+3dupGTG||||||,CAC|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|9/41|c.2037+1_2037+3dupGTG||||||,CAC|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|6/41|c.2037+1_2037+3dupGTG||||||,CAC|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|18/41|c.2037+1_2037+3dupGTG||||||,CAC|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|11/41|c.2037+1_2037+3dupGTG||||||,CAC|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|3/41|c.2037+1_2037+3dupGTG||||||,CAC|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|16/41|c.2037+1_2037+3dupGTG||||||,CAC|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|8/41|c.2037+1_2037+3dupGTG||||||,CAC|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|4/41|c.2037+1_2037+3dupGTG||||||,CAC|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|17/41|c.2037+1_2037+3dupGTG||||||,CAC|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|14/41|c.2037+1_2037+3dupGTG||||||,CAC|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|7/41|c.2037+1_2037+3dupGTG||||||,CAC|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|10/41|c.2037+1_2037+3dupGTG||||||,CAC|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|12/41|c.2037+1_2037+3dupGTG||||||,CAC|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|2/41|c.2037+1_2037+3dupGTG||||||,CAC|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|15/41|c.2037+1_2037+3dupGTG||||||,CAC|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|19/41|c.2037+1_2037+3dupGTG||||||,CAC|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000495928|processed_transcript||n.-1_-1dupGTG|||||4697|,CAC|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000473022|retained_intron||n.-1_-1dupGTG|||||2386| 22 36702505 . C T . . ANN=T|synonymous_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|16/41|c.1992G>A|p.Thr664Thr|2223/7501|1992/5883|664/1960||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|13/41|c.1992G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|5/41|c.1992G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|9/41|c.1992G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|6/41|c.1992G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|18/41|c.1992G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|11/41|c.1992G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|3/41|c.1992G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|16/41|c.1992G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|8/41|c.1992G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|4/41|c.1992G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|17/41|c.1992G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|14/41|c.1992G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|7/41|c.1992G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|10/41|c.1992G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|12/41|c.1992G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|2/41|c.1992G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|15/41|c.1992G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|19/41|c.1992G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|region_of_interest:Actin-binding|ENST00000216181|protein_coding|16/41|c.1992G>A||||||,T|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000495928|processed_transcript||n.-1G>A|||||4745|,T|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000473022|retained_intron||n.-1G>A|||||2434| 22 36702517 . C T . . ANN=T|synonymous_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|16/41|c.1980G>A|p.Thr660Thr|2211/7501|1980/5883|660/1960||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|13/41|c.1980G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|5/41|c.1980G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|9/41|c.1980G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|6/41|c.1980G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|18/41|c.1980G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|11/41|c.1980G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|3/41|c.1980G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|16/41|c.1980G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|8/41|c.1980G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|4/41|c.1980G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|17/41|c.1980G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|14/41|c.1980G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|7/41|c.1980G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|10/41|c.1980G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|12/41|c.1980G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|2/41|c.1980G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|15/41|c.1980G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|19/41|c.1980G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|region_of_interest:Actin-binding|ENST00000216181|protein_coding|16/41|c.1980G>A||||||,T|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000495928|processed_transcript||n.-1G>A|||||4757|,T|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000473022|retained_intron||n.-1G>A|||||2446| 22 36702640 . G A . . ANN=A|synonymous_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|16/41|c.1857C>T|p.Ile619Ile|2088/7501|1857/5883|619/1960||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|13/41|c.1857C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|5/41|c.1857C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|9/41|c.1857C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|6/41|c.1857C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|18/41|c.1857C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|11/41|c.1857C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|3/41|c.1857C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|16/41|c.1857C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|8/41|c.1857C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|4/41|c.1857C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|17/41|c.1857C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|14/41|c.1857C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|7/41|c.1857C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|10/41|c.1857C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|12/41|c.1857C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|2/41|c.1857C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|15/41|c.1857C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|19/41|c.1857C>T||||||,A|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000495928|processed_transcript||n.-1C>T|||||4880|,A|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000473022|retained_intron||n.-1C>T|||||2569| 22 36705447 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|14/40|c.1729-6C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|13/41|c.1729-6C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|5/41|c.1729-6C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|9/41|c.1729-6C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|6/41|c.1729-6C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|18/41|c.1729-6C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|11/41|c.1729-6C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|3/41|c.1729-6C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|16/41|c.1729-6C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|8/41|c.1729-6C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|4/41|c.1729-6C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|17/41|c.1729-6C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|14/41|c.1729-6C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|7/41|c.1729-6C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|10/41|c.1729-6C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|12/41|c.1729-6C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|2/41|c.1729-6C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|15/41|c.1729-6C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|19/41|c.1729-6C>T|||||| 22 36705462 . G A . . ANN=A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|13/41|c.1729-21C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|5/41|c.1729-21C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|9/41|c.1729-21C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|6/41|c.1729-21C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|18/41|c.1729-21C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|11/41|c.1729-21C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|3/41|c.1729-21C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|16/41|c.1729-21C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|8/41|c.1729-21C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|4/41|c.1729-21C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|17/41|c.1729-21C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|14/41|c.1729-21C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|7/41|c.1729-21C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|10/41|c.1729-21C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|12/41|c.1729-21C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|2/41|c.1729-21C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|15/41|c.1729-21C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|19/41|c.1729-21C>T||||||,A|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|14/40|c.1729-21C>T|||||| 22 36708049 . CTCCTGTGA C . . ANN=|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|13/41|c.1728+37_1728+44delTCACAGGA||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|5/41|c.1728+37_1728+44delTCACAGGA||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|9/41|c.1728+37_1728+44delTCACAGGA||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|6/41|c.1728+37_1728+44delTCACAGGA||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|18/41|c.1728+37_1728+44delTCACAGGA||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|11/41|c.1728+37_1728+44delTCACAGGA||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|3/41|c.1728+37_1728+44delTCACAGGA||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|16/41|c.1728+37_1728+44delTCACAGGA||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|8/41|c.1728+37_1728+44delTCACAGGA||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|4/41|c.1728+37_1728+44delTCACAGGA||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|17/41|c.1728+37_1728+44delTCACAGGA||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|14/41|c.1728+37_1728+44delTCACAGGA||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|7/41|c.1728+37_1728+44delTCACAGGA||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|10/41|c.1728+37_1728+44delTCACAGGA||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|12/41|c.1728+37_1728+44delTCACAGGA||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|2/41|c.1728+37_1728+44delTCACAGGA||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|15/41|c.1728+37_1728+44delTCACAGGA||||||,|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|19/41|c.1728+37_1728+44delTCACAGGA||||||,|downstream_gene_variant|MODIFIER|RN7SL349P|ENSG00000266345|transcript|ENST00000582364|misc_RNA||n.*258_*258delTCACAGGA|||||3939|,|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000477189|retained_intron||n.*572_*572delTCACAGGA|||||4508|,|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|14/40|c.1728+37_1728+44delTCACAGGA|||||| 22 36708084 . C T . . ANN=T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|13/41|c.1728+10G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|5/41|c.1728+10G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|9/41|c.1728+10G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|6/41|c.1728+10G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|18/41|c.1728+10G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|11/41|c.1728+10G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|3/41|c.1728+10G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|16/41|c.1728+10G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|8/41|c.1728+10G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|4/41|c.1728+10G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|17/41|c.1728+10G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|14/41|c.1728+10G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|7/41|c.1728+10G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|10/41|c.1728+10G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|12/41|c.1728+10G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|2/41|c.1728+10G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|15/41|c.1728+10G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|19/41|c.1728+10G>A||||||,T|downstream_gene_variant|MODIFIER|RN7SL349P|ENSG00000266345|transcript|ENST00000582364|misc_RNA||n.*258G>A|||||3905|,T|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000477189|retained_intron||n.*572G>A|||||4474|,T|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|14/40|c.1728+10G>A|||||| 22 36708136 . C T . . ANN=T|synonymous_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|14/41|c.1686G>A|p.Leu562Leu|1917/7501|1686/5883|562/1960||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|13/41|c.1686G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|5/41|c.1686G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|9/41|c.1686G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|6/41|c.1686G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|18/41|c.1686G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|11/41|c.1686G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|3/41|c.1686G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|16/41|c.1686G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|8/41|c.1686G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|4/41|c.1686G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|17/41|c.1686G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|14/41|c.1686G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|7/41|c.1686G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|10/41|c.1686G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|12/41|c.1686G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|2/41|c.1686G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|15/41|c.1686G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|19/41|c.1686G>A||||||,T|downstream_gene_variant|MODIFIER|RN7SL349P|ENSG00000266345|transcript|ENST00000582364|misc_RNA||n.*258G>A|||||3853|,T|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000477189|retained_intron||n.*572G>A|||||4422| 22 36708196 . G A . . ANN=A|synonymous_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|14/41|c.1626C>T|p.Phe542Phe|1857/7501|1626/5883|542/1960||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|13/41|c.1626C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|5/41|c.1626C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|9/41|c.1626C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|6/41|c.1626C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|18/41|c.1626C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|11/41|c.1626C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|3/41|c.1626C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|16/41|c.1626C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|8/41|c.1626C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|4/41|c.1626C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|17/41|c.1626C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|14/41|c.1626C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|7/41|c.1626C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|10/41|c.1626C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|12/41|c.1626C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|2/41|c.1626C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|15/41|c.1626C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|19/41|c.1626C>T||||||,A|downstream_gene_variant|MODIFIER|RN7SL349P|ENSG00000266345|transcript|ENST00000582364|misc_RNA||n.*258C>T|||||3793|,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000477189|retained_intron||n.*572C>T|||||4362| 22 36708244 . G C . . ANN=C|synonymous_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|14/41|c.1578C>G|p.Ala526Ala|1809/7501|1578/5883|526/1960||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|13/41|c.1578C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|5/41|c.1578C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|9/41|c.1578C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|6/41|c.1578C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|18/41|c.1578C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|11/41|c.1578C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|3/41|c.1578C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|16/41|c.1578C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|8/41|c.1578C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|4/41|c.1578C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|17/41|c.1578C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|14/41|c.1578C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|7/41|c.1578C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|10/41|c.1578C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|12/41|c.1578C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|2/41|c.1578C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|15/41|c.1578C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|19/41|c.1578C>G||||||,C|downstream_gene_variant|MODIFIER|RN7SL349P|ENSG00000266345|transcript|ENST00000582364|misc_RNA||n.*258C>G|||||3745|,C|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000477189|retained_intron||n.*572C>G|||||4314| 22 36708256 . C T . . ANN=T|synonymous_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|14/41|c.1566G>A|p.Pro522Pro|1797/7501|1566/5883|522/1960||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|13/41|c.1566G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|5/41|c.1566G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|9/41|c.1566G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|6/41|c.1566G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|18/41|c.1566G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|11/41|c.1566G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|3/41|c.1566G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|16/41|c.1566G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|8/41|c.1566G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|4/41|c.1566G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|17/41|c.1566G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|14/41|c.1566G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|7/41|c.1566G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|10/41|c.1566G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|12/41|c.1566G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|2/41|c.1566G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|15/41|c.1566G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|19/41|c.1566G>A||||||,T|downstream_gene_variant|MODIFIER|RN7SL349P|ENSG00000266345|transcript|ENST00000582364|misc_RNA||n.*258G>A|||||3733|,T|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000477189|retained_intron||n.*572G>A|||||4302| 22 36708279 . G A . . ANN=A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|13/41|c.1555-12C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|5/41|c.1555-12C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|9/41|c.1555-12C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|6/41|c.1555-12C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|18/41|c.1555-12C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|11/41|c.1555-12C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|3/41|c.1555-12C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|16/41|c.1555-12C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|8/41|c.1555-12C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|4/41|c.1555-12C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|17/41|c.1555-12C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|14/41|c.1555-12C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|7/41|c.1555-12C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|10/41|c.1555-12C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|12/41|c.1555-12C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|2/41|c.1555-12C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|15/41|c.1555-12C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|19/41|c.1555-12C>T||||||,A|downstream_gene_variant|MODIFIER|RN7SL349P|ENSG00000266345|transcript|ENST00000582364|misc_RNA||n.*258C>T|||||3710|,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000477189|retained_intron||n.*572C>T|||||4279|,A|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|13/40|c.1555-12C>T|||||| 22 36708317 . C A . . ANN=A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|13/41|c.1555-50G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|5/41|c.1555-50G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|9/41|c.1555-50G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|6/41|c.1555-50G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|18/41|c.1555-50G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|11/41|c.1555-50G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|3/41|c.1555-50G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|16/41|c.1555-50G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|8/41|c.1555-50G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|4/41|c.1555-50G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|17/41|c.1555-50G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|14/41|c.1555-50G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|7/41|c.1555-50G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|10/41|c.1555-50G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|12/41|c.1555-50G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|2/41|c.1555-50G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|15/41|c.1555-50G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|19/41|c.1555-50G>T||||||,A|downstream_gene_variant|MODIFIER|RN7SL349P|ENSG00000266345|transcript|ENST00000582364|misc_RNA||n.*258G>T|||||3672|,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000477189|retained_intron||n.*572G>T|||||4241|,A|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|13/40|c.1555-50G>T|||||| 22 36710169 . C CAAA . . ANN=AAA|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|13/41|c.1554+18_1554+20dupTTT||||||,AAA|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|5/41|c.1554+18_1554+20dupTTT||||||,AAA|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|9/41|c.1554+18_1554+20dupTTT||||||,AAA|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|6/41|c.1554+18_1554+20dupTTT||||||,AAA|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|18/41|c.1554+18_1554+20dupTTT||||||,AAA|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|11/41|c.1554+18_1554+20dupTTT||||||,AAA|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|3/41|c.1554+18_1554+20dupTTT||||||,AAA|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|16/41|c.1554+18_1554+20dupTTT||||||,AAA|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|8/41|c.1554+18_1554+20dupTTT||||||,AAA|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|4/41|c.1554+18_1554+20dupTTT||||||,AAA|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|17/41|c.1554+18_1554+20dupTTT||||||,AAA|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|14/41|c.1554+18_1554+20dupTTT||||||,AAA|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|7/41|c.1554+18_1554+20dupTTT||||||,AAA|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|10/41|c.1554+18_1554+20dupTTT||||||,AAA|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|12/41|c.1554+18_1554+20dupTTT||||||,AAA|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|2/41|c.1554+18_1554+20dupTTT||||||,AAA|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|15/41|c.1554+18_1554+20dupTTT||||||,AAA|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|19/41|c.1554+18_1554+20dupTTT||||||,AAA|downstream_gene_variant|MODIFIER|RN7SL349P|ENSG00000266345|transcript|ENST00000582364|misc_RNA||n.*258_*258dupTTT|||||1819|,AAA|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000477189|retained_intron||n.*572_*572dupTTT|||||2388|,AAA|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|13/40|c.1554+18_1554+20dupTTT|||||| 22 36710183 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|13/40|c.1554+7A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|13/41|c.1554+7A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|5/41|c.1554+7A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|9/41|c.1554+7A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|6/41|c.1554+7A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|18/41|c.1554+7A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|11/41|c.1554+7A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|3/41|c.1554+7A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|16/41|c.1554+7A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|8/41|c.1554+7A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|4/41|c.1554+7A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|17/41|c.1554+7A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|14/41|c.1554+7A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|7/41|c.1554+7A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|10/41|c.1554+7A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|12/41|c.1554+7A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|2/41|c.1554+7A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|15/41|c.1554+7A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|19/41|c.1554+7A>G||||||,C|downstream_gene_variant|MODIFIER|RN7SL349P|ENSG00000266345|transcript|ENST00000582364|misc_RNA||n.*258A>G|||||1806|,C|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000477189|retained_intron||n.*572A>G|||||2375| 22 36710394 . C T . . ANN=T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|13/41|c.1381-31G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|5/41|c.1381-31G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|9/41|c.1381-31G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|6/41|c.1381-31G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|18/41|c.1381-31G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|11/41|c.1381-31G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|3/41|c.1381-31G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|16/41|c.1381-31G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|8/41|c.1381-31G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|4/41|c.1381-31G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|17/41|c.1381-31G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|14/41|c.1381-31G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|7/41|c.1381-31G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|10/41|c.1381-31G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|12/41|c.1381-31G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|2/41|c.1381-31G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|15/41|c.1381-31G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|19/41|c.1381-31G>A||||||,T|downstream_gene_variant|MODIFIER|RN7SL349P|ENSG00000266345|transcript|ENST00000582364|misc_RNA||n.*258G>A|||||1595|,T|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000477189|retained_intron||n.*572G>A|||||2164|,T|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|12/40|c.1381-31G>A|||||| 22 36712549 . G A . . ANN=A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|13/41|c.1380+13C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|5/41|c.1380+13C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|9/41|c.1380+13C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|6/41|c.1380+13C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|18/41|c.1380+13C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|11/41|c.1380+13C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|3/41|c.1380+13C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|16/41|c.1380+13C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|8/41|c.1380+13C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|4/41|c.1380+13C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|17/41|c.1380+13C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|14/41|c.1380+13C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|7/41|c.1380+13C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|10/41|c.1380+13C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|12/41|c.1380+13C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|2/41|c.1380+13C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|15/41|c.1380+13C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|19/41|c.1380+13C>T||||||,A|upstream_gene_variant|MODIFIER|RN7SL349P|ENSG00000266345|transcript|ENST00000582364|misc_RNA||n.-1C>T|||||303|,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000477189|retained_intron||n.*572C>T|||||9|,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000472210|processed_transcript||n.*387C>T|||||3737|,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000463027|processed_transcript||n.*562C>T|||||3770|,A|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|12/40|c.1380+13C>T|||||| 22 36712598 . G A . . 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T G . . 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C T . . 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G A . . 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G A . . 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G A . . ANN=A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|13/41|c.1109-36C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|5/41|c.1109-36C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|9/41|c.1109-36C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|6/41|c.1109-36C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|18/41|c.1109-36C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|11/41|c.1109-36C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|3/41|c.1109-36C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|16/41|c.1109-36C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|8/41|c.1109-36C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|4/41|c.1109-36C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|17/41|c.1109-36C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|14/41|c.1109-36C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|7/41|c.1109-36C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|10/41|c.1109-36C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|12/41|c.1109-36C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|2/41|c.1109-36C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|15/41|c.1109-36C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|19/41|c.1109-36C>T||||||,A|upstream_gene_variant|MODIFIER|RN7SL349P|ENSG00000266345|transcript|ENST00000582364|misc_RNA||n.-1C>T|||||2160|,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000472210|processed_transcript||n.*387C>T|||||1880|,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000463027|processed_transcript||n.*562C>T|||||1913|,A|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|10/40|c.1109-36C>T||||||,A|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000477189|retained_intron|1/2|n.297-36C>T|||||| 22 36715547 . C T . . 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G A . . ANN=A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|13/41|c.1108+19C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|5/41|c.1108+19C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|9/41|c.1108+19C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|6/41|c.1108+19C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|18/41|c.1108+19C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|11/41|c.1108+19C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|3/41|c.1108+19C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|16/41|c.1108+19C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|8/41|c.1108+19C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|4/41|c.1108+19C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|17/41|c.1108+19C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|14/41|c.1108+19C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|7/41|c.1108+19C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|10/41|c.1108+19C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|12/41|c.1108+19C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|2/41|c.1108+19C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|15/41|c.1108+19C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|19/41|c.1108+19C>T||||||,A|upstream_gene_variant|MODIFIER|RN7SL349P|ENSG00000266345|transcript|ENST00000582364|misc_RNA||n.-1C>T|||||3320|,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000472210|processed_transcript||n.*387C>T|||||720|,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000463027|processed_transcript||n.*562C>T|||||753|,A|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|10/40|c.1108+19C>T||||||,A|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000477189|retained_intron|1/2|n.296+19C>T|||||| 22 36715576 . G A . . ANN=A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|13/41|c.1108+9C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|5/41|c.1108+9C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|9/41|c.1108+9C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|6/41|c.1108+9C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|18/41|c.1108+9C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|11/41|c.1108+9C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|3/41|c.1108+9C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|16/41|c.1108+9C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|8/41|c.1108+9C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|4/41|c.1108+9C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|17/41|c.1108+9C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|14/41|c.1108+9C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|7/41|c.1108+9C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|10/41|c.1108+9C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|12/41|c.1108+9C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|2/41|c.1108+9C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|15/41|c.1108+9C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|19/41|c.1108+9C>T||||||,A|upstream_gene_variant|MODIFIER|RN7SL349P|ENSG00000266345|transcript|ENST00000582364|misc_RNA||n.-1C>T|||||3330|,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000472210|processed_transcript||n.*387C>T|||||710|,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000463027|processed_transcript||n.*562C>T|||||743|,A|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|10/40|c.1108+9C>T||||||,A|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000477189|retained_intron|1/2|n.296+9C>T|||||| 22 36715595 . G A . . ANN=A|synonymous_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|10/41|c.1098C>T|p.Pro366Pro|1329/7501|1098/5883|366/1960||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|13/41|c.1098C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|5/41|c.1098C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|9/41|c.1098C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|6/41|c.1098C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|18/41|c.1098C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|11/41|c.1098C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|3/41|c.1098C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|16/41|c.1098C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|8/41|c.1098C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|4/41|c.1098C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|17/41|c.1098C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|14/41|c.1098C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|7/41|c.1098C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|10/41|c.1098C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|12/41|c.1098C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|2/41|c.1098C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|15/41|c.1098C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|19/41|c.1098C>T||||||,A|upstream_gene_variant|MODIFIER|RN7SL349P|ENSG00000266345|transcript|ENST00000582364|misc_RNA||n.-1C>T|||||3349|,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000472210|processed_transcript||n.*387C>T|||||691|,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000463027|processed_transcript||n.*562C>T|||||724|,A|non_coding_exon_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000477189|retained_intron|1/3|n.286C>T|||||| 22 36715610 . G A . . ANN=A|synonymous_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|10/41|c.1083C>T|p.Asp361Asp|1314/7501|1083/5883|361/1960||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|13/41|c.1083C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|5/41|c.1083C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|9/41|c.1083C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|6/41|c.1083C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|18/41|c.1083C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|11/41|c.1083C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|3/41|c.1083C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|16/41|c.1083C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|8/41|c.1083C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|4/41|c.1083C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|17/41|c.1083C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|14/41|c.1083C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|7/41|c.1083C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|10/41|c.1083C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|12/41|c.1083C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|2/41|c.1083C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|15/41|c.1083C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|19/41|c.1083C>T||||||,A|upstream_gene_variant|MODIFIER|RN7SL349P|ENSG00000266345|transcript|ENST00000582364|misc_RNA||n.-1C>T|||||3364|,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000472210|processed_transcript||n.*387C>T|||||676|,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000463027|processed_transcript||n.*562C>T|||||709|,A|non_coding_exon_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000477189|retained_intron|1/3|n.271C>T|||||| 22 36716349 . T C . . ANN=C|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|9/41|c.928A>G|p.Ile310Val|1159/7501|928/5883|310/1960||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|13/41|c.928A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|5/41|c.928A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|9/41|c.928A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|6/41|c.928A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|18/41|c.928A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|11/41|c.928A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|3/41|c.928A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|16/41|c.928A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|8/41|c.928A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|4/41|c.928A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|17/41|c.928A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|14/41|c.928A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|7/41|c.928A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|10/41|c.928A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|12/41|c.928A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|2/41|c.928A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|15/41|c.928A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|19/41|c.928A>G||||||,C|upstream_gene_variant|MODIFIER|RN7SL349P|ENSG00000266345|transcript|ENST00000582364|misc_RNA||n.-1A>G|||||4103|,C|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000477189|retained_intron||n.-1A>G|||||469|,C|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000401701|protein_coding||c.*743A>G|||||4729|,C|non_coding_exon_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000472210|processed_transcript|3/3|n.324A>G||||||,C|non_coding_exon_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000463027|processed_transcript|7/7|n.532A>G|||||| 22 36716433 . G A . . ANN=A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|13/41|c.869-25C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|5/41|c.869-25C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|9/41|c.869-25C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|6/41|c.869-25C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|18/41|c.869-25C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|11/41|c.869-25C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|3/41|c.869-25C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|16/41|c.869-25C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|8/41|c.869-25C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|4/41|c.869-25C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|17/41|c.869-25C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|14/41|c.869-25C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|7/41|c.869-25C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|10/41|c.869-25C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|12/41|c.869-25C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|2/41|c.869-25C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|15/41|c.869-25C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|19/41|c.869-25C>T||||||,A|upstream_gene_variant|MODIFIER|RN7SL349P|ENSG00000266345|transcript|ENST00000582364|misc_RNA||n.-1C>T|||||4187|,A|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000477189|retained_intron||n.-1C>T|||||553|,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000401701|protein_coding||c.*743C>T|||||4645|,A|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|8/40|c.869-25C>T||||||,A|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000472210|processed_transcript|2/2|n.265-25C>T||||||,A|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000463027|processed_transcript|6/6|n.473-25C>T|||||| 22 36716814 . C T . . ANN=T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|13/41|c.868+29G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|5/41|c.868+29G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|9/41|c.868+29G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|6/41|c.868+29G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|18/41|c.868+29G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|11/41|c.868+29G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|3/41|c.868+29G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|16/41|c.868+29G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|8/41|c.868+29G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|4/41|c.868+29G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|17/41|c.868+29G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|14/41|c.868+29G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|7/41|c.868+29G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|10/41|c.868+29G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|12/41|c.868+29G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|2/41|c.868+29G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|15/41|c.868+29G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|19/41|c.868+29G>A||||||,T|upstream_gene_variant|MODIFIER|RN7SL349P|ENSG00000266345|transcript|ENST00000582364|misc_RNA||n.-1G>A|||||4568|,T|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000477189|retained_intron||n.-1G>A|||||934|,T|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000401701|protein_coding||c.*743G>A|||||4264|,T|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|8/40|c.868+29G>A||||||,T|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000472210|processed_transcript|2/2|n.264+29G>A||||||,T|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000463027|processed_transcript|6/6|n.472+29G>A|||||| 22 36716984 . A G . . 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G A . . 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G T . . 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G A . . 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T C . . ANN=C|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|7/41|c.721A>G|p.Ile241Val|952/7501|721/5883|241/1960||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|13/41|c.721A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|5/41|c.721A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|9/41|c.721A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|6/41|c.721A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|18/41|c.721A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|11/41|c.721A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|3/41|c.721A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|16/41|c.721A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|8/41|c.721A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|4/41|c.721A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|17/41|c.721A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|14/41|c.721A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|7/41|c.721A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|10/41|c.721A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|12/41|c.721A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|2/41|c.721A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|15/41|c.721A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|19/41|c.721A>G||||||,C|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000477189|retained_intron||n.-1A>G|||||1971|,C|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000401701|protein_coding||c.*743A>G|||||3227|,C|non_coding_exon_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000472210|processed_transcript|1/3|n.117A>G||||||,C|non_coding_exon_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000463027|processed_transcript|5/7|n.325A>G|||||| 22 36717858 . G A . . ANN=A|synonymous_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|7/41|c.714C>T|p.Phe238Phe|945/7501|714/5883|238/1960||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|13/41|c.714C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|5/41|c.714C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|9/41|c.714C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|6/41|c.714C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|18/41|c.714C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|11/41|c.714C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|3/41|c.714C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|16/41|c.714C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|8/41|c.714C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|4/41|c.714C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|17/41|c.714C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|14/41|c.714C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|7/41|c.714C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|10/41|c.714C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|12/41|c.714C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|2/41|c.714C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|15/41|c.714C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|19/41|c.714C>T||||||,A|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000477189|retained_intron||n.-1C>T|||||1978|,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000401701|protein_coding||c.*743C>T|||||3220|,A|non_coding_exon_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000472210|processed_transcript|1/3|n.110C>T||||||,A|non_coding_exon_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000463027|processed_transcript|5/7|n.318C>T|||||| 22 36718451 . C T . . 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G A . . ANN=A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|13/41|c.705+17C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|5/41|c.705+17C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|9/41|c.705+17C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|6/41|c.705+17C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|18/41|c.705+17C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|11/41|c.705+17C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|3/41|c.705+17C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|16/41|c.705+17C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|8/41|c.705+17C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|4/41|c.705+17C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|17/41|c.705+17C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|14/41|c.705+17C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|7/41|c.705+17C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|10/41|c.705+17C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|12/41|c.705+17C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|2/41|c.705+17C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|15/41|c.705+17C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|19/41|c.705+17C>T||||||,A|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000477189|retained_intron||n.-1C>T|||||2577|,A|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000472210|processed_transcript||n.-1C>T|||||490|,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000401701|protein_coding||c.*743C>T|||||2621|,A|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|6/40|c.705+17C>T||||||,A|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000463027|processed_transcript|4/6|n.309+17C>T|||||| 22 36718460 . G A . . ANN=A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|13/41|c.705+14C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|5/41|c.705+14C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|9/41|c.705+14C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|6/41|c.705+14C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|18/41|c.705+14C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|11/41|c.705+14C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|3/41|c.705+14C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|16/41|c.705+14C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|8/41|c.705+14C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|4/41|c.705+14C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|17/41|c.705+14C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|14/41|c.705+14C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|7/41|c.705+14C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|10/41|c.705+14C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|12/41|c.705+14C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|2/41|c.705+14C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|15/41|c.705+14C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|19/41|c.705+14C>T||||||,A|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000477189|retained_intron||n.-1C>T|||||2580|,A|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000472210|processed_transcript||n.-1C>T|||||493|,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000401701|protein_coding||c.*743C>T|||||2618|,A|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|6/40|c.705+14C>T||||||,A|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000463027|processed_transcript|4/6|n.309+14C>T|||||| 22 36718462 . C T . . ANN=T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|13/41|c.705+12G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|5/41|c.705+12G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|9/41|c.705+12G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|6/41|c.705+12G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|18/41|c.705+12G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|11/41|c.705+12G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|3/41|c.705+12G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|16/41|c.705+12G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|8/41|c.705+12G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|4/41|c.705+12G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|17/41|c.705+12G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|14/41|c.705+12G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|7/41|c.705+12G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|10/41|c.705+12G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|12/41|c.705+12G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|2/41|c.705+12G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|15/41|c.705+12G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|19/41|c.705+12G>A||||||,T|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000477189|retained_intron||n.-1G>A|||||2582|,T|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000472210|processed_transcript||n.-1G>A|||||495|,T|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000401701|protein_coding||c.*743G>A|||||2616|,T|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|6/40|c.705+12G>A||||||,T|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000463027|processed_transcript|4/6|n.309+12G>A|||||| 22 36718564 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|6/41|c.615C>T|p.Gly205Gly|846/7501|615/5883|205/1960||,A|splice_region_variant&non_coding_exon_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000463027|processed_transcript|4/7|n.219C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|13/41|c.615C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|5/41|c.615C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|9/41|c.615C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|6/41|c.615C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|18/41|c.615C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|11/41|c.615C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|3/41|c.615C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|16/41|c.615C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|8/41|c.615C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|4/41|c.615C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|17/41|c.615C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|14/41|c.615C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|7/41|c.615C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|10/41|c.615C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|12/41|c.615C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|2/41|c.615C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|15/41|c.615C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|19/41|c.615C>T||||||,A|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000477189|retained_intron||n.-1C>T|||||2684|,A|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000472210|processed_transcript||n.-1C>T|||||597|,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000401701|protein_coding||c.*743C>T|||||2514| 22 36718598 . G A . . ANN=A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|13/41|c.613-32C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|5/41|c.613-32C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|9/41|c.613-32C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|6/41|c.613-32C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|18/41|c.613-32C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|11/41|c.613-32C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|3/41|c.613-32C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|16/41|c.613-32C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|8/41|c.613-32C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|4/41|c.613-32C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|17/41|c.613-32C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|14/41|c.613-32C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|7/41|c.613-32C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|10/41|c.613-32C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|12/41|c.613-32C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|2/41|c.613-32C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|15/41|c.613-32C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|19/41|c.613-32C>T||||||,A|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000477189|retained_intron||n.-1C>T|||||2718|,A|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000472210|processed_transcript||n.-1C>T|||||631|,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000401701|protein_coding||c.*743C>T|||||2480|,A|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|5/40|c.613-32C>T||||||,A|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000463027|processed_transcript|3/6|n.217-32C>T|||||| 22 36722634 . C T . . ANN=T|synonymous_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|5/41|c.591G>A|p.Ser197Ser|822/7501|591/5883|197/1960||,T|synonymous_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000401701|protein_coding|5/6|c.591G>A|p.Ser197Ser|677/789|591/657|197/218||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|13/41|c.591G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|5/41|c.591G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|9/41|c.591G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|6/41|c.591G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|18/41|c.591G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|11/41|c.591G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|3/41|c.591G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|16/41|c.591G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|8/41|c.591G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|4/41|c.591G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|17/41|c.591G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|14/41|c.591G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|7/41|c.591G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|10/41|c.591G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|12/41|c.591G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|2/41|c.591G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|15/41|c.591G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|19/41|c.591G>A||||||,T|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000472210|processed_transcript||n.-1G>A|||||4667|,T|non_coding_exon_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000463027|processed_transcript|3/7|n.195G>A|||||| 22 36722682 . C T . . ANN=T|synonymous_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|5/41|c.543G>A|p.Thr181Thr|774/7501|543/5883|181/1960||,T|synonymous_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000401701|protein_coding|5/6|c.543G>A|p.Thr181Thr|629/789|543/657|181/218||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|13/41|c.543G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|5/41|c.543G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|9/41|c.543G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|6/41|c.543G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|18/41|c.543G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|11/41|c.543G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|3/41|c.543G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|16/41|c.543G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|8/41|c.543G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|4/41|c.543G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|17/41|c.543G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|14/41|c.543G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|7/41|c.543G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|10/41|c.543G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|12/41|c.543G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|2/41|c.543G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|15/41|c.543G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|19/41|c.543G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|nucleotide_phosphate-binding_region:ATP|ENST00000216181|protein_coding|5/41|c.543G>A||||||,T|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000472210|processed_transcript||n.-1G>A|||||4715|,T|non_coding_exon_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000463027|processed_transcript|3/7|n.147G>A|||||| 22 36723483 . T C . . ANN=C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|13/41|c.518+23A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|5/41|c.518+23A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|9/41|c.518+23A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|6/41|c.518+23A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|18/41|c.518+23A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|11/41|c.518+23A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|3/41|c.518+23A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|16/41|c.518+23A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|8/41|c.518+23A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|4/41|c.518+23A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|17/41|c.518+23A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|14/41|c.518+23A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|7/41|c.518+23A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|10/41|c.518+23A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|12/41|c.518+23A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|2/41|c.518+23A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|15/41|c.518+23A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|19/41|c.518+23A>G||||||,C|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|4/40|c.518+23A>G||||||,C|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000463027|processed_transcript|2/6|n.122+23A>G||||||,C|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000401701|protein_coding|4/5|c.518+23A>G|||||| 22 36744925 . C A,T . . ANN=A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|13/41|c.333+24G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|5/41|c.333+24G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|9/41|c.333+24G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|6/41|c.333+24G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|18/41|c.333+24G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|11/41|c.333+24G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|3/41|c.333+24G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|16/41|c.333+24G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|8/41|c.333+24G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|4/41|c.333+24G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|17/41|c.333+24G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|14/41|c.333+24G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|7/41|c.333+24G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|10/41|c.333+24G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|12/41|c.333+24G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|2/41|c.333+24G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|15/41|c.333+24G>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|19/41|c.333+24G>T||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|13/41|c.333+24G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|5/41|c.333+24G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|9/41|c.333+24G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|6/41|c.333+24G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|18/41|c.333+24G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|11/41|c.333+24G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|3/41|c.333+24G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|16/41|c.333+24G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|8/41|c.333+24G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|4/41|c.333+24G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|17/41|c.333+24G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|14/41|c.333+24G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|7/41|c.333+24G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|10/41|c.333+24G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|12/41|c.333+24G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|2/41|c.333+24G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|15/41|c.333+24G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|19/41|c.333+24G>A||||||,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000456729|protein_coding||c.*449G>T|||||48|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000456729|protein_coding||c.*449G>A|||||48|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|2/40|c.333+24G>T||||||,T|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|2/40|c.333+24G>A||||||,A|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000401701|protein_coding|2/5|c.333+24G>T||||||,T|intron_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000401701|protein_coding|2/5|c.333+24G>A|||||| 22 36744964 . G A . . ANN=A|synonymous_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|2/41|c.318C>T|p.Tyr106Tyr|549/7501|318/5883|106/1960||,A|synonymous_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000401701|protein_coding|2/6|c.318C>T|p.Tyr106Tyr|404/789|318/657|106/218||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|13/41|c.318C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|5/41|c.318C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|9/41|c.318C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|6/41|c.318C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|18/41|c.318C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|11/41|c.318C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|3/41|c.318C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|16/41|c.318C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|8/41|c.318C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|4/41|c.318C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|17/41|c.318C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|14/41|c.318C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|7/41|c.318C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|10/41|c.318C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|12/41|c.318C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|2/41|c.318C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|15/41|c.318C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|19/41|c.318C>T||||||,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000456729|protein_coding||c.*449C>T|||||9|WARNING_TRANSCRIPT_NO_STOP_CODON 22 36745117 . G A . . ANN=A|synonymous_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|2/41|c.165C>T|p.Ile55Ile|396/7501|165/5883|55/1960||,A|synonymous_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000401701|protein_coding|2/6|c.165C>T|p.Ile55Ile|251/789|165/657|55/218||,A|synonymous_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000456729|protein_coding|3/3|c.165C>T|p.Ile55Ile|305/449|165/309|55/102||WARNING_TRANSCRIPT_NO_STOP_CODON 22 36745146 . G A . . ANN=A|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|2/41|c.136C>T|p.Leu46Phe|367/7501|136/5883|46/1960||,A|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000401701|protein_coding|2/6|c.136C>T|p.Leu46Phe|222/789|136/657|46/218||,A|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000456729|protein_coding|3/3|c.136C>T|p.Leu46Phe|276/449|136/309|46/102||WARNING_TRANSCRIPT_NO_STOP_CODON 22 36745261 . A G . . ANN=G|synonymous_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|2/41|c.21T>C|p.Asp7Asp|252/7501|21/5883|7/1960||,G|synonymous_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000401701|protein_coding|2/6|c.21T>C|p.Asp7Asp|107/789|21/657|7/218||,G|synonymous_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000456729|protein_coding|3/3|c.21T>C|p.Asp7Asp|161/449|21/309|7/102||WARNING_TRANSCRIPT_NO_STOP_CODON 22 36745264 . G A . . ANN=A|synonymous_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|2/41|c.18C>T|p.Ala6Ala|249/7501|18/5883|6/1960||,A|synonymous_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000401701|protein_coding|2/6|c.18C>T|p.Ala6Ala|104/789|18/657|6/218||,A|synonymous_variant|LOW|MYH9|ENSG00000100345|transcript|ENST00000456729|protein_coding|3/3|c.18C>T|p.Ala6Ala|158/449|18/309|6/102||WARNING_TRANSCRIPT_NO_STOP_CODON 22 36745275 . G C . . ANN=C|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|2/41|c.7C>G|p.Gln3Glu|238/7501|7/5883|3/1960||,C|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000401701|protein_coding|2/6|c.7C>G|p.Gln3Glu|93/789|7/657|3/218||,C|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000456729|protein_coding|3/3|c.7C>G|p.Gln3Glu|147/449|7/309|3/102||WARNING_TRANSCRIPT_NO_STOP_CODON 22 36863817 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|TXN2|ENSG00000100348|transcript|ENST00000216185|protein_coding|4/4|c.*34G>A|||||34|,T|3_prime_UTR_variant|MODIFIER|TXN2|ENSG00000100348|transcript|ENST00000416967|protein_coding|4/4|c.*34G>A|||||34|,T|3_prime_UTR_variant|MODIFIER|TXN2|ENSG00000100348|transcript|ENST00000403313|protein_coding|4/4|c.*34G>A|||||34|,T|downstream_gene_variant|MODIFIER|TXN2|ENSG00000100348|transcript|ENST00000411915|nonsense_mediated_decay||n.*474G>A|||||114|,T|non_coding_exon_variant|MODIFIER|TXN2|ENSG00000100348|transcript|ENST00000487725|processed_transcript|4/4|n.515G>A|||||| 22 36872750 . T G . . ANN=G|sequence_feature|LOW|TXN2|ENSG00000100348|domain:Thioredoxin|ENST00000403313|protein_coding|3/4|c.387+30A>C||||||,G|sequence_feature|LOW|TXN2|ENSG00000100348|domain:Thioredoxin|ENST00000403313|protein_coding|2/4|c.387+30A>C||||||,G|sequence_feature|LOW|TXN2|ENSG00000100348|domain:Thioredoxin|ENST00000403313|protein_coding|4/4|c.387+30A>C||||||,G|intron_variant|MODIFIER|TXN2|ENSG00000100348|transcript|ENST00000216185|protein_coding|3/3|c.387+30A>C||||||,G|intron_variant|MODIFIER|TXN2|ENSG00000100348|transcript|ENST00000416967|protein_coding|3/3|c.81+30A>C||||||,G|intron_variant|MODIFIER|TXN2|ENSG00000100348|transcript|ENST00000487725|processed_transcript|3/3|n.367+30A>C||||||,G|intron_variant|MODIFIER|TXN2|ENSG00000100348|transcript|ENST00000403313|protein_coding|3/3|c.387+30A>C||||||,G|intron_variant|MODIFIER|TXN2|ENSG00000100348|transcript|ENST00000411915|nonsense_mediated_decay|3/4|n.387+30A>C|||||| 22 36872755 . G A . . ANN=A|sequence_feature|LOW|TXN2|ENSG00000100348|domain:Thioredoxin|ENST00000403313|protein_coding|3/4|c.387+25C>T||||||,A|sequence_feature|LOW|TXN2|ENSG00000100348|domain:Thioredoxin|ENST00000403313|protein_coding|2/4|c.387+25C>T||||||,A|sequence_feature|LOW|TXN2|ENSG00000100348|domain:Thioredoxin|ENST00000403313|protein_coding|4/4|c.387+25C>T||||||,A|intron_variant|MODIFIER|TXN2|ENSG00000100348|transcript|ENST00000216185|protein_coding|3/3|c.387+25C>T||||||,A|intron_variant|MODIFIER|TXN2|ENSG00000100348|transcript|ENST00000416967|protein_coding|3/3|c.81+25C>T||||||,A|intron_variant|MODIFIER|TXN2|ENSG00000100348|transcript|ENST00000487725|processed_transcript|3/3|n.367+25C>T||||||,A|intron_variant|MODIFIER|TXN2|ENSG00000100348|transcript|ENST00000403313|protein_coding|3/3|c.387+25C>T||||||,A|intron_variant|MODIFIER|TXN2|ENSG00000100348|transcript|ENST00000411915|nonsense_mediated_decay|3/4|n.387+25C>T|||||| 22 36872818 . C T . . ANN=T|missense_variant|MODERATE|TXN2|ENSG00000100348|transcript|ENST00000216185|protein_coding|3/4|c.349G>A|p.Asp117Asn|816/1736|349/501|117/166||,T|missense_variant|MODERATE|TXN2|ENSG00000100348|transcript|ENST00000416967|protein_coding|3/4|c.43G>A|p.Asp15Asn|370/1280|43/195|15/64||,T|missense_variant|MODERATE|TXN2|ENSG00000100348|transcript|ENST00000403313|protein_coding|3/4|c.349G>A|p.Asp117Asn|547/912|349/501|117/166||,T|sequence_feature|LOW|TXN2|ENSG00000100348|domain:Thioredoxin|ENST00000403313|protein_coding|3/4|c.349G>A||||||,T|sequence_feature|LOW|TXN2|ENSG00000100348|domain:Thioredoxin|ENST00000403313|protein_coding|2/4|c.349G>A||||||,T|sequence_feature|LOW|TXN2|ENSG00000100348|domain:Thioredoxin|ENST00000403313|protein_coding|4/4|c.349G>A||||||,T|sequence_feature|LOW|TXN2|ENSG00000100348|beta_strand|ENST00000403313|protein_coding|3/4|c.349G>A||||||,T|non_coding_exon_variant|MODIFIER|TXN2|ENSG00000100348|transcript|ENST00000487725|processed_transcript|3/4|n.329G>A||||||,T|non_coding_exon_variant|MODIFIER|TXN2|ENSG00000100348|transcript|ENST00000411915|nonsense_mediated_decay|3/5|n.349G>A|||||| 22 36872873 . C T . . ANN=T|synonymous_variant|LOW|TXN2|ENSG00000100348|transcript|ENST00000216185|protein_coding|3/4|c.294G>A|p.Pro98Pro|761/1736|294/501|98/166||,T|synonymous_variant|LOW|TXN2|ENSG00000100348|transcript|ENST00000403313|protein_coding|3/4|c.294G>A|p.Pro98Pro|492/912|294/501|98/166||,T|sequence_feature|LOW|TXN2|ENSG00000100348|domain:Thioredoxin|ENST00000403313|protein_coding|3/4|c.294G>A||||||,T|sequence_feature|LOW|TXN2|ENSG00000100348|domain:Thioredoxin|ENST00000403313|protein_coding|2/4|c.294G>A||||||,T|sequence_feature|LOW|TXN2|ENSG00000100348|domain:Thioredoxin|ENST00000403313|protein_coding|4/4|c.294G>A||||||,T|sequence_feature|LOW|TXN2|ENSG00000100348|helix|ENST00000403313|protein_coding|3/4|c.294G>A||||||,T|5_prime_UTR_variant|MODIFIER|TXN2|ENSG00000100348|transcript|ENST00000416967|protein_coding|3/4|c.-13G>A|||||13|,T|non_coding_exon_variant|MODIFIER|TXN2|ENSG00000100348|transcript|ENST00000487725|processed_transcript|3/4|n.274G>A||||||,T|non_coding_exon_variant|MODIFIER|TXN2|ENSG00000100348|transcript|ENST00000411915|nonsense_mediated_decay|3/5|n.294G>A|||||| 22 36876622 . T C . . ANN=C|missense_variant&splice_region_variant|MODERATE|TXN2|ENSG00000100348|transcript|ENST00000216185|protein_coding|2/4|c.263A>G|p.Gln88Arg|730/1736|263/501|88/166||,C|missense_variant&splice_region_variant|MODERATE|TXN2|ENSG00000100348|transcript|ENST00000403313|protein_coding|2/4|c.263A>G|p.Gln88Arg|461/912|263/501|88/166||,C|splice_region_variant|LOW|TXN2|ENSG00000100348|transcript|ENST00000416967|protein_coding|2/4|c.-44A>G||||||,C|splice_region_variant&non_coding_exon_variant|LOW|TXN2|ENSG00000100348|transcript|ENST00000487725|processed_transcript|2/4|n.243A>G||||||,C|splice_region_variant&non_coding_exon_variant|LOW|TXN2|ENSG00000100348|transcript|ENST00000411915|nonsense_mediated_decay|2/5|n.263A>G||||||,C|sequence_feature|LOW|TXN2|ENSG00000100348|domain:Thioredoxin|ENST00000403313|protein_coding|3/4|c.263A>G||||||,C|sequence_feature|LOW|TXN2|ENSG00000100348|domain:Thioredoxin|ENST00000403313|protein_coding|2/4|c.263A>G||||||,C|sequence_feature|LOW|TXN2|ENSG00000100348|domain:Thioredoxin|ENST00000403313|protein_coding|4/4|c.263A>G||||||,C|5_prime_UTR_variant|MODIFIER|TXN2|ENSG00000100348|transcript|ENST00000416967|protein_coding|2/4|c.-44A>G|||||3762| 22 36876729 . T C . . ANN=C|missense_variant|MODERATE|TXN2|ENSG00000100348|transcript|ENST00000216185|protein_coding|2/4|c.156A>G|p.Ile52Met|623/1736|156/501|52/166||,C|missense_variant|MODERATE|TXN2|ENSG00000100348|transcript|ENST00000403313|protein_coding|2/4|c.156A>G|p.Ile52Met|354/912|156/501|52/166||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|TXN2|ENSG00000100348|transcript|ENST00000416967|protein_coding|2/4|c.-151A>G||||||,C|sequence_feature|LOW|TXN2|ENSG00000100348|transit_peptide:Mitochondrion|ENST00000403313|protein_coding|2/4|c.156A>G||||||,C|5_prime_UTR_variant|MODIFIER|TXN2|ENSG00000100348|transcript|ENST00000416967|protein_coding|2/4|c.-151A>G|||||3869|,C|non_coding_exon_variant|MODIFIER|TXN2|ENSG00000100348|transcript|ENST00000487725|processed_transcript|2/4|n.136A>G||||||,C|non_coding_exon_variant|MODIFIER|TXN2|ENSG00000100348|transcript|ENST00000411915|nonsense_mediated_decay|2/5|n.156A>G|||||| 22 36876852 . C T . . ANN=T|synonymous_variant|LOW|TXN2|ENSG00000100348|transcript|ENST00000216185|protein_coding|2/4|c.33G>A|p.Leu11Leu|500/1736|33/501|11/166||,T|synonymous_variant|LOW|TXN2|ENSG00000100348|transcript|ENST00000403313|protein_coding|2/4|c.33G>A|p.Leu11Leu|231/912|33/501|11/166||,T|sequence_feature|LOW|TXN2|ENSG00000100348|transit_peptide:Mitochondrion|ENST00000403313|protein_coding|2/4|c.33G>A||||||,T|intron_variant|MODIFIER|TXN2|ENSG00000100348|transcript|ENST00000416967|protein_coding|1/3|c.-256-18G>A||||||,T|intron_variant|MODIFIER|TXN2|ENSG00000100348|transcript|ENST00000487725|processed_transcript|1/3|n.70-57G>A||||||,T|non_coding_exon_variant|MODIFIER|TXN2|ENSG00000100348|transcript|ENST00000411915|nonsense_mediated_decay|2/5|n.33G>A|||||| 22 36886078 . C T . . ANN=T|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|9/9|c.2032G>A|p.Asp678Asn|2144/3933|2032/2055|678/684||,T|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|9/9|c.2032G>A|p.Asp678Asn|2126/4967|2032/2055|678/684||,T|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000366463|protein_coding|4/4|c.688G>A|p.Asp230Asn|1057/2489|688/711|230/236||,T|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|8/8|c.2032G>A|p.Asp678Asn|2140/2184|2032/2055|678/684|| 22 36886112 . G A . . ANN=A|synonymous_variant|LOW|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|9/9|c.1998C>T|p.Ser666Ser|2110/3933|1998/2055|666/684||,A|synonymous_variant|LOW|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|9/9|c.1998C>T|p.Ser666Ser|2092/4967|1998/2055|666/684||,A|synonymous_variant|LOW|FOXRED2|ENSG00000100350|transcript|ENST00000366463|protein_coding|4/4|c.654C>T|p.Ser218Ser|1023/2489|654/711|218/236||,A|synonymous_variant|LOW|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|8/8|c.1998C>T|p.Ser666Ser|2106/2184|1998/2055|666/684|| 22 36886178 . A G . . ANN=G|synonymous_variant|LOW|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|9/9|c.1932T>C|p.Tyr644Tyr|2044/3933|1932/2055|644/684||,G|synonymous_variant|LOW|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|9/9|c.1932T>C|p.Tyr644Tyr|2026/4967|1932/2055|644/684||,G|synonymous_variant|LOW|FOXRED2|ENSG00000100350|transcript|ENST00000366463|protein_coding|4/4|c.588T>C|p.Tyr196Tyr|957/2489|588/711|196/236||,G|synonymous_variant|LOW|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|8/8|c.1932T>C|p.Tyr644Tyr|2040/2184|1932/2055|644/684|| 22 36886199 . C G . . ANN=G|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|9/9|c.1911G>C|p.Glu637Asp|2023/3933|1911/2055|637/684||,G|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|9/9|c.1911G>C|p.Glu637Asp|2005/4967|1911/2055|637/684||,G|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000366463|protein_coding|4/4|c.567G>C|p.Glu189Asp|936/2489|567/711|189/236||,G|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|8/8|c.1911G>C|p.Glu637Asp|2019/2184|1911/2055|637/684|| 22 36886226 . G A . . ANN=A|synonymous_variant|LOW|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|9/9|c.1884C>T|p.Thr628Thr|1996/3933|1884/2055|628/684||,A|synonymous_variant|LOW|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|9/9|c.1884C>T|p.Thr628Thr|1978/4967|1884/2055|628/684||,A|synonymous_variant|LOW|FOXRED2|ENSG00000100350|transcript|ENST00000366463|protein_coding|4/4|c.540C>T|p.Thr180Thr|909/2489|540/711|180/236||,A|synonymous_variant|LOW|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|8/8|c.1884C>T|p.Thr628Thr|1992/2184|1884/2055|628/684|| 22 36886288 . G A . . ANN=A|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|9/9|c.1822C>T|p.Arg608Cys|1934/3933|1822/2055|608/684||,A|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|9/9|c.1822C>T|p.Arg608Cys|1916/4967|1822/2055|608/684||,A|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000366463|protein_coding|4/4|c.478C>T|p.Arg160Cys|847/2489|478/711|160/236||,A|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|8/8|c.1822C>T|p.Arg608Cys|1930/2184|1822/2055|608/684|| 22 36886332 . G A . . ANN=A|intron_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|8/8|c.1796-18C>T||||||,A|intron_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|8/8|c.1796-18C>T||||||,A|intron_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000366463|protein_coding|3/3|c.452-18C>T||||||,A|intron_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|7/7|c.1796-18C>T|||||| 22 36889645 . C T . . ANN=T|intron_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|8/8|c.1795+35G>A||||||,T|intron_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|8/8|c.1795+35G>A||||||,T|intron_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000366463|protein_coding|3/3|c.451+35G>A||||||,T|intron_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|7/7|c.1795+35G>A|||||| 22 36889665 . G A . . ANN=A|intron_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|8/8|c.1795+15C>T||||||,A|intron_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|8/8|c.1795+15C>T||||||,A|intron_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000366463|protein_coding|3/3|c.451+15C>T||||||,A|intron_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|7/7|c.1795+15C>T|||||| 22 36889710 . A G . . ANN=G|synonymous_variant|LOW|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|8/9|c.1765T>C|p.Leu589Leu|1877/3933|1765/2055|589/684||,G|synonymous_variant|LOW|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|8/9|c.1765T>C|p.Leu589Leu|1859/4967|1765/2055|589/684||,G|synonymous_variant|LOW|FOXRED2|ENSG00000100350|transcript|ENST00000366463|protein_coding|3/4|c.421T>C|p.Leu141Leu|790/2489|421/711|141/236||,G|synonymous_variant|LOW|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|7/8|c.1765T>C|p.Leu589Leu|1873/2184|1765/2055|589/684|| 22 36889753 . C T . . ANN=T|synonymous_variant|LOW|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|8/9|c.1722G>A|p.Pro574Pro|1834/3933|1722/2055|574/684||,T|synonymous_variant|LOW|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|8/9|c.1722G>A|p.Pro574Pro|1816/4967|1722/2055|574/684||,T|synonymous_variant|LOW|FOXRED2|ENSG00000100350|transcript|ENST00000366463|protein_coding|3/4|c.378G>A|p.Pro126Pro|747/2489|378/711|126/236||,T|synonymous_variant|LOW|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|7/8|c.1722G>A|p.Pro574Pro|1830/2184|1722/2055|574/684|| 22 36889816 . G A . . ANN=A|synonymous_variant|LOW|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|8/9|c.1659C>T|p.Pro553Pro|1771/3933|1659/2055|553/684||,A|synonymous_variant|LOW|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|8/9|c.1659C>T|p.Pro553Pro|1753/4967|1659/2055|553/684||,A|synonymous_variant|LOW|FOXRED2|ENSG00000100350|transcript|ENST00000366463|protein_coding|3/4|c.315C>T|p.Pro105Pro|684/2489|315/711|105/236||,A|synonymous_variant|LOW|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|7/8|c.1659C>T|p.Pro553Pro|1767/2184|1659/2055|553/684|| 22 36892102 . AAAG A . . ANN=|disruptive_inframe_deletion|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|7/9|c.1533_1535delCTT|p.Phe512del|1647/3933|1533/2055|511/684||,|disruptive_inframe_deletion|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|7/9|c.1533_1535delCTT|p.Phe512del|1629/4967|1533/2055|511/684||,|disruptive_inframe_deletion|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000366463|protein_coding|2/4|c.189_191delCTT|p.Phe64del|560/2489|189/711|63/236||,|disruptive_inframe_deletion|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|6/8|c.1533_1535delCTT|p.Phe512del|1643/2184|1533/2055|511/684|| 22 36892103 . A C . . ANN=C|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|7/9|c.1535T>G|p.Phe512Cys|1647/3933|1535/2055|512/684||,C|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|7/9|c.1535T>G|p.Phe512Cys|1629/4967|1535/2055|512/684||,C|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000366463|protein_coding|2/4|c.191T>G|p.Phe64Cys|560/2489|191/711|64/236||,C|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|6/8|c.1535T>G|p.Phe512Cys|1643/2184|1535/2055|512/684|| 22 36892134 . T A . . ANN=A|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|7/9|c.1504A>T|p.Asn502Tyr|1616/3933|1504/2055|502/684||,A|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|7/9|c.1504A>T|p.Asn502Tyr|1598/4967|1504/2055|502/684||,A|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000366463|protein_coding|2/4|c.160A>T|p.Asn54Tyr|529/2489|160/711|54/236||,A|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|6/8|c.1504A>T|p.Asn502Tyr|1612/2184|1504/2055|502/684|| 22 36892168 . G A . . ANN=A|synonymous_variant|LOW|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|7/9|c.1470C>T|p.His490His|1582/3933|1470/2055|490/684||,A|synonymous_variant|LOW|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|7/9|c.1470C>T|p.His490His|1564/4967|1470/2055|490/684||,A|synonymous_variant|LOW|FOXRED2|ENSG00000100350|transcript|ENST00000366463|protein_coding|2/4|c.126C>T|p.His42His|495/2489|126/711|42/236||,A|synonymous_variant|LOW|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|6/8|c.1470C>T|p.His490His|1578/2184|1470/2055|490/684|| 22 36892240 . A C . . ANN=C|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|7/9|c.1398T>G|p.Phe466Leu|1510/3933|1398/2055|466/684||,C|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|7/9|c.1398T>G|p.Phe466Leu|1492/4967|1398/2055|466/684||,C|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000366463|protein_coding|2/4|c.54T>G|p.Phe18Leu|423/2489|54/711|18/236||,C|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|6/8|c.1398T>G|p.Phe466Leu|1506/2184|1398/2055|466/684|| 22 36892273 . C T . . ANN=T|intron_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|6/8|c.1383-18G>A||||||,T|intron_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|6/8|c.1383-18G>A||||||,T|intron_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000366463|protein_coding|1/3|c.39-18G>A||||||,T|intron_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|5/7|c.1383-18G>A|||||| 22 36892300 . A G . . ANN=G|intron_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|6/8|c.1383-45T>C||||||,G|intron_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|6/8|c.1383-45T>C||||||,G|intron_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000366463|protein_coding|1/3|c.39-45T>C||||||,G|intron_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|5/7|c.1383-45T>C|||||| 22 36893993 . G A . . ANN=A|intron_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|6/8|c.1382+45C>T||||||,A|intron_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|6/8|c.1382+45C>T||||||,A|intron_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000366463|protein_coding|1/3|c.38+45C>T||||||,A|intron_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|5/7|c.1382+45C>T|||||| 22 36894054 . C A . . ANN=A|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|6/9|c.1366G>T|p.Val456Phe|1478/3933|1366/2055|456/684||,A|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|6/9|c.1366G>T|p.Val456Phe|1460/4967|1366/2055|456/684||,A|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000366463|protein_coding|1/4|c.22G>T|p.Val8Phe|391/2489|22/711|8/236||,A|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|5/8|c.1366G>T|p.Val456Phe|1474/2184|1366/2055|456/684|| 22 36894133 . G C . . ANN=C|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|6/9|c.1287C>G|p.Ile429Met|1399/3933|1287/2055|429/684||,C|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|6/9|c.1287C>G|p.Ile429Met|1381/4967|1287/2055|429/684||,C|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|5/8|c.1287C>G|p.Ile429Met|1395/2184|1287/2055|429/684||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|FOXRED2|ENSG00000100350|transcript|ENST00000366463|protein_coding|1/4|c.-58C>G||||||,C|5_prime_UTR_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000366463|protein_coding|1/4|c.-58C>G|||||58| 22 36894162 . C T . . ANN=T|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|6/9|c.1258G>A|p.Val420Ile|1370/3933|1258/2055|420/684||,T|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|6/9|c.1258G>A|p.Val420Ile|1352/4967|1258/2055|420/684||,T|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|5/8|c.1258G>A|p.Val420Ile|1366/2184|1258/2055|420/684||,T|5_prime_UTR_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000366463|protein_coding|1/4|c.-87G>A|||||87| 22 36894232 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000366463|protein_coding|1/4|c.-157C>T|||||157|,A|intron_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|5/8|c.1217-29C>T||||||,A|intron_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|5/8|c.1217-29C>T||||||,A|intron_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|4/7|c.1217-29C>T|||||| 22 36894235 . G T . . ANN=T|5_prime_UTR_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000366463|protein_coding|1/4|c.-160C>A|||||160|,T|intron_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|5/8|c.1217-32C>A||||||,T|intron_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|5/8|c.1217-32C>A||||||,T|intron_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|4/7|c.1217-32C>A|||||| 22 36894236 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000366463|protein_coding|1/4|c.-161G>A|||||161|,T|intron_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|5/8|c.1217-33G>A||||||,T|intron_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|5/8|c.1217-33G>A||||||,T|intron_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|4/7|c.1217-33G>A|||||| 22 36897261 . C G . . ANN=G|upstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000366463|protein_coding||c.-370G>C|||||2817|,G|downstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000423980|protein_coding||c.*567G>C|||||4950|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|5/8|c.1216+27G>C||||||,G|intron_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|5/8|c.1216+27G>C||||||,G|intron_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|4/7|c.1216+27G>C|||||| 22 36897304 . G A . . ANN=A|synonymous_variant|LOW|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|5/9|c.1200C>T|p.His400His|1312/3933|1200/2055|400/684||,A|synonymous_variant|LOW|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|5/9|c.1200C>T|p.His400His|1294/4967|1200/2055|400/684||,A|synonymous_variant|LOW|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|4/8|c.1200C>T|p.His400His|1308/2184|1200/2055|400/684||,A|upstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000366463|protein_coding||c.-370C>T|||||2860|,A|downstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000423980|protein_coding||c.*567C>T|||||4907|WARNING_TRANSCRIPT_INCOMPLETE 22 36897341 . G A . . ANN=A|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|5/9|c.1163C>T|p.Ser388Leu|1275/3933|1163/2055|388/684||,A|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|5/9|c.1163C>T|p.Ser388Leu|1257/4967|1163/2055|388/684||,A|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|4/8|c.1163C>T|p.Ser388Leu|1271/2184|1163/2055|388/684||,A|upstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000366463|protein_coding||c.-370C>T|||||2897|,A|downstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000423980|protein_coding||c.*567C>T|||||4870|WARNING_TRANSCRIPT_INCOMPLETE 22 36897383 . T C . . ANN=C|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|5/9|c.1121A>G|p.Lys374Arg|1233/3933|1121/2055|374/684||,C|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|5/9|c.1121A>G|p.Lys374Arg|1215/4967|1121/2055|374/684||,C|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|4/8|c.1121A>G|p.Lys374Arg|1229/2184|1121/2055|374/684||,C|upstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000366463|protein_coding||c.-370A>G|||||2939|,C|downstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000423980|protein_coding||c.*567A>G|||||4828|WARNING_TRANSCRIPT_INCOMPLETE 22 36897410 . G A . . ANN=A|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|5/9|c.1094C>T|p.Pro365Leu|1206/3933|1094/2055|365/684||,A|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|5/9|c.1094C>T|p.Pro365Leu|1188/4967|1094/2055|365/684||,A|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|4/8|c.1094C>T|p.Pro365Leu|1202/2184|1094/2055|365/684||,A|upstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000366463|protein_coding||c.-370C>T|||||2966|,A|downstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000423980|protein_coding||c.*567C>T|||||4801|WARNING_TRANSCRIPT_INCOMPLETE 22 36897427 . T C . . ANN=C|synonymous_variant|LOW|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|5/9|c.1077A>G|p.Ala359Ala|1189/3933|1077/2055|359/684||,C|synonymous_variant|LOW|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|5/9|c.1077A>G|p.Ala359Ala|1171/4967|1077/2055|359/684||,C|synonymous_variant|LOW|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|4/8|c.1077A>G|p.Ala359Ala|1185/2184|1077/2055|359/684||,C|upstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000366463|protein_coding||c.-370A>G|||||2983|,C|downstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000423980|protein_coding||c.*567A>G|||||4784|WARNING_TRANSCRIPT_INCOMPLETE 22 36900186 . G C . . ANN=C|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|4/9|c.1008C>G|p.Ile336Met|1120/3933|1008/2055|336/684||,C|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|4/9|c.1008C>G|p.Ile336Met|1102/4967|1008/2055|336/684||,C|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|3/8|c.1008C>G|p.Ile336Met|1116/2184|1008/2055|336/684||,C|downstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000423980|protein_coding||c.*567C>G|||||2025|WARNING_TRANSCRIPT_INCOMPLETE 22 36900271 . T C . . ANN=C|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|4/9|c.923A>G|p.Asn308Ser|1035/3933|923/2055|308/684||,C|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|4/9|c.923A>G|p.Asn308Ser|1017/4967|923/2055|308/684||,C|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|3/8|c.923A>G|p.Asn308Ser|1031/2184|923/2055|308/684||,C|downstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000423980|protein_coding||c.*567A>G|||||1940|WARNING_TRANSCRIPT_INCOMPLETE 22 36900342 . C T . . ANN=T|synonymous_variant|LOW|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|4/9|c.852G>A|p.Thr284Thr|964/3933|852/2055|284/684||,T|synonymous_variant|LOW|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|4/9|c.852G>A|p.Thr284Thr|946/4967|852/2055|284/684||,T|synonymous_variant|LOW|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|3/8|c.852G>A|p.Thr284Thr|960/2184|852/2055|284/684||,T|downstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000423980|protein_coding||c.*567G>A|||||1869|WARNING_TRANSCRIPT_INCOMPLETE 22 36900429 . A G . . ANN=G|downstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000423980|protein_coding||c.*567T>C|||||1782|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|3/8|c.780-15T>C||||||,G|intron_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|3/8|c.780-15T>C||||||,G|intron_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|2/7|c.780-15T>C|||||| 22 36900550 . G A . . ANN=A|downstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000423980|protein_coding||c.*567C>T|||||1661|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|3/8|c.779+12C>T||||||,A|intron_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|3/8|c.779+12C>T||||||,A|intron_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|2/7|c.779+12C>T|||||| 22 36900555 . G C . . ANN=C|splice_region_variant&intron_variant|LOW|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|3/8|c.779+7C>G||||||,C|splice_region_variant&intron_variant|LOW|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|3/8|c.779+7C>G||||||,C|splice_region_variant&intron_variant|LOW|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|2/7|c.779+7C>G||||||,C|downstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000423980|protein_coding||c.*567C>G|||||1656|WARNING_TRANSCRIPT_INCOMPLETE 22 36900679 . C T . . ANN=T|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|3/9|c.662G>A|p.Arg221His|774/3933|662/2055|221/684||,T|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|3/9|c.662G>A|p.Arg221His|756/4967|662/2055|221/684||,T|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|2/8|c.662G>A|p.Arg221His|770/2184|662/2055|221/684||,T|downstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000423980|protein_coding||c.*567G>A|||||1532|WARNING_TRANSCRIPT_INCOMPLETE 22 36900695 . C T . . ANN=T|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|3/9|c.646G>A|p.Val216Met|758/3933|646/2055|216/684||,T|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|3/9|c.646G>A|p.Val216Met|740/4967|646/2055|216/684||,T|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|2/8|c.646G>A|p.Val216Met|754/2184|646/2055|216/684||,T|downstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000423980|protein_coding||c.*567G>A|||||1516|WARNING_TRANSCRIPT_INCOMPLETE 22 36900732 . G A . . ANN=A|synonymous_variant|LOW|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|3/9|c.609C>T|p.Ser203Ser|721/3933|609/2055|203/684||,A|synonymous_variant|LOW|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|3/9|c.609C>T|p.Ser203Ser|703/4967|609/2055|203/684||,A|synonymous_variant|LOW|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|2/8|c.609C>T|p.Ser203Ser|717/2184|609/2055|203/684||,A|downstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000423980|protein_coding||c.*567C>T|||||1479|WARNING_TRANSCRIPT_INCOMPLETE 22 36900774 . C A . . ANN=A|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|3/9|c.567G>T|p.Gln189His|679/3933|567/2055|189/684||,A|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|3/9|c.567G>T|p.Gln189His|661/4967|567/2055|189/684||,A|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|2/8|c.567G>T|p.Gln189His|675/2184|567/2055|189/684||,A|downstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000423980|protein_coding||c.*567G>T|||||1437|WARNING_TRANSCRIPT_INCOMPLETE 22 36900806 . A G . . ANN=G|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|3/9|c.535T>C|p.Phe179Leu|647/3933|535/2055|179/684||,G|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|3/9|c.535T>C|p.Phe179Leu|629/4967|535/2055|179/684||,G|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|2/8|c.535T>C|p.Phe179Leu|643/2184|535/2055|179/684||,G|downstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000423980|protein_coding||c.*567T>C|||||1405|WARNING_TRANSCRIPT_INCOMPLETE 22 36900812 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|3/9|c.529G>A|p.Val177Ile|641/3933|529/2055|177/684||,T|missense_variant&splice_region_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|3/9|c.529G>A|p.Val177Ile|623/4967|529/2055|177/684||,T|missense_variant&splice_region_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|2/8|c.529G>A|p.Val177Ile|637/2184|529/2055|177/684||,T|downstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000423980|protein_coding||c.*567G>A|||||1399|WARNING_TRANSCRIPT_INCOMPLETE 22 36901985 . T C . . ANN=C|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|2/9|c.485A>G|p.Tyr162Cys|597/3933|485/2055|162/684||,C|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|2/9|c.485A>G|p.Tyr162Cys|579/4967|485/2055|162/684||,C|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|1/8|c.485A>G|p.Tyr162Cys|593/2184|485/2055|162/684||,C|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000216190|protein_coding||c.*2018A>G|||||4912|,C|downstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000423980|protein_coding||c.*567A>G|||||226|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000478547|processed_transcript||n.*452A>G|||||4918|,C|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000541106|protein_coding||c.*1601A>G|||||4919|,C|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000462641|retained_intron||n.*887A>G|||||4930|,C|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000405442|protein_coding||c.*1763A>G|||||4961| 22 36902031 . C G . . ANN=G|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|2/9|c.439G>C|p.Ala147Pro|551/3933|439/2055|147/684||,G|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|2/9|c.439G>C|p.Ala147Pro|533/4967|439/2055|147/684||,G|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|1/8|c.439G>C|p.Ala147Pro|547/2184|439/2055|147/684||,G|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000216190|protein_coding||c.*2018G>C|||||4866|,G|downstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000423980|protein_coding||c.*567G>C|||||180|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000478547|processed_transcript||n.*452G>C|||||4872|,G|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000541106|protein_coding||c.*1601G>C|||||4873|,G|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000462641|retained_intron||n.*887G>C|||||4884|,G|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000405442|protein_coding||c.*1763G>C|||||4915| 22 36902101 . G A . . ANN=A|synonymous_variant|LOW|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|2/9|c.369C>T|p.Arg123Arg|481/3933|369/2055|123/684||,A|synonymous_variant|LOW|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|2/9|c.369C>T|p.Arg123Arg|463/4967|369/2055|123/684||,A|synonymous_variant|LOW|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|1/8|c.369C>T|p.Arg123Arg|477/2184|369/2055|123/684||,A|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000216190|protein_coding||c.*2018C>T|||||4796|,A|downstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000423980|protein_coding||c.*567C>T|||||110|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000478547|processed_transcript||n.*452C>T|||||4802|,A|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000541106|protein_coding||c.*1601C>T|||||4803|,A|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000462641|retained_intron||n.*887C>T|||||4814|,A|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000405442|protein_coding||c.*1763C>T|||||4845| 22 36902161 . G A . . ANN=A|synonymous_variant|LOW|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|2/9|c.309C>T|p.Leu103Leu|421/3933|309/2055|103/684||,A|synonymous_variant|LOW|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|2/9|c.309C>T|p.Leu103Leu|403/4967|309/2055|103/684||,A|synonymous_variant|LOW|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|1/8|c.309C>T|p.Leu103Leu|417/2184|309/2055|103/684||,A|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000216190|protein_coding||c.*2018C>T|||||4736|,A|downstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000423980|protein_coding||c.*567C>T|||||50|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000478547|processed_transcript||n.*452C>T|||||4742|,A|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000541106|protein_coding||c.*1601C>T|||||4743|,A|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000462641|retained_intron||n.*887C>T|||||4754|,A|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000405442|protein_coding||c.*1763C>T|||||4785| 22 36902259 . G A . . ANN=A|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|2/9|c.211C>T|p.Arg71Cys|323/3933|211/2055|71/684||,A|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|2/9|c.211C>T|p.Arg71Cys|305/4967|211/2055|71/684||,A|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|1/8|c.211C>T|p.Arg71Cys|319/2184|211/2055|71/684||,A|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000423980|protein_coding|2/2|c.211C>T|p.Arg71Cys|519/567|211/259|71/85||WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000216190|protein_coding||c.*2018C>T|||||4638|,A|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000478547|processed_transcript||n.*452C>T|||||4644|,A|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000541106|protein_coding||c.*1601C>T|||||4645|,A|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000462641|retained_intron||n.*887C>T|||||4656|,A|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000405442|protein_coding||c.*1763C>T|||||4687| 22 36907001 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000216190|protein_coding|15/15|c.*33A>G|||||33|,C|3_prime_UTR_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000541106|protein_coding|14/14|c.*33A>G|||||33|,C|3_prime_UTR_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000405442|protein_coding|15/15|c.*33A>G|||||33|,C|upstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding||c.-113A>G|||||3932|,C|upstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding||c.-95A>G|||||3853|,C|upstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding||c.-109A>G|||||4424|,C|upstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000423980|protein_coding||c.-309A>G|||||3911|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000426531|retained_intron||n.*710A>G|||||623|,C|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000458572|nonsense_mediated_decay||n.*316A>G|||||747|,C|non_coding_exon_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000478547|processed_transcript|2/2|n.354A>G||||||,C|non_coding_exon_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000462641|retained_intron|3/3|n.801A>G|||||| 22 36907031 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000216190|protein_coding|15/15|c.*3C>T|||||3|,A|3_prime_UTR_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000541106|protein_coding|14/14|c.*3C>T|||||3|,A|3_prime_UTR_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000405442|protein_coding|15/15|c.*3C>T|||||3|,A|upstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding||c.-113C>T|||||3962|,A|upstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding||c.-95C>T|||||3883|,A|upstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding||c.-109C>T|||||4454|,A|upstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000423980|protein_coding||c.-309C>T|||||3941|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000426531|retained_intron||n.*710C>T|||||593|,A|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000458572|nonsense_mediated_decay||n.*316C>T|||||717|,A|non_coding_exon_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000478547|processed_transcript|2/2|n.324C>T||||||,A|non_coding_exon_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000462641|retained_intron|3/3|n.771C>T|||||| 22 36907095 . T G . . ANN=G|sequence_feature|LOW|EIF3D|ENSG00000100353|compositionally_biased_region:Asp/Glu-rich__highly_acidic_|ENST00000541106|protein_coding|13/14|c.1487-48A>C||||||,G|sequence_feature|LOW|EIF3D|ENSG00000100353|compositionally_biased_region:Asp/Glu-rich__highly_acidic_|ENST00000541106|protein_coding|14/14|c.1487-48A>C||||||,G|sequence_feature|LOW|EIF3D|ENSG00000100353|compositionally_biased_region:Asp/Glu-rich__highly_acidic_|ENST00000405442|protein_coding|14/15|c.1634-48A>C||||||,G|sequence_feature|LOW|EIF3D|ENSG00000100353|compositionally_biased_region:Asp/Glu-rich__highly_acidic_|ENST00000405442|protein_coding|15/15|c.1634-48A>C||||||,G|upstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding||c.-113A>C|||||4026|,G|upstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding||c.-95A>C|||||3947|,G|upstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding||c.-109A>C|||||4518|,G|upstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000423980|protein_coding||c.-309A>C|||||4005|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000426531|retained_intron||n.*710A>C|||||529|,G|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000458572|nonsense_mediated_decay||n.*316A>C|||||653|,G|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000216190|protein_coding|14/14|c.1634-48A>C||||||,G|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000541106|protein_coding|13/13|c.1487-48A>C||||||,G|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000462641|retained_intron|2/2|n.755-48A>C||||||,G|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000405442|protein_coding|14/14|c.1634-48A>C||||||,G|non_coding_exon_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000478547|processed_transcript|2/2|n.260A>C|||||| 22 36907665 . G A . . ANN=A|synonymous_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000216190|protein_coding|14/15|c.1518C>T|p.Tyr506Tyr|1889/2155|1518/1647|506/548||,A|synonymous_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000541106|protein_coding|13/14|c.1371C>T|p.Tyr457Tyr|1472/1731|1371/1500|457/499||,A|synonymous_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000405442|protein_coding|14/15|c.1518C>T|p.Tyr506Tyr|1634/1851|1518/1647|506/548||,A|upstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding||c.-113C>T|||||4596|,A|upstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding||c.-95C>T|||||4517|,A|upstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000423980|protein_coding||c.-309C>T|||||4575|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000458572|nonsense_mediated_decay||n.*316C>T|||||83|,A|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000462794|retained_intron||n.*764C>T|||||4445|,A|non_coding_exon_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000478547|processed_transcript|1/2|n.24C>T||||||,A|non_coding_exon_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000462641|retained_intron|2/3|n.639C>T||||||,A|non_coding_exon_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000426531|retained_intron|4/4|n.669C>T|||||| 22 36907716 . G T . . ANN=T|synonymous_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000216190|protein_coding|14/15|c.1467C>A|p.Gly489Gly|1838/2155|1467/1647|489/548||,T|synonymous_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000541106|protein_coding|13/14|c.1320C>A|p.Gly440Gly|1421/1731|1320/1500|440/499||,T|synonymous_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000405442|protein_coding|14/15|c.1467C>A|p.Gly489Gly|1583/1851|1467/1647|489/548||,T|upstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding||c.-113C>A|||||4647|,T|upstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding||c.-95C>A|||||4568|,T|upstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000423980|protein_coding||c.-309C>A|||||4626|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000478547|processed_transcript||n.-1C>A|||||28|,T|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000458572|nonsense_mediated_decay||n.*316C>A|||||32|,T|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000462794|retained_intron||n.*764C>A|||||4394|,T|non_coding_exon_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000462641|retained_intron|2/3|n.588C>A||||||,T|non_coding_exon_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000426531|retained_intron|4/4|n.618C>A|||||| 22 36907872 . GCA G . . ANN=|upstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding||c.-113_-113delTG|||||4804|,|upstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding||c.-95_-95delTG|||||4725|,|upstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000423980|protein_coding||c.-309_-309delTG|||||4783|WARNING_TRANSCRIPT_INCOMPLETE,|upstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000478547|processed_transcript||n.-1_-1delTG|||||185|,|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000462794|retained_intron||n.*764_*764delTG|||||4237|,|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000216190|protein_coding|13/14|c.1350-41_1350-40delTG||||||,|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000541106|protein_coding|12/13|c.1203-41_1203-40delTG||||||,|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000462641|retained_intron|1/2|n.471-41_471-40delTG||||||,|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000405442|protein_coding|13/14|c.1350-41_1350-40delTG||||||,|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000426531|retained_intron|3/3|n.501-41_501-40delTG||||||,|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000458572|nonsense_mediated_decay|6/6|n.*482-41_*482-40delTG|||||| 22 36908479 . G A . . ANN=A|upstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000478547|processed_transcript||n.-1C>T|||||791|,A|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000462794|retained_intron||n.*764C>T|||||3631|,A|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000216190|protein_coding|13/14|c.1349+28C>T||||||,A|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000541106|protein_coding|12/13|c.1202+28C>T||||||,A|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000462641|retained_intron|1/2|n.470+28C>T||||||,A|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000405442|protein_coding|13/14|c.1349+28C>T||||||,A|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000426531|retained_intron|3/3|n.500+28C>T||||||,A|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000458572|nonsense_mediated_decay|6/6|n.*481+28C>T|||||| 22 36908587 . C T . . ANN=T|synonymous_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000216190|protein_coding|13/15|c.1269G>A|p.Thr423Thr|1640/2155|1269/1647|423/548||,T|synonymous_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000541106|protein_coding|12/14|c.1122G>A|p.Thr374Thr|1223/1731|1122/1500|374/499||,T|synonymous_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000405442|protein_coding|13/15|c.1269G>A|p.Thr423Thr|1385/1851|1269/1647|423/548||,T|3_prime_UTR_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000458572|nonsense_mediated_decay|6/7|n.*401G>A|||||4883|,T|upstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000478547|processed_transcript||n.-1G>A|||||899|,T|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000462794|retained_intron||n.*764G>A|||||3523|,T|non_coding_exon_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000462641|retained_intron|1/3|n.390G>A||||||,T|non_coding_exon_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000426531|retained_intron|3/4|n.420G>A||||||,T|non_coding_exon_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000458572|nonsense_mediated_decay|6/7|n.*401G>A|||||| 22 36908658 . G A . . ANN=A|upstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000478547|processed_transcript||n.-1C>T|||||970|,A|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000462794|retained_intron||n.*764C>T|||||3452|,A|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000216190|protein_coding|12/14|c.1207-9C>T||||||,A|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000541106|protein_coding|11/13|c.1060-9C>T||||||,A|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000405442|protein_coding|12/14|c.1207-9C>T||||||,A|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000426531|retained_intron|2/3|n.358-9C>T||||||,A|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000458572|nonsense_mediated_decay|5/6|n.*339-9C>T||||||,A|non_coding_exon_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000462641|retained_intron|1/3|n.319C>T|||||| 22 36908665 . G A . . ANN=A|upstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000478547|processed_transcript||n.-1C>T|||||977|,A|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000462794|retained_intron||n.*764C>T|||||3445|,A|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000216190|protein_coding|12/14|c.1207-16C>T||||||,A|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000541106|protein_coding|11/13|c.1060-16C>T||||||,A|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000405442|protein_coding|12/14|c.1207-16C>T||||||,A|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000426531|retained_intron|2/3|n.358-16C>T||||||,A|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000458572|nonsense_mediated_decay|5/6|n.*339-16C>T||||||,A|non_coding_exon_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000462641|retained_intron|1/3|n.312C>T|||||| 22 36908667 . T C . . ANN=C|upstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000478547|processed_transcript||n.-1A>G|||||979|,C|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000462794|retained_intron||n.*764A>G|||||3443|,C|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000216190|protein_coding|12/14|c.1207-18A>G||||||,C|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000541106|protein_coding|11/13|c.1060-18A>G||||||,C|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000405442|protein_coding|12/14|c.1207-18A>G||||||,C|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000426531|retained_intron|2/3|n.358-18A>G||||||,C|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000458572|nonsense_mediated_decay|5/6|n.*339-18A>G||||||,C|non_coding_exon_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000462641|retained_intron|1/3|n.310A>G|||||| 22 36912623 . C G . . ANN=G|missense_variant|MODERATE|EIF3D|ENSG00000100353|transcript|ENST00000216190|protein_coding|12/15|c.1108G>C|p.Asp370His|1479/2155|1108/1647|370/548||,G|missense_variant|MODERATE|EIF3D|ENSG00000100353|transcript|ENST00000541106|protein_coding|11/14|c.961G>C|p.Asp321His|1062/1731|961/1500|321/499||,G|missense_variant|MODERATE|EIF3D|ENSG00000100353|transcript|ENST00000405442|protein_coding|12/15|c.1108G>C|p.Asp370His|1224/1851|1108/1647|370/548||,G|3_prime_UTR_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000458572|nonsense_mediated_decay|5/7|n.*240G>C|||||847|,G|upstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000478547|processed_transcript||n.-1G>C|||||4935|,G|upstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000462641|retained_intron||n.-1G>C|||||3647|,G|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000455547|protein_coding||c.*996G>C|||||2237|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000457241|protein_coding||c.*729G>C|||||4057|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000426531|retained_intron|2/4|n.259G>C||||||,G|non_coding_exon_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000458572|nonsense_mediated_decay|5/7|n.*240G>C||||||,G|non_coding_exon_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000462794|retained_intron|2/2|n.251G>C|||||| 22 36912630 . A G . . ANN=G|synonymous_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000216190|protein_coding|12/15|c.1101T>C|p.Asp367Asp|1472/2155|1101/1647|367/548||,G|synonymous_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000541106|protein_coding|11/14|c.954T>C|p.Asp318Asp|1055/1731|954/1500|318/499||,G|synonymous_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000405442|protein_coding|12/15|c.1101T>C|p.Asp367Asp|1217/1851|1101/1647|367/548||,G|3_prime_UTR_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000458572|nonsense_mediated_decay|5/7|n.*233T>C|||||840|,G|upstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000478547|processed_transcript||n.-1T>C|||||4942|,G|upstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000462641|retained_intron||n.-1T>C|||||3654|,G|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000455547|protein_coding||c.*996T>C|||||2230|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000457241|protein_coding||c.*729T>C|||||4050|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000426531|retained_intron|2/4|n.252T>C||||||,G|non_coding_exon_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000458572|nonsense_mediated_decay|5/7|n.*233T>C||||||,G|non_coding_exon_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000462794|retained_intron|2/2|n.244T>C|||||| 22 36912724 . C T . . ANN=T|upstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000462641|retained_intron||n.-1G>A|||||3748|,T|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000455547|protein_coding||c.*996G>A|||||2136|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000457241|protein_coding||c.*729G>A|||||3956|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000216190|protein_coding|11/14|c.1076+28G>A||||||,T|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000541106|protein_coding|10/13|c.929+28G>A||||||,T|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000405442|protein_coding|11/14|c.1076+28G>A||||||,T|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000426531|retained_intron|1/3|n.227+28G>A||||||,T|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000458572|nonsense_mediated_decay|4/6|n.*208+28G>A||||||,T|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000462794|retained_intron|1/1|n.219+28G>A|||||| 22 36912769 . G T . . ANN=T|synonymous_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000216190|protein_coding|11/15|c.1059C>A|p.Ile353Ile|1430/2155|1059/1647|353/548||,T|synonymous_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000541106|protein_coding|10/14|c.912C>A|p.Ile304Ile|1013/1731|912/1500|304/499||,T|synonymous_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000405442|protein_coding|11/15|c.1059C>A|p.Ile353Ile|1175/1851|1059/1647|353/548||,T|3_prime_UTR_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000458572|nonsense_mediated_decay|4/7|n.*191C>A|||||701|,T|upstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000462641|retained_intron||n.-1C>A|||||3793|,T|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000455547|protein_coding||c.*996C>A|||||2091|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000457241|protein_coding||c.*729C>A|||||3911|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000426531|retained_intron|1/4|n.210C>A||||||,T|non_coding_exon_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000458572|nonsense_mediated_decay|4/7|n.*191C>A||||||,T|non_coding_exon_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000462794|retained_intron|1/2|n.202C>A|||||| 22 36913495 . T C . . ANN=C|upstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000462641|retained_intron||n.-1A>G|||||4519|,C|upstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000426531|retained_intron||n.-1A>G|||||517|,C|upstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000462794|retained_intron||n.-1A>G|||||525|,C|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000455547|protein_coding||c.*996A>G|||||1365|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000457241|protein_coding||c.*729A>G|||||3185|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000216190|protein_coding|9/14|c.860-17A>G||||||,C|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000541106|protein_coding|8/13|c.713-17A>G||||||,C|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000405442|protein_coding|9/14|c.860-17A>G||||||,C|non_coding_exon_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000458572|nonsense_mediated_decay|3/7|n.290A>G|||||| 22 36913505 . C G . . ANN=G|upstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000462641|retained_intron||n.-1G>C|||||4529|,G|upstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000426531|retained_intron||n.-1G>C|||||527|,G|upstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000462794|retained_intron||n.-1G>C|||||535|,G|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000455547|protein_coding||c.*996G>C|||||1355|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000457241|protein_coding||c.*729G>C|||||3175|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000216190|protein_coding|9/14|c.860-27G>C||||||,G|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000541106|protein_coding|8/13|c.713-27G>C||||||,G|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000405442|protein_coding|9/14|c.860-27G>C||||||,G|non_coding_exon_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000458572|nonsense_mediated_decay|3/7|n.280G>C|||||| 22 36914967 . G A . . ANN=A|upstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000426531|retained_intron||n.-1C>T|||||1989|,A|upstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000462794|retained_intron||n.-1C>T|||||1997|,A|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000457241|protein_coding||c.*729C>T|||||1713|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000432675|protein_coding||c.*678C>T|||||4195|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000402116|protein_coding||c.*581C>T|||||4996|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000216190|protein_coding|8/14|c.712-10C>T||||||,A|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000541106|protein_coding|7/13|c.565-10C>T||||||,A|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000405442|protein_coding|8/14|c.712-10C>T||||||,A|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000458572|nonsense_mediated_decay|1/6|n.97-10C>T||||||,A|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000455547|protein_coding|9/9|c.712-10C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 36914990 . G C . . ANN=C|upstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000426531|retained_intron||n.-1C>G|||||2012|,C|upstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000462794|retained_intron||n.-1C>G|||||2020|,C|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000457241|protein_coding||c.*729C>G|||||1690|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000432675|protein_coding||c.*678C>G|||||4172|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000402116|protein_coding||c.*581C>G|||||4973|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000216190|protein_coding|8/14|c.712-33C>G||||||,C|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000541106|protein_coding|7/13|c.565-33C>G||||||,C|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000405442|protein_coding|8/14|c.712-33C>G||||||,C|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000458572|nonsense_mediated_decay|1/6|n.97-33C>G||||||,C|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000455547|protein_coding|9/9|c.712-33C>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 36915445 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000216190|protein_coding|8/14|c.711+7G>A||||||,T|splice_region_variant&intron_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000541106|protein_coding|7/13|c.564+7G>A||||||,T|splice_region_variant&intron_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000405442|protein_coding|8/14|c.711+7G>A||||||,T|splice_region_variant&intron_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000458572|nonsense_mediated_decay|1/6|n.96+7G>A||||||,T|splice_region_variant&intron_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000455547|protein_coding|9/9|c.711+7G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000426531|retained_intron||n.-1G>A|||||2467|,T|upstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000462794|retained_intron||n.-1G>A|||||2475|,T|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000457241|protein_coding||c.*729G>A|||||1235|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000432675|protein_coding||c.*678G>A|||||3717|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000402116|protein_coding||c.*581G>A|||||4518|WARNING_TRANSCRIPT_INCOMPLETE 22 36915464 . A G . . ANN=G|synonymous_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000216190|protein_coding|8/15|c.699T>C|p.Pro233Pro|1070/2155|699/1647|233/548||,G|synonymous_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000541106|protein_coding|7/14|c.552T>C|p.Pro184Pro|653/1731|552/1500|184/499||,G|synonymous_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000405442|protein_coding|8/15|c.699T>C|p.Pro233Pro|815/1851|699/1647|233/548||,G|synonymous_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000455547|protein_coding|9/10|c.699T>C|p.Pro233Pro|886/996|699/809|233/268||WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000426531|retained_intron||n.-1T>C|||||2486|,G|upstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000462794|retained_intron||n.-1T>C|||||2494|,G|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000457241|protein_coding||c.*729T>C|||||1216|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000432675|protein_coding||c.*678T>C|||||3698|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000402116|protein_coding||c.*581T>C|||||4499|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000458572|nonsense_mediated_decay|1/7|n.84T>C|||||| 22 36915503 . G C . . ANN=C|missense_variant|MODERATE|EIF3D|ENSG00000100353|transcript|ENST00000216190|protein_coding|8/15|c.660C>G|p.Ile220Met|1031/2155|660/1647|220/548||,C|missense_variant|MODERATE|EIF3D|ENSG00000100353|transcript|ENST00000541106|protein_coding|7/14|c.513C>G|p.Ile171Met|614/1731|513/1500|171/499||,C|missense_variant|MODERATE|EIF3D|ENSG00000100353|transcript|ENST00000405442|protein_coding|8/15|c.660C>G|p.Ile220Met|776/1851|660/1647|220/548||,C|missense_variant|MODERATE|EIF3D|ENSG00000100353|transcript|ENST00000455547|protein_coding|9/10|c.660C>G|p.Ile220Met|847/996|660/809|220/268||WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000426531|retained_intron||n.-1C>G|||||2525|,C|upstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000462794|retained_intron||n.-1C>G|||||2533|,C|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000457241|protein_coding||c.*729C>G|||||1177|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000432675|protein_coding||c.*678C>G|||||3659|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000402116|protein_coding||c.*581C>G|||||4460|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000458572|nonsense_mediated_decay|1/7|n.45C>G|||||| 22 36916648 . A C . . ANN=C|missense_variant|MODERATE|EIF3D|ENSG00000100353|transcript|ENST00000216190|protein_coding|7/15|c.553T>G|p.Leu185Val|924/2155|553/1647|185/548||,C|missense_variant|MODERATE|EIF3D|ENSG00000100353|transcript|ENST00000541106|protein_coding|6/14|c.406T>G|p.Leu136Val|507/1731|406/1500|136/499||,C|missense_variant|MODERATE|EIF3D|ENSG00000100353|transcript|ENST00000405442|protein_coding|7/15|c.553T>G|p.Leu185Val|669/1851|553/1647|185/548||,C|missense_variant|MODERATE|EIF3D|ENSG00000100353|transcript|ENST00000455547|protein_coding|8/10|c.553T>G|p.Leu185Val|740/996|553/809|185/268||WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000426531|retained_intron||n.-1T>G|||||3670|,C|upstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000458572|nonsense_mediated_decay||n.-2T>G|||||1100|,C|upstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000462794|retained_intron||n.-1T>G|||||3678|,C|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000457241|protein_coding||c.*729T>G|||||32|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000432675|protein_coding||c.*678T>G|||||2514|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000402116|protein_coding||c.*581T>G|||||3315|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000496875|retained_intron||n.*604T>G|||||4094| 22 36916753 . T C . . ANN=C|upstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000426531|retained_intron||n.-1A>G|||||3775|,C|upstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000458572|nonsense_mediated_decay||n.-2A>G|||||1205|,C|upstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000462794|retained_intron||n.-1A>G|||||3783|,C|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000432675|protein_coding||c.*678A>G|||||2409|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000402116|protein_coding||c.*581A>G|||||3210|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000496875|retained_intron||n.*604A>G|||||3989|,C|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000216190|protein_coding|6/14|c.466-18A>G||||||,C|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000541106|protein_coding|5/13|c.319-18A>G||||||,C|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000405442|protein_coding|6/14|c.466-18A>G||||||,C|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000455547|protein_coding|7/9|c.466-18A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000457241|protein_coding|6/6|c.466-18A>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 36919242 . T A . . ANN=A|missense_variant|MODERATE|EIF3D|ENSG00000100353|transcript|ENST00000432675|protein_coding|6/6|c.479A>T|p.Tyr160Phe|598/678|479/559|160/185||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000458572|nonsense_mediated_decay||n.-2A>T|||||3694|,A|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000402116|protein_coding||c.*581A>T|||||721|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000496875|retained_intron||n.*604A>T|||||1500|,A|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000216190|protein_coding|6/14|c.465+14A>T||||||,A|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000541106|protein_coding|5/13|c.318+14A>T||||||,A|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000405442|protein_coding|6/14|c.465+14A>T||||||,A|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000455547|protein_coding|7/9|c.465+14A>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000457241|protein_coding|6/6|c.465+14A>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 36919343 . A G . . ANN=G|upstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000458572|nonsense_mediated_decay||n.-2T>C|||||3795|,G|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000402116|protein_coding||c.*581T>C|||||620|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000496875|retained_intron||n.*604T>C|||||1399|,G|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000216190|protein_coding|5/14|c.393-15T>C||||||,G|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000541106|protein_coding|4/13|c.246-15T>C||||||,G|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000405442|protein_coding|5/14|c.393-15T>C||||||,G|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000455547|protein_coding|6/9|c.393-15T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000457241|protein_coding|5/6|c.393-15T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000432675|protein_coding|5/5|c.393-15T>C||||||WARNING_TRANSCRIPT_INCOMPLETE 22 36919358 . A G . . ANN=G|upstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000458572|nonsense_mediated_decay||n.-2T>C|||||3810|,G|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000402116|protein_coding||c.*581T>C|||||605|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000496875|retained_intron||n.*604T>C|||||1384|,G|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000216190|protein_coding|5/14|c.393-30T>C||||||,G|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000541106|protein_coding|4/13|c.246-30T>C||||||,G|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000405442|protein_coding|5/14|c.393-30T>C||||||,G|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000455547|protein_coding|6/9|c.393-30T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000457241|protein_coding|5/6|c.393-30T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000432675|protein_coding|5/5|c.393-30T>C||||||WARNING_TRANSCRIPT_INCOMPLETE 22 36919375 . G C . . ANN=C|upstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000458572|nonsense_mediated_decay||n.-2C>G|||||3827|,C|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000402116|protein_coding||c.*581C>G|||||588|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000496875|retained_intron||n.*604C>G|||||1367|,C|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000216190|protein_coding|5/14|c.393-47C>G||||||,C|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000541106|protein_coding|4/13|c.246-47C>G||||||,C|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000405442|protein_coding|5/14|c.393-47C>G||||||,C|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000455547|protein_coding|6/9|c.393-47C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000457241|protein_coding|5/6|c.393-47C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000432675|protein_coding|5/5|c.393-47C>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 36919928 . G A . . ANN=A|upstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000458572|nonsense_mediated_decay||n.-2C>T|||||4380|,A|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000402116|protein_coding||c.*581C>T|||||35|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000496875|retained_intron||n.*604C>T|||||814|,A|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000216190|protein_coding|5/14|c.392+14C>T||||||,A|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000541106|protein_coding|4/13|c.245+14C>T||||||,A|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000405442|protein_coding|5/14|c.392+14C>T||||||,A|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000455547|protein_coding|6/9|c.392+14C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000457241|protein_coding|5/6|c.392+14C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000432675|protein_coding|5/5|c.392+14C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 36920062 . T C . . ANN=C|upstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000458572|nonsense_mediated_decay||n.-2A>G|||||4514|,C|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000496875|retained_intron||n.*604A>G|||||680|,C|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000216190|protein_coding|4/14|c.307-35A>G||||||,C|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000541106|protein_coding|3/13|c.162-37A>G||||||,C|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000405442|protein_coding|4/14|c.307-35A>G||||||,C|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000455547|protein_coding|5/9|c.307-35A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000457241|protein_coding|4/6|c.307-35A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000432675|protein_coding|4/5|c.307-35A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000402116|protein_coding|4/4|c.307-35A>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 36920064 . G A . . ANN=A|upstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000458572|nonsense_mediated_decay||n.-2C>T|||||4516|,A|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000496875|retained_intron||n.*604C>T|||||678|,A|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000216190|protein_coding|4/14|c.307-37C>T||||||,A|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000541106|protein_coding|3/13|c.162-39C>T||||||,A|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000405442|protein_coding|4/14|c.307-37C>T||||||,A|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000455547|protein_coding|5/9|c.307-37C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000457241|protein_coding|4/6|c.307-37C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000432675|protein_coding|4/5|c.307-37C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000402116|protein_coding|4/4|c.307-37C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 36920598 . A T . . ANN=T|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000496875|retained_intron||n.*604T>A|||||144|,T|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000216190|protein_coding|4/14|c.306+45T>A||||||,T|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000541106|protein_coding|3/13|c.162-573T>A||||||,T|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000405442|protein_coding|4/14|c.306+45T>A||||||,T|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000455547|protein_coding|5/9|c.306+45T>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000457241|protein_coding|4/6|c.306+45T>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000432675|protein_coding|4/5|c.306+45T>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000402116|protein_coding|4/4|c.306+45T>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 36920652 . T C . . ANN=C|synonymous_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000216190|protein_coding|4/15|c.297A>G|p.Arg99Arg|668/2155|297/1647|99/548||,C|synonymous_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000405442|protein_coding|4/15|c.297A>G|p.Arg99Arg|413/1851|297/1647|99/548||,C|synonymous_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000455547|protein_coding|5/10|c.297A>G|p.Arg99Arg|484/996|297/809|99/268||WARNING_TRANSCRIPT_INCOMPLETE,C|synonymous_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000457241|protein_coding|4/7|c.297A>G|p.Arg99Arg|505/729|297/521|99/172||WARNING_TRANSCRIPT_INCOMPLETE,C|synonymous_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000432675|protein_coding|4/6|c.297A>G|p.Arg99Arg|416/678|297/559|99/185||WARNING_TRANSCRIPT_INCOMPLETE,C|synonymous_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000402116|protein_coding|4/5|c.297A>G|p.Arg99Arg|507/581|297/371|99/122||WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000496875|retained_intron||n.*604A>G|||||90|,C|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000541106|protein_coding|3/13|c.162-627A>G|||||| 22 36920691 . C T . . ANN=T|synonymous_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000216190|protein_coding|4/15|c.258G>A|p.Ala86Ala|629/2155|258/1647|86/548||,T|synonymous_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000405442|protein_coding|4/15|c.258G>A|p.Ala86Ala|374/1851|258/1647|86/548||,T|synonymous_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000455547|protein_coding|5/10|c.258G>A|p.Ala86Ala|445/996|258/809|86/268||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000457241|protein_coding|4/7|c.258G>A|p.Ala86Ala|466/729|258/521|86/172||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000432675|protein_coding|4/6|c.258G>A|p.Ala86Ala|377/678|258/559|86/185||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000402116|protein_coding|4/5|c.258G>A|p.Ala86Ala|468/581|258/371|86/122||WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000496875|retained_intron||n.*604G>A|||||51|,T|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000541106|protein_coding|3/13|c.162-666G>A|||||| 22 36920692 . G A . . ANN=A|missense_variant|MODERATE|EIF3D|ENSG00000100353|transcript|ENST00000216190|protein_coding|4/15|c.257C>T|p.Ala86Val|628/2155|257/1647|86/548||,A|missense_variant|MODERATE|EIF3D|ENSG00000100353|transcript|ENST00000405442|protein_coding|4/15|c.257C>T|p.Ala86Val|373/1851|257/1647|86/548||,A|missense_variant|MODERATE|EIF3D|ENSG00000100353|transcript|ENST00000455547|protein_coding|5/10|c.257C>T|p.Ala86Val|444/996|257/809|86/268||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|EIF3D|ENSG00000100353|transcript|ENST00000457241|protein_coding|4/7|c.257C>T|p.Ala86Val|465/729|257/521|86/172||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|EIF3D|ENSG00000100353|transcript|ENST00000432675|protein_coding|4/6|c.257C>T|p.Ala86Val|376/678|257/559|86/185||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|EIF3D|ENSG00000100353|transcript|ENST00000402116|protein_coding|4/5|c.257C>T|p.Ala86Val|467/581|257/371|86/122||WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000496875|retained_intron||n.*604C>T|||||50|,A|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000541106|protein_coding|3/13|c.162-667C>T|||||| 22 36920806 . T C . . ANN=C|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000216190|protein_coding|3/14|c.170-27A>G||||||,C|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000541106|protein_coding|3/13|c.162-781A>G||||||,C|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000405442|protein_coding|3/14|c.170-27A>G||||||,C|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000455547|protein_coding|4/9|c.170-27A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000457241|protein_coding|3/6|c.170-27A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000432675|protein_coding|3/5|c.170-27A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000402116|protein_coding|3/4|c.170-27A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000496875|retained_intron|2/2|n.567-27A>G|||||| 22 36920815 . C T . . ANN=T|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000216190|protein_coding|3/14|c.170-36G>A||||||,T|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000541106|protein_coding|3/13|c.162-790G>A||||||,T|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000405442|protein_coding|3/14|c.170-36G>A||||||,T|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000455547|protein_coding|4/9|c.170-36G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000457241|protein_coding|3/6|c.170-36G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000432675|protein_coding|3/5|c.170-36G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000402116|protein_coding|3/4|c.170-36G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000496875|retained_intron|2/2|n.567-36G>A|||||| 22 36921733 . T C . . ANN=C|synonymous_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000216190|protein_coding|3/15|c.147A>G|p.Thr49Thr|518/2155|147/1647|49/548||,C|synonymous_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000541106|protein_coding|3/14|c.147A>G|p.Thr49Thr|248/1731|147/1500|49/499||,C|synonymous_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000405442|protein_coding|3/15|c.147A>G|p.Thr49Thr|263/1851|147/1647|49/548||,C|synonymous_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000455547|protein_coding|4/10|c.147A>G|p.Thr49Thr|334/996|147/809|49/268||WARNING_TRANSCRIPT_INCOMPLETE,C|synonymous_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000457241|protein_coding|3/7|c.147A>G|p.Thr49Thr|355/729|147/521|49/172||WARNING_TRANSCRIPT_INCOMPLETE,C|synonymous_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000432675|protein_coding|3/6|c.147A>G|p.Thr49Thr|266/678|147/559|49/185||WARNING_TRANSCRIPT_INCOMPLETE,C|synonymous_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000402116|protein_coding|3/5|c.147A>G|p.Thr49Thr|357/581|147/371|49/122||WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000496875|retained_intron|2/3|n.544A>G|||||| 22 36921761 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000216190|protein_coding|2/14|c.124-5C>T||||||,A|splice_region_variant&intron_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000541106|protein_coding|2/13|c.124-5C>T||||||,A|splice_region_variant&intron_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000405442|protein_coding|2/14|c.124-5C>T||||||,A|splice_region_variant&intron_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000455547|protein_coding|3/9|c.124-5C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|splice_region_variant&intron_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000457241|protein_coding|2/6|c.124-5C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|splice_region_variant&intron_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000432675|protein_coding|2/5|c.124-5C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|splice_region_variant&intron_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000402116|protein_coding|2/4|c.124-5C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000496875|retained_intron|2/3|n.516C>T|||||| 22 36922035 . C G . . ANN=G|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000216190|protein_coding|2/14|c.123+11G>C||||||,G|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000541106|protein_coding|2/13|c.123+11G>C||||||,G|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000405442|protein_coding|2/14|c.123+11G>C||||||,G|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000455547|protein_coding|3/9|c.123+11G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000457241|protein_coding|2/6|c.123+11G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000432675|protein_coding|2/5|c.123+11G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000402116|protein_coding|2/4|c.123+11G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000496875|retained_intron|2/3|n.242G>C|||||| 22 36922052 . T C . . ANN=C|synonymous_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000216190|protein_coding|2/15|c.117A>G|p.Leu39Leu|488/2155|117/1647|39/548||,C|synonymous_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000541106|protein_coding|2/14|c.117A>G|p.Leu39Leu|218/1731|117/1500|39/499||,C|synonymous_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000405442|protein_coding|2/15|c.117A>G|p.Leu39Leu|233/1851|117/1647|39/548||,C|synonymous_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000455547|protein_coding|3/10|c.117A>G|p.Leu39Leu|304/996|117/809|39/268||WARNING_TRANSCRIPT_INCOMPLETE,C|synonymous_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000457241|protein_coding|2/7|c.117A>G|p.Leu39Leu|325/729|117/521|39/172||WARNING_TRANSCRIPT_INCOMPLETE,C|synonymous_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000432675|protein_coding|2/6|c.117A>G|p.Leu39Leu|236/678|117/559|39/185||WARNING_TRANSCRIPT_INCOMPLETE,C|synonymous_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000402116|protein_coding|2/5|c.117A>G|p.Leu39Leu|327/581|117/371|39/122||WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000496875|retained_intron|2/3|n.225A>G|||||| 22 36922067 . G A . . ANN=A|synonymous_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000216190|protein_coding|2/15|c.102C>T|p.Ser34Ser|473/2155|102/1647|34/548||,A|synonymous_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000541106|protein_coding|2/14|c.102C>T|p.Ser34Ser|203/1731|102/1500|34/499||,A|synonymous_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000405442|protein_coding|2/15|c.102C>T|p.Ser34Ser|218/1851|102/1647|34/548||,A|synonymous_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000455547|protein_coding|3/10|c.102C>T|p.Ser34Ser|289/996|102/809|34/268||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000457241|protein_coding|2/7|c.102C>T|p.Ser34Ser|310/729|102/521|34/172||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000432675|protein_coding|2/6|c.102C>T|p.Ser34Ser|221/678|102/559|34/185||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|EIF3D|ENSG00000100353|transcript|ENST00000402116|protein_coding|2/5|c.102C>T|p.Ser34Ser|312/581|102/371|34/122||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000496875|retained_intron|2/3|n.210C>T|||||| 22 36922205 . C T . . ANN=T|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000216190|protein_coding|1/14|c.-10-27G>A||||||,T|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000541106|protein_coding|1/13|c.-10-27G>A||||||,T|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000405442|protein_coding|1/14|c.-10-27G>A||||||,T|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000455547|protein_coding|2/9|c.-10-27G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000457241|protein_coding|1/6|c.-10-27G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000432675|protein_coding|1/5|c.-10-27G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000402116|protein_coding|1/4|c.-10-27G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000496875|retained_intron|1/2|n.99-27G>A|||||| 22 36960419 . G A . . ANN=A|synonymous_variant|LOW|CACNG2|ENSG00000166862|transcript|ENST00000300105|protein_coding|4/4|c.951C>T|p.Asn317Asn|1933/2384|951/972|317/323||,A|upstream_gene_variant|MODIFIER|RP5-1119A7.17|ENSG00000261675|transcript|ENST00000562756|sense_overlapping||n.-1C>T|||||1457| 22 36960589 . T G . . ANN=G|missense_variant|MODERATE|CACNG2|ENSG00000166862|transcript|ENST00000300105|protein_coding|4/4|c.781A>C|p.Asn261His|1763/2384|781/972|261/323||,G|upstream_gene_variant|MODIFIER|RP5-1119A7.17|ENSG00000261675|transcript|ENST00000562756|sense_overlapping||n.-1A>C|||||1627| 22 36960611 . G T . . ANN=T|synonymous_variant|LOW|CACNG2|ENSG00000166862|transcript|ENST00000300105|protein_coding|4/4|c.759C>A|p.Ser253Ser|1741/2384|759/972|253/323||,T|upstream_gene_variant|MODIFIER|RP5-1119A7.17|ENSG00000261675|transcript|ENST00000562756|sense_overlapping||n.-1C>A|||||1649| 22 36960725 . C T . . ANN=T|synonymous_variant|LOW|CACNG2|ENSG00000166862|transcript|ENST00000300105|protein_coding|4/4|c.645G>A|p.Thr215Thr|1627/2384|645/972|215/323||,T|upstream_gene_variant|MODIFIER|RP5-1119A7.17|ENSG00000261675|transcript|ENST00000562756|sense_overlapping||n.-1G>A|||||1763| 22 36960758 . C A . . ANN=A|synonymous_variant|LOW|CACNG2|ENSG00000166862|transcript|ENST00000300105|protein_coding|4/4|c.612G>T|p.Arg204Arg|1594/2384|612/972|204/323||,A|upstream_gene_variant|MODIFIER|RP5-1119A7.17|ENSG00000261675|transcript|ENST00000562756|sense_overlapping||n.-1G>T|||||1796| 22 36960957 . T A . . ANN=A|sequence_feature|LOW|CACNG2|ENSG00000166862|transmembrane_region:Transmembrane_region|ENST00000300105|protein_coding|3/4|c.437-24A>T||||||,A|sequence_feature|LOW|CACNG2|ENSG00000166862|transmembrane_region:Transmembrane_region|ENST00000300105|protein_coding|4/4|c.437-24A>T||||||,A|upstream_gene_variant|MODIFIER|RP5-1119A7.17|ENSG00000261675|transcript|ENST00000562756|sense_overlapping||n.-1A>T|||||1995|,A|intron_variant|MODIFIER|CACNG2|ENSG00000166862|transcript|ENST00000300105|protein_coding|3/3|c.437-24A>T|||||| 22 36962353 . C G . . ANN=G|sequence_feature|LOW|CACNG2|ENSG00000166862|transmembrane_region:Transmembrane_region|ENST00000300105|protein_coding|3/4|c.436+47G>C||||||,G|sequence_feature|LOW|CACNG2|ENSG00000166862|transmembrane_region:Transmembrane_region|ENST00000300105|protein_coding|4/4|c.436+47G>C||||||,G|upstream_gene_variant|MODIFIER|RP5-1119A7.17|ENSG00000261675|transcript|ENST00000562756|sense_overlapping||n.-1G>C|||||3391|,G|intron_variant|MODIFIER|CACNG2|ENSG00000166862|transcript|ENST00000300105|protein_coding|3/3|c.436+47G>C|||||| 22 36962391 . G A . . ANN=A|sequence_feature|LOW|CACNG2|ENSG00000166862|transmembrane_region:Transmembrane_region|ENST00000300105|protein_coding|3/4|c.436+9C>T||||||,A|sequence_feature|LOW|CACNG2|ENSG00000166862|transmembrane_region:Transmembrane_region|ENST00000300105|protein_coding|4/4|c.436+9C>T||||||,A|upstream_gene_variant|MODIFIER|RP5-1119A7.17|ENSG00000261675|transcript|ENST00000562756|sense_overlapping||n.-1C>T|||||3429|,A|intron_variant|MODIFIER|CACNG2|ENSG00000166862|transcript|ENST00000300105|protein_coding|3/3|c.436+9C>T|||||| 22 36962571 . G C . . ANN=C|upstream_gene_variant|MODIFIER|RP5-1119A7.17|ENSG00000261675|transcript|ENST00000562756|sense_overlapping||n.-1C>G|||||3609|,C|intron_variant|MODIFIER|CACNG2|ENSG00000166862|transcript|ENST00000300105|protein_coding|2/3|c.296-31C>G|||||| 22 36983483 . G A . . ANN=A|upstream_gene_variant|MODIFIER|CACNG2|ENSG00000166862|transcript|ENST00000480002|processed_transcript||n.-1C>T|||||1982|,A|intron_variant|MODIFIER|CACNG2|ENSG00000166862|transcript|ENST00000300105|protein_coding|2/3|c.295+29C>T|||||| 22 36983500 . G A . . ANN=A|upstream_gene_variant|MODIFIER|CACNG2|ENSG00000166862|transcript|ENST00000480002|processed_transcript||n.-1C>T|||||1999|,A|intron_variant|MODIFIER|CACNG2|ENSG00000166862|transcript|ENST00000300105|protein_coding|2/3|c.295+12C>T|||||| 22 36983540 . G A . . ANN=A|synonymous_variant|LOW|CACNG2|ENSG00000166862|transcript|ENST00000300105|protein_coding|2/4|c.267C>T|p.Tyr89Tyr|1249/2384|267/972|89/323||,A|upstream_gene_variant|MODIFIER|CACNG2|ENSG00000166862|transcript|ENST00000480002|processed_transcript||n.-1C>T|||||2039| 22 36983582 . A G . . ANN=G|synonymous_variant|LOW|CACNG2|ENSG00000166862|transcript|ENST00000300105|protein_coding|2/4|c.225T>C|p.Gly75Gly|1207/2384|225/972|75/323||,G|upstream_gene_variant|MODIFIER|CACNG2|ENSG00000166862|transcript|ENST00000480002|processed_transcript||n.-1T>C|||||2081| 22 36983607 . G T . . ANN=T|upstream_gene_variant|MODIFIER|CACNG2|ENSG00000166862|transcript|ENST00000480002|processed_transcript||n.-1C>A|||||2106|,T|intron_variant|MODIFIER|CACNG2|ENSG00000166862|transcript|ENST00000300105|protein_coding|1/3|c.212-12C>A|||||| 22 36983627 . ACAT A . . ANN=|upstream_gene_variant|MODIFIER|CACNG2|ENSG00000166862|transcript|ENST00000480002|processed_transcript||n.-1_-1delATG|||||2127|,|intron_variant|MODIFIER|CACNG2|ENSG00000166862|transcript|ENST00000300105|protein_coding|1/3|c.212-35_212-33delATG|||||| 22 36983645 . C T . . ANN=T|upstream_gene_variant|MODIFIER|CACNG2|ENSG00000166862|transcript|ENST00000480002|processed_transcript||n.-1G>A|||||2144|,T|intron_variant|MODIFIER|CACNG2|ENSG00000166862|transcript|ENST00000300105|protein_coding|1/3|c.212-50G>A|||||| 22 37098386 . G C . . ANN=C|upstream_gene_variant|MODIFIER|RP1-293L6.1|ENSG00000234688|transcript|ENST00000430281|antisense||n.-1G>C|||||1577|,C|intron_variant|MODIFIER|CACNG2|ENSG00000166862|transcript|ENST00000300105|protein_coding|1/3|c.211+25C>G|||||| 22 37098406 . A T . . ANN=T|splice_region_variant&intron_variant|LOW|CACNG2|ENSG00000166862|transcript|ENST00000300105|protein_coding|1/3|c.211+5T>A||||||,T|upstream_gene_variant|MODIFIER|RP1-293L6.1|ENSG00000234688|transcript|ENST00000430281|antisense||n.-1A>T|||||1557| 22 37154326 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000433985|protein_coding|7/7|c.*29C>T|||||29|,A|3_prime_UTR_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000340630|protein_coding|7/7|c.*29C>T|||||29|,A|3_prime_UTR_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000453009|protein_coding|7/7|c.*29C>T|||||29|,A|3_prime_UTR_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000415653|nonsense_mediated_decay|7/7|n.*201C>T|||||2635|,A|downstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000417951|protein_coding||c.*946C>T|||||4651|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000495987|processed_transcript|2/2|n.290C>T||||||,A|non_coding_exon_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000474616|processed_transcript|2/2|n.387C>T||||||,A|non_coding_exon_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000495555|retained_intron|4/4|n.673C>T||||||,A|non_coding_exon_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000415653|nonsense_mediated_decay|7/7|n.*201C>T||||||,A|non_coding_exon_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000471809|retained_intron|5/5|n.6404C>T|||||| 22 37154339 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000433985|protein_coding|7/7|c.*16C>T|||||16|,A|3_prime_UTR_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000340630|protein_coding|7/7|c.*16C>T|||||16|,A|3_prime_UTR_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000453009|protein_coding|7/7|c.*16C>T|||||16|,A|3_prime_UTR_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000415653|nonsense_mediated_decay|7/7|n.*188C>T|||||2622|,A|downstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000417951|protein_coding||c.*946C>T|||||4638|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000495987|processed_transcript|2/2|n.277C>T||||||,A|non_coding_exon_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000474616|processed_transcript|2/2|n.374C>T||||||,A|non_coding_exon_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000495555|retained_intron|4/4|n.660C>T||||||,A|non_coding_exon_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000415653|nonsense_mediated_decay|7/7|n.*188C>T||||||,A|non_coding_exon_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000471809|retained_intron|5/5|n.6391C>T|||||| 22 37158898 . C T . . ANN=T|upstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000495987|processed_transcript||n.-1G>A|||||1947|,T|upstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000474616|processed_transcript||n.-1G>A|||||1752|,T|downstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000417951|protein_coding||c.*946G>A|||||79|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000430701|protein_coding||c.*531G>A|||||1065|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000440696|protein_coding||c.*813G>A|||||1142|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000465023|retained_intron||n.*406G>A|||||4209|,T|intron_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000433985|protein_coding|6/6|c.462+50G>A||||||,T|intron_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000340630|protein_coding|6/6|c.459+50G>A||||||,T|intron_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000453009|protein_coding|6/6|c.339+50G>A||||||,T|intron_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000495555|retained_intron|3/3|n.545+50G>A||||||,T|intron_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000415653|nonsense_mediated_decay|5/6|n.384+50G>A||||||,T|non_coding_exon_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000471809|retained_intron|5/5|n.1832G>A|||||| 22 37158985 . G A . . ANN=A|missense_variant|MODERATE|IFT27|ENSG00000100360|transcript|ENST00000433985|protein_coding|6/7|c.425C>T|p.Ala142Val|846/1090|425/561|142/186||,A|missense_variant|MODERATE|IFT27|ENSG00000100360|transcript|ENST00000340630|protein_coding|6/7|c.422C>T|p.Ala141Val|868/1113|422/558|141/185||,A|missense_variant|MODERATE|IFT27|ENSG00000100360|transcript|ENST00000453009|protein_coding|6/7|c.302C>T|p.Ala101Val|439/683|302/438|101/145||,A|missense_variant|MODERATE|IFT27|ENSG00000100360|transcript|ENST00000417951|protein_coding|7/7|c.542C>T|p.Ala181Val|938/946|542/550|181/182||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000495987|processed_transcript||n.-1C>T|||||2034|,A|upstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000474616|processed_transcript||n.-1C>T|||||1839|,A|downstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000430701|protein_coding||c.*531C>T|||||978|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000440696|protein_coding||c.*813C>T|||||1055|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000465023|retained_intron||n.*406C>T|||||4122|,A|non_coding_exon_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000495555|retained_intron|3/4|n.508C>T||||||,A|non_coding_exon_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000415653|nonsense_mediated_decay|5/7|n.347C>T||||||,A|non_coding_exon_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000471809|retained_intron|5/5|n.1745C>T|||||| 22 37158995 . G A . . ANN=A|missense_variant|MODERATE|IFT27|ENSG00000100360|transcript|ENST00000433985|protein_coding|6/7|c.415C>T|p.Arg139Trp|836/1090|415/561|139/186||,A|missense_variant|MODERATE|IFT27|ENSG00000100360|transcript|ENST00000340630|protein_coding|6/7|c.412C>T|p.Arg138Trp|858/1113|412/558|138/185||,A|missense_variant|MODERATE|IFT27|ENSG00000100360|transcript|ENST00000453009|protein_coding|6/7|c.292C>T|p.Arg98Trp|429/683|292/438|98/145||,A|missense_variant|MODERATE|IFT27|ENSG00000100360|transcript|ENST00000417951|protein_coding|7/7|c.532C>T|p.Arg178Trp|928/946|532/550|178/182||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000495987|processed_transcript||n.-1C>T|||||2044|,A|upstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000474616|processed_transcript||n.-1C>T|||||1849|,A|downstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000430701|protein_coding||c.*531C>T|||||968|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000440696|protein_coding||c.*813C>T|||||1045|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000465023|retained_intron||n.*406C>T|||||4112|,A|non_coding_exon_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000495555|retained_intron|3/4|n.498C>T||||||,A|non_coding_exon_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000415653|nonsense_mediated_decay|5/7|n.337C>T||||||,A|non_coding_exon_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000471809|retained_intron|5/5|n.1735C>T|||||| 22 37159036 . G A . . ANN=A|missense_variant|MODERATE|IFT27|ENSG00000100360|transcript|ENST00000433985|protein_coding|6/7|c.374C>T|p.Thr125Ile|795/1090|374/561|125/186||,A|missense_variant|MODERATE|IFT27|ENSG00000100360|transcript|ENST00000340630|protein_coding|6/7|c.371C>T|p.Thr124Ile|817/1113|371/558|124/185||,A|missense_variant|MODERATE|IFT27|ENSG00000100360|transcript|ENST00000453009|protein_coding|6/7|c.251C>T|p.Thr84Ile|388/683|251/438|84/145||,A|missense_variant|MODERATE|IFT27|ENSG00000100360|transcript|ENST00000417951|protein_coding|7/7|c.491C>T|p.Thr164Ile|887/946|491/550|164/182||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|IFT27|ENSG00000100360|nucleotide_phosphate-binding_region:GTP|ENST00000433985|protein_coding|6/7|c.374C>T||||||,A|sequence_feature|LOW|IFT27|ENSG00000100360|nucleotide_phosphate-binding_region:GTP|ENST00000340630|protein_coding|6/7|c.371C>T||||||,A|upstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000495987|processed_transcript||n.-1C>T|||||2085|,A|upstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000474616|processed_transcript||n.-1C>T|||||1890|,A|downstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000430701|protein_coding||c.*531C>T|||||927|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000440696|protein_coding||c.*813C>T|||||1004|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000465023|retained_intron||n.*406C>T|||||4071|,A|non_coding_exon_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000495555|retained_intron|3/4|n.457C>T||||||,A|non_coding_exon_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000415653|nonsense_mediated_decay|5/7|n.296C>T||||||,A|non_coding_exon_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000471809|retained_intron|5/5|n.1694C>T|||||| 22 37159101 . C G . . ANN=G|upstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000495987|processed_transcript||n.-1G>C|||||2150|,G|upstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000474616|processed_transcript||n.-1G>C|||||1955|,G|downstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000430701|protein_coding||c.*531G>C|||||862|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000440696|protein_coding||c.*813G>C|||||939|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000465023|retained_intron||n.*406G>C|||||4006|,G|intron_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000433985|protein_coding|5/6|c.353-44G>C||||||,G|intron_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000340630|protein_coding|5/6|c.350-44G>C||||||,G|intron_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000453009|protein_coding|5/6|c.230-44G>C||||||,G|intron_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000495555|retained_intron|2/3|n.436-44G>C||||||,G|intron_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000415653|nonsense_mediated_decay|4/6|n.275-44G>C||||||,G|intron_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000417951|protein_coding|6/6|c.470-44G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000471809|retained_intron|5/5|n.1629G>C|||||| 22 37159993 . G A . . ANN=A|missense_variant|MODERATE|IFT27|ENSG00000100360|transcript|ENST00000433985|protein_coding|5/7|c.322C>T|p.Arg108Trp|743/1090|322/561|108/186||,A|missense_variant|MODERATE|IFT27|ENSG00000100360|transcript|ENST00000340630|protein_coding|5/7|c.319C>T|p.Arg107Trp|765/1113|319/558|107/185||,A|missense_variant|MODERATE|IFT27|ENSG00000100360|transcript|ENST00000453009|protein_coding|5/7|c.199C>T|p.Arg67Trp|336/683|199/438|67/145||,A|missense_variant|MODERATE|IFT27|ENSG00000100360|transcript|ENST00000417951|protein_coding|6/7|c.439C>T|p.Arg147Trp|835/946|439/550|147/182||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|IFT27|ENSG00000100360|transcript|ENST00000430701|protein_coding|6/6|c.319C>T|p.Arg107Trp|501/531|319/349|107/115||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000495987|processed_transcript||n.-1C>T|||||3042|,A|upstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000474616|processed_transcript||n.-1C>T|||||2847|,A|downstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000440696|protein_coding||c.*813C>T|||||47|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000465023|retained_intron||n.*406C>T|||||3114|,A|non_coding_exon_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000495555|retained_intron|2/4|n.405C>T||||||,A|non_coding_exon_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000415653|nonsense_mediated_decay|4/7|n.244C>T||||||,A|non_coding_exon_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000471809|retained_intron|5/5|n.737C>T|||||| 22 37160049 . T C . . ANN=C|missense_variant|MODERATE|IFT27|ENSG00000100360|transcript|ENST00000433985|protein_coding|5/7|c.266A>G|p.Tyr89Cys|687/1090|266/561|89/186||,C|missense_variant|MODERATE|IFT27|ENSG00000100360|transcript|ENST00000340630|protein_coding|5/7|c.263A>G|p.Tyr88Cys|709/1113|263/558|88/185||,C|missense_variant|MODERATE|IFT27|ENSG00000100360|transcript|ENST00000453009|protein_coding|5/7|c.143A>G|p.Tyr48Cys|280/683|143/438|48/145||,C|missense_variant|MODERATE|IFT27|ENSG00000100360|transcript|ENST00000417951|protein_coding|6/7|c.383A>G|p.Tyr128Cys|779/946|383/550|128/182||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|IFT27|ENSG00000100360|transcript|ENST00000430701|protein_coding|6/6|c.263A>G|p.Tyr88Cys|445/531|263/349|88/115||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|IFT27|ENSG00000100360|transcript|ENST00000440696|protein_coding|5/5|c.143A>G|p.Tyr48Cys|804/813|143/152|48/49||WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000495987|processed_transcript||n.-1A>G|||||3098|,C|upstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000474616|processed_transcript||n.-1A>G|||||2903|,C|downstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000465023|retained_intron||n.*406A>G|||||3058|,C|non_coding_exon_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000495555|retained_intron|2/4|n.349A>G||||||,C|non_coding_exon_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000415653|nonsense_mediated_decay|4/7|n.188A>G||||||,C|non_coding_exon_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000471809|retained_intron|5/5|n.681A>G|||||| 22 37160111 . C T . . ANN=T|upstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000495987|processed_transcript||n.-1G>A|||||3160|,T|upstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000474616|processed_transcript||n.-1G>A|||||2965|,T|downstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000465023|retained_intron||n.*406G>A|||||2996|,T|intron_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000433985|protein_coding|4/6|c.235-31G>A||||||,T|intron_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000340630|protein_coding|4/6|c.232-31G>A||||||,T|intron_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000453009|protein_coding|4/6|c.112-31G>A||||||,T|intron_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000495555|retained_intron|1/3|n.318-31G>A||||||,T|intron_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000415653|nonsense_mediated_decay|3/6|n.157-31G>A||||||,T|intron_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000471809|retained_intron|4/4|n.650-31G>A||||||,T|intron_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000417951|protein_coding|5/6|c.352-31G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000430701|protein_coding|5/5|c.232-31G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000440696|protein_coding|4/4|c.112-31G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 37163329 . C T . . ANN=T|upstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000495555|retained_intron||n.-1G>A|||||831|,T|intron_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000433985|protein_coding|3/6|c.174+21G>A||||||,T|intron_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000340630|protein_coding|3/6|c.171+21G>A||||||,T|intron_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000453009|protein_coding|3/6|c.51+21G>A||||||,T|intron_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000415653|nonsense_mediated_decay|2/6|n.96+21G>A||||||,T|intron_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000471809|retained_intron|3/4|n.589+21G>A||||||,T|intron_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000417951|protein_coding|4/6|c.291+21G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000430701|protein_coding|4/5|c.171+21G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000440696|protein_coding|3/4|c.51+21G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000465023|retained_intron|3/3|n.184G>A|||||| 22 37163433 . T C . . ANN=C|upstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000495555|retained_intron||n.-1A>G|||||935|,C|intron_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000433985|protein_coding|2/6|c.115-24A>G||||||,C|intron_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000340630|protein_coding|2/6|c.112-24A>G||||||,C|intron_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000453009|protein_coding|2/6|c.-9-24A>G||||||,C|intron_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000415653|nonsense_mediated_decay|1/6|n.37-24A>G||||||,C|intron_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000471809|retained_intron|2/4|n.530-24A>G||||||,C|intron_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000417951|protein_coding|3/6|c.232-24A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000430701|protein_coding|3/5|c.112-24A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000440696|protein_coding|2/4|c.-9-24A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000465023|retained_intron|2/2|n.104-24A>G|||||| 22 37163864 . C T . . ANN=T|missense_variant|MODERATE|IFT27|ENSG00000100360|transcript|ENST00000433985|protein_coding|2/7|c.77G>A|p.Arg26His|498/1090|77/561|26/186||,T|missense_variant|MODERATE|IFT27|ENSG00000100360|transcript|ENST00000340630|protein_coding|2/7|c.74G>A|p.Arg25His|520/1113|74/558|25/185||,T|missense_variant|MODERATE|IFT27|ENSG00000100360|transcript|ENST00000417951|protein_coding|3/7|c.194G>A|p.Arg65His|590/946|194/550|65/182||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|IFT27|ENSG00000100360|transcript|ENST00000430701|protein_coding|3/6|c.74G>A|p.Arg25His|256/531|74/349|25/115||WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000453009|protein_coding|2/7|c.-47G>A|||||464|,T|5_prime_UTR_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000440696|protein_coding|2/5|c.-47G>A|||||464|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000495555|retained_intron||n.-1G>A|||||1366|,T|upstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000415653|nonsense_mediated_decay||n.-2G>A|||||1|,T|downstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000476548|processed_transcript||n.*902G>A|||||4583|,T|non_coding_exon_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000471809|retained_intron|2/5|n.492G>A||||||,T|non_coding_exon_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000465023|retained_intron|2/3|n.66G>A|||||| 22 37163909 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|IFT27|ENSG00000100360|transcript|ENST00000433985|protein_coding|1/6|c.35-3C>T||||||,A|splice_region_variant&intron_variant|LOW|IFT27|ENSG00000100360|transcript|ENST00000340630|protein_coding|1/6|c.35-6C>T||||||,A|splice_region_variant&intron_variant|LOW|IFT27|ENSG00000100360|transcript|ENST00000453009|protein_coding|1/6|c.-89-3C>T||||||,A|splice_region_variant&intron_variant|LOW|IFT27|ENSG00000100360|transcript|ENST00000471809|retained_intron|1/4|n.453-6C>T||||||,A|splice_region_variant&intron_variant|LOW|IFT27|ENSG00000100360|transcript|ENST00000417951|protein_coding|2/6|c.152-3C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|splice_region_variant&intron_variant|LOW|IFT27|ENSG00000100360|transcript|ENST00000430701|protein_coding|2/5|c.35-6C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|splice_region_variant&intron_variant|LOW|IFT27|ENSG00000100360|transcript|ENST00000440696|protein_coding|1/4|c.-89-3C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|splice_region_variant&intron_variant|LOW|IFT27|ENSG00000100360|transcript|ENST00000465023|retained_intron|1/2|n.27-6C>T||||||,A|sequence_feature|LOW|IFT27|ENSG00000100360|nucleotide_phosphate-binding_region:GTP|ENST00000433985|protein_coding|2/7|c.35-3C>T||||||,A|sequence_feature|LOW|IFT27|ENSG00000100360|nucleotide_phosphate-binding_region:GTP|ENST00000433985|protein_coding|1/7|c.35-3C>T||||||,A|upstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000495555|retained_intron||n.-1C>T|||||1411|,A|upstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000415653|nonsense_mediated_decay||n.-2C>T|||||46|,A|downstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000476548|processed_transcript||n.*902C>T|||||4538| 22 37171689 . C A . . ANN=A|sequence_feature|LOW|IFT27|ENSG00000100360|nucleotide_phosphate-binding_region:GTP|ENST00000433985|protein_coding|2/7|c.34+29G>T||||||,A|sequence_feature|LOW|IFT27|ENSG00000100360|nucleotide_phosphate-binding_region:GTP|ENST00000433985|protein_coding|1/7|c.34+29G>T||||||,A|intron_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000433985|protein_coding|1/6|c.34+29G>T||||||,A|intron_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000340630|protein_coding|1/6|c.34+29G>T||||||,A|intron_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000471809|retained_intron|1/4|n.452+29G>T||||||,A|intron_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000417951|protein_coding|1/6|c.34+29G>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000430701|protein_coding|2/5|c.34+29G>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000465023|retained_intron|1/2|n.26+29G>T||||||,A|intron_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000476548|processed_transcript|1/1|n.583+29G>T|||||| 22 37171694 . T C . . ANN=C|sequence_feature|LOW|IFT27|ENSG00000100360|nucleotide_phosphate-binding_region:GTP|ENST00000433985|protein_coding|2/7|c.34+24A>G||||||,C|sequence_feature|LOW|IFT27|ENSG00000100360|nucleotide_phosphate-binding_region:GTP|ENST00000433985|protein_coding|1/7|c.34+24A>G||||||,C|intron_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000433985|protein_coding|1/6|c.34+24A>G||||||,C|intron_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000340630|protein_coding|1/6|c.34+24A>G||||||,C|intron_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000471809|retained_intron|1/4|n.452+24A>G||||||,C|intron_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000417951|protein_coding|1/6|c.34+24A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000430701|protein_coding|2/5|c.34+24A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000465023|retained_intron|1/2|n.26+24A>G||||||,C|intron_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000476548|processed_transcript|1/1|n.583+24A>G|||||| 22 37171725 . G A . . ANN=A|synonymous_variant|LOW|IFT27|ENSG00000100360|transcript|ENST00000433985|protein_coding|1/7|c.27C>T|p.Ile9Ile|448/1090|27/561|9/186||,A|synonymous_variant|LOW|IFT27|ENSG00000100360|transcript|ENST00000340630|protein_coding|1/7|c.27C>T|p.Ile9Ile|473/1113|27/558|9/185||,A|synonymous_variant|LOW|IFT27|ENSG00000100360|transcript|ENST00000417951|protein_coding|1/7|c.27C>T|p.Ile9Ile|423/946|27/550|9/182||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|IFT27|ENSG00000100360|transcript|ENST00000430701|protein_coding|2/6|c.27C>T|p.Ile9Ile|209/531|27/349|9/115||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000471809|retained_intron|1/5|n.445C>T||||||,A|non_coding_exon_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000465023|retained_intron|1/3|n.19C>T||||||,A|non_coding_exon_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000476548|processed_transcript|1/2|n.576C>T|||||| 22 37171757 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000433985|protein_coding|1/7|c.-6G>A|||||6|,T|5_prime_UTR_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000340630|protein_coding|1/7|c.-6G>A|||||6|,T|5_prime_UTR_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000417951|protein_coding|1/7|c.-6G>A|||||6|WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000430701|protein_coding|2/6|c.-6G>A|||||6|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000465023|retained_intron||n.-1G>A|||||14|,T|non_coding_exon_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000471809|retained_intron|1/5|n.413G>A||||||,T|non_coding_exon_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000476548|processed_transcript|1/2|n.544G>A|||||| 22 37196905 . G C . . ANN=C|3_prime_UTR_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000216200|protein_coding|5/5|c.*29C>G|||||29|,C|3_prime_UTR_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000417718|protein_coding|4/4|c.*29C>G|||||29|,C|3_prime_UTR_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000406910|protein_coding|5/5|c.*88C>G|||||10644|,C|3_prime_UTR_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000404171|protein_coding|4/4|c.*29C>G|||||29| 22 37196971 . C A . . ANN=A|sequence_feature|LOW|PVALB|ENSG00000100362|domain:EF-hand_2|ENST00000417718|protein_coding|4/4|c.305-9G>T||||||,A|sequence_feature|LOW|PVALB|ENSG00000100362|domain:EF-hand_2|ENST00000417718|protein_coding|3/4|c.305-9G>T||||||,A|sequence_feature|LOW|PVALB|ENSG00000100362|helix|ENST00000417718|protein_coding|4/4|c.305-9G>T||||||,A|sequence_feature|LOW|PVALB|ENSG00000100362|helix|ENST00000417718|protein_coding|3/4|c.305-9G>T||||||,A|sequence_feature|LOW|PVALB|ENSG00000100362|calcium-binding_region:2|ENST00000417718|protein_coding|4/4|c.305-9G>T||||||,A|sequence_feature|LOW|PVALB|ENSG00000100362|calcium-binding_region:2|ENST00000417718|protein_coding|3/4|c.305-9G>T||||||,A|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000216200|protein_coding|4/4|c.305-9G>T||||||,A|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000417718|protein_coding|3/3|c.305-9G>T||||||,A|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000406910|protein_coding|4/4|c.*31-9G>T||||||,A|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000404171|protein_coding|3/3|c.209-9G>T|||||| 22 37196986 . A G . . ANN=G|sequence_feature|LOW|PVALB|ENSG00000100362|domain:EF-hand_2|ENST00000417718|protein_coding|4/4|c.305-24T>C||||||,G|sequence_feature|LOW|PVALB|ENSG00000100362|domain:EF-hand_2|ENST00000417718|protein_coding|3/4|c.305-24T>C||||||,G|sequence_feature|LOW|PVALB|ENSG00000100362|helix|ENST00000417718|protein_coding|4/4|c.305-24T>C||||||,G|sequence_feature|LOW|PVALB|ENSG00000100362|helix|ENST00000417718|protein_coding|3/4|c.305-24T>C||||||,G|sequence_feature|LOW|PVALB|ENSG00000100362|calcium-binding_region:2|ENST00000417718|protein_coding|4/4|c.305-24T>C||||||,G|sequence_feature|LOW|PVALB|ENSG00000100362|calcium-binding_region:2|ENST00000417718|protein_coding|3/4|c.305-24T>C||||||,G|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000216200|protein_coding|4/4|c.305-24T>C||||||,G|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000417718|protein_coding|3/3|c.305-24T>C||||||,G|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000406910|protein_coding|4/4|c.*31-24T>C||||||,G|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000404171|protein_coding|3/3|c.209-24T>C|||||| 22 37196999 . C T . . ANN=T|sequence_feature|LOW|PVALB|ENSG00000100362|domain:EF-hand_2|ENST00000417718|protein_coding|4/4|c.305-37G>A||||||,T|sequence_feature|LOW|PVALB|ENSG00000100362|domain:EF-hand_2|ENST00000417718|protein_coding|3/4|c.305-37G>A||||||,T|sequence_feature|LOW|PVALB|ENSG00000100362|helix|ENST00000417718|protein_coding|4/4|c.305-37G>A||||||,T|sequence_feature|LOW|PVALB|ENSG00000100362|helix|ENST00000417718|protein_coding|3/4|c.305-37G>A||||||,T|sequence_feature|LOW|PVALB|ENSG00000100362|calcium-binding_region:2|ENST00000417718|protein_coding|4/4|c.305-37G>A||||||,T|sequence_feature|LOW|PVALB|ENSG00000100362|calcium-binding_region:2|ENST00000417718|protein_coding|3/4|c.305-37G>A||||||,T|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000216200|protein_coding|4/4|c.305-37G>A||||||,T|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000417718|protein_coding|3/3|c.305-37G>A||||||,T|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000406910|protein_coding|4/4|c.*31-37G>A||||||,T|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000404171|protein_coding|3/3|c.209-37G>A|||||| 22 37209762 . G A . . ANN=A|synonymous_variant|LOW|PVALB|ENSG00000100362|transcript|ENST00000216200|protein_coding|4/5|c.232C>T|p.Leu78Leu|288/595|232/333|78/110||,A|synonymous_variant|LOW|PVALB|ENSG00000100362|transcript|ENST00000417718|protein_coding|3/4|c.232C>T|p.Leu78Leu|262/569|232/333|78/110||,A|synonymous_variant|LOW|PVALB|ENSG00000100362|transcript|ENST00000406910|protein_coding|3/5|c.226C>T|p.Leu76Leu|228/568|226/318|76/105||,A|synonymous_variant|LOW|PVALB|ENSG00000100362|transcript|ENST00000404171|protein_coding|3/4|c.136C>T|p.Leu46Leu|198/422|136/237|46/78||,A|synonymous_variant|LOW|PVALB|ENSG00000100362|transcript|ENST00000443735|protein_coding|4/4|c.232C>T|p.Leu78Leu|398/470|232/304|78/100||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|PVALB|ENSG00000100362|domain:EF-hand_2|ENST00000417718|protein_coding|4/4|c.232C>T||||||,A|sequence_feature|LOW|PVALB|ENSG00000100362|domain:EF-hand_2|ENST00000417718|protein_coding|3/4|c.232C>T||||||,A|upstream_gene_variant|MODIFIER|CITF22-24E5.1|ENSG00000234979|transcript|ENST00000417792|antisense||n.-1G>A|||||2608|,A|non_coding_exon_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000467935|retained_intron|3/3|n.262C>T|||||| 22 37209823 . C T . . ANN=T|sequence_feature|LOW|PVALB|ENSG00000100362|domain:EF-hand_1|ENST00000417718|protein_coding|2/4|c.195-24G>A||||||,T|sequence_feature|LOW|PVALB|ENSG00000100362|domain:EF-hand_1|ENST00000417718|protein_coding|3/4|c.195-24G>A||||||,T|sequence_feature|LOW|PVALB|ENSG00000100362|turn|ENST00000417718|protein_coding|2/4|c.195-24G>A||||||,T|sequence_feature|LOW|PVALB|ENSG00000100362|turn|ENST00000417718|protein_coding|3/4|c.195-24G>A||||||,T|upstream_gene_variant|MODIFIER|CITF22-24E5.1|ENSG00000234979|transcript|ENST00000417792|antisense||n.-1C>T|||||2547|,T|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000216200|protein_coding|3/4|c.195-24G>A||||||,T|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000417718|protein_coding|2/3|c.195-24G>A||||||,T|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000406910|protein_coding|2/4|c.189-24G>A||||||,T|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000404171|protein_coding|2/3|c.99-24G>A||||||,T|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000467935|retained_intron|2/2|n.225-24G>A||||||,T|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000443735|protein_coding|3/3|c.195-24G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 37209829 . G A . . ANN=A|sequence_feature|LOW|PVALB|ENSG00000100362|domain:EF-hand_1|ENST00000417718|protein_coding|2/4|c.195-30C>T||||||,A|sequence_feature|LOW|PVALB|ENSG00000100362|domain:EF-hand_1|ENST00000417718|protein_coding|3/4|c.195-30C>T||||||,A|sequence_feature|LOW|PVALB|ENSG00000100362|turn|ENST00000417718|protein_coding|2/4|c.195-30C>T||||||,A|sequence_feature|LOW|PVALB|ENSG00000100362|turn|ENST00000417718|protein_coding|3/4|c.195-30C>T||||||,A|upstream_gene_variant|MODIFIER|CITF22-24E5.1|ENSG00000234979|transcript|ENST00000417792|antisense||n.-1G>A|||||2541|,A|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000216200|protein_coding|3/4|c.195-30C>T||||||,A|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000417718|protein_coding|2/3|c.195-30C>T||||||,A|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000406910|protein_coding|2/4|c.189-30C>T||||||,A|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000404171|protein_coding|2/3|c.99-30C>T||||||,A|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000467935|retained_intron|2/2|n.225-30C>T||||||,A|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000443735|protein_coding|3/3|c.195-30C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 37211105 . G C . . ANN=C|sequence_feature|LOW|PVALB|ENSG00000100362|domain:EF-hand_1|ENST00000417718|protein_coding|2/4|c.194+42C>G||||||,C|sequence_feature|LOW|PVALB|ENSG00000100362|domain:EF-hand_1|ENST00000417718|protein_coding|3/4|c.194+42C>G||||||,C|sequence_feature|LOW|PVALB|ENSG00000100362|turn|ENST00000417718|protein_coding|2/4|c.194+42C>G||||||,C|sequence_feature|LOW|PVALB|ENSG00000100362|turn|ENST00000417718|protein_coding|3/4|c.194+42C>G||||||,C|upstream_gene_variant|MODIFIER|CITF22-24E5.1|ENSG00000234979|transcript|ENST00000417792|antisense||n.-1G>C|||||1265|,C|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000216200|protein_coding|3/4|c.194+42C>G||||||,C|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000417718|protein_coding|2/3|c.194+42C>G||||||,C|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000406910|protein_coding|2/4|c.188+42C>G||||||,C|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000404171|protein_coding|2/3|c.98+42C>G||||||,C|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000467935|retained_intron|2/2|n.224+42C>G||||||,C|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000443735|protein_coding|3/3|c.194+42C>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 37211141 . G C . . ANN=C|splice_region_variant&intron_variant|LOW|PVALB|ENSG00000100362|transcript|ENST00000216200|protein_coding|3/4|c.194+6C>G||||||,C|splice_region_variant&intron_variant|LOW|PVALB|ENSG00000100362|transcript|ENST00000417718|protein_coding|2/3|c.194+6C>G||||||,C|splice_region_variant&intron_variant|LOW|PVALB|ENSG00000100362|transcript|ENST00000406910|protein_coding|2/4|c.188+6C>G||||||,C|splice_region_variant&intron_variant|LOW|PVALB|ENSG00000100362|transcript|ENST00000404171|protein_coding|2/3|c.98+6C>G||||||,C|splice_region_variant&intron_variant|LOW|PVALB|ENSG00000100362|transcript|ENST00000467935|retained_intron|2/2|n.224+6C>G||||||,C|splice_region_variant&intron_variant|LOW|PVALB|ENSG00000100362|transcript|ENST00000443735|protein_coding|3/3|c.194+6C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|PVALB|ENSG00000100362|domain:EF-hand_1|ENST00000417718|protein_coding|2/4|c.194+6C>G||||||,C|sequence_feature|LOW|PVALB|ENSG00000100362|domain:EF-hand_1|ENST00000417718|protein_coding|3/4|c.194+6C>G||||||,C|sequence_feature|LOW|PVALB|ENSG00000100362|turn|ENST00000417718|protein_coding|2/4|c.194+6C>G||||||,C|sequence_feature|LOW|PVALB|ENSG00000100362|turn|ENST00000417718|protein_coding|3/4|c.194+6C>G||||||,C|upstream_gene_variant|MODIFIER|CITF22-24E5.1|ENSG00000234979|transcript|ENST00000417792|antisense||n.-1G>C|||||1229| 22 37211148 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|PVALB|ENSG00000100362|transcript|ENST00000216200|protein_coding|3/5|c.193G>A|p.Gly65Arg|249/595|193/333|65/110||,T|missense_variant&splice_region_variant|MODERATE|PVALB|ENSG00000100362|transcript|ENST00000417718|protein_coding|2/4|c.193G>A|p.Gly65Arg|223/569|193/333|65/110||,T|missense_variant&splice_region_variant|MODERATE|PVALB|ENSG00000100362|transcript|ENST00000406910|protein_coding|2/5|c.187G>A|p.Gly63Arg|189/568|187/318|63/105||,T|missense_variant&splice_region_variant|MODERATE|PVALB|ENSG00000100362|transcript|ENST00000404171|protein_coding|2/4|c.97G>A|p.Gly33Arg|159/422|97/237|33/78||,T|missense_variant&splice_region_variant|MODERATE|PVALB|ENSG00000100362|transcript|ENST00000443735|protein_coding|3/4|c.193G>A|p.Gly65Arg|359/470|193/304|65/100||WARNING_TRANSCRIPT_INCOMPLETE,T|splice_region_variant&non_coding_exon_variant|LOW|PVALB|ENSG00000100362|transcript|ENST00000467935|retained_intron|2/3|n.223G>A||||||,T|sequence_feature|LOW|PVALB|ENSG00000100362|domain:EF-hand_1|ENST00000417718|protein_coding|2/4|c.193G>A||||||,T|sequence_feature|LOW|PVALB|ENSG00000100362|domain:EF-hand_1|ENST00000417718|protein_coding|3/4|c.193G>A||||||,T|sequence_feature|LOW|PVALB|ENSG00000100362|turn|ENST00000417718|protein_coding|2/4|c.193G>A||||||,T|sequence_feature|LOW|PVALB|ENSG00000100362|turn|ENST00000417718|protein_coding|3/4|c.193G>A||||||,T|upstream_gene_variant|MODIFIER|CITF22-24E5.1|ENSG00000234979|transcript|ENST00000417792|antisense||n.-1C>T|||||1222| 22 37211155 . A G . . ANN=G|synonymous_variant|LOW|PVALB|ENSG00000100362|transcript|ENST00000216200|protein_coding|3/5|c.186T>C|p.Asp62Asp|242/595|186/333|62/110||,G|synonymous_variant|LOW|PVALB|ENSG00000100362|transcript|ENST00000417718|protein_coding|2/4|c.186T>C|p.Asp62Asp|216/569|186/333|62/110||,G|synonymous_variant|LOW|PVALB|ENSG00000100362|transcript|ENST00000406910|protein_coding|2/5|c.180T>C|p.Asp60Asp|182/568|180/318|60/105||,G|synonymous_variant|LOW|PVALB|ENSG00000100362|transcript|ENST00000404171|protein_coding|2/4|c.90T>C|p.Asp30Asp|152/422|90/237|30/78||,G|synonymous_variant|LOW|PVALB|ENSG00000100362|transcript|ENST00000443735|protein_coding|3/4|c.186T>C|p.Asp62Asp|352/470|186/304|62/100||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|PVALB|ENSG00000100362|domain:EF-hand_1|ENST00000417718|protein_coding|2/4|c.186T>C||||||,G|sequence_feature|LOW|PVALB|ENSG00000100362|domain:EF-hand_1|ENST00000417718|protein_coding|3/4|c.186T>C||||||,G|sequence_feature|LOW|PVALB|ENSG00000100362|helix|ENST00000417718|protein_coding|2/4|c.186T>C||||||,G|sequence_feature|LOW|PVALB|ENSG00000100362|calcium-binding_region:1|ENST00000417718|protein_coding|2/4|c.186T>C||||||,G|upstream_gene_variant|MODIFIER|CITF22-24E5.1|ENSG00000234979|transcript|ENST00000417792|antisense||n.-1A>G|||||1215|,G|non_coding_exon_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000467935|retained_intron|2/3|n.216T>C|||||| 22 37211219 . G A . . ANN=A|missense_variant|MODERATE|PVALB|ENSG00000100362|transcript|ENST00000216200|protein_coding|3/5|c.122C>T|p.Ala41Val|178/595|122/333|41/110||,A|missense_variant|MODERATE|PVALB|ENSG00000100362|transcript|ENST00000417718|protein_coding|2/4|c.122C>T|p.Ala41Val|152/569|122/333|41/110||,A|missense_variant|MODERATE|PVALB|ENSG00000100362|transcript|ENST00000406910|protein_coding|2/5|c.116C>T|p.Ala39Val|118/568|116/318|39/105||,A|missense_variant|MODERATE|PVALB|ENSG00000100362|transcript|ENST00000404171|protein_coding|2/4|c.26C>T|p.Ala9Val|88/422|26/237|9/78||,A|missense_variant|MODERATE|PVALB|ENSG00000100362|transcript|ENST00000443735|protein_coding|3/4|c.122C>T|p.Ala41Val|288/470|122/304|41/100||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|PVALB|ENSG00000100362|domain:EF-hand_1|ENST00000417718|protein_coding|2/4|c.122C>T||||||,A|sequence_feature|LOW|PVALB|ENSG00000100362|domain:EF-hand_1|ENST00000417718|protein_coding|3/4|c.122C>T||||||,A|sequence_feature|LOW|PVALB|ENSG00000100362|helix|ENST00000417718|protein_coding|2/4|c.122C>T||||||,A|upstream_gene_variant|MODIFIER|CITF22-24E5.1|ENSG00000234979|transcript|ENST00000417792|antisense||n.-1G>A|||||1151|,A|non_coding_exon_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000467935|retained_intron|2/3|n.152C>T|||||| 22 37211284 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|PVALB|ENSG00000100362|transcript|ENST00000216200|protein_coding|2/4|c.62-5C>T||||||,A|splice_region_variant&intron_variant|LOW|PVALB|ENSG00000100362|transcript|ENST00000417718|protein_coding|1/3|c.62-5C>T||||||,A|splice_region_variant&intron_variant|LOW|PVALB|ENSG00000100362|transcript|ENST00000406910|protein_coding|1/4|c.56-5C>T||||||,A|splice_region_variant&intron_variant|LOW|PVALB|ENSG00000100362|transcript|ENST00000404171|protein_coding|1/3|c.-35-5C>T||||||,A|splice_region_variant&intron_variant|LOW|PVALB|ENSG00000100362|transcript|ENST00000467935|retained_intron|1/2|n.92-5C>T||||||,A|splice_region_variant&intron_variant|LOW|PVALB|ENSG00000100362|transcript|ENST00000443735|protein_coding|2/3|c.62-5C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|PVALB|ENSG00000100362|beta_strand|ENST00000417718|protein_coding|1/4|c.62-5C>T||||||,A|sequence_feature|LOW|PVALB|ENSG00000100362|beta_strand|ENST00000417718|protein_coding|2/4|c.62-5C>T||||||,A|upstream_gene_variant|MODIFIER|CITF22-24E5.1|ENSG00000234979|transcript|ENST00000417792|antisense||n.-1G>A|||||1086| 22 37211286 . G C . . ANN=C|splice_region_variant&intron_variant|LOW|PVALB|ENSG00000100362|transcript|ENST00000216200|protein_coding|2/4|c.62-7C>G||||||,C|splice_region_variant&intron_variant|LOW|PVALB|ENSG00000100362|transcript|ENST00000417718|protein_coding|1/3|c.62-7C>G||||||,C|splice_region_variant&intron_variant|LOW|PVALB|ENSG00000100362|transcript|ENST00000406910|protein_coding|1/4|c.56-7C>G||||||,C|splice_region_variant&intron_variant|LOW|PVALB|ENSG00000100362|transcript|ENST00000404171|protein_coding|1/3|c.-35-7C>G||||||,C|splice_region_variant&intron_variant|LOW|PVALB|ENSG00000100362|transcript|ENST00000467935|retained_intron|1/2|n.92-7C>G||||||,C|splice_region_variant&intron_variant|LOW|PVALB|ENSG00000100362|transcript|ENST00000443735|protein_coding|2/3|c.62-7C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|PVALB|ENSG00000100362|beta_strand|ENST00000417718|protein_coding|1/4|c.62-7C>G||||||,C|sequence_feature|LOW|PVALB|ENSG00000100362|beta_strand|ENST00000417718|protein_coding|2/4|c.62-7C>G||||||,C|upstream_gene_variant|MODIFIER|CITF22-24E5.1|ENSG00000234979|transcript|ENST00000417792|antisense||n.-1G>C|||||1084| 22 37211287 . G T . . ANN=T|splice_region_variant&intron_variant|LOW|PVALB|ENSG00000100362|transcript|ENST00000216200|protein_coding|2/4|c.62-8C>A||||||,T|splice_region_variant&intron_variant|LOW|PVALB|ENSG00000100362|transcript|ENST00000417718|protein_coding|1/3|c.62-8C>A||||||,T|splice_region_variant&intron_variant|LOW|PVALB|ENSG00000100362|transcript|ENST00000406910|protein_coding|1/4|c.56-8C>A||||||,T|splice_region_variant&intron_variant|LOW|PVALB|ENSG00000100362|transcript|ENST00000404171|protein_coding|1/3|c.-35-8C>A||||||,T|splice_region_variant&intron_variant|LOW|PVALB|ENSG00000100362|transcript|ENST00000467935|retained_intron|1/2|n.92-8C>A||||||,T|splice_region_variant&intron_variant|LOW|PVALB|ENSG00000100362|transcript|ENST00000443735|protein_coding|2/3|c.62-8C>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|PVALB|ENSG00000100362|beta_strand|ENST00000417718|protein_coding|1/4|c.62-8C>A||||||,T|sequence_feature|LOW|PVALB|ENSG00000100362|beta_strand|ENST00000417718|protein_coding|2/4|c.62-8C>A||||||,T|upstream_gene_variant|MODIFIER|CITF22-24E5.1|ENSG00000234979|transcript|ENST00000417792|antisense||n.-1G>T|||||1083| 22 37211289 . G A,T . . ANN=A|sequence_feature|LOW|PVALB|ENSG00000100362|beta_strand|ENST00000417718|protein_coding|1/4|c.62-10C>T||||||,A|sequence_feature|LOW|PVALB|ENSG00000100362|beta_strand|ENST00000417718|protein_coding|2/4|c.62-10C>T||||||,T|sequence_feature|LOW|PVALB|ENSG00000100362|beta_strand|ENST00000417718|protein_coding|1/4|c.62-10C>A||||||,T|sequence_feature|LOW|PVALB|ENSG00000100362|beta_strand|ENST00000417718|protein_coding|2/4|c.62-10C>A||||||,A|upstream_gene_variant|MODIFIER|CITF22-24E5.1|ENSG00000234979|transcript|ENST00000417792|antisense||n.-1G>A|||||1081|,T|upstream_gene_variant|MODIFIER|CITF22-24E5.1|ENSG00000234979|transcript|ENST00000417792|antisense||n.-1G>T|||||1081|,A|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000216200|protein_coding|2/4|c.62-10C>T||||||,T|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000216200|protein_coding|2/4|c.62-10C>A||||||,A|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000417718|protein_coding|1/3|c.62-10C>T||||||,T|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000417718|protein_coding|1/3|c.62-10C>A||||||,A|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000406910|protein_coding|1/4|c.56-10C>T||||||,T|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000406910|protein_coding|1/4|c.56-10C>A||||||,A|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000404171|protein_coding|1/3|c.-35-10C>T||||||,T|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000404171|protein_coding|1/3|c.-35-10C>A||||||,A|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000467935|retained_intron|1/2|n.92-10C>T||||||,T|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000467935|retained_intron|1/2|n.92-10C>A||||||,A|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000443735|protein_coding|2/3|c.62-10C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000443735|protein_coding|2/3|c.62-10C>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 37211324 . T C . . ANN=C|sequence_feature|LOW|PVALB|ENSG00000100362|beta_strand|ENST00000417718|protein_coding|1/4|c.62-45A>G||||||,C|sequence_feature|LOW|PVALB|ENSG00000100362|beta_strand|ENST00000417718|protein_coding|2/4|c.62-45A>G||||||,C|upstream_gene_variant|MODIFIER|CITF22-24E5.1|ENSG00000234979|transcript|ENST00000417792|antisense||n.-1T>C|||||1046|,C|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000216200|protein_coding|2/4|c.62-45A>G||||||,C|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000417718|protein_coding|1/3|c.62-45A>G||||||,C|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000406910|protein_coding|1/4|c.56-45A>G||||||,C|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000404171|protein_coding|1/3|c.-35-45A>G||||||,C|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000467935|retained_intron|1/2|n.92-45A>G||||||,C|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000443735|protein_coding|2/3|c.62-45A>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 37212945 . G T . . ANN=T|sequence_feature|LOW|PVALB|ENSG00000100362|beta_strand|ENST00000417718|protein_coding|1/4|c.61+44C>A||||||,T|sequence_feature|LOW|PVALB|ENSG00000100362|beta_strand|ENST00000417718|protein_coding|2/4|c.61+44C>A||||||,T|upstream_gene_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000404171|protein_coding||c.-63C>A|||||1510|,T|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000216200|protein_coding|2/4|c.61+44C>A||||||,T|intron_variant|MODIFIER|CITF22-24E5.1|ENSG00000234979|transcript|ENST00000417792|antisense|1/2|n.115+461G>T||||||,T|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000417718|protein_coding|1/3|c.61+44C>A||||||,T|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000406910|protein_coding|1/4|c.55+44C>A||||||,T|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000467935|retained_intron|1/2|n.91+44C>A||||||,T|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000443735|protein_coding|2/3|c.61+44C>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 37212950 . C G . . ANN=G|sequence_feature|LOW|PVALB|ENSG00000100362|beta_strand|ENST00000417718|protein_coding|1/4|c.61+39G>C||||||,G|sequence_feature|LOW|PVALB|ENSG00000100362|beta_strand|ENST00000417718|protein_coding|2/4|c.61+39G>C||||||,G|upstream_gene_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000404171|protein_coding||c.-63G>C|||||1515|,G|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000216200|protein_coding|2/4|c.61+39G>C||||||,G|intron_variant|MODIFIER|CITF22-24E5.1|ENSG00000234979|transcript|ENST00000417792|antisense|1/2|n.115+466C>G||||||,G|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000417718|protein_coding|1/3|c.61+39G>C||||||,G|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000406910|protein_coding|1/4|c.55+39G>C||||||,G|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000467935|retained_intron|1/2|n.91+39G>C||||||,G|intron_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000443735|protein_coding|2/3|c.61+39G>C||||||WARNING_TRANSCRIPT_INCOMPLETE 22 37213062 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|PVALB|ENSG00000100362|transcript|ENST00000216200|protein_coding|1/4|c.-7-6A>G||||||,C|splice_region_variant&intron_variant|LOW|PVALB|ENSG00000100362|transcript|ENST00000443735|protein_coding|1/3|c.-7-6A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|5_prime_UTR_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000417718|protein_coding|1/4|c.-13A>G|||||13|,C|upstream_gene_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000406910|protein_coding||c.-3A>G|||||17|,C|upstream_gene_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000404171|protein_coding||c.-63A>G|||||1627|,C|intron_variant|MODIFIER|CITF22-24E5.1|ENSG00000234979|transcript|ENST00000417792|antisense|1/2|n.115+578T>C||||||,C|non_coding_exon_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000467935|retained_intron|1/3|n.18A>G|||||| 22 37257177 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000397147|protein_coding|1/9|c.-37G>A|||||37|,A|5_prime_UTR_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000447071|protein_coding|1/7|c.-261G>A|||||6295|WARNING_TRANSCRIPT_NO_STOP_CODON,A|5_prime_UTR_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000248899|protein_coding|1/10|c.-37G>A|||||37|,A|intron_variant|MODIFIER|CTA-833B7.2|ENSG00000183822|transcript|ENST00000330602|antisense|1/1|n.349+8958C>T||||||,A|intron_variant|MODIFIER|CTA-833B7.2|ENSG00000183822|transcript|ENST00000431290|antisense|1/1|n.289-2892C>T|||||| 22 37260081 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|NCF4|ENSG00000100365|transcript|ENST00000397147|protein_coding|1/8|c.33-6G>A||||||,A|splice_region_variant&intron_variant|LOW|NCF4|ENSG00000100365|transcript|ENST00000248899|protein_coding|1/9|c.33-6G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|helix|ENST00000397147|protein_coding|1/9|c.33-6G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|helix|ENST00000397147|protein_coding|2/9|c.33-6G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|helix|ENST00000248899|protein_coding|1/10|c.33-6G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|helix|ENST00000248899|protein_coding|2/10|c.33-6G>A||||||,A|intron_variant|MODIFIER|CTA-833B7.2|ENSG00000183822|transcript|ENST00000330602|antisense|1/1|n.349+6054C>T||||||,A|intron_variant|MODIFIER|CTA-833B7.2|ENSG00000183822|transcript|ENST00000431290|antisense|1/1|n.289-5796C>T||||||,A|intron_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000447071|protein_coding|1/6|c.-192-880G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 37260123 . G A . . ANN=A|synonymous_variant|LOW|NCF4|ENSG00000100365|transcript|ENST00000397147|protein_coding|2/9|c.69G>A|p.Ser23Ser|253/1641|69/1047|23/348||,A|synonymous_variant|LOW|NCF4|ENSG00000100365|transcript|ENST00000248899|protein_coding|2/10|c.69G>A|p.Ser23Ser|253/1396|69/1020|23/339||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|4/9|c.69G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|5/9|c.69G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|2/9|c.69G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|3/9|c.69G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|beta_strand|ENST00000397147|protein_coding|2/9|c.69G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|4/10|c.69G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|5/10|c.69G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|2/10|c.69G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|3/10|c.69G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|beta_strand|ENST00000248899|protein_coding|2/10|c.69G>A||||||,A|intron_variant|MODIFIER|CTA-833B7.2|ENSG00000183822|transcript|ENST00000330602|antisense|1/1|n.349+6012C>T||||||,A|intron_variant|MODIFIER|CTA-833B7.2|ENSG00000183822|transcript|ENST00000431290|antisense|1/1|n.289-5838C>T||||||,A|intron_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000447071|protein_coding|1/6|c.-192-838G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 37260144 . G A . . ANN=A|synonymous_variant|LOW|NCF4|ENSG00000100365|transcript|ENST00000397147|protein_coding|2/9|c.90G>A|p.Glu30Glu|274/1641|90/1047|30/348||,A|synonymous_variant|LOW|NCF4|ENSG00000100365|transcript|ENST00000248899|protein_coding|2/10|c.90G>A|p.Glu30Glu|274/1396|90/1020|30/339||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|4/9|c.90G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|5/9|c.90G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|2/9|c.90G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|3/9|c.90G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|beta_strand|ENST00000397147|protein_coding|2/9|c.90G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|4/10|c.90G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|5/10|c.90G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|2/10|c.90G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|3/10|c.90G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|beta_strand|ENST00000248899|protein_coding|2/10|c.90G>A||||||,A|intron_variant|MODIFIER|CTA-833B7.2|ENSG00000183822|transcript|ENST00000330602|antisense|1/1|n.349+5991C>T||||||,A|intron_variant|MODIFIER|CTA-833B7.2|ENSG00000183822|transcript|ENST00000431290|antisense|1/1|n.289-5859C>T||||||,A|intron_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000447071|protein_coding|1/6|c.-192-817G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 37260180 . G A . . ANN=A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|4/9|c.117+9G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|5/9|c.117+9G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|2/9|c.117+9G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|3/9|c.117+9G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|beta_strand|ENST00000397147|protein_coding|2/9|c.117+9G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|beta_strand|ENST00000397147|protein_coding|3/9|c.117+9G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|4/10|c.117+9G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|5/10|c.117+9G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|2/10|c.117+9G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|3/10|c.117+9G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|beta_strand|ENST00000248899|protein_coding|2/10|c.117+9G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|beta_strand|ENST00000248899|protein_coding|3/10|c.117+9G>A||||||,A|intron_variant|MODIFIER|CTA-833B7.2|ENSG00000183822|transcript|ENST00000330602|antisense|1/1|n.349+5955C>T||||||,A|intron_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000397147|protein_coding|2/8|c.117+9G>A||||||,A|intron_variant|MODIFIER|CTA-833B7.2|ENSG00000183822|transcript|ENST00000431290|antisense|1/1|n.289-5895C>T||||||,A|intron_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000447071|protein_coding|1/6|c.-192-781G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000248899|protein_coding|2/9|c.117+9G>A|||||| 22 37260197 . CCAA C . . ANN=|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|4/9|c.117+27_117+29delCAA||||||,|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|5/9|c.117+27_117+29delCAA||||||,|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|2/9|c.117+27_117+29delCAA||||||,|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|3/9|c.117+27_117+29delCAA||||||,|sequence_feature|LOW|NCF4|ENSG00000100365|beta_strand|ENST00000397147|protein_coding|2/9|c.117+27_117+29delCAA||||||,|sequence_feature|LOW|NCF4|ENSG00000100365|beta_strand|ENST00000397147|protein_coding|3/9|c.117+27_117+29delCAA||||||,|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|4/10|c.117+27_117+29delCAA||||||,|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|5/10|c.117+27_117+29delCAA||||||,|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|2/10|c.117+27_117+29delCAA||||||,|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|3/10|c.117+27_117+29delCAA||||||,|sequence_feature|LOW|NCF4|ENSG00000100365|beta_strand|ENST00000248899|protein_coding|2/10|c.117+27_117+29delCAA||||||,|sequence_feature|LOW|NCF4|ENSG00000100365|beta_strand|ENST00000248899|protein_coding|3/10|c.117+27_117+29delCAA||||||,|intron_variant|MODIFIER|CTA-833B7.2|ENSG00000183822|transcript|ENST00000330602|antisense|1/1|n.349+5935_349+5937delTTG||||||,|intron_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000397147|protein_coding|2/8|c.117+31_117+33delAAC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|CTA-833B7.2|ENSG00000183822|transcript|ENST00000431290|antisense|1/1|n.289-5915_289-5913delTTG||||||,|intron_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000447071|protein_coding|1/6|c.-192-759_-192-757delAAC||||||WARNING_TRANSCRIPT_NO_STOP_CODON&INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000248899|protein_coding|2/9|c.117+31_117+33delAAC||||||INFO_REALIGN_3_PRIME 22 37261015 . C T . . ANN=T|missense_variant|MODERATE|NCF4|ENSG00000100365|transcript|ENST00000397147|protein_coding|3/9|c.172C>T|p.Arg58Cys|356/1641|172/1047|58/348||,T|missense_variant|MODERATE|NCF4|ENSG00000100365|transcript|ENST00000248899|protein_coding|3/10|c.172C>T|p.Arg58Cys|356/1396|172/1020|58/339||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|NCF4|ENSG00000100365|transcript|ENST00000447071|protein_coding|2/7|c.-138C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|4/9|c.172C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|5/9|c.172C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|2/9|c.172C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|3/9|c.172C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|beta_strand|ENST00000397147|protein_coding|3/9|c.172C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|region_of_interest:Phosphatidylinositol_3-phosphate_binding|ENST00000397147|protein_coding|3/9|c.172C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|4/10|c.172C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|5/10|c.172C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|2/10|c.172C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|3/10|c.172C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|beta_strand|ENST00000248899|protein_coding|3/10|c.172C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|region_of_interest:Phosphatidylinositol_3-phosphate_binding|ENST00000248899|protein_coding|3/10|c.172C>T||||||,T|5_prime_UTR_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000447071|protein_coding|2/7|c.-138C>T|||||2457|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|CTA-833B7.2|ENSG00000183822|transcript|ENST00000330602|antisense|1/1|n.349+5120G>A||||||,T|intron_variant|MODIFIER|CTA-833B7.2|ENSG00000183822|transcript|ENST00000431290|antisense|1/1|n.288+5120G>A|||||| 22 37261021 . C T . . ANN=T|missense_variant|MODERATE|NCF4|ENSG00000100365|transcript|ENST00000397147|protein_coding|3/9|c.178C>T|p.Arg60Cys|362/1641|178/1047|60/348||,T|missense_variant|MODERATE|NCF4|ENSG00000100365|transcript|ENST00000248899|protein_coding|3/10|c.178C>T|p.Arg60Cys|362/1396|178/1020|60/339||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|NCF4|ENSG00000100365|transcript|ENST00000447071|protein_coding|2/7|c.-132C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|4/9|c.178C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|5/9|c.178C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|2/9|c.178C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|3/9|c.178C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|region_of_interest:Phosphatidylinositol_3-phosphate_binding|ENST00000397147|protein_coding|3/9|c.178C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|helix|ENST00000397147|protein_coding|3/9|c.178C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|4/10|c.178C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|5/10|c.178C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|2/10|c.178C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|3/10|c.178C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|region_of_interest:Phosphatidylinositol_3-phosphate_binding|ENST00000248899|protein_coding|3/10|c.178C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|helix|ENST00000248899|protein_coding|3/10|c.178C>T||||||,T|5_prime_UTR_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000447071|protein_coding|2/7|c.-132C>T|||||2451|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|CTA-833B7.2|ENSG00000183822|transcript|ENST00000330602|antisense|1/1|n.349+5114G>A||||||,T|intron_variant|MODIFIER|CTA-833B7.2|ENSG00000183822|transcript|ENST00000431290|antisense|1/1|n.288+5114G>A|||||| 22 37261083 . T C . . ANN=C|synonymous_variant|LOW|NCF4|ENSG00000100365|transcript|ENST00000397147|protein_coding|3/9|c.240T>C|p.Ser80Ser|424/1641|240/1047|80/348||,C|synonymous_variant|LOW|NCF4|ENSG00000100365|transcript|ENST00000248899|protein_coding|3/10|c.240T>C|p.Ser80Ser|424/1396|240/1020|80/339||,C|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|4/9|c.240T>C||||||,C|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|5/9|c.240T>C||||||,C|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|2/9|c.240T>C||||||,C|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|3/9|c.240T>C||||||,C|sequence_feature|LOW|NCF4|ENSG00000100365|helix|ENST00000397147|protein_coding|3/9|c.240T>C||||||,C|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|4/10|c.240T>C||||||,C|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|5/10|c.240T>C||||||,C|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|2/10|c.240T>C||||||,C|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|3/10|c.240T>C||||||,C|sequence_feature|LOW|NCF4|ENSG00000100365|helix|ENST00000248899|protein_coding|3/10|c.240T>C||||||,C|5_prime_UTR_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000447071|protein_coding|2/7|c.-70T>C|||||2389|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|CTA-833B7.2|ENSG00000183822|transcript|ENST00000330602|antisense|1/1|n.349+5052A>G||||||,C|intron_variant|MODIFIER|CTA-833B7.2|ENSG00000183822|transcript|ENST00000431290|antisense|1/1|n.288+5052A>G|||||| 22 37261097 . C A . . ANN=A|missense_variant|MODERATE|NCF4|ENSG00000100365|transcript|ENST00000397147|protein_coding|3/9|c.254C>A|p.Thr85Asn|438/1641|254/1047|85/348||,A|missense_variant|MODERATE|NCF4|ENSG00000100365|transcript|ENST00000248899|protein_coding|3/10|c.254C>A|p.Thr85Asn|438/1396|254/1020|85/339||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|4/9|c.254C>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|5/9|c.254C>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|2/9|c.254C>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|3/9|c.254C>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|4/10|c.254C>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|5/10|c.254C>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|2/10|c.254C>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|3/10|c.254C>A||||||,A|5_prime_UTR_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000447071|protein_coding|2/7|c.-56C>A|||||2375|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|CTA-833B7.2|ENSG00000183822|transcript|ENST00000330602|antisense|1/1|n.349+5038G>T||||||,A|intron_variant|MODIFIER|CTA-833B7.2|ENSG00000183822|transcript|ENST00000431290|antisense|1/1|n.288+5038G>T|||||| 22 37263533 . G A . . ANN=A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|4/9|c.342+29G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|5/9|c.342+29G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|2/9|c.342+29G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|3/9|c.342+29G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|helix|ENST00000397147|protein_coding|4/9|c.342+29G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|helix|ENST00000397147|protein_coding|5/9|c.342+29G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|4/10|c.342+29G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|5/10|c.342+29G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|2/10|c.342+29G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|3/10|c.342+29G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|helix|ENST00000248899|protein_coding|4/10|c.342+29G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|helix|ENST00000248899|protein_coding|5/10|c.342+29G>A||||||,A|upstream_gene_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000415063|protein_coding||c.-2G>A|||||4646|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|CTA-833B7.2|ENSG00000183822|transcript|ENST00000330602|antisense|1/1|n.349+2602C>T||||||,A|intron_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000397147|protein_coding|4/8|c.342+29G>A||||||,A|intron_variant|MODIFIER|CTA-833B7.2|ENSG00000183822|transcript|ENST00000431290|antisense|1/1|n.288+2602C>T||||||,A|intron_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000447071|protein_coding|3/6|c.33+29G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000248899|protein_coding|4/9|c.342+29G>A|||||| 22 37266425 . A G . . ANN=G|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|4/9|c.343-32A>G||||||,G|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|5/9|c.343-32A>G||||||,G|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|2/9|c.343-32A>G||||||,G|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|3/9|c.343-32A>G||||||,G|sequence_feature|LOW|NCF4|ENSG00000100365|helix|ENST00000397147|protein_coding|4/9|c.343-32A>G||||||,G|sequence_feature|LOW|NCF4|ENSG00000100365|helix|ENST00000397147|protein_coding|5/9|c.343-32A>G||||||,G|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|4/10|c.343-32A>G||||||,G|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|5/10|c.343-32A>G||||||,G|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|2/10|c.343-32A>G||||||,G|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|3/10|c.343-32A>G||||||,G|sequence_feature|LOW|NCF4|ENSG00000100365|helix|ENST00000248899|protein_coding|4/10|c.343-32A>G||||||,G|sequence_feature|LOW|NCF4|ENSG00000100365|helix|ENST00000248899|protein_coding|5/10|c.343-32A>G||||||,G|upstream_gene_variant|MODIFIER|CTA-833B7.2|ENSG00000183822|transcript|ENST00000431290|antisense||n.-1T>C|||||3|,G|upstream_gene_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000415063|protein_coding||c.-2A>G|||||1754|WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000397147|protein_coding|4/8|c.343-32A>G||||||,G|intron_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000447071|protein_coding|3/6|c.34-32A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000248899|protein_coding|4/9|c.343-32A>G||||||,G|non_coding_exon_variant|MODIFIER|CTA-833B7.2|ENSG00000183822|transcript|ENST00000330602|antisense|1/2|n.59T>C|||||| 22 37266453 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|NCF4|ENSG00000100365|transcript|ENST00000397147|protein_coding|4/8|c.343-4A>G||||||,G|splice_region_variant&intron_variant|LOW|NCF4|ENSG00000100365|transcript|ENST00000447071|protein_coding|3/6|c.34-4A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|splice_region_variant&intron_variant|LOW|NCF4|ENSG00000100365|transcript|ENST00000248899|protein_coding|4/9|c.343-4A>G||||||,G|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|4/9|c.343-4A>G||||||,G|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|5/9|c.343-4A>G||||||,G|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|2/9|c.343-4A>G||||||,G|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|3/9|c.343-4A>G||||||,G|sequence_feature|LOW|NCF4|ENSG00000100365|helix|ENST00000397147|protein_coding|4/9|c.343-4A>G||||||,G|sequence_feature|LOW|NCF4|ENSG00000100365|helix|ENST00000397147|protein_coding|5/9|c.343-4A>G||||||,G|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|4/10|c.343-4A>G||||||,G|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|5/10|c.343-4A>G||||||,G|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|2/10|c.343-4A>G||||||,G|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|3/10|c.343-4A>G||||||,G|sequence_feature|LOW|NCF4|ENSG00000100365|helix|ENST00000248899|protein_coding|4/10|c.343-4A>G||||||,G|sequence_feature|LOW|NCF4|ENSG00000100365|helix|ENST00000248899|protein_coding|5/10|c.343-4A>G||||||,G|upstream_gene_variant|MODIFIER|CTA-833B7.2|ENSG00000183822|transcript|ENST00000431290|antisense||n.-1T>C|||||31|,G|upstream_gene_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000415063|protein_coding||c.-2A>G|||||1726|WARNING_TRANSCRIPT_NO_START_CODON,G|non_coding_exon_variant|MODIFIER|CTA-833B7.2|ENSG00000183822|transcript|ENST00000330602|antisense|1/2|n.31T>C|||||| 22 37266504 . G A . . ANN=A|synonymous_variant|LOW|NCF4|ENSG00000100365|transcript|ENST00000397147|protein_coding|5/9|c.390G>A|p.Arg130Arg|574/1641|390/1047|130/348||,A|synonymous_variant|LOW|NCF4|ENSG00000100365|transcript|ENST00000447071|protein_coding|4/7|c.81G>A|p.Arg27Arg|489/906|81/498|27/165||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|NCF4|ENSG00000100365|transcript|ENST00000248899|protein_coding|5/10|c.390G>A|p.Arg130Arg|574/1396|390/1020|130/339||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|4/9|c.390G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|5/9|c.390G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|2/9|c.390G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|3/9|c.390G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|helix|ENST00000397147|protein_coding|5/9|c.390G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|4/10|c.390G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|5/10|c.390G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|2/10|c.390G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|3/10|c.390G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|helix|ENST00000248899|protein_coding|5/10|c.390G>A||||||,A|upstream_gene_variant|MODIFIER|CTA-833B7.2|ENSG00000183822|transcript|ENST00000330602|antisense||n.-1C>T|||||21|,A|upstream_gene_variant|MODIFIER|CTA-833B7.2|ENSG00000183822|transcript|ENST00000431290|antisense||n.-1C>T|||||82|,A|upstream_gene_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000415063|protein_coding||c.-2G>A|||||1675|WARNING_TRANSCRIPT_NO_START_CODON 22 37266572 . G A . . ANN=A|missense_variant|MODERATE|NCF4|ENSG00000100365|transcript|ENST00000397147|protein_coding|5/9|c.458G>A|p.Arg153His|642/1641|458/1047|153/348||,A|missense_variant|MODERATE|NCF4|ENSG00000100365|transcript|ENST00000447071|protein_coding|4/7|c.149G>A|p.Arg50His|557/906|149/498|50/165||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|NCF4|ENSG00000100365|transcript|ENST00000248899|protein_coding|5/10|c.458G>A|p.Arg153His|642/1396|458/1020|153/339||,A|upstream_gene_variant|MODIFIER|CTA-833B7.2|ENSG00000183822|transcript|ENST00000330602|antisense||n.-1C>T|||||89|,A|upstream_gene_variant|MODIFIER|CTA-833B7.2|ENSG00000183822|transcript|ENST00000431290|antisense||n.-1C>T|||||150|,A|upstream_gene_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000415063|protein_coding||c.-2G>A|||||1607|WARNING_TRANSCRIPT_NO_START_CODON 22 37266604 . G C . . ANN=C|upstream_gene_variant|MODIFIER|CTA-833B7.2|ENSG00000183822|transcript|ENST00000330602|antisense||n.-1C>G|||||121|,C|upstream_gene_variant|MODIFIER|CTA-833B7.2|ENSG00000183822|transcript|ENST00000431290|antisense||n.-1C>G|||||182|,C|upstream_gene_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000415063|protein_coding||c.-2G>C|||||1575|WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000397147|protein_coding|5/8|c.470+20G>C||||||,C|intron_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000447071|protein_coding|4/6|c.161+20G>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000248899|protein_coding|5/9|c.470+20G>C|||||| 22 37267767 . A G . . ANN=G|sequence_feature|LOW|NCF4|ENSG00000100365|domain:SH3|ENST00000397147|protein_coding|8/9|c.528+16A>G||||||,G|sequence_feature|LOW|NCF4|ENSG00000100365|domain:SH3|ENST00000397147|protein_coding|6/9|c.528+16A>G||||||,G|sequence_feature|LOW|NCF4|ENSG00000100365|domain:SH3|ENST00000397147|protein_coding|7/9|c.528+16A>G||||||,G|sequence_feature|LOW|NCF4|ENSG00000100365|beta_strand|ENST00000397147|protein_coding|6/9|c.528+16A>G||||||,G|sequence_feature|LOW|NCF4|ENSG00000100365|beta_strand|ENST00000397147|protein_coding|7/9|c.528+16A>G||||||,G|sequence_feature|LOW|NCF4|ENSG00000100365|domain:SH3|ENST00000248899|protein_coding|6/10|c.528+16A>G||||||,G|sequence_feature|LOW|NCF4|ENSG00000100365|domain:SH3|ENST00000248899|protein_coding|7/10|c.528+16A>G||||||,G|sequence_feature|LOW|NCF4|ENSG00000100365|domain:SH3|ENST00000248899|protein_coding|8/10|c.528+16A>G||||||,G|sequence_feature|LOW|NCF4|ENSG00000100365|beta_strand|ENST00000248899|protein_coding|6/10|c.528+16A>G||||||,G|sequence_feature|LOW|NCF4|ENSG00000100365|beta_strand|ENST00000248899|protein_coding|7/10|c.528+16A>G||||||,G|upstream_gene_variant|MODIFIER|CTA-833B7.2|ENSG00000183822|transcript|ENST00000330602|antisense||n.-1T>C|||||1284|,G|upstream_gene_variant|MODIFIER|CTA-833B7.2|ENSG00000183822|transcript|ENST00000431290|antisense||n.-1T>C|||||1345|,G|upstream_gene_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000415063|protein_coding||c.-2A>G|||||412|WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000397147|protein_coding|6/8|c.528+16A>G||||||,G|intron_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000447071|protein_coding|5/6|c.219+16A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000248899|protein_coding|6/9|c.528+16A>G|||||| 22 37267768 . C A . . ANN=A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:SH3|ENST00000397147|protein_coding|8/9|c.528+17C>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:SH3|ENST00000397147|protein_coding|6/9|c.528+17C>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:SH3|ENST00000397147|protein_coding|7/9|c.528+17C>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|beta_strand|ENST00000397147|protein_coding|6/9|c.528+17C>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|beta_strand|ENST00000397147|protein_coding|7/9|c.528+17C>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:SH3|ENST00000248899|protein_coding|6/10|c.528+17C>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:SH3|ENST00000248899|protein_coding|7/10|c.528+17C>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:SH3|ENST00000248899|protein_coding|8/10|c.528+17C>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|beta_strand|ENST00000248899|protein_coding|6/10|c.528+17C>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|beta_strand|ENST00000248899|protein_coding|7/10|c.528+17C>A||||||,A|upstream_gene_variant|MODIFIER|CTA-833B7.2|ENSG00000183822|transcript|ENST00000330602|antisense||n.-1G>T|||||1285|,A|upstream_gene_variant|MODIFIER|CTA-833B7.2|ENSG00000183822|transcript|ENST00000431290|antisense||n.-1G>T|||||1346|,A|upstream_gene_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000415063|protein_coding||c.-2C>A|||||411|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000397147|protein_coding|6/8|c.528+17C>A||||||,A|intron_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000447071|protein_coding|5/6|c.219+17C>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000248899|protein_coding|6/9|c.528+17C>A|||||| 22 37267769 . G C . . ANN=C|sequence_feature|LOW|NCF4|ENSG00000100365|domain:SH3|ENST00000397147|protein_coding|8/9|c.528+18G>C||||||,C|sequence_feature|LOW|NCF4|ENSG00000100365|domain:SH3|ENST00000397147|protein_coding|6/9|c.528+18G>C||||||,C|sequence_feature|LOW|NCF4|ENSG00000100365|domain:SH3|ENST00000397147|protein_coding|7/9|c.528+18G>C||||||,C|sequence_feature|LOW|NCF4|ENSG00000100365|beta_strand|ENST00000397147|protein_coding|6/9|c.528+18G>C||||||,C|sequence_feature|LOW|NCF4|ENSG00000100365|beta_strand|ENST00000397147|protein_coding|7/9|c.528+18G>C||||||,C|sequence_feature|LOW|NCF4|ENSG00000100365|domain:SH3|ENST00000248899|protein_coding|6/10|c.528+18G>C||||||,C|sequence_feature|LOW|NCF4|ENSG00000100365|domain:SH3|ENST00000248899|protein_coding|7/10|c.528+18G>C||||||,C|sequence_feature|LOW|NCF4|ENSG00000100365|domain:SH3|ENST00000248899|protein_coding|8/10|c.528+18G>C||||||,C|sequence_feature|LOW|NCF4|ENSG00000100365|beta_strand|ENST00000248899|protein_coding|6/10|c.528+18G>C||||||,C|sequence_feature|LOW|NCF4|ENSG00000100365|beta_strand|ENST00000248899|protein_coding|7/10|c.528+18G>C||||||,C|upstream_gene_variant|MODIFIER|CTA-833B7.2|ENSG00000183822|transcript|ENST00000330602|antisense||n.-1C>G|||||1286|,C|upstream_gene_variant|MODIFIER|CTA-833B7.2|ENSG00000183822|transcript|ENST00000431290|antisense||n.-1C>G|||||1347|,C|upstream_gene_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000415063|protein_coding||c.-2G>C|||||410|WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000397147|protein_coding|6/8|c.528+18G>C||||||,C|intron_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000447071|protein_coding|5/6|c.219+18G>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000248899|protein_coding|6/9|c.528+18G>C|||||| 22 37268501 . A G . . ANN=G|sequence_feature|LOW|NCF4|ENSG00000100365|domain:SH3|ENST00000397147|protein_coding|8/9|c.627+34A>G||||||,G|sequence_feature|LOW|NCF4|ENSG00000100365|domain:SH3|ENST00000397147|protein_coding|6/9|c.627+34A>G||||||,G|sequence_feature|LOW|NCF4|ENSG00000100365|domain:SH3|ENST00000397147|protein_coding|7/9|c.627+34A>G||||||,G|sequence_feature|LOW|NCF4|ENSG00000100365|beta_strand|ENST00000397147|protein_coding|8/9|c.627+34A>G||||||,G|sequence_feature|LOW|NCF4|ENSG00000100365|beta_strand|ENST00000397147|protein_coding|7/9|c.627+34A>G||||||,G|sequence_feature|LOW|NCF4|ENSG00000100365|domain:SH3|ENST00000248899|protein_coding|6/10|c.627+34A>G||||||,G|sequence_feature|LOW|NCF4|ENSG00000100365|domain:SH3|ENST00000248899|protein_coding|7/10|c.627+34A>G||||||,G|sequence_feature|LOW|NCF4|ENSG00000100365|domain:SH3|ENST00000248899|protein_coding|8/10|c.627+34A>G||||||,G|sequence_feature|LOW|NCF4|ENSG00000100365|beta_strand|ENST00000248899|protein_coding|7/10|c.627+34A>G||||||,G|sequence_feature|LOW|NCF4|ENSG00000100365|beta_strand|ENST00000248899|protein_coding|8/10|c.627+34A>G||||||,G|upstream_gene_variant|MODIFIER|CTA-833B7.2|ENSG00000183822|transcript|ENST00000330602|antisense||n.-1T>C|||||2018|,G|upstream_gene_variant|MODIFIER|CTA-833B7.2|ENSG00000183822|transcript|ENST00000431290|antisense||n.-1T>C|||||2079|,G|intron_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000397147|protein_coding|7/8|c.627+34A>G||||||,G|intron_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000447071|protein_coding|6/6|c.318+34A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000248899|protein_coding|7/9|c.627+34A>G||||||,G|intron_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000415063|protein_coding|2/3|c.216+34A>G||||||WARNING_TRANSCRIPT_NO_START_CODON 22 37271672 . G A . . ANN=A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:SH3|ENST00000397147|protein_coding|8/9|c.628-23G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:SH3|ENST00000397147|protein_coding|6/9|c.628-23G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:SH3|ENST00000397147|protein_coding|7/9|c.628-23G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|beta_strand|ENST00000397147|protein_coding|8/9|c.628-23G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|beta_strand|ENST00000397147|protein_coding|7/9|c.628-23G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:SH3|ENST00000248899|protein_coding|6/10|c.628-23G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:SH3|ENST00000248899|protein_coding|7/10|c.628-23G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:SH3|ENST00000248899|protein_coding|8/10|c.628-23G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|beta_strand|ENST00000248899|protein_coding|7/10|c.628-23G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|beta_strand|ENST00000248899|protein_coding|8/10|c.628-23G>A||||||,A|intron_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000397147|protein_coding|7/8|c.628-23G>A||||||,A|intron_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000447071|protein_coding|6/6|c.319-23G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000248899|protein_coding|7/9|c.628-23G>A||||||,A|intron_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000415063|protein_coding|2/3|c.217-23G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 37271681 . C A . . ANN=A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:SH3|ENST00000397147|protein_coding|8/9|c.628-14C>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:SH3|ENST00000397147|protein_coding|6/9|c.628-14C>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:SH3|ENST00000397147|protein_coding|7/9|c.628-14C>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|beta_strand|ENST00000397147|protein_coding|8/9|c.628-14C>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|beta_strand|ENST00000397147|protein_coding|7/9|c.628-14C>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:SH3|ENST00000248899|protein_coding|6/10|c.628-14C>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:SH3|ENST00000248899|protein_coding|7/10|c.628-14C>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:SH3|ENST00000248899|protein_coding|8/10|c.628-14C>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|beta_strand|ENST00000248899|protein_coding|7/10|c.628-14C>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|beta_strand|ENST00000248899|protein_coding|8/10|c.628-14C>A||||||,A|intron_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000397147|protein_coding|7/8|c.628-14C>A||||||,A|intron_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000447071|protein_coding|6/6|c.319-14C>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000248899|protein_coding|7/9|c.628-14C>A||||||,A|intron_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000415063|protein_coding|2/3|c.217-14C>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 37271715 . G A . . ANN=A|synonymous_variant|LOW|NCF4|ENSG00000100365|transcript|ENST00000397147|protein_coding|8/9|c.648G>A|p.Thr216Thr|832/1641|648/1047|216/348||,A|synonymous_variant|LOW|NCF4|ENSG00000100365|transcript|ENST00000447071|protein_coding|7/7|c.339G>A|p.Thr113Thr|747/906|339/498|113/165||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|NCF4|ENSG00000100365|transcript|ENST00000248899|protein_coding|8/10|c.648G>A|p.Thr216Thr|832/1396|648/1020|216/339||,A|synonymous_variant|LOW|NCF4|ENSG00000100365|transcript|ENST00000415063|protein_coding|3/4|c.237G>A|p.Thr79Thr|238/796|237/636|79/211||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:SH3|ENST00000397147|protein_coding|8/9|c.648G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:SH3|ENST00000397147|protein_coding|6/9|c.648G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:SH3|ENST00000397147|protein_coding|7/9|c.648G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|beta_strand|ENST00000397147|protein_coding|8/9|c.648G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:SH3|ENST00000248899|protein_coding|6/10|c.648G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:SH3|ENST00000248899|protein_coding|7/10|c.648G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:SH3|ENST00000248899|protein_coding|8/10|c.648G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|beta_strand|ENST00000248899|protein_coding|8/10|c.648G>A|||||| 22 37271772 . C T . . ANN=T|synonymous_variant|LOW|NCF4|ENSG00000100365|transcript|ENST00000397147|protein_coding|8/9|c.705C>T|p.Asp235Asp|889/1641|705/1047|235/348||,T|synonymous_variant|LOW|NCF4|ENSG00000100365|transcript|ENST00000447071|protein_coding|7/7|c.396C>T|p.Asp132Asp|804/906|396/498|132/165||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|NCF4|ENSG00000100365|transcript|ENST00000248899|protein_coding|8/10|c.705C>T|p.Asp235Asp|889/1396|705/1020|235/339||,T|synonymous_variant|LOW|NCF4|ENSG00000100365|transcript|ENST00000415063|protein_coding|3/4|c.294C>T|p.Asp98Asp|295/796|294/636|98/211||WARNING_TRANSCRIPT_NO_START_CODON 22 37271802 . C T . . ANN=T|synonymous_variant|LOW|NCF4|ENSG00000100365|transcript|ENST00000397147|protein_coding|8/9|c.735C>T|p.Tyr245Tyr|919/1641|735/1047|245/348||,T|synonymous_variant|LOW|NCF4|ENSG00000100365|transcript|ENST00000447071|protein_coding|7/7|c.426C>T|p.Tyr142Tyr|834/906|426/498|142/165||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|NCF4|ENSG00000100365|transcript|ENST00000248899|protein_coding|8/10|c.735C>T|p.Tyr245Tyr|919/1396|735/1020|245/339||,T|synonymous_variant|LOW|NCF4|ENSG00000100365|transcript|ENST00000415063|protein_coding|3/4|c.324C>T|p.Tyr108Tyr|325/796|324/636|108/211||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|NCF4|ENSG00000100365|beta_strand|ENST00000397147|protein_coding|8/9|c.735C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|domain:OPR|ENST00000248899|protein_coding|10/10|c.735C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|domain:OPR|ENST00000248899|protein_coding|8/10|c.735C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|domain:OPR|ENST00000248899|protein_coding|9/10|c.735C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|beta_strand|ENST00000248899|protein_coding|8/10|c.735C>T|||||| 22 37271882 . T C . . ANN=C|missense_variant|MODERATE|NCF4|ENSG00000100365|transcript|ENST00000397147|protein_coding|8/9|c.815T>C|p.Leu272Pro|999/1641|815/1047|272/348||,C|missense_variant|MODERATE|NCF4|ENSG00000100365|transcript|ENST00000415063|protein_coding|3/4|c.404T>C|p.Leu135Pro|405/796|404/636|135/211||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|NCF4|ENSG00000100365|domain:OPR|ENST00000248899|protein_coding|10/10|c.758+57T>C||||||,C|sequence_feature|LOW|NCF4|ENSG00000100365|domain:OPR|ENST00000248899|protein_coding|8/10|c.758+57T>C||||||,C|sequence_feature|LOW|NCF4|ENSG00000100365|domain:OPR|ENST00000248899|protein_coding|9/10|c.758+57T>C||||||,C|sequence_feature|LOW|NCF4|ENSG00000100365|beta_strand|ENST00000248899|protein_coding|8/10|c.758+57T>C||||||,C|sequence_feature|LOW|NCF4|ENSG00000100365|beta_strand|ENST00000248899|protein_coding|9/10|c.758+57T>C||||||,C|downstream_gene_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000447071|protein_coding||c.*906T>C|||||8|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000248899|protein_coding|8/9|c.758+57T>C|||||| 22 37271906 . G C . . ANN=C|missense_variant|MODERATE|NCF4|ENSG00000100365|transcript|ENST00000397147|protein_coding|8/9|c.839G>C|p.Gly280Ala|1023/1641|839/1047|280/348||,C|missense_variant|MODERATE|NCF4|ENSG00000100365|transcript|ENST00000415063|protein_coding|3/4|c.428G>C|p.Gly143Ala|429/796|428/636|143/211||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|NCF4|ENSG00000100365|domain:OPR|ENST00000248899|protein_coding|10/10|c.758+81G>C||||||,C|sequence_feature|LOW|NCF4|ENSG00000100365|domain:OPR|ENST00000248899|protein_coding|8/10|c.758+81G>C||||||,C|sequence_feature|LOW|NCF4|ENSG00000100365|domain:OPR|ENST00000248899|protein_coding|9/10|c.758+81G>C||||||,C|sequence_feature|LOW|NCF4|ENSG00000100365|beta_strand|ENST00000248899|protein_coding|8/10|c.758+81G>C||||||,C|sequence_feature|LOW|NCF4|ENSG00000100365|beta_strand|ENST00000248899|protein_coding|9/10|c.758+81G>C||||||,C|downstream_gene_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000447071|protein_coding||c.*906G>C|||||32|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000248899|protein_coding|8/9|c.758+81G>C|||||| 22 37272023 . C T . . ANN=T|missense_variant|MODERATE|NCF4|ENSG00000100365|transcript|ENST00000397147|protein_coding|8/9|c.956C>T|p.Pro319Leu|1140/1641|956/1047|319/348||,T|missense_variant|MODERATE|NCF4|ENSG00000100365|transcript|ENST00000415063|protein_coding|3/4|c.545C>T|p.Pro182Leu|546/796|545/636|182/211||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|NCF4|ENSG00000100365|domain:OPR|ENST00000248899|protein_coding|10/10|c.759-48C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|domain:OPR|ENST00000248899|protein_coding|8/10|c.759-48C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|domain:OPR|ENST00000248899|protein_coding|9/10|c.759-48C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|beta_strand|ENST00000248899|protein_coding|8/10|c.759-48C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|beta_strand|ENST00000248899|protein_coding|9/10|c.759-48C>T||||||,T|downstream_gene_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000447071|protein_coding||c.*906C>T|||||149|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000248899|protein_coding|8/9|c.759-48C>T|||||| 22 37272141 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|NCF4|ENSG00000100365|transcript|ENST00000397147|protein_coding|8/8|c.*22+5G>A||||||,A|splice_region_variant&intron_variant|LOW|NCF4|ENSG00000100365|transcript|ENST00000248899|protein_coding|9/9|c.824+5G>A||||||,A|splice_region_variant&intron_variant|LOW|NCF4|ENSG00000100365|transcript|ENST00000415063|protein_coding|3/3|c.*22+5G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:OPR|ENST00000248899|protein_coding|10/10|c.824+5G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:OPR|ENST00000248899|protein_coding|8/10|c.824+5G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:OPR|ENST00000248899|protein_coding|9/10|c.824+5G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|helix|ENST00000248899|protein_coding|10/10|c.824+5G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|helix|ENST00000248899|protein_coding|9/10|c.824+5G>A||||||,A|downstream_gene_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000447071|protein_coding||c.*906G>A|||||267|WARNING_TRANSCRIPT_NO_STOP_CODON 22 37272173 . T C . . ANN=C|sequence_feature|LOW|NCF4|ENSG00000100365|domain:OPR|ENST00000248899|protein_coding|10/10|c.824+37T>C||||||,C|sequence_feature|LOW|NCF4|ENSG00000100365|domain:OPR|ENST00000248899|protein_coding|8/10|c.824+37T>C||||||,C|sequence_feature|LOW|NCF4|ENSG00000100365|domain:OPR|ENST00000248899|protein_coding|9/10|c.824+37T>C||||||,C|sequence_feature|LOW|NCF4|ENSG00000100365|helix|ENST00000248899|protein_coding|10/10|c.824+37T>C||||||,C|sequence_feature|LOW|NCF4|ENSG00000100365|helix|ENST00000248899|protein_coding|9/10|c.824+37T>C||||||,C|downstream_gene_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000447071|protein_coding||c.*906T>C|||||299|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000397147|protein_coding|8/8|c.*22+37T>C||||||,C|intron_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000248899|protein_coding|9/9|c.824+37T>C||||||,C|intron_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000415063|protein_coding|3/3|c.*22+37T>C||||||WARNING_TRANSCRIPT_NO_START_CODON 22 37272186 . G A . . ANN=A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:OPR|ENST00000248899|protein_coding|10/10|c.824+50G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:OPR|ENST00000248899|protein_coding|8/10|c.824+50G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:OPR|ENST00000248899|protein_coding|9/10|c.824+50G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|helix|ENST00000248899|protein_coding|10/10|c.824+50G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|helix|ENST00000248899|protein_coding|9/10|c.824+50G>A||||||,A|downstream_gene_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000447071|protein_coding||c.*906G>A|||||312|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000397147|protein_coding|8/8|c.*22+50G>A||||||,A|intron_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000248899|protein_coding|9/9|c.824+50G>A||||||,A|intron_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000415063|protein_coding|3/3|c.*22+50G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 37273630 . C T . . ANN=T|sequence_feature|LOW|NCF4|ENSG00000100365|domain:OPR|ENST00000248899|protein_coding|10/10|c.825-40C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|domain:OPR|ENST00000248899|protein_coding|8/10|c.825-40C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|domain:OPR|ENST00000248899|protein_coding|9/10|c.825-40C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|helix|ENST00000248899|protein_coding|10/10|c.825-40C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|helix|ENST00000248899|protein_coding|9/10|c.825-40C>T||||||,T|downstream_gene_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000447071|protein_coding||c.*906C>T|||||1756|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000397147|protein_coding|8/8|c.*23-40C>T||||||,T|intron_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000248899|protein_coding|9/9|c.825-40C>T||||||,T|intron_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000415063|protein_coding|3/3|c.*23-40C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 37273724 . T A . . ANN=A|missense_variant|MODERATE|NCF4|ENSG00000100365|transcript|ENST00000248899|protein_coding|10/10|c.879T>A|p.Asp293Glu|1063/1396|879/1020|293/339||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:OPR|ENST00000248899|protein_coding|10/10|c.879T>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:OPR|ENST00000248899|protein_coding|8/10|c.879T>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:OPR|ENST00000248899|protein_coding|9/10|c.879T>A||||||,A|3_prime_UTR_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000397147|protein_coding|9/9|c.*77T>A|||||1610|,A|3_prime_UTR_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000415063|protein_coding|4/4|c.*77T>A|||||1610|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000447071|protein_coding||c.*906T>A|||||1850|WARNING_TRANSCRIPT_NO_STOP_CODON 22 37273742 . G A . . ANN=A|synonymous_variant|LOW|NCF4|ENSG00000100365|transcript|ENST00000248899|protein_coding|10/10|c.897G>A|p.Ser299Ser|1081/1396|897/1020|299/339||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:OPR|ENST00000248899|protein_coding|10/10|c.897G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:OPR|ENST00000248899|protein_coding|8/10|c.897G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:OPR|ENST00000248899|protein_coding|9/10|c.897G>A||||||,A|3_prime_UTR_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000397147|protein_coding|9/9|c.*95G>A|||||1628|,A|3_prime_UTR_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000415063|protein_coding|4/4|c.*95G>A|||||1628|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000447071|protein_coding||c.*906G>A|||||1868|WARNING_TRANSCRIPT_NO_STOP_CODON 22 37273757 . G A . . ANN=A|synonymous_variant|LOW|NCF4|ENSG00000100365|transcript|ENST00000248899|protein_coding|10/10|c.912G>A|p.Ala304Ala|1096/1396|912/1020|304/339||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:OPR|ENST00000248899|protein_coding|10/10|c.912G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:OPR|ENST00000248899|protein_coding|8/10|c.912G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:OPR|ENST00000248899|protein_coding|9/10|c.912G>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|helix|ENST00000248899|protein_coding|10/10|c.912G>A||||||,A|3_prime_UTR_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000397147|protein_coding|9/9|c.*110G>A|||||1643|,A|3_prime_UTR_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000415063|protein_coding|4/4|c.*110G>A|||||1643|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000447071|protein_coding||c.*906G>A|||||1883|WARNING_TRANSCRIPT_NO_STOP_CODON 22 37273779 . G T . . ANN=T|missense_variant|MODERATE|NCF4|ENSG00000100365|transcript|ENST00000248899|protein_coding|10/10|c.934G>T|p.Gly312Cys|1118/1396|934/1020|312/339||,T|sequence_feature|LOW|NCF4|ENSG00000100365|domain:OPR|ENST00000248899|protein_coding|10/10|c.934G>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|domain:OPR|ENST00000248899|protein_coding|8/10|c.934G>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|domain:OPR|ENST00000248899|protein_coding|9/10|c.934G>T||||||,T|3_prime_UTR_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000397147|protein_coding|9/9|c.*132G>T|||||1665|,T|3_prime_UTR_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000415063|protein_coding|4/4|c.*132G>T|||||1665|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000447071|protein_coding||c.*906G>T|||||1905|WARNING_TRANSCRIPT_NO_STOP_CODON 22 37273805 . C T . . ANN=T|splice_region_variant|LOW|NCF4|ENSG00000100365|transcript|ENST00000415063|protein_coding|4/4|c.*158C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|NCF4|ENSG00000100365|transcript|ENST00000248899|protein_coding|10/10|c.960C>T|p.Phe320Phe|1144/1396|960/1020|320/339||,T|sequence_feature|LOW|NCF4|ENSG00000100365|domain:OPR|ENST00000248899|protein_coding|10/10|c.960C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|domain:OPR|ENST00000248899|protein_coding|8/10|c.960C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|domain:OPR|ENST00000248899|protein_coding|9/10|c.960C>T||||||,T|3_prime_UTR_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000397147|protein_coding|9/9|c.*158C>T|||||1691|,T|3_prime_UTR_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000415063|protein_coding|4/4|c.*158C>T|||||1691|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000447071|protein_coding||c.*906C>T|||||1931|WARNING_TRANSCRIPT_NO_STOP_CODON 22 37273856 . G A . . ANN=A|synonymous_variant|LOW|NCF4|ENSG00000100365|transcript|ENST00000248899|protein_coding|10/10|c.1011G>A|p.Thr337Thr|1195/1396|1011/1020|337/339||,A|3_prime_UTR_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000397147|protein_coding|9/9|c.*209G>A|||||1742|,A|downstream_gene_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000447071|protein_coding||c.*906G>A|||||1982|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000415063|protein_coding||c.*637G>A|||||50|WARNING_TRANSCRIPT_NO_START_CODON 22 37318306 . C T . . ANN=T|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|2/14|c.57C>T|p.Arg19Arg|274/4866|57/2712|19/903||,T|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|2/14|c.57C>T|p.Arg19Arg|279/4863|57/2694|19/897||,T|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|1/13|c.57C>T|p.Arg19Arg|131/2895|57/2712|19/903||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.57C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.57C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.57C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.57C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.57C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.57C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.57C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.57C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.57C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.57C>T||||||,T|upstream_gene_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding||c.-284C>T|||||348|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding||c.-39C>T|||||1493| 22 37318309 . C A . . ANN=A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|2/14|c.60C>A|p.Ser20Arg|277/4866|60/2712|20/903||,A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|2/14|c.60C>A|p.Ser20Arg|282/4863|60/2694|20/897||,A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|1/13|c.60C>A|p.Ser20Arg|134/2895|60/2712|20/903||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.60C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.60C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.60C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.60C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.60C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.60C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.60C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.60C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.60C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.60C>A||||||,A|upstream_gene_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding||c.-284C>A|||||345|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding||c.-39C>A|||||1490| 22 37318318 . G A . . ANN=A|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|2/14|c.69G>A|p.Gly23Gly|286/4866|69/2712|23/903||,A|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|2/14|c.69G>A|p.Gly23Gly|291/4863|69/2694|23/897||,A|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|1/13|c.69G>A|p.Gly23Gly|143/2895|69/2712|23/903||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.69G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.69G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.69G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.69G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.69G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.69G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.69G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.69G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.69G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.69G>A||||||,A|upstream_gene_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding||c.-284G>A|||||336|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding||c.-39G>A|||||1481| 22 37319256 . G A . . ANN=A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.77-30G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.77-30G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.77-30G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.77-30G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.77-30G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.77-30G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.77-30G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.77-30G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.77-30G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.77-30G>A||||||,A|upstream_gene_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding||c.-39G>A|||||543|,A|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|2/13|c.77-30G>A||||||,A|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|2/13|c.77-30G>A||||||,A|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|1/12|c.77-30G>A||||||,A|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding|1/6|c.-164-30G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 37319293 . C T . . ANN=T|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|3/14|c.84C>T|p.Ile28Ile|301/4866|84/2712|28/903||,T|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|3/14|c.84C>T|p.Ile28Ile|306/4863|84/2694|28/897||,T|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|2/13|c.84C>T|p.Ile28Ile|158/2895|84/2712|28/903||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.84C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.84C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.84C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.84C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.84C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.84C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.84C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.84C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.84C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.84C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|helix|ENST00000403662|protein_coding|3/14|c.84C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|helix|ENST00000406230|protein_coding|2/13|c.84C>T||||||,T|5_prime_UTR_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding|2/7|c.-157C>T|||||2776|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding||c.-39C>T|||||506| 22 37319326 . C T . . ANN=T|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|3/14|c.117C>T|p.Tyr39Tyr|334/4866|117/2712|39/903||,T|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|3/14|c.117C>T|p.Tyr39Tyr|339/4863|117/2694|39/897||,T|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|2/13|c.117C>T|p.Tyr39Tyr|191/2895|117/2712|39/903||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.117C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.117C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.117C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.117C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.117C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.117C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.117C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.117C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.117C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.117C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|disulfide_bond|ENST00000403662|protein_coding|3/14|c.117C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|beta_strand|ENST00000403662|protein_coding|3/14|c.117C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|disulfide_bond|ENST00000406230|protein_coding|2/13|c.117C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|beta_strand|ENST00000406230|protein_coding|2/13|c.117C>T||||||,T|5_prime_UTR_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding|2/7|c.-124C>T|||||2743|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding||c.-39C>T|||||473| 22 37319397 . G T . . ANN=T|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|3/14|c.188G>T|p.Arg63Leu|405/4866|188/2712|63/903||,T|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|3/14|c.188G>T|p.Arg63Leu|410/4863|188/2694|63/897||,T|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|2/13|c.188G>T|p.Arg63Leu|262/2895|188/2712|63/903||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.188G>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.188G>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.188G>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.188G>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.188G>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.188G>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.188G>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.188G>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.188G>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.188G>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|beta_strand|ENST00000403662|protein_coding|3/14|c.188G>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|beta_strand|ENST00000406230|protein_coding|2/13|c.188G>T||||||,T|5_prime_UTR_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding|2/7|c.-53G>T|||||2672|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding||c.-39G>T|||||402| 22 37319425 . G T . . ANN=T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.200+16G>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.200+16G>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.200+16G>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.200+16G>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.200+16G>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.200+16G>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.200+16G>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.200+16G>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.200+16G>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.200+16G>T||||||,T|upstream_gene_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding||c.-39G>T|||||374|,T|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|3/13|c.200+16G>T||||||,T|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|3/13|c.200+16G>T||||||,T|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|2/12|c.200+16G>T||||||,T|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding|2/6|c.-41+16G>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 37319436 . C G . . ANN=G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.200+27C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.200+27C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.200+27C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.200+27C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.200+27C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.200+27C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.200+27C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.200+27C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.200+27C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.200+27C>G||||||,G|upstream_gene_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding||c.-39C>G|||||363|,G|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|3/13|c.200+27C>G||||||,G|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|3/13|c.200+27C>G||||||,G|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|2/12|c.200+27C>G||||||,G|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding|2/6|c.-41+27C>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 37322012 . G A . . ANN=A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.201-17G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.201-17G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.201-17G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.201-17G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.201-17G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.201-17G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.201-17G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.201-17G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.201-17G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.201-17G>A||||||,A|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|3/13|c.201-17G>A||||||,A|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|3/13|c.201-17G>A||||||,A|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|2/12|c.201-17G>A||||||,A|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding|2/6|c.-40-17G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|1/11|c.24-17G>A|||||| 22 37322074 . C G . . ANN=G|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|4/14|c.246C>G|p.Pro82Pro|463/4866|246/2712|82/903||,G|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|4/14|c.246C>G|p.Pro82Pro|468/4863|246/2694|82/897||,G|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|3/13|c.246C>G|p.Pro82Pro|320/2895|246/2712|82/903||,G|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding|3/7|c.6C>G|p.Pro2Pro|289/969|6/686|2/227||WARNING_TRANSCRIPT_INCOMPLETE,G|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|2/12|c.69C>G|p.Pro23Pro|107/2765|69/2535|23/844||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.246C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.246C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.246C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.246C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.246C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.246C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.246C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.246C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.246C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.246C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|disulfide_bond|ENST00000403662|protein_coding|4/14|c.246C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|disulfide_bond|ENST00000406230|protein_coding|3/13|c.246C>G|||||| 22 37322095 . C T . . ANN=T|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|4/14|c.267C>T|p.Pro89Pro|484/4866|267/2712|89/903||,T|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|4/14|c.267C>T|p.Pro89Pro|489/4863|267/2694|89/897||,T|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|3/13|c.267C>T|p.Pro89Pro|341/2895|267/2712|89/903||,T|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding|3/7|c.27C>T|p.Pro9Pro|310/969|27/686|9/227||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|2/12|c.90C>T|p.Pro30Pro|128/2765|90/2535|30/844||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.267C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.267C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.267C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.267C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.267C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.267C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.267C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.267C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.267C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.267C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|disulfide_bond|ENST00000403662|protein_coding|4/14|c.267C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|beta_strand|ENST00000403662|protein_coding|4/14|c.267C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|disulfide_bond|ENST00000406230|protein_coding|3/13|c.267C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|beta_strand|ENST00000406230|protein_coding|3/13|c.267C>T|||||| 22 37322101 . C T . . ANN=T|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|4/14|c.273C>T|p.Cys91Cys|490/4866|273/2712|91/903||,T|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|4/14|c.273C>T|p.Cys91Cys|495/4863|273/2694|91/897||,T|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|3/13|c.273C>T|p.Cys91Cys|347/2895|273/2712|91/903||,T|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding|3/7|c.33C>T|p.Cys11Cys|316/969|33/686|11/227||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|2/12|c.96C>T|p.Cys32Cys|134/2765|96/2535|32/844||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.273C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.273C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.273C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.273C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.273C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.273C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.273C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.273C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.273C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.273C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|disulfide_bond|ENST00000403662|protein_coding|4/14|c.273C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|beta_strand|ENST00000403662|protein_coding|4/14|c.273C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|disulfide_bond|ENST00000406230|protein_coding|3/13|c.273C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|beta_strand|ENST00000406230|protein_coding|3/13|c.273C>T|||||| 22 37322192 . C T . . ANN=T|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|4/14|c.364C>T|p.Arg122Trp|581/4866|364/2712|122/903||,T|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|4/14|c.364C>T|p.Arg122Trp|586/4863|364/2694|122/897||,T|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|3/13|c.364C>T|p.Arg122Trp|438/2895|364/2712|122/903||,T|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding|3/7|c.124C>T|p.Arg42Trp|407/969|124/686|42/227||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|2/12|c.187C>T|p.Arg63Trp|225/2765|187/2535|63/844||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.364C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.364C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.364C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.364C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.364C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.364C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.364C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.364C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.364C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.364C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|beta_strand|ENST00000403662|protein_coding|4/14|c.364C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|beta_strand|ENST00000406230|protein_coding|3/13|c.364C>T|||||| 22 37322200 . C T . . ANN=T|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|4/14|c.372C>T|p.Thr124Thr|589/4866|372/2712|124/903||,T|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|4/14|c.372C>T|p.Thr124Thr|594/4863|372/2694|124/897||,T|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|3/13|c.372C>T|p.Thr124Thr|446/2895|372/2712|124/903||,T|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding|3/7|c.132C>T|p.Thr44Thr|415/969|132/686|44/227||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|2/12|c.195C>T|p.Thr65Thr|233/2765|195/2535|65/844||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.372C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.372C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.372C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.372C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.372C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.372C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.372C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.372C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.372C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.372C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|beta_strand|ENST00000403662|protein_coding|4/14|c.372C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|beta_strand|ENST00000406230|protein_coding|3/13|c.372C>T|||||| 22 37325396 . C G . . ANN=G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.392-48C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.392-48C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.392-48C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.392-48C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.392-48C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.392-48C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.392-48C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.392-48C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.392-48C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.392-48C>G||||||,G|TF_binding_site_variant|MODIFIER|||CTCF|MA0139.1|||||||||,G|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|4/13|c.392-48C>G||||||,G|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|4/13|c.392-48C>G||||||,G|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|3/12|c.392-48C>G||||||,G|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding|3/6|c.152-48C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|2/11|c.215-48C>G|||||| 22 37325400 . C A . . ANN=A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.392-44C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.392-44C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.392-44C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.392-44C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.392-44C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.392-44C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.392-44C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.392-44C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.392-44C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.392-44C>A||||||,A|TF_binding_site_variant|MODIFIER|||CTCF|MA0139.1|||||||||,A|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|4/13|c.392-44C>A||||||,A|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|4/13|c.392-44C>A||||||,A|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|3/12|c.392-44C>A||||||,A|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding|3/6|c.152-44C>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|2/11|c.215-44C>A|||||| 22 37325405 . G A . . ANN=A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.392-39G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.392-39G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.392-39G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.392-39G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.392-39G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.392-39G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.392-39G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.392-39G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.392-39G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.392-39G>A||||||,A|TF_binding_site_variant|MODIFIER|||CTCF|MA0139.1|||||||||,A|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|4/13|c.392-39G>A||||||,A|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|4/13|c.392-39G>A||||||,A|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|3/12|c.392-39G>A||||||,A|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding|3/6|c.152-39G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|2/11|c.215-39G>A|||||| 22 37325703 . A G . . ANN=G|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|6/14|c.572A>G|p.Asn191Ser|789/4866|572/2712|191/903||,G|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|6/14|c.572A>G|p.Asn191Ser|794/4863|572/2694|191/897||,G|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|5/13|c.572A>G|p.Asn191Ser|646/2895|572/2712|191/903||,G|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding|5/7|c.332A>G|p.Asn111Ser|615/969|332/686|111/227||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|4/12|c.395A>G|p.Asn132Ser|433/2765|395/2535|132/844||,G|sequence_feature|MODERATE|CSF2RB|ENSG00000100368|glycosylation_site:N-linked__GlcNAc..._|ENST00000403662|protein_coding|6/14|c.572A>G||||||,G|sequence_feature|MODERATE|CSF2RB|ENSG00000100368|glycosylation_site:N-linked__GlcNAc..._|ENST00000406230|protein_coding|5/13|c.572A>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.572A>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.572A>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.572A>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.572A>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.572A>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.572A>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.572A>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.572A>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.572A>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.572A>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_1|ENST00000403662|protein_coding|7/14|c.572A>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_1|ENST00000403662|protein_coding|5/14|c.572A>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_1|ENST00000403662|protein_coding|6/14|c.572A>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|beta_strand|ENST00000403662|protein_coding|6/14|c.572A>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_1|ENST00000406230|protein_coding|6/13|c.572A>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_1|ENST00000406230|protein_coding|4/13|c.572A>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_1|ENST00000406230|protein_coding|5/13|c.572A>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|beta_strand|ENST00000406230|protein_coding|5/13|c.572A>G|||||| 22 37325704 . C T . . ANN=T|sequence_feature|MODERATE|CSF2RB|ENSG00000100368|glycosylation_site:N-linked__GlcNAc..._|ENST00000403662|protein_coding|6/14|c.573C>T||||||,T|sequence_feature|MODERATE|CSF2RB|ENSG00000100368|glycosylation_site:N-linked__GlcNAc..._|ENST00000406230|protein_coding|5/13|c.573C>T||||||,T|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|6/14|c.573C>T|p.Asn191Asn|790/4866|573/2712|191/903||,T|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|6/14|c.573C>T|p.Asn191Asn|795/4863|573/2694|191/897||,T|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|5/13|c.573C>T|p.Asn191Asn|647/2895|573/2712|191/903||,T|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding|5/7|c.333C>T|p.Asn111Asn|616/969|333/686|111/227||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|4/12|c.396C>T|p.Asn132Asn|434/2765|396/2535|132/844||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.573C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.573C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.573C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.573C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.573C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.573C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.573C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.573C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.573C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.573C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_1|ENST00000403662|protein_coding|7/14|c.573C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_1|ENST00000403662|protein_coding|5/14|c.573C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_1|ENST00000403662|protein_coding|6/14|c.573C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|beta_strand|ENST00000403662|protein_coding|6/14|c.573C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_1|ENST00000406230|protein_coding|6/13|c.573C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_1|ENST00000406230|protein_coding|4/13|c.573C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_1|ENST00000406230|protein_coding|5/13|c.573C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|beta_strand|ENST00000406230|protein_coding|5/13|c.573C>T|||||| 22 37325818 . G A . . ANN=A|stop_gained|HIGH|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|6/14|c.687G>A|p.Trp229*|904/4866|687/2712|229/903||,A|stop_gained|HIGH|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|6/14|c.687G>A|p.Trp229*|909/4863|687/2694|229/897||,A|stop_gained|HIGH|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|5/13|c.687G>A|p.Trp229*|761/2895|687/2712|229/903||,A|stop_gained|HIGH|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding|5/7|c.447G>A|p.Trp149*|730/969|447/686|149/227||WARNING_TRANSCRIPT_INCOMPLETE,A|stop_gained|HIGH|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|4/12|c.510G>A|p.Trp170*|548/2765|510/2535|170/844||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.687G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.687G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.687G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.687G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.687G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.687G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.687G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.687G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.687G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.687G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_1|ENST00000403662|protein_coding|7/14|c.687G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_1|ENST00000403662|protein_coding|5/14|c.687G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_1|ENST00000403662|protein_coding|6/14|c.687G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_1|ENST00000406230|protein_coding|6/13|c.687G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_1|ENST00000406230|protein_coding|4/13|c.687G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_1|ENST00000406230|protein_coding|5/13|c.687G>A||||||;LOF=(CSF2RB|ENSG00000100368|5|1.00);NMD=(CSF2RB|ENSG00000100368|5|1.00) 22 37325833 . C T . . ANN=T|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|6/14|c.702C>T|p.Cys234Cys|919/4866|702/2712|234/903||,T|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|6/14|c.702C>T|p.Cys234Cys|924/4863|702/2694|234/897||,T|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|5/13|c.702C>T|p.Cys234Cys|776/2895|702/2712|234/903||,T|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding|5/7|c.462C>T|p.Cys154Cys|745/969|462/686|154/227||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|4/12|c.525C>T|p.Cys175Cys|563/2765|525/2535|175/844||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.702C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.702C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.702C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.702C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.702C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.702C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.702C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.702C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.702C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.702C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_1|ENST00000403662|protein_coding|7/14|c.702C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_1|ENST00000403662|protein_coding|5/14|c.702C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_1|ENST00000403662|protein_coding|6/14|c.702C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|beta_strand|ENST00000403662|protein_coding|6/14|c.702C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_1|ENST00000406230|protein_coding|6/13|c.702C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_1|ENST00000406230|protein_coding|4/13|c.702C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_1|ENST00000406230|protein_coding|5/13|c.702C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|beta_strand|ENST00000406230|protein_coding|5/13|c.702C>T|||||| 22 37325887 . G A . . ANN=A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.718+38G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.718+38G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.718+38G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.718+38G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.718+38G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.718+38G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.718+38G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.718+38G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.718+38G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.718+38G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_1|ENST00000403662|protein_coding|7/14|c.718+38G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_1|ENST00000403662|protein_coding|5/14|c.718+38G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_1|ENST00000403662|protein_coding|6/14|c.718+38G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_1|ENST00000406230|protein_coding|6/13|c.718+38G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_1|ENST00000406230|protein_coding|4/13|c.718+38G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_1|ENST00000406230|protein_coding|5/13|c.718+38G>A||||||,A|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|6/13|c.718+38G>A||||||,A|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|6/13|c.718+38G>A||||||,A|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|5/12|c.718+38G>A||||||,A|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding|5/6|c.478+38G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|4/11|c.541+38G>A|||||| 22 37326387 . G A . . ANN=A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.719-30G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.719-30G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.719-30G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.719-30G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.719-30G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.719-30G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.719-30G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.719-30G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.719-30G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.719-30G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_1|ENST00000403662|protein_coding|7/14|c.719-30G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_1|ENST00000403662|protein_coding|5/14|c.719-30G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_1|ENST00000403662|protein_coding|6/14|c.719-30G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_1|ENST00000406230|protein_coding|6/13|c.719-30G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_1|ENST00000406230|protein_coding|4/13|c.719-30G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_1|ENST00000406230|protein_coding|5/13|c.719-30G>A||||||,A|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|6/13|c.719-30G>A||||||,A|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|6/13|c.719-30G>A||||||,A|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|5/12|c.719-30G>A||||||,A|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding|5/6|c.479-30G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|4/11|c.542-30G>A|||||| 22 37326443 . G C . . ANN=C|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|7/14|c.745G>C|p.Glu249Gln|962/4866|745/2712|249/903||,C|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|7/14|c.745G>C|p.Glu249Gln|967/4863|745/2694|249/897||,C|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|6/13|c.745G>C|p.Glu249Gln|819/2895|745/2712|249/903||,C|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding|6/7|c.505G>C|p.Glu169Gln|788/969|505/686|169/227||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|5/12|c.568G>C|p.Glu190Gln|606/2765|568/2535|190/844||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.745G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.745G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.745G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.745G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.745G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.745G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.745G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.745G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.745G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.745G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|beta_strand|ENST00000403662|protein_coding|7/14|c.745G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|beta_strand|ENST00000406230|protein_coding|6/13|c.745G>C|||||| 22 37326669 . C T . . ANN=T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.855-46C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.855-46C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.855-46C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.855-46C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.855-46C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.855-46C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.855-46C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.855-46C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.855-46C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.855-46C>T||||||,T|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|7/13|c.855-28C>T||||||,T|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|7/13|c.855-46C>T||||||,T|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|6/12|c.855-28C>T||||||,T|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding|6/6|c.615-46C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|5/11|c.678-28C>T|||||| 22 37326678 . T G . . ANN=G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.855-37T>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.855-37T>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.855-37T>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.855-37T>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.855-37T>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.855-37T>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.855-37T>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.855-37T>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.855-37T>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.855-37T>G||||||,G|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|7/13|c.855-19T>G||||||,G|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|7/13|c.855-37T>G||||||,G|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|6/12|c.855-19T>G||||||,G|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding|6/6|c.615-37T>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|5/11|c.678-19T>G|||||| 22 37326685 . C A . . ANN=A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.855-30C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.855-30C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.855-30C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.855-30C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.855-30C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.855-30C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.855-30C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.855-30C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.855-30C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.855-30C>A||||||,A|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|7/13|c.855-12C>A||||||,A|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|7/13|c.855-30C>A||||||,A|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|6/12|c.855-12C>A||||||,A|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding|6/6|c.615-30C>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|5/11|c.678-12C>A|||||| 22 37326749 . C G . . ANN=G|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|8/14|c.907C>G|p.Leu303Val|1124/4866|907/2712|303/903||,G|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|8/14|c.889C>G|p.Leu297Val|1111/4863|889/2694|297/897||,G|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|7/13|c.907C>G|p.Leu303Val|981/2895|907/2712|303/903||,G|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding|7/7|c.649C>G|p.Leu217Val|932/969|649/686|217/227||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|6/12|c.730C>G|p.Leu244Val|768/2765|730/2535|244/844||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.889C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.889C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.889C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.889C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.889C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.889C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.889C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.889C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.889C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.889C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|disulfide_bond|ENST00000403662|protein_coding|8/14|c.889C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|disulfide_bond|ENST00000406230|protein_coding|7/13|c.907C>G|||||| 22 37326794 . G A . . ANN=A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|8/14|c.952G>A|p.Asp318Asn|1169/4866|952/2712|318/903||,A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|8/14|c.934G>A|p.Asp312Asn|1156/4863|934/2694|312/897||,A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|7/13|c.952G>A|p.Asp318Asn|1026/2895|952/2712|318/903||,A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|6/12|c.775G>A|p.Asp259Asn|813/2765|775/2535|259/844||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.934G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.934G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.934G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.934G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.934G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.934G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.934G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.934G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.934G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.934G>A||||||,A|downstream_gene_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding||c.*969G>A|||||8|WARNING_TRANSCRIPT_INCOMPLETE 22 37326899 . G A . . ANN=A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.1012+27G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.1012+27G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.1012+27G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.1012+27G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.1012+27G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.1012+27G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.1012+27G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.1012+27G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.1012+27G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.1012+27G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|beta_strand|ENST00000403662|protein_coding|8/14|c.1012+27G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|beta_strand|ENST00000403662|protein_coding|9/14|c.1012+27G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|beta_strand|ENST00000406230|protein_coding|7/13|c.1030+27G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|beta_strand|ENST00000406230|protein_coding|8/13|c.1030+27G>A||||||,A|downstream_gene_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding||c.*969G>A|||||113|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|8/13|c.1030+27G>A||||||,A|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|8/13|c.1012+27G>A||||||,A|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|7/12|c.1030+27G>A||||||,A|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|6/11|c.853+27G>A|||||| 22 37328777 . T C . . ANN=C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.1013-30T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.1013-30T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.1013-30T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.1013-30T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.1013-30T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.1013-30T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.1013-30T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.1013-30T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.1013-30T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.1013-30T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|beta_strand|ENST00000403662|protein_coding|8/14|c.1013-30T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|beta_strand|ENST00000403662|protein_coding|9/14|c.1013-30T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|beta_strand|ENST00000406230|protein_coding|7/13|c.1031-30T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|beta_strand|ENST00000406230|protein_coding|8/13|c.1031-30T>C||||||,C|downstream_gene_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding||c.*969T>C|||||1991|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|8/13|c.1031-30T>C||||||,C|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|8/13|c.1013-30T>C||||||,C|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|7/12|c.1031-30T>C||||||,C|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|6/11|c.854-30T>C|||||| 22 37328890 . G A . . ANN=A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|9/14|c.1114G>A|p.Glu372Lys|1331/4866|1114/2712|372/903||,A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|9/14|c.1096G>A|p.Glu366Lys|1318/4863|1096/2694|366/897||,A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|8/13|c.1114G>A|p.Glu372Lys|1188/2895|1114/2712|372/903||,A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|7/12|c.937G>A|p.Glu313Lys|975/2765|937/2535|313/844||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.1096G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.1096G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.1096G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.1096G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.1096G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.1096G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.1096G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.1096G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.1096G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.1096G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000403662|protein_coding|10/14|c.1096G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000403662|protein_coding|9/14|c.1096G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|beta_strand|ENST00000403662|protein_coding|9/14|c.1096G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000406230|protein_coding|9/13|c.1114G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000406230|protein_coding|8/13|c.1114G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|beta_strand|ENST00000406230|protein_coding|8/13|c.1114G>A||||||,A|downstream_gene_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding||c.*969G>A|||||2104|WARNING_TRANSCRIPT_INCOMPLETE 22 37328901 . C G . . ANN=G|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|9/14|c.1125C>G|p.Asp375Glu|1342/4866|1125/2712|375/903||,G|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|9/14|c.1107C>G|p.Asp369Glu|1329/4863|1107/2694|369/897||,G|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|8/13|c.1125C>G|p.Asp375Glu|1199/2895|1125/2712|375/903||,G|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|7/12|c.948C>G|p.Asp316Glu|986/2765|948/2535|316/844||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.1107C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.1107C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.1107C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.1107C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.1107C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.1107C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.1107C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.1107C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.1107C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.1107C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000403662|protein_coding|10/14|c.1107C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000403662|protein_coding|9/14|c.1107C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000406230|protein_coding|9/13|c.1125C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000406230|protein_coding|8/13|c.1125C>G||||||,G|downstream_gene_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding||c.*969C>G|||||2115|WARNING_TRANSCRIPT_INCOMPLETE 22 37328913 . G A . . ANN=A|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|9/14|c.1137G>A|p.Glu379Glu|1354/4866|1137/2712|379/903||,A|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|9/14|c.1119G>A|p.Glu373Glu|1341/4863|1119/2694|373/897||,A|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|8/13|c.1137G>A|p.Glu379Glu|1211/2895|1137/2712|379/903||,A|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|7/12|c.960G>A|p.Glu320Glu|998/2765|960/2535|320/844||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.1119G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.1119G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.1119G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.1119G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.1119G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.1119G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.1119G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.1119G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.1119G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.1119G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000403662|protein_coding|10/14|c.1119G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000403662|protein_coding|9/14|c.1119G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|beta_strand|ENST00000403662|protein_coding|9/14|c.1119G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000406230|protein_coding|9/13|c.1137G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000406230|protein_coding|8/13|c.1137G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|beta_strand|ENST00000406230|protein_coding|8/13|c.1137G>A||||||,A|downstream_gene_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding||c.*969G>A|||||2127|WARNING_TRANSCRIPT_INCOMPLETE 22 37328940 . G A . . ANN=A|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|9/14|c.1164G>A|p.Thr388Thr|1381/4866|1164/2712|388/903||,A|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|9/14|c.1146G>A|p.Thr382Thr|1368/4863|1146/2694|382/897||,A|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|8/13|c.1164G>A|p.Thr388Thr|1238/2895|1164/2712|388/903||,A|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|7/12|c.987G>A|p.Thr329Thr|1025/2765|987/2535|329/844||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.1146G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.1146G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.1146G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.1146G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.1146G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.1146G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.1146G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.1146G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.1146G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.1146G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000403662|protein_coding|10/14|c.1146G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000403662|protein_coding|9/14|c.1146G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000406230|protein_coding|9/13|c.1164G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000406230|protein_coding|8/13|c.1164G>A||||||,A|downstream_gene_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding||c.*969G>A|||||2154|WARNING_TRANSCRIPT_INCOMPLETE 22 37328953 . G T . . ANN=T|splice_region_variant&intron_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|9/13|c.1170+7G>T||||||,T|splice_region_variant&intron_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|9/13|c.1152+7G>T||||||,T|splice_region_variant&intron_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|8/12|c.1170+7G>T||||||,T|splice_region_variant&intron_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|7/11|c.993+7G>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.1152+7G>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.1152+7G>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.1152+7G>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.1152+7G>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.1152+7G>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.1152+7G>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.1152+7G>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.1152+7G>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.1152+7G>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.1152+7G>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000403662|protein_coding|10/14|c.1152+7G>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000403662|protein_coding|9/14|c.1152+7G>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|helix|ENST00000403662|protein_coding|10/14|c.1152+7G>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|helix|ENST00000403662|protein_coding|9/14|c.1152+7G>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000406230|protein_coding|9/13|c.1170+7G>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000406230|protein_coding|8/13|c.1170+7G>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|helix|ENST00000406230|protein_coding|9/13|c.1170+7G>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|helix|ENST00000406230|protein_coding|8/13|c.1170+7G>T||||||,T|downstream_gene_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding||c.*969G>T|||||2167|WARNING_TRANSCRIPT_INCOMPLETE 22 37328966 . G C . . ANN=C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.1152+20G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.1152+20G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.1152+20G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.1152+20G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.1152+20G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.1152+20G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.1152+20G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.1152+20G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.1152+20G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.1152+20G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000403662|protein_coding|10/14|c.1152+20G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000403662|protein_coding|9/14|c.1152+20G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|helix|ENST00000403662|protein_coding|10/14|c.1152+20G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|helix|ENST00000403662|protein_coding|9/14|c.1152+20G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000406230|protein_coding|9/13|c.1170+20G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000406230|protein_coding|8/13|c.1170+20G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|helix|ENST00000406230|protein_coding|9/13|c.1170+20G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|helix|ENST00000406230|protein_coding|8/13|c.1170+20G>C||||||,C|downstream_gene_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding||c.*969G>C|||||2180|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|9/13|c.1170+20G>C||||||,C|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|9/13|c.1152+20G>C||||||,C|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|8/12|c.1170+20G>C||||||,C|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|7/11|c.993+20G>C|||||| 22 37328968 . G C . . ANN=C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.1152+22G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.1152+22G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.1152+22G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.1152+22G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.1152+22G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.1152+22G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.1152+22G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.1152+22G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.1152+22G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.1152+22G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000403662|protein_coding|10/14|c.1152+22G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000403662|protein_coding|9/14|c.1152+22G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|helix|ENST00000403662|protein_coding|10/14|c.1152+22G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|helix|ENST00000403662|protein_coding|9/14|c.1152+22G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000406230|protein_coding|9/13|c.1170+22G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000406230|protein_coding|8/13|c.1170+22G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|helix|ENST00000406230|protein_coding|9/13|c.1170+22G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|helix|ENST00000406230|protein_coding|8/13|c.1170+22G>C||||||,C|downstream_gene_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding||c.*969G>C|||||2182|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|9/13|c.1170+22G>C||||||,C|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|9/13|c.1152+22G>C||||||,C|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|8/12|c.1170+22G>C||||||,C|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|7/11|c.993+22G>C|||||| 22 37329861 . T C . . ANN=C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.1153-13T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.1153-13T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.1153-13T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.1153-13T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.1153-13T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.1153-13T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.1153-13T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.1153-13T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.1153-13T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.1153-13T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000403662|protein_coding|10/14|c.1153-13T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000403662|protein_coding|9/14|c.1153-13T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|helix|ENST00000403662|protein_coding|10/14|c.1153-13T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|helix|ENST00000403662|protein_coding|9/14|c.1153-13T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000406230|protein_coding|9/13|c.1171-13T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000406230|protein_coding|8/13|c.1171-13T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|helix|ENST00000406230|protein_coding|9/13|c.1171-13T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|helix|ENST00000406230|protein_coding|8/13|c.1171-13T>C||||||,C|downstream_gene_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding||c.*969T>C|||||3075|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|9/13|c.1171-13T>C||||||,C|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|9/13|c.1153-13T>C||||||,C|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|8/12|c.1171-13T>C||||||,C|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|7/11|c.994-13T>C|||||| 22 37329900 . C T . . ANN=T|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|10/14|c.1197C>T|p.Asn399Asn|1414/4866|1197/2712|399/903||,T|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|10/14|c.1179C>T|p.Asn393Asn|1401/4863|1179/2694|393/897||,T|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|9/13|c.1197C>T|p.Asn399Asn|1271/2895|1197/2712|399/903||,T|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|8/12|c.1020C>T|p.Asn340Asn|1058/2765|1020/2535|340/844||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.1179C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.1179C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.1179C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.1179C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.1179C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.1179C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.1179C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.1179C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.1179C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.1179C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000403662|protein_coding|10/14|c.1179C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000403662|protein_coding|9/14|c.1179C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|beta_strand|ENST00000403662|protein_coding|10/14|c.1179C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000406230|protein_coding|9/13|c.1197C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000406230|protein_coding|8/13|c.1197C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|beta_strand|ENST00000406230|protein_coding|9/13|c.1197C>T||||||,T|downstream_gene_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding||c.*969C>T|||||3114|WARNING_TRANSCRIPT_INCOMPLETE 22 37329915 . C T . . ANN=T|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|10/14|c.1212C>T|p.Ala404Ala|1429/4866|1212/2712|404/903||,T|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|10/14|c.1194C>T|p.Ala398Ala|1416/4863|1194/2694|398/897||,T|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|9/13|c.1212C>T|p.Ala404Ala|1286/2895|1212/2712|404/903||,T|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|8/12|c.1035C>T|p.Ala345Ala|1073/2765|1035/2535|345/844||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.1194C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.1194C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.1194C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.1194C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.1194C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.1194C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.1194C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.1194C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.1194C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.1194C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000403662|protein_coding|10/14|c.1194C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000403662|protein_coding|9/14|c.1194C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|beta_strand|ENST00000403662|protein_coding|10/14|c.1194C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000406230|protein_coding|9/13|c.1212C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000406230|protein_coding|8/13|c.1212C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|beta_strand|ENST00000406230|protein_coding|9/13|c.1212C>T||||||,T|downstream_gene_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding||c.*969C>T|||||3129|WARNING_TRANSCRIPT_INCOMPLETE 22 37329999 . C T . . ANN=T|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|10/14|c.1296C>T|p.Ser432Ser|1513/4866|1296/2712|432/903||,T|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|10/14|c.1278C>T|p.Ser426Ser|1500/4863|1278/2694|426/897||,T|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|9/13|c.1296C>T|p.Ser432Ser|1370/2895|1296/2712|432/903||,T|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|8/12|c.1119C>T|p.Ser373Ser|1157/2765|1119/2535|373/844||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.1278C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.1278C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.1278C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.1278C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.1278C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.1278C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.1278C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.1278C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.1278C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.1278C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000403662|protein_coding|10/14|c.1278C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000403662|protein_coding|9/14|c.1278C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|short_sequence_motif:WSXWS_motif|ENST00000403662|protein_coding|10/14|c.1278C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000406230|protein_coding|9/13|c.1296C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000406230|protein_coding|8/13|c.1296C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|short_sequence_motif:WSXWS_motif|ENST00000406230|protein_coding|9/13|c.1296C>T||||||,T|downstream_gene_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding||c.*969C>T|||||3213|WARNING_TRANSCRIPT_INCOMPLETE 22 37330000 . G A . . ANN=A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|10/14|c.1297G>A|p.Glu433Lys|1514/4866|1297/2712|433/903||,A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|10/14|c.1279G>A|p.Glu427Lys|1501/4863|1279/2694|427/897||,A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|9/13|c.1297G>A|p.Glu433Lys|1371/2895|1297/2712|433/903||,A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|8/12|c.1120G>A|p.Glu374Lys|1158/2765|1120/2535|374/844||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.1279G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.1279G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.1279G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.1279G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.1279G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.1279G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.1279G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.1279G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.1279G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.1279G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000403662|protein_coding|10/14|c.1279G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000403662|protein_coding|9/14|c.1279G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|short_sequence_motif:WSXWS_motif|ENST00000403662|protein_coding|10/14|c.1279G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000406230|protein_coding|9/13|c.1297G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000406230|protein_coding|8/13|c.1297G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|short_sequence_motif:WSXWS_motif|ENST00000406230|protein_coding|9/13|c.1297G>A||||||,A|downstream_gene_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding||c.*969G>A|||||3214|WARNING_TRANSCRIPT_INCOMPLETE 22 37330074 . C T . . ANN=T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.1315+38C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.1315+38C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.1315+38C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.1315+38C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.1315+38C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.1315+38C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.1315+38C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.1315+38C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.1315+38C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.1315+38C>T||||||,T|downstream_gene_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding||c.*969C>T|||||3288|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|10/13|c.1333+38C>T||||||,T|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|10/13|c.1315+38C>T||||||,T|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|9/12|c.1333+38C>T||||||,T|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|8/11|c.1156+38C>T|||||| 22 37330080 . C G . . ANN=G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.1315+44C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.1315+44C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.1315+44C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.1315+44C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.1315+44C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.1315+44C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.1315+44C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.1315+44C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.1315+44C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.1315+44C>G||||||,G|downstream_gene_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding||c.*969C>G|||||3294|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|10/13|c.1333+44C>G||||||,G|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|10/13|c.1315+44C>G||||||,G|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|9/12|c.1333+44C>G||||||,G|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|8/11|c.1156+44C>G|||||| 22 37330082 . T C . . ANN=C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.1315+46T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.1315+46T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.1315+46T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.1315+46T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.1315+46T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.1315+46T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.1315+46T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.1315+46T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.1315+46T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.1315+46T>C||||||,C|downstream_gene_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding||c.*969T>C|||||3296|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|10/13|c.1333+46T>C||||||,C|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|10/13|c.1315+46T>C||||||,C|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|9/12|c.1333+46T>C||||||,C|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|8/11|c.1156+46T>C|||||| 22 37331346 . T C . . ANN=C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.1316-47T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.1316-47T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.1316-47T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.1316-47T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.1316-47T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.1316-47T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.1316-47T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.1316-47T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.1316-47T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.1316-47T>C||||||,C|downstream_gene_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding||c.*969T>C|||||4560|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|10/13|c.1334-47T>C||||||,C|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|10/13|c.1316-47T>C||||||,C|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|9/12|c.1334-47T>C||||||,C|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|8/11|c.1157-47T>C|||||| 22 37331351 . G A . . ANN=A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.1316-42G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.1316-42G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.1316-42G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.1316-42G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.1316-42G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.1316-42G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.1316-42G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.1316-42G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.1316-42G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.1316-42G>A||||||,A|downstream_gene_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding||c.*969G>A|||||4565|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|10/13|c.1334-42G>A||||||,A|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|10/13|c.1316-42G>A||||||,A|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|9/12|c.1334-42G>A||||||,A|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|8/11|c.1157-42G>A|||||| 22 37331368 . C G . . ANN=G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.1316-25C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.1316-25C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.1316-25C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.1316-25C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.1316-25C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.1316-25C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.1316-25C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.1316-25C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.1316-25C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.1316-25C>G||||||,G|downstream_gene_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding||c.*969C>G|||||4582|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|10/13|c.1334-25C>G||||||,G|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|10/13|c.1316-25C>G||||||,G|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|9/12|c.1334-25C>G||||||,G|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|8/11|c.1157-25C>G|||||| 22 37331455 . C G . . ANN=G|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|11/14|c.1396C>G|p.Leu466Val|1613/4866|1396/2712|466/903||,G|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|11/14|c.1378C>G|p.Leu460Val|1600/4863|1378/2694|460/897||,G|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|10/13|c.1396C>G|p.Leu466Val|1470/2895|1396/2712|466/903||,G|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|9/12|c.1219C>G|p.Leu407Val|1257/2765|1219/2535|407/844||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|transmembrane_region:Transmembrane_region|ENST00000403662|protein_coding|11/14|c.1378C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|transmembrane_region:Transmembrane_region|ENST00000406230|protein_coding|10/13|c.1396C>G||||||,G|downstream_gene_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding||c.*969C>G|||||4669|WARNING_TRANSCRIPT_INCOMPLETE 22 37331648 . T C . . ANN=C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|11/14|c.1407-24T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|13/14|c.1407-24T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|14/14|c.1407-24T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|12/14|c.1407-24T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|10/13|c.1425-24T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|12/13|c.1425-24T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|11/13|c.1425-24T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|13/13|c.1425-24T>C||||||,C|downstream_gene_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding||c.*969T>C|||||4862|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|11/13|c.1425-24T>C||||||,C|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|11/13|c.1407-24T>C||||||,C|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|10/12|c.1425-24T>C||||||,C|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|9/11|c.1248-24T>C|||||| 22 37331657 . C T . . ANN=T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|11/14|c.1407-15C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|13/14|c.1407-15C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|14/14|c.1407-15C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|12/14|c.1407-15C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|10/13|c.1425-15C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|12/13|c.1425-15C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|11/13|c.1425-15C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|13/13|c.1425-15C>T||||||,T|downstream_gene_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding||c.*969C>T|||||4871|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|11/13|c.1425-15C>T||||||,T|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|11/13|c.1407-15C>T||||||,T|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|10/12|c.1425-15C>T||||||,T|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|9/11|c.1248-15C>T|||||| 22 37331658 . G A . . ANN=A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|11/14|c.1407-14G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|13/14|c.1407-14G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|14/14|c.1407-14G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|12/14|c.1407-14G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|10/13|c.1425-14G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|12/13|c.1425-14G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|11/13|c.1425-14G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|13/13|c.1425-14G>A||||||,A|downstream_gene_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding||c.*969G>A|||||4872|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|11/13|c.1425-14G>A||||||,A|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|11/13|c.1407-14G>A||||||,A|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|10/12|c.1425-14G>A||||||,A|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|9/11|c.1248-14G>A|||||| 22 37331663 . G A . . ANN=A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|11/14|c.1407-9G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|13/14|c.1407-9G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|14/14|c.1407-9G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|12/14|c.1407-9G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|10/13|c.1425-9G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|12/13|c.1425-9G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|11/13|c.1425-9G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|13/13|c.1425-9G>A||||||,A|downstream_gene_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding||c.*969G>A|||||4877|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|11/13|c.1425-9G>A||||||,A|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|11/13|c.1407-9G>A||||||,A|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|10/12|c.1425-9G>A||||||,A|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|9/11|c.1248-9G>A|||||| 22 37331746 . A T . . ANN=T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|11/14|c.1464+17A>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|13/14|c.1464+17A>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|14/14|c.1464+17A>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|12/14|c.1464+17A>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|10/13|c.1482+17A>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|12/13|c.1482+17A>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|11/13|c.1482+17A>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|13/13|c.1482+17A>T||||||,T|downstream_gene_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding||c.*969A>T|||||4960|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|12/13|c.1482+17A>T||||||,T|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|12/13|c.1464+17A>T||||||,T|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|11/12|c.1482+17A>T||||||,T|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|10/11|c.1305+17A>T|||||| 22 37331752 . G C . . ANN=C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|11/14|c.1464+23G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|13/14|c.1464+23G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|14/14|c.1464+23G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|12/14|c.1464+23G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|10/13|c.1482+23G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|12/13|c.1482+23G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|11/13|c.1482+23G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|13/13|c.1482+23G>C||||||,C|downstream_gene_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding||c.*969G>C|||||4966|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|12/13|c.1482+23G>C||||||,C|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|12/13|c.1464+23G>C||||||,C|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|11/12|c.1482+23G>C||||||,C|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|10/11|c.1305+23G>C|||||| 22 37332543 . C T . . ANN=T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|11/14|c.1465-48C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|13/14|c.1465-48C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|14/14|c.1465-48C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|12/14|c.1465-48C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|10/13|c.1483-48C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|12/13|c.1483-48C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|11/13|c.1483-48C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|13/13|c.1483-48C>T||||||,T|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|12/13|c.1483-48C>T||||||,T|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|12/13|c.1465-48C>T||||||,T|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|11/12|c.1483-48C>T||||||,T|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|10/11|c.1306-48C>T|||||| 22 37332546 . C T . . ANN=T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|11/14|c.1465-45C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|13/14|c.1465-45C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|14/14|c.1465-45C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|12/14|c.1465-45C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|10/13|c.1483-45C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|12/13|c.1483-45C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|11/13|c.1483-45C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|13/13|c.1483-45C>T||||||,T|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|12/13|c.1483-45C>T||||||,T|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|12/13|c.1465-45C>T||||||,T|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|11/12|c.1483-45C>T||||||,T|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|10/11|c.1306-45C>T|||||| 22 37332547 . G A . . ANN=A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|11/14|c.1465-44G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|13/14|c.1465-44G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|14/14|c.1465-44G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|12/14|c.1465-44G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|10/13|c.1483-44G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|12/13|c.1483-44G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|11/13|c.1483-44G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|13/13|c.1483-44G>A||||||,A|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|12/13|c.1483-44G>A||||||,A|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|12/13|c.1465-44G>A||||||,A|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|11/12|c.1483-44G>A||||||,A|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|10/11|c.1306-44G>A|||||| 22 37332557 . A T . . ANN=T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|11/14|c.1465-34A>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|13/14|c.1465-34A>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|14/14|c.1465-34A>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|12/14|c.1465-34A>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|10/13|c.1483-34A>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|12/13|c.1483-34A>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|11/13|c.1483-34A>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|13/13|c.1483-34A>T||||||,T|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|12/13|c.1483-34A>T||||||,T|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|12/13|c.1465-34A>T||||||,T|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|11/12|c.1483-34A>T||||||,T|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|10/11|c.1306-34A>T|||||| 22 37332560 . C T . . ANN=T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|11/14|c.1465-31C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|13/14|c.1465-31C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|14/14|c.1465-31C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|12/14|c.1465-31C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|10/13|c.1483-31C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|12/13|c.1483-31C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|11/13|c.1483-31C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|13/13|c.1483-31C>T||||||,T|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|12/13|c.1483-31C>T||||||,T|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|12/13|c.1465-31C>T||||||,T|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|11/12|c.1483-31C>T||||||,T|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|10/11|c.1306-31C>T|||||| 22 37332629 . G A . . ANN=A|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|13/14|c.1521G>A|p.Ser507Ser|1738/4866|1521/2712|507/903||,A|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|13/14|c.1503G>A|p.Ser501Ser|1725/4863|1503/2694|501/897||,A|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|12/13|c.1521G>A|p.Ser507Ser|1595/2895|1521/2712|507/903||,A|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|11/12|c.1344G>A|p.Ser448Ser|1382/2765|1344/2535|448/844||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|11/14|c.1503G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|13/14|c.1503G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|14/14|c.1503G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|12/14|c.1503G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|10/13|c.1521G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|12/13|c.1521G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|11/13|c.1521G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|13/13|c.1521G>A|||||| 22 37332649 . C A . . ANN=A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|13/14|c.1541C>A|p.Pro514His|1758/4866|1541/2712|514/903||,A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|13/14|c.1523C>A|p.Pro508His|1745/4863|1523/2694|508/897||,A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|12/13|c.1541C>A|p.Pro514His|1615/2895|1541/2712|514/903||,A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|11/12|c.1364C>A|p.Pro455His|1402/2765|1364/2535|455/844||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|11/14|c.1523C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|13/14|c.1523C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|14/14|c.1523C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|12/14|c.1523C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|10/13|c.1541C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|12/13|c.1541C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|11/13|c.1541C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|13/13|c.1541C>A|||||| 22 37332723 . C T . . ANN=T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|11/14|c.1568+29C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|13/14|c.1568+29C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|14/14|c.1568+29C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|12/14|c.1568+29C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|10/13|c.1586+29C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|12/13|c.1586+29C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|11/13|c.1586+29C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|13/13|c.1586+29C>T||||||,T|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|13/13|c.1586+29C>T||||||,T|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|13/13|c.1568+29C>T||||||,T|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|12/12|c.1586+29C>T||||||,T|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|11/11|c.1409+29C>T|||||| 22 37333406 . T G . . ANN=G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|11/14|c.1569-13T>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|13/14|c.1569-13T>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|14/14|c.1569-13T>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|12/14|c.1569-13T>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|10/13|c.1587-13T>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|12/13|c.1587-13T>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|11/13|c.1587-13T>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|13/13|c.1587-13T>G||||||,G|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|13/13|c.1587-13T>G||||||,G|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|13/13|c.1569-13T>G||||||,G|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|12/12|c.1587-13T>G||||||,G|intron_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|11/11|c.1410-13T>G|||||| 22 37333414 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|13/13|c.1587-5C>T||||||,T|splice_region_variant&intron_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|13/13|c.1569-5C>T||||||,T|splice_region_variant&intron_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|12/12|c.1587-5C>T||||||,T|splice_region_variant&intron_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|11/11|c.1410-5C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|11/14|c.1569-5C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|13/14|c.1569-5C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|14/14|c.1569-5C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|12/14|c.1569-5C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|10/13|c.1587-5C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|12/13|c.1587-5C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|11/13|c.1587-5C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|13/13|c.1587-5C>T|||||| 22 37333443 . C G . . ANN=G|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|14/14|c.1611C>G|p.Asp537Glu|1828/4866|1611/2712|537/903||,G|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|14/14|c.1593C>G|p.Asp531Glu|1815/4863|1593/2694|531/897||,G|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|13/13|c.1611C>G|p.Asp537Glu|1685/2895|1611/2712|537/903||,G|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|12/12|c.1434C>G|p.Asp478Glu|1472/2765|1434/2535|478/844||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|11/14|c.1593C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|13/14|c.1593C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|14/14|c.1593C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|12/14|c.1593C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|10/13|c.1611C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|12/13|c.1611C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|11/13|c.1611C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|13/13|c.1611C>G|||||| 22 37333446 . C T . . ANN=T|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|14/14|c.1614C>T|p.Ser538Ser|1831/4866|1614/2712|538/903||,T|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|14/14|c.1596C>T|p.Ser532Ser|1818/4863|1596/2694|532/897||,T|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|13/13|c.1614C>T|p.Ser538Ser|1688/2895|1614/2712|538/903||,T|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|12/12|c.1437C>T|p.Ser479Ser|1475/2765|1437/2535|479/844||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|11/14|c.1596C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|13/14|c.1596C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|14/14|c.1596C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|12/14|c.1596C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|10/13|c.1614C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|12/13|c.1614C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|11/13|c.1614C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|13/13|c.1614C>T|||||| 22 37333606 . A G . . ANN=G|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|14/14|c.1774A>G|p.Ser592Gly|1991/4866|1774/2712|592/903||,G|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|14/14|c.1756A>G|p.Ser586Gly|1978/4863|1756/2694|586/897||,G|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|13/13|c.1774A>G|p.Ser592Gly|1848/2895|1774/2712|592/903||,G|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|12/12|c.1597A>G|p.Ser533Gly|1635/2765|1597/2535|533/844||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|11/14|c.1756A>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|13/14|c.1756A>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|14/14|c.1756A>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|12/14|c.1756A>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|10/13|c.1774A>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|12/13|c.1774A>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|11/13|c.1774A>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|13/13|c.1774A>G|||||| 22 37333657 . C A . . ANN=A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|14/14|c.1825C>A|p.Pro609Thr|2042/4866|1825/2712|609/903||,A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|14/14|c.1807C>A|p.Pro603Thr|2029/4863|1807/2694|603/897||,A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|13/13|c.1825C>A|p.Pro609Thr|1899/2895|1825/2712|609/903||,A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|12/12|c.1648C>A|p.Pro550Thr|1686/2765|1648/2535|550/844||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|11/14|c.1807C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|13/14|c.1807C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|14/14|c.1807C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|12/14|c.1807C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|10/13|c.1825C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|12/13|c.1825C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|11/13|c.1825C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|13/13|c.1825C>A|||||| 22 37333676 . C T . . ANN=T|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|14/14|c.1844C>T|p.Pro615Leu|2061/4866|1844/2712|615/903||,T|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|14/14|c.1826C>T|p.Pro609Leu|2048/4863|1826/2694|609/897||,T|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|13/13|c.1844C>T|p.Pro615Leu|1918/2895|1844/2712|615/903||,T|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|12/12|c.1667C>T|p.Pro556Leu|1705/2765|1667/2535|556/844||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|11/14|c.1826C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|13/14|c.1826C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|14/14|c.1826C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|12/14|c.1826C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|10/13|c.1844C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|12/13|c.1844C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|11/13|c.1844C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|13/13|c.1844C>T|||||| 22 37333794 . A G . . ANN=G|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|14/14|c.1962A>G|p.Pro654Pro|2179/4866|1962/2712|654/903||,G|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|14/14|c.1944A>G|p.Pro648Pro|2166/4863|1944/2694|648/897||,G|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|13/13|c.1962A>G|p.Pro654Pro|2036/2895|1962/2712|654/903||,G|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|12/12|c.1785A>G|p.Pro595Pro|1823/2765|1785/2535|595/844||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|11/14|c.1944A>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|13/14|c.1944A>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|14/14|c.1944A>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|12/14|c.1944A>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|10/13|c.1962A>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|12/13|c.1962A>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|11/13|c.1962A>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|13/13|c.1962A>G|||||| 22 37333804 . G A . . ANN=A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|14/14|c.1972G>A|p.Val658Met|2189/4866|1972/2712|658/903||,A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|14/14|c.1954G>A|p.Val652Met|2176/4863|1954/2694|652/897||,A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|13/13|c.1972G>A|p.Val658Met|2046/2895|1972/2712|658/903||,A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|12/12|c.1795G>A|p.Val599Met|1833/2765|1795/2535|599/844||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|11/14|c.1954G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|13/14|c.1954G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|14/14|c.1954G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|12/14|c.1954G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|10/13|c.1972G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|12/13|c.1972G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|11/13|c.1972G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|13/13|c.1972G>A|||||| 22 37333828 . CA C . . ANN=|frameshift_variant|HIGH|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|14/14|c.1997delA|p.Gln666fs|2214/4866|1997/2712|666/903||,|frameshift_variant|HIGH|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|14/14|c.1979delA|p.Gln660fs|2201/4863|1979/2694|660/897||,|frameshift_variant|HIGH|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|13/13|c.1997delA|p.Gln666fs|2071/2895|1997/2712|666/903||,|frameshift_variant|HIGH|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|12/12|c.1820delA|p.Gln607fs|1858/2765|1820/2535|607/844||,|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|11/14|c.1979delA||||||,|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|13/14|c.1979delA||||||,|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|14/14|c.1979delA||||||,|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|12/14|c.1979delA||||||,|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|10/13|c.1997delA||||||,|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|12/13|c.1997delA||||||,|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|11/13|c.1997delA||||||,|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|13/13|c.1997delA||||||;LOF=(CSF2RB|ENSG00000100368|5|0.80) 22 37333900 . G C . . ANN=C|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|14/14|c.2068G>C|p.Gly690Arg|2285/4866|2068/2712|690/903||,C|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|14/14|c.2050G>C|p.Gly684Arg|2272/4863|2050/2694|684/897||,C|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|13/13|c.2068G>C|p.Gly690Arg|2142/2895|2068/2712|690/903||,C|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|12/12|c.1891G>C|p.Gly631Arg|1929/2765|1891/2535|631/844||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|11/14|c.2050G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|13/14|c.2050G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|14/14|c.2050G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|12/14|c.2050G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|10/13|c.2068G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|12/13|c.2068G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|11/13|c.2068G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|13/13|c.2068G>C|||||| 22 37333936 . C T . . ANN=T|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|14/14|c.2104C>T|p.Pro702Ser|2321/4866|2104/2712|702/903||,T|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|14/14|c.2086C>T|p.Pro696Ser|2308/4863|2086/2694|696/897||,T|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|13/13|c.2104C>T|p.Pro702Ser|2178/2895|2104/2712|702/903||,T|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|12/12|c.1927C>T|p.Pro643Ser|1965/2765|1927/2535|643/844||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|11/14|c.2086C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|13/14|c.2086C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|14/14|c.2086C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|12/14|c.2086C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|10/13|c.2104C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|12/13|c.2104C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|11/13|c.2104C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|13/13|c.2104C>T|||||| 22 37334211 . T C . . ANN=C|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|14/14|c.2379T>C|p.Pro793Pro|2596/4866|2379/2712|793/903||,C|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|14/14|c.2361T>C|p.Pro787Pro|2583/4863|2361/2694|787/897||,C|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|13/13|c.2379T>C|p.Pro793Pro|2453/2895|2379/2712|793/903||,C|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|12/12|c.2202T>C|p.Pro734Pro|2240/2765|2202/2535|734/844||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|11/14|c.2361T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|13/14|c.2361T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|14/14|c.2361T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|12/14|c.2361T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|10/13|c.2379T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|12/13|c.2379T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|11/13|c.2379T>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|13/13|c.2379T>C|||||| 22 37334250 . G A . . ANN=A|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|14/14|c.2418G>A|p.Pro806Pro|2635/4866|2418/2712|806/903||,A|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|14/14|c.2400G>A|p.Pro800Pro|2622/4863|2400/2694|800/897||,A|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|13/13|c.2418G>A|p.Pro806Pro|2492/2895|2418/2712|806/903||,A|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|12/12|c.2241G>A|p.Pro747Pro|2279/2765|2241/2535|747/844||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|11/14|c.2400G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|13/14|c.2400G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|14/14|c.2400G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|12/14|c.2400G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|10/13|c.2418G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|12/13|c.2418G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|11/13|c.2418G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|13/13|c.2418G>A|||||| 22 37334280 . C A . . ANN=A|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|14/14|c.2448C>A|p.Pro816Pro|2665/4866|2448/2712|816/903||,A|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|14/14|c.2430C>A|p.Pro810Pro|2652/4863|2430/2694|810/897||,A|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|13/13|c.2448C>A|p.Pro816Pro|2522/2895|2448/2712|816/903||,A|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|12/12|c.2271C>A|p.Pro757Pro|2309/2765|2271/2535|757/844||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|11/14|c.2430C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|13/14|c.2430C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|14/14|c.2430C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|12/14|c.2430C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|10/13|c.2448C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|12/13|c.2448C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|11/13|c.2448C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|13/13|c.2448C>A|||||| 22 37334352 . G T . . ANN=T|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|14/14|c.2520G>T|p.Ser840Ser|2737/4866|2520/2712|840/903||,T|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|14/14|c.2502G>T|p.Ser834Ser|2724/4863|2502/2694|834/897||,T|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|13/13|c.2520G>T|p.Ser840Ser|2594/2895|2520/2712|840/903||,T|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|12/12|c.2343G>T|p.Ser781Ser|2381/2765|2343/2535|781/844||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|11/14|c.2502G>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|13/14|c.2502G>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|14/14|c.2502G>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|12/14|c.2502G>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|10/13|c.2520G>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|12/13|c.2520G>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|11/13|c.2520G>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|13/13|c.2520G>T|||||| 22 37334375 . C T . . ANN=T|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|14/14|c.2543C>T|p.Pro848Leu|2760/4866|2543/2712|848/903||,T|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|14/14|c.2525C>T|p.Pro842Leu|2747/4863|2525/2694|842/897||,T|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|13/13|c.2543C>T|p.Pro848Leu|2617/2895|2543/2712|848/903||,T|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|12/12|c.2366C>T|p.Pro789Leu|2404/2765|2366/2535|789/844||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|11/14|c.2525C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|13/14|c.2525C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|14/14|c.2525C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|12/14|c.2525C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|10/13|c.2543C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|12/13|c.2543C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|11/13|c.2543C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|13/13|c.2543C>T|||||| 22 37334376 . G A . . ANN=A|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|14/14|c.2544G>A|p.Pro848Pro|2761/4866|2544/2712|848/903||,A|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|14/14|c.2526G>A|p.Pro842Pro|2748/4863|2526/2694|842/897||,A|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|13/13|c.2544G>A|p.Pro848Pro|2618/2895|2544/2712|848/903||,A|synonymous_variant|LOW|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|12/12|c.2367G>A|p.Pro789Pro|2405/2765|2367/2535|789/844||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|11/14|c.2526G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|13/14|c.2526G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|14/14|c.2526G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|12/14|c.2526G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|10/13|c.2544G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|12/13|c.2544G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|11/13|c.2544G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|13/13|c.2544G>A|||||| 22 37334383 . G A . . ANN=A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|14/14|c.2551G>A|p.Gly851Ser|2768/4866|2551/2712|851/903||,A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|14/14|c.2533G>A|p.Gly845Ser|2755/4863|2533/2694|845/897||,A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|13/13|c.2551G>A|p.Gly851Ser|2625/2895|2551/2712|851/903||,A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|12/12|c.2374G>A|p.Gly792Ser|2412/2765|2374/2535|792/844||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|11/14|c.2533G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|13/14|c.2533G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|14/14|c.2533G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|12/14|c.2533G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|10/13|c.2551G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|12/13|c.2551G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|11/13|c.2551G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|13/13|c.2551G>A|||||| 22 37334550 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|14/14|c.*6C>T|||||6|,T|3_prime_UTR_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|14/14|c.*6C>T|||||6|,T|3_prime_UTR_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|13/13|c.*6C>T|||||6|,T|3_prime_UTR_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|12/12|c.*6C>T|||||6| 22 37387226 . C G . . ANN=G|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000381821|protein_coding|6/6|c.837G>C|p.Lys279Asn|949/978|837/843|279/280||,G|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000442538|protein_coding|4/4|c.411G>C|p.Lys137Asn|412/475|411/417|137/138||WARNING_TRANSCRIPT_NO_START_CODON,G|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000402860|protein_coding|6/6|c.582G>C|p.Lys194Asn|926/986|582/588|194/195||,G|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000405091|protein_coding|7/7|c.837G>C|p.Lys279Asn|1089/1149|837/843|279/280|| 22 37387244 . G A . . ANN=A|synonymous_variant|LOW|TEX33|ENSG00000185264|transcript|ENST00000381821|protein_coding|6/6|c.819C>T|p.Ser273Ser|931/978|819/843|273/280||,A|synonymous_variant|LOW|TEX33|ENSG00000185264|transcript|ENST00000442538|protein_coding|4/4|c.393C>T|p.Ser131Ser|394/475|393/417|131/138||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|TEX33|ENSG00000185264|transcript|ENST00000402860|protein_coding|6/6|c.564C>T|p.Ser188Ser|908/986|564/588|188/195||,A|synonymous_variant|LOW|TEX33|ENSG00000185264|transcript|ENST00000405091|protein_coding|7/7|c.819C>T|p.Ser273Ser|1071/1149|819/843|273/280|| 22 37387257 . T C . . ANN=C|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000381821|protein_coding|6/6|c.806A>G|p.Tyr269Cys|918/978|806/843|269/280||,C|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000442538|protein_coding|4/4|c.380A>G|p.Tyr127Cys|381/475|380/417|127/138||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000402860|protein_coding|6/6|c.551A>G|p.Tyr184Cys|895/986|551/588|184/195||,C|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000405091|protein_coding|7/7|c.806A>G|p.Tyr269Cys|1058/1149|806/843|269/280|| 22 37387283 . G A . . ANN=A|synonymous_variant|LOW|TEX33|ENSG00000185264|transcript|ENST00000381821|protein_coding|6/6|c.780C>T|p.Asn260Asn|892/978|780/843|260/280||,A|synonymous_variant|LOW|TEX33|ENSG00000185264|transcript|ENST00000442538|protein_coding|4/4|c.354C>T|p.Asn118Asn|355/475|354/417|118/138||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|TEX33|ENSG00000185264|transcript|ENST00000402860|protein_coding|6/6|c.525C>T|p.Asn175Asn|869/986|525/588|175/195||,A|synonymous_variant|LOW|TEX33|ENSG00000185264|transcript|ENST00000405091|protein_coding|7/7|c.780C>T|p.Asn260Asn|1032/1149|780/843|260/280|| 22 37387475 . G A . . ANN=A|intron_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000381821|protein_coding|5/5|c.745+47C>T||||||,A|intron_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000442538|protein_coding|3/3|c.319+47C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000402860|protein_coding|5/5|c.490+47C>T||||||,A|intron_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000405091|protein_coding|6/6|c.745+47C>T|||||| 22 37387505 . C A . . ANN=A|intron_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000381821|protein_coding|5/5|c.745+17G>T||||||,A|intron_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000442538|protein_coding|3/3|c.319+17G>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000402860|protein_coding|5/5|c.490+17G>T||||||,A|intron_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000405091|protein_coding|6/6|c.745+17G>T|||||| 22 37387532 . C T . . ANN=T|synonymous_variant|LOW|TEX33|ENSG00000185264|transcript|ENST00000381821|protein_coding|5/6|c.735G>A|p.Thr245Thr|847/978|735/843|245/280||,T|synonymous_variant|LOW|TEX33|ENSG00000185264|transcript|ENST00000442538|protein_coding|3/4|c.309G>A|p.Thr103Thr|310/475|309/417|103/138||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|TEX33|ENSG00000185264|transcript|ENST00000402860|protein_coding|5/6|c.480G>A|p.Thr160Thr|824/986|480/588|160/195||,T|synonymous_variant|LOW|TEX33|ENSG00000185264|transcript|ENST00000405091|protein_coding|6/7|c.735G>A|p.Thr245Thr|987/1149|735/843|245/280|| 22 37387589 . T C . . ANN=C|synonymous_variant|LOW|TEX33|ENSG00000185264|transcript|ENST00000381821|protein_coding|5/6|c.678A>G|p.Thr226Thr|790/978|678/843|226/280||,C|synonymous_variant|LOW|TEX33|ENSG00000185264|transcript|ENST00000442538|protein_coding|3/4|c.252A>G|p.Thr84Thr|253/475|252/417|84/138||WARNING_TRANSCRIPT_NO_START_CODON,C|synonymous_variant|LOW|TEX33|ENSG00000185264|transcript|ENST00000402860|protein_coding|5/6|c.423A>G|p.Thr141Thr|767/986|423/588|141/195||,C|synonymous_variant|LOW|TEX33|ENSG00000185264|transcript|ENST00000405091|protein_coding|6/7|c.678A>G|p.Thr226Thr|930/1149|678/843|226/280|| 22 37387646 . T A . . ANN=A|intron_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000381821|protein_coding|4/5|c.635-14A>T||||||,A|intron_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000442538|protein_coding|2/3|c.209-14A>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000402860|protein_coding|4/5|c.380-14A>T||||||,A|intron_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000405091|protein_coding|5/6|c.635-14A>T|||||| 22 37395853 . C T . . ANN=T|intron_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000381821|protein_coding|4/5|c.634+28G>A||||||,T|intron_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000442538|protein_coding|2/3|c.208+28G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000402860|protein_coding|4/5|c.379+28G>A||||||,T|intron_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000405091|protein_coding|5/6|c.634+28G>A|||||| 22 37395935 . C T . . ANN=T|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000381821|protein_coding|4/6|c.580G>A|p.Val194Ile|692/978|580/843|194/280||,T|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000442538|protein_coding|2/4|c.154G>A|p.Val52Ile|155/475|154/417|52/138||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000402860|protein_coding|4/6|c.325G>A|p.Val109Ile|669/986|325/588|109/195||,T|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000405091|protein_coding|5/7|c.580G>A|p.Val194Ile|832/1149|580/843|194/280|| 22 37395975 . T C . . ANN=C|synonymous_variant|LOW|TEX33|ENSG00000185264|transcript|ENST00000381821|protein_coding|4/6|c.540A>G|p.Ser180Ser|652/978|540/843|180/280||,C|synonymous_variant|LOW|TEX33|ENSG00000185264|transcript|ENST00000442538|protein_coding|2/4|c.114A>G|p.Ser38Ser|115/475|114/417|38/138||WARNING_TRANSCRIPT_NO_START_CODON,C|synonymous_variant|LOW|TEX33|ENSG00000185264|transcript|ENST00000402860|protein_coding|4/6|c.285A>G|p.Ser95Ser|629/986|285/588|95/195||,C|synonymous_variant|LOW|TEX33|ENSG00000185264|transcript|ENST00000405091|protein_coding|5/7|c.540A>G|p.Ser180Ser|792/1149|540/843|180/280|| 22 37395999 . G A . . ANN=A|synonymous_variant|LOW|TEX33|ENSG00000185264|transcript|ENST00000381821|protein_coding|4/6|c.516C>T|p.Phe172Phe|628/978|516/843|172/280||,A|synonymous_variant|LOW|TEX33|ENSG00000185264|transcript|ENST00000442538|protein_coding|2/4|c.90C>T|p.Phe30Phe|91/475|90/417|30/138||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|TEX33|ENSG00000185264|transcript|ENST00000402860|protein_coding|4/6|c.261C>T|p.Phe87Phe|605/986|261/588|87/195||,A|synonymous_variant|LOW|TEX33|ENSG00000185264|transcript|ENST00000405091|protein_coding|5/7|c.516C>T|p.Phe172Phe|768/1149|516/843|172/280|| 22 37396024 . G C . . ANN=C|missense_variant&splice_region_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000381821|protein_coding|4/6|c.491C>G|p.Ala164Gly|603/978|491/843|164/280||,C|missense_variant&splice_region_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000442538|protein_coding|2/4|c.65C>G|p.Ala22Gly|66/475|65/417|22/138||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant&splice_region_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000402860|protein_coding|4/6|c.236C>G|p.Ala79Gly|580/986|236/588|79/195||,C|missense_variant&splice_region_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000405091|protein_coding|5/7|c.491C>G|p.Ala164Gly|743/1149|491/843|164/280|| 22 37396053 . A G . . ANN=G|intron_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000381821|protein_coding|3/5|c.490-28T>C||||||,G|intron_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000442538|protein_coding|1/3|c.64-28T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000402860|protein_coding|3/5|c.235-28T>C||||||,G|intron_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000405091|protein_coding|4/6|c.490-28T>C|||||| 22 37396054 . G A . . ANN=A|intron_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000381821|protein_coding|3/5|c.490-29C>T||||||,A|intron_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000442538|protein_coding|1/3|c.64-29C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000402860|protein_coding|3/5|c.235-29C>T||||||,A|intron_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000405091|protein_coding|4/6|c.490-29C>T|||||| 22 37397859 . C T . . ANN=T|intron_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000381821|protein_coding|3/5|c.489+19G>A||||||,T|intron_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000442538|protein_coding|1/3|c.63+375G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000402860|protein_coding|3/5|c.234+19G>A||||||,T|intron_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000405091|protein_coding|4/6|c.489+19G>A|||||| 22 37397876 . A G . . ANN=G|splice_donor_variant&intron_variant|HIGH|TEX33|ENSG00000185264|transcript|ENST00000381821|protein_coding|3/5|c.489+2T>C||||||,G|splice_donor_variant&intron_variant|HIGH|TEX33|ENSG00000185264|transcript|ENST00000402860|protein_coding|3/5|c.234+2T>C||||||,G|splice_donor_variant&intron_variant|HIGH|TEX33|ENSG00000185264|transcript|ENST00000405091|protein_coding|4/6|c.489+2T>C||||||,G|intron_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000442538|protein_coding|1/3|c.63+358T>C||||||WARNING_TRANSCRIPT_NO_START_CODON;LOF=(TEX33|ENSG00000185264|4|0.75) 22 37397896 . C T . . ANN=T|synonymous_variant|LOW|TEX33|ENSG00000185264|transcript|ENST00000381821|protein_coding|3/6|c.471G>A|p.Gln157Gln|583/978|471/843|157/280||,T|synonymous_variant|LOW|TEX33|ENSG00000185264|transcript|ENST00000402860|protein_coding|3/6|c.216G>A|p.Gln72Gln|560/986|216/588|72/195||,T|synonymous_variant|LOW|TEX33|ENSG00000185264|transcript|ENST00000405091|protein_coding|4/7|c.471G>A|p.Gln157Gln|723/1149|471/843|157/280||,T|intron_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000442538|protein_coding|1/3|c.63+338G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 37397934 . T C . . ANN=C|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000381821|protein_coding|3/6|c.433A>G|p.Asn145Asp|545/978|433/843|145/280||,C|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000402860|protein_coding|3/6|c.178A>G|p.Asn60Asp|522/986|178/588|60/195||,C|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000405091|protein_coding|4/7|c.433A>G|p.Asn145Asp|685/1149|433/843|145/280||,C|intron_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000442538|protein_coding|1/3|c.63+300A>G||||||WARNING_TRANSCRIPT_NO_START_CODON 22 37397942 . A C . . ANN=C|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000381821|protein_coding|3/6|c.425T>G|p.Ile142Ser|537/978|425/843|142/280||,C|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000402860|protein_coding|3/6|c.170T>G|p.Ile57Ser|514/986|170/588|57/195||,C|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000405091|protein_coding|4/7|c.425T>G|p.Ile142Ser|677/1149|425/843|142/280||,C|intron_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000442538|protein_coding|1/3|c.63+292T>G||||||WARNING_TRANSCRIPT_NO_START_CODON 22 37397996 . C T . . ANN=T|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000381821|protein_coding|3/6|c.371G>A|p.Ser124Asn|483/978|371/843|124/280||,T|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000402860|protein_coding|3/6|c.116G>A|p.Ser39Asn|460/986|116/588|39/195||,T|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000405091|protein_coding|4/7|c.371G>A|p.Ser124Asn|623/1149|371/843|124/280||,T|intron_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000442538|protein_coding|1/3|c.63+238G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 37398011 . G A . . ANN=A|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000381821|protein_coding|3/6|c.356C>T|p.Thr119Met|468/978|356/843|119/280||,A|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000402860|protein_coding|3/6|c.101C>T|p.Thr34Met|445/986|101/588|34/195||,A|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000405091|protein_coding|4/7|c.356C>T|p.Thr119Met|608/1149|356/843|119/280||,A|intron_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000442538|protein_coding|1/3|c.63+223C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 37398040 . C T . . ANN=T|synonymous_variant|LOW|TEX33|ENSG00000185264|transcript|ENST00000381821|protein_coding|3/6|c.327G>A|p.Ser109Ser|439/978|327/843|109/280||,T|synonymous_variant|LOW|TEX33|ENSG00000185264|transcript|ENST00000402860|protein_coding|3/6|c.72G>A|p.Ser24Ser|416/986|72/588|24/195||,T|synonymous_variant|LOW|TEX33|ENSG00000185264|transcript|ENST00000405091|protein_coding|4/7|c.327G>A|p.Ser109Ser|579/1149|327/843|109/280||,T|intron_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000442538|protein_coding|1/3|c.63+194G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 37398041 . G A . . ANN=A|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000381821|protein_coding|3/6|c.326C>T|p.Ser109Leu|438/978|326/843|109/280||,A|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000402860|protein_coding|3/6|c.71C>T|p.Ser24Leu|415/986|71/588|24/195||,A|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000405091|protein_coding|4/7|c.326C>T|p.Ser109Leu|578/1149|326/843|109/280||,A|intron_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000442538|protein_coding|1/3|c.63+193C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 37398062 . G A . . ANN=A|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000381821|protein_coding|3/6|c.305C>T|p.Ser102Leu|417/978|305/843|102/280||,A|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000402860|protein_coding|3/6|c.50C>T|p.Ser17Leu|394/986|50/588|17/195||,A|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000405091|protein_coding|4/7|c.305C>T|p.Ser102Leu|557/1149|305/843|102/280||,A|intron_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000442538|protein_coding|1/3|c.63+172C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 37398102 . G A . . ANN=A|stop_gained|HIGH|TEX33|ENSG00000185264|transcript|ENST00000381821|protein_coding|3/6|c.265C>T|p.Gln89*|377/978|265/843|89/280||,A|stop_gained|HIGH|TEX33|ENSG00000185264|transcript|ENST00000402860|protein_coding|3/6|c.10C>T|p.Gln4*|354/986|10/588|4/195||,A|stop_gained|HIGH|TEX33|ENSG00000185264|transcript|ENST00000405091|protein_coding|4/7|c.265C>T|p.Gln89*|517/1149|265/843|89/280||,A|intron_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000442538|protein_coding|1/3|c.63+132C>T||||||WARNING_TRANSCRIPT_NO_START_CODON;LOF=(TEX33|ENSG00000185264|4|0.75);NMD=(TEX33|ENSG00000185264|4|0.75) 22 37398140 . G A . . ANN=A|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000381821|protein_coding|3/6|c.227C>T|p.Pro76Leu|339/978|227/843|76/280||,A|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000405091|protein_coding|4/7|c.227C>T|p.Pro76Leu|479/1149|227/843|76/280||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|TEX33|ENSG00000185264|transcript|ENST00000402860|protein_coding|3/6|c.-29C>T||||||,A|5_prime_UTR_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000402860|protein_coding|3/6|c.-29C>T|||||29|,A|intron_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000442538|protein_coding|1/3|c.63+94C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 37407020 . G C . . ANN=C|3_prime_UTR_variant|MODIFIER|TST|ENSG00000128311|transcript|ENST00000249042|protein_coding|3/3|c.*48C>G|||||48|,C|3_prime_UTR_variant|MODIFIER|TST|ENSG00000128311|transcript|ENST00000403892|protein_coding|2/2|c.*48C>G|||||48|,C|upstream_gene_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000381821|protein_coding||c.-113C>G|||||3177|,C|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000252412|transcript|ENST00000516603|misc_RNA||n.-1G>C|||||2246|,C|upstream_gene_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000402860|protein_coding||c.-345C>G|||||3181|,C|upstream_gene_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000405091|protein_coding||c.-253C>G|||||3138| 22 37407064 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|TST|ENSG00000128311|transcript|ENST00000249042|protein_coding|3/3|c.*4G>A|||||4|,T|3_prime_UTR_variant|MODIFIER|TST|ENSG00000128311|transcript|ENST00000403892|protein_coding|2/2|c.*4G>A|||||4|,T|upstream_gene_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000381821|protein_coding||c.-113G>A|||||3221|,T|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000252412|transcript|ENST00000516603|misc_RNA||n.-1C>T|||||2202|,T|upstream_gene_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000402860|protein_coding||c.-345G>A|||||3225|,T|upstream_gene_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000405091|protein_coding||c.-253G>A|||||3182| 22 37407084 . T C . . ANN=C|missense_variant|MODERATE|TST|ENSG00000128311|transcript|ENST00000249042|protein_coding|3/3|c.878A>G|p.Lys293Arg|1027/1211|878/894|293/297||,C|missense_variant|MODERATE|TST|ENSG00000128311|transcript|ENST00000403892|protein_coding|2/2|c.878A>G|p.Lys293Arg|1613/1797|878/894|293/297||,C|upstream_gene_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000381821|protein_coding||c.-113A>G|||||3241|,C|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000252412|transcript|ENST00000516603|misc_RNA||n.-1T>C|||||2182|,C|upstream_gene_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000402860|protein_coding||c.-345A>G|||||3245|,C|upstream_gene_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000405091|protein_coding||c.-253A>G|||||3202| 22 37407100 . G A . . ANN=A|missense_variant|MODERATE|TST|ENSG00000128311|transcript|ENST00000249042|protein_coding|3/3|c.862C>T|p.Arg288Cys|1011/1211|862/894|288/297||,A|missense_variant|MODERATE|TST|ENSG00000128311|transcript|ENST00000403892|protein_coding|2/2|c.862C>T|p.Arg288Cys|1597/1797|862/894|288/297||,A|sequence_feature|LOW|TST|ENSG00000128311|domain:Rhodanese_2|ENST00000249042|protein_coding|2/3|c.862C>T||||||,A|sequence_feature|LOW|TST|ENSG00000128311|domain:Rhodanese_2|ENST00000249042|protein_coding|3/3|c.862C>T||||||,A|upstream_gene_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000381821|protein_coding||c.-113C>T|||||3257|,A|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000252412|transcript|ENST00000516603|misc_RNA||n.-1G>A|||||2166|,A|upstream_gene_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000402860|protein_coding||c.-345C>T|||||3261|,A|upstream_gene_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000405091|protein_coding||c.-253C>T|||||3218| 22 37407109 . G C . . ANN=C|missense_variant|MODERATE|TST|ENSG00000128311|transcript|ENST00000249042|protein_coding|3/3|c.853C>G|p.Pro285Ala|1002/1211|853/894|285/297||,C|missense_variant|MODERATE|TST|ENSG00000128311|transcript|ENST00000403892|protein_coding|2/2|c.853C>G|p.Pro285Ala|1588/1797|853/894|285/297||,C|sequence_feature|LOW|TST|ENSG00000128311|domain:Rhodanese_2|ENST00000249042|protein_coding|2/3|c.853C>G||||||,C|sequence_feature|LOW|TST|ENSG00000128311|domain:Rhodanese_2|ENST00000249042|protein_coding|3/3|c.853C>G||||||,C|upstream_gene_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000381821|protein_coding||c.-113C>G|||||3266|,C|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000252412|transcript|ENST00000516603|misc_RNA||n.-1G>C|||||2157|,C|upstream_gene_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000402860|protein_coding||c.-345C>G|||||3270|,C|upstream_gene_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000405091|protein_coding||c.-253C>G|||||3227| 22 37407131 . G A . . ANN=A|synonymous_variant|LOW|TST|ENSG00000128311|transcript|ENST00000249042|protein_coding|3/3|c.831C>T|p.Ser277Ser|980/1211|831/894|277/297||,A|synonymous_variant|LOW|TST|ENSG00000128311|transcript|ENST00000403892|protein_coding|2/2|c.831C>T|p.Ser277Ser|1566/1797|831/894|277/297||,A|sequence_feature|LOW|TST|ENSG00000128311|domain:Rhodanese_2|ENST00000249042|protein_coding|2/3|c.831C>T||||||,A|sequence_feature|LOW|TST|ENSG00000128311|domain:Rhodanese_2|ENST00000249042|protein_coding|3/3|c.831C>T||||||,A|upstream_gene_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000381821|protein_coding||c.-113C>T|||||3288|,A|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000252412|transcript|ENST00000516603|misc_RNA||n.-1G>A|||||2135|,A|upstream_gene_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000402860|protein_coding||c.-345C>T|||||3292|,A|upstream_gene_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000405091|protein_coding||c.-253C>T|||||3249| 22 37407170 . G A . . ANN=A|synonymous_variant|LOW|TST|ENSG00000128311|transcript|ENST00000249042|protein_coding|3/3|c.792C>T|p.Cys264Cys|941/1211|792/894|264/297||,A|synonymous_variant|LOW|TST|ENSG00000128311|transcript|ENST00000403892|protein_coding|2/2|c.792C>T|p.Cys264Cys|1527/1797|792/894|264/297||,A|sequence_feature|LOW|TST|ENSG00000128311|domain:Rhodanese_2|ENST00000249042|protein_coding|2/3|c.792C>T||||||,A|sequence_feature|LOW|TST|ENSG00000128311|domain:Rhodanese_2|ENST00000249042|protein_coding|3/3|c.792C>T||||||,A|upstream_gene_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000381821|protein_coding||c.-113C>T|||||3327|,A|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000252412|transcript|ENST00000516603|misc_RNA||n.-1G>A|||||2096|,A|upstream_gene_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000402860|protein_coding||c.-345C>T|||||3331|,A|upstream_gene_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000405091|protein_coding||c.-253C>T|||||3288| 22 37407194 . G A . . ANN=A|synonymous_variant|LOW|TST|ENSG00000128311|transcript|ENST00000249042|protein_coding|3/3|c.768C>T|p.His256His|917/1211|768/894|256/297||,A|synonymous_variant|LOW|TST|ENSG00000128311|transcript|ENST00000403892|protein_coding|2/2|c.768C>T|p.His256His|1503/1797|768/894|256/297||,A|sequence_feature|LOW|TST|ENSG00000128311|domain:Rhodanese_2|ENST00000249042|protein_coding|2/3|c.768C>T||||||,A|sequence_feature|LOW|TST|ENSG00000128311|domain:Rhodanese_2|ENST00000249042|protein_coding|3/3|c.768C>T||||||,A|upstream_gene_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000381821|protein_coding||c.-113C>T|||||3351|,A|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000252412|transcript|ENST00000516603|misc_RNA||n.-1G>A|||||2072|,A|upstream_gene_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000402860|protein_coding||c.-345C>T|||||3355|,A|upstream_gene_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000405091|protein_coding||c.-253C>T|||||3312| 22 37407216 . C T . . ANN=T|missense_variant|MODERATE|TST|ENSG00000128311|transcript|ENST00000249042|protein_coding|3/3|c.746G>A|p.Arg249His|895/1211|746/894|249/297||,T|missense_variant|MODERATE|TST|ENSG00000128311|transcript|ENST00000403892|protein_coding|2/2|c.746G>A|p.Arg249His|1481/1797|746/894|249/297||,T|sequence_feature|LOW|TST|ENSG00000128311|domain:Rhodanese_2|ENST00000249042|protein_coding|2/3|c.746G>A||||||,T|sequence_feature|LOW|TST|ENSG00000128311|domain:Rhodanese_2|ENST00000249042|protein_coding|3/3|c.746G>A||||||,T|upstream_gene_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000381821|protein_coding||c.-113G>A|||||3373|,T|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000252412|transcript|ENST00000516603|misc_RNA||n.-1C>T|||||2050|,T|upstream_gene_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000402860|protein_coding||c.-345G>A|||||3377|,T|upstream_gene_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000405091|protein_coding||c.-253G>A|||||3334| 22 37407344 . A G . . ANN=G|synonymous_variant|LOW|TST|ENSG00000128311|transcript|ENST00000249042|protein_coding|3/3|c.618T>C|p.Arg206Arg|767/1211|618/894|206/297||,G|synonymous_variant|LOW|TST|ENSG00000128311|transcript|ENST00000403892|protein_coding|2/2|c.618T>C|p.Arg206Arg|1353/1797|618/894|206/297||,G|sequence_feature|LOW|TST|ENSG00000128311|domain:Rhodanese_2|ENST00000249042|protein_coding|2/3|c.618T>C||||||,G|sequence_feature|LOW|TST|ENSG00000128311|domain:Rhodanese_2|ENST00000249042|protein_coding|3/3|c.618T>C||||||,G|upstream_gene_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000381821|protein_coding||c.-113T>C|||||3501|,G|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000252412|transcript|ENST00000516603|misc_RNA||n.-1A>G|||||1922|,G|upstream_gene_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000402860|protein_coding||c.-345T>C|||||3505|,G|upstream_gene_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000405091|protein_coding||c.-253T>C|||||3462| 22 37407346 . G A . . ANN=A|missense_variant|MODERATE|TST|ENSG00000128311|transcript|ENST00000249042|protein_coding|3/3|c.616C>T|p.Arg206Cys|765/1211|616/894|206/297||,A|missense_variant|MODERATE|TST|ENSG00000128311|transcript|ENST00000403892|protein_coding|2/2|c.616C>T|p.Arg206Cys|1351/1797|616/894|206/297||,A|sequence_feature|LOW|TST|ENSG00000128311|domain:Rhodanese_2|ENST00000249042|protein_coding|2/3|c.616C>T||||||,A|sequence_feature|LOW|TST|ENSG00000128311|domain:Rhodanese_2|ENST00000249042|protein_coding|3/3|c.616C>T||||||,A|upstream_gene_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000381821|protein_coding||c.-113C>T|||||3503|,A|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000252412|transcript|ENST00000516603|misc_RNA||n.-1G>A|||||1920|,A|upstream_gene_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000402860|protein_coding||c.-345C>T|||||3507|,A|upstream_gene_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000405091|protein_coding||c.-253C>T|||||3464| 22 37414298 . C T . . ANN=T|missense_variant|MODERATE|TST|ENSG00000128311|transcript|ENST00000249042|protein_coding|2/3|c.476G>A|p.Arg159His|625/1211|476/894|159/297||,T|missense_variant|MODERATE|TST|ENSG00000128311|transcript|ENST00000403892|protein_coding|1/2|c.476G>A|p.Arg159His|1211/1797|476/894|159/297||,T|sequence_feature|LOW|TST|ENSG00000128311|region_of_interest:Hinge|ENST00000249042|protein_coding|2/3|c.476G>A||||||,T|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000397129|protein_coding||c.-177C>T|||||1404|,T|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000401419|protein_coding||c.-165C>T|||||1378|,T|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000404802|protein_coding||c.-280C>T|||||1439|,T|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000341116|protein_coding||c.-306C>T|||||1511|,T|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000429360|protein_coding||c.-130C>T|||||1511|,T|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000404393|protein_coding||c.-28C>T|||||1515|,T|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000485587|retained_intron||n.-1C>T|||||1541|,T|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000397225|protein_coding||c.-916C>T|||||4780|,T|downstream_gene_variant|MODIFIER|Y_RNA|ENSG00000252412|transcript|ENST00000516603|misc_RNA||n.*95C>T|||||4938|,T|downstream_gene_variant|MODIFIER|TST|ENSG00000128311|transcript|ENST00000438203|protein_coding||c.*451G>A|||||104|WARNING_TRANSCRIPT_NO_STOP_CODON 22 37414326 . G A . . ANN=A|missense_variant|MODERATE|TST|ENSG00000128311|transcript|ENST00000249042|protein_coding|2/3|c.448C>T|p.Pro150Ser|597/1211|448/894|150/297||,A|missense_variant|MODERATE|TST|ENSG00000128311|transcript|ENST00000403892|protein_coding|1/2|c.448C>T|p.Pro150Ser|1183/1797|448/894|150/297||,A|sequence_feature|LOW|TST|ENSG00000128311|region_of_interest:Hinge|ENST00000249042|protein_coding|2/3|c.448C>T||||||,A|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000397129|protein_coding||c.-177G>A|||||1376|,A|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000401419|protein_coding||c.-165G>A|||||1350|,A|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000404802|protein_coding||c.-280G>A|||||1411|,A|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000341116|protein_coding||c.-306G>A|||||1483|,A|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000429360|protein_coding||c.-130G>A|||||1483|,A|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000404393|protein_coding||c.-28G>A|||||1487|,A|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000485587|retained_intron||n.-1G>A|||||1513|,A|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000397225|protein_coding||c.-916G>A|||||4752|,A|downstream_gene_variant|MODIFIER|Y_RNA|ENSG00000252412|transcript|ENST00000516603|misc_RNA||n.*95G>A|||||4966|,A|downstream_gene_variant|MODIFIER|TST|ENSG00000128311|transcript|ENST00000438203|protein_coding||c.*451C>T|||||76|WARNING_TRANSCRIPT_NO_STOP_CODON 22 37414468 . T G . . ANN=G|missense_variant|MODERATE|TST|ENSG00000128311|transcript|ENST00000249042|protein_coding|2/3|c.306A>C|p.Glu102Asp|455/1211|306/894|102/297||,G|missense_variant|MODERATE|TST|ENSG00000128311|transcript|ENST00000403892|protein_coding|1/2|c.306A>C|p.Glu102Asp|1041/1797|306/894|102/297||,G|missense_variant|MODERATE|TST|ENSG00000128311|transcript|ENST00000438203|protein_coding|2/2|c.306A>C|p.Glu102Asp|385/451|306/372|102/123||WARNING_TRANSCRIPT_NO_STOP_CODON,G|sequence_feature|LOW|TST|ENSG00000128311|domain:Rhodanese_1|ENST00000249042|protein_coding|2/3|c.306A>C||||||,G|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000397129|protein_coding||c.-177T>G|||||1234|,G|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000401419|protein_coding||c.-165T>G|||||1208|,G|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000404802|protein_coding||c.-280T>G|||||1269|,G|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000341116|protein_coding||c.-306T>G|||||1341|,G|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000429360|protein_coding||c.-130T>G|||||1341|,G|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000404393|protein_coding||c.-28T>G|||||1345|,G|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000485587|retained_intron||n.-1T>G|||||1371|,G|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000397225|protein_coding||c.-916T>G|||||4610| 22 37414528 . G A . . ANN=A|synonymous_variant|LOW|TST|ENSG00000128311|transcript|ENST00000249042|protein_coding|2/3|c.246C>T|p.Ala82Ala|395/1211|246/894|82/297||,A|synonymous_variant|LOW|TST|ENSG00000128311|transcript|ENST00000403892|protein_coding|1/2|c.246C>T|p.Ala82Ala|981/1797|246/894|82/297||,A|synonymous_variant|LOW|TST|ENSG00000128311|transcript|ENST00000438203|protein_coding|2/2|c.246C>T|p.Ala82Ala|325/451|246/372|82/123||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|TST|ENSG00000128311|domain:Rhodanese_1|ENST00000249042|protein_coding|2/3|c.246C>T||||||,A|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000397129|protein_coding||c.-177G>A|||||1174|,A|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000401419|protein_coding||c.-165G>A|||||1148|,A|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000404802|protein_coding||c.-280G>A|||||1209|,A|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000341116|protein_coding||c.-306G>A|||||1281|,A|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000429360|protein_coding||c.-130G>A|||||1281|,A|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000404393|protein_coding||c.-28G>A|||||1285|,A|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000485587|retained_intron||n.-1G>A|||||1311|,A|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000397225|protein_coding||c.-916G>A|||||4550| 22 37414801 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|TST|ENSG00000128311|transcript|ENST00000249042|protein_coding|1/2|c.-21-7G>A||||||,T|splice_region_variant&intron_variant|LOW|TST|ENSG00000128311|transcript|ENST00000438203|protein_coding|1/1|c.-21-7G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|TST|ENSG00000128311|transcript|ENST00000403892|protein_coding|1/2|c.-28G>A||||||,T|5_prime_UTR_variant|MODIFIER|TST|ENSG00000128311|transcript|ENST00000403892|protein_coding|1/2|c.-28G>A|||||28|,T|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000397129|protein_coding||c.-177C>T|||||901|,T|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000401419|protein_coding||c.-165C>T|||||875|,T|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000404802|protein_coding||c.-280C>T|||||936|,T|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000341116|protein_coding||c.-306C>T|||||1008|,T|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000429360|protein_coding||c.-130C>T|||||1008|,T|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000404393|protein_coding||c.-28C>T|||||1012|,T|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000485587|retained_intron||n.-1C>T|||||1038|,T|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000397225|protein_coding||c.-916C>T|||||4277| 22 37415963 . C T . . ANN=T|upstream_gene_variant|MODIFIER|TST|ENSG00000128311|transcript|ENST00000249042|protein_coding||c.-150G>A|||||395|,T|upstream_gene_variant|MODIFIER|TST|ENSG00000128311|transcript|ENST00000403892|protein_coding||c.-736G>A|||||455|,T|upstream_gene_variant|MODIFIER|TST|ENSG00000128311|transcript|ENST00000438203|protein_coding||c.-80G>A|||||282|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000397225|protein_coding||c.-916C>T|||||3115|,T|intron_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000397129|protein_coding|1/2|c.36+50C>T||||||,T|intron_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000401419|protein_coding|1/2|c.-25+148C>T||||||,T|intron_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000404802|protein_coding|1/3|c.-201+148C>T||||||,T|intron_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000341116|protein_coding|1/3|c.-201+50C>T||||||,T|intron_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000429360|protein_coding|1/2|c.-25+50C>T||||||,T|intron_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000404393|protein_coding|1/3|c.-25+148C>T||||||,T|intron_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000485587|retained_intron|1/2|n.75+50C>T|||||| 22 37420504 . C T . . ANN=T|missense_variant|MODERATE|MPST|ENSG00000128309|transcript|ENST00000397129|protein_coding|2/3|c.308C>T|p.Ala103Val|484/1437|308/954|103/317||,T|missense_variant|MODERATE|MPST|ENSG00000128309|transcript|ENST00000401419|protein_coding|2/3|c.248C>T|p.Ala83Val|412/1345|248/894|83/297||,T|missense_variant|MODERATE|MPST|ENSG00000128309|transcript|ENST00000404802|protein_coding|3/4|c.248C>T|p.Ala83Val|527/1453|248/894|83/297||,T|missense_variant|MODERATE|MPST|ENSG00000128309|transcript|ENST00000341116|protein_coding|3/4|c.248C>T|p.Ala83Val|553/1504|248/894|83/297||,T|missense_variant|MODERATE|MPST|ENSG00000128309|transcript|ENST00000429360|protein_coding|2/3|c.248C>T|p.Ala83Val|377/1331|248/894|83/297||,T|missense_variant|MODERATE|MPST|ENSG00000128309|transcript|ENST00000404393|protein_coding|2/4|c.248C>T|p.Ala83Val|275/1329|248/675|83/224||,T|missense_variant|MODERATE|MPST|ENSG00000128309|transcript|ENST00000397225|protein_coding|2/3|c.248C>T|p.Ala83Val|1163/2116|248/894|83/297||,T|sequence_feature|LOW|MPST|ENSG00000128309|domain:Rhodanese_1|ENST00000429360|protein_coding|2/3|c.248C>T||||||,T|sequence_feature|LOW|MPST|ENSG00000128309|helix|ENST00000429360|protein_coding|2/3|c.248C>T||||||,T|upstream_gene_variant|MODIFIER|TST|ENSG00000128311|transcript|ENST00000249042|protein_coding||c.-150G>A|||||4936|,T|upstream_gene_variant|MODIFIER|TST|ENSG00000128311|transcript|ENST00000403892|protein_coding||c.-736G>A|||||4996|,T|upstream_gene_variant|MODIFIER|TST|ENSG00000128311|transcript|ENST00000438203|protein_coding||c.-80G>A|||||4823|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000485587|retained_intron|3/3|n.523C>T|||||| 22 37420713 . G A . . ANN=A|missense_variant|MODERATE|MPST|ENSG00000128309|transcript|ENST00000397129|protein_coding|2/3|c.517G>A|p.Glu173Lys|693/1437|517/954|173/317||,A|missense_variant|MODERATE|MPST|ENSG00000128309|transcript|ENST00000401419|protein_coding|2/3|c.457G>A|p.Glu153Lys|621/1345|457/894|153/297||,A|missense_variant|MODERATE|MPST|ENSG00000128309|transcript|ENST00000404802|protein_coding|3/4|c.457G>A|p.Glu153Lys|736/1453|457/894|153/297||,A|missense_variant|MODERATE|MPST|ENSG00000128309|transcript|ENST00000341116|protein_coding|3/4|c.457G>A|p.Glu153Lys|762/1504|457/894|153/297||,A|missense_variant|MODERATE|MPST|ENSG00000128309|transcript|ENST00000429360|protein_coding|2/3|c.457G>A|p.Glu153Lys|586/1331|457/894|153/297||,A|missense_variant|MODERATE|MPST|ENSG00000128309|transcript|ENST00000404393|protein_coding|2/4|c.457G>A|p.Glu153Lys|484/1329|457/675|153/224||,A|missense_variant|MODERATE|MPST|ENSG00000128309|transcript|ENST00000397225|protein_coding|2/3|c.457G>A|p.Glu153Lys|1372/2116|457/894|153/297||,A|sequence_feature|LOW|MPST|ENSG00000128309|region_of_interest:Hinge|ENST00000429360|protein_coding|2/3|c.457G>A||||||,A|non_coding_exon_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000485587|retained_intron|3/3|n.732G>A|||||| 22 37420890 . C T . . ANN=T|sequence_feature|LOW|MPST|ENSG00000128309|domain:Rhodanese_2|ENST00000429360|protein_coding|2/3|c.595+39C>T||||||,T|sequence_feature|LOW|MPST|ENSG00000128309|domain:Rhodanese_2|ENST00000429360|protein_coding|3/3|c.595+39C>T||||||,T|intron_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000397129|protein_coding|2/2|c.655+39C>T||||||,T|intron_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000401419|protein_coding|2/2|c.595+39C>T||||||,T|intron_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000404802|protein_coding|3/3|c.595+39C>T||||||,T|intron_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000341116|protein_coding|3/3|c.595+39C>T||||||,T|intron_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000429360|protein_coding|2/2|c.595+39C>T||||||,T|intron_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000404393|protein_coding|2/3|c.595+39C>T||||||,T|intron_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000397225|protein_coding|2/2|c.595+39C>T||||||,T|non_coding_exon_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000485587|retained_intron|3/3|n.909C>T|||||| 22 37425508 . G A . . ANN=A|missense_variant|MODERATE|MPST|ENSG00000128309|transcript|ENST00000397129|protein_coding|3/3|c.907G>A|p.Ala303Thr|1083/1437|907/954|303/317||,A|missense_variant|MODERATE|MPST|ENSG00000128309|transcript|ENST00000401419|protein_coding|3/3|c.847G>A|p.Ala283Thr|1011/1345|847/894|283/297||,A|missense_variant|MODERATE|MPST|ENSG00000128309|transcript|ENST00000404802|protein_coding|4/4|c.847G>A|p.Ala283Thr|1126/1453|847/894|283/297||,A|missense_variant|MODERATE|MPST|ENSG00000128309|transcript|ENST00000341116|protein_coding|4/4|c.847G>A|p.Ala283Thr|1152/1504|847/894|283/297||,A|missense_variant|MODERATE|MPST|ENSG00000128309|transcript|ENST00000429360|protein_coding|3/3|c.847G>A|p.Ala283Thr|976/1331|847/894|283/297||,A|missense_variant|MODERATE|MPST|ENSG00000128309|transcript|ENST00000397225|protein_coding|3/3|c.847G>A|p.Ala283Thr|1762/2116|847/894|283/297||,A|sequence_feature|LOW|MPST|ENSG00000128309|domain:Rhodanese_2|ENST00000429360|protein_coding|2/3|c.847G>A||||||,A|sequence_feature|LOW|MPST|ENSG00000128309|domain:Rhodanese_2|ENST00000429360|protein_coding|3/3|c.847G>A||||||,A|sequence_feature|LOW|MPST|ENSG00000128309|helix|ENST00000429360|protein_coding|3/3|c.847G>A||||||,A|3_prime_UTR_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000404393|protein_coding|4/4|c.*298G>A|||||4386|,A|non_coding_exon_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000485587|retained_intron|3/3|n.5527G>A|||||| 22 37425564 . A G . . ANN=G|3_prime_UTR_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000397129|protein_coding|3/3|c.*9A>G|||||9|,G|3_prime_UTR_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000401419|protein_coding|3/3|c.*9A>G|||||9|,G|3_prime_UTR_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000404802|protein_coding|4/4|c.*9A>G|||||9|,G|3_prime_UTR_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000341116|protein_coding|4/4|c.*9A>G|||||9|,G|3_prime_UTR_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000429360|protein_coding|3/3|c.*9A>G|||||9|,G|3_prime_UTR_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000404393|protein_coding|4/4|c.*354A>G|||||4442|,G|3_prime_UTR_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000397225|protein_coding|3/3|c.*9A>G|||||9|,G|non_coding_exon_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000485587|retained_intron|3/3|n.5583A>G|||||| 22 37425590 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000397129|protein_coding|3/3|c.*35C>T|||||35|,T|3_prime_UTR_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000401419|protein_coding|3/3|c.*35C>T|||||35|,T|3_prime_UTR_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000404802|protein_coding|4/4|c.*35C>T|||||35|,T|3_prime_UTR_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000341116|protein_coding|4/4|c.*35C>T|||||35|,T|3_prime_UTR_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000429360|protein_coding|3/3|c.*35C>T|||||35|,T|3_prime_UTR_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000404393|protein_coding|4/4|c.*380C>T|||||4468|,T|3_prime_UTR_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000397225|protein_coding|3/3|c.*35C>T|||||35|,T|non_coding_exon_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000485587|retained_intron|3/3|n.5609C>T|||||| 22 37425591 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000397129|protein_coding|3/3|c.*36G>A|||||36|,A|3_prime_UTR_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000401419|protein_coding|3/3|c.*36G>A|||||36|,A|3_prime_UTR_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000404802|protein_coding|4/4|c.*36G>A|||||36|,A|3_prime_UTR_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000341116|protein_coding|4/4|c.*36G>A|||||36|,A|3_prime_UTR_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000429360|protein_coding|3/3|c.*36G>A|||||36|,A|3_prime_UTR_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000404393|protein_coding|4/4|c.*381G>A|||||4469|,A|3_prime_UTR_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000397225|protein_coding|3/3|c.*36G>A|||||36|,A|non_coding_exon_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000485587|retained_intron|3/3|n.5610G>A|||||| 22 37448020 . C T . . ANN=T|sequence_feature|LOW|KCTD17|ENSG00000100379|domain:BTB|ENST00000403888|protein_coding|1/9|c.210+31C>T||||||,T|sequence_feature|LOW|KCTD17|ENSG00000100379|domain:BTB|ENST00000403888|protein_coding|2/9|c.210+31C>T||||||,T|sequence_feature|LOW|KCTD17|ENSG00000100379|domain:BTB|ENST00000402077|protein_coding|1/8|c.210+31C>T||||||,T|sequence_feature|LOW|KCTD17|ENSG00000100379|domain:BTB|ENST00000402077|protein_coding|2/8|c.210+31C>T||||||,T|upstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000431531|protein_coding||c.-371C>T|||||190|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000478231|retained_intron||n.-1C>T|||||1085|,T|downstream_gene_variant|MODIFIER|RN7SKP214|ENSG00000201078|transcript|ENST00000364208|misc_RNA||n.*315G>A|||||3053|,T|intron_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000403888|protein_coding|1/8|c.210+31C>T||||||,T|intron_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000402077|protein_coding|1/7|c.210+31C>T||||||,T|intron_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000421900|nonsense_mediated_decay|1/4|n.96+31C>T||||||,T|intron_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000456470|protein_coding|1/6|c.72+31C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000483389|retained_intron|1/4|n.45+31C>T|||||| 22 37452397 . G A . . ANN=A|synonymous_variant|LOW|KCTD17|ENSG00000100379|transcript|ENST00000403888|protein_coding|3/9|c.357G>A|p.Pro119Pro|358/1763|357/966|119/321||,A|synonymous_variant|LOW|KCTD17|ENSG00000100379|transcript|ENST00000402077|protein_coding|3/8|c.357G>A|p.Pro119Pro|358/1691|357/894|119/297||,A|synonymous_variant|LOW|KCTD17|ENSG00000100379|transcript|ENST00000456470|protein_coding|3/7|c.219G>A|p.Pro73Pro|221/1438|219/540|73/179||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|RN7SKP214|ENSG00000201078|transcript|ENST00000364208|misc_RNA||n.-1C>T|||||1010|,A|upstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000462640|retained_intron||n.-1G>A|||||1041|,A|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000431531|protein_coding||c.*559G>A|||||3162|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000421900|nonsense_mediated_decay|3/5|n.243G>A||||||,A|non_coding_exon_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000483389|retained_intron|3/5|n.192G>A||||||,A|non_coding_exon_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000478231|retained_intron|2/6|n.182G>A|||||| 22 37452457 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|KCTD17|ENSG00000100379|transcript|ENST00000403888|protein_coding|3/8|c.411+6G>A||||||,A|splice_region_variant&intron_variant|LOW|KCTD17|ENSG00000100379|transcript|ENST00000402077|protein_coding|3/7|c.411+6G>A||||||,A|splice_region_variant&intron_variant|LOW|KCTD17|ENSG00000100379|transcript|ENST00000421900|nonsense_mediated_decay|3/4|n.297+6G>A||||||,A|splice_region_variant&intron_variant|LOW|KCTD17|ENSG00000100379|transcript|ENST00000456470|protein_coding|3/6|c.273+6G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|splice_region_variant&intron_variant|LOW|KCTD17|ENSG00000100379|transcript|ENST00000483389|retained_intron|3/4|n.246+6G>A||||||,A|splice_region_variant&intron_variant|LOW|KCTD17|ENSG00000100379|transcript|ENST00000478231|retained_intron|2/5|n.236+6G>A||||||,A|upstream_gene_variant|MODIFIER|RN7SKP214|ENSG00000201078|transcript|ENST00000364208|misc_RNA||n.-1C>T|||||1070|,A|upstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000462640|retained_intron||n.-1G>A|||||981|,A|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000431531|protein_coding||c.*559G>A|||||3222|WARNING_TRANSCRIPT_NO_STOP_CODON 22 37452475 . C T . . ANN=T|upstream_gene_variant|MODIFIER|RN7SKP214|ENSG00000201078|transcript|ENST00000364208|misc_RNA||n.-1G>A|||||1088|,T|upstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000462640|retained_intron||n.-1C>T|||||963|,T|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000431531|protein_coding||c.*559C>T|||||3240|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000403888|protein_coding|3/8|c.411+24C>T||||||,T|intron_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000402077|protein_coding|3/7|c.411+24C>T||||||,T|intron_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000421900|nonsense_mediated_decay|3/4|n.297+24C>T||||||,T|intron_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000456470|protein_coding|3/6|c.273+24C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000483389|retained_intron|3/4|n.246+24C>T||||||,T|intron_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000478231|retained_intron|2/5|n.236+24C>T|||||| 22 37453452 . C T . . ANN=T|synonymous_variant|LOW|KCTD17|ENSG00000100379|transcript|ENST00000403888|protein_coding|4/9|c.426C>T|p.His142His|427/1763|426/966|142/321||,T|synonymous_variant|LOW|KCTD17|ENSG00000100379|transcript|ENST00000402077|protein_coding|4/8|c.426C>T|p.His142His|427/1691|426/894|142/297||,T|synonymous_variant|LOW|KCTD17|ENSG00000100379|transcript|ENST00000456470|protein_coding|4/7|c.288C>T|p.His96His|290/1438|288/540|96/179||WARNING_TRANSCRIPT_NO_START_CODON,T|3_prime_UTR_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000421900|nonsense_mediated_decay|4/5|n.*30C>T|||||30|,T|upstream_gene_variant|MODIFIER|RN7SKP214|ENSG00000201078|transcript|ENST00000364208|misc_RNA||n.-1G>A|||||2065|,T|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000431531|protein_coding||c.*559C>T|||||4217|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000421900|nonsense_mediated_decay|4/5|n.*30C>T||||||,T|non_coding_exon_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000483389|retained_intron|4/5|n.261C>T||||||,T|non_coding_exon_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000478231|retained_intron|3/6|n.251C>T||||||,T|non_coding_exon_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000462640|retained_intron|1/3|n.15C>T|||||| 22 37453488 . C T . . ANN=T|synonymous_variant|LOW|KCTD17|ENSG00000100379|transcript|ENST00000403888|protein_coding|4/9|c.462C>T|p.Leu154Leu|463/1763|462/966|154/321||,T|synonymous_variant|LOW|KCTD17|ENSG00000100379|transcript|ENST00000402077|protein_coding|4/8|c.462C>T|p.Leu154Leu|463/1691|462/894|154/297||,T|synonymous_variant|LOW|KCTD17|ENSG00000100379|transcript|ENST00000456470|protein_coding|4/7|c.324C>T|p.Leu108Leu|326/1438|324/540|108/179||WARNING_TRANSCRIPT_NO_START_CODON,T|3_prime_UTR_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000421900|nonsense_mediated_decay|4/5|n.*66C>T|||||66|,T|upstream_gene_variant|MODIFIER|RN7SKP214|ENSG00000201078|transcript|ENST00000364208|misc_RNA||n.-1G>A|||||2101|,T|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000431531|protein_coding||c.*559C>T|||||4253|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000421900|nonsense_mediated_decay|4/5|n.*66C>T||||||,T|non_coding_exon_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000483389|retained_intron|4/5|n.297C>T||||||,T|non_coding_exon_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000478231|retained_intron|3/6|n.287C>T||||||,T|non_coding_exon_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000462640|retained_intron|1/3|n.51C>T|||||| 22 37453538 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|KCTD17|ENSG00000100379|transcript|ENST00000403888|protein_coding|4/8|c.507+5G>A||||||,A|splice_region_variant&intron_variant|LOW|KCTD17|ENSG00000100379|transcript|ENST00000402077|protein_coding|4/7|c.507+5G>A||||||,A|splice_region_variant&intron_variant|LOW|KCTD17|ENSG00000100379|transcript|ENST00000421900|nonsense_mediated_decay|4/4|n.*111+5G>A||||||,A|splice_region_variant&intron_variant|LOW|KCTD17|ENSG00000100379|transcript|ENST00000456470|protein_coding|4/6|c.369+5G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|splice_region_variant&intron_variant|LOW|KCTD17|ENSG00000100379|transcript|ENST00000483389|retained_intron|4/4|n.342+5G>A||||||,A|splice_region_variant&intron_variant|LOW|KCTD17|ENSG00000100379|transcript|ENST00000478231|retained_intron|3/5|n.332+5G>A||||||,A|splice_region_variant&intron_variant|LOW|KCTD17|ENSG00000100379|transcript|ENST00000462640|retained_intron|1/2|n.96+5G>A||||||,A|upstream_gene_variant|MODIFIER|RN7SKP214|ENSG00000201078|transcript|ENST00000364208|misc_RNA||n.-1C>T|||||2151|,A|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000431531|protein_coding||c.*559G>A|||||4303|WARNING_TRANSCRIPT_NO_STOP_CODON 22 37455303 . C T . . ANN=T|upstream_gene_variant|MODIFIER|RN7SKP214|ENSG00000201078|transcript|ENST00000364208|misc_RNA||n.-1G>A|||||3916|,T|intron_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000403888|protein_coding|4/8|c.508-50C>T||||||,T|intron_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000402077|protein_coding|4/7|c.508-50C>T||||||,T|intron_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000421900|nonsense_mediated_decay|4/4|n.*112-50C>T||||||,T|intron_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000456470|protein_coding|4/6|c.370-50C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000483389|retained_intron|4/4|n.343-50C>T||||||,T|intron_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000478231|retained_intron|3/5|n.333-50C>T||||||,T|intron_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000462640|retained_intron|1/2|n.97-50C>T|||||| 22 37455365 . G A . . ANN=A|missense_variant|MODERATE|KCTD17|ENSG00000100379|transcript|ENST00000403888|protein_coding|5/9|c.520G>A|p.Gly174Ser|521/1763|520/966|174/321||,A|missense_variant|MODERATE|KCTD17|ENSG00000100379|transcript|ENST00000402077|protein_coding|5/8|c.520G>A|p.Gly174Ser|521/1691|520/894|174/297||,A|missense_variant|MODERATE|KCTD17|ENSG00000100379|transcript|ENST00000456470|protein_coding|5/7|c.382G>A|p.Gly128Ser|384/1438|382/540|128/179||WARNING_TRANSCRIPT_NO_START_CODON,A|3_prime_UTR_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000421900|nonsense_mediated_decay|5/5|n.*124G>A|||||1943|,A|upstream_gene_variant|MODIFIER|RN7SKP214|ENSG00000201078|transcript|ENST00000364208|misc_RNA||n.-1C>T|||||3978|,A|non_coding_exon_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000421900|nonsense_mediated_decay|5/5|n.*124G>A||||||,A|non_coding_exon_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000483389|retained_intron|5/5|n.355G>A||||||,A|non_coding_exon_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000478231|retained_intron|4/6|n.345G>A||||||,A|non_coding_exon_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000462640|retained_intron|2/3|n.109G>A|||||| 22 37455506 . C T . . ANN=T|sequence_feature|LOW|KCTD17|ENSG00000100379|coiled-coil_region|ENST00000403888|protein_coding|7/9|c.633+28C>T||||||,T|sequence_feature|LOW|KCTD17|ENSG00000100379|coiled-coil_region|ENST00000403888|protein_coding|6/9|c.633+28C>T||||||,T|sequence_feature|LOW|KCTD17|ENSG00000100379|coiled-coil_region|ENST00000403888|protein_coding|5/9|c.633+28C>T||||||,T|upstream_gene_variant|MODIFIER|RN7SKP214|ENSG00000201078|transcript|ENST00000364208|misc_RNA||n.-1G>A|||||4119|,T|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000421900|nonsense_mediated_decay||n.*314C>T|||||128|,T|intron_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000403888|protein_coding|5/8|c.633+28C>T||||||,T|intron_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000402077|protein_coding|5/7|c.633+28C>T||||||,T|intron_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000456470|protein_coding|5/6|c.495+28C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000478231|retained_intron|4/5|n.458+28C>T||||||,T|intron_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000462640|retained_intron|2/2|n.222+28C>T||||||,T|non_coding_exon_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000483389|retained_intron|5/5|n.496C>T|||||| 22 37455512 . A G . . ANN=G|sequence_feature|LOW|KCTD17|ENSG00000100379|coiled-coil_region|ENST00000403888|protein_coding|7/9|c.633+34A>G||||||,G|sequence_feature|LOW|KCTD17|ENSG00000100379|coiled-coil_region|ENST00000403888|protein_coding|6/9|c.633+34A>G||||||,G|sequence_feature|LOW|KCTD17|ENSG00000100379|coiled-coil_region|ENST00000403888|protein_coding|5/9|c.633+34A>G||||||,G|upstream_gene_variant|MODIFIER|RN7SKP214|ENSG00000201078|transcript|ENST00000364208|misc_RNA||n.-1T>C|||||4125|,G|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000421900|nonsense_mediated_decay||n.*314A>G|||||134|,G|intron_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000403888|protein_coding|5/8|c.633+34A>G||||||,G|intron_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000402077|protein_coding|5/7|c.633+34A>G||||||,G|intron_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000456470|protein_coding|5/6|c.495+34A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000478231|retained_intron|4/5|n.458+34A>G||||||,G|intron_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000462640|retained_intron|2/2|n.222+34A>G||||||,G|non_coding_exon_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000483389|retained_intron|5/5|n.502A>G|||||| 22 37457531 . C T . . ANN=T|sequence_feature|LOW|KCTD17|ENSG00000100379|compositionally_biased_region:Pro-rich|ENST00000403888|protein_coding|7/9|c.806-48C>T||||||,T|sequence_feature|LOW|KCTD17|ENSG00000100379|compositionally_biased_region:Pro-rich|ENST00000403888|protein_coding|8/9|c.806-48C>T||||||,T|sequence_feature|LOW|KCTD17|ENSG00000100379|compositionally_biased_region:Pro-rich|ENST00000403888|protein_coding|9/9|c.806-48C>T||||||,T|downstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding||c.*2616G>A|||||3945|,T|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000421900|nonsense_mediated_decay||n.*314C>T|||||2153|,T|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000483389|retained_intron||n.*546C>T|||||1975|,T|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000462640|retained_intron||n.*808C>T|||||83|,T|downstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding||c.*2553G>A|||||3948|,T|downstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding||c.*2481G>A|||||3948|,T|downstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding||c.*2537G>A|||||3948|,T|intron_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000403888|protein_coding|7/8|c.806-48C>T||||||,T|intron_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000402077|protein_coding|6/7|c.734-48C>T||||||,T|intron_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000456470|protein_coding|5/6|c.496-48C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000478231|retained_intron|5/5|n.559-48C>T|||||| 22 37457535 . C A,G . . ANN=A|sequence_feature|LOW|KCTD17|ENSG00000100379|compositionally_biased_region:Pro-rich|ENST00000403888|protein_coding|7/9|c.806-44C>A||||||,A|sequence_feature|LOW|KCTD17|ENSG00000100379|compositionally_biased_region:Pro-rich|ENST00000403888|protein_coding|8/9|c.806-44C>A||||||,A|sequence_feature|LOW|KCTD17|ENSG00000100379|compositionally_biased_region:Pro-rich|ENST00000403888|protein_coding|9/9|c.806-44C>A||||||,G|sequence_feature|LOW|KCTD17|ENSG00000100379|compositionally_biased_region:Pro-rich|ENST00000403888|protein_coding|7/9|c.806-44C>G||||||,G|sequence_feature|LOW|KCTD17|ENSG00000100379|compositionally_biased_region:Pro-rich|ENST00000403888|protein_coding|8/9|c.806-44C>G||||||,G|sequence_feature|LOW|KCTD17|ENSG00000100379|compositionally_biased_region:Pro-rich|ENST00000403888|protein_coding|9/9|c.806-44C>G||||||,A|downstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding||c.*2616G>T|||||3941|,G|downstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding||c.*2616G>C|||||3941|,A|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000421900|nonsense_mediated_decay||n.*314C>A|||||2157|,G|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000421900|nonsense_mediated_decay||n.*314C>G|||||2157|,A|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000483389|retained_intron||n.*546C>A|||||1979|,G|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000483389|retained_intron||n.*546C>G|||||1979|,A|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000462640|retained_intron||n.*808C>A|||||87|,G|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000462640|retained_intron||n.*808C>G|||||87|,A|downstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding||c.*2553G>T|||||3944|,G|downstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding||c.*2553G>C|||||3944|,A|downstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding||c.*2481G>T|||||3944|,G|downstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding||c.*2481G>C|||||3944|,A|downstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding||c.*2537G>T|||||3944|,G|downstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding||c.*2537G>C|||||3944|,A|intron_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000403888|protein_coding|7/8|c.806-44C>A||||||,G|intron_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000403888|protein_coding|7/8|c.806-44C>G||||||,A|intron_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000402077|protein_coding|6/7|c.734-44C>A||||||,G|intron_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000402077|protein_coding|6/7|c.734-44C>G||||||,A|intron_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000456470|protein_coding|5/6|c.496-44C>A||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000456470|protein_coding|5/6|c.496-44C>G||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000478231|retained_intron|5/5|n.559-44C>A||||||,G|intron_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000478231|retained_intron|5/5|n.559-44C>G|||||| 22 37457536 . C A . . ANN=A|sequence_feature|LOW|KCTD17|ENSG00000100379|compositionally_biased_region:Pro-rich|ENST00000403888|protein_coding|7/9|c.806-43C>A||||||,A|sequence_feature|LOW|KCTD17|ENSG00000100379|compositionally_biased_region:Pro-rich|ENST00000403888|protein_coding|8/9|c.806-43C>A||||||,A|sequence_feature|LOW|KCTD17|ENSG00000100379|compositionally_biased_region:Pro-rich|ENST00000403888|protein_coding|9/9|c.806-43C>A||||||,A|downstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding||c.*2616G>T|||||3940|,A|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000421900|nonsense_mediated_decay||n.*314C>A|||||2158|,A|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000483389|retained_intron||n.*546C>A|||||1980|,A|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000462640|retained_intron||n.*808C>A|||||88|,A|downstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding||c.*2553G>T|||||3943|,A|downstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding||c.*2481G>T|||||3943|,A|downstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding||c.*2537G>T|||||3943|,A|intron_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000403888|protein_coding|7/8|c.806-43C>A||||||,A|intron_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000402077|protein_coding|6/7|c.734-43C>A||||||,A|intron_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000456470|protein_coding|5/6|c.496-43C>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000478231|retained_intron|5/5|n.559-43C>A|||||| 22 37457585 . G A . . ANN=A|missense_variant|MODERATE|KCTD17|ENSG00000100379|transcript|ENST00000403888|protein_coding|8/9|c.812G>A|p.Arg271His|813/1763|812/966|271/321||,A|missense_variant|MODERATE|KCTD17|ENSG00000100379|transcript|ENST00000402077|protein_coding|7/8|c.740G>A|p.Arg247His|741/1691|740/894|247/297||,A|missense_variant|MODERATE|KCTD17|ENSG00000100379|transcript|ENST00000456470|protein_coding|6/7|c.502G>A|p.Val168Ile|504/1438|502/540|168/179||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|KCTD17|ENSG00000100379|compositionally_biased_region:Pro-rich|ENST00000403888|protein_coding|7/9|c.812G>A||||||,A|sequence_feature|LOW|KCTD17|ENSG00000100379|compositionally_biased_region:Pro-rich|ENST00000403888|protein_coding|8/9|c.812G>A||||||,A|sequence_feature|LOW|KCTD17|ENSG00000100379|compositionally_biased_region:Pro-rich|ENST00000403888|protein_coding|9/9|c.812G>A||||||,A|downstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding||c.*2616C>T|||||3891|,A|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000421900|nonsense_mediated_decay||n.*314G>A|||||2207|,A|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000483389|retained_intron||n.*546G>A|||||2029|,A|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000462640|retained_intron||n.*808G>A|||||137|,A|downstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding||c.*2553C>T|||||3894|,A|downstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding||c.*2481C>T|||||3894|,A|downstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding||c.*2537C>T|||||3894|,A|non_coding_exon_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000478231|retained_intron|6/6|n.565G>A|||||| 22 37458586 . C T . . ANN=T|synonymous_variant|LOW|KCTD17|ENSG00000100379|transcript|ENST00000403888|protein_coding|9/9|c.918C>T|p.Pro306Pro|919/1763|918/966|306/321||,T|synonymous_variant|LOW|KCTD17|ENSG00000100379|transcript|ENST00000402077|protein_coding|8/8|c.846C>T|p.Pro282Pro|847/1691|846/894|282/297||,T|sequence_feature|LOW|KCTD17|ENSG00000100379|compositionally_biased_region:Pro-rich|ENST00000403888|protein_coding|7/9|c.918C>T||||||,T|sequence_feature|LOW|KCTD17|ENSG00000100379|compositionally_biased_region:Pro-rich|ENST00000403888|protein_coding|8/9|c.918C>T||||||,T|sequence_feature|LOW|KCTD17|ENSG00000100379|compositionally_biased_region:Pro-rich|ENST00000403888|protein_coding|9/9|c.918C>T||||||,T|3_prime_UTR_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000456470|protein_coding|7/7|c.*68C>T|||||963|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding||c.*2616G>A|||||2890|,T|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000421900|nonsense_mediated_decay||n.*314C>T|||||3208|,T|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000483389|retained_intron||n.*546C>T|||||3030|,T|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000478231|retained_intron||n.*584C>T|||||982|,T|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000462640|retained_intron||n.*808C>T|||||1138|,T|downstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding||c.*2553G>A|||||2893|,T|downstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding||c.*2481G>A|||||2893|,T|downstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding||c.*2537G>A|||||2893| 22 37458644 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000403888|protein_coding|9/9|c.*10T>C|||||10|,C|3_prime_UTR_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000402077|protein_coding|8/8|c.*10T>C|||||10|,C|3_prime_UTR_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000456470|protein_coding|7/7|c.*126T>C|||||1021|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding||c.*2616A>G|||||2832|,C|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000421900|nonsense_mediated_decay||n.*314T>C|||||3266|,C|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000483389|retained_intron||n.*546T>C|||||3088|,C|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000478231|retained_intron||n.*584T>C|||||1040|,C|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000462640|retained_intron||n.*808T>C|||||1196|,C|downstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding||c.*2553A>G|||||2835|,C|downstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding||c.*2481A>G|||||2835|,C|downstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding||c.*2537A>G|||||2835| 22 37458668 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000403888|protein_coding|9/9|c.*34G>A|||||34|,A|3_prime_UTR_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000402077|protein_coding|8/8|c.*34G>A|||||34|,A|3_prime_UTR_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000456470|protein_coding|7/7|c.*150G>A|||||1045|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding||c.*2616C>T|||||2808|,A|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000421900|nonsense_mediated_decay||n.*314G>A|||||3290|,A|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000483389|retained_intron||n.*546G>A|||||3112|,A|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000478231|retained_intron||n.*584G>A|||||1064|,A|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000462640|retained_intron||n.*808G>A|||||1220|,A|downstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding||c.*2553C>T|||||2811|,A|downstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding||c.*2481C>T|||||2811|,A|downstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding||c.*2537C>T|||||2811| 22 37462096 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|19/19|c.*24G>A|||||24|,T|3_prime_UTR_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|18/18|c.*24G>A|||||24|,T|3_prime_UTR_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|18/18|c.*24G>A|||||24|,T|3_prime_UTR_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|19/19|c.*24G>A|||||24|,T|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000403888|protein_coding||c.*967C>T|||||2666|,T|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000402077|protein_coding||c.*895C>T|||||2666|,T|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000456470|protein_coding||c.*542C>T|||||2682|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000478231|retained_intron||n.*584C>T|||||4492|,T|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000462640|retained_intron||n.*808C>T|||||4648| 22 37462106 . AG A . . ANN=|3_prime_UTR_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|19/19|c.*13delC|||||13|,|3_prime_UTR_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|18/18|c.*13delC|||||13|,|3_prime_UTR_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|18/18|c.*13delC|||||13|,|3_prime_UTR_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|19/19|c.*13delC|||||13|,|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000403888|protein_coding||c.*967delG|||||2677|,|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000402077|protein_coding||c.*895delG|||||2677|,|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000456470|protein_coding||c.*542delG|||||2693|WARNING_TRANSCRIPT_NO_START_CODON,|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000478231|retained_intron||n.*584delG|||||4503|,|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000462640|retained_intron||n.*808delG|||||4659| 22 37462173 . C T . . ANN=T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|19/19|c.2422G>A|p.Val808Ile|2563/3260|2422/2475|808/824||,T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|18/18|c.2383G>A|p.Val795Ile|2500/3194|2383/2436|795/811||,T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|18/18|c.2356G>A|p.Val786Ile|2428/3122|2356/2409|786/802||,T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|19/19|c.2422G>A|p.Val808Ile|2484/3178|2422/2475|808/824||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|17/18|c.2383G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|16/18|c.2383G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|18/18|c.2383G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|15/18|c.2383G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.2383G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.2383G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.2383G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.2383G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.2383G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.2383G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.2383G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.2383G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.2383G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.2383G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.2383G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.2383G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.2383G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.2383G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.2383G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.2383G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.2383G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|17/18|c.2356G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|16/18|c.2356G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|18/18|c.2356G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|15/18|c.2356G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.2356G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.2356G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.2356G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.2356G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.2356G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.2356G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.2356G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.2356G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.2356G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.2356G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.2356G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.2356G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.2356G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.2356G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.2356G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.2356G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.2356G>A||||||,T|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000403888|protein_coding||c.*967C>T|||||2743|,T|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000402077|protein_coding||c.*895C>T|||||2743|,T|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000456470|protein_coding||c.*542C>T|||||2759|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000478231|retained_intron||n.*584C>T|||||4569|,T|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000462640|retained_intron||n.*808C>T|||||4725| 22 37462210 . G A . . ANN=A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|19/19|c.2385C>T|p.Ser795Ser|2526/3260|2385/2475|795/824||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|18/18|c.2346C>T|p.Ser782Ser|2463/3194|2346/2436|782/811||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|18/18|c.2319C>T|p.Ser773Ser|2391/3122|2319/2409|773/802||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|19/19|c.2385C>T|p.Ser795Ser|2447/3178|2385/2475|795/824||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|17/18|c.2346C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|16/18|c.2346C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|18/18|c.2346C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|15/18|c.2346C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.2346C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.2346C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.2346C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.2346C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.2346C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.2346C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.2346C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.2346C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.2346C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.2346C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.2346C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.2346C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.2346C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.2346C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.2346C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.2346C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.2346C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|17/18|c.2346C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|18/18|c.2346C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|17/18|c.2319C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|16/18|c.2319C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|18/18|c.2319C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|15/18|c.2319C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.2319C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.2319C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.2319C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.2319C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.2319C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.2319C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.2319C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.2319C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.2319C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.2319C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.2319C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.2319C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.2319C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.2319C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.2319C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.2319C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.2319C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|17/18|c.2319C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|18/18|c.2319C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406856|protein_coding|18/19|c.2385C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406856|protein_coding|19/19|c.2385C>T||||||,A|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000403888|protein_coding||c.*967G>A|||||2780|,A|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000402077|protein_coding||c.*895G>A|||||2780|,A|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000456470|protein_coding||c.*542G>A|||||2796|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000478231|retained_intron||n.*584G>A|||||4606|,A|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000462640|retained_intron||n.*808G>A|||||4762| 22 37462309 . C T . . ANN=T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|17/18|c.2278-31G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|16/18|c.2278-31G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|18/18|c.2278-31G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|15/18|c.2278-31G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.2278-31G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.2278-31G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.2278-31G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.2278-31G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.2278-31G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.2278-31G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.2278-31G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.2278-31G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.2278-31G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.2278-31G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.2278-31G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.2278-31G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.2278-31G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.2278-31G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.2278-31G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.2278-31G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.2278-31G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|17/18|c.2278-31G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|18/18|c.2278-31G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|16/18|c.2278-31G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|17/18|c.2251-31G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|16/18|c.2251-31G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|18/18|c.2251-31G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|15/18|c.2251-31G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.2251-31G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.2251-31G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.2251-31G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.2251-31G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.2251-31G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.2251-31G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.2251-31G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.2251-31G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.2251-31G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.2251-31G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.2251-31G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.2251-31G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.2251-31G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.2251-31G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.2251-31G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.2251-31G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.2251-31G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|17/18|c.2251-31G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|18/18|c.2251-31G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|16/18|c.2251-31G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406856|protein_coding|18/19|c.2317-31G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406856|protein_coding|19/19|c.2317-31G>A||||||,T|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000403888|protein_coding||c.*967C>T|||||2879|,T|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000402077|protein_coding||c.*895C>T|||||2879|,T|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000456470|protein_coding||c.*542C>T|||||2895|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000478231|retained_intron||n.*584C>T|||||4705|,T|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000462640|retained_intron||n.*808C>T|||||4861|,T|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|18/18|c.2317-31G>A||||||,T|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|17/17|c.2278-31G>A||||||,T|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|17/17|c.2251-31G>A||||||,T|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|18/18|c.2317-31G>A|||||| 22 37462926 . G A . . ANN=A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|18/19|c.2256C>T|p.Tyr752Tyr|2397/3260|2256/2475|752/824||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|17/18|c.2217C>T|p.Tyr739Tyr|2334/3194|2217/2436|739/811||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|17/18|c.2190C>T|p.Tyr730Tyr|2262/3122|2190/2409|730/802||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|18/19|c.2256C>T|p.Tyr752Tyr|2318/3178|2256/2475|752/824||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|17/18|c.2217C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|16/18|c.2217C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|18/18|c.2217C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|15/18|c.2217C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.2217C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.2217C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.2217C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.2217C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.2217C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.2217C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.2217C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.2217C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.2217C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.2217C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.2217C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.2217C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.2217C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.2217C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.2217C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.2217C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.2217C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|17/18|c.2217C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|16/18|c.2217C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|18/18|c.2217C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|17/18|c.2190C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|16/18|c.2190C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|18/18|c.2190C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|15/18|c.2190C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.2190C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.2190C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.2190C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.2190C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.2190C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.2190C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.2190C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.2190C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.2190C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.2190C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.2190C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.2190C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.2190C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.2190C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.2190C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.2190C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.2190C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|17/18|c.2190C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|16/18|c.2190C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|18/18|c.2190C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406856|protein_coding|18/19|c.2256C>T||||||,A|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000403888|protein_coding||c.*967G>A|||||3496|,A|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000402077|protein_coding||c.*895G>A|||||3496|,A|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000456470|protein_coding||c.*542G>A|||||3512|WARNING_TRANSCRIPT_NO_START_CODON 22 37462936 . A G . . ANN=G|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|18/19|c.2246T>C|p.Val749Ala|2387/3260|2246/2475|749/824||,G|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|17/18|c.2207T>C|p.Val736Ala|2324/3194|2207/2436|736/811||,G|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|17/18|c.2180T>C|p.Val727Ala|2252/3122|2180/2409|727/802||,G|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|18/19|c.2246T>C|p.Val749Ala|2308/3178|2246/2475|749/824||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|17/18|c.2207T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|16/18|c.2207T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|18/18|c.2207T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|15/18|c.2207T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.2207T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.2207T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.2207T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.2207T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.2207T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.2207T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.2207T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.2207T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.2207T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.2207T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.2207T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.2207T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.2207T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.2207T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.2207T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.2207T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.2207T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|17/18|c.2207T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|16/18|c.2207T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|18/18|c.2207T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|17/18|c.2180T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|16/18|c.2180T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|18/18|c.2180T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|15/18|c.2180T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.2180T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.2180T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.2180T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.2180T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.2180T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.2180T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.2180T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.2180T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.2180T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.2180T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.2180T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.2180T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.2180T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.2180T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.2180T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.2180T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.2180T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|17/18|c.2180T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|16/18|c.2180T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|18/18|c.2180T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406856|protein_coding|18/19|c.2246T>C||||||,G|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000403888|protein_coding||c.*967A>G|||||3506|,G|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000402077|protein_coding||c.*895A>G|||||3506|,G|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000456470|protein_coding||c.*542A>G|||||3522|WARNING_TRANSCRIPT_NO_START_CODON 22 37462989 . G A . . ANN=A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|18/19|c.2193C>T|p.Asn731Asn|2334/3260|2193/2475|731/824||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|17/18|c.2154C>T|p.Asn718Asn|2271/3194|2154/2436|718/811||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|17/18|c.2127C>T|p.Asn709Asn|2199/3122|2127/2409|709/802||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|18/19|c.2193C>T|p.Asn731Asn|2255/3178|2193/2475|731/824||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|17/18|c.2154C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|16/18|c.2154C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|18/18|c.2154C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|15/18|c.2154C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.2154C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.2154C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.2154C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.2154C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.2154C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.2154C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.2154C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.2154C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.2154C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.2154C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.2154C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.2154C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.2154C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.2154C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.2154C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.2154C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.2154C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|17/18|c.2154C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|16/18|c.2154C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|18/18|c.2154C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|17/18|c.2127C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|16/18|c.2127C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|18/18|c.2127C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|15/18|c.2127C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.2127C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.2127C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.2127C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.2127C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.2127C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.2127C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.2127C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.2127C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.2127C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.2127C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.2127C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.2127C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.2127C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.2127C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.2127C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.2127C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.2127C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|17/18|c.2127C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|16/18|c.2127C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|18/18|c.2127C>T||||||,A|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000403888|protein_coding||c.*967G>A|||||3559|,A|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000402077|protein_coding||c.*895G>A|||||3559|,A|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000456470|protein_coding||c.*542G>A|||||3575|WARNING_TRANSCRIPT_NO_START_CODON 22 37462998 . G A . . ANN=A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|18/19|c.2184C>T|p.Pro728Pro|2325/3260|2184/2475|728/824||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|17/18|c.2145C>T|p.Pro715Pro|2262/3194|2145/2436|715/811||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|17/18|c.2118C>T|p.Pro706Pro|2190/3122|2118/2409|706/802||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|18/19|c.2184C>T|p.Pro728Pro|2246/3178|2184/2475|728/824||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|17/18|c.2145C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|16/18|c.2145C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|18/18|c.2145C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|15/18|c.2145C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.2145C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.2145C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.2145C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.2145C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.2145C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.2145C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.2145C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.2145C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.2145C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.2145C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.2145C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.2145C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.2145C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.2145C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.2145C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.2145C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.2145C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|17/18|c.2145C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|16/18|c.2145C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|18/18|c.2145C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|17/18|c.2118C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|16/18|c.2118C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|18/18|c.2118C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|15/18|c.2118C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.2118C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.2118C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.2118C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.2118C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.2118C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.2118C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.2118C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.2118C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.2118C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.2118C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.2118C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.2118C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.2118C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.2118C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.2118C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.2118C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.2118C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|17/18|c.2118C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|16/18|c.2118C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|18/18|c.2118C>T||||||,A|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000403888|protein_coding||c.*967G>A|||||3568|,A|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000402077|protein_coding||c.*895G>A|||||3568|,A|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000456470|protein_coding||c.*542G>A|||||3584|WARNING_TRANSCRIPT_NO_START_CODON 22 37465094 . G A . . ANN=A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|17/18|c.2140+19C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|16/18|c.2140+19C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|18/18|c.2140+19C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|15/18|c.2140+19C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.2140+19C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.2140+19C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.2140+19C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.2140+19C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.2140+19C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.2140+19C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.2140+19C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.2140+19C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.2140+19C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.2140+19C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.2140+19C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.2140+19C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.2140+19C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.2140+19C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.2140+19C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.2140+19C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.2140+19C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|17/18|c.2140+19C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|16/18|c.2140+19C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|18/18|c.2140+19C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|17/18|c.2113+19C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|16/18|c.2113+19C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|18/18|c.2113+19C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|15/18|c.2113+19C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.2113+19C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.2113+19C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.2113+19C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.2113+19C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.2113+19C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.2113+19C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.2113+19C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.2113+19C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.2113+19C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.2113+19C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.2113+19C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.2113+19C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.2113+19C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.2113+19C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.2113+19C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.2113+19C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.2113+19C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|17/18|c.2113+19C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|16/18|c.2113+19C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|18/18|c.2113+19C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|16/18|c.2113+19C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|16/17|c.2140+19C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|16/17|c.2113+19C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|16/18|c.2113+19C>T|||||| 22 37465102 . C T . . ANN=T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|17/18|c.2140+11G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|16/18|c.2140+11G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|18/18|c.2140+11G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|15/18|c.2140+11G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.2140+11G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.2140+11G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.2140+11G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.2140+11G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.2140+11G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.2140+11G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.2140+11G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.2140+11G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.2140+11G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.2140+11G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.2140+11G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.2140+11G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.2140+11G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.2140+11G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.2140+11G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.2140+11G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.2140+11G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|17/18|c.2140+11G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|16/18|c.2140+11G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|18/18|c.2140+11G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|17/18|c.2113+11G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|16/18|c.2113+11G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|18/18|c.2113+11G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|15/18|c.2113+11G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.2113+11G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.2113+11G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.2113+11G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.2113+11G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.2113+11G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.2113+11G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.2113+11G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.2113+11G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.2113+11G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.2113+11G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.2113+11G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.2113+11G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.2113+11G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.2113+11G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.2113+11G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.2113+11G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.2113+11G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|17/18|c.2113+11G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|16/18|c.2113+11G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|18/18|c.2113+11G>A||||||,T|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|16/18|c.2113+11G>A||||||,T|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|16/17|c.2140+11G>A||||||,T|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|16/17|c.2113+11G>A||||||,T|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|16/18|c.2113+11G>A|||||| 22 37465114 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|16/19|c.2112C>T|p.Gly704Gly|2253/3260|2112/2475|704/824||,A|splice_region_variant&synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|16/18|c.2139C>T|p.Gly713Gly|2256/3194|2139/2436|713/811||,A|splice_region_variant&synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|16/18|c.2112C>T|p.Gly704Gly|2184/3122|2112/2409|704/802||,A|splice_region_variant&synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|16/19|c.2112C>T|p.Gly704Gly|2174/3178|2112/2475|704/824||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|17/18|c.2139C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|16/18|c.2139C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|18/18|c.2139C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|15/18|c.2139C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.2139C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.2139C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.2139C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.2139C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.2139C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.2139C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.2139C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.2139C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.2139C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.2139C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.2139C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.2139C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.2139C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.2139C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.2139C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.2139C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.2139C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|17/18|c.2139C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|16/18|c.2139C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|18/18|c.2139C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|17/18|c.2112C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|16/18|c.2112C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|18/18|c.2112C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|15/18|c.2112C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.2112C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.2112C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.2112C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.2112C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.2112C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.2112C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.2112C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.2112C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.2112C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.2112C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.2112C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.2112C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.2112C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.2112C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.2112C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.2112C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.2112C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|17/18|c.2112C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|16/18|c.2112C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|18/18|c.2112C>T|||||| 22 37465121 . C A . . ANN=A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|16/19|c.2105G>T|p.Arg702Leu|2246/3260|2105/2475|702/824||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|16/18|c.2132G>T|p.Arg711Leu|2249/3194|2132/2436|711/811||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|16/18|c.2105G>T|p.Arg702Leu|2177/3122|2105/2409|702/802||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|16/19|c.2105G>T|p.Arg702Leu|2167/3178|2105/2475|702/824||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|17/18|c.2132G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|16/18|c.2132G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|18/18|c.2132G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|15/18|c.2132G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.2132G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.2132G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.2132G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.2132G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.2132G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.2132G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.2132G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.2132G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.2132G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.2132G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.2132G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.2132G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.2132G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.2132G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.2132G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.2132G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.2132G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|17/18|c.2132G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|16/18|c.2132G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|18/18|c.2132G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|17/18|c.2105G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|16/18|c.2105G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|18/18|c.2105G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|15/18|c.2105G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.2105G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.2105G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.2105G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.2105G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.2105G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.2105G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.2105G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.2105G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.2105G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.2105G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.2105G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.2105G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.2105G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.2105G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.2105G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.2105G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.2105G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|17/18|c.2105G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|16/18|c.2105G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|18/18|c.2105G>T|||||| 22 37465141 . A C . . ANN=C|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|16/19|c.2085T>G|p.Ile695Met|2226/3260|2085/2475|695/824||,C|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|16/18|c.2112T>G|p.Ile704Met|2229/3194|2112/2436|704/811||,C|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|16/18|c.2085T>G|p.Ile695Met|2157/3122|2085/2409|695/802||,C|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|16/19|c.2085T>G|p.Ile695Met|2147/3178|2085/2475|695/824||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|17/18|c.2112T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|16/18|c.2112T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|18/18|c.2112T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|15/18|c.2112T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.2112T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.2112T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.2112T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.2112T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.2112T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.2112T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.2112T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.2112T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.2112T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.2112T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.2112T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.2112T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.2112T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.2112T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.2112T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.2112T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.2112T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|17/18|c.2112T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|16/18|c.2112T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|18/18|c.2112T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|17/18|c.2085T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|16/18|c.2085T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|18/18|c.2085T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|15/18|c.2085T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.2085T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.2085T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.2085T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.2085T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.2085T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.2085T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.2085T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.2085T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.2085T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.2085T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.2085T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.2085T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.2085T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.2085T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.2085T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.2085T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.2085T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|17/18|c.2085T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|16/18|c.2085T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|18/18|c.2085T>G|||||| 22 37465152 . G A . . ANN=A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|16/19|c.2074C>T|p.His692Tyr|2215/3260|2074/2475|692/824||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|16/18|c.2101C>T|p.His701Tyr|2218/3194|2101/2436|701/811||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|16/18|c.2074C>T|p.His692Tyr|2146/3122|2074/2409|692/802||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|16/19|c.2074C>T|p.His692Tyr|2136/3178|2074/2475|692/824||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|17/18|c.2101C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|16/18|c.2101C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|18/18|c.2101C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|15/18|c.2101C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.2101C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.2101C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.2101C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.2101C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.2101C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.2101C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.2101C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.2101C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.2101C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.2101C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.2101C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.2101C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.2101C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.2101C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.2101C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.2101C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.2101C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|17/18|c.2074C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|16/18|c.2074C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|18/18|c.2074C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|15/18|c.2074C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.2074C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.2074C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.2074C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.2074C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.2074C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.2074C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.2074C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.2074C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.2074C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.2074C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.2074C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.2074C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.2074C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.2074C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.2074C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.2074C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.2074C>T|||||| 22 37465222 . C T . . ANN=T|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|16/19|c.2004G>A|p.Pro668Pro|2145/3260|2004/2475|668/824||,T|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|16/18|c.2031G>A|p.Pro677Pro|2148/3194|2031/2436|677/811||,T|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|16/18|c.2004G>A|p.Pro668Pro|2076/3122|2004/2409|668/802||,T|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|16/19|c.2004G>A|p.Pro668Pro|2066/3178|2004/2475|668/824||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|17/18|c.2031G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|16/18|c.2031G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|18/18|c.2031G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|15/18|c.2031G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.2031G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.2031G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.2031G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.2031G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.2031G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.2031G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.2031G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.2031G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.2031G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.2031G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.2031G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.2031G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.2031G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.2031G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.2031G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.2031G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.2031G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|17/18|c.2004G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|16/18|c.2004G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|18/18|c.2004G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|15/18|c.2004G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.2004G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.2004G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.2004G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.2004G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.2004G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.2004G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.2004G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.2004G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.2004G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.2004G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.2004G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.2004G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.2004G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.2004G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.2004G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.2004G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.2004G>A|||||| 22 37465385 . CTGGGG C . . ANN=|splice_acceptor_variant&splice_region_variant&intron_variant|HIGH|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|15/18|c.1842-6_1842-2delCCCCA||||||,|splice_acceptor_variant&splice_region_variant&intron_variant|HIGH|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|15/17|c.1869-6_1869-2delCCCCA||||||,|splice_acceptor_variant&splice_region_variant&intron_variant|HIGH|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|15/17|c.1842-6_1842-2delCCCCA||||||,|splice_acceptor_variant&splice_region_variant&intron_variant|HIGH|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|15/18|c.1842-6_1842-2delCCCCA||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|17/18|c.1869-6_1869-2delCCCCA||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|16/18|c.1869-6_1869-2delCCCCA||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|18/18|c.1869-6_1869-2delCCCCA||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|15/18|c.1869-6_1869-2delCCCCA||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.1869-6_1869-2delCCCCA||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.1869-6_1869-2delCCCCA||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.1869-6_1869-2delCCCCA||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.1869-6_1869-2delCCCCA||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.1869-6_1869-2delCCCCA||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.1869-6_1869-2delCCCCA||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.1869-6_1869-2delCCCCA||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.1869-6_1869-2delCCCCA||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.1869-6_1869-2delCCCCA||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.1869-6_1869-2delCCCCA||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.1869-6_1869-2delCCCCA||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.1869-6_1869-2delCCCCA||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.1869-6_1869-2delCCCCA||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.1869-6_1869-2delCCCCA||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.1869-6_1869-2delCCCCA||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.1869-6_1869-2delCCCCA||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.1869-6_1869-2delCCCCA||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|17/18|c.1842-6_1842-2delCCCCA||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|16/18|c.1842-6_1842-2delCCCCA||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|18/18|c.1842-6_1842-2delCCCCA||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|15/18|c.1842-6_1842-2delCCCCA||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.1842-6_1842-2delCCCCA||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.1842-6_1842-2delCCCCA||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.1842-6_1842-2delCCCCA||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.1842-6_1842-2delCCCCA||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.1842-6_1842-2delCCCCA||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.1842-6_1842-2delCCCCA||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.1842-6_1842-2delCCCCA||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.1842-6_1842-2delCCCCA||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.1842-6_1842-2delCCCCA||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.1842-6_1842-2delCCCCA||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.1842-6_1842-2delCCCCA||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.1842-6_1842-2delCCCCA||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.1842-6_1842-2delCCCCA||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.1842-6_1842-2delCCCCA||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.1842-6_1842-2delCCCCA||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.1842-6_1842-2delCCCCA||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.1842-6_1842-2delCCCCA||||||;LOF=(TMPRSS6|ENSG00000187045|7|0.57) 22 37466493 . A G . . ANN=G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|17/18|c.1868+31T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|16/18|c.1868+31T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|18/18|c.1868+31T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|15/18|c.1868+31T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.1868+31T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.1868+31T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.1868+31T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.1868+31T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.1868+31T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.1868+31T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.1868+31T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.1868+31T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.1868+31T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.1868+31T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.1868+31T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.1868+31T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.1868+31T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.1868+31T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.1868+31T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.1868+31T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.1868+31T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|17/18|c.1841+31T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|16/18|c.1841+31T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|18/18|c.1841+31T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|15/18|c.1841+31T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.1841+31T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.1841+31T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.1841+31T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.1841+31T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.1841+31T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.1841+31T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.1841+31T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.1841+31T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.1841+31T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.1841+31T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.1841+31T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.1841+31T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.1841+31T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.1841+31T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.1841+31T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.1841+31T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.1841+31T>C||||||,G|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|15/18|c.1841+31T>C||||||,G|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|15/17|c.1868+31T>C||||||,G|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|15/17|c.1841+31T>C||||||,G|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|15/18|c.1841+31T>C|||||| 22 37466565 . G A . . ANN=A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|15/19|c.1800C>T|p.Asp600Asp|1941/3260|1800/2475|600/824||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|15/18|c.1827C>T|p.Asp609Asp|1944/3194|1827/2436|609/811||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|15/18|c.1800C>T|p.Asp600Asp|1872/3122|1800/2409|600/802||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|15/19|c.1800C>T|p.Asp600Asp|1862/3178|1800/2475|600/824||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|17/18|c.1827C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|16/18|c.1827C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|18/18|c.1827C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|15/18|c.1827C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.1827C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.1827C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.1827C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.1827C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.1827C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.1827C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.1827C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.1827C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.1827C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.1827C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.1827C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.1827C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.1827C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.1827C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.1827C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.1827C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.1827C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|15/18|c.1827C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|17/18|c.1800C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|16/18|c.1800C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|18/18|c.1800C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|15/18|c.1800C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.1800C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.1800C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.1800C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.1800C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.1800C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.1800C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.1800C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.1800C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.1800C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.1800C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.1800C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.1800C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.1800C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.1800C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.1800C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.1800C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.1800C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|15/18|c.1800C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406856|protein_coding|15/19|c.1800C>T|||||| 22 37466602 . C T . . ANN=T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|15/19|c.1763G>A|p.Arg588Gln|1904/3260|1763/2475|588/824||,T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|15/18|c.1790G>A|p.Arg597Gln|1907/3194|1790/2436|597/811||,T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|15/18|c.1763G>A|p.Arg588Gln|1835/3122|1763/2409|588/802||,T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|15/19|c.1763G>A|p.Arg588Gln|1825/3178|1763/2475|588/824||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|17/18|c.1790G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|16/18|c.1790G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|18/18|c.1790G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|15/18|c.1790G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.1790G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.1790G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.1790G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.1790G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.1790G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.1790G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.1790G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.1790G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.1790G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.1790G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.1790G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.1790G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.1790G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.1790G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.1790G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.1790G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.1790G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|17/18|c.1763G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|16/18|c.1763G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|18/18|c.1763G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|15/18|c.1763G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.1763G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.1763G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.1763G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.1763G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.1763G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.1763G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.1763G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.1763G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.1763G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.1763G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.1763G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.1763G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.1763G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.1763G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.1763G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.1763G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.1763G>A|||||| 22 37466637 . C T . . ANN=T|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|15/19|c.1728G>A|p.Glu576Glu|1869/3260|1728/2475|576/824||,T|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|15/18|c.1755G>A|p.Glu585Glu|1872/3194|1755/2436|585/811||,T|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|15/18|c.1728G>A|p.Glu576Glu|1800/3122|1728/2409|576/802||,T|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|15/19|c.1728G>A|p.Glu576Glu|1790/3178|1728/2475|576/824||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|17/18|c.1755G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|16/18|c.1755G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|18/18|c.1755G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|15/18|c.1755G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.1755G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.1755G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.1755G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.1755G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.1755G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.1755G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.1755G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.1755G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.1755G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.1755G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.1755G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.1755G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.1755G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.1755G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.1755G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.1755G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.1755G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|17/18|c.1728G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|16/18|c.1728G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|18/18|c.1728G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|15/18|c.1728G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.1728G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.1728G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.1728G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.1728G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.1728G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.1728G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.1728G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.1728G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.1728G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.1728G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.1728G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.1728G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.1728G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.1728G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.1728G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.1728G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.1728G>A|||||| 22 37466930 . G A . . ANN=A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.1699+26C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.1699+26C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.1699+26C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.1699+26C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.1699+26C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.1699+26C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.1699+26C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.1699+26C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.1699+26C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.1699+26C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.1699+26C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.1699+26C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.1699+26C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.1699+26C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.1699+26C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.1699+26C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.1699+26C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000346753|protein_coding|14/18|c.1699+26C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000346753|protein_coding|15/18|c.1699+26C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.1672+26C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.1672+26C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.1672+26C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.1672+26C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.1672+26C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.1672+26C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.1672+26C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.1672+26C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.1672+26C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.1672+26C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.1672+26C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.1672+26C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.1672+26C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.1672+26C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.1672+26C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.1672+26C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.1672+26C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000406725|protein_coding|14/18|c.1672+26C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000406725|protein_coding|15/18|c.1672+26C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000406856|protein_coding|14/19|c.1672+26C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000406856|protein_coding|15/19|c.1672+26C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|14/18|c.1672+26C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|14/17|c.1699+26C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|14/17|c.1672+26C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|14/18|c.1672+26C>T|||||| 22 37466936 . G A . . ANN=A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.1699+20C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.1699+20C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.1699+20C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.1699+20C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.1699+20C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.1699+20C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.1699+20C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.1699+20C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.1699+20C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.1699+20C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.1699+20C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.1699+20C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.1699+20C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.1699+20C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.1699+20C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.1699+20C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.1699+20C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000346753|protein_coding|14/18|c.1699+20C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000346753|protein_coding|15/18|c.1699+20C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.1672+20C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.1672+20C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.1672+20C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.1672+20C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.1672+20C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.1672+20C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.1672+20C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.1672+20C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.1672+20C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.1672+20C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.1672+20C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.1672+20C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.1672+20C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.1672+20C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.1672+20C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.1672+20C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.1672+20C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000406725|protein_coding|14/18|c.1672+20C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000406725|protein_coding|15/18|c.1672+20C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000406856|protein_coding|14/19|c.1672+20C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000406856|protein_coding|15/19|c.1672+20C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|14/18|c.1672+20C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|14/17|c.1699+20C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|14/17|c.1672+20C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|14/18|c.1672+20C>T|||||| 22 37466947 . A G . . ANN=G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.1699+9T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.1699+9T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.1699+9T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.1699+9T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.1699+9T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.1699+9T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.1699+9T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.1699+9T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.1699+9T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.1699+9T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.1699+9T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.1699+9T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.1699+9T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.1699+9T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.1699+9T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.1699+9T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.1699+9T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000346753|protein_coding|14/18|c.1699+9T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000346753|protein_coding|15/18|c.1699+9T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.1672+9T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.1672+9T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.1672+9T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.1672+9T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.1672+9T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.1672+9T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.1672+9T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.1672+9T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.1672+9T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.1672+9T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.1672+9T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.1672+9T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.1672+9T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.1672+9T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.1672+9T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.1672+9T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.1672+9T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000406725|protein_coding|14/18|c.1672+9T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000406725|protein_coding|15/18|c.1672+9T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000406856|protein_coding|14/19|c.1672+9T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000406856|protein_coding|15/19|c.1672+9T>C||||||,G|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|14/18|c.1672+9T>C||||||,G|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|14/17|c.1699+9T>C||||||,G|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|14/17|c.1672+9T>C||||||,G|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|14/18|c.1672+9T>C|||||| 22 37466962 . G A . . ANN=A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|14/19|c.1666C>T|p.His556Tyr|1807/3260|1666/2475|556/824||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|14/18|c.1693C>T|p.His565Tyr|1810/3194|1693/2436|565/811||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|14/18|c.1666C>T|p.His556Tyr|1738/3122|1666/2409|556/802||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|14/19|c.1666C>T|p.His556Tyr|1728/3178|1666/2475|556/824||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.1693C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.1693C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.1693C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.1693C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.1693C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.1693C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.1693C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.1693C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.1693C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.1693C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.1693C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.1693C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.1693C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.1693C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.1693C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.1693C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.1693C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000346753|protein_coding|14/18|c.1693C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000346753|protein_coding|15/18|c.1693C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|14/18|c.1693C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.1666C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.1666C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.1666C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.1666C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.1666C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.1666C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.1666C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.1666C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.1666C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.1666C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.1666C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.1666C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.1666C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.1666C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.1666C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.1666C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.1666C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000406725|protein_coding|14/18|c.1666C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000406725|protein_coding|15/18|c.1666C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|14/18|c.1666C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000406856|protein_coding|14/19|c.1666C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000406856|protein_coding|15/19|c.1666C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406856|protein_coding|14/19|c.1666C>T|||||| 22 37466978 . G A . . ANN=A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|14/19|c.1650C>T|p.Asp550Asp|1791/3260|1650/2475|550/824||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|14/18|c.1677C>T|p.Asp559Asp|1794/3194|1677/2436|559/811||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|14/18|c.1650C>T|p.Asp550Asp|1722/3122|1650/2409|550/802||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|14/19|c.1650C>T|p.Asp550Asp|1712/3178|1650/2475|550/824||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.1677C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.1677C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.1677C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.1677C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.1677C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.1677C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.1677C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.1677C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.1677C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.1677C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.1677C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.1677C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.1677C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.1677C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.1677C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.1677C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.1677C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000346753|protein_coding|14/18|c.1677C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000346753|protein_coding|15/18|c.1677C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|14/18|c.1677C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.1650C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.1650C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.1650C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.1650C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.1650C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.1650C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.1650C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.1650C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.1650C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.1650C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.1650C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.1650C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.1650C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.1650C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.1650C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.1650C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.1650C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000406725|protein_coding|14/18|c.1650C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000406725|protein_coding|15/18|c.1650C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|14/18|c.1650C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000406856|protein_coding|14/19|c.1650C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000406856|protein_coding|15/19|c.1650C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406856|protein_coding|14/19|c.1650C>T|||||| 22 37466992 . G A . . ANN=A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|14/19|c.1636C>T|p.Pro546Ser|1777/3260|1636/2475|546/824||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|14/18|c.1663C>T|p.Pro555Ser|1780/3194|1663/2436|555/811||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|14/18|c.1636C>T|p.Pro546Ser|1708/3122|1636/2409|546/802||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|14/19|c.1636C>T|p.Pro546Ser|1698/3178|1636/2475|546/824||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.1663C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.1663C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.1663C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.1663C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.1663C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.1663C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.1663C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.1663C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.1663C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.1663C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.1663C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.1663C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.1663C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.1663C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.1663C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.1663C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.1663C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000346753|protein_coding|14/18|c.1663C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000346753|protein_coding|15/18|c.1663C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|14/18|c.1663C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.1636C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.1636C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.1636C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.1636C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.1636C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.1636C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.1636C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.1636C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.1636C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.1636C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.1636C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.1636C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.1636C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.1636C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.1636C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.1636C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.1636C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000406725|protein_coding|14/18|c.1636C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000406725|protein_coding|15/18|c.1636C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|14/18|c.1636C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000406856|protein_coding|14/19|c.1636C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000406856|protein_coding|15/19|c.1636C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406856|protein_coding|14/19|c.1636C>T|||||| 22 37467001 . C T . . ANN=T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|14/19|c.1627G>A|p.Asp543Asn|1768/3260|1627/2475|543/824||,T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|14/18|c.1654G>A|p.Asp552Asn|1771/3194|1654/2436|552/811||,T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|14/18|c.1627G>A|p.Asp543Asn|1699/3122|1627/2409|543/802||,T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|14/19|c.1627G>A|p.Asp543Asn|1689/3178|1627/2475|543/824||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.1654G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.1654G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.1654G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.1654G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.1654G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.1654G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.1654G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.1654G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.1654G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.1654G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.1654G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.1654G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.1654G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.1654G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.1654G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.1654G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.1654G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000346753|protein_coding|14/18|c.1654G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000346753|protein_coding|15/18|c.1654G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|14/18|c.1654G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.1627G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.1627G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.1627G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.1627G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.1627G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.1627G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.1627G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.1627G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.1627G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.1627G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.1627G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.1627G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.1627G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.1627G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.1627G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.1627G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.1627G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000406725|protein_coding|14/18|c.1627G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000406725|protein_coding|15/18|c.1627G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|14/18|c.1627G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000406856|protein_coding|14/19|c.1627G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000406856|protein_coding|15/19|c.1627G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406856|protein_coding|14/19|c.1627G>A|||||| 22 37467103 . G A . . ANN=A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.1583-31C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.1583-31C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.1583-31C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.1583-31C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.1583-31C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.1583-31C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.1583-31C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.1583-31C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.1583-31C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.1583-31C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.1583-31C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.1583-31C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.1583-31C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.1583-31C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.1583-31C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.1583-31C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.1583-31C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.1556-31C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.1556-31C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.1556-31C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.1556-31C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.1556-31C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.1556-31C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.1556-31C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.1556-31C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.1556-31C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.1556-31C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.1556-31C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.1556-31C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.1556-31C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.1556-31C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.1556-31C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.1556-31C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.1556-31C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|13/18|c.1556-31C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|13/17|c.1583-31C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|13/17|c.1556-31C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|13/18|c.1556-31C>T|||||| 22 37467106 . G A . . ANN=A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.1583-34C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.1583-34C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.1583-34C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.1583-34C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.1583-34C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.1583-34C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.1583-34C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.1583-34C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.1583-34C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.1583-34C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.1583-34C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.1583-34C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.1583-34C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.1583-34C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.1583-34C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.1583-34C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.1583-34C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.1556-34C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.1556-34C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.1556-34C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.1556-34C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.1556-34C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.1556-34C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.1556-34C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.1556-34C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.1556-34C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.1556-34C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.1556-34C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.1556-34C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.1556-34C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.1556-34C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.1556-34C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.1556-34C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.1556-34C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|13/18|c.1556-34C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|13/17|c.1583-34C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|13/17|c.1556-34C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|13/18|c.1556-34C>T|||||| 22 37469555 . G A . . ANN=A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.1582+17C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.1582+17C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.1582+17C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.1582+17C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.1582+17C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.1582+17C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.1582+17C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.1582+17C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.1582+17C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.1582+17C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.1582+17C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.1582+17C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.1582+17C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.1582+17C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.1582+17C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.1582+17C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.1582+17C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.1555+17C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.1555+17C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.1555+17C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.1555+17C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.1555+17C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.1555+17C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.1555+17C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.1555+17C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.1555+17C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.1555+17C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.1555+17C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.1555+17C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.1555+17C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.1555+17C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.1555+17C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.1555+17C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.1555+17C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|13/18|c.1555+17C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|13/17|c.1582+17C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|13/17|c.1555+17C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|13/18|c.1555+17C>T|||||| 22 37469591 . G A . . ANN=A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|13/19|c.1536C>T|p.Asp512Asp|1677/3260|1536/2475|512/824||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|13/18|c.1563C>T|p.Asp521Asp|1680/3194|1563/2436|521/811||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|13/18|c.1536C>T|p.Asp512Asp|1608/3122|1536/2409|512/802||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|13/19|c.1536C>T|p.Asp512Asp|1598/3178|1536/2475|512/824||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.1563C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.1563C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.1563C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.1563C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.1563C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.1563C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.1563C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.1563C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.1563C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.1563C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.1563C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.1563C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.1563C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.1563C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.1563C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.1563C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.1563C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_2|ENST00000346753|protein_coding|13/18|c.1563C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_2|ENST00000346753|protein_coding|12/18|c.1563C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|13/18|c.1563C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.1536C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.1536C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.1536C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.1536C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.1536C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.1536C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.1536C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.1536C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.1536C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.1536C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.1536C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.1536C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.1536C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.1536C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.1536C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.1536C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.1536C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_2|ENST00000406725|protein_coding|13/18|c.1536C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_2|ENST00000406725|protein_coding|12/18|c.1536C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|13/18|c.1536C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_2|ENST00000406856|protein_coding|13/19|c.1536C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_2|ENST00000406856|protein_coding|12/19|c.1536C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406856|protein_coding|13/19|c.1536C>T|||||| 22 37470604 . G A . . ANN=A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.1468+46C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.1468+46C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.1468+46C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.1468+46C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.1468+46C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.1468+46C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.1468+46C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.1468+46C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.1468+46C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.1468+46C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.1468+46C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.1468+46C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.1468+46C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.1468+46C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.1468+46C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.1468+46C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.1468+46C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_2|ENST00000346753|protein_coding|13/18|c.1468+46C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_2|ENST00000346753|protein_coding|12/18|c.1468+46C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.1441+46C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.1441+46C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.1441+46C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.1441+46C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.1441+46C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.1441+46C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.1441+46C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.1441+46C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.1441+46C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.1441+46C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.1441+46C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.1441+46C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.1441+46C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.1441+46C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.1441+46C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.1441+46C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.1441+46C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_2|ENST00000406725|protein_coding|13/18|c.1441+46C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_2|ENST00000406725|protein_coding|12/18|c.1441+46C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_2|ENST00000406856|protein_coding|13/19|c.1441+46C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_2|ENST00000406856|protein_coding|12/19|c.1441+46C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|12/18|c.1441+46C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|12/17|c.1468+46C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|12/17|c.1441+46C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|12/18|c.1441+46C>T|||||| 22 37470623 . G A . . ANN=A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.1468+27C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.1468+27C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.1468+27C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.1468+27C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.1468+27C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.1468+27C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.1468+27C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.1468+27C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.1468+27C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.1468+27C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.1468+27C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.1468+27C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.1468+27C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.1468+27C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.1468+27C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.1468+27C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.1468+27C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_2|ENST00000346753|protein_coding|13/18|c.1468+27C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_2|ENST00000346753|protein_coding|12/18|c.1468+27C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.1441+27C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.1441+27C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.1441+27C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.1441+27C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.1441+27C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.1441+27C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.1441+27C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.1441+27C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.1441+27C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.1441+27C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.1441+27C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.1441+27C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.1441+27C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.1441+27C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.1441+27C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.1441+27C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.1441+27C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_2|ENST00000406725|protein_coding|13/18|c.1441+27C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_2|ENST00000406725|protein_coding|12/18|c.1441+27C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_2|ENST00000406856|protein_coding|13/19|c.1441+27C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_2|ENST00000406856|protein_coding|12/19|c.1441+27C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|12/18|c.1441+27C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|12/17|c.1468+27C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|12/17|c.1441+27C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|12/18|c.1441+27C>T|||||| 22 37470635 . G A . . ANN=A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.1468+15C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.1468+15C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.1468+15C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.1468+15C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.1468+15C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.1468+15C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.1468+15C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.1468+15C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.1468+15C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.1468+15C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.1468+15C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.1468+15C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.1468+15C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.1468+15C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.1468+15C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.1468+15C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.1468+15C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_2|ENST00000346753|protein_coding|13/18|c.1468+15C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_2|ENST00000346753|protein_coding|12/18|c.1468+15C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.1441+15C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.1441+15C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.1441+15C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.1441+15C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.1441+15C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.1441+15C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.1441+15C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.1441+15C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.1441+15C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.1441+15C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.1441+15C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.1441+15C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.1441+15C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.1441+15C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.1441+15C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.1441+15C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.1441+15C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_2|ENST00000406725|protein_coding|13/18|c.1441+15C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_2|ENST00000406725|protein_coding|12/18|c.1441+15C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_2|ENST00000406856|protein_coding|13/19|c.1441+15C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_2|ENST00000406856|protein_coding|12/19|c.1441+15C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|12/18|c.1441+15C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|12/17|c.1468+15C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|12/17|c.1441+15C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|12/18|c.1441+15C>T|||||| 22 37470638 . C T . . ANN=T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.1468+12G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.1468+12G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.1468+12G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.1468+12G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.1468+12G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.1468+12G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.1468+12G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.1468+12G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.1468+12G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.1468+12G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.1468+12G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.1468+12G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.1468+12G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.1468+12G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.1468+12G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.1468+12G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.1468+12G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_2|ENST00000346753|protein_coding|13/18|c.1468+12G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_2|ENST00000346753|protein_coding|12/18|c.1468+12G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.1441+12G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.1441+12G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.1441+12G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.1441+12G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.1441+12G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.1441+12G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.1441+12G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.1441+12G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.1441+12G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.1441+12G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.1441+12G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.1441+12G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.1441+12G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.1441+12G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.1441+12G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.1441+12G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.1441+12G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_2|ENST00000406725|protein_coding|13/18|c.1441+12G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_2|ENST00000406725|protein_coding|12/18|c.1441+12G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_2|ENST00000406856|protein_coding|13/19|c.1441+12G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_2|ENST00000406856|protein_coding|12/19|c.1441+12G>A||||||,T|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|12/18|c.1441+12G>A||||||,T|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|12/17|c.1468+12G>A||||||,T|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|12/17|c.1441+12G>A||||||,T|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|12/18|c.1441+12G>A|||||| 22 37470640 . G A . . ANN=A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.1468+10C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.1468+10C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.1468+10C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.1468+10C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.1468+10C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.1468+10C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.1468+10C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.1468+10C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.1468+10C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.1468+10C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.1468+10C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.1468+10C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.1468+10C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.1468+10C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.1468+10C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.1468+10C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.1468+10C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_2|ENST00000346753|protein_coding|13/18|c.1468+10C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_2|ENST00000346753|protein_coding|12/18|c.1468+10C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.1441+10C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.1441+10C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.1441+10C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.1441+10C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.1441+10C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.1441+10C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.1441+10C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.1441+10C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.1441+10C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.1441+10C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.1441+10C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.1441+10C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.1441+10C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.1441+10C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.1441+10C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.1441+10C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.1441+10C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_2|ENST00000406725|protein_coding|13/18|c.1441+10C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_2|ENST00000406725|protein_coding|12/18|c.1441+10C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_2|ENST00000406856|protein_coding|13/19|c.1441+10C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_2|ENST00000406856|protein_coding|12/19|c.1441+10C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|12/18|c.1441+10C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|12/17|c.1468+10C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|12/17|c.1441+10C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|12/18|c.1441+10C>T|||||| 22 37470665 . C G . . ANN=G|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|12/19|c.1426G>C|p.Asp476His|1567/3260|1426/2475|476/824||,G|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|12/18|c.1453G>C|p.Asp485His|1570/3194|1453/2436|485/811||,G|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|12/18|c.1426G>C|p.Asp476His|1498/3122|1426/2409|476/802||,G|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|12/19|c.1426G>C|p.Asp476His|1488/3178|1426/2475|476/824||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.1453G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.1453G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.1453G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.1453G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.1453G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.1453G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.1453G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.1453G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.1453G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.1453G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.1453G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.1453G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.1453G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.1453G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.1453G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.1453G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.1453G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|12/18|c.1453G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_1|ENST00000346753|protein_coding|11/18|c.1453G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_1|ENST00000346753|protein_coding|12/18|c.1453G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.1426G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.1426G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.1426G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.1426G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.1426G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.1426G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.1426G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.1426G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.1426G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.1426G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.1426G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.1426G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.1426G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.1426G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.1426G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.1426G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.1426G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|12/18|c.1426G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_1|ENST00000406725|protein_coding|11/18|c.1426G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_1|ENST00000406725|protein_coding|12/18|c.1426G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406856|protein_coding|12/19|c.1426G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_1|ENST00000406856|protein_coding|11/19|c.1426G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_1|ENST00000406856|protein_coding|12/19|c.1426G>C|||||| 22 37471153 . T A . . ANN=A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.1369+22A>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.1369+22A>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.1369+22A>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.1369+22A>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.1369+22A>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.1369+22A>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.1369+22A>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.1369+22A>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.1369+22A>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.1369+22A>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.1369+22A>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.1369+22A>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.1369+22A>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.1369+22A>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.1369+22A>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.1369+22A>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.1369+22A>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_1|ENST00000346753|protein_coding|11/18|c.1369+22A>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_1|ENST00000346753|protein_coding|12/18|c.1369+22A>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.1342+22A>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.1342+22A>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.1342+22A>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.1342+22A>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.1342+22A>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.1342+22A>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.1342+22A>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.1342+22A>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.1342+22A>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.1342+22A>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.1342+22A>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.1342+22A>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.1342+22A>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.1342+22A>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.1342+22A>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.1342+22A>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.1342+22A>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_1|ENST00000406725|protein_coding|11/18|c.1342+22A>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_1|ENST00000406725|protein_coding|12/18|c.1342+22A>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_1|ENST00000406856|protein_coding|11/19|c.1342+22A>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_1|ENST00000406856|protein_coding|12/19|c.1342+22A>T||||||,A|upstream_gene_variant|MODIFIER|RP5-1170K4.7|ENSG00000231467|transcript|ENST00000414203|antisense||n.-1T>A|||||4955|,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|11/18|c.1342+22A>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|11/17|c.1369+22A>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|11/17|c.1342+22A>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|11/18|c.1342+22A>T|||||| 22 37471208 . G A . . ANN=A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|11/19|c.1309C>T|p.Arg437Trp|1450/3260|1309/2475|437/824||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|11/18|c.1336C>T|p.Arg446Trp|1453/3194|1336/2436|446/811||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|11/18|c.1309C>T|p.Arg437Trp|1381/3122|1309/2409|437/802||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|11/19|c.1309C>T|p.Arg437Trp|1371/3178|1309/2475|437/824||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.1336C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.1336C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.1336C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.1336C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.1336C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.1336C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.1336C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.1336C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.1336C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.1336C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.1336C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.1336C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.1336C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.1336C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.1336C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.1336C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.1336C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|9/18|c.1336C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|11/18|c.1336C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|10/18|c.1336C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.1309C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.1309C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.1309C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.1309C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.1309C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.1309C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.1309C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.1309C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.1309C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.1309C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.1309C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.1309C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.1309C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.1309C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.1309C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.1309C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.1309C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|9/18|c.1309C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|11/18|c.1309C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|10/18|c.1309C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|9/19|c.1309C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|11/19|c.1309C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|10/19|c.1309C>T||||||,A|upstream_gene_variant|MODIFIER|RP5-1170K4.7|ENSG00000231467|transcript|ENST00000414203|antisense||n.-1G>A|||||4900| 22 37471289 . C T . . ANN=T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|11/19|c.1228G>A|p.Ala410Thr|1369/3260|1228/2475|410/824||,T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|11/18|c.1255G>A|p.Ala419Thr|1372/3194|1255/2436|419/811||,T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|11/18|c.1228G>A|p.Ala410Thr|1300/3122|1228/2409|410/802||,T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|11/19|c.1228G>A|p.Ala410Thr|1290/3178|1228/2475|410/824||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.1255G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.1255G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.1255G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.1255G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.1255G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.1255G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.1255G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.1255G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.1255G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.1255G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.1255G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.1255G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.1255G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.1255G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.1255G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.1255G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.1255G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|9/18|c.1255G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|11/18|c.1255G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|10/18|c.1255G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.1228G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.1228G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.1228G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.1228G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.1228G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.1228G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.1228G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.1228G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.1228G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.1228G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.1228G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.1228G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.1228G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.1228G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.1228G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.1228G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.1228G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|9/18|c.1228G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|11/18|c.1228G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|10/18|c.1228G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|9/19|c.1228G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|11/19|c.1228G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|10/19|c.1228G>A||||||,T|upstream_gene_variant|MODIFIER|RP5-1170K4.7|ENSG00000231467|transcript|ENST00000414203|antisense||n.-1C>T|||||4819| 22 37471290 . G A . . ANN=A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|11/19|c.1227C>T|p.Tyr409Tyr|1368/3260|1227/2475|409/824||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|11/18|c.1254C>T|p.Tyr418Tyr|1371/3194|1254/2436|418/811||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|11/18|c.1227C>T|p.Tyr409Tyr|1299/3122|1227/2409|409/802||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|11/19|c.1227C>T|p.Tyr409Tyr|1289/3178|1227/2475|409/824||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.1254C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.1254C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.1254C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.1254C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.1254C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.1254C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.1254C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.1254C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.1254C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.1254C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.1254C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.1254C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.1254C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.1254C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.1254C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.1254C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.1254C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|9/18|c.1254C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|11/18|c.1254C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|10/18|c.1254C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.1227C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.1227C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.1227C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.1227C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.1227C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.1227C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.1227C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.1227C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.1227C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.1227C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.1227C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.1227C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.1227C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.1227C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.1227C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.1227C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.1227C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|9/18|c.1227C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|11/18|c.1227C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|10/18|c.1227C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|9/19|c.1227C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|11/19|c.1227C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|10/19|c.1227C>T||||||,A|upstream_gene_variant|MODIFIER|RP5-1170K4.7|ENSG00000231467|transcript|ENST00000414203|antisense||n.-1G>A|||||4818| 22 37471300 . A G . . ANN=G|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|11/19|c.1217T>C|p.Leu406Pro|1358/3260|1217/2475|406/824||,G|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|11/18|c.1244T>C|p.Leu415Pro|1361/3194|1244/2436|415/811||,G|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|11/18|c.1217T>C|p.Leu406Pro|1289/3122|1217/2409|406/802||,G|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|11/19|c.1217T>C|p.Leu406Pro|1279/3178|1217/2475|406/824||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.1244T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.1244T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.1244T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.1244T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.1244T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.1244T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.1244T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.1244T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.1244T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.1244T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.1244T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.1244T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.1244T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.1244T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.1244T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.1244T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.1244T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|9/18|c.1244T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|11/18|c.1244T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|10/18|c.1244T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.1217T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.1217T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.1217T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.1217T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.1217T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.1217T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.1217T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.1217T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.1217T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.1217T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.1217T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.1217T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.1217T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.1217T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.1217T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.1217T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.1217T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|9/18|c.1217T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|11/18|c.1217T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|10/18|c.1217T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|9/19|c.1217T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|11/19|c.1217T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|10/19|c.1217T>C||||||,G|upstream_gene_variant|MODIFIER|RP5-1170K4.7|ENSG00000231467|transcript|ENST00000414203|antisense||n.-1A>G|||||4808| 22 37471311 . G A . . ANN=A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|11/19|c.1206C>T|p.Gly402Gly|1347/3260|1206/2475|402/824||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|11/18|c.1233C>T|p.Gly411Gly|1350/3194|1233/2436|411/811||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|11/18|c.1206C>T|p.Gly402Gly|1278/3122|1206/2409|402/802||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|11/19|c.1206C>T|p.Gly402Gly|1268/3178|1206/2475|402/824||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.1233C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.1233C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.1233C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.1233C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.1233C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.1233C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.1233C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.1233C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.1233C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.1233C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.1233C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.1233C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.1233C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.1233C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.1233C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.1233C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.1233C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|9/18|c.1233C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|11/18|c.1233C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|10/18|c.1233C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.1206C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.1206C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.1206C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.1206C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.1206C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.1206C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.1206C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.1206C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.1206C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.1206C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.1206C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.1206C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.1206C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.1206C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.1206C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.1206C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.1206C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|9/18|c.1206C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|11/18|c.1206C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|10/18|c.1206C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|9/19|c.1206C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|11/19|c.1206C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|10/19|c.1206C>T||||||,A|upstream_gene_variant|MODIFIER|RP5-1170K4.7|ENSG00000231467|transcript|ENST00000414203|antisense||n.-1G>A|||||4797| 22 37471338 . C A . . ANN=A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.1224-18G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.1224-18G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.1224-18G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.1224-18G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.1224-18G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.1224-18G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.1224-18G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.1224-18G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.1224-18G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.1224-18G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.1224-18G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.1224-18G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.1224-18G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.1224-18G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.1224-18G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.1224-18G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.1224-18G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|9/18|c.1224-18G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|11/18|c.1224-18G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|10/18|c.1224-18G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.1197-18G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.1197-18G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.1197-18G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.1197-18G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.1197-18G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.1197-18G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.1197-18G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.1197-18G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.1197-18G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.1197-18G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.1197-18G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.1197-18G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.1197-18G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.1197-18G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.1197-18G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.1197-18G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.1197-18G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|9/18|c.1197-18G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|11/18|c.1197-18G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|10/18|c.1197-18G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|9/19|c.1197-18G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|11/19|c.1197-18G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|10/19|c.1197-18G>T||||||,A|upstream_gene_variant|MODIFIER|RP5-1170K4.7|ENSG00000231467|transcript|ENST00000414203|antisense||n.-1C>A|||||4770|,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|10/18|c.1197-18G>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|10/17|c.1224-18G>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|10/17|c.1197-18G>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|10/18|c.1197-18G>T|||||| 22 37480291 . G C . . ANN=C|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|10/10|c.1267C>G|p.Pro423Ala|1384/1695|1267/1386|423/461||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.1223+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.1223+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.1223+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.1223+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.1223+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.1223+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.1223+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.1223+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.1223+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.1223+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.1223+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.1223+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.1223+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.1223+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.1223+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.1223+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.1223+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|9/18|c.1223+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|11/18|c.1223+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|10/18|c.1223+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.1196+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.1196+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.1196+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.1196+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.1196+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.1196+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.1196+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.1196+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.1196+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.1196+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.1196+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.1196+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.1196+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.1196+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.1196+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.1196+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.1196+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|9/18|c.1196+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|11/18|c.1196+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|10/18|c.1196+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|9/19|c.1196+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|11/19|c.1196+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|10/19|c.1196+44C>G||||||,C|downstream_gene_variant|MODIFIER|RP5-1170K4.7|ENSG00000231467|transcript|ENST00000414203|antisense||n.*464G>C|||||1404|,C|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|10/18|c.1196+44C>G||||||,C|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|10/17|c.1223+44C>G||||||,C|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|10/17|c.1196+44C>G||||||,C|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|10/18|c.1196+44C>G||||||,C|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000429068|protein_coding|2/2|c.209+44C>G|||||| 22 37480294 . G T . . ANN=T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|10/10|c.1264C>A|p.Pro422Thr|1381/1695|1264/1386|422/461||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.1223+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.1223+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.1223+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.1223+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.1223+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.1223+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.1223+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.1223+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.1223+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.1223+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.1223+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.1223+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.1223+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.1223+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.1223+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.1223+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.1223+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|9/18|c.1223+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|11/18|c.1223+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|10/18|c.1223+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.1196+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.1196+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.1196+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.1196+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.1196+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.1196+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.1196+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.1196+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.1196+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.1196+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.1196+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.1196+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.1196+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.1196+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.1196+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.1196+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.1196+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|9/18|c.1196+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|11/18|c.1196+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|10/18|c.1196+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|9/19|c.1196+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|11/19|c.1196+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|10/19|c.1196+41C>A||||||,T|downstream_gene_variant|MODIFIER|RP5-1170K4.7|ENSG00000231467|transcript|ENST00000414203|antisense||n.*464G>T|||||1407|,T|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|10/18|c.1196+41C>A||||||,T|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|10/17|c.1223+41C>A||||||,T|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|10/17|c.1196+41C>A||||||,T|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|10/18|c.1196+41C>A||||||,T|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000429068|protein_coding|2/2|c.209+41C>A|||||| 22 37480797 . C T . . ANN=T|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|9/19|c.1056G>A|p.Ser352Ser|1197/3260|1056/2475|352/824||,T|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|9/18|c.1083G>A|p.Ser361Ser|1200/3194|1083/2436|361/811||,T|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|9/18|c.1056G>A|p.Ser352Ser|1128/3122|1056/2409|352/802||,T|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|9/19|c.1056G>A|p.Ser352Ser|1118/3178|1056/2475|352/824||,T|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000429068|protein_coding|1/3|c.69G>A|p.Ser23Ser|69/446|69/216|23/71||,T|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|9/10|c.1083G>A|p.Ser361Ser|1200/1695|1083/1386|361/461||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.1083G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.1083G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.1083G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.1083G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.1083G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.1083G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.1083G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.1083G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.1083G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.1083G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.1083G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.1083G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.1083G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.1083G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.1083G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.1083G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.1083G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|9/18|c.1083G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|11/18|c.1083G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|10/18|c.1083G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|9/18|c.1083G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.1056G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.1056G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.1056G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.1056G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.1056G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.1056G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.1056G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.1056G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.1056G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.1056G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.1056G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.1056G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.1056G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.1056G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.1056G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.1056G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.1056G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|9/18|c.1056G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|11/18|c.1056G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|10/18|c.1056G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|9/18|c.1056G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|9/19|c.1056G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|11/19|c.1056G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|10/19|c.1056G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406856|protein_coding|9/19|c.1056G>A||||||,T|downstream_gene_variant|MODIFIER|RP5-1170K4.7|ENSG00000231467|transcript|ENST00000414203|antisense||n.*464C>T|||||1910| 22 37480815 . G T . . ANN=T|stop_gained|HIGH|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|9/19|c.1038C>A|p.Tyr346*|1179/3260|1038/2475|346/824||,T|stop_gained|HIGH|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|9/18|c.1065C>A|p.Tyr355*|1182/3194|1065/2436|355/811||,T|stop_gained|HIGH|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|9/18|c.1038C>A|p.Tyr346*|1110/3122|1038/2409|346/802||,T|stop_gained|HIGH|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|9/19|c.1038C>A|p.Tyr346*|1100/3178|1038/2475|346/824||,T|stop_gained|HIGH|TMPRSS6|ENSG00000187045|transcript|ENST00000429068|protein_coding|1/3|c.51C>A|p.Tyr17*|51/446|51/216|17/71||,T|stop_gained|HIGH|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|9/10|c.1065C>A|p.Tyr355*|1182/1695|1065/1386|355/461||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.1065C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.1065C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.1065C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.1065C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.1065C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.1065C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.1065C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.1065C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.1065C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.1065C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.1065C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.1065C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.1065C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.1065C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.1065C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.1065C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.1065C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|9/18|c.1065C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|11/18|c.1065C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|10/18|c.1065C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|9/18|c.1065C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.1038C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.1038C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.1038C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.1038C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.1038C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.1038C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.1038C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.1038C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.1038C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.1038C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.1038C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.1038C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.1038C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.1038C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.1038C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.1038C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.1038C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|9/18|c.1038C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|11/18|c.1038C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|10/18|c.1038C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|9/18|c.1038C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|9/19|c.1038C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|11/19|c.1038C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|10/19|c.1038C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406856|protein_coding|9/19|c.1038C>A||||||,T|downstream_gene_variant|MODIFIER|RP5-1170K4.7|ENSG00000231467|transcript|ENST00000414203|antisense||n.*464G>T|||||1928|;LOF=(TMPRSS6|ENSG00000187045|7|0.71);NMD=(TMPRSS6|ENSG00000187045|7|0.71) 22 37480818 . C T . . ANN=T|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|9/19|c.1035G>A|p.Pro345Pro|1176/3260|1035/2475|345/824||,T|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|9/18|c.1062G>A|p.Pro354Pro|1179/3194|1062/2436|354/811||,T|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|9/18|c.1035G>A|p.Pro345Pro|1107/3122|1035/2409|345/802||,T|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|9/19|c.1035G>A|p.Pro345Pro|1097/3178|1035/2475|345/824||,T|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000429068|protein_coding|1/3|c.48G>A|p.Pro16Pro|48/446|48/216|16/71||,T|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|9/10|c.1062G>A|p.Pro354Pro|1179/1695|1062/1386|354/461||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.1062G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.1062G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.1062G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.1062G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.1062G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.1062G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.1062G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.1062G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.1062G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.1062G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.1062G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.1062G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.1062G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.1062G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.1062G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.1062G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.1062G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|9/18|c.1062G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|11/18|c.1062G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|10/18|c.1062G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|9/18|c.1062G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.1035G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.1035G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.1035G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.1035G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.1035G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.1035G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.1035G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.1035G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.1035G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.1035G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.1035G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.1035G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.1035G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.1035G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.1035G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.1035G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.1035G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|9/18|c.1035G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|11/18|c.1035G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|10/18|c.1035G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|9/18|c.1035G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|9/19|c.1035G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|11/19|c.1035G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|10/19|c.1035G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406856|protein_coding|9/19|c.1035G>A||||||,T|downstream_gene_variant|MODIFIER|RP5-1170K4.7|ENSG00000231467|transcript|ENST00000414203|antisense||n.*464C>T|||||1931| 22 37480832 . C T . . ANN=T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|9/19|c.1021G>A|p.Val341Ile|1162/3260|1021/2475|341/824||,T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|9/18|c.1048G>A|p.Val350Ile|1165/3194|1048/2436|350/811||,T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|9/18|c.1021G>A|p.Val341Ile|1093/3122|1021/2409|341/802||,T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|9/19|c.1021G>A|p.Val341Ile|1083/3178|1021/2475|341/824||,T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000429068|protein_coding|1/3|c.34G>A|p.Val12Ile|34/446|34/216|12/71||,T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|9/10|c.1048G>A|p.Val350Ile|1165/1695|1048/1386|350/461||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.1048G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.1048G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.1048G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.1048G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.1048G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.1048G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.1048G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.1048G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.1048G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.1048G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.1048G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.1048G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.1048G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.1048G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.1048G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.1048G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.1048G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|9/18|c.1048G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|11/18|c.1048G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|10/18|c.1048G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|9/18|c.1048G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.1021G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.1021G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.1021G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.1021G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.1021G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.1021G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.1021G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.1021G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.1021G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.1021G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.1021G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.1021G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.1021G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.1021G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.1021G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.1021G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.1021G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|9/18|c.1021G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|11/18|c.1021G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|10/18|c.1021G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|9/18|c.1021G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|9/19|c.1021G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|11/19|c.1021G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|10/19|c.1021G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406856|protein_coding|9/19|c.1021G>A||||||,T|downstream_gene_variant|MODIFIER|RP5-1170K4.7|ENSG00000231467|transcript|ENST00000414203|antisense||n.*464C>T|||||1945| 22 37480833 . G A . . ANN=A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|9/19|c.1020C>T|p.Gly340Gly|1161/3260|1020/2475|340/824||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|9/18|c.1047C>T|p.Gly349Gly|1164/3194|1047/2436|349/811||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|9/18|c.1020C>T|p.Gly340Gly|1092/3122|1020/2409|340/802||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|9/19|c.1020C>T|p.Gly340Gly|1082/3178|1020/2475|340/824||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000429068|protein_coding|1/3|c.33C>T|p.Gly11Gly|33/446|33/216|11/71||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|9/10|c.1047C>T|p.Gly349Gly|1164/1695|1047/1386|349/461||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.1047C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.1047C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.1047C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.1047C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.1047C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.1047C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.1047C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.1047C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.1047C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.1047C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.1047C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.1047C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.1047C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.1047C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.1047C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.1047C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.1047C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|9/18|c.1047C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|11/18|c.1047C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|10/18|c.1047C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|9/18|c.1047C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.1020C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.1020C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.1020C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.1020C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.1020C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.1020C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.1020C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.1020C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.1020C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.1020C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.1020C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.1020C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.1020C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.1020C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.1020C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.1020C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.1020C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|9/18|c.1020C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|11/18|c.1020C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|10/18|c.1020C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|9/18|c.1020C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|9/19|c.1020C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|11/19|c.1020C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|10/19|c.1020C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406856|protein_coding|9/19|c.1020C>T||||||,A|downstream_gene_variant|MODIFIER|RP5-1170K4.7|ENSG00000231467|transcript|ENST00000414203|antisense||n.*464G>A|||||1946| 22 37480861 . G A . . ANN=A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|9/19|c.992C>T|p.Thr331Met|1133/3260|992/2475|331/824||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|9/18|c.1019C>T|p.Thr340Met|1136/3194|1019/2436|340/811||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|9/18|c.992C>T|p.Thr331Met|1064/3122|992/2409|331/802||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|9/19|c.992C>T|p.Thr331Met|1054/3178|992/2475|331/824||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000429068|protein_coding|1/3|c.5C>T|p.Thr2Met|5/446|5/216|2/71||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|9/10|c.1019C>T|p.Thr340Met|1136/1695|1019/1386|340/461||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.1019C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.1019C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.1019C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.1019C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.1019C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.1019C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.1019C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.1019C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.1019C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.1019C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.1019C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.1019C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.1019C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.1019C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.1019C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.1019C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.1019C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|9/18|c.1019C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|11/18|c.1019C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|10/18|c.1019C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|9/18|c.1019C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.992C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.992C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.992C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.992C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.992C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.992C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.992C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.992C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.992C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.992C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.992C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.992C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.992C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.992C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.992C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.992C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.992C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|9/18|c.992C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|11/18|c.992C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|10/18|c.992C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|9/18|c.992C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|9/19|c.992C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|11/19|c.992C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|10/19|c.992C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406856|protein_coding|9/19|c.992C>T||||||,A|downstream_gene_variant|MODIFIER|RP5-1170K4.7|ENSG00000231467|transcript|ENST00000414203|antisense||n.*464G>A|||||1974| 22 37482289 . C T . . ANN=T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.1000+34G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.1000+34G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.1000+34G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.1000+34G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.1000+34G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.1000+34G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.1000+34G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.1000+34G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.1000+34G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.1000+34G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.1000+34G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.1000+34G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.1000+34G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.1000+34G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.1000+34G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.1000+34G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.1000+34G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|9/18|c.1000+34G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|8/18|c.1000+34G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|7/18|c.1000+34G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|6/18|c.1000+34G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.973+34G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.973+34G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.973+34G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.973+34G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.973+34G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.973+34G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.973+34G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.973+34G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.973+34G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.973+34G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.973+34G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.973+34G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.973+34G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.973+34G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.973+34G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.973+34G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.973+34G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|9/18|c.973+34G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|8/18|c.973+34G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|7/18|c.973+34G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|6/18|c.973+34G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|9/19|c.973+34G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|8/19|c.973+34G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|7/19|c.973+34G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|6/19|c.973+34G>A||||||,T|upstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000429068|protein_coding||c.-1G>A|||||1424|,T|downstream_gene_variant|MODIFIER|RP5-1170K4.7|ENSG00000231467|transcript|ENST00000414203|antisense||n.*464C>T|||||3402|,T|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|8/18|c.973+34G>A||||||,T|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|8/17|c.1000+34G>A||||||,T|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|8/17|c.973+34G>A||||||,T|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|8/18|c.973+34G>A||||||,T|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|8/9|c.1000+34G>A|||||| 22 37482333 . C T . . ANN=T|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|8/19|c.963G>A|p.Val321Val|1104/3260|963/2475|321/824||,T|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|8/18|c.990G>A|p.Val330Val|1107/3194|990/2436|330/811||,T|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|8/18|c.963G>A|p.Val321Val|1035/3122|963/2409|321/802||,T|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|8/19|c.963G>A|p.Val321Val|1025/3178|963/2475|321/824||,T|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|8/10|c.990G>A|p.Val330Val|1107/1695|990/1386|330/461||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.990G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.990G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.990G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.990G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.990G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.990G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.990G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.990G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.990G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.990G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.990G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.990G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.990G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.990G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.990G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.990G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.990G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|9/18|c.990G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|8/18|c.990G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|7/18|c.990G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|6/18|c.990G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.963G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.963G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.963G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.963G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.963G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.963G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.963G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.963G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.963G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.963G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.963G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.963G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.963G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.963G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.963G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.963G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.963G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|9/18|c.963G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|8/18|c.963G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|7/18|c.963G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|6/18|c.963G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|9/19|c.963G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|8/19|c.963G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|7/19|c.963G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|6/19|c.963G>A||||||,T|upstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000429068|protein_coding||c.-1G>A|||||1468|,T|downstream_gene_variant|MODIFIER|RP5-1170K4.7|ENSG00000231467|transcript|ENST00000414203|antisense||n.*464C>T|||||3446| 22 37482336 . C T . . ANN=T|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|8/19|c.960G>A|p.Pro320Pro|1101/3260|960/2475|320/824||,T|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|8/18|c.987G>A|p.Pro329Pro|1104/3194|987/2436|329/811||,T|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|8/18|c.960G>A|p.Pro320Pro|1032/3122|960/2409|320/802||,T|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|8/19|c.960G>A|p.Pro320Pro|1022/3178|960/2475|320/824||,T|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|8/10|c.987G>A|p.Pro329Pro|1104/1695|987/1386|329/461||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.987G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.987G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.987G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.987G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.987G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.987G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.987G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.987G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.987G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.987G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.987G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.987G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.987G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.987G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.987G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.987G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.987G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|9/18|c.987G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|8/18|c.987G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|7/18|c.987G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|6/18|c.987G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.960G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.960G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.960G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.960G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.960G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.960G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.960G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.960G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.960G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.960G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.960G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.960G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.960G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.960G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.960G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.960G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.960G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|9/18|c.960G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|8/18|c.960G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|7/18|c.960G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|6/18|c.960G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|9/19|c.960G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|8/19|c.960G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|7/19|c.960G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|6/19|c.960G>A||||||,T|upstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000429068|protein_coding||c.-1G>A|||||1471|,T|downstream_gene_variant|MODIFIER|RP5-1170K4.7|ENSG00000231467|transcript|ENST00000414203|antisense||n.*464C>T|||||3449| 22 37482353 . C T . . ANN=T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|8/19|c.943G>A|p.Val315Met|1084/3260|943/2475|315/824||,T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|8/18|c.970G>A|p.Val324Met|1087/3194|970/2436|324/811||,T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|8/18|c.943G>A|p.Val315Met|1015/3122|943/2409|315/802||,T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|8/19|c.943G>A|p.Val315Met|1005/3178|943/2475|315/824||,T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|8/10|c.970G>A|p.Val324Met|1087/1695|970/1386|324/461||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.970G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.970G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.970G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.970G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.970G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.970G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.970G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.970G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.970G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.970G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.970G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.970G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.970G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.970G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.970G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.970G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.970G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|9/18|c.970G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|8/18|c.970G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|7/18|c.970G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|6/18|c.970G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.943G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.943G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.943G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.943G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.943G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.943G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.943G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.943G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.943G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.943G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.943G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.943G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.943G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.943G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.943G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.943G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.943G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|9/18|c.943G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|8/18|c.943G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|7/18|c.943G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|6/18|c.943G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|9/19|c.943G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|8/19|c.943G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|7/19|c.943G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|6/19|c.943G>A||||||,T|upstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000429068|protein_coding||c.-1G>A|||||1488|,T|downstream_gene_variant|MODIFIER|RP5-1170K4.7|ENSG00000231467|transcript|ENST00000414203|antisense||n.*464C>T|||||3466| 22 37482376 . AG A . . ANN=|frameshift_variant|HIGH|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|8/19|c.919delC|p.Leu307fs|1060/3260|919/2475|307/824||,|frameshift_variant|HIGH|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|8/18|c.946delC|p.Leu316fs|1063/3194|946/2436|316/811||,|frameshift_variant|HIGH|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|8/18|c.919delC|p.Leu307fs|991/3122|919/2409|307/802||,|frameshift_variant|HIGH|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|8/19|c.919delC|p.Leu307fs|981/3178|919/2475|307/824||,|frameshift_variant|HIGH|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|8/10|c.946delC|p.Leu316fs|1063/1695|946/1386|316/461||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.946delC||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.946delC||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.946delC||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.946delC||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.946delC||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.946delC||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.946delC||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.946delC||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.946delC||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.946delC||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.946delC||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.946delC||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.946delC||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.946delC||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.946delC||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.946delC||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.946delC||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|9/18|c.946delC||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|8/18|c.946delC||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|7/18|c.946delC||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|6/18|c.946delC||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.919delC||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.919delC||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.919delC||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.919delC||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.919delC||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.919delC||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.919delC||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.919delC||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.919delC||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.919delC||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.919delC||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.919delC||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.919delC||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.919delC||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.919delC||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.919delC||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.919delC||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|9/18|c.919delC||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|8/18|c.919delC||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|7/18|c.919delC||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|6/18|c.919delC||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|9/19|c.919delC||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|8/19|c.919delC||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|7/19|c.919delC||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|6/19|c.919delC||||||,|upstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000429068|protein_coding||c.-1delC|||||1512|,|downstream_gene_variant|MODIFIER|RP5-1170K4.7|ENSG00000231467|transcript|ENST00000414203|antisense||n.*464delG|||||3490|;LOF=(TMPRSS6|ENSG00000187045|7|0.71) 22 37482458 . C A . . ANN=A|missense_variant&splice_region_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|8/19|c.838G>T|p.Val280Leu|979/3260|838/2475|280/824||,A|missense_variant&splice_region_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|8/18|c.865G>T|p.Val289Leu|982/3194|865/2436|289/811||,A|missense_variant&splice_region_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|8/18|c.838G>T|p.Val280Leu|910/3122|838/2409|280/802||,A|missense_variant&splice_region_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|8/19|c.838G>T|p.Val280Leu|900/3178|838/2475|280/824||,A|missense_variant&splice_region_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|8/10|c.865G>T|p.Val289Leu|982/1695|865/1386|289/461||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.865G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.865G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.865G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.865G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.865G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.865G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.865G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.865G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.865G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.865G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.865G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.865G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.865G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.865G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.865G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.865G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.865G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|9/18|c.865G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|8/18|c.865G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|7/18|c.865G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|6/18|c.865G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.838G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.838G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.838G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.838G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.838G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.838G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.838G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.838G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.838G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.838G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.838G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.838G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.838G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.838G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.838G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.838G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.838G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|9/18|c.838G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|8/18|c.838G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|7/18|c.838G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|6/18|c.838G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|9/19|c.838G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|8/19|c.838G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|7/19|c.838G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|6/19|c.838G>T||||||,A|upstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000429068|protein_coding||c.-1G>T|||||1593|,A|downstream_gene_variant|MODIFIER|RP5-1170K4.7|ENSG00000231467|transcript|ENST00000414203|antisense||n.*464C>A|||||3571| 22 37485595 . T C . . ANN=C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.863+23A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.863+23A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.863+23A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.863+23A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.863+23A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.863+23A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.863+23A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.863+23A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.863+23A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.863+23A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.863+23A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.863+23A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.863+23A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.863+23A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.863+23A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.863+23A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.863+23A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|9/18|c.863+23A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|8/18|c.863+23A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|7/18|c.863+23A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|6/18|c.863+23A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.836+23A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.836+23A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.836+23A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.836+23A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.836+23A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.836+23A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.836+23A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.836+23A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.836+23A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.836+23A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.836+23A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.836+23A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.836+23A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.836+23A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.836+23A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.836+23A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.836+23A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|9/18|c.836+23A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|8/18|c.836+23A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|7/18|c.836+23A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|6/18|c.836+23A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|9/19|c.836+23A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|8/19|c.836+23A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|7/19|c.836+23A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|6/19|c.836+23A>G||||||,C|upstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000429068|protein_coding||c.-1A>G|||||4730|,C|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|7/18|c.836+23A>G||||||,C|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|7/17|c.863+23A>G||||||,C|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|7/17|c.836+23A>G||||||,C|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|7/18|c.836+23A>G||||||,C|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|7/9|c.863+23A>G|||||| 22 37485618 . G A . . ANN=A|missense_variant&splice_region_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|7/19|c.836C>T|p.Ser279Leu|977/3260|836/2475|279/824||,A|missense_variant&splice_region_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|7/18|c.863C>T|p.Ser288Leu|980/3194|863/2436|288/811||,A|missense_variant&splice_region_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|7/18|c.836C>T|p.Ser279Leu|908/3122|836/2409|279/802||,A|missense_variant&splice_region_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|7/19|c.836C>T|p.Ser279Leu|898/3178|836/2475|279/824||,A|missense_variant&splice_region_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|7/10|c.863C>T|p.Ser288Leu|980/1695|863/1386|288/461||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.863C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.863C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.863C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.863C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.863C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.863C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.863C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.863C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.863C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.863C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.863C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.863C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.863C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.863C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.863C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.863C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.863C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|9/18|c.863C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|8/18|c.863C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|7/18|c.863C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|6/18|c.863C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.836C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.836C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.836C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.836C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.836C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.836C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.836C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.836C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.836C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.836C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.836C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.836C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.836C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.836C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.836C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.836C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.836C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|9/18|c.836C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|8/18|c.836C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|7/18|c.836C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|6/18|c.836C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|9/19|c.836C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|8/19|c.836C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|7/19|c.836C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|6/19|c.836C>T||||||,A|upstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000429068|protein_coding||c.-1C>T|||||4753| 22 37485647 . G A . . ANN=A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|7/19|c.807C>T|p.Ala269Ala|948/3260|807/2475|269/824||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|7/18|c.834C>T|p.Ala278Ala|951/3194|834/2436|278/811||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|7/18|c.807C>T|p.Ala269Ala|879/3122|807/2409|269/802||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|7/19|c.807C>T|p.Ala269Ala|869/3178|807/2475|269/824||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|7/10|c.834C>T|p.Ala278Ala|951/1695|834/1386|278/461||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.834C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.834C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.834C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.834C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.834C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.834C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.834C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.834C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.834C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.834C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.834C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.834C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.834C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.834C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.834C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.834C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.834C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|9/18|c.834C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|8/18|c.834C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|7/18|c.834C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|6/18|c.834C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.807C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.807C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.807C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.807C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.807C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.807C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.807C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.807C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.807C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.807C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.807C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.807C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.807C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.807C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.807C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.807C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.807C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|9/18|c.807C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|8/18|c.807C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|7/18|c.807C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|6/18|c.807C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|9/19|c.807C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|8/19|c.807C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|7/19|c.807C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|6/19|c.807C>T||||||,A|upstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000429068|protein_coding||c.-1C>T|||||4782| 22 37485714 . A T . . ANN=T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|7/19|c.740T>A|p.Met247Lys|881/3260|740/2475|247/824||,T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|7/18|c.767T>A|p.Met256Lys|884/3194|767/2436|256/811||,T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|7/18|c.740T>A|p.Met247Lys|812/3122|740/2409|247/802||,T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|7/19|c.740T>A|p.Met247Lys|802/3178|740/2475|247/824||,T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|7/10|c.767T>A|p.Met256Lys|884/1695|767/1386|256/461||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.767T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.767T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.767T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.767T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.767T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.767T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.767T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.767T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.767T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.767T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.767T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.767T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.767T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.767T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.767T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.767T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.767T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|9/18|c.767T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|8/18|c.767T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|7/18|c.767T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|6/18|c.767T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.740T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.740T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.740T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.740T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.740T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.740T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.740T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.740T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.740T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.740T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.740T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.740T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.740T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.740T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.740T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.740T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.740T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|9/18|c.740T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|8/18|c.740T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|7/18|c.740T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|6/18|c.740T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|9/19|c.740T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|8/19|c.740T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|7/19|c.740T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|6/19|c.740T>A||||||,T|upstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000429068|protein_coding||c.-1T>A|||||4849| 22 37485724 . T C . . ANN=C|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|7/19|c.730A>G|p.Lys244Glu|871/3260|730/2475|244/824||,C|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|7/18|c.757A>G|p.Lys253Glu|874/3194|757/2436|253/811||,C|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|7/18|c.730A>G|p.Lys244Glu|802/3122|730/2409|244/802||,C|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|7/19|c.730A>G|p.Lys244Glu|792/3178|730/2475|244/824||,C|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|7/10|c.757A>G|p.Lys253Glu|874/1695|757/1386|253/461||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.757A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.757A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.757A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.757A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.757A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.757A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.757A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.757A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.757A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.757A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.757A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.757A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.757A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.757A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.757A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.757A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.757A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|9/18|c.757A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|8/18|c.757A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|7/18|c.757A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|6/18|c.757A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.730A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.730A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.730A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.730A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.730A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.730A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.730A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.730A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.730A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.730A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.730A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.730A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.730A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.730A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.730A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.730A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.730A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|9/18|c.730A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|8/18|c.730A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|7/18|c.730A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|6/18|c.730A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|9/19|c.730A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|8/19|c.730A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|7/19|c.730A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|6/19|c.730A>G||||||,C|upstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000429068|protein_coding||c.-1A>G|||||4859| 22 37485821 . A G . . ANN=G|splice_region_variant&synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|7/19|c.633T>C|p.Gly211Gly|774/3260|633/2475|211/824||,G|splice_region_variant&synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|7/18|c.660T>C|p.Gly220Gly|777/3194|660/2436|220/811||,G|splice_region_variant&synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|7/18|c.633T>C|p.Gly211Gly|705/3122|633/2409|211/802||,G|splice_region_variant&synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|7/19|c.633T>C|p.Gly211Gly|695/3178|633/2475|211/824||,G|splice_region_variant&synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|7/10|c.660T>C|p.Gly220Gly|777/1695|660/1386|220/461||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.660T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.660T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.660T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.660T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.660T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.660T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.660T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.660T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.660T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.660T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.660T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.660T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.660T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.660T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.660T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.660T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.660T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|9/18|c.660T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|8/18|c.660T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|7/18|c.660T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|6/18|c.660T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.633T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.633T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.633T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.633T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.633T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.633T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.633T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.633T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.633T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.633T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.633T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.633T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.633T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.633T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.633T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.633T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.633T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|9/18|c.633T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|8/18|c.633T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|7/18|c.633T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|6/18|c.633T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|9/19|c.633T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|8/19|c.633T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|7/19|c.633T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|6/19|c.633T>C||||||,G|upstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000429068|protein_coding||c.-1T>C|||||4956| 22 37491545 . T C . . ANN=C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.658+46A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.658+46A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.658+46A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.658+46A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.658+46A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.658+46A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.658+46A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.658+46A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.658+46A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.658+46A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.658+46A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.658+46A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.658+46A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.658+46A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.658+46A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.658+46A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.658+46A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|9/18|c.658+46A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|8/18|c.658+46A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|7/18|c.658+46A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|6/18|c.658+46A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.631+46A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.631+46A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.631+46A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.631+46A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.631+46A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.631+46A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.631+46A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.631+46A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.631+46A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.631+46A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.631+46A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.631+46A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.631+46A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.631+46A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.631+46A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.631+46A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.631+46A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|9/18|c.631+46A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|8/18|c.631+46A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|7/18|c.631+46A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|6/18|c.631+46A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|9/19|c.631+46A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|8/19|c.631+46A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|7/19|c.631+46A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|6/19|c.631+46A>G||||||,C|downstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000423761|protein_coding||c.*526A>G|||||565|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|6/18|c.631+46A>G||||||,C|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|6/17|c.658+46A>G||||||,C|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|6/17|c.631+46A>G||||||,C|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|6/18|c.631+46A>G||||||,C|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|6/9|c.658+46A>G|||||| 22 37491546 . G A . . ANN=A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.658+45C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.658+45C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.658+45C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.658+45C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.658+45C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.658+45C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.658+45C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.658+45C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.658+45C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.658+45C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.658+45C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.658+45C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.658+45C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.658+45C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.658+45C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.658+45C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.658+45C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|9/18|c.658+45C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|8/18|c.658+45C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|7/18|c.658+45C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|6/18|c.658+45C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.631+45C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.631+45C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.631+45C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.631+45C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.631+45C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.631+45C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.631+45C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.631+45C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.631+45C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.631+45C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.631+45C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.631+45C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.631+45C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.631+45C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.631+45C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.631+45C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.631+45C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|9/18|c.631+45C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|8/18|c.631+45C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|7/18|c.631+45C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|6/18|c.631+45C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|9/19|c.631+45C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|8/19|c.631+45C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|7/19|c.631+45C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|6/19|c.631+45C>T||||||,A|downstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000423761|protein_coding||c.*526C>T|||||564|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|6/18|c.631+45C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|6/17|c.658+45C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|6/17|c.631+45C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|6/18|c.631+45C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|6/9|c.658+45C>T|||||| 22 37491573 . GA G,GAA . . ANN=|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.658+17delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.658+17delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.658+17delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.658+17delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.658+17delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.658+17delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.658+17delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.658+17delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.658+17delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.658+17delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.658+17delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.658+17delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.658+17delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.658+17delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.658+17delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.658+17delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.658+17delT||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.658+16dupT||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.658+16dupT||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.658+16dupT||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.658+16dupT||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.658+16dupT||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.658+16dupT||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.658+16dupT||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.658+16dupT||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.658+16dupT||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.658+16dupT||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.658+16dupT||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.658+16dupT||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.658+16dupT||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.658+16dupT||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.658+16dupT||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.658+16dupT||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.658+16dupT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|9/18|c.658+17delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|8/18|c.658+17delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|7/18|c.658+17delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|6/18|c.658+17delT||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|9/18|c.658+16dupT||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|8/18|c.658+16dupT||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|7/18|c.658+16dupT||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|6/18|c.658+16dupT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.631+17delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.631+17delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.631+17delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.631+17delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.631+17delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.631+17delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.631+17delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.631+17delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.631+17delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.631+17delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.631+17delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.631+17delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.631+17delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.631+17delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.631+17delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.631+17delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.631+17delT||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.631+16dupT||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.631+16dupT||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.631+16dupT||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.631+16dupT||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.631+16dupT||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.631+16dupT||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.631+16dupT||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.631+16dupT||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.631+16dupT||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.631+16dupT||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.631+16dupT||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.631+16dupT||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.631+16dupT||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.631+16dupT||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.631+16dupT||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.631+16dupT||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.631+16dupT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|9/18|c.631+17delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|8/18|c.631+17delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|7/18|c.631+17delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|6/18|c.631+17delT||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|9/18|c.631+16dupT||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|8/18|c.631+16dupT||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|7/18|c.631+16dupT||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|6/18|c.631+16dupT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|9/19|c.631+17delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|8/19|c.631+17delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|7/19|c.631+17delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|6/19|c.631+17delT||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|9/19|c.631+16dupT||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|8/19|c.631+16dupT||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|7/19|c.631+16dupT||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|6/19|c.631+16dupT||||||,|downstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000423761|protein_coding||c.*526delT|||||536|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000423761|protein_coding||c.*526dupT|||||535|WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|6/18|c.631+17delT||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|6/18|c.631+16dupT||||||,|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|6/17|c.658+17delT||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|6/17|c.658+16dupT||||||,|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|6/17|c.631+17delT||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|6/17|c.631+16dupT||||||,|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|6/18|c.631+17delT||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|6/18|c.631+16dupT||||||,|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|6/9|c.658+17delT||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|6/9|c.658+16dupT|||||| 22 37491655 . CAAAT C . . ANN=|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.617-27_617-24delATTT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.617-27_617-24delATTT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.617-27_617-24delATTT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.617-27_617-24delATTT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.617-27_617-24delATTT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.617-27_617-24delATTT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.617-27_617-24delATTT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.617-27_617-24delATTT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.617-27_617-24delATTT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.617-27_617-24delATTT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.617-27_617-24delATTT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.617-27_617-24delATTT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.617-27_617-24delATTT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.617-27_617-24delATTT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.617-27_617-24delATTT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.617-27_617-24delATTT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.617-27_617-24delATTT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|3/18|c.617-27_617-24delATTT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|4/18|c.617-27_617-24delATTT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|5/18|c.617-27_617-24delATTT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|6/18|c.617-27_617-24delATTT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.590-27_590-24delATTT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.590-27_590-24delATTT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.590-27_590-24delATTT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.590-27_590-24delATTT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.590-27_590-24delATTT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.590-27_590-24delATTT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.590-27_590-24delATTT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.590-27_590-24delATTT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.590-27_590-24delATTT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.590-27_590-24delATTT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.590-27_590-24delATTT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.590-27_590-24delATTT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.590-27_590-24delATTT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.590-27_590-24delATTT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.590-27_590-24delATTT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.590-27_590-24delATTT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.590-27_590-24delATTT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|3/18|c.590-27_590-24delATTT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|4/18|c.590-27_590-24delATTT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|5/18|c.590-27_590-24delATTT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|6/18|c.590-27_590-24delATTT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|3/19|c.590-27_590-24delATTT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|4/19|c.590-27_590-24delATTT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|5/19|c.590-27_590-24delATTT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|6/19|c.590-27_590-24delATTT||||||,|downstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000423761|protein_coding||c.*526_*526delATTT|||||454|WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|5/18|c.590-27_590-24delATTT||||||,|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|5/17|c.617-27_617-24delATTT||||||,|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|5/17|c.590-27_590-24delATTT||||||,|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|5/18|c.590-27_590-24delATTT||||||,|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|5/9|c.617-27_617-24delATTT|||||| 22 37491924 . C T . . ANN=T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.616+22G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.616+22G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.616+22G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.616+22G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.616+22G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.616+22G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.616+22G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.616+22G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.616+22G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.616+22G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.616+22G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.616+22G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.616+22G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.616+22G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.616+22G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.616+22G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.616+22G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|3/18|c.616+22G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|4/18|c.616+22G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|5/18|c.616+22G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|6/18|c.616+22G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.589+22G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.589+22G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.589+22G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.589+22G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.589+22G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.589+22G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.589+22G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.589+22G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.589+22G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.589+22G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.589+22G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.589+22G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.589+22G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.589+22G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.589+22G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.589+22G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.589+22G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|3/18|c.589+22G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|4/18|c.589+22G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|5/18|c.589+22G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|6/18|c.589+22G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|3/19|c.589+22G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|4/19|c.589+22G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|5/19|c.589+22G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|6/19|c.589+22G>A||||||,T|downstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000423761|protein_coding||c.*526G>A|||||186|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|5/18|c.589+22G>A||||||,T|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|5/17|c.616+22G>A||||||,T|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|5/17|c.589+22G>A||||||,T|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|5/18|c.589+22G>A||||||,T|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|5/9|c.616+22G>A|||||| 22 37491956 . T G . . ANN=G|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|5/19|c.579A>C|p.Leu193Leu|720/3260|579/2475|193/824||,G|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|5/18|c.606A>C|p.Leu202Leu|723/3194|606/2436|202/811||,G|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|5/18|c.579A>C|p.Leu193Leu|651/3122|579/2409|193/802||,G|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|5/19|c.579A>C|p.Leu193Leu|641/3178|579/2475|193/824||,G|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|5/10|c.606A>C|p.Leu202Leu|723/1695|606/1386|202/461||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.606A>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.606A>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.606A>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.606A>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.606A>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.606A>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.606A>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.606A>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.606A>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.606A>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.606A>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.606A>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.606A>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.606A>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.606A>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.606A>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.606A>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|3/18|c.606A>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|4/18|c.606A>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|5/18|c.606A>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|6/18|c.606A>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.579A>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.579A>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.579A>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.579A>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.579A>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.579A>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.579A>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.579A>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.579A>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.579A>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.579A>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.579A>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.579A>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.579A>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.579A>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.579A>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.579A>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|3/18|c.579A>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|4/18|c.579A>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|5/18|c.579A>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|6/18|c.579A>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|3/19|c.579A>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|4/19|c.579A>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|5/19|c.579A>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|6/19|c.579A>C||||||,G|downstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000423761|protein_coding||c.*526A>C|||||154|WARNING_TRANSCRIPT_INCOMPLETE 22 37491989 . G A . . ANN=A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|5/19|c.546C>T|p.Tyr182Tyr|687/3260|546/2475|182/824||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|5/18|c.573C>T|p.Tyr191Tyr|690/3194|573/2436|191/811||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|5/18|c.546C>T|p.Tyr182Tyr|618/3122|546/2409|182/802||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|5/19|c.546C>T|p.Tyr182Tyr|608/3178|546/2475|182/824||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|5/10|c.573C>T|p.Tyr191Tyr|690/1695|573/1386|191/461||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.573C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.573C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.573C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.573C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.573C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.573C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.573C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.573C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.573C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.573C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.573C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.573C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.573C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.573C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.573C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.573C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.573C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|3/18|c.573C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|4/18|c.573C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|5/18|c.573C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|6/18|c.573C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.546C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.546C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.546C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.546C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.546C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.546C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.546C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.546C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.546C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.546C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.546C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.546C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.546C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.546C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.546C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.546C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.546C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|3/18|c.546C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|4/18|c.546C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|5/18|c.546C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|6/18|c.546C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|3/19|c.546C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|4/19|c.546C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|5/19|c.546C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|6/19|c.546C>T||||||,A|downstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000423761|protein_coding||c.*526C>T|||||121|WARNING_TRANSCRIPT_INCOMPLETE 22 37491998 . G A . . ANN=A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|5/19|c.537C>T|p.Ala179Ala|678/3260|537/2475|179/824||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|5/18|c.564C>T|p.Ala188Ala|681/3194|564/2436|188/811||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|5/18|c.537C>T|p.Ala179Ala|609/3122|537/2409|179/802||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|5/19|c.537C>T|p.Ala179Ala|599/3178|537/2475|179/824||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|5/10|c.564C>T|p.Ala188Ala|681/1695|564/1386|188/461||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.564C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.564C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.564C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.564C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.564C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.564C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.564C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.564C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.564C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.564C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.564C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.564C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.564C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.564C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.564C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.564C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.564C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|3/18|c.564C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|4/18|c.564C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|5/18|c.564C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|6/18|c.564C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.537C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.537C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.537C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.537C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.537C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.537C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.537C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.537C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.537C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.537C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.537C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.537C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.537C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.537C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.537C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.537C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.537C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|3/18|c.537C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|4/18|c.537C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|5/18|c.537C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|6/18|c.537C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|3/19|c.537C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|4/19|c.537C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|5/19|c.537C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|6/19|c.537C>T||||||,A|downstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000423761|protein_coding||c.*526C>T|||||112|WARNING_TRANSCRIPT_INCOMPLETE 22 37492005 . G A . . ANN=A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|5/19|c.530C>T|p.Ser177Leu|671/3260|530/2475|177/824||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|5/18|c.557C>T|p.Ser186Leu|674/3194|557/2436|186/811||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|5/18|c.530C>T|p.Ser177Leu|602/3122|530/2409|177/802||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|5/19|c.530C>T|p.Ser177Leu|592/3178|530/2475|177/824||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|5/10|c.557C>T|p.Ser186Leu|674/1695|557/1386|186/461||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.557C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.557C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.557C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.557C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.557C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.557C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.557C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.557C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.557C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.557C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.557C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.557C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.557C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.557C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.557C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.557C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.557C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|3/18|c.557C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|4/18|c.557C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|5/18|c.557C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|6/18|c.557C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.530C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.530C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.530C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.530C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.530C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.530C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.530C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.530C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.530C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.530C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.530C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.530C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.530C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.530C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.530C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.530C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.530C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|3/18|c.530C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|4/18|c.530C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|5/18|c.530C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|6/18|c.530C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|3/19|c.530C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|4/19|c.530C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|5/19|c.530C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|6/19|c.530C>T||||||,A|downstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000423761|protein_coding||c.*526C>T|||||105|WARNING_TRANSCRIPT_INCOMPLETE 22 37492013 . G A . . ANN=A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|5/19|c.522C>T|p.Val174Val|663/3260|522/2475|174/824||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|5/18|c.549C>T|p.Val183Val|666/3194|549/2436|183/811||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|5/18|c.522C>T|p.Val174Val|594/3122|522/2409|174/802||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|5/19|c.522C>T|p.Val174Val|584/3178|522/2475|174/824||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|5/10|c.549C>T|p.Val183Val|666/1695|549/1386|183/461||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.549C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.549C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.549C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.549C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.549C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.549C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.549C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.549C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.549C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.549C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.549C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.549C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.549C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.549C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.549C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.549C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.549C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|3/18|c.549C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|4/18|c.549C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|5/18|c.549C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|6/18|c.549C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.522C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.522C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.522C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.522C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.522C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.522C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.522C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.522C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.522C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.522C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.522C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.522C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.522C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.522C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.522C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.522C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.522C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|3/18|c.522C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|4/18|c.522C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|5/18|c.522C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|6/18|c.522C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|3/19|c.522C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|4/19|c.522C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|5/19|c.522C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|6/19|c.522C>T||||||,A|downstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000423761|protein_coding||c.*526C>T|||||97|WARNING_TRANSCRIPT_INCOMPLETE 22 37492031 . C T . . ANN=T|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|5/19|c.504G>A|p.Glu168Glu|645/3260|504/2475|168/824||,T|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|5/18|c.531G>A|p.Glu177Glu|648/3194|531/2436|177/811||,T|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|5/18|c.504G>A|p.Glu168Glu|576/3122|504/2409|168/802||,T|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|5/19|c.504G>A|p.Glu168Glu|566/3178|504/2475|168/824||,T|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|5/10|c.531G>A|p.Glu177Glu|648/1695|531/1386|177/461||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.531G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.531G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.531G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.531G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.531G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.531G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.531G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.531G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.531G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.531G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.531G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.531G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.531G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.531G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.531G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.531G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.531G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|3/18|c.531G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|4/18|c.531G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|5/18|c.531G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|6/18|c.531G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.504G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.504G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.504G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.504G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.504G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.504G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.504G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.504G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.504G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.504G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.504G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.504G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.504G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.504G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.504G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.504G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.504G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|3/18|c.504G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|4/18|c.504G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|5/18|c.504G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|6/18|c.504G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|3/19|c.504G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|4/19|c.504G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|5/19|c.504G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|6/19|c.504G>A||||||,T|downstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000423761|protein_coding||c.*526G>A|||||79|WARNING_TRANSCRIPT_INCOMPLETE 22 37492058 . G A . . ANN=A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|5/19|c.477C>T|p.Pro159Pro|618/3260|477/2475|159/824||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|5/18|c.504C>T|p.Pro168Pro|621/3194|504/2436|168/811||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|5/18|c.477C>T|p.Pro159Pro|549/3122|477/2409|159/802||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|5/19|c.477C>T|p.Pro159Pro|539/3178|477/2475|159/824||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|5/10|c.504C>T|p.Pro168Pro|621/1695|504/1386|168/461||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.504C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.504C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.504C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.504C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.504C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.504C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.504C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.504C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.504C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.504C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.504C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.504C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.504C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.504C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.504C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.504C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.504C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|3/18|c.504C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|4/18|c.504C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|5/18|c.504C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|6/18|c.504C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.477C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.477C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.477C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.477C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.477C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.477C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.477C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.477C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.477C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.477C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.477C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.477C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.477C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.477C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.477C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.477C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.477C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|3/18|c.477C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|4/18|c.477C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|5/18|c.477C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|6/18|c.477C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|3/19|c.477C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|4/19|c.477C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|5/19|c.477C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|6/19|c.477C>T||||||,A|downstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000423761|protein_coding||c.*526C>T|||||52|WARNING_TRANSCRIPT_INCOMPLETE 22 37492078 . G A . . ANN=A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|5/19|c.457C>T|p.Arg153Cys|598/3260|457/2475|153/824||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|5/18|c.484C>T|p.Arg162Cys|601/3194|484/2436|162/811||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|5/18|c.457C>T|p.Arg153Cys|529/3122|457/2409|153/802||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|5/19|c.457C>T|p.Arg153Cys|519/3178|457/2475|153/824||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|5/10|c.484C>T|p.Arg162Cys|601/1695|484/1386|162/461||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.484C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.484C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.484C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.484C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.484C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.484C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.484C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.484C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.484C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.484C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.484C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.484C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.484C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.484C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.484C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.484C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.484C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|3/18|c.484C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|4/18|c.484C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|5/18|c.484C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|6/18|c.484C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.457C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.457C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.457C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.457C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.457C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.457C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.457C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.457C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.457C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.457C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.457C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.457C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.457C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.457C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.457C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.457C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.457C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|3/18|c.457C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|4/18|c.457C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|5/18|c.457C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|6/18|c.457C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|3/19|c.457C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|4/19|c.457C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|5/19|c.457C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|6/19|c.457C>T||||||,A|downstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000423761|protein_coding||c.*526C>T|||||32|WARNING_TRANSCRIPT_INCOMPLETE 22 37492129 . C T . . 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|protein_coding|5/18|c.406G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.406G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.406G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.406G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.406G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.406G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.406G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.406G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|3/18|c.406G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|4/18|c.406G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|5/18|c.406G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|6/18|c.406G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|3/19|c.406G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|4/19|c.406G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|5/19|c.406G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|6/19|c.406G>A|||||| 22 37492137 . C T . . 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22 37492159 . G A . . 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g|12/18|c.405-29C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|3/18|c.405-29C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|4/18|c.405-29C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|5/18|c.405-29C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|6/18|c.405-29C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|3/19|c.405-29C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|4/19|c.405-29C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|5/19|c.405-29C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|6/19|c.405-29C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|4/18|c.405-29C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|4/17|c.432-29C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|4/17|c.405-29C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|4/18|c.405-29C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|4/9|c.432-29C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000423761|protein_coding|3/3|c.405-29C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 37492702 . G A . . ANN=A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|4/19|c.390C>T|p.Ser130Ser|531/3260|390/2475|130/824||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|4/18|c.417C>T|p.Ser139Ser|534/3194|417/2436|139/811||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|4/18|c.390C>T|p.Ser130Ser|462/3122|390/2409|130/802||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|4/19|c.390C>T|p.Ser130Ser|452/3178|390/2475|130/824||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|4/10|c.417C>T|p.Ser139Ser|534/1695|417/1386|139/461||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000423761|protein_coding|3/4|c.390C>T|p.Ser130Ser|491/526|390/425|130/140||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.417C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.417C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.417C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.417C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.417C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.417C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.417C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.417C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.417C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.417C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.417C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.417C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.417C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.417C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.417C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.417C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.417C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|3/18|c.417C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|4/18|c.417C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|5/18|c.417C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|6/18|c.417C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.390C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.390C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.390C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.390C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.390C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.390C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.390C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.390C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.390C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.390C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.390C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.390C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.390C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.390C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.390C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.390C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.390C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|3/18|c.390C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|4/18|c.390C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|5/18|c.390C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|6/18|c.390C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|3/19|c.390C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|4/19|c.390C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|5/19|c.390C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|6/19|c.390C>T|||||| 22 37492787 . C T . . 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22 37494420 . T C . . 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22 37494422 . T C . . 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g|12/18|c.336+34A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|3/18|c.336+34A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|4/18|c.336+34A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|5/18|c.336+34A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|6/18|c.336+34A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|3/19|c.336+34A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|4/19|c.336+34A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|5/19|c.336+34A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|6/19|c.336+34A>G||||||,C|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|3/18|c.336+34A>G||||||,C|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|3/17|c.363+34A>G||||||,C|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|3/17|c.336+34A>G||||||,C|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|3/18|c.336+34A>G||||||,C|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|3/9|c.363+34A>G||||||,C|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000423761|protein_coding|2/3|c.336+34A>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 37494485 . G A . . ANN=A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|3/19|c.307C>T|p.Arg103Cys|448/3260|307/2475|103/824||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|3/18|c.334C>T|p.Arg112Cys|451/3194|334/2436|112/811||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|3/18|c.307C>T|p.Arg103Cys|379/3122|307/2409|103/802||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|3/19|c.307C>T|p.Arg103Cys|369/3178|307/2475|103/824||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|3/10|c.334C>T|p.Arg112Cys|451/1695|334/1386|112/461||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000423761|protein_coding|2/4|c.307C>T|p.Arg103Cys|408/526|307/425|103/140||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.334C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.334C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.334C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.334C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.334C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.334C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.334C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.334C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.334C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.334C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.334C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.334C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.334C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.334C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.334C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.334C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.334C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|3/18|c.334C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|4/18|c.334C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|5/18|c.334C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|6/18|c.334C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.307C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.307C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.307C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.307C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.307C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.307C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.307C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.307C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.307C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.307C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.307C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.307C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.307C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.307C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.307C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.307C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.307C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|3/18|c.307C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|4/18|c.307C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|5/18|c.307C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|6/18|c.307C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|3/19|c.307C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|4/19|c.307C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|5/19|c.307C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|6/19|c.307C>T|||||| 22 37494542 . G A . . ANN=A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|3/19|c.250C>T|p.Arg84Cys|391/3260|250/2475|84/824||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|3/18|c.277C>T|p.Arg93Cys|394/3194|277/2436|93/811||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|3/18|c.250C>T|p.Arg84Cys|322/3122|250/2409|84/802||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|3/19|c.250C>T|p.Arg84Cys|312/3178|250/2475|84/824||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|3/10|c.277C>T|p.Arg93Cys|394/1695|277/1386|93/461||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000423761|protein_coding|2/4|c.250C>T|p.Arg84Cys|351/526|250/425|84/140||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.277C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.277C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.277C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.277C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.277C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.277C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.277C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.277C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.277C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.277C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.277C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.277C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.277C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.277C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.277C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.277C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.277C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|3/18|c.277C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|4/18|c.277C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|5/18|c.277C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|6/18|c.277C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.250C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.250C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.250C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.250C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.250C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.250C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.250C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.250C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.250C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.250C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.250C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.250C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.250C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.250C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.250C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.250C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.250C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|3/18|c.250C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|4/18|c.250C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|5/18|c.250C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|6/18|c.250C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|3/19|c.250C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|4/19|c.250C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|5/19|c.250C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|6/19|c.250C>T|||||| 22 37494580 . G A . . ANN=A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|3/19|c.212C>T|p.Ala71Val|353/3260|212/2475|71/824||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|3/18|c.239C>T|p.Ala80Val|356/3194|239/2436|80/811||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|3/18|c.212C>T|p.Ala71Val|284/3122|212/2409|71/802||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|3/19|c.212C>T|p.Ala71Val|274/3178|212/2475|71/824||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|3/10|c.239C>T|p.Ala80Val|356/1695|239/1386|80/461||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000423761|protein_coding|2/4|c.212C>T|p.Ala71Val|313/526|212/425|71/140||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.239C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.239C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.239C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.239C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.239C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.239C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.239C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.239C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.239C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.239C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.239C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.239C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.239C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.239C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.239C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.239C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.239C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.212C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.212C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.212C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.212C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.212C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.212C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.212C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.212C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.212C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.212C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.212C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.212C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.212C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.212C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.212C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.212C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.212C>T|||||| 22 37494630 . G A . . ANN=A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.230-41C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.230-41C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.230-41C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.230-41C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.230-41C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.230-41C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.230-41C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.230-41C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.230-41C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.230-41C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.230-41C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.230-41C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.230-41C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.230-41C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.230-41C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.230-41C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.230-41C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.203-41C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.203-41C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.203-41C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.203-41C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.203-41C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.203-41C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.203-41C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.203-41C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.203-41C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.203-41C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.203-41C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.203-41C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.203-41C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.203-41C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.203-41C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.203-41C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.203-41C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|2/18|c.203-41C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|2/17|c.230-41C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|2/17|c.203-41C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|2/18|c.203-41C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|2/9|c.230-41C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000423761|protein_coding|1/3|c.203-41C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 37499235 . CA C . . ANN=|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.229+20delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.229+20delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.229+20delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.229+20delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.229+20delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.229+20delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.229+20delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.229+20delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.229+20delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.229+20delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.229+20delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.229+20delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.229+20delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.229+20delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.229+20delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.229+20delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.229+20delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.202+20delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.202+20delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.202+20delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.202+20delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.202+20delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.202+20delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.202+20delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.202+20delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.202+20delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.202+20delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.202+20delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.202+20delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.202+20delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.202+20delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.202+20delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.202+20delT||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.202+20delT||||||,|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|2/18|c.202+20delT||||||,|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|2/17|c.229+20delT||||||,|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|2/17|c.202+20delT||||||,|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|2/18|c.202+20delT||||||,|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|2/9|c.229+20delT||||||,|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000423761|protein_coding|1/3|c.202+20delT||||||WARNING_TRANSCRIPT_INCOMPLETE 22 37499239 . C T . . ANN=T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.229+17G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.229+17G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.229+17G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.229+17G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.229+17G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.229+17G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.229+17G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.229+17G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.229+17G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.229+17G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.229+17G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.229+17G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.229+17G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.229+17G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.229+17G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.229+17G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.229+17G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.202+17G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.202+17G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.202+17G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.202+17G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.202+17G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.202+17G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.202+17G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.202+17G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.202+17G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.202+17G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.202+17G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.202+17G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.202+17G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.202+17G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.202+17G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.202+17G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.202+17G>A||||||,T|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|2/18|c.202+17G>A||||||,T|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|2/17|c.229+17G>A||||||,T|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|2/17|c.202+17G>A||||||,T|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|2/18|c.202+17G>A||||||,T|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|2/9|c.229+17G>A||||||,T|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000423761|protein_coding|1/3|c.202+17G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 37499275 . C T . . ANN=T|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|2/19|c.183G>A|p.Val61Val|324/3260|183/2475|61/824||,T|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|2/18|c.210G>A|p.Val70Val|327/3194|210/2436|70/811||,T|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|2/18|c.183G>A|p.Val61Val|255/3122|183/2409|61/802||,T|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|2/19|c.183G>A|p.Val61Val|245/3178|183/2475|61/824||,T|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|2/10|c.210G>A|p.Val70Val|327/1695|210/1386|70/461||,T|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000423761|protein_coding|1/4|c.183G>A|p.Val61Val|284/526|183/425|61/140||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|transmembrane_region:Transmembrane_region|ENST00000346753|protein_coding|2/18|c.210G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|transmembrane_region:Transmembrane_region|ENST00000406725|protein_coding|2/18|c.183G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|transmembrane_region:Transmembrane_region|ENST00000406856|protein_coding|2/19|c.183G>A|||||| 22 37499386 . C T . . ANN=T|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|2/19|c.72G>A|p.Pro24Pro|213/3260|72/2475|24/824||,T|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|2/18|c.99G>A|p.Pro33Pro|216/3194|99/2436|33/811||,T|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|2/18|c.72G>A|p.Pro24Pro|144/3122|72/2409|24/802||,T|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|2/19|c.72G>A|p.Pro24Pro|134/3178|72/2475|24/824||,T|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|2/10|c.99G>A|p.Pro33Pro|216/1695|99/1386|33/461||,T|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000423761|protein_coding|1/4|c.72G>A|p.Pro24Pro|173/526|72/425|24/140||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Cytoplasmic|ENST00000346753|protein_coding|2/18|c.99G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Cytoplasmic|ENST00000346753|protein_coding|1/18|c.99G>A|||||| 22 37499401 . G A . . ANN=A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|2/19|c.57C>T|p.Gly19Gly|198/3260|57/2475|19/824||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|2/18|c.84C>T|p.Gly28Gly|201/3194|84/2436|28/811||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|2/18|c.57C>T|p.Gly19Gly|129/3122|57/2409|19/802||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|2/19|c.57C>T|p.Gly19Gly|119/3178|57/2475|19/824||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|2/10|c.84C>T|p.Gly28Gly|201/1695|84/1386|28/461||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000423761|protein_coding|1/4|c.57C>T|p.Gly19Gly|158/526|57/425|19/140||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Cytoplasmic|ENST00000346753|protein_coding|2/18|c.84C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Cytoplasmic|ENST00000346753|protein_coding|1/18|c.84C>T|||||| 22 37499413 . G A . . ANN=A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|2/19|c.45C>T|p.Asp15Asp|186/3260|45/2475|15/824||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|2/18|c.72C>T|p.Asp24Asp|189/3194|72/2436|24/811||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|2/18|c.45C>T|p.Asp15Asp|117/3122|45/2409|15/802||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|2/19|c.45C>T|p.Asp15Asp|107/3178|45/2475|15/824||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|2/10|c.72C>T|p.Asp24Asp|189/1695|72/1386|24/461||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000423761|protein_coding|1/4|c.45C>T|p.Asp15Asp|146/526|45/425|15/140||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Cytoplasmic|ENST00000346753|protein_coding|2/18|c.72C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Cytoplasmic|ENST00000346753|protein_coding|1/18|c.72C>T|||||| 22 37499454 . GC G . . ANN=|frameshift_variant&start_lost|HIGH|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|2/19|c.3delG|p.Met1fs|144/3260|3/2475|1/824||,|frameshift_variant|HIGH|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|2/18|c.30delG|p.Met10fs|147/3194|30/2436|10/811||,|frameshift_variant&start_lost|HIGH|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|2/18|c.3delG|p.Met1fs|75/3122|3/2409|1/802||,|frameshift_variant&start_lost|HIGH|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|2/19|c.3delG|p.Met1fs|65/3178|3/2475|1/824||,|frameshift_variant|HIGH|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|2/10|c.30delG|p.Met10fs|147/1695|30/1386|10/461||,|frameshift_variant&start_lost|HIGH|TMPRSS6|ENSG00000187045|transcript|ENST00000423761|protein_coding|1/4|c.3delG|p.Met1fs|104/526|3/425|1/140||WARNING_TRANSCRIPT_INCOMPLETE,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Cytoplasmic|ENST00000346753|protein_coding|2/18|c.30delG||||||,|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Cytoplasmic|ENST00000346753|protein_coding|1/18|c.30delG||||||;LOF=(TMPRSS6|ENSG00000187045|7|0.57) 22 37499471 . C T . . ANN=T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Cytoplasmic|ENST00000346753|protein_coding|2/18|c.27-13G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Cytoplasmic|ENST00000346753|protein_coding|1/18|c.27-13G>A||||||,T|5_prime_UTR_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000423761|protein_coding|1/4|c.-14G>A|||||14|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|1/18|c.-1-13G>A||||||,T|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|1/17|c.27-13G>A||||||,T|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|1/17|c.-1-13G>A||||||,T|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|1/18|c.-1-13G>A||||||,T|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|1/9|c.27-13G>A|||||| 22 37499524 . C T . . ANN=T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Cytoplasmic|ENST00000346753|protein_coding|2/18|c.26+30G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Cytoplasmic|ENST00000346753|protein_coding|1/18|c.26+30G>A||||||,T|5_prime_UTR_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000423761|protein_coding|1/4|c.-67G>A|||||67|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|1/18|c.-2+30G>A||||||,T|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|1/17|c.26+30G>A||||||,T|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|1/17|c.-1-66G>A||||||,T|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|1/18|c.-1-66G>A||||||,T|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|1/9|c.26+30G>A|||||| 22 37499525 . G A . . ANN=A|5_prime_UTR_premature_start_codon_gain_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000423761|protein_coding|1/4|c.-68C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Cytoplasmic|ENST00000346753|protein_coding|2/18|c.26+29C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Cytoplasmic|ENST00000346753|protein_coding|1/18|c.26+29C>T||||||,A|5_prime_UTR_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000423761|protein_coding|1/4|c.-68C>T|||||68|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|1/18|c.-2+29C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|1/17|c.26+29C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|1/17|c.-1-67C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|1/18|c.-1-67C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|1/9|c.26+29C>T|||||| 22 37499565 . G A . . ANN=A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|1/18|c.15C>T|p.Phe5Phe|132/3194|15/2436|5/811||,A|synonymous_variant|LOW|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|1/10|c.15C>T|p.Phe5Phe|132/1695|15/1386|5/461||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Cytoplasmic|ENST00000346753|protein_coding|2/18|c.15C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Cytoplasmic|ENST00000346753|protein_coding|1/18|c.15C>T||||||,A|5_prime_UTR_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|1/19|c.-13C>T|||||108|,A|upstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000423761|protein_coding||c.-102C>T|||||7|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|1/17|c.-1-107C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|1/18|c.-1-107C>T|||||| 22 37499566 . A T . . ANN=T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|1/18|c.14T>A|p.Phe5Tyr|131/3194|14/2436|5/811||,T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|1/10|c.14T>A|p.Phe5Tyr|131/1695|14/1386|5/461||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Cytoplasmic|ENST00000346753|protein_coding|2/18|c.14T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Cytoplasmic|ENST00000346753|protein_coding|1/18|c.14T>A||||||,T|5_prime_UTR_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|1/19|c.-14T>A|||||109|,T|upstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000423761|protein_coding||c.-102T>A|||||8|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|1/17|c.-1-108T>A||||||,T|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|1/18|c.-1-108T>A|||||| 22 37524092 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|10/10|c.*44C>T|||||44|,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000483573|retained_intron||n.*708C>T|||||470| 22 37524245 . G A . . ANN=A|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|10/10|c.1547C>T|p.Pro516Leu|1746/4113|1547/1656|516/551||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|10/10|c.1547C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|9/10|c.1547C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|8/10|c.1547C>T||||||,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000483573|retained_intron||n.*708C>T|||||317| 22 37524286 . G A . . ANN=A|synonymous_variant|LOW|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|10/10|c.1506C>T|p.Asp502Asp|1705/4113|1506/1656|502/551||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|10/10|c.1506C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|9/10|c.1506C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|8/10|c.1506C>T||||||,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000483573|retained_intron||n.*708C>T|||||276| 22 37524364 . G C . . ANN=C|synonymous_variant|LOW|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|10/10|c.1428C>G|p.Thr476Thr|1627/4113|1428/1656|476/551||,C|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|10/10|c.1428C>G||||||,C|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|9/10|c.1428C>G||||||,C|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|8/10|c.1428C>G||||||,C|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000483573|retained_intron||n.*708C>G|||||198| 22 37524365 . G A . . ANN=A|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|10/10|c.1427C>T|p.Thr476Ile|1626/4113|1427/1656|476/551||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|10/10|c.1427C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|9/10|c.1427C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|8/10|c.1427C>T||||||,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000483573|retained_intron||n.*708C>T|||||197| 22 37524387 . G A . . ANN=A|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|10/10|c.1405C>T|p.Pro469Ser|1604/4113|1405/1656|469/551||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|10/10|c.1405C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|9/10|c.1405C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|8/10|c.1405C>T||||||,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000483573|retained_intron||n.*708C>T|||||175| 22 37524388 . G A . . ANN=A|synonymous_variant|LOW|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|10/10|c.1404C>T|p.Asp468Asp|1603/4113|1404/1656|468/551||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|10/10|c.1404C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|9/10|c.1404C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|8/10|c.1404C>T||||||,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000483573|retained_intron||n.*708C>T|||||174| 22 37524433 . C A . . ANN=A|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|10/10|c.1359G>T|p.Glu453Asp|1558/4113|1359/1656|453/551||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|10/10|c.1359G>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|9/10|c.1359G>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|8/10|c.1359G>T||||||,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000483573|retained_intron||n.*708G>T|||||129| 22 37524483 . C T . . ANN=T|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|10/10|c.1309G>A|p.Gly437Ser|1508/4113|1309/1656|437/551||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|10/10|c.1309G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|9/10|c.1309G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|8/10|c.1309G>A||||||,T|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000483573|retained_intron||n.*708G>A|||||79| 22 37524496 . G A . . ANN=A|synonymous_variant|LOW|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|10/10|c.1296C>T|p.Pro432Pro|1495/4113|1296/1656|432/551||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|10/10|c.1296C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|9/10|c.1296C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|8/10|c.1296C>T||||||,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000483573|retained_intron||n.*708C>T|||||66| 22 37524544 . G A . . ANN=A|synonymous_variant|LOW|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|10/10|c.1248C>T|p.Asp416Asp|1447/4113|1248/1656|416/551||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|10/10|c.1248C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|9/10|c.1248C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|8/10|c.1248C>T||||||,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000483573|retained_intron||n.*708C>T|||||18| 22 37524559 . C G . . ANN=G|synonymous_variant|LOW|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|10/10|c.1233G>C|p.Leu411Leu|1432/4113|1233/1656|411/551||,G|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|10/10|c.1233G>C||||||,G|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|9/10|c.1233G>C||||||,G|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|8/10|c.1233G>C||||||,G|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000483573|retained_intron||n.*708G>C|||||3| 22 37524600 . C T . . ANN=T|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|10/10|c.1192G>A|p.Gly398Arg|1391/4113|1192/1656|398/551||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|10/10|c.1192G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|9/10|c.1192G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|8/10|c.1192G>A||||||,T|non_coding_exon_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000483573|retained_intron|4/4|n.670G>A|||||| 22 37524619 . G T . . ANN=T|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|10/10|c.1173C>A|p.Asp391Glu|1372/4113|1173/1656|391/551||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|10/10|c.1173C>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|9/10|c.1173C>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|8/10|c.1173C>A||||||,T|non_coding_exon_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000483573|retained_intron|4/4|n.651C>A|||||| 22 37524640 . G A . . ANN=A|synonymous_variant|LOW|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|10/10|c.1152C>T|p.Tyr384Tyr|1351/4113|1152/1656|384/551||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|10/10|c.1152C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|9/10|c.1152C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|8/10|c.1152C>T||||||,A|non_coding_exon_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000483573|retained_intron|4/4|n.630C>T|||||| 22 37524683 . G A . . ANN=A|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|10/10|c.1109C>T|p.Pro370Leu|1308/4113|1109/1656|370/551||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|10/10|c.1109C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|9/10|c.1109C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|8/10|c.1109C>T||||||,A|non_coding_exon_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000483573|retained_intron|4/4|n.587C>T|||||| 22 37524843 . C T . . ANN=T|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|10/10|c.949G>A|p.Gly317Ser|1148/4113|949/1656|317/551||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|10/10|c.949G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|9/10|c.949G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|8/10|c.949G>A||||||,T|non_coding_exon_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000483573|retained_intron|4/4|n.427G>A|||||| 22 37528548 . G T . . ANN=T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|10/10|c.819-40C>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|9/10|c.819-40C>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|8/10|c.819-40C>A||||||,T|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000453962|protein_coding||c.*660C>A|||||3857|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|8/9|c.819-40C>A||||||,T|intron_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000483573|retained_intron|2/3|n.297-40C>A|||||| 22 37531321 . C T . . ANN=T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|10/10|c.818+47G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|9/10|c.818+47G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|8/10|c.818+47G>A||||||,T|upstream_gene_variant|MODIFIER|AL022314.1|ENSG00000252142|transcript|ENST00000516333|miRNA||n.-1C>T|||||2743|,T|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000453962|protein_coding||c.*660G>A|||||1084|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000429622|protein_coding||c.*569G>A|||||2404|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000461607|retained_intron||n.*563G>A|||||3791|,T|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay||n.*318G>A|||||3862|,T|intron_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|8/9|c.818+47G>A||||||,T|intron_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000483573|retained_intron|2/3|n.296+47G>A|||||| 22 37531375 . C T . . ANN=T|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|8/10|c.811G>A|p.Gly271Arg|1010/4113|811/1656|271/551||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|10/10|c.811G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|9/10|c.811G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|8/10|c.811G>A||||||,T|upstream_gene_variant|MODIFIER|AL022314.1|ENSG00000252142|transcript|ENST00000516333|miRNA||n.-1C>T|||||2689|,T|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000453962|protein_coding||c.*660G>A|||||1030|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000429622|protein_coding||c.*569G>A|||||2350|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000461607|retained_intron||n.*563G>A|||||3737|,T|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay||n.*318G>A|||||3808|,T|non_coding_exon_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000483573|retained_intron|2/4|n.289G>A|||||| 22 37531376 . G A . . ANN=A|synonymous_variant|LOW|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|8/10|c.810C>T|p.Thr270Thr|1009/4113|810/1656|270/551||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|10/10|c.810C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|9/10|c.810C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|8/10|c.810C>T||||||,A|upstream_gene_variant|MODIFIER|AL022314.1|ENSG00000252142|transcript|ENST00000516333|miRNA||n.-1G>A|||||2688|,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000453962|protein_coding||c.*660C>T|||||1029|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000429622|protein_coding||c.*569C>T|||||2349|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000461607|retained_intron||n.*563C>T|||||3736|,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay||n.*318C>T|||||3807|,A|non_coding_exon_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000483573|retained_intron|2/4|n.288C>T|||||| 22 37531379 . G A . . ANN=A|synonymous_variant|LOW|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|8/10|c.807C>T|p.Asn269Asn|1006/4113|807/1656|269/551||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|10/10|c.807C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|9/10|c.807C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|8/10|c.807C>T||||||,A|upstream_gene_variant|MODIFIER|AL022314.1|ENSG00000252142|transcript|ENST00000516333|miRNA||n.-1G>A|||||2685|,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000453962|protein_coding||c.*660C>T|||||1026|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000429622|protein_coding||c.*569C>T|||||2346|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000461607|retained_intron||n.*563C>T|||||3733|,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay||n.*318C>T|||||3804|,A|non_coding_exon_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000483573|retained_intron|2/4|n.285C>T|||||| 22 37531430 . G A . . ANN=A|synonymous_variant|LOW|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|8/10|c.756C>T|p.Ser252Ser|955/4113|756/1656|252/551||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|transmembrane_region:Transmembrane_region|ENST00000216223|protein_coding|8/10|c.756C>T||||||,A|upstream_gene_variant|MODIFIER|AL022314.1|ENSG00000252142|transcript|ENST00000516333|miRNA||n.-1G>A|||||2634|,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000453962|protein_coding||c.*660C>T|||||975|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000429622|protein_coding||c.*569C>T|||||2295|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000461607|retained_intron||n.*563C>T|||||3682|,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay||n.*318C>T|||||3753|,A|non_coding_exon_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000483573|retained_intron|2/4|n.234C>T|||||| 22 37531436 . G A . . ANN=A|synonymous_variant|LOW|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|8/10|c.750C>T|p.Gly250Gly|949/4113|750/1656|250/551||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|transmembrane_region:Transmembrane_region|ENST00000216223|protein_coding|8/10|c.750C>T||||||,A|upstream_gene_variant|MODIFIER|AL022314.1|ENSG00000252142|transcript|ENST00000516333|miRNA||n.-1G>A|||||2628|,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000453962|protein_coding||c.*660C>T|||||969|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000429622|protein_coding||c.*569C>T|||||2289|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000461607|retained_intron||n.*563C>T|||||3676|,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay||n.*318C>T|||||3747|,A|non_coding_exon_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000483573|retained_intron|2/4|n.228C>T|||||| 22 37531521 . G C . . ANN=C|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|2/10|c.704-39C>G||||||,C|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|3/10|c.704-39C>G||||||,C|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|7/10|c.704-39C>G||||||,C|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|4/10|c.704-39C>G||||||,C|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|5/10|c.704-39C>G||||||,C|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|6/10|c.704-39C>G||||||,C|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|8/10|c.704-39C>G||||||,C|upstream_gene_variant|MODIFIER|AL022314.1|ENSG00000252142|transcript|ENST00000516333|miRNA||n.-1G>C|||||2543|,C|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000453962|protein_coding||c.*660C>G|||||884|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000429622|protein_coding||c.*569C>G|||||2204|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000461607|retained_intron||n.*563C>G|||||3591|,C|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay||n.*318C>G|||||3662|,C|intron_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|7/9|c.704-39C>G||||||,C|intron_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000483573|retained_intron|1/3|n.182-39C>G|||||| 22 37532221 . G A . . ANN=A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|2/10|c.703+47C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|3/10|c.703+47C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|7/10|c.703+47C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|4/10|c.703+47C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|5/10|c.703+47C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|6/10|c.703+47C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|8/10|c.703+47C>T||||||,A|upstream_gene_variant|MODIFIER|AL022314.1|ENSG00000252142|transcript|ENST00000516333|miRNA||n.-1G>A|||||1843|,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000453962|protein_coding||c.*660C>T|||||184|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000429622|protein_coding||c.*569C>T|||||1504|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000461607|retained_intron||n.*563C>T|||||2891|,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay||n.*318C>T|||||2962|,A|intron_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|7/9|c.703+47C>T||||||,A|intron_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000483573|retained_intron|1/3|n.181+47C>T|||||| 22 37532255 . C T . . ANN=T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|2/10|c.703+13G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|3/10|c.703+13G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|7/10|c.703+13G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|4/10|c.703+13G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|5/10|c.703+13G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|6/10|c.703+13G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|8/10|c.703+13G>A||||||,T|upstream_gene_variant|MODIFIER|AL022314.1|ENSG00000252142|transcript|ENST00000516333|miRNA||n.-1C>T|||||1809|,T|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000453962|protein_coding||c.*660G>A|||||150|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000429622|protein_coding||c.*569G>A|||||1470|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000461607|retained_intron||n.*563G>A|||||2857|,T|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay||n.*318G>A|||||2928|,T|intron_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|7/9|c.703+13G>A||||||,T|intron_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000483573|retained_intron|1/3|n.181+13G>A|||||| 22 37532381 . G A . . ANN=A|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|7/10|c.590C>T|p.Thr197Met|789/4113|590/1656|197/551||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|2/10|c.590C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|3/10|c.590C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|7/10|c.590C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|4/10|c.590C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|5/10|c.590C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|6/10|c.590C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|8/10|c.590C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|domain:Fibronectin_type-III|ENST00000216223|protein_coding|7/10|c.590C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|domain:Fibronectin_type-III|ENST00000216223|protein_coding|6/10|c.590C>T||||||,A|upstream_gene_variant|MODIFIER|AL022314.1|ENSG00000252142|transcript|ENST00000516333|miRNA||n.-1G>A|||||1683|,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000453962|protein_coding||c.*660C>T|||||24|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000429622|protein_coding||c.*569C>T|||||1344|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000461607|retained_intron||n.*563C>T|||||2731|,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay||n.*318C>T|||||2802|,A|non_coding_exon_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000483573|retained_intron|1/4|n.68C>T|||||| 22 37532441 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|6/9|c.538-8C>T||||||,A|splice_region_variant&intron_variant|LOW|IL2RB|ENSG00000100385|transcript|ENST00000453962|protein_coding|6/6|c.538-8C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|2/10|c.538-8C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|3/10|c.538-8C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|7/10|c.538-8C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|4/10|c.538-8C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|5/10|c.538-8C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|6/10|c.538-8C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|8/10|c.538-8C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|domain:Fibronectin_type-III|ENST00000216223|protein_coding|7/10|c.538-8C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|domain:Fibronectin_type-III|ENST00000216223|protein_coding|6/10|c.538-8C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|helix|ENST00000216223|protein_coding|7/10|c.538-8C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|helix|ENST00000216223|protein_coding|6/10|c.538-8C>T||||||,A|upstream_gene_variant|MODIFIER|AL022314.1|ENSG00000252142|transcript|ENST00000516333|miRNA||n.-1G>A|||||1623|,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000429622|protein_coding||c.*569C>T|||||1284|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000461607|retained_intron||n.*563C>T|||||2671|,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay||n.*318C>T|||||2742|,A|non_coding_exon_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000483573|retained_intron|1/4|n.8C>T|||||| 22 37532445 . A T . . ANN=T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|2/10|c.538-12T>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|3/10|c.538-12T>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|7/10|c.538-12T>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|4/10|c.538-12T>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|5/10|c.538-12T>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|6/10|c.538-12T>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|8/10|c.538-12T>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|domain:Fibronectin_type-III|ENST00000216223|protein_coding|7/10|c.538-12T>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|domain:Fibronectin_type-III|ENST00000216223|protein_coding|6/10|c.538-12T>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|helix|ENST00000216223|protein_coding|7/10|c.538-12T>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|helix|ENST00000216223|protein_coding|6/10|c.538-12T>A||||||,T|upstream_gene_variant|MODIFIER|AL022314.1|ENSG00000252142|transcript|ENST00000516333|miRNA||n.-1A>T|||||1619|,T|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000429622|protein_coding||c.*569T>A|||||1280|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000461607|retained_intron||n.*563T>A|||||2667|,T|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay||n.*318T>A|||||2738|,T|intron_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|6/9|c.538-12T>A||||||,T|intron_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000453962|protein_coding|6/6|c.538-12T>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000483573|retained_intron|1/4|n.4T>A|||||| 22 37533607 . G A . . ANN=A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|2/10|c.537+20C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|3/10|c.537+20C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|7/10|c.537+20C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|4/10|c.537+20C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|5/10|c.537+20C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|6/10|c.537+20C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|8/10|c.537+20C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|domain:Fibronectin_type-III|ENST00000216223|protein_coding|7/10|c.537+20C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|domain:Fibronectin_type-III|ENST00000216223|protein_coding|6/10|c.537+20C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|helix|ENST00000216223|protein_coding|7/10|c.537+20C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|helix|ENST00000216223|protein_coding|6/10|c.537+20C>T||||||,A|upstream_gene_variant|MODIFIER|AL022314.1|ENSG00000252142|transcript|ENST00000516333|miRNA||n.-1G>A|||||457|,A|upstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000483573|retained_intron||n.-1C>T|||||1159|,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000429622|protein_coding||c.*569C>T|||||118|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000461607|retained_intron||n.*563C>T|||||1505|,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay||n.*318C>T|||||1576|,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000445595|protein_coding||c.*587C>T|||||4883|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|6/9|c.537+20C>T||||||,A|intron_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000453962|protein_coding|6/6|c.537+20C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 37533705 . T G . . ANN=G|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|6/10|c.459A>C|p.Glu153Asp|658/4113|459/1656|153/551||,G|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000453962|protein_coding|6/7|c.459A>C|p.Glu153Asp|553/660|459/566|153/187||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|2/10|c.459A>C||||||,G|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|3/10|c.459A>C||||||,G|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|7/10|c.459A>C||||||,G|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|4/10|c.459A>C||||||,G|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|5/10|c.459A>C||||||,G|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|6/10|c.459A>C||||||,G|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|8/10|c.459A>C||||||,G|sequence_feature|LOW|IL2RB|ENSG00000100385|domain:Fibronectin_type-III|ENST00000216223|protein_coding|7/10|c.459A>C||||||,G|sequence_feature|LOW|IL2RB|ENSG00000100385|domain:Fibronectin_type-III|ENST00000216223|protein_coding|6/10|c.459A>C||||||,G|sequence_feature|LOW|IL2RB|ENSG00000100385|beta_strand|ENST00000216223|protein_coding|6/10|c.459A>C||||||,G|upstream_gene_variant|MODIFIER|AL022314.1|ENSG00000252142|transcript|ENST00000516333|miRNA||n.-1T>G|||||359|,G|upstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000483573|retained_intron||n.-1A>C|||||1257|,G|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000429622|protein_coding||c.*569A>C|||||20|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000461607|retained_intron||n.*563A>C|||||1407|,G|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay||n.*318A>C|||||1478|,G|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000445595|protein_coding||c.*587A>C|||||4785|WARNING_TRANSCRIPT_INCOMPLETE 22 37533763 . G A . . ANN=A|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|6/10|c.401C>T|p.Ala134Val|600/4113|401/1656|134/551||,A|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000453962|protein_coding|6/7|c.401C>T|p.Ala134Val|495/660|401/566|134/187||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000429622|protein_coding|6/6|c.401C>T|p.Ala134Val|531/569|401/439|134/145||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|2/10|c.401C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|3/10|c.401C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|7/10|c.401C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|4/10|c.401C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|5/10|c.401C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|6/10|c.401C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|8/10|c.401C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|domain:Fibronectin_type-III|ENST00000216223|protein_coding|7/10|c.401C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|domain:Fibronectin_type-III|ENST00000216223|protein_coding|6/10|c.401C>T||||||,A|upstream_gene_variant|MODIFIER|AL022314.1|ENSG00000252142|transcript|ENST00000516333|miRNA||n.-1G>A|||||301|,A|upstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000483573|retained_intron||n.-1C>T|||||1315|,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000461607|retained_intron||n.*563C>T|||||1349|,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay||n.*318C>T|||||1420|,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000445595|protein_coding||c.*587C>T|||||4727|WARNING_TRANSCRIPT_INCOMPLETE 22 37533783 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|5/9|c.389-8G>A||||||,T|splice_region_variant&intron_variant|LOW|IL2RB|ENSG00000100385|transcript|ENST00000453962|protein_coding|5/6|c.389-8G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|splice_region_variant&intron_variant|LOW|IL2RB|ENSG00000100385|transcript|ENST00000429622|protein_coding|5/5|c.389-8G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|2/10|c.389-8G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|3/10|c.389-8G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|7/10|c.389-8G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|4/10|c.389-8G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|5/10|c.389-8G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|6/10|c.389-8G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|8/10|c.389-8G>A||||||,T|upstream_gene_variant|MODIFIER|AL022314.1|ENSG00000252142|transcript|ENST00000516333|miRNA||n.-1C>T|||||281|,T|upstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000483573|retained_intron||n.-1G>A|||||1335|,T|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000461607|retained_intron||n.*563G>A|||||1329|,T|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay||n.*318G>A|||||1400|,T|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000445595|protein_coding||c.*587G>A|||||4707|WARNING_TRANSCRIPT_INCOMPLETE 22 37533786 . C G . . ANN=G|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|2/10|c.389-11G>C||||||,G|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|3/10|c.389-11G>C||||||,G|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|7/10|c.389-11G>C||||||,G|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|4/10|c.389-11G>C||||||,G|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|5/10|c.389-11G>C||||||,G|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|6/10|c.389-11G>C||||||,G|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|8/10|c.389-11G>C||||||,G|upstream_gene_variant|MODIFIER|AL022314.1|ENSG00000252142|transcript|ENST00000516333|miRNA||n.-1C>G|||||278|,G|upstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000483573|retained_intron||n.-1G>C|||||1338|,G|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000461607|retained_intron||n.*563G>C|||||1326|,G|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay||n.*318G>C|||||1397|,G|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000445595|protein_coding||c.*587G>C|||||4704|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|5/9|c.389-11G>C||||||,G|intron_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000453962|protein_coding|5/6|c.389-11G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000429622|protein_coding|5/5|c.389-11G>C||||||WARNING_TRANSCRIPT_INCOMPLETE 22 37533792 . G A . . ANN=A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|2/10|c.389-17C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|3/10|c.389-17C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|7/10|c.389-17C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|4/10|c.389-17C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|5/10|c.389-17C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|6/10|c.389-17C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|8/10|c.389-17C>T||||||,A|upstream_gene_variant|MODIFIER|AL022314.1|ENSG00000252142|transcript|ENST00000516333|miRNA||n.-1G>A|||||272|,A|upstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000483573|retained_intron||n.-1C>T|||||1344|,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000461607|retained_intron||n.*563C>T|||||1320|,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay||n.*318C>T|||||1391|,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000445595|protein_coding||c.*587C>T|||||4698|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|5/9|c.389-17C>T||||||,A|intron_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000453962|protein_coding|5/6|c.389-17C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000429622|protein_coding|5/5|c.389-17C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 37533795 . G C . . ANN=C|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|2/10|c.389-20C>G||||||,C|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|3/10|c.389-20C>G||||||,C|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|7/10|c.389-20C>G||||||,C|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|4/10|c.389-20C>G||||||,C|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|5/10|c.389-20C>G||||||,C|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|6/10|c.389-20C>G||||||,C|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|8/10|c.389-20C>G||||||,C|upstream_gene_variant|MODIFIER|AL022314.1|ENSG00000252142|transcript|ENST00000516333|miRNA||n.-1G>C|||||269|,C|upstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000483573|retained_intron||n.-1C>G|||||1347|,C|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000461607|retained_intron||n.*563C>G|||||1317|,C|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay||n.*318C>G|||||1388|,C|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000445595|protein_coding||c.*587C>G|||||4695|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|5/9|c.389-20C>G||||||,C|intron_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000453962|protein_coding|5/6|c.389-20C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000429622|protein_coding|5/5|c.389-20C>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 37533823 . C T . . ANN=T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|2/10|c.389-48G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|3/10|c.389-48G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|7/10|c.389-48G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|4/10|c.389-48G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|5/10|c.389-48G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|6/10|c.389-48G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|8/10|c.389-48G>A||||||,T|upstream_gene_variant|MODIFIER|AL022314.1|ENSG00000252142|transcript|ENST00000516333|miRNA||n.-1C>T|||||241|,T|upstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000483573|retained_intron||n.-1G>A|||||1375|,T|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000461607|retained_intron||n.*563G>A|||||1289|,T|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay||n.*318G>A|||||1360|,T|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000445595|protein_coding||c.*587G>A|||||4667|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|5/9|c.389-48G>A||||||,T|intron_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000453962|protein_coding|5/6|c.389-48G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000429622|protein_coding|5/5|c.389-48G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 37535130 . C T . . ANN=T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|2/10|c.388+27G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|3/10|c.388+27G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|7/10|c.388+27G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|4/10|c.388+27G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|5/10|c.388+27G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|6/10|c.388+27G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|8/10|c.388+27G>A||||||,T|upstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000483573|retained_intron||n.-1G>A|||||2682|,T|downstream_gene_variant|MODIFIER|AL022314.1|ENSG00000252142|transcript|ENST00000516333|miRNA||n.*60C>T|||||1007|,T|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay||n.*318G>A|||||53|,T|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000445595|protein_coding||c.*587G>A|||||3360|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|5/9|c.388+27G>A||||||,T|intron_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000453962|protein_coding|5/6|c.388+27G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000429622|protein_coding|5/5|c.388+27G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000461607|retained_intron|5/5|n.545G>A|||||| 22 37535236 . G A . . ANN=A|synonymous_variant|LOW|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|5/10|c.309C>T|p.Ile103Ile|508/4113|309/1656|103/551||,A|synonymous_variant|LOW|IL2RB|ENSG00000100385|transcript|ENST00000453962|protein_coding|5/7|c.309C>T|p.Ile103Ile|403/660|309/566|103/187||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|IL2RB|ENSG00000100385|transcript|ENST00000429622|protein_coding|5/6|c.309C>T|p.Ile103Ile|439/569|309/439|103/145||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|2/10|c.309C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|3/10|c.309C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|7/10|c.309C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|4/10|c.309C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|5/10|c.309C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|6/10|c.309C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|8/10|c.309C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|disulfide_bond|ENST00000216223|protein_coding|3/10|c.309C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|disulfide_bond|ENST00000216223|protein_coding|4/10|c.309C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|disulfide_bond|ENST00000216223|protein_coding|5/10|c.309C>T||||||,A|3_prime_UTR_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay|3/3|n.*128C>T|||||3339|,A|upstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000483573|retained_intron||n.-1C>T|||||2788|,A|downstream_gene_variant|MODIFIER|AL022314.1|ENSG00000252142|transcript|ENST00000516333|miRNA||n.*60G>A|||||1113|,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000445595|protein_coding||c.*587C>T|||||3254|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000461607|retained_intron|5/5|n.439C>T||||||,A|non_coding_exon_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay|3/3|n.*128C>T|||||| 22 37535248 . G A . . ANN=A|synonymous_variant|LOW|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|5/10|c.297C>T|p.Thr99Thr|496/4113|297/1656|99/551||,A|synonymous_variant|LOW|IL2RB|ENSG00000100385|transcript|ENST00000453962|protein_coding|5/7|c.297C>T|p.Thr99Thr|391/660|297/566|99/187||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|IL2RB|ENSG00000100385|transcript|ENST00000429622|protein_coding|5/6|c.297C>T|p.Thr99Thr|427/569|297/439|99/145||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|2/10|c.297C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|3/10|c.297C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|7/10|c.297C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|4/10|c.297C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|5/10|c.297C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|6/10|c.297C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|8/10|c.297C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|disulfide_bond|ENST00000216223|protein_coding|3/10|c.297C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|disulfide_bond|ENST00000216223|protein_coding|4/10|c.297C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|disulfide_bond|ENST00000216223|protein_coding|5/10|c.297C>T||||||,A|3_prime_UTR_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay|3/3|n.*116C>T|||||3327|,A|upstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000483573|retained_intron||n.-1C>T|||||2800|,A|downstream_gene_variant|MODIFIER|AL022314.1|ENSG00000252142|transcript|ENST00000516333|miRNA||n.*60G>A|||||1125|,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000445595|protein_coding||c.*587C>T|||||3242|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000461607|retained_intron|5/5|n.427C>T||||||,A|non_coding_exon_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay|3/3|n.*116C>T|||||| 22 37538508 . G A . . ANN=A|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|4/10|c.248C>T|p.Ser83Phe|447/4113|248/1656|83/551||,A|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000453962|protein_coding|4/7|c.248C>T|p.Ser83Phe|342/660|248/566|83/187||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000429622|protein_coding|4/6|c.248C>T|p.Ser83Phe|378/569|248/439|83/145||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000445595|protein_coding|5/5|c.248C>T|p.Ser83Phe|569/587|248/266|83/87||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|2/10|c.248C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|3/10|c.248C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|7/10|c.248C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|4/10|c.248C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|5/10|c.248C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|6/10|c.248C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|8/10|c.248C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|disulfide_bond|ENST00000216223|protein_coding|3/10|c.248C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|disulfide_bond|ENST00000216223|protein_coding|4/10|c.248C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|disulfide_bond|ENST00000216223|protein_coding|5/10|c.248C>T||||||,A|3_prime_UTR_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay|2/3|n.*67C>T|||||67|,A|downstream_gene_variant|MODIFIER|AL022314.1|ENSG00000252142|transcript|ENST00000516333|miRNA||n.*60G>A|||||4385|,A|non_coding_exon_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000461607|retained_intron|4/5|n.378C>T||||||,A|non_coding_exon_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay|2/3|n.*67C>T|||||| 22 37538521 . C T . . ANN=T|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|4/10|c.235G>A|p.Val79Met|434/4113|235/1656|79/551||,T|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000453962|protein_coding|4/7|c.235G>A|p.Val79Met|329/660|235/566|79/187||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000429622|protein_coding|4/6|c.235G>A|p.Val79Met|365/569|235/439|79/145||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000445595|protein_coding|5/5|c.235G>A|p.Val79Met|556/587|235/266|79/87||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|2/10|c.235G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|3/10|c.235G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|7/10|c.235G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|4/10|c.235G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|5/10|c.235G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|6/10|c.235G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|8/10|c.235G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|disulfide_bond|ENST00000216223|protein_coding|3/10|c.235G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|disulfide_bond|ENST00000216223|protein_coding|4/10|c.235G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|disulfide_bond|ENST00000216223|protein_coding|5/10|c.235G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|beta_strand|ENST00000216223|protein_coding|4/10|c.235G>A||||||,T|3_prime_UTR_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay|2/3|n.*54G>A|||||54|,T|downstream_gene_variant|MODIFIER|AL022314.1|ENSG00000252142|transcript|ENST00000516333|miRNA||n.*60C>T|||||4398|,T|non_coding_exon_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000461607|retained_intron|4/5|n.365G>A||||||,T|non_coding_exon_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay|2/3|n.*54G>A|||||| 22 37538522 . G A . . ANN=A|synonymous_variant|LOW|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|4/10|c.234C>T|p.Pro78Pro|433/4113|234/1656|78/551||,A|synonymous_variant|LOW|IL2RB|ENSG00000100385|transcript|ENST00000453962|protein_coding|4/7|c.234C>T|p.Pro78Pro|328/660|234/566|78/187||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|IL2RB|ENSG00000100385|transcript|ENST00000429622|protein_coding|4/6|c.234C>T|p.Pro78Pro|364/569|234/439|78/145||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|IL2RB|ENSG00000100385|transcript|ENST00000445595|protein_coding|5/5|c.234C>T|p.Pro78Pro|555/587|234/266|78/87||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|2/10|c.234C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|3/10|c.234C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|7/10|c.234C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|4/10|c.234C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|5/10|c.234C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|6/10|c.234C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|8/10|c.234C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|disulfide_bond|ENST00000216223|protein_coding|3/10|c.234C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|disulfide_bond|ENST00000216223|protein_coding|4/10|c.234C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|disulfide_bond|ENST00000216223|protein_coding|5/10|c.234C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|beta_strand|ENST00000216223|protein_coding|4/10|c.234C>T||||||,A|3_prime_UTR_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay|2/3|n.*53C>T|||||53|,A|downstream_gene_variant|MODIFIER|AL022314.1|ENSG00000252142|transcript|ENST00000516333|miRNA||n.*60G>A|||||4399|,A|non_coding_exon_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000461607|retained_intron|4/5|n.364C>T||||||,A|non_coding_exon_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay|2/3|n.*53C>T|||||| 22 37538531 . C G . . ANN=G|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|4/10|c.225G>C|p.Glu75Asp|424/4113|225/1656|75/551||,G|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000453962|protein_coding|4/7|c.225G>C|p.Glu75Asp|319/660|225/566|75/187||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000429622|protein_coding|4/6|c.225G>C|p.Glu75Asp|355/569|225/439|75/145||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000445595|protein_coding|5/5|c.225G>C|p.Glu75Asp|546/587|225/266|75/87||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|2/10|c.225G>C||||||,G|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|3/10|c.225G>C||||||,G|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|7/10|c.225G>C||||||,G|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|4/10|c.225G>C||||||,G|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|5/10|c.225G>C||||||,G|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|6/10|c.225G>C||||||,G|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|8/10|c.225G>C||||||,G|sequence_feature|LOW|IL2RB|ENSG00000100385|disulfide_bond|ENST00000216223|protein_coding|3/10|c.225G>C||||||,G|sequence_feature|LOW|IL2RB|ENSG00000100385|disulfide_bond|ENST00000216223|protein_coding|4/10|c.225G>C||||||,G|sequence_feature|LOW|IL2RB|ENSG00000100385|disulfide_bond|ENST00000216223|protein_coding|5/10|c.225G>C||||||,G|sequence_feature|LOW|IL2RB|ENSG00000100385|beta_strand|ENST00000216223|protein_coding|4/10|c.225G>C||||||,G|3_prime_UTR_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay|2/3|n.*44G>C|||||44|,G|downstream_gene_variant|MODIFIER|AL022314.1|ENSG00000252142|transcript|ENST00000516333|miRNA||n.*60C>G|||||4408|,G|non_coding_exon_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000461607|retained_intron|4/5|n.355G>C||||||,G|non_coding_exon_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay|2/3|n.*44G>C|||||| 22 37538551 . G C . . ANN=C|missense_variant&splice_region_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|4/10|c.205C>G|p.Arg69Gly|404/4113|205/1656|69/551||,C|missense_variant&splice_region_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000453962|protein_coding|4/7|c.205C>G|p.Arg69Gly|299/660|205/566|69/187||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant&splice_region_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000429622|protein_coding|4/6|c.205C>G|p.Arg69Gly|335/569|205/439|69/145||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant&splice_region_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000445595|protein_coding|5/5|c.205C>G|p.Arg69Gly|526/587|205/266|69/87||WARNING_TRANSCRIPT_INCOMPLETE,C|splice_region_variant&non_coding_exon_variant|LOW|IL2RB|ENSG00000100385|transcript|ENST00000461607|retained_intron|4/5|n.335C>G||||||,C|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|2/10|c.205C>G||||||,C|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|3/10|c.205C>G||||||,C|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|7/10|c.205C>G||||||,C|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|4/10|c.205C>G||||||,C|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|5/10|c.205C>G||||||,C|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|6/10|c.205C>G||||||,C|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|8/10|c.205C>G||||||,C|sequence_feature|LOW|IL2RB|ENSG00000100385|disulfide_bond|ENST00000216223|protein_coding|3/10|c.205C>G||||||,C|sequence_feature|LOW|IL2RB|ENSG00000100385|disulfide_bond|ENST00000216223|protein_coding|4/10|c.205C>G||||||,C|sequence_feature|LOW|IL2RB|ENSG00000100385|disulfide_bond|ENST00000216223|protein_coding|5/10|c.205C>G||||||,C|3_prime_UTR_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay|2/3|n.*24C>G|||||24|,C|downstream_gene_variant|MODIFIER|AL022314.1|ENSG00000252142|transcript|ENST00000516333|miRNA||n.*60G>C|||||4428|,C|non_coding_exon_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay|2/3|n.*24C>G|||||| 22 37538565 . A G . . ANN=G|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|2/10|c.204-13T>C||||||,G|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|3/10|c.204-13T>C||||||,G|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|7/10|c.204-13T>C||||||,G|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|4/10|c.204-13T>C||||||,G|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|5/10|c.204-13T>C||||||,G|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|6/10|c.204-13T>C||||||,G|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|8/10|c.204-13T>C||||||,G|sequence_feature|LOW|IL2RB|ENSG00000100385|disulfide_bond|ENST00000216223|protein_coding|3/10|c.204-13T>C||||||,G|sequence_feature|LOW|IL2RB|ENSG00000100385|disulfide_bond|ENST00000216223|protein_coding|4/10|c.204-13T>C||||||,G|sequence_feature|LOW|IL2RB|ENSG00000100385|disulfide_bond|ENST00000216223|protein_coding|5/10|c.204-13T>C||||||,G|3_prime_UTR_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay|2/3|n.*10T>C|||||10|,G|downstream_gene_variant|MODIFIER|AL022314.1|ENSG00000252142|transcript|ENST00000516333|miRNA||n.*60A>G|||||4442|,G|intron_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|3/9|c.204-13T>C||||||,G|intron_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000453962|protein_coding|3/6|c.204-13T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000429622|protein_coding|3/5|c.204-13T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000461607|retained_intron|3/4|n.334-13T>C||||||,G|intron_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000445595|protein_coding|4/4|c.204-13T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay|2/3|n.*10T>C|||||| 22 37539638 . G A . . ANN=A|synonymous_variant|LOW|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|3/10|c.126C>T|p.Ala42Ala|325/4113|126/1656|42/551||,A|synonymous_variant|LOW|IL2RB|ENSG00000100385|transcript|ENST00000453962|protein_coding|3/7|c.126C>T|p.Ala42Ala|220/660|126/566|42/187||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|IL2RB|ENSG00000100385|transcript|ENST00000429622|protein_coding|3/6|c.126C>T|p.Ala42Ala|256/569|126/439|42/145||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|IL2RB|ENSG00000100385|transcript|ENST00000445595|protein_coding|4/5|c.126C>T|p.Ala42Ala|447/587|126/266|42/87||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|2/10|c.126C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|3/10|c.126C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|7/10|c.126C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|4/10|c.126C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|5/10|c.126C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|6/10|c.126C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|8/10|c.126C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|beta_strand|ENST00000216223|protein_coding|3/10|c.126C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|disulfide_bond|ENST00000216223|protein_coding|3/10|c.126C>T||||||,A|non_coding_exon_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000461607|retained_intron|3/5|n.256C>T||||||,A|non_coding_exon_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay|1/3|n.24C>T|||||| 22 37539644 . C T . . ANN=T|synonymous_variant|LOW|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|3/10|c.120G>A|p.Ser40Ser|319/4113|120/1656|40/551||,T|synonymous_variant|LOW|IL2RB|ENSG00000100385|transcript|ENST00000453962|protein_coding|3/7|c.120G>A|p.Ser40Ser|214/660|120/566|40/187||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|IL2RB|ENSG00000100385|transcript|ENST00000429622|protein_coding|3/6|c.120G>A|p.Ser40Ser|250/569|120/439|40/145||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|IL2RB|ENSG00000100385|transcript|ENST00000445595|protein_coding|4/5|c.120G>A|p.Ser40Ser|441/587|120/266|40/87||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|2/10|c.120G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|3/10|c.120G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|7/10|c.120G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|4/10|c.120G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|5/10|c.120G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|6/10|c.120G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|8/10|c.120G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|beta_strand|ENST00000216223|protein_coding|3/10|c.120G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|disulfide_bond|ENST00000216223|protein_coding|3/10|c.120G>A||||||,T|non_coding_exon_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000461607|retained_intron|3/5|n.250G>A||||||,T|non_coding_exon_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay|1/3|n.18G>A|||||| 22 37539709 . T A . . ANN=A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|2/10|c.89-34A>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|3/10|c.89-34A>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|7/10|c.89-34A>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|4/10|c.89-34A>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|5/10|c.89-34A>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|6/10|c.89-34A>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|8/10|c.89-34A>T||||||,A|upstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay||n.-1A>T|||||48|,A|intron_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|2/9|c.89-34A>T||||||,A|intron_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000453962|protein_coding|2/6|c.89-34A>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000429622|protein_coding|2/5|c.89-34A>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000461607|retained_intron|2/4|n.219-34A>T||||||,A|intron_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000445595|protein_coding|3/4|c.89-34A>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 37539713 . T C . . ANN=C|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|2/10|c.89-38A>G||||||,C|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|3/10|c.89-38A>G||||||,C|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|7/10|c.89-38A>G||||||,C|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|4/10|c.89-38A>G||||||,C|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|5/10|c.89-38A>G||||||,C|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|6/10|c.89-38A>G||||||,C|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|8/10|c.89-38A>G||||||,C|upstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay||n.-1A>G|||||52|,C|intron_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|2/9|c.89-38A>G||||||,C|intron_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000453962|protein_coding|2/6|c.89-38A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000429622|protein_coding|2/5|c.89-38A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000461607|retained_intron|2/4|n.219-38A>G||||||,C|intron_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000445595|protein_coding|3/4|c.89-38A>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 37540101 . C T . . ANN=T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|2/10|c.88+24G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|3/10|c.88+24G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|7/10|c.88+24G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|4/10|c.88+24G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|5/10|c.88+24G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|6/10|c.88+24G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|8/10|c.88+24G>A||||||,T|upstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay||n.-1G>A|||||440|,T|intron_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|2/9|c.88+24G>A||||||,T|intron_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000453962|protein_coding|2/6|c.88+24G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000429622|protein_coding|2/5|c.88+24G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000461607|retained_intron|2/4|n.218+24G>A||||||,T|intron_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000445595|protein_coding|3/4|c.88+24G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 37540122 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|2/9|c.88+3G>A||||||,T|splice_region_variant&intron_variant|LOW|IL2RB|ENSG00000100385|transcript|ENST00000453962|protein_coding|2/6|c.88+3G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|splice_region_variant&intron_variant|LOW|IL2RB|ENSG00000100385|transcript|ENST00000429622|protein_coding|2/5|c.88+3G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|splice_region_variant&intron_variant|LOW|IL2RB|ENSG00000100385|transcript|ENST00000461607|retained_intron|2/4|n.218+3G>A||||||,T|splice_region_variant&intron_variant|LOW|IL2RB|ENSG00000100385|transcript|ENST00000445595|protein_coding|3/4|c.88+3G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|2/10|c.88+3G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|3/10|c.88+3G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|7/10|c.88+3G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|4/10|c.88+3G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|5/10|c.88+3G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|6/10|c.88+3G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|8/10|c.88+3G>A||||||,T|upstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay||n.-1G>A|||||461| 22 37540185 . G C . . ANN=C|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|2/10|c.28C>G|p.Leu10Val|227/4113|28/1656|10/551||,C|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000453962|protein_coding|2/7|c.28C>G|p.Leu10Val|122/660|28/566|10/187||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000429622|protein_coding|2/6|c.28C>G|p.Leu10Val|158/569|28/439|10/145||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000445595|protein_coding|3/5|c.28C>G|p.Leu10Val|349/587|28/266|10/87||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|IL2RB|ENSG00000100385|signal_peptide|ENST00000216223|protein_coding|2/10|c.28C>G||||||,C|upstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay||n.-1C>G|||||524|,C|non_coding_exon_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000461607|retained_intron|2/5|n.158C>G|||||| 22 37540187 . C T . . ANN=T|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|2/10|c.26G>A|p.Arg9His|225/4113|26/1656|9/551||,T|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000453962|protein_coding|2/7|c.26G>A|p.Arg9His|120/660|26/566|9/187||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000429622|protein_coding|2/6|c.26G>A|p.Arg9His|156/569|26/439|9/145||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000445595|protein_coding|3/5|c.26G>A|p.Arg9His|347/587|26/266|9/87||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|IL2RB|ENSG00000100385|signal_peptide|ENST00000216223|protein_coding|2/10|c.26G>A||||||,T|upstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay||n.-1G>A|||||526|,T|non_coding_exon_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000461607|retained_intron|2/5|n.156G>A|||||| 22 37540233 . G A . . ANN=A|5_prime_UTR_premature_start_codon_gain_variant|LOW|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|2/10|c.-21C>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|IL2RB|ENSG00000100385|transcript|ENST00000453962|protein_coding|2/7|c.-21C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|IL2RB|ENSG00000100385|transcript|ENST00000429622|protein_coding|2/6|c.-21C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|IL2RB|ENSG00000100385|transcript|ENST00000445595|protein_coding|3/5|c.-21C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|5_prime_UTR_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|2/10|c.-21C>T|||||21|,A|5_prime_UTR_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000453962|protein_coding|2/7|c.-21C>T|||||21|WARNING_TRANSCRIPT_INCOMPLETE,A|5_prime_UTR_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000429622|protein_coding|2/6|c.-21C>T|||||21|WARNING_TRANSCRIPT_INCOMPLETE,A|5_prime_UTR_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000445595|protein_coding|3/5|c.-21C>T|||||21|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay||n.-1C>T|||||572|,A|non_coding_exon_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000461607|retained_intron|2/5|n.110C>T|||||| 22 37578180 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000337843|protein_coding|3/3|c.*48G>A|||||48|,T|3_prime_UTR_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000255836|protein_coding|2/2|c.*48G>A|||||48|,T|downstream_gene_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay||n.*374G>A|||||34|,T|intron_variant|MODIFIER|RP1-151B14.6|ENSG00000235237|transcript|ENST00000419128|antisense|1/1|n.209-289C>T||||||,T|intron_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000397110|protein_coding|3/3|c.*36+12G>A||||||,T|intron_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000470655|processed_transcript|8/8|n.4302+12G>A||||||,T|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000493023|retained_intron|2/2|n.1327G>A|||||| 22 37578207 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000337843|protein_coding|3/3|c.*21C>T|||||21|,A|3_prime_UTR_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000397110|protein_coding|3/4|c.*21C>T|||||21|,A|3_prime_UTR_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000255836|protein_coding|2/2|c.*21C>T|||||21|,A|downstream_gene_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay||n.*374C>T|||||7|,A|intron_variant|MODIFIER|RP1-151B14.6|ENSG00000235237|transcript|ENST00000419128|antisense|1/1|n.209-262G>A||||||,A|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000470655|processed_transcript|8/9|n.4287C>T||||||,A|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000493023|retained_intron|2/2|n.1300C>T|||||| 22 37578214 . T C . . ANN=C|splice_region_variant&non_coding_exon_variant|LOW|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|4/4|n.*601A>G||||||,C|3_prime_UTR_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000337843|protein_coding|3/3|c.*14A>G|||||14|,C|3_prime_UTR_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000397110|protein_coding|3/4|c.*14A>G|||||14|,C|3_prime_UTR_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000255836|protein_coding|2/2|c.*14A>G|||||14|,C|3_prime_UTR_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|4/4|n.*601A>G|||||2202|,C|intron_variant|MODIFIER|RP1-151B14.6|ENSG00000235237|transcript|ENST00000419128|antisense|1/1|n.209-255T>C||||||,C|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000470655|processed_transcript|8/9|n.4280A>G||||||,C|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000493023|retained_intron|2/2|n.1293A>G|||||| 22 37578337 . C T . . ANN=T|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000337843|protein_coding|3/3|c.728G>A|p.Arg243His|804/2934|728/837|243/278||,T|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000397110|protein_coding|3/4|c.728G>A|p.Arg243His|801/1647|728/837|243/278||,T|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000255836|protein_coding|2/2|c.356G>A|p.Arg119His|356/563|356/465|119/154||,T|sequence_feature|LOW|C1QTNF6|ENSG00000133466|domain:C1q|ENST00000397110|protein_coding|3/4|c.728G>A||||||,T|3_prime_UTR_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|4/4|n.*478G>A|||||2079|,T|intron_variant|MODIFIER|RP1-151B14.6|ENSG00000235237|transcript|ENST00000419128|antisense|1/1|n.209-132C>T||||||,T|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000470655|processed_transcript|8/9|n.4157G>A||||||,T|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000493023|retained_intron|2/2|n.1170G>A||||||,T|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|4/4|n.*478G>A|||||| 22 37578345 . G A . . ANN=A|synonymous_variant|LOW|C1QTNF6|ENSG00000133466|transcript|ENST00000337843|protein_coding|3/3|c.720C>T|p.Tyr240Tyr|796/2934|720/837|240/278||,A|synonymous_variant|LOW|C1QTNF6|ENSG00000133466|transcript|ENST00000397110|protein_coding|3/4|c.720C>T|p.Tyr240Tyr|793/1647|720/837|240/278||,A|synonymous_variant|LOW|C1QTNF6|ENSG00000133466|transcript|ENST00000255836|protein_coding|2/2|c.348C>T|p.Tyr116Tyr|348/563|348/465|116/154||,A|sequence_feature|LOW|C1QTNF6|ENSG00000133466|domain:C1q|ENST00000397110|protein_coding|3/4|c.720C>T||||||,A|3_prime_UTR_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|4/4|n.*470C>T|||||2071|,A|intron_variant|MODIFIER|RP1-151B14.6|ENSG00000235237|transcript|ENST00000419128|antisense|1/1|n.209-124G>A||||||,A|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000470655|processed_transcript|8/9|n.4149C>T||||||,A|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000493023|retained_intron|2/2|n.1162C>T||||||,A|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|4/4|n.*470C>T|||||| 22 37578388 . C T . . ANN=T|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000337843|protein_coding|3/3|c.677G>A|p.Arg226His|753/2934|677/837|226/278||,T|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000397110|protein_coding|3/4|c.677G>A|p.Arg226His|750/1647|677/837|226/278||,T|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000255836|protein_coding|2/2|c.305G>A|p.Arg102His|305/563|305/465|102/154||,T|sequence_feature|LOW|C1QTNF6|ENSG00000133466|domain:C1q|ENST00000397110|protein_coding|3/4|c.677G>A||||||,T|3_prime_UTR_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|4/4|n.*427G>A|||||2028|,T|intron_variant|MODIFIER|RP1-151B14.6|ENSG00000235237|transcript|ENST00000419128|antisense|1/1|n.209-81C>T||||||,T|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000470655|processed_transcript|8/9|n.4106G>A||||||,T|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000493023|retained_intron|2/2|n.1119G>A||||||,T|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|4/4|n.*427G>A|||||| 22 37578403 . G A . . ANN=A|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000337843|protein_coding|3/3|c.662C>T|p.Ala221Val|738/2934|662/837|221/278||,A|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000397110|protein_coding|3/4|c.662C>T|p.Ala221Val|735/1647|662/837|221/278||,A|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000255836|protein_coding|2/2|c.290C>T|p.Ala97Val|290/563|290/465|97/154||,A|sequence_feature|LOW|C1QTNF6|ENSG00000133466|domain:C1q|ENST00000397110|protein_coding|3/4|c.662C>T||||||,A|3_prime_UTR_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|4/4|n.*412C>T|||||2013|,A|intron_variant|MODIFIER|RP1-151B14.6|ENSG00000235237|transcript|ENST00000419128|antisense|1/1|n.209-66G>A||||||,A|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000470655|processed_transcript|8/9|n.4091C>T||||||,A|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000493023|retained_intron|2/2|n.1104C>T||||||,A|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|4/4|n.*412C>T|||||| 22 37578419 . C A . . ANN=A|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000337843|protein_coding|3/3|c.646G>T|p.Ala216Ser|722/2934|646/837|216/278||,A|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000397110|protein_coding|3/4|c.646G>T|p.Ala216Ser|719/1647|646/837|216/278||,A|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000255836|protein_coding|2/2|c.274G>T|p.Ala92Ser|274/563|274/465|92/154||,A|sequence_feature|LOW|C1QTNF6|ENSG00000133466|domain:C1q|ENST00000397110|protein_coding|3/4|c.646G>T||||||,A|3_prime_UTR_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|4/4|n.*396G>T|||||1997|,A|intron_variant|MODIFIER|RP1-151B14.6|ENSG00000235237|transcript|ENST00000419128|antisense|1/1|n.209-50C>A||||||,A|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000470655|processed_transcript|8/9|n.4075G>T||||||,A|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000493023|retained_intron|2/2|n.1088G>T||||||,A|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|4/4|n.*396G>T|||||| 22 37578447 . G A . . ANN=A|synonymous_variant|LOW|C1QTNF6|ENSG00000133466|transcript|ENST00000337843|protein_coding|3/3|c.618C>T|p.Tyr206Tyr|694/2934|618/837|206/278||,A|synonymous_variant|LOW|C1QTNF6|ENSG00000133466|transcript|ENST00000397110|protein_coding|3/4|c.618C>T|p.Tyr206Tyr|691/1647|618/837|206/278||,A|synonymous_variant|LOW|C1QTNF6|ENSG00000133466|transcript|ENST00000255836|protein_coding|2/2|c.246C>T|p.Tyr82Tyr|246/563|246/465|82/154||,A|sequence_feature|LOW|C1QTNF6|ENSG00000133466|domain:C1q|ENST00000397110|protein_coding|3/4|c.618C>T||||||,A|3_prime_UTR_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|4/4|n.*368C>T|||||1969|,A|intron_variant|MODIFIER|RP1-151B14.6|ENSG00000235237|transcript|ENST00000419128|antisense|1/1|n.209-22G>A||||||,A|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000470655|processed_transcript|8/9|n.4047C>T||||||,A|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000493023|retained_intron|2/2|n.1060C>T||||||,A|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|4/4|n.*368C>T|||||| 22 37578471 . G T . . ANN=T|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000337843|protein_coding|3/3|c.594C>A|p.His198Gln|670/2934|594/837|198/278||,T|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000397110|protein_coding|3/4|c.594C>A|p.His198Gln|667/1647|594/837|198/278||,T|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000255836|protein_coding|2/2|c.222C>A|p.His74Gln|222/563|222/465|74/154||,T|splice_region_variant&non_coding_exon_variant|LOW|RP1-151B14.6|ENSG00000235237|transcript|ENST00000419128|antisense|2/2|n.211G>T||||||,T|sequence_feature|LOW|C1QTNF6|ENSG00000133466|domain:C1q|ENST00000397110|protein_coding|3/4|c.594C>A||||||,T|3_prime_UTR_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|4/4|n.*344C>A|||||1945|,T|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000470655|processed_transcript|8/9|n.4023C>A||||||,T|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000493023|retained_intron|2/2|n.1036C>A||||||,T|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|4/4|n.*344C>A|||||| 22 37578488 . A C . . ANN=C|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000337843|protein_coding|3/3|c.577T>G|p.Phe193Val|653/2934|577/837|193/278||,C|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000397110|protein_coding|3/4|c.577T>G|p.Phe193Val|650/1647|577/837|193/278||,C|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000255836|protein_coding|2/2|c.205T>G|p.Phe69Val|205/563|205/465|69/154||,C|sequence_feature|LOW|C1QTNF6|ENSG00000133466|domain:C1q|ENST00000397110|protein_coding|3/4|c.577T>G||||||,C|3_prime_UTR_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|4/4|n.*327T>G|||||1928|,C|non_coding_exon_variant|MODIFIER|RP1-151B14.6|ENSG00000235237|transcript|ENST00000419128|antisense|2/2|n.228A>C||||||,C|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000470655|processed_transcript|8/9|n.4006T>G||||||,C|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000493023|retained_intron|2/2|n.1019T>G||||||,C|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|4/4|n.*327T>G|||||| 22 37578502 . C T . . ANN=T|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000337843|protein_coding|3/3|c.563G>A|p.Arg188His|639/2934|563/837|188/278||,T|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000397110|protein_coding|3/4|c.563G>A|p.Arg188His|636/1647|563/837|188/278||,T|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000255836|protein_coding|2/2|c.191G>A|p.Arg64His|191/563|191/465|64/154||,T|sequence_feature|LOW|C1QTNF6|ENSG00000133466|domain:C1q|ENST00000397110|protein_coding|3/4|c.563G>A||||||,T|3_prime_UTR_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|4/4|n.*313G>A|||||1914|,T|non_coding_exon_variant|MODIFIER|RP1-151B14.6|ENSG00000235237|transcript|ENST00000419128|antisense|2/2|n.242C>T||||||,T|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000470655|processed_transcript|8/9|n.3992G>A||||||,T|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000493023|retained_intron|2/2|n.1005G>A||||||,T|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|4/4|n.*313G>A|||||| 22 37578570 . G A . . ANN=A|synonymous_variant|LOW|C1QTNF6|ENSG00000133466|transcript|ENST00000337843|protein_coding|3/3|c.495C>T|p.Phe165Phe|571/2934|495/837|165/278||,A|synonymous_variant|LOW|C1QTNF6|ENSG00000133466|transcript|ENST00000397110|protein_coding|3/4|c.495C>T|p.Phe165Phe|568/1647|495/837|165/278||,A|synonymous_variant|LOW|C1QTNF6|ENSG00000133466|transcript|ENST00000255836|protein_coding|2/2|c.123C>T|p.Phe41Phe|123/563|123/465|41/154||,A|sequence_feature|LOW|C1QTNF6|ENSG00000133466|domain:C1q|ENST00000397110|protein_coding|3/4|c.495C>T||||||,A|3_prime_UTR_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|4/4|n.*245C>T|||||1846|,A|non_coding_exon_variant|MODIFIER|RP1-151B14.6|ENSG00000235237|transcript|ENST00000419128|antisense|2/2|n.310G>A||||||,A|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000470655|processed_transcript|8/9|n.3924C>T||||||,A|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000493023|retained_intron|2/2|n.937C>T||||||,A|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|4/4|n.*245C>T|||||| 22 37578579 . C T . . ANN=T|synonymous_variant|LOW|C1QTNF6|ENSG00000133466|transcript|ENST00000337843|protein_coding|3/3|c.486G>A|p.Thr162Thr|562/2934|486/837|162/278||,T|synonymous_variant|LOW|C1QTNF6|ENSG00000133466|transcript|ENST00000397110|protein_coding|3/4|c.486G>A|p.Thr162Thr|559/1647|486/837|162/278||,T|synonymous_variant|LOW|C1QTNF6|ENSG00000133466|transcript|ENST00000255836|protein_coding|2/2|c.114G>A|p.Thr38Thr|114/563|114/465|38/154||,T|sequence_feature|LOW|C1QTNF6|ENSG00000133466|domain:C1q|ENST00000397110|protein_coding|3/4|c.486G>A||||||,T|3_prime_UTR_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|4/4|n.*236G>A|||||1837|,T|non_coding_exon_variant|MODIFIER|RP1-151B14.6|ENSG00000235237|transcript|ENST00000419128|antisense|2/2|n.319C>T||||||,T|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000470655|processed_transcript|8/9|n.3915G>A||||||,T|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000493023|retained_intron|2/2|n.928G>A||||||,T|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|4/4|n.*236G>A|||||| 22 37578633 . G A . . ANN=A|synonymous_variant|LOW|C1QTNF6|ENSG00000133466|transcript|ENST00000337843|protein_coding|3/3|c.432C>T|p.Phe144Phe|508/2934|432/837|144/278||,A|synonymous_variant|LOW|C1QTNF6|ENSG00000133466|transcript|ENST00000397110|protein_coding|3/4|c.432C>T|p.Phe144Phe|505/1647|432/837|144/278||,A|sequence_feature|LOW|C1QTNF6|ENSG00000133466|domain:C1q|ENST00000397110|protein_coding|3/4|c.432C>T||||||,A|3_prime_UTR_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|4/4|n.*182C>T|||||1783|,A|intron_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000470655|processed_transcript|7/8|n.3872-11C>T||||||,A|intron_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000255836|protein_coding|1/1|c.71-11C>T||||||,A|non_coding_exon_variant|MODIFIER|RP1-151B14.6|ENSG00000235237|transcript|ENST00000419128|antisense|2/2|n.373G>A||||||,A|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000493023|retained_intron|2/2|n.874C>T||||||,A|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|4/4|n.*182C>T|||||| 22 37578652 . G A . . ANN=A|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000337843|protein_coding|3/3|c.413C>T|p.Pro138Leu|489/2934|413/837|138/278||,A|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000397110|protein_coding|3/4|c.413C>T|p.Pro138Leu|486/1647|413/837|138/278||,A|sequence_feature|LOW|C1QTNF6|ENSG00000133466|domain:Collagen-like|ENST00000397110|protein_coding|2/4|c.413C>T||||||,A|sequence_feature|LOW|C1QTNF6|ENSG00000133466|domain:Collagen-like|ENST00000397110|protein_coding|3/4|c.413C>T||||||,A|3_prime_UTR_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|4/4|n.*163C>T|||||1764|,A|intron_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000470655|processed_transcript|7/8|n.3872-30C>T||||||,A|intron_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000255836|protein_coding|1/1|c.71-30C>T||||||,A|non_coding_exon_variant|MODIFIER|RP1-151B14.6|ENSG00000235237|transcript|ENST00000419128|antisense|2/2|n.392G>A||||||,A|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000493023|retained_intron|2/2|n.855C>T||||||,A|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|4/4|n.*163C>T|||||| 22 37578681 . G A . . ANN=A|synonymous_variant|LOW|C1QTNF6|ENSG00000133466|transcript|ENST00000337843|protein_coding|3/3|c.384C>T|p.Asp128Asp|460/2934|384/837|128/278||,A|synonymous_variant|LOW|C1QTNF6|ENSG00000133466|transcript|ENST00000397110|protein_coding|3/4|c.384C>T|p.Asp128Asp|457/1647|384/837|128/278||,A|sequence_feature|LOW|C1QTNF6|ENSG00000133466|domain:Collagen-like|ENST00000397110|protein_coding|2/4|c.384C>T||||||,A|sequence_feature|LOW|C1QTNF6|ENSG00000133466|domain:Collagen-like|ENST00000397110|protein_coding|3/4|c.384C>T||||||,A|3_prime_UTR_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|4/4|n.*134C>T|||||1735|,A|intron_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000470655|processed_transcript|7/8|n.3872-59C>T||||||,A|intron_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000255836|protein_coding|1/1|c.71-59C>T||||||,A|non_coding_exon_variant|MODIFIER|RP1-151B14.6|ENSG00000235237|transcript|ENST00000419128|antisense|2/2|n.421G>A||||||,A|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000493023|retained_intron|2/2|n.826C>T||||||,A|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|4/4|n.*134C>T|||||| 22 37578807 . G A . . ANN=A|synonymous_variant|LOW|C1QTNF6|ENSG00000133466|transcript|ENST00000255836|protein_coding|1/2|c.39C>T|p.Ser13Ser|39/563|39/465|13/154||,A|sequence_feature|LOW|C1QTNF6|ENSG00000133466|domain:Collagen-like|ENST00000397110|protein_coding|2/4|c.290-32C>T||||||,A|sequence_feature|LOW|C1QTNF6|ENSG00000133466|domain:Collagen-like|ENST00000397110|protein_coding|3/4|c.290-32C>T||||||,A|intron_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000337843|protein_coding|2/2|c.290-32C>T||||||,A|intron_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000397110|protein_coding|2/3|c.290-32C>T||||||,A|intron_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000493023|retained_intron|1/1|n.732-32C>T||||||,A|intron_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|3/3|n.*40-32C>T||||||,A|non_coding_exon_variant|MODIFIER|RP1-151B14.6|ENSG00000235237|transcript|ENST00000419128|antisense|2/2|n.547G>A||||||,A|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000470655|processed_transcript|7/9|n.3840C>T|||||| 22 37581243 . C T . . ANN=T|sequence_feature|LOW|C1QTNF6|ENSG00000133466|domain:Collagen-like|ENST00000397110|protein_coding|2/4|c.289+15G>A||||||,T|sequence_feature|LOW|C1QTNF6|ENSG00000133466|domain:Collagen-like|ENST00000397110|protein_coding|3/4|c.289+15G>A||||||,T|upstream_gene_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000255836|protein_coding||c.-1G>A|||||2398|,T|downstream_gene_variant|MODIFIER|RP1-151B14.6|ENSG00000235237|transcript|ENST00000419128|antisense||n.*630C>T|||||2353|,T|intron_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000337843|protein_coding|2/2|c.289+15G>A||||||,T|intron_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000397110|protein_coding|2/3|c.289+15G>A||||||,T|intron_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000470655|processed_transcript|6/8|n.3779+15G>A||||||,T|intron_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000493023|retained_intron|1/1|n.731+15G>A||||||,T|intron_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|2/3|n.289+15G>A|||||| 22 37581271 . G A . . ANN=A|synonymous_variant|LOW|C1QTNF6|ENSG00000133466|transcript|ENST00000337843|protein_coding|2/3|c.276C>T|p.Ile92Ile|352/2934|276/837|92/278||,A|synonymous_variant|LOW|C1QTNF6|ENSG00000133466|transcript|ENST00000397110|protein_coding|2/4|c.276C>T|p.Ile92Ile|349/1647|276/837|92/278||,A|upstream_gene_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000255836|protein_coding||c.-1C>T|||||2426|,A|downstream_gene_variant|MODIFIER|RP1-151B14.6|ENSG00000235237|transcript|ENST00000419128|antisense||n.*630G>A|||||2381|,A|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000470655|processed_transcript|6/9|n.3766C>T||||||,A|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000493023|retained_intron|1/2|n.718C>T||||||,A|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|2/4|n.276C>T|||||| 22 37581353 . G C . . ANN=C|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000337843|protein_coding|2/3|c.194C>G|p.Pro65Arg|270/2934|194/837|65/278||,C|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000397110|protein_coding|2/4|c.194C>G|p.Pro65Arg|267/1647|194/837|65/278||,C|upstream_gene_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000255836|protein_coding||c.-1C>G|||||2508|,C|downstream_gene_variant|MODIFIER|RP1-151B14.6|ENSG00000235237|transcript|ENST00000419128|antisense||n.*630G>C|||||2463|,C|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000470655|processed_transcript|6/9|n.3684C>G||||||,C|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000493023|retained_intron|1/2|n.636C>G||||||,C|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|2/4|n.194C>G|||||| 22 37581383 . C T . . ANN=T|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000337843|protein_coding|2/3|c.164G>A|p.Gly55Asp|240/2934|164/837|55/278||,T|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000397110|protein_coding|2/4|c.164G>A|p.Gly55Asp|237/1647|164/837|55/278||,T|upstream_gene_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000255836|protein_coding||c.-1G>A|||||2538|,T|downstream_gene_variant|MODIFIER|RP1-151B14.6|ENSG00000235237|transcript|ENST00000419128|antisense||n.*630C>T|||||2493|,T|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000470655|processed_transcript|6/9|n.3654G>A||||||,T|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000493023|retained_intron|1/2|n.606G>A||||||,T|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|2/4|n.164G>A|||||| 22 37581420 . T C . . ANN=C|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000337843|protein_coding|2/3|c.127A>G|p.Met43Val|203/2934|127/837|43/278||,C|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000397110|protein_coding|2/4|c.127A>G|p.Met43Val|200/1647|127/837|43/278||,C|upstream_gene_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000255836|protein_coding||c.-1A>G|||||2575|,C|downstream_gene_variant|MODIFIER|RP1-151B14.6|ENSG00000235237|transcript|ENST00000419128|antisense||n.*630T>C|||||2530|,C|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000470655|processed_transcript|6/9|n.3617A>G||||||,C|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000493023|retained_intron|1/2|n.569A>G||||||,C|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|2/4|n.127A>G|||||| 22 37581422 . G C . . ANN=C|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000337843|protein_coding|2/3|c.125C>G|p.Pro42Arg|201/2934|125/837|42/278||,C|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000397110|protein_coding|2/4|c.125C>G|p.Pro42Arg|198/1647|125/837|42/278||,C|upstream_gene_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000255836|protein_coding||c.-1C>G|||||2577|,C|downstream_gene_variant|MODIFIER|RP1-151B14.6|ENSG00000235237|transcript|ENST00000419128|antisense||n.*630G>C|||||2532|,C|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000470655|processed_transcript|6/9|n.3615C>G||||||,C|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000493023|retained_intron|1/2|n.567C>G||||||,C|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|2/4|n.125C>G|||||| 22 37581455 . G A . . ANN=A|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000337843|protein_coding|2/3|c.92C>T|p.Ala31Val|168/2934|92/837|31/278||,A|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000397110|protein_coding|2/4|c.92C>T|p.Ala31Val|165/1647|92/837|31/278||,A|upstream_gene_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000255836|protein_coding||c.-1C>T|||||2610|,A|downstream_gene_variant|MODIFIER|RP1-151B14.6|ENSG00000235237|transcript|ENST00000419128|antisense||n.*630G>A|||||2565|,A|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000470655|processed_transcript|6/9|n.3582C>T||||||,A|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000493023|retained_intron|1/2|n.534C>T||||||,A|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|2/4|n.92C>T|||||| 22 37581457 . T C . . ANN=C|synonymous_variant|LOW|C1QTNF6|ENSG00000133466|transcript|ENST00000337843|protein_coding|2/3|c.90A>G|p.Ala30Ala|166/2934|90/837|30/278||,C|synonymous_variant|LOW|C1QTNF6|ENSG00000133466|transcript|ENST00000397110|protein_coding|2/4|c.90A>G|p.Ala30Ala|163/1647|90/837|30/278||,C|upstream_gene_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000255836|protein_coding||c.-1A>G|||||2612|,C|downstream_gene_variant|MODIFIER|RP1-151B14.6|ENSG00000235237|transcript|ENST00000419128|antisense||n.*630T>C|||||2567|,C|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000470655|processed_transcript|6/9|n.3580A>G||||||,C|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000493023|retained_intron|1/2|n.532A>G||||||,C|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|2/4|n.90A>G|||||| 22 37581477 . C T . . ANN=T|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000337843|protein_coding|2/3|c.70G>A|p.Ala24Thr|146/2934|70/837|24/278||,T|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000397110|protein_coding|2/4|c.70G>A|p.Ala24Thr|143/1647|70/837|24/278||,T|upstream_gene_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000255836|protein_coding||c.-1G>A|||||2632|,T|downstream_gene_variant|MODIFIER|RP1-151B14.6|ENSG00000235237|transcript|ENST00000419128|antisense||n.*630C>T|||||2587|,T|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000470655|processed_transcript|6/9|n.3560G>A||||||,T|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000493023|retained_intron|1/2|n.512G>A||||||,T|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|2/4|n.70G>A|||||| 22 37581478 . G A . . ANN=A|synonymous_variant|LOW|C1QTNF6|ENSG00000133466|transcript|ENST00000337843|protein_coding|2/3|c.69C>T|p.Ala23Ala|145/2934|69/837|23/278||,A|synonymous_variant|LOW|C1QTNF6|ENSG00000133466|transcript|ENST00000397110|protein_coding|2/4|c.69C>T|p.Ala23Ala|142/1647|69/837|23/278||,A|upstream_gene_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000255836|protein_coding||c.-1C>T|||||2633|,A|downstream_gene_variant|MODIFIER|RP1-151B14.6|ENSG00000235237|transcript|ENST00000419128|antisense||n.*630G>A|||||2588|,A|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000470655|processed_transcript|6/9|n.3559C>T||||||,A|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000493023|retained_intron|1/2|n.511C>T||||||,A|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|2/4|n.69C>T|||||| 22 37581485 . C A . . ANN=A|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000337843|protein_coding|2/3|c.62G>T|p.Gly21Val|138/2934|62/837|21/278||,A|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000397110|protein_coding|2/4|c.62G>T|p.Gly21Val|135/1647|62/837|21/278||,A|upstream_gene_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000255836|protein_coding||c.-1G>T|||||2640|,A|downstream_gene_variant|MODIFIER|RP1-151B14.6|ENSG00000235237|transcript|ENST00000419128|antisense||n.*630C>A|||||2595|,A|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000470655|processed_transcript|6/9|n.3552G>T||||||,A|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000493023|retained_intron|1/2|n.504G>T||||||,A|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|2/4|n.62G>T|||||| 22 37581538 . A G . . ANN=G|upstream_gene_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000255836|protein_coding||c.-1T>C|||||2693|,G|downstream_gene_variant|MODIFIER|RP1-151B14.6|ENSG00000235237|transcript|ENST00000419128|antisense||n.*630A>G|||||2648|,G|intron_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000337843|protein_coding|1/2|c.52-43T>C||||||,G|intron_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000397110|protein_coding|1/3|c.52-43T>C||||||,G|intron_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000470655|processed_transcript|5/8|n.3542-43T>C||||||,G|intron_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|1/3|n.52-43T>C||||||,G|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000493023|retained_intron|1/2|n.451T>C|||||| 22 37584228 . G A . . ANN=A|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000337843|protein_coding|1/3|c.26C>T|p.Ser9Leu|102/2934|26/837|9/278||,A|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000397110|protein_coding|1/4|c.26C>T|p.Ser9Leu|99/1647|26/837|9/278||,A|upstream_gene_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000493023|retained_intron||n.-1C>T|||||2240|,A|downstream_gene_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000467564|processed_transcript||n.*479C>T|||||2365|,A|downstream_gene_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000497071|processed_transcript||n.*688C>T|||||2365|,A|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000470655|processed_transcript|4/9|n.3340C>T||||||,A|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|1/4|n.26C>T|||||| 22 37602543 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|SSTR3|ENSG00000183473|transcript|ENST00000328544|protein_coding|2/2|c.*43C>T|||||43|,A|3_prime_UTR_variant|MODIFIER|SSTR3|ENSG00000183473|transcript|ENST00000402501|protein_coding|2/2|c.*43C>T|||||43| 22 37602581 . A AG . . ANN=G|3_prime_UTR_variant|MODIFIER|SSTR3|ENSG00000183473|transcript|ENST00000328544|protein_coding|2/2|c.*4dupC|||||4|,G|3_prime_UTR_variant|MODIFIER|SSTR3|ENSG00000183473|transcript|ENST00000402501|protein_coding|2/2|c.*4dupC|||||4| 22 37602583 . G GC . . ANN=C|3_prime_UTR_variant|MODIFIER|SSTR3|ENSG00000183473|transcript|ENST00000328544|protein_coding|2/2|c.*2dupG|||||2|,C|3_prime_UTR_variant|MODIFIER|SSTR3|ENSG00000183473|transcript|ENST00000402501|protein_coding|2/2|c.*2dupG|||||2| 22 37602584 . C CA,CT . . ANN=A|3_prime_UTR_variant|MODIFIER|SSTR3|ENSG00000183473|transcript|ENST00000328544|protein_coding|2/2|c.*1_*2insT|||||1|,T|3_prime_UTR_variant|MODIFIER|SSTR3|ENSG00000183473|transcript|ENST00000328544|protein_coding|2/2|c.*1_*2insA|||||1|,A|3_prime_UTR_variant|MODIFIER|SSTR3|ENSG00000183473|transcript|ENST00000402501|protein_coding|2/2|c.*1_*2insT|||||1|,T|3_prime_UTR_variant|MODIFIER|SSTR3|ENSG00000183473|transcript|ENST00000402501|protein_coding|2/2|c.*1_*2insA|||||1| 22 37602585 . C CA . . ANN=A|frameshift_variant|HIGH|SSTR3|ENSG00000183473|transcript|ENST00000328544|protein_coding|2/2|c.1257_*1insT||1791/4099|1257/1257|419/418||,A|frameshift_variant|HIGH|SSTR3|ENSG00000183473|transcript|ENST00000402501|protein_coding|2/2|c.1257_*1insT||1714/1780|1257/1257|419/418|| 22 37602586 . C CA . . ANN=A|frameshift_variant&stop_lost|HIGH|SSTR3|ENSG00000183473|transcript|ENST00000328544|protein_coding|2/2|c.1256_1257insT|p.Ter419fs|1790/4099|1256/1257|419/418||,A|frameshift_variant&stop_lost|HIGH|SSTR3|ENSG00000183473|transcript|ENST00000402501|protein_coding|2/2|c.1256_1257insT|p.Ter419fs|1713/1780|1256/1257|419/418|| 22 37602602 . C T . . ANN=T|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000328544|protein_coding|2/2|c.1241G>A|p.Arg414His|1775/4099|1241/1257|414/418||,T|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000402501|protein_coding|2/2|c.1241G>A|p.Arg414His|1698/1780|1241/1257|414/418||,T|sequence_feature|LOW|SSTR3|ENSG00000183473|topological_domain:Cytoplasmic|ENST00000402501|protein_coding|2/2|c.1241G>A|||||| 22 37602611 . C G . . ANN=G|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000328544|protein_coding|2/2|c.1232G>C|p.Ser411Thr|1766/4099|1232/1257|411/418||,G|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000402501|protein_coding|2/2|c.1232G>C|p.Ser411Thr|1689/1780|1232/1257|411/418||,G|sequence_feature|LOW|SSTR3|ENSG00000183473|topological_domain:Cytoplasmic|ENST00000402501|protein_coding|2/2|c.1232G>C|||||| 22 37602682 . C T . . ANN=T|synonymous_variant|LOW|SSTR3|ENSG00000183473|transcript|ENST00000328544|protein_coding|2/2|c.1161G>A|p.Arg387Arg|1695/4099|1161/1257|387/418||,T|synonymous_variant|LOW|SSTR3|ENSG00000183473|transcript|ENST00000402501|protein_coding|2/2|c.1161G>A|p.Arg387Arg|1618/1780|1161/1257|387/418||,T|sequence_feature|LOW|SSTR3|ENSG00000183473|topological_domain:Cytoplasmic|ENST00000402501|protein_coding|2/2|c.1161G>A|||||| 22 37602754 . C T . . ANN=T|synonymous_variant|LOW|SSTR3|ENSG00000183473|transcript|ENST00000328544|protein_coding|2/2|c.1089G>A|p.Glu363Glu|1623/4099|1089/1257|363/418||,T|synonymous_variant|LOW|SSTR3|ENSG00000183473|transcript|ENST00000402501|protein_coding|2/2|c.1089G>A|p.Glu363Glu|1546/1780|1089/1257|363/418||,T|sequence_feature|LOW|SSTR3|ENSG00000183473|topological_domain:Cytoplasmic|ENST00000402501|protein_coding|2/2|c.1089G>A|||||| 22 37602779 . T C . . ANN=C|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000328544|protein_coding|2/2|c.1064A>G|p.Glu355Gly|1598/4099|1064/1257|355/418||,C|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000402501|protein_coding|2/2|c.1064A>G|p.Glu355Gly|1521/1780|1064/1257|355/418||,C|sequence_feature|LOW|SSTR3|ENSG00000183473|topological_domain:Cytoplasmic|ENST00000402501|protein_coding|2/2|c.1064A>G||||||,C|sequence_feature|LOW|SSTR3|ENSG00000183473|compositionally_biased_region:Glu-rich__acidic_|ENST00000402501|protein_coding|2/2|c.1064A>G|||||| 22 37602809 . G A . . ANN=A|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000328544|protein_coding|2/2|c.1034C>T|p.Pro345Leu|1568/4099|1034/1257|345/418||,A|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000402501|protein_coding|2/2|c.1034C>T|p.Pro345Leu|1491/1780|1034/1257|345/418||,A|sequence_feature|LOW|SSTR3|ENSG00000183473|topological_domain:Cytoplasmic|ENST00000402501|protein_coding|2/2|c.1034C>T|||||| 22 37602822 . T C . . ANN=C|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000328544|protein_coding|2/2|c.1021A>G|p.Thr341Ala|1555/4099|1021/1257|341/418||,C|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000402501|protein_coding|2/2|c.1021A>G|p.Thr341Ala|1478/1780|1021/1257|341/418||,C|sequence_feature|LOW|SSTR3|ENSG00000183473|topological_domain:Cytoplasmic|ENST00000402501|protein_coding|2/2|c.1021A>G|||||| 22 37602837 . G A . . ANN=A|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000328544|protein_coding|2/2|c.1006C>T|p.Arg336Cys|1540/4099|1006/1257|336/418||,A|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000402501|protein_coding|2/2|c.1006C>T|p.Arg336Cys|1463/1780|1006/1257|336/418||,A|sequence_feature|LOW|SSTR3|ENSG00000183473|topological_domain:Cytoplasmic|ENST00000402501|protein_coding|2/2|c.1006C>T|||||| 22 37602850 . G C . . ANN=C|synonymous_variant|LOW|SSTR3|ENSG00000183473|transcript|ENST00000328544|protein_coding|2/2|c.993C>G|p.Pro331Pro|1527/4099|993/1257|331/418||,C|synonymous_variant|LOW|SSTR3|ENSG00000183473|transcript|ENST00000402501|protein_coding|2/2|c.993C>G|p.Pro331Pro|1450/1780|993/1257|331/418||,C|sequence_feature|LOW|SSTR3|ENSG00000183473|topological_domain:Cytoplasmic|ENST00000402501|protein_coding|2/2|c.993C>G|||||| 22 37602984 . C T . . ANN=T|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000328544|protein_coding|2/2|c.859G>A|p.Glu287Lys|1393/4099|859/1257|287/418||,T|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000402501|protein_coding|2/2|c.859G>A|p.Glu287Lys|1316/1780|859/1257|287/418||,T|sequence_feature|LOW|SSTR3|ENSG00000183473|topological_domain:Extracellular|ENST00000402501|protein_coding|2/2|c.859G>A|||||| 22 37602985 . G A . . ANN=A|synonymous_variant|LOW|SSTR3|ENSG00000183473|transcript|ENST00000328544|protein_coding|2/2|c.858C>T|p.Pro286Pro|1392/4099|858/1257|286/418||,A|synonymous_variant|LOW|SSTR3|ENSG00000183473|transcript|ENST00000402501|protein_coding|2/2|c.858C>T|p.Pro286Pro|1315/1780|858/1257|286/418||,A|sequence_feature|LOW|SSTR3|ENSG00000183473|topological_domain:Extracellular|ENST00000402501|protein_coding|2/2|c.858C>T|||||| 22 37603021 . G A . . ANN=A|synonymous_variant|LOW|SSTR3|ENSG00000183473|transcript|ENST00000328544|protein_coding|2/2|c.822C>T|p.Tyr274Tyr|1356/4099|822/1257|274/418||,A|synonymous_variant|LOW|SSTR3|ENSG00000183473|transcript|ENST00000402501|protein_coding|2/2|c.822C>T|p.Tyr274Tyr|1279/1780|822/1257|274/418||,A|sequence_feature|LOW|SSTR3|ENSG00000183473|transmembrane_region:Transmembrane_region|ENST00000402501|protein_coding|2/2|c.822C>T|||||| 22 37603051 . C T . . ANN=T|synonymous_variant|LOW|SSTR3|ENSG00000183473|transcript|ENST00000328544|protein_coding|2/2|c.792G>A|p.Ala264Ala|1326/4099|792/1257|264/418||,T|synonymous_variant|LOW|SSTR3|ENSG00000183473|transcript|ENST00000402501|protein_coding|2/2|c.792G>A|p.Ala264Ala|1249/1780|792/1257|264/418||,T|sequence_feature|LOW|SSTR3|ENSG00000183473|transmembrane_region:Transmembrane_region|ENST00000402501|protein_coding|2/2|c.792G>A|||||| 22 37603073 . C T . . ANN=T|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000328544|protein_coding|2/2|c.770G>A|p.Arg257His|1304/4099|770/1257|257/418||,T|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000402501|protein_coding|2/2|c.770G>A|p.Arg257His|1227/1780|770/1257|257/418||,T|sequence_feature|LOW|SSTR3|ENSG00000183473|topological_domain:Cytoplasmic|ENST00000402501|protein_coding|2/2|c.770G>A|||||| 22 37603112 . G A . . ANN=A|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000328544|protein_coding|2/2|c.731C>T|p.Ser244Leu|1265/4099|731/1257|244/418||,A|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000402501|protein_coding|2/2|c.731C>T|p.Ser244Leu|1188/1780|731/1257|244/418||,A|sequence_feature|LOW|SSTR3|ENSG00000183473|topological_domain:Cytoplasmic|ENST00000402501|protein_coding|2/2|c.731C>T|||||| 22 37603127 . C T . . ANN=T|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000328544|protein_coding|2/2|c.716G>A|p.Arg239Gln|1250/4099|716/1257|239/418||,T|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000402501|protein_coding|2/2|c.716G>A|p.Arg239Gln|1173/1780|716/1257|239/418||,T|sequence_feature|LOW|SSTR3|ENSG00000183473|topological_domain:Cytoplasmic|ENST00000402501|protein_coding|2/2|c.716G>A|||||| 22 37603213 . C T . . ANN=T|synonymous_variant|LOW|SSTR3|ENSG00000183473|transcript|ENST00000328544|protein_coding|2/2|c.630G>A|p.Thr210Thr|1164/4099|630/1257|210/418||,T|synonymous_variant|LOW|SSTR3|ENSG00000183473|transcript|ENST00000402501|protein_coding|2/2|c.630G>A|p.Thr210Thr|1087/1780|630/1257|210/418||,T|sequence_feature|LOW|SSTR3|ENSG00000183473|transmembrane_region:Transmembrane_region|ENST00000402501|protein_coding|2/2|c.630G>A|||||| 22 37603311 . C T . . ANN=T|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000328544|protein_coding|2/2|c.532G>A|p.Val178Met|1066/4099|532/1257|178/418||,T|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000402501|protein_coding|2/2|c.532G>A|p.Val178Met|989/1780|532/1257|178/418||,T|sequence_feature|LOW|SSTR3|ENSG00000183473|disulfide_bond|ENST00000402501|protein_coding|2/2|c.532G>A||||||,T|sequence_feature|LOW|SSTR3|ENSG00000183473|transmembrane_region:Transmembrane_region|ENST00000402501|protein_coding|2/2|c.532G>A|||||| 22 37603326 . C T . . ANN=T|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000328544|protein_coding|2/2|c.517G>A|p.Val173Met|1051/4099|517/1257|173/418||,T|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000402501|protein_coding|2/2|c.517G>A|p.Val173Met|974/1780|517/1257|173/418||,T|sequence_feature|LOW|SSTR3|ENSG00000183473|disulfide_bond|ENST00000402501|protein_coding|2/2|c.517G>A||||||,T|sequence_feature|LOW|SSTR3|ENSG00000183473|transmembrane_region:Transmembrane_region|ENST00000402501|protein_coding|2/2|c.517G>A|||||| 22 37603327 . G A . . ANN=A|synonymous_variant|LOW|SSTR3|ENSG00000183473|transcript|ENST00000328544|protein_coding|2/2|c.516C>T|p.Ala172Ala|1050/4099|516/1257|172/418||,A|synonymous_variant|LOW|SSTR3|ENSG00000183473|transcript|ENST00000402501|protein_coding|2/2|c.516C>T|p.Ala172Ala|973/1780|516/1257|172/418||,A|sequence_feature|LOW|SSTR3|ENSG00000183473|disulfide_bond|ENST00000402501|protein_coding|2/2|c.516C>T||||||,A|sequence_feature|LOW|SSTR3|ENSG00000183473|transmembrane_region:Transmembrane_region|ENST00000402501|protein_coding|2/2|c.516C>T|||||| 22 37603351 . G A . . ANN=A|synonymous_variant|LOW|SSTR3|ENSG00000183473|transcript|ENST00000328544|protein_coding|2/2|c.492C>T|p.Ser164Ser|1026/4099|492/1257|164/418||,A|synonymous_variant|LOW|SSTR3|ENSG00000183473|transcript|ENST00000402501|protein_coding|2/2|c.492C>T|p.Ser164Ser|949/1780|492/1257|164/418||,A|sequence_feature|LOW|SSTR3|ENSG00000183473|disulfide_bond|ENST00000402501|protein_coding|2/2|c.492C>T||||||,A|sequence_feature|LOW|SSTR3|ENSG00000183473|transmembrane_region:Transmembrane_region|ENST00000402501|protein_coding|2/2|c.492C>T|||||| 22 37603358 . G A . . ANN=A|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000328544|protein_coding|2/2|c.485C>T|p.Thr162Met|1019/4099|485/1257|162/418||,A|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000402501|protein_coding|2/2|c.485C>T|p.Thr162Met|942/1780|485/1257|162/418||,A|sequence_feature|LOW|SSTR3|ENSG00000183473|disulfide_bond|ENST00000402501|protein_coding|2/2|c.485C>T||||||,A|sequence_feature|LOW|SSTR3|ENSG00000183473|transmembrane_region:Transmembrane_region|ENST00000402501|protein_coding|2/2|c.485C>T|||||| 22 37603372 . A G . . ANN=G|synonymous_variant|LOW|SSTR3|ENSG00000183473|transcript|ENST00000328544|protein_coding|2/2|c.471T>C|p.Ala157Ala|1005/4099|471/1257|157/418||,G|synonymous_variant|LOW|SSTR3|ENSG00000183473|transcript|ENST00000402501|protein_coding|2/2|c.471T>C|p.Ala157Ala|928/1780|471/1257|157/418||,G|sequence_feature|LOW|SSTR3|ENSG00000183473|disulfide_bond|ENST00000402501|protein_coding|2/2|c.471T>C||||||,G|sequence_feature|LOW|SSTR3|ENSG00000183473|topological_domain:Cytoplasmic|ENST00000402501|protein_coding|2/2|c.471T>C|||||| 22 37603390 . C T . . ANN=T|synonymous_variant|LOW|SSTR3|ENSG00000183473|transcript|ENST00000328544|protein_coding|2/2|c.453G>A|p.Ser151Ser|987/4099|453/1257|151/418||,T|synonymous_variant|LOW|SSTR3|ENSG00000183473|transcript|ENST00000402501|protein_coding|2/2|c.453G>A|p.Ser151Ser|910/1780|453/1257|151/418||,T|sequence_feature|LOW|SSTR3|ENSG00000183473|disulfide_bond|ENST00000402501|protein_coding|2/2|c.453G>A||||||,T|sequence_feature|LOW|SSTR3|ENSG00000183473|topological_domain:Cytoplasmic|ENST00000402501|protein_coding|2/2|c.453G>A|||||| 22 37603391 . G A . . ANN=A|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000328544|protein_coding|2/2|c.452C>T|p.Ser151Leu|986/4099|452/1257|151/418||,A|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000402501|protein_coding|2/2|c.452C>T|p.Ser151Leu|909/1780|452/1257|151/418||,A|sequence_feature|LOW|SSTR3|ENSG00000183473|disulfide_bond|ENST00000402501|protein_coding|2/2|c.452C>T||||||,A|sequence_feature|LOW|SSTR3|ENSG00000183473|topological_domain:Cytoplasmic|ENST00000402501|protein_coding|2/2|c.452C>T|||||| 22 37603414 . C T . . ANN=T|synonymous_variant|LOW|SSTR3|ENSG00000183473|transcript|ENST00000328544|protein_coding|2/2|c.429G>A|p.Leu143Leu|963/4099|429/1257|143/418||,T|synonymous_variant|LOW|SSTR3|ENSG00000183473|transcript|ENST00000402501|protein_coding|2/2|c.429G>A|p.Leu143Leu|886/1780|429/1257|143/418||,T|sequence_feature|LOW|SSTR3|ENSG00000183473|disulfide_bond|ENST00000402501|protein_coding|2/2|c.429G>A||||||,T|sequence_feature|LOW|SSTR3|ENSG00000183473|topological_domain:Cytoplasmic|ENST00000402501|protein_coding|2/2|c.429G>A|||||| 22 37603531 . G A . . ANN=A|synonymous_variant|LOW|SSTR3|ENSG00000183473|transcript|ENST00000328544|protein_coding|2/2|c.312C>T|p.Asn104Asn|846/4099|312/1257|104/418||,A|synonymous_variant|LOW|SSTR3|ENSG00000183473|transcript|ENST00000402501|protein_coding|2/2|c.312C>T|p.Asn104Asn|769/1780|312/1257|104/418||,A|sequence_feature|LOW|SSTR3|ENSG00000183473|topological_domain:Extracellular|ENST00000402501|protein_coding|2/2|c.312C>T|||||| 22 37603603 . G A . . ANN=A|synonymous_variant|LOW|SSTR3|ENSG00000183473|transcript|ENST00000328544|protein_coding|2/2|c.240C>T|p.Asn80Asn|774/4099|240/1257|80/418||,A|synonymous_variant|LOW|SSTR3|ENSG00000183473|transcript|ENST00000402501|protein_coding|2/2|c.240C>T|p.Asn80Asn|697/1780|240/1257|80/418||,A|sequence_feature|LOW|SSTR3|ENSG00000183473|transmembrane_region:Transmembrane_region|ENST00000402501|protein_coding|2/2|c.240C>T|||||| 22 37603654 . C T . . ANN=T|synonymous_variant|LOW|SSTR3|ENSG00000183473|transcript|ENST00000328544|protein_coding|2/2|c.189G>A|p.Ser63Ser|723/4099|189/1257|63/418||,T|synonymous_variant|LOW|SSTR3|ENSG00000183473|transcript|ENST00000402501|protein_coding|2/2|c.189G>A|p.Ser63Ser|646/1780|189/1257|63/418||,T|sequence_feature|LOW|SSTR3|ENSG00000183473|transmembrane_region:Transmembrane_region|ENST00000402501|protein_coding|2/2|c.189G>A|||||| 22 37603733 . G A . . ANN=A|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000328544|protein_coding|2/2|c.110C>T|p.Pro37Leu|644/4099|110/1257|37/418||,A|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000402501|protein_coding|2/2|c.110C>T|p.Pro37Leu|567/1780|110/1257|37/418||,A|sequence_feature|LOW|SSTR3|ENSG00000183473|topological_domain:Extracellular|ENST00000402501|protein_coding|2/2|c.110C>T|||||| 22 37603744 . C T . . ANN=T|synonymous_variant|LOW|SSTR3|ENSG00000183473|transcript|ENST00000328544|protein_coding|2/2|c.99G>A|p.Ala33Ala|633/4099|99/1257|33/418||,T|synonymous_variant|LOW|SSTR3|ENSG00000183473|transcript|ENST00000402501|protein_coding|2/2|c.99G>A|p.Ala33Ala|556/1780|99/1257|33/418||,T|sequence_feature|LOW|SSTR3|ENSG00000183473|topological_domain:Extracellular|ENST00000402501|protein_coding|2/2|c.99G>A|||||| 22 37622731 . G A . . ANN=A|synonymous_variant|LOW|RAC2|ENSG00000128340|transcript|ENST00000249071|protein_coding|6/7|c.561C>T|p.Arg187Arg|683/1482|561/579|187/192||,A|synonymous_variant|LOW|RAC2|ENSG00000128340|transcript|ENST00000406508|protein_coding|6/7|c.429C>T|p.Arg143Arg|685/893|429/447|143/148||,A|synonymous_variant|LOW|RAC2|ENSG00000128340|transcript|ENST00000405484|protein_coding|6/6|c.540C>T|p.Arg180Arg|824/842|540/558|180/185||,A|upstream_gene_variant|MODIFIER|Z82188.1|ENSG00000255594|transcript|ENST00000417990|pseudogene||n.-1C>T|||||696|,A|downstream_gene_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000441619|protein_coding||c.*705C>T|||||62|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000481215|retained_intron|2/3|n.386C>T|||||| 22 37622791 . G A . . ANN=A|synonymous_variant|LOW|RAC2|ENSG00000128340|transcript|ENST00000249071|protein_coding|6/7|c.501C>T|p.Thr167Thr|623/1482|501/579|167/192||,A|synonymous_variant|LOW|RAC2|ENSG00000128340|transcript|ENST00000406508|protein_coding|6/7|c.369C>T|p.Thr123Thr|625/893|369/447|123/148||,A|synonymous_variant|LOW|RAC2|ENSG00000128340|transcript|ENST00000405484|protein_coding|6/6|c.480C>T|p.Thr160Thr|764/842|480/558|160/185||,A|sequence_feature|LOW|RAC2|ENSG00000128340|helix|ENST00000249071|protein_coding|6/7|c.501C>T||||||,A|upstream_gene_variant|MODIFIER|Z82188.1|ENSG00000255594|transcript|ENST00000417990|pseudogene||n.-1C>T|||||756|,A|downstream_gene_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000441619|protein_coding||c.*705C>T|||||2|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000481215|retained_intron|2/3|n.326C>T|||||| 22 37622815 . A G . . ANN=G|synonymous_variant|LOW|RAC2|ENSG00000128340|transcript|ENST00000249071|protein_coding|6/7|c.477T>C|p.Ala159Ala|599/1482|477/579|159/192||,G|synonymous_variant|LOW|RAC2|ENSG00000128340|transcript|ENST00000406508|protein_coding|6/7|c.345T>C|p.Ala115Ala|601/893|345/447|115/148||,G|synonymous_variant|LOW|RAC2|ENSG00000128340|transcript|ENST00000405484|protein_coding|6/6|c.456T>C|p.Ala152Ala|740/842|456/558|152/185||,G|synonymous_variant|LOW|RAC2|ENSG00000128340|transcript|ENST00000441619|protein_coding|7/7|c.477T>C|p.Ala159Ala|683/705|477/499|159/165||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|RAC2|ENSG00000128340|turn|ENST00000249071|protein_coding|6/7|c.477T>C||||||,G|upstream_gene_variant|MODIFIER|Z82188.1|ENSG00000255594|transcript|ENST00000417990|pseudogene||n.-1T>C|||||780|,G|non_coding_exon_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000481215|retained_intron|2/3|n.302T>C|||||| 22 37622861 . C A . . ANN=A|upstream_gene_variant|MODIFIER|Z82188.1|ENSG00000255594|transcript|ENST00000417990|pseudogene||n.-1G>T|||||826|,A|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000249071|protein_coding|5/6|c.449-18G>T||||||,A|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000406508|protein_coding|5/6|c.317-18G>T||||||,A|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000481215|retained_intron|1/2|n.274-18G>T||||||,A|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000405484|protein_coding|5/5|c.428-18G>T||||||,A|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000441619|protein_coding|6/6|c.449-18G>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 37622880 . G GT . . ANN=T|upstream_gene_variant|MODIFIER|Z82188.1|ENSG00000255594|transcript|ENST00000417990|pseudogene||n.-1dupA|||||846|,T|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000249071|protein_coding|5/6|c.449-38dupA||||||,T|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000406508|protein_coding|5/6|c.317-38dupA||||||,T|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000481215|retained_intron|1/2|n.274-38dupA||||||,T|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000405484|protein_coding|5/5|c.428-38dupA||||||,T|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000441619|protein_coding|6/6|c.449-38dupA||||||WARNING_TRANSCRIPT_INCOMPLETE 22 37622881 . T TTG . . ANN=TG|upstream_gene_variant|MODIFIER|Z82188.1|ENSG00000255594|transcript|ENST00000417990|pseudogene||n.-1_-1insCA|||||847|,TG|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000249071|protein_coding|5/6|c.449-39_449-38insCA||||||,TG|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000406508|protein_coding|5/6|c.317-39_317-38insCA||||||,TG|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000481215|retained_intron|1/2|n.274-39_274-38insCA||||||,TG|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000405484|protein_coding|5/5|c.428-39_428-38insCA||||||,TG|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000441619|protein_coding|6/6|c.449-39_449-38insCA||||||WARNING_TRANSCRIPT_INCOMPLETE 22 37622883 . GC G . . ANN=|upstream_gene_variant|MODIFIER|Z82188.1|ENSG00000255594|transcript|ENST00000417990|pseudogene||n.-1delG|||||849|,|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000249071|protein_coding|5/6|c.449-41delG||||||,|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000406508|protein_coding|5/6|c.317-41delG||||||,|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000481215|retained_intron|1/2|n.274-41delG||||||,|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000405484|protein_coding|5/5|c.428-41delG||||||,|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000441619|protein_coding|6/6|c.449-41delG||||||WARNING_TRANSCRIPT_INCOMPLETE 22 37622884 . CG C . . ANN=|upstream_gene_variant|MODIFIER|Z82188.1|ENSG00000255594|transcript|ENST00000417990|pseudogene||n.-1delC|||||850|,|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000249071|protein_coding|5/6|c.449-42delC||||||,|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000406508|protein_coding|5/6|c.317-42delC||||||,|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000481215|retained_intron|1/2|n.274-42delC||||||,|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000405484|protein_coding|5/5|c.428-42delC||||||,|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000441619|protein_coding|6/6|c.449-42delC||||||WARNING_TRANSCRIPT_INCOMPLETE 22 37622888 . G GT . . ANN=T|upstream_gene_variant|MODIFIER|Z82188.1|ENSG00000255594|transcript|ENST00000417990|pseudogene||n.-1_-1insA|||||854|,T|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000249071|protein_coding|5/6|c.449-46_449-45insA||||||,T|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000406508|protein_coding|5/6|c.317-46_317-45insA||||||,T|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000481215|retained_intron|1/2|n.274-46_274-45insA||||||,T|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000405484|protein_coding|5/5|c.428-46_428-45insA||||||,T|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000441619|protein_coding|6/6|c.449-46_449-45insA||||||WARNING_TRANSCRIPT_INCOMPLETE 22 37627234 . T C . . ANN=C|downstream_gene_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000469532|retained_intron||n.*752A>G|||||1210|,C|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000249071|protein_coding|5/6|c.448+37A>G||||||,C|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000406508|protein_coding|5/6|c.316+37A>G||||||,C|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000481215|retained_intron|1/2|n.273+37A>G||||||,C|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000405484|protein_coding|5/5|c.427+37A>G||||||,C|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000441619|protein_coding|6/6|c.448+37A>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 37627246 . G C . . ANN=C|downstream_gene_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000469532|retained_intron||n.*752C>G|||||1198|,C|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000249071|protein_coding|5/6|c.448+25C>G||||||,C|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000406508|protein_coding|5/6|c.316+25C>G||||||,C|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000481215|retained_intron|1/2|n.273+25C>G||||||,C|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000405484|protein_coding|5/5|c.427+25C>G||||||,C|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000441619|protein_coding|6/6|c.448+25C>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 37627480 . G A . . ANN=A|downstream_gene_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000469532|retained_intron||n.*752C>T|||||964|,A|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000249071|protein_coding|4/6|c.289-50C>T||||||,A|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000406508|protein_coding|4/6|c.157-50C>T||||||,A|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000405484|protein_coding|4/5|c.268-50C>T||||||,A|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000441619|protein_coding|5/6|c.289-50C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000481215|retained_intron|1/3|n.64C>T|||||| 22 37627978 . G A . . ANN=A|synonymous_variant|LOW|RAC2|ENSG00000128340|transcript|ENST00000249071|protein_coding|4/7|c.282C>T|p.Arg94Arg|404/1482|282/579|94/192||,A|synonymous_variant|LOW|RAC2|ENSG00000128340|transcript|ENST00000406508|protein_coding|4/7|c.150C>T|p.Arg50Arg|406/893|150/447|50/148||,A|synonymous_variant|LOW|RAC2|ENSG00000128340|transcript|ENST00000405484|protein_coding|4/6|c.261C>T|p.Arg87Arg|545/842|261/558|87/185||,A|synonymous_variant|LOW|RAC2|ENSG00000128340|transcript|ENST00000441619|protein_coding|5/7|c.282C>T|p.Arg94Arg|488/705|282/499|94/165||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|RAC2|ENSG00000128340|helix|ENST00000249071|protein_coding|4/7|c.282C>T||||||,A|upstream_gene_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000481215|retained_intron||n.-1C>T|||||435|,A|downstream_gene_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000469532|retained_intron||n.*752C>T|||||466| 22 37628008 . G A . . ANN=A|synonymous_variant|LOW|RAC2|ENSG00000128340|transcript|ENST00000249071|protein_coding|4/7|c.252C>T|p.Leu84Leu|374/1482|252/579|84/192||,A|synonymous_variant|LOW|RAC2|ENSG00000128340|transcript|ENST00000406508|protein_coding|4/7|c.120C>T|p.Leu40Leu|376/893|120/447|40/148||,A|synonymous_variant|LOW|RAC2|ENSG00000128340|transcript|ENST00000405484|protein_coding|4/6|c.231C>T|p.Leu77Leu|515/842|231/558|77/185||,A|synonymous_variant|LOW|RAC2|ENSG00000128340|transcript|ENST00000441619|protein_coding|5/7|c.252C>T|p.Leu84Leu|458/705|252/499|84/165||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000481215|retained_intron||n.-1C>T|||||465|,A|downstream_gene_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000469532|retained_intron||n.*752C>T|||||436| 22 37628050 . G A . . ANN=A|upstream_gene_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000481215|retained_intron||n.-1C>T|||||507|,A|downstream_gene_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000469532|retained_intron||n.*752C>T|||||394|,A|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000249071|protein_coding|3/6|c.226-16C>T||||||,A|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000406508|protein_coding|3/6|c.94-16C>T||||||,A|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000405484|protein_coding|3/5|c.205-16C>T||||||,A|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000441619|protein_coding|4/6|c.226-16C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 37628053 . A AG . . ANN=G|upstream_gene_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000481215|retained_intron||n.-1dupC|||||511|,G|downstream_gene_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000469532|retained_intron||n.*752dupC|||||390|,G|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000249071|protein_coding|3/6|c.226-20dupC||||||,G|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000406508|protein_coding|3/6|c.94-20dupC||||||,G|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000405484|protein_coding|3/5|c.205-20dupC||||||,G|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000441619|protein_coding|4/6|c.226-20dupC||||||WARNING_TRANSCRIPT_INCOMPLETE 22 37628054 . G GT . . ANN=T|upstream_gene_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000481215|retained_intron||n.-1_-1insA|||||512|,T|downstream_gene_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000469532|retained_intron||n.*752_*752insA|||||389|,T|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000249071|protein_coding|3/6|c.226-21_226-20insA||||||,T|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000406508|protein_coding|3/6|c.94-21_94-20insA||||||,T|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000405484|protein_coding|3/5|c.205-21_205-20insA||||||,T|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000441619|protein_coding|4/6|c.226-21_226-20insA||||||WARNING_TRANSCRIPT_INCOMPLETE 22 37628055 . G GT . . ANN=T|upstream_gene_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000481215|retained_intron||n.-1dupA|||||513|,T|downstream_gene_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000469532|retained_intron||n.*752dupA|||||388|,T|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000249071|protein_coding|3/6|c.226-22dupA||||||,T|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000406508|protein_coding|3/6|c.94-22dupA||||||,T|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000405484|protein_coding|3/5|c.205-22dupA||||||,T|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000441619|protein_coding|4/6|c.226-22dupA||||||WARNING_TRANSCRIPT_INCOMPLETE 22 37628993 . T G . . ANN=G|sequence_feature|LOW|RAC2|ENSG00000128340|short_sequence_motif:Effector_region|ENST00000249071|protein_coding|2/7|c.108-35A>C||||||,G|sequence_feature|LOW|RAC2|ENSG00000128340|short_sequence_motif:Effector_region|ENST00000249071|protein_coding|3/7|c.108-35A>C||||||,G|upstream_gene_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000481215|retained_intron||n.-1A>C|||||1450|,G|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000249071|protein_coding|2/6|c.108-35A>C||||||,G|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000406508|protein_coding|2/6|c.-25-35A>C||||||,G|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000405484|protein_coding|2/5|c.87-35A>C||||||,G|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000441619|protein_coding|3/6|c.108-35A>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000469532|retained_intron|2/2|n.238-35A>C|||||| 22 37629002 . C T . . ANN=T|sequence_feature|LOW|RAC2|ENSG00000128340|short_sequence_motif:Effector_region|ENST00000249071|protein_coding|2/7|c.108-44G>A||||||,T|sequence_feature|LOW|RAC2|ENSG00000128340|short_sequence_motif:Effector_region|ENST00000249071|protein_coding|3/7|c.108-44G>A||||||,T|upstream_gene_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000481215|retained_intron||n.-1G>A|||||1459|,T|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000249071|protein_coding|2/6|c.108-44G>A||||||,T|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000406508|protein_coding|2/6|c.-25-44G>A||||||,T|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000405484|protein_coding|2/5|c.87-44G>A||||||,T|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000441619|protein_coding|3/6|c.108-44G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000469532|retained_intron|2/2|n.238-44G>A|||||| 22 37637578 . GA G . . ANN=|sequence_feature|LOW|RAC2|ENSG00000128340|short_sequence_motif:Effector_region|ENST00000249071|protein_coding|2/7|c.107+48delT||||||,|sequence_feature|LOW|RAC2|ENSG00000128340|short_sequence_motif:Effector_region|ENST00000249071|protein_coding|3/7|c.107+48delT||||||,|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000249071|protein_coding|2/6|c.107+48delT||||||,|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000406508|protein_coding|2/6|c.-26+48delT||||||,|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000405484|protein_coding|2/5|c.86+48delT||||||,|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000441619|protein_coding|3/6|c.107+48delT||||||WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000469532|retained_intron|2/2|n.237+48delT||||||,|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000401529|protein_coding|2/2|c.107+48delT|||||| 22 37637581 . G A . . ANN=A|sequence_feature|LOW|RAC2|ENSG00000128340|short_sequence_motif:Effector_region|ENST00000249071|protein_coding|2/7|c.107+46C>T||||||,A|sequence_feature|LOW|RAC2|ENSG00000128340|short_sequence_motif:Effector_region|ENST00000249071|protein_coding|3/7|c.107+46C>T||||||,A|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000249071|protein_coding|2/6|c.107+46C>T||||||,A|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000406508|protein_coding|2/6|c.-26+46C>T||||||,A|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000405484|protein_coding|2/5|c.86+46C>T||||||,A|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000441619|protein_coding|3/6|c.107+46C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000469532|retained_intron|2/2|n.237+46C>T||||||,A|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000401529|protein_coding|2/2|c.107+46C>T|||||| 22 37637607 . A G . . ANN=G|sequence_feature|LOW|RAC2|ENSG00000128340|short_sequence_motif:Effector_region|ENST00000249071|protein_coding|2/7|c.107+20T>C||||||,G|sequence_feature|LOW|RAC2|ENSG00000128340|short_sequence_motif:Effector_region|ENST00000249071|protein_coding|3/7|c.107+20T>C||||||,G|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000249071|protein_coding|2/6|c.107+20T>C||||||,G|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000406508|protein_coding|2/6|c.-26+20T>C||||||,G|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000405484|protein_coding|2/5|c.86+20T>C||||||,G|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000441619|protein_coding|3/6|c.107+20T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000469532|retained_intron|2/2|n.237+20T>C||||||,G|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000401529|protein_coding|2/2|c.107+20T>C|||||| 22 37637653 . G C . . ANN=C|synonymous_variant|LOW|RAC2|ENSG00000128340|transcript|ENST00000249071|protein_coding|2/7|c.81C>G|p.Ala27Ala|203/1482|81/579|27/192||,C|synonymous_variant|LOW|RAC2|ENSG00000128340|transcript|ENST00000405484|protein_coding|2/6|c.60C>G|p.Ala20Ala|344/842|60/558|20/185||,C|synonymous_variant|LOW|RAC2|ENSG00000128340|transcript|ENST00000441619|protein_coding|3/7|c.81C>G|p.Ala27Ala|287/705|81/499|27/165||WARNING_TRANSCRIPT_INCOMPLETE,C|synonymous_variant|LOW|RAC2|ENSG00000128340|transcript|ENST00000401529|protein_coding|2/3|c.81C>G|p.Ala27Ala|181/569|81/261|27/86||,C|5_prime_UTR_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000406508|protein_coding|2/7|c.-52C>G|||||8720|,C|non_coding_exon_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000469532|retained_intron|2/3|n.211C>G|||||| 22 37637743 . C T . . ANN=T|sequence_feature|LOW|RAC2|ENSG00000128340|nucleotide_phosphate-binding_region:GTP|ENST00000249071|protein_coding|2/7|c.36-45G>A||||||,T|sequence_feature|LOW|RAC2|ENSG00000128340|nucleotide_phosphate-binding_region:GTP|ENST00000249071|protein_coding|1/7|c.36-45G>A||||||,T|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000249071|protein_coding|1/6|c.36-45G>A||||||,T|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000406508|protein_coding|1/6|c.-97-45G>A||||||,T|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000405484|protein_coding|1/5|c.15-45G>A||||||,T|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000441619|protein_coding|2/6|c.36-45G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000469532|retained_intron|1/2|n.166-45G>A||||||,T|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000401529|protein_coding|1/2|c.36-45G>A|||||| 22 37640138 . C T . . ANN=T|sequence_feature|LOW|RAC2|ENSG00000128340|nucleotide_phosphate-binding_region:GTP|ENST00000249071|protein_coding|2/7|c.35+16G>A||||||,T|sequence_feature|LOW|RAC2|ENSG00000128340|nucleotide_phosphate-binding_region:GTP|ENST00000249071|protein_coding|1/7|c.35+16G>A||||||,T|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000249071|protein_coding|1/6|c.35+16G>A||||||,T|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000406508|protein_coding|1/6|c.-98+192G>A||||||,T|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000405484|protein_coding|1/5|c.14+37G>A||||||,T|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000441619|protein_coding|2/6|c.35+16G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000469532|retained_intron|1/2|n.165+16G>A||||||,T|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000401529|protein_coding|1/2|c.35+16G>A|||||| 22 37640232 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000249071|protein_coding|1/7|c.-44G>A|||||44|,T|5_prime_UTR_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000405484|protein_coding|1/6|c.-44G>A|||||44|,T|5_prime_UTR_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000441619|protein_coding|2/7|c.-44G>A|||||44|WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000401529|protein_coding|1/3|c.-44G>A|||||44|,T|intron_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000406508|protein_coding|1/6|c.-98+98G>A||||||,T|non_coding_exon_variant|MODIFIER|RAC2|ENSG00000128340|transcript|ENST00000469532|retained_intron|1/3|n.87G>A|||||| 22 37678565 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000248901|protein_coding|1/13|c.-46G>A|||||46|,A|5_prime_UTR_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000457992|protein_coding|2/6|c.-46G>A|||||46|WARNING_TRANSCRIPT_INCOMPLETE,A|5_prime_UTR_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000402997|protein_coding|1/7|c.-46G>A|||||46|,A|5_prime_UTR_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000405206|protein_coding|1/7|c.-46G>A|||||46|,A|upstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000462927|retained_intron||n.-1G>A|||||1|,A|upstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000480510|retained_intron||n.-1G>A|||||3|,A|upstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000439667|processed_transcript||n.-1G>A|||||7|,A|non_coding_exon_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000469886|retained_intron|1/5|n.10G>A|||||| 22 37678572 . G C . . ANN=C|5_prime_UTR_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000248901|protein_coding|1/13|c.-39G>C|||||39|,C|5_prime_UTR_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000457992|protein_coding|2/6|c.-39G>C|||||39|WARNING_TRANSCRIPT_INCOMPLETE,C|5_prime_UTR_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000402997|protein_coding|1/7|c.-39G>C|||||39|,C|5_prime_UTR_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000405206|protein_coding|1/7|c.-39G>C|||||39|,C|non_coding_exon_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000469886|retained_intron|1/5|n.17G>C||||||,C|non_coding_exon_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000462927|retained_intron|1/13|n.7G>C||||||,C|non_coding_exon_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000480510|retained_intron|1/4|n.5G>C||||||,C|non_coding_exon_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000439667|processed_transcript|1/8|n.1G>C|||||| 22 37678575 . A T . . ANN=T|5_prime_UTR_premature_start_codon_gain_variant|LOW|CYTH4|ENSG00000100055|transcript|ENST00000248901|protein_coding|1/13|c.-36A>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|CYTH4|ENSG00000100055|transcript|ENST00000457992|protein_coding|2/6|c.-36A>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|CYTH4|ENSG00000100055|transcript|ENST00000402997|protein_coding|1/7|c.-36A>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|CYTH4|ENSG00000100055|transcript|ENST00000405206|protein_coding|1/7|c.-36A>T||||||,T|5_prime_UTR_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000248901|protein_coding|1/13|c.-36A>T|||||36|,T|5_prime_UTR_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000457992|protein_coding|2/6|c.-36A>T|||||36|WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000402997|protein_coding|1/7|c.-36A>T|||||36|,T|5_prime_UTR_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000405206|protein_coding|1/7|c.-36A>T|||||36|,T|non_coding_exon_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000469886|retained_intron|1/5|n.20A>T||||||,T|non_coding_exon_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000462927|retained_intron|1/13|n.10A>T||||||,T|non_coding_exon_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000480510|retained_intron|1/4|n.8A>T||||||,T|non_coding_exon_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000439667|processed_transcript|1/8|n.4A>T|||||| 22 37678588 . A G . . ANN=G|5_prime_UTR_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000248901|protein_coding|1/13|c.-23A>G|||||23|,G|5_prime_UTR_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000457992|protein_coding|2/6|c.-23A>G|||||23|WARNING_TRANSCRIPT_INCOMPLETE,G|5_prime_UTR_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000402997|protein_coding|1/7|c.-23A>G|||||23|,G|5_prime_UTR_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000405206|protein_coding|1/7|c.-23A>G|||||23|,G|non_coding_exon_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000469886|retained_intron|1/5|n.33A>G||||||,G|non_coding_exon_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000462927|retained_intron|1/13|n.23A>G||||||,G|non_coding_exon_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000480510|retained_intron|1/4|n.21A>G||||||,G|non_coding_exon_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000439667|processed_transcript|1/8|n.17A>G|||||| 22 37678661 . C A . . ANN=A|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000248901|protein_coding|1/12|c.19+32C>A||||||,A|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000457992|protein_coding|2/5|c.19+32C>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000402997|protein_coding|1/6|c.19+32C>A||||||,A|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000405206|protein_coding|1/6|c.19+32C>A||||||,A|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000469886|retained_intron|1/4|n.74+32C>A||||||,A|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000462927|retained_intron|1/12|n.64+32C>A||||||,A|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000480510|retained_intron|1/3|n.62+32C>A||||||,A|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000439667|processed_transcript|1/7|n.58+32C>A|||||| 22 37688646 . G A . . ANN=A|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000248901|protein_coding|1/12|c.20-16G>A||||||,A|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000457992|protein_coding|2/5|c.20-16G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000402997|protein_coding|1/6|c.20-16G>A||||||,A|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000405206|protein_coding|1/6|c.20-16G>A||||||,A|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000469886|retained_intron|1/4|n.75-16G>A||||||,A|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000462927|retained_intron|1/12|n.65-16G>A||||||,A|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000480510|retained_intron|1/3|n.63-16G>A||||||,A|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000439667|processed_transcript|1/7|n.59-16G>A||||||,A|non_coding_exon_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000467664|retained_intron|1/2|n.462G>A|||||| 22 37688753 . A G . . ANN=G|sequence_feature|LOW|CYTH4|ENSG00000100055|coiled-coil_region|ENST00000248901|protein_coding|4/13|c.102+9A>G||||||,G|sequence_feature|LOW|CYTH4|ENSG00000100055|coiled-coil_region|ENST00000248901|protein_coding|3/13|c.102+9A>G||||||,G|sequence_feature|LOW|CYTH4|ENSG00000100055|coiled-coil_region|ENST00000248901|protein_coding|2/13|c.102+9A>G||||||,G|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000248901|protein_coding|2/12|c.102+9A>G||||||,G|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000457992|protein_coding|3/5|c.102+9A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000402997|protein_coding|2/6|c.102+9A>G||||||,G|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000405206|protein_coding|2/6|c.102+9A>G||||||,G|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000469886|retained_intron|2/4|n.157+9A>G||||||,G|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000462927|retained_intron|2/12|n.147+9A>G||||||,G|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000480510|retained_intron|2/3|n.145+9A>G||||||,G|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000439667|processed_transcript|2/7|n.141+9A>G||||||,G|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000467664|retained_intron|1/1|n.560+9A>G|||||| 22 37688758 . C T . . ANN=T|sequence_feature|LOW|CYTH4|ENSG00000100055|coiled-coil_region|ENST00000248901|protein_coding|4/13|c.102+14C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|coiled-coil_region|ENST00000248901|protein_coding|3/13|c.102+14C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|coiled-coil_region|ENST00000248901|protein_coding|2/13|c.102+14C>T||||||,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000248901|protein_coding|2/12|c.102+14C>T||||||,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000457992|protein_coding|3/5|c.102+14C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000402997|protein_coding|2/6|c.102+14C>T||||||,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000405206|protein_coding|2/6|c.102+14C>T||||||,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000469886|retained_intron|2/4|n.157+14C>T||||||,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000462927|retained_intron|2/12|n.147+14C>T||||||,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000480510|retained_intron|2/3|n.145+14C>T||||||,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000439667|processed_transcript|2/7|n.141+14C>T||||||,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000467664|retained_intron|1/1|n.560+14C>T|||||| 22 37688770 . C T . . ANN=T|sequence_feature|LOW|CYTH4|ENSG00000100055|coiled-coil_region|ENST00000248901|protein_coding|4/13|c.102+26C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|coiled-coil_region|ENST00000248901|protein_coding|3/13|c.102+26C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|coiled-coil_region|ENST00000248901|protein_coding|2/13|c.102+26C>T||||||,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000248901|protein_coding|2/12|c.102+26C>T||||||,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000457992|protein_coding|3/5|c.102+26C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000402997|protein_coding|2/6|c.102+26C>T||||||,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000405206|protein_coding|2/6|c.102+26C>T||||||,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000469886|retained_intron|2/4|n.157+26C>T||||||,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000462927|retained_intron|2/12|n.147+26C>T||||||,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000480510|retained_intron|2/3|n.145+26C>T||||||,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000439667|processed_transcript|2/7|n.141+26C>T||||||,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000467664|retained_intron|1/1|n.560+26C>T|||||| 22 37690683 . G T . . ANN=T|sequence_feature|LOW|CYTH4|ENSG00000100055|coiled-coil_region|ENST00000248901|protein_coding|4/13|c.103-18G>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|coiled-coil_region|ENST00000248901|protein_coding|3/13|c.103-18G>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|coiled-coil_region|ENST00000248901|protein_coding|2/13|c.103-18G>T||||||,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000248901|protein_coding|2/12|c.103-18G>T||||||,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000457992|protein_coding|3/5|c.103-18G>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000402997|protein_coding|2/6|c.103-18G>T||||||,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000405206|protein_coding|2/6|c.103-18G>T||||||,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000469886|retained_intron|2/4|n.158-18G>T||||||,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000462927|retained_intron|2/12|n.148-18G>T||||||,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000480510|retained_intron|2/3|n.146-18G>T||||||,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000439667|processed_transcript|2/7|n.142-18G>T||||||,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000467664|retained_intron|1/1|n.561-18G>T|||||| 22 37690757 . G A . . ANN=A|synonymous_variant|LOW|CYTH4|ENSG00000100055|transcript|ENST00000248901|protein_coding|3/13|c.159G>A|p.Ala53Ala|346/3202|159/1185|53/394||,A|synonymous_variant|LOW|CYTH4|ENSG00000100055|transcript|ENST00000457992|protein_coding|4/6|c.159G>A|p.Ala53Ala|458/652|159/353|53/116||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|CYTH4|ENSG00000100055|transcript|ENST00000402997|protein_coding|3/7|c.159G>A|p.Ala53Ala|254/633|159/465|53/154||,A|synonymous_variant|LOW|CYTH4|ENSG00000100055|transcript|ENST00000405206|protein_coding|3/7|c.159G>A|p.Ala53Ala|242/636|159/474|53/157||,A|sequence_feature|LOW|CYTH4|ENSG00000100055|coiled-coil_region|ENST00000248901|protein_coding|4/13|c.159G>A||||||,A|sequence_feature|LOW|CYTH4|ENSG00000100055|coiled-coil_region|ENST00000248901|protein_coding|3/13|c.159G>A||||||,A|sequence_feature|LOW|CYTH4|ENSG00000100055|coiled-coil_region|ENST00000248901|protein_coding|2/13|c.159G>A||||||,A|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000467664|retained_intron||n.*593G>A|||||24|,A|non_coding_exon_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000469886|retained_intron|3/5|n.214G>A||||||,A|non_coding_exon_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000462927|retained_intron|3/13|n.204G>A||||||,A|non_coding_exon_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000480510|retained_intron|3/4|n.202G>A||||||,A|non_coding_exon_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000439667|processed_transcript|3/8|n.198G>A|||||| 22 37690807 . G A . . ANN=A|sequence_feature|LOW|CYTH4|ENSG00000100055|coiled-coil_region|ENST00000248901|protein_coding|4/13|c.167+42G>A||||||,A|sequence_feature|LOW|CYTH4|ENSG00000100055|coiled-coil_region|ENST00000248901|protein_coding|3/13|c.167+42G>A||||||,A|sequence_feature|LOW|CYTH4|ENSG00000100055|coiled-coil_region|ENST00000248901|protein_coding|2/13|c.167+42G>A||||||,A|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|9/13|c.167+42G>A||||||,A|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|4/13|c.167+42G>A||||||,A|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|6/13|c.167+42G>A||||||,A|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|7/13|c.167+42G>A||||||,A|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|3/13|c.167+42G>A||||||,A|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|5/13|c.167+42G>A||||||,A|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|8/13|c.167+42G>A||||||,A|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000467664|retained_intron||n.*593G>A|||||74|,A|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000248901|protein_coding|3/12|c.167+42G>A||||||,A|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000457992|protein_coding|4/5|c.167+42G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000402997|protein_coding|3/6|c.167+42G>A||||||,A|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000405206|protein_coding|3/6|c.167+42G>A||||||,A|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000469886|retained_intron|3/4|n.222+42G>A||||||,A|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000462927|retained_intron|3/12|n.212+42G>A||||||,A|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000480510|retained_intron|3/3|n.210+42G>A||||||,A|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000439667|processed_transcript|3/7|n.206+42G>A|||||| 22 37690808 . C T . . ANN=T|sequence_feature|LOW|CYTH4|ENSG00000100055|coiled-coil_region|ENST00000248901|protein_coding|4/13|c.167+43C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|coiled-coil_region|ENST00000248901|protein_coding|3/13|c.167+43C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|coiled-coil_region|ENST00000248901|protein_coding|2/13|c.167+43C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|9/13|c.167+43C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|4/13|c.167+43C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|6/13|c.167+43C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|7/13|c.167+43C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|3/13|c.167+43C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|5/13|c.167+43C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|8/13|c.167+43C>T||||||,T|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000467664|retained_intron||n.*593C>T|||||75|,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000248901|protein_coding|3/12|c.167+43C>T||||||,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000457992|protein_coding|4/5|c.167+43C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000402997|protein_coding|3/6|c.167+43C>T||||||,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000405206|protein_coding|3/6|c.167+43C>T||||||,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000469886|retained_intron|3/4|n.222+43C>T||||||,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000462927|retained_intron|3/12|n.212+43C>T||||||,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000480510|retained_intron|3/3|n.210+43C>T||||||,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000439667|processed_transcript|3/7|n.206+43C>T|||||| 22 37692024 . G A . . ANN=A|sequence_feature|LOW|CYTH4|ENSG00000100055|coiled-coil_region|ENST00000248901|protein_coding|4/13|c.168-16G>A||||||,A|sequence_feature|LOW|CYTH4|ENSG00000100055|coiled-coil_region|ENST00000248901|protein_coding|3/13|c.168-16G>A||||||,A|sequence_feature|LOW|CYTH4|ENSG00000100055|coiled-coil_region|ENST00000248901|protein_coding|2/13|c.168-16G>A||||||,A|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|9/13|c.168-16G>A||||||,A|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|4/13|c.168-16G>A||||||,A|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|6/13|c.168-16G>A||||||,A|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|7/13|c.168-16G>A||||||,A|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|3/13|c.168-16G>A||||||,A|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|5/13|c.168-16G>A||||||,A|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|8/13|c.168-16G>A||||||,A|upstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000447919|processed_transcript||n.-1G>A|||||4899|,A|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000467664|retained_intron||n.*593G>A|||||1291|,A|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000248901|protein_coding|3/12|c.168-16G>A||||||,A|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000457992|protein_coding|4/5|c.168-16G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000402997|protein_coding|3/6|c.168-16G>A||||||,A|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000405206|protein_coding|3/6|c.168-16G>A||||||,A|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000469886|retained_intron|3/4|n.223-16G>A||||||,A|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000462927|retained_intron|3/12|n.213-16G>A||||||,A|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000480510|retained_intron|3/3|n.211-16G>A||||||,A|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000439667|processed_transcript|3/7|n.207-16G>A|||||| 22 37692092 . A G . . ANN=G|missense_variant|MODERATE|CYTH4|ENSG00000100055|transcript|ENST00000248901|protein_coding|4/13|c.220A>G|p.Met74Val|407/3202|220/1185|74/394||,G|missense_variant|MODERATE|CYTH4|ENSG00000100055|transcript|ENST00000457992|protein_coding|5/6|c.220A>G|p.Met74Val|519/652|220/353|74/116||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|CYTH4|ENSG00000100055|transcript|ENST00000402997|protein_coding|4/7|c.220A>G|p.Met74Val|315/633|220/465|74/154||,G|missense_variant|MODERATE|CYTH4|ENSG00000100055|transcript|ENST00000405206|protein_coding|4/7|c.220A>G|p.Met74Val|303/636|220/474|74/157||,G|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|9/13|c.220A>G||||||,G|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|4/13|c.220A>G||||||,G|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|6/13|c.220A>G||||||,G|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|7/13|c.220A>G||||||,G|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|3/13|c.220A>G||||||,G|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|5/13|c.220A>G||||||,G|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|8/13|c.220A>G||||||,G|upstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000447919|processed_transcript||n.-1A>G|||||4831|,G|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000467664|retained_intron||n.*593A>G|||||1359|,G|non_coding_exon_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000469886|retained_intron|4/5|n.275A>G||||||,G|non_coding_exon_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000462927|retained_intron|4/13|n.265A>G||||||,G|non_coding_exon_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000480510|retained_intron|4/4|n.263A>G||||||,G|non_coding_exon_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000439667|processed_transcript|4/8|n.259A>G|||||| 22 37692120 . G A . . ANN=A|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|9/13|c.234+14G>A||||||,A|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|4/13|c.234+14G>A||||||,A|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|6/13|c.234+14G>A||||||,A|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|7/13|c.234+14G>A||||||,A|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|3/13|c.234+14G>A||||||,A|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|5/13|c.234+14G>A||||||,A|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|8/13|c.234+14G>A||||||,A|upstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000447919|processed_transcript||n.-1G>A|||||4803|,A|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000467664|retained_intron||n.*593G>A|||||1387|,A|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000248901|protein_coding|4/12|c.234+14G>A||||||,A|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000457992|protein_coding|5/5|c.234+14G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000402997|protein_coding|4/6|c.234+14G>A||||||,A|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000405206|protein_coding|4/6|c.234+14G>A||||||,A|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000469886|retained_intron|4/4|n.289+14G>A||||||,A|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000462927|retained_intron|4/12|n.279+14G>A||||||,A|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000439667|processed_transcript|4/7|n.273+14G>A||||||,A|non_coding_exon_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000480510|retained_intron|4/4|n.291G>A|||||| 22 37693632 . C T . . ANN=T|synonymous_variant|LOW|CYTH4|ENSG00000100055|transcript|ENST00000248901|protein_coding|5/13|c.262C>T|p.Leu88Leu|449/3202|262/1185|88/394||,T|synonymous_variant|LOW|CYTH4|ENSG00000100055|transcript|ENST00000457992|protein_coding|6/6|c.262C>T|p.Leu88Leu|561/652|262/353|88/116||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|CYTH4|ENSG00000100055|transcript|ENST00000402997|protein_coding|5/7|c.262C>T|p.Leu88Leu|357/633|262/465|88/154||,T|synonymous_variant|LOW|CYTH4|ENSG00000100055|transcript|ENST00000405206|protein_coding|5/7|c.262C>T|p.Leu88Leu|345/636|262/474|88/157||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|9/13|c.262C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|4/13|c.262C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|6/13|c.262C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|7/13|c.262C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|3/13|c.262C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|5/13|c.262C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|8/13|c.262C>T||||||,T|upstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000447919|processed_transcript||n.-1C>T|||||3291|,T|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000480510|retained_intron||n.*815C>T|||||988|,T|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000467664|retained_intron||n.*593C>T|||||2899|,T|non_coding_exon_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000469886|retained_intron|5/5|n.317C>T||||||,T|non_coding_exon_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000462927|retained_intron|5/13|n.307C>T||||||,T|non_coding_exon_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000439667|processed_transcript|5/8|n.301C>T|||||| 22 37693646 . C T . . ANN=T|synonymous_variant|LOW|CYTH4|ENSG00000100055|transcript|ENST00000248901|protein_coding|5/13|c.276C>T|p.Asp92Asp|463/3202|276/1185|92/394||,T|synonymous_variant|LOW|CYTH4|ENSG00000100055|transcript|ENST00000457992|protein_coding|6/6|c.276C>T|p.Asp92Asp|575/652|276/353|92/116||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|CYTH4|ENSG00000100055|transcript|ENST00000402997|protein_coding|5/7|c.276C>T|p.Asp92Asp|371/633|276/465|92/154||,T|synonymous_variant|LOW|CYTH4|ENSG00000100055|transcript|ENST00000405206|protein_coding|5/7|c.276C>T|p.Asp92Asp|359/636|276/474|92/157||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|9/13|c.276C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|4/13|c.276C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|6/13|c.276C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|7/13|c.276C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|3/13|c.276C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|5/13|c.276C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|8/13|c.276C>T||||||,T|upstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000447919|processed_transcript||n.-1C>T|||||3277|,T|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000480510|retained_intron||n.*815C>T|||||1002|,T|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000467664|retained_intron||n.*593C>T|||||2913|,T|non_coding_exon_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000469886|retained_intron|5/5|n.331C>T||||||,T|non_coding_exon_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000462927|retained_intron|5/13|n.321C>T||||||,T|non_coding_exon_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000439667|processed_transcript|5/8|n.315C>T|||||| 22 37693689 . A C . . ANN=C|missense_variant|MODERATE|CYTH4|ENSG00000100055|transcript|ENST00000248901|protein_coding|5/13|c.319A>C|p.Asn107His|506/3202|319/1185|107/394||,C|missense_variant|MODERATE|CYTH4|ENSG00000100055|transcript|ENST00000457992|protein_coding|6/6|c.319A>C|p.Asn107His|618/652|319/353|107/116||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|CYTH4|ENSG00000100055|transcript|ENST00000402997|protein_coding|5/7|c.319A>C|p.Asn107His|414/633|319/465|107/154||,C|missense_variant|MODERATE|CYTH4|ENSG00000100055|transcript|ENST00000405206|protein_coding|5/7|c.319A>C|p.Asn107His|402/636|319/474|107/157||,C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|9/13|c.319A>C||||||,C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|4/13|c.319A>C||||||,C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|6/13|c.319A>C||||||,C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|7/13|c.319A>C||||||,C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|3/13|c.319A>C||||||,C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|5/13|c.319A>C||||||,C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|8/13|c.319A>C||||||,C|upstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000447919|processed_transcript||n.-1A>C|||||3234|,C|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000480510|retained_intron||n.*815A>C|||||1045|,C|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000467664|retained_intron||n.*593A>C|||||2956|,C|non_coding_exon_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000469886|retained_intron|5/5|n.374A>C||||||,C|non_coding_exon_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000462927|retained_intron|5/13|n.364A>C||||||,C|non_coding_exon_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000439667|processed_transcript|5/8|n.358A>C|||||| 22 37693732 . G A . . ANN=A|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|9/13|c.353+9G>A||||||,A|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|4/13|c.353+9G>A||||||,A|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|6/13|c.353+9G>A||||||,A|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|7/13|c.353+9G>A||||||,A|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|3/13|c.353+9G>A||||||,A|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|5/13|c.353+9G>A||||||,A|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|8/13|c.353+9G>A||||||,A|upstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000447919|processed_transcript||n.-1G>A|||||3191|,A|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000457992|protein_coding||c.*652G>A|||||9|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000480510|retained_intron||n.*815G>A|||||1088|,A|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000467664|retained_intron||n.*593G>A|||||2999|,A|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000248901|protein_coding|5/12|c.353+9G>A||||||,A|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000402997|protein_coding|5/6|c.353+9G>A||||||,A|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000405206|protein_coding|5/6|c.353+9G>A||||||,A|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000462927|retained_intron|5/12|n.398+9G>A||||||,A|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000439667|processed_transcript|5/7|n.392+9G>A||||||,A|non_coding_exon_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000469886|retained_intron|5/5|n.417G>A|||||| 22 37693760 . A C . . ANN=C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|9/13|c.353+37A>C||||||,C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|4/13|c.353+37A>C||||||,C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|6/13|c.353+37A>C||||||,C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|7/13|c.353+37A>C||||||,C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|3/13|c.353+37A>C||||||,C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|5/13|c.353+37A>C||||||,C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|8/13|c.353+37A>C||||||,C|upstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000447919|processed_transcript||n.-1A>C|||||3163|,C|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000457992|protein_coding||c.*652A>C|||||37|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000480510|retained_intron||n.*815A>C|||||1116|,C|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000467664|retained_intron||n.*593A>C|||||3027|,C|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000248901|protein_coding|5/12|c.353+37A>C||||||,C|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000402997|protein_coding|5/6|c.353+37A>C||||||,C|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000405206|protein_coding|5/6|c.353+37A>C||||||,C|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000462927|retained_intron|5/12|n.398+37A>C||||||,C|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000439667|processed_transcript|5/7|n.392+37A>C||||||,C|non_coding_exon_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000469886|retained_intron|5/5|n.445A>C|||||| 22 37693761 . A C . . ANN=C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|9/13|c.353+38A>C||||||,C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|4/13|c.353+38A>C||||||,C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|6/13|c.353+38A>C||||||,C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|7/13|c.353+38A>C||||||,C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|3/13|c.353+38A>C||||||,C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|5/13|c.353+38A>C||||||,C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|8/13|c.353+38A>C||||||,C|upstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000447919|processed_transcript||n.-1A>C|||||3162|,C|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000457992|protein_coding||c.*652A>C|||||38|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000480510|retained_intron||n.*815A>C|||||1117|,C|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000467664|retained_intron||n.*593A>C|||||3028|,C|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000248901|protein_coding|5/12|c.353+38A>C||||||,C|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000402997|protein_coding|5/6|c.353+38A>C||||||,C|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000405206|protein_coding|5/6|c.353+38A>C||||||,C|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000462927|retained_intron|5/12|n.398+38A>C||||||,C|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000439667|processed_transcript|5/7|n.392+38A>C||||||,C|non_coding_exon_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000469886|retained_intron|5/5|n.446A>C|||||| 22 37695256 . T C . . ANN=C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|9/13|c.354-11T>C||||||,C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|4/13|c.354-11T>C||||||,C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|6/13|c.354-11T>C||||||,C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|7/13|c.354-11T>C||||||,C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|3/13|c.354-11T>C||||||,C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|5/13|c.354-11T>C||||||,C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|8/13|c.354-11T>C||||||,C|upstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000447919|processed_transcript||n.-1T>C|||||1667|,C|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000457992|protein_coding||c.*652T>C|||||1533|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000469886|retained_intron||n.*1128T>C|||||813|,C|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000480510|retained_intron||n.*815T>C|||||2612|,C|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000467664|retained_intron||n.*593T>C|||||4523|,C|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000248901|protein_coding|5/12|c.354-11T>C||||||,C|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000402997|protein_coding|5/6|c.354-11T>C||||||,C|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000405206|protein_coding|5/6|c.354-11T>C||||||,C|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000462927|retained_intron|5/12|n.399-11T>C||||||,C|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000439667|processed_transcript|5/7|n.393-11T>C|||||| 22 37696906 . G A . . ANN=A|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|9/13|c.435-42G>A||||||,A|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|4/13|c.435-42G>A||||||,A|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|6/13|c.435-42G>A||||||,A|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|7/13|c.435-42G>A||||||,A|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|3/13|c.435-42G>A||||||,A|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|5/13|c.435-42G>A||||||,A|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|8/13|c.435-42G>A||||||,A|upstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000447919|processed_transcript||n.-1G>A|||||17|,A|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000457992|protein_coding||c.*652G>A|||||3183|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000402997|protein_coding||c.*560G>A|||||692|,A|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000405206|protein_coding||c.*557G>A|||||594|,A|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000469886|retained_intron||n.*1128G>A|||||2463|,A|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000480510|retained_intron||n.*815G>A|||||4262|,A|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000248901|protein_coding|6/12|c.435-42G>A||||||,A|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000462927|retained_intron|6/12|n.480-42G>A||||||,A|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000439667|processed_transcript|6/7|n.474-42G>A|||||| 22 37696927 . G A . . ANN=A|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|9/13|c.435-21G>A||||||,A|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|4/13|c.435-21G>A||||||,A|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|6/13|c.435-21G>A||||||,A|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|7/13|c.435-21G>A||||||,A|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|3/13|c.435-21G>A||||||,A|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|5/13|c.435-21G>A||||||,A|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|8/13|c.435-21G>A||||||,A|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000457992|protein_coding||c.*652G>A|||||3204|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000402997|protein_coding||c.*560G>A|||||713|,A|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000405206|protein_coding||c.*557G>A|||||615|,A|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000469886|retained_intron||n.*1128G>A|||||2484|,A|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000480510|retained_intron||n.*815G>A|||||4283|,A|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000248901|protein_coding|6/12|c.435-21G>A||||||,A|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000462927|retained_intron|6/12|n.480-21G>A||||||,A|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000439667|processed_transcript|6/7|n.474-21G>A||||||,A|non_coding_exon_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000447919|processed_transcript|1/3|n.5G>A|||||| 22 37696934 . C T . . ANN=T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|9/13|c.435-14C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|4/13|c.435-14C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|6/13|c.435-14C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|7/13|c.435-14C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|3/13|c.435-14C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|5/13|c.435-14C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|8/13|c.435-14C>T||||||,T|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000457992|protein_coding||c.*652C>T|||||3211|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000402997|protein_coding||c.*560C>T|||||720|,T|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000405206|protein_coding||c.*557C>T|||||622|,T|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000469886|retained_intron||n.*1128C>T|||||2491|,T|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000480510|retained_intron||n.*815C>T|||||4290|,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000248901|protein_coding|6/12|c.435-14C>T||||||,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000462927|retained_intron|6/12|n.480-14C>T||||||,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000439667|processed_transcript|6/7|n.474-14C>T||||||,T|non_coding_exon_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000447919|processed_transcript|1/3|n.12C>T|||||| 22 37696978 . C T . . ANN=T|synonymous_variant|LOW|CYTH4|ENSG00000100055|transcript|ENST00000248901|protein_coding|7/13|c.465C>T|p.Gly155Gly|652/3202|465/1185|155/394||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|9/13|c.465C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|4/13|c.465C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|6/13|c.465C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|7/13|c.465C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|3/13|c.465C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|5/13|c.465C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|8/13|c.465C>T||||||,T|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000457992|protein_coding||c.*652C>T|||||3255|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000402997|protein_coding||c.*560C>T|||||764|,T|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000405206|protein_coding||c.*557C>T|||||666|,T|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000469886|retained_intron||n.*1128C>T|||||2535|,T|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000480510|retained_intron||n.*815C>T|||||4334|,T|non_coding_exon_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000462927|retained_intron|7/13|n.510C>T||||||,T|non_coding_exon_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000439667|processed_transcript|7/8|n.504C>T||||||,T|non_coding_exon_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000447919|processed_transcript|1/3|n.56C>T|||||| 22 37697110 . C T . . ANN=T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|9/13|c.547+50C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|4/13|c.547+50C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|6/13|c.547+50C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|7/13|c.547+50C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|3/13|c.547+50C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|5/13|c.547+50C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|8/13|c.547+50C>T||||||,T|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000457992|protein_coding||c.*652C>T|||||3387|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000402997|protein_coding||c.*560C>T|||||896|,T|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000405206|protein_coding||c.*557C>T|||||798|,T|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000469886|retained_intron||n.*1128C>T|||||2667|,T|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000480510|retained_intron||n.*815C>T|||||4466|,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000248901|protein_coding|7/12|c.547+50C>T||||||,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000462927|retained_intron|7/12|n.592+50C>T||||||,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000439667|processed_transcript|7/7|n.586+50C>T||||||,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000447919|processed_transcript|1/2|n.138+50C>T|||||| 22 37699262 . G C . . ANN=C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|9/13|c.548-33G>C||||||,C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|4/13|c.548-33G>C||||||,C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|6/13|c.548-33G>C||||||,C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|7/13|c.548-33G>C||||||,C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|3/13|c.548-33G>C||||||,C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|5/13|c.548-33G>C||||||,C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|8/13|c.548-33G>C||||||,C|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000402997|protein_coding||c.*560G>C|||||3048|,C|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000405206|protein_coding||c.*557G>C|||||2950|,C|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000469886|retained_intron||n.*1128G>C|||||4819|,C|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000439667|processed_transcript||n.*725G>C|||||1202|,C|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000248901|protein_coding|7/12|c.548-33G>C||||||,C|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000462927|retained_intron|7/12|n.593-33G>C||||||,C|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000447919|processed_transcript|2/2|n.236-33G>C|||||| 22 37699279 . G A . . ANN=A|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|9/13|c.548-16G>A||||||,A|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|4/13|c.548-16G>A||||||,A|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|6/13|c.548-16G>A||||||,A|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|7/13|c.548-16G>A||||||,A|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|3/13|c.548-16G>A||||||,A|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|5/13|c.548-16G>A||||||,A|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|8/13|c.548-16G>A||||||,A|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000402997|protein_coding||c.*560G>A|||||3065|,A|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000405206|protein_coding||c.*557G>A|||||2967|,A|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000469886|retained_intron||n.*1128G>A|||||4836|,A|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000439667|processed_transcript||n.*725G>A|||||1219|,A|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000248901|protein_coding|7/12|c.548-16G>A||||||,A|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000462927|retained_intron|7/12|n.593-16G>A||||||,A|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000447919|processed_transcript|2/2|n.236-16G>A|||||| 22 37699323 . C T . . ANN=T|synonymous_variant|LOW|CYTH4|ENSG00000100055|transcript|ENST00000248901|protein_coding|8/13|c.576C>T|p.Ile192Ile|763/3202|576/1185|192/394||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|9/13|c.576C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|4/13|c.576C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|6/13|c.576C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|7/13|c.576C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|3/13|c.576C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|5/13|c.576C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|8/13|c.576C>T||||||,T|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000402997|protein_coding||c.*560C>T|||||3109|,T|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000405206|protein_coding||c.*557C>T|||||3011|,T|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000469886|retained_intron||n.*1128C>T|||||4880|,T|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000439667|processed_transcript||n.*725C>T|||||1263|,T|non_coding_exon_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000462927|retained_intron|8/13|n.621C>T||||||,T|non_coding_exon_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000447919|processed_transcript|3/3|n.264C>T|||||| 22 37699377 . T C . . ANN=C|synonymous_variant|LOW|CYTH4|ENSG00000100055|transcript|ENST00000248901|protein_coding|8/13|c.630T>C|p.Phe210Phe|817/3202|630/1185|210/394||,C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|9/13|c.630T>C||||||,C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|4/13|c.630T>C||||||,C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|6/13|c.630T>C||||||,C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|7/13|c.630T>C||||||,C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|3/13|c.630T>C||||||,C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|5/13|c.630T>C||||||,C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|8/13|c.630T>C||||||,C|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000402997|protein_coding||c.*560T>C|||||3163|,C|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000405206|protein_coding||c.*557T>C|||||3065|,C|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000469886|retained_intron||n.*1128T>C|||||4934|,C|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000439667|processed_transcript||n.*725T>C|||||1317|,C|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000447919|processed_transcript||n.*277T>C|||||41|,C|non_coding_exon_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000462927|retained_intron|8/13|n.675T>C|||||| 22 37699476 . C T . . ANN=T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|9/13|c.696+33C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|4/13|c.696+33C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|6/13|c.696+33C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|7/13|c.696+33C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|3/13|c.696+33C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|5/13|c.696+33C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|8/13|c.696+33C>T||||||,T|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000402997|protein_coding||c.*560C>T|||||3262|,T|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000405206|protein_coding||c.*557C>T|||||3164|,T|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000439667|processed_transcript||n.*725C>T|||||1416|,T|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000447919|processed_transcript||n.*277C>T|||||140|,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000248901|protein_coding|8/12|c.696+33C>T||||||,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000462927|retained_intron|8/12|n.741+33C>T|||||| 22 37705228 . C T . . ANN=T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|9/13|c.697-25C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|4/13|c.697-25C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|6/13|c.697-25C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|7/13|c.697-25C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|3/13|c.697-25C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|5/13|c.697-25C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|8/13|c.697-25C>T||||||,T|upstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000446506|protein_coding||c.-2C>T|||||781|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000248901|protein_coding|8/12|c.697-25C>T||||||,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000462927|retained_intron|9/12|n.857-25C>T|||||| 22 37705409 . C T . . ANN=T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:PH|ENST00000248901|protein_coding|9/13|c.808+45C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:PH|ENST00000248901|protein_coding|11/13|c.808+45C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:PH|ENST00000248901|protein_coding|13/13|c.808+45C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:PH|ENST00000248901|protein_coding|10/13|c.808+45C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:PH|ENST00000248901|protein_coding|12/13|c.808+45C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|region_of_interest:Phosphatidylinositol_3_4_5-trisphosphate_binding|ENST00000248901|protein_coding|9/13|c.808+45C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|region_of_interest:Phosphatidylinositol_3_4_5-trisphosphate_binding|ENST00000248901|protein_coding|10/13|c.808+45C>T||||||,T|upstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000446506|protein_coding||c.-2C>T|||||600|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000248901|protein_coding|9/12|c.808+45C>T||||||,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000462927|retained_intron|10/12|n.968+45C>T|||||| 22 37707024 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|CYTH4|ENSG00000100055|transcript|ENST00000248901|protein_coding|9/12|c.809-5C>T||||||,T|splice_region_variant&intron_variant|LOW|CYTH4|ENSG00000100055|transcript|ENST00000462927|retained_intron|10/12|n.969-5C>T||||||,T|splice_region_variant&intron_variant|LOW|CYTH4|ENSG00000100055|transcript|ENST00000446506|protein_coding|1/4|c.65-5C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:PH|ENST00000248901|protein_coding|9/13|c.809-5C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:PH|ENST00000248901|protein_coding|11/13|c.809-5C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:PH|ENST00000248901|protein_coding|13/13|c.809-5C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:PH|ENST00000248901|protein_coding|10/13|c.809-5C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:PH|ENST00000248901|protein_coding|12/13|c.809-5C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|region_of_interest:Phosphatidylinositol_3_4_5-trisphosphate_binding|ENST00000248901|protein_coding|9/13|c.809-5C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|region_of_interest:Phosphatidylinositol_3_4_5-trisphosphate_binding|ENST00000248901|protein_coding|10/13|c.809-5C>T|||||| 22 37707072 . C T . . ANN=T|synonymous_variant|LOW|CYTH4|ENSG00000100055|transcript|ENST00000248901|protein_coding|10/13|c.852C>T|p.Thr284Thr|1039/3202|852/1185|284/394||,T|synonymous_variant|LOW|CYTH4|ENSG00000100055|transcript|ENST00000446506|protein_coding|2/5|c.108C>T|p.Thr36Thr|109/569|108/441|36/146||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:PH|ENST00000248901|protein_coding|9/13|c.852C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:PH|ENST00000248901|protein_coding|11/13|c.852C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:PH|ENST00000248901|protein_coding|13/13|c.852C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:PH|ENST00000248901|protein_coding|10/13|c.852C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:PH|ENST00000248901|protein_coding|12/13|c.852C>T||||||,T|non_coding_exon_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000462927|retained_intron|11/13|n.1012C>T|||||| 22 37707122 . T C . . ANN=C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:PH|ENST00000248901|protein_coding|9/13|c.885+17T>C||||||,C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:PH|ENST00000248901|protein_coding|11/13|c.885+17T>C||||||,C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:PH|ENST00000248901|protein_coding|13/13|c.885+17T>C||||||,C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:PH|ENST00000248901|protein_coding|10/13|c.885+17T>C||||||,C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:PH|ENST00000248901|protein_coding|12/13|c.885+17T>C||||||,C|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000248901|protein_coding|10/12|c.885+17T>C||||||,C|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000462927|retained_intron|11/12|n.1045+17T>C||||||,C|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000446506|protein_coding|2/4|c.141+17T>C||||||WARNING_TRANSCRIPT_NO_START_CODON 22 37707138 . C T . . ANN=T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:PH|ENST00000248901|protein_coding|9/13|c.885+33C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:PH|ENST00000248901|protein_coding|11/13|c.885+33C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:PH|ENST00000248901|protein_coding|13/13|c.885+33C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:PH|ENST00000248901|protein_coding|10/13|c.885+33C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:PH|ENST00000248901|protein_coding|12/13|c.885+33C>T||||||,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000248901|protein_coding|10/12|c.885+33C>T||||||,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000462927|retained_intron|11/12|n.1045+33C>T||||||,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000446506|protein_coding|2/4|c.141+33C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 37707140 . C T . . ANN=T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:PH|ENST00000248901|protein_coding|9/13|c.885+35C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:PH|ENST00000248901|protein_coding|11/13|c.885+35C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:PH|ENST00000248901|protein_coding|13/13|c.885+35C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:PH|ENST00000248901|protein_coding|10/13|c.885+35C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:PH|ENST00000248901|protein_coding|12/13|c.885+35C>T||||||,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000248901|protein_coding|10/12|c.885+35C>T||||||,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000462927|retained_intron|11/12|n.1045+35C>T||||||,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000446506|protein_coding|2/4|c.141+35C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 37707145 . C T . . ANN=T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:PH|ENST00000248901|protein_coding|9/13|c.885+40C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:PH|ENST00000248901|protein_coding|11/13|c.885+40C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:PH|ENST00000248901|protein_coding|13/13|c.885+40C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:PH|ENST00000248901|protein_coding|10/13|c.885+40C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:PH|ENST00000248901|protein_coding|12/13|c.885+40C>T||||||,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000248901|protein_coding|10/12|c.885+40C>T||||||,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000462927|retained_intron|11/12|n.1045+40C>T||||||,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000446506|protein_coding|2/4|c.141+40C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 37707458 . C T . . ANN=T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:PH|ENST00000248901|protein_coding|9/13|c.886-39C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:PH|ENST00000248901|protein_coding|11/13|c.886-39C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:PH|ENST00000248901|protein_coding|13/13|c.886-39C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:PH|ENST00000248901|protein_coding|10/13|c.886-39C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:PH|ENST00000248901|protein_coding|12/13|c.886-39C>T||||||,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000248901|protein_coding|10/12|c.886-39C>T||||||,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000462927|retained_intron|11/12|n.1046-39C>T||||||,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000446506|protein_coding|2/4|c.142-39C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 37707488 . T C . . ANN=C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:PH|ENST00000248901|protein_coding|9/13|c.886-9T>C||||||,C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:PH|ENST00000248901|protein_coding|11/13|c.886-9T>C||||||,C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:PH|ENST00000248901|protein_coding|13/13|c.886-9T>C||||||,C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:PH|ENST00000248901|protein_coding|10/13|c.886-9T>C||||||,C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:PH|ENST00000248901|protein_coding|12/13|c.886-9T>C||||||,C|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000248901|protein_coding|10/12|c.886-9T>C||||||,C|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000462927|retained_intron|11/12|n.1046-9T>C||||||,C|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000446506|protein_coding|2/4|c.142-9T>C||||||WARNING_TRANSCRIPT_NO_START_CODON 22 37709438 . C T . . ANN=T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:PH|ENST00000248901|protein_coding|9/13|c.1113-42C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:PH|ENST00000248901|protein_coding|11/13|c.1113-42C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:PH|ENST00000248901|protein_coding|13/13|c.1113-42C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:PH|ENST00000248901|protein_coding|10/13|c.1113-42C>T||||||,T|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:PH|ENST00000248901|protein_coding|12/13|c.1113-42C>T||||||,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000248901|protein_coding|12/12|c.1113-42C>T||||||,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000462927|retained_intron|12/12|n.1765-42C>T||||||,T|intron_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000446506|protein_coding|4/4|c.369-42C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 37709536 . T C . . ANN=C|missense_variant|MODERATE|CYTH4|ENSG00000100055|transcript|ENST00000248901|protein_coding|13/13|c.1169T>C|p.Ile390Thr|1356/3202|1169/1185|390/394||,C|missense_variant|MODERATE|CYTH4|ENSG00000100055|transcript|ENST00000446506|protein_coding|5/5|c.425T>C|p.Ile142Thr|426/569|425/441|142/146||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|CYTH4|ENSG00000100055|region_of_interest:C-terminal_autoinhibitory_region|ENST00000248901|protein_coding|13/13|c.1169T>C||||||,C|non_coding_exon_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000462927|retained_intron|13/13|n.1821T>C|||||| 22 37709572 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000248901|protein_coding|13/13|c.*20G>A|||||20|,A|3_prime_UTR_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000446506|protein_coding|5/5|c.*20G>A|||||20|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000462927|retained_intron|13/13|n.1857G>A|||||| 22 37769130 . G A . . ANN=A|synonymous_variant|LOW|ELFN2|ENSG00000166897|transcript|ENST00000402918|protein_coding|3/3|c.2445C>T|p.Ser815Ser|3231/8361|2445/2463|815/820||,A|sequence_feature|LOW|ELFN2|ENSG00000166897|topological_domain:Cytoplasmic|ENST00000402918|protein_coding|3/3|c.2445C>T||||||,A|downstream_gene_variant|MODIFIER|RP1-63G5.8|ENSG00000272694|transcript|ENST00000609322|antisense||n.*910G>A|||||232|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000414347|processed_transcript||n.*532C>T|||||2615|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000424973|processed_transcript||n.*481C>T|||||2615|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000435824|processed_transcript||n.*579C>T|||||2641|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000451509|processed_transcript||n.*517C>T|||||2673|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000415408|processed_transcript||n.*558C>T|||||2673|,A|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000430883|sense_overlapping|1/2|n.434+11760C>T||||||,A|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000452946|sense_overlapping|1/2|n.149-30386C>T|||||| 22 37769205 . G A . . ANN=A|synonymous_variant|LOW|ELFN2|ENSG00000166897|transcript|ENST00000402918|protein_coding|3/3|c.2370C>T|p.His790His|3156/8361|2370/2463|790/820||,A|sequence_feature|LOW|ELFN2|ENSG00000166897|topological_domain:Cytoplasmic|ENST00000402918|protein_coding|3/3|c.2370C>T||||||,A|downstream_gene_variant|MODIFIER|RP1-63G5.8|ENSG00000272694|transcript|ENST00000609322|antisense||n.*910G>A|||||307|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000414347|processed_transcript||n.*532C>T|||||2540|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000424973|processed_transcript||n.*481C>T|||||2540|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000435824|processed_transcript||n.*579C>T|||||2566|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000451509|processed_transcript||n.*517C>T|||||2598|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000415408|processed_transcript||n.*558C>T|||||2598|,A|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000430883|sense_overlapping|1/2|n.434+11685C>T||||||,A|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000452946|sense_overlapping|1/2|n.149-30461C>T|||||| 22 37769211 . G A . . ANN=A|synonymous_variant|LOW|ELFN2|ENSG00000166897|transcript|ENST00000402918|protein_coding|3/3|c.2364C>T|p.Ala788Ala|3150/8361|2364/2463|788/820||,A|sequence_feature|LOW|ELFN2|ENSG00000166897|topological_domain:Cytoplasmic|ENST00000402918|protein_coding|3/3|c.2364C>T||||||,A|downstream_gene_variant|MODIFIER|RP1-63G5.8|ENSG00000272694|transcript|ENST00000609322|antisense||n.*910G>A|||||313|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000414347|processed_transcript||n.*532C>T|||||2534|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000424973|processed_transcript||n.*481C>T|||||2534|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000435824|processed_transcript||n.*579C>T|||||2560|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000451509|processed_transcript||n.*517C>T|||||2592|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000415408|processed_transcript||n.*558C>T|||||2592|,A|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000430883|sense_overlapping|1/2|n.434+11679C>T||||||,A|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000452946|sense_overlapping|1/2|n.149-30467C>T|||||| 22 37769298 . G A . . ANN=A|synonymous_variant|LOW|ELFN2|ENSG00000166897|transcript|ENST00000402918|protein_coding|3/3|c.2277C>T|p.Pro759Pro|3063/8361|2277/2463|759/820||,A|sequence_feature|LOW|ELFN2|ENSG00000166897|topological_domain:Cytoplasmic|ENST00000402918|protein_coding|3/3|c.2277C>T||||||,A|downstream_gene_variant|MODIFIER|RP1-63G5.8|ENSG00000272694|transcript|ENST00000609322|antisense||n.*910G>A|||||400|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000414347|processed_transcript||n.*532C>T|||||2447|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000424973|processed_transcript||n.*481C>T|||||2447|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000435824|processed_transcript||n.*579C>T|||||2473|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000451509|processed_transcript||n.*517C>T|||||2505|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000415408|processed_transcript||n.*558C>T|||||2505|,A|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000430883|sense_overlapping|1/2|n.434+11592C>T||||||,A|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000452946|sense_overlapping|1/2|n.149-30554C>T|||||| 22 37769342 . G A . . ANN=A|stop_gained|HIGH|ELFN2|ENSG00000166897|transcript|ENST00000402918|protein_coding|3/3|c.2233C>T|p.Gln745*|3019/8361|2233/2463|745/820||,A|sequence_feature|LOW|ELFN2|ENSG00000166897|topological_domain:Cytoplasmic|ENST00000402918|protein_coding|3/3|c.2233C>T||||||,A|downstream_gene_variant|MODIFIER|RP1-63G5.8|ENSG00000272694|transcript|ENST00000609322|antisense||n.*910G>A|||||444|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000414347|processed_transcript||n.*532C>T|||||2403|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000424973|processed_transcript||n.*481C>T|||||2403|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000435824|processed_transcript||n.*579C>T|||||2429|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000451509|processed_transcript||n.*517C>T|||||2461|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000415408|processed_transcript||n.*558C>T|||||2461|,A|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000430883|sense_overlapping|1/2|n.434+11548C>T||||||,A|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000452946|sense_overlapping|1/2|n.149-30598C>T|||||| 22 37769393 . C T . . ANN=T|missense_variant|MODERATE|ELFN2|ENSG00000166897|transcript|ENST00000402918|protein_coding|3/3|c.2182G>A|p.Val728Met|2968/8361|2182/2463|728/820||,T|sequence_feature|LOW|ELFN2|ENSG00000166897|topological_domain:Cytoplasmic|ENST00000402918|protein_coding|3/3|c.2182G>A||||||,T|downstream_gene_variant|MODIFIER|RP1-63G5.8|ENSG00000272694|transcript|ENST00000609322|antisense||n.*910C>T|||||495|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000414347|processed_transcript||n.*532G>A|||||2352|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000424973|processed_transcript||n.*481G>A|||||2352|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000435824|processed_transcript||n.*579G>A|||||2378|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000451509|processed_transcript||n.*517G>A|||||2410|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000415408|processed_transcript||n.*558G>A|||||2410|,T|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000430883|sense_overlapping|1/2|n.434+11497G>A||||||,T|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000452946|sense_overlapping|1/2|n.149-30649G>A|||||| 22 37769662 . T C . . ANN=C|missense_variant|MODERATE|ELFN2|ENSG00000166897|transcript|ENST00000402918|protein_coding|3/3|c.1913A>G|p.Lys638Arg|2699/8361|1913/2463|638/820||,C|sequence_feature|LOW|ELFN2|ENSG00000166897|topological_domain:Cytoplasmic|ENST00000402918|protein_coding|3/3|c.1913A>G||||||,C|downstream_gene_variant|MODIFIER|RP1-63G5.8|ENSG00000272694|transcript|ENST00000609322|antisense||n.*910T>C|||||764|,C|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000414347|processed_transcript||n.*532A>G|||||2083|,C|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000424973|processed_transcript||n.*481A>G|||||2083|,C|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000435824|processed_transcript||n.*579A>G|||||2109|,C|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000451509|processed_transcript||n.*517A>G|||||2141|,C|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000415408|processed_transcript||n.*558A>G|||||2141|,C|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000430883|sense_overlapping|1/2|n.434+11228A>G||||||,C|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000452946|sense_overlapping|1/2|n.149-30918A>G|||||| 22 37769685 . G A . . ANN=A|synonymous_variant|LOW|ELFN2|ENSG00000166897|transcript|ENST00000402918|protein_coding|3/3|c.1890C>T|p.Ser630Ser|2676/8361|1890/2463|630/820||,A|sequence_feature|LOW|ELFN2|ENSG00000166897|topological_domain:Cytoplasmic|ENST00000402918|protein_coding|3/3|c.1890C>T||||||,A|downstream_gene_variant|MODIFIER|RP1-63G5.8|ENSG00000272694|transcript|ENST00000609322|antisense||n.*910G>A|||||787|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000414347|processed_transcript||n.*532C>T|||||2060|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000424973|processed_transcript||n.*481C>T|||||2060|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000435824|processed_transcript||n.*579C>T|||||2086|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000451509|processed_transcript||n.*517C>T|||||2118|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000415408|processed_transcript||n.*558C>T|||||2118|,A|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000430883|sense_overlapping|1/2|n.434+11205C>T||||||,A|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000452946|sense_overlapping|1/2|n.149-30941C>T|||||| 22 37769686 . C T . . ANN=T|missense_variant|MODERATE|ELFN2|ENSG00000166897|transcript|ENST00000402918|protein_coding|3/3|c.1889G>A|p.Ser630Asn|2675/8361|1889/2463|630/820||,T|sequence_feature|LOW|ELFN2|ENSG00000166897|topological_domain:Cytoplasmic|ENST00000402918|protein_coding|3/3|c.1889G>A||||||,T|downstream_gene_variant|MODIFIER|RP1-63G5.8|ENSG00000272694|transcript|ENST00000609322|antisense||n.*910C>T|||||788|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000414347|processed_transcript||n.*532G>A|||||2059|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000424973|processed_transcript||n.*481G>A|||||2059|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000435824|processed_transcript||n.*579G>A|||||2085|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000451509|processed_transcript||n.*517G>A|||||2117|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000415408|processed_transcript||n.*558G>A|||||2117|,T|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000430883|sense_overlapping|1/2|n.434+11204G>A||||||,T|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000452946|sense_overlapping|1/2|n.149-30942G>A|||||| 22 37769712 . G A . . ANN=A|synonymous_variant|LOW|ELFN2|ENSG00000166897|transcript|ENST00000402918|protein_coding|3/3|c.1863C>T|p.Asp621Asp|2649/8361|1863/2463|621/820||,A|sequence_feature|LOW|ELFN2|ENSG00000166897|topological_domain:Cytoplasmic|ENST00000402918|protein_coding|3/3|c.1863C>T||||||,A|downstream_gene_variant|MODIFIER|RP1-63G5.8|ENSG00000272694|transcript|ENST00000609322|antisense||n.*910G>A|||||814|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000414347|processed_transcript||n.*532C>T|||||2033|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000424973|processed_transcript||n.*481C>T|||||2033|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000435824|processed_transcript||n.*579C>T|||||2059|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000451509|processed_transcript||n.*517C>T|||||2091|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000415408|processed_transcript||n.*558C>T|||||2091|,A|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000430883|sense_overlapping|1/2|n.434+11178C>T||||||,A|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000452946|sense_overlapping|1/2|n.149-30968C>T|||||| 22 37769786 . C G . . ANN=G|missense_variant|MODERATE|ELFN2|ENSG00000166897|transcript|ENST00000402918|protein_coding|3/3|c.1789G>C|p.Glu597Gln|2575/8361|1789/2463|597/820||,G|sequence_feature|LOW|ELFN2|ENSG00000166897|topological_domain:Cytoplasmic|ENST00000402918|protein_coding|3/3|c.1789G>C||||||,G|downstream_gene_variant|MODIFIER|RP1-63G5.8|ENSG00000272694|transcript|ENST00000609322|antisense||n.*910C>G|||||888|,G|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000414347|processed_transcript||n.*532G>C|||||1959|,G|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000424973|processed_transcript||n.*481G>C|||||1959|,G|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000435824|processed_transcript||n.*579G>C|||||1985|,G|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000451509|processed_transcript||n.*517G>C|||||2017|,G|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000415408|processed_transcript||n.*558G>C|||||2017|,G|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000430883|sense_overlapping|1/2|n.434+11104G>C||||||,G|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000452946|sense_overlapping|1/2|n.149-31042G>C|||||| 22 37769816 . C A . . ANN=A|missense_variant|MODERATE|ELFN2|ENSG00000166897|transcript|ENST00000402918|protein_coding|3/3|c.1759G>T|p.Ala587Ser|2545/8361|1759/2463|587/820||,A|sequence_feature|LOW|ELFN2|ENSG00000166897|topological_domain:Cytoplasmic|ENST00000402918|protein_coding|3/3|c.1759G>T||||||,A|sequence_feature|LOW|ELFN2|ENSG00000166897|compositionally_biased_region:Poly-Ala|ENST00000402918|protein_coding|3/3|c.1759G>T||||||,A|downstream_gene_variant|MODIFIER|RP1-63G5.8|ENSG00000272694|transcript|ENST00000609322|antisense||n.*910C>A|||||918|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000414347|processed_transcript||n.*532G>T|||||1929|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000424973|processed_transcript||n.*481G>T|||||1929|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000435824|processed_transcript||n.*579G>T|||||1955|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000451509|processed_transcript||n.*517G>T|||||1987|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000415408|processed_transcript||n.*558G>T|||||1987|,A|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000430883|sense_overlapping|1/2|n.434+11074G>T||||||,A|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000452946|sense_overlapping|1/2|n.149-31072G>T|||||| 22 37769880 . G A . . ANN=A|synonymous_variant|LOW|ELFN2|ENSG00000166897|transcript|ENST00000402918|protein_coding|3/3|c.1695C>T|p.Gly565Gly|2481/8361|1695/2463|565/820||,A|sequence_feature|LOW|ELFN2|ENSG00000166897|topological_domain:Cytoplasmic|ENST00000402918|protein_coding|3/3|c.1695C>T||||||,A|downstream_gene_variant|MODIFIER|RP1-63G5.8|ENSG00000272694|transcript|ENST00000609322|antisense||n.*910G>A|||||982|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000414347|processed_transcript||n.*532C>T|||||1865|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000424973|processed_transcript||n.*481C>T|||||1865|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000435824|processed_transcript||n.*579C>T|||||1891|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000451509|processed_transcript||n.*517C>T|||||1923|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000415408|processed_transcript||n.*558C>T|||||1923|,A|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000430883|sense_overlapping|1/2|n.434+11010C>T||||||,A|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000452946|sense_overlapping|1/2|n.149-31136C>T|||||| 22 37770023 . C T . . ANN=T|missense_variant|MODERATE|ELFN2|ENSG00000166897|transcript|ENST00000402918|protein_coding|3/3|c.1552G>A|p.Glu518Lys|2338/8361|1552/2463|518/820||,T|sequence_feature|LOW|ELFN2|ENSG00000166897|topological_domain:Cytoplasmic|ENST00000402918|protein_coding|3/3|c.1552G>A||||||,T|downstream_gene_variant|MODIFIER|RP1-63G5.8|ENSG00000272694|transcript|ENST00000609322|antisense||n.*910C>T|||||1125|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000414347|processed_transcript||n.*532G>A|||||1722|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000424973|processed_transcript||n.*481G>A|||||1722|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000435824|processed_transcript||n.*579G>A|||||1748|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000451509|processed_transcript||n.*517G>A|||||1780|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000415408|processed_transcript||n.*558G>A|||||1780|,T|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000430883|sense_overlapping|1/2|n.434+10867G>A||||||,T|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000452946|sense_overlapping|1/2|n.149-31279G>A|||||| 22 37770044 . C T . . ANN=T|missense_variant|MODERATE|ELFN2|ENSG00000166897|transcript|ENST00000402918|protein_coding|3/3|c.1531G>A|p.Gly511Arg|2317/8361|1531/2463|511/820||,T|sequence_feature|LOW|ELFN2|ENSG00000166897|topological_domain:Cytoplasmic|ENST00000402918|protein_coding|3/3|c.1531G>A||||||,T|downstream_gene_variant|MODIFIER|RP1-63G5.8|ENSG00000272694|transcript|ENST00000609322|antisense||n.*910C>T|||||1146|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000414347|processed_transcript||n.*532G>A|||||1701|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000424973|processed_transcript||n.*481G>A|||||1701|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000435824|processed_transcript||n.*579G>A|||||1727|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000451509|processed_transcript||n.*517G>A|||||1759|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000415408|processed_transcript||n.*558G>A|||||1759|,T|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000430883|sense_overlapping|1/2|n.434+10846G>A||||||,T|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000452946|sense_overlapping|1/2|n.149-31300G>A|||||| 22 37770048 . G A . . ANN=A|synonymous_variant|LOW|ELFN2|ENSG00000166897|transcript|ENST00000402918|protein_coding|3/3|c.1527C>T|p.Ala509Ala|2313/8361|1527/2463|509/820||,A|sequence_feature|LOW|ELFN2|ENSG00000166897|topological_domain:Cytoplasmic|ENST00000402918|protein_coding|3/3|c.1527C>T||||||,A|downstream_gene_variant|MODIFIER|RP1-63G5.8|ENSG00000272694|transcript|ENST00000609322|antisense||n.*910G>A|||||1150|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000414347|processed_transcript||n.*532C>T|||||1697|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000424973|processed_transcript||n.*481C>T|||||1697|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000435824|processed_transcript||n.*579C>T|||||1723|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000451509|processed_transcript||n.*517C>T|||||1755|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000415408|processed_transcript||n.*558C>T|||||1755|,A|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000430883|sense_overlapping|1/2|n.434+10842C>T||||||,A|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000452946|sense_overlapping|1/2|n.149-31304C>T|||||| 22 37770066 . G T . . ANN=T|synonymous_variant|LOW|ELFN2|ENSG00000166897|transcript|ENST00000402918|protein_coding|3/3|c.1509C>A|p.Ile503Ile|2295/8361|1509/2463|503/820||,T|sequence_feature|LOW|ELFN2|ENSG00000166897|topological_domain:Cytoplasmic|ENST00000402918|protein_coding|3/3|c.1509C>A||||||,T|downstream_gene_variant|MODIFIER|RP1-63G5.8|ENSG00000272694|transcript|ENST00000609322|antisense||n.*910G>T|||||1168|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000414347|processed_transcript||n.*532C>A|||||1679|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000424973|processed_transcript||n.*481C>A|||||1679|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000435824|processed_transcript||n.*579C>A|||||1705|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000451509|processed_transcript||n.*517C>A|||||1737|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000415408|processed_transcript||n.*558C>A|||||1737|,T|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000430883|sense_overlapping|1/2|n.434+10824C>A||||||,T|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000452946|sense_overlapping|1/2|n.149-31322C>A|||||| 22 37770108 . G A . . ANN=A|synonymous_variant|LOW|ELFN2|ENSG00000166897|transcript|ENST00000402918|protein_coding|3/3|c.1467C>T|p.Ala489Ala|2253/8361|1467/2463|489/820||,A|sequence_feature|LOW|ELFN2|ENSG00000166897|topological_domain:Cytoplasmic|ENST00000402918|protein_coding|3/3|c.1467C>T||||||,A|downstream_gene_variant|MODIFIER|RP1-63G5.8|ENSG00000272694|transcript|ENST00000609322|antisense||n.*910G>A|||||1210|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000414347|processed_transcript||n.*532C>T|||||1637|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000424973|processed_transcript||n.*481C>T|||||1637|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000435824|processed_transcript||n.*579C>T|||||1663|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000451509|processed_transcript||n.*517C>T|||||1695|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000415408|processed_transcript||n.*558C>T|||||1695|,A|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000430883|sense_overlapping|1/2|n.434+10782C>T||||||,A|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000452946|sense_overlapping|1/2|n.149-31364C>T|||||| 22 37770210 . G A . . ANN=A|synonymous_variant|LOW|ELFN2|ENSG00000166897|transcript|ENST00000402918|protein_coding|3/3|c.1365C>T|p.Ala455Ala|2151/8361|1365/2463|455/820||,A|sequence_feature|LOW|ELFN2|ENSG00000166897|topological_domain:Cytoplasmic|ENST00000402918|protein_coding|3/3|c.1365C>T||||||,A|downstream_gene_variant|MODIFIER|RP1-63G5.8|ENSG00000272694|transcript|ENST00000609322|antisense||n.*910G>A|||||1312|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000414347|processed_transcript||n.*532C>T|||||1535|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000424973|processed_transcript||n.*481C>T|||||1535|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000435824|processed_transcript||n.*579C>T|||||1561|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000451509|processed_transcript||n.*517C>T|||||1593|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000415408|processed_transcript||n.*558C>T|||||1593|,A|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000430883|sense_overlapping|1/2|n.434+10680C>T||||||,A|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000452946|sense_overlapping|1/2|n.149-31466C>T|||||| 22 37770357 . A G . . ANN=G|synonymous_variant|LOW|ELFN2|ENSG00000166897|transcript|ENST00000402918|protein_coding|3/3|c.1218T>C|p.Phe406Phe|2004/8361|1218/2463|406/820||,G|sequence_feature|LOW|ELFN2|ENSG00000166897|transmembrane_region:Transmembrane_region|ENST00000402918|protein_coding|3/3|c.1218T>C||||||,G|downstream_gene_variant|MODIFIER|RP1-63G5.8|ENSG00000272694|transcript|ENST00000609322|antisense||n.*910A>G|||||1459|,G|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000414347|processed_transcript||n.*532T>C|||||1388|,G|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000424973|processed_transcript||n.*481T>C|||||1388|,G|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000435824|processed_transcript||n.*579T>C|||||1414|,G|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000451509|processed_transcript||n.*517T>C|||||1446|,G|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000415408|processed_transcript||n.*558T>C|||||1446|,G|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000430883|sense_overlapping|1/2|n.434+10533T>C||||||,G|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000452946|sense_overlapping|1/2|n.149-31613T>C|||||| 22 37770426 . G A . . ANN=A|synonymous_variant|LOW|ELFN2|ENSG00000166897|transcript|ENST00000402918|protein_coding|3/3|c.1149C>T|p.Val383Val|1935/8361|1149/2463|383/820||,A|sequence_feature|LOW|ELFN2|ENSG00000166897|topological_domain:Extracellular|ENST00000402918|protein_coding|3/3|c.1149C>T||||||,A|downstream_gene_variant|MODIFIER|RP1-63G5.8|ENSG00000272694|transcript|ENST00000609322|antisense||n.*910G>A|||||1528|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000414347|processed_transcript||n.*532C>T|||||1319|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000424973|processed_transcript||n.*481C>T|||||1319|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000435824|processed_transcript||n.*579C>T|||||1345|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000451509|processed_transcript||n.*517C>T|||||1377|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000415408|processed_transcript||n.*558C>T|||||1377|,A|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000430883|sense_overlapping|1/2|n.434+10464C>T||||||,A|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000452946|sense_overlapping|1/2|n.149-31682C>T|||||| 22 37770517 . G A . . ANN=A|missense_variant|MODERATE|ELFN2|ENSG00000166897|transcript|ENST00000402918|protein_coding|3/3|c.1058C>T|p.Ala353Val|1844/8361|1058/2463|353/820||,A|sequence_feature|LOW|ELFN2|ENSG00000166897|topological_domain:Extracellular|ENST00000402918|protein_coding|3/3|c.1058C>T||||||,A|sequence_feature|LOW|ELFN2|ENSG00000166897|domain:Fibronectin_type-III|ENST00000402918|protein_coding|3/3|c.1058C>T||||||,A|downstream_gene_variant|MODIFIER|RP1-63G5.8|ENSG00000272694|transcript|ENST00000609322|antisense||n.*910G>A|||||1619|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000414347|processed_transcript||n.*532C>T|||||1228|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000424973|processed_transcript||n.*481C>T|||||1228|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000435824|processed_transcript||n.*579C>T|||||1254|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000451509|processed_transcript||n.*517C>T|||||1286|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000415408|processed_transcript||n.*558C>T|||||1286|,A|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000430883|sense_overlapping|1/2|n.434+10373C>T||||||,A|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000452946|sense_overlapping|1/2|n.149-31773C>T|||||| 22 37770582 . G A . . ANN=A|synonymous_variant|LOW|ELFN2|ENSG00000166897|transcript|ENST00000402918|protein_coding|3/3|c.993C>T|p.Ser331Ser|1779/8361|993/2463|331/820||,A|sequence_feature|LOW|ELFN2|ENSG00000166897|topological_domain:Extracellular|ENST00000402918|protein_coding|3/3|c.993C>T||||||,A|sequence_feature|LOW|ELFN2|ENSG00000166897|domain:Fibronectin_type-III|ENST00000402918|protein_coding|3/3|c.993C>T||||||,A|downstream_gene_variant|MODIFIER|RP1-63G5.8|ENSG00000272694|transcript|ENST00000609322|antisense||n.*910G>A|||||1684|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000414347|processed_transcript||n.*532C>T|||||1163|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000424973|processed_transcript||n.*481C>T|||||1163|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000435824|processed_transcript||n.*579C>T|||||1189|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000451509|processed_transcript||n.*517C>T|||||1221|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000415408|processed_transcript||n.*558C>T|||||1221|,A|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000430883|sense_overlapping|1/2|n.434+10308C>T||||||,A|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000452946|sense_overlapping|1/2|n.149-31838C>T|||||| 22 37770630 . G A . . ANN=A|synonymous_variant|LOW|ELFN2|ENSG00000166897|transcript|ENST00000402918|protein_coding|3/3|c.945C>T|p.Ile315Ile|1731/8361|945/2463|315/820||,A|sequence_feature|LOW|ELFN2|ENSG00000166897|topological_domain:Extracellular|ENST00000402918|protein_coding|3/3|c.945C>T||||||,A|sequence_feature|LOW|ELFN2|ENSG00000166897|domain:Fibronectin_type-III|ENST00000402918|protein_coding|3/3|c.945C>T||||||,A|downstream_gene_variant|MODIFIER|RP1-63G5.8|ENSG00000272694|transcript|ENST00000609322|antisense||n.*910G>A|||||1732|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000414347|processed_transcript||n.*532C>T|||||1115|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000424973|processed_transcript||n.*481C>T|||||1115|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000435824|processed_transcript||n.*579C>T|||||1141|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000451509|processed_transcript||n.*517C>T|||||1173|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000415408|processed_transcript||n.*558C>T|||||1173|,A|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000430883|sense_overlapping|1/2|n.434+10260C>T||||||,A|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000452946|sense_overlapping|1/2|n.149-31886C>T|||||| 22 37770765 . G A . . ANN=A|synonymous_variant|LOW|ELFN2|ENSG00000166897|transcript|ENST00000402918|protein_coding|3/3|c.810C>T|p.Asp270Asp|1596/8361|810/2463|270/820||,A|sequence_feature|LOW|ELFN2|ENSG00000166897|topological_domain:Extracellular|ENST00000402918|protein_coding|3/3|c.810C>T||||||,A|downstream_gene_variant|MODIFIER|RP1-63G5.8|ENSG00000272694|transcript|ENST00000609322|antisense||n.*910G>A|||||1867|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000414347|processed_transcript||n.*532C>T|||||980|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000424973|processed_transcript||n.*481C>T|||||980|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000435824|processed_transcript||n.*579C>T|||||1006|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000451509|processed_transcript||n.*517C>T|||||1038|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000415408|processed_transcript||n.*558C>T|||||1038|,A|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000430883|sense_overlapping|1/2|n.434+10125C>T||||||,A|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000452946|sense_overlapping|1/2|n.149-32021C>T|||||| 22 37770783 . G A . . ANN=A|synonymous_variant|LOW|ELFN2|ENSG00000166897|transcript|ENST00000402918|protein_coding|3/3|c.792C>T|p.Asp264Asp|1578/8361|792/2463|264/820||,A|sequence_feature|LOW|ELFN2|ENSG00000166897|topological_domain:Extracellular|ENST00000402918|protein_coding|3/3|c.792C>T||||||,A|downstream_gene_variant|MODIFIER|RP1-63G5.8|ENSG00000272694|transcript|ENST00000609322|antisense||n.*910G>A|||||1885|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000414347|processed_transcript||n.*532C>T|||||962|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000424973|processed_transcript||n.*481C>T|||||962|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000435824|processed_transcript||n.*579C>T|||||988|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000451509|processed_transcript||n.*517C>T|||||1020|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000415408|processed_transcript||n.*558C>T|||||1020|,A|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000430883|sense_overlapping|1/2|n.434+10107C>T||||||,A|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000452946|sense_overlapping|1/2|n.149-32039C>T|||||| 22 37770790 . G T . . ANN=T|missense_variant|MODERATE|ELFN2|ENSG00000166897|transcript|ENST00000402918|protein_coding|3/3|c.785C>A|p.Ser262Tyr|1571/8361|785/2463|262/820||,T|sequence_feature|LOW|ELFN2|ENSG00000166897|topological_domain:Extracellular|ENST00000402918|protein_coding|3/3|c.785C>A||||||,T|downstream_gene_variant|MODIFIER|RP1-63G5.8|ENSG00000272694|transcript|ENST00000609322|antisense||n.*910G>T|||||1892|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000414347|processed_transcript||n.*532C>A|||||955|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000424973|processed_transcript||n.*481C>A|||||955|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000435824|processed_transcript||n.*579C>A|||||981|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000451509|processed_transcript||n.*517C>A|||||1013|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000415408|processed_transcript||n.*558C>A|||||1013|,T|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000430883|sense_overlapping|1/2|n.434+10100C>A||||||,T|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000452946|sense_overlapping|1/2|n.149-32046C>A|||||| 22 37770812 . C A,T . . ANN=A|missense_variant|MODERATE|ELFN2|ENSG00000166897|transcript|ENST00000402918|protein_coding|3/3|c.763G>T|p.Val255Leu|1549/8361|763/2463|255/820||,T|missense_variant|MODERATE|ELFN2|ENSG00000166897|transcript|ENST00000402918|protein_coding|3/3|c.763G>A|p.Val255Met|1549/8361|763/2463|255/820||,A|sequence_feature|LOW|ELFN2|ENSG00000166897|topological_domain:Extracellular|ENST00000402918|protein_coding|3/3|c.763G>T||||||,T|sequence_feature|LOW|ELFN2|ENSG00000166897|topological_domain:Extracellular|ENST00000402918|protein_coding|3/3|c.763G>A||||||,A|downstream_gene_variant|MODIFIER|RP1-63G5.8|ENSG00000272694|transcript|ENST00000609322|antisense||n.*910C>A|||||1914|,T|downstream_gene_variant|MODIFIER|RP1-63G5.8|ENSG00000272694|transcript|ENST00000609322|antisense||n.*910C>T|||||1914|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000414347|processed_transcript||n.*532G>T|||||933|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000414347|processed_transcript||n.*532G>A|||||933|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000424973|processed_transcript||n.*481G>T|||||933|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000424973|processed_transcript||n.*481G>A|||||933|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000435824|processed_transcript||n.*579G>T|||||959|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000435824|processed_transcript||n.*579G>A|||||959|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000451509|processed_transcript||n.*517G>T|||||991|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000451509|processed_transcript||n.*517G>A|||||991|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000415408|processed_transcript||n.*558G>T|||||991|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000415408|processed_transcript||n.*558G>A|||||991|,A|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000430883|sense_overlapping|1/2|n.434+10078G>T||||||,T|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000430883|sense_overlapping|1/2|n.434+10078G>A||||||,A|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000452946|sense_overlapping|1/2|n.149-32068G>T||||||,T|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000452946|sense_overlapping|1/2|n.149-32068G>A|||||| 22 37770960 . G A . . ANN=A|sequence_feature|MODERATE|ELFN2|ENSG00000166897|glycosylation_site:N-linked__GlcNAc..._|ENST00000402918|protein_coding|3/3|c.615C>T||||||,A|synonymous_variant|LOW|ELFN2|ENSG00000166897|transcript|ENST00000402918|protein_coding|3/3|c.615C>T|p.Asn205Asn|1401/8361|615/2463|205/820||,A|sequence_feature|LOW|ELFN2|ENSG00000166897|topological_domain:Extracellular|ENST00000402918|protein_coding|3/3|c.615C>T||||||,A|sequence_feature|LOW|ELFN2|ENSG00000166897|domain:LRRCT|ENST00000402918|protein_coding|3/3|c.615C>T||||||,A|downstream_gene_variant|MODIFIER|RP1-63G5.8|ENSG00000272694|transcript|ENST00000609322|antisense||n.*910G>A|||||2062|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000414347|processed_transcript||n.*532C>T|||||785|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000424973|processed_transcript||n.*481C>T|||||785|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000435824|processed_transcript||n.*579C>T|||||811|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000451509|processed_transcript||n.*517C>T|||||843|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000415408|processed_transcript||n.*558C>T|||||843|,A|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000430883|sense_overlapping|1/2|n.434+9930C>T||||||,A|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000452946|sense_overlapping|1/2|n.149-32216C>T|||||| 22 37771002 . G A . . ANN=A|synonymous_variant|LOW|ELFN2|ENSG00000166897|transcript|ENST00000402918|protein_coding|3/3|c.573C>T|p.Cys191Cys|1359/8361|573/2463|191/820||,A|sequence_feature|LOW|ELFN2|ENSG00000166897|topological_domain:Extracellular|ENST00000402918|protein_coding|3/3|c.573C>T||||||,A|sequence_feature|LOW|ELFN2|ENSG00000166897|domain:LRRCT|ENST00000402918|protein_coding|3/3|c.573C>T||||||,A|downstream_gene_variant|MODIFIER|RP1-63G5.8|ENSG00000272694|transcript|ENST00000609322|antisense||n.*910G>A|||||2104|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000414347|processed_transcript||n.*532C>T|||||743|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000424973|processed_transcript||n.*481C>T|||||743|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000435824|processed_transcript||n.*579C>T|||||769|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000451509|processed_transcript||n.*517C>T|||||801|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000415408|processed_transcript||n.*558C>T|||||801|,A|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000430883|sense_overlapping|1/2|n.434+9888C>T||||||,A|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000452946|sense_overlapping|1/2|n.149-32258C>T|||||| 22 37771158 . G A . . ANN=A|synonymous_variant|LOW|ELFN2|ENSG00000166897|transcript|ENST00000402918|protein_coding|3/3|c.417C>T|p.Ile139Ile|1203/8361|417/2463|139/820||,A|sequence_feature|LOW|ELFN2|ENSG00000166897|topological_domain:Extracellular|ENST00000402918|protein_coding|3/3|c.417C>T||||||,A|sequence_feature|LOW|ELFN2|ENSG00000166897|repeat:LRR_4|ENST00000402918|protein_coding|3/3|c.417C>T||||||,A|downstream_gene_variant|MODIFIER|RP1-63G5.8|ENSG00000272694|transcript|ENST00000609322|antisense||n.*910G>A|||||2260|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000414347|processed_transcript||n.*532C>T|||||587|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000424973|processed_transcript||n.*481C>T|||||587|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000435824|processed_transcript||n.*579C>T|||||613|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000451509|processed_transcript||n.*517C>T|||||645|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000415408|processed_transcript||n.*558C>T|||||645|,A|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000430883|sense_overlapping|1/2|n.434+9732C>T||||||,A|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000452946|sense_overlapping|1/2|n.149-32414C>T|||||| 22 37771348 . T C . . ANN=C|missense_variant|MODERATE|ELFN2|ENSG00000166897|transcript|ENST00000402918|protein_coding|3/3|c.227A>G|p.Asn76Ser|1013/8361|227/2463|76/820||,C|sequence_feature|LOW|ELFN2|ENSG00000166897|topological_domain:Extracellular|ENST00000402918|protein_coding|3/3|c.227A>G||||||,C|sequence_feature|LOW|ELFN2|ENSG00000166897|repeat:LRR_1|ENST00000402918|protein_coding|3/3|c.227A>G||||||,C|downstream_gene_variant|MODIFIER|RP1-63G5.8|ENSG00000272694|transcript|ENST00000609322|antisense||n.*910T>C|||||2450|,C|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000414347|processed_transcript||n.*532A>G|||||397|,C|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000424973|processed_transcript||n.*481A>G|||||397|,C|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000435824|processed_transcript||n.*579A>G|||||423|,C|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000451509|processed_transcript||n.*517A>G|||||455|,C|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000415408|processed_transcript||n.*558A>G|||||455|,C|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000430883|sense_overlapping|1/2|n.434+9542A>G||||||,C|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000452946|sense_overlapping|1/2|n.149-32604A>G|||||| 22 37771437 . G A . . ANN=A|synonymous_variant|LOW|ELFN2|ENSG00000166897|transcript|ENST00000402918|protein_coding|3/3|c.138C>T|p.Tyr46Tyr|924/8361|138/2463|46/820||,A|sequence_feature|LOW|ELFN2|ENSG00000166897|topological_domain:Extracellular|ENST00000402918|protein_coding|3/3|c.138C>T||||||,A|downstream_gene_variant|MODIFIER|RP1-63G5.8|ENSG00000272694|transcript|ENST00000609322|antisense||n.*910G>A|||||2539|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000414347|processed_transcript||n.*532C>T|||||308|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000424973|processed_transcript||n.*481C>T|||||308|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000435824|processed_transcript||n.*579C>T|||||334|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000451509|processed_transcript||n.*517C>T|||||366|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000415408|processed_transcript||n.*558C>T|||||366|,A|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000430883|sense_overlapping|1/2|n.434+9453C>T||||||,A|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000452946|sense_overlapping|1/2|n.149-32693C>T|||||| 22 37771491 . C T . . ANN=T|synonymous_variant|LOW|ELFN2|ENSG00000166897|transcript|ENST00000402918|protein_coding|3/3|c.84G>A|p.Glu28Glu|870/8361|84/2463|28/820||,T|sequence_feature|LOW|ELFN2|ENSG00000166897|topological_domain:Extracellular|ENST00000402918|protein_coding|3/3|c.84G>A||||||,T|downstream_gene_variant|MODIFIER|RP1-63G5.8|ENSG00000272694|transcript|ENST00000609322|antisense||n.*910C>T|||||2593|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000414347|processed_transcript||n.*532G>A|||||254|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000424973|processed_transcript||n.*481G>A|||||254|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000435824|processed_transcript||n.*579G>A|||||280|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000451509|processed_transcript||n.*517G>A|||||312|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000415408|processed_transcript||n.*558G>A|||||312|,T|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000430883|sense_overlapping|1/2|n.434+9399G>A||||||,T|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000452946|sense_overlapping|1/2|n.149-32747G>A|||||| 22 37771594 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000402918|protein_coding|3/3|c.-20C>T|||||20|,A|downstream_gene_variant|MODIFIER|RP1-63G5.8|ENSG00000272694|transcript|ENST00000609322|antisense||n.*910G>A|||||2696|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000414347|processed_transcript||n.*532C>T|||||151|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000424973|processed_transcript||n.*481C>T|||||151|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000435824|processed_transcript||n.*579C>T|||||177|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000451509|processed_transcript||n.*517C>T|||||209|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000415408|processed_transcript||n.*558C>T|||||209|,A|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000430883|sense_overlapping|1/2|n.434+9296C>T||||||,A|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000452946|sense_overlapping|1/2|n.149-32850C>T|||||| 22 37866035 . T C . . ANN=C|missense_variant|MODERATE|MFNG|ENSG00000100060|transcript|ENST00000356998|protein_coding|8/8|c.932A>G|p.Asp311Gly|1156/2088|932/966|311/321||,C|missense_variant|MODERATE|MFNG|ENSG00000100060|transcript|ENST00000416983|protein_coding|7/7|c.890A>G|p.Asp297Gly|1100/2034|890/924|297/307||,C|synonymous_variant|LOW|MFNG|ENSG00000100060|transcript|ENST00000454291|protein_coding|2/2|c.84A>G|p.Arg28Arg|86/570|84/261|28/86||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|6/8|c.932A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|8/8|c.932A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|4/8|c.932A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|2/8|c.932A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|5/8|c.932A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|7/8|c.932A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|3/8|c.932A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|1/8|c.932A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|disulfide_bond|ENST00000356998|protein_coding|8/8|c.932A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|disulfide_bond|ENST00000416983|protein_coding|7/7|c.890A>G||||||,C|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay||n.*595A>G|||||4515|,C|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000436341|protein_coding||c.*644A>G|||||4566|WARNING_TRANSCRIPT_NO_STOP_CODON,C|non_coding_exon_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000489515|retained_intron|2/3|n.315A>G|||||| 22 37866063 . G A . . ANN=A|missense_variant|MODERATE|MFNG|ENSG00000100060|transcript|ENST00000356998|protein_coding|8/8|c.904C>T|p.Arg302Cys|1128/2088|904/966|302/321||,A|missense_variant|MODERATE|MFNG|ENSG00000100060|transcript|ENST00000416983|protein_coding|7/7|c.862C>T|p.Arg288Cys|1072/2034|862/924|288/307||,A|missense_variant|MODERATE|MFNG|ENSG00000100060|transcript|ENST00000454291|protein_coding|2/2|c.56C>T|p.Ser19Leu|58/570|56/261|19/86||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|6/8|c.904C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|8/8|c.904C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|4/8|c.904C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|2/8|c.904C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|5/8|c.904C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|7/8|c.904C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|3/8|c.904C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|1/8|c.904C>T||||||,A|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay||n.*595C>T|||||4487|,A|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000436341|protein_coding||c.*644C>T|||||4538|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000489515|retained_intron|2/3|n.287C>T|||||| 22 37866071 . CAG C . . ANN=|splice_region_variant&intron_variant|LOW|MFNG|ENSG00000100060|transcript|ENST00000356998|protein_coding|7/7|c.900-6_900-5delCT||||||,|splice_region_variant&intron_variant|LOW|MFNG|ENSG00000100060|transcript|ENST00000416983|protein_coding|6/6|c.858-6_858-5delCT||||||,|splice_region_variant&intron_variant|LOW|MFNG|ENSG00000100060|transcript|ENST00000489515|retained_intron|1/2|n.283-6_283-5delCT||||||,|splice_region_variant&intron_variant|LOW|MFNG|ENSG00000100060|transcript|ENST00000454291|protein_coding|1/1|c.52-6_52-5delCT||||||WARNING_TRANSCRIPT_NO_START_CODON,|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|6/8|c.900-6_900-5delCT||||||,|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|8/8|c.900-6_900-5delCT||||||,|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|4/8|c.900-6_900-5delCT||||||,|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|2/8|c.900-6_900-5delCT||||||,|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|5/8|c.900-6_900-5delCT||||||,|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|7/8|c.900-6_900-5delCT||||||,|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|3/8|c.900-6_900-5delCT||||||,|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|1/8|c.900-6_900-5delCT||||||,|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay||n.*595_*595delCT|||||4478|,|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000436341|protein_coding||c.*644_*644delCT|||||4529|WARNING_TRANSCRIPT_NO_STOP_CODON 22 37866075 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|MFNG|ENSG00000100060|transcript|ENST00000356998|protein_coding|7/7|c.900-8C>T||||||,A|splice_region_variant&intron_variant|LOW|MFNG|ENSG00000100060|transcript|ENST00000416983|protein_coding|6/6|c.858-8C>T||||||,A|splice_region_variant&intron_variant|LOW|MFNG|ENSG00000100060|transcript|ENST00000489515|retained_intron|1/2|n.283-8C>T||||||,A|splice_region_variant&intron_variant|LOW|MFNG|ENSG00000100060|transcript|ENST00000454291|protein_coding|1/1|c.52-8C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|6/8|c.900-8C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|8/8|c.900-8C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|4/8|c.900-8C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|2/8|c.900-8C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|5/8|c.900-8C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|7/8|c.900-8C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|3/8|c.900-8C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|1/8|c.900-8C>T||||||,A|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay||n.*595C>T|||||4475|,A|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000436341|protein_coding||c.*644C>T|||||4526|WARNING_TRANSCRIPT_NO_STOP_CODON 22 37866101 . C A . . ANN=A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|6/8|c.900-34G>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|8/8|c.900-34G>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|4/8|c.900-34G>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|2/8|c.900-34G>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|5/8|c.900-34G>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|7/8|c.900-34G>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|3/8|c.900-34G>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|1/8|c.900-34G>T||||||,A|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay||n.*595G>T|||||4449|,A|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000436341|protein_coding||c.*644G>T|||||4500|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000356998|protein_coding|7/7|c.900-34G>T||||||,A|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000416983|protein_coding|6/6|c.858-34G>T||||||,A|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000489515|retained_intron|1/2|n.283-34G>T||||||,A|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000454291|protein_coding|1/1|c.52-34G>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 37868509 . G A . . ANN=A|missense_variant|MODERATE|MFNG|ENSG00000100060|transcript|ENST00000356998|protein_coding|7/8|c.871C>T|p.Pro291Ser|1095/2088|871/966|291/321||,A|missense_variant|MODERATE|MFNG|ENSG00000100060|transcript|ENST00000416983|protein_coding|6/7|c.829C>T|p.Pro277Ser|1039/2034|829/924|277/307||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|6/8|c.871C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|8/8|c.871C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|4/8|c.871C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|2/8|c.871C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|5/8|c.871C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|7/8|c.871C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|3/8|c.871C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|1/8|c.871C>T||||||,A|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay||n.*595C>T|||||2041|,A|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000436341|protein_coding||c.*644C>T|||||2092|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000430411|nonsense_mediated_decay||n.*594C>T|||||4425|,A|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000454291|protein_coding|1/1|c.51+2041C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000489515|retained_intron|1/3|n.254C>T|||||| 22 37870534 . C T . . ANN=T|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|6/8|c.813+16G>A||||||,T|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|8/8|c.813+16G>A||||||,T|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|4/8|c.813+16G>A||||||,T|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|2/8|c.813+16G>A||||||,T|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|5/8|c.813+16G>A||||||,T|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|7/8|c.813+16G>A||||||,T|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|3/8|c.813+16G>A||||||,T|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|1/8|c.813+16G>A||||||,T|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000489515|retained_intron||n.-1G>A|||||1772|,T|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay||n.*595G>A|||||16|,T|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000436341|protein_coding||c.*644G>A|||||67|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000430411|nonsense_mediated_decay||n.*594G>A|||||2400|,T|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000442496|protein_coding||c.*524G>A|||||4916|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000356998|protein_coding|6/7|c.813+16G>A||||||,T|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000416983|protein_coding|5/6|c.771+16G>A||||||,T|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000454291|protein_coding|1/1|c.51+16G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 37870613 . G A . . ANN=A|synonymous_variant|LOW|MFNG|ENSG00000100060|transcript|ENST00000356998|protein_coding|6/8|c.750C>T|p.Ser250Ser|974/2088|750/966|250/321||,A|synonymous_variant|LOW|MFNG|ENSG00000100060|transcript|ENST00000416983|protein_coding|5/7|c.708C>T|p.Ser236Ser|918/2034|708/924|236/307||,A|synonymous_variant|LOW|MFNG|ENSG00000100060|transcript|ENST00000436341|protein_coding|6/6|c.384C>T|p.Ser128Ser|632/644|384/396|128/131||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|6/8|c.750C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|8/8|c.750C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|4/8|c.750C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|2/8|c.750C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|5/8|c.750C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|7/8|c.750C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|3/8|c.750C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|1/8|c.750C>T||||||,A|3_prime_UTR_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay|5/5|n.*308C>T|||||4889|,A|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000489515|retained_intron||n.-1C>T|||||1851|,A|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000454291|protein_coding||c.-3C>T|||||11|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000430411|nonsense_mediated_decay||n.*594C>T|||||2321|,A|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000442496|protein_coding||c.*524C>T|||||4837|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay|5/5|n.*308C>T|||||| 22 37870631 . G A . . ANN=A|synonymous_variant|LOW|MFNG|ENSG00000100060|transcript|ENST00000356998|protein_coding|6/8|c.732C>T|p.Gly244Gly|956/2088|732/966|244/321||,A|synonymous_variant|LOW|MFNG|ENSG00000100060|transcript|ENST00000416983|protein_coding|5/7|c.690C>T|p.Gly230Gly|900/2034|690/924|230/307||,A|synonymous_variant|LOW|MFNG|ENSG00000100060|transcript|ENST00000436341|protein_coding|6/6|c.366C>T|p.Gly122Gly|614/644|366/396|122/131||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|6/8|c.732C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|8/8|c.732C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|4/8|c.732C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|2/8|c.732C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|5/8|c.732C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|7/8|c.732C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|3/8|c.732C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|1/8|c.732C>T||||||,A|3_prime_UTR_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay|5/5|n.*290C>T|||||4871|,A|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000489515|retained_intron||n.-1C>T|||||1869|,A|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000454291|protein_coding||c.-3C>T|||||29|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000430411|nonsense_mediated_decay||n.*594C>T|||||2303|,A|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000442496|protein_coding||c.*524C>T|||||4819|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay|5/5|n.*290C>T|||||| 22 37870707 . C T . . ANN=T|missense_variant|MODERATE|MFNG|ENSG00000100060|transcript|ENST00000356998|protein_coding|6/8|c.656G>A|p.Arg219His|880/2088|656/966|219/321||,T|missense_variant|MODERATE|MFNG|ENSG00000100060|transcript|ENST00000416983|protein_coding|5/7|c.614G>A|p.Arg205His|824/2034|614/924|205/307||,T|missense_variant|MODERATE|MFNG|ENSG00000100060|transcript|ENST00000436341|protein_coding|6/6|c.290G>A|p.Arg97His|538/644|290/396|97/131||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|6/8|c.656G>A||||||,T|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|8/8|c.656G>A||||||,T|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|4/8|c.656G>A||||||,T|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|2/8|c.656G>A||||||,T|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|5/8|c.656G>A||||||,T|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|7/8|c.656G>A||||||,T|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|3/8|c.656G>A||||||,T|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|1/8|c.656G>A||||||,T|3_prime_UTR_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay|5/5|n.*214G>A|||||4795|,T|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000489515|retained_intron||n.-1G>A|||||1945|,T|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000454291|protein_coding||c.-3G>A|||||105|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000430411|nonsense_mediated_decay||n.*594G>A|||||2227|,T|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000442496|protein_coding||c.*524G>A|||||4743|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay|5/5|n.*214G>A|||||| 22 37872942 . C T . . ANN=T|synonymous_variant|LOW|MFNG|ENSG00000100060|transcript|ENST00000356998|protein_coding|5/8|c.639G>A|p.Pro213Pro|863/2088|639/966|213/321||,T|synonymous_variant|LOW|MFNG|ENSG00000100060|transcript|ENST00000416983|protein_coding|4/7|c.597G>A|p.Pro199Pro|807/2034|597/924|199/307||,T|synonymous_variant|LOW|MFNG|ENSG00000100060|transcript|ENST00000436341|protein_coding|5/6|c.273G>A|p.Pro91Pro|521/644|273/396|91/131||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|6/8|c.639G>A||||||,T|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|8/8|c.639G>A||||||,T|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|4/8|c.639G>A||||||,T|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|2/8|c.639G>A||||||,T|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|5/8|c.639G>A||||||,T|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|7/8|c.639G>A||||||,T|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|3/8|c.639G>A||||||,T|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|1/8|c.639G>A||||||,T|3_prime_UTR_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay|4/5|n.*197G>A|||||2560|,T|3_prime_UTR_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000430411|nonsense_mediated_decay|5/5|n.*262G>A|||||3323|,T|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000489515|retained_intron||n.-1G>A|||||4180|,T|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000454291|protein_coding||c.-3G>A|||||2340|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000442496|protein_coding||c.*524G>A|||||2508|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000466943|retained_intron||n.*436G>A|||||3307|,T|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000424765|protein_coding||c.*570G>A|||||3375|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay|4/5|n.*197G>A||||||,T|non_coding_exon_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000430411|nonsense_mediated_decay|5/5|n.*262G>A|||||| 22 37872974 . T C . . ANN=C|missense_variant|MODERATE|MFNG|ENSG00000100060|transcript|ENST00000356998|protein_coding|5/8|c.607A>G|p.Ile203Val|831/2088|607/966|203/321||,C|missense_variant|MODERATE|MFNG|ENSG00000100060|transcript|ENST00000416983|protein_coding|4/7|c.565A>G|p.Ile189Val|775/2034|565/924|189/307||,C|missense_variant|MODERATE|MFNG|ENSG00000100060|transcript|ENST00000436341|protein_coding|5/6|c.241A>G|p.Ile81Val|489/644|241/396|81/131||WARNING_TRANSCRIPT_NO_STOP_CODON,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|6/8|c.607A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|8/8|c.607A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|4/8|c.607A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|2/8|c.607A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|5/8|c.607A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|7/8|c.607A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|3/8|c.607A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|1/8|c.607A>G||||||,C|3_prime_UTR_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay|4/5|n.*165A>G|||||2528|,C|3_prime_UTR_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000430411|nonsense_mediated_decay|5/5|n.*230A>G|||||3291|,C|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000489515|retained_intron||n.-1A>G|||||4212|,C|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000454291|protein_coding||c.-3A>G|||||2372|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000442496|protein_coding||c.*524A>G|||||2476|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000466943|retained_intron||n.*436A>G|||||3275|,C|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000424765|protein_coding||c.*570A>G|||||3343|WARNING_TRANSCRIPT_NO_STOP_CODON,C|non_coding_exon_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay|4/5|n.*165A>G||||||,C|non_coding_exon_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000430411|nonsense_mediated_decay|5/5|n.*230A>G|||||| 22 37873022 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|MFNG|ENSG00000100060|transcript|ENST00000356998|protein_coding|4/7|c.562-3C>T||||||,A|splice_region_variant&intron_variant|LOW|MFNG|ENSG00000100060|transcript|ENST00000416983|protein_coding|3/6|c.520-3C>T||||||,A|splice_region_variant&intron_variant|LOW|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay|3/4|n.*120-3C>T||||||,A|splice_region_variant&intron_variant|LOW|MFNG|ENSG00000100060|transcript|ENST00000436341|protein_coding|4/5|c.196-3C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|splice_region_variant&intron_variant|LOW|MFNG|ENSG00000100060|transcript|ENST00000430411|nonsense_mediated_decay|4/4|n.*185-3C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|6/8|c.562-3C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|8/8|c.562-3C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|4/8|c.562-3C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|2/8|c.562-3C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|5/8|c.562-3C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|7/8|c.562-3C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|3/8|c.562-3C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|1/8|c.562-3C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|disulfide_bond|ENST00000356998|protein_coding|4/8|c.562-3C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|disulfide_bond|ENST00000356998|protein_coding|5/8|c.562-3C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|disulfide_bond|ENST00000416983|protein_coding|3/7|c.520-3C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|disulfide_bond|ENST00000416983|protein_coding|4/7|c.520-3C>T||||||,A|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000489515|retained_intron||n.-1C>T|||||4260|,A|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000454291|protein_coding||c.-3C>T|||||2420|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000442496|protein_coding||c.*524C>T|||||2428|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000466943|retained_intron||n.*436C>T|||||3227|,A|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000424765|protein_coding||c.*570C>T|||||3295|WARNING_TRANSCRIPT_NO_STOP_CODON 22 37875446 . A G . . ANN=G|synonymous_variant|LOW|MFNG|ENSG00000100060|transcript|ENST00000356998|protein_coding|4/8|c.498T>C|p.Tyr166Tyr|722/2088|498/966|166/321||,G|synonymous_variant|LOW|MFNG|ENSG00000100060|transcript|ENST00000416983|protein_coding|3/7|c.456T>C|p.Tyr152Tyr|666/2034|456/924|152/307||,G|synonymous_variant|LOW|MFNG|ENSG00000100060|transcript|ENST00000436341|protein_coding|4/6|c.132T>C|p.Tyr44Tyr|380/644|132/396|44/131||WARNING_TRANSCRIPT_NO_STOP_CODON,G|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|6/8|c.498T>C||||||,G|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|8/8|c.498T>C||||||,G|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|4/8|c.498T>C||||||,G|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|2/8|c.498T>C||||||,G|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|5/8|c.498T>C||||||,G|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|7/8|c.498T>C||||||,G|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|3/8|c.498T>C||||||,G|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|1/8|c.498T>C||||||,G|sequence_feature|LOW|MFNG|ENSG00000100060|disulfide_bond|ENST00000356998|protein_coding|4/8|c.498T>C||||||,G|sequence_feature|LOW|MFNG|ENSG00000100060|disulfide_bond|ENST00000356998|protein_coding|5/8|c.498T>C||||||,G|sequence_feature|LOW|MFNG|ENSG00000100060|disulfide_bond|ENST00000416983|protein_coding|3/7|c.456T>C||||||,G|sequence_feature|LOW|MFNG|ENSG00000100060|disulfide_bond|ENST00000416983|protein_coding|4/7|c.456T>C||||||,G|3_prime_UTR_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay|3/5|n.*56T>C|||||56|,G|3_prime_UTR_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000430411|nonsense_mediated_decay|4/5|n.*121T>C|||||819|,G|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000454291|protein_coding||c.-3T>C|||||4844|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000442496|protein_coding||c.*524T>C|||||4|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000466943|retained_intron||n.*436T>C|||||803|,G|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000424765|protein_coding||c.*570T>C|||||871|WARNING_TRANSCRIPT_NO_STOP_CODON,G|non_coding_exon_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay|3/5|n.*56T>C||||||,G|non_coding_exon_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000430411|nonsense_mediated_decay|4/5|n.*121T>C|||||| 22 37875447 . T C . . ANN=C|missense_variant|MODERATE|MFNG|ENSG00000100060|transcript|ENST00000356998|protein_coding|4/8|c.497A>G|p.Tyr166Cys|721/2088|497/966|166/321||,C|missense_variant|MODERATE|MFNG|ENSG00000100060|transcript|ENST00000416983|protein_coding|3/7|c.455A>G|p.Tyr152Cys|665/2034|455/924|152/307||,C|missense_variant|MODERATE|MFNG|ENSG00000100060|transcript|ENST00000436341|protein_coding|4/6|c.131A>G|p.Tyr44Cys|379/644|131/396|44/131||WARNING_TRANSCRIPT_NO_STOP_CODON,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|6/8|c.497A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|8/8|c.497A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|4/8|c.497A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|2/8|c.497A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|5/8|c.497A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|7/8|c.497A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|3/8|c.497A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|1/8|c.497A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|disulfide_bond|ENST00000356998|protein_coding|4/8|c.497A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|disulfide_bond|ENST00000356998|protein_coding|5/8|c.497A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|disulfide_bond|ENST00000416983|protein_coding|3/7|c.455A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|disulfide_bond|ENST00000416983|protein_coding|4/7|c.455A>G||||||,C|3_prime_UTR_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay|3/5|n.*55A>G|||||55|,C|3_prime_UTR_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000430411|nonsense_mediated_decay|4/5|n.*120A>G|||||818|,C|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000454291|protein_coding||c.-3A>G|||||4845|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000442496|protein_coding||c.*524A>G|||||3|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000466943|retained_intron||n.*436A>G|||||802|,C|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000424765|protein_coding||c.*570A>G|||||870|WARNING_TRANSCRIPT_NO_STOP_CODON,C|non_coding_exon_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay|3/5|n.*55A>G||||||,C|non_coding_exon_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000430411|nonsense_mediated_decay|4/5|n.*120A>G|||||| 22 37875569 . T TG . . ANN=G|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|6/8|c.408-34dupC||||||,G|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|8/8|c.408-34dupC||||||,G|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|4/8|c.408-34dupC||||||,G|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|2/8|c.408-34dupC||||||,G|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|5/8|c.408-34dupC||||||,G|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|7/8|c.408-34dupC||||||,G|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|3/8|c.408-34dupC||||||,G|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|1/8|c.408-34dupC||||||,G|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000454291|protein_coding||c.-3dupC|||||4968|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000466943|retained_intron||n.*436dupC|||||679|,G|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000424765|protein_coding||c.*570dupC|||||747|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000356998|protein_coding|3/7|c.408-34dupC||||||,G|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000416983|protein_coding|2/6|c.366-34dupC||||||,G|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay|2/4|n.359-34dupC||||||,G|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000436341|protein_coding|3/5|c.42-34dupC||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000430411|nonsense_mediated_decay|3/4|n.*31-34dupC||||||,G|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000442496|protein_coding|4/4|c.42-34dupC||||||WARNING_TRANSCRIPT_INCOMPLETE 22 37876195 . C A . . ANN=A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|6/8|c.407+40G>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|8/8|c.407+40G>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|4/8|c.407+40G>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|2/8|c.407+40G>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|5/8|c.407+40G>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|7/8|c.407+40G>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|3/8|c.407+40G>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|1/8|c.407+40G>T||||||,A|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000466943|retained_intron||n.*436G>T|||||54|,A|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000424765|protein_coding||c.*570G>T|||||122|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000356998|protein_coding|3/7|c.407+40G>T||||||,A|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000416983|protein_coding|2/6|c.365+40G>T||||||,A|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay|2/4|n.358+40G>T||||||,A|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000436341|protein_coding|3/5|c.41+40G>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000430411|nonsense_mediated_decay|3/4|n.*30+40G>T||||||,A|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000442496|protein_coding|4/4|c.41+40G>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 37876221 . C A . . ANN=A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|6/8|c.407+14G>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|8/8|c.407+14G>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|4/8|c.407+14G>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|2/8|c.407+14G>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|5/8|c.407+14G>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|7/8|c.407+14G>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|3/8|c.407+14G>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|1/8|c.407+14G>T||||||,A|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000466943|retained_intron||n.*436G>T|||||28|,A|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000424765|protein_coding||c.*570G>T|||||96|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000356998|protein_coding|3/7|c.407+14G>T||||||,A|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000416983|protein_coding|2/6|c.365+14G>T||||||,A|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay|2/4|n.358+14G>T||||||,A|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000436341|protein_coding|3/5|c.41+14G>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000430411|nonsense_mediated_decay|3/4|n.*30+14G>T||||||,A|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000442496|protein_coding|4/4|c.41+14G>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 37876289 . G A . . ANN=A|missense_variant|MODERATE|MFNG|ENSG00000100060|transcript|ENST00000356998|protein_coding|3/8|c.353C>T|p.Ala118Val|577/2088|353/966|118/321||,A|missense_variant|MODERATE|MFNG|ENSG00000100060|transcript|ENST00000416983|protein_coding|2/7|c.311C>T|p.Ala104Val|521/2034|311/924|104/307||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|6/8|c.353C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|8/8|c.353C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|4/8|c.353C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|2/8|c.353C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|5/8|c.353C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|7/8|c.353C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|3/8|c.353C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|1/8|c.353C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|disulfide_bond|ENST00000356998|protein_coding|3/8|c.353C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|disulfide_bond|ENST00000416983|protein_coding|2/7|c.311C>T||||||,A|5_prime_UTR_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000436341|protein_coding|3/6|c.-14C>T|||||14|WARNING_TRANSCRIPT_NO_STOP_CODON,A|5_prime_UTR_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000442496|protein_coding|4/5|c.-14C>T|||||14|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000424765|protein_coding||c.*570C>T|||||28|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay|2/5|n.304C>T||||||,A|non_coding_exon_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000430411|nonsense_mediated_decay|3/5|n.360C>T||||||,A|non_coding_exon_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000466943|retained_intron|2/2|n.396C>T|||||| 22 37876365 . C T . . ANN=T|splice_region_variant&synonymous_variant|LOW|MFNG|ENSG00000100060|transcript|ENST00000424765|protein_coding|3/3|c.306G>A|p.Gly102Gly|522/570|306/354|102/117||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|6/8|c.305-28G>A||||||,T|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|8/8|c.305-28G>A||||||,T|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|4/8|c.305-28G>A||||||,T|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|2/8|c.305-28G>A||||||,T|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|5/8|c.305-28G>A||||||,T|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|7/8|c.305-28G>A||||||,T|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|3/8|c.305-28G>A||||||,T|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|1/8|c.305-28G>A||||||,T|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000356998|protein_coding|2/7|c.305-28G>A||||||,T|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000416983|protein_coding|1/6|c.263-28G>A||||||,T|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay|1/4|n.256-28G>A||||||,T|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000436341|protein_coding|2/5|c.-62-28G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000430411|nonsense_mediated_decay|2/4|n.312-28G>A||||||,T|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000442496|protein_coding|3/4|c.-62-28G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000466943|retained_intron|1/1|n.348-28G>A|||||| 22 37876376 . T TC . . ANN=C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|6/8|c.305-40dupG||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|8/8|c.305-40dupG||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|4/8|c.305-40dupG||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|2/8|c.305-40dupG||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|5/8|c.305-40dupG||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|7/8|c.305-40dupG||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|3/8|c.305-40dupG||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|1/8|c.305-40dupG||||||,C|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000356998|protein_coding|2/7|c.305-40dupG||||||,C|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000416983|protein_coding|1/6|c.263-40dupG||||||,C|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay|1/4|n.256-40dupG||||||,C|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000436341|protein_coding|2/5|c.-62-40dupG||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000430411|nonsense_mediated_decay|2/4|n.312-40dupG||||||,C|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000442496|protein_coding|3/4|c.-62-40dupG||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000466943|retained_intron|1/1|n.348-40dupG||||||,C|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000424765|protein_coding|2/2|c.305-11dupG||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 37876729 . C A . . ANN=A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|6/8|c.304+30G>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|8/8|c.304+30G>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|4/8|c.304+30G>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|2/8|c.304+30G>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|5/8|c.304+30G>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|7/8|c.304+30G>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|3/8|c.304+30G>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|1/8|c.304+30G>T||||||,A|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000356998|protein_coding|2/7|c.304+30G>T||||||,A|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000416983|protein_coding|1/6|c.263-392G>T||||||,A|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay|1/4|n.256-392G>T||||||,A|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000436341|protein_coding|2/5|c.-63+30G>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000430411|nonsense_mediated_decay|2/4|n.311+30G>T||||||,A|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000442496|protein_coding|3/4|c.-63+30G>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000466943|retained_intron|1/1|n.347+30G>T||||||,A|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000424765|protein_coding|2/2|c.304+30G>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 37876747 . G A . . ANN=A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|6/8|c.304+12C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|8/8|c.304+12C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|4/8|c.304+12C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|2/8|c.304+12C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|5/8|c.304+12C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|7/8|c.304+12C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|3/8|c.304+12C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|1/8|c.304+12C>T||||||,A|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000356998|protein_coding|2/7|c.304+12C>T||||||,A|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000416983|protein_coding|1/6|c.263-410C>T||||||,A|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay|1/4|n.256-410C>T||||||,A|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000436341|protein_coding|2/5|c.-63+12C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000430411|nonsense_mediated_decay|2/4|n.311+12C>T||||||,A|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000442496|protein_coding|3/4|c.-63+12C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000466943|retained_intron|1/1|n.347+12C>T||||||,A|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000424765|protein_coding|2/2|c.304+12C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 37876748 . G A . . ANN=A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|6/8|c.304+11C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|8/8|c.304+11C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|4/8|c.304+11C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|2/8|c.304+11C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|5/8|c.304+11C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|7/8|c.304+11C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|3/8|c.304+11C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|1/8|c.304+11C>T||||||,A|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000356998|protein_coding|2/7|c.304+11C>T||||||,A|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000416983|protein_coding|1/6|c.263-411C>T||||||,A|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay|1/4|n.256-411C>T||||||,A|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000436341|protein_coding|2/5|c.-63+11C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000430411|nonsense_mediated_decay|2/4|n.311+11C>T||||||,A|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000442496|protein_coding|3/4|c.-63+11C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000466943|retained_intron|1/1|n.347+11C>T||||||,A|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000424765|protein_coding|2/2|c.304+11C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 37881962 . T C . . ANN=C|missense_variant&splice_region_variant|MODERATE|MFNG|ENSG00000100060|transcript|ENST00000356998|protein_coding|1/8|c.254A>G|p.Gln85Arg|478/2088|254/966|85/321||,C|missense_variant|MODERATE|MFNG|ENSG00000100060|transcript|ENST00000416983|protein_coding|1/7|c.254A>G|p.Gln85Arg|464/2034|254/924|85/307||,C|missense_variant&splice_region_variant|MODERATE|MFNG|ENSG00000100060|transcript|ENST00000424765|protein_coding|1/3|c.254A>G|p.Gln85Arg|470/570|254/354|85/117||WARNING_TRANSCRIPT_NO_STOP_CODON,C|splice_region_variant&non_coding_exon_variant|LOW|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay|1/5|n.254A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|6/8|c.254A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|8/8|c.254A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|4/8|c.254A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|2/8|c.254A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|5/8|c.254A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|7/8|c.254A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|3/8|c.254A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|1/8|c.254A>G||||||,C|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000436341|protein_coding||c.-249A>G|||||4553|WARNING_TRANSCRIPT_NO_STOP_CODON,C|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000442496|protein_coding||c.-397A>G|||||1295|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000466943|retained_intron||n.-1A>G|||||4857|,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding||c.*3139A>G|||||4440|,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000488141|retained_intron||n.*2169A>G|||||4438|,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding||c.*3316A>G|||||4438|,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000467812|retained_intron||n.*1910A>G|||||4439|,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding||c.*2332A>G|||||4440|,C|non_coding_exon_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000430411|nonsense_mediated_decay|1/5|n.254A>G|||||| 22 37882057 . T G . . ANN=G|synonymous_variant|LOW|MFNG|ENSG00000100060|transcript|ENST00000356998|protein_coding|1/8|c.159A>C|p.Leu53Leu|383/2088|159/966|53/321||,G|synonymous_variant|LOW|MFNG|ENSG00000100060|transcript|ENST00000416983|protein_coding|1/7|c.159A>C|p.Leu53Leu|369/2034|159/924|53/307||,G|synonymous_variant|LOW|MFNG|ENSG00000100060|transcript|ENST00000424765|protein_coding|1/3|c.159A>C|p.Leu53Leu|375/570|159/354|53/117||WARNING_TRANSCRIPT_NO_STOP_CODON,G|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|6/8|c.159A>C||||||,G|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|8/8|c.159A>C||||||,G|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|4/8|c.159A>C||||||,G|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|2/8|c.159A>C||||||,G|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|5/8|c.159A>C||||||,G|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|7/8|c.159A>C||||||,G|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|3/8|c.159A>C||||||,G|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|1/8|c.159A>C||||||,G|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000436341|protein_coding||c.-249A>C|||||4648|WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000442496|protein_coding||c.-397A>C|||||1390|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000466943|retained_intron||n.-1A>C|||||4952|,G|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding||c.*3139A>C|||||4345|,G|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000488141|retained_intron||n.*2169A>C|||||4343|,G|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding||c.*3316A>C|||||4343|,G|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000467812|retained_intron||n.*1910A>C|||||4344|,G|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding||c.*2332A>C|||||4345|,G|non_coding_exon_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay|1/5|n.159A>C||||||,G|non_coding_exon_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000430411|nonsense_mediated_decay|1/5|n.159A>C|||||| 22 37882061 . T C . . ANN=C|missense_variant|MODERATE|MFNG|ENSG00000100060|transcript|ENST00000356998|protein_coding|1/8|c.155A>G|p.Gln52Arg|379/2088|155/966|52/321||,C|missense_variant|MODERATE|MFNG|ENSG00000100060|transcript|ENST00000416983|protein_coding|1/7|c.155A>G|p.Gln52Arg|365/2034|155/924|52/307||,C|missense_variant|MODERATE|MFNG|ENSG00000100060|transcript|ENST00000424765|protein_coding|1/3|c.155A>G|p.Gln52Arg|371/570|155/354|52/117||WARNING_TRANSCRIPT_NO_STOP_CODON,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|6/8|c.155A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|8/8|c.155A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|4/8|c.155A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|2/8|c.155A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|5/8|c.155A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|7/8|c.155A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|3/8|c.155A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|1/8|c.155A>G||||||,C|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000436341|protein_coding||c.-249A>G|||||4652|WARNING_TRANSCRIPT_NO_STOP_CODON,C|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000442496|protein_coding||c.-397A>G|||||1394|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000466943|retained_intron||n.-1A>G|||||4956|,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding||c.*3139A>G|||||4341|,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000488141|retained_intron||n.*2169A>G|||||4339|,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding||c.*3316A>G|||||4339|,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000467812|retained_intron||n.*1910A>G|||||4340|,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding||c.*2332A>G|||||4341|,C|non_coding_exon_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay|1/5|n.155A>G||||||,C|non_coding_exon_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000430411|nonsense_mediated_decay|1/5|n.155A>G|||||| 22 37882149 . A C . . ANN=C|missense_variant|MODERATE|MFNG|ENSG00000100060|transcript|ENST00000356998|protein_coding|1/8|c.67T>G|p.Cys23Gly|291/2088|67/966|23/321||,C|missense_variant|MODERATE|MFNG|ENSG00000100060|transcript|ENST00000416983|protein_coding|1/7|c.67T>G|p.Cys23Gly|277/2034|67/924|23/307||,C|missense_variant|MODERATE|MFNG|ENSG00000100060|transcript|ENST00000424765|protein_coding|1/3|c.67T>G|p.Cys23Gly|283/570|67/354|23/117||WARNING_TRANSCRIPT_NO_STOP_CODON,C|sequence_feature|LOW|MFNG|ENSG00000100060|transmembrane_region:Transmembrane_region|ENST00000356998|protein_coding|1/8|c.67T>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|transmembrane_region:Transmembrane_region|ENST00000416983|protein_coding|1/7|c.67T>G||||||,C|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000436341|protein_coding||c.-249T>G|||||4740|WARNING_TRANSCRIPT_NO_STOP_CODON,C|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000442496|protein_coding||c.-397T>G|||||1482|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding||c.*3139T>G|||||4253|,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000488141|retained_intron||n.*2169T>G|||||4251|,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding||c.*3316T>G|||||4251|,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000467812|retained_intron||n.*1910T>G|||||4252|,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding||c.*2332T>G|||||4253|,C|non_coding_exon_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay|1/5|n.67T>G||||||,C|non_coding_exon_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000430411|nonsense_mediated_decay|1/5|n.67T>G|||||| 22 37882171 . G A . . ANN=A|synonymous_variant|LOW|MFNG|ENSG00000100060|transcript|ENST00000356998|protein_coding|1/8|c.45C>T|p.Thr15Thr|269/2088|45/966|15/321||,A|synonymous_variant|LOW|MFNG|ENSG00000100060|transcript|ENST00000416983|protein_coding|1/7|c.45C>T|p.Thr15Thr|255/2034|45/924|15/307||,A|synonymous_variant|LOW|MFNG|ENSG00000100060|transcript|ENST00000424765|protein_coding|1/3|c.45C>T|p.Thr15Thr|261/570|45/354|15/117||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|MFNG|ENSG00000100060|transmembrane_region:Transmembrane_region|ENST00000356998|protein_coding|1/8|c.45C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|transmembrane_region:Transmembrane_region|ENST00000416983|protein_coding|1/7|c.45C>T||||||,A|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000436341|protein_coding||c.-249C>T|||||4762|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000442496|protein_coding||c.-397C>T|||||1504|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding||c.*3139C>T|||||4231|,A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000488141|retained_intron||n.*2169C>T|||||4229|,A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding||c.*3316C>T|||||4229|,A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000467812|retained_intron||n.*1910C>T|||||4230|,A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding||c.*2332C>T|||||4231|,A|non_coding_exon_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay|1/5|n.45C>T||||||,A|non_coding_exon_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000430411|nonsense_mediated_decay|1/5|n.45C>T|||||| 22 37882177 . G A . . ANN=A|synonymous_variant|LOW|MFNG|ENSG00000100060|transcript|ENST00000356998|protein_coding|1/8|c.39C>T|p.Leu13Leu|263/2088|39/966|13/321||,A|synonymous_variant|LOW|MFNG|ENSG00000100060|transcript|ENST00000416983|protein_coding|1/7|c.39C>T|p.Leu13Leu|249/2034|39/924|13/307||,A|synonymous_variant|LOW|MFNG|ENSG00000100060|transcript|ENST00000424765|protein_coding|1/3|c.39C>T|p.Leu13Leu|255/570|39/354|13/117||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|MFNG|ENSG00000100060|transmembrane_region:Transmembrane_region|ENST00000356998|protein_coding|1/8|c.39C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|transmembrane_region:Transmembrane_region|ENST00000416983|protein_coding|1/7|c.39C>T||||||,A|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000436341|protein_coding||c.-249C>T|||||4768|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000442496|protein_coding||c.-397C>T|||||1510|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding||c.*3139C>T|||||4225|,A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000488141|retained_intron||n.*2169C>T|||||4223|,A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding||c.*3316C>T|||||4223|,A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000467812|retained_intron||n.*1910C>T|||||4224|,A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding||c.*2332C>T|||||4225|,A|non_coding_exon_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay|1/5|n.39C>T||||||,A|non_coding_exon_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000430411|nonsense_mediated_decay|1/5|n.39C>T|||||| 22 37882197 . G C . . ANN=C|missense_variant|MODERATE|MFNG|ENSG00000100060|transcript|ENST00000356998|protein_coding|1/8|c.19C>G|p.Arg7Gly|243/2088|19/966|7/321||,C|missense_variant|MODERATE|MFNG|ENSG00000100060|transcript|ENST00000416983|protein_coding|1/7|c.19C>G|p.Arg7Gly|229/2034|19/924|7/307||,C|missense_variant|MODERATE|MFNG|ENSG00000100060|transcript|ENST00000424765|protein_coding|1/3|c.19C>G|p.Arg7Gly|235/570|19/354|7/117||WARNING_TRANSCRIPT_NO_STOP_CODON,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Cytoplasmic|ENST00000356998|protein_coding|1/8|c.19C>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Cytoplasmic|ENST00000416983|protein_coding|1/7|c.19C>G||||||,C|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000436341|protein_coding||c.-249C>G|||||4788|WARNING_TRANSCRIPT_NO_STOP_CODON,C|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000442496|protein_coding||c.-397C>G|||||1530|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding||c.*3139C>G|||||4205|,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000488141|retained_intron||n.*2169C>G|||||4203|,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding||c.*3316C>G|||||4203|,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000467812|retained_intron||n.*1910C>G|||||4204|,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding||c.*2332C>G|||||4205|,C|non_coding_exon_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay|1/5|n.19C>G||||||,C|non_coding_exon_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000430411|nonsense_mediated_decay|1/5|n.19C>G|||||| 22 37882204 . C A . . ANN=A|synonymous_variant|LOW|MFNG|ENSG00000100060|transcript|ENST00000356998|protein_coding|1/8|c.12G>T|p.Arg4Arg|236/2088|12/966|4/321||,A|synonymous_variant|LOW|MFNG|ENSG00000100060|transcript|ENST00000416983|protein_coding|1/7|c.12G>T|p.Arg4Arg|222/2034|12/924|4/307||,A|synonymous_variant|LOW|MFNG|ENSG00000100060|transcript|ENST00000424765|protein_coding|1/3|c.12G>T|p.Arg4Arg|228/570|12/354|4/117||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Cytoplasmic|ENST00000356998|protein_coding|1/8|c.12G>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Cytoplasmic|ENST00000416983|protein_coding|1/7|c.12G>T||||||,A|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000436341|protein_coding||c.-249G>T|||||4795|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000442496|protein_coding||c.-397G>T|||||1537|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding||c.*3139G>T|||||4198|,A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000488141|retained_intron||n.*2169G>T|||||4196|,A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding||c.*3316G>T|||||4196|,A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000467812|retained_intron||n.*1910G>T|||||4197|,A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding||c.*2332G>T|||||4198|,A|non_coding_exon_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay|1/5|n.12G>T||||||,A|non_coding_exon_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000430411|nonsense_mediated_decay|1/5|n.12G>T|||||| 22 37882226 . TG T . . ANN=|5_prime_UTR_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000356998|protein_coding|1/8|c.-12delC|||||12|,|5_prime_UTR_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000416983|protein_coding|1/7|c.-12delC|||||12|,|5_prime_UTR_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay|1/5|n.-12delC|||||12|,|5_prime_UTR_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000430411|nonsense_mediated_decay|1/5|n.-12delC|||||12|,|5_prime_UTR_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000424765|protein_coding|1/3|c.-12delC|||||12|WARNING_TRANSCRIPT_NO_STOP_CODON,|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000436341|protein_coding||c.-249delC|||||4818|WARNING_TRANSCRIPT_NO_STOP_CODON,|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000442496|protein_coding||c.-397delC|||||1560|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding||c.*3139delC|||||4175|,|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000488141|retained_intron||n.*2169delC|||||4173|,|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding||c.*3316delC|||||4173|,|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000467812|retained_intron||n.*1910delC|||||4174|,|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding||c.*2332delC|||||4175|,|non_coding_exon_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay|1/5|n.-12delC||||||,|non_coding_exon_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000430411|nonsense_mediated_decay|1/5|n.-12delC|||||| 22 37882252 . A C . . ANN=C|5_prime_UTR_premature_start_codon_gain_variant|LOW|MFNG|ENSG00000100060|transcript|ENST00000356998|protein_coding|1/8|c.-37T>G||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|MFNG|ENSG00000100060|transcript|ENST00000416983|protein_coding|1/7|c.-37T>G||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay|1/5|n.-37T>G||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|MFNG|ENSG00000100060|transcript|ENST00000430411|nonsense_mediated_decay|1/5|n.-37T>G||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|MFNG|ENSG00000100060|transcript|ENST00000424765|protein_coding|1/3|c.-37T>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|5_prime_UTR_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000356998|protein_coding|1/8|c.-37T>G|||||37|,C|5_prime_UTR_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000416983|protein_coding|1/7|c.-37T>G|||||37|,C|5_prime_UTR_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay|1/5|n.-37T>G|||||37|,C|5_prime_UTR_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000430411|nonsense_mediated_decay|1/5|n.-37T>G|||||37|,C|5_prime_UTR_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000424765|protein_coding|1/3|c.-37T>G|||||37|WARNING_TRANSCRIPT_NO_STOP_CODON,C|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000436341|protein_coding||c.-249T>G|||||4843|WARNING_TRANSCRIPT_NO_STOP_CODON,C|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000442496|protein_coding||c.-397T>G|||||1585|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding||c.*3139T>G|||||4150|,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000488141|retained_intron||n.*2169T>G|||||4148|,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding||c.*3316T>G|||||4148|,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000467812|retained_intron||n.*1910T>G|||||4149|,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding||c.*2332T>G|||||4150|,C|non_coding_exon_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay|1/5|n.-37T>G||||||,C|non_coding_exon_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000430411|nonsense_mediated_decay|1/5|n.-37T>G|||||| 22 37887387 . C T . . ANN=T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|20/20|c.2909G>A|p.Arg970Gln|2949/3934|2909/3099|970/1032||,T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|21/21|c.2909G>A|p.Arg970Gln|3126/4113|2909/3099|970/1032||,T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|17/17|c.2051G>A|p.Arg684Gln|2142/3127|2051/2241|684/746||,T|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000356998|protein_coding||c.-225G>A|||||4948|,T|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000416983|protein_coding||c.-211G>A|||||4962|,T|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay||n.-203G>A|||||4970|,T|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000430411|nonsense_mediated_decay||n.-211G>A|||||4962|,T|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000424765|protein_coding||c.-217G>A|||||4956|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding||c.*2140G>A|||||1381|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000486118|processed_transcript||n.*546G>A|||||4470|,T|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.*578G>A|||||4521|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000488141|retained_intron|8/8|n.1182G>A||||||,T|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000467812|retained_intron|5/5|n.924G>A|||||| 22 37887478 . G A . . ANN=A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding||c.*2140C>T|||||1290|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000486118|processed_transcript||n.*546C>T|||||4379|,A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.*578C>T|||||4430|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|19/19|c.2865-47C>T||||||,A|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000488141|retained_intron|7/7|n.1138-47C>T||||||,A|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|20/20|c.2865-47C>T||||||,A|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000467812|retained_intron|4/4|n.880-47C>T||||||,A|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|16/16|c.2007-47C>T|||||| 22 37887726 . G A . . ANN=A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding||c.*2140C>T|||||1042|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000486118|processed_transcript||n.*546C>T|||||4131|,A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.*578C>T|||||4182|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|19/19|c.2864+36C>T||||||,A|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000488141|retained_intron|7/7|n.1137+36C>T||||||,A|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|20/20|c.2864+36C>T||||||,A|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000467812|retained_intron|4/4|n.879+36C>T||||||,A|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|16/16|c.2006+36C>T|||||| 22 37887806 . G A . . ANN=A|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|19/20|c.2820C>T|p.Ile940Ile|2860/3934|2820/3099|940/1032||,A|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|20/21|c.2820C>T|p.Ile940Ile|3037/4113|2820/3099|940/1032||,A|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|16/17|c.1962C>T|p.Ile654Ile|2053/3127|1962/2241|654/746||,A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding||c.*2140C>T|||||962|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000486118|processed_transcript||n.*546C>T|||||4051|,A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.*578C>T|||||4102|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000488141|retained_intron|7/8|n.1093C>T||||||,A|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000467812|retained_intron|4/5|n.835C>T|||||| 22 37887847 . G A . . ANN=A|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|19/20|c.2779C>T|p.Arg927Trp|2819/3934|2779/3099|927/1032||,A|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|20/21|c.2779C>T|p.Arg927Trp|2996/4113|2779/3099|927/1032||,A|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|16/17|c.1921C>T|p.Arg641Trp|2012/3127|1921/2241|641/746||,A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding||c.*2140C>T|||||921|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000486118|processed_transcript||n.*546C>T|||||4010|,A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.*578C>T|||||4061|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000488141|retained_intron|7/8|n.1052C>T||||||,A|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000467812|retained_intron|4/5|n.794C>T|||||| 22 37888488 . G A . . ANN=A|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|18/20|c.2705C>T|p.Pro902Leu|2745/3934|2705/3099|902/1032||,A|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|19/21|c.2705C>T|p.Pro902Leu|2922/4113|2705/3099|902/1032||,A|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|15/17|c.1847C>T|p.Pro616Leu|1938/3127|1847/2241|616/746||,A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding||c.*2140C>T|||||280|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000486118|processed_transcript||n.*546C>T|||||3369|,A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.*578C>T|||||3420|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000488141|retained_intron|6/8|n.978C>T||||||,A|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000467812|retained_intron|3/5|n.720C>T|||||| 22 37888589 . G T . . ANN=T|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding||c.*2140C>A|||||179|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000486118|processed_transcript||n.*546C>A|||||3268|,T|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.*578C>A|||||3319|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|17/19|c.2636-32C>A||||||,T|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000488141|retained_intron|5/7|n.909-32C>A||||||,T|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|18/20|c.2636-32C>A||||||,T|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000467812|retained_intron|2/4|n.651-32C>A||||||,T|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|14/16|c.1778-32C>A|||||| 22 37888594 . A C . . ANN=C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding||c.*2140T>G|||||174|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000486118|processed_transcript||n.*546T>G|||||3263|,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.*578T>G|||||3314|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|17/19|c.2636-37T>G||||||,C|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000488141|retained_intron|5/7|n.909-37T>G||||||,C|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|18/20|c.2636-37T>G||||||,C|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000467812|retained_intron|2/4|n.651-37T>G||||||,C|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|14/16|c.1778-37T>G|||||| 22 37888636 . G A . . ANN=A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding||c.*2140C>T|||||132|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000486118|processed_transcript||n.*546C>T|||||3221|,A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.*578C>T|||||3272|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|17/19|c.2635+15C>T||||||,A|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000488141|retained_intron|5/7|n.908+15C>T||||||,A|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|18/20|c.2635+15C>T||||||,A|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000467812|retained_intron|2/4|n.650+15C>T||||||,A|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|14/16|c.1777+15C>T|||||| 22 37888779 . A G . . ANN=G|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|17/20|c.2507T>C|p.Leu836Ser|2547/3934|2507/3099|836/1032||,G|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|18/21|c.2507T>C|p.Leu836Ser|2724/4113|2507/3099|836/1032||,G|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|14/17|c.1649T>C|p.Leu550Ser|1740/3127|1649/2241|550/746||,G|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|15/15|c.1430T>C|p.Leu477Ser|2129/2140|1430/1441|477/479||WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000486118|processed_transcript||n.*546T>C|||||3078|,G|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.*578T>C|||||3129|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000488141|retained_intron|5/8|n.780T>C||||||,G|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000467812|retained_intron|2/5|n.522T>C|||||| 22 37888784 . G A . . ANN=A|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|17/20|c.2502C>T|p.Tyr834Tyr|2542/3934|2502/3099|834/1032||,A|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|18/21|c.2502C>T|p.Tyr834Tyr|2719/4113|2502/3099|834/1032||,A|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|14/17|c.1644C>T|p.Tyr548Tyr|1735/3127|1644/2241|548/746||,A|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|15/15|c.1425C>T|p.Tyr475Tyr|2124/2140|1425/1441|475/479||WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000486118|processed_transcript||n.*546C>T|||||3073|,A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.*578C>T|||||3124|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000488141|retained_intron|5/8|n.775C>T||||||,A|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000467812|retained_intron|2/5|n.517C>T|||||| 22 37888840 . A G . . ANN=G|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000486118|processed_transcript||n.*546T>C|||||3017|,G|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.*578T>C|||||3068|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|16/19|c.2477-31T>C||||||,G|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000488141|retained_intron|4/7|n.750-31T>C||||||,G|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|17/20|c.2477-31T>C||||||,G|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000467812|retained_intron|1/4|n.492-31T>C||||||,G|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|13/16|c.1619-31T>C||||||,G|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|14/14|c.1400-31T>C||||||WARNING_TRANSCRIPT_INCOMPLETE 22 37888852 . G T . . ANN=T|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000486118|processed_transcript||n.*546C>A|||||3005|,T|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.*578C>A|||||3056|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|16/19|c.2477-43C>A||||||,T|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000488141|retained_intron|4/7|n.750-43C>A||||||,T|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|17/20|c.2477-43C>A||||||,T|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000467812|retained_intron|1/4|n.492-43C>A||||||,T|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|13/16|c.1619-43C>A||||||,T|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|14/14|c.1400-43C>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 37890131 . C T . . ANN=T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|16/20|c.2438G>A|p.Gly813Glu|2478/3934|2438/3099|813/1032||,T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|17/21|c.2438G>A|p.Gly813Glu|2655/4113|2438/3099|813/1032||,T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|13/17|c.1580G>A|p.Gly527Glu|1671/3127|1580/2241|527/746||,T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|14/15|c.1361G>A|p.Gly454Glu|2060/2140|1361/1441|454/479||WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000486118|processed_transcript||n.*546G>A|||||1726|,T|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.*578G>A|||||1777|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000488141|retained_intron|4/8|n.711G>A||||||,T|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000467812|retained_intron|1/5|n.453G>A|||||| 22 37891540 . C T . . ANN=T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|15/20|c.2357G>A|p.Arg786Gln|2397/3934|2357/3099|786/1032||,T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|16/21|c.2357G>A|p.Arg786Gln|2574/4113|2357/3099|786/1032||,T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|12/17|c.1499G>A|p.Arg500Gln|1590/3127|1499/2241|500/746||,T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|13/15|c.1280G>A|p.Arg427Gln|1979/2140|1280/1441|427/479||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000467812|retained_intron||n.-1G>A|||||957|,T|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000486118|processed_transcript||n.*546G>A|||||317|,T|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.*578G>A|||||368|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000488141|retained_intron|3/8|n.630G>A|||||| 22 37891718 . G A . . ANN=A|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000467812|retained_intron||n.-1C>T|||||1135|,A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000486118|processed_transcript||n.*546C>T|||||139|,A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.*578C>T|||||190|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|14/19|c.2303+49C>T||||||,A|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000488141|retained_intron|2/7|n.576+49C>T||||||,A|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|15/20|c.2303+49C>T||||||,A|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|11/16|c.1445+49C>T||||||,A|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|12/14|c.1226+49C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 37891957 . C T . . ANN=T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|14/20|c.2113G>A|p.Glu705Lys|2153/3934|2113/3099|705/1032||,T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|15/21|c.2113G>A|p.Glu705Lys|2330/4113|2113/3099|705/1032||,T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|11/17|c.1255G>A|p.Glu419Lys|1346/3127|1255/2241|419/746||,T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|12/15|c.1036G>A|p.Glu346Lys|1735/2140|1036/1441|346/479||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding|6/6|c.529G>A|p.Glu177Lys|529/578|529/578|177/191||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000467812|retained_intron||n.-1G>A|||||1374|,T|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000488141|retained_intron|2/8|n.386G>A||||||,T|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000486118|processed_transcript|3/3|n.446G>A|||||| 22 37892049 . G C . . ANN=C|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000467812|retained_intron||n.-1C>G|||||1466|,C|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|13/19|c.2060-39C>G||||||,C|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000488141|retained_intron|1/7|n.333-39C>G||||||,C|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|14/20|c.2060-39C>G||||||,C|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|10/16|c.1202-39C>G||||||,C|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|11/14|c.983-39C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000486118|processed_transcript|2/2|n.393-39C>G||||||,C|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding|5/5|c.476-39C>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 37892482 . G A . . ANN=A|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|13/20|c.2033C>T|p.Thr678Ile|2073/3934|2033/3099|678/1032||,A|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|14/21|c.2033C>T|p.Thr678Ile|2250/4113|2033/3099|678/1032||,A|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|10/17|c.1175C>T|p.Thr392Ile|1266/3127|1175/2241|392/746||,A|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|11/15|c.956C>T|p.Thr319Ile|1655/2140|956/1441|319/479||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding|5/6|c.449C>T|p.Thr150Ile|449/578|449/578|150/191||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000467812|retained_intron||n.-1C>T|||||1899|,A|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000488141|retained_intron|1/8|n.306C>T||||||,A|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000486118|processed_transcript|2/3|n.366C>T|||||| 22 37892550 . A G . . ANN=G|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|13/20|c.1965T>C|p.Ala655Ala|2005/3934|1965/3099|655/1032||,G|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|14/21|c.1965T>C|p.Ala655Ala|2182/4113|1965/3099|655/1032||,G|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|10/17|c.1107T>C|p.Ala369Ala|1198/3127|1107/2241|369/746||,G|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|11/15|c.888T>C|p.Ala296Ala|1587/2140|888/1441|296/479||WARNING_TRANSCRIPT_INCOMPLETE,G|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding|5/6|c.381T>C|p.Ala127Ala|381/578|381/578|127/191||WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000467812|retained_intron||n.-1T>C|||||1967|,G|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000488141|retained_intron|1/8|n.238T>C||||||,G|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000486118|processed_transcript|2/3|n.298T>C|||||| 22 37893047 . G A . . ANN=A|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|12/20|c.1926C>T|p.Ser642Ser|1966/3934|1926/3099|642/1032||,A|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|13/21|c.1926C>T|p.Ser642Ser|2143/4113|1926/3099|642/1032||,A|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|9/17|c.1068C>T|p.Ser356Ser|1159/3127|1068/2241|356/746||,A|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|10/15|c.849C>T|p.Ser283Ser|1548/2140|849/1441|283/479||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding|4/6|c.342C>T|p.Ser114Ser|342/578|342/578|114/191||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000488141|retained_intron||n.-1C>T|||||260|,A|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000467812|retained_intron||n.-1C>T|||||2464|,A|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000486118|processed_transcript|1/3|n.196C>T|||||| 22 37898744 . G A . . ANN=A|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|10/19|c.1664-12C>T||||||,A|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|11/20|c.1664-12C>T||||||,A|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|7/16|c.806-12C>T||||||,A|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|8/14|c.587-12C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding|2/5|c.80-12C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 37899242 . A G . . ANN=G|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000476871|retained_intron||n.*583T>C|||||4647|,G|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|9/19|c.1635-22T>C||||||,G|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|10/20|c.1635-22T>C||||||,G|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|6/16|c.777-22T>C||||||,G|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|7/14|c.558-22T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding|1/5|c.51-22T>C||||||WARNING_TRANSCRIPT_INCOMPLETE 22 37900200 . G C . . ANN=C|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|9/20|c.1627C>G|p.Pro543Ala|1667/3934|1627/3099|543/1032||,C|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|10/21|c.1627C>G|p.Pro543Ala|1844/4113|1627/3099|543/1032||,C|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|6/17|c.769C>G|p.Pro257Ala|860/3127|769/2241|257/746||,C|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|7/15|c.550C>G|p.Pro184Ala|1249/2140|550/1441|184/479||WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.-1C>G|||||113|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000476871|retained_intron||n.*583C>G|||||3689|,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript||n.*560C>G|||||4334| 22 37900243 . G A . . ANN=A|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|9/20|c.1584C>T|p.Ala528Ala|1624/3934|1584/3099|528/1032||,A|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|10/21|c.1584C>T|p.Ala528Ala|1801/4113|1584/3099|528/1032||,A|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|6/17|c.726C>T|p.Ala242Ala|817/3127|726/2241|242/746||,A|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|7/15|c.507C>T|p.Ala169Ala|1206/2140|507/1441|169/479||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.-1C>T|||||156|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000476871|retained_intron||n.*583C>T|||||3646|,A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript||n.*560C>T|||||4291| 22 37900276 . A G . . ANN=G|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|9/20|c.1551T>C|p.Asn517Asn|1591/3934|1551/3099|517/1032||,G|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|10/21|c.1551T>C|p.Asn517Asn|1768/4113|1551/3099|517/1032||,G|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|6/17|c.693T>C|p.Asn231Asn|784/3127|693/2241|231/746||,G|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|7/15|c.474T>C|p.Asn158Asn|1173/2140|474/1441|158/479||WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.-1T>C|||||189|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000476871|retained_intron||n.*583T>C|||||3613|,G|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript||n.*560T>C|||||4258| 22 37900286 . T C . . ANN=C|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|9/20|c.1541A>G|p.Lys514Arg|1581/3934|1541/3099|514/1032||,C|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|10/21|c.1541A>G|p.Lys514Arg|1758/4113|1541/3099|514/1032||,C|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|6/17|c.683A>G|p.Lys228Arg|774/3127|683/2241|228/746||,C|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|7/15|c.464A>G|p.Lys155Arg|1163/2140|464/1441|155/479||WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.-1A>G|||||199|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000476871|retained_intron||n.*583A>G|||||3603|,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript||n.*560A>G|||||4248| 22 37900607 . G A . . ANN=A|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.-1C>T|||||520|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000476871|retained_intron||n.*583C>T|||||3282|,A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript||n.*560C>T|||||3927|,A|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|8/19|c.1518+35C>T||||||,A|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|9/20|c.1518+35C>T||||||,A|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|5/16|c.660+35C>T||||||,A|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|6/14|c.441+35C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 37900643 . G A . . ANN=A|missense_variant&splice_region_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|8/20|c.1517C>T|p.Ser506Leu|1557/3934|1517/3099|506/1032||,A|missense_variant&splice_region_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|9/21|c.1517C>T|p.Ser506Leu|1734/4113|1517/3099|506/1032||,A|missense_variant&splice_region_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|5/17|c.659C>T|p.Ser220Leu|750/3127|659/2241|220/746||,A|missense_variant&splice_region_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|6/15|c.440C>T|p.Ser147Leu|1139/2140|440/1441|147/479||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.-1C>T|||||556|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000476871|retained_intron||n.*583C>T|||||3246|,A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript||n.*560C>T|||||3891| 22 37900762 . G A . . ANN=A|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|8/20|c.1398C>T|p.Ser466Ser|1438/3934|1398/3099|466/1032||,A|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|9/21|c.1398C>T|p.Ser466Ser|1615/4113|1398/3099|466/1032||,A|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|5/17|c.540C>T|p.Ser180Ser|631/3127|540/2241|180/746||,A|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|6/15|c.321C>T|p.Ser107Ser|1020/2140|321/1441|107/479||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.-1C>T|||||675|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000476871|retained_intron||n.*583C>T|||||3127|,A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript||n.*560C>T|||||3772| 22 37900771 . A G . . ANN=G|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|8/20|c.1389T>C|p.Cys463Cys|1429/3934|1389/3099|463/1032||,G|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|9/21|c.1389T>C|p.Cys463Cys|1606/4113|1389/3099|463/1032||,G|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|5/17|c.531T>C|p.Cys177Cys|622/3127|531/2241|177/746||,G|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|6/15|c.312T>C|p.Cys104Cys|1011/2140|312/1441|104/479||WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.-1T>C|||||684|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000476871|retained_intron||n.*583T>C|||||3118|,G|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript||n.*560T>C|||||3763| 22 37900782 . A C . . ANN=C|splice_region_variant&intron_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|7/19|c.1384-6T>G||||||,C|splice_region_variant&intron_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|8/20|c.1384-6T>G||||||,C|splice_region_variant&intron_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|4/16|c.526-6T>G||||||,C|splice_region_variant&intron_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|5/14|c.307-6T>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.-1T>G|||||695|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000476871|retained_intron||n.*583T>G|||||3107|,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript||n.*560T>G|||||3752| 22 37902157 . C T . . ANN=T|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.-1G>A|||||2070|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000476871|retained_intron||n.*583G>A|||||1732|,T|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript||n.*560G>A|||||2377|,T|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|7/19|c.1383+42G>A||||||,T|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|8/20|c.1383+42G>A||||||,T|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|4/16|c.525+42G>A||||||,T|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|5/14|c.306+42G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 37902177 . T C . . ANN=C|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.-1A>G|||||2090|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000476871|retained_intron||n.*583A>G|||||1712|,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript||n.*560A>G|||||2357|,C|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|7/19|c.1383+22A>G||||||,C|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|8/20|c.1383+22A>G||||||,C|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|4/16|c.525+22A>G||||||,C|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|5/14|c.306+22A>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 37902183 . A G . . ANN=G|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.-1T>C|||||2096|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000476871|retained_intron||n.*583T>C|||||1706|,G|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript||n.*560T>C|||||2351|,G|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|7/19|c.1383+16T>C||||||,G|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|8/20|c.1383+16T>C||||||,G|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|4/16|c.525+16T>C||||||,G|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|5/14|c.306+16T>C||||||WARNING_TRANSCRIPT_INCOMPLETE 22 37902193 . G C . . ANN=C|splice_region_variant&intron_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|7/19|c.1383+6C>G||||||,C|splice_region_variant&intron_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|8/20|c.1383+6C>G||||||,C|splice_region_variant&intron_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|4/16|c.525+6C>G||||||,C|splice_region_variant&intron_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|5/14|c.306+6C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.-1C>G|||||2106|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000476871|retained_intron||n.*583C>G|||||1696|,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript||n.*560C>G|||||2341| 22 37902223 . C T . . ANN=T|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|7/20|c.1359G>A|p.Arg453Arg|1399/3934|1359/3099|453/1032||,T|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|8/21|c.1359G>A|p.Arg453Arg|1576/4113|1359/3099|453/1032||,T|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|4/17|c.501G>A|p.Arg167Arg|592/3127|501/2241|167/746||,T|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|5/15|c.282G>A|p.Arg94Arg|981/2140|282/1441|94/479||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|6/20|c.1359G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|3/20|c.1359G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|5/20|c.1359G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|4/20|c.1359G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|7/20|c.1359G>A||||||,T|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.-1G>A|||||2136|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000476871|retained_intron||n.*583G>A|||||1666|,T|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript||n.*560G>A|||||2311| 22 37902235 . A C . . ANN=C|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|7/20|c.1347T>G|p.Val449Val|1387/3934|1347/3099|449/1032||,C|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|8/21|c.1347T>G|p.Val449Val|1564/4113|1347/3099|449/1032||,C|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|4/17|c.489T>G|p.Val163Val|580/3127|489/2241|163/746||,C|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|5/15|c.270T>G|p.Val90Val|969/2140|270/1441|90/479||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|6/20|c.1347T>G||||||,C|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|3/20|c.1347T>G||||||,C|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|5/20|c.1347T>G||||||,C|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|4/20|c.1347T>G||||||,C|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|7/20|c.1347T>G||||||,C|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.-1T>G|||||2148|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000476871|retained_intron||n.*583T>G|||||1654|,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript||n.*560T>G|||||2299| 22 37902274 . C T . . ANN=T|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|7/20|c.1308G>A|p.Thr436Thr|1348/3934|1308/3099|436/1032||,T|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|8/21|c.1308G>A|p.Thr436Thr|1525/4113|1308/3099|436/1032||,T|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|4/17|c.450G>A|p.Thr150Thr|541/3127|450/2241|150/746||,T|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|5/15|c.231G>A|p.Thr77Thr|930/2140|231/1441|77/479||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|6/20|c.1308G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|3/20|c.1308G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|5/20|c.1308G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|4/20|c.1308G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|7/20|c.1308G>A||||||,T|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.-1G>A|||||2187|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000476871|retained_intron||n.*583G>A|||||1615|,T|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript||n.*560G>A|||||2260| 22 37902275 . G A . . ANN=A|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|7/20|c.1307C>T|p.Thr436Met|1347/3934|1307/3099|436/1032||,A|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|8/21|c.1307C>T|p.Thr436Met|1524/4113|1307/3099|436/1032||,A|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|4/17|c.449C>T|p.Thr150Met|540/3127|449/2241|150/746||,A|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|5/15|c.230C>T|p.Thr77Met|929/2140|230/1441|77/479||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|6/20|c.1307C>T||||||,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|3/20|c.1307C>T||||||,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|5/20|c.1307C>T||||||,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|4/20|c.1307C>T||||||,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|7/20|c.1307C>T||||||,A|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.-1C>T|||||2188|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000476871|retained_intron||n.*583C>T|||||1614|,A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript||n.*560C>T|||||2259| 22 37902322 . G T . . ANN=T|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|7/20|c.1260C>A|p.Arg420Arg|1300/3934|1260/3099|420/1032||,T|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|8/21|c.1260C>A|p.Arg420Arg|1477/4113|1260/3099|420/1032||,T|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|4/17|c.402C>A|p.Arg134Arg|493/3127|402/2241|134/746||,T|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|5/15|c.183C>A|p.Arg61Arg|882/2140|183/1441|61/479||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|6/20|c.1260C>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|3/20|c.1260C>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|5/20|c.1260C>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|4/20|c.1260C>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|7/20|c.1260C>A||||||,T|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.-1C>A|||||2235|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000476871|retained_intron||n.*583C>A|||||1567|,T|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript||n.*560C>A|||||2212| 22 37902377 . C T . . ANN=T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|7/20|c.1205G>A|p.Arg402His|1245/3934|1205/3099|402/1032||,T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|8/21|c.1205G>A|p.Arg402His|1422/4113|1205/3099|402/1032||,T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|4/17|c.347G>A|p.Arg116His|438/3127|347/2241|116/746||,T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|5/15|c.128G>A|p.Arg43His|827/2140|128/1441|43/479||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|6/20|c.1205G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|3/20|c.1205G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|5/20|c.1205G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|4/20|c.1205G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|7/20|c.1205G>A||||||,T|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.-1G>A|||||2290|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000476871|retained_intron||n.*583G>A|||||1512|,T|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript||n.*560G>A|||||2157| 22 37902421 . A G . . ANN=G|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|6/20|c.1192-31T>C||||||,G|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|3/20|c.1192-31T>C||||||,G|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|5/20|c.1192-31T>C||||||,G|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|4/20|c.1192-31T>C||||||,G|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|7/20|c.1192-31T>C||||||,G|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.-1T>C|||||2334|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000476871|retained_intron||n.*583T>C|||||1468|,G|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript||n.*560T>C|||||2113|,G|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|6/19|c.1192-31T>C||||||,G|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|7/20|c.1192-31T>C||||||,G|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|3/16|c.334-31T>C||||||,G|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|4/14|c.115-31T>C||||||WARNING_TRANSCRIPT_INCOMPLETE 22 37903878 . A G . . ANN=G|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|6/20|c.1149T>C|p.Thr383Thr|1189/3934|1149/3099|383/1032||,G|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|7/21|c.1149T>C|p.Thr383Thr|1366/4113|1149/3099|383/1032||,G|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|3/17|c.291T>C|p.Thr97Thr|382/3127|291/2241|97/746||,G|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|4/15|c.72T>C|p.Thr24Thr|771/2140|72/1441|24/479||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|6/20|c.1149T>C||||||,G|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|3/20|c.1149T>C||||||,G|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|5/20|c.1149T>C||||||,G|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|4/20|c.1149T>C||||||,G|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|7/20|c.1149T>C||||||,G|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.-1T>C|||||3791|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000476871|retained_intron||n.*583T>C|||||11|,G|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript||n.*560T>C|||||656| 22 37903883 . C T . . ANN=T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|6/20|c.1144G>A|p.Ala382Thr|1184/3934|1144/3099|382/1032||,T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|7/21|c.1144G>A|p.Ala382Thr|1361/4113|1144/3099|382/1032||,T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|3/17|c.286G>A|p.Ala96Thr|377/3127|286/2241|96/746||,T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|4/15|c.67G>A|p.Ala23Thr|766/2140|67/1441|23/479||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|6/20|c.1144G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|3/20|c.1144G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|5/20|c.1144G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|4/20|c.1144G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|7/20|c.1144G>A||||||,T|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.-1G>A|||||3796|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000476871|retained_intron||n.*583G>A|||||6|,T|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript||n.*560G>A|||||651| 22 37903936 . C T . . ANN=T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|6/20|c.1091G>A|p.Arg364Gln|1131/3934|1091/3099|364/1032||,T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|7/21|c.1091G>A|p.Arg364Gln|1308/4113|1091/3099|364/1032||,T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|3/17|c.233G>A|p.Arg78Gln|324/3127|233/2241|78/746||,T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|4/15|c.14G>A|p.Arg5Gln|713/2140|14/1441|5/479||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|6/20|c.1091G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|3/20|c.1091G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|5/20|c.1091G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|4/20|c.1091G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|7/20|c.1091G>A||||||,T|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.-1G>A|||||3849|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript||n.*560G>A|||||598|,T|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000476871|retained_intron|3/3|n.536G>A|||||| 22 37903937 . G A . . ANN=A|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|6/20|c.1090C>T|p.Arg364Trp|1130/3934|1090/3099|364/1032||,A|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|7/21|c.1090C>T|p.Arg364Trp|1307/4113|1090/3099|364/1032||,A|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|3/17|c.232C>T|p.Arg78Trp|323/3127|232/2241|78/746||,A|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|4/15|c.13C>T|p.Arg5Trp|712/2140|13/1441|5/479||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|6/20|c.1090C>T||||||,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|3/20|c.1090C>T||||||,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|5/20|c.1090C>T||||||,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|4/20|c.1090C>T||||||,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|7/20|c.1090C>T||||||,A|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.-1C>T|||||3850|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript||n.*560C>T|||||597|,A|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000476871|retained_intron|3/3|n.535C>T|||||| 22 37903975 . G A . . ANN=A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|6/20|c.1066-14C>T||||||,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|3/20|c.1066-14C>T||||||,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|5/20|c.1066-14C>T||||||,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|4/20|c.1066-14C>T||||||,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|7/20|c.1066-14C>T||||||,A|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.-1C>T|||||3888|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript||n.*560C>T|||||559|,A|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|5/19|c.1066-14C>T||||||,A|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|6/20|c.1066-14C>T||||||,A|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|2/16|c.208-14C>T||||||,A|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|3/14|c.-12-14C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000476871|retained_intron|2/2|n.511-14C>T|||||| 22 37904528 . C A . . ANN=A|splice_region_variant&intron_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|5/19|c.1065+6G>T||||||,A|splice_region_variant&intron_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|6/20|c.1065+6G>T||||||,A|splice_region_variant&intron_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|2/16|c.207+6G>T||||||,A|splice_region_variant&intron_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|3/14|c.-13+6G>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|splice_region_variant&intron_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000476871|retained_intron|2/2|n.510+6G>T||||||,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|6/20|c.1065+6G>T||||||,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|3/20|c.1065+6G>T||||||,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|5/20|c.1065+6G>T||||||,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|4/20|c.1065+6G>T||||||,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|7/20|c.1065+6G>T||||||,A|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.-1G>T|||||4441|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript||n.*560G>T|||||6| 22 37904552 . G A . . ANN=A|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|5/20|c.1047C>T|p.Ala349Ala|1087/3934|1047/3099|349/1032||,A|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|6/21|c.1047C>T|p.Ala349Ala|1264/4113|1047/3099|349/1032||,A|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|2/17|c.189C>T|p.Ala63Ala|280/3127|189/2241|63/746||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|3/15|c.-31C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|6/20|c.1047C>T||||||,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|3/20|c.1047C>T||||||,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|5/20|c.1047C>T||||||,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|4/20|c.1047C>T||||||,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|7/20|c.1047C>T||||||,A|5_prime_UTR_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|3/15|c.-31C>T|||||603|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.-1C>T|||||4465|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000476871|retained_intron|2/3|n.492C>T||||||,A|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript|3/3|n.542C>T|||||| 22 37904656 . G A . . ANN=A|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|5/20|c.943C>T|p.Arg315Cys|983/3934|943/3099|315/1032||,A|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|6/21|c.943C>T|p.Arg315Cys|1160/4113|943/3099|315/1032||,A|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|2/17|c.85C>T|p.Arg29Cys|176/3127|85/2241|29/746||,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|6/20|c.943C>T||||||,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|3/20|c.943C>T||||||,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|5/20|c.943C>T||||||,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|4/20|c.943C>T||||||,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|7/20|c.943C>T||||||,A|5_prime_UTR_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|3/15|c.-135C>T|||||707|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.-1C>T|||||4569|WARNING_TRANSCRIPT_INCOMPLETE,A|TF_binding_site_variant|MODIFIER|||CTCF|MA0139.1|||||||||,A|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000476871|retained_intron|2/3|n.388C>T||||||,A|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript|3/3|n.438C>T|||||| 22 37904659 . C G . . ANN=G|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|5/20|c.940G>C|p.Glu314Gln|980/3934|940/3099|314/1032||,G|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|6/21|c.940G>C|p.Glu314Gln|1157/4113|940/3099|314/1032||,G|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|2/17|c.82G>C|p.Glu28Gln|173/3127|82/2241|28/746||,G|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|6/20|c.940G>C||||||,G|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|3/20|c.940G>C||||||,G|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|5/20|c.940G>C||||||,G|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|4/20|c.940G>C||||||,G|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|7/20|c.940G>C||||||,G|5_prime_UTR_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|3/15|c.-138G>C|||||710|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.-1G>C|||||4572|WARNING_TRANSCRIPT_INCOMPLETE,G|TF_binding_site_variant|MODIFIER|||CTCF|MA0139.1|||||||||,G|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000476871|retained_intron|2/3|n.385G>C||||||,G|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript|3/3|n.435G>C|||||| 22 37904676 . G A . . ANN=A|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|5/20|c.923C>T|p.Pro308Leu|963/3934|923/3099|308/1032||,A|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|6/21|c.923C>T|p.Pro308Leu|1140/4113|923/3099|308/1032||,A|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|2/17|c.65C>T|p.Pro22Leu|156/3127|65/2241|22/746||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|3/15|c.-155C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|6/20|c.923C>T||||||,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|3/20|c.923C>T||||||,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|5/20|c.923C>T||||||,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|4/20|c.923C>T||||||,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|7/20|c.923C>T||||||,A|5_prime_UTR_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|3/15|c.-155C>T|||||727|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.-1C>T|||||4589|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000476871|retained_intron|2/3|n.368C>T||||||,A|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript|3/3|n.418C>T|||||| 22 37904695 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|4/19|c.910-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|5/20|c.910-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|1/16|c.52-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|2/14|c.-168-6C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|splice_region_variant&intron_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000476871|retained_intron|1/2|n.355-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript|2/2|n.405-6C>T||||||,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|6/20|c.910-6C>T||||||,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|3/20|c.910-6C>T||||||,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|5/20|c.910-6C>T||||||,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|4/20|c.910-6C>T||||||,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|7/20|c.910-6C>T||||||,A|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.-1C>T|||||4608|WARNING_TRANSCRIPT_INCOMPLETE 22 37906277 . C T . . ANN=T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|4/20|c.851G>A|p.Arg284His|891/3934|851/3099|284/1032||,T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|5/21|c.851G>A|p.Arg284His|1068/4113|851/3099|284/1032||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|2/15|c.-227G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|6/20|c.851G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|3/20|c.851G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|5/20|c.851G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|4/20|c.851G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|7/20|c.851G>A||||||,T|5_prime_UTR_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|2/15|c.-227G>A|||||2328|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding||c.-92G>A|||||1121|,T|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000476871|retained_intron|1/3|n.296G>A||||||,T|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript|2/3|n.346G>A|||||| 22 37906308 . GCTCCTT G . . ANN=|inframe_deletion|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|4/20|c.814_819delAAGGAG|p.Lys272_Glu273del|859/3934|814/3099|272/1032||,|inframe_deletion|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|5/21|c.814_819delAAGGAG|p.Lys272_Glu273del|1036/4113|814/3099|272/1032||,|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|6/20|c.814_819delAAGGAG||||||,|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|3/20|c.814_819delAAGGAG||||||,|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|5/20|c.814_819delAAGGAG||||||,|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|4/20|c.814_819delAAGGAG||||||,|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|7/20|c.814_819delAAGGAG||||||,|5_prime_UTR_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|2/15|c.-264_-259delAAGGAG|||||2360|WARNING_TRANSCRIPT_INCOMPLETE,|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding||c.-92_-92delAAGGAG|||||1153|,|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000476871|retained_intron|1/3|n.259_264delAAGGAG||||||,|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript|2/3|n.309_314delAAGGAG|||||| 22 37906386 . A T . . ANN=T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|4/20|c.742T>A|p.Cys248Ser|782/3934|742/3099|248/1032||,T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|5/21|c.742T>A|p.Cys248Ser|959/4113|742/3099|248/1032||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|6/20|c.742T>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|3/20|c.742T>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|5/20|c.742T>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|4/20|c.742T>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|7/20|c.742T>A||||||,T|5_prime_UTR_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|2/15|c.-336T>A|||||2437|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding||c.-92T>A|||||1230|,T|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000476871|retained_intron|1/3|n.187T>A||||||,T|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript|2/3|n.237T>A|||||| 22 37906417 . G A . . ANN=A|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|4/20|c.711C>T|p.Leu237Leu|751/3934|711/3099|237/1032||,A|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|5/21|c.711C>T|p.Leu237Leu|928/4113|711/3099|237/1032||,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|6/20|c.711C>T||||||,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|3/20|c.711C>T||||||,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|5/20|c.711C>T||||||,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|4/20|c.711C>T||||||,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|7/20|c.711C>T||||||,A|5_prime_UTR_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|2/15|c.-367C>T|||||2468|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding||c.-92C>T|||||1261|,A|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000476871|retained_intron|1/3|n.156C>T||||||,A|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript|2/3|n.206C>T|||||| 22 37906426 . C T . . ANN=T|splice_region_variant&synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|4/20|c.702G>A|p.Val234Val|742/3934|702/3099|234/1032||,T|splice_region_variant&synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|5/21|c.702G>A|p.Val234Val|919/4113|702/3099|234/1032||,T|splice_region_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|2/15|c.-376G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|splice_region_variant&non_coding_exon_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript|2/3|n.197G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|6/20|c.702G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|3/20|c.702G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|5/20|c.702G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|4/20|c.702G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|7/20|c.702G>A||||||,T|5_prime_UTR_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|2/15|c.-376G>A|||||2477|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding||c.-92G>A|||||1270|,T|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000476871|retained_intron|1/3|n.147G>A|||||| 22 37912053 . A T . . ANN=T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|3/20|c.626T>A|p.Ile209Asn|666/3934|626/3099|209/1032||,T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|4/21|c.626T>A|p.Ile209Asn|843/4113|626/3099|209/1032||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|6/20|c.626T>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|3/20|c.626T>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|5/20|c.626T>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|4/20|c.626T>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|7/20|c.626T>A||||||,T|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding||c.-700T>A|||||3805|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript||n.-1T>A|||||1241| 22 37912152 . C T . . ANN=T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|3/20|c.527G>A|p.Arg176Gln|567/3934|527/3099|176/1032||,T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|4/21|c.527G>A|p.Arg176Gln|744/4113|527/3099|176/1032||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|6/20|c.527G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|3/20|c.527G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|5/20|c.527G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|4/20|c.527G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|7/20|c.527G>A||||||,T|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding||c.-700G>A|||||3904|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript||n.-1G>A|||||1340| 22 37912254 . C T . . ANN=T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|3/20|c.425G>A|p.Arg142Gln|465/3934|425/3099|142/1032||,T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|4/21|c.425G>A|p.Arg142Gln|642/4113|425/3099|142/1032||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|6/20|c.425G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|3/20|c.425G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|5/20|c.425G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|4/20|c.425G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|7/20|c.425G>A||||||,T|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding||c.-700G>A|||||4006|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript||n.-1G>A|||||1442| 22 37913936 . A C . . ANN=C|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript||n.-1T>G|||||3124|,C|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|2/19|c.373+42T>G||||||,C|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|3/20|c.373+42T>G|||||| 22 37913942 . G T . . ANN=T|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript||n.-1C>A|||||3130|,T|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|2/19|c.373+36C>A||||||,T|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|3/20|c.373+36C>A|||||| 22 37913945 . C G . . ANN=G|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript||n.-1G>C|||||3133|,G|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|2/19|c.373+33G>C||||||,G|intron_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|3/20|c.373+33G>C|||||| 22 37915100 . A G . . ANN=G|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|1/20|c.108T>C|p.His36His|148/3934|108/3099|36/1032||,G|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|2/21|c.108T>C|p.His36His|325/4113|108/3099|36/1032||,G|sequence_feature|LOW|CARD10|ENSG00000100065|domain:CARD|ENST00000251973|protein_coding|2/20|c.108T>C||||||,G|sequence_feature|LOW|CARD10|ENSG00000100065|domain:CARD|ENST00000251973|protein_coding|1/20|c.108T>C||||||,G|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript||n.-1T>C|||||4288| 22 37915145 . C T . . ANN=T|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|1/20|c.63G>A|p.Glu21Glu|103/3934|63/3099|21/1032||,T|synonymous_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|2/21|c.63G>A|p.Glu21Glu|280/4113|63/3099|21/1032||,T|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript||n.-1G>A|||||4333| 22 37915200 . C G . . ANN=G|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|1/20|c.8G>C|p.Gly3Ala|48/3934|8/3099|3/1032||,G|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|2/21|c.8G>C|p.Gly3Ala|225/4113|8/3099|3/1032||,G|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript||n.-1G>C|||||4388| 22 37962383 . C T . . ANN=T|synonymous_variant|LOW|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding|2/3|c.27C>T|p.Gly9Gly|447/2181|27/1176|9/391||,T|synonymous_variant|LOW|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding|3/3|c.27C>T|p.Gly9Gly|537/720|27/210|9/69||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding|2/2|c.27C>T|p.Gly9Gly|434/588|27/181|9/59||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding|2/2|c.27C>T|p.Gly9Gly|445/564|27/146|9/47||WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding||c.*574G>A|||||3872| 22 37962541 . C A . . ANN=A|missense_variant|MODERATE|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding|2/3|c.185C>A|p.Ser62Tyr|605/2181|185/1176|62/391||,A|missense_variant|MODERATE|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding|3/3|c.185C>A|p.Ser62Tyr|695/720|185/210|62/69||WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding||c.*574G>T|||||3714|,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588C>A|||||4|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564C>A|||||39|WARNING_TRANSCRIPT_INCOMPLETE 22 37962557 . C T . . ANN=T|synonymous_variant|LOW|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding|2/3|c.201C>T|p.His67His|621/2181|201/1176|67/391||,T|synonymous_variant|LOW|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding|3/3|c.201C>T|p.His67His|711/720|201/210|67/69||WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding||c.*574G>A|||||3698|,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588C>T|||||20|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564C>T|||||55|WARNING_TRANSCRIPT_INCOMPLETE 22 37962583 . G A . . ANN=A|missense_variant|MODERATE|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding|2/3|c.227G>A|p.Arg76His|647/2181|227/1176|76/391||,A|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding||c.*574C>T|||||3672|,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding||c.*720G>A|||||17|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588G>A|||||46|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564G>A|||||81|WARNING_TRANSCRIPT_INCOMPLETE 22 37962642 . C T . . ANN=T|missense_variant|MODERATE|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding|2/3|c.286C>T|p.Pro96Ser|706/2181|286/1176|96/391||,T|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding||c.*574G>A|||||3613|,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding||c.*720C>T|||||76|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588C>T|||||105|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564C>T|||||140|WARNING_TRANSCRIPT_INCOMPLETE 22 37962643 . C T . . ANN=T|missense_variant|MODERATE|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding|2/3|c.287C>T|p.Pro96Leu|707/2181|287/1176|96/391||,T|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding||c.*574G>A|||||3612|,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding||c.*720C>T|||||77|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588C>T|||||106|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564C>T|||||141|WARNING_TRANSCRIPT_INCOMPLETE 22 37962646 . G A . . ANN=A|missense_variant|MODERATE|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding|2/3|c.290G>A|p.Arg97Gln|710/2181|290/1176|97/391||,A|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding||c.*574C>T|||||3609|,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding||c.*720G>A|||||80|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588G>A|||||109|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564G>A|||||144|WARNING_TRANSCRIPT_INCOMPLETE 22 37962710 . C T . . ANN=T|synonymous_variant|LOW|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding|2/3|c.354C>T|p.Asn118Asn|774/2181|354/1176|118/391||,T|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding||c.*574G>A|||||3545|,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding||c.*720C>T|||||144|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588C>T|||||173|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564C>T|||||208|WARNING_TRANSCRIPT_INCOMPLETE 22 37962740 . C T . . ANN=T|synonymous_variant|LOW|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding|2/3|c.384C>T|p.Ala128Ala|804/2181|384/1176|128/391||,T|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding||c.*574G>A|||||3515|,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding||c.*720C>T|||||174|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588C>T|||||203|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564C>T|||||238|WARNING_TRANSCRIPT_INCOMPLETE 22 37962777 . G C . . ANN=C|missense_variant|MODERATE|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding|2/3|c.421G>C|p.Asp141His|841/2181|421/1176|141/391||,C|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding||c.*574C>G|||||3478|,C|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding||c.*720G>C|||||211|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588G>C|||||240|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564G>C|||||275|WARNING_TRANSCRIPT_INCOMPLETE 22 37964076 . G T . . ANN=T|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding||c.*574C>A|||||2179|,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding||c.*720G>T|||||1510|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588G>T|||||1539|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564G>T|||||1574|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000416480|protein_coding||c.*406C>A|||||3780|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding|2/2|c.464-39G>T|||||| 22 37964098 . G T . . ANN=T|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding||c.*574C>A|||||2157|,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding||c.*720G>T|||||1532|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588G>T|||||1561|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564G>T|||||1596|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000416480|protein_coding||c.*406C>A|||||3758|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding|2/2|c.464-17G>T|||||| 22 37964154 . G A . . ANN=A|missense_variant|MODERATE|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding|3/3|c.503G>A|p.Arg168His|923/2181|503/1176|168/391||,A|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding||c.*574C>T|||||2101|,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding||c.*720G>A|||||1588|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588G>A|||||1617|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564G>A|||||1652|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000416480|protein_coding||c.*406C>T|||||3702|WARNING_TRANSCRIPT_INCOMPLETE 22 37964203 . G A . . ANN=A|synonymous_variant|LOW|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding|3/3|c.552G>A|p.Glu184Glu|972/2181|552/1176|184/391||,A|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding||c.*574C>T|||||2052|,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding||c.*720G>A|||||1637|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588G>A|||||1666|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564G>A|||||1701|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000416480|protein_coding||c.*406C>T|||||3653|WARNING_TRANSCRIPT_INCOMPLETE 22 37964214 . G A . . ANN=A|missense_variant|MODERATE|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding|3/3|c.563G>A|p.Arg188His|983/2181|563/1176|188/391||,A|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding||c.*574C>T|||||2041|,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding||c.*720G>A|||||1648|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588G>A|||||1677|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564G>A|||||1712|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000416480|protein_coding||c.*406C>T|||||3642|WARNING_TRANSCRIPT_INCOMPLETE 22 37964231 . T C . . ANN=C|synonymous_variant|LOW|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding|3/3|c.580T>C|p.Leu194Leu|1000/2181|580/1176|194/391||,C|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding||c.*574A>G|||||2024|,C|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding||c.*720T>C|||||1665|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588T>C|||||1694|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564T>C|||||1729|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000416480|protein_coding||c.*406A>G|||||3625|WARNING_TRANSCRIPT_INCOMPLETE 22 37964299 . C G . . ANN=G|synonymous_variant|LOW|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding|3/3|c.648C>G|p.Leu216Leu|1068/2181|648/1176|216/391||,G|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding||c.*574G>C|||||1956|,G|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding||c.*720C>G|||||1733|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588C>G|||||1762|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564C>G|||||1797|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000416480|protein_coding||c.*406G>C|||||3557|WARNING_TRANSCRIPT_INCOMPLETE 22 37964383 . C T . . ANN=T|synonymous_variant|LOW|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding|3/3|c.732C>T|p.Asn244Asn|1152/2181|732/1176|244/391||,T|sequence_feature|LOW|CDC42EP1|ENSG00000128283|region_of_interest:8_X_7_AA_tandem_repeats_of_[PT]-[AT]-A-[ENT]-[PT]-[PTS]-[AG]|ENST00000249014|protein_coding|3/3|c.732C>T||||||,T|sequence_feature|LOW|CDC42EP1|ENSG00000128283|repeat:4|ENST00000249014|protein_coding|3/3|c.732C>T||||||,T|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding||c.*574G>A|||||1872|,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding||c.*720C>T|||||1817|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588C>T|||||1846|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564C>T|||||1881|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000416480|protein_coding||c.*406G>A|||||3473|WARNING_TRANSCRIPT_INCOMPLETE 22 37964408 . CCAGCGCCTGCTGCAAACCCCT C . . ANN=|disruptive_inframe_deletion|MODERATE|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding|3/3|c.762_782delGCCTGCTGCAAACCCCTCAGC|p.Pro255_Ala261del|1182/2181|762/1176|254/391||INFO_REALIGN_3_PRIME,|sequence_feature|LOW|CDC42EP1|ENSG00000128283|region_of_interest:8_X_7_AA_tandem_repeats_of_[PT]-[AT]-A-[ENT]-[PT]-[PTS]-[AG]|ENST00000249014|protein_coding|3/3|c.758_778delCAGCGCCTGCTGCAAACCCCT||||||,|sequence_feature|LOW|CDC42EP1|ENSG00000128283|repeat:5|ENST00000249014|protein_coding|3/3|c.758_778delCAGCGCCTGCTGCAAACCCCT||||||,|sequence_feature|LOW|CDC42EP1|ENSG00000128283|repeat:6|ENST00000249014|protein_coding|3/3|c.758_778delCAGCGCCTGCTGCAAACCCCT||||||,|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding||c.*574_*574delAGGGGTTTGCAGCAGGCGCTG|||||1846|,|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding||c.*720_*720delCAGCGCCTGCTGCAAACCCCT|||||1843|WARNING_TRANSCRIPT_NO_STOP_CODON,|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588_*588delCAGCGCCTGCTGCAAACCCCT|||||1872|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564_*564delCAGCGCCTGCTGCAAACCCCT|||||1907|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000416480|protein_coding||c.*406_*406delAGGGGTTTGCAGCAGGCGCTG|||||3447|WARNING_TRANSCRIPT_INCOMPLETE 22 37964413 . GCCTGCTGCAAACCCCTCAGCA G . . ANN=|disruptive_inframe_deletion|MODERATE|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding|3/3|c.768_788delTGCAAACCCCTCAGCACCTGC|p.Ala257_Ala263del|1188/2181|768/1176|256/391||INFO_REALIGN_3_PRIME,|sequence_feature|LOW|CDC42EP1|ENSG00000128283|region_of_interest:8_X_7_AA_tandem_repeats_of_[PT]-[AT]-A-[ENT]-[PT]-[PTS]-[AG]|ENST00000249014|protein_coding|3/3|c.763_783delCCTGCTGCAAACCCCTCAGCA||||||,|sequence_feature|LOW|CDC42EP1|ENSG00000128283|repeat:6|ENST00000249014|protein_coding|3/3|c.763_783delCCTGCTGCAAACCCCTCAGCA||||||,|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding||c.*574_*574delTGCTGAGGGGTTTGCAGCAGG|||||1841|,|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding||c.*720_*720delCCTGCTGCAAACCCCTCAGCA|||||1848|WARNING_TRANSCRIPT_NO_STOP_CODON,|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588_*588delCCTGCTGCAAACCCCTCAGCA|||||1877|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564_*564delCCTGCTGCAAACCCCTCAGCA|||||1912|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000416480|protein_coding||c.*406_*406delTGCTGAGGGGTTTGCAGCAGG|||||3442|WARNING_TRANSCRIPT_INCOMPLETE 22 37964575 . T C . . ANN=C|synonymous_variant|LOW|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding|3/3|c.924T>C|p.Gly308Gly|1344/2181|924/1176|308/391||,C|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding||c.*574A>G|||||1680|,C|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding||c.*720T>C|||||2009|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588T>C|||||2038|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564T>C|||||2073|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000416480|protein_coding||c.*406A>G|||||3281|WARNING_TRANSCRIPT_INCOMPLETE 22 37964580 . G A . . ANN=A|missense_variant|MODERATE|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding|3/3|c.929G>A|p.Arg310Gln|1349/2181|929/1176|310/391||,A|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding||c.*574C>T|||||1675|,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding||c.*720G>A|||||2014|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588G>A|||||2043|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564G>A|||||2078|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000416480|protein_coding||c.*406C>T|||||3276|WARNING_TRANSCRIPT_INCOMPLETE 22 37964632 . C T . . ANN=T|synonymous_variant|LOW|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding|3/3|c.981C>T|p.Gly327Gly|1401/2181|981/1176|327/391||,T|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding||c.*574G>A|||||1623|,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding||c.*720C>T|||||2066|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588C>T|||||2095|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564C>T|||||2130|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000416480|protein_coding||c.*406G>A|||||3224|WARNING_TRANSCRIPT_INCOMPLETE 22 37964682 . T C . . ANN=C|missense_variant|MODERATE|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding|3/3|c.1031T>C|p.Leu344Pro|1451/2181|1031/1176|344/391||,C|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding||c.*574A>G|||||1573|,C|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding||c.*720T>C|||||2116|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588T>C|||||2145|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564T>C|||||2180|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000416480|protein_coding||c.*406A>G|||||3174|WARNING_TRANSCRIPT_INCOMPLETE 22 37964756 . G A . . ANN=A|missense_variant|MODERATE|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding|3/3|c.1105G>A|p.Val369Met|1525/2181|1105/1176|369/391||,A|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding||c.*574C>T|||||1499|,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding||c.*720G>A|||||2190|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588G>A|||||2219|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564G>A|||||2254|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000416480|protein_coding||c.*406C>T|||||3100|WARNING_TRANSCRIPT_INCOMPLETE 22 37964767 . A G . . ANN=G|synonymous_variant|LOW|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding|3/3|c.1116A>G|p.Thr372Thr|1536/2181|1116/1176|372/391||,G|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding||c.*574T>C|||||1488|,G|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding||c.*720A>G|||||2201|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588A>G|||||2230|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564A>G|||||2265|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000416480|protein_coding||c.*406T>C|||||3089|WARNING_TRANSCRIPT_INCOMPLETE 22 37964795 . G A . . ANN=A|missense_variant|MODERATE|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding|3/3|c.1144G>A|p.Asp382Asn|1564/2181|1144/1176|382/391||,A|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding||c.*574C>T|||||1460|,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding||c.*720G>A|||||2229|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588G>A|||||2258|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564G>A|||||2293|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000416480|protein_coding||c.*406C>T|||||3061|WARNING_TRANSCRIPT_INCOMPLETE 22 37964857 . C G . . ANN=G|3_prime_UTR_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding|3/3|c.*30C>G|||||30|,G|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding||c.*574G>C|||||1398|,G|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding||c.*720C>G|||||2291|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588C>G|||||2320|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564C>G|||||2355|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000416480|protein_coding||c.*406G>C|||||2999|WARNING_TRANSCRIPT_INCOMPLETE 22 37966258 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding|4/4|c.*12C>T|||||12|,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding||c.*1596G>A|||||846|,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding||c.*720G>A|||||3692|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588G>A|||||3721|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564G>A|||||3756|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000416480|protein_coding||c.*406C>T|||||1598|WARNING_TRANSCRIPT_INCOMPLETE 22 37966314 . C T . . ANN=T|missense_variant|MODERATE|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding|4/4|c.355G>A|p.Val119Ile|530/589|355/399|119/132||,T|sequence_feature|LOW|LGALS2|ENSG00000100079|beta_strand|ENST00000215886|protein_coding|4/4|c.355G>A||||||,T|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|2/4|c.355G>A||||||,T|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|4/4|c.355G>A||||||,T|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|3/4|c.355G>A||||||,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding||c.*1596C>T|||||902|,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding||c.*720C>T|||||3748|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588C>T|||||3777|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564C>T|||||3812|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000416480|protein_coding||c.*406G>A|||||1542|WARNING_TRANSCRIPT_INCOMPLETE 22 37966366 . G A . . ANN=A|synonymous_variant|LOW|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding|4/4|c.303C>T|p.His101His|478/589|303/399|101/132||,A|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|2/4|c.303C>T||||||,A|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|4/4|c.303C>T||||||,A|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|3/4|c.303C>T||||||,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding||c.*1596G>A|||||954|,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding||c.*720G>A|||||3800|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588G>A|||||3829|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564G>A|||||3864|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000416480|protein_coding||c.*406C>T|||||1490|WARNING_TRANSCRIPT_INCOMPLETE 22 37966409 . G A . . ANN=A|missense_variant|MODERATE|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding|4/4|c.260C>T|p.Thr87Ile|435/589|260/399|87/132||,A|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|2/4|c.260C>T||||||,A|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|4/4|c.260C>T||||||,A|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|3/4|c.260C>T||||||,A|sequence_feature|LOW|LGALS2|ENSG00000100079|beta_strand|ENST00000215886|protein_coding|4/4|c.260C>T||||||,A|sequence_feature|LOW|LGALS2|ENSG00000100079|beta_strand|ENST00000215886|protein_coding|3/4|c.260C>T||||||,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding||c.*1596G>A|||||997|,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding||c.*720G>A|||||3843|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588G>A|||||3872|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564G>A|||||3907|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000416480|protein_coding||c.*406C>T|||||1447|WARNING_TRANSCRIPT_INCOMPLETE 22 37966427 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding|3/3|c.250-8C>T||||||,A|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|2/4|c.250-8C>T||||||,A|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|4/4|c.250-8C>T||||||,A|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|3/4|c.250-8C>T||||||,A|sequence_feature|LOW|LGALS2|ENSG00000100079|beta_strand|ENST00000215886|protein_coding|4/4|c.250-8C>T||||||,A|sequence_feature|LOW|LGALS2|ENSG00000100079|beta_strand|ENST00000215886|protein_coding|3/4|c.250-8C>T||||||,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding||c.*1596G>A|||||1015|,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding||c.*720G>A|||||3861|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588G>A|||||3890|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564G>A|||||3925|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000416480|protein_coding||c.*406C>T|||||1429|WARNING_TRANSCRIPT_INCOMPLETE 22 37966572 . T C . . ANN=C|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|2/4|c.249+11A>G||||||,C|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|4/4|c.249+11A>G||||||,C|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|3/4|c.249+11A>G||||||,C|sequence_feature|LOW|LGALS2|ENSG00000100079|beta_strand|ENST00000215886|protein_coding|4/4|c.249+11A>G||||||,C|sequence_feature|LOW|LGALS2|ENSG00000100079|beta_strand|ENST00000215886|protein_coding|3/4|c.249+11A>G||||||,C|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding||c.*1596T>C|||||1160|,C|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding||c.*720T>C|||||4006|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588T>C|||||4035|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564T>C|||||4070|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000416480|protein_coding||c.*406A>G|||||1284|WARNING_TRANSCRIPT_INCOMPLETE,C|TF_binding_site_variant|MODIFIER|||PPARG|MA0065.2|||||||||,C|TF_binding_site_variant|MODIFIER|||PPARG|MA0065.1|||||||||,C|intron_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding|3/3|c.249+11A>G|||||| 22 37966623 . CGTT C . . ANN=|disruptive_inframe_deletion|MODERATE|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding|3/4|c.206_208delAAC|p.Gln69del|383/589|206/399|69/132||,|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|2/4|c.206_208delAAC||||||,|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|4/4|c.206_208delAAC||||||,|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|3/4|c.206_208delAAC||||||,|sequence_feature|LOW|LGALS2|ENSG00000100079|beta_strand|ENST00000215886|protein_coding|3/4|c.206_208delAAC||||||,|sequence_feature|LOW|LGALS2|ENSG00000100079|region_of_interest:Beta-galactoside_binding|ENST00000215886|protein_coding|3/4|c.206_208delAAC||||||,|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding||c.*1596_*1596delGTT|||||1212|,|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding||c.*720_*720delGTT|||||4058|WARNING_TRANSCRIPT_NO_STOP_CODON,|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588_*588delGTT|||||4087|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564_*564delGTT|||||4122|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000416480|protein_coding||c.*406_*406delAAC|||||1232|WARNING_TRANSCRIPT_INCOMPLETE 22 37966634 . C T . . ANN=T|synonymous_variant|LOW|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding|3/4|c.198G>A|p.Gly66Gly|373/589|198/399|66/132||,T|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|2/4|c.198G>A||||||,T|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|4/4|c.198G>A||||||,T|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|3/4|c.198G>A||||||,T|sequence_feature|LOW|LGALS2|ENSG00000100079|region_of_interest:Beta-galactoside_binding|ENST00000215886|protein_coding|3/4|c.198G>A||||||,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding||c.*1596C>T|||||1222|,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding||c.*720C>T|||||4068|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588C>T|||||4097|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564C>T|||||4132|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000416480|protein_coding||c.*406G>A|||||1222|WARNING_TRANSCRIPT_INCOMPLETE 22 37966648 . C T . . ANN=T|missense_variant|MODERATE|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding|3/4|c.184G>A|p.Gly62Ser|359/589|184/399|62/132||,T|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|2/4|c.184G>A||||||,T|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|4/4|c.184G>A||||||,T|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|3/4|c.184G>A||||||,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding||c.*1596C>T|||||1236|,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding||c.*720C>T|||||4082|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588C>T|||||4111|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564C>T|||||4146|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000416480|protein_coding||c.*406G>A|||||1208|WARNING_TRANSCRIPT_INCOMPLETE 22 37966649 . G A . . ANN=A|synonymous_variant|LOW|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding|3/4|c.183C>T|p.Asp61Asp|358/589|183/399|61/132||,A|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|2/4|c.183C>T||||||,A|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|4/4|c.183C>T||||||,A|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|3/4|c.183C>T||||||,A|sequence_feature|LOW|LGALS2|ENSG00000100079|beta_strand|ENST00000215886|protein_coding|3/4|c.183C>T||||||,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding||c.*1596G>A|||||1237|,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding||c.*720G>A|||||4083|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588G>A|||||4112|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564G>A|||||4147|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000416480|protein_coding||c.*406C>T|||||1207|WARNING_TRANSCRIPT_INCOMPLETE 22 37966655 . T A . . ANN=A|synonymous_variant|LOW|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding|3/4|c.177A>T|p.Ser59Ser|352/589|177/399|59/132||,A|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|2/4|c.177A>T||||||,A|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|4/4|c.177A>T||||||,A|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|3/4|c.177A>T||||||,A|sequence_feature|LOW|LGALS2|ENSG00000100079|beta_strand|ENST00000215886|protein_coding|3/4|c.177A>T||||||,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding||c.*1596T>A|||||1243|,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding||c.*720T>A|||||4089|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588T>A|||||4118|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564T>A|||||4153|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000416480|protein_coding||c.*406A>T|||||1201|WARNING_TRANSCRIPT_INCOMPLETE 22 37966686 . C T . . ANN=T|missense_variant|MODERATE|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding|3/4|c.146G>A|p.Arg49His|321/589|146/399|49/132||,T|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|2/4|c.146G>A||||||,T|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|4/4|c.146G>A||||||,T|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|3/4|c.146G>A||||||,T|sequence_feature|LOW|LGALS2|ENSG00000100079|beta_strand|ENST00000215886|protein_coding|3/4|c.146G>A||||||,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding||c.*1596C>T|||||1274|,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding||c.*720C>T|||||4120|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588C>T|||||4149|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564C>T|||||4184|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000416480|protein_coding||c.*406G>A|||||1170|WARNING_TRANSCRIPT_INCOMPLETE 22 37966689 . G A . . ANN=A|missense_variant|MODERATE|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding|3/4|c.143C>T|p.Pro48Leu|318/589|143/399|48/132||,A|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|2/4|c.143C>T||||||,A|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|4/4|c.143C>T||||||,A|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|3/4|c.143C>T||||||,A|sequence_feature|LOW|LGALS2|ENSG00000100079|beta_strand|ENST00000215886|protein_coding|3/4|c.143C>T||||||,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding||c.*1596G>A|||||1277|,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding||c.*720G>A|||||4123|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588G>A|||||4152|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564G>A|||||4187|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000416480|protein_coding||c.*406C>T|||||1167|WARNING_TRANSCRIPT_INCOMPLETE 22 37966787 . G A . . ANN=A|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|2/4|c.90-45C>T||||||,A|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|4/4|c.90-45C>T||||||,A|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|3/4|c.90-45C>T||||||,A|sequence_feature|LOW|LGALS2|ENSG00000100079|beta_strand|ENST00000215886|protein_coding|2/4|c.90-45C>T||||||,A|sequence_feature|LOW|LGALS2|ENSG00000100079|beta_strand|ENST00000215886|protein_coding|3/4|c.90-45C>T||||||,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding||c.*1596G>A|||||1375|,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding||c.*720G>A|||||4221|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588G>A|||||4250|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564G>A|||||4285|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000416480|protein_coding||c.*406C>T|||||1069|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding|2/3|c.90-45C>T|||||| 22 37967817 . C T . . ANN=T|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|2/4|c.89+39G>A||||||,T|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|4/4|c.89+39G>A||||||,T|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|3/4|c.89+39G>A||||||,T|sequence_feature|LOW|LGALS2|ENSG00000100079|beta_strand|ENST00000215886|protein_coding|2/4|c.89+39G>A||||||,T|sequence_feature|LOW|LGALS2|ENSG00000100079|beta_strand|ENST00000215886|protein_coding|3/4|c.89+39G>A||||||,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding||c.*1596C>T|||||2405|,T|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000416480|protein_coding||c.*406G>A|||||39|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding|2/3|c.89+39G>A|||||| 22 37967856 . C A . . ANN=A|missense_variant&splice_region_variant|MODERATE|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding|2/4|c.89G>T|p.Gly30Val|264/589|89/399|30/132||,A|splice_region_variant&synonymous_variant|LOW|LGALS2|ENSG00000100079|transcript|ENST00000416480|protein_coding|4/4|c.89G>T|p.???30???|406/406|89/89|30/28||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|2/4|c.89G>T||||||,A|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|4/4|c.89G>T||||||,A|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|3/4|c.89G>T||||||,A|sequence_feature|LOW|LGALS2|ENSG00000100079|beta_strand|ENST00000215886|protein_coding|2/4|c.89G>T||||||,A|sequence_feature|LOW|LGALS2|ENSG00000100079|beta_strand|ENST00000215886|protein_coding|3/4|c.89G>T||||||,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding||c.*1596C>A|||||2444| 22 37967904 . G A . . ANN=A|missense_variant|MODERATE|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding|2/4|c.41C>T|p.Pro14Leu|216/589|41/399|14/132||,A|missense_variant|MODERATE|LGALS2|ENSG00000100079|transcript|ENST00000416480|protein_coding|4/4|c.41C>T|p.Pro14Leu|358/406|41/89|14/28||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|2/4|c.41C>T||||||,A|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|4/4|c.41C>T||||||,A|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|3/4|c.41C>T||||||,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding||c.*1596G>A|||||2492| 22 38010291 . C T . . ANN=T|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000414350|protein_coding|3/3|c.128+10C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000414350|protein_coding|2/3|c.128+10C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|6/17|c.128+10C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|3/17|c.128+10C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|5/17|c.128+10C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|2/17|c.128+10C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|4/17|c.128+10C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000343632|protein_coding|3/17|c.128+10C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000343632|protein_coding|2/17|c.128+10C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|6/15|c.128+10C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|3/15|c.128+10C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|5/15|c.128+10C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|2/15|c.128+10C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|4/15|c.128+10C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000325180|protein_coding|3/15|c.128+10C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000325180|protein_coding|2/15|c.128+10C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000337437|protein_coding|3/16|c.128+10C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000337437|protein_coding|2/16|c.128+10C>T||||||,T|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000491295|retained_intron||n.-1C>T|||||4119|,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000484804|processed_transcript||n.*449C>T|||||10|,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000488672|processed_transcript||n.*547C>T|||||89|,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|2/16|c.128+10C>T||||||,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000414350|protein_coding|2/2|c.128+10C>T||||||,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|2/16|c.128+10C>T||||||,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000489772|retained_intron|2/2|n.159+10C>T||||||,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000405147|protein_coding|2/4|c.128+10C>T||||||,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000429218|protein_coding|2/6|c.-92+10C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|2/14|c.128+10C>T||||||,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|2/15|c.128+10C>T||||||,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000439161|protein_coding|3/5|c.-92+10C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000449944|protein_coding|2/8|c.104+10C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000411501|protein_coding|3/5|c.-92+10C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000453208|protein_coding|3/6|c.-92+10C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000447515|protein_coding|2/3|c.-92+10C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|3/17|c.-92+10C>T||||||,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000431745|protein_coding|3/4|c.-92+10C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000326597|protein_coding|2/4|c.-92+10C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000413251|protein_coding|2/6|c.-92+10C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000423024|protein_coding|1/5|c.-92+10C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 38012892 . G A . . ANN=A|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000414350|protein_coding|3/3|c.129-37G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000414350|protein_coding|2/3|c.129-37G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|6/17|c.129-37G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|3/17|c.129-37G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|5/17|c.129-37G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|2/17|c.129-37G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|4/17|c.129-37G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000343632|protein_coding|3/17|c.129-37G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000343632|protein_coding|2/17|c.129-37G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|6/15|c.129-37G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|3/15|c.129-37G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|5/15|c.129-37G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|2/15|c.129-37G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|4/15|c.129-37G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000325180|protein_coding|3/15|c.129-37G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000325180|protein_coding|2/15|c.129-37G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000337437|protein_coding|3/16|c.129-37G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000337437|protein_coding|2/16|c.129-37G>A||||||,A|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000491295|retained_intron||n.-1G>A|||||1518|,A|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000481613|retained_intron||n.-1G>A|||||3969|,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000484804|processed_transcript||n.*449G>A|||||2611|,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000488672|processed_transcript||n.*547G>A|||||2690|,A|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|2/16|c.129-37G>A||||||,A|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000414350|protein_coding|2/2|c.129-37G>A||||||,A|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|2/16|c.129-37G>A||||||,A|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000489772|retained_intron|2/2|n.160-37G>A||||||,A|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000405147|protein_coding|2/4|c.129-37G>A||||||,A|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000429218|protein_coding|2/6|c.-91-37G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|2/14|c.129-37G>A||||||,A|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|2/15|c.129-37G>A||||||,A|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000439161|protein_coding|3/5|c.-91-37G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000449944|protein_coding|2/8|c.105-37G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000411501|protein_coding|3/5|c.-91-37G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000453208|protein_coding|3/6|c.-91-37G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000447515|protein_coding|2/3|c.-91-37G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|3/17|c.-91-37G>A||||||,A|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000431745|protein_coding|3/4|c.-91-37G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000326597|protein_coding|2/4|c.-91-37G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000413251|protein_coding|2/6|c.-91-37G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000423024|protein_coding|1/5|c.-91-37G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 38012897 . G A . . ANN=A|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000414350|protein_coding|3/3|c.129-32G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000414350|protein_coding|2/3|c.129-32G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|6/17|c.129-32G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|3/17|c.129-32G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|5/17|c.129-32G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|2/17|c.129-32G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|4/17|c.129-32G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000343632|protein_coding|3/17|c.129-32G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000343632|protein_coding|2/17|c.129-32G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|6/15|c.129-32G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|3/15|c.129-32G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|5/15|c.129-32G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|2/15|c.129-32G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|4/15|c.129-32G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000325180|protein_coding|3/15|c.129-32G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000325180|protein_coding|2/15|c.129-32G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000337437|protein_coding|3/16|c.129-32G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000337437|protein_coding|2/16|c.129-32G>A||||||,A|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000491295|retained_intron||n.-1G>A|||||1513|,A|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000481613|retained_intron||n.-1G>A|||||3964|,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000484804|processed_transcript||n.*449G>A|||||2616|,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000488672|processed_transcript||n.*547G>A|||||2695|,A|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|2/16|c.129-32G>A||||||,A|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000414350|protein_coding|2/2|c.129-32G>A||||||,A|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|2/16|c.129-32G>A||||||,A|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000489772|retained_intron|2/2|n.160-32G>A||||||,A|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000405147|protein_coding|2/4|c.129-32G>A||||||,A|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000429218|protein_coding|2/6|c.-91-32G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|2/14|c.129-32G>A||||||,A|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|2/15|c.129-32G>A||||||,A|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000439161|protein_coding|3/5|c.-91-32G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000449944|protein_coding|2/8|c.105-32G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000411501|protein_coding|3/5|c.-91-32G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000453208|protein_coding|3/6|c.-91-32G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000447515|protein_coding|2/3|c.-91-32G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|3/17|c.-91-32G>A||||||,A|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000431745|protein_coding|3/4|c.-91-32G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000326597|protein_coding|2/4|c.-91-32G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000413251|protein_coding|2/6|c.-91-32G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000423024|protein_coding|1/5|c.-91-32G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 38012938 . C T . . ANN=T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|3/17|c.138C>T|p.Leu46Leu|274/2107|138/1971|46/656||,T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000414350|protein_coding|3/3|c.138C>T|p.Leu46Leu|525/1714|138/270|46/89||,T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|3/17|c.138C>T|p.Leu46Leu|524/3159|138/1920|46/639||,T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000405147|protein_coding|3/5|c.138C>T|p.Leu46Leu|165/575|138/318|46/105||,T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|3/15|c.138C>T|p.Leu46Leu|154/2528|138/1659|46/552||,T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|3/16|c.138C>T|p.Leu46Leu|153/2688|138/1821|46/606||,T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000449944|protein_coding|3/9|c.114C>T|p.Leu38Leu|302/927|114/739|38/245||WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000429218|protein_coding|3/7|c.-82C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000439161|protein_coding|4/6|c.-82C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000411501|protein_coding|4/6|c.-82C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000453208|protein_coding|4/7|c.-82C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000447515|protein_coding|3/4|c.-82C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|4/18|c.-82C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000431745|protein_coding|4/5|c.-82C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000326597|protein_coding|3/5|c.-82C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000413251|protein_coding|3/7|c.-82C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000423024|protein_coding|2/6|c.-82C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000414350|protein_coding|3/3|c.138C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000414350|protein_coding|2/3|c.138C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|6/17|c.138C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|3/17|c.138C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|5/17|c.138C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|2/17|c.138C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|4/17|c.138C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000343632|protein_coding|3/17|c.138C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000343632|protein_coding|2/17|c.138C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|6/15|c.138C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|3/15|c.138C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|5/15|c.138C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|2/15|c.138C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|4/15|c.138C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000325180|protein_coding|3/15|c.138C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000325180|protein_coding|2/15|c.138C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000337437|protein_coding|3/16|c.138C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000337437|protein_coding|2/16|c.138C>T||||||,T|5_prime_UTR_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000429218|protein_coding|3/7|c.-82C>T|||||1532|WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000439161|protein_coding|4/6|c.-82C>T|||||1532|WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000411501|protein_coding|4/6|c.-82C>T|||||1532|WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000453208|protein_coding|4/7|c.-82C>T|||||1532|WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000447515|protein_coding|3/4|c.-82C>T|||||1532|WARNING_TRANSCRIPT_NO_STOP_CODON,T|5_prime_UTR_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|4/18|c.-82C>T|||||1532|,T|5_prime_UTR_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000431745|protein_coding|4/5|c.-82C>T|||||1532|WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000326597|protein_coding|3/5|c.-82C>T|||||1532|WARNING_TRANSCRIPT_NO_STOP_CODON,T|5_prime_UTR_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000413251|protein_coding|3/7|c.-82C>T|||||1532|WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000423024|protein_coding|2/6|c.-82C>T|||||1532|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000491295|retained_intron||n.-1C>T|||||1472|,T|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000481613|retained_intron||n.-1C>T|||||3923|,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000484804|processed_transcript||n.*449C>T|||||2657|,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000488672|processed_transcript||n.*547C>T|||||2736|,T|non_coding_exon_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000489772|retained_intron|3/3|n.169C>T|||||| 22 38014442 . C G . . ANN=G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|6/17|c.205-13C>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|3/17|c.205-13C>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|5/17|c.205-13C>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|2/17|c.205-13C>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|4/17|c.205-13C>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000343632|protein_coding|3/17|c.205-13C>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000343632|protein_coding|4/17|c.205-13C>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|6/15|c.205-13C>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|3/15|c.205-13C>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|5/15|c.205-13C>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|2/15|c.205-13C>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|4/15|c.205-13C>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000325180|protein_coding|3/15|c.205-13C>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000325180|protein_coding|4/15|c.205-13C>G||||||,G|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000481613|retained_intron||n.-1C>G|||||2419|,G|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000414350|protein_coding||c.*657C>G|||||315|,G|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000489772|retained_intron||n.*1384C>G|||||289|,G|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000484804|processed_transcript||n.*449C>G|||||4161|,G|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000488672|processed_transcript||n.*547C>G|||||4240|,G|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|3/16|c.256-13C>G||||||,G|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|3/16|c.205-13C>G||||||,G|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000405147|protein_coding|3/4|c.205-13C>G||||||,G|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000429218|protein_coding|3/6|c.-15-13C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|3/14|c.205-13C>G||||||,G|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|3/15|c.204+1438C>G||||||,G|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000439161|protein_coding|4/5|c.-15-13C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000449944|protein_coding|3/8|c.181-13C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000411501|protein_coding|4/5|c.-15-13C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000453208|protein_coding|4/6|c.-15-13C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000447515|protein_coding|3/3|c.-15-13C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|4/17|c.-15-13C>G||||||,G|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000431745|protein_coding|4/4|c.-15-13C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000326597|protein_coding|3/4|c.-15-13C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000413251|protein_coding|3/6|c.-15-13C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000423024|protein_coding|2/5|c.-15-13C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000491295|retained_intron|1/2|n.33C>G|||||| 22 38014443 . C G . . ANN=G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|6/17|c.205-12C>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|3/17|c.205-12C>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|5/17|c.205-12C>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|2/17|c.205-12C>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|4/17|c.205-12C>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000343632|protein_coding|3/17|c.205-12C>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000343632|protein_coding|4/17|c.205-12C>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|6/15|c.205-12C>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|3/15|c.205-12C>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|5/15|c.205-12C>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|2/15|c.205-12C>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|4/15|c.205-12C>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000325180|protein_coding|3/15|c.205-12C>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000325180|protein_coding|4/15|c.205-12C>G||||||,G|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000481613|retained_intron||n.-1C>G|||||2418|,G|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000414350|protein_coding||c.*657C>G|||||316|,G|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000489772|retained_intron||n.*1384C>G|||||290|,G|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000484804|processed_transcript||n.*449C>G|||||4162|,G|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000488672|processed_transcript||n.*547C>G|||||4241|,G|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|3/16|c.256-12C>G||||||,G|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|3/16|c.205-12C>G||||||,G|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000405147|protein_coding|3/4|c.205-12C>G||||||,G|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000429218|protein_coding|3/6|c.-15-12C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|3/14|c.205-12C>G||||||,G|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|3/15|c.204+1439C>G||||||,G|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000439161|protein_coding|4/5|c.-15-12C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000449944|protein_coding|3/8|c.181-12C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000411501|protein_coding|4/5|c.-15-12C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000453208|protein_coding|4/6|c.-15-12C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000447515|protein_coding|3/3|c.-15-12C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|4/17|c.-15-12C>G||||||,G|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000431745|protein_coding|4/4|c.-15-12C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000326597|protein_coding|3/4|c.-15-12C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000413251|protein_coding|3/6|c.-15-12C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000423024|protein_coding|2/5|c.-15-12C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000491295|retained_intron|1/2|n.34C>G|||||| 22 38016355 . G C . . ANN=C|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|5/17|c.465G>C|p.Met155Ile|601/2107|465/1971|155/656||,C|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|5/17|c.414G>C|p.Met138Ile|800/3159|414/1920|138/639||,C|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000429218|protein_coding|5/7|c.195G>C|p.Met65Ile|436/566|195/325|65/107||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|5/15|c.414G>C|p.Met138Ile|430/2528|414/1659|138/552||,C|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|4/16|c.315G>C|p.Met105Ile|330/2688|315/1821|105/606||,C|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000449944|protein_coding|5/9|c.390G>C|p.Met130Ile|578/927|390/739|130/245||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000453208|protein_coding|6/7|c.195G>C|p.Met65Ile|622/639|195/212|65/69||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|6/18|c.195G>C|p.Met65Ile|847/3205|195/1701|65/566||,C|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000413251|protein_coding|5/7|c.195G>C|p.Met65Ile|434/565|195/326|65/107||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000423024|protein_coding|4/6|c.195G>C|p.Met65Ile|428/559|195/326|65/107||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|6/17|c.414G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|3/17|c.414G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|5/17|c.414G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|2/17|c.414G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|4/17|c.414G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|8/17|c.414G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|6/17|c.414G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|7/17|c.414G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|9/17|c.414G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|5/17|c.414G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000343632|protein_coding|5/17|c.414G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|6/15|c.414G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|3/15|c.414G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|5/15|c.414G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|2/15|c.414G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|4/15|c.414G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|8/15|c.414G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|6/15|c.414G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|7/15|c.414G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|9/15|c.414G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|5/15|c.414G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000325180|protein_coding|5/15|c.414G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|7/16|c.315G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|5/16|c.315G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|6/16|c.315G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|8/16|c.315G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|4/16|c.315G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000337437|protein_coding|4/16|c.315G>C||||||,C|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000481613|retained_intron||n.-1G>C|||||506|,C|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000475445|retained_intron||n.-1G>C|||||3481|,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000414350|protein_coding||c.*657G>C|||||2228|,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000489772|retained_intron||n.*1384G>C|||||2202|,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000405147|protein_coding||c.*345G>C|||||304|,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000439161|protein_coding||c.*568G>C|||||16|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000411501|protein_coding||c.*661G>C|||||73|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000447515|protein_coding||c.*577G>C|||||1802|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000431745|protein_coding||c.*483G>C|||||1833|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000326597|protein_coding||c.*946G>C|||||81|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000491295|retained_intron||n.*594G>C|||||99| 22 38016386 . T TG . . ANN=G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|6/17|c.427+18_427+19insG||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|3/17|c.427+18_427+19insG||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|5/17|c.427+18_427+19insG||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|2/17|c.427+18_427+19insG||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|4/17|c.427+18_427+19insG||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|8/17|c.427+18_427+19insG||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|6/17|c.427+18_427+19insG||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|7/17|c.427+18_427+19insG||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|9/17|c.427+18_427+19insG||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|5/17|c.427+18_427+19insG||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|6/15|c.427+18_427+19insG||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|3/15|c.427+18_427+19insG||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|5/15|c.427+18_427+19insG||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|2/15|c.427+18_427+19insG||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|4/15|c.427+18_427+19insG||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|8/15|c.427+18_427+19insG||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|6/15|c.427+18_427+19insG||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|7/15|c.427+18_427+19insG||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|9/15|c.427+18_427+19insG||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|5/15|c.427+18_427+19insG||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|7/16|c.328+18_328+19insG||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|5/16|c.328+18_328+19insG||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|6/16|c.328+18_328+19insG||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|8/16|c.328+18_328+19insG||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|4/16|c.328+18_328+19insG||||||,G|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000481613|retained_intron||n.-1_-1insG|||||474|,G|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000475445|retained_intron||n.-1_-1insG|||||3449|,G|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000414350|protein_coding||c.*657_*657insG|||||2260|,G|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000489772|retained_intron||n.*1384_*1384insG|||||2234|,G|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000405147|protein_coding||c.*345_*345insG|||||336|,G|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000439161|protein_coding||c.*568_*568insG|||||48|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000411501|protein_coding||c.*661_*661insG|||||105|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000447515|protein_coding||c.*577_*577insG|||||1834|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000431745|protein_coding||c.*483_*483insG|||||1865|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000326597|protein_coding||c.*946_*946insG|||||113|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000491295|retained_intron||n.*594_*594insG|||||131|,G|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|5/16|c.478+24dupG||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|5/16|c.427+24dupG||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000429218|protein_coding|5/6|c.208+24dupG||||||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|5/14|c.427+24dupG||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|4/15|c.328+24dupG||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000449944|protein_coding|5/8|c.403+24dupG||||||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000453208|protein_coding|6/6|c.208+24dupG||||||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|6/17|c.208+24dupG||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000413251|protein_coding|5/6|c.208+24dupG||||||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000423024|protein_coding|4/5|c.208+24dupG||||||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME 22 38016825 . G A . . ANN=A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|6/17|c.484G>A|p.Val162Ile|620/2107|484/1971|162/656||,A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|6/17|c.433G>A|p.Val145Ile|819/3159|433/1920|145/639||,A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000429218|protein_coding|6/7|c.214G>A|p.Val72Ile|455/566|214/325|72/107||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|6/15|c.433G>A|p.Val145Ile|449/2528|433/1659|145/552||,A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|5/16|c.334G>A|p.Val112Ile|349/2688|334/1821|112/606||,A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000449944|protein_coding|6/9|c.409G>A|p.Val137Ile|597/927|409/739|137/245||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|7/18|c.214G>A|p.Val72Ile|866/3205|214/1701|72/566||,A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000413251|protein_coding|6/7|c.214G>A|p.Val72Ile|453/565|214/326|72/107||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000423024|protein_coding|5/6|c.214G>A|p.Val72Ile|447/559|214/326|72/107||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|6/17|c.433G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|3/17|c.433G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|5/17|c.433G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|2/17|c.433G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|4/17|c.433G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|8/17|c.433G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|6/17|c.433G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|7/17|c.433G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|9/17|c.433G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|5/17|c.433G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|6/15|c.433G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|3/15|c.433G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|5/15|c.433G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|2/15|c.433G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|4/15|c.433G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|8/15|c.433G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|6/15|c.433G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|7/15|c.433G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|9/15|c.433G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|5/15|c.433G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|7/16|c.334G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|5/16|c.334G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|6/16|c.334G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|8/16|c.334G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|4/16|c.334G>A||||||,A|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000481613|retained_intron||n.-1G>A|||||36|,A|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000475445|retained_intron||n.-1G>A|||||3011|,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000414350|protein_coding||c.*657G>A|||||2698|,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000489772|retained_intron||n.*1384G>A|||||2672|,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000405147|protein_coding||c.*345G>A|||||774|,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000439161|protein_coding||c.*568G>A|||||486|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000411501|protein_coding||c.*661G>A|||||543|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000453208|protein_coding||c.*639G>A|||||2|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000447515|protein_coding||c.*577G>A|||||2272|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000431745|protein_coding||c.*483G>A|||||2303|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000326597|protein_coding||c.*946G>A|||||551|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000491295|retained_intron||n.*594G>A|||||569| 22 38016833 . C T . . ANN=T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|6/17|c.492C>T|p.Ser164Ser|628/2107|492/1971|164/656||,T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|6/17|c.441C>T|p.Ser147Ser|827/3159|441/1920|147/639||,T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000429218|protein_coding|6/7|c.222C>T|p.Ser74Ser|463/566|222/325|74/107||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|6/15|c.441C>T|p.Ser147Ser|457/2528|441/1659|147/552||,T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|5/16|c.342C>T|p.Ser114Ser|357/2688|342/1821|114/606||,T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000449944|protein_coding|6/9|c.417C>T|p.Ser139Ser|605/927|417/739|139/245||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|7/18|c.222C>T|p.Ser74Ser|874/3205|222/1701|74/566||,T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000413251|protein_coding|6/7|c.222C>T|p.Ser74Ser|461/565|222/326|74/107||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000423024|protein_coding|5/6|c.222C>T|p.Ser74Ser|455/559|222/326|74/107||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|6/17|c.441C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|3/17|c.441C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|5/17|c.441C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|2/17|c.441C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|4/17|c.441C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|8/17|c.441C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|6/17|c.441C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|7/17|c.441C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|9/17|c.441C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|5/17|c.441C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|6/15|c.441C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|3/15|c.441C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|5/15|c.441C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|2/15|c.441C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|4/15|c.441C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|8/15|c.441C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|6/15|c.441C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|7/15|c.441C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|9/15|c.441C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|5/15|c.441C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|7/16|c.342C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|5/16|c.342C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|6/16|c.342C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|8/16|c.342C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|4/16|c.342C>T||||||,T|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000481613|retained_intron||n.-1C>T|||||28|,T|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000475445|retained_intron||n.-1C>T|||||3003|,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000414350|protein_coding||c.*657C>T|||||2706|,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000489772|retained_intron||n.*1384C>T|||||2680|,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000405147|protein_coding||c.*345C>T|||||782|,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000439161|protein_coding||c.*568C>T|||||494|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000411501|protein_coding||c.*661C>T|||||551|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000453208|protein_coding||c.*639C>T|||||10|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000447515|protein_coding||c.*577C>T|||||2280|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000431745|protein_coding||c.*483C>T|||||2311|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000326597|protein_coding||c.*946C>T|||||559|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000491295|retained_intron||n.*594C>T|||||577| 22 38017682 . C T . . ANN=T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|7/17|c.639C>T|p.Leu213Leu|775/2107|639/1971|213/656||,T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|7/17|c.588C>T|p.Leu196Leu|974/3159|588/1920|196/639||,T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|7/15|c.588C>T|p.Leu196Leu|604/2528|588/1659|196/552||,T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|6/16|c.489C>T|p.Leu163Leu|504/2688|489/1821|163/606||,T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000449944|protein_coding|7/9|c.564C>T|p.Leu188Leu|752/927|564/739|188/245||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|8/18|c.369C>T|p.Leu123Leu|1021/3205|369/1701|123/566||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|8/17|c.588C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|6/17|c.588C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|7/17|c.588C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|9/17|c.588C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|5/17|c.588C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|10/17|c.588C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|8/17|c.588C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|6/17|c.588C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|7/17|c.588C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|9/17|c.588C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000343632|protein_coding|8/17|c.588C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000343632|protein_coding|7/17|c.588C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|8/15|c.588C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|6/15|c.588C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|7/15|c.588C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|9/15|c.588C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|5/15|c.588C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000325180|protein_coding|8/15|c.588C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000325180|protein_coding|7/15|c.588C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|7/16|c.489C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|5/16|c.489C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|6/16|c.489C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|8/16|c.489C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|4/16|c.489C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|9/16|c.489C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|7/16|c.489C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|5/16|c.489C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|6/16|c.489C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|8/16|c.489C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000337437|protein_coding|7/16|c.489C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000337437|protein_coding|6/16|c.489C>T||||||,T|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000475445|retained_intron||n.-1C>T|||||2154|,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000414350|protein_coding||c.*657C>T|||||3555|,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000489772|retained_intron||n.*1384C>T|||||3529|,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000405147|protein_coding||c.*345C>T|||||1631|,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000429218|protein_coding||c.*566C>T|||||44|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000439161|protein_coding||c.*568C>T|||||1343|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000411501|protein_coding||c.*661C>T|||||1400|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000453208|protein_coding||c.*639C>T|||||859|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000447515|protein_coding||c.*577C>T|||||3129|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000431745|protein_coding||c.*483C>T|||||3160|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000326597|protein_coding||c.*946C>T|||||1408|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000413251|protein_coding||c.*565C>T|||||43|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000423024|protein_coding||c.*559C>T|||||43|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000491295|retained_intron||n.*594C>T|||||1426|,T|non_coding_exon_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000481613|retained_intron|2/4|n.120C>T|||||| 22 38019448 . G C . . ANN=C|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|8/17|c.775G>C|p.Ala259Pro|911/2107|775/1971|259/656||,C|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|8/17|c.724G>C|p.Ala242Pro|1110/3159|724/1920|242/639||,C|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|8/15|c.724G>C|p.Ala242Pro|740/2528|724/1659|242/552||,C|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|7/16|c.625G>C|p.Ala209Pro|640/2688|625/1821|209/606||,C|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000449944|protein_coding|8/9|c.700G>C|p.Ala234Pro|888/927|700/739|234/245||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|9/18|c.505G>C|p.Ala169Pro|1157/3205|505/1701|169/566||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|8/17|c.724G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|6/17|c.724G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|7/17|c.724G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|9/17|c.724G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|5/17|c.724G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|10/17|c.724G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|8/17|c.724G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|6/17|c.724G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|7/17|c.724G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|9/17|c.724G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|8/15|c.724G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|6/15|c.724G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|7/15|c.724G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|9/15|c.724G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|5/15|c.724G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|7/16|c.625G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|5/16|c.625G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|6/16|c.625G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|8/16|c.625G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|4/16|c.625G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|9/16|c.625G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|7/16|c.625G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|5/16|c.625G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|6/16|c.625G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|8/16|c.625G>C||||||,C|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000475445|retained_intron||n.-1G>C|||||388|,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000405147|protein_coding||c.*345G>C|||||3397|,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000429218|protein_coding||c.*566G>C|||||1810|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000439161|protein_coding||c.*568G>C|||||3109|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000411501|protein_coding||c.*661G>C|||||3166|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000453208|protein_coding||c.*639G>C|||||2625|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000447515|protein_coding||c.*577G>C|||||4895|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000431745|protein_coding||c.*483G>C|||||4926|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000326597|protein_coding||c.*946G>C|||||3174|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000413251|protein_coding||c.*565G>C|||||1809|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000423024|protein_coding||c.*559G>C|||||1809|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000491295|retained_intron||n.*594G>C|||||3192|,C|non_coding_exon_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000481613|retained_intron|3/4|n.256G>C|||||| 22 38019458 . G A . . ANN=A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|8/17|c.785G>A|p.Ser262Asn|921/2107|785/1971|262/656||,A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|8/17|c.734G>A|p.Ser245Asn|1120/3159|734/1920|245/639||,A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|8/15|c.734G>A|p.Ser245Asn|750/2528|734/1659|245/552||,A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|7/16|c.635G>A|p.Ser212Asn|650/2688|635/1821|212/606||,A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000449944|protein_coding|8/9|c.710G>A|p.Ser237Asn|898/927|710/739|237/245||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|9/18|c.515G>A|p.Ser172Asn|1167/3205|515/1701|172/566||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|8/17|c.734G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|6/17|c.734G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|7/17|c.734G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|9/17|c.734G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|5/17|c.734G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|10/17|c.734G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|8/17|c.734G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|6/17|c.734G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|7/17|c.734G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|9/17|c.734G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000343632|protein_coding|8/17|c.734G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000343632|protein_coding|9/17|c.734G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|8/15|c.734G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|6/15|c.734G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|7/15|c.734G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|9/15|c.734G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|5/15|c.734G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000325180|protein_coding|8/15|c.734G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000325180|protein_coding|9/15|c.734G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|7/16|c.635G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|5/16|c.635G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|6/16|c.635G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|8/16|c.635G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|4/16|c.635G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|9/16|c.635G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|7/16|c.635G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|5/16|c.635G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|6/16|c.635G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|8/16|c.635G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000337437|protein_coding|7/16|c.635G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000337437|protein_coding|8/16|c.635G>A||||||,A|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000475445|retained_intron||n.-1G>A|||||378|,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000405147|protein_coding||c.*345G>A|||||3407|,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000429218|protein_coding||c.*566G>A|||||1820|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000439161|protein_coding||c.*568G>A|||||3119|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000411501|protein_coding||c.*661G>A|||||3176|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000453208|protein_coding||c.*639G>A|||||2635|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000447515|protein_coding||c.*577G>A|||||4905|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000431745|protein_coding||c.*483G>A|||||4936|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000326597|protein_coding||c.*946G>A|||||3184|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000413251|protein_coding||c.*565G>A|||||1819|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000423024|protein_coding||c.*559G>A|||||1819|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000491295|retained_intron||n.*594G>A|||||3202|,A|non_coding_exon_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000481613|retained_intron|3/4|n.266G>A|||||| 22 38019493 . C T . . ANN=T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|8/17|c.750+19C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|6/17|c.750+19C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|7/17|c.750+19C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|9/17|c.750+19C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|5/17|c.750+19C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|10/17|c.750+19C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|8/17|c.750+19C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|6/17|c.750+19C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|7/17|c.750+19C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|9/17|c.750+19C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000343632|protein_coding|8/17|c.750+19C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000343632|protein_coding|9/17|c.750+19C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|8/15|c.750+19C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|6/15|c.750+19C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|7/15|c.750+19C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|9/15|c.750+19C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|5/15|c.750+19C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000325180|protein_coding|8/15|c.750+19C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000325180|protein_coding|9/15|c.750+19C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|7/16|c.651+19C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|5/16|c.651+19C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|6/16|c.651+19C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|8/16|c.651+19C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|4/16|c.651+19C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|9/16|c.651+19C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|7/16|c.651+19C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|5/16|c.651+19C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|6/16|c.651+19C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|8/16|c.651+19C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000337437|protein_coding|7/16|c.651+19C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000337437|protein_coding|8/16|c.651+19C>T||||||,T|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000475445|retained_intron||n.-1C>T|||||343|,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000405147|protein_coding||c.*345C>T|||||3442|,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000429218|protein_coding||c.*566C>T|||||1855|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000439161|protein_coding||c.*568C>T|||||3154|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000411501|protein_coding||c.*661C>T|||||3211|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000453208|protein_coding||c.*639C>T|||||2670|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000447515|protein_coding||c.*577C>T|||||4940|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000431745|protein_coding||c.*483C>T|||||4971|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000326597|protein_coding||c.*946C>T|||||3219|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000413251|protein_coding||c.*565C>T|||||1854|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000423024|protein_coding||c.*559C>T|||||1854|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000491295|retained_intron||n.*594C>T|||||3237|,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|8/16|c.801+19C>T||||||,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|8/16|c.750+19C>T||||||,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|8/14|c.750+19C>T||||||,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|7/15|c.651+19C>T||||||,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000449944|protein_coding|8/8|c.726+19C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|9/17|c.531+19C>T||||||,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000481613|retained_intron|3/3|n.282+19C>T|||||| 22 38019499 . C T . . ANN=T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|8/17|c.750+25C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|6/17|c.750+25C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|7/17|c.750+25C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|9/17|c.750+25C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|5/17|c.750+25C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|10/17|c.750+25C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|8/17|c.750+25C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|6/17|c.750+25C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|7/17|c.750+25C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|9/17|c.750+25C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000343632|protein_coding|8/17|c.750+25C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000343632|protein_coding|9/17|c.750+25C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|8/15|c.750+25C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|6/15|c.750+25C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|7/15|c.750+25C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|9/15|c.750+25C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|5/15|c.750+25C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000325180|protein_coding|8/15|c.750+25C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000325180|protein_coding|9/15|c.750+25C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|7/16|c.651+25C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|5/16|c.651+25C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|6/16|c.651+25C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|8/16|c.651+25C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|4/16|c.651+25C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|9/16|c.651+25C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|7/16|c.651+25C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|5/16|c.651+25C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|6/16|c.651+25C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|8/16|c.651+25C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000337437|protein_coding|7/16|c.651+25C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000337437|protein_coding|8/16|c.651+25C>T||||||,T|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000475445|retained_intron||n.-1C>T|||||337|,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000405147|protein_coding||c.*345C>T|||||3448|,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000429218|protein_coding||c.*566C>T|||||1861|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000439161|protein_coding||c.*568C>T|||||3160|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000411501|protein_coding||c.*661C>T|||||3217|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000453208|protein_coding||c.*639C>T|||||2676|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000447515|protein_coding||c.*577C>T|||||4946|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000431745|protein_coding||c.*483C>T|||||4977|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000326597|protein_coding||c.*946C>T|||||3225|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000413251|protein_coding||c.*565C>T|||||1860|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000423024|protein_coding||c.*559C>T|||||1860|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000491295|retained_intron||n.*594C>T|||||3243|,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|8/16|c.801+25C>T||||||,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|8/16|c.750+25C>T||||||,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|8/14|c.750+25C>T||||||,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|7/15|c.651+25C>T||||||,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000449944|protein_coding|8/8|c.726+25C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|9/17|c.531+25C>T||||||,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000481613|retained_intron|3/3|n.282+25C>T|||||| 22 38019526 . C T . . ANN=T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|8/17|c.751-33C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|6/17|c.751-33C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|7/17|c.751-33C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|9/17|c.751-33C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|5/17|c.751-33C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|10/17|c.751-33C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|8/17|c.751-33C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|6/17|c.751-33C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|7/17|c.751-33C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|9/17|c.751-33C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000343632|protein_coding|8/17|c.751-33C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000343632|protein_coding|9/17|c.751-33C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|8/15|c.751-33C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|6/15|c.751-33C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|7/15|c.751-33C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|9/15|c.751-33C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|5/15|c.751-33C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000325180|protein_coding|8/15|c.751-33C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000325180|protein_coding|9/15|c.751-33C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|7/16|c.652-33C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|5/16|c.652-33C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|6/16|c.652-33C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|8/16|c.652-33C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|4/16|c.652-33C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|9/16|c.652-33C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|7/16|c.652-33C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|5/16|c.652-33C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|6/16|c.652-33C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|8/16|c.652-33C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000337437|protein_coding|7/16|c.652-33C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000337437|protein_coding|8/16|c.652-33C>T||||||,T|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000475445|retained_intron||n.-1C>T|||||310|,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000405147|protein_coding||c.*345C>T|||||3475|,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000429218|protein_coding||c.*566C>T|||||1888|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000439161|protein_coding||c.*568C>T|||||3187|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000411501|protein_coding||c.*661C>T|||||3244|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000453208|protein_coding||c.*639C>T|||||2703|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000447515|protein_coding||c.*577C>T|||||4973|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000326597|protein_coding||c.*946C>T|||||3252|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000413251|protein_coding||c.*565C>T|||||1887|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000423024|protein_coding||c.*559C>T|||||1887|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000491295|retained_intron||n.*594C>T|||||3270|,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|8/16|c.802-33C>T||||||,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|8/16|c.751-33C>T||||||,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|8/14|c.751-33C>T||||||,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|7/15|c.652-33C>T||||||,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000449944|protein_coding|8/8|c.727-33C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|9/17|c.532-33C>T||||||,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000481613|retained_intron|3/3|n.283-33C>T|||||| 22 38019542 . C T . . ANN=T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|8/17|c.751-17C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|6/17|c.751-17C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|7/17|c.751-17C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|9/17|c.751-17C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|5/17|c.751-17C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|10/17|c.751-17C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|8/17|c.751-17C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|6/17|c.751-17C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|7/17|c.751-17C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|9/17|c.751-17C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000343632|protein_coding|8/17|c.751-17C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000343632|protein_coding|9/17|c.751-17C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|8/15|c.751-17C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|6/15|c.751-17C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|7/15|c.751-17C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|9/15|c.751-17C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|5/15|c.751-17C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000325180|protein_coding|8/15|c.751-17C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000325180|protein_coding|9/15|c.751-17C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|7/16|c.652-17C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|5/16|c.652-17C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|6/16|c.652-17C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|8/16|c.652-17C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|4/16|c.652-17C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|9/16|c.652-17C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|7/16|c.652-17C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|5/16|c.652-17C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|6/16|c.652-17C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|8/16|c.652-17C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000337437|protein_coding|7/16|c.652-17C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000337437|protein_coding|8/16|c.652-17C>T||||||,T|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000475445|retained_intron||n.-1C>T|||||294|,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000405147|protein_coding||c.*345C>T|||||3491|,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000429218|protein_coding||c.*566C>T|||||1904|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000439161|protein_coding||c.*568C>T|||||3203|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000411501|protein_coding||c.*661C>T|||||3260|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000453208|protein_coding||c.*639C>T|||||2719|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000447515|protein_coding||c.*577C>T|||||4989|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000326597|protein_coding||c.*946C>T|||||3268|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000413251|protein_coding||c.*565C>T|||||1903|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000423024|protein_coding||c.*559C>T|||||1903|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000491295|retained_intron||n.*594C>T|||||3286|,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|8/16|c.802-17C>T||||||,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|8/16|c.751-17C>T||||||,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|8/14|c.751-17C>T||||||,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|7/15|c.652-17C>T||||||,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000449944|protein_coding|8/8|c.727-17C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|9/17|c.532-17C>T||||||,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000481613|retained_intron|3/3|n.283-17C>T|||||| 22 38019677 . C A,G,T . . ANN=A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|10/17|c.832+37C>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|8/17|c.832+37C>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|6/17|c.832+37C>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|7/17|c.832+37C>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|9/17|c.832+37C>A||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|10/17|c.832+37C>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|8/17|c.832+37C>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|6/17|c.832+37C>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|7/17|c.832+37C>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|9/17|c.832+37C>G||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|10/17|c.832+37C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|8/17|c.832+37C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|6/17|c.832+37C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|7/17|c.832+37C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|9/17|c.832+37C>T||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000343632|protein_coding|10/17|c.832+37C>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000343632|protein_coding|9/17|c.832+37C>A||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000343632|protein_coding|10/17|c.832+37C>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000343632|protein_coding|9/17|c.832+37C>G||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000343632|protein_coding|10/17|c.832+37C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000343632|protein_coding|9/17|c.832+37C>T||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|9/16|c.733+37C>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|7/16|c.733+37C>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|5/16|c.733+37C>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|6/16|c.733+37C>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|8/16|c.733+37C>A||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|9/16|c.733+37C>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|7/16|c.733+37C>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|5/16|c.733+37C>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|6/16|c.733+37C>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|8/16|c.733+37C>G||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|9/16|c.733+37C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|7/16|c.733+37C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|5/16|c.733+37C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|6/16|c.733+37C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|8/16|c.733+37C>T||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000337437|protein_coding|9/16|c.733+37C>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000337437|protein_coding|8/16|c.733+37C>A||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000337437|protein_coding|9/16|c.733+37C>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000337437|protein_coding|8/16|c.733+37C>G||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000337437|protein_coding|9/16|c.733+37C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000337437|protein_coding|8/16|c.733+37C>T||||||,A|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000475445|retained_intron||n.-1C>A|||||159|,G|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000475445|retained_intron||n.-1C>G|||||159|,T|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000475445|retained_intron||n.-1C>T|||||159|,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000405147|protein_coding||c.*345C>A|||||3626|,G|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000405147|protein_coding||c.*345C>G|||||3626|,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000405147|protein_coding||c.*345C>T|||||3626|,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000429218|protein_coding||c.*566C>A|||||2039|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000429218|protein_coding||c.*566C>G|||||2039|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000429218|protein_coding||c.*566C>T|||||2039|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000439161|protein_coding||c.*568C>A|||||3338|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000439161|protein_coding||c.*568C>G|||||3338|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000439161|protein_coding||c.*568C>T|||||3338|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000449944|protein_coding||c.*927C>A|||||106|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000449944|protein_coding||c.*927C>G|||||106|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000449944|protein_coding||c.*927C>T|||||106|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000411501|protein_coding||c.*661C>A|||||3395|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000411501|protein_coding||c.*661C>G|||||3395|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000411501|protein_coding||c.*661C>T|||||3395|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000453208|protein_coding||c.*639C>A|||||2854|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000453208|protein_coding||c.*639C>G|||||2854|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000453208|protein_coding||c.*639C>T|||||2854|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000326597|protein_coding||c.*946C>A|||||3403|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000326597|protein_coding||c.*946C>G|||||3403|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000326597|protein_coding||c.*946C>T|||||3403|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000413251|protein_coding||c.*565C>A|||||2038|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000413251|protein_coding||c.*565C>G|||||2038|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000413251|protein_coding||c.*565C>T|||||2038|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000423024|protein_coding||c.*559C>A|||||2038|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000423024|protein_coding||c.*559C>G|||||2038|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000423024|protein_coding||c.*559C>T|||||2038|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000491295|retained_intron||n.*594C>A|||||3421|,G|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000491295|retained_intron||n.*594C>G|||||3421|,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000491295|retained_intron||n.*594C>T|||||3421|,A|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|9/16|c.883+37C>A||||||,G|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|9/16|c.883+37C>G||||||,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|9/16|c.883+37C>T||||||,A|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|9/16|c.832+37C>A||||||,G|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|9/16|c.832+37C>G||||||,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|9/16|c.832+37C>T||||||,A|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|9/14|c.832+37C>A||||||,G|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST000003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22 38021036 . T C . . ANN=C|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|10/17|c.944T>C|p.Val315Ala|1080/2107|944/1971|315/656||,C|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|10/17|c.893T>C|p.Val298Ala|1279/3159|893/1920|298/639||,C|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|9/16|c.794T>C|p.Val265Ala|809/2688|794/1821|265/606||,C|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|11/18|c.674T>C|p.Val225Ala|1326/3205|674/1701|225/566||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|10/17|c.893T>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|8/17|c.893T>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|6/17|c.893T>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|7/17|c.893T>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|9/17|c.893T>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000343632|protein_coding|10/17|c.893T>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000343632|protein_coding|9/17|c.893T>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|9/16|c.794T>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|7/16|c.794T>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|5/16|c.794T>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|6/16|c.794T>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|8/16|c.794T>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000337437|protein_coding|9/16|c.794T>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000337437|protein_coding|8/16|c.794T>C||||||,C|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000463672|retained_intron||n.-1T>C|||||4433|,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000405147|protein_coding||c.*345T>C|||||4985|,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000429218|protein_coding||c.*566T>C|||||3398|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000439161|protein_coding||c.*568T>C|||||4697|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000449944|protein_coding||c.*927T>C|||||1465|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000411501|protein_coding||c.*661T>C|||||4754|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000453208|protein_coding||c.*639T>C|||||4213|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000326597|protein_coding||c.*946T>C|||||4762|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000413251|protein_coding||c.*565T>C|||||3397|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000423024|protein_coding||c.*559T>C|||||3397|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000491295|retained_intron||n.*594T>C|||||4780|,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000481613|retained_intron||n.*647T>C|||||1113|,C|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|9/14|c.832+1396T>C||||||,C|non_coding_exon_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000475445|retained_intron|1/2|n.1201T>C|||||| 22 38021070 . C T . . ANN=T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|10/17|c.978C>T|p.Ala326Ala|1114/2107|978/1971|326/656||,T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|10/17|c.927C>T|p.Ala309Ala|1313/3159|927/1920|309/639||,T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|9/16|c.828C>T|p.Ala276Ala|843/2688|828/1821|276/606||,T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|11/18|c.708C>T|p.Ala236Ala|1360/3205|708/1701|236/566||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|10/17|c.927C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|12/17|c.927C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|13/17|c.927C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|11/17|c.927C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|14/17|c.927C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|9/16|c.828C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|11/16|c.828C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|12/16|c.828C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|10/16|c.828C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|13/16|c.828C>T||||||,T|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000463672|retained_intron||n.-1C>T|||||4399|,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000429218|protein_coding||c.*566C>T|||||3432|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000439161|protein_coding||c.*568C>T|||||4731|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000449944|protein_coding||c.*927C>T|||||1499|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000411501|protein_coding||c.*661C>T|||||4788|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000453208|protein_coding||c.*639C>T|||||4247|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000326597|protein_coding||c.*946C>T|||||4796|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000413251|protein_coding||c.*565C>T|||||3431|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000423024|protein_coding||c.*559C>T|||||3431|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000491295|retained_intron||n.*594C>T|||||4814|,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000481613|retained_intron||n.*647C>T|||||1147|,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|9/14|c.832+1430C>T||||||,T|non_coding_exon_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000475445|retained_intron|1/2|n.1235C>T|||||| 22 38021761 . C CGT . . ANN=GT|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|10/17|c.941-43_941-42insGT||||||,GT|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|12/17|c.941-43_941-42insGT||||||,GT|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|13/17|c.941-43_941-42insGT||||||,GT|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|11/17|c.941-43_941-42insGT||||||,GT|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|14/17|c.941-43_941-42insGT||||||,GT|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|9/16|c.842-43_842-42insGT||||||,GT|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|11/16|c.842-43_842-42insGT||||||,GT|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|12/16|c.842-43_842-42insGT||||||,GT|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|10/16|c.842-43_842-42insGT||||||,GT|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|13/16|c.842-43_842-42insGT||||||,GT|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000463672|retained_intron||n.-1_-1insGT|||||3707|,GT|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000460957|retained_intron||n.-1_-1insGT|||||4913|,GT|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000429218|protein_coding||c.*566_*566insGT|||||4124|WARNING_TRANSCRIPT_INCOMPLETE,GT|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000449944|protein_coding||c.*927_*927insGT|||||2191|WARNING_TRANSCRIPT_INCOMPLETE,GT|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000453208|protein_coding||c.*639_*639insGT|||||4939|WARNING_TRANSCRIPT_INCOMPLETE,GT|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000413251|protein_coding||c.*565_*565insGT|||||4123|WARNING_TRANSCRIPT_INCOMPLETE,GT|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000423024|protein_coding||c.*559_*559insGT|||||4123|WARNING_TRANSCRIPT_INCOMPLETE,GT|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000481613|retained_intron||n.*647_*647insGT|||||1839|,GT|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|10/16|c.992-40_992-39dupGT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|10/16|c.941-40_941-39dupGT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|9/14|c.832+2124_832+2125dupGT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|9/15|c.842-40_842-39dupGT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|11/17|c.722-40_722-39dupGT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000475445|retained_intron|1/1|n.1249-40_1249-39dupGT||||||INFO_REALIGN_3_PRIME 22 38021777 . T A . . ANN=A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|10/17|c.941-27T>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|12/17|c.941-27T>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|13/17|c.941-27T>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|11/17|c.941-27T>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|14/17|c.941-27T>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|9/16|c.842-27T>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|11/16|c.842-27T>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|12/16|c.842-27T>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|10/16|c.842-27T>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|13/16|c.842-27T>A||||||,A|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000463672|retained_intron||n.-1T>A|||||3692|,A|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000460957|retained_intron||n.-1T>A|||||4898|,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000429218|protein_coding||c.*566T>A|||||4139|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000449944|protein_coding||c.*927T>A|||||2206|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000453208|protein_coding||c.*639T>A|||||4954|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000413251|protein_coding||c.*565T>A|||||4138|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000423024|protein_coding||c.*559T>A|||||4138|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000481613|retained_intron||n.*647T>A|||||1854|,A|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|10/16|c.992-27T>A||||||,A|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|10/16|c.941-27T>A||||||,A|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|9/14|c.832+2137T>A||||||,A|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|9/15|c.842-27T>A||||||,A|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|11/17|c.722-27T>A||||||,A|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000475445|retained_intron|1/1|n.1249-27T>A|||||| 22 38021796 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|10/16|c.992-8C>T||||||,T|splice_region_variant&intron_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|10/16|c.941-8C>T||||||,T|splice_region_variant&intron_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|9/15|c.842-8C>T||||||,T|splice_region_variant&intron_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|11/17|c.722-8C>T||||||,T|splice_region_variant&intron_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000475445|retained_intron|1/1|n.1249-8C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|10/17|c.941-8C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|12/17|c.941-8C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|13/17|c.941-8C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|11/17|c.941-8C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|14/17|c.941-8C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|9/16|c.842-8C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|11/16|c.842-8C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|12/16|c.842-8C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|10/16|c.842-8C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|13/16|c.842-8C>T||||||,T|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000463672|retained_intron||n.-1C>T|||||3673|,T|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000460957|retained_intron||n.-1C>T|||||4879|,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000429218|protein_coding||c.*566C>T|||||4158|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000449944|protein_coding||c.*927C>T|||||2225|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000453208|protein_coding||c.*639C>T|||||4973|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000413251|protein_coding||c.*565C>T|||||4157|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000423024|protein_coding||c.*559C>T|||||4157|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000481613|retained_intron||n.*647C>T|||||1873|,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|9/14|c.832+2156C>T|||||| 22 38021882 . G A . . ANN=A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|11/17|c.1070G>A|p.Arg357His|1206/2107|1070/1971|357/656||,A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|11/17|c.1019G>A|p.Arg340His|1405/3159|1019/1920|340/639||,A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|10/16|c.920G>A|p.Arg307His|935/2688|920/1821|307/606||,A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|12/18|c.800G>A|p.Arg267His|1452/3205|800/1701|267/566||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|10/17|c.1019G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|12/17|c.1019G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|13/17|c.1019G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|11/17|c.1019G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|14/17|c.1019G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|9/16|c.920G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|11/16|c.920G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|12/16|c.920G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|10/16|c.920G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|13/16|c.920G>A||||||,A|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000463672|retained_intron||n.-1G>A|||||3587|,A|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000460957|retained_intron||n.-1G>A|||||4793|,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000429218|protein_coding||c.*566G>A|||||4244|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000449944|protein_coding||c.*927G>A|||||2311|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000413251|protein_coding||c.*565G>A|||||4243|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000423024|protein_coding||c.*559G>A|||||4243|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000481613|retained_intron||n.*647G>A|||||1959|,A|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|9/14|c.832+2242G>A||||||,A|non_coding_exon_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000475445|retained_intron|2/2|n.1327G>A|||||| 22 38021889 . C T . . ANN=T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|11/17|c.1077C>T|p.Gly359Gly|1213/2107|1077/1971|359/656||,T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|11/17|c.1026C>T|p.Gly342Gly|1412/3159|1026/1920|342/639||,T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|10/16|c.927C>T|p.Gly309Gly|942/2688|927/1821|309/606||,T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|12/18|c.807C>T|p.Gly269Gly|1459/3205|807/1701|269/566||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|10/17|c.1026C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|12/17|c.1026C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|13/17|c.1026C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|11/17|c.1026C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|14/17|c.1026C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|9/16|c.927C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|11/16|c.927C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|12/16|c.927C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|10/16|c.927C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|13/16|c.927C>T||||||,T|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000463672|retained_intron||n.-1C>T|||||3580|,T|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000460957|retained_intron||n.-1C>T|||||4786|,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000429218|protein_coding||c.*566C>T|||||4251|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000449944|protein_coding||c.*927C>T|||||2318|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000413251|protein_coding||c.*565C>T|||||4250|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000423024|protein_coding||c.*559C>T|||||4250|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000481613|retained_intron||n.*647C>T|||||1966|,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|9/14|c.832+2249C>T||||||,T|non_coding_exon_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000475445|retained_intron|2/2|n.1334C>T|||||| 22 38025497 . C T . . ANN=T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|12/17|c.1173C>T|p.Gly391Gly|1309/2107|1173/1971|391/656||,T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|12/17|c.1122C>T|p.Gly374Gly|1508/3159|1122/1920|374/639||,T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|10/15|c.861C>T|p.Gly287Gly|877/2528|861/1659|287/552||,T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|11/16|c.1023C>T|p.Gly341Gly|1038/2688|1023/1821|341/606||,T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|13/18|c.903C>T|p.Gly301Gly|1555/3205|903/1701|301/566||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|10/17|c.1122C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|12/17|c.1122C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|13/17|c.1122C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|11/17|c.1122C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|14/17|c.1122C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|9/16|c.1023C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|11/16|c.1023C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|12/16|c.1023C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|10/16|c.1023C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|13/16|c.1023C>T||||||,T|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000460957|retained_intron||n.-1C>T|||||1178|,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000475445|retained_intron||n.*2614C>T|||||2328|,T|non_coding_exon_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000463672|retained_intron|1/2|n.29C>T|||||| 22 38025556 . T C . . ANN=C|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|10/17|c.1158+23T>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|12/17|c.1158+23T>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|13/17|c.1158+23T>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|11/17|c.1158+23T>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|14/17|c.1158+23T>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|9/16|c.1059+23T>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|11/16|c.1059+23T>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|12/16|c.1059+23T>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|10/16|c.1059+23T>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|13/16|c.1059+23T>C||||||,C|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000460957|retained_intron||n.-1T>C|||||1119|,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000475445|retained_intron||n.*2614T>C|||||2387|,C|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|12/16|c.1209+23T>C||||||,C|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|12/16|c.1158+23T>C||||||,C|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|10/14|c.897+23T>C||||||,C|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|11/15|c.1059+23T>C||||||,C|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|13/17|c.939+23T>C||||||,C|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000463672|retained_intron|1/1|n.65+23T>C|||||| 22 38026059 . G A . . ANN=A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|13/17|c.1264G>A|p.Glu422Lys|1400/2107|1264/1971|422/656||,A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|13/17|c.1213G>A|p.Glu405Lys|1599/3159|1213/1920|405/639||,A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|11/15|c.952G>A|p.Glu318Lys|968/2528|952/1659|318/552||,A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|12/16|c.1114G>A|p.Glu372Lys|1129/2688|1114/1821|372/606||,A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|14/18|c.994G>A|p.Glu332Lys|1646/3205|994/1701|332/566||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|10/17|c.1213G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|12/17|c.1213G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|13/17|c.1213G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|11/17|c.1213G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|14/17|c.1213G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|9/16|c.1114G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|11/16|c.1114G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|12/16|c.1114G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|10/16|c.1114G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|13/16|c.1114G>A||||||,A|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000460957|retained_intron||n.-1G>A|||||616|,A|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay||n.-939G>A|||||4602|,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000475445|retained_intron||n.*2614G>A|||||2890|,A|non_coding_exon_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000463672|retained_intron|2/2|n.120G>A|||||| 22 38026075 . C T . . ANN=T|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|13/17|c.1280C>T|p.Ala427Val|1416/2107|1280/1971|427/656||,T|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|13/17|c.1229C>T|p.Ala410Val|1615/3159|1229/1920|410/639||,T|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|11/15|c.968C>T|p.Ala323Val|984/2528|968/1659|323/552||,T|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|12/16|c.1130C>T|p.Ala377Val|1145/2688|1130/1821|377/606||,T|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|14/18|c.1010C>T|p.Ala337Val|1662/3205|1010/1701|337/566||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|10/17|c.1229C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|12/17|c.1229C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|13/17|c.1229C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|11/17|c.1229C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|14/17|c.1229C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|9/16|c.1130C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|11/16|c.1130C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|12/16|c.1130C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|10/16|c.1130C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|13/16|c.1130C>T||||||,T|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000460957|retained_intron||n.-1C>T|||||600|,T|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay||n.-939C>T|||||4586|,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000475445|retained_intron||n.*2614C>T|||||2906|,T|non_coding_exon_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000463672|retained_intron|2/2|n.136C>T|||||| 22 38026077 . C G . . ANN=G|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|13/17|c.1282C>G|p.Gln428Glu|1418/2107|1282/1971|428/656||,G|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|13/17|c.1231C>G|p.Gln411Glu|1617/3159|1231/1920|411/639||,G|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|11/15|c.970C>G|p.Gln324Glu|986/2528|970/1659|324/552||,G|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|12/16|c.1132C>G|p.Gln378Glu|1147/2688|1132/1821|378/606||,G|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|14/18|c.1012C>G|p.Gln338Glu|1664/3205|1012/1701|338/566||,G|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|10/17|c.1231C>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|12/17|c.1231C>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|13/17|c.1231C>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|11/17|c.1231C>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|14/17|c.1231C>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|9/16|c.1132C>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|11/16|c.1132C>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|12/16|c.1132C>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|10/16|c.1132C>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|13/16|c.1132C>G||||||,G|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000460957|retained_intron||n.-1C>G|||||598|,G|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay||n.-939C>G|||||4584|,G|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000475445|retained_intron||n.*2614C>G|||||2908|,G|non_coding_exon_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000463672|retained_intron|2/2|n.138C>G|||||| 22 38026109 . C T . . ANN=T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|13/17|c.1314C>T|p.Asp438Asp|1450/2107|1314/1971|438/656||,T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|13/17|c.1263C>T|p.Asp421Asp|1649/3159|1263/1920|421/639||,T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|11/15|c.1002C>T|p.Asp334Asp|1018/2528|1002/1659|334/552||,T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|12/16|c.1164C>T|p.Asp388Asp|1179/2688|1164/1821|388/606||,T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|14/18|c.1044C>T|p.Asp348Asp|1696/3205|1044/1701|348/566||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|10/17|c.1263C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|12/17|c.1263C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|13/17|c.1263C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|11/17|c.1263C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|14/17|c.1263C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|9/16|c.1164C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|11/16|c.1164C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|12/16|c.1164C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|10/16|c.1164C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|13/16|c.1164C>T||||||,T|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000460957|retained_intron||n.-1C>T|||||566|,T|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay||n.-939C>T|||||4552|,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000475445|retained_intron||n.*2614C>T|||||2940|,T|non_coding_exon_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000463672|retained_intron|2/2|n.170C>T|||||| 22 38026215 . C T . . ANN=T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|10/17|c.1331+38C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|12/17|c.1331+38C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|13/17|c.1331+38C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|11/17|c.1331+38C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|14/17|c.1331+38C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|9/16|c.1232+38C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|11/16|c.1232+38C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|12/16|c.1232+38C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|10/16|c.1232+38C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|13/16|c.1232+38C>T||||||,T|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000460957|retained_intron||n.-1C>T|||||460|,T|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay||n.-939C>T|||||4446|,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000475445|retained_intron||n.*2614C>T|||||3046|,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|13/16|c.1382+38C>T||||||,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|13/16|c.1331+38C>T||||||,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|11/14|c.1070+38C>T||||||,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|12/15|c.1232+38C>T||||||,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|14/17|c.1112+38C>T||||||,T|non_coding_exon_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000463672|retained_intron|2/2|n.276C>T|||||| 22 38026965 . A G . . ANN=G|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|14/17|c.1438A>G|p.Ser480Gly|1574/2107|1438/1971|480/656||,G|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|14/17|c.1387A>G|p.Ser463Gly|1773/3159|1387/1920|463/639||,G|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|12/15|c.1126A>G|p.Ser376Gly|1142/2528|1126/1659|376/552||,G|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|13/16|c.1288A>G|p.Ser430Gly|1303/2688|1288/1821|430/606||,G|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|15/18|c.1168A>G|p.Ser390Gly|1820/3205|1168/1701|390/566||,G|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|10/17|c.1387A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|12/17|c.1387A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|13/17|c.1387A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|11/17|c.1387A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|14/17|c.1387A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|9/16|c.1288A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|11/16|c.1288A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|12/16|c.1288A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|10/16|c.1288A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|13/16|c.1288A>G||||||,G|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay||n.-939A>G|||||3696|,G|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000475445|retained_intron||n.*2614A>G|||||3796|,G|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000463672|retained_intron||n.*367A>G|||||659|,G|non_coding_exon_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000460957|retained_intron|1/4|n.291A>G|||||| 22 38027012 . C T . . ANN=T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|14/17|c.1485C>T|p.Thr495Thr|1621/2107|1485/1971|495/656||,T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|14/17|c.1434C>T|p.Thr478Thr|1820/3159|1434/1920|478/639||,T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|12/15|c.1173C>T|p.Thr391Thr|1189/2528|1173/1659|391/552||,T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|13/16|c.1335C>T|p.Thr445Thr|1350/2688|1335/1821|445/606||,T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|15/18|c.1215C>T|p.Thr405Thr|1867/3205|1215/1701|405/566||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|10/17|c.1434C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|12/17|c.1434C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|13/17|c.1434C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|11/17|c.1434C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|14/17|c.1434C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|9/16|c.1335C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|11/16|c.1335C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|12/16|c.1335C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|10/16|c.1335C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|13/16|c.1335C>T||||||,T|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay||n.-939C>T|||||3649|,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000475445|retained_intron||n.*2614C>T|||||3843|,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000463672|retained_intron||n.*367C>T|||||706|,T|non_coding_exon_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000460957|retained_intron|1/4|n.338C>T|||||| 22 38027013 . G A . . ANN=A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|14/17|c.1486G>A|p.Val496Met|1622/2107|1486/1971|496/656||,A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|14/17|c.1435G>A|p.Val479Met|1821/3159|1435/1920|479/639||,A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|12/15|c.1174G>A|p.Val392Met|1190/2528|1174/1659|392/552||,A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|13/16|c.1336G>A|p.Val446Met|1351/2688|1336/1821|446/606||,A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|15/18|c.1216G>A|p.Val406Met|1868/3205|1216/1701|406/566||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|10/17|c.1435G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|12/17|c.1435G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|13/17|c.1435G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|11/17|c.1435G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|14/17|c.1435G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|9/16|c.1336G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|11/16|c.1336G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|12/16|c.1336G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|10/16|c.1336G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|13/16|c.1336G>A||||||,A|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay||n.-939G>A|||||3648|,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000475445|retained_intron||n.*2614G>A|||||3844|,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000463672|retained_intron||n.*367G>A|||||707|,A|non_coding_exon_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000460957|retained_intron|1/4|n.339G>A|||||| 22 38028016 . C T . . ANN=T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|15/17|c.1593C>T|p.Pro531Pro|1729/2107|1593/1971|531/656||,T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|15/17|c.1542C>T|p.Pro514Pro|1928/3159|1542/1920|514/639||,T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|13/15|c.1281C>T|p.Pro427Pro|1297/2528|1281/1659|427/552||,T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|14/16|c.1443C>T|p.Pro481Pro|1458/2688|1443/1821|481/606||,T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|16/18|c.1323C>T|p.Pro441Pro|1975/3205|1323/1701|441/566||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|17/17|c.1542C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|16/17|c.1542C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|14/17|c.1542C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|15/17|c.1542C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|15/15|c.1281C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|14/15|c.1281C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|12/15|c.1281C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|13/15|c.1281C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|16/16|c.1443C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|15/16|c.1443C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|13/16|c.1443C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|14/16|c.1443C>T||||||,T|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay||n.-939C>T|||||2645|,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000475445|retained_intron||n.*2614C>T|||||4847|,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000463672|retained_intron||n.*367C>T|||||1710|,T|non_coding_exon_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000460957|retained_intron|2/4|n.446C>T|||||| 22 38028046 . C T . . ANN=T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|15/17|c.1623C>T|p.Arg541Arg|1759/2107|1623/1971|541/656||,T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|15/17|c.1572C>T|p.Arg524Arg|1958/3159|1572/1920|524/639||,T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|13/15|c.1311C>T|p.Arg437Arg|1327/2528|1311/1659|437/552||,T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|14/16|c.1473C>T|p.Arg491Arg|1488/2688|1473/1821|491/606||,T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|16/18|c.1353C>T|p.Arg451Arg|2005/3205|1353/1701|451/566||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|17/17|c.1572C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|16/17|c.1572C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|14/17|c.1572C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|15/17|c.1572C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|beta_strand|ENST00000343632|protein_coding|15/17|c.1572C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|15/15|c.1311C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|14/15|c.1311C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|12/15|c.1311C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|13/15|c.1311C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|beta_strand|ENST00000325180|protein_coding|13/15|c.1311C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|16/16|c.1473C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|15/16|c.1473C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|13/16|c.1473C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|14/16|c.1473C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|beta_strand|ENST00000337437|protein_coding|14/16|c.1473C>T||||||,T|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay||n.-939C>T|||||2615|,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000475445|retained_intron||n.*2614C>T|||||4877|,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000463672|retained_intron||n.*367C>T|||||1740|,T|TF_binding_site_variant|MODIFIER|||Gabp|MA0062.2|||||||||,T|non_coding_exon_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000460957|retained_intron|2/4|n.476C>T|||||| 22 38028073 . A G . . ANN=G|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|15/17|c.1650A>G|p.Pro550Pro|1786/2107|1650/1971|550/656||,G|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|15/17|c.1599A>G|p.Pro533Pro|1985/3159|1599/1920|533/639||,G|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|13/15|c.1338A>G|p.Pro446Pro|1354/2528|1338/1659|446/552||,G|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|14/16|c.1500A>G|p.Pro500Pro|1515/2688|1500/1821|500/606||,G|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|16/18|c.1380A>G|p.Pro460Pro|2032/3205|1380/1701|460/566||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|17/17|c.1599A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|16/17|c.1599A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|14/17|c.1599A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|15/17|c.1599A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|beta_strand|ENST00000343632|protein_coding|15/17|c.1599A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|15/15|c.1338A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|14/15|c.1338A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|12/15|c.1338A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|13/15|c.1338A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|beta_strand|ENST00000325180|protein_coding|13/15|c.1338A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|16/16|c.1500A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|15/16|c.1500A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|13/16|c.1500A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|14/16|c.1500A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|beta_strand|ENST00000337437|protein_coding|14/16|c.1500A>G||||||,G|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay||n.-939A>G|||||2588|,G|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000475445|retained_intron||n.*2614A>G|||||4904|,G|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000463672|retained_intron||n.*367A>G|||||1767|,G|non_coding_exon_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000460957|retained_intron|2/4|n.503A>G|||||| 22 38028076 . G T . . ANN=T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|15/17|c.1653G>T|p.Leu551Leu|1789/2107|1653/1971|551/656||,T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|15/17|c.1602G>T|p.Leu534Leu|1988/3159|1602/1920|534/639||,T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|13/15|c.1341G>T|p.Leu447Leu|1357/2528|1341/1659|447/552||,T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|14/16|c.1503G>T|p.Leu501Leu|1518/2688|1503/1821|501/606||,T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|16/18|c.1383G>T|p.Leu461Leu|2035/3205|1383/1701|461/566||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|17/17|c.1602G>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|16/17|c.1602G>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|14/17|c.1602G>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|15/17|c.1602G>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|beta_strand|ENST00000343632|protein_coding|15/17|c.1602G>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|15/15|c.1341G>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|14/15|c.1341G>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|12/15|c.1341G>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|13/15|c.1341G>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|beta_strand|ENST00000325180|protein_coding|13/15|c.1341G>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|16/16|c.1503G>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|15/16|c.1503G>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|13/16|c.1503G>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|14/16|c.1503G>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|beta_strand|ENST00000337437|protein_coding|14/16|c.1503G>T||||||,T|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay||n.-939G>T|||||2585|,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000475445|retained_intron||n.*2614G>T|||||4907|,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000463672|retained_intron||n.*367G>T|||||1770|,T|non_coding_exon_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000460957|retained_intron|2/4|n.506G>T|||||| 22 38028094 . G A . . ANN=A|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|15/17|c.1671G>A|p.Val557Val|1807/2107|1671/1971|557/656||,A|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|15/17|c.1620G>A|p.Val540Val|2006/3159|1620/1920|540/639||,A|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|13/15|c.1359G>A|p.Val453Val|1375/2528|1359/1659|453/552||,A|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|14/16|c.1521G>A|p.Val507Val|1536/2688|1521/1821|507/606||,A|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|16/18|c.1401G>A|p.Val467Val|2053/3205|1401/1701|467/566||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|17/17|c.1620G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|16/17|c.1620G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|14/17|c.1620G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|15/17|c.1620G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|beta_strand|ENST00000343632|protein_coding|15/17|c.1620G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|15/15|c.1359G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|14/15|c.1359G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|12/15|c.1359G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|13/15|c.1359G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|beta_strand|ENST00000325180|protein_coding|13/15|c.1359G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|16/16|c.1521G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|15/16|c.1521G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|13/16|c.1521G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|14/16|c.1521G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|beta_strand|ENST00000337437|protein_coding|14/16|c.1521G>A||||||,A|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay||n.-939G>A|||||2567|,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000475445|retained_intron||n.*2614G>A|||||4925|,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000463672|retained_intron||n.*367G>A|||||1788|,A|non_coding_exon_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000460957|retained_intron|2/4|n.524G>A|||||| 22 38028441 . G A . . ANN=A|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|16/17|c.1779G>A|p.Ser593Ser|1915/2107|1779/1971|593/656||,A|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|16/17|c.1728G>A|p.Ser576Ser|2114/3159|1728/1920|576/639||,A|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|14/15|c.1467G>A|p.Ser489Ser|1483/2528|1467/1659|489/552||,A|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|15/16|c.1629G>A|p.Ser543Ser|1644/2688|1629/1821|543/606||,A|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|17/18|c.1509G>A|p.Ser503Ser|2161/3205|1509/1701|503/566||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|17/17|c.1728G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|16/17|c.1728G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|14/17|c.1728G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|15/17|c.1728G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|15/15|c.1467G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|14/15|c.1467G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|12/15|c.1467G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|13/15|c.1467G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|16/16|c.1629G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|15/16|c.1629G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|13/16|c.1629G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|14/16|c.1629G>A||||||,A|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay||n.-939G>A|||||2220|,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000463672|retained_intron||n.*367G>A|||||2135|,A|non_coding_exon_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000460957|retained_intron|3/4|n.632G>A|||||| 22 38028456 . A G . . ANN=G|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|16/17|c.1794A>G|p.Pro598Pro|1930/2107|1794/1971|598/656||,G|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|16/17|c.1743A>G|p.Pro581Pro|2129/3159|1743/1920|581/639||,G|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|14/15|c.1482A>G|p.Pro494Pro|1498/2528|1482/1659|494/552||,G|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|15/16|c.1644A>G|p.Pro548Pro|1659/2688|1644/1821|548/606||,G|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|17/18|c.1524A>G|p.Pro508Pro|2176/3205|1524/1701|508/566||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|17/17|c.1743A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|16/17|c.1743A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|14/17|c.1743A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|15/17|c.1743A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|15/15|c.1482A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|14/15|c.1482A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|12/15|c.1482A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|13/15|c.1482A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|16/16|c.1644A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|15/16|c.1644A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|13/16|c.1644A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|14/16|c.1644A>G||||||,G|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay||n.-939A>G|||||2205|,G|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000463672|retained_intron||n.*367A>G|||||2150|,G|non_coding_exon_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000460957|retained_intron|3/4|n.647A>G|||||| 22 38028471 . C T . . ANN=T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|16/17|c.1809C>T|p.Ile603Ile|1945/2107|1809/1971|603/656||,T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|16/17|c.1758C>T|p.Ile586Ile|2144/3159|1758/1920|586/639||,T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|14/15|c.1497C>T|p.Ile499Ile|1513/2528|1497/1659|499/552||,T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|15/16|c.1659C>T|p.Ile553Ile|1674/2688|1659/1821|553/606||,T|synonymous_variant|LOW|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|17/18|c.1539C>T|p.Ile513Ile|2191/3205|1539/1701|513/566||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|17/17|c.1758C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|16/17|c.1758C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|14/17|c.1758C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|15/17|c.1758C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|15/15|c.1497C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|14/15|c.1497C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|12/15|c.1497C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|13/15|c.1497C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|16/16|c.1659C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|15/16|c.1659C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|13/16|c.1659C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|14/16|c.1659C>T||||||,T|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay||n.-939C>T|||||2190|,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000463672|retained_intron||n.*367C>T|||||2165|,T|non_coding_exon_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000460957|retained_intron|3/4|n.662C>T|||||| 22 38028558 . CG C . . ANN=|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|17/17|c.1809+37delG||||||,|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|16/17|c.1809+37delG||||||,|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|14/17|c.1809+37delG||||||,|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|15/17|c.1809+37delG||||||,|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|15/15|c.1548+37delG||||||,|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|14/15|c.1548+37delG||||||,|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|12/15|c.1548+37delG||||||,|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|13/15|c.1548+37delG||||||,|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|16/16|c.1710+37delG||||||,|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|15/16|c.1710+37delG||||||,|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|13/16|c.1710+37delG||||||,|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|14/16|c.1710+37delG||||||,|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay||n.-939delG|||||2102|,|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000463672|retained_intron||n.*367delG|||||2253|,|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|16/16|c.1860+38delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|16/16|c.1809+38delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|14/14|c.1548+38delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|15/15|c.1710+38delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|17/17|c.1590+38delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000460957|retained_intron|3/3|n.713+38delG||||||INFO_REALIGN_3_PRIME 22 38028566 . TCTC T . . ANN=|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|17/17|c.1810-41_1810-39delCTC||||||,|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|16/17|c.1810-41_1810-39delCTC||||||,|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|14/17|c.1810-41_1810-39delCTC||||||,|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|15/17|c.1810-41_1810-39delCTC||||||,|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|15/15|c.1549-41_1549-39delCTC||||||,|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|14/15|c.1549-41_1549-39delCTC||||||,|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|12/15|c.1549-41_1549-39delCTC||||||,|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|13/15|c.1549-41_1549-39delCTC||||||,|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|16/16|c.1711-41_1711-39delCTC||||||,|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|15/16|c.1711-41_1711-39delCTC||||||,|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|13/16|c.1711-41_1711-39delCTC||||||,|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|14/16|c.1711-41_1711-39delCTC||||||,|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay||n.-939_-939delCTC|||||2094|,|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000463672|retained_intron||n.*367_*367delCTC|||||2261|,|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|16/16|c.1861-35_1861-33delCTC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|16/16|c.1810-35_1810-33delCTC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|14/14|c.1549-35_1549-33delCTC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|15/15|c.1711-35_1711-33delCTC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|17/17|c.1591-35_1591-33delCTC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000460957|retained_intron|3/3|n.714-35_714-33delCTC||||||INFO_REALIGN_3_PRIME 22 38028582 . C T . . ANN=T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|17/17|c.1810-26C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|16/17|c.1810-26C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|14/17|c.1810-26C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|15/17|c.1810-26C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|15/15|c.1549-26C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|14/15|c.1549-26C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|12/15|c.1549-26C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|13/15|c.1549-26C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|16/16|c.1711-26C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|15/16|c.1711-26C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|13/16|c.1711-26C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|14/16|c.1711-26C>T||||||,T|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay||n.-939C>T|||||2079|,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000463672|retained_intron||n.*367C>T|||||2276|,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|16/16|c.1861-26C>T||||||,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|16/16|c.1810-26C>T||||||,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|14/14|c.1549-26C>T||||||,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|15/15|c.1711-26C>T||||||,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|17/17|c.1591-26C>T||||||,T|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000460957|retained_intron|3/3|n.714-26C>T|||||| 22 38028618 . G A . . ANN=A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|17/17|c.1871G>A|p.Arg624His|2007/2107|1871/1971|624/656||,A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|17/17|c.1820G>A|p.Arg607His|2206/3159|1820/1920|607/639||,A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|15/15|c.1559G>A|p.Arg520His|1575/2528|1559/1659|520/552||,A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|16/16|c.1721G>A|p.Arg574His|1736/2688|1721/1821|574/606||,A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|18/18|c.1601G>A|p.Arg534His|2253/3205|1601/1701|534/566||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|17/17|c.1820G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|16/17|c.1820G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|14/17|c.1820G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|15/17|c.1820G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|15/15|c.1559G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|14/15|c.1559G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|12/15|c.1559G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|13/15|c.1559G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|16/16|c.1721G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|15/16|c.1721G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|13/16|c.1721G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|14/16|c.1721G>A||||||,A|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay||n.-939G>A|||||2043|,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000463672|retained_intron||n.*367G>A|||||2312|,A|non_coding_exon_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000460957|retained_intron|4/4|n.724G>A|||||| 22 38028644 . A G . . ANN=G|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|17/17|c.1897A>G|p.Met633Val|2033/2107|1897/1971|633/656||,G|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|17/17|c.1846A>G|p.Met616Val|2232/3159|1846/1920|616/639||,G|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|15/15|c.1585A>G|p.Met529Val|1601/2528|1585/1659|529/552||,G|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|16/16|c.1747A>G|p.Met583Val|1762/2688|1747/1821|583/606||,G|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|18/18|c.1627A>G|p.Met543Val|2279/3205|1627/1701|543/566||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|17/17|c.1846A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|16/17|c.1846A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|14/17|c.1846A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|15/17|c.1846A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|beta_strand|ENST00000343632|protein_coding|17/17|c.1846A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|15/15|c.1585A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|14/15|c.1585A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|12/15|c.1585A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|13/15|c.1585A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|beta_strand|ENST00000325180|protein_coding|15/15|c.1585A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|16/16|c.1747A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|15/16|c.1747A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|13/16|c.1747A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|14/16|c.1747A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|beta_strand|ENST00000337437|protein_coding|16/16|c.1747A>G||||||,G|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay||n.-939A>G|||||2017|,G|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000463672|retained_intron||n.*367A>G|||||2338|,G|non_coding_exon_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000460957|retained_intron|4/4|n.750A>G|||||| 22 38035777 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|1/18|c.-18C>T|||||18|,T|5_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|2/20|n.-18C>T|||||18|,T|5_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|1/15|c.-18C>T|||||18|,T|5_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|1/17|n.-18C>T|||||18|,T|5_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|1/17|c.-18C>T|||||18|,T|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron||n.-1C>T|||||616|,T|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript||n.-1C>T|||||1612|,T|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding||c.-1C>T|||||1694|,T|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron||n.-1C>T|||||3685|,T|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron||n.-1C>T|||||3944|,T|downstream_gene_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense||n.*1945G>A|||||2062|,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|2/20|n.-18C>T||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|1/17|n.-18C>T|||||| 22 38035851 . A G . . ANN=G|splice_region_variant&synonymous_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|1/18|c.57A>G|p.Gly19Gly|370/2852|57/2106|19/701||,G|splice_region_variant&non_coding_exon_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|2/20|n.57A>G||||||,G|splice_region_variant&synonymous_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|1/15|c.57A>G|p.Gly19Gly|168/1470|57/1359|19/452||,G|splice_region_variant&non_coding_exon_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|1/17|n.57A>G||||||,G|splice_region_variant&synonymous_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|1/17|c.57A>G|p.Gly19Gly|150/1678|57/1482|19/493||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|4/18|c.57A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|9/18|c.57A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|6/18|c.57A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|2/18|c.57A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|8/18|c.57A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|1/18|c.57A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|7/18|c.57A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|10/18|c.57A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|3/18|c.57A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|5/18|c.57A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|4/15|c.57A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|9/15|c.57A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|1/15|c.57A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|6/15|c.57A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|2/15|c.57A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|8/15|c.57A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|7/15|c.57A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|10/15|c.57A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|3/15|c.57A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|5/15|c.57A>G||||||,G|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron||n.-1A>G|||||542|,G|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript||n.-1A>G|||||1538|,G|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding||c.-1A>G|||||1620|,G|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron||n.-1A>G|||||3611|,G|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron||n.-1A>G|||||3870|,G|downstream_gene_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense||n.*1945T>C|||||1988| 22 38037109 . C A . . ANN=A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|4/18|c.60-24C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|9/18|c.60-24C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|6/18|c.60-24C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|2/18|c.60-24C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|8/18|c.60-24C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|1/18|c.60-24C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|7/18|c.60-24C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|10/18|c.60-24C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|3/18|c.60-24C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|5/18|c.60-24C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|4/15|c.60-24C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|9/15|c.60-24C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|1/15|c.60-24C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|6/15|c.60-24C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|2/15|c.60-24C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|8/15|c.60-24C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|7/15|c.60-24C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|10/15|c.60-24C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|3/15|c.60-24C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|5/15|c.60-24C>A||||||,A|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript||n.-1C>A|||||280|,A|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding||c.-1C>A|||||362|,A|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron||n.-1C>A|||||2353|,A|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron||n.-1C>A|||||2612|,A|downstream_gene_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense||n.*1945G>T|||||730|,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|1/17|c.60-24C>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|2/19|n.60-24C>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|1/14|c.60-24C>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|1/16|n.60-272C>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|1/16|c.60-24C>A||||||,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|1/17|n.717C>A|||||| 22 38037113 . C G . . ANN=G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|4/18|c.60-20C>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|9/18|c.60-20C>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|6/18|c.60-20C>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|2/18|c.60-20C>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|8/18|c.60-20C>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|1/18|c.60-20C>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|7/18|c.60-20C>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|10/18|c.60-20C>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|3/18|c.60-20C>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|5/18|c.60-20C>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|4/15|c.60-20C>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|9/15|c.60-20C>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|1/15|c.60-20C>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|6/15|c.60-20C>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|2/15|c.60-20C>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|8/15|c.60-20C>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|7/15|c.60-20C>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|10/15|c.60-20C>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|3/15|c.60-20C>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|5/15|c.60-20C>G||||||,G|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript||n.-1C>G|||||276|,G|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding||c.-1C>G|||||358|,G|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron||n.-1C>G|||||2349|,G|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron||n.-1C>G|||||2608|,G|downstream_gene_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense||n.*1945G>C|||||726|,G|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|1/17|c.60-20C>G||||||,G|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|2/19|n.60-20C>G||||||,G|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|1/14|c.60-20C>G||||||,G|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|1/16|n.60-268C>G||||||,G|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|1/16|c.60-20C>G||||||,G|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|1/17|n.721C>G|||||| 22 38037117 . CCA C . . ANN=|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|4/18|c.60-15_60-14delCA||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|9/18|c.60-15_60-14delCA||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|6/18|c.60-15_60-14delCA||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|2/18|c.60-15_60-14delCA||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|8/18|c.60-15_60-14delCA||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|1/18|c.60-15_60-14delCA||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|7/18|c.60-15_60-14delCA||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|10/18|c.60-15_60-14delCA||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|3/18|c.60-15_60-14delCA||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|5/18|c.60-15_60-14delCA||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|4/15|c.60-15_60-14delCA||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|9/15|c.60-15_60-14delCA||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|1/15|c.60-15_60-14delCA||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|6/15|c.60-15_60-14delCA||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|2/15|c.60-15_60-14delCA||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|8/15|c.60-15_60-14delCA||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|7/15|c.60-15_60-14delCA||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|10/15|c.60-15_60-14delCA||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|3/15|c.60-15_60-14delCA||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|5/15|c.60-15_60-14delCA||||||,|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript||n.-1_-1delCA|||||271|,|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding||c.-1_-1delCA|||||353|,|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron||n.-1_-1delCA|||||2344|,|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron||n.-1_-1delCA|||||2603|,|downstream_gene_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense||n.*1945_*1945delTG|||||721|,|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|1/17|c.60-14_60-13delAC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|2/19|n.60-14_60-13delAC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|1/14|c.60-14_60-13delAC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|1/16|n.60-262_60-261delAC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|1/16|c.60-14_60-13delAC||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|1/17|n.727_728delAC||||||INFO_REALIGN_3_PRIME 22 38037118 . CA C . . ANN=|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|4/18|c.60-14delA||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|9/18|c.60-14delA||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|6/18|c.60-14delA||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|2/18|c.60-14delA||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|8/18|c.60-14delA||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|1/18|c.60-14delA||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|7/18|c.60-14delA||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|10/18|c.60-14delA||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|3/18|c.60-14delA||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|5/18|c.60-14delA||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|4/15|c.60-14delA||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|9/15|c.60-14delA||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|1/15|c.60-14delA||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|6/15|c.60-14delA||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|2/15|c.60-14delA||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|8/15|c.60-14delA||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|7/15|c.60-14delA||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|10/15|c.60-14delA||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|3/15|c.60-14delA||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|5/15|c.60-14delA||||||,|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript||n.-1delA|||||270|,|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding||c.-1delA|||||352|,|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron||n.-1delA|||||2343|,|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron||n.-1delA|||||2602|,|downstream_gene_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense||n.*1945delT|||||720|,|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|1/17|c.60-14delA||||||,|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|2/19|n.60-14delA||||||,|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|1/14|c.60-14delA||||||,|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|1/16|n.60-262delA||||||,|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|1/16|c.60-14delA||||||,|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|1/17|n.727delA|||||| 22 38037158 . G A . . ANN=A|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|2/18|c.85G>A|p.Gly29Ser|398/2852|85/2106|29/701||,A|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|2/15|c.85G>A|p.Gly29Ser|196/1470|85/1359|29/452||,A|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|2/17|c.85G>A|p.Gly29Ser|178/1678|85/1482|29/493||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|4/18|c.85G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|9/18|c.85G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|6/18|c.85G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|2/18|c.85G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|8/18|c.85G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|1/18|c.85G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|7/18|c.85G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|10/18|c.85G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|3/18|c.85G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|5/18|c.85G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|4/15|c.85G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|9/15|c.85G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|1/15|c.85G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|6/15|c.85G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|2/15|c.85G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|8/15|c.85G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|7/15|c.85G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|10/15|c.85G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|3/15|c.85G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|5/15|c.85G>A||||||,A|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript||n.-1G>A|||||231|,A|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding||c.-1G>A|||||313|,A|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron||n.-1G>A|||||2304|,A|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron||n.-1G>A|||||2563|,A|downstream_gene_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense||n.*1945C>T|||||681|,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|1/16|n.60-223G>A||||||,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|3/20|n.85G>A||||||,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|1/17|n.766G>A|||||| 22 38037361 . C T . . ANN=T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|4/18|c.103-20C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|9/18|c.103-20C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|6/18|c.103-20C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|2/18|c.103-20C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|8/18|c.103-20C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|1/18|c.103-20C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|7/18|c.103-20C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|10/18|c.103-20C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|3/18|c.103-20C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|5/18|c.103-20C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|4/15|c.103-20C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|9/15|c.103-20C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|1/15|c.103-20C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|6/15|c.103-20C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|2/15|c.103-20C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|8/15|c.103-20C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|7/15|c.103-20C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|10/15|c.103-20C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|3/15|c.103-20C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|5/15|c.103-20C>T||||||,T|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript||n.-1C>T|||||28|,T|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding||c.-1C>T|||||110|,T|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron||n.-1C>T|||||2101|,T|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron||n.-1C>T|||||2360|,T|downstream_gene_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense||n.*1945G>A|||||478|,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|2/17|c.103-20C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|3/19|n.103-20C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|2/14|c.103-20C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|1/16|n.60-20C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|2/16|c.103-20C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|1/16|n.784-20C>T|||||| 22 38037374 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|2/17|c.103-7T>C||||||,C|splice_region_variant&intron_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|3/19|n.103-7T>C||||||,C|splice_region_variant&intron_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|2/14|c.103-7T>C||||||,C|splice_region_variant&intron_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|1/16|n.60-7T>C||||||,C|splice_region_variant&intron_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|2/16|c.103-7T>C||||||,C|splice_region_variant&intron_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|1/16|n.784-7T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|4/18|c.103-7T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|9/18|c.103-7T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|6/18|c.103-7T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|2/18|c.103-7T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|8/18|c.103-7T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|1/18|c.103-7T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|7/18|c.103-7T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|10/18|c.103-7T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|3/18|c.103-7T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|5/18|c.103-7T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|4/15|c.103-7T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|9/15|c.103-7T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|1/15|c.103-7T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|6/15|c.103-7T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|2/15|c.103-7T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|8/15|c.103-7T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|7/15|c.103-7T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|10/15|c.103-7T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|3/15|c.103-7T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|5/15|c.103-7T>C||||||,C|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript||n.-1T>C|||||15|,C|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding||c.-1T>C|||||97|,C|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron||n.-1T>C|||||2088|,C|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron||n.-1T>C|||||2347|,C|downstream_gene_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense||n.*1945A>G|||||465| 22 38037401 . G A . . ANN=A|synonymous_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|3/18|c.123G>A|p.Pro41Pro|436/2852|123/2106|41/701||,A|synonymous_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|3/15|c.123G>A|p.Pro41Pro|234/1470|123/1359|41/452||,A|synonymous_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|3/17|c.123G>A|p.Pro41Pro|216/1678|123/1482|41/493||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|4/18|c.123G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|9/18|c.123G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|6/18|c.123G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|2/18|c.123G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|8/18|c.123G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|1/18|c.123G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|7/18|c.123G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|10/18|c.123G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|3/18|c.123G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|5/18|c.123G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|4/15|c.123G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|9/15|c.123G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|1/15|c.123G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|6/15|c.123G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|2/15|c.123G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|8/15|c.123G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|7/15|c.123G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|10/15|c.123G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|3/15|c.123G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|5/15|c.123G>A||||||,A|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|2/17|n.*17G>A|||||17|,A|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding||c.-1G>A|||||70|,A|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron||n.-1G>A|||||2061|,A|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron||n.-1G>A|||||2320|,A|downstream_gene_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense||n.*1945C>T|||||438|,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|4/20|n.123G>A||||||,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|2/17|n.*17G>A||||||,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|2/17|n.804G>A||||||,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript|1/10|n.13G>A|||||| 22 38038513 . G A . . ANN=A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|4/18|c.208-33G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|9/18|c.208-33G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|6/18|c.208-33G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|2/18|c.208-33G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|8/18|c.208-33G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|1/18|c.208-33G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|7/18|c.208-33G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|10/18|c.208-33G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|3/18|c.208-33G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|5/18|c.208-33G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|4/15|c.208-33G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|9/15|c.208-33G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|1/15|c.208-33G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|6/15|c.208-33G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|2/15|c.208-33G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|8/15|c.208-33G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|7/15|c.208-33G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|10/15|c.208-33G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|3/15|c.208-33G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|5/15|c.208-33G>A||||||,A|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron||n.-1G>A|||||949|,A|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron||n.-1G>A|||||1208|,A|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron||n.-1G>A|||||4262|,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|3/17|c.208-33G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|4/19|n.208-33G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|3/14|c.208-33G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|2/16|n.*102-33G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|3/16|c.208-33G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|2/16|n.889-33G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript|1/9|n.98-33G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|1/15|c.16-33G>A||||||,A|non_coding_exon_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|6/6|n.1271C>T|||||| 22 38038605 . C T . . ANN=T|synonymous_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|4/18|c.267C>T|p.Asp89Asp|580/2852|267/2106|89/701||,T|synonymous_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|4/15|c.267C>T|p.Asp89Asp|378/1470|267/1359|89/452||,T|synonymous_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|4/17|c.267C>T|p.Asp89Asp|360/1678|267/1482|89/493||,T|synonymous_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|2/16|c.75C>T|p.Asp25Asp|75/2879|75/1818|25/605||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|4/18|c.267C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|9/18|c.267C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|6/18|c.267C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|2/18|c.267C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|8/18|c.267C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|1/18|c.267C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|7/18|c.267C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|10/18|c.267C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|3/18|c.267C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|5/18|c.267C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|4/15|c.267C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|9/15|c.267C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|1/15|c.267C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|6/15|c.267C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|2/15|c.267C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|8/15|c.267C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|7/15|c.267C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|10/15|c.267C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|3/15|c.267C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|5/15|c.267C>T||||||,T|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|3/17|n.*161C>T|||||1221|,T|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron||n.-1C>T|||||857|,T|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron||n.-1C>T|||||1116|,T|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron||n.-1C>T|||||4170|,T|non_coding_exon_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|6/6|n.1179G>A||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|5/20|n.267C>T||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|3/17|n.*161C>T||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|3/17|n.948C>T||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript|2/10|n.157C>T|||||| 22 38038644 . C T . . ANN=T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|4/18|c.284+22C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|9/18|c.284+22C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|6/18|c.284+22C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|2/18|c.284+22C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|8/18|c.284+22C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|1/18|c.284+22C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|7/18|c.284+22C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|10/18|c.284+22C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|3/18|c.284+22C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|5/18|c.284+22C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|4/15|c.284+22C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|9/15|c.284+22C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|1/15|c.284+22C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|6/15|c.284+22C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|2/15|c.284+22C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|8/15|c.284+22C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|7/15|c.284+22C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|10/15|c.284+22C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|3/15|c.284+22C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|5/15|c.284+22C>T||||||,T|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron||n.-1C>T|||||818|,T|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron||n.-1C>T|||||1077|,T|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron||n.-1C>T|||||4131|,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|4/17|c.284+22C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|5/19|n.284+22C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|4/14|c.284+22C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|3/16|n.*178+22C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|4/16|c.284+22C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript|2/9|n.174+22C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|2/15|c.92+22C>T||||||,T|non_coding_exon_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|6/6|n.1140G>A||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|3/17|n.987C>T|||||| 22 38038871 . C T . . ANN=T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|4/18|c.285-31C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|9/18|c.285-31C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|6/18|c.285-31C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|2/18|c.285-31C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|8/18|c.285-31C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|1/18|c.285-31C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|7/18|c.285-31C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|10/18|c.285-31C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|3/18|c.285-31C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|5/18|c.285-31C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|4/15|c.285-31C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|9/15|c.285-31C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|1/15|c.285-31C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|6/15|c.285-31C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|2/15|c.285-31C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|8/15|c.285-31C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|7/15|c.285-31C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|10/15|c.285-31C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|3/15|c.285-31C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|5/15|c.285-31C>T||||||,T|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron||n.-1C>T|||||591|,T|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron||n.-1C>T|||||850|,T|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron||n.-1C>T|||||3904|,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|4/17|c.285-31C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|5/19|n.285-31C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|4/14|c.285-31C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|3/16|n.*179-31C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|4/16|c.285-31C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|3/16|n.1088-31C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript|2/9|n.175-35C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|2/15|c.93-31C>T||||||,T|non_coding_exon_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|6/6|n.913G>A|||||| 22 38039089 . C A . . ANN=A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|4/18|c.397-16C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|9/18|c.397-16C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|6/18|c.397-16C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|2/18|c.397-16C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|8/18|c.397-16C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|1/18|c.397-16C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|7/18|c.397-16C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|10/18|c.397-16C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|3/18|c.397-16C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|5/18|c.397-16C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|4/15|c.397-16C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|9/15|c.397-16C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|1/15|c.397-16C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|6/15|c.397-16C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|2/15|c.397-16C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|8/15|c.397-16C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|7/15|c.397-16C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|10/15|c.397-16C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|3/15|c.397-16C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|5/15|c.397-16C>A||||||,A|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron||n.-1C>A|||||373|,A|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron||n.-1C>A|||||632|,A|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron||n.-1C>A|||||3686|,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|5/17|c.397-16C>A||||||,A|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|5/5|n.813-118G>T||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|6/19|n.397-16C>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|5/14|c.397-16C>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|4/16|n.*291-16C>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|5/16|c.397-16C>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|4/16|n.1200-16C>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript|3/9|n.283-16C>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|3/15|c.205-16C>A|||||| 22 38039128 . A G . . ANN=G|synonymous_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|6/18|c.420A>G|p.Lys140Lys|733/2852|420/2106|140/701||,G|synonymous_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|6/15|c.420A>G|p.Lys140Lys|531/1470|420/1359|140/452||,G|synonymous_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|6/17|c.420A>G|p.Lys140Lys|513/1678|420/1482|140/493||,G|synonymous_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|4/16|c.228A>G|p.Lys76Lys|228/2879|228/1818|76/605||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|4/18|c.420A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|9/18|c.420A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|6/18|c.420A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|2/18|c.420A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|8/18|c.420A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|1/18|c.420A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|7/18|c.420A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|10/18|c.420A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|3/18|c.420A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|5/18|c.420A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|4/15|c.420A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|9/15|c.420A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|1/15|c.420A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|6/15|c.420A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|2/15|c.420A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|8/15|c.420A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|7/15|c.420A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|10/15|c.420A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|3/15|c.420A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|5/15|c.420A>G||||||,G|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|5/17|n.*314A>G|||||1744|,G|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron||n.-1A>G|||||334|,G|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron||n.-1A>G|||||593|,G|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron||n.-1A>G|||||3647|,G|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|5/5|n.813-157T>C||||||,G|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|7/20|n.420A>G||||||,G|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|5/17|n.*314A>G||||||,G|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|5/17|n.1223A>G||||||,G|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript|4/10|n.306A>G|||||| 22 38039197 . G A . . ANN=A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|4/18|c.473+16G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|9/18|c.473+16G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|6/18|c.473+16G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|2/18|c.473+16G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|8/18|c.473+16G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|1/18|c.473+16G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|7/18|c.473+16G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|10/18|c.473+16G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|3/18|c.473+16G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|5/18|c.473+16G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|4/15|c.473+16G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|9/15|c.473+16G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|1/15|c.473+16G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|6/15|c.473+16G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|2/15|c.473+16G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|8/15|c.473+16G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|7/15|c.473+16G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|10/15|c.473+16G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|3/15|c.473+16G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|5/15|c.473+16G>A||||||,A|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron||n.-1G>A|||||265|,A|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron||n.-1G>A|||||524|,A|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron||n.-1G>A|||||3578|,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|6/17|c.473+16G>A||||||,A|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|5/5|n.813-226C>T||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|7/19|n.473+16G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|6/14|c.473+16G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|5/16|n.*367+16G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|6/16|c.473+16G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|5/16|n.1276+16G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript|4/9|n.359+16G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|4/15|c.281+16G>A|||||| 22 38039198 . C T . . ANN=T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|4/18|c.473+17C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|9/18|c.473+17C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|6/18|c.473+17C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|2/18|c.473+17C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|8/18|c.473+17C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|1/18|c.473+17C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|7/18|c.473+17C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|10/18|c.473+17C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|3/18|c.473+17C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|5/18|c.473+17C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|4/15|c.473+17C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|9/15|c.473+17C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|1/15|c.473+17C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|6/15|c.473+17C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|2/15|c.473+17C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|8/15|c.473+17C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|7/15|c.473+17C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|10/15|c.473+17C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|3/15|c.473+17C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|5/15|c.473+17C>T||||||,T|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron||n.-1C>T|||||264|,T|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron||n.-1C>T|||||523|,T|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron||n.-1C>T|||||3577|,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|6/17|c.473+17C>T||||||,T|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|5/5|n.813-227G>A||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|7/19|n.473+17C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|6/14|c.473+17C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|5/16|n.*367+17C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|6/16|c.473+17C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|5/16|n.1276+17C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript|4/9|n.359+17C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|4/15|c.281+17C>T|||||| 22 38039211 . T C . . ANN=C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|4/18|c.473+30T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|9/18|c.473+30T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|6/18|c.473+30T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|2/18|c.473+30T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|8/18|c.473+30T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|1/18|c.473+30T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|7/18|c.473+30T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|10/18|c.473+30T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|3/18|c.473+30T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|5/18|c.473+30T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|4/15|c.473+30T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|9/15|c.473+30T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|1/15|c.473+30T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|6/15|c.473+30T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|2/15|c.473+30T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|8/15|c.473+30T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|7/15|c.473+30T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|10/15|c.473+30T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|3/15|c.473+30T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|5/15|c.473+30T>C||||||,C|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron||n.-1T>C|||||251|,C|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron||n.-1T>C|||||510|,C|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron||n.-1T>C|||||3564|,C|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|6/17|c.473+30T>C||||||,C|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|5/5|n.813-240A>G||||||,C|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|7/19|n.473+30T>C||||||,C|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|6/14|c.473+30T>C||||||,C|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|5/16|n.*367+30T>C||||||,C|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|6/16|c.473+30T>C||||||,C|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|5/16|n.1276+30T>C||||||,C|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript|4/9|n.359+30T>C||||||,C|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|4/15|c.281+30T>C|||||| 22 38039618 . C T . . ANN=T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|4/18|c.474-33C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|9/18|c.474-33C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|6/18|c.474-33C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|2/18|c.474-33C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|8/18|c.474-33C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|1/18|c.474-33C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|7/18|c.474-33C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|10/18|c.474-33C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|3/18|c.474-33C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|5/18|c.474-33C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|4/15|c.474-33C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|9/15|c.474-33C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|1/15|c.474-33C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|6/15|c.474-33C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|2/15|c.474-33C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|8/15|c.474-33C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|7/15|c.474-33C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|10/15|c.474-33C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|3/15|c.474-33C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|5/15|c.474-33C>T||||||,T|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron||n.-1C>T|||||103|,T|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron||n.-1C>T|||||3157|,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|6/17|c.474-33C>T||||||,T|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|5/5|n.812+16G>A||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|7/19|n.474-33C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|6/14|c.474-33C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|5/16|n.*368-33C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|6/16|c.474-33C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|5/16|n.1277-33C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript|4/9|n.360-33C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|4/15|c.282-33C>T||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron|1/7|n.157C>T|||||| 22 38039625 . C T . . ANN=T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|4/18|c.474-26C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|9/18|c.474-26C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|6/18|c.474-26C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|2/18|c.474-26C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|8/18|c.474-26C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|1/18|c.474-26C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|7/18|c.474-26C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|10/18|c.474-26C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|3/18|c.474-26C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|5/18|c.474-26C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|4/15|c.474-26C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|9/15|c.474-26C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|1/15|c.474-26C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|6/15|c.474-26C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|2/15|c.474-26C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|8/15|c.474-26C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|7/15|c.474-26C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|10/15|c.474-26C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|3/15|c.474-26C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|5/15|c.474-26C>T||||||,T|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron||n.-1C>T|||||96|,T|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron||n.-1C>T|||||3150|,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|6/17|c.474-26C>T||||||,T|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|5/5|n.812+9G>A||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|7/19|n.474-26C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|6/14|c.474-26C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|5/16|n.*368-26C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|6/16|c.474-26C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|5/16|n.1277-26C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript|4/9|n.360-26C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|4/15|c.282-26C>T||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron|1/7|n.164C>T|||||| 22 38039634 . C G . . ANN=G|splice_region_variant&non_coding_exon_variant|LOW|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|5/6|n.812G>C||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|4/18|c.474-17C>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|9/18|c.474-17C>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|6/18|c.474-17C>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|2/18|c.474-17C>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|8/18|c.474-17C>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|1/18|c.474-17C>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|7/18|c.474-17C>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|10/18|c.474-17C>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|3/18|c.474-17C>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|5/18|c.474-17C>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|4/15|c.474-17C>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|9/15|c.474-17C>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|1/15|c.474-17C>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|6/15|c.474-17C>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|2/15|c.474-17C>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|8/15|c.474-17C>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|7/15|c.474-17C>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|10/15|c.474-17C>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|3/15|c.474-17C>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|5/15|c.474-17C>G||||||,G|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron||n.-1C>G|||||87|,G|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron||n.-1C>G|||||3141|,G|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|6/17|c.474-17C>G||||||,G|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|7/19|n.474-17C>G||||||,G|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|6/14|c.474-17C>G||||||,G|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|5/16|n.*368-17C>G||||||,G|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|6/16|c.474-17C>G||||||,G|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|5/16|n.1277-17C>G||||||,G|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript|4/9|n.360-17C>G||||||,G|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|4/15|c.282-17C>G||||||,G|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron|1/7|n.173C>G|||||| 22 38039708 . T C . . ANN=C|synonymous_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|7/18|c.531T>C|p.Gly177Gly|844/2852|531/2106|177/701||,C|synonymous_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|7/15|c.531T>C|p.Gly177Gly|642/1470|531/1359|177/452||,C|synonymous_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|7/17|c.531T>C|p.Gly177Gly|624/1678|531/1482|177/493||,C|synonymous_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|5/16|c.339T>C|p.Gly113Gly|339/2879|339/1818|113/605||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|4/18|c.531T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|9/18|c.531T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|6/18|c.531T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|2/18|c.531T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|8/18|c.531T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|1/18|c.531T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|7/18|c.531T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|10/18|c.531T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|3/18|c.531T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|5/18|c.531T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|4/15|c.531T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|9/15|c.531T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|1/15|c.531T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|6/15|c.531T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|2/15|c.531T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|8/15|c.531T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|7/15|c.531T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|10/15|c.531T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|3/15|c.531T>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|5/15|c.531T>C||||||,C|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|6/17|n.*425T>C|||||2324|,C|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron||n.-1T>C|||||13|,C|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron||n.-1T>C|||||3067|,C|non_coding_exon_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|5/6|n.738A>G||||||,C|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|8/20|n.531T>C||||||,C|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|6/17|n.*425T>C||||||,C|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|6/17|n.1334T>C||||||,C|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript|5/10|n.417T>C||||||,C|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron|1/7|n.247T>C|||||| 22 38039746 . C T . . ANN=T|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|7/18|c.569C>T|p.Thr190Met|882/2852|569/2106|190/701||,T|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|7/15|c.569C>T|p.Thr190Met|680/1470|569/1359|190/452||,T|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|7/17|c.569C>T|p.Thr190Met|662/1678|569/1482|190/493||,T|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|5/16|c.377C>T|p.Thr126Met|377/2879|377/1818|126/605||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|4/18|c.569C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|9/18|c.569C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|6/18|c.569C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|2/18|c.569C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|8/18|c.569C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|1/18|c.569C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|7/18|c.569C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|10/18|c.569C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|3/18|c.569C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|5/18|c.569C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|4/15|c.569C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|9/15|c.569C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|1/15|c.569C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|6/15|c.569C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|2/15|c.569C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|8/15|c.569C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|7/15|c.569C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|10/15|c.569C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|3/15|c.569C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|5/15|c.569C>T||||||,T|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|6/17|n.*463C>T|||||2362|,T|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron||n.-1C>T|||||3029|,T|non_coding_exon_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|5/6|n.700G>A||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|8/20|n.569C>T||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|6/17|n.*463C>T||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|6/17|n.1372C>T||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript|5/10|n.455C>T||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron|1/7|n.285C>T||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron|1/3|n.26C>T|||||| 22 38039747 . G T . . ANN=T|synonymous_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|7/18|c.570G>T|p.Thr190Thr|883/2852|570/2106|190/701||,T|synonymous_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|7/15|c.570G>T|p.Thr190Thr|681/1470|570/1359|190/452||,T|synonymous_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|7/17|c.570G>T|p.Thr190Thr|663/1678|570/1482|190/493||,T|synonymous_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|5/16|c.378G>T|p.Thr126Thr|378/2879|378/1818|126/605||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|4/18|c.570G>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|9/18|c.570G>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|6/18|c.570G>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|2/18|c.570G>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|8/18|c.570G>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|1/18|c.570G>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|7/18|c.570G>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|10/18|c.570G>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|3/18|c.570G>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|5/18|c.570G>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|4/15|c.570G>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|9/15|c.570G>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|1/15|c.570G>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|6/15|c.570G>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|2/15|c.570G>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|8/15|c.570G>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|7/15|c.570G>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|10/15|c.570G>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|3/15|c.570G>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|5/15|c.570G>T||||||,T|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|6/17|n.*464G>T|||||2363|,T|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron||n.-1G>T|||||3028|,T|non_coding_exon_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|5/6|n.699C>A||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|8/20|n.570G>T||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|6/17|n.*464G>T||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|6/17|n.1373G>T||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript|5/10|n.456G>T||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron|1/7|n.286G>T||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron|1/3|n.27G>T|||||| 22 38040711 . G A . . ANN=A|missense_variant&splice_region_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|8/18|c.686G>A|p.Arg229His|999/2852|686/2106|229/701||,A|missense_variant&splice_region_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|8/15|c.686G>A|p.Arg229His|797/1470|686/1359|229/452||,A|missense_variant&splice_region_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|8/17|c.686G>A|p.Arg229His|779/1678|686/1482|229/493||,A|missense_variant&splice_region_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|6/16|c.494G>A|p.Arg165His|494/2879|494/1818|165/605||,A|splice_region_variant&non_coding_exon_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|9/20|n.686G>A||||||,A|splice_region_variant&non_coding_exon_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|7/17|n.*580G>A||||||,A|splice_region_variant&non_coding_exon_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|7/17|n.1489G>A||||||,A|splice_region_variant&non_coding_exon_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript|6/10|n.572G>A||||||,A|splice_region_variant&non_coding_exon_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron|2/7|n.402G>A||||||,A|splice_region_variant&non_coding_exon_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron|2/3|n.143G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|4/18|c.686G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|9/18|c.686G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|6/18|c.686G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|2/18|c.686G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|8/18|c.686G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|1/18|c.686G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|7/18|c.686G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|10/18|c.686G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|3/18|c.686G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|5/18|c.686G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|4/15|c.686G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|9/15|c.686G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|1/15|c.686G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|6/15|c.686G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|2/15|c.686G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|8/15|c.686G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|7/15|c.686G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|10/15|c.686G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|3/15|c.686G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|5/15|c.686G>A||||||,A|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|7/17|n.*580G>A|||||3327|,A|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron||n.-1G>A|||||2064|,A|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|4/5|n.678-943C>T|||||| 22 38040842 . C T . . ANN=T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|4/18|c.688-35C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|9/18|c.688-35C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|6/18|c.688-35C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|2/18|c.688-35C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|8/18|c.688-35C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|1/18|c.688-35C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|7/18|c.688-35C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|10/18|c.688-35C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|3/18|c.688-35C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|5/18|c.688-35C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|4/15|c.688-35C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|9/15|c.688-35C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|1/15|c.688-35C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|6/15|c.688-35C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|2/15|c.688-35C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|8/15|c.688-35C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|7/15|c.688-35C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|10/15|c.688-35C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|3/15|c.688-35C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|5/15|c.688-35C>T||||||,T|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron||n.-1C>T|||||1933|,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|8/17|c.688-35C>T||||||,T|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|4/5|n.678-1074G>A||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|9/19|n.688-35C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|8/14|c.688-35C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|7/16|n.*582-35C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|8/16|c.688-35C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|7/16|n.1491-35C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript|6/9|n.574-35C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|6/15|c.496-35C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron|2/6|n.404-35C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron|2/2|n.145-35C>T|||||| 22 38040850 . G A . . ANN=A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|4/18|c.688-27G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|9/18|c.688-27G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|6/18|c.688-27G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|2/18|c.688-27G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|8/18|c.688-27G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|1/18|c.688-27G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|7/18|c.688-27G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|10/18|c.688-27G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|3/18|c.688-27G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|5/18|c.688-27G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|4/15|c.688-27G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|9/15|c.688-27G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|1/15|c.688-27G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|6/15|c.688-27G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|2/15|c.688-27G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|8/15|c.688-27G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|7/15|c.688-27G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|10/15|c.688-27G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|3/15|c.688-27G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|5/15|c.688-27G>A||||||,A|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron||n.-1G>A|||||1925|,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|8/17|c.688-27G>A||||||,A|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|4/5|n.678-1082C>T||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|9/19|n.688-27G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|8/14|c.688-27G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|7/16|n.*582-27G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|8/16|c.688-27G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|7/16|n.1491-27G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript|6/9|n.574-27G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|6/15|c.496-27G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron|2/6|n.404-27G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron|2/2|n.145-27G>A|||||| 22 38040911 . CA C . . ANN=|frameshift_variant|HIGH|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|9/18|c.723delA|p.Ser241fs|1036/2852|723/2106|241/701||,|frameshift_variant|HIGH|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|9/15|c.723delA|p.Ser241fs|834/1470|723/1359|241/452||,|frameshift_variant|HIGH|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|9/17|c.723delA|p.Ser241fs|816/1678|723/1482|241/493||,|frameshift_variant|HIGH|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|7/16|c.531delA|p.Ser177fs|531/2879|531/1818|177/605||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|4/18|c.723delA||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|9/18|c.723delA||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|6/18|c.723delA||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|2/18|c.723delA||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|8/18|c.723delA||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|1/18|c.723delA||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|7/18|c.723delA||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|10/18|c.723delA||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|3/18|c.723delA||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|5/18|c.723delA||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|4/15|c.723delA||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|9/15|c.723delA||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|1/15|c.723delA||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|6/15|c.723delA||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|2/15|c.723delA||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|8/15|c.723delA||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|7/15|c.723delA||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|10/15|c.723delA||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|3/15|c.723delA||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|5/15|c.723delA||||||,|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|8/17|n.*617delA|||||3528|,|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron||n.-1delA|||||1863|,|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|4/5|n.678-1144delT||||||,|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|10/20|n.723delA||||||,|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|8/17|n.*617delA||||||,|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|8/17|n.1526delA||||||,|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript|7/10|n.609delA||||||,|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron|3/7|n.439delA||||||,|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron|3/3|n.180delA||||||;LOF=(SH3BP1|ENSG00000100092|11|0.36) 22 38040957 . C T . . ANN=T|synonymous_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|9/18|c.768C>T|p.His256His|1081/2852|768/2106|256/701||,T|synonymous_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|9/15|c.768C>T|p.His256His|879/1470|768/1359|256/452||,T|synonymous_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|9/17|c.768C>T|p.His256His|861/1678|768/1482|256/493||,T|synonymous_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|7/16|c.576C>T|p.His192His|576/2879|576/1818|192/605||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|4/18|c.768C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|9/18|c.768C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|6/18|c.768C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|2/18|c.768C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|8/18|c.768C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|1/18|c.768C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|7/18|c.768C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|10/18|c.768C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|3/18|c.768C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|5/18|c.768C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|4/15|c.768C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|9/15|c.768C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|1/15|c.768C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|6/15|c.768C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|2/15|c.768C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|8/15|c.768C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|7/15|c.768C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|10/15|c.768C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|3/15|c.768C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|5/15|c.768C>T||||||,T|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|8/17|n.*662C>T|||||3573|,T|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron||n.-1C>T|||||1818|,T|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|4/5|n.678-1189G>A||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|10/20|n.768C>T||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|8/17|n.*662C>T||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|8/17|n.1571C>T||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript|7/10|n.654C>T||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron|3/7|n.484C>T||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron|3/3|n.225C>T|||||| 22 38040958 . G A . . ANN=A|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|9/18|c.769G>A|p.Gly257Ser|1082/2852|769/2106|257/701||,A|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|9/15|c.769G>A|p.Gly257Ser|880/1470|769/1359|257/452||,A|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|9/17|c.769G>A|p.Gly257Ser|862/1678|769/1482|257/493||,A|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|7/16|c.577G>A|p.Gly193Ser|577/2879|577/1818|193/605||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|4/18|c.769G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|9/18|c.769G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|6/18|c.769G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|2/18|c.769G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|8/18|c.769G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|1/18|c.769G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|7/18|c.769G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|10/18|c.769G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|3/18|c.769G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|5/18|c.769G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|4/15|c.769G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|9/15|c.769G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|1/15|c.769G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|6/15|c.769G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|2/15|c.769G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|8/15|c.769G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|7/15|c.769G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|10/15|c.769G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|3/15|c.769G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|5/15|c.769G>A||||||,A|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|8/17|n.*663G>A|||||3574|,A|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron||n.-1G>A|||||1817|,A|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|4/5|n.678-1190C>T||||||,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|10/20|n.769G>A||||||,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|8/17|n.*663G>A||||||,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|8/17|n.1572G>A||||||,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript|7/10|n.655G>A||||||,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron|3/7|n.485G>A||||||,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron|3/3|n.226G>A|||||| 22 38040997 . C T . . ANN=T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|4/18|c.778+30C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|9/18|c.778+30C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|6/18|c.778+30C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|2/18|c.778+30C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|8/18|c.778+30C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|1/18|c.778+30C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|7/18|c.778+30C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|10/18|c.778+30C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|3/18|c.778+30C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|5/18|c.778+30C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|4/15|c.778+30C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|9/15|c.778+30C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|1/15|c.778+30C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|6/15|c.778+30C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|2/15|c.778+30C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|8/15|c.778+30C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|7/15|c.778+30C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|10/15|c.778+30C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|3/15|c.778+30C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|5/15|c.778+30C>T||||||,T|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron||n.-1C>T|||||1778|,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|9/17|c.778+30C>T||||||,T|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|4/5|n.678-1229G>A||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|10/19|n.778+30C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|9/14|c.778+30C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|8/16|n.*672+30C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|9/16|c.778+30C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|8/16|n.1581+30C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript|7/9|n.664+30C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|7/15|c.586+30C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron|3/6|n.494+30C>T||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron|3/3|n.265C>T|||||| 22 38041015 . C T . . ANN=T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|4/18|c.778+48C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|9/18|c.778+48C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|6/18|c.778+48C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|2/18|c.778+48C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|8/18|c.778+48C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|1/18|c.778+48C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|7/18|c.778+48C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|10/18|c.778+48C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|3/18|c.778+48C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|5/18|c.778+48C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|4/15|c.778+48C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|9/15|c.778+48C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|1/15|c.778+48C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|6/15|c.778+48C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|2/15|c.778+48C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|8/15|c.778+48C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|7/15|c.778+48C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|10/15|c.778+48C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|3/15|c.778+48C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|5/15|c.778+48C>T||||||,T|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron||n.-1C>T|||||1760|,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|9/17|c.778+48C>T||||||,T|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|4/5|n.678-1247G>A||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|10/19|n.778+48C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|9/14|c.778+48C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|8/16|n.*672+48C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|9/16|c.778+48C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|8/16|n.1581+48C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript|7/9|n.664+48C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|7/15|c.586+48C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron|3/6|n.494+48C>T||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron|3/3|n.283C>T|||||| 22 38041328 . G A . . ANN=A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|4/18|c.779-44G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|9/18|c.779-44G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|6/18|c.779-44G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|2/18|c.779-44G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|8/18|c.779-44G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|1/18|c.779-44G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|7/18|c.779-44G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|10/18|c.779-44G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|3/18|c.779-44G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|5/18|c.779-44G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|4/15|c.779-44G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|9/15|c.779-44G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|1/15|c.779-44G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|6/15|c.779-44G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|2/15|c.779-44G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|8/15|c.779-44G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|7/15|c.779-44G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|10/15|c.779-44G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|3/15|c.779-44G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|5/15|c.779-44G>A||||||,A|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron||n.-1G>A|||||1447|,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron||n.*330G>A|||||266|,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|9/17|c.779-44G>A||||||,A|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|4/5|n.678-1560C>T||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|10/19|n.779-44G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|9/14|c.779-44G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|8/16|n.*673-44G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|9/16|c.779-44G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|8/16|n.1582-44G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript|7/9|n.665-44G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|7/15|c.587-44G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron|3/6|n.495-44G>A|||||| 22 38041375 . A G . . ANN=G|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|10/18|c.782A>G|p.His261Arg|1095/2852|782/2106|261/701||,G|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|10/15|c.782A>G|p.His261Arg|893/1470|782/1359|261/452||,G|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|10/17|c.782A>G|p.His261Arg|875/1678|782/1482|261/493||,G|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|8/16|c.590A>G|p.His197Arg|590/2879|590/1818|197/605||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|4/18|c.782A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|9/18|c.782A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|6/18|c.782A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|2/18|c.782A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|8/18|c.782A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|1/18|c.782A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|7/18|c.782A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|10/18|c.782A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|3/18|c.782A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|5/18|c.782A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|4/15|c.782A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|9/15|c.782A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|1/15|c.782A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|6/15|c.782A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|2/15|c.782A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|8/15|c.782A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|7/15|c.782A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|10/15|c.782A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|3/15|c.782A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|5/15|c.782A>G||||||,G|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|9/17|n.*676A>G|||||3991|,G|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron||n.-1A>G|||||1400|,G|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron||n.*330A>G|||||313|,G|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|4/5|n.678-1607T>C||||||,G|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|11/20|n.782A>G||||||,G|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|9/17|n.*676A>G||||||,G|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|9/17|n.1585A>G||||||,G|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript|8/10|n.668A>G||||||,G|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron|4/7|n.498A>G|||||| 22 38041544 . A G . . ANN=G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|12/18|c.924+27A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|15/18|c.924+27A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|11/18|c.924+27A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|14/18|c.924+27A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|13/18|c.924+27A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|10/18|c.924+27A>G||||||,G|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron||n.-1A>G|||||1231|,G|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron||n.*330A>G|||||482|,G|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|10/17|c.924+27A>G||||||,G|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|4/5|n.678-1776T>C||||||,G|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|11/19|n.924+27A>G||||||,G|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|10/14|c.924+27A>G||||||,G|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|9/16|n.*818+27A>G||||||,G|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|10/16|c.924+27A>G||||||,G|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|9/16|n.1727+27A>G||||||,G|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript|8/9|n.810+27A>G||||||,G|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|8/15|c.732+27A>G||||||,G|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron|4/6|n.640+27A>G|||||| 22 38042828 . C A . . ANN=A|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|11/18|c.928C>A|p.Leu310Ile|1241/2852|928/2106|310/701||,A|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|11/15|c.928C>A|p.Leu310Ile|1039/1470|928/1359|310/452||,A|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|11/17|c.928C>A|p.Leu310Ile|1021/1678|928/1482|310/493||,A|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|9/16|c.736C>A|p.Leu246Ile|736/2879|736/1818|246/605||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|12/18|c.928C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|15/18|c.928C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|11/18|c.928C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|14/18|c.928C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|13/18|c.928C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|10/18|c.928C>A||||||,A|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|10/17|n.*822C>A|||||5444|,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron||n.*330C>A|||||1766|,A|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|4/5|n.677+1502G>T||||||,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|12/20|n.928C>A||||||,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|10/17|n.*822C>A||||||,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|10/17|n.1731C>A||||||,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript|9/10|n.814C>A||||||,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron|5/7|n.644C>A||||||,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron|1/6|n.54C>A|||||| 22 38042887 . G A . . ANN=A|synonymous_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|11/18|c.987G>A|p.Ser329Ser|1300/2852|987/2106|329/701||,A|synonymous_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|11/15|c.987G>A|p.Ser329Ser|1098/1470|987/1359|329/452||,A|synonymous_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|11/17|c.987G>A|p.Ser329Ser|1080/1678|987/1482|329/493||,A|synonymous_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|9/16|c.795G>A|p.Ser265Ser|795/2879|795/1818|265/605||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|12/18|c.987G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|15/18|c.987G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|11/18|c.987G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|14/18|c.987G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|13/18|c.987G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|10/18|c.987G>A||||||,A|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|10/17|n.*881G>A|||||5503|,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron||n.*330G>A|||||1825|,A|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|4/5|n.677+1443C>T||||||,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|12/20|n.987G>A||||||,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|10/17|n.*881G>A||||||,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|10/17|n.1790G>A||||||,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript|9/10|n.873G>A||||||,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron|5/7|n.703G>A||||||,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron|1/6|n.113G>A|||||| 22 38042948 . G A . . ANN=A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|12/18|c.1036+12G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|15/18|c.1036+12G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|11/18|c.1036+12G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|14/18|c.1036+12G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|13/18|c.1036+12G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|10/18|c.1036+12G>A||||||,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron||n.*330G>A|||||1886|,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|11/17|c.1036+12G>A||||||,A|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|4/5|n.677+1382C>T||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|12/19|n.1036+12G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|11/14|c.1036+12G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|10/16|n.*930+12G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|11/16|c.1036+12G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|10/16|n.1839+12G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript|9/9|n.922+12G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|9/15|c.844+12G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron|5/6|n.752+12G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron|1/5|n.162+12G>A|||||| 22 38042969 . TG T . . ANN=|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|12/18|c.1036+34delG||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|15/18|c.1036+34delG||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|11/18|c.1036+34delG||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|14/18|c.1036+34delG||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|13/18|c.1036+34delG||||||,|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|10/18|c.1036+34delG||||||,|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron||n.*330delG|||||1908|,|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|11/17|c.1036+40delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|4/5|n.677+1360delC||||||,|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|12/19|n.1036+40delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|11/14|c.1036+40delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|10/16|n.*930+40delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|11/16|c.1036+40delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|10/16|n.1839+40delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript|9/9|n.922+40delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|9/15|c.844+40delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron|5/6|n.752+40delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron|1/5|n.162+40delG||||||INFO_REALIGN_3_PRIME 22 38042971 . G C . . ANN=C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|12/18|c.1036+35G>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|15/18|c.1036+35G>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|11/18|c.1036+35G>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|14/18|c.1036+35G>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|13/18|c.1036+35G>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|10/18|c.1036+35G>C||||||,C|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron||n.*330G>C|||||1909|,C|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|11/17|c.1036+35G>C||||||,C|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|4/5|n.677+1359C>G||||||,C|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|12/19|n.1036+35G>C||||||,C|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|11/14|c.1036+35G>C||||||,C|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|10/16|n.*930+35G>C||||||,C|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|11/16|c.1036+35G>C||||||,C|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|10/16|n.1839+35G>C||||||,C|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript|9/9|n.922+35G>C||||||,C|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|9/15|c.844+35G>C||||||,C|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron|5/6|n.752+35G>C||||||,C|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron|1/5|n.162+35G>C|||||| 22 38042972 . G C . . ANN=C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|12/18|c.1036+36G>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|15/18|c.1036+36G>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|11/18|c.1036+36G>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|14/18|c.1036+36G>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|13/18|c.1036+36G>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|10/18|c.1036+36G>C||||||,C|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron||n.*330G>C|||||1910|,C|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|11/17|c.1036+36G>C||||||,C|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|4/5|n.677+1358C>G||||||,C|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|12/19|n.1036+36G>C||||||,C|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|11/14|c.1036+36G>C||||||,C|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|10/16|n.*930+36G>C||||||,C|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|11/16|c.1036+36G>C||||||,C|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|10/16|n.1839+36G>C||||||,C|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript|9/9|n.922+36G>C||||||,C|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|9/15|c.844+36G>C||||||,C|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron|5/6|n.752+36G>C||||||,C|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron|1/5|n.162+36G>C|||||| 22 38042982 . G A . . ANN=A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|12/18|c.1036+46G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|15/18|c.1036+46G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|11/18|c.1036+46G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|14/18|c.1036+46G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|13/18|c.1036+46G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|10/18|c.1036+46G>A||||||,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron||n.*330G>A|||||1920|,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|11/17|c.1036+46G>A||||||,A|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|4/5|n.677+1348C>T||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|12/19|n.1036+46G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|11/14|c.1036+46G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|10/16|n.*930+46G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|11/16|c.1036+46G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|10/16|n.1839+46G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript|9/9|n.922+46G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|9/15|c.844+46G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron|5/6|n.752+46G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron|1/5|n.162+46G>A|||||| 22 38043372 . A C . . ANN=C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|12/18|c.1118+17A>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|15/18|c.1118+17A>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|11/18|c.1118+17A>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|14/18|c.1118+17A>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|13/18|c.1118+17A>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|10/18|c.1118+17A>C||||||,C|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript||n.*947A>C|||||74|,C|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron||n.*330A>C|||||2310|,C|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|12/17|c.1118+17A>C||||||,C|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|4/5|n.677+958T>G||||||,C|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|13/19|n.1118+17A>C||||||,C|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|12/14|c.1118+17A>C||||||,C|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|11/16|n.*1012+17A>C||||||,C|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|12/16|c.1118+17A>C||||||,C|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|11/16|n.1921+17A>C||||||,C|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|10/15|c.926+17A>C||||||,C|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron|6/6|n.834+17A>C||||||,C|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron|2/5|n.244+17A>C|||||| 22 38043385 . G A . . ANN=A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|12/18|c.1118+30G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|15/18|c.1118+30G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|11/18|c.1118+30G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|14/18|c.1118+30G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|13/18|c.1118+30G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|10/18|c.1118+30G>A||||||,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript||n.*947G>A|||||87|,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron||n.*330G>A|||||2323|,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|12/17|c.1118+30G>A||||||,A|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|4/5|n.677+945C>T||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|13/19|n.1118+30G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|12/14|c.1118+30G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|11/16|n.*1012+30G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|12/16|c.1118+30G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|11/16|n.1921+30G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|10/15|c.926+30G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron|6/6|n.834+30G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron|2/5|n.244+30G>A|||||| 22 38043416 . G A . . ANN=A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|12/18|c.1119-32G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|15/18|c.1119-32G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|11/18|c.1119-32G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|14/18|c.1119-32G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|13/18|c.1119-32G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|10/18|c.1119-32G>A||||||,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript||n.*947G>A|||||118|,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron||n.*330G>A|||||2354|,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|12/17|c.1119-32G>A||||||,A|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|4/5|n.677+914C>T||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|13/19|n.1119-32G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|12/14|c.1119-32G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|11/16|n.*1013-32G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|12/16|c.1119-32G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|11/16|n.1922-32G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|10/15|c.927-32G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron|6/6|n.835-32G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron|2/5|n.245-32G>A|||||| 22 38043439 . C A . . ANN=A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|12/18|c.1119-9C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|15/18|c.1119-9C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|11/18|c.1119-9C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|14/18|c.1119-9C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|13/18|c.1119-9C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|10/18|c.1119-9C>A||||||,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript||n.*947C>A|||||141|,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron||n.*330C>A|||||2377|,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|12/17|c.1119-9C>A||||||,A|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|4/5|n.677+891G>T||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|13/19|n.1119-9C>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|12/14|c.1119-9C>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|11/16|n.*1013-9C>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|12/16|c.1119-9C>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|11/16|n.1922-9C>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|10/15|c.927-9C>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron|6/6|n.835-9C>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron|2/5|n.245-9C>A|||||| 22 38043443 . C A,G,T . . ANN=A|splice_region_variant&intron_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|12/17|c.1119-5C>A||||||,G|splice_region_variant&intron_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|12/17|c.1119-5C>G||||||,T|splice_region_variant&intron_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|12/17|c.1119-5C>T||||||,A|splice_region_variant&intron_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|13/19|n.1119-5C>A||||||,G|splice_region_variant&intron_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|13/19|n.1119-5C>G||||||,T|splice_region_variant&intron_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|13/19|n.1119-5C>T||||||,A|splice_region_variant&intron_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|12/14|c.1119-5C>A||||||,G|splice_region_variant&intron_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|12/14|c.1119-5C>G||||||,T|splice_region_variant&intron_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|12/14|c.1119-5C>T||||||,A|splice_region_variant&intron_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|11/16|n.*1013-5C>A||||||,G|splice_region_variant&intron_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|11/16|n.*1013-5C>G||||||,T|splice_region_variant&intron_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|11/16|n.*1013-5C>T||||||,A|splice_region_variant&intron_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|12/16|c.1119-5C>A||||||,G|splice_region_variant&intron_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|12/16|c.1119-5C>G||||||,T|splice_region_variant&intron_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|12/16|c.1119-5C>T||||||,A|splice_region_variant&intron_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|11/16|n.1922-5C>A||||||,G|splice_region_variant&intron_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|11/16|n.1922-5C>G||||||,T|splice_region_variant&intron_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|11/16|n.1922-5C>T||||||,A|splice_region_variant&intron_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|10/15|c.927-5C>A||||||,G|splice_region_variant&intron_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|10/15|c.927-5C>G||||||,T|splice_region_variant&intron_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|10/15|c.927-5C>T||||||,A|splice_region_variant&intron_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron|6/6|n.835-5C>A||||||,G|splice_region_variant&intron_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron|6/6|n.835-5C>G||||||,T|splice_region_variant&intron_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron|6/6|n.835-5C>T||||||,A|splice_region_variant&intron_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron|2/5|n.245-5C>A||||||,G|splice_region_variant&intron_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron|2/5|n.245-5C>G||||||,T|splice_region_variant&intron_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron|2/5|n.245-5C>T||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|12/18|c.1119-5C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|15/18|c.1119-5C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|11/18|c.1119-5C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|14/18|c.1119-5C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|13/18|c.1119-5C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|10/18|c.1119-5C>A||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|12/18|c.1119-5C>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|15/18|c.1119-5C>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|11/18|c.1119-5C>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|14/18|c.1119-5C>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|13/18|c.1119-5C>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|10/18|c.1119-5C>G||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|12/18|c.1119-5C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|15/18|c.1119-5C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|11/18|c.1119-5C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|14/18|c.1119-5C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|13/18|c.1119-5C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|10/18|c.1119-5C>T||||||,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript||n.*947C>A|||||145|,G|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript||n.*947C>G|||||145|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript||n.*947C>T|||||145|,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron||n.*330C>A|||||2381|,G|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron||n.*330C>G|||||2381|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron||n.*330C>T|||||2381|,A|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|4/5|n.677+887G>T||||||,G|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|4/5|n.677+887G>C||||||,T|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|4/5|n.677+887G>A|||||| 22 38043444 . C A . . ANN=A|splice_region_variant&intron_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|12/17|c.1119-4C>A||||||,A|splice_region_variant&intron_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|13/19|n.1119-4C>A||||||,A|splice_region_variant&intron_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|12/14|c.1119-4C>A||||||,A|splice_region_variant&intron_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|11/16|n.*1013-4C>A||||||,A|splice_region_variant&intron_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|12/16|c.1119-4C>A||||||,A|splice_region_variant&intron_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|11/16|n.1922-4C>A||||||,A|splice_region_variant&intron_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|10/15|c.927-4C>A||||||,A|splice_region_variant&intron_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron|6/6|n.835-4C>A||||||,A|splice_region_variant&intron_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron|2/5|n.245-4C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|12/18|c.1119-4C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|15/18|c.1119-4C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|11/18|c.1119-4C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|14/18|c.1119-4C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|13/18|c.1119-4C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|10/18|c.1119-4C>A||||||,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript||n.*947C>A|||||146|,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron||n.*330C>A|||||2382|,A|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|4/5|n.677+886G>T|||||| 22 38043526 . C A . . ANN=A|splice_region_variant&synonymous_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|13/18|c.1197C>A|p.Leu399Leu|1510/2852|1197/2106|399/701||,A|splice_region_variant&non_coding_exon_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|14/20|n.1197C>A||||||,A|splice_region_variant&synonymous_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|13/15|c.1197C>A|p.Leu399Leu|1308/1470|1197/1359|399/452||,A|splice_region_variant&non_coding_exon_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|12/17|n.*1091C>A||||||,A|splice_region_variant&synonymous_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|13/17|c.1197C>A|p.Leu399Leu|1290/1678|1197/1482|399/493||,A|splice_region_variant&non_coding_exon_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|12/17|n.2000C>A||||||,A|splice_region_variant&synonymous_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|11/16|c.1005C>A|p.Leu335Leu|1005/2879|1005/1818|335/605||,A|splice_region_variant&non_coding_exon_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron|3/6|n.323C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|12/18|c.1197C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|15/18|c.1197C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|11/18|c.1197C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|14/18|c.1197C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|13/18|c.1197C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|10/18|c.1197C>A||||||,A|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|12/17|n.*1091C>A|||||6142|,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript||n.*947C>A|||||228|,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron||n.*900C>A|||||13|,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron||n.*330C>A|||||2464|,A|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|4/5|n.677+804G>T|||||| 22 38043548 . C A . . ANN=A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|12/18|c.1199+20C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|15/18|c.1199+20C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|11/18|c.1199+20C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|14/18|c.1199+20C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|13/18|c.1199+20C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|10/18|c.1199+20C>A||||||,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript||n.*947C>A|||||250|,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron||n.*900C>A|||||35|,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron||n.*330C>A|||||2486|,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|13/17|c.1199+20C>A||||||,A|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|4/5|n.677+782G>T||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|14/19|n.1199+20C>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|13/14|c.1199+20C>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|12/16|n.*1093+20C>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|13/16|c.1199+20C>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|12/16|n.2002+20C>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|11/15|c.1007+20C>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron|3/5|n.325+20C>A|||||| 22 38043568 . G C . . ANN=C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|12/18|c.1199+40G>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|15/18|c.1199+40G>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|11/18|c.1199+40G>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|14/18|c.1199+40G>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|13/18|c.1199+40G>C||||||,C|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|10/18|c.1199+40G>C||||||,C|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript||n.*947G>C|||||270|,C|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron||n.*900G>C|||||55|,C|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron||n.*330G>C|||||2506|,C|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|13/17|c.1199+40G>C||||||,C|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|4/5|n.677+762C>G||||||,C|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|14/19|n.1199+40G>C||||||,C|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|13/14|c.1199+40G>C||||||,C|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|12/16|n.*1093+40G>C||||||,C|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|13/16|c.1199+40G>C||||||,C|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|12/16|n.2002+40G>C||||||,C|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|11/15|c.1007+40G>C||||||,C|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron|3/5|n.325+40G>C|||||| 22 38044289 . C T . . ANN=T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|12/18|c.1200-37C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|15/18|c.1200-37C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|11/18|c.1200-37C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|14/18|c.1200-37C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|13/18|c.1200-37C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|10/18|c.1200-37C>T||||||,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript||n.*947C>T|||||991|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron||n.*900C>T|||||776|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron||n.*330C>T|||||3227|,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|13/17|c.1200-37C>T||||||,T|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|4/5|n.677+41G>A||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|14/19|n.1200-37C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|13/14|c.1200-37C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|12/16|n.*1094-37C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|13/16|c.1200-37C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|12/16|n.2003-37C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|11/15|c.1008-37C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron|3/5|n.326-37C>T|||||| 22 38044298 . C A . . ANN=A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|12/18|c.1200-28C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|15/18|c.1200-28C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|11/18|c.1200-28C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|14/18|c.1200-28C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|13/18|c.1200-28C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|10/18|c.1200-28C>A||||||,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript||n.*947C>A|||||1000|,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron||n.*900C>A|||||785|,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron||n.*330C>A|||||3236|,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|13/17|c.1200-28C>A||||||,A|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|4/5|n.677+32G>T||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|14/19|n.1200-28C>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|13/14|c.1200-28C>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|12/16|n.*1094-28C>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|13/16|c.1200-28C>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|12/16|n.2003-28C>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|11/15|c.1008-28C>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron|3/5|n.326-28C>A|||||| 22 38044341 . C T . . ANN=T|synonymous_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|14/18|c.1215C>T|p.Phe405Phe|1528/2852|1215/2106|405/701||,T|synonymous_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|14/15|c.1215C>T|p.Phe405Phe|1326/1470|1215/1359|405/452||,T|synonymous_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|14/17|c.1215C>T|p.Phe405Phe|1308/1678|1215/1482|405/493||,T|synonymous_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|12/16|c.1023C>T|p.Phe341Phe|1023/2879|1023/1818|341/605||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|12/18|c.1215C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|15/18|c.1215C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|11/18|c.1215C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|14/18|c.1215C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|13/18|c.1215C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|10/18|c.1215C>T||||||,T|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|13/17|n.*1109C>T|||||6957|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript||n.*947C>T|||||1043|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron||n.*900C>T|||||828|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron||n.*330C>T|||||3279|,T|non_coding_exon_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|4/6|n.666G>A||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|15/20|n.1215C>T||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|13/17|n.*1109C>T||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|13/17|n.2018C>T||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron|4/6|n.341C>T|||||| 22 38046109 . G T . . ANN=T|stop_gained|HIGH|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|15/15|c.1333G>T|p.Glu445*|1444/1470|1333/1359|445/452||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|12/18|c.1317-50G>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|15/18|c.1317-50G>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|11/18|c.1317-50G>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|14/18|c.1317-50G>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|13/18|c.1317-50G>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|10/18|c.1317-50G>T||||||,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript||n.*947G>T|||||2811|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron||n.*900G>T|||||2596|,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|14/17|c.1317-50G>T||||||,T|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|2/5|n.506-177C>A||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|13/16|n.*1211-50G>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|15/16|c.1415-50G>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|13/16|n.2120-50G>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|12/15|c.1125-50G>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron|4/5|n.443-50G>T||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|16/20|n.1333G>T|||||| 22 38046173 . T G . . ANN=G|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|15/18|c.1331T>G|p.Leu444Arg|1644/2852|1331/2106|444/701||,G|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|16/17|c.1429T>G|p.Trp477Gly|1522/1678|1429/1482|477/493||,G|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|13/16|c.1139T>G|p.Leu380Arg|1139/2879|1139/1818|380/605||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|12/18|c.1331T>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|15/18|c.1331T>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|11/18|c.1331T>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|14/18|c.1331T>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|13/18|c.1331T>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|10/18|c.1331T>G||||||,G|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|16/20|n.*38T>G|||||38|,G|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|14/17|n.*1225T>G|||||8789|,G|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding||c.*1470T>G|||||38|,G|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript||n.*947T>G|||||2875|,G|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron||n.*900T>G|||||2660|,G|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|2/5|n.505+165A>C||||||,G|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|16/20|n.*38T>G||||||,G|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|14/17|n.*1225T>G||||||,G|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|14/17|n.2134T>G||||||,G|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron|5/6|n.457T>G|||||| 22 38046235 . G A,T . . ANN=A|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|15/18|c.1393G>A|p.Ala465Thr|1706/2852|1393/2106|465/701||,T|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|15/18|c.1393G>T|p.Ala465Ser|1706/2852|1393/2106|465/701||,A|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|13/16|c.1201G>A|p.Ala401Thr|1201/2879|1201/1818|401/605||,T|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|13/16|c.1201G>T|p.Ala401Ser|1201/2879|1201/1818|401/605||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|12/18|c.1393G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|15/18|c.1393G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|11/18|c.1393G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|14/18|c.1393G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|13/18|c.1393G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|10/18|c.1393G>A||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|12/18|c.1393G>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|15/18|c.1393G>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|11/18|c.1393G>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|14/18|c.1393G>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|13/18|c.1393G>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|10/18|c.1393G>T||||||,A|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|16/20|n.*100G>A|||||100|,T|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|16/20|n.*100G>T|||||100|,A|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|14/17|n.*1287G>A|||||8851|,T|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|14/17|n.*1287G>T|||||8851|,A|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|16/17|c.*9G>A|||||9|,T|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|16/17|c.*9G>T|||||9|,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding||c.*1470G>A|||||100|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding||c.*1470G>T|||||100|,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript||n.*947G>A|||||2937|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript||n.*947G>T|||||2937|,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron||n.*900G>A|||||2722|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron||n.*900G>T|||||2722|,A|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|2/5|n.505+103C>T||||||,T|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|2/5|n.505+103C>A||||||,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|16/20|n.*100G>A||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|16/20|n.*100G>T||||||,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|14/17|n.*1287G>A||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|14/17|n.*1287G>T||||||,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|14/17|n.2196G>A||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|14/17|n.2196G>T||||||,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron|5/6|n.519G>A||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron|5/6|n.519G>T|||||| 22 38046262 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|15/17|c.1414+6G>A||||||,A|splice_region_variant&intron_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|16/19|n.*121+6G>A||||||,A|splice_region_variant&intron_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|14/16|n.*1308+6G>A||||||,A|splice_region_variant&intron_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|16/16|c.*30+6G>A||||||,A|splice_region_variant&intron_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|14/16|n.2217+6G>A||||||,A|splice_region_variant&intron_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|13/15|c.1222+6G>A||||||,A|splice_region_variant&intron_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron|5/5|n.540+6G>A||||||,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding||c.*1470G>A|||||127|,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript||n.*947G>A|||||2964|,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron||n.*900G>A|||||2749|,A|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|2/5|n.505+76C>T|||||| 22 38046511 . C T . . ANN=T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding||c.*1470C>T|||||376|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript||n.*947C>T|||||3213|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron||n.*900C>T|||||2998|,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|15/17|c.1415-38C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|16/19|n.*122-38C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|14/16|n.*1309-38C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|16/16|c.*31-38C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|14/16|n.2218-38C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|13/15|c.1223-38C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron|5/5|n.541-38C>T||||||,T|non_coding_exon_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|2/6|n.332G>A|||||| 22 38046512 . G A . . ANN=A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding||c.*1470G>A|||||377|,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript||n.*947G>A|||||3214|,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron||n.*900G>A|||||2999|,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|15/17|c.1415-37G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|16/19|n.*122-37G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|14/16|n.*1309-37G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|16/16|c.*31-37G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|14/16|n.2218-37G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|13/15|c.1223-37G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron|5/5|n.541-37G>A||||||,A|non_coding_exon_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|2/6|n.331C>T|||||| 22 38046531 . C T . . ANN=T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding||c.*1470C>T|||||396|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript||n.*947C>T|||||3233|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron||n.*900C>T|||||3018|,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|15/17|c.1415-18C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|16/19|n.*122-18C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|14/16|n.*1309-18C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|16/16|c.*31-18C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|14/16|n.2218-18C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|13/15|c.1223-18C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron|5/5|n.541-18C>T||||||,T|non_coding_exon_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|2/6|n.312G>A|||||| 22 38046666 . C T . . ANN=T|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|16/18|c.1532C>T|p.Pro511Leu|1845/2852|1532/2106|511/701||,T|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|14/16|c.1340C>T|p.Pro447Leu|1340/2879|1340/1818|447/605||,T|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|17/20|n.*239C>T|||||531|,T|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|15/17|n.*1426C>T|||||9282|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding||c.*1470C>T|||||531|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding||c.*1575C>T|||||45|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript||n.*947C>T|||||3368|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron||n.*900C>T|||||3153|,T|non_coding_exon_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|2/6|n.177G>A||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|17/20|n.*239C>T||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|15/17|n.*1426C>T||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|15/17|n.2335C>T||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron|6/6|n.658C>T|||||| 22 38046672 . C T . . ANN=T|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|16/18|c.1538C>T|p.Pro513Leu|1851/2852|1538/2106|513/701||,T|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|14/16|c.1346C>T|p.Pro449Leu|1346/2879|1346/1818|449/605||,T|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|17/20|n.*245C>T|||||537|,T|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|15/17|n.*1432C>T|||||9288|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding||c.*1470C>T|||||537|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding||c.*1575C>T|||||51|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript||n.*947C>T|||||3374|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron||n.*900C>T|||||3159|,T|non_coding_exon_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|2/6|n.171G>A||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|17/20|n.*245C>T||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|15/17|n.*1432C>T||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|15/17|n.2341C>T||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron|6/6|n.664C>T|||||| 22 38046678 . C T . . ANN=T|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|16/18|c.1544C>T|p.Pro515Leu|1857/2852|1544/2106|515/701||,T|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|14/16|c.1352C>T|p.Pro451Leu|1352/2879|1352/1818|451/605||,T|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|17/20|n.*251C>T|||||543|,T|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|15/17|n.*1438C>T|||||9294|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding||c.*1470C>T|||||543|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding||c.*1575C>T|||||57|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript||n.*947C>T|||||3380|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron||n.*900C>T|||||3165|,T|non_coding_exon_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|2/6|n.165G>A||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|17/20|n.*251C>T||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|15/17|n.*1438C>T||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|15/17|n.2347C>T||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron|6/6|n.670C>T|||||| 22 38046695 . C A . . ANN=A|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|16/18|c.1561C>A|p.Pro521Thr|1874/2852|1561/2106|521/701||,A|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|14/16|c.1369C>A|p.Pro457Thr|1369/2879|1369/1818|457/605||,A|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|17/20|n.*268C>A|||||560|,A|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|15/17|n.*1455C>A|||||9311|,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding||c.*1470C>A|||||560|,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding||c.*1575C>A|||||74|,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript||n.*947C>A|||||3397|,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron||n.*900C>A|||||3182|,A|non_coding_exon_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|2/6|n.148G>T||||||,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|17/20|n.*268C>A||||||,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|15/17|n.*1455C>A||||||,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|15/17|n.2364C>A||||||,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron|6/6|n.687C>A|||||| 22 38046718 . A G . . ANN=G|splice_region_variant&non_coding_exon_variant|LOW|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|2/6|n.125T>C||||||,G|synonymous_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|16/18|c.1584A>G|p.Ala528Ala|1897/2852|1584/2106|528/701||,G|synonymous_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|14/16|c.1392A>G|p.Ala464Ala|1392/2879|1392/1818|464/605||,G|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|17/20|n.*291A>G|||||583|,G|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|15/17|n.*1478A>G|||||9334|,G|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding||c.*1470A>G|||||583|,G|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding||c.*1575A>G|||||97|,G|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript||n.*947A>G|||||3420|,G|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron||n.*900A>G|||||3205|,G|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|17/20|n.*291A>G||||||,G|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|15/17|n.*1478A>G||||||,G|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|15/17|n.2387A>G||||||,G|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron|6/6|n.710A>G|||||| 22 38049816 . C T . . ANN=T|synonymous_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|17/18|c.1629C>T|p.Ala543Ala|1942/2852|1629/2106|543/701||,T|synonymous_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|15/16|c.1437C>T|p.Ala479Ala|1437/2879|1437/1818|479/605||,T|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|18/20|n.*336C>T|||||3681|,T|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|16/17|n.*1523C>T|||||12432|,T|upstream_gene_variant|MODIFIER|PDXP|ENSG00000241360|transcript|ENST00000215904|protein_coding||c.-57C>T|||||4918|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding||c.*1470C>T|||||3681|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding||c.*1575C>T|||||3195|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron||n.*777C>T|||||3031|,T|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|1/5|n.124-3097G>A||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|18/20|n.*336C>T||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|16/17|n.*1523C>T||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|16/17|n.2432C>T|||||| 22 38049843 . G A . . ANN=A|synonymous_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|17/18|c.1656G>A|p.Pro552Pro|1969/2852|1656/2106|552/701||,A|synonymous_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|15/16|c.1464G>A|p.Pro488Pro|1464/2879|1464/1818|488/605||,A|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|18/20|n.*363G>A|||||3708|,A|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|16/17|n.*1550G>A|||||12459|,A|upstream_gene_variant|MODIFIER|PDXP|ENSG00000241360|transcript|ENST00000215904|protein_coding||c.-57G>A|||||4891|,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding||c.*1470G>A|||||3708|,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding||c.*1575G>A|||||3222|,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron||n.*777G>A|||||3058|,A|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|1/5|n.124-3124C>T||||||,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|18/20|n.*363G>A||||||,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|16/17|n.*1550G>A||||||,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|16/17|n.2459G>A|||||| 22 38049878 . G A . . ANN=A|missense_variant&splice_region_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|17/18|c.1691G>A|p.Arg564Lys|2004/2852|1691/2106|564/701||,A|missense_variant&splice_region_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|15/16|c.1499G>A|p.Arg500Lys|1499/2879|1499/1818|500/605||,A|splice_region_variant&non_coding_exon_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|18/20|n.*398G>A||||||,A|splice_region_variant&non_coding_exon_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|16/17|n.*1585G>A||||||,A|splice_region_variant&non_coding_exon_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|16/17|n.2494G>A||||||,A|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|18/20|n.*398G>A|||||3743|,A|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|16/17|n.*1585G>A|||||12494|,A|upstream_gene_variant|MODIFIER|PDXP|ENSG00000241360|transcript|ENST00000215904|protein_coding||c.-57G>A|||||4856|,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding||c.*1470G>A|||||3743|,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding||c.*1575G>A|||||3257|,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron||n.*777G>A|||||3093|,A|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|1/5|n.124-3159C>T|||||| 22 38049922 . C T . . ANN=T|upstream_gene_variant|MODIFIER|PDXP|ENSG00000241360|transcript|ENST00000215904|protein_coding||c.-57C>T|||||4812|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding||c.*1470C>T|||||3787|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding||c.*1575C>T|||||3301|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron||n.*777C>T|||||3137|,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|17/17|c.1693+42C>T||||||,T|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|1/5|n.124-3203G>A||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|18/19|n.*400+42C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|16/16|n.*1587+42C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|16/16|n.2496+42C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|15/15|c.1501+42C>T|||||| 22 38051291 . C T . . ANN=T|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|18/18|c.1706C>T|p.Ala569Val|2019/2852|1706/2106|569/701||,T|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|19/20|n.*413C>T|||||5156|,T|upstream_gene_variant|MODIFIER|PDXP|ENSG00000241360|transcript|ENST00000215904|protein_coding||c.-57C>T|||||3443|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding||c.*1575C>T|||||4670|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron||n.*777C>T|||||4506|,T|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|1/5|n.123+2971G>A||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|16/16|n.*1587+1411C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|16/16|n.2497-642C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|15/15|c.1501+1411C>T||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|19/20|n.*413C>T|||||| 22 38051328 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|19/19|n.*444+6C>T||||||,T|synonymous_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|18/18|c.1743C>T|p.Ser581Ser|2056/2852|1743/2106|581/701||,T|upstream_gene_variant|MODIFIER|PDXP|ENSG00000241360|transcript|ENST00000215904|protein_coding||c.-57C>T|||||3406|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding||c.*1575C>T|||||4707|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron||n.*777C>T|||||4543|,T|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|1/5|n.123+2934G>A||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|16/16|n.*1587+1448C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|16/16|n.2497-605C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|15/15|c.1501+1448C>T|||||| 22 38051329 . G A . . ANN=A|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|18/18|c.1744G>A|p.Gly582Ser|2057/2852|1744/2106|582/701||,A|splice_region_variant&intron_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|19/19|n.*444+7G>A||||||,A|upstream_gene_variant|MODIFIER|PDXP|ENSG00000241360|transcript|ENST00000215904|protein_coding||c.-57G>A|||||3405|,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding||c.*1575G>A|||||4708|,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron||n.*777G>A|||||4544|,A|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|1/5|n.123+2933C>T||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|16/16|n.*1587+1449G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|16/16|n.2497-604G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|15/15|c.1501+1449G>A|||||| 22 38051355 . G A . . ANN=A|synonymous_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|18/18|c.1770G>A|p.Pro590Pro|2083/2852|1770/2106|590/701||,A|upstream_gene_variant|MODIFIER|PDXP|ENSG00000241360|transcript|ENST00000215904|protein_coding||c.-57G>A|||||3379|,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding||c.*1575G>A|||||4734|,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron||n.*777G>A|||||4570|,A|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|1/5|n.123+2907C>T||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|19/19|n.*444+33G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|16/16|n.*1587+1475G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|16/16|n.2497-578G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|15/15|c.1501+1475G>A|||||| 22 38051451 . G A . . ANN=A|synonymous_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|18/18|c.1866G>A|p.Pro622Pro|2179/2852|1866/2106|622/701||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|short_sequence_motif:SH3-binding|ENST00000357436|protein_coding|18/18|c.1866G>A||||||,A|upstream_gene_variant|MODIFIER|PDXP|ENSG00000241360|transcript|ENST00000215904|protein_coding||c.-57G>A|||||3283|,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding||c.*1575G>A|||||4830|,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron||n.*777G>A|||||4666|,A|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|1/5|n.123+2811C>T||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|19/19|n.*444+129G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|16/16|n.*1587+1571G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|16/16|n.2497-482G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|15/15|c.1501+1571G>A|||||| 22 38051460 . C T . . ANN=T|synonymous_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|18/18|c.1875C>T|p.Pro625Pro|2188/2852|1875/2106|625/701||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|short_sequence_motif:SH3-binding|ENST00000357436|protein_coding|18/18|c.1875C>T||||||,T|upstream_gene_variant|MODIFIER|PDXP|ENSG00000241360|transcript|ENST00000215904|protein_coding||c.-57C>T|||||3274|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding||c.*1575C>T|||||4839|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron||n.*777C>T|||||4675|,T|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|1/5|n.123+2802G>A||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|19/19|n.*444+138C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|16/16|n.*1587+1580C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|16/16|n.2497-473C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|15/15|c.1501+1580C>T|||||| 22 38051493 . G T . . ANN=T|synonymous_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|18/18|c.1908G>T|p.Arg636Arg|2221/2852|1908/2106|636/701||,T|upstream_gene_variant|MODIFIER|PDXP|ENSG00000241360|transcript|ENST00000215904|protein_coding||c.-57G>T|||||3241|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding||c.*1575G>T|||||4872|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron||n.*777G>T|||||4708|,T|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|1/5|n.123+2769C>A||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|19/19|n.*444+171G>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|16/16|n.*1587+1613G>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|16/16|n.2497-440G>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|15/15|c.1501+1613G>T|||||| 22 38051508 . C T . . ANN=T|sequence_feature|MODERATE|SH3BP1|ENSG00000100092|amino_acid_modification:Phosphoserine|ENST00000357436|protein_coding|18/18|c.1923C>T||||||,T|synonymous_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|18/18|c.1923C>T|p.Ser641Ser|2236/2852|1923/2106|641/701||,T|upstream_gene_variant|MODIFIER|PDXP|ENSG00000241360|transcript|ENST00000215904|protein_coding||c.-57C>T|||||3226|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding||c.*1575C>T|||||4887|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron||n.*777C>T|||||4723|,T|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|1/5|n.123+2754G>A||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|19/19|n.*444+186C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|16/16|n.*1587+1628C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|16/16|n.2497-425C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|15/15|c.1501+1628C>T|||||| 22 38051511 . C A . . ANN=A|synonymous_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|18/18|c.1926C>A|p.Pro642Pro|2239/2852|1926/2106|642/701||,A|upstream_gene_variant|MODIFIER|PDXP|ENSG00000241360|transcript|ENST00000215904|protein_coding||c.-57C>A|||||3223|,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding||c.*1575C>A|||||4890|,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron||n.*777C>A|||||4726|,A|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|1/5|n.123+2751G>T||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|19/19|n.*444+189C>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|16/16|n.*1587+1631C>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|16/16|n.2497-422C>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|15/15|c.1501+1631C>A|||||| 22 38051571 . G A . . ANN=A|synonymous_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|18/18|c.1986G>A|p.Gln662Gln|2299/2852|1986/2106|662/701||,A|upstream_gene_variant|MODIFIER|PDXP|ENSG00000241360|transcript|ENST00000215904|protein_coding||c.-57G>A|||||3163|,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding||c.*1575G>A|||||4950|,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron||n.*777G>A|||||4786|,A|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|1/5|n.123+2691C>T||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|19/19|n.*444+249G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|16/16|n.*1587+1691G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|16/16|n.2497-362G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|15/15|c.1501+1691G>A|||||| 22 38051628 . C A . . ANN=A|synonymous_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|18/18|c.2043C>A|p.Val681Val|2356/2852|2043/2106|681/701||,A|upstream_gene_variant|MODIFIER|PDXP|ENSG00000241360|transcript|ENST00000215904|protein_coding||c.-57C>A|||||3106|,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron||n.*777C>A|||||4843|,A|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|1/5|n.123+2634G>T||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|19/19|n.*445-305C>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|16/16|n.*1587+1748C>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|16/16|n.2497-305C>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|15/15|c.1501+1748C>A|||||| 22 38051632 . A T . . ANN=T|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|18/18|c.2047A>T|p.Thr683Ser|2360/2852|2047/2106|683/701||,T|upstream_gene_variant|MODIFIER|PDXP|ENSG00000241360|transcript|ENST00000215904|protein_coding||c.-57A>T|||||3102|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron||n.*777A>T|||||4847|,T|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|1/5|n.123+2630T>A||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|19/19|n.*445-301A>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|16/16|n.*1587+1752A>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|16/16|n.2497-301A>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|15/15|c.1501+1752A>T|||||| 22 38061514 . C T . . ANN=T|downstream_gene_variant|MODIFIER|RN7SL385P|ENSG00000241333|transcript|ENST00000468873|misc_RNA||n.*274G>A|||||3959|,T|intron_variant|MODIFIER|PDXP|ENSG00000241360|transcript|ENST00000215904|protein_coding|1/1|c.575-48C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|16/16|n.*1588-48C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|15/15|c.1502-48C>T||||||,T|intron_variant|MODIFIER|PDXP|ENSG00000241360|transcript|ENST00000403251|protein_coding|1/1|c.-77-48C>T|||||| 22 38061520 . C G . . ANN=G|downstream_gene_variant|MODIFIER|RN7SL385P|ENSG00000241333|transcript|ENST00000468873|misc_RNA||n.*274G>C|||||3953|,G|intron_variant|MODIFIER|PDXP|ENSG00000241360|transcript|ENST00000215904|protein_coding|1/1|c.575-42C>G||||||,G|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|16/16|n.*1588-42C>G||||||,G|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|15/15|c.1502-42C>G||||||,G|intron_variant|MODIFIER|PDXP|ENSG00000241360|transcript|ENST00000403251|protein_coding|1/1|c.-77-42C>G|||||| 22 38061544 . G A . . ANN=A|downstream_gene_variant|MODIFIER|RN7SL385P|ENSG00000241333|transcript|ENST00000468873|misc_RNA||n.*274C>T|||||3929|,A|intron_variant|MODIFIER|PDXP|ENSG00000241360|transcript|ENST00000215904|protein_coding|1/1|c.575-18G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|16/16|n.*1588-18G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|15/15|c.1502-18G>A||||||,A|intron_variant|MODIFIER|PDXP|ENSG00000241360|transcript|ENST00000403251|protein_coding|1/1|c.-77-18G>A|||||| 22 38061576 . G T . . ANN=T|missense_variant|MODERATE|PDXP|ENSG00000241360|transcript|ENST00000215904|protein_coding|2/2|c.589G>T|p.Ala197Ser|645/2010|589/891|197/296||,T|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|16/16|c.1516G>T|p.Ala506Ser|1516/2879|1516/1818|506/605||,T|sequence_feature|LOW|PDXP|ENSG00000241360|helix|ENST00000215904|protein_coding|2/2|c.589G>T||||||,T|5_prime_UTR_variant|MODIFIER|PDXP|ENSG00000241360|transcript|ENST00000403251|protein_coding|2/2|c.-63G>T|||||63|,T|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|17/17|n.*1602G>T|||||24192|,T|downstream_gene_variant|MODIFIER|RN7SL385P|ENSG00000241333|transcript|ENST00000468873|misc_RNA||n.*274C>A|||||3897|,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|17/17|n.*1602G>T|||||| 22 38061602 . A G . . ANN=G|synonymous_variant|LOW|PDXP|ENSG00000241360|transcript|ENST00000215904|protein_coding|2/2|c.615A>G|p.Gly205Gly|671/2010|615/891|205/296||,G|synonymous_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|16/16|c.1542A>G|p.Gly514Gly|1542/2879|1542/1818|514/605||,G|5_prime_UTR_variant|MODIFIER|PDXP|ENSG00000241360|transcript|ENST00000403251|protein_coding|2/2|c.-37A>G|||||37|,G|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|17/17|n.*1628A>G|||||24218|,G|downstream_gene_variant|MODIFIER|RN7SL385P|ENSG00000241333|transcript|ENST00000468873|misc_RNA||n.*274T>C|||||3871|,G|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|17/17|n.*1628A>G|||||| 22 38061637 . A T . . ANN=T|missense_variant|MODERATE|PDXP|ENSG00000241360|transcript|ENST00000215904|protein_coding|2/2|c.650A>T|p.Tyr217Phe|706/2010|650/891|217/296||,T|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|16/16|c.1577A>T|p.Tyr526Phe|1577/2879|1577/1818|526/605||,T|sequence_feature|LOW|PDXP|ENSG00000241360|helix|ENST00000215904|protein_coding|2/2|c.650A>T||||||,T|5_prime_UTR_variant|MODIFIER|PDXP|ENSG00000241360|transcript|ENST00000403251|protein_coding|2/2|c.-2A>T|||||2|,T|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|17/17|n.*1663A>T|||||24253|,T|downstream_gene_variant|MODIFIER|RN7SL385P|ENSG00000241333|transcript|ENST00000468873|misc_RNA||n.*274T>A|||||3836|,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|17/17|n.*1663A>T|||||| 22 38061785 . G A . . ANN=A|synonymous_variant|LOW|PDXP|ENSG00000241360|transcript|ENST00000215904|protein_coding|2/2|c.798G>A|p.Glu266Glu|854/2010|798/891|266/296||,A|synonymous_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|16/16|c.1725G>A|p.Glu575Glu|1725/2879|1725/1818|575/605||,A|synonymous_variant|LOW|PDXP|ENSG00000241360|transcript|ENST00000403251|protein_coding|2/2|c.147G>A|p.Glu49Glu|417/1571|147/240|49/79||,A|sequence_feature|LOW|PDXP|ENSG00000241360|helix|ENST00000215904|protein_coding|2/2|c.798G>A||||||,A|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|17/17|n.*1811G>A|||||24401|,A|downstream_gene_variant|MODIFIER|RN7SL385P|ENSG00000241333|transcript|ENST00000468873|misc_RNA||n.*274C>T|||||3688|,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|17/17|n.*1811G>A|||||| 22 38061816 . G A . . ANN=A|missense_variant|MODERATE|PDXP|ENSG00000241360|transcript|ENST00000215904|protein_coding|2/2|c.829G>A|p.Asp277Asn|885/2010|829/891|277/296||,A|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|16/16|c.1756G>A|p.Asp586Asn|1756/2879|1756/1818|586/605||,A|missense_variant|MODERATE|PDXP|ENSG00000241360|transcript|ENST00000403251|protein_coding|2/2|c.178G>A|p.Asp60Asn|448/1571|178/240|60/79||,A|sequence_feature|LOW|PDXP|ENSG00000241360|helix|ENST00000215904|protein_coding|2/2|c.829G>A||||||,A|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|17/17|n.*1842G>A|||||24432|,A|downstream_gene_variant|MODIFIER|RN7SL385P|ENSG00000241333|transcript|ENST00000468873|misc_RNA||n.*274C>T|||||3657|,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|17/17|n.*1842G>A|||||| 22 38071707 . A G . . ANN=G|5_prime_UTR_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000215909|protein_coding|1/4|c.-3A>G|||||3|,G|5_prime_UTR_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000425542|nonsense_mediated_decay|1/4|n.-3A>G|||||3|,G|5_prime_UTR_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000454173|nonsense_mediated_decay|1/5|n.-3A>G|||||3|,G|upstream_gene_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000489315|processed_transcript||n.-1A>G|||||425|,G|upstream_gene_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000472321|retained_intron||n.-1A>G|||||1299|,G|non_coding_exon_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000464120|retained_intron|1/2|n.49A>G||||||,G|non_coding_exon_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000425542|nonsense_mediated_decay|1/4|n.-3A>G||||||,G|non_coding_exon_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000480207|processed_transcript|1/3|n.19A>G||||||,G|non_coding_exon_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000454173|nonsense_mediated_decay|1/5|n.-3A>G|||||| 22 38071731 . A AC . . ANN=C|upstream_gene_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000489315|processed_transcript||n.-1_-1insC|||||400|,C|upstream_gene_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000472321|retained_intron||n.-1_-1insC|||||1274|,C|intron_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000215909|protein_coding|1/3|c.9+22dupC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000464120|retained_intron|1/1|n.60+22dupC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000425542|nonsense_mediated_decay|1/3|n.9+22dupC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000480207|processed_transcript|1/2|n.30+22dupC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000454173|nonsense_mediated_decay|1/4|n.9+22dupC||||||INFO_REALIGN_3_PRIME 22 38071738 . C A . . ANN=A|upstream_gene_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000489315|processed_transcript||n.-1C>A|||||394|,A|upstream_gene_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000472321|retained_intron||n.-1C>A|||||1268|,A|intron_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000215909|protein_coding|1/3|c.9+20C>A||||||,A|intron_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000464120|retained_intron|1/1|n.60+20C>A||||||,A|intron_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000425542|nonsense_mediated_decay|1/3|n.9+20C>A||||||,A|intron_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000480207|processed_transcript|1/2|n.30+20C>A||||||,A|intron_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000454173|nonsense_mediated_decay|1/4|n.9+20C>A|||||| 22 38071739 . C A . . ANN=A|upstream_gene_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000489315|processed_transcript||n.-1C>A|||||393|,A|upstream_gene_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000472321|retained_intron||n.-1C>A|||||1267|,A|intron_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000215909|protein_coding|1/3|c.9+21C>A||||||,A|intron_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000464120|retained_intron|1/1|n.60+21C>A||||||,A|intron_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000425542|nonsense_mediated_decay|1/3|n.9+21C>A||||||,A|intron_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000480207|processed_transcript|1/2|n.30+21C>A||||||,A|intron_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000454173|nonsense_mediated_decay|1/4|n.9+21C>A|||||| 22 38071763 . A G . . ANN=G|upstream_gene_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000489315|processed_transcript||n.-1A>G|||||369|,G|upstream_gene_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000472321|retained_intron||n.-1A>G|||||1243|,G|intron_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000215909|protein_coding|1/3|c.9+45A>G||||||,G|intron_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000464120|retained_intron|1/1|n.60+45A>G||||||,G|intron_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000425542|nonsense_mediated_decay|1/3|n.9+45A>G||||||,G|intron_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000480207|processed_transcript|1/2|n.30+45A>G||||||,G|intron_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000454173|nonsense_mediated_decay|1/4|n.9+45A>G|||||| 22 38072958 . C T . . ANN=T|upstream_gene_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000472321|retained_intron||n.-1C>T|||||48|,T|upstream_gene_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000493862|processed_transcript||n.-1C>T|||||4722|,T|intron_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000215909|protein_coding|1/3|c.10-35C>T||||||,T|intron_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000464120|retained_intron|1/1|n.61-35C>T||||||,T|intron_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000480207|processed_transcript|1/2|n.31-35C>T||||||,T|intron_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000454173|nonsense_mediated_decay|1/4|n.10-35C>T||||||,T|intron_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000489315|processed_transcript|1/3|n.65-35C>T||||||,T|non_coding_exon_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000425542|nonsense_mediated_decay|2/4|n.105C>T|||||| 22 38072978 . G A . . ANN=A|upstream_gene_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000472321|retained_intron||n.-1G>A|||||28|,A|upstream_gene_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000493862|processed_transcript||n.-1G>A|||||4702|,A|intron_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000215909|protein_coding|1/3|c.10-15G>A||||||,A|intron_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000464120|retained_intron|1/1|n.61-15G>A||||||,A|intron_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000480207|processed_transcript|1/2|n.31-15G>A||||||,A|intron_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000454173|nonsense_mediated_decay|1/4|n.10-15G>A||||||,A|intron_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000489315|processed_transcript|1/3|n.65-15G>A||||||,A|non_coding_exon_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000425542|nonsense_mediated_decay|2/4|n.125G>A|||||| 22 38072983 . G T . . ANN=T|upstream_gene_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000472321|retained_intron||n.-1G>T|||||23|,T|upstream_gene_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000493862|processed_transcript||n.-1G>T|||||4697|,T|intron_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000215909|protein_coding|1/3|c.10-10G>T||||||,T|intron_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000464120|retained_intron|1/1|n.61-10G>T||||||,T|intron_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000480207|processed_transcript|1/2|n.31-10G>T||||||,T|intron_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000454173|nonsense_mediated_decay|1/4|n.10-10G>T||||||,T|intron_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000489315|processed_transcript|1/3|n.65-10G>T||||||,T|non_coding_exon_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000425542|nonsense_mediated_decay|2/4|n.130G>T|||||| 22 38074477 . C T . . ANN=T|sequence_feature|MODERATE|LGALS1|ENSG00000100097|amino_acid_modification:Phosphoserine|ENST00000215909|protein_coding|2/4|c.90-13C>T||||||,T|sequence_feature|MODERATE|LGALS1|ENSG00000100097|amino_acid_modification:Phosphoserine|ENST00000215909|protein_coding|3/4|c.90-13C>T||||||,T|sequence_feature|LOW|LGALS1|ENSG00000100097|domain:Galectin|ENST00000215909|protein_coding|2/4|c.90-13C>T||||||,T|sequence_feature|LOW|LGALS1|ENSG00000100097|domain:Galectin|ENST00000215909|protein_coding|3/4|c.90-13C>T||||||,T|sequence_feature|LOW|LGALS1|ENSG00000100097|domain:Galectin|ENST00000215909|protein_coding|4/4|c.90-13C>T||||||,T|sequence_feature|LOW|LGALS1|ENSG00000100097|beta_strand|ENST00000215909|protein_coding|2/4|c.90-13C>T||||||,T|sequence_feature|LOW|LGALS1|ENSG00000100097|beta_strand|ENST00000215909|protein_coding|3/4|c.90-13C>T||||||,T|upstream_gene_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000493862|processed_transcript||n.-1C>T|||||3203|,T|downstream_gene_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000464120|retained_intron||n.*303C>T|||||1242|,T|downstream_gene_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000480207|processed_transcript||n.*185C>T|||||874|,T|intron_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000215909|protein_coding|2/3|c.90-13C>T||||||,T|intron_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000425542|nonsense_mediated_decay|2/3|n.*10-13C>T||||||,T|intron_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000454173|nonsense_mediated_decay|3/4|n.107-13C>T||||||,T|intron_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000489315|processed_transcript|2/3|n.145-13C>T||||||,T|non_coding_exon_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000472321|retained_intron|2/3|n.162C>T|||||| 22 38074598 . C T . . ANN=T|synonymous_variant|LOW|LGALS1|ENSG00000100097|transcript|ENST00000215909|protein_coding|3/4|c.198C>T|p.Gly66Gly|293/560|198/408|66/135||,T|sequence_feature|LOW|LGALS1|ENSG00000100097|domain:Galectin|ENST00000215909|protein_coding|2/4|c.198C>T||||||,T|sequence_feature|LOW|LGALS1|ENSG00000100097|domain:Galectin|ENST00000215909|protein_coding|3/4|c.198C>T||||||,T|sequence_feature|LOW|LGALS1|ENSG00000100097|domain:Galectin|ENST00000215909|protein_coding|4/4|c.198C>T||||||,T|3_prime_UTR_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000425542|nonsense_mediated_decay|3/4|n.*118C>T|||||1535|,T|3_prime_UTR_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000454173|nonsense_mediated_decay|4/5|n.*98C>T|||||98|,T|upstream_gene_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000493862|processed_transcript||n.-1C>T|||||3082|,T|downstream_gene_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000464120|retained_intron||n.*303C>T|||||1363|,T|downstream_gene_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000480207|processed_transcript||n.*185C>T|||||995|,T|non_coding_exon_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000425542|nonsense_mediated_decay|3/4|n.*118C>T||||||,T|non_coding_exon_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000454173|nonsense_mediated_decay|4/5|n.*98C>T||||||,T|non_coding_exon_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000489315|processed_transcript|3/4|n.253C>T||||||,T|non_coding_exon_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000472321|retained_intron|2/3|n.283C>T|||||| 22 38074613 . C T . . ANN=T|synonymous_variant|LOW|LGALS1|ENSG00000100097|transcript|ENST00000215909|protein_coding|3/4|c.213C>T|p.Thr71Thr|308/560|213/408|71/135||,T|sequence_feature|LOW|LGALS1|ENSG00000100097|domain:Galectin|ENST00000215909|protein_coding|2/4|c.213C>T||||||,T|sequence_feature|LOW|LGALS1|ENSG00000100097|domain:Galectin|ENST00000215909|protein_coding|3/4|c.213C>T||||||,T|sequence_feature|LOW|LGALS1|ENSG00000100097|domain:Galectin|ENST00000215909|protein_coding|4/4|c.213C>T||||||,T|sequence_feature|LOW|LGALS1|ENSG00000100097|region_of_interest:Beta-galactoside_binding|ENST00000215909|protein_coding|3/4|c.213C>T||||||,T|3_prime_UTR_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000425542|nonsense_mediated_decay|3/4|n.*133C>T|||||1550|,T|3_prime_UTR_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000454173|nonsense_mediated_decay|4/5|n.*113C>T|||||113|,T|upstream_gene_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000493862|processed_transcript||n.-1C>T|||||3067|,T|downstream_gene_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000464120|retained_intron||n.*303C>T|||||1378|,T|downstream_gene_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000480207|processed_transcript||n.*185C>T|||||1010|,T|non_coding_exon_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000425542|nonsense_mediated_decay|3/4|n.*133C>T||||||,T|non_coding_exon_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000454173|nonsense_mediated_decay|4/5|n.*113C>T||||||,T|non_coding_exon_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000489315|processed_transcript|3/4|n.268C>T||||||,T|non_coding_exon_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000472321|retained_intron|2/3|n.298C>T|||||| 22 38074614 . G A . . ANN=A|missense_variant|MODERATE|LGALS1|ENSG00000100097|transcript|ENST00000215909|protein_coding|3/4|c.214G>A|p.Glu72Lys|309/560|214/408|72/135||,A|sequence_feature|LOW|LGALS1|ENSG00000100097|domain:Galectin|ENST00000215909|protein_coding|2/4|c.214G>A||||||,A|sequence_feature|LOW|LGALS1|ENSG00000100097|domain:Galectin|ENST00000215909|protein_coding|3/4|c.214G>A||||||,A|sequence_feature|LOW|LGALS1|ENSG00000100097|domain:Galectin|ENST00000215909|protein_coding|4/4|c.214G>A||||||,A|sequence_feature|LOW|LGALS1|ENSG00000100097|region_of_interest:Beta-galactoside_binding|ENST00000215909|protein_coding|3/4|c.214G>A||||||,A|3_prime_UTR_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000425542|nonsense_mediated_decay|3/4|n.*134G>A|||||1551|,A|3_prime_UTR_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000454173|nonsense_mediated_decay|4/5|n.*114G>A|||||114|,A|upstream_gene_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000493862|processed_transcript||n.-1G>A|||||3066|,A|downstream_gene_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000464120|retained_intron||n.*303G>A|||||1379|,A|downstream_gene_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000480207|processed_transcript||n.*185G>A|||||1011|,A|non_coding_exon_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000425542|nonsense_mediated_decay|3/4|n.*134G>A||||||,A|non_coding_exon_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000454173|nonsense_mediated_decay|4/5|n.*114G>A||||||,A|non_coding_exon_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000489315|processed_transcript|3/4|n.269G>A||||||,A|non_coding_exon_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000472321|retained_intron|2/3|n.299G>A|||||| 22 38074682 . G A . . ANN=A|sequence_feature|LOW|LGALS1|ENSG00000100097|domain:Galectin|ENST00000215909|protein_coding|2/4|c.261+21G>A||||||,A|sequence_feature|LOW|LGALS1|ENSG00000100097|domain:Galectin|ENST00000215909|protein_coding|3/4|c.261+21G>A||||||,A|sequence_feature|LOW|LGALS1|ENSG00000100097|domain:Galectin|ENST00000215909|protein_coding|4/4|c.261+21G>A||||||,A|sequence_feature|LOW|LGALS1|ENSG00000100097|beta_strand|ENST00000215909|protein_coding|3/4|c.261+21G>A||||||,A|sequence_feature|LOW|LGALS1|ENSG00000100097|beta_strand|ENST00000215909|protein_coding|4/4|c.261+21G>A||||||,A|upstream_gene_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000493862|processed_transcript||n.-1G>A|||||2998|,A|downstream_gene_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000464120|retained_intron||n.*303G>A|||||1447|,A|downstream_gene_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000480207|processed_transcript||n.*185G>A|||||1079|,A|intron_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000215909|protein_coding|3/3|c.261+21G>A||||||,A|intron_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000425542|nonsense_mediated_decay|3/3|n.*181+21G>A||||||,A|intron_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000454173|nonsense_mediated_decay|4/4|n.*161+21G>A||||||,A|intron_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000489315|processed_transcript|3/3|n.316+21G>A||||||,A|intron_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000472321|retained_intron|2/2|n.346+21G>A|||||| 22 38075660 . A T . . ANN=T|synonymous_variant|LOW|LGALS1|ENSG00000100097|transcript|ENST00000215909|protein_coding|4/4|c.312A>T|p.Gly104Gly|407/560|312/408|104/135||,T|sequence_feature|LOW|LGALS1|ENSG00000100097|domain:Galectin|ENST00000215909|protein_coding|2/4|c.312A>T||||||,T|sequence_feature|LOW|LGALS1|ENSG00000100097|domain:Galectin|ENST00000215909|protein_coding|3/4|c.312A>T||||||,T|sequence_feature|LOW|LGALS1|ENSG00000100097|domain:Galectin|ENST00000215909|protein_coding|4/4|c.312A>T||||||,T|sequence_feature|LOW|LGALS1|ENSG00000100097|helix|ENST00000215909|protein_coding|4/4|c.312A>T||||||,T|3_prime_UTR_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000425542|nonsense_mediated_decay|4/4|n.*232A>T|||||2597|,T|upstream_gene_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000493862|processed_transcript||n.-1A>T|||||2020|,T|downstream_gene_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000464120|retained_intron||n.*303A>T|||||2425|,T|downstream_gene_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000480207|processed_transcript||n.*185A>T|||||2057|,T|downstream_gene_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000454173|nonsense_mediated_decay||n.*132A>T|||||13|,T|non_coding_exon_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000425542|nonsense_mediated_decay|4/4|n.*232A>T||||||,T|non_coding_exon_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000489315|processed_transcript|4/4|n.367A>T||||||,T|non_coding_exon_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000472321|retained_intron|3/3|n.397A>T|||||| 22 38075683 . G A . . ANN=A|missense_variant|MODERATE|LGALS1|ENSG00000100097|transcript|ENST00000215909|protein_coding|4/4|c.335G>A|p.Arg112His|430/560|335/408|112/135||,A|sequence_feature|LOW|LGALS1|ENSG00000100097|domain:Galectin|ENST00000215909|protein_coding|2/4|c.335G>A||||||,A|sequence_feature|LOW|LGALS1|ENSG00000100097|domain:Galectin|ENST00000215909|protein_coding|3/4|c.335G>A||||||,A|sequence_feature|LOW|LGALS1|ENSG00000100097|domain:Galectin|ENST00000215909|protein_coding|4/4|c.335G>A||||||,A|3_prime_UTR_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000425542|nonsense_mediated_decay|4/4|n.*255G>A|||||2620|,A|upstream_gene_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000493862|processed_transcript||n.-1G>A|||||1997|,A|downstream_gene_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000464120|retained_intron||n.*303G>A|||||2448|,A|downstream_gene_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000480207|processed_transcript||n.*185G>A|||||2080|,A|downstream_gene_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000454173|nonsense_mediated_decay||n.*132G>A|||||36|,A|non_coding_exon_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000425542|nonsense_mediated_decay|4/4|n.*255G>A||||||,A|non_coding_exon_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000489315|processed_transcript|4/4|n.390G>A||||||,A|non_coding_exon_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000472321|retained_intron|3/3|n.420G>A|||||| 22 38075720 . C T . . ANN=T|synonymous_variant|LOW|LGALS1|ENSG00000100097|transcript|ENST00000215909|protein_coding|4/4|c.372C>T|p.Asp124Asp|467/560|372/408|124/135||,T|sequence_feature|LOW|LGALS1|ENSG00000100097|domain:Galectin|ENST00000215909|protein_coding|2/4|c.372C>T||||||,T|sequence_feature|LOW|LGALS1|ENSG00000100097|domain:Galectin|ENST00000215909|protein_coding|3/4|c.372C>T||||||,T|sequence_feature|LOW|LGALS1|ENSG00000100097|domain:Galectin|ENST00000215909|protein_coding|4/4|c.372C>T||||||,T|sequence_feature|LOW|LGALS1|ENSG00000100097|beta_strand|ENST00000215909|protein_coding|4/4|c.372C>T||||||,T|3_prime_UTR_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000425542|nonsense_mediated_decay|4/4|n.*292C>T|||||2657|,T|upstream_gene_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000493862|processed_transcript||n.-1C>T|||||1960|,T|downstream_gene_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000464120|retained_intron||n.*303C>T|||||2485|,T|downstream_gene_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000480207|processed_transcript||n.*185C>T|||||2117|,T|downstream_gene_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000454173|nonsense_mediated_decay||n.*132C>T|||||73|,T|non_coding_exon_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000425542|nonsense_mediated_decay|4/4|n.*292C>T||||||,T|non_coding_exon_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000489315|processed_transcript|4/4|n.427C>T||||||,T|non_coding_exon_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000472321|retained_intron|3/3|n.457C>T|||||| 22 38082372 . G C . . ANN=C|5_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000359114|protein_coding|1/6|c.-28G>C|||||28|,C|5_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000438329|nonsense_mediated_decay|1/7|n.-28G>C|||||28|,C|upstream_gene_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay||n.-1G>C|||||49|,C|upstream_gene_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000484650|retained_intron||n.-1G>C|||||1420|,C|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000493862|processed_transcript|1/6|n.221-1545G>C||||||,C|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000438329|nonsense_mediated_decay|1/7|n.-28G>C||||||,C|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000474032|retained_intron|1/2|n.23G>C||||||,C|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000468597|retained_intron|1/5|n.20G>C|||||| 22 38082421 . A C . . ANN=C|missense_variant|MODERATE|NOL12|ENSG00000100101|transcript|ENST00000359114|protein_coding|1/6|c.22A>C|p.Lys8Gln|92/2852|22/642|8/213||,C|upstream_gene_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000484650|retained_intron||n.-1A>C|||||1371|,C|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000493862|processed_transcript|1/6|n.221-1496A>C||||||,C|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000438329|nonsense_mediated_decay|1/7|n.22A>C||||||,C|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000474032|retained_intron|1/2|n.72A>C||||||,C|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000468597|retained_intron|1/5|n.69A>C||||||,C|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|1/28|n.1A>C|||||| 22 38082442 . C T . . ANN=T|missense_variant|MODERATE|NOL12|ENSG00000100101|transcript|ENST00000359114|protein_coding|1/6|c.43C>T|p.Arg15Trp|113/2852|43/642|15/213||,T|upstream_gene_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000484650|retained_intron||n.-1C>T|||||1350|,T|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000493862|processed_transcript|1/6|n.221-1475C>T||||||,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000438329|nonsense_mediated_decay|1/7|n.43C>T||||||,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000474032|retained_intron|1/2|n.93C>T||||||,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000468597|retained_intron|1/5|n.90C>T||||||,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|1/28|n.22C>T|||||| 22 38082479 . G T . . ANN=T|missense_variant|MODERATE|NOL12|ENSG00000100101|transcript|ENST00000359114|protein_coding|1/6|c.80G>T|p.Arg27Met|150/2852|80/642|27/213||,T|upstream_gene_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000484650|retained_intron||n.-1G>T|||||1313|,T|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000493862|processed_transcript|1/6|n.221-1438G>T||||||,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000438329|nonsense_mediated_decay|1/7|n.80G>T||||||,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000474032|retained_intron|1/2|n.130G>T||||||,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000468597|retained_intron|1/5|n.127G>T||||||,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|1/28|n.59G>T|||||| 22 38083908 . T G . . ANN=G|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000359114|protein_coding|1/5|c.84-9T>G||||||,G|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000493862|processed_transcript|1/6|n.221-9T>G||||||,G|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000438329|nonsense_mediated_decay|1/6|n.84-9T>G||||||,G|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000474032|retained_intron|1/1|n.134-9T>G||||||,G|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000468597|retained_intron|1/4|n.131-9T>G||||||,G|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|1/27|n.63-9T>G||||||,G|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000484650|retained_intron|1/5|n.117T>G|||||| 22 38083979 . T C . . ANN=C|missense_variant|MODERATE|NOL12|ENSG00000100101|transcript|ENST00000359114|protein_coding|2/6|c.146T>C|p.Ile49Thr|216/2852|146/642|49/213||,C|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000493862|processed_transcript|2/7|n.283T>C||||||,C|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000438329|nonsense_mediated_decay|2/7|n.146T>C||||||,C|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000474032|retained_intron|2/2|n.196T>C||||||,C|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000468597|retained_intron|2/5|n.193T>C||||||,C|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|2/28|n.125T>C||||||,C|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000484650|retained_intron|1/5|n.188T>C|||||| 22 38084029 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|NOL12|ENSG00000100101|transcript|ENST00000359114|protein_coding|2/5|c.189+7A>G||||||,G|splice_region_variant&intron_variant|LOW|NOL12|ENSG00000100101|transcript|ENST00000493862|processed_transcript|2/6|n.326+7A>G||||||,G|splice_region_variant&intron_variant|LOW|NOL12|ENSG00000100101|transcript|ENST00000438329|nonsense_mediated_decay|2/6|n.189+7A>G||||||,G|splice_region_variant&intron_variant|LOW|NOL12|ENSG00000100101|transcript|ENST00000468597|retained_intron|2/4|n.236+7A>G||||||,G|splice_region_variant&intron_variant|LOW|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|2/27|n.168+7A>G||||||,G|splice_region_variant&intron_variant|LOW|NOL12|ENSG00000100101|transcript|ENST00000484650|retained_intron|1/4|n.231+7A>G||||||,G|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000474032|retained_intron|2/2|n.246A>G|||||| 22 38084040 . G T . . ANN=T|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000359114|protein_coding|2/5|c.189+18G>T||||||,T|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000493862|processed_transcript|2/6|n.326+18G>T||||||,T|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000438329|nonsense_mediated_decay|2/6|n.189+18G>T||||||,T|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000468597|retained_intron|2/4|n.236+18G>T||||||,T|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|2/27|n.168+18G>T||||||,T|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000484650|retained_intron|1/4|n.231+18G>T||||||,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000474032|retained_intron|2/2|n.257G>T|||||| 22 38084404 . G A . . ANN=A|downstream_gene_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000474032|retained_intron||n.*523G>A|||||98|,A|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000359114|protein_coding|3/5|c.238+37G>A||||||,A|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000493862|processed_transcript|3/6|n.375+37G>A||||||,A|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000438329|nonsense_mediated_decay|3/6|n.238+37G>A||||||,A|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000468597|retained_intron|3/4|n.285+37G>A||||||,A|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|3/27|n.217+37G>A||||||,A|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000484650|retained_intron|2/4|n.280+37G>A|||||| 22 38084817 . G A . . ANN=A|downstream_gene_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000474032|retained_intron||n.*523G>A|||||511|,A|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000359114|protein_coding|3/5|c.239-40G>A||||||,A|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000493862|processed_transcript|3/6|n.376-40G>A||||||,A|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000438329|nonsense_mediated_decay|3/6|n.239-40G>A||||||,A|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000468597|retained_intron|3/4|n.286-40G>A||||||,A|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|3/27|n.218-40G>A||||||,A|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000484650|retained_intron|2/4|n.281-40G>A|||||| 22 38084896 . C T . . ANN=T|missense_variant|MODERATE|NOL12|ENSG00000100101|transcript|ENST00000359114|protein_coding|4/6|c.278C>T|p.Thr93Met|348/2852|278/642|93/213||,T|downstream_gene_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000474032|retained_intron||n.*523C>T|||||590|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000493862|processed_transcript|4/7|n.415C>T||||||,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000438329|nonsense_mediated_decay|4/7|n.278C>T||||||,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000468597|retained_intron|4/5|n.325C>T||||||,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|4/28|n.257C>T||||||,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000484650|retained_intron|3/5|n.320C>T|||||| 22 38084910 . T C . . ANN=C|missense_variant|MODERATE|NOL12|ENSG00000100101|transcript|ENST00000359114|protein_coding|4/6|c.292T>C|p.Tyr98His|362/2852|292/642|98/213||,C|downstream_gene_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000474032|retained_intron||n.*523T>C|||||604|,C|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000493862|processed_transcript|4/7|n.429T>C||||||,C|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000438329|nonsense_mediated_decay|4/7|n.292T>C||||||,C|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000468597|retained_intron|4/5|n.339T>C||||||,C|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|4/28|n.271T>C||||||,C|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000484650|retained_intron|3/5|n.334T>C|||||| 22 38085033 . C T . . ANN=T|downstream_gene_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000474032|retained_intron||n.*523C>T|||||727|,T|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000359114|protein_coding|4/5|c.381+34C>T||||||,T|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000493862|processed_transcript|4/6|n.518+34C>T||||||,T|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000438329|nonsense_mediated_decay|4/6|n.381+34C>T||||||,T|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000468597|retained_intron|4/4|n.428+34C>T||||||,T|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|4/27|n.360+34C>T||||||,T|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000484650|retained_intron|3/4|n.423+34C>T|||||| 22 38086725 . G A . . ANN=A|missense_variant|MODERATE|NOL12|ENSG00000100101|transcript|ENST00000359114|protein_coding|5/6|c.403G>A|p.Glu135Lys|473/2852|403/642|135/213||,A|downstream_gene_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000474032|retained_intron||n.*523G>A|||||2419|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000493862|processed_transcript|5/7|n.540G>A||||||,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000438329|nonsense_mediated_decay|5/7|n.403G>A||||||,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000468597|retained_intron|5/5|n.450G>A||||||,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|5/28|n.382G>A||||||,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000484650|retained_intron|4/5|n.445G>A|||||| 22 38086736 . G A . . ANN=A|synonymous_variant|LOW|NOL12|ENSG00000100101|transcript|ENST00000359114|protein_coding|5/6|c.414G>A|p.Ala138Ala|484/2852|414/642|138/213||,A|downstream_gene_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000474032|retained_intron||n.*523G>A|||||2430|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000493862|processed_transcript|5/7|n.551G>A||||||,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000438329|nonsense_mediated_decay|5/7|n.414G>A||||||,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000468597|retained_intron|5/5|n.461G>A||||||,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|5/28|n.393G>A||||||,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000484650|retained_intron|4/5|n.456G>A|||||| 22 38086744 . C T . . ANN=T|missense_variant|MODERATE|NOL12|ENSG00000100101|transcript|ENST00000359114|protein_coding|5/6|c.422C>T|p.Thr141Met|492/2852|422/642|141/213||,T|downstream_gene_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000474032|retained_intron||n.*523C>T|||||2438|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000493862|processed_transcript|5/7|n.559C>T||||||,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000438329|nonsense_mediated_decay|5/7|n.422C>T||||||,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000468597|retained_intron|5/5|n.469C>T||||||,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|5/28|n.401C>T||||||,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000484650|retained_intron|4/5|n.464C>T|||||| 22 38086745 . G A . . ANN=A|synonymous_variant|LOW|NOL12|ENSG00000100101|transcript|ENST00000359114|protein_coding|5/6|c.423G>A|p.Thr141Thr|493/2852|423/642|141/213||,A|downstream_gene_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000474032|retained_intron||n.*523G>A|||||2439|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000493862|processed_transcript|5/7|n.560G>A||||||,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000438329|nonsense_mediated_decay|5/7|n.423G>A||||||,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000468597|retained_intron|5/5|n.470G>A||||||,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|5/28|n.402G>A||||||,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000484650|retained_intron|4/5|n.465G>A|||||| 22 38086785 . C T . . ANN=T|missense_variant|MODERATE|NOL12|ENSG00000100101|transcript|ENST00000359114|protein_coding|5/6|c.463C>T|p.Pro155Ser|533/2852|463/642|155/213||,T|downstream_gene_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000474032|retained_intron||n.*523C>T|||||2479|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000493862|processed_transcript|5/7|n.600C>T||||||,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000438329|nonsense_mediated_decay|5/7|n.463C>T||||||,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000468597|retained_intron|5/5|n.510C>T||||||,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|5/28|n.442C>T||||||,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000484650|retained_intron|4/5|n.505C>T|||||| 22 38086823 . C G . . ANN=G|downstream_gene_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000474032|retained_intron||n.*523C>G|||||2517|,G|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000359114|protein_coding|5/5|c.479+22C>G||||||,G|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000493862|processed_transcript|5/6|n.616+22C>G||||||,G|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000438329|nonsense_mediated_decay|5/6|n.479+22C>G||||||,G|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|5/27|n.458+22C>G||||||,G|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000484650|retained_intron|4/4|n.521+22C>G||||||,G|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000468597|retained_intron|5/5|n.548C>G|||||| 22 38086826 . C T . . ANN=T|downstream_gene_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000474032|retained_intron||n.*523C>T|||||2520|,T|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000359114|protein_coding|5/5|c.479+25C>T||||||,T|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000493862|processed_transcript|5/6|n.616+25C>T||||||,T|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000438329|nonsense_mediated_decay|5/6|n.479+25C>T||||||,T|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|5/27|n.458+25C>T||||||,T|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000484650|retained_intron|4/4|n.521+25C>T||||||,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000468597|retained_intron|5/5|n.551C>T|||||| 22 38086835 . C G . . ANN=G|downstream_gene_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000474032|retained_intron||n.*523C>G|||||2529|,G|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000359114|protein_coding|5/5|c.479+34C>G||||||,G|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000493862|processed_transcript|5/6|n.616+34C>G||||||,G|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000438329|nonsense_mediated_decay|5/6|n.479+34C>G||||||,G|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|5/27|n.458+34C>G||||||,G|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000484650|retained_intron|4/4|n.521+34C>G||||||,G|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000468597|retained_intron|5/5|n.560C>G|||||| 22 38087144 . A G . . ANN=G|downstream_gene_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000474032|retained_intron||n.*523A>G|||||2838|,G|downstream_gene_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000468597|retained_intron||n.*632A>G|||||237|,G|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000359114|protein_coding|5/5|c.480-37A>G||||||,G|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000493862|processed_transcript|5/6|n.617-37A>G||||||,G|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000438329|nonsense_mediated_decay|5/6|n.480-37A>G||||||,G|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|5/27|n.459-37A>G||||||,G|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000484650|retained_intron|4/4|n.522-37A>G|||||| 22 38087237 . A G . . ANN=G|missense_variant|MODERATE|NOL12|ENSG00000100101|transcript|ENST00000359114|protein_coding|6/6|c.536A>G|p.Lys179Arg|606/2852|536/642|179/213||,G|downstream_gene_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000474032|retained_intron||n.*523A>G|||||2931|,G|downstream_gene_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000468597|retained_intron||n.*632A>G|||||330|,G|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000493862|processed_transcript|6/7|n.673A>G||||||,G|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000438329|nonsense_mediated_decay|6/7|n.536A>G||||||,G|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|6/28|n.515A>G||||||,G|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000484650|retained_intron|5/5|n.578A>G|||||| 22 38087309 . G C . . ANN=C|missense_variant|MODERATE|NOL12|ENSG00000100101|transcript|ENST00000359114|protein_coding|6/6|c.608G>C|p.Arg203Pro|678/2852|608/642|203/213||,C|downstream_gene_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000474032|retained_intron||n.*523G>C|||||3003|,C|downstream_gene_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000468597|retained_intron||n.*632G>C|||||402|,C|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000493862|processed_transcript|6/7|n.745G>C||||||,C|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000438329|nonsense_mediated_decay|6/7|n.608G>C||||||,C|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|6/28|n.587G>C||||||,C|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000484650|retained_intron|5/5|n.650G>C|||||| 22 38087359 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000359114|protein_coding|6/6|c.*16G>A|||||16|,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000438329|nonsense_mediated_decay|6/7|n.*16G>A|||||16|,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|6/28|n.*16G>A|||||16|,A|downstream_gene_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000474032|retained_intron||n.*523G>A|||||3053|,A|downstream_gene_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000468597|retained_intron||n.*632G>A|||||452|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000493862|processed_transcript|6/7|n.795G>A||||||,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000438329|nonsense_mediated_decay|6/7|n.*16G>A||||||,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|6/28|n.*16G>A||||||,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000484650|retained_intron|5/5|n.700G>A|||||| 22 38087378 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000359114|protein_coding|6/6|c.*35C>T|||||35|,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000438329|nonsense_mediated_decay|6/7|n.*35C>T|||||35|,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|6/28|n.*35C>T|||||35|,T|downstream_gene_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000474032|retained_intron||n.*523C>T|||||3072|,T|downstream_gene_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000468597|retained_intron||n.*632C>T|||||471|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000493862|processed_transcript|6/7|n.814C>T||||||,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000438329|nonsense_mediated_decay|6/7|n.*35C>T||||||,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|6/28|n.*35C>T||||||,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000484650|retained_intron|5/5|n.719C>T|||||| 22 38087382 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000359114|protein_coding|6/6|c.*39G>A|||||39|,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000438329|nonsense_mediated_decay|6/7|n.*39G>A|||||39|,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|6/28|n.*39G>A|||||39|,A|downstream_gene_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000474032|retained_intron||n.*523G>A|||||3076|,A|downstream_gene_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000468597|retained_intron||n.*632G>A|||||475|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000493862|processed_transcript|6/7|n.818G>A||||||,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000438329|nonsense_mediated_decay|6/7|n.*39G>A||||||,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|6/28|n.*39G>A||||||,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000484650|retained_intron|5/5|n.723G>A|||||| 22 38097359 . C G . . ANN=G|5_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|3/24|c.-14C>G|||||14|,G|5_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|2/22|n.-14C>G|||||14|,G|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|9/28|n.*323C>G|||||10016|,G|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|9/28|n.*323C>G||||||,G|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|2/5|n.123C>G||||||,G|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|2/22|n.-14C>G|||||| 22 38097492 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|3/23|c.114+6C>T||||||,T|splice_region_variant&intron_variant|LOW|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|9/27|n.*450+6C>T||||||,T|splice_region_variant&intron_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|2/4|n.250+6C>T||||||,T|splice_region_variant&intron_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|2/21|n.114+6C>T|||||| 22 38097502 . A G . . ANN=G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|3/23|c.114+16A>G||||||,G|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|9/27|n.*450+16A>G||||||,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|2/4|n.250+16A>G||||||,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|2/21|n.114+16A>G|||||| 22 38097529 . G C . . ANN=C|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|3/23|c.114+43G>C||||||,C|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|9/27|n.*450+43G>C||||||,C|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|2/4|n.250+43G>C||||||,C|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|2/21|n.114+43G>C|||||| 22 38106399 . C T . . ANN=T|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|3/23|c.115-35C>T||||||,T|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|9/27|n.*451-35C>T||||||,T|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|2/4|n.251-35C>T||||||,T|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|2/21|n.115-35C>T|||||| 22 38106403 . G A . . ANN=A|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|3/23|c.115-31G>A||||||,A|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|9/27|n.*451-31G>A||||||,A|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|2/4|n.251-31G>A||||||,A|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|2/21|n.115-31G>A|||||| 22 38106473 . G A . . ANN=A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|4/24|c.154G>A|p.Asp52Asn|409/10129|154/7098|52/2365||,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|10/28|n.*490G>A|||||19130|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|10/28|n.*490G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|3/5|n.290G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|3/22|n.154G>A|||||| 22 38106514 . C T . . ANN=T|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|4/24|c.195C>T|p.Ser65Ser|450/10129|195/7098|65/2365||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|10/28|n.*531C>T|||||19171|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|10/28|n.*531C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|3/5|n.331C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|3/22|n.195C>T|||||| 22 38109206 . T C . . ANN=C|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|4/23|c.255-11T>C||||||,C|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|10/27|n.*591-11T>C||||||,C|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|3/4|n.391-2564T>C||||||,C|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|3/21|n.255-2564T>C|||||| 22 38109227 . C G . . ANN=G|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|5/24|c.265C>G|p.Pro89Ala|520/10129|265/7098|89/2365||,G|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|11/28|n.*601C>G|||||21884|,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|3/4|n.391-2543C>G||||||,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|3/21|n.255-2543C>G||||||,G|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|11/28|n.*601C>G|||||| 22 38109327 . T C . . ANN=C|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|5/24|c.365T>C|p.Leu122Ser|620/10129|365/7098|122/2365||,C|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|11/28|n.*701T>C|||||21984|,C|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|3/4|n.391-2443T>C||||||,C|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|3/21|n.255-2443T>C||||||,C|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|11/28|n.*701T>C|||||| 22 38109343 . C T . . ANN=T|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|5/24|c.381C>T|p.Asn127Asn|636/10129|381/7098|127/2365||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|11/28|n.*717C>T|||||22000|,T|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|3/4|n.391-2427C>T||||||,T|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|3/21|n.255-2427C>T||||||,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|11/28|n.*717C>T|||||| 22 38109353 . G A . . ANN=A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|5/24|c.391G>A|p.Gly131Ser|646/10129|391/7098|131/2365||,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|11/28|n.*727G>A|||||22010|,A|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|3/4|n.391-2417G>A||||||,A|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|3/21|n.255-2417G>A||||||,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|11/28|n.*727G>A|||||| 22 38109371 . A G . . ANN=G|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|5/24|c.409A>G|p.Ser137Gly|664/10129|409/7098|137/2365||,G|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|11/28|n.*745A>G|||||22028|,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|3/4|n.391-2399A>G||||||,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|3/21|n.255-2399A>G||||||,G|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|11/28|n.*745A>G|||||| 22 38111789 . G A . . ANN=A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|6/24|c.476G>A|p.Arg159Lys|731/10129|476/7098|159/2365||,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|12/28|n.*812G>A|||||24446|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|12/28|n.*812G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|4/5|n.410G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|4/22|n.274G>A|||||| 22 38111790 . G T . . ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|6/24|c.477G>T|p.Arg159Ser|732/10129|477/7098|159/2365||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|12/28|n.*813G>T|||||24447|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|12/28|n.*813G>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|4/5|n.411G>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|4/22|n.275G>T|||||| 22 38111817 . C A . . ANN=A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|6/24|c.504C>A|p.Asp168Glu|759/10129|504/7098|168/2365||,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|12/28|n.*840C>A|||||24474|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|12/28|n.*840C>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|4/5|n.438C>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|4/22|n.302C>A|||||| 22 38111897 . C T . . ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|6/24|c.584C>T|p.Thr195Ile|839/10129|584/7098|195/2365||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|12/28|n.*920C>T|||||24554|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|4/22|n.*67C>T|||||67|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|12/28|n.*920C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|4/5|n.518C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|4/22|n.*67C>T|||||| 22 38119166 . C T . . ANN=T|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|6/23|c.629-26C>T||||||,T|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|12/27|n.*965-26C>T||||||,T|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|4/4|n.563-26C>T||||||,T|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|4/21|n.*112-26C>T|||||| 22 38119213 . G A . . ANN=A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.650G>A|p.Ser217Asn|905/10129|650/7098|217/2365||,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*986G>A|||||31870|,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*133G>A|||||7383|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*986G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.584G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*133G>A|||||| 22 38119214 . C T . . ANN=T|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.651C>T|p.Ser217Ser|906/10129|651/7098|217/2365||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*987C>T|||||31871|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*134C>T|||||7384|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*987C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.585C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*134C>T|||||| 22 38119239 . C T . . ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.676C>T|p.Arg226Trp|931/10129|676/7098|226/2365||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*1012C>T|||||31896|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*159C>T|||||7409|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*1012C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.610C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*159C>T|||||| 22 38119272 . C T . . ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.709C>T|p.Arg237Trp|964/10129|709/7098|237/2365||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*1045C>T|||||31929|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*192C>T|||||7442|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*1045C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.643C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*192C>T|||||| 22 38119330 . C T . . ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.767C>T|p.Thr256Met|1022/10129|767/7098|256/2365||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*1103C>T|||||31987|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*250C>T|||||7500|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*1103C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.701C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*250C>T|||||| 22 38119378 . C A . . ANN=A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.815C>A|p.Thr272Lys|1070/10129|815/7098|272/2365||,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*1151C>A|||||32035|,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*298C>A|||||7548|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*1151C>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.749C>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*298C>A|||||| 22 38119476 . A C . . ANN=C|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.913A>C|p.Thr305Pro|1168/10129|913/7098|305/2365||,C|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*1249A>C|||||32133|,C|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*396A>C|||||7646|,C|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*1249A>C||||||,C|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.847A>C||||||,C|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*396A>C|||||| 22 38119514 . G T . . ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.951G>T|p.Glu317Asp|1206/10129|951/7098|317/2365||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*1287G>T|||||32171|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*434G>T|||||7684|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*1287G>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.885G>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*434G>T|||||| 22 38119527 . G T . . ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.964G>T|p.Ala322Ser|1219/10129|964/7098|322/2365||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*1300G>T|||||32184|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*447G>T|||||7697|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*1300G>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.898G>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*447G>T|||||| 22 38119545 . G A . . ANN=A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.982G>A|p.Asp328Asn|1237/10129|982/7098|328/2365||,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*1318G>A|||||32202|,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*465G>A|||||7715|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*1318G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.916G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*465G>A|||||| 22 38119695 . C T . . ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.1132C>T|p.Pro378Ser|1387/10129|1132/7098|378/2365||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*1468C>T|||||32352|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*615C>T|||||7865|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*1468C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.1066C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*615C>T|||||| 22 38119721 . C T . . ANN=T|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.1158C>T|p.Asp386Asp|1413/10129|1158/7098|386/2365||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*1494C>T|||||32378|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*641C>T|||||7891|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*1494C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.1092C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*641C>T|||||| 22 38119753 . CTCA C . . ANN=|disruptive_inframe_deletion|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.1191_1193delTCA|p.Gln398del|1446/10129|1191/7098|397/2365||,|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*1527_*1529delTCA|||||32411|,|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*674_*676delTCA|||||7924|,|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*1527_*1529delTCA||||||,|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.1125_1127delTCA||||||,|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*674_*676delTCA|||||| 22 38119754 . TCAA T . . ANN=|disruptive_inframe_deletion|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.1193_1195delAAC|p.Gln398del|1448/10129|1193/7098|398/2365||INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*1529_*1531delAAC|||||32413|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*676_*678delAAC|||||7926|INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*1529_*1531delAAC||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.1127_1129delAAC||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*676_*678delAAC||||||INFO_REALIGN_3_PRIME 22 38120175 . GCCT G . . ANN=|disruptive_inframe_deletion|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.1617_1619delCTC|p.Ser540del|1872/10129|1617/7098|539/2365||INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*1953_*1955delCTC|||||32837|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*1100_*1102delCTC|||||8350|INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*1953_*1955delCTC||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.1551_1553delCTC||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*1100_*1102delCTC||||||INFO_REALIGN_3_PRIME 22 38120542 . C T . . ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.1979C>T|p.Ala660Val|2234/10129|1979/7098|660/2365||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*2315C>T|||||33199|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*1462C>T|||||8712|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*2315C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.1913C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*1462C>T|||||| 22 38120688 . T G . . ANN=G|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.2125T>G|p.Ser709Ala|2380/10129|2125/7098|709/2365||,G|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*2461T>G|||||33345|,G|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*1608T>G|||||8858|,G|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*2461T>G||||||,G|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.2059T>G||||||,G|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*1608T>G|||||| 22 38120712 . C G . . ANN=G|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.2149C>G|p.Gln717Glu|2404/10129|2149/7098|717/2365||,G|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*2485C>G|||||33369|,G|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*1632C>G|||||8882|,G|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*2485C>G||||||,G|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.2083C>G||||||,G|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*1632C>G|||||| 22 38120740 . G A . . ANN=A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.2177G>A|p.Arg726Gln|2432/10129|2177/7098|726/2365||,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*2513G>A|||||33397|,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*1660G>A|||||8910|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*2513G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.2111G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*1660G>A|||||| 22 38120797 . G A . . ANN=A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.2234G>A|p.Arg745Lys|2489/10129|2234/7098|745/2365||,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*2570G>A|||||33454|,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*1717G>A|||||8967|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*2570G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.2168G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*1717G>A|||||| 22 38120834 . C G . . ANN=G|sequence_feature|MODERATE|TRIOBP|ENSG00000100106|amino_acid_modification:Phosphoserine|ENST00000406386|protein_coding|7/24|c.2271C>G||||||,G|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.2271C>G|p.Ser757Ser|2526/10129|2271/7098|757/2365||,G|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*2607C>G|||||33491|,G|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*1754C>G|||||9004|,G|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*2607C>G||||||,G|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.2205C>G||||||,G|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*1754C>G|||||| 22 38120955 . C T . . ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.2392C>T|p.Arg798Trp|2647/10129|2392/7098|798/2365||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*2728C>T|||||33612|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*1875C>T|||||9125|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*2728C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.2326C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*1875C>T|||||| 22 38120956 . G A . . ANN=A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.2393G>A|p.Arg798Gln|2648/10129|2393/7098|798/2365||,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*2729G>A|||||33613|,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*1876G>A|||||9126|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*2729G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.2327G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*1876G>A|||||| 22 38120995 . A G . . ANN=G|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.2432A>G|p.Gln811Arg|2687/10129|2432/7098|811/2365||,G|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*2768A>G|||||33652|,G|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*1915A>G|||||9165|,G|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*2768A>G||||||,G|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.2366A>G||||||,G|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*1915A>G|||||| 22 38121013 . C G . . ANN=G|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.2450C>G|p.Thr817Ser|2705/10129|2450/7098|817/2365||,G|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*2786C>G|||||33670|,G|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*1933C>G|||||9183|,G|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*2786C>G||||||,G|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.2384C>G||||||,G|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*1933C>G|||||| 22 38121017 . T C . . ANN=C|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.2454T>C|p.Cys818Cys|2709/10129|2454/7098|818/2365||,C|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*2790T>C|||||33674|,C|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*1937T>C|||||9187|,C|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*2790T>C||||||,C|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.2388T>C||||||,C|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*1937T>C|||||| 22 38121040 . C T . . ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.2477C>T|p.Ser826Leu|2732/10129|2477/7098|826/2365||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*2813C>T|||||33697|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*1960C>T|||||9210|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*2813C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.2411C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*1960C>T|||||| 22 38121152 . C A . . ANN=A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.2589C>A|p.Asn863Lys|2844/10129|2589/7098|863/2365||,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*2925C>A|||||33809|,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*2072C>A|||||9322|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*2925C>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.2523C>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*2072C>A|||||| 22 38121173 . A G . . ANN=G|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.2610A>G|p.Gln870Gln|2865/10129|2610/7098|870/2365||,G|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*2946A>G|||||33830|,G|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*2093A>G|||||9343|,G|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*2946A>G||||||,G|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.2544A>G||||||,G|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*2093A>G|||||| 22 38121227 . A G . . ANN=G|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.2664A>G|p.Gln888Gln|2919/10129|2664/7098|888/2365||,G|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3000A>G|||||33884|,G|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*2147A>G|||||9397|,G|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3000A>G||||||,G|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.2598A>G||||||,G|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*2147A>G|||||| 22 38121258 . C G . . ANN=G|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.2695C>G|p.Arg899Gly|2950/10129|2695/7098|899/2365||,G|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3031C>G|||||33915|,G|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*2178C>G|||||9428|,G|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3031C>G||||||,G|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.2629C>G||||||,G|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*2178C>G|||||| 22 38121287 . G A . . ANN=A|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.2724G>A|p.Ser908Ser|2979/10129|2724/7098|908/2365||,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3060G>A|||||33944|,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*2207G>A|||||9457|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3060G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.2658G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*2207G>A|||||| 22 38121374 . C T . . ANN=T|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.2811C>T|p.Ile937Ile|3066/10129|2811/7098|937/2365||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3147C>T|||||34031|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*2294C>T|||||9544|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3147C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.2745C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*2294C>T|||||| 22 38121486 . C T . . ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.2923C>T|p.Arg975Trp|3178/10129|2923/7098|975/2365||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3259C>T|||||34143|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*2406C>T|||||9656|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3259C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.2857C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*2406C>T|||||| 22 38121502 . C T . . ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.2939C>T|p.Ser980Phe|3194/10129|2939/7098|980/2365||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3275C>T|||||34159|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*2422C>T|||||9672|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3275C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.2873C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*2422C>T|||||| 22 38121555 . G A . . ANN=A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.2992G>A|p.Ala998Thr|3247/10129|2992/7098|998/2365||,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3328G>A|||||34212|,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*2475G>A|||||9725|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3328G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.2926G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*2475G>A|||||| 22 38121631 . C T . . ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.3068C>T|p.Ala1023Val|3323/10129|3068/7098|1023/2365||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3404C>T|||||34288|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*2551C>T|||||9801|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3404C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.3002C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*2551C>T|||||| 22 38121652 . C G . . ANN=G|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.3089C>G|p.Pro1030Arg|3344/10129|3089/7098|1030/2365||,G|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3425C>G|||||34309|,G|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*2572C>G|||||9822|,G|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3425C>G||||||,G|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.3023C>G||||||,G|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*2572C>G|||||| 22 38121696 . C T . . ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.3133C>T|p.Arg1045Cys|3388/10129|3133/7098|1045/2365||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3469C>T|||||34353|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*2616C>T|||||9866|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3469C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.3067C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*2616C>T|||||| 22 38121725 . C T . . ANN=T|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.3162C>T|p.His1054His|3417/10129|3162/7098|1054/2365||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3498C>T|||||34382|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*2645C>T|||||9895|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3498C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.3096C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*2645C>T|||||| 22 38121795 . C T . . ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.3232C>T|p.Arg1078Cys|3487/10129|3232/7098|1078/2365||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3568C>T|||||34452|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*2715C>T|||||9965|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3568C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.3166C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*2715C>T|||||| 22 38121806 . A G . . ANN=G|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.3243A>G|p.Gln1081Gln|3498/10129|3243/7098|1081/2365||,G|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3579A>G|||||34463|,G|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*2726A>G|||||9976|,G|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3579A>G||||||,G|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.3177A>G||||||,G|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*2726A>G|||||| 22 38121932 . C T . . ANN=T|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.3369C>T|p.Ser1123Ser|3624/10129|3369/7098|1123/2365||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3705C>T|||||34589|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*2852C>T|||||10102|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3705C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.3303C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*2852C>T|||||| 22 38122028 . C T . . ANN=T|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.3465C>T|p.His1155His|3720/10129|3465/7098|1155/2365||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3801C>T|||||34685|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*2948C>T|||||10198|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3801C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.3399C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*2948C>T|||||| 22 38122122 . T C . . ANN=C|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.3559T>C|p.Phe1187Leu|3814/10129|3559/7098|1187/2365||,C|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3895T>C|||||34779|,C|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*3042T>C|||||10292|,C|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3895T>C||||||,C|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.3493T>C||||||,C|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*3042T>C|||||| 22 38122170 . A G . . ANN=G|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.3607A>G|p.Thr1203Ala|3862/10129|3607/7098|1203/2365||,G|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3943A>G|||||34827|,G|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*3090A>G|||||10340|,G|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3943A>G||||||,G|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.3541A>G||||||,G|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*3090A>G|||||| 22 38122198 . T A . . ANN=A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.3635T>A|p.Leu1212Gln|3890/10129|3635/7098|1212/2365||,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3971T>A|||||34855|,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*3118T>A|||||10368|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3971T>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.3569T>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*3118T>A|||||| 22 38122252 . C T . . ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.3689C>T|p.Pro1230Leu|3944/10129|3689/7098|1230/2365||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*4025C>T|||||34909|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*3172C>T|||||10422|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*4025C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.3623C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*3172C>T|||||| 22 38122362 . C A . . ANN=A|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.3799C>A|p.Arg1267Arg|4054/10129|3799/7098|1267/2365||,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*4135C>A|||||35019|,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*3282C>A|||||10532|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*4135C>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.3733C>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*3282C>A|||||| 22 38122448 . C T . . ANN=T|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.3885C>T|p.Ser1295Ser|4140/10129|3885/7098|1295/2365||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*4221C>T|||||35105|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*3368C>T|||||10618|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*4221C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.3819C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*3368C>T|||||| 22 38122462 . A G . . ANN=G|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.3899A>G|p.His1300Arg|4154/10129|3899/7098|1300/2365||,G|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*4235A>G|||||35119|,G|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*3382A>G|||||10632|,G|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*4235A>G||||||,G|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.3833A>G||||||,G|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*3382A>G|||||| 22 38129332 . G A . . ANN=A|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|8/24|c.3975G>A|p.Gln1325Gln|4230/10129|3975/7098|1325/2365||,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|6/22|n.*3458G>A|||||17502|,A|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/27|n.*4284-1074G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|6/22|n.*3458G>A|||||| 22 38130375 . A C . . ANN=C|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|8/23|c.4063-31A>C||||||,C|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/27|n.*4284-31A>C||||||,C|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|6/21|n.*3546-31A>C|||||| 22 38130385 . A C . . ANN=C|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|8/23|c.4063-21A>C||||||,C|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/27|n.*4284-21A>C||||||,C|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|6/21|n.*3546-21A>C|||||| 22 38130420 . T C . . ANN=C|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|9/24|c.4077T>C|p.Pro1359Pro|4332/10129|4077/7098|1359/2365||,C|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*4298T>C|||||43077|,C|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*3560T>C|||||18590|,C|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*4298T>C||||||,C|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*3560T>C|||||| 22 38130442 . C T . . ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|9/24|c.4099C>T|p.Arg1367Trp|4354/10129|4099/7098|1367/2365||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*4320C>T|||||43099|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*3582C>T|||||18612|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*4320C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*3582C>T|||||| 22 38130446 . G A . . ANN=A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|9/24|c.4103G>A|p.Arg1368Gln|4358/10129|4103/7098|1368/2365||,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*4324G>A|||||43103|,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*3586G>A|||||18616|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*4324G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*3586G>A|||||| 22 38130459 . G T . . ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|9/24|c.4116G>T|p.Glu1372Asp|4371/10129|4116/7098|1372/2365||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*4337G>T|||||43116|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*3599G>T|||||18629|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*4337G>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*3599G>T|||||| 22 38130472 . T C . . ANN=C|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|9/24|c.4129T>C|p.Trp1377Arg|4384/10129|4129/7098|1377/2365||,C|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*4350T>C|||||43129|,C|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*3612T>C|||||18642|,C|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*4350T>C||||||,C|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*3612T>C|||||| 22 38130508 . C A . . ANN=A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|9/24|c.4165C>A|p.Leu1389Ile|4420/10129|4165/7098|1389/2365||,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*4386C>A|||||43165|,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*3648C>A|||||18678|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*4386C>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*3648C>A|||||| 22 38130521 . C T . . ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|9/24|c.4178C>T|p.Pro1393Leu|4433/10129|4178/7098|1393/2365||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*4399C>T|||||43178|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*3661C>T|||||18691|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*4399C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*3661C>T|||||| 22 38130597 . A G . . ANN=G|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|9/24|c.4254A>G|p.Ala1418Ala|4509/10129|4254/7098|1418/2365||,G|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*4475A>G|||||43254|,G|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*3737A>G|||||18767|,G|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*4475A>G||||||,G|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*3737A>G|||||| 22 38130642 . G A . . ANN=A|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|9/24|c.4299G>A|p.Pro1433Pro|4554/10129|4299/7098|1433/2365||,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*4520G>A|||||43299|,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*3782G>A|||||18812|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*4520G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*3782G>A|||||| 22 38130676 . A G . . ANN=G|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|9/24|c.4333A>G|p.Arg1445Gly|4588/10129|4333/7098|1445/2365||,G|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*4554A>G|||||43333|,G|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*3816A>G|||||18846|,G|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*4554A>G||||||,G|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*3816A>G|||||| 22 38130827 . A T . . ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|9/24|c.4484A>T|p.Glu1495Val|4739/10129|4484/7098|1495/2365||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*4705A>T|||||43484|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*3967A>T|||||18997|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*4705A>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*3967A>T|||||| 22 38130910 . G A . . ANN=A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|9/24|c.4567G>A|p.Ala1523Thr|4822/10129|4567/7098|1523/2365||,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*4788G>A|||||43567|,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*4050G>A|||||19080|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*4788G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*4050G>A|||||| 22 38130986 . C T . . ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|9/24|c.4643C>T|p.Pro1548Leu|4898/10129|4643/7098|1548/2365||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*4864C>T|||||43643|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*4126C>T|||||19156|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*4864C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*4126C>T|||||| 22 38131043 . G A . . ANN=A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|9/24|c.4700G>A|p.Arg1567Gln|4955/10129|4700/7098|1567/2365||,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*4921G>A|||||43700|,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*4183G>A|||||19213|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*4921G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*4183G>A|||||| 22 38131071 . T C . . ANN=C|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|9/24|c.4728T>C|p.Arg1576Arg|4983/10129|4728/7098|1576/2365||,C|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*4949T>C|||||43728|,C|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*4211T>C|||||19241|,C|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*4949T>C||||||,C|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*4211T>C|||||| 22 38131275 . C T . . ANN=T|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|9/24|c.4932C>T|p.Pro1644Pro|5187/10129|4932/7098|1644/2365||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*5153C>T|||||43932|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*4415C>T|||||19445|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*5153C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*4415C>T|||||| 22 38131373 . C T . . ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|9/24|c.5030C>T|p.Thr1677Ile|5285/10129|5030/7098|1677/2365||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*5251C>T|||||44030|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*4513C>T|||||19543|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*5251C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*4513C>T|||||| 22 38131395 . G T . . ANN=T|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|9/24|c.5052G>T|p.Thr1684Thr|5307/10129|5052/7098|1684/2365||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*5273G>T|||||44052|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*4535G>T|||||19565|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*5273G>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*4535G>T|||||| 22 38131401 . C G . . ANN=G|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|9/24|c.5058C>G|p.Pro1686Pro|5313/10129|5058/7098|1686/2365||,G|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*5279C>G|||||44058|,G|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*4541C>G|||||19571|,G|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*5279C>G||||||,G|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*4541C>G|||||| 22 38136941 . C T . . ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|11/24|c.5224C>T|p.Leu1742Phe|5479/10129|5224/7098|1742/2365||,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|9/22|n.*4707C>T|||||25111|,T|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|15/27|n.*5405+2215C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|9/22|n.*4707C>T|||||| 22 38137087 . G A . . ANN=A|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|11/23|c.5322+48G>A||||||,A|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|15/27|n.*5405+2361G>A||||||,A|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|9/21|n.*4805+48G>A|||||| 22 38142199 . G T . . ANN=T|upstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000407319|protein_coding||c.-11G>T|||||36|,T|upstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding||c.-6G>T|||||41|,T|upstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000428075|protein_coding||c.-2G>T|||||78|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000413051|nonsense_mediated_decay||n.-1G>T|||||130|,T|upstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000418339|protein_coding||c.-145G>T|||||4805|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|11/23|c.5322+5160G>T||||||,T|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|15/27|n.*5406-5580G>T||||||,T|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|9/21|n.*4805+5160G>T|||||| 22 38142222 . GA G,GAAA,GAAAA . . ANN=|5_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000407319|protein_coding|1/8|c.-6delA|||||6|INFO_REALIGN_3_PRIME,AA|5_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000407319|protein_coding|1/8|c.-7_-6dupAA|||||5|INFO_REALIGN_3_PRIME,AAA|5_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000407319|protein_coding|1/8|c.-8_-6dupAAA|||||5|INFO_REALIGN_3_PRIME,AA|5_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|1/14|c.-6_-6dupAA|||||5|INFO_REALIGN_3_PRIME,AAA|5_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|1/14|c.-6_-6dupAAA|||||5|INFO_REALIGN_3_PRIME,|upstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000407319|protein_coding||c.-11delA|||||12|,AA|upstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000407319|protein_coding||c.-11_-11insAA|||||11|,AAA|upstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000407319|protein_coding||c.-11_-11insAAA|||||11|,|upstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding||c.-6delA|||||17|,AA|upstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding||c.-6_-6insAA|||||16|,AAA|upstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding||c.-6_-6insAAA|||||16|,|upstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000428075|protein_coding||c.-2delA|||||54|WARNING_TRANSCRIPT_NO_START_CODON,AA|upstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000428075|protein_coding||c.-2_-2insAA|||||53|WARNING_TRANSCRIPT_NO_START_CODON,AAA|upstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000428075|protein_coding||c.-2_-2insAAA|||||53|WARNING_TRANSCRIPT_NO_START_CODON,|upstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000413051|nonsense_mediated_decay||n.-1delA|||||106|,AA|upstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000413051|nonsense_mediated_decay||n.-1_-1insAA|||||105|,AAA|upstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000413051|nonsense_mediated_decay||n.-1_-1insAAA|||||105|,|upstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000418339|protein_coding||c.-145delA|||||4781|WARNING_TRANSCRIPT_NO_STOP_CODON,AA|upstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000418339|protein_coding||c.-145_-145insAA|||||4780|WARNING_TRANSCRIPT_NO_STOP_CODON,AAA|upstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000418339|protein_coding||c.-145_-145insAAA|||||4780|WARNING_TRANSCRIPT_NO_STOP_CODON,|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|11/23|c.5322+5200delA||||||INFO_REALIGN_3_PRIME,AA|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|11/23|c.5322+5199_5322+5200dupAA||||||INFO_REALIGN_3_PRIME,AAA|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|11/23|c.5322+5198_5322+5200dupAAA||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|15/27|n.*5406-5540delA||||||INFO_REALIGN_3_PRIME,AA|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|15/27|n.*5406-5541_*5406-5540dupAA||||||INFO_REALIGN_3_PRIME,AAA|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|15/27|n.*5406-5542_*5406-5540dupAAA||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|9/21|n.*4805+5200delA||||||INFO_REALIGN_3_PRIME,AA|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|9/21|n.*4805+5199_*4805+5200dupAA||||||INFO_REALIGN_3_PRIME,AAA|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|9/21|n.*4805+5198_*4805+5200dupAAA||||||INFO_REALIGN_3_PRIME 22 38142235 . A AAAG . . ANN=GAA|5_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000407319|protein_coding|1/8|c.-8_-7insGAA|||||7|INFO_REALIGN_3_PRIME,AAG|upstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding||c.-6_-6insAAG|||||4|,AAG|upstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000428075|protein_coding||c.-2_-2insAAG|||||41|WARNING_TRANSCRIPT_NO_START_CODON,AAG|upstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000413051|nonsense_mediated_decay||n.-1_-1insAAG|||||93|,AAG|upstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000418339|protein_coding||c.-145_-145insAAG|||||4768|WARNING_TRANSCRIPT_NO_STOP_CODON,GAA|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|11/23|c.5322+5198_5322+5199insGAA||||||INFO_REALIGN_3_PRIME,GAA|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|15/27|n.*5406-5542_*5406-5541insGAA||||||INFO_REALIGN_3_PRIME,GAA|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|9/21|n.*4805+5198_*4805+5199insGAA||||||INFO_REALIGN_3_PRIME 22 38142468 . A G . . ANN=G|upstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000418339|protein_coding||c.-145A>G|||||4536|WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000452519|protein_coding||c.-337A>G|||||4924|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000417857|protein_coding||c.-150A>G|||||4937|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|11/23|c.5323-5311A>G||||||,G|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|15/27|n.*5406-5311A>G||||||,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|9/21|n.*4806-5311A>G||||||,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000407319|protein_coding|1/7|c.183+41A>G||||||,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|1/13|c.183+41A>G||||||,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000428075|protein_coding|1/4|c.150+41A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000413051|nonsense_mediated_decay|1/6|n.99+41A>G|||||| 22 38147805 . A T . . ANN=T|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|12/24|c.5349A>T|p.Gly1783Gly|5604/10129|5349/7098|1783/2365||,T|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000407319|protein_coding|2/8|c.210A>T|p.Gly70Gly|220/2125|210/1296|70/431||,T|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|2/14|c.210A>T|p.Gly70Gly|215/2324|210/1959|70/652||,T|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000428075|protein_coding|2/5|c.177A>T|p.Gly59Gly|178/931|177/930|59/309||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000418339|protein_coding|2/6|c.87A>T|p.Gly29Gly|231/939|87/795|29/264||WARNING_TRANSCRIPT_NO_STOP_CODON,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000452519|protein_coding|2/5|c.-4A>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000417857|protein_coding|2/6|c.-4A>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|15/24|c.5349A>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|13/24|c.5349A>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|12/24|c.5349A>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|14/24|c.5349A>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|5/8|c.210A>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|3/8|c.210A>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|2/8|c.210A>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|4/8|c.210A>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|5/14|c.210A>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|3/14|c.210A>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|2/14|c.210A>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|4/14|c.210A>T||||||,T|5_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000452519|protein_coding|2/5|c.-4A>T|||||4|WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000417857|protein_coding|2/6|c.-4A>T|||||4|WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|16/28|n.*5432A>T|||||60462|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|10/22|n.*4832A>T|||||35975|,T|upstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000331103|retained_intron||n.-1A>T|||||3084|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|16/28|n.*5432A>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|10/22|n.*4832A>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000413051|nonsense_mediated_decay|3/7|n.215A>T|||||| 22 38150836 . A G . . ANN=G|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|15/24|c.5380-48A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|13/24|c.5380-48A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|12/24|c.5380-48A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|14/24|c.5380-48A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|5/8|c.241-48A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|3/8|c.241-48A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|2/8|c.241-48A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|4/8|c.241-48A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|5/14|c.241-48A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|3/14|c.241-48A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|2/14|c.241-48A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|4/14|c.241-48A>G||||||,G|upstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000331103|retained_intron||n.-1A>G|||||53|,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|12/23|c.5380-48A>G||||||,G|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|16/27|n.*5463-87A>G||||||,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|10/21|n.*4863-48A>G||||||,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000407319|protein_coding|2/7|c.241-48A>G||||||,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|2/13|c.241-48A>G||||||,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000428075|protein_coding|2/4|c.208-272A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000413051|nonsense_mediated_decay|3/6|n.246-48A>G||||||,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000418339|protein_coding|2/5|c.118-48A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000452519|protein_coding|2/4|c.28-48A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000417857|protein_coding|2/5|c.28-48A>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 38150870 . C T . . ANN=T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|15/24|c.5380-14C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|13/24|c.5380-14C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|12/24|c.5380-14C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|14/24|c.5380-14C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|5/8|c.241-14C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|3/8|c.241-14C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|2/8|c.241-14C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|4/8|c.241-14C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|5/14|c.241-14C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|3/14|c.241-14C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|2/14|c.241-14C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|4/14|c.241-14C>T||||||,T|upstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000331103|retained_intron||n.-1C>T|||||19|,T|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|12/23|c.5380-14C>T||||||,T|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|16/27|n.*5463-53C>T||||||,T|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|10/21|n.*4863-14C>T||||||,T|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000407319|protein_coding|2/7|c.241-14C>T||||||,T|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|2/13|c.241-14C>T||||||,T|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000428075|protein_coding|2/4|c.208-238C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000413051|nonsense_mediated_decay|3/6|n.246-14C>T||||||,T|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000418339|protein_coding|2/5|c.118-14C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000452519|protein_coding|2/4|c.28-14C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000417857|protein_coding|2/5|c.28-14C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 38150871 . A G . . ANN=G|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|15/24|c.5380-13A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|13/24|c.5380-13A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|12/24|c.5380-13A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|14/24|c.5380-13A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|5/8|c.241-13A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|3/8|c.241-13A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|2/8|c.241-13A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|4/8|c.241-13A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|5/14|c.241-13A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|3/14|c.241-13A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|2/14|c.241-13A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|4/14|c.241-13A>G||||||,G|upstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000331103|retained_intron||n.-1A>G|||||18|,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|12/23|c.5380-13A>G||||||,G|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|16/27|n.*5463-52A>G||||||,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|10/21|n.*4863-13A>G||||||,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000407319|protein_coding|2/7|c.241-13A>G||||||,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|2/13|c.241-13A>G||||||,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000428075|protein_coding|2/4|c.208-237A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000413051|nonsense_mediated_decay|3/6|n.246-13A>G||||||,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000418339|protein_coding|2/5|c.118-13A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000452519|protein_coding|2/4|c.28-13A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000417857|protein_coding|2/5|c.28-13A>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 38150875 . T A . . ANN=A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|15/24|c.5380-9T>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|13/24|c.5380-9T>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|12/24|c.5380-9T>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|14/24|c.5380-9T>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|5/8|c.241-9T>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|3/8|c.241-9T>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|2/8|c.241-9T>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|4/8|c.241-9T>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|5/14|c.241-9T>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|3/14|c.241-9T>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|2/14|c.241-9T>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|4/14|c.241-9T>A||||||,A|upstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000331103|retained_intron||n.-1T>A|||||14|,A|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|12/23|c.5380-9T>A||||||,A|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|16/27|n.*5463-48T>A||||||,A|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|10/21|n.*4863-9T>A||||||,A|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000407319|protein_coding|2/7|c.241-9T>A||||||,A|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|2/13|c.241-9T>A||||||,A|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000428075|protein_coding|2/4|c.208-233T>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000413051|nonsense_mediated_decay|3/6|n.246-9T>A||||||,A|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000418339|protein_coding|2/5|c.118-9T>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000452519|protein_coding|2/4|c.28-9T>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000417857|protein_coding|2/5|c.28-9T>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 38150908 . A T . . ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|13/24|c.5404A>T|p.Thr1802Ser|5659/10129|5404/7098|1802/2365||,T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000407319|protein_coding|3/8|c.265A>T|p.Thr89Ser|275/2125|265/1296|89/431||,T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|3/14|c.265A>T|p.Thr89Ser|270/2324|265/1959|89/652||,T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000418339|protein_coding|3/6|c.142A>T|p.Thr48Ser|286/939|142/795|48/264||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000452519|protein_coding|3/5|c.52A>T|p.Thr18Ser|388/586|52/250|18/82||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000417857|protein_coding|3/6|c.52A>T|p.Thr18Ser|201/919|52/770|18/255||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|15/24|c.5404A>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|13/24|c.5404A>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|12/24|c.5404A>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|14/24|c.5404A>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|5/8|c.265A>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|3/8|c.265A>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|2/8|c.265A>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|4/8|c.265A>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|5/14|c.265A>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|3/14|c.265A>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|2/14|c.265A>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|4/14|c.265A>T||||||,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|11/22|n.*4887A>T|||||39078|,T|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|16/27|n.*5463-15A>T||||||,T|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000428075|protein_coding|2/4|c.208-200A>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|11/22|n.*4887A>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000413051|nonsense_mediated_decay|4/7|n.270A>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000331103|retained_intron|1/2|n.20A>T|||||| 22 38151000 . A G . . ANN=G|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|15/24|c.5487+9A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|13/24|c.5487+9A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|12/24|c.5487+9A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|14/24|c.5487+9A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|5/8|c.348+9A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|3/8|c.348+9A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|2/8|c.348+9A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|4/8|c.348+9A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|5/14|c.348+9A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|3/14|c.348+9A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|2/14|c.348+9A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|4/14|c.348+9A>G||||||,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|13/23|c.5487+9A>G||||||,G|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|17/27|n.*5531+9A>G||||||,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|11/21|n.*4970+9A>G||||||,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000407319|protein_coding|3/7|c.348+9A>G||||||,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|3/13|c.348+9A>G||||||,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000428075|protein_coding|2/4|c.208-108A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000413051|nonsense_mediated_decay|4/6|n.*44+9A>G||||||,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000418339|protein_coding|3/5|c.225+9A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000452519|protein_coding|3/4|c.135+9A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000417857|protein_coding|3/5|c.135+9A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000331103|retained_intron|1/1|n.103+9A>G|||||| 22 38151100 . TG T . . ANN=|splice_region_variant&intron_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|13/23|c.5488-7delG||||||,|splice_region_variant&intron_variant|LOW|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|17/27|n.*5532-7delG||||||,|splice_region_variant&intron_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|11/21|n.*4971-7delG||||||,|splice_region_variant&intron_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000407319|protein_coding|3/7|c.349-7delG||||||,|splice_region_variant&intron_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|3/13|c.349-7delG||||||,|splice_region_variant&intron_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000428075|protein_coding|2/4|c.208-7delG||||||WARNING_TRANSCRIPT_NO_START_CODON,|splice_region_variant&intron_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000413051|nonsense_mediated_decay|4/6|n.*45-7delG||||||,|splice_region_variant&intron_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000418339|protein_coding|3/5|c.226-7delG||||||WARNING_TRANSCRIPT_NO_STOP_CODON,|splice_region_variant&intron_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000452519|protein_coding|3/4|c.136-7delG||||||WARNING_TRANSCRIPT_INCOMPLETE,|splice_region_variant&intron_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000417857|protein_coding|3/5|c.136-7delG||||||WARNING_TRANSCRIPT_INCOMPLETE,|splice_region_variant&intron_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000331103|retained_intron|1/1|n.104-7delG||||||,|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|15/24|c.5488-7delG||||||,|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|13/24|c.5488-7delG||||||,|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|12/24|c.5488-7delG||||||,|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|14/24|c.5488-7delG||||||,|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|5/8|c.349-7delG||||||,|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|3/8|c.349-7delG||||||,|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|2/8|c.349-7delG||||||,|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|4/8|c.349-7delG||||||,|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|5/14|c.349-7delG||||||,|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|3/14|c.349-7delG||||||,|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|2/14|c.349-7delG||||||,|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|4/14|c.349-7delG|||||| 22 38151170 . G A . . ANN=A|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|14/24|c.5550G>A|p.Val1850Val|5805/10129|5550/7098|1850/2365||,A|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000407319|protein_coding|4/8|c.411G>A|p.Val137Val|421/2125|411/1296|137/431||,A|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|4/14|c.411G>A|p.Val137Val|416/2324|411/1959|137/652||,A|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000428075|protein_coding|3/5|c.270G>A|p.Val90Val|271/931|270/930|90/309||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000418339|protein_coding|4/6|c.288G>A|p.Val96Val|432/939|288/795|96/264||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000452519|protein_coding|4/5|c.198G>A|p.Val66Val|534/586|198/250|66/82||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000417857|protein_coding|4/6|c.198G>A|p.Val66Val|347/919|198/770|66/255||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|15/24|c.5550G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|13/24|c.5550G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|12/24|c.5550G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|14/24|c.5550G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|5/8|c.411G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|3/8|c.411G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|2/8|c.411G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|4/8|c.411G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|5/14|c.411G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|3/14|c.411G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|2/14|c.411G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|4/14|c.411G>A||||||,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|18/28|n.*5594G>A|||||63827|,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|12/22|n.*5033G>A|||||39340|,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000413051|nonsense_mediated_decay|5/7|n.*107G>A|||||223|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|18/28|n.*5594G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|12/22|n.*5033G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000413051|nonsense_mediated_decay|5/7|n.*107G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000331103|retained_intron|2/2|n.166G>A|||||| 22 38151516 . G A . . ANN=A|splice_region_variant&non_coding_exon_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000331103|retained_intron|2/2|n.512G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|15/24|c.5578-41G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|13/24|c.5578-41G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|12/24|c.5578-41G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|14/24|c.5578-41G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|5/8|c.439-41G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|3/8|c.439-41G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|2/8|c.439-41G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|4/8|c.439-41G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|5/14|c.439-41G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|3/14|c.439-41G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|2/14|c.439-41G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|4/14|c.439-41G>A||||||,A|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|14/23|c.5578-41G>A||||||,A|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|18/27|n.*5622-41G>A||||||,A|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|12/21|n.*5061-41G>A||||||,A|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000407319|protein_coding|4/7|c.439-41G>A||||||,A|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|4/13|c.439-41G>A||||||,A|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000428075|protein_coding|3/4|c.298-41G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000413051|nonsense_mediated_decay|5/6|n.*135-41G>A||||||,A|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000418339|protein_coding|4/5|c.316-41G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000452519|protein_coding|4/4|c.226-41G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000417857|protein_coding|4/5|c.226-41G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 38151567 . C T . . ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|15/24|c.5588C>T|p.Ala1863Val|5843/10129|5588/7098|1863/2365||,T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000407319|protein_coding|5/8|c.449C>T|p.Ala150Val|459/2125|449/1296|150/431||,T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|5/14|c.449C>T|p.Ala150Val|454/2324|449/1959|150/652||,T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000428075|protein_coding|4/5|c.308C>T|p.Ala103Val|309/931|308/930|103/309||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000418339|protein_coding|5/6|c.326C>T|p.Ala109Val|470/939|326/795|109/264||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000452519|protein_coding|5/5|c.236C>T|p.Ala79Val|572/586|236/250|79/82||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000417857|protein_coding|5/6|c.236C>T|p.Ala79Val|385/919|236/770|79/255||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|15/24|c.5588C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|13/24|c.5588C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|12/24|c.5588C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|14/24|c.5588C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|5/8|c.449C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|3/8|c.449C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|2/8|c.449C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|4/8|c.449C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|5/14|c.449C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|3/14|c.449C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|2/14|c.449C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|4/14|c.449C>T||||||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|19/28|n.*5632C>T|||||64224|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|13/22|n.*5071C>T|||||39737|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000413051|nonsense_mediated_decay|6/7|n.*145C>T|||||620|,T|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000331103|retained_intron||n.*513C>T|||||50|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|19/28|n.*5632C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|13/22|n.*5071C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000413051|nonsense_mediated_decay|6/7|n.*145C>T|||||| 22 38151606 . G A . . ANN=A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|15/24|c.5627G>A|p.Arg1876Gln|5882/10129|5627/7098|1876/2365||,A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000407319|protein_coding|5/8|c.488G>A|p.Arg163Gln|498/2125|488/1296|163/431||,A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|5/14|c.488G>A|p.Arg163Gln|493/2324|488/1959|163/652||,A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000428075|protein_coding|4/5|c.347G>A|p.Arg116Gln|348/931|347/930|116/309||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000418339|protein_coding|5/6|c.365G>A|p.Arg122Gln|509/939|365/795|122/264||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000417857|protein_coding|5/6|c.275G>A|p.Arg92Gln|424/919|275/770|92/255||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|15/24|c.5627G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|13/24|c.5627G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|12/24|c.5627G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|14/24|c.5627G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|5/8|c.488G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|3/8|c.488G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|2/8|c.488G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|4/8|c.488G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|5/14|c.488G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|3/14|c.488G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|2/14|c.488G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|4/14|c.488G>A||||||,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|19/28|n.*5671G>A|||||64263|,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|13/22|n.*5110G>A|||||39776|,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000413051|nonsense_mediated_decay|6/7|n.*184G>A|||||659|,A|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000452519|protein_coding||c.*586G>A|||||25|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000331103|retained_intron||n.*513G>A|||||89|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|19/28|n.*5671G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|13/22|n.*5110G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000413051|nonsense_mediated_decay|6/7|n.*184G>A|||||| 22 38153607 . G C . . ANN=C|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000452519|protein_coding||c.*586G>C|||||2026|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000331103|retained_intron||n.*513G>C|||||2090|,C|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|15/23|c.5688-13G>C||||||,C|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|19/27|n.*5729-13G>C||||||,C|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|13/21|n.*5171-13G>C||||||,C|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000407319|protein_coding|5/7|c.549-13G>C||||||,C|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|5/13|c.549-13G>C||||||,C|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000428075|protein_coding|4/4|c.408-13G>C||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000413051|nonsense_mediated_decay|6/6|n.*245-13G>C||||||,C|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000418339|protein_coding|5/5|c.426-13G>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000417857|protein_coding|5/5|c.336-13G>C||||||WARNING_TRANSCRIPT_INCOMPLETE 22 38153696 . C T . . ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|16/24|c.5764C>T|p.Arg1922Trp|6019/10129|5764/7098|1922/2365||,T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000407319|protein_coding|6/8|c.625C>T|p.Arg209Trp|635/2125|625/1296|209/431||,T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|6/14|c.625C>T|p.Arg209Trp|630/2324|625/1959|209/652||,T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000428075|protein_coding|5/5|c.484C>T|p.Arg162Trp|485/931|484/930|162/309||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000418339|protein_coding|6/6|c.502C>T|p.Arg168Trp|646/939|502/795|168/264||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000417857|protein_coding|6/6|c.412C>T|p.Arg138Trp|561/919|412/770|138/255||WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|20/28|n.*5805C>T|||||66353|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|14/22|n.*5247C>T|||||41866|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000413051|nonsense_mediated_decay|7/7|n.*321C>T|||||2749|,T|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000452519|protein_coding||c.*586C>T|||||2115|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000331103|retained_intron||n.*513C>T|||||2179|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|20/28|n.*5805C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|14/22|n.*5247C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000413051|nonsense_mediated_decay|7/7|n.*321C>T|||||| 22 38153699 . G A . . ANN=A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|16/24|c.5767G>A|p.Ala1923Thr|6022/10129|5767/7098|1923/2365||,A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000407319|protein_coding|6/8|c.628G>A|p.Ala210Thr|638/2125|628/1296|210/431||,A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|6/14|c.628G>A|p.Ala210Thr|633/2324|628/1959|210/652||,A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000428075|protein_coding|5/5|c.487G>A|p.Ala163Thr|488/931|487/930|163/309||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000418339|protein_coding|6/6|c.505G>A|p.Ala169Thr|649/939|505/795|169/264||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000417857|protein_coding|6/6|c.415G>A|p.Ala139Thr|564/919|415/770|139/255||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|20/28|n.*5808G>A|||||66356|,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|14/22|n.*5250G>A|||||41869|,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000413051|nonsense_mediated_decay|7/7|n.*324G>A|||||2752|,A|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000452519|protein_coding||c.*586G>A|||||2118|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000331103|retained_intron||n.*513G>A|||||2182|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|20/28|n.*5808G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|14/22|n.*5250G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000413051|nonsense_mediated_decay|7/7|n.*324G>A|||||| 22 38153701 . G A . . ANN=A|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|16/24|c.5769G>A|p.Ala1923Ala|6024/10129|5769/7098|1923/2365||,A|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000407319|protein_coding|6/8|c.630G>A|p.Ala210Ala|640/2125|630/1296|210/431||,A|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|6/14|c.630G>A|p.Ala210Ala|635/2324|630/1959|210/652||,A|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000428075|protein_coding|5/5|c.489G>A|p.Ala163Ala|490/931|489/930|163/309||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000418339|protein_coding|6/6|c.507G>A|p.Ala169Ala|651/939|507/795|169/264||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000417857|protein_coding|6/6|c.417G>A|p.Ala139Ala|566/919|417/770|139/255||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|20/28|n.*5810G>A|||||66358|,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|14/22|n.*5252G>A|||||41871|,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000413051|nonsense_mediated_decay|7/7|n.*326G>A|||||2754|,A|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000452519|protein_coding||c.*586G>A|||||2120|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000331103|retained_intron||n.*513G>A|||||2184|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|20/28|n.*5810G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|14/22|n.*5252G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000413051|nonsense_mediated_decay|7/7|n.*326G>A|||||| 22 38153835 . G A . . ANN=A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|16/24|c.5903G>A|p.Arg1968His|6158/10129|5903/7098|1968/2365||,A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000407319|protein_coding|6/8|c.764G>A|p.Arg255His|774/2125|764/1296|255/431||,A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|6/14|c.764G>A|p.Arg255His|769/2324|764/1959|255/652||,A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000428075|protein_coding|5/5|c.623G>A|p.Arg208His|624/931|623/930|208/309||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000418339|protein_coding|6/6|c.641G>A|p.Arg214His|785/939|641/795|214/264||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000417857|protein_coding|6/6|c.551G>A|p.Arg184His|700/919|551/770|184/255||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|20/28|n.*5944G>A|||||66492|,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|14/22|n.*5386G>A|||||42005|,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000413051|nonsense_mediated_decay|7/7|n.*460G>A|||||2888|,A|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000452519|protein_coding||c.*586G>A|||||2254|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000331103|retained_intron||n.*513G>A|||||2318|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|20/28|n.*5944G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|14/22|n.*5386G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000413051|nonsense_mediated_decay|7/7|n.*460G>A|||||| 22 38154067 . C T . . ANN=T|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|16/24|c.6135C>T|p.Pro2045Pro|6390/10129|6135/7098|2045/2365||,T|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000407319|protein_coding|6/8|c.996C>T|p.Pro332Pro|1006/2125|996/1296|332/431||,T|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|6/14|c.996C>T|p.Pro332Pro|1001/2324|996/1959|332/652||,T|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000428075|protein_coding|5/5|c.855C>T|p.Pro285Pro|856/931|855/930|285/309||WARNING_TRANSCRIPT_NO_START_CODON,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|20/28|n.*6176C>T|||||66724|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|14/22|n.*5618C>T|||||42237|,T|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000413051|nonsense_mediated_decay||n.*309C>T|||||97|,T|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000418339|protein_coding||c.*939C>T|||||78|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000452519|protein_coding||c.*586C>T|||||2486|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000417857|protein_coding||c.*919C>T|||||13|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000331103|retained_intron||n.*513C>T|||||2550|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|20/28|n.*6176C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|14/22|n.*5618C>T|||||| 22 38154189 . G A . . ANN=A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|18/24|c.6213+44G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|21/24|c.6213+44G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|17/24|c.6213+44G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|19/24|c.6213+44G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|20/24|c.6213+44G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|16/24|c.6213+44G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|8/14|c.1074+44G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|11/14|c.1074+44G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|7/14|c.1074+44G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|9/14|c.1074+44G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|10/14|c.1074+44G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|6/14|c.1074+44G>A||||||,A|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000428075|protein_coding||c.*931G>A|||||47|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000413051|nonsense_mediated_decay||n.*309G>A|||||219|,A|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000418339|protein_coding||c.*939G>A|||||200|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000452519|protein_coding||c.*586G>A|||||2608|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000417857|protein_coding||c.*919G>A|||||135|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000331103|retained_intron||n.*513G>A|||||2672|,A|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|16/23|c.6213+44G>A||||||,A|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|20/27|n.*6254+44G>A||||||,A|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|14/21|n.*5696+44G>A||||||,A|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000407319|protein_coding|6/7|c.1074+44G>A||||||,A|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|6/13|c.1074+44G>A|||||| 22 38154193 . C T . . ANN=T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|18/24|c.6213+48C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|21/24|c.6213+48C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|17/24|c.6213+48C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|19/24|c.6213+48C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|20/24|c.6213+48C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|16/24|c.6213+48C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|8/14|c.1074+48C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|11/14|c.1074+48C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|7/14|c.1074+48C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|9/14|c.1074+48C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|10/14|c.1074+48C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|6/14|c.1074+48C>T||||||,T|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000428075|protein_coding||c.*931C>T|||||51|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000413051|nonsense_mediated_decay||n.*309C>T|||||223|,T|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000418339|protein_coding||c.*939C>T|||||204|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000452519|protein_coding||c.*586C>T|||||2612|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000417857|protein_coding||c.*919C>T|||||139|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000331103|retained_intron||n.*513C>T|||||2676|,T|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|16/23|c.6213+48C>T||||||,T|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|20/27|n.*6254+48C>T||||||,T|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|14/21|n.*5696+48C>T||||||,T|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000407319|protein_coding|6/7|c.1074+48C>T||||||,T|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|6/13|c.1074+48C>T|||||| 22 38155195 . G A . . ANN=A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|17/24|c.6248G>A|p.Arg2083His|6503/10129|6248/7098|2083/2365||,A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000407319|protein_coding|7/8|c.1109G>A|p.Arg370His|1119/2125|1109/1296|370/431||,A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|7/14|c.1109G>A|p.Arg370His|1114/2324|1109/1959|370/652||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|18/24|c.6248G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|21/24|c.6248G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|17/24|c.6248G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|19/24|c.6248G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|20/24|c.6248G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|16/24|c.6248G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|8/14|c.1109G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|11/14|c.1109G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|7/14|c.1109G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|9/14|c.1109G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|10/14|c.1109G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|6/14|c.1109G>A||||||,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|21/28|n.*6289G>A|||||67852|,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|15/22|n.*5731G>A|||||43365|,A|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000428075|protein_coding||c.*931G>A|||||1053|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000413051|nonsense_mediated_decay||n.*309G>A|||||1225|,A|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000418339|protein_coding||c.*939G>A|||||1206|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000452519|protein_coding||c.*586G>A|||||3614|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000417857|protein_coding||c.*919G>A|||||1141|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000331103|retained_intron||n.*513G>A|||||3678|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|21/28|n.*6289G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|15/22|n.*5731G>A|||||| 22 38155217 . G A . . ANN=A|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|17/24|c.6270G>A|p.Gln2090Gln|6525/10129|6270/7098|2090/2365||,A|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000407319|protein_coding|7/8|c.1131G>A|p.Gln377Gln|1141/2125|1131/1296|377/431||,A|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|7/14|c.1131G>A|p.Gln377Gln|1136/2324|1131/1959|377/652||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|18/24|c.6270G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|21/24|c.6270G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|17/24|c.6270G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|19/24|c.6270G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|20/24|c.6270G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|16/24|c.6270G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|8/14|c.1131G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|11/14|c.1131G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|7/14|c.1131G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|9/14|c.1131G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|10/14|c.1131G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|6/14|c.1131G>A||||||,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|21/28|n.*6311G>A|||||67874|,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|15/22|n.*5753G>A|||||43387|,A|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000428075|protein_coding||c.*931G>A|||||1075|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000413051|nonsense_mediated_decay||n.*309G>A|||||1247|,A|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000418339|protein_coding||c.*939G>A|||||1228|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000452519|protein_coding||c.*586G>A|||||3636|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000417857|protein_coding||c.*919G>A|||||1163|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000331103|retained_intron||n.*513G>A|||||3700|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|21/28|n.*6311G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|15/22|n.*5753G>A|||||| 22 38155219 . G C . . ANN=C|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|17/24|c.6272G>C|p.Ser2091Thr|6527/10129|6272/7098|2091/2365||,C|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000407319|protein_coding|7/8|c.1133G>C|p.Ser378Thr|1143/2125|1133/1296|378/431||,C|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|7/14|c.1133G>C|p.Ser378Thr|1138/2324|1133/1959|378/652||,C|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|18/24|c.6272G>C||||||,C|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|21/24|c.6272G>C||||||,C|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|17/24|c.6272G>C||||||,C|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|19/24|c.6272G>C||||||,C|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|20/24|c.6272G>C||||||,C|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|16/24|c.6272G>C||||||,C|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|8/14|c.1133G>C||||||,C|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|11/14|c.1133G>C||||||,C|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|7/14|c.1133G>C||||||,C|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|9/14|c.1133G>C||||||,C|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|10/14|c.1133G>C||||||,C|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|6/14|c.1133G>C||||||,C|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|21/28|n.*6313G>C|||||67876|,C|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|15/22|n.*5755G>C|||||43389|,C|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000428075|protein_coding||c.*931G>C|||||1077|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000413051|nonsense_mediated_decay||n.*309G>C|||||1249|,C|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000418339|protein_coding||c.*939G>C|||||1230|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000452519|protein_coding||c.*586G>C|||||3638|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000417857|protein_coding||c.*919G>C|||||1165|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000331103|retained_intron||n.*513G>C|||||3702|,C|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|21/28|n.*6313G>C||||||,C|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|15/22|n.*5755G>C|||||| 22 38155255 . C T . . ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|17/24|c.6308C>T|p.Pro2103Leu|6563/10129|6308/7098|2103/2365||,T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000407319|protein_coding|7/8|c.1169C>T|p.Pro390Leu|1179/2125|1169/1296|390/431||,T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|7/14|c.1169C>T|p.Pro390Leu|1174/2324|1169/1959|390/652||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|18/24|c.6308C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|21/24|c.6308C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|17/24|c.6308C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|19/24|c.6308C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|20/24|c.6308C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|16/24|c.6308C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|8/14|c.1169C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|11/14|c.1169C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|7/14|c.1169C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|9/14|c.1169C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|10/14|c.1169C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|6/14|c.1169C>T||||||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|21/28|n.*6349C>T|||||67912|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|15/22|n.*5791C>T|||||43425|,T|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000428075|protein_coding||c.*931C>T|||||1113|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000413051|nonsense_mediated_decay||n.*309C>T|||||1285|,T|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000418339|protein_coding||c.*939C>T|||||1266|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000452519|protein_coding||c.*586C>T|||||3674|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000417857|protein_coding||c.*919C>T|||||1201|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000331103|retained_intron||n.*513C>T|||||3738|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|21/28|n.*6349C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|15/22|n.*5791C>T|||||| 22 38155279 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|17/23|c.6324+8C>T||||||,T|splice_region_variant&intron_variant|LOW|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|21/27|n.*6365+8C>T||||||,T|splice_region_variant&intron_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|15/21|n.*5807+8C>T||||||,T|splice_region_variant&intron_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000407319|protein_coding|7/7|c.1185+8C>T||||||,T|splice_region_variant&intron_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|7/13|c.1185+8C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|18/24|c.6324+8C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|21/24|c.6324+8C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|17/24|c.6324+8C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|19/24|c.6324+8C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|20/24|c.6324+8C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|16/24|c.6324+8C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|8/14|c.1185+8C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|11/14|c.1185+8C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|7/14|c.1185+8C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|9/14|c.1185+8C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|10/14|c.1185+8C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|6/14|c.1185+8C>T||||||,T|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000428075|protein_coding||c.*931C>T|||||1137|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000413051|nonsense_mediated_decay||n.*309C>T|||||1309|,T|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000418339|protein_coding||c.*939C>T|||||1290|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000452519|protein_coding||c.*586C>T|||||3698|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000417857|protein_coding||c.*919C>T|||||1225|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000331103|retained_intron||n.*513C>T|||||3762| 22 38155317 . C G . . ANN=G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|18/24|c.6324+46C>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|21/24|c.6324+46C>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|17/24|c.6324+46C>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|19/24|c.6324+46C>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|20/24|c.6324+46C>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|16/24|c.6324+46C>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|8/14|c.1185+46C>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|11/14|c.1185+46C>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|7/14|c.1185+46C>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|9/14|c.1185+46C>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|10/14|c.1185+46C>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|6/14|c.1185+46C>G||||||,G|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000428075|protein_coding||c.*931C>G|||||1175|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000413051|nonsense_mediated_decay||n.*309C>G|||||1347|,G|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000418339|protein_coding||c.*939C>G|||||1328|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000452519|protein_coding||c.*586C>G|||||3736|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000417857|protein_coding||c.*919C>G|||||1263|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000331103|retained_intron||n.*513C>G|||||3800|,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|17/23|c.6324+46C>G||||||,G|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|21/27|n.*6365+46C>G||||||,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|15/21|n.*5807+46C>G||||||,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000407319|protein_coding|7/7|c.1185+46C>G||||||,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|7/13|c.1185+46C>G|||||| 22 38155398 . C T . . ANN=T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|18/24|c.6324+127C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|21/24|c.6324+127C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|17/24|c.6324+127C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|19/24|c.6324+127C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|20/24|c.6324+127C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|16/24|c.6324+127C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|8/14|c.1185+127C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|11/14|c.1185+127C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|7/14|c.1185+127C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|9/14|c.1185+127C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|10/14|c.1185+127C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|6/14|c.1185+127C>T||||||,T|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000428075|protein_coding||c.*931C>T|||||1256|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000413051|nonsense_mediated_decay||n.*309C>T|||||1428|,T|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000418339|protein_coding||c.*939C>T|||||1409|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000452519|protein_coding||c.*586C>T|||||3817|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000417857|protein_coding||c.*919C>T|||||1344|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000331103|retained_intron||n.*513C>T|||||3881|,T|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|17/23|c.6324+127C>T||||||,T|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|21/27|n.*6365+127C>T||||||,T|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|15/21|n.*5807+127C>T||||||,T|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000407319|protein_coding|7/7|c.1186-26C>T||||||,T|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|7/13|c.1185+127C>T|||||| 22 38155462 . G A . . ANN=A|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000407319|protein_coding|8/8|c.1224G>A|p.Arg408Arg|1234/2125|1224/1296|408/431||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|18/24|c.6324+191G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|21/24|c.6324+191G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|17/24|c.6324+191G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|19/24|c.6324+191G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|20/24|c.6324+191G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|16/24|c.6324+191G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|8/14|c.1185+191G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|11/14|c.1185+191G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|7/14|c.1185+191G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|9/14|c.1185+191G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|10/14|c.1185+191G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|6/14|c.1185+191G>A||||||,A|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000428075|protein_coding||c.*931G>A|||||1320|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000413051|nonsense_mediated_decay||n.*309G>A|||||1492|,A|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000418339|protein_coding||c.*939G>A|||||1473|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000452519|protein_coding||c.*586G>A|||||3881|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000417857|protein_coding||c.*919G>A|||||1408|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000331103|retained_intron||n.*513G>A|||||3945|,A|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|17/23|c.6324+191G>A||||||,A|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|21/27|n.*6365+191G>A||||||,A|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|15/21|n.*5807+191G>A||||||,A|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|7/13|c.1185+191G>A|||||| 22 38155497 . A G . . ANN=G|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000407319|protein_coding|8/8|c.1259A>G|p.Lys420Arg|1269/2125|1259/1296|420/431||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|18/24|c.6324+226A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|21/24|c.6324+226A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|17/24|c.6324+226A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|19/24|c.6324+226A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|20/24|c.6324+226A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|16/24|c.6324+226A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|8/14|c.1185+226A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|11/14|c.1185+226A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|7/14|c.1185+226A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|9/14|c.1185+226A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|10/14|c.1185+226A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|6/14|c.1185+226A>G||||||,G|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000428075|protein_coding||c.*931A>G|||||1355|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000413051|nonsense_mediated_decay||n.*309A>G|||||1527|,G|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000418339|protein_coding||c.*939A>G|||||1508|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000452519|protein_coding||c.*586A>G|||||3916|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000417857|protein_coding||c.*919A>G|||||1443|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000331103|retained_intron||n.*513A>G|||||3980|,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|17/23|c.6324+226A>G||||||,G|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|21/27|n.*6365+226A>G||||||,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|15/21|n.*5807+226A>G||||||,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|7/13|c.1185+226A>G|||||| 22 38161834 . C T . . ANN=T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|18/24|c.6472+10C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|21/24|c.6472+10C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|17/24|c.6472+10C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|19/24|c.6472+10C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|20/24|c.6472+10C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|16/24|c.6472+10C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|8/14|c.1333+10C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|11/14|c.1333+10C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|7/14|c.1333+10C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|9/14|c.1333+10C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|10/14|c.1333+10C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|6/14|c.1333+10C>T||||||,T|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|18/23|c.6472+10C>T||||||,T|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|22/27|n.*6513+10C>T||||||,T|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|16/21|n.*5955+10C>T||||||,T|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|8/13|c.1333+10C>T|||||| 22 38161835 . T TG . . ANN=G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|18/24|c.6472+11_6472+12insG||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|21/24|c.6472+11_6472+12insG||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|17/24|c.6472+11_6472+12insG||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|19/24|c.6472+11_6472+12insG||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|20/24|c.6472+11_6472+12insG||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|16/24|c.6472+11_6472+12insG||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|8/14|c.1333+11_1333+12insG||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|11/14|c.1333+11_1333+12insG||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|7/14|c.1333+11_1333+12insG||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|9/14|c.1333+11_1333+12insG||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|10/14|c.1333+11_1333+12insG||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|6/14|c.1333+11_1333+12insG||||||,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|18/23|c.6472+19dupG||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|22/27|n.*6513+19dupG||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|16/21|n.*5955+19dupG||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|8/13|c.1333+19dupG||||||INFO_REALIGN_3_PRIME 22 38161838 . G T . . ANN=T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|18/24|c.6472+14G>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|21/24|c.6472+14G>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|17/24|c.6472+14G>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|19/24|c.6472+14G>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|20/24|c.6472+14G>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|16/24|c.6472+14G>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|8/14|c.1333+14G>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|11/14|c.1333+14G>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|7/14|c.1333+14G>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|9/14|c.1333+14G>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|10/14|c.1333+14G>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|6/14|c.1333+14G>T||||||,T|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|18/23|c.6472+14G>T||||||,T|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|22/27|n.*6513+14G>T||||||,T|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|16/21|n.*5955+14G>T||||||,T|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|8/13|c.1333+14G>T|||||| 22 38161839 . G GA . . ANN=A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|18/24|c.6472+15_6472+16insA||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|21/24|c.6472+15_6472+16insA||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|17/24|c.6472+15_6472+16insA||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|19/24|c.6472+15_6472+16insA||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|20/24|c.6472+15_6472+16insA||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|16/24|c.6472+15_6472+16insA||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|8/14|c.1333+15_1333+16insA||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|11/14|c.1333+15_1333+16insA||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|7/14|c.1333+15_1333+16insA||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|9/14|c.1333+15_1333+16insA||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|10/14|c.1333+15_1333+16insA||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|6/14|c.1333+15_1333+16insA||||||,A|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|18/23|c.6472+15_6472+16insA||||||,A|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|22/27|n.*6513+15_*6513+16insA||||||,A|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|16/21|n.*5955+15_*5955+16insA||||||,A|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|8/13|c.1333+15_1333+16insA|||||| 22 38161857 . G A . . ANN=A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|18/24|c.6472+33G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|21/24|c.6472+33G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|17/24|c.6472+33G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|19/24|c.6472+33G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|20/24|c.6472+33G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|16/24|c.6472+33G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|8/14|c.1333+33G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|11/14|c.1333+33G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|7/14|c.1333+33G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|9/14|c.1333+33G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|10/14|c.1333+33G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|6/14|c.1333+33G>A||||||,A|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|18/23|c.6472+33G>A||||||,A|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|22/27|n.*6513+33G>A||||||,A|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|16/21|n.*5955+33G>A||||||,A|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|8/13|c.1333+33G>A|||||| 22 38164106 . C T . . ANN=T|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|19/24|c.6498C>T|p.Tyr2166Tyr|6753/10129|6498/7098|2166/2365||,T|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|9/14|c.1359C>T|p.Tyr453Tyr|1364/2324|1359/1959|453/652||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|18/24|c.6498C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|21/24|c.6498C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|17/24|c.6498C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|19/24|c.6498C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|20/24|c.6498C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|16/24|c.6498C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|8/14|c.1359C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|11/14|c.1359C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|7/14|c.1359C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|9/14|c.1359C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|10/14|c.1359C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|6/14|c.1359C>T||||||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|23/28|n.*6539C>T|||||76763|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|17/22|n.*5981C>T|||||52276|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|23/28|n.*6539C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|17/22|n.*5981C>T|||||| 22 38164164 . G A . . ANN=A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|19/24|c.6556G>A|p.Gly2186Ser|6811/10129|6556/7098|2186/2365||,A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|9/14|c.1417G>A|p.Gly473Ser|1422/2324|1417/1959|473/652||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|18/24|c.6556G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|21/24|c.6556G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|17/24|c.6556G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|19/24|c.6556G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|20/24|c.6556G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|16/24|c.6556G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|8/14|c.1417G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|11/14|c.1417G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|7/14|c.1417G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|9/14|c.1417G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|10/14|c.1417G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|6/14|c.1417G>A||||||,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|23/28|n.*6597G>A|||||76821|,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|17/22|n.*6039G>A|||||52334|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|23/28|n.*6597G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|17/22|n.*6039G>A|||||| 22 38164179 . C T . . ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|19/24|c.6571C>T|p.His2191Tyr|6826/10129|6571/7098|2191/2365||,T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|9/14|c.1432C>T|p.His478Tyr|1437/2324|1432/1959|478/652||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|18/24|c.6571C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|21/24|c.6571C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|17/24|c.6571C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|19/24|c.6571C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|20/24|c.6571C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|16/24|c.6571C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|8/14|c.1432C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|11/14|c.1432C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|7/14|c.1432C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|9/14|c.1432C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|10/14|c.1432C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|6/14|c.1432C>T||||||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|23/28|n.*6612C>T|||||76836|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|17/22|n.*6054C>T|||||52349|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|23/28|n.*6612C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|17/22|n.*6054C>T|||||| 22 38165091 . A T . . ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|20/24|c.6632A>T|p.Gln2211Leu|6887/10129|6632/7098|2211/2365||,T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|10/14|c.1493A>T|p.Gln498Leu|1498/2324|1493/1959|498/652||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|18/24|c.6632A>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|21/24|c.6632A>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|17/24|c.6632A>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|19/24|c.6632A>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|20/24|c.6632A>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|16/24|c.6632A>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|8/14|c.1493A>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|11/14|c.1493A>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|7/14|c.1493A>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|9/14|c.1493A>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|10/14|c.1493A>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|6/14|c.1493A>T||||||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|24/28|n.*6673A>T|||||77748|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|18/22|n.*6115A>T|||||53261|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|24/28|n.*6673A>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|18/22|n.*6115A>T|||||| 22 38165151 . G A . . ANN=A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|20/24|c.6692G>A|p.Arg2231His|6947/10129|6692/7098|2231/2365||,A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|10/14|c.1553G>A|p.Arg518His|1558/2324|1553/1959|518/652||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|18/24|c.6692G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|21/24|c.6692G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|17/24|c.6692G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|19/24|c.6692G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|20/24|c.6692G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|16/24|c.6692G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|8/14|c.1553G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|11/14|c.1553G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|7/14|c.1553G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|9/14|c.1553G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|10/14|c.1553G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|6/14|c.1553G>A||||||,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|24/28|n.*6733G>A|||||77808|,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|18/22|n.*6175G>A|||||53321|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|24/28|n.*6733G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|18/22|n.*6175G>A|||||| 22 38165153 . C T . . ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|20/24|c.6694C>T|p.Arg2232Cys|6949/10129|6694/7098|2232/2365||,T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|10/14|c.1555C>T|p.Arg519Cys|1560/2324|1555/1959|519/652||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|18/24|c.6694C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|21/24|c.6694C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|17/24|c.6694C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|19/24|c.6694C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|20/24|c.6694C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|16/24|c.6694C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|8/14|c.1555C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|11/14|c.1555C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|7/14|c.1555C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|9/14|c.1555C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|10/14|c.1555C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|6/14|c.1555C>T||||||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|24/28|n.*6735C>T|||||77810|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|18/22|n.*6177C>T|||||53323|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|24/28|n.*6735C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|18/22|n.*6177C>T|||||| 22 38165223 . CG C . . ANN=|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|18/24|c.6735+30delG||||||,|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|21/24|c.6735+30delG||||||,|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|17/24|c.6735+30delG||||||,|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|19/24|c.6735+30delG||||||,|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|20/24|c.6735+30delG||||||,|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|16/24|c.6735+30delG||||||,|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|8/14|c.1596+30delG||||||,|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|11/14|c.1596+30delG||||||,|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|7/14|c.1596+30delG||||||,|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|9/14|c.1596+30delG||||||,|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|10/14|c.1596+30delG||||||,|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|6/14|c.1596+30delG||||||,|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|20/23|c.6735+32delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|24/27|n.*6776+32delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|18/21|n.*6218+32delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|10/13|c.1596+32delG||||||INFO_REALIGN_3_PRIME 22 38165269 . G A . . ANN=A|missense_variant&splice_region_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|21/24|c.6736G>A|p.Glu2246Lys|6991/10129|6736/7098|2246/2365||,A|missense_variant&splice_region_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|11/14|c.1597G>A|p.Glu533Lys|1602/2324|1597/1959|533/652||,A|splice_region_variant&non_coding_exon_variant|LOW|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|25/28|n.*6777G>A||||||,A|splice_region_variant&non_coding_exon_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|19/22|n.*6219G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|18/24|c.6736G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|21/24|c.6736G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|17/24|c.6736G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|19/24|c.6736G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|20/24|c.6736G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|16/24|c.6736G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|8/14|c.1597G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|11/14|c.1597G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|7/14|c.1597G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|9/14|c.1597G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|10/14|c.1597G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|6/14|c.1597G>A||||||,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|25/28|n.*6777G>A|||||77926|,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|19/22|n.*6219G>A|||||53439| 22 38165302 . C G . . ANN=G|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|21/24|c.6769C>G|p.Gln2257Glu|7024/10129|6769/7098|2257/2365||,G|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|11/14|c.1630C>G|p.Gln544Glu|1635/2324|1630/1959|544/652||,G|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|25/28|n.*6810C>G|||||77959|,G|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|19/22|n.*6252C>G|||||53472|,G|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|25/28|n.*6810C>G||||||,G|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|19/22|n.*6252C>G|||||| 22 38165304 . G A . . ANN=A|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|21/24|c.6771G>A|p.Gln2257Gln|7026/10129|6771/7098|2257/2365||,A|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|11/14|c.1632G>A|p.Gln544Gln|1637/2324|1632/1959|544/652||,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|25/28|n.*6812G>A|||||77961|,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|19/22|n.*6254G>A|||||53474|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|25/28|n.*6812G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|19/22|n.*6254G>A|||||| 22 38165339 . A G . . ANN=G|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|21/24|c.6806A>G|p.Asn2269Ser|7061/10129|6806/7098|2269/2365||,G|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|11/14|c.1667A>G|p.Asn556Ser|1672/2324|1667/1959|556/652||,G|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|25/28|n.*6847A>G|||||77996|,G|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|19/22|n.*6289A>G|||||53509|,G|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|25/28|n.*6847A>G||||||,G|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|19/22|n.*6289A>G|||||| 22 38167607 . G T . . ANN=T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|21/24|c.6850-50G>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|22/24|c.6850-50G>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|23/24|c.6850-50G>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|11/14|c.1711-50G>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|12/14|c.1711-50G>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|13/14|c.1711-50G>T||||||,T|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|21/23|c.6850-50G>T||||||,T|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|25/27|n.*6891-50G>T||||||,T|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|19/21|n.*6333-50G>T||||||,T|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|11/13|c.1711-50G>T|||||| 22 38167662 . G T . . ANN=T|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|22/24|c.6855G>T|p.Leu2285Leu|7110/10129|6855/7098|2285/2365||,T|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|12/14|c.1716G>T|p.Leu572Leu|1721/2324|1716/1959|572/652||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|21/24|c.6855G>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|22/24|c.6855G>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|23/24|c.6855G>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|11/14|c.1716G>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|12/14|c.1716G>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|13/14|c.1716G>T||||||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|26/28|n.*6896G>T|||||80319|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|20/22|n.*6338G>T|||||55832|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|26/28|n.*6896G>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|20/22|n.*6338G>T|||||| 22 38167669 . G A . . ANN=A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|22/24|c.6862G>A|p.Val2288Ile|7117/10129|6862/7098|2288/2365||,A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|12/14|c.1723G>A|p.Val575Ile|1728/2324|1723/1959|575/652||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|21/24|c.6862G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|22/24|c.6862G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|23/24|c.6862G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|11/14|c.1723G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|12/14|c.1723G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|13/14|c.1723G>A||||||,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|26/28|n.*6903G>A|||||80326|,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|20/22|n.*6345G>A|||||55839|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|26/28|n.*6903G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|20/22|n.*6345G>A|||||| 22 38167706 . T C . . ANN=C|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|22/24|c.6899T>C|p.Val2300Ala|7154/10129|6899/7098|2300/2365||,C|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|12/14|c.1760T>C|p.Val587Ala|1765/2324|1760/1959|587/652||,C|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|21/24|c.6899T>C||||||,C|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|22/24|c.6899T>C||||||,C|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|23/24|c.6899T>C||||||,C|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|11/14|c.1760T>C||||||,C|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|12/14|c.1760T>C||||||,C|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|13/14|c.1760T>C||||||,C|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|26/28|n.*6940T>C|||||80363|,C|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|20/22|n.*6382T>C|||||55876|,C|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|26/28|n.*6940T>C||||||,C|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|20/22|n.*6382T>C|||||| 22 38168567 . G A . . ANN=A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|21/24|c.6937-41G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|22/24|c.6937-41G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|23/24|c.6937-41G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|11/14|c.1798-41G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|12/14|c.1798-41G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|13/14|c.1798-41G>A||||||,A|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|22/23|c.6937-41G>A||||||,A|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|26/27|n.*6978-41G>A||||||,A|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|20/21|n.*6420-41G>A||||||,A|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|12/13|c.1798-41G>A|||||| 22 38168578 . A G . . ANN=G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|21/24|c.6937-30A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|22/24|c.6937-30A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|23/24|c.6937-30A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|11/14|c.1798-30A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|12/14|c.1798-30A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|13/14|c.1798-30A>G||||||,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|22/23|c.6937-30A>G||||||,G|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|26/27|n.*6978-30A>G||||||,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|20/21|n.*6420-30A>G||||||,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|12/13|c.1798-30A>G|||||| 22 38168645 . A G . . ANN=G|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|23/24|c.6974A>G|p.Tyr2325Cys|7229/10129|6974/7098|2325/2365||,G|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|13/14|c.1835A>G|p.Tyr612Cys|1840/2324|1835/1959|612/652||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|21/24|c.6974A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|22/24|c.6974A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|23/24|c.6974A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|11/14|c.1835A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|12/14|c.1835A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|13/14|c.1835A>G||||||,G|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|27/28|n.*7015A>G|||||81302|,G|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|21/22|n.*6457A>G|||||56815|,G|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|27/28|n.*7015A>G||||||,G|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|21/22|n.*6457A>G|||||| 22 38168703 . G A . . ANN=A|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|23/24|c.7032G>A|p.Glu2344Glu|7287/10129|7032/7098|2344/2365||,A|synonymous_variant|LOW|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|13/14|c.1893G>A|p.Glu631Glu|1898/2324|1893/1959|631/652||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|21/24|c.7032G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|22/24|c.7032G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|23/24|c.7032G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|11/14|c.1893G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|12/14|c.1893G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|13/14|c.1893G>A||||||,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|27/28|n.*7073G>A|||||81360|,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|21/22|n.*6515G>A|||||56873|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|27/28|n.*7073G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|21/22|n.*6515G>A|||||| 22 38201542 . A G . . ANN=G|5_prime_UTR_variant|MODIFIER|H1F0|ENSG00000189060|transcript|ENST00000340857|protein_coding|1/1|c.-10A>G|||||10|,G|upstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding||c.-64A>G|||||2370|,G|upstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding||c.-57A>G|||||2377|,G|upstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding||c.-53A>G|||||2381|WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript||n.-1A>G|||||2388|,G|upstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron||n.-1A>G|||||2399|,G|upstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay||n.-31A>G|||||2403|,G|upstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding||c.-3A>G|||||2479|WARNING_TRANSCRIPT_NO_START_CODON 22 38201546 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|H1F0|ENSG00000189060|transcript|ENST00000340857|protein_coding|1/1|c.-6G>A|||||6|,A|upstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding||c.-64G>A|||||2366|,A|upstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding||c.-57G>A|||||2373|,A|upstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding||c.-53G>A|||||2377|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript||n.-1G>A|||||2384|,A|upstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron||n.-1G>A|||||2395|,A|upstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay||n.-31G>A|||||2399|,A|upstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding||c.-3G>A|||||2475|WARNING_TRANSCRIPT_NO_START_CODON 22 38201761 . G A . . ANN=A|synonymous_variant|LOW|H1F0|ENSG00000189060|transcript|ENST00000340857|protein_coding|1/1|c.210G>A|p.Leu70Leu|648/2329|210/585|70/194||,A|sequence_feature|LOW|H1F0|ENSG00000189060|domain:H15|ENST00000340857|protein_coding|1/1|c.210G>A||||||,A|upstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding||c.-64G>A|||||2151|,A|upstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding||c.-57G>A|||||2158|,A|upstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding||c.-53G>A|||||2162|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript||n.-1G>A|||||2169|,A|upstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron||n.-1G>A|||||2180|,A|upstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay||n.-31G>A|||||2184|,A|upstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding||c.-3G>A|||||2260|WARNING_TRANSCRIPT_NO_START_CODON 22 38201860 . G A . . ANN=A|synonymous_variant|LOW|H1F0|ENSG00000189060|transcript|ENST00000340857|protein_coding|1/1|c.309G>A|p.Lys103Lys|747/2329|309/585|103/194||,A|upstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding||c.-64G>A|||||2052|,A|upstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding||c.-57G>A|||||2059|,A|upstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding||c.-53G>A|||||2063|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript||n.-1G>A|||||2070|,A|upstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron||n.-1G>A|||||2081|,A|upstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay||n.-31G>A|||||2085|,A|upstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding||c.-3G>A|||||2161|WARNING_TRANSCRIPT_NO_START_CODON 22 38202015 . A G . . ANN=G|missense_variant|MODERATE|H1F0|ENSG00000189060|transcript|ENST00000340857|protein_coding|1/1|c.464A>G|p.Lys155Arg|902/2329|464/585|155/194||,G|upstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding||c.-64A>G|||||1897|,G|upstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding||c.-57A>G|||||1904|,G|upstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding||c.-53A>G|||||1908|WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript||n.-1A>G|||||1915|,G|upstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron||n.-1A>G|||||1926|,G|upstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay||n.-31A>G|||||1930|,G|upstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding||c.-3A>G|||||2006|WARNING_TRANSCRIPT_NO_START_CODON 22 38203942 . G C . . ANN=C|5_prime_UTR_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|1/10|c.-33G>C|||||33|,C|5_prime_UTR_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|1/9|c.-33G>C|||||33|,C|5_prime_UTR_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding|1/4|c.-33G>C|||||33|WARNING_TRANSCRIPT_NO_STOP_CODON,C|upstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay||n.-31G>C|||||3|,C|upstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding||c.-3G>C|||||79|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|H1F0|ENSG00000189060|transcript|ENST00000340857|protein_coding||c.*1023G>C|||||500|,C|non_coding_exon_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript|1/3|n.13G>C||||||,C|non_coding_exon_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron|1/3|n.2G>C|||||| 22 38203958 . C T . . ANN=T|5_prime_UTR_premature_start_codon_gain_variant|LOW|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|1/10|c.-17C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|1/9|c.-17C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding|1/4|c.-17C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay|1/4|n.-17C>T||||||,T|5_prime_UTR_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|1/10|c.-17C>T|||||17|,T|5_prime_UTR_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|1/9|c.-17C>T|||||17|,T|5_prime_UTR_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding|1/4|c.-17C>T|||||17|WARNING_TRANSCRIPT_NO_STOP_CODON,T|5_prime_UTR_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay|1/4|n.-17C>T|||||17|,T|upstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding||c.-3C>T|||||63|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|H1F0|ENSG00000189060|transcript|ENST00000340857|protein_coding||c.*1023C>T|||||516|,T|non_coding_exon_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript|1/3|n.29C>T||||||,T|non_coding_exon_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron|1/3|n.18C>T||||||,T|non_coding_exon_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay|1/4|n.-17C>T|||||| 22 38203979 . G A . . ANN=A|stop_gained|HIGH|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|1/10|c.5G>A|p.Trp2*|68/1656|5/1338|2/445||,A|stop_gained|HIGH|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|1/9|c.5G>A|p.Trp2*|61/1495|5/1260|2/419||,A|stop_gained|HIGH|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding|1/4|c.5G>A|p.Trp2*|57/583|5/531|2/176||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|GCAT|ENSG00000100116|transit_peptide:Mitochondrion|ENST00000323205|protein_coding|1/10|c.5G>A||||||,A|sequence_feature|LOW|GCAT|ENSG00000100116|transit_peptide:Mitochondrion|ENST00000248924|protein_coding|1/9|c.5G>A||||||,A|upstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding||c.-3G>A|||||42|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|H1F0|ENSG00000189060|transcript|ENST00000340857|protein_coding||c.*1023G>A|||||537|,A|non_coding_exon_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript|1/3|n.50G>A||||||,A|non_coding_exon_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron|1/3|n.39G>A||||||,A|non_coding_exon_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay|1/4|n.5G>A||||||;LOF=(GCAT|ENSG00000100116|7|0.43);NMD=(GCAT|ENSG00000100116|7|0.43) 22 38204029 . C T . . ANN=T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|1/10|c.55C>T|p.Arg19Cys|118/1656|55/1338|19/445||,T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|1/9|c.55C>T|p.Arg19Cys|111/1495|55/1260|19/419||,T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding|1/4|c.55C>T|p.Arg19Cys|107/583|55/531|19/176||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding|1/4|c.7C>T|p.Arg3Cys|9/716|7/714|3/237||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|GCAT|ENSG00000100116|transit_peptide:Mitochondrion|ENST00000323205|protein_coding|1/10|c.55C>T||||||,T|sequence_feature|LOW|GCAT|ENSG00000100116|transit_peptide:Mitochondrion|ENST00000248924|protein_coding|1/9|c.55C>T||||||,T|downstream_gene_variant|MODIFIER|H1F0|ENSG00000189060|transcript|ENST00000340857|protein_coding||c.*1023C>T|||||587|,T|non_coding_exon_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript|1/3|n.100C>T||||||,T|non_coding_exon_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron|1/3|n.89C>T||||||,T|non_coding_exon_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay|1/4|n.55C>T|||||| 22 38204033 . C T . . ANN=T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|1/10|c.59C>T|p.Ala20Val|122/1656|59/1338|20/445||,T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|1/9|c.59C>T|p.Ala20Val|115/1495|59/1260|20/419||,T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding|1/4|c.59C>T|p.Ala20Val|111/583|59/531|20/176||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding|1/4|c.11C>T|p.Ala4Val|13/716|11/714|4/237||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|GCAT|ENSG00000100116|transit_peptide:Mitochondrion|ENST00000323205|protein_coding|1/10|c.59C>T||||||,T|sequence_feature|LOW|GCAT|ENSG00000100116|transit_peptide:Mitochondrion|ENST00000248924|protein_coding|1/9|c.59C>T||||||,T|downstream_gene_variant|MODIFIER|H1F0|ENSG00000189060|transcript|ENST00000340857|protein_coding||c.*1023C>T|||||591|,T|non_coding_exon_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript|1/3|n.104C>T||||||,T|non_coding_exon_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron|1/3|n.93C>T||||||,T|non_coding_exon_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay|1/4|n.59C>T|||||| 22 38204089 . C T . . ANN=T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|1/10|c.115C>T|p.Arg39Cys|178/1656|115/1338|39/445||,T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|1/9|c.115C>T|p.Arg39Cys|171/1495|115/1260|39/419||,T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding|1/4|c.115C>T|p.Arg39Cys|167/583|115/531|39/176||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding|1/4|c.67C>T|p.Arg23Cys|69/716|67/714|23/237||WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|H1F0|ENSG00000189060|transcript|ENST00000340857|protein_coding||c.*1023C>T|||||647|,T|non_coding_exon_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript|1/3|n.160C>T||||||,T|non_coding_exon_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron|1/3|n.149C>T||||||,T|non_coding_exon_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay|1/4|n.115C>T|||||| 22 38204130 . C T . . ANN=T|synonymous_variant|LOW|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|1/10|c.156C>T|p.Ser52Ser|219/1656|156/1338|52/445||,T|synonymous_variant|LOW|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|1/9|c.156C>T|p.Ser52Ser|212/1495|156/1260|52/419||,T|synonymous_variant|LOW|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding|1/4|c.156C>T|p.Ser52Ser|208/583|156/531|52/176||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding|1/4|c.108C>T|p.Ser36Ser|110/716|108/714|36/237||WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|H1F0|ENSG00000189060|transcript|ENST00000340857|protein_coding||c.*1023C>T|||||688|,T|non_coding_exon_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript|1/3|n.201C>T||||||,T|non_coding_exon_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron|1/3|n.190C>T||||||,T|non_coding_exon_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay|1/4|n.156C>T|||||| 22 38204180 . C A,G,T . . ANN=A|downstream_gene_variant|MODIFIER|H1F0|ENSG00000189060|transcript|ENST00000340857|protein_coding||c.*1023C>A|||||738|,G|downstream_gene_variant|MODIFIER|H1F0|ENSG00000189060|transcript|ENST00000340857|protein_coding||c.*1023C>G|||||738|,T|downstream_gene_variant|MODIFIER|H1F0|ENSG00000189060|transcript|ENST00000340857|protein_coding||c.*1023C>T|||||738|,A|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|1/9|c.196+10C>A||||||,G|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|1/9|c.196+10C>G||||||,T|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|1/9|c.196+10C>T||||||,A|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|1/8|c.196+10C>A||||||,G|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|1/8|c.196+10C>G||||||,T|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|1/8|c.196+10C>T||||||,A|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding|1/3|c.196+10C>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding|1/3|c.196+10C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding|1/3|c.196+10C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript|1/2|n.241+10C>A||||||,G|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript|1/2|n.241+10C>G||||||,T|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript|1/2|n.241+10C>T||||||,A|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron|1/2|n.230+10C>A||||||,G|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron|1/2|n.230+10C>G||||||,T|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron|1/2|n.230+10C>T||||||,A|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay|1/3|n.196+10C>A||||||,G|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay|1/3|n.196+10C>G||||||,T|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay|1/3|n.196+10C>T||||||,A|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding|1/3|c.148+10C>A||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding|1/3|c.148+10C>G||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding|1/3|c.148+10C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 38204209 . C T . . ANN=T|downstream_gene_variant|MODIFIER|H1F0|ENSG00000189060|transcript|ENST00000340857|protein_coding||c.*1023C>T|||||767|,T|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|1/9|c.196+39C>T||||||,T|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|1/8|c.196+39C>T||||||,T|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding|1/3|c.196+39C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript|1/2|n.241+39C>T||||||,T|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron|1/2|n.230+39C>T||||||,T|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay|1/3|n.196+39C>T||||||,T|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding|1/3|c.148+39C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 38205989 . T C . . ANN=C|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|2/10|c.230T>C|p.Leu77Ser|293/1656|230/1338|77/445||,C|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding|2/4|c.230T>C|p.Leu77Ser|282/583|230/531|77/176||WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|H1F0|ENSG00000189060|transcript|ENST00000340857|protein_coding||c.*1023T>C|||||2547|,C|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|1/8|c.197-45T>C||||||,C|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript|1/2|n.241+1819T>C||||||,C|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron|1/2|n.231-45T>C||||||,C|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay|1/3|n.196+1819T>C||||||,C|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding|1/3|c.149-45T>C||||||WARNING_TRANSCRIPT_NO_START_CODON 22 38206081 . C T . . ANN=T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|2/10|c.322C>T|p.Pro108Ser|385/1656|322/1338|108/445||,T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|2/9|c.244C>T|p.Pro82Ser|300/1495|244/1260|82/419||,T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding|2/4|c.322C>T|p.Pro108Ser|374/583|322/531|108/176||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding|2/4|c.196C>T|p.Pro66Ser|198/716|196/714|66/237||WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|H1F0|ENSG00000189060|transcript|ENST00000340857|protein_coding||c.*1023C>T|||||2639|,T|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript|1/2|n.241+1911C>T||||||,T|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay|1/3|n.196+1911C>T||||||,T|non_coding_exon_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron|2/3|n.278C>T|||||| 22 38206124 . G T . . ANN=T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|2/10|c.365G>T|p.Gly122Val|428/1656|365/1338|122/445||,T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|2/9|c.287G>T|p.Gly96Val|343/1495|287/1260|96/419||,T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding|2/4|c.365G>T|p.Gly122Val|417/583|365/531|122/176||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding|2/4|c.239G>T|p.Gly80Val|241/716|239/714|80/237||WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|H1F0|ENSG00000189060|transcript|ENST00000340857|protein_coding||c.*1023G>T|||||2682|,T|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript|1/2|n.241+1954G>T||||||,T|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay|1/3|n.196+1954G>T||||||,T|non_coding_exon_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron|2/3|n.321G>T|||||| 22 38208872 . G C . . ANN=C|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|2/9|c.406-22G>C||||||,C|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|2/8|c.328-22G>C||||||,C|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding|2/3|c.406-22G>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript|1/2|n.242-22G>C||||||,C|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron|2/2|n.362-22G>C||||||,C|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay|1/3|n.197-22G>C||||||,C|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding|2/3|c.280-22G>C||||||WARNING_TRANSCRIPT_NO_START_CODON 22 38208984 . G C . . ANN=C|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|3/10|c.496G>C|p.Gly166Arg|559/1656|496/1338|166/445||,C|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|3/9|c.418G>C|p.Gly140Arg|474/1495|418/1260|140/419||,C|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding|3/4|c.496G>C|p.Gly166Arg|548/583|496/531|166/176||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding|3/4|c.370G>C|p.Gly124Arg|372/716|370/714|124/237||WARNING_TRANSCRIPT_NO_START_CODON,C|3_prime_UTR_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay|2/4|n.*11G>C|||||11|,C|non_coding_exon_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript|2/3|n.332G>C||||||,C|non_coding_exon_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron|3/3|n.452G>C||||||,C|non_coding_exon_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay|2/4|n.*11G>C|||||| 22 38209502 . G A . . ANN=A|synonymous_variant|LOW|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|4/10|c.540G>A|p.Ser180Ser|603/1656|540/1338|180/445||,A|synonymous_variant|LOW|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|4/9|c.462G>A|p.Ser154Ser|518/1495|462/1260|154/419||,A|synonymous_variant|LOW|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding|4/4|c.600G>A|p.Ser200Ser|602/716|600/714|200/237||WARNING_TRANSCRIPT_NO_START_CODON,A|3_prime_UTR_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay|3/4|n.*55G>A|||||529|,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding||c.*583G>A|||||195|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript||n.*552G>A|||||10|,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron||n.*551G>A|||||419|,A|non_coding_exon_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay|3/4|n.*55G>A|||||| 22 38209527 . A T . . ANN=T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|4/10|c.565A>T|p.Ile189Phe|628/1656|565/1338|189/445||,T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|4/9|c.487A>T|p.Ile163Phe|543/1495|487/1260|163/419||,T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding|4/4|c.625A>T|p.Ile209Phe|627/716|625/714|209/237||WARNING_TRANSCRIPT_NO_START_CODON,T|3_prime_UTR_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay|3/4|n.*80A>T|||||554|,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding||c.*583A>T|||||220|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript||n.*552A>T|||||35|,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron||n.*551A>T|||||444|,T|non_coding_exon_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay|3/4|n.*80A>T|||||| 22 38209586 . C T . . ANN=T|synonymous_variant|LOW|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|4/10|c.624C>T|p.Ala208Ala|687/1656|624/1338|208/445||,T|synonymous_variant|LOW|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|4/9|c.546C>T|p.Ala182Ala|602/1495|546/1260|182/419||,T|synonymous_variant|LOW|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding|4/4|c.684C>T|p.Ala228Ala|686/716|684/714|228/237||WARNING_TRANSCRIPT_NO_START_CODON,T|3_prime_UTR_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay|3/4|n.*139C>T|||||613|,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding||c.*583C>T|||||279|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript||n.*552C>T|||||94|,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron||n.*551C>T|||||503|,T|non_coding_exon_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay|3/4|n.*139C>T|||||| 22 38209618 . T C . . ANN=C|splice_donor_variant&intron_variant|HIGH|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|4/9|c.654+2T>C||||||,C|splice_donor_variant&intron_variant|HIGH|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|4/8|c.576+2T>C||||||,C|splice_donor_variant&intron_variant|HIGH|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay|3/3|n.*169+2T>C||||||,C|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding||c.*583T>C|||||311|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript||n.*552T>C|||||126|,C|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron||n.*551T>C|||||535|,C|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding||c.*716T>C|||||2|WARNING_TRANSCRIPT_NO_START_CODON;LOF=(GCAT|ENSG00000100116|7|0.29) 22 38209623 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|4/9|c.654+7C>T||||||,T|splice_region_variant&intron_variant|LOW|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|4/8|c.576+7C>T||||||,T|splice_region_variant&intron_variant|LOW|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay|3/3|n.*169+7C>T||||||,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding||c.*583C>T|||||316|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript||n.*552C>T|||||131|,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron||n.*551C>T|||||540|,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding||c.*716C>T|||||7|WARNING_TRANSCRIPT_NO_START_CODON 22 38209627 . G A . . ANN=A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding||c.*583G>A|||||320|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript||n.*552G>A|||||135|,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron||n.*551G>A|||||544|,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding||c.*716G>A|||||11|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|4/9|c.654+11G>A||||||,A|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|4/8|c.576+11G>A||||||,A|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay|3/3|n.*169+11G>A|||||| 22 38209649 . C T . . ANN=T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding||c.*583C>T|||||342|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript||n.*552C>T|||||157|,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron||n.*551C>T|||||566|,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding||c.*716C>T|||||33|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|4/9|c.654+33C>T||||||,T|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|4/8|c.576+33C>T||||||,T|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay|3/3|n.*169+33C>T|||||| 22 38209650 . G A . . ANN=A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding||c.*583G>A|||||343|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript||n.*552G>A|||||158|,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron||n.*551G>A|||||567|,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding||c.*716G>A|||||34|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|4/9|c.654+34G>A||||||,A|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|4/8|c.576+34G>A||||||,A|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay|3/3|n.*169+34G>A|||||| 22 38209651 . C T . . ANN=T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding||c.*583C>T|||||344|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript||n.*552C>T|||||159|,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron||n.*551C>T|||||568|,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding||c.*716C>T|||||35|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|4/9|c.654+35C>T||||||,T|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|4/8|c.576+35C>T||||||,T|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay|3/3|n.*169+35C>T|||||| 22 38211106 . C T . . ANN=T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding||c.*583C>T|||||1799|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript||n.*552C>T|||||1614|,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron||n.*551C>T|||||2023|,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding||c.*716C>T|||||1490|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|4/9|c.655-27C>T||||||,T|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|4/8|c.577-27C>T||||||,T|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay|3/3|n.*170-27C>T|||||| 22 38211117 . C G . . ANN=G|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding||c.*583C>G|||||1810|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript||n.*552C>G|||||1625|,G|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron||n.*551C>G|||||2034|,G|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding||c.*716C>G|||||1501|WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|4/9|c.655-16C>G||||||,G|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|4/8|c.577-16C>G||||||,G|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay|3/3|n.*170-16C>G|||||| 22 38211281 . C G . . ANN=G|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|5/10|c.803C>G|p.Thr268Arg|866/1656|803/1338|268/445||,G|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|5/9|c.725C>G|p.Thr242Arg|781/1495|725/1260|242/419||,G|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding||c.*583C>G|||||1974|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript||n.*552C>G|||||1789|,G|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron||n.*551C>G|||||2198|,G|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay||n.*306C>G|||||66|,G|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding||c.*716C>G|||||1665|WARNING_TRANSCRIPT_NO_START_CODON 22 38211445 . G A . . ANN=A|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|6/10|c.830G>A|p.Gly277Asp|893/1656|830/1338|277/445||,A|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|6/9|c.752G>A|p.Gly251Asp|808/1495|752/1260|251/419||,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding||c.*583G>A|||||2138|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript||n.*552G>A|||||1953|,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron||n.*551G>A|||||2362|,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay||n.*306G>A|||||230|,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding||c.*716G>A|||||1829|WARNING_TRANSCRIPT_NO_START_CODON 22 38211521 . T C . . ANN=C|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding||c.*583T>C|||||2214|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript||n.*552T>C|||||2029|,C|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron||n.*551T>C|||||2438|,C|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay||n.*306T>C|||||306|,C|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding||c.*716T>C|||||1905|WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|6/9|c.892+14T>C||||||,C|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|6/8|c.814+14T>C|||||| 22 38211649 . C G . . ANN=G|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding||c.*583C>G|||||2342|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript||n.*552C>G|||||2157|,G|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron||n.*551C>G|||||2566|,G|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay||n.*306C>G|||||434|,G|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding||c.*716C>G|||||2033|WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|6/9|c.893-21C>G||||||,G|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|6/8|c.815-21C>G|||||| 22 38211659 . C T . . ANN=T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding||c.*583C>T|||||2352|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript||n.*552C>T|||||2167|,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron||n.*551C>T|||||2576|,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay||n.*306C>T|||||444|,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding||c.*716C>T|||||2043|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|6/9|c.893-11C>T||||||,T|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|6/8|c.815-11C>T|||||| 22 38211711 . C T . . ANN=T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|7/10|c.934C>T|p.Arg312Trp|997/1656|934/1338|312/445||,T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|7/9|c.856C>T|p.Arg286Trp|912/1495|856/1260|286/419||,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding||c.*583C>T|||||2404|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript||n.*552C>T|||||2219|,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron||n.*551C>T|||||2628|,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay||n.*306C>T|||||496|,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding||c.*716C>T|||||2095|WARNING_TRANSCRIPT_NO_START_CODON 22 38211728 . A G . . ANN=G|synonymous_variant|LOW|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|7/10|c.951A>G|p.Pro317Pro|1014/1656|951/1338|317/445||,G|synonymous_variant|LOW|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|7/9|c.873A>G|p.Pro291Pro|929/1495|873/1260|291/419||,G|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding||c.*583A>G|||||2421|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript||n.*552A>G|||||2236|,G|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron||n.*551A>G|||||2645|,G|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay||n.*306A>G|||||513|,G|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding||c.*716A>G|||||2112|WARNING_TRANSCRIPT_NO_START_CODON 22 38211729 . T TA . . ANN=A|frameshift_variant&stop_gained|HIGH|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|7/10|c.953dupA|p.Tyr318fs|1017/1656|954/1338|318/445||INFO_REALIGN_3_PRIME,A|frameshift_variant&stop_gained|HIGH|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|7/9|c.875dupA|p.Tyr292fs|932/1495|876/1260|292/419||INFO_REALIGN_3_PRIME,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding||c.*583_*583insA|||||2423|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript||n.*552_*552insA|||||2238|,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron||n.*551_*551insA|||||2647|,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay||n.*306_*306insA|||||515|,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding||c.*716_*716insA|||||2114|WARNING_TRANSCRIPT_NO_START_CODON;LOF=(GCAT|ENSG00000100116|7|0.29);NMD=(GCAT|ENSG00000100116|7|0.29) 22 38211743 . C T . . ANN=T|synonymous_variant|LOW|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|7/10|c.966C>T|p.Asn322Asn|1029/1656|966/1338|322/445||,T|synonymous_variant|LOW|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|7/9|c.888C>T|p.Asn296Asn|944/1495|888/1260|296/419||,T|sequence_feature|LOW|GCAT|ENSG00000100116|region_of_interest:Pyridoxal_phosphate_binding|ENST00000323205|protein_coding|7/10|c.966C>T||||||,T|sequence_feature|LOW|GCAT|ENSG00000100116|region_of_interest:Pyridoxal_phosphate_binding|ENST00000248924|protein_coding|7/9|c.888C>T||||||,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding||c.*583C>T|||||2436|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript||n.*552C>T|||||2251|,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron||n.*551C>T|||||2660|,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay||n.*306C>T|||||528|,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding||c.*716C>T|||||2127|WARNING_TRANSCRIPT_NO_START_CODON 22 38212158 . G A . . ANN=A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding||c.*583G>A|||||2851|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript||n.*552G>A|||||2666|,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron||n.*551G>A|||||3075|,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay||n.*306G>A|||||943|,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding||c.*716G>A|||||2542|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|7/9|c.1065-49G>A||||||,A|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|7/8|c.987-49G>A|||||| 22 38212243 . C G . . ANN=G|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|8/10|c.1101C>G|p.Ile367Met|1164/1656|1101/1338|367/445||,G|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|8/9|c.1023C>G|p.Ile341Met|1079/1495|1023/1260|341/419||,G|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding||c.*583C>G|||||2936|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript||n.*552C>G|||||2751|,G|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron||n.*551C>G|||||3160|,G|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay||n.*306C>G|||||1028|,G|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding||c.*716C>G|||||2627|WARNING_TRANSCRIPT_NO_START_CODON 22 38212254 . G A . . ANN=A|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|8/10|c.1112G>A|p.Ser371Asn|1175/1656|1112/1338|371/445||,A|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|8/9|c.1034G>A|p.Ser345Asn|1090/1495|1034/1260|345/419||,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding||c.*583G>A|||||2947|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript||n.*552G>A|||||2762|,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron||n.*551G>A|||||3171|,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay||n.*306G>A|||||1039|,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding||c.*716G>A|||||2638|WARNING_TRANSCRIPT_NO_START_CODON 22 38212289 . C T . . ANN=T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|8/10|c.1147C>T|p.Arg383Trp|1210/1656|1147/1338|383/445||,T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|8/9|c.1069C>T|p.Arg357Trp|1125/1495|1069/1260|357/419||,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding||c.*583C>T|||||2982|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript||n.*552C>T|||||2797|,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron||n.*551C>T|||||3206|,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay||n.*306C>T|||||1074|,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding||c.*716C>T|||||2673|WARNING_TRANSCRIPT_NO_START_CODON 22 38212302 . G C . . ANN=C|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|8/10|c.1160G>C|p.Arg387Pro|1223/1656|1160/1338|387/445||,C|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|8/9|c.1082G>C|p.Arg361Pro|1138/1495|1082/1260|361/419||,C|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding||c.*583G>C|||||2995|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript||n.*552G>C|||||2810|,C|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron||n.*551G>C|||||3219|,C|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay||n.*306G>C|||||1087|,C|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding||c.*716G>C|||||2686|WARNING_TRANSCRIPT_NO_START_CODON 22 38212315 . C T . . ANN=T|synonymous_variant|LOW|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|8/10|c.1173C>T|p.Asp391Asp|1236/1656|1173/1338|391/445||,T|synonymous_variant|LOW|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|8/9|c.1095C>T|p.Asp365Asp|1151/1495|1095/1260|365/419||,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding||c.*583C>T|||||3008|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript||n.*552C>T|||||2823|,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron||n.*551C>T|||||3232|,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay||n.*306C>T|||||1100|,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding||c.*716C>T|||||2699|WARNING_TRANSCRIPT_NO_START_CODON 22 38212337 . G C . . ANN=C|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding||c.*583G>C|||||3030|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript||n.*552G>C|||||2845|,C|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron||n.*551G>C|||||3254|,C|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay||n.*306G>C|||||1122|,C|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding||c.*716G>C|||||2721|WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|8/9|c.1186+9G>C||||||,C|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|8/8|c.1108+9G>C|||||| 22 38212540 . G C . . ANN=C|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding||c.*583G>C|||||3233|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript||n.*552G>C|||||3048|,C|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron||n.*551G>C|||||3457|,C|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay||n.*306G>C|||||1325|,C|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding||c.*716G>C|||||2924|WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|8/9|c.1187-34G>C||||||,C|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|8/8|c.1109-34G>C|||||| 22 38212551 . G A . . ANN=A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding||c.*583G>A|||||3244|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript||n.*552G>A|||||3059|,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron||n.*551G>A|||||3468|,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay||n.*306G>A|||||1336|,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding||c.*716G>A|||||2935|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|8/9|c.1187-23G>A||||||,A|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|8/8|c.1109-23G>A|||||| 22 38212588 . G A . . ANN=A|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|9/10|c.1201G>A|p.Gly401Arg|1264/1656|1201/1338|401/445||,A|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|9/9|c.1123G>A|p.Gly375Arg|1179/1495|1123/1260|375/419||,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding||c.*583G>A|||||3281|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript||n.*552G>A|||||3096|,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron||n.*551G>A|||||3505|,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay||n.*306G>A|||||1373|,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding||c.*716G>A|||||2972|WARNING_TRANSCRIPT_NO_START_CODON 22 38212624 . C T . . ANN=T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|9/10|c.1237C>T|p.Arg413Trp|1300/1656|1237/1338|413/445||,T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|9/9|c.1159C>T|p.Arg387Trp|1215/1495|1159/1260|387/419||,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding||c.*583C>T|||||3317|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript||n.*552C>T|||||3132|,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron||n.*551C>T|||||3541|,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay||n.*306C>T|||||1409|,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding||c.*716C>T|||||3008|WARNING_TRANSCRIPT_NO_START_CODON 22 38212638 . G A . . ANN=A|synonymous_variant|LOW|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|9/10|c.1251G>A|p.Gln417Gln|1314/1656|1251/1338|417/445||,A|synonymous_variant|LOW|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|9/9|c.1173G>A|p.Gln391Gln|1229/1495|1173/1260|391/419||,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding||c.*583G>A|||||3331|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript||n.*552G>A|||||3146|,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron||n.*551G>A|||||3555|,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay||n.*306G>A|||||1423|,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding||c.*716G>A|||||3022|WARNING_TRANSCRIPT_NO_START_CODON 22 38212654 . A C . . ANN=C|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|9/10|c.1267A>C|p.Ser423Arg|1330/1656|1267/1338|423/445||,C|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|9/9|c.1189A>C|p.Ser397Arg|1245/1495|1189/1260|397/419||,C|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding||c.*583A>C|||||3347|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript||n.*552A>C|||||3162|,C|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron||n.*551A>C|||||3571|,C|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay||n.*306A>C|||||1439|,C|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding||c.*716A>C|||||3038|WARNING_TRANSCRIPT_NO_START_CODON 22 38212660 . G GA . . ANN=A|frameshift_variant|HIGH|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|9/10|c.1275dupA|p.Asp426fs|1339/1656|1276/1338|426/445||INFO_REALIGN_3_PRIME,A|frameshift_variant|HIGH|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|9/9|c.1197dupA|p.Asp400fs|1254/1495|1198/1260|400/419||INFO_REALIGN_3_PRIME,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding||c.*583_*583insA|||||3354|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript||n.*552_*552insA|||||3169|,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron||n.*551_*551insA|||||3578|,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay||n.*306_*306insA|||||1446|,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding||c.*716_*716insA|||||3045|WARNING_TRANSCRIPT_NO_START_CODON 22 38212673 . G A . . ANN=A|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|9/10|c.1286G>A|p.Arg429His|1349/1656|1286/1338|429/445||,A|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|9/9|c.1208G>A|p.Arg403His|1264/1495|1208/1260|403/419||,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding||c.*583G>A|||||3366|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript||n.*552G>A|||||3181|,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron||n.*551G>A|||||3590|,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay||n.*306G>A|||||1458|,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding||c.*716G>A|||||3057|WARNING_TRANSCRIPT_NO_START_CODON 22 38212762 . A G . . ANN=G|3_prime_UTR_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|9/9|c.*37A>G|||||37|,G|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding||c.*583A>G|||||3455|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript||n.*552A>G|||||3270|,G|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron||n.*551A>G|||||3679|,G|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay||n.*306A>G|||||1547|,G|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding||c.*716A>G|||||3146|WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|9/9|c.*7+30A>G|||||| 22 38219401 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|GALR3|ENSG00000128310|transcript|ENST00000249041|protein_coding|1/2|c.-13G>A|||||13| 22 38219421 . A C . . ANN=C|missense_variant|MODERATE|GALR3|ENSG00000128310|transcript|ENST00000249041|protein_coding|1/2|c.8A>C|p.Asp3Ala|33/1157|8/1107|3/368||,C|sequence_feature|LOW|GALR3|ENSG00000128310|topological_domain:Extracellular|ENST00000249041|protein_coding|1/2|c.8A>C|||||| 22 38219452 . G A . . ANN=A|synonymous_variant|LOW|GALR3|ENSG00000128310|transcript|ENST00000249041|protein_coding|1/2|c.39G>A|p.Gly13Gly|64/1157|39/1107|13/368||,A|sequence_feature|LOW|GALR3|ENSG00000128310|topological_domain:Extracellular|ENST00000249041|protein_coding|1/2|c.39G>A|||||| 22 38219455 . T A,C,G . . ANN=A|missense_variant|MODERATE|GALR3|ENSG00000128310|transcript|ENST00000249041|protein_coding|1/2|c.42T>A|p.Ser14Arg|67/1157|42/1107|14/368||,G|missense_variant|MODERATE|GALR3|ENSG00000128310|transcript|ENST00000249041|protein_coding|1/2|c.42T>G|p.Ser14Arg|67/1157|42/1107|14/368||,C|synonymous_variant|LOW|GALR3|ENSG00000128310|transcript|ENST00000249041|protein_coding|1/2|c.42T>C|p.Ser14Ser|67/1157|42/1107|14/368||,A|sequence_feature|LOW|GALR3|ENSG00000128310|topological_domain:Extracellular|ENST00000249041|protein_coding|1/2|c.42T>A||||||,C|sequence_feature|LOW|GALR3|ENSG00000128310|topological_domain:Extracellular|ENST00000249041|protein_coding|1/2|c.42T>C||||||,G|sequence_feature|LOW|GALR3|ENSG00000128310|topological_domain:Extracellular|ENST00000249041|protein_coding|1/2|c.42T>G|||||| 22 38219465 . G A,T . . ANN=A|missense_variant|MODERATE|GALR3|ENSG00000128310|transcript|ENST00000249041|protein_coding|1/2|c.52G>A|p.Val18Met|77/1157|52/1107|18/368||,T|missense_variant|MODERATE|GALR3|ENSG00000128310|transcript|ENST00000249041|protein_coding|1/2|c.52G>T|p.Val18Leu|77/1157|52/1107|18/368||,A|sequence_feature|LOW|GALR3|ENSG00000128310|topological_domain:Extracellular|ENST00000249041|protein_coding|1/2|c.52G>A||||||,T|sequence_feature|LOW|GALR3|ENSG00000128310|topological_domain:Extracellular|ENST00000249041|protein_coding|1/2|c.52G>T|||||| 22 38219551 . C T . . ANN=T|synonymous_variant|LOW|GALR3|ENSG00000128310|transcript|ENST00000249041|protein_coding|1/2|c.138C>T|p.Gly46Gly|163/1157|138/1107|46/368||,T|sequence_feature|LOW|GALR3|ENSG00000128310|topological_domain:Cytoplasmic|ENST00000249041|protein_coding|1/2|c.138C>T|||||| 22 38219570 . C G . . ANN=G|missense_variant|MODERATE|GALR3|ENSG00000128310|transcript|ENST00000249041|protein_coding|1/2|c.157C>G|p.Pro53Ala|182/1157|157/1107|53/368||,G|sequence_feature|LOW|GALR3|ENSG00000128310|topological_domain:Cytoplasmic|ENST00000249041|protein_coding|1/2|c.157C>G|||||| 22 38219622 . G A,C,T . . ANN=A|missense_variant|MODERATE|GALR3|ENSG00000128310|transcript|ENST00000249041|protein_coding|1/2|c.209G>A|p.Cys70Tyr|234/1157|209/1107|70/368||,C|missense_variant|MODERATE|GALR3|ENSG00000128310|transcript|ENST00000249041|protein_coding|1/2|c.209G>C|p.Cys70Ser|234/1157|209/1107|70/368||,T|missense_variant|MODERATE|GALR3|ENSG00000128310|transcript|ENST00000249041|protein_coding|1/2|c.209G>T|p.Cys70Phe|234/1157|209/1107|70/368||,A|sequence_feature|LOW|GALR3|ENSG00000128310|transmembrane_region:Transmembrane_region|ENST00000249041|protein_coding|1/2|c.209G>A||||||,C|sequence_feature|LOW|GALR3|ENSG00000128310|transmembrane_region:Transmembrane_region|ENST00000249041|protein_coding|1/2|c.209G>C||||||,T|sequence_feature|LOW|GALR3|ENSG00000128310|transmembrane_region:Transmembrane_region|ENST00000249041|protein_coding|1/2|c.209G>T|||||| 22 38219639 . G C . . ANN=C|missense_variant|MODERATE|GALR3|ENSG00000128310|transcript|ENST00000249041|protein_coding|1/2|c.226G>C|p.Val76Leu|251/1157|226/1107|76/368||,C|sequence_feature|LOW|GALR3|ENSG00000128310|transmembrane_region:Transmembrane_region|ENST00000249041|protein_coding|1/2|c.226G>C|||||| 22 38219664 . C T . . ANN=T|missense_variant|MODERATE|GALR3|ENSG00000128310|transcript|ENST00000249041|protein_coding|1/2|c.251C>T|p.Thr84Met|276/1157|251/1107|84/368||,T|sequence_feature|LOW|GALR3|ENSG00000128310|topological_domain:Extracellular|ENST00000249041|protein_coding|1/2|c.251C>T|||||| 22 38219690 . C G . . ANN=G|missense_variant|MODERATE|GALR3|ENSG00000128310|transcript|ENST00000249041|protein_coding|1/2|c.277C>G|p.Leu93Val|302/1157|277/1107|93/368||,G|sequence_feature|LOW|GALR3|ENSG00000128310|topological_domain:Extracellular|ENST00000249041|protein_coding|1/2|c.277C>G|||||| 22 38219776 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|GALR3|ENSG00000128310|transcript|ENST00000249041|protein_coding|1/1|c.359+4C>T||||||,T|sequence_feature|LOW|GALR3|ENSG00000128310|disulfide_bond|ENST00000249041|protein_coding|2/2|c.359+4C>T||||||,T|sequence_feature|LOW|GALR3|ENSG00000128310|disulfide_bond|ENST00000249041|protein_coding|1/2|c.359+4C>T||||||,T|sequence_feature|LOW|GALR3|ENSG00000128310|topological_domain:Cytoplasmic|ENST00000249041|protein_coding|2/2|c.359+4C>T||||||,T|sequence_feature|LOW|GALR3|ENSG00000128310|topological_domain:Cytoplasmic|ENST00000249041|protein_coding|1/2|c.359+4C>T|||||| 22 38219787 . G C . . ANN=C|sequence_feature|LOW|GALR3|ENSG00000128310|disulfide_bond|ENST00000249041|protein_coding|2/2|c.359+15G>C||||||,C|sequence_feature|LOW|GALR3|ENSG00000128310|disulfide_bond|ENST00000249041|protein_coding|1/2|c.359+15G>C||||||,C|sequence_feature|LOW|GALR3|ENSG00000128310|topological_domain:Cytoplasmic|ENST00000249041|protein_coding|2/2|c.359+15G>C||||||,C|sequence_feature|LOW|GALR3|ENSG00000128310|topological_domain:Cytoplasmic|ENST00000249041|protein_coding|1/2|c.359+15G>C||||||,C|intron_variant|MODIFIER|GALR3|ENSG00000128310|transcript|ENST00000249041|protein_coding|1/1|c.359+15G>C|||||| 22 38220948 . A C . . ANN=C|missense_variant|MODERATE|GALR3|ENSG00000128310|transcript|ENST00000249041|protein_coding|2/2|c.578A>C|p.Tyr193Ser|603/1157|578/1107|193/368||,C|sequence_feature|LOW|GALR3|ENSG00000128310|transmembrane_region:Transmembrane_region|ENST00000249041|protein_coding|2/2|c.578A>C|||||| 22 38220964 . T C . . ANN=C|synonymous_variant|LOW|GALR3|ENSG00000128310|transcript|ENST00000249041|protein_coding|2/2|c.594T>C|p.Ala198Ala|619/1157|594/1107|198/368||,C|sequence_feature|LOW|GALR3|ENSG00000128310|transmembrane_region:Transmembrane_region|ENST00000249041|protein_coding|2/2|c.594T>C|||||| 22 38221072 . G A . . ANN=A|synonymous_variant|LOW|GALR3|ENSG00000128310|transcript|ENST00000249041|protein_coding|2/2|c.702G>A|p.Gly234Gly|727/1157|702/1107|234/368||,A|sequence_feature|LOW|GALR3|ENSG00000128310|topological_domain:Cytoplasmic|ENST00000249041|protein_coding|2/2|c.702G>A|||||| 22 38221117 . T C . . ANN=C|synonymous_variant|LOW|GALR3|ENSG00000128310|transcript|ENST00000249041|protein_coding|2/2|c.747T>C|p.Gly249Gly|772/1157|747/1107|249/368||,C|sequence_feature|LOW|GALR3|ENSG00000128310|transmembrane_region:Transmembrane_region|ENST00000249041|protein_coding|2/2|c.747T>C|||||| 22 38221122 . A C . . ANN=C|missense_variant|MODERATE|GALR3|ENSG00000128310|transcript|ENST00000249041|protein_coding|2/2|c.752A>C|p.His251Pro|777/1157|752/1107|251/368||,C|sequence_feature|LOW|GALR3|ENSG00000128310|transmembrane_region:Transmembrane_region|ENST00000249041|protein_coding|2/2|c.752A>C|||||| 22 38221141 . C T . . ANN=T|synonymous_variant|LOW|GALR3|ENSG00000128310|transcript|ENST00000249041|protein_coding|2/2|c.771C>T|p.Cys257Cys|796/1157|771/1107|257/368||,T|sequence_feature|LOW|GALR3|ENSG00000128310|transmembrane_region:Transmembrane_region|ENST00000249041|protein_coding|2/2|c.771C>T|||||| 22 38221408 . T G . . ANN=G|synonymous_variant|LOW|GALR3|ENSG00000128310|transcript|ENST00000249041|protein_coding|2/2|c.1038T>G|p.Gly346Gly|1063/1157|1038/1107|346/368||,G|sequence_feature|LOW|GALR3|ENSG00000128310|topological_domain:Cytoplasmic|ENST00000249041|protein_coding|2/2|c.1038T>G|||||| 22 38221461 . C G,T . . ANN=G|missense_variant|MODERATE|GALR3|ENSG00000128310|transcript|ENST00000249041|protein_coding|2/2|c.1091C>G|p.Ala364Gly|1116/1157|1091/1107|364/368||,T|missense_variant|MODERATE|GALR3|ENSG00000128310|transcript|ENST00000249041|protein_coding|2/2|c.1091C>T|p.Ala364Val|1116/1157|1091/1107|364/368||,G|sequence_feature|LOW|GALR3|ENSG00000128310|topological_domain:Cytoplasmic|ENST00000249041|protein_coding|2/2|c.1091C>G||||||,T|sequence_feature|LOW|GALR3|ENSG00000128310|topological_domain:Cytoplasmic|ENST00000249041|protein_coding|2/2|c.1091C>T|||||| 22 38227917 . G C . . ANN=C|3_prime_UTR_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000215941|protein_coding|8/8|c.*33C>G|||||33|,C|3_prime_UTR_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000406423|protein_coding|8/8|c.*33C>G|||||33|,C|3_prime_UTR_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000609454|protein_coding|6/6|c.*33C>G|||||33|,C|downstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000411961|protein_coding||c.*938C>G|||||25|,C|downstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000458278|protein_coding||c.*623C>G|||||60|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000407117|nonsense_mediated_decay||n.*789C>G|||||69|,C|downstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000464849|processed_transcript||n.*456C>G|||||766|,C|downstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000413497|nonsense_mediated_decay||n.*536C>G|||||1083|,C|downstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000424350|protein_coding||c.*597C>G|||||1099|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000434930|protein_coding||c.*735C>G|||||1131|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000498417|processed_transcript|5/5|n.1349C>G|||||| 22 38228634 . TGC T . . ANN=|splice_region_variant&intron_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000215941|protein_coding|7/7|c.828+8_828+9delGC||||||,|splice_region_variant&intron_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000498417|processed_transcript|4/4|n.1241+8_1241+9delGC||||||,|splice_region_variant&intron_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000406423|protein_coding|7/7|c.468+8_468+9delGC||||||,|splice_region_variant&intron_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000609454|protein_coding|5/5|c.249+8_249+9delGC||||||,|splice_region_variant&intron_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000411961|protein_coding|6/6|c.780+8_780+9delGC||||||,|splice_region_variant&intron_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000458278|protein_coding|6/6|c.573+8_573+9delGC||||||WARNING_TRANSCRIPT_NO_START_CODON,|splice_region_variant&intron_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000407117|nonsense_mediated_decay|7/7|n.429+8_429+9delGC||||||,|downstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000464849|processed_transcript||n.*456_*456delGC|||||48|,|downstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000413497|nonsense_mediated_decay||n.*536_*536delGC|||||365|,|downstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000424350|protein_coding||c.*597_*597delGC|||||381|WARNING_TRANSCRIPT_NO_STOP_CODON,|downstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000434930|protein_coding||c.*735_*735delGC|||||413|WARNING_TRANSCRIPT_INCOMPLETE 22 38228644 . C T . . ANN=T|splice_region_variant&synonymous_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000215941|protein_coding|7/8|c.828G>A|p.Gln276Gln|1021/2184|828/903|276/300||,T|splice_region_variant&non_coding_exon_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000498417|processed_transcript|4/5|n.1241G>A||||||,T|splice_region_variant&synonymous_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000406423|protein_coding|7/8|c.468G>A|p.Gln156Gln|761/954|468/543|156/180||,T|splice_region_variant&synonymous_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000609454|protein_coding|5/6|c.249G>A|p.Gln83Gln|667/825|249/324|83/107||,T|splice_region_variant&synonymous_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000411961|protein_coding|6/7|c.780G>A|p.Gln260Gln|863/946|780/855|260/284||,T|splice_region_variant&synonymous_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000458278|protein_coding|6/7|c.573G>A|p.Gln191Gln|575/623|573/621|191/206||WARNING_TRANSCRIPT_NO_START_CODON,T|splice_region_variant&non_coding_exon_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000407117|nonsense_mediated_decay|7/8|n.429G>A||||||,T|downstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000464849|processed_transcript||n.*456G>A|||||39|,T|downstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000413497|nonsense_mediated_decay||n.*536G>A|||||356|,T|downstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000424350|protein_coding||c.*597G>A|||||372|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000434930|protein_coding||c.*735G>A|||||404|WARNING_TRANSCRIPT_INCOMPLETE 22 38228673 . G A . . ANN=A|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000215941|protein_coding|7/8|c.799C>T|p.Arg267Cys|992/2184|799/903|267/300||,A|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000406423|protein_coding|7/8|c.439C>T|p.Arg147Cys|732/954|439/543|147/180||,A|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000609454|protein_coding|5/6|c.220C>T|p.Arg74Cys|638/825|220/324|74/107||,A|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000411961|protein_coding|6/7|c.751C>T|p.Arg251Cys|834/946|751/855|251/284||,A|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000458278|protein_coding|6/7|c.544C>T|p.Arg182Cys|546/623|544/621|182/206||WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000464849|processed_transcript||n.*456C>T|||||10|,A|downstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000413497|nonsense_mediated_decay||n.*536C>T|||||327|,A|downstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000424350|protein_coding||c.*597C>T|||||343|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000434930|protein_coding||c.*735C>T|||||375|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000498417|processed_transcript|4/5|n.1212C>T||||||,A|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000407117|nonsense_mediated_decay|7/8|n.400C>T|||||| 22 38228925 . T A . . ANN=A|sequence_feature|LOW|ANKRD54|ENSG00000100124|repeat:ANK_4|ENST00000215941|protein_coding|7/8|c.720+40A>T||||||,A|sequence_feature|LOW|ANKRD54|ENSG00000100124|repeat:ANK_4|ENST00000215941|protein_coding|6/8|c.720+40A>T||||||,A|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|4/8|c.720+40A>T||||||,A|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|3/8|c.720+40A>T||||||,A|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|7/8|c.720+40A>T||||||,A|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|5/8|c.720+40A>T||||||,A|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|6/8|c.720+40A>T||||||,A|downstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000413497|nonsense_mediated_decay||n.*536A>T|||||75|,A|downstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000424350|protein_coding||c.*597A>T|||||91|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000434930|protein_coding||c.*735A>T|||||123|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000215941|protein_coding|6/7|c.720+40A>T||||||,A|intron_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000498417|processed_transcript|3/4|n.1133+40A>T||||||,A|intron_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000406423|protein_coding|6/7|c.360+40A>T||||||,A|intron_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000609454|protein_coding|4/5|c.142-174A>T||||||,A|intron_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000411961|protein_coding|5/6|c.672+40A>T||||||,A|intron_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000458278|protein_coding|5/6|c.465+40A>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000407117|nonsense_mediated_decay|6/7|n.321+40A>T||||||,A|intron_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000464849|processed_transcript|5/5|n.387+40A>T|||||| 22 38228981 . C T . . ANN=T|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000215941|protein_coding|6/8|c.704G>A|p.Arg235His|897/2184|704/903|235/300||,T|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000406423|protein_coding|6/8|c.344G>A|p.Arg115His|637/954|344/543|115/180||,T|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000411961|protein_coding|5/7|c.656G>A|p.Arg219His|739/946|656/855|219/284||,T|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000458278|protein_coding|5/7|c.449G>A|p.Arg150His|451/623|449/621|150/206||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|ANKRD54|ENSG00000100124|repeat:ANK_4|ENST00000215941|protein_coding|7/8|c.704G>A||||||,T|sequence_feature|LOW|ANKRD54|ENSG00000100124|repeat:ANK_4|ENST00000215941|protein_coding|6/8|c.704G>A||||||,T|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|4/8|c.704G>A||||||,T|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|3/8|c.704G>A||||||,T|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|7/8|c.704G>A||||||,T|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|5/8|c.704G>A||||||,T|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|6/8|c.704G>A||||||,T|downstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000413497|nonsense_mediated_decay||n.*536G>A|||||19|,T|downstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000424350|protein_coding||c.*597G>A|||||35|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000434930|protein_coding||c.*735G>A|||||67|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000609454|protein_coding|4/5|c.141+185G>A||||||,T|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000498417|processed_transcript|3/5|n.1117G>A||||||,T|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000407117|nonsense_mediated_decay|6/8|n.305G>A||||||,T|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000464849|processed_transcript|5/6|n.371G>A|||||| 22 38229019 . G C . . ANN=C|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000215941|protein_coding|6/8|c.666C>G|p.Ile222Met|859/2184|666/903|222/300||,C|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000406423|protein_coding|6/8|c.306C>G|p.Ile102Met|599/954|306/543|102/180||,C|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000411961|protein_coding|5/7|c.618C>G|p.Ile206Met|701/946|618/855|206/284||,C|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000458278|protein_coding|5/7|c.411C>G|p.Ile137Met|413/623|411/621|137/206||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000424350|protein_coding|6/6|c.267C>G|p.Ile89Met|594/597|267/270|89/89||WARNING_TRANSCRIPT_NO_STOP_CODON,C|sequence_feature|LOW|ANKRD54|ENSG00000100124|repeat:ANK_4|ENST00000215941|protein_coding|7/8|c.666C>G||||||,C|sequence_feature|LOW|ANKRD54|ENSG00000100124|repeat:ANK_4|ENST00000215941|protein_coding|6/8|c.666C>G||||||,C|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|4/8|c.666C>G||||||,C|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|3/8|c.666C>G||||||,C|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|7/8|c.666C>G||||||,C|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|5/8|c.666C>G||||||,C|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|6/8|c.666C>G||||||,C|3_prime_UTR_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000413497|nonsense_mediated_decay|5/5|n.*239C>G|||||716|,C|downstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000434930|protein_coding||c.*735C>G|||||29|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000609454|protein_coding|4/5|c.141+147C>G||||||,C|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000498417|processed_transcript|3/5|n.1079C>G||||||,C|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000407117|nonsense_mediated_decay|6/8|n.267C>G||||||,C|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000464849|processed_transcript|5/6|n.333C>G||||||,C|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000413497|nonsense_mediated_decay|5/5|n.*239C>G|||||| 22 38229057 . G A . . ANN=A|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000215941|protein_coding|6/8|c.628C>T|p.Arg210Cys|821/2184|628/903|210/300||,A|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000406423|protein_coding|6/8|c.268C>T|p.Arg90Cys|561/954|268/543|90/180||,A|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000411961|protein_coding|5/7|c.580C>T|p.Arg194Cys|663/946|580/855|194/284||,A|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000458278|protein_coding|5/7|c.373C>T|p.Arg125Cys|375/623|373/621|125/206||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000424350|protein_coding|6/6|c.229C>T|p.Arg77Cys|556/597|229/270|77/89||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000434930|protein_coding|6/6|c.641C>T|p.Ser214Leu|726/735|641/650|214/215||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|ANKRD54|ENSG00000100124|repeat:ANK_4|ENST00000215941|protein_coding|7/8|c.628C>T||||||,A|sequence_feature|LOW|ANKRD54|ENSG00000100124|repeat:ANK_4|ENST00000215941|protein_coding|6/8|c.628C>T||||||,A|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|4/8|c.628C>T||||||,A|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|3/8|c.628C>T||||||,A|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|7/8|c.628C>T||||||,A|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|5/8|c.628C>T||||||,A|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|6/8|c.628C>T||||||,A|3_prime_UTR_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000413497|nonsense_mediated_decay|5/5|n.*201C>T|||||678|,A|intron_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000609454|protein_coding|4/5|c.141+109C>T||||||,A|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000498417|processed_transcript|3/5|n.1041C>T||||||,A|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000407117|nonsense_mediated_decay|6/8|n.229C>T||||||,A|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000464849|processed_transcript|5/6|n.295C>T||||||,A|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000413497|nonsense_mediated_decay|5/5|n.*201C>T|||||| 22 38229061 . A G . . ANN=G|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000434930|protein_coding|6/6|c.637T>C|p.Trp213Arg|722/735|637/650|213/215||WARNING_TRANSCRIPT_INCOMPLETE,G|synonymous_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000215941|protein_coding|6/8|c.624T>C|p.Ala208Ala|817/2184|624/903|208/300||,G|synonymous_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000406423|protein_coding|6/8|c.264T>C|p.Ala88Ala|557/954|264/543|88/180||,G|synonymous_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000411961|protein_coding|5/7|c.576T>C|p.Ala192Ala|659/946|576/855|192/284||,G|synonymous_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000458278|protein_coding|5/7|c.369T>C|p.Ala123Ala|371/623|369/621|123/206||WARNING_TRANSCRIPT_NO_START_CODON,G|synonymous_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000424350|protein_coding|6/6|c.225T>C|p.Ala75Ala|552/597|225/270|75/89||WARNING_TRANSCRIPT_NO_STOP_CODON,G|sequence_feature|LOW|ANKRD54|ENSG00000100124|repeat:ANK_4|ENST00000215941|protein_coding|7/8|c.624T>C||||||,G|sequence_feature|LOW|ANKRD54|ENSG00000100124|repeat:ANK_4|ENST00000215941|protein_coding|6/8|c.624T>C||||||,G|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|4/8|c.624T>C||||||,G|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|3/8|c.624T>C||||||,G|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|7/8|c.624T>C||||||,G|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|5/8|c.624T>C||||||,G|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|6/8|c.624T>C||||||,G|3_prime_UTR_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000413497|nonsense_mediated_decay|5/5|n.*197T>C|||||674|,G|intron_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000609454|protein_coding|4/5|c.141+105T>C||||||,G|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000498417|processed_transcript|3/5|n.1037T>C||||||,G|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000407117|nonsense_mediated_decay|6/8|n.225T>C||||||,G|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000464849|processed_transcript|5/6|n.291T>C||||||,G|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000413497|nonsense_mediated_decay|5/5|n.*197T>C|||||| 22 38229083 . C T . . ANN=T|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000215941|protein_coding|6/8|c.602G>A|p.Arg201His|795/2184|602/903|201/300||,T|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000406423|protein_coding|6/8|c.242G>A|p.Arg81His|535/954|242/543|81/180||,T|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000411961|protein_coding|5/7|c.554G>A|p.Arg185His|637/946|554/855|185/284||,T|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000458278|protein_coding|5/7|c.347G>A|p.Arg116His|349/623|347/621|116/206||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000424350|protein_coding|6/6|c.203G>A|p.Arg68His|530/597|203/270|68/89||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000434930|protein_coding|6/6|c.615G>A|p.Pro205Pro|700/735|615/650|205/215||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|4/8|c.602G>A||||||,T|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|3/8|c.602G>A||||||,T|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|7/8|c.602G>A||||||,T|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|5/8|c.602G>A||||||,T|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|6/8|c.602G>A||||||,T|sequence_feature|LOW|ANKRD54|ENSG00000100124|repeat:ANK_3|ENST00000215941|protein_coding|4/8|c.602G>A||||||,T|sequence_feature|LOW|ANKRD54|ENSG00000100124|repeat:ANK_3|ENST00000215941|protein_coding|5/8|c.602G>A||||||,T|sequence_feature|LOW|ANKRD54|ENSG00000100124|repeat:ANK_3|ENST00000215941|protein_coding|6/8|c.602G>A||||||,T|3_prime_UTR_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000413497|nonsense_mediated_decay|5/5|n.*175G>A|||||652|,T|intron_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000609454|protein_coding|4/5|c.141+83G>A||||||,T|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000498417|processed_transcript|3/5|n.1015G>A||||||,T|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000407117|nonsense_mediated_decay|6/8|n.203G>A||||||,T|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000464849|processed_transcript|5/6|n.269G>A||||||,T|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000413497|nonsense_mediated_decay|5/5|n.*175G>A|||||| 22 38229191 . A G . . ANN=G|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000609454|protein_coding|4/6|c.116T>C|p.Leu39Pro|534/825|116/324|39/107||,G|synonymous_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000215941|protein_coding|5/8|c.570T>C|p.Pro190Pro|763/2184|570/903|190/300||,G|synonymous_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000406423|protein_coding|5/8|c.210T>C|p.Pro70Pro|503/954|210/543|70/180||,G|synonymous_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000411961|protein_coding|4/7|c.522T>C|p.Pro174Pro|605/946|522/855|174/284||,G|synonymous_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000424350|protein_coding|5/6|c.171T>C|p.Pro57Pro|498/597|171/270|57/89||WARNING_TRANSCRIPT_NO_STOP_CODON,G|synonymous_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000434930|protein_coding|5/6|c.570T>C|p.Pro190Pro|655/735|570/650|190/215||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|4/8|c.570T>C||||||,G|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|3/8|c.570T>C||||||,G|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|7/8|c.570T>C||||||,G|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|5/8|c.570T>C||||||,G|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|6/8|c.570T>C||||||,G|sequence_feature|LOW|ANKRD54|ENSG00000100124|repeat:ANK_3|ENST00000215941|protein_coding|4/8|c.570T>C||||||,G|sequence_feature|LOW|ANKRD54|ENSG00000100124|repeat:ANK_3|ENST00000215941|protein_coding|5/8|c.570T>C||||||,G|sequence_feature|LOW|ANKRD54|ENSG00000100124|repeat:ANK_3|ENST00000215941|protein_coding|6/8|c.570T>C||||||,G|3_prime_UTR_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000413497|nonsense_mediated_decay|5/5|n.*67T>C|||||544|,G|intron_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000458278|protein_coding|4/6|c.314-75T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000498417|processed_transcript|3/5|n.907T>C||||||,G|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000407117|nonsense_mediated_decay|5/8|n.171T>C||||||,G|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000464849|processed_transcript|4/6|n.237T>C||||||,G|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000413497|nonsense_mediated_decay|5/5|n.*67T>C|||||| 22 38229752 . G A . . ANN=A|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000609454|protein_coding|3/6|c.32C>T|p.Ser11Phe|450/825|32/324|11/107||,A|synonymous_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000215941|protein_coding|4/8|c.486C>T|p.Leu162Leu|679/2184|486/903|162/300||,A|synonymous_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000406423|protein_coding|4/8|c.126C>T|p.Leu42Leu|419/954|126/543|42/180||,A|synonymous_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000411961|protein_coding|3/7|c.438C>T|p.Leu146Leu|521/946|438/855|146/284||,A|synonymous_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000458278|protein_coding|4/7|c.252C>T|p.Leu84Leu|254/623|252/621|84/206||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000424350|protein_coding|4/6|c.87C>T|p.Leu29Leu|414/597|87/270|29/89||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000434930|protein_coding|4/6|c.486C>T|p.Leu162Leu|571/735|486/650|162/215||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|4/8|c.486C>T||||||,A|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|3/8|c.486C>T||||||,A|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|7/8|c.486C>T||||||,A|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|5/8|c.486C>T||||||,A|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|6/8|c.486C>T||||||,A|sequence_feature|LOW|ANKRD54|ENSG00000100124|repeat:ANK_2|ENST00000215941|protein_coding|4/8|c.486C>T||||||,A|sequence_feature|LOW|ANKRD54|ENSG00000100124|repeat:ANK_2|ENST00000215941|protein_coding|3/8|c.486C>T||||||,A|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000498417|processed_transcript|2/5|n.823C>T||||||,A|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000407117|nonsense_mediated_decay|4/8|n.87C>T||||||,A|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000464849|processed_transcript|3/6|n.153C>T||||||,A|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000413497|nonsense_mediated_decay|4/5|n.517C>T|||||| 22 38234573 . A G . . ANN=G|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000215941|protein_coding|3/8|c.409T>C|p.Cys137Arg|602/2184|409/903|137/300||,G|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000406423|protein_coding|3/8|c.49T>C|p.Cys17Arg|342/954|49/543|17/180||,G|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000411961|protein_coding|2/7|c.361T>C|p.Cys121Arg|444/946|361/855|121/284||,G|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000458278|protein_coding|3/7|c.175T>C|p.Cys59Arg|177/623|175/621|59/206||WARNING_TRANSCRIPT_NO_START_CODON,G|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000434930|protein_coding|3/6|c.409T>C|p.Cys137Arg|494/735|409/650|137/215||WARNING_TRANSCRIPT_INCOMPLETE,G|synonymous_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000424350|protein_coding|3/6|c.15T>C|p.Pro5Pro|342/597|15/270|5/89||WARNING_TRANSCRIPT_NO_STOP_CODON,G|sequence_feature|LOW|ANKRD54|ENSG00000100124|repeat:ANK_1|ENST00000215941|protein_coding|3/8|c.409T>C||||||,G|sequence_feature|LOW|ANKRD54|ENSG00000100124|repeat:ANK_1|ENST00000215941|protein_coding|2/8|c.409T>C||||||,G|sequence_feature|LOW|ANKRD54|ENSG00000100124|repeat:ANK_1|ENST00000215941|protein_coding|1/8|c.409T>C||||||,G|upstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000498417|processed_transcript||n.-1T>C|||||3838|,G|intron_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000609454|protein_coding|2/5|c.21+1621T>C||||||,G|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000407117|nonsense_mediated_decay|3/8|n.15T>C||||||,G|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000464849|processed_transcript|2/6|n.76T>C||||||,G|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000413497|nonsense_mediated_decay|3/5|n.445T>C|||||| 22 38234580 . C A . . ANN=A|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000424350|protein_coding|3/6|c.8G>T|p.Arg3Leu|335/597|8/270|3/89||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000215941|protein_coding|3/8|c.402G>T|p.Ala134Ala|595/2184|402/903|134/300||,A|synonymous_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000406423|protein_coding|3/8|c.42G>T|p.Ala14Ala|335/954|42/543|14/180||,A|synonymous_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000411961|protein_coding|2/7|c.354G>T|p.Ala118Ala|437/946|354/855|118/284||,A|synonymous_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000458278|protein_coding|3/7|c.168G>T|p.Ala56Ala|170/623|168/621|56/206||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000434930|protein_coding|3/6|c.402G>T|p.Ala134Ala|487/735|402/650|134/215||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|ANKRD54|ENSG00000100124|repeat:ANK_1|ENST00000215941|protein_coding|3/8|c.402G>T||||||,A|sequence_feature|LOW|ANKRD54|ENSG00000100124|repeat:ANK_1|ENST00000215941|protein_coding|2/8|c.402G>T||||||,A|sequence_feature|LOW|ANKRD54|ENSG00000100124|repeat:ANK_1|ENST00000215941|protein_coding|1/8|c.402G>T||||||,A|upstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000498417|processed_transcript||n.-1G>T|||||3845|,A|intron_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000609454|protein_coding|2/5|c.21+1614G>T||||||,A|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000407117|nonsense_mediated_decay|3/8|n.8G>T||||||,A|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000464849|processed_transcript|2/6|n.69G>T||||||,A|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000413497|nonsense_mediated_decay|3/5|n.438G>T|||||| 22 38234648 . G A . . ANN=A|sequence_feature|LOW|ANKRD54|ENSG00000100124|repeat:ANK_1|ENST00000215941|protein_coding|3/8|c.377-43C>T||||||,A|sequence_feature|LOW|ANKRD54|ENSG00000100124|repeat:ANK_1|ENST00000215941|protein_coding|2/8|c.377-43C>T||||||,A|sequence_feature|LOW|ANKRD54|ENSG00000100124|repeat:ANK_1|ENST00000215941|protein_coding|1/8|c.377-43C>T||||||,A|upstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000498417|processed_transcript||n.-1C>T|||||3913|,A|intron_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000215941|protein_coding|2/7|c.377-43C>T||||||,A|intron_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000406423|protein_coding|2/7|c.22-48C>T||||||,A|intron_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000609454|protein_coding|2/5|c.21+1546C>T||||||,A|intron_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000411961|protein_coding|1/6|c.329-43C>T||||||,A|intron_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000458278|protein_coding|2/6|c.143-43C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000407117|nonsense_mediated_decay|2/7|n.-13-48C>T||||||,A|intron_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000464849|processed_transcript|1/5|n.49-48C>T||||||,A|intron_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000413497|nonsense_mediated_decay|2/4|n.413-43C>T||||||,A|intron_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000424350|protein_coding|2/5|c.-13-48C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000434930|protein_coding|2/5|c.377-43C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 38236214 . T C . . ANN=C|start_lost|HIGH|ANKRD54|ENSG00000100124|transcript|ENST00000406423|protein_coding|2/8|c.1A>G|p.Met1?|294/954|1/543|1/180||,C|start_lost|HIGH|ANKRD54|ENSG00000100124|transcript|ENST00000609454|protein_coding|2/6|c.1A>G|p.Met1?|419/825|1/324|1/107||,C|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000215941|protein_coding|2/8|c.356A>G|p.Asn119Ser|549/2184|356/903|119/300||,C|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000458278|protein_coding|2/7|c.122A>G|p.Asn41Ser|124/623|122/621|41/206||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000434930|protein_coding|2/6|c.356A>G|p.Asn119Ser|441/735|356/650|119/215||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|ANKRD54|ENSG00000100124|repeat:ANK_1|ENST00000215941|protein_coding|3/8|c.356A>G||||||,C|sequence_feature|LOW|ANKRD54|ENSG00000100124|repeat:ANK_1|ENST00000215941|protein_coding|2/8|c.356A>G||||||,C|sequence_feature|LOW|ANKRD54|ENSG00000100124|repeat:ANK_1|ENST00000215941|protein_coding|1/8|c.356A>G||||||,C|5_prime_UTR_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000407117|nonsense_mediated_decay|2/8|n.-34A>G|||||1627|,C|5_prime_UTR_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000424350|protein_coding|2/6|c.-34A>G|||||1627|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|MIR658|ENSG00000207945|transcript|ENST00000385210|miRNA||n.*100A>G|||||4065|,C|intron_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000411961|protein_coding|1/6|c.329-1609A>G||||||,C|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000407117|nonsense_mediated_decay|2/8|n.-34A>G||||||,C|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000464849|processed_transcript|1/6|n.28A>G||||||,C|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000413497|nonsense_mediated_decay|2/5|n.392A>G||||||;LOF=(ANKRD54|ENSG00000100124|12|0.17) 22 38236258 . G A . . ANN=A|sequence_feature|LOW|ANKRD54|ENSG00000100124|repeat:ANK_1|ENST00000215941|protein_coding|3/8|c.329-17C>T||||||,A|sequence_feature|LOW|ANKRD54|ENSG00000100124|repeat:ANK_1|ENST00000215941|protein_coding|2/8|c.329-17C>T||||||,A|sequence_feature|LOW|ANKRD54|ENSG00000100124|repeat:ANK_1|ENST00000215941|protein_coding|1/8|c.329-17C>T||||||,A|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:Nuclear_localization_signal__NLS_|ENST00000215941|protein_coding|2/8|c.329-17C>T||||||,A|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:Nuclear_localization_signal__NLS_|ENST00000215941|protein_coding|1/8|c.329-17C>T||||||,A|upstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000464849|processed_transcript||n.-1C>T|||||17|,A|downstream_gene_variant|MODIFIER|MIR658|ENSG00000207945|transcript|ENST00000385210|miRNA||n.*100C>T|||||4021|,A|intron_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000215941|protein_coding|1/7|c.329-17C>T||||||,A|intron_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000406423|protein_coding|1/7|c.-27-17C>T||||||,A|intron_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000609454|protein_coding|1/5|c.-27-17C>T||||||,A|intron_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000411961|protein_coding|1/6|c.329-1653C>T||||||,A|intron_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000458278|protein_coding|1/6|c.95-17C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000407117|nonsense_mediated_decay|1/7|n.-61-17C>T||||||,A|intron_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000413497|nonsense_mediated_decay|1/4|n.365-17C>T||||||,A|intron_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000424350|protein_coding|1/5|c.-61-17C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000434930|protein_coding|1/5|c.329-17C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 38240267 . T G . . ANN=G|5_prime_UTR_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000215941|protein_coding|1/8|c.-22A>C|||||22|,G|5_prime_UTR_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000411961|protein_coding|1/7|c.-22A>C|||||22|,G|5_prime_UTR_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000434930|protein_coding|1/6|c.-22A>C|||||22|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000412331|protein_coding||c.-583T>G|||||4608|,G|upstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000406423|protein_coding||c.-294A>C|||||378|,G|upstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000458278|protein_coding||c.-3A>C|||||254|WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000407117|nonsense_mediated_decay||n.-322A>C|||||90|,G|upstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000464849|processed_transcript||n.-1A>C|||||4026|,G|upstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000424350|protein_coding||c.-328A>C|||||378|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|MIR658|ENSG00000207945|transcript|ENST00000385210|miRNA||n.*100A>C|||||12|,G|downstream_gene_variant|MODIFIER|MIR659|ENSG00000207696|transcript|ENST00000384963|miRNA||n.*97A>C|||||3418|,G|downstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000609706|processed_transcript||n.*1140A>C|||||3919|,G|intron_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000609454|protein_coding|1/5|c.-27-4026A>C||||||,G|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000413497|nonsense_mediated_decay|1/5|n.15A>C|||||| 22 38240289 . G T . . ANN=T|5_prime_UTR_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000215941|protein_coding|1/8|c.-44C>A|||||44|,T|5_prime_UTR_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000411961|protein_coding|1/7|c.-44C>A|||||44|,T|5_prime_UTR_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000434930|protein_coding|1/6|c.-44C>A|||||44|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000412331|protein_coding||c.-583G>T|||||4586|,T|upstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000406423|protein_coding||c.-294C>A|||||400|,T|upstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000458278|protein_coding||c.-3C>A|||||276|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000407117|nonsense_mediated_decay||n.-322C>A|||||112|,T|upstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000464849|processed_transcript||n.-1C>A|||||4048|,T|upstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000413497|nonsense_mediated_decay||n.-3C>A|||||6|,T|upstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000424350|protein_coding||c.-328C>A|||||400|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|MIR659|ENSG00000207696|transcript|ENST00000384963|miRNA||n.*97C>A|||||3396|,T|downstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000609706|processed_transcript||n.*1140C>A|||||3897|,T|intron_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000609454|protein_coding|1/5|c.-27-4048C>A||||||,T|non_coding_exon_variant|MODIFIER|MIR658|ENSG00000207945|transcript|ENST00000385210|miRNA|1/1|n.90C>A|||||| 22 38245412 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000412331|protein_coding|1/13|c.-45C>T|||||45|,T|upstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000215941|protein_coding||c.-194G>A|||||4974|,T|upstream_gene_variant|MODIFIER|MIR659|ENSG00000207696|transcript|ENST00000384963|miRNA||n.-1G>A|||||1631|,T|upstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000609454|protein_coding||c.-419G>A|||||78|,T|upstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000609706|processed_transcript||n.-1G>A|||||87|,T|upstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000439997|nonsense_mediated_decay||n.-1C>T|||||6|,T|upstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000476955|processed_transcript||n.-1C>T|||||12|,T|upstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000381683|protein_coding||c.-34C>T|||||12|,T|upstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000414316|protein_coding||c.-31C>T|||||15|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000436452|nonsense_mediated_decay||n.-1C>T|||||15|,T|upstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000477256|retained_intron||n.-1C>T|||||16|,T|upstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000406934|protein_coding||c.-716C>T|||||76|,T|upstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000451427|protein_coding||c.-134C>T|||||215|WARNING_TRANSCRIPT_NO_STOP_CODON 22 38245441 . C T . . ANN=T|5_prime_UTR_premature_start_codon_gain_variant|LOW|EIF3L|ENSG00000100129|transcript|ENST00000412331|protein_coding|1/13|c.-16C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|EIF3L|ENSG00000100129|transcript|ENST00000381683|protein_coding|1/11|c.-16C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|EIF3L|ENSG00000100129|transcript|ENST00000414316|protein_coding|1/7|c.-16C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000412331|protein_coding|1/13|c.-16C>T|||||16|,T|5_prime_UTR_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000381683|protein_coding|1/11|c.-16C>T|||||16|,T|5_prime_UTR_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000414316|protein_coding|1/7|c.-16C>T|||||16|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|MIR659|ENSG00000207696|transcript|ENST00000384963|miRNA||n.-1G>A|||||1660|,T|upstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000609454|protein_coding||c.-419G>A|||||107|,T|upstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000609706|processed_transcript||n.-1G>A|||||116|,T|upstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000406934|protein_coding||c.-716C>T|||||47|,T|upstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000451427|protein_coding||c.-134C>T|||||186|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000439997|nonsense_mediated_decay|1/8|n.24C>T||||||,T|non_coding_exon_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000476955|processed_transcript|1/5|n.18C>T||||||,T|non_coding_exon_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000436452|nonsense_mediated_decay|1/7|n.15C>T||||||,T|non_coding_exon_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000477256|retained_intron|1/12|n.14C>T|||||| 22 38245456 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000412331|protein_coding|1/13|c.-1C>T|||||1|,T|5_prime_UTR_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000381683|protein_coding|1/11|c.-1C>T|||||1|,T|5_prime_UTR_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000414316|protein_coding|1/7|c.-1C>T|||||1|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|MIR659|ENSG00000207696|transcript|ENST00000384963|miRNA||n.-1G>A|||||1675|,T|upstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000609454|protein_coding||c.-419G>A|||||122|,T|upstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000609706|processed_transcript||n.-1G>A|||||131|,T|upstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000406934|protein_coding||c.-716C>T|||||32|,T|upstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000451427|protein_coding||c.-134C>T|||||171|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000439997|nonsense_mediated_decay|1/8|n.39C>T||||||,T|non_coding_exon_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000476955|processed_transcript|1/5|n.33C>T||||||,T|non_coding_exon_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000436452|nonsense_mediated_decay|1/7|n.30C>T||||||,T|non_coding_exon_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000477256|retained_intron|1/12|n.29C>T|||||| 22 38246007 . T A . . ANN=A|5_prime_UTR_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000406934|protein_coding|1/11|c.-196T>A|||||1412|,A|upstream_gene_variant|MODIFIER|MIR659|ENSG00000207696|transcript|ENST00000384963|miRNA||n.-1A>T|||||2226|,A|upstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000609454|protein_coding||c.-419A>T|||||673|,A|upstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000609706|processed_transcript||n.-1A>T|||||682|,A|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000412331|protein_coding|1/12|c.34-15T>A||||||,A|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000439997|nonsense_mediated_decay|1/7|n.73-15T>A||||||,A|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000476955|processed_transcript|1/4|n.67-15T>A||||||,A|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000381683|protein_coding|1/10|c.34-15T>A||||||,A|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000414316|protein_coding|1/6|c.34-15T>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000436452|nonsense_mediated_decay|1/6|n.63+518T>A||||||,A|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000477256|retained_intron|1/11|n.63-15T>A||||||,A|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000451427|protein_coding|1/6|c.-39-15T>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 38246048 . C T . . ANN=T|synonymous_variant|LOW|EIF3L|ENSG00000100129|transcript|ENST00000412331|protein_coding|2/13|c.60C>T|p.Pro20Pro|642/3220|60/1695|20/564||,T|synonymous_variant|LOW|EIF3L|ENSG00000100129|transcript|ENST00000381683|protein_coding|2/11|c.60C>T|p.Pro20Pro|93/1599|60/1551|20/516||,T|synonymous_variant|LOW|EIF3L|ENSG00000100129|transcript|ENST00000414316|protein_coding|2/7|c.60C>T|p.Pro20Pro|90/581|60/551|20/182||WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000406934|protein_coding|1/11|c.-155C>T|||||1371|,T|5_prime_UTR_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000451427|protein_coding|2/7|c.-13C>T|||||13|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|MIR659|ENSG00000207696|transcript|ENST00000384963|miRNA||n.-1G>A|||||2267|,T|upstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000609454|protein_coding||c.-419G>A|||||714|,T|upstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000609706|processed_transcript||n.-1G>A|||||723|,T|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000436452|nonsense_mediated_decay|1/6|n.63+559C>T||||||,T|non_coding_exon_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000439997|nonsense_mediated_decay|2/8|n.99C>T||||||,T|non_coding_exon_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000476955|processed_transcript|2/5|n.93C>T||||||,T|non_coding_exon_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000477256|retained_intron|2/12|n.89C>T|||||| 22 38246097 . G A . . ANN=A|upstream_gene_variant|MODIFIER|MIR659|ENSG00000207696|transcript|ENST00000384963|miRNA||n.-1C>T|||||2316|,A|upstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000609454|protein_coding||c.-419C>T|||||763|,A|upstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000609706|processed_transcript||n.-1C>T|||||772|,A|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000412331|protein_coding|2/12|c.82+27G>A||||||,A|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000439997|nonsense_mediated_decay|2/7|n.121+27G>A||||||,A|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000476955|processed_transcript|2/4|n.115+27G>A||||||,A|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000381683|protein_coding|2/10|c.82+27G>A||||||,A|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000414316|protein_coding|2/6|c.82+27G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000436452|nonsense_mediated_decay|1/6|n.63+608G>A||||||,A|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000477256|retained_intron|2/11|n.111+27G>A||||||,A|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000406934|protein_coding|1/10|c.-133+27G>A||||||,A|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000451427|protein_coding|2/6|c.10+27G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 38251629 . C G . . ANN=G|synonymous_variant|LOW|EIF3L|ENSG00000100129|transcript|ENST00000412331|protein_coding|4/13|c.351C>G|p.Ala117Ala|933/3220|351/1695|117/564||,G|synonymous_variant|LOW|EIF3L|ENSG00000100129|transcript|ENST00000381683|protein_coding|4/11|c.351C>G|p.Ala117Ala|384/1599|351/1551|117/516||,G|synonymous_variant|LOW|EIF3L|ENSG00000100129|transcript|ENST00000414316|protein_coding|5/7|c.402C>G|p.Ala134Ala|432/581|402/551|134/182||WARNING_TRANSCRIPT_INCOMPLETE,G|synonymous_variant|LOW|EIF3L|ENSG00000100129|transcript|ENST00000451427|protein_coding|4/7|c.279C>G|p.Ala93Ala|412/583|279/450|93/149||WARNING_TRANSCRIPT_NO_STOP_CODON,G|3_prime_UTR_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000439997|nonsense_mediated_decay|4/8|n.*77C>G|||||4080|,G|3_prime_UTR_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000436452|nonsense_mediated_decay|3/7|n.*209C>G|||||4283|,G|upstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000464790|processed_transcript||n.-1C>G|||||2943|,G|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000476955|processed_transcript|3/4|n.326+4132C>G||||||,G|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000406934|protein_coding|2/10|c.80-3057C>G||||||,G|non_coding_exon_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000439997|nonsense_mediated_decay|4/8|n.*77C>G||||||,G|non_coding_exon_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000436452|nonsense_mediated_decay|3/7|n.*209C>G||||||,G|non_coding_exon_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000477256|retained_intron|4/12|n.380C>G|||||| 22 38251686 . T C . . ANN=C|upstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000464790|processed_transcript||n.-1T>C|||||2886|,C|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000412331|protein_coding|4/12|c.373+35T>C||||||,C|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000439997|nonsense_mediated_decay|4/7|n.*99+35T>C||||||,C|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000476955|processed_transcript|3/4|n.326+4189T>C||||||,C|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000381683|protein_coding|4/10|c.373+35T>C||||||,C|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000414316|protein_coding|5/6|c.424+35T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000436452|nonsense_mediated_decay|3/6|n.*231+35T>C||||||,C|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000477256|retained_intron|4/11|n.402+35T>C||||||,C|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000406934|protein_coding|2/10|c.80-3000T>C||||||,C|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000451427|protein_coding|4/6|c.301+35T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 38251687 . G A . . ANN=A|upstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000464790|processed_transcript||n.-1G>A|||||2885|,A|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000412331|protein_coding|4/12|c.373+36G>A||||||,A|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000439997|nonsense_mediated_decay|4/7|n.*99+36G>A||||||,A|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000476955|processed_transcript|3/4|n.326+4190G>A||||||,A|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000381683|protein_coding|4/10|c.373+36G>A||||||,A|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000414316|protein_coding|5/6|c.424+36G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000436452|nonsense_mediated_decay|3/6|n.*231+36G>A||||||,A|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000477256|retained_intron|4/11|n.402+36G>A||||||,A|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000406934|protein_coding|2/10|c.80-2999G>A||||||,A|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000451427|protein_coding|4/6|c.301+36G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 38254764 . C T . . ANN=T|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000412331|protein_coding|5/12|c.435+17C>T||||||,T|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000439997|nonsense_mediated_decay|5/7|n.*161+17C>T||||||,T|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000476955|processed_transcript|3/4|n.326+7267C>T||||||,T|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000381683|protein_coding|5/10|c.435+17C>T||||||,T|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000414316|protein_coding|6/6|c.486+17C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000436452|nonsense_mediated_decay|4/6|n.*293+17C>T||||||,T|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000477256|retained_intron|5/11|n.464+17C>T||||||,T|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000406934|protein_coding|3/10|c.141+17C>T||||||,T|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000451427|protein_coding|5/6|c.363+17C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000464790|processed_transcript|1/4|n.176+17C>T|||||| 22 38254768 . GT G . . ANN=|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000412331|protein_coding|5/12|c.435+31delT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000439997|nonsense_mediated_decay|5/7|n.*161+31delT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000476955|processed_transcript|3/4|n.326+7281delT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000381683|protein_coding|5/10|c.435+31delT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000414316|protein_coding|6/6|c.486+31delT||||||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000436452|nonsense_mediated_decay|4/6|n.*293+31delT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000477256|retained_intron|5/11|n.464+31delT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000406934|protein_coding|3/10|c.141+31delT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000451427|protein_coding|5/6|c.363+31delT||||||WARNING_TRANSCRIPT_NO_STOP_CODON&INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000464790|processed_transcript|1/4|n.176+31delT||||||INFO_REALIGN_3_PRIME 22 38254769 . T G . . ANN=G|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000412331|protein_coding|5/12|c.435+22T>G||||||,G|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000439997|nonsense_mediated_decay|5/7|n.*161+22T>G||||||,G|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000476955|processed_transcript|3/4|n.326+7272T>G||||||,G|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000381683|protein_coding|5/10|c.435+22T>G||||||,G|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000414316|protein_coding|6/6|c.486+22T>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000436452|nonsense_mediated_decay|4/6|n.*293+22T>G||||||,G|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000477256|retained_intron|5/11|n.464+22T>G||||||,G|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000406934|protein_coding|3/10|c.141+22T>G||||||,G|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000451427|protein_coding|5/6|c.363+22T>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000464790|processed_transcript|1/4|n.176+22T>G|||||| 22 38266150 . C G . . ANN=G|upstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000482600|retained_intron||n.-1C>G|||||22|,G|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000412331|protein_coding|7/12|c.580-33C>G||||||,G|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000439997|nonsense_mediated_decay|7/7|n.*306-33C>G||||||,G|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000476955|processed_transcript|3/4|n.327-33C>G||||||,G|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000381683|protein_coding|5/10|c.436-33C>G||||||,G|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000436452|nonsense_mediated_decay|6/6|n.*438-33C>G||||||,G|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000477256|retained_intron|7/11|n.609-33C>G||||||,G|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000406934|protein_coding|5/10|c.286-33C>G||||||,G|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000464790|processed_transcript|3/4|n.321-33C>G|||||| 22 38266350 . C T . . ANN=T|synonymous_variant|LOW|EIF3L|ENSG00000100129|transcript|ENST00000412331|protein_coding|8/13|c.747C>T|p.Ser249Ser|1329/3220|747/1695|249/564||,T|synonymous_variant|LOW|EIF3L|ENSG00000100129|transcript|ENST00000381683|protein_coding|6/11|c.603C>T|p.Ser201Ser|636/1599|603/1551|201/516||,T|synonymous_variant|LOW|EIF3L|ENSG00000100129|transcript|ENST00000406934|protein_coding|6/11|c.453C>T|p.Ser151Ser|1168/2282|453/1401|151/466||,T|downstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000439997|nonsense_mediated_decay||n.*384C>T|||||70|,T|downstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000436452|nonsense_mediated_decay||n.*123C>T|||||154|,T|non_coding_exon_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000476955|processed_transcript|4/5|n.494C>T||||||,T|non_coding_exon_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000477256|retained_intron|8/12|n.776C>T||||||,T|non_coding_exon_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000464790|processed_transcript|4/5|n.488C>T||||||,T|non_coding_exon_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000482600|retained_intron|1/6|n.179C>T|||||| 22 38266371 . G A . . ANN=A|downstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000439997|nonsense_mediated_decay||n.*384G>A|||||91|,A|downstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000436452|nonsense_mediated_decay||n.*123G>A|||||175|,A|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000412331|protein_coding|8/12|c.751+17G>A||||||,A|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000476955|processed_transcript|4/4|n.498+17G>A||||||,A|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000381683|protein_coding|6/10|c.607+17G>A||||||,A|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000477256|retained_intron|8/11|n.780+17G>A||||||,A|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000406934|protein_coding|6/10|c.457+17G>A||||||,A|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000464790|processed_transcript|4/4|n.492+17G>A||||||,A|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000482600|retained_intron|1/5|n.183+17G>A|||||| 22 38266376 . C G . . ANN=G|downstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000439997|nonsense_mediated_decay||n.*384C>G|||||96|,G|downstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000436452|nonsense_mediated_decay||n.*123C>G|||||180|,G|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000412331|protein_coding|8/12|c.751+22C>G||||||,G|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000476955|processed_transcript|4/4|n.498+22C>G||||||,G|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000381683|protein_coding|6/10|c.607+22C>G||||||,G|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000477256|retained_intron|8/11|n.780+22C>G||||||,G|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000406934|protein_coding|6/10|c.457+22C>G||||||,G|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000464790|processed_transcript|4/4|n.492+22C>G||||||,G|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000482600|retained_intron|1/5|n.183+22C>G|||||| 22 38266378 . G A . . ANN=A|downstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000439997|nonsense_mediated_decay||n.*384G>A|||||98|,A|downstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000436452|nonsense_mediated_decay||n.*123G>A|||||182|,A|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000412331|protein_coding|8/12|c.751+24G>A||||||,A|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000476955|processed_transcript|4/4|n.498+24G>A||||||,A|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000381683|protein_coding|6/10|c.607+24G>A||||||,A|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000477256|retained_intron|8/11|n.780+24G>A||||||,A|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000406934|protein_coding|6/10|c.457+24G>A||||||,A|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000464790|processed_transcript|4/4|n.492+24G>A||||||,A|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000482600|retained_intron|1/5|n.183+24G>A|||||| 22 38270331 . C T . . ANN=T|upstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000450376|protein_coding||c.-1C>T|||||3737|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000439997|nonsense_mediated_decay||n.*384C>T|||||4051|,T|downstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000476955|processed_transcript||n.*583C>T|||||3040|,T|downstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000436452|nonsense_mediated_decay||n.*123C>T|||||4135|,T|downstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000464790|processed_transcript||n.*583C>T|||||3034|,T|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000412331|protein_coding|8/12|c.752-46C>T||||||,T|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000381683|protein_coding|6/10|c.608-46C>T||||||,T|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000477256|retained_intron|8/11|n.781-46C>T||||||,T|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000406934|protein_coding|6/10|c.458-46C>T||||||,T|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000482600|retained_intron|1/5|n.184-46C>T|||||| 22 38270459 . C T . . ANN=T|synonymous_variant|LOW|EIF3L|ENSG00000100129|transcript|ENST00000412331|protein_coding|9/13|c.834C>T|p.Leu278Leu|1416/3220|834/1695|278/564||,T|synonymous_variant|LOW|EIF3L|ENSG00000100129|transcript|ENST00000381683|protein_coding|7/11|c.690C>T|p.Leu230Leu|723/1599|690/1551|230/516||,T|synonymous_variant|LOW|EIF3L|ENSG00000100129|transcript|ENST00000406934|protein_coding|7/11|c.540C>T|p.Leu180Leu|1255/2282|540/1401|180/466||,T|upstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000450376|protein_coding||c.-1C>T|||||3609|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000439997|nonsense_mediated_decay||n.*384C>T|||||4179|,T|downstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000476955|processed_transcript||n.*583C>T|||||3168|,T|downstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000436452|nonsense_mediated_decay||n.*123C>T|||||4263|,T|downstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000464790|processed_transcript||n.*583C>T|||||3162|,T|non_coding_exon_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000477256|retained_intron|9/12|n.863C>T||||||,T|non_coding_exon_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000482600|retained_intron|2/6|n.266C>T|||||| 22 38270498 . C T . . ANN=T|synonymous_variant|LOW|EIF3L|ENSG00000100129|transcript|ENST00000412331|protein_coding|9/13|c.873C>T|p.Ile291Ile|1455/3220|873/1695|291/564||,T|synonymous_variant|LOW|EIF3L|ENSG00000100129|transcript|ENST00000381683|protein_coding|7/11|c.729C>T|p.Ile243Ile|762/1599|729/1551|243/516||,T|synonymous_variant|LOW|EIF3L|ENSG00000100129|transcript|ENST00000406934|protein_coding|7/11|c.579C>T|p.Ile193Ile|1294/2282|579/1401|193/466||,T|upstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000450376|protein_coding||c.-1C>T|||||3570|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000439997|nonsense_mediated_decay||n.*384C>T|||||4218|,T|downstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000476955|processed_transcript||n.*583C>T|||||3207|,T|downstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000436452|nonsense_mediated_decay||n.*123C>T|||||4302|,T|downstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000464790|processed_transcript||n.*583C>T|||||3201|,T|non_coding_exon_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000477256|retained_intron|9/12|n.902C>T||||||,T|non_coding_exon_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000482600|retained_intron|2/6|n.305C>T|||||| 22 38270541 . A G . . ANN=G|upstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000450376|protein_coding||c.-1A>G|||||3527|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000439997|nonsense_mediated_decay||n.*384A>G|||||4261|,G|downstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000476955|processed_transcript||n.*583A>G|||||3250|,G|downstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000436452|nonsense_mediated_decay||n.*123A>G|||||4345|,G|downstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000464790|processed_transcript||n.*583A>G|||||3244|,G|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000412331|protein_coding|9/12|c.906+10A>G||||||,G|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000381683|protein_coding|7/10|c.762+10A>G||||||,G|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000477256|retained_intron|9/11|n.935+10A>G||||||,G|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000406934|protein_coding|7/10|c.612+10A>G||||||,G|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000482600|retained_intron|2/5|n.338+10A>G|||||| 22 38270568 . C T . . ANN=T|upstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000450376|protein_coding||c.-1C>T|||||3500|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000439997|nonsense_mediated_decay||n.*384C>T|||||4288|,T|downstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000476955|processed_transcript||n.*583C>T|||||3277|,T|downstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000436452|nonsense_mediated_decay||n.*123C>T|||||4372|,T|downstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000464790|processed_transcript||n.*583C>T|||||3271|,T|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000412331|protein_coding|9/12|c.906+37C>T||||||,T|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000381683|protein_coding|7/10|c.762+37C>T||||||,T|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000477256|retained_intron|9/11|n.935+37C>T||||||,T|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000406934|protein_coding|7/10|c.612+37C>T||||||,T|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000482600|retained_intron|2/5|n.338+37C>T|||||| 22 38270578 . A G . . ANN=G|upstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000450376|protein_coding||c.-1A>G|||||3490|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000439997|nonsense_mediated_decay||n.*384A>G|||||4298|,G|downstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000476955|processed_transcript||n.*583A>G|||||3287|,G|downstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000436452|nonsense_mediated_decay||n.*123A>G|||||4382|,G|downstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000464790|processed_transcript||n.*583A>G|||||3281|,G|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000412331|protein_coding|9/12|c.906+47A>G||||||,G|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000381683|protein_coding|7/10|c.762+47A>G||||||,G|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000477256|retained_intron|9/11|n.935+47A>G||||||,G|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000406934|protein_coding|7/10|c.612+47A>G||||||,G|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000482600|retained_intron|2/5|n.338+47A>G|||||| 22 38271907 . A G . . ANN=G|synonymous_variant|LOW|EIF3L|ENSG00000100129|transcript|ENST00000412331|protein_coding|10/13|c.966A>G|p.Ala322Ala|1548/3220|966/1695|322/564||,G|synonymous_variant|LOW|EIF3L|ENSG00000100129|transcript|ENST00000381683|protein_coding|8/11|c.822A>G|p.Ala274Ala|855/1599|822/1551|274/516||,G|synonymous_variant|LOW|EIF3L|ENSG00000100129|transcript|ENST00000406934|protein_coding|8/11|c.672A>G|p.Ala224Ala|1387/2282|672/1401|224/466||,G|upstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000450376|protein_coding||c.-1A>G|||||2161|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000476955|processed_transcript||n.*583A>G|||||4616|,G|downstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000464790|processed_transcript||n.*583A>G|||||4610|,G|non_coding_exon_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000477256|retained_intron|10/12|n.995A>G||||||,G|non_coding_exon_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000482600|retained_intron|3/6|n.398A>G|||||| 22 38271937 . C T . . ANN=T|synonymous_variant|LOW|EIF3L|ENSG00000100129|transcript|ENST00000412331|protein_coding|10/13|c.996C>T|p.Ala332Ala|1578/3220|996/1695|332/564||,T|synonymous_variant|LOW|EIF3L|ENSG00000100129|transcript|ENST00000381683|protein_coding|8/11|c.852C>T|p.Ala284Ala|885/1599|852/1551|284/516||,T|synonymous_variant|LOW|EIF3L|ENSG00000100129|transcript|ENST00000406934|protein_coding|8/11|c.702C>T|p.Ala234Ala|1417/2282|702/1401|234/466||,T|upstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000450376|protein_coding||c.-1C>T|||||2131|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000476955|processed_transcript||n.*583C>T|||||4646|,T|downstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000464790|processed_transcript||n.*583C>T|||||4640|,T|non_coding_exon_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000477256|retained_intron|10/12|n.1025C>T||||||,T|non_coding_exon_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000482600|retained_intron|3/6|n.428C>T|||||| 22 38272062 . G A . . ANN=A|upstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000450376|protein_coding||c.-1G>A|||||2006|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000476955|processed_transcript||n.*583G>A|||||4771|,A|downstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000464790|processed_transcript||n.*583G>A|||||4765|,A|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000412331|protein_coding|10/12|c.1077+44G>A||||||,A|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000381683|protein_coding|8/10|c.933+44G>A||||||,A|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000477256|retained_intron|10/11|n.1106+44G>A||||||,A|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000406934|protein_coding|8/10|c.783+44G>A||||||,A|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000482600|retained_intron|3/5|n.509+44G>A|||||| 22 38273675 . C A . . ANN=A|splice_region_variant&intron_variant|LOW|EIF3L|ENSG00000100129|transcript|ENST00000412331|protein_coding|10/12|c.1078-6C>A||||||,A|splice_region_variant&intron_variant|LOW|EIF3L|ENSG00000100129|transcript|ENST00000381683|protein_coding|8/10|c.934-6C>A||||||,A|splice_region_variant&intron_variant|LOW|EIF3L|ENSG00000100129|transcript|ENST00000477256|retained_intron|10/11|n.1107-6C>A||||||,A|splice_region_variant&intron_variant|LOW|EIF3L|ENSG00000100129|transcript|ENST00000406934|protein_coding|8/10|c.784-6C>A||||||,A|splice_region_variant&intron_variant|LOW|EIF3L|ENSG00000100129|transcript|ENST00000482600|retained_intron|3/5|n.510-6C>A||||||,A|upstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000450376|protein_coding||c.-1C>A|||||393|WARNING_TRANSCRIPT_NO_START_CODON 22 38273676 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|EIF3L|ENSG00000100129|transcript|ENST00000412331|protein_coding|10/12|c.1078-5C>T||||||,T|splice_region_variant&intron_variant|LOW|EIF3L|ENSG00000100129|transcript|ENST00000381683|protein_coding|8/10|c.934-5C>T||||||,T|splice_region_variant&intron_variant|LOW|EIF3L|ENSG00000100129|transcript|ENST00000477256|retained_intron|10/11|n.1107-5C>T||||||,T|splice_region_variant&intron_variant|LOW|EIF3L|ENSG00000100129|transcript|ENST00000406934|protein_coding|8/10|c.784-5C>T||||||,T|splice_region_variant&intron_variant|LOW|EIF3L|ENSG00000100129|transcript|ENST00000482600|retained_intron|3/5|n.510-5C>T||||||,T|upstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000450376|protein_coding||c.-1C>T|||||392|WARNING_TRANSCRIPT_NO_START_CODON 22 38273710 . G A . . ANN=A|synonymous_variant|LOW|EIF3L|ENSG00000100129|transcript|ENST00000412331|protein_coding|11/13|c.1107G>A|p.Ala369Ala|1689/3220|1107/1695|369/564||,A|synonymous_variant|LOW|EIF3L|ENSG00000100129|transcript|ENST00000381683|protein_coding|9/11|c.963G>A|p.Ala321Ala|996/1599|963/1551|321/516||,A|synonymous_variant|LOW|EIF3L|ENSG00000100129|transcript|ENST00000406934|protein_coding|9/11|c.813G>A|p.Ala271Ala|1528/2282|813/1401|271/466||,A|upstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000450376|protein_coding||c.-1G>A|||||358|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000477256|retained_intron|11/12|n.1136G>A||||||,A|non_coding_exon_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000482600|retained_intron|4/6|n.539G>A|||||| 22 38273749 . T C . . ANN=C|synonymous_variant|LOW|EIF3L|ENSG00000100129|transcript|ENST00000412331|protein_coding|11/13|c.1146T>C|p.Ile382Ile|1728/3220|1146/1695|382/564||,C|synonymous_variant|LOW|EIF3L|ENSG00000100129|transcript|ENST00000381683|protein_coding|9/11|c.1002T>C|p.Ile334Ile|1035/1599|1002/1551|334/516||,C|synonymous_variant|LOW|EIF3L|ENSG00000100129|transcript|ENST00000406934|protein_coding|9/11|c.852T>C|p.Ile284Ile|1567/2282|852/1401|284/466||,C|upstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000450376|protein_coding||c.-1T>C|||||319|WARNING_TRANSCRIPT_NO_START_CODON,C|non_coding_exon_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000477256|retained_intron|11/12|n.1175T>C||||||,C|non_coding_exon_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000482600|retained_intron|4/6|n.578T>C|||||| 22 38274005 . A AC . . ANN=C|frameshift_variant|HIGH|EIF3L|ENSG00000100129|transcript|ENST00000412331|protein_coding|11/13|c.1404dupC|p.Thr469fs|1987/3220|1405/1695|469/564||INFO_REALIGN_3_PRIME,C|frameshift_variant|HIGH|EIF3L|ENSG00000100129|transcript|ENST00000381683|protein_coding|9/11|c.1260dupC|p.Thr421fs|1294/1599|1261/1551|421/516||INFO_REALIGN_3_PRIME,C|frameshift_variant|HIGH|EIF3L|ENSG00000100129|transcript|ENST00000406934|protein_coding|9/11|c.1110dupC|p.Thr371fs|1826/2282|1111/1401|371/466||INFO_REALIGN_3_PRIME,C|upstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000450376|protein_coding||c.-1_-1insC|||||62|WARNING_TRANSCRIPT_NO_START_CODON,C|non_coding_exon_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000477256|retained_intron|11/12|n.1433dupC||||||INFO_REALIGN_3_PRIME,C|non_coding_exon_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000482600|retained_intron|4/6|n.836dupC||||||INFO_REALIGN_3_PRIME;LOF=(EIF3L|ENSG00000100129|13|0.23) 22 38274208 . G A . . ANN=A|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000412331|protein_coding|11/12|c.1575+30G>A||||||,A|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000381683|protein_coding|9/10|c.1431+30G>A||||||,A|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000477256|retained_intron|11/11|n.1604+30G>A||||||,A|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000406934|protein_coding|9/10|c.1281+30G>A||||||,A|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000482600|retained_intron|4/5|n.1007+30G>A||||||,A|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000450376|protein_coding|1/3|c.111+30G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 38282873 . G A . . ANN=A|splice_region_variant&non_coding_exon_variant|LOW|EIF3L|ENSG00000100129|transcript|ENST00000477256|retained_intron|12/12|n.1706G>A||||||,A|upstream_gene_variant|MODIFIER|RNU6-900P|ENSG00000207227|transcript|ENST00000384498|snRNA||n.-1G>A|||||4481|,A|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000412331|protein_coding|12/12|c.1656+21G>A||||||,A|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000381683|protein_coding|10/10|c.1512+21G>A||||||,A|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000406934|protein_coding|10/10|c.1362+21G>A||||||,A|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000482600|retained_intron|5/5|n.1088+21G>A||||||,A|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000450376|protein_coding|2/3|c.192+21G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000460638|retained_intron|1/1|n.142+21G>A|||||| 22 38282897 . C T . . ANN=T|upstream_gene_variant|MODIFIER|RNU6-900P|ENSG00000207227|transcript|ENST00000384498|snRNA||n.-1C>T|||||4457|,T|downstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000477256|retained_intron||n.*1708C>T|||||22|,T|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000412331|protein_coding|12/12|c.1656+45C>T||||||,T|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000381683|protein_coding|10/10|c.1512+45C>T||||||,T|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000406934|protein_coding|10/10|c.1362+45C>T||||||,T|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000482600|retained_intron|5/5|n.1088+45C>T||||||,T|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000450376|protein_coding|2/3|c.192+45C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000460638|retained_intron|1/1|n.142+45C>T|||||| 22 38284477 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000412331|protein_coding|13/13|c.*6T>C|||||6|,C|3_prime_UTR_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000381683|protein_coding|11/11|c.*6T>C|||||6|,C|3_prime_UTR_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000406934|protein_coding|11/11|c.*6T>C|||||6|,C|3_prime_UTR_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000450376|protein_coding|4/4|c.*29T>C|||||29|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|RNU6-900P|ENSG00000207227|transcript|ENST00000384498|snRNA||n.-1T>C|||||2877|,C|downstream_gene_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000477256|retained_intron||n.*1708T>C|||||1602|,C|non_coding_exon_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000482600|retained_intron|6/6|n.1133T>C||||||,C|non_coding_exon_variant|MODIFIER|EIF3L|ENSG00000100129|transcript|ENST00000460638|retained_intron|2/2|n.187T>C|||||| 22 38302469 . C T . . ANN=T|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|1/16|c.40C>T|p.Arg14Cys|166/4710|40/2592|14/863||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|domain:CH|ENST00000215957|protein_coding|2/16|c.40C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|domain:CH|ENST00000215957|protein_coding|1/16|c.40C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|domain:CH|ENST00000215957|protein_coding|3/16|c.40C>T||||||,T|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000489812|processed_transcript||n.-1C>T|||||420|,T|intron_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000445494|protein_coding|1/5|c.-107+736C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 38302599 . C G . . ANN=G|sequence_feature|LOW|MICALL1|ENSG00000100139|domain:CH|ENST00000215957|protein_coding|2/16|c.146+24C>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|domain:CH|ENST00000215957|protein_coding|1/16|c.146+24C>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|domain:CH|ENST00000215957|protein_coding|3/16|c.146+24C>G||||||,G|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000489812|processed_transcript||n.-1C>G|||||290|,G|intron_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|1/15|c.146+24C>G||||||,G|intron_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000445494|protein_coding|1/5|c.-107+866C>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 38307909 . T C . . ANN=C|sequence_feature|LOW|MICALL1|ENSG00000100139|domain:CH|ENST00000215957|protein_coding|2/16|c.147-50T>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|domain:CH|ENST00000215957|protein_coding|1/16|c.147-50T>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|domain:CH|ENST00000215957|protein_coding|3/16|c.147-50T>C||||||,C|intron_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|1/15|c.147-50T>C||||||,C|intron_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000445494|protein_coding|1/5|c.-106-50T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000489812|processed_transcript|1/3|n.598-50T>C|||||| 22 38307970 . C T . . ANN=T|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|2/16|c.158C>T|p.Ser53Leu|284/4710|158/2592|53/863||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|MICALL1|ENSG00000100139|transcript|ENST00000445494|protein_coding|2/6|c.-95C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|MICALL1|ENSG00000100139|domain:CH|ENST00000215957|protein_coding|2/16|c.158C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|domain:CH|ENST00000215957|protein_coding|1/16|c.158C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|domain:CH|ENST00000215957|protein_coding|3/16|c.158C>T||||||,T|5_prime_UTR_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000445494|protein_coding|2/6|c.-95C>T|||||445|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000489812|processed_transcript|2/4|n.609C>T|||||| 22 38307992 . C G . . ANN=G|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|2/16|c.180C>G|p.Phe60Leu|306/4710|180/2592|60/863||,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|MICALL1|ENSG00000100139|transcript|ENST00000445494|protein_coding|2/6|c.-73C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|MICALL1|ENSG00000100139|domain:CH|ENST00000215957|protein_coding|2/16|c.180C>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|domain:CH|ENST00000215957|protein_coding|1/16|c.180C>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|domain:CH|ENST00000215957|protein_coding|3/16|c.180C>G||||||,G|5_prime_UTR_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000445494|protein_coding|2/6|c.-73C>G|||||423|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000489812|processed_transcript|2/4|n.631C>G|||||| 22 38308044 . GTGTA G . . ANN=|sequence_feature|LOW|MICALL1|ENSG00000100139|domain:CH|ENST00000215957|protein_coding|2/16|c.195+38_195+41delTGTA||||||,|sequence_feature|LOW|MICALL1|ENSG00000100139|domain:CH|ENST00000215957|protein_coding|1/16|c.195+38_195+41delTGTA||||||,|sequence_feature|LOW|MICALL1|ENSG00000100139|domain:CH|ENST00000215957|protein_coding|3/16|c.195+38_195+41delTGTA||||||,|intron_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|2/15|c.195+41_195+44delATGT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000445494|protein_coding|2/5|c.-58+41_-58+44delATGT||||||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000489812|processed_transcript|2/3|n.646+41_646+44delATGT||||||INFO_REALIGN_3_PRIME 22 38308048 . ATGTG A . . ANN=|sequence_feature|LOW|MICALL1|ENSG00000100139|domain:CH|ENST00000215957|protein_coding|2/16|c.195+42_195+45delTGTG||||||,|sequence_feature|LOW|MICALL1|ENSG00000100139|domain:CH|ENST00000215957|protein_coding|1/16|c.195+42_195+45delTGTG||||||,|sequence_feature|LOW|MICALL1|ENSG00000100139|domain:CH|ENST00000215957|protein_coding|3/16|c.195+42_195+45delTGTG||||||,|intron_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|2/15|c.195+61_195+64delGTGT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000445494|protein_coding|2/5|c.-58+61_-58+64delGTGT||||||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000489812|processed_transcript|2/3|n.646+61_646+64delGTGT||||||INFO_REALIGN_3_PRIME 22 38308394 . G A . . ANN=A|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|3/16|c.232G>A|p.Ala78Thr|358/4710|232/2592|78/863||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|domain:CH|ENST00000215957|protein_coding|2/16|c.232G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|domain:CH|ENST00000215957|protein_coding|1/16|c.232G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|domain:CH|ENST00000215957|protein_coding|3/16|c.232G>A||||||,A|5_prime_UTR_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000445494|protein_coding|3/6|c.-21G>A|||||21|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000489812|processed_transcript|3/4|n.683G>A|||||| 22 38313724 . G A . . ANN=A|synonymous_variant|LOW|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|4/16|c.348G>A|p.Ser116Ser|474/4710|348/2592|116/863||,A|synonymous_variant|LOW|MICALL1|ENSG00000100139|transcript|ENST00000445494|protein_coding|4/6|c.96G>A|p.Ser32Ser|272/808|96/632|32/209||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000489812|processed_transcript|3/3|n.789-4255G>A|||||| 22 38313787 . A T . . ANN=T|synonymous_variant|LOW|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|4/16|c.411A>T|p.Pro137Pro|537/4710|411/2592|137/863||,T|synonymous_variant|LOW|MICALL1|ENSG00000100139|transcript|ENST00000445494|protein_coding|4/6|c.159A>T|p.Pro53Pro|335/808|159/632|53/209||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000489812|processed_transcript|3/3|n.789-4192A>T|||||| 22 38313848 . C T . . ANN=T|intron_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|4/15|c.426+46C>T||||||,T|intron_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000445494|protein_coding|4/5|c.174+46C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000489812|processed_transcript|3/3|n.789-4131C>T|||||| 22 38315015 . C A . . ANN=A|intron_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|4/15|c.427-28C>A||||||,A|intron_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000445494|protein_coding|4/5|c.175-28C>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000489812|processed_transcript|3/3|n.789-2964C>A|||||| 22 38315018 . A G . . ANN=G|intron_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|4/15|c.427-25A>G||||||,G|intron_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000445494|protein_coding|4/5|c.175-25A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000489812|processed_transcript|3/3|n.789-2961A>G|||||| 22 38315032 . G A . . ANN=A|intron_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|4/15|c.427-11G>A||||||,A|intron_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000445494|protein_coding|4/5|c.175-11G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000489812|processed_transcript|3/3|n.789-2947G>A|||||| 22 38317930 . C T . . ANN=T|sequence_feature|LOW|MICALL1|ENSG00000100139|domain:LIM_zinc-binding|ENST00000215957|protein_coding|5/16|c.570-49C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|domain:LIM_zinc-binding|ENST00000215957|protein_coding|6/16|c.570-49C>T||||||,T|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding||c.-2C>T|||||3924|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript||n.-1C>T|||||4640|,T|intron_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|5/15|c.570-49C>T||||||,T|intron_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000445494|protein_coding|5/5|c.318-49C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000489812|processed_transcript|3/3|n.789-49C>T|||||| 22 38317938 . A G . . ANN=G|sequence_feature|LOW|MICALL1|ENSG00000100139|domain:LIM_zinc-binding|ENST00000215957|protein_coding|5/16|c.570-41A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|domain:LIM_zinc-binding|ENST00000215957|protein_coding|6/16|c.570-41A>G||||||,G|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding||c.-2A>G|||||3916|WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript||n.-1A>G|||||4632|,G|intron_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|5/15|c.570-41A>G||||||,G|intron_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000445494|protein_coding|5/5|c.318-41A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000489812|processed_transcript|3/3|n.789-41A>G|||||| 22 38318029 . C T . . ANN=T|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|6/16|c.620C>T|p.Pro207Leu|746/4710|620/2592|207/863||,T|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000445494|protein_coding|6/6|c.368C>T|p.Pro123Leu|544/808|368/632|123/209||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|MICALL1|ENSG00000100139|domain:LIM_zinc-binding|ENST00000215957|protein_coding|5/16|c.620C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|domain:LIM_zinc-binding|ENST00000215957|protein_coding|6/16|c.620C>T||||||,T|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding||c.-2C>T|||||3825|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript||n.-1C>T|||||4541|,T|non_coding_exon_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000489812|processed_transcript|4/4|n.839C>T|||||| 22 38318039 . C T . . ANN=T|synonymous_variant|LOW|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|6/16|c.630C>T|p.Gly210Gly|756/4710|630/2592|210/863||,T|synonymous_variant|LOW|MICALL1|ENSG00000100139|transcript|ENST00000445494|protein_coding|6/6|c.378C>T|p.Gly126Gly|554/808|378/632|126/209||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|MICALL1|ENSG00000100139|domain:LIM_zinc-binding|ENST00000215957|protein_coding|5/16|c.630C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|domain:LIM_zinc-binding|ENST00000215957|protein_coding|6/16|c.630C>T||||||,T|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding||c.-2C>T|||||3815|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript||n.-1C>T|||||4531|,T|non_coding_exon_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000489812|processed_transcript|4/4|n.849C>T|||||| 22 38318144 . C T . . ANN=T|synonymous_variant|LOW|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|6/16|c.735C>T|p.Leu245Leu|861/4710|735/2592|245/863||,T|synonymous_variant|LOW|MICALL1|ENSG00000100139|transcript|ENST00000445494|protein_coding|6/6|c.483C>T|p.Leu161Leu|659/808|483/632|161/209||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding||c.-2C>T|||||3710|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript||n.-1C>T|||||4426|,T|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000489812|processed_transcript||n.*853C>T|||||101| 22 38318176 . G A . . ANN=A|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|6/16|c.767G>A|p.Gly256Asp|893/4710|767/2592|256/863||,A|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000445494|protein_coding|6/6|c.515G>A|p.Gly172Asp|691/808|515/632|172/209||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|6/16|c.767G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|7/16|c.767G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|8/16|c.767G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|10/16|c.767G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|9/16|c.767G>A||||||,A|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding||c.-2G>A|||||3678|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript||n.-1G>A|||||4394|,A|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000489812|processed_transcript||n.*853G>A|||||133| 22 38318238 . C T . . ANN=T|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|6/16|c.829C>T|p.Arg277Trp|955/4710|829/2592|277/863||,T|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000445494|protein_coding|6/6|c.577C>T|p.Arg193Trp|753/808|577/632|193/209||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|6/16|c.829C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|7/16|c.829C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|8/16|c.829C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|10/16|c.829C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|9/16|c.829C>T||||||,T|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding||c.-2C>T|||||3616|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript||n.-1C>T|||||4332|,T|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000489812|processed_transcript||n.*853C>T|||||195| 22 38318262 . C T . . ANN=T|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|6/16|c.853C>T|p.Arg285Trp|979/4710|853/2592|285/863||,T|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000445494|protein_coding|6/6|c.601C>T|p.Arg201Trp|777/808|601/632|201/209||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|6/16|c.853C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|7/16|c.853C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|8/16|c.853C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|10/16|c.853C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|9/16|c.853C>T||||||,T|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding||c.-2C>T|||||3592|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript||n.-1C>T|||||4308|,T|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000489812|processed_transcript||n.*853C>T|||||219| 22 38318268 . C T . . ANN=T|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|6/16|c.859C>T|p.Pro287Ser|985/4710|859/2592|287/863||,T|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000445494|protein_coding|6/6|c.607C>T|p.Pro203Ser|783/808|607/632|203/209||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|6/16|c.859C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|7/16|c.859C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|8/16|c.859C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|10/16|c.859C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|9/16|c.859C>T||||||,T|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding||c.-2C>T|||||3586|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript||n.-1C>T|||||4302|,T|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000489812|processed_transcript||n.*853C>T|||||225| 22 38318367 . C T . . ANN=T|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|6/16|c.958C>T|p.Arg320Trp|1084/4710|958/2592|320/863||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|6/16|c.958C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|7/16|c.958C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|8/16|c.958C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|10/16|c.958C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|9/16|c.958C>T||||||,T|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding||c.-2C>T|||||3487|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript||n.-1C>T|||||4203|,T|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000445494|protein_coding||c.*808C>T|||||74|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000489812|processed_transcript||n.*853C>T|||||324| 22 38318465 . C T . . ANN=T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|6/16|c.1024+32C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|7/16|c.1024+32C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|8/16|c.1024+32C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|10/16|c.1024+32C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|9/16|c.1024+32C>T||||||,T|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding||c.-2C>T|||||3389|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript||n.-1C>T|||||4105|,T|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000445494|protein_coding||c.*808C>T|||||172|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000489812|processed_transcript||n.*853C>T|||||422|,T|TF_binding_site_variant|MODIFIER|||CTCF|MA0139.1|||||||||,T|intron_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|6/15|c.1024+32C>T|||||| 22 38320658 . C T . . ANN=T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|6/16|c.1025-9C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|7/16|c.1025-9C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|8/16|c.1025-9C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|10/16|c.1025-9C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|9/16|c.1025-9C>T||||||,T|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding||c.-2C>T|||||1196|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript||n.-1C>T|||||1912|,T|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000445494|protein_coding||c.*808C>T|||||2365|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000489812|processed_transcript||n.*853C>T|||||2615|,T|intron_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|6/15|c.1025-9C>T|||||| 22 38320673 . T G . . ANN=G|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|7/16|c.1031T>G|p.Leu344Arg|1157/4710|1031/2592|344/863||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|6/16|c.1031T>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|7/16|c.1031T>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|8/16|c.1031T>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|10/16|c.1031T>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|9/16|c.1031T>G||||||,G|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding||c.-2T>G|||||1181|WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript||n.-1T>G|||||1897|,G|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000445494|protein_coding||c.*808T>G|||||2380|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000489812|processed_transcript||n.*853T>G|||||2630| 22 38320732 . G T . . ANN=T|splice_region_variant&intron_variant|LOW|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|7/15|c.1082+8G>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|6/16|c.1082+8G>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|7/16|c.1082+8G>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|8/16|c.1082+8G>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|10/16|c.1082+8G>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|9/16|c.1082+8G>T||||||,T|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding||c.-2G>T|||||1122|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript||n.-1G>T|||||1838|,T|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000445494|protein_coding||c.*808G>T|||||2439|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000489812|processed_transcript||n.*853G>T|||||2689| 22 38320753 . C T . . ANN=T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|6/16|c.1082+29C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|7/16|c.1082+29C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|8/16|c.1082+29C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|10/16|c.1082+29C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|9/16|c.1082+29C>T||||||,T|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding||c.-2C>T|||||1101|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript||n.-1C>T|||||1817|,T|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000445494|protein_coding||c.*808C>T|||||2460|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000489812|processed_transcript||n.*853C>T|||||2710|,T|intron_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|7/15|c.1082+29C>T|||||| 22 38321653 . TC T . . ANN=|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|6/16|c.1083-14delC||||||,|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|7/16|c.1083-14delC||||||,|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|8/16|c.1083-14delC||||||,|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|10/16|c.1083-14delC||||||,|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|9/16|c.1083-14delC||||||,|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding||c.-2delC|||||200|WARNING_TRANSCRIPT_NO_START_CODON,|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript||n.-1delC|||||916|,|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000445494|protein_coding||c.*808delC|||||3361|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000489812|processed_transcript||n.*853delC|||||3611|,|intron_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|7/15|c.1083-9delC||||||INFO_REALIGN_3_PRIME 22 38321704 . G A . . ANN=A|synonymous_variant|LOW|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|8/16|c.1119G>A|p.Thr373Thr|1245/4710|1119/2592|373/863||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|6/16|c.1119G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|7/16|c.1119G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|8/16|c.1119G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|10/16|c.1119G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|9/16|c.1119G>A||||||,A|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding||c.-2G>A|||||150|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript||n.-1G>A|||||866|,A|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000445494|protein_coding||c.*808G>A|||||3411|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000489812|processed_transcript||n.*853G>A|||||3661| 22 38321806 . C T . . ANN=T|synonymous_variant|LOW|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|8/16|c.1221C>T|p.Thr407Thr|1347/4710|1221/2592|407/863||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|6/16|c.1221C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|7/16|c.1221C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|8/16|c.1221C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|10/16|c.1221C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|9/16|c.1221C>T||||||,T|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding||c.-2C>T|||||48|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript||n.-1C>T|||||764|,T|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000445494|protein_coding||c.*808C>T|||||3513|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000489812|processed_transcript||n.*853C>T|||||3763| 22 38321977 . C T . . ANN=T|synonymous_variant|LOW|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|8/16|c.1392C>T|p.Tyr464Tyr|1518/4710|1392/2592|464/863||,T|synonymous_variant|LOW|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding|1/7|c.123C>T|p.Tyr41Tyr|124/1108|123/1107|41/368||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|6/16|c.1392C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|7/16|c.1392C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|8/16|c.1392C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|10/16|c.1392C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|9/16|c.1392C>T||||||,T|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript||n.-1C>T|||||593|,T|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000445494|protein_coding||c.*808C>T|||||3684|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000489812|processed_transcript||n.*853C>T|||||3934| 22 38322014 . C T . . ANN=T|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|8/16|c.1429C>T|p.Arg477Cys|1555/4710|1429/2592|477/863||,T|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding|1/7|c.160C>T|p.Arg54Cys|161/1108|160/1107|54/368||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|6/16|c.1429C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|7/16|c.1429C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|8/16|c.1429C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|10/16|c.1429C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|9/16|c.1429C>T||||||,T|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript||n.-1C>T|||||556|,T|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000445494|protein_coding||c.*808C>T|||||3721|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000489812|processed_transcript||n.*853C>T|||||3971| 22 38322090 . C T . . ANN=T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|6/16|c.1465+40C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|7/16|c.1465+40C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|8/16|c.1465+40C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|10/16|c.1465+40C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|9/16|c.1465+40C>T||||||,T|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript||n.-1C>T|||||480|,T|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000445494|protein_coding||c.*808C>T|||||3797|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000489812|processed_transcript||n.*853C>T|||||4047|,T|intron_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|8/15|c.1465+40C>T||||||,T|intron_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding|1/6|c.196+40C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 38323458 . G A . . ANN=A|synonymous_variant|LOW|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|9/16|c.1506G>A|p.Ser502Ser|1632/4710|1506/2592|502/863||,A|synonymous_variant|LOW|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding|2/7|c.237G>A|p.Ser79Ser|238/1108|237/1107|79/368||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|6/16|c.1506G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|7/16|c.1506G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|8/16|c.1506G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|10/16|c.1506G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|9/16|c.1506G>A||||||,A|non_coding_exon_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript|2/10|n.605G>A|||||| 22 38323475 . C T . . ANN=T|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|9/16|c.1523C>T|p.Ala508Val|1649/4710|1523/2592|508/863||,T|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding|2/7|c.254C>T|p.Ala85Val|255/1108|254/1107|85/368||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|6/16|c.1523C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|7/16|c.1523C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|8/16|c.1523C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|10/16|c.1523C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|9/16|c.1523C>T||||||,T|non_coding_exon_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript|2/10|n.622C>T|||||| 22 38323483 . G A . . ANN=A|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|9/16|c.1531G>A|p.Val511Met|1657/4710|1531/2592|511/863||,A|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding|2/7|c.262G>A|p.Val88Met|263/1108|262/1107|88/368||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|6/16|c.1531G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|7/16|c.1531G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|8/16|c.1531G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|10/16|c.1531G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|9/16|c.1531G>A||||||,A|non_coding_exon_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript|2/10|n.630G>A|||||| 22 38323507 . G T . . ANN=T|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|9/16|c.1555G>T|p.Ala519Ser|1681/4710|1555/2592|519/863||,T|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding|2/7|c.286G>T|p.Ala96Ser|287/1108|286/1107|96/368||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|6/16|c.1555G>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|7/16|c.1555G>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|8/16|c.1555G>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|10/16|c.1555G>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|9/16|c.1555G>T||||||,T|non_coding_exon_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript|2/10|n.654G>T|||||| 22 38323554 . C T . . ANN=T|synonymous_variant|LOW|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|9/16|c.1602C>T|p.Pro534Pro|1728/4710|1602/2592|534/863||,T|synonymous_variant|LOW|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding|2/7|c.333C>T|p.Pro111Pro|334/1108|333/1107|111/368||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|6/16|c.1602C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|7/16|c.1602C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|8/16|c.1602C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|10/16|c.1602C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|9/16|c.1602C>T||||||,T|non_coding_exon_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript|2/10|n.701C>T|||||| 22 38323611 . C T . . ANN=T|synonymous_variant|LOW|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|9/16|c.1659C>T|p.Ser553Ser|1785/4710|1659/2592|553/863||,T|synonymous_variant|LOW|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding|2/7|c.390C>T|p.Ser130Ser|391/1108|390/1107|130/368||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|6/16|c.1659C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|7/16|c.1659C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|8/16|c.1659C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|10/16|c.1659C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|9/16|c.1659C>T||||||,T|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000424008|protein_coding||c.-1C>T|||||4991|WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript|2/10|n.758C>T|||||| 22 38323700 . C T . . ANN=T|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|9/16|c.1748C>T|p.Pro583Leu|1874/4710|1748/2592|583/863||,T|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding|2/7|c.479C>T|p.Pro160Leu|480/1108|479/1107|160/368||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|6/16|c.1748C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|7/16|c.1748C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|8/16|c.1748C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|10/16|c.1748C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|9/16|c.1748C>T||||||,T|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000424008|protein_coding||c.-1C>T|||||4902|WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript|2/10|n.847C>T|||||| 22 38323784 . G A . . ANN=A|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|9/16|c.1832G>A|p.Arg611Lys|1958/4710|1832/2592|611/863||,A|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding|2/7|c.563G>A|p.Arg188Lys|564/1108|563/1107|188/368||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|6/16|c.1832G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|7/16|c.1832G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|8/16|c.1832G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|10/16|c.1832G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|9/16|c.1832G>A||||||,A|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000424008|protein_coding||c.-1G>A|||||4818|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript|2/10|n.931G>A|||||| 22 38323847 . C T . . ANN=T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|6/16|c.1881+14C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|7/16|c.1881+14C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|8/16|c.1881+14C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|10/16|c.1881+14C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|9/16|c.1881+14C>T||||||,T|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000424008|protein_coding||c.-1C>T|||||4755|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|9/15|c.1881+14C>T||||||,T|intron_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding|2/6|c.606+20C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript|2/9|n.980+14C>T|||||| 22 38327867 . A C . . ANN=C|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|10/16|c.1943A>C|p.Lys648Thr|2069/4710|1943/2592|648/863||,C|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding|3/7|c.668A>C|p.Lys223Thr|669/1108|668/1107|223/368||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|6/16|c.1943A>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|7/16|c.1943A>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|8/16|c.1943A>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|10/16|c.1943A>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|9/16|c.1943A>C||||||,C|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000424008|protein_coding||c.-1A>C|||||735|WARNING_TRANSCRIPT_NO_START_CODON,C|non_coding_exon_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript|3/10|n.1042A>C|||||| 22 38327893 . G C . . ANN=C|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|10/16|c.1969G>C|p.Val657Leu|2095/4710|1969/2592|657/863||,C|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding|3/7|c.694G>C|p.Val232Leu|695/1108|694/1107|232/368||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|6/16|c.1969G>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|7/16|c.1969G>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|8/16|c.1969G>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|10/16|c.1969G>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|9/16|c.1969G>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|16/16|c.1969G>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|14/16|c.1969G>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|12/16|c.1969G>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|13/16|c.1969G>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|15/16|c.1969G>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|10/16|c.1969G>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|11/16|c.1969G>C||||||,C|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000424008|protein_coding||c.-1G>C|||||709|WARNING_TRANSCRIPT_NO_START_CODON,C|non_coding_exon_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript|3/10|n.1068G>C|||||| 22 38327894 . T C . . ANN=C|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|10/16|c.1970T>C|p.Val657Ala|2096/4710|1970/2592|657/863||,C|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding|3/7|c.695T>C|p.Val232Ala|696/1108|695/1107|232/368||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|6/16|c.1970T>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|7/16|c.1970T>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|8/16|c.1970T>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|10/16|c.1970T>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|9/16|c.1970T>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|16/16|c.1970T>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|14/16|c.1970T>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|12/16|c.1970T>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|13/16|c.1970T>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|15/16|c.1970T>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|10/16|c.1970T>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|11/16|c.1970T>C||||||,C|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000424008|protein_coding||c.-1T>C|||||708|WARNING_TRANSCRIPT_NO_START_CODON,C|non_coding_exon_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript|3/10|n.1069T>C|||||| 22 38327929 . A C . . ANN=C|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|10/16|c.2005A>C|p.Ile669Leu|2131/4710|2005/2592|669/863||,C|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding|3/7|c.730A>C|p.Ile244Leu|731/1108|730/1107|244/368||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|16/16|c.2005A>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|14/16|c.2005A>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|12/16|c.2005A>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|13/16|c.2005A>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|15/16|c.2005A>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|10/16|c.2005A>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|11/16|c.2005A>C||||||,C|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000424008|protein_coding||c.-1A>C|||||673|WARNING_TRANSCRIPT_NO_START_CODON,C|non_coding_exon_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript|3/10|n.1104A>C|||||| 22 38327978 . G A . . ANN=A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|16/16|c.2016+38G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|14/16|c.2016+38G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|12/16|c.2016+38G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|13/16|c.2016+38G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|15/16|c.2016+38G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|10/16|c.2016+38G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|11/16|c.2016+38G>A||||||,A|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000424008|protein_coding||c.-1G>A|||||624|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|10/15|c.2016+38G>A||||||,A|intron_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding|3/6|c.741+38G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript|3/9|n.1115+38G>A|||||| 22 38328575 . T C . . ANN=C|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|11/16|c.2032T>C|p.Tyr678His|2158/4710|2032/2592|678/863||,C|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding|4/7|c.757T>C|p.Tyr253His|758/1108|757/1107|253/368||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|16/16|c.2032T>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|14/16|c.2032T>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|12/16|c.2032T>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|13/16|c.2032T>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|15/16|c.2032T>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|10/16|c.2032T>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|11/16|c.2032T>C||||||,C|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000424008|protein_coding||c.-1T>C|||||27|WARNING_TRANSCRIPT_NO_START_CODON,C|non_coding_exon_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript|4/10|n.1131T>C|||||| 22 38328597 . A G . . ANN=G|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|11/16|c.2054A>G|p.His685Arg|2180/4710|2054/2592|685/863||,G|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding|4/7|c.779A>G|p.His260Arg|780/1108|779/1107|260/368||WARNING_TRANSCRIPT_NO_START_CODON,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|16/16|c.2054A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|14/16|c.2054A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|12/16|c.2054A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|13/16|c.2054A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|15/16|c.2054A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|10/16|c.2054A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|11/16|c.2054A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|coiled-coil_region|ENST00000215957|protein_coding|11/16|c.2054A>G||||||,G|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000424008|protein_coding||c.-1A>G|||||5|WARNING_TRANSCRIPT_NO_START_CODON,G|non_coding_exon_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript|4/10|n.1153A>G|||||| 22 38328618 . A G . . ANN=G|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|11/16|c.2075A>G|p.Glu692Gly|2201/4710|2075/2592|692/863||,G|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding|4/7|c.800A>G|p.Glu267Gly|801/1108|800/1107|267/368||WARNING_TRANSCRIPT_NO_START_CODON,G|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000424008|protein_coding|1/6|c.17A>G|p.Glu6Gly|17/918|17/561|6/186||WARNING_TRANSCRIPT_NO_START_CODON,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|16/16|c.2075A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|14/16|c.2075A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|12/16|c.2075A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|13/16|c.2075A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|15/16|c.2075A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|10/16|c.2075A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|11/16|c.2075A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|coiled-coil_region|ENST00000215957|protein_coding|11/16|c.2075A>G||||||,G|non_coding_exon_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript|4/10|n.1174A>G|||||| 22 38328676 . C T . . ANN=T|synonymous_variant|LOW|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|11/16|c.2133C>T|p.Gly711Gly|2259/4710|2133/2592|711/863||,T|synonymous_variant|LOW|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding|4/7|c.858C>T|p.Gly286Gly|859/1108|858/1107|286/368||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|MICALL1|ENSG00000100139|transcript|ENST00000424008|protein_coding|1/6|c.75C>T|p.Gly25Gly|75/918|75/561|25/186||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|16/16|c.2133C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|14/16|c.2133C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|12/16|c.2133C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|13/16|c.2133C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|15/16|c.2133C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|10/16|c.2133C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|11/16|c.2133C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|coiled-coil_region|ENST00000215957|protein_coding|11/16|c.2133C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|16/16|c.2133C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|14/16|c.2133C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|12/16|c.2133C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|13/16|c.2133C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|15/16|c.2133C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|11/16|c.2133C>T||||||,T|non_coding_exon_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript|4/10|n.1232C>T|||||| 22 38329072 . G A . . ANN=A|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|13/16|c.2261G>A|p.Arg754His|2387/4710|2261/2592|754/863||,A|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding|6/7|c.986G>A|p.Arg329His|987/1108|986/1107|329/368||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000424008|protein_coding|3/6|c.203G>A|p.Arg68His|203/918|203/561|68/186||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|16/16|c.2261G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|14/16|c.2261G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|12/16|c.2261G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|13/16|c.2261G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|15/16|c.2261G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|10/16|c.2261G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|11/16|c.2261G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|16/16|c.2261G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|14/16|c.2261G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|12/16|c.2261G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|13/16|c.2261G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|15/16|c.2261G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|11/16|c.2261G>A||||||,A|non_coding_exon_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript|6/10|n.1360G>A|||||| 22 38333103 . G A . . ANN=A|synonymous_variant|LOW|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|14/16|c.2325G>A|p.Glu775Glu|2451/4710|2325/2592|775/863||,A|synonymous_variant|LOW|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding|7/7|c.1050G>A|p.Glu350Glu|1051/1108|1050/1107|350/368||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|MICALL1|ENSG00000100139|transcript|ENST00000424008|protein_coding|4/6|c.267G>A|p.Glu89Glu|267/918|267/561|89/186||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|16/16|c.2325G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|14/16|c.2325G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|12/16|c.2325G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|13/16|c.2325G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|15/16|c.2325G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|10/16|c.2325G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|11/16|c.2325G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|16/16|c.2325G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|14/16|c.2325G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|12/16|c.2325G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|13/16|c.2325G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|15/16|c.2325G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|11/16|c.2325G>A||||||,A|non_coding_exon_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript|7/10|n.1424G>A|||||| 22 38333177 . A G . . ANN=G|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|14/16|c.2399A>G|p.Asn800Ser|2525/4710|2399/2592|800/863||,G|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000424008|protein_coding|4/6|c.341A>G|p.Asn114Ser|341/918|341/561|114/186||WARNING_TRANSCRIPT_NO_START_CODON,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|16/16|c.2399A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|14/16|c.2399A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|12/16|c.2399A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|13/16|c.2399A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|15/16|c.2399A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|10/16|c.2399A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|11/16|c.2399A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|16/16|c.2399A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|14/16|c.2399A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|12/16|c.2399A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|13/16|c.2399A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|15/16|c.2399A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|11/16|c.2399A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|coiled-coil_region|ENST00000215957|protein_coding|16/16|c.2399A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|coiled-coil_region|ENST00000215957|protein_coding|14/16|c.2399A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|coiled-coil_region|ENST00000215957|protein_coding|15/16|c.2399A>G||||||,G|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding||c.*1108A>G|||||17|WARNING_TRANSCRIPT_NO_START_CODON,G|non_coding_exon_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript|7/10|n.1498A>G|||||| 22 38336713 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|15/15|c.2471-3C>T||||||,T|splice_region_variant&intron_variant|LOW|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript|8/9|n.1570-3C>T||||||,T|splice_region_variant&intron_variant|LOW|MICALL1|ENSG00000100139|transcript|ENST00000424008|protein_coding|5/5|c.440-3C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|16/16|c.2471-3C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|14/16|c.2471-3C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|12/16|c.2471-3C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|13/16|c.2471-3C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|15/16|c.2471-3C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|10/16|c.2471-3C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|11/16|c.2471-3C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|16/16|c.2471-3C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|14/16|c.2471-3C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|12/16|c.2471-3C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|13/16|c.2471-3C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|15/16|c.2471-3C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|11/16|c.2471-3C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|coiled-coil_region|ENST00000215957|protein_coding|16/16|c.2471-3C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|coiled-coil_region|ENST00000215957|protein_coding|14/16|c.2471-3C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|coiled-coil_region|ENST00000215957|protein_coding|15/16|c.2471-3C>T||||||,T|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000249079|protein_coding||c.*911G>A|||||2820|,T|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding||c.*1108C>T|||||3553|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000403305|protein_coding||c.*863G>A|||||2815|,T|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000403026|protein_coding||c.*715G>A|||||3419|,T|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000418863|protein_coding||c.*563G>A|||||3807|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000422191|protein_coding||c.*758G>A|||||4455|WARNING_TRANSCRIPT_INCOMPLETE 22 38336720 . C A . . ANN=A|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|16/16|c.2475C>A|p.Phe825Leu|2601/4710|2475/2592|825/863||,A|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000424008|protein_coding|6/6|c.444C>A|p.Phe148Leu|444/918|444/561|148/186||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|16/16|c.2475C>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|14/16|c.2475C>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|12/16|c.2475C>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|13/16|c.2475C>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|15/16|c.2475C>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|10/16|c.2475C>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|11/16|c.2475C>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|16/16|c.2475C>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|14/16|c.2475C>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|12/16|c.2475C>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|13/16|c.2475C>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|15/16|c.2475C>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|11/16|c.2475C>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|coiled-coil_region|ENST00000215957|protein_coding|16/16|c.2475C>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|coiled-coil_region|ENST00000215957|protein_coding|14/16|c.2475C>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|coiled-coil_region|ENST00000215957|protein_coding|15/16|c.2475C>A||||||,A|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000249079|protein_coding||c.*911G>T|||||2813|,A|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding||c.*1108C>A|||||3560|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000403305|protein_coding||c.*863G>T|||||2808|,A|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000403026|protein_coding||c.*715G>T|||||3412|,A|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000418863|protein_coding||c.*563G>T|||||3800|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000422191|protein_coding||c.*758G>T|||||4448|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript|9/10|n.1574C>A|||||| 22 38336794 . A G . . ANN=G|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|16/16|c.2549A>G|p.Asn850Ser|2675/4710|2549/2592|850/863||,G|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000424008|protein_coding|6/6|c.518A>G|p.Asn173Ser|518/918|518/561|173/186||WARNING_TRANSCRIPT_NO_START_CODON,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|16/16|c.2549A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|14/16|c.2549A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|12/16|c.2549A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|13/16|c.2549A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|15/16|c.2549A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|10/16|c.2549A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|11/16|c.2549A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|16/16|c.2549A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|14/16|c.2549A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|12/16|c.2549A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|13/16|c.2549A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|15/16|c.2549A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|11/16|c.2549A>G||||||,G|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000249079|protein_coding||c.*911T>C|||||2739|,G|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding||c.*1108A>G|||||3634|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000403305|protein_coding||c.*863T>C|||||2734|,G|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000403026|protein_coding||c.*715T>C|||||3338|,G|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000418863|protein_coding||c.*563T>C|||||3726|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000422191|protein_coding||c.*758T>C|||||4374|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript|9/10|n.1648A>G|||||| 22 38336854 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|16/16|c.*17T>C|||||17|,C|3_prime_UTR_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000424008|protein_coding|6/6|c.*17T>C|||||17|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000249079|protein_coding||c.*911A>G|||||2679|,C|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding||c.*1108T>C|||||3694|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000403305|protein_coding||c.*863A>G|||||2674|,C|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000403026|protein_coding||c.*715A>G|||||3278|,C|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000418863|protein_coding||c.*563A>G|||||3666|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000422191|protein_coding||c.*758A>G|||||4314|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript|9/10|n.1708T>C|||||| 22 38336868 . C G . . ANN=G|3_prime_UTR_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|16/16|c.*31C>G|||||31|,G|3_prime_UTR_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000424008|protein_coding|6/6|c.*31C>G|||||31|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000249079|protein_coding||c.*911G>C|||||2665|,G|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding||c.*1108C>G|||||3708|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000403305|protein_coding||c.*863G>C|||||2660|,G|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000403026|protein_coding||c.*715G>C|||||3264|,G|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000418863|protein_coding||c.*563G>C|||||3652|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000422191|protein_coding||c.*758G>C|||||4300|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript|9/10|n.1722C>G|||||| 22 38340134 . G A . . ANN=A|splice_region_variant|LOW|C22orf23|ENSG00000128346|transcript|ENST00000403026|protein_coding|7/7|c.*48C>T||||||,A|3_prime_UTR_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000249079|protein_coding|7/7|c.*48C>T|||||48|,A|3_prime_UTR_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000403305|protein_coding|7/7|c.*48C>T|||||48|,A|3_prime_UTR_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000403026|protein_coding|7/7|c.*48C>T|||||48|,A|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding||c.*2718G>A|||||1305|,A|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript||n.*2734G>A|||||2118|,A|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000424008|protein_coding||c.*561G>A|||||2940|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000418863|protein_coding||c.*563C>T|||||386|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000422191|protein_coding||c.*758C>T|||||1034|WARNING_TRANSCRIPT_INCOMPLETE 22 38340167 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000249079|protein_coding|7/7|c.*15C>T|||||15|,A|3_prime_UTR_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000403305|protein_coding|7/7|c.*15C>T|||||15|,A|3_prime_UTR_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000403026|protein_coding|7/7|c.*15C>T|||||15|,A|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding||c.*2718G>A|||||1338|,A|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript||n.*2734G>A|||||2151|,A|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000424008|protein_coding||c.*561G>A|||||2973|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000418863|protein_coding||c.*563C>T|||||353|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000422191|protein_coding||c.*758C>T|||||1001|WARNING_TRANSCRIPT_INCOMPLETE 22 38340186 . G A . . ANN=A|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000249079|protein_coding|7/7|c.650C>T|p.Thr217Ile|907/1560|650/654|217/217||,A|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000403305|protein_coding|7/7|c.650C>T|p.Thr217Ile|859/1517|650/654|217/217||,A|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000403026|protein_coding|7/7|c.650C>T|p.Thr217Ile|711/765|650/654|217/217||,A|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding||c.*2718G>A|||||1357|,A|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript||n.*2734G>A|||||2170|,A|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000424008|protein_coding||c.*561G>A|||||2992|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000418863|protein_coding||c.*563C>T|||||334|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000422191|protein_coding||c.*758C>T|||||982|WARNING_TRANSCRIPT_INCOMPLETE 22 38340452 . C T . . ANN=T|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000249079|protein_coding|6/7|c.554G>A|p.Arg185Gln|811/1560|554/654|185/217||,T|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000403305|protein_coding|6/7|c.554G>A|p.Arg185Gln|763/1517|554/654|185/217||,T|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000403026|protein_coding|6/7|c.554G>A|p.Arg185Gln|615/765|554/654|185/217||,T|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding||c.*2718C>T|||||1623|,T|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript||n.*2734C>T|||||2436|,T|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000424008|protein_coding||c.*561C>T|||||3258|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000418863|protein_coding||c.*563G>A|||||68|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000422191|protein_coding||c.*758G>A|||||716|WARNING_TRANSCRIPT_INCOMPLETE 22 38340454 . G A . . ANN=A|synonymous_variant|LOW|C22orf23|ENSG00000128346|transcript|ENST00000249079|protein_coding|6/7|c.552C>T|p.Tyr184Tyr|809/1560|552/654|184/217||,A|synonymous_variant|LOW|C22orf23|ENSG00000128346|transcript|ENST00000403305|protein_coding|6/7|c.552C>T|p.Tyr184Tyr|761/1517|552/654|184/217||,A|synonymous_variant|LOW|C22orf23|ENSG00000128346|transcript|ENST00000403026|protein_coding|6/7|c.552C>T|p.Tyr184Tyr|613/765|552/654|184/217||,A|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding||c.*2718G>A|||||1625|,A|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript||n.*2734G>A|||||2438|,A|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000424008|protein_coding||c.*561G>A|||||3260|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000418863|protein_coding||c.*563C>T|||||66|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000422191|protein_coding||c.*758C>T|||||714|WARNING_TRANSCRIPT_INCOMPLETE 22 38340508 . CT C . . ANN=|frameshift_variant|HIGH|C22orf23|ENSG00000128346|transcript|ENST00000249079|protein_coding|6/7|c.497delA|p.Gln166fs|754/1560|497/654|166/217||,|frameshift_variant|HIGH|C22orf23|ENSG00000128346|transcript|ENST00000403305|protein_coding|6/7|c.497delA|p.Gln166fs|706/1517|497/654|166/217||,|frameshift_variant|HIGH|C22orf23|ENSG00000128346|transcript|ENST00000403026|protein_coding|6/7|c.497delA|p.Gln166fs|558/765|497/654|166/217||,|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding||c.*2718delT|||||1680|,|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript||n.*2734delT|||||2493|,|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000424008|protein_coding||c.*561delT|||||3315|WARNING_TRANSCRIPT_NO_START_CODON,|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000418863|protein_coding||c.*563delA|||||11|WARNING_TRANSCRIPT_NO_STOP_CODON,|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000422191|protein_coding||c.*758delA|||||659|WARNING_TRANSCRIPT_INCOMPLETE;LOF=(C22orf23|ENSG00000128346|5|0.60) 22 38340541 . G A . . ANN=A|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding||c.*2718G>A|||||1712|,A|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript||n.*2734G>A|||||2525|,A|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000424008|protein_coding||c.*561G>A|||||3347|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000422191|protein_coding||c.*758C>T|||||627|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000249079|protein_coding|5/6|c.482-17C>T||||||,A|intron_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000403305|protein_coding|5/6|c.482-17C>T||||||,A|intron_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000403026|protein_coding|5/6|c.482-17C>T||||||,A|intron_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000418863|protein_coding|5/5|c.482-17C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 38340573 . G A . . ANN=A|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding||c.*2718G>A|||||1744|,A|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript||n.*2734G>A|||||2557|,A|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000424008|protein_coding||c.*561G>A|||||3379|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000422191|protein_coding||c.*758C>T|||||595|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000249079|protein_coding|5/6|c.482-49C>T||||||,A|intron_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000403305|protein_coding|5/6|c.482-49C>T||||||,A|intron_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000403026|protein_coding|5/6|c.482-49C>T||||||,A|intron_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000418863|protein_coding|5/5|c.482-49C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 38341017 . C G . . ANN=G|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding||c.*2718C>G|||||2188|,G|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript||n.*2734C>G|||||3001|,G|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000424008|protein_coding||c.*561C>G|||||3823|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000422191|protein_coding||c.*758G>C|||||151|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000249079|protein_coding|5/6|c.481+32G>C||||||,G|intron_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000403305|protein_coding|5/6|c.481+32G>C||||||,G|intron_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000403026|protein_coding|5/6|c.481+32G>C||||||,G|intron_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000418863|protein_coding|5/5|c.481+32G>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 38341038 . C G . . ANN=G|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding||c.*2718C>G|||||2209|,G|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript||n.*2734C>G|||||3022|,G|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000424008|protein_coding||c.*561C>G|||||3844|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000422191|protein_coding||c.*758G>C|||||130|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000249079|protein_coding|5/6|c.481+11G>C||||||,G|intron_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000403305|protein_coding|5/6|c.481+11G>C||||||,G|intron_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000403026|protein_coding|5/6|c.481+11G>C||||||,G|intron_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000418863|protein_coding|5/5|c.481+11G>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 38341124 . T G . . ANN=G|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000249079|protein_coding|5/7|c.406A>C|p.Met136Leu|663/1560|406/654|136/217||,G|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000403305|protein_coding|5/7|c.406A>C|p.Met136Leu|615/1517|406/654|136/217||,G|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000403026|protein_coding|5/7|c.406A>C|p.Met136Leu|467/765|406/654|136/217||,G|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000418863|protein_coding|5/6|c.406A>C|p.Met136Leu|483/563|406/486|136/161||WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding||c.*2718T>G|||||2295|,G|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript||n.*2734T>G|||||3108|,G|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000424008|protein_coding||c.*561T>G|||||3930|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000422191|protein_coding||c.*758A>C|||||44|WARNING_TRANSCRIPT_INCOMPLETE 22 38341134 . T C . . ANN=C|synonymous_variant|LOW|C22orf23|ENSG00000128346|transcript|ENST00000249079|protein_coding|5/7|c.396A>G|p.Thr132Thr|653/1560|396/654|132/217||,C|synonymous_variant|LOW|C22orf23|ENSG00000128346|transcript|ENST00000403305|protein_coding|5/7|c.396A>G|p.Thr132Thr|605/1517|396/654|132/217||,C|synonymous_variant|LOW|C22orf23|ENSG00000128346|transcript|ENST00000403026|protein_coding|5/7|c.396A>G|p.Thr132Thr|457/765|396/654|132/217||,C|synonymous_variant|LOW|C22orf23|ENSG00000128346|transcript|ENST00000418863|protein_coding|5/6|c.396A>G|p.Thr132Thr|473/563|396/486|132/161||WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding||c.*2718T>C|||||2305|,C|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript||n.*2734T>C|||||3118|,C|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000424008|protein_coding||c.*561T>C|||||3940|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000422191|protein_coding||c.*758A>G|||||34|WARNING_TRANSCRIPT_INCOMPLETE 22 38341225 . C A . . ANN=A|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding||c.*2718C>A|||||2396|,A|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript||n.*2734C>A|||||3209|,A|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000424008|protein_coding||c.*561C>A|||||4031|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000249079|protein_coding|4/6|c.350-45G>T||||||,A|intron_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000403305|protein_coding|4/6|c.350-45G>T||||||,A|intron_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000403026|protein_coding|4/6|c.350-45G>T||||||,A|intron_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000418863|protein_coding|4/5|c.350-45G>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000422191|protein_coding|3/3|c.350-45G>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 38347490 . C A . . ANN=A|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000249079|protein_coding|3/7|c.143G>T|p.Arg48Leu|400/1560|143/654|48/217||,A|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000403305|protein_coding|3/7|c.143G>T|p.Arg48Leu|352/1517|143/654|48/217||,A|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000403026|protein_coding|3/7|c.143G>T|p.Arg48Leu|204/765|143/654|48/217||,A|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000418863|protein_coding|3/6|c.143G>T|p.Arg48Leu|220/563|143/486|48/161||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000422191|protein_coding|2/4|c.143G>T|p.Arg48Leu|539/758|143/362|48/119||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000407936|protein_coding||c.-92C>A|||||2214|,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000484894|processed_transcript||n.-1C>A|||||1124|,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000442738|protein_coding||c.-126C>A|||||2180|,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000460648|protein_coding||c.-92C>A|||||2214|,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000488684|protein_coding||c.-90C>A|||||2216|,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000492213|protein_coding||c.-215C>A|||||2216|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000483713|nonsense_mediated_decay||n.-90C>A|||||2216|,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000443002|nonsense_mediated_decay||n.-90C>A|||||2216|,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000606538|protein_coding||c.-78C>A|||||2228|,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000405557|protein_coding||c.-78C>A|||||2228|,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000470701|protein_coding||c.-130C>A|||||2244|,A|non_coding_exon_variant|MODIFIER|RP5-1039K5.17|ENSG00000272582|transcript|ENST00000609976|antisense|1/1|n.519C>A|||||| 22 38347491 . G A . . ANN=A|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000249079|protein_coding|3/7|c.142C>T|p.Arg48Cys|399/1560|142/654|48/217||,A|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000403305|protein_coding|3/7|c.142C>T|p.Arg48Cys|351/1517|142/654|48/217||,A|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000403026|protein_coding|3/7|c.142C>T|p.Arg48Cys|203/765|142/654|48/217||,A|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000418863|protein_coding|3/6|c.142C>T|p.Arg48Cys|219/563|142/486|48/161||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000422191|protein_coding|2/4|c.142C>T|p.Arg48Cys|538/758|142/362|48/119||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000407936|protein_coding||c.-92G>A|||||2213|,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000484894|processed_transcript||n.-1G>A|||||1123|,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000442738|protein_coding||c.-126G>A|||||2179|,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000460648|protein_coding||c.-92G>A|||||2213|,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000488684|protein_coding||c.-90G>A|||||2215|,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000492213|protein_coding||c.-215G>A|||||2215|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000483713|nonsense_mediated_decay||n.-90G>A|||||2215|,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000443002|nonsense_mediated_decay||n.-90G>A|||||2215|,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000606538|protein_coding||c.-78G>A|||||2227|,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000405557|protein_coding||c.-78G>A|||||2227|,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000470701|protein_coding||c.-130G>A|||||2243|,A|non_coding_exon_variant|MODIFIER|RP5-1039K5.17|ENSG00000272582|transcript|ENST00000609976|antisense|1/1|n.520G>A|||||| 22 38349030 . G A . . ANN=A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000407936|protein_coding||c.-92G>A|||||674|,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000442738|protein_coding||c.-126G>A|||||640|,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000460648|protein_coding||c.-92G>A|||||674|,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000488684|protein_coding||c.-90G>A|||||676|,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000492213|protein_coding||c.-215G>A|||||676|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000483713|nonsense_mediated_decay||n.-90G>A|||||676|,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000443002|nonsense_mediated_decay||n.-90G>A|||||676|,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000606538|protein_coding||c.-78G>A|||||688|,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000405557|protein_coding||c.-78G>A|||||688|,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000470701|protein_coding||c.-130G>A|||||704|,A|downstream_gene_variant|MODIFIER|RP5-1039K5.17|ENSG00000272582|transcript|ENST00000609976|antisense||n.*814G>A|||||1245|,A|intron_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000249079|protein_coding|2/6|c.103+24C>T||||||,A|intron_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000403305|protein_coding|2/6|c.103+24C>T||||||,A|intron_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000403026|protein_coding|2/6|c.103+24C>T||||||,A|intron_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000418863|protein_coding|2/5|c.103+24C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000422191|protein_coding|1/3|c.103+24C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000484894|processed_transcript|1/4|n.209+208G>A|||||| 22 38349068 . C G . . ANN=G|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000249079|protein_coding|2/7|c.89G>C|p.Cys30Ser|346/1560|89/654|30/217||,G|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000403305|protein_coding|2/7|c.89G>C|p.Cys30Ser|298/1517|89/654|30/217||,G|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000403026|protein_coding|2/7|c.89G>C|p.Cys30Ser|150/765|89/654|30/217||,G|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000418863|protein_coding|2/6|c.89G>C|p.Cys30Ser|166/563|89/486|30/161||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000422191|protein_coding|1/4|c.89G>C|p.Cys30Ser|485/758|89/362|30/119||WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000407936|protein_coding||c.-92C>G|||||636|,G|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000442738|protein_coding||c.-126C>G|||||602|,G|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000460648|protein_coding||c.-92C>G|||||636|,G|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000488684|protein_coding||c.-90C>G|||||638|,G|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000492213|protein_coding||c.-215C>G|||||638|WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000483713|nonsense_mediated_decay||n.-90C>G|||||638|,G|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000443002|nonsense_mediated_decay||n.-90C>G|||||638|,G|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000606538|protein_coding||c.-78C>G|||||650|,G|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000405557|protein_coding||c.-78C>G|||||650|,G|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000470701|protein_coding||c.-130C>G|||||666|,G|downstream_gene_variant|MODIFIER|RP5-1039K5.17|ENSG00000272582|transcript|ENST00000609976|antisense||n.*814C>G|||||1283|,G|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000484894|processed_transcript|1/4|n.209+246C>G|||||| 22 38349099 . G C . . ANN=C|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000249079|protein_coding|2/7|c.58C>G|p.Pro20Ala|315/1560|58/654|20/217||,C|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000403305|protein_coding|2/7|c.58C>G|p.Pro20Ala|267/1517|58/654|20/217||,C|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000403026|protein_coding|2/7|c.58C>G|p.Pro20Ala|119/765|58/654|20/217||,C|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000418863|protein_coding|2/6|c.58C>G|p.Pro20Ala|135/563|58/486|20/161||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000422191|protein_coding|1/4|c.58C>G|p.Pro20Ala|454/758|58/362|20/119||WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000407936|protein_coding||c.-92G>C|||||605|,C|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000442738|protein_coding||c.-126G>C|||||571|,C|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000460648|protein_coding||c.-92G>C|||||605|,C|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000488684|protein_coding||c.-90G>C|||||607|,C|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000492213|protein_coding||c.-215G>C|||||607|WARNING_TRANSCRIPT_NO_STOP_CODON,C|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000483713|nonsense_mediated_decay||n.-90G>C|||||607|,C|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000443002|nonsense_mediated_decay||n.-90G>C|||||607|,C|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000606538|protein_coding||c.-78G>C|||||619|,C|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000405557|protein_coding||c.-78G>C|||||619|,C|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000470701|protein_coding||c.-130G>C|||||635|,C|downstream_gene_variant|MODIFIER|RP5-1039K5.17|ENSG00000272582|transcript|ENST00000609976|antisense||n.*814G>C|||||1314|,C|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000484894|processed_transcript|1/4|n.209+277G>C|||||| 22 38349162 . G T . . ANN=T|5_prime_UTR_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000249079|protein_coding|2/7|c.-6C>A|||||6|,T|5_prime_UTR_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000403305|protein_coding|2/7|c.-6C>A|||||6|,T|5_prime_UTR_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000403026|protein_coding|2/7|c.-6C>A|||||6|,T|5_prime_UTR_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000418863|protein_coding|2/6|c.-6C>A|||||6|WARNING_TRANSCRIPT_NO_STOP_CODON,T|5_prime_UTR_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000422191|protein_coding|1/4|c.-6C>A|||||6|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000407936|protein_coding||c.-92G>T|||||542|,T|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000442738|protein_coding||c.-126G>T|||||508|,T|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000460648|protein_coding||c.-92G>T|||||542|,T|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000488684|protein_coding||c.-90G>T|||||544|,T|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000492213|protein_coding||c.-215G>T|||||544|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000483713|nonsense_mediated_decay||n.-90G>T|||||544|,T|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000443002|nonsense_mediated_decay||n.-90G>T|||||544|,T|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000606538|protein_coding||c.-78G>T|||||556|,T|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000405557|protein_coding||c.-78G>T|||||556|,T|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000470701|protein_coding||c.-130G>T|||||572|,T|downstream_gene_variant|MODIFIER|RP5-1039K5.17|ENSG00000272582|transcript|ENST00000609976|antisense||n.*814G>T|||||1377|,T|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000484894|processed_transcript|1/4|n.209+340G>T|||||| 22 38352789 . C T . . ANN=T|synonymous_variant|LOW|POLR2F|ENSG00000100142|transcript|ENST00000407936|protein_coding|2/6|c.30C>T|p.Gly10Gly|121/582|30/477|10/158||,T|synonymous_variant|LOW|POLR2F|ENSG00000100142|transcript|ENST00000442738|protein_coding|2/5|c.30C>T|p.Gly10Gly|155/2106|30/384|10/127||,T|synonymous_variant|LOW|POLR2F|ENSG00000100142|transcript|ENST00000460648|protein_coding|2/3|c.30C>T|p.Gly10Gly|121/518|30/225|10/74||,T|synonymous_variant|LOW|POLR2F|ENSG00000100142|transcript|ENST00000488684|protein_coding|2/4|c.30C>T|p.Gly10Gly|119/564|30/231|10/76||,T|synonymous_variant|LOW|POLR2F|ENSG00000100142|transcript|ENST00000606538|protein_coding|2/4|c.30C>T|p.Gly10Gly|107/760|30/297|10/98||,T|synonymous_variant|LOW|POLR2F|ENSG00000100142|transcript|ENST00000405557|protein_coding|2/5|c.30C>T|p.Gly10Gly|107/560|30/381|10/126||,T|synonymous_variant|LOW|POLR2F|ENSG00000100142|transcript|ENST00000470701|protein_coding|2/5|c.15C>T|p.Gly5Gly|144/584|15/369|5/122||,T|5_prime_UTR_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000492213|protein_coding|2/6|c.-96C>T|||||1627|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000249079|protein_coding||c.-258G>A|||||3186|,T|upstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000403305|protein_coding||c.-210G>A|||||3135|,T|upstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000403026|protein_coding||c.-62G>A|||||3113|,T|upstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000418863|protein_coding||c.-78G>A|||||3181|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000422191|protein_coding||c.-397G>A|||||3237|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000484894|processed_transcript|2/5|n.219C>T||||||,T|non_coding_exon_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000483713|nonsense_mediated_decay|2/5|n.30C>T||||||,T|non_coding_exon_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000443002|nonsense_mediated_decay|2/8|n.30C>T|||||| 22 38355317 . C T . . ANN=T|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000407936|protein_coding|2/5|c.91-36C>T||||||,T|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000484894|processed_transcript|2/4|n.280-36C>T||||||,T|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000442738|protein_coding|2/4|c.91-36C>T||||||,T|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000460648|protein_coding|2/2|c.149+2409C>T||||||,T|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000488684|protein_coding|2/3|c.150-36C>T||||||,T|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000492213|protein_coding|3/5|c.64-36C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000483713|nonsense_mediated_decay|2/4|n.150-36C>T||||||,T|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000443002|nonsense_mediated_decay|2/7|n.91-36C>T||||||,T|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000606538|protein_coding|2/3|c.91-36C>T||||||,T|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000405557|protein_coding|2/4|c.91-36C>T||||||,T|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000470701|protein_coding|2/4|c.76-36C>T|||||| 22 38355343 . T C . . ANN=C|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000407936|protein_coding|2/5|c.91-10T>C||||||,C|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000484894|processed_transcript|2/4|n.280-10T>C||||||,C|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000442738|protein_coding|2/4|c.91-10T>C||||||,C|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000460648|protein_coding|2/2|c.149+2435T>C||||||,C|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000488684|protein_coding|2/3|c.150-10T>C||||||,C|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000492213|protein_coding|3/5|c.64-10T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000483713|nonsense_mediated_decay|2/4|n.150-10T>C||||||,C|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000443002|nonsense_mediated_decay|2/7|n.91-10T>C||||||,C|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000606538|protein_coding|2/3|c.91-10T>C||||||,C|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000405557|protein_coding|2/4|c.91-10T>C||||||,C|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000470701|protein_coding|2/4|c.76-10T>C|||||| 22 38355403 . C T . . ANN=T|missense_variant|MODERATE|POLR2F|ENSG00000100142|transcript|ENST00000488684|protein_coding|3/4|c.200C>T|p.Pro67Leu|289/564|200/231|67/76||,T|synonymous_variant|LOW|POLR2F|ENSG00000100142|transcript|ENST00000407936|protein_coding|3/6|c.141C>T|p.Ala47Ala|232/582|141/477|47/158||,T|synonymous_variant|LOW|POLR2F|ENSG00000100142|transcript|ENST00000442738|protein_coding|3/5|c.141C>T|p.Ala47Ala|266/2106|141/384|47/127||,T|synonymous_variant|LOW|POLR2F|ENSG00000100142|transcript|ENST00000492213|protein_coding|4/6|c.114C>T|p.Ala38Ala|328/550|114/336|38/111||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|POLR2F|ENSG00000100142|transcript|ENST00000606538|protein_coding|3/4|c.141C>T|p.Ala47Ala|218/760|141/297|47/98||,T|synonymous_variant|LOW|POLR2F|ENSG00000100142|transcript|ENST00000405557|protein_coding|3/5|c.141C>T|p.Ala47Ala|218/560|141/381|47/126||,T|synonymous_variant|LOW|POLR2F|ENSG00000100142|transcript|ENST00000470701|protein_coding|3/5|c.126C>T|p.Ala42Ala|255/584|126/369|42/122||,T|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000460648|protein_coding|2/2|c.149+2495C>T||||||,T|non_coding_exon_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000484894|processed_transcript|3/5|n.330C>T||||||,T|non_coding_exon_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000483713|nonsense_mediated_decay|3/5|n.200C>T||||||,T|non_coding_exon_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000443002|nonsense_mediated_decay|3/8|n.141C>T|||||| 22 38355531 . A G . . ANN=G|sequence_feature|LOW|POLR2F|ENSG00000100142|helix|ENST00000442738|protein_coding|3/5|c.221+48A>G||||||,G|sequence_feature|LOW|POLR2F|ENSG00000100142|helix|ENST00000442738|protein_coding|4/5|c.221+48A>G||||||,G|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000407936|protein_coding|3/5|c.221+48A>G||||||,G|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000484894|processed_transcript|3/4|n.410+48A>G||||||,G|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000442738|protein_coding|3/4|c.221+48A>G||||||,G|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000460648|protein_coding|2/2|c.149+2623A>G||||||,G|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000488684|protein_coding|3/3|c.*49+48A>G||||||,G|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000492213|protein_coding|4/5|c.194+48A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000483713|nonsense_mediated_decay|3/4|n.*49+48A>G||||||,G|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000443002|nonsense_mediated_decay|3/7|n.221+48A>G||||||,G|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000606538|protein_coding|3/3|c.221+48A>G||||||,G|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000405557|protein_coding|3/4|c.221+48A>G||||||,G|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000470701|protein_coding|3/4|c.206+48A>G|||||| 22 38363096 . A G . . ANN=G|sequence_feature|LOW|POLR2F|ENSG00000100142|helix|ENST00000442738|protein_coding|3/5|c.222-10A>G||||||,G|sequence_feature|LOW|POLR2F|ENSG00000100142|helix|ENST00000442738|protein_coding|4/5|c.222-10A>G||||||,G|downstream_gene_variant|MODIFIER|SOX10|ENSG00000100146|transcript|ENST00000446929|protein_coding||c.*539T>C|||||3597|WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000407936|protein_coding|3/5|c.222-10A>G||||||,G|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000484894|processed_transcript|3/4|n.411-10A>G||||||,G|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000442738|protein_coding|3/4|c.222-10A>G||||||,G|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000460648|protein_coding|2/2|c.150-10A>G||||||,G|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000488684|protein_coding|3/3|c.*50-10A>G||||||,G|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000492213|protein_coding|4/5|c.195-10A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000483713|nonsense_mediated_decay|3/4|n.*50-10A>G||||||,G|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000443002|nonsense_mediated_decay|3/7|n.222-10A>G||||||,G|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000606538|protein_coding|3/3|c.222-10A>G||||||,G|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000405557|protein_coding|3/4|c.222-10A>G||||||,G|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000470701|protein_coding|3/4|c.207-10A>G|||||| 22 38363660 . C T . . ANN=T|missense_variant|MODERATE|POLR2F|ENSG00000100142|transcript|ENST00000442738|protein_coding|5/5|c.322C>T|p.Arg108Cys|447/2106|322/384|108/127||,T|missense_variant|MODERATE|POLR2F|ENSG00000100142|transcript|ENST00000492213|protein_coding|6/6|c.295C>T|p.Arg99Cys|509/550|295/336|99/111||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|POLR2F|ENSG00000100142|transcript|ENST00000470701|protein_coding|5/5|c.307C>T|p.Arg103Cys|436/584|307/369|103/122||,T|sequence_feature|LOW|POLR2F|ENSG00000100142|beta_strand|ENST00000442738|protein_coding|5/5|c.322C>T||||||,T|3_prime_UTR_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000483713|nonsense_mediated_decay|5/5|n.*150C>T|||||8226|,T|downstream_gene_variant|MODIFIER|SOX10|ENSG00000100146|transcript|ENST00000360880|protein_coding||c.*1666G>A|||||4647|,T|downstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000460648|protein_coding||c.*316C>T|||||277|,T|downstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000488684|protein_coding||c.*320C>T|||||360|,T|downstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000606538|protein_coding||c.*374C>T|||||93|,T|downstream_gene_variant|MODIFIER|SOX10|ENSG00000100146|transcript|ENST00000446929|protein_coding||c.*539G>A|||||3033|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SOX10|ENSG00000100146|transcript|ENST00000396884|protein_coding||c.*1684G>A|||||4647|,T|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000407936|protein_coding|4/5|c.293+483C>T||||||,T|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000484894|processed_transcript|4/4|n.482+483C>T||||||,T|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000443002|nonsense_mediated_decay|4/7|n.293+483C>T||||||,T|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000405557|protein_coding|4/4|c.293+483C>T||||||,T|non_coding_exon_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000483713|nonsense_mediated_decay|5/5|n.*150C>T|||||| 22 38363671 . A G . . ANN=G|synonymous_variant|LOW|POLR2F|ENSG00000100142|transcript|ENST00000442738|protein_coding|5/5|c.333A>G|p.Pro111Pro|458/2106|333/384|111/127||,G|synonymous_variant|LOW|POLR2F|ENSG00000100142|transcript|ENST00000492213|protein_coding|6/6|c.306A>G|p.Pro102Pro|520/550|306/336|102/111||WARNING_TRANSCRIPT_NO_STOP_CODON,G|synonymous_variant|LOW|POLR2F|ENSG00000100142|transcript|ENST00000470701|protein_coding|5/5|c.318A>G|p.Pro106Pro|447/584|318/369|106/122||,G|sequence_feature|LOW|POLR2F|ENSG00000100142|turn|ENST00000442738|protein_coding|5/5|c.333A>G||||||,G|3_prime_UTR_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000483713|nonsense_mediated_decay|5/5|n.*161A>G|||||8237|,G|downstream_gene_variant|MODIFIER|SOX10|ENSG00000100146|transcript|ENST00000360880|protein_coding||c.*1666T>C|||||4636|,G|downstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000460648|protein_coding||c.*316A>G|||||288|,G|downstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000488684|protein_coding||c.*320A>G|||||371|,G|downstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000606538|protein_coding||c.*374A>G|||||104|,G|downstream_gene_variant|MODIFIER|SOX10|ENSG00000100146|transcript|ENST00000446929|protein_coding||c.*539T>C|||||3022|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|SOX10|ENSG00000100146|transcript|ENST00000396884|protein_coding||c.*1684T>C|||||4636|,G|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000407936|protein_coding|4/5|c.293+494A>G||||||,G|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000484894|processed_transcript|4/4|n.482+494A>G||||||,G|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000443002|nonsense_mediated_decay|4/7|n.293+494A>G||||||,G|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000405557|protein_coding|4/4|c.293+494A>G||||||,G|non_coding_exon_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000483713|nonsense_mediated_decay|5/5|n.*161A>G|||||| 22 38369610 . C T . . ANN=T|synonymous_variant|LOW|SOX10|ENSG00000100146|transcript|ENST00000360880|protein_coding|5/5|c.1293G>A|p.Ser431Ser|1558/2861|1293/1401|431/466||,T|synonymous_variant|LOW|SOX10|ENSG00000100146|transcript|ENST00000396884|protein_coding|4/4|c.1293G>A|p.Ser431Ser|1576/2879|1293/1401|431/466||,T|downstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000484894|processed_transcript||n.*551C>T|||||1305|,T|downstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000442738|protein_coding||c.*509C>T|||||4291|,T|downstream_gene_variant|MODIFIER|SOX10|ENSG00000100146|transcript|ENST00000427770|protein_coding||c.*873G>A|||||4320|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SOX10|ENSG00000100146|transcript|ENST00000470555|processed_transcript||n.*124G>A|||||4479|,T|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000407936|protein_coding|4/5|c.293+6433C>T||||||,T|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000443002|nonsense_mediated_decay|5/7|n.*38+1293C>T||||||,T|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000405557|protein_coding|4/4|c.293+6433C>T||||||,T|intron_variant|MODIFIER|SOX10|ENSG00000100146|transcript|ENST00000446929|protein_coding|3/3|c.480+441G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 38369658 . C T . . ANN=T|synonymous_variant|LOW|SOX10|ENSG00000100146|transcript|ENST00000360880|protein_coding|5/5|c.1245G>A|p.Ser415Ser|1510/2861|1245/1401|415/466||,T|synonymous_variant|LOW|SOX10|ENSG00000100146|transcript|ENST00000396884|protein_coding|4/4|c.1245G>A|p.Ser415Ser|1528/2879|1245/1401|415/466||,T|downstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000484894|processed_transcript||n.*551C>T|||||1353|,T|downstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000442738|protein_coding||c.*509C>T|||||4339|,T|downstream_gene_variant|MODIFIER|SOX10|ENSG00000100146|transcript|ENST00000427770|protein_coding||c.*873G>A|||||4272|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SOX10|ENSG00000100146|transcript|ENST00000470555|processed_transcript||n.*124G>A|||||4431|,T|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000407936|protein_coding|4/5|c.293+6481C>T||||||,T|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000443002|nonsense_mediated_decay|5/7|n.*38+1341C>T||||||,T|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000405557|protein_coding|4/4|c.293+6481C>T||||||,T|intron_variant|MODIFIER|SOX10|ENSG00000100146|transcript|ENST00000446929|protein_coding|3/3|c.480+393G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 38369976 . A G . . ANN=G|synonymous_variant|LOW|SOX10|ENSG00000100146|transcript|ENST00000360880|protein_coding|5/5|c.927T>C|p.His309His|1192/2861|927/1401|309/466||,G|synonymous_variant|LOW|SOX10|ENSG00000100146|transcript|ENST00000396884|protein_coding|4/4|c.927T>C|p.His309His|1210/2879|927/1401|309/466||,G|downstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000484894|processed_transcript||n.*551A>G|||||1671|,G|downstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000442738|protein_coding||c.*509A>G|||||4657|,G|downstream_gene_variant|MODIFIER|SOX10|ENSG00000100146|transcript|ENST00000427770|protein_coding||c.*873T>C|||||3954|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|SOX10|ENSG00000100146|transcript|ENST00000470555|processed_transcript||n.*124T>C|||||4113|,G|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000407936|protein_coding|4/5|c.293+6799A>G||||||,G|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000443002|nonsense_mediated_decay|5/7|n.*38+1659A>G||||||,G|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000405557|protein_coding|4/4|c.293+6799A>G||||||,G|intron_variant|MODIFIER|SOX10|ENSG00000100146|transcript|ENST00000446929|protein_coding|3/3|c.480+75T>C||||||WARNING_TRANSCRIPT_NO_START_CODON 22 38370078 . G A . . ANN=A|synonymous_variant|LOW|SOX10|ENSG00000100146|transcript|ENST00000360880|protein_coding|5/5|c.825C>T|p.Asn275Asn|1090/2861|825/1401|275/466||,A|synonymous_variant|LOW|SOX10|ENSG00000100146|transcript|ENST00000446929|protein_coding|3/4|c.453C>T|p.Asn151Asn|455/1095|453/537|151/178||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|SOX10|ENSG00000100146|transcript|ENST00000396884|protein_coding|4/4|c.825C>T|p.Asn275Asn|1108/2879|825/1401|275/466||,A|downstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000484894|processed_transcript||n.*551G>A|||||1773|,A|downstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000442738|protein_coding||c.*509G>A|||||4759|,A|downstream_gene_variant|MODIFIER|SOX10|ENSG00000100146|transcript|ENST00000427770|protein_coding||c.*873C>T|||||3852|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SOX10|ENSG00000100146|transcript|ENST00000470555|processed_transcript||n.*124C>T|||||4011|,A|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000407936|protein_coding|4/5|c.293+6901G>A||||||,A|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000443002|nonsense_mediated_decay|5/7|n.*38+1761G>A||||||,A|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000405557|protein_coding|4/4|c.293+6901G>A|||||| 22 38370081 . G A . . ANN=A|synonymous_variant|LOW|SOX10|ENSG00000100146|transcript|ENST00000360880|protein_coding|5/5|c.822C>T|p.Gly274Gly|1087/2861|822/1401|274/466||,A|synonymous_variant|LOW|SOX10|ENSG00000100146|transcript|ENST00000446929|protein_coding|3/4|c.450C>T|p.Gly150Gly|452/1095|450/537|150/178||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|SOX10|ENSG00000100146|transcript|ENST00000396884|protein_coding|4/4|c.822C>T|p.Gly274Gly|1105/2879|822/1401|274/466||,A|downstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000484894|processed_transcript||n.*551G>A|||||1776|,A|downstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000442738|protein_coding||c.*509G>A|||||4762|,A|downstream_gene_variant|MODIFIER|SOX10|ENSG00000100146|transcript|ENST00000427770|protein_coding||c.*873C>T|||||3849|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SOX10|ENSG00000100146|transcript|ENST00000470555|processed_transcript||n.*124C>T|||||4008|,A|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000407936|protein_coding|4/5|c.293+6904G>A||||||,A|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000443002|nonsense_mediated_decay|5/7|n.*38+1764G>A||||||,A|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000405557|protein_coding|4/4|c.293+6904G>A|||||| 22 38370156 . C T . . ANN=T|synonymous_variant|LOW|SOX10|ENSG00000100146|transcript|ENST00000360880|protein_coding|5/5|c.747G>A|p.Leu249Leu|1012/2861|747/1401|249/466||,T|synonymous_variant|LOW|SOX10|ENSG00000100146|transcript|ENST00000446929|protein_coding|3/4|c.375G>A|p.Leu125Leu|377/1095|375/537|125/178||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|SOX10|ENSG00000100146|transcript|ENST00000396884|protein_coding|4/4|c.747G>A|p.Leu249Leu|1030/2879|747/1401|249/466||,T|downstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000484894|processed_transcript||n.*551C>T|||||1851|,T|downstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000442738|protein_coding||c.*509C>T|||||4837|,T|downstream_gene_variant|MODIFIER|SOX10|ENSG00000100146|transcript|ENST00000427770|protein_coding||c.*873G>A|||||3774|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SOX10|ENSG00000100146|transcript|ENST00000470555|processed_transcript||n.*124G>A|||||3933|,T|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000407936|protein_coding|4/5|c.293+6979C>T||||||,T|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000443002|nonsense_mediated_decay|5/7|n.*38+1839C>T||||||,T|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000405557|protein_coding|4/4|c.293+6979C>T|||||| 22 38370246 . AGCAGGTTAGAG A . . ANN=|downstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000484894|processed_transcript||n.*551_*551delGCAGGTTAGAG|||||1942|,|downstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000442738|protein_coding||c.*509_*509delGCAGGTTAGAG|||||4928|,|downstream_gene_variant|MODIFIER|SOX10|ENSG00000100146|transcript|ENST00000427770|protein_coding||c.*873_*873delCTCTAACCTGC|||||3683|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|SOX10|ENSG00000100146|transcript|ENST00000470555|processed_transcript||n.*124_*124delCTCTAACCTGC|||||3842|,|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000407936|protein_coding|4/5|c.293+7076_293+7086delTAGAGGCAGGT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SOX10|ENSG00000100146|transcript|ENST00000360880|protein_coding|4/4|c.698-52_698-42delCTCTAACCTGC||||||,|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000443002|nonsense_mediated_decay|5/7|n.*38+1936_*38+1946delTAGAGGCAGGT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000405557|protein_coding|4/4|c.293+7076_293+7086delTAGAGGCAGGT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SOX10|ENSG00000100146|transcript|ENST00000446929|protein_coding|2/3|c.326-52_326-42delCTCTAACCTGC||||||WARNING_TRANSCRIPT_NO_START_CODON,|intron_variant|MODIFIER|SOX10|ENSG00000100146|transcript|ENST00000396884|protein_coding|3/3|c.698-52_698-42delCTCTAACCTGC|||||| 22 38373967 . C T . . ANN=T|missense_variant|MODERATE|SOX10|ENSG00000100146|transcript|ENST00000360880|protein_coding|4/5|c.604G>A|p.Ala202Thr|869/2861|604/1401|202/466||,T|missense_variant|MODERATE|SOX10|ENSG00000100146|transcript|ENST00000446929|protein_coding|2/4|c.232G>A|p.Ala78Thr|234/1095|232/537|78/178||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|SOX10|ENSG00000100146|transcript|ENST00000396884|protein_coding|3/4|c.604G>A|p.Ala202Thr|887/2879|604/1401|202/466||,T|missense_variant|MODERATE|SOX10|ENSG00000100146|transcript|ENST00000427770|protein_coding|3/3|c.604G>A|p.Ala202Thr|836/873|604/641|202/212||WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SOX10|ENSG00000100146|transcript|ENST00000470555|processed_transcript||n.*124G>A|||||122|,T|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000407936|protein_coding|4/5|c.294-8194C>T||||||,T|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000443002|nonsense_mediated_decay|5/7|n.*38+5650C>T||||||,T|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000405557|protein_coding|4/4|c.293+10790C>T|||||| 22 38373997 . C T . . ANN=T|missense_variant|MODERATE|SOX10|ENSG00000100146|transcript|ENST00000360880|protein_coding|4/5|c.574G>A|p.Gly192Ser|839/2861|574/1401|192/466||,T|missense_variant|MODERATE|SOX10|ENSG00000100146|transcript|ENST00000446929|protein_coding|2/4|c.202G>A|p.Gly68Ser|204/1095|202/537|68/178||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|SOX10|ENSG00000100146|transcript|ENST00000396884|protein_coding|3/4|c.574G>A|p.Gly192Ser|857/2879|574/1401|192/466||,T|missense_variant|MODERATE|SOX10|ENSG00000100146|transcript|ENST00000427770|protein_coding|3/3|c.574G>A|p.Gly192Ser|806/873|574/641|192/212||WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SOX10|ENSG00000100146|transcript|ENST00000470555|processed_transcript||n.*124G>A|||||92|,T|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000407936|protein_coding|4/5|c.294-8164C>T||||||,T|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000443002|nonsense_mediated_decay|5/7|n.*38+5680C>T||||||,T|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000405557|protein_coding|4/4|c.293+10820C>T|||||| 22 38374064 . C T . . ANN=T|synonymous_variant|LOW|SOX10|ENSG00000100146|transcript|ENST00000360880|protein_coding|4/5|c.507G>A|p.Pro169Pro|772/2861|507/1401|169/466||,T|synonymous_variant|LOW|SOX10|ENSG00000100146|transcript|ENST00000446929|protein_coding|2/4|c.135G>A|p.Pro45Pro|137/1095|135/537|45/178||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|SOX10|ENSG00000100146|transcript|ENST00000396884|protein_coding|3/4|c.507G>A|p.Pro169Pro|790/2879|507/1401|169/466||,T|synonymous_variant|LOW|SOX10|ENSG00000100146|transcript|ENST00000427770|protein_coding|3/3|c.507G>A|p.Pro169Pro|739/873|507/641|169/212||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|SOX10|ENSG00000100146|DNA-binding_region:HMG_box|ENST00000360880|protein_coding|3/5|c.507G>A||||||,T|sequence_feature|LOW|SOX10|ENSG00000100146|DNA-binding_region:HMG_box|ENST00000360880|protein_coding|4/5|c.507G>A||||||,T|downstream_gene_variant|MODIFIER|SOX10|ENSG00000100146|transcript|ENST00000470555|processed_transcript||n.*124G>A|||||25|,T|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000407936|protein_coding|4/5|c.294-8097C>T||||||,T|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000443002|nonsense_mediated_decay|5/7|n.*38+5747C>T||||||,T|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000405557|protein_coding|4/4|c.293+10887C>T|||||| 22 38379354 . G C . . ANN=C|sequence_feature|LOW|SOX10|ENSG00000100146|DNA-binding_region:HMG_box|ENST00000360880|protein_coding|3/5|c.428+10C>G||||||,C|sequence_feature|LOW|SOX10|ENSG00000100146|DNA-binding_region:HMG_box|ENST00000360880|protein_coding|4/5|c.428+10C>G||||||,C|sequence_feature|LOW|SOX10|ENSG00000100146|short_sequence_motif:Nuclear_export_signal|ENST00000360880|protein_coding|3/5|c.428+10C>G||||||,C|sequence_feature|LOW|SOX10|ENSG00000100146|short_sequence_motif:Nuclear_export_signal|ENST00000360880|protein_coding|4/5|c.428+10C>G||||||,C|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000333418|protein_coding||c.-2G>C|||||2846|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000427034|protein_coding||c.-3G>C|||||2852|WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000407936|protein_coding|4/5|c.294-2807G>C||||||,C|intron_variant|MODIFIER|SOX10|ENSG00000100146|transcript|ENST00000360880|protein_coding|3/4|c.428+10C>G||||||,C|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000443002|nonsense_mediated_decay|5/7|n.*39-1705G>C||||||,C|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000405557|protein_coding|4/4|c.293+16177G>C||||||,C|intron_variant|MODIFIER|SOX10|ENSG00000100146|transcript|ENST00000446929|protein_coding|1/3|c.56+10C>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|SOX10|ENSG00000100146|transcript|ENST00000396884|protein_coding|2/3|c.428+10C>G||||||,C|intron_variant|MODIFIER|SOX10|ENSG00000100146|transcript|ENST00000427770|protein_coding|2/2|c.428+10C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|SOX10|ENSG00000100146|transcript|ENST00000470555|processed_transcript|1/1|n.70+992C>G|||||| 22 38379444 . C T . . ANN=T|synonymous_variant|LOW|SOX10|ENSG00000100146|transcript|ENST00000360880|protein_coding|3/5|c.348G>A|p.Gln116Gln|613/2861|348/1401|116/466||,T|synonymous_variant|LOW|SOX10|ENSG00000100146|transcript|ENST00000396884|protein_coding|2/4|c.348G>A|p.Gln116Gln|631/2879|348/1401|116/466||,T|synonymous_variant|LOW|SOX10|ENSG00000100146|transcript|ENST00000427770|protein_coding|2/3|c.348G>A|p.Gln116Gln|580/873|348/641|116/212||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|SOX10|ENSG00000100146|DNA-binding_region:HMG_box|ENST00000360880|protein_coding|3/5|c.348G>A||||||,T|sequence_feature|LOW|SOX10|ENSG00000100146|DNA-binding_region:HMG_box|ENST00000360880|protein_coding|4/5|c.348G>A||||||,T|upstream_gene_variant|MODIFIER|SOX10|ENSG00000100146|transcript|ENST00000446929|protein_coding||c.-3G>A|||||23|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000333418|protein_coding||c.-2C>T|||||2756|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000427034|protein_coding||c.-3C>T|||||2762|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000407936|protein_coding|4/5|c.294-2717C>T||||||,T|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000443002|nonsense_mediated_decay|5/7|n.*39-1615C>T||||||,T|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000405557|protein_coding|4/4|c.293+16267C>T||||||,T|intron_variant|MODIFIER|SOX10|ENSG00000100146|transcript|ENST00000470555|processed_transcript|1/1|n.70+902G>A|||||| 22 38379543 . G A . . ANN=A|synonymous_variant|LOW|SOX10|ENSG00000100146|transcript|ENST00000360880|protein_coding|3/5|c.249C>T|p.Tyr83Tyr|514/2861|249/1401|83/466||,A|synonymous_variant|LOW|SOX10|ENSG00000100146|transcript|ENST00000396884|protein_coding|2/4|c.249C>T|p.Tyr83Tyr|532/2879|249/1401|83/466||,A|synonymous_variant|LOW|SOX10|ENSG00000100146|transcript|ENST00000427770|protein_coding|2/3|c.249C>T|p.Tyr83Tyr|481/873|249/641|83/212||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|SOX10|ENSG00000100146|transcript|ENST00000446929|protein_coding||c.-3C>T|||||122|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000333418|protein_coding||c.-2G>A|||||2657|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000427034|protein_coding||c.-3G>A|||||2663|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000407936|protein_coding|4/5|c.294-2618G>A||||||,A|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000443002|nonsense_mediated_decay|5/7|n.*39-1516G>A||||||,A|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000405557|protein_coding|4/4|c.293+16366G>A||||||,A|intron_variant|MODIFIER|SOX10|ENSG00000100146|transcript|ENST00000470555|processed_transcript|1/1|n.70+803C>T|||||| 22 38379585 . G A . . ANN=A|synonymous_variant|LOW|SOX10|ENSG00000100146|transcript|ENST00000360880|protein_coding|3/5|c.207C>T|p.Pro69Pro|472/2861|207/1401|69/466||,A|synonymous_variant|LOW|SOX10|ENSG00000100146|transcript|ENST00000396884|protein_coding|2/4|c.207C>T|p.Pro69Pro|490/2879|207/1401|69/466||,A|synonymous_variant|LOW|SOX10|ENSG00000100146|transcript|ENST00000427770|protein_coding|2/3|c.207C>T|p.Pro69Pro|439/873|207/641|69/212||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|SOX10|ENSG00000100146|transcript|ENST00000446929|protein_coding||c.-3C>T|||||164|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000333418|protein_coding||c.-2G>A|||||2615|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000427034|protein_coding||c.-3G>A|||||2621|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000407936|protein_coding|4/5|c.294-2576G>A||||||,A|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000443002|nonsense_mediated_decay|5/7|n.*39-1474G>A||||||,A|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000405557|protein_coding|4/4|c.293+16408G>A||||||,A|intron_variant|MODIFIER|SOX10|ENSG00000100146|transcript|ENST00000470555|processed_transcript|1/1|n.70+761C>T|||||| 22 38379670 . C A . . ANN=A|missense_variant|MODERATE|SOX10|ENSG00000100146|transcript|ENST00000360880|protein_coding|3/5|c.122G>T|p.Gly41Val|387/2861|122/1401|41/466||,A|missense_variant|MODERATE|SOX10|ENSG00000100146|transcript|ENST00000396884|protein_coding|2/4|c.122G>T|p.Gly41Val|405/2879|122/1401|41/466||,A|missense_variant|MODERATE|SOX10|ENSG00000100146|transcript|ENST00000427770|protein_coding|2/3|c.122G>T|p.Gly41Val|354/873|122/641|41/212||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|SOX10|ENSG00000100146|compositionally_biased_region:Poly-Gly|ENST00000360880|protein_coding|3/5|c.122G>T||||||,A|upstream_gene_variant|MODIFIER|SOX10|ENSG00000100146|transcript|ENST00000446929|protein_coding||c.-3G>T|||||249|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000333418|protein_coding||c.-2C>A|||||2530|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000427034|protein_coding||c.-3C>A|||||2536|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000407936|protein_coding|4/5|c.294-2491C>A||||||,A|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000443002|nonsense_mediated_decay|5/7|n.*39-1389C>A||||||,A|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000405557|protein_coding|4/4|c.293+16493C>A||||||,A|intron_variant|MODIFIER|SOX10|ENSG00000100146|transcript|ENST00000470555|processed_transcript|1/1|n.70+676G>T|||||| 22 38379774 . G A . . ANN=A|synonymous_variant|LOW|SOX10|ENSG00000100146|transcript|ENST00000360880|protein_coding|3/5|c.18C>T|p.Asp6Asp|283/2861|18/1401|6/466||,A|synonymous_variant|LOW|SOX10|ENSG00000100146|transcript|ENST00000396884|protein_coding|2/4|c.18C>T|p.Asp6Asp|301/2879|18/1401|6/466||,A|synonymous_variant|LOW|SOX10|ENSG00000100146|transcript|ENST00000427770|protein_coding|2/3|c.18C>T|p.Asp6Asp|250/873|18/641|6/212||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|SOX10|ENSG00000100146|transcript|ENST00000446929|protein_coding||c.-3C>T|||||353|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000333418|protein_coding||c.-2G>A|||||2426|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000427034|protein_coding||c.-3G>A|||||2432|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000407936|protein_coding|4/5|c.294-2387G>A||||||,A|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000443002|nonsense_mediated_decay|5/7|n.*39-1285G>A||||||,A|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000405557|protein_coding|4/4|c.293+16597G>A||||||,A|intron_variant|MODIFIER|SOX10|ENSG00000100146|transcript|ENST00000470555|processed_transcript|1/1|n.70+572C>T|||||| 22 38455203 . C A . . ANN=A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000476157|retained_intron||n.*590C>A|||||1038|,A|intron_variant|MODIFIER|RP5-1039K5.13|ENSG00000233739|transcript|ENST00000445483|antisense|1/1|n.77-1679G>T||||||,A|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000356976|protein_coding|2/12|c.42-38C>A||||||,A|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000445628|protein_coding|3/3|c.42-38C>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000404072|protein_coding|2/12|c.42-38C>A||||||,A|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000424694|protein_coding|2/8|c.42-38C>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000484021|retained_intron|2/11|n.281-38C>A||||||,A|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000437453|protein_coding|2/5|c.42-38C>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000426258|nonsense_mediated_decay|2/4|n.41+1346C>A||||||,A|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000468288|processed_transcript|2/6|n.118-38C>A||||||,A|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000469819|retained_intron|2/3|n.280-38C>A||||||,A|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000466374|retained_intron|2/4|n.204-38C>A||||||,A|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000435166|protein_coding|1/4|c.42-38C>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000432756|nonsense_mediated_decay|1/5|n.41+1346C>A|||||| 22 38460984 . C T . . ANN=T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:PDZ|ENST00000356976|protein_coding|4/13|c.154-25C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:PDZ|ENST00000356976|protein_coding|5/13|c.154-25C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:PDZ|ENST00000356976|protein_coding|3/13|c.154-25C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|beta_strand|ENST00000356976|protein_coding|4/13|c.154-25C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|beta_strand|ENST00000356976|protein_coding|3/13|c.154-25C>T||||||,T|upstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000472724|retained_intron||n.-1C>T|||||136|,T|upstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000494434|retained_intron||n.-1C>T|||||2500|,T|intron_variant|MODIFIER|RP5-1039K5.13|ENSG00000233739|transcript|ENST00000445483|antisense|1/1|n.77-7460G>A||||||,T|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000356976|protein_coding|3/12|c.154-25C>T||||||,T|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000404072|protein_coding|3/12|c.154-25C>T||||||,T|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000424694|protein_coding|3/8|c.154-25C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000484021|retained_intron|3/11|n.393-25C>T||||||,T|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000437453|protein_coding|3/5|c.154-25C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000426258|nonsense_mediated_decay|2/4|n.42-25C>T||||||,T|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000468288|processed_transcript|3/6|n.230-25C>T||||||,T|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000469819|retained_intron|3/3|n.392-25C>T||||||,T|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000466374|retained_intron|3/4|n.316-25C>T||||||,T|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000435166|protein_coding|2/4|c.154-25C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000432756|nonsense_mediated_decay|1/5|n.42-25C>T|||||| 22 38461038 . C T . . ANN=T|synonymous_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000356976|protein_coding|4/13|c.183C>T|p.Asp61Asp|421/2055|183/1248|61/415||,T|synonymous_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000404072|protein_coding|4/13|c.183C>T|p.Asp61Asp|530/2164|183/1248|61/415||,T|synonymous_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000424694|protein_coding|4/9|c.183C>T|p.Asp61Asp|449/954|183/688|61/228||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000437453|protein_coding|4/6|c.183C>T|p.Asp61Asp|335/544|183/392|61/129||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000435166|protein_coding|3/5|c.183C>T|p.Asp61Asp|340/559|183/402|61/133||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:PDZ|ENST00000356976|protein_coding|4/13|c.183C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:PDZ|ENST00000356976|protein_coding|5/13|c.183C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:PDZ|ENST00000356976|protein_coding|3/13|c.183C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|helix|ENST00000356976|protein_coding|4/13|c.183C>T||||||,T|upstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000472724|retained_intron||n.-1C>T|||||82|,T|upstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000494434|retained_intron||n.-1C>T|||||2446|,T|intron_variant|MODIFIER|RP5-1039K5.13|ENSG00000233739|transcript|ENST00000445483|antisense|1/1|n.77-7514G>A||||||,T|non_coding_exon_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000484021|retained_intron|4/12|n.422C>T||||||,T|non_coding_exon_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000426258|nonsense_mediated_decay|3/5|n.71C>T||||||,T|non_coding_exon_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000468288|processed_transcript|4/7|n.259C>T||||||,T|non_coding_exon_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000469819|retained_intron|4/4|n.421C>T||||||,T|non_coding_exon_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000466374|retained_intron|4/5|n.345C>T||||||,T|non_coding_exon_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000432756|nonsense_mediated_decay|2/6|n.71C>T|||||| 22 38461077 . T C . . ANN=C|synonymous_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000356976|protein_coding|4/13|c.222T>C|p.Asn74Asn|460/2055|222/1248|74/415||,C|synonymous_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000404072|protein_coding|4/13|c.222T>C|p.Asn74Asn|569/2164|222/1248|74/415||,C|synonymous_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000424694|protein_coding|4/9|c.222T>C|p.Asn74Asn|488/954|222/688|74/228||WARNING_TRANSCRIPT_INCOMPLETE,C|synonymous_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000437453|protein_coding|4/6|c.222T>C|p.Asn74Asn|374/544|222/392|74/129||WARNING_TRANSCRIPT_INCOMPLETE,C|synonymous_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000435166|protein_coding|3/5|c.222T>C|p.Asn74Asn|379/559|222/402|74/133||WARNING_TRANSCRIPT_NO_STOP_CODON,C|sequence_feature|LOW|PICK1|ENSG00000100151|domain:PDZ|ENST00000356976|protein_coding|4/13|c.222T>C||||||,C|sequence_feature|LOW|PICK1|ENSG00000100151|domain:PDZ|ENST00000356976|protein_coding|5/13|c.222T>C||||||,C|sequence_feature|LOW|PICK1|ENSG00000100151|domain:PDZ|ENST00000356976|protein_coding|3/13|c.222T>C||||||,C|upstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000472724|retained_intron||n.-1T>C|||||43|,C|upstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000494434|retained_intron||n.-1T>C|||||2407|,C|intron_variant|MODIFIER|RP5-1039K5.13|ENSG00000233739|transcript|ENST00000445483|antisense|1/1|n.77-7553A>G||||||,C|non_coding_exon_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000484021|retained_intron|4/12|n.461T>C||||||,C|non_coding_exon_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000426258|nonsense_mediated_decay|3/5|n.110T>C||||||,C|non_coding_exon_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000468288|processed_transcript|4/7|n.298T>C||||||,C|non_coding_exon_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000469819|retained_intron|4/4|n.460T>C||||||,C|non_coding_exon_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000466374|retained_intron|4/5|n.384T>C||||||,C|non_coding_exon_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000432756|nonsense_mediated_decay|2/6|n.110T>C|||||| 22 38461153 . G A . . ANN=A|sequence_feature|LOW|PICK1|ENSG00000100151|domain:PDZ|ENST00000356976|protein_coding|4/13|c.282+16G>A||||||,A|sequence_feature|LOW|PICK1|ENSG00000100151|domain:PDZ|ENST00000356976|protein_coding|5/13|c.282+16G>A||||||,A|sequence_feature|LOW|PICK1|ENSG00000100151|domain:PDZ|ENST00000356976|protein_coding|3/13|c.282+16G>A||||||,A|upstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000494434|retained_intron||n.-1G>A|||||2331|,A|intron_variant|MODIFIER|RP5-1039K5.13|ENSG00000233739|transcript|ENST00000445483|antisense|1/1|n.77-7629C>T||||||,A|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000356976|protein_coding|4/12|c.282+16G>A||||||,A|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000404072|protein_coding|4/12|c.282+16G>A||||||,A|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000424694|protein_coding|4/8|c.282+16G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000484021|retained_intron|4/11|n.521+16G>A||||||,A|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000437453|protein_coding|4/5|c.282+16G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000426258|nonsense_mediated_decay|3/4|n.*14+16G>A||||||,A|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000468288|processed_transcript|4/6|n.358+16G>A||||||,A|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000466374|retained_intron|4/4|n.444+16G>A||||||,A|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000435166|protein_coding|3/4|c.282+16G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000432756|nonsense_mediated_decay|2/5|n.*14+16G>A||||||,A|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000472724|retained_intron|1/4|n.18+16G>A||||||,A|non_coding_exon_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000469819|retained_intron|4/4|n.536G>A|||||| 22 38465026 . TG T . . ANN=|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000437453|protein_coding||c.*544delG|||||906|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000469819|retained_intron||n.*616delG|||||3794|,|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000466374|retained_intron||n.*826delG|||||935|,|intron_variant|MODIFIER|RP5-1039K5.13|ENSG00000233739|transcript|ENST00000445483|antisense|1/1|n.76+4845delC||||||,|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000356976|protein_coding|5/12|c.350-13delG||||||,|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000404072|protein_coding|5/12|c.350-13delG||||||,|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000424694|protein_coding|5/8|c.350-13delG||||||WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000484021|retained_intron|5/11|n.589-13delG||||||,|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000426258|nonsense_mediated_decay|3/4|n.*15-13delG||||||,|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000468288|processed_transcript|5/6|n.426-13delG||||||,|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000435166|protein_coding|4/4|c.350-13delG||||||WARNING_TRANSCRIPT_NO_STOP_CODON,|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000432756|nonsense_mediated_decay|3/5|n.*82-13delG||||||,|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000472724|retained_intron|2/4|n.86-13delG||||||,|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000494434|retained_intron|1/4|n.295-13delG|||||| 22 38465029 . C T . . ANN=T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000437453|protein_coding||c.*544C>T|||||908|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000469819|retained_intron||n.*616C>T|||||3796|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000466374|retained_intron||n.*826C>T|||||937|,T|intron_variant|MODIFIER|RP5-1039K5.13|ENSG00000233739|transcript|ENST00000445483|antisense|1/1|n.76+4843G>A||||||,T|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000356976|protein_coding|5/12|c.350-11C>T||||||,T|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000404072|protein_coding|5/12|c.350-11C>T||||||,T|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000424694|protein_coding|5/8|c.350-11C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000484021|retained_intron|5/11|n.589-11C>T||||||,T|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000426258|nonsense_mediated_decay|3/4|n.*15-11C>T||||||,T|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000468288|processed_transcript|5/6|n.426-11C>T||||||,T|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000435166|protein_coding|4/4|c.350-11C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000432756|nonsense_mediated_decay|3/5|n.*82-11C>T||||||,T|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000472724|retained_intron|2/4|n.86-11C>T||||||,T|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000494434|retained_intron|1/4|n.295-11C>T|||||| 22 38465033 . C G . . ANN=G|splice_region_variant&intron_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000356976|protein_coding|5/12|c.350-7C>G||||||,G|splice_region_variant&intron_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000404072|protein_coding|5/12|c.350-7C>G||||||,G|splice_region_variant&intron_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000424694|protein_coding|5/8|c.350-7C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|splice_region_variant&intron_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000484021|retained_intron|5/11|n.589-7C>G||||||,G|splice_region_variant&intron_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000426258|nonsense_mediated_decay|3/4|n.*15-7C>G||||||,G|splice_region_variant&intron_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000468288|processed_transcript|5/6|n.426-7C>G||||||,G|splice_region_variant&intron_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000435166|protein_coding|4/4|c.350-7C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|splice_region_variant&intron_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000432756|nonsense_mediated_decay|3/5|n.*82-7C>G||||||,G|splice_region_variant&intron_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000472724|retained_intron|2/4|n.86-7C>G||||||,G|splice_region_variant&intron_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000494434|retained_intron|1/4|n.295-7C>G||||||,G|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000437453|protein_coding||c.*544C>G|||||912|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000469819|retained_intron||n.*616C>G|||||3800|,G|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000466374|retained_intron||n.*826C>G|||||941|,G|intron_variant|MODIFIER|RP5-1039K5.13|ENSG00000233739|transcript|ENST00000445483|antisense|1/1|n.76+4839G>C|||||| 22 38465034 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000356976|protein_coding|5/12|c.350-6G>A||||||,A|splice_region_variant&intron_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000404072|protein_coding|5/12|c.350-6G>A||||||,A|splice_region_variant&intron_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000424694|protein_coding|5/8|c.350-6G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|splice_region_variant&intron_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000484021|retained_intron|5/11|n.589-6G>A||||||,A|splice_region_variant&intron_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000426258|nonsense_mediated_decay|3/4|n.*15-6G>A||||||,A|splice_region_variant&intron_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000468288|processed_transcript|5/6|n.426-6G>A||||||,A|splice_region_variant&intron_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000435166|protein_coding|4/4|c.350-6G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|splice_region_variant&intron_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000432756|nonsense_mediated_decay|3/5|n.*82-6G>A||||||,A|splice_region_variant&intron_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000472724|retained_intron|2/4|n.86-6G>A||||||,A|splice_region_variant&intron_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000494434|retained_intron|1/4|n.295-6G>A||||||,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000437453|protein_coding||c.*544G>A|||||913|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000469819|retained_intron||n.*616G>A|||||3801|,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000466374|retained_intron||n.*826G>A|||||942|,A|intron_variant|MODIFIER|RP5-1039K5.13|ENSG00000233739|transcript|ENST00000445483|antisense|1/1|n.76+4838C>T|||||| 22 38465089 . C T . . ANN=T|synonymous_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000356976|protein_coding|6/13|c.399C>T|p.Thr133Thr|637/2055|399/1248|133/415||,T|synonymous_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000404072|protein_coding|6/13|c.399C>T|p.Thr133Thr|746/2164|399/1248|133/415||,T|synonymous_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000424694|protein_coding|6/9|c.399C>T|p.Thr133Thr|665/954|399/688|133/228||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000435166|protein_coding|5/5|c.399C>T|p.Thr133Thr|556/559|399/402|133/133||WARNING_TRANSCRIPT_NO_STOP_CODON,T|3_prime_UTR_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000426258|nonsense_mediated_decay|4/5|n.*64C>T|||||3966|,T|3_prime_UTR_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000432756|nonsense_mediated_decay|4/6|n.*131C>T|||||3966|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000437453|protein_coding||c.*544C>T|||||968|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000469819|retained_intron||n.*616C>T|||||3856|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000466374|retained_intron||n.*826C>T|||||997|,T|intron_variant|MODIFIER|RP5-1039K5.13|ENSG00000233739|transcript|ENST00000445483|antisense|1/1|n.76+4783G>A||||||,T|non_coding_exon_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000484021|retained_intron|6/12|n.638C>T||||||,T|non_coding_exon_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000426258|nonsense_mediated_decay|4/5|n.*64C>T||||||,T|non_coding_exon_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000468288|processed_transcript|6/7|n.475C>T||||||,T|non_coding_exon_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000432756|nonsense_mediated_decay|4/6|n.*131C>T||||||,T|non_coding_exon_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000472724|retained_intron|3/5|n.135C>T||||||,T|non_coding_exon_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000494434|retained_intron|2/5|n.344C>T|||||| 22 38465116 . C T . . ANN=T|synonymous_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000356976|protein_coding|6/13|c.426C>T|p.Ala142Ala|664/2055|426/1248|142/415||,T|synonymous_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000404072|protein_coding|6/13|c.426C>T|p.Ala142Ala|773/2164|426/1248|142/415||,T|synonymous_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000424694|protein_coding|6/9|c.426C>T|p.Ala142Ala|692/954|426/688|142/228||WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000426258|nonsense_mediated_decay|4/5|n.*91C>T|||||3993|,T|3_prime_UTR_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000432756|nonsense_mediated_decay|4/6|n.*158C>T|||||3993|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000437453|protein_coding||c.*544C>T|||||995|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000469819|retained_intron||n.*616C>T|||||3883|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000466374|retained_intron||n.*826C>T|||||1024|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000435166|protein_coding||c.*559C>T|||||24|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|RP5-1039K5.13|ENSG00000233739|transcript|ENST00000445483|antisense|1/1|n.76+4756G>A||||||,T|non_coding_exon_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000484021|retained_intron|6/12|n.665C>T||||||,T|non_coding_exon_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000426258|nonsense_mediated_decay|4/5|n.*91C>T||||||,T|non_coding_exon_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000468288|processed_transcript|6/7|n.502C>T||||||,T|non_coding_exon_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000432756|nonsense_mediated_decay|4/6|n.*158C>T||||||,T|non_coding_exon_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000472724|retained_intron|3/5|n.162C>T||||||,T|non_coding_exon_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000494434|retained_intron|2/5|n.371C>T|||||| 22 38466805 . C T . . ANN=T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|6/13|c.440-40C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|13/13|c.440-40C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|11/13|c.440-40C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|12/13|c.440-40C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|7/13|c.440-40C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|10/13|c.440-40C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|8/13|c.440-40C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|9/13|c.440-40C>T||||||,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000437453|protein_coding||c.*544C>T|||||2684|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000466374|retained_intron||n.*826C>T|||||2713|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000435166|protein_coding||c.*559C>T|||||1713|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|RP5-1039K5.13|ENSG00000233739|transcript|ENST00000445483|antisense|1/1|n.76+3067G>A||||||,T|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000356976|protein_coding|6/12|c.440-40C>T||||||,T|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000404072|protein_coding|6/12|c.440-40C>T||||||,T|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000424694|protein_coding|6/8|c.440-40C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000484021|retained_intron|6/11|n.679-40C>T||||||,T|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000426258|nonsense_mediated_decay|4/4|n.*105-40C>T||||||,T|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000468288|processed_transcript|6/6|n.516-40C>T||||||,T|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000432756|nonsense_mediated_decay|4/5|n.*172-40C>T||||||,T|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000472724|retained_intron|3/4|n.176-40C>T||||||,T|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000494434|retained_intron|2/4|n.385-40C>T|||||| 22 38466882 . C T . . ANN=T|synonymous_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000356976|protein_coding|7/13|c.477C>T|p.Thr159Thr|715/2055|477/1248|159/415||,T|synonymous_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000404072|protein_coding|7/13|c.477C>T|p.Thr159Thr|824/2164|477/1248|159/415||,T|synonymous_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000424694|protein_coding|7/9|c.477C>T|p.Thr159Thr|743/954|477/688|159/228||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|6/13|c.477C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|13/13|c.477C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|11/13|c.477C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|12/13|c.477C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|7/13|c.477C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|10/13|c.477C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|8/13|c.477C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|9/13|c.477C>T||||||,T|3_prime_UTR_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000426258|nonsense_mediated_decay|5/5|n.*142C>T|||||5759|,T|3_prime_UTR_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000432756|nonsense_mediated_decay|5/6|n.*209C>T|||||5759|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000437453|protein_coding||c.*544C>T|||||2761|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000466374|retained_intron||n.*826C>T|||||2790|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000435166|protein_coding||c.*559C>T|||||1790|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|RP5-1039K5.13|ENSG00000233739|transcript|ENST00000445483|antisense|1/1|n.76+2990G>A||||||,T|non_coding_exon_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000484021|retained_intron|7/12|n.716C>T||||||,T|non_coding_exon_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000426258|nonsense_mediated_decay|5/5|n.*142C>T||||||,T|non_coding_exon_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000468288|processed_transcript|7/7|n.553C>T||||||,T|non_coding_exon_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000432756|nonsense_mediated_decay|5/6|n.*209C>T||||||,T|non_coding_exon_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000472724|retained_intron|4/5|n.213C>T||||||,T|non_coding_exon_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000494434|retained_intron|3/5|n.422C>T|||||| 22 38466917 . C T . . ANN=T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|6/13|c.493+19C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|13/13|c.493+19C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|11/13|c.493+19C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|12/13|c.493+19C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|7/13|c.493+19C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|10/13|c.493+19C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|8/13|c.493+19C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|9/13|c.493+19C>T||||||,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000437453|protein_coding||c.*544C>T|||||2796|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000426258|nonsense_mediated_decay||n.*397C>T|||||19|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000468288|processed_transcript||n.*569C>T|||||19|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000466374|retained_intron||n.*826C>T|||||2825|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000435166|protein_coding||c.*559C>T|||||1825|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|RP5-1039K5.13|ENSG00000233739|transcript|ENST00000445483|antisense|1/1|n.76+2955G>A||||||,T|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000356976|protein_coding|7/12|c.493+19C>T||||||,T|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000404072|protein_coding|7/12|c.493+19C>T||||||,T|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000424694|protein_coding|7/8|c.493+19C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000484021|retained_intron|7/11|n.732+19C>T||||||,T|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000432756|nonsense_mediated_decay|5/5|n.*225+19C>T||||||,T|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000472724|retained_intron|4/4|n.229+19C>T||||||,T|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000494434|retained_intron|3/4|n.438+19C>T|||||| 22 38467655 . G A . . ANN=A|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|6/13|c.494-34G>A||||||,A|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|13/13|c.494-34G>A||||||,A|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|11/13|c.494-34G>A||||||,A|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|12/13|c.494-34G>A||||||,A|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|7/13|c.494-34G>A||||||,A|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|10/13|c.494-34G>A||||||,A|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|8/13|c.494-34G>A||||||,A|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|9/13|c.494-34G>A||||||,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000437453|protein_coding||c.*544G>A|||||3534|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000426258|nonsense_mediated_decay||n.*397G>A|||||757|,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000468288|processed_transcript||n.*569G>A|||||757|,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000466374|retained_intron||n.*826G>A|||||3563|,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000435166|protein_coding||c.*559G>A|||||2563|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|RP5-1039K5.13|ENSG00000233739|transcript|ENST00000445483|antisense|1/1|n.76+2217C>T||||||,A|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000356976|protein_coding|7/12|c.494-34G>A||||||,A|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000404072|protein_coding|7/12|c.494-34G>A||||||,A|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000424694|protein_coding|7/8|c.494-34G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000484021|retained_intron|7/11|n.733-34G>A||||||,A|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000432756|nonsense_mediated_decay|5/5|n.*226-34G>A||||||,A|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000472724|retained_intron|4/4|n.230-34G>A||||||,A|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000494434|retained_intron|3/4|n.439-34G>A|||||| 22 38467666 . G T . . ANN=T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|6/13|c.494-23G>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|13/13|c.494-23G>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|11/13|c.494-23G>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|12/13|c.494-23G>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|7/13|c.494-23G>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|10/13|c.494-23G>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|8/13|c.494-23G>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|9/13|c.494-23G>T||||||,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000437453|protein_coding||c.*544G>T|||||3545|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000426258|nonsense_mediated_decay||n.*397G>T|||||768|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000468288|processed_transcript||n.*569G>T|||||768|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000466374|retained_intron||n.*826G>T|||||3574|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000435166|protein_coding||c.*559G>T|||||2574|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|RP5-1039K5.13|ENSG00000233739|transcript|ENST00000445483|antisense|1/1|n.76+2206C>A||||||,T|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000356976|protein_coding|7/12|c.494-23G>T||||||,T|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000404072|protein_coding|7/12|c.494-23G>T||||||,T|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000424694|protein_coding|7/8|c.494-23G>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000484021|retained_intron|7/11|n.733-23G>T||||||,T|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000432756|nonsense_mediated_decay|5/5|n.*226-23G>T||||||,T|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000472724|retained_intron|4/4|n.230-23G>T||||||,T|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000494434|retained_intron|3/4|n.439-23G>T|||||| 22 38467759 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000356976|protein_coding|8/12|c.556+8C>T||||||,T|splice_region_variant&intron_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000404072|protein_coding|8/12|c.556+8C>T||||||,T|splice_region_variant&intron_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000424694|protein_coding|8/8|c.556+8C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|splice_region_variant&intron_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000484021|retained_intron|8/11|n.795+8C>T||||||,T|splice_region_variant&intron_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000494434|retained_intron|4/4|n.501+8C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|6/13|c.556+8C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|13/13|c.556+8C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|11/13|c.556+8C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|12/13|c.556+8C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|7/13|c.556+8C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|10/13|c.556+8C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|8/13|c.556+8C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|9/13|c.556+8C>T||||||,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000437453|protein_coding||c.*544C>T|||||3638|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000426258|nonsense_mediated_decay||n.*397C>T|||||861|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000468288|processed_transcript||n.*569C>T|||||861|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000466374|retained_intron||n.*826C>T|||||3667|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000435166|protein_coding||c.*559C>T|||||2667|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000432756|nonsense_mediated_decay||n.*310C>T|||||24|,T|intron_variant|MODIFIER|RP5-1039K5.13|ENSG00000233739|transcript|ENST00000445483|antisense|1/1|n.76+2113G>A||||||,T|non_coding_exon_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000472724|retained_intron|5/5|n.300C>T|||||| 22 38467784 . G C . . ANN=C|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|6/13|c.556+33G>C||||||,C|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|13/13|c.556+33G>C||||||,C|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|11/13|c.556+33G>C||||||,C|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|12/13|c.556+33G>C||||||,C|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|7/13|c.556+33G>C||||||,C|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|10/13|c.556+33G>C||||||,C|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|8/13|c.556+33G>C||||||,C|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|9/13|c.556+33G>C||||||,C|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000437453|protein_coding||c.*544G>C|||||3663|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000426258|nonsense_mediated_decay||n.*397G>C|||||886|,C|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000468288|processed_transcript||n.*569G>C|||||886|,C|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000466374|retained_intron||n.*826G>C|||||3692|,C|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000435166|protein_coding||c.*559G>C|||||2692|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000432756|nonsense_mediated_decay||n.*310G>C|||||49|,C|intron_variant|MODIFIER|RP5-1039K5.13|ENSG00000233739|transcript|ENST00000445483|antisense|1/1|n.76+2088C>G||||||,C|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000356976|protein_coding|8/12|c.556+33G>C||||||,C|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000404072|protein_coding|8/12|c.556+33G>C||||||,C|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000424694|protein_coding|8/8|c.556+33G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000484021|retained_intron|8/11|n.795+33G>C||||||,C|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000494434|retained_intron|4/4|n.501+33G>C||||||,C|non_coding_exon_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000472724|retained_intron|5/5|n.325G>C|||||| 22 38468504 . G A . . ANN=A|missense_variant|MODERATE|PICK1|ENSG00000100151|transcript|ENST00000356976|protein_coding|9/13|c.577G>A|p.Val193Met|815/2055|577/1248|193/415||,A|missense_variant|MODERATE|PICK1|ENSG00000100151|transcript|ENST00000404072|protein_coding|9/13|c.577G>A|p.Val193Met|924/2164|577/1248|193/415||,A|missense_variant|MODERATE|PICK1|ENSG00000100151|transcript|ENST00000424694|protein_coding|9/9|c.577G>A|p.Val193Met|843/954|577/688|193/228||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|6/13|c.577G>A||||||,A|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|13/13|c.577G>A||||||,A|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|11/13|c.577G>A||||||,A|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|12/13|c.577G>A||||||,A|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|7/13|c.577G>A||||||,A|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|10/13|c.577G>A||||||,A|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|8/13|c.577G>A||||||,A|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|9/13|c.577G>A||||||,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000437453|protein_coding||c.*544G>A|||||4383|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000426258|nonsense_mediated_decay||n.*397G>A|||||1606|,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000468288|processed_transcript||n.*569G>A|||||1606|,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000466374|retained_intron||n.*826G>A|||||4412|,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000435166|protein_coding||c.*559G>A|||||3412|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000432756|nonsense_mediated_decay||n.*310G>A|||||769|,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000472724|retained_intron||n.*555G>A|||||490|,A|intron_variant|MODIFIER|RP5-1039K5.13|ENSG00000233739|transcript|ENST00000445483|antisense|1/1|n.76+1368C>T||||||,A|non_coding_exon_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000484021|retained_intron|9/12|n.816G>A||||||,A|non_coding_exon_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000494434|retained_intron|5/5|n.522G>A|||||| 22 38468578 . C T . . ANN=T|synonymous_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000356976|protein_coding|9/13|c.651C>T|p.Ile217Ile|889/2055|651/1248|217/415||,T|synonymous_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000404072|protein_coding|9/13|c.651C>T|p.Ile217Ile|998/2164|651/1248|217/415||,T|synonymous_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000424694|protein_coding|9/9|c.651C>T|p.Ile217Ile|917/954|651/688|217/228||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|6/13|c.651C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|13/13|c.651C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|11/13|c.651C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|12/13|c.651C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|7/13|c.651C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|10/13|c.651C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|8/13|c.651C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|9/13|c.651C>T||||||,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000437453|protein_coding||c.*544C>T|||||4457|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000426258|nonsense_mediated_decay||n.*397C>T|||||1680|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000468288|processed_transcript||n.*569C>T|||||1680|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000466374|retained_intron||n.*826C>T|||||4486|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000435166|protein_coding||c.*559C>T|||||3486|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000432756|nonsense_mediated_decay||n.*310C>T|||||843|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000472724|retained_intron||n.*555C>T|||||564|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000494434|retained_intron||n.*559C>T|||||37|,T|intron_variant|MODIFIER|RP5-1039K5.13|ENSG00000233739|transcript|ENST00000445483|antisense|1/1|n.76+1294G>A||||||,T|non_coding_exon_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000484021|retained_intron|9/12|n.890C>T|||||| 22 38468617 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000356976|protein_coding|9/13|c.690G>A|p.Pro230Pro|928/2055|690/1248|230/415||,A|splice_region_variant&synonymous_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000404072|protein_coding|9/13|c.690G>A|p.Pro230Pro|1037/2164|690/1248|230/415||,A|splice_region_variant&non_coding_exon_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000484021|retained_intron|9/12|n.929G>A||||||,A|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|6/13|c.690G>A||||||,A|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|13/13|c.690G>A||||||,A|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|11/13|c.690G>A||||||,A|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|12/13|c.690G>A||||||,A|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|7/13|c.690G>A||||||,A|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|10/13|c.690G>A||||||,A|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|8/13|c.690G>A||||||,A|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|9/13|c.690G>A||||||,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000424694|protein_coding||c.*954G>A|||||2|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000437453|protein_coding||c.*544G>A|||||4496|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000426258|nonsense_mediated_decay||n.*397G>A|||||1719|,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000468288|processed_transcript||n.*569G>A|||||1719|,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000466374|retained_intron||n.*826G>A|||||4525|,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000435166|protein_coding||c.*559G>A|||||3525|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000432756|nonsense_mediated_decay||n.*310G>A|||||882|,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000472724|retained_intron||n.*555G>A|||||603|,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000494434|retained_intron||n.*559G>A|||||76|,A|intron_variant|MODIFIER|RP5-1039K5.13|ENSG00000233739|transcript|ENST00000445483|antisense|1/1|n.76+1255C>T|||||| 22 38468632 . G A . . ANN=A|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|6/13|c.690+15G>A||||||,A|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|13/13|c.690+15G>A||||||,A|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|11/13|c.690+15G>A||||||,A|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|12/13|c.690+15G>A||||||,A|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|7/13|c.690+15G>A||||||,A|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|10/13|c.690+15G>A||||||,A|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|8/13|c.690+15G>A||||||,A|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|9/13|c.690+15G>A||||||,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000424694|protein_coding||c.*954G>A|||||17|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000437453|protein_coding||c.*544G>A|||||4511|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000426258|nonsense_mediated_decay||n.*397G>A|||||1734|,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000468288|processed_transcript||n.*569G>A|||||1734|,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000466374|retained_intron||n.*826G>A|||||4540|,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000435166|protein_coding||c.*559G>A|||||3540|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000432756|nonsense_mediated_decay||n.*310G>A|||||897|,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000472724|retained_intron||n.*555G>A|||||618|,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000494434|retained_intron||n.*559G>A|||||91|,A|intron_variant|MODIFIER|RP5-1039K5.13|ENSG00000233739|transcript|ENST00000445483|antisense|1/1|n.76+1240C>T||||||,A|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000356976|protein_coding|9/12|c.690+15G>A||||||,A|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000404072|protein_coding|9/12|c.690+15G>A||||||,A|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000484021|retained_intron|9/11|n.929+15G>A|||||| 22 38468643 . T G . . ANN=G|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|6/13|c.690+26T>G||||||,G|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|13/13|c.690+26T>G||||||,G|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|11/13|c.690+26T>G||||||,G|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|12/13|c.690+26T>G||||||,G|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|7/13|c.690+26T>G||||||,G|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|10/13|c.690+26T>G||||||,G|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|8/13|c.690+26T>G||||||,G|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|9/13|c.690+26T>G||||||,G|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000424694|protein_coding||c.*954T>G|||||28|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000437453|protein_coding||c.*544T>G|||||4522|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000426258|nonsense_mediated_decay||n.*397T>G|||||1745|,G|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000468288|processed_transcript||n.*569T>G|||||1745|,G|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000466374|retained_intron||n.*826T>G|||||4551|,G|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000435166|protein_coding||c.*559T>G|||||3551|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000432756|nonsense_mediated_decay||n.*310T>G|||||908|,G|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000472724|retained_intron||n.*555T>G|||||629|,G|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000494434|retained_intron||n.*559T>G|||||102|,G|intron_variant|MODIFIER|RP5-1039K5.13|ENSG00000233739|transcript|ENST00000445483|antisense|1/1|n.76+1229A>C||||||,G|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000356976|protein_coding|9/12|c.690+26T>G||||||,G|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000404072|protein_coding|9/12|c.690+26T>G||||||,G|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000484021|retained_intron|9/11|n.929+26T>G|||||| 22 38468644 . C T . . ANN=T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|6/13|c.690+27C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|13/13|c.690+27C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|11/13|c.690+27C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|12/13|c.690+27C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|7/13|c.690+27C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|10/13|c.690+27C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|8/13|c.690+27C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|9/13|c.690+27C>T||||||,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000424694|protein_coding||c.*954C>T|||||29|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000437453|protein_coding||c.*544C>T|||||4523|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000426258|nonsense_mediated_decay||n.*397C>T|||||1746|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000468288|processed_transcript||n.*569C>T|||||1746|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000466374|retained_intron||n.*826C>T|||||4552|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000435166|protein_coding||c.*559C>T|||||3552|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000432756|nonsense_mediated_decay||n.*310C>T|||||909|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000472724|retained_intron||n.*555C>T|||||630|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000494434|retained_intron||n.*559C>T|||||103|,T|intron_variant|MODIFIER|RP5-1039K5.13|ENSG00000233739|transcript|ENST00000445483|antisense|1/1|n.76+1228G>A||||||,T|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000356976|protein_coding|9/12|c.690+27C>T||||||,T|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000404072|protein_coding|9/12|c.690+27C>T||||||,T|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000484021|retained_intron|9/11|n.929+27C>T|||||| 22 38469048 . G A . . ANN=A|synonymous_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000356976|protein_coding|10/13|c.732G>A|p.Pro244Pro|970/2055|732/1248|244/415||,A|synonymous_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000404072|protein_coding|10/13|c.732G>A|p.Pro244Pro|1079/2164|732/1248|244/415||,A|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|6/13|c.732G>A||||||,A|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|13/13|c.732G>A||||||,A|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|11/13|c.732G>A||||||,A|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|12/13|c.732G>A||||||,A|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|7/13|c.732G>A||||||,A|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|10/13|c.732G>A||||||,A|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|8/13|c.732G>A||||||,A|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|9/13|c.732G>A||||||,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000424694|protein_coding||c.*954G>A|||||433|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000437453|protein_coding||c.*544G>A|||||4927|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000426258|nonsense_mediated_decay||n.*397G>A|||||2150|,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000468288|processed_transcript||n.*569G>A|||||2150|,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000466374|retained_intron||n.*826G>A|||||4956|,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000435166|protein_coding||c.*559G>A|||||3956|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000432756|nonsense_mediated_decay||n.*310G>A|||||1313|,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000472724|retained_intron||n.*555G>A|||||1034|,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000494434|retained_intron||n.*559G>A|||||507|,A|intron_variant|MODIFIER|RP5-1039K5.13|ENSG00000233739|transcript|ENST00000445483|antisense|1/1|n.76+824C>T||||||,A|non_coding_exon_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000484021|retained_intron|10/12|n.971G>A|||||| 22 38469081 . C T . . ANN=T|synonymous_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000356976|protein_coding|10/13|c.765C>T|p.Asp255Asp|1003/2055|765/1248|255/415||,T|synonymous_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000404072|protein_coding|10/13|c.765C>T|p.Asp255Asp|1112/2164|765/1248|255/415||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|6/13|c.765C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|13/13|c.765C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|11/13|c.765C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|12/13|c.765C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|7/13|c.765C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|10/13|c.765C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|8/13|c.765C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|9/13|c.765C>T||||||,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000424694|protein_coding||c.*954C>T|||||466|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000437453|protein_coding||c.*544C>T|||||4960|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000426258|nonsense_mediated_decay||n.*397C>T|||||2183|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000468288|processed_transcript||n.*569C>T|||||2183|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000466374|retained_intron||n.*826C>T|||||4989|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000435166|protein_coding||c.*559C>T|||||3989|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000432756|nonsense_mediated_decay||n.*310C>T|||||1346|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000472724|retained_intron||n.*555C>T|||||1067|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000494434|retained_intron||n.*559C>T|||||540|,T|intron_variant|MODIFIER|RP5-1039K5.13|ENSG00000233739|transcript|ENST00000445483|antisense|1/1|n.76+791G>A||||||,T|non_coding_exon_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000484021|retained_intron|10/12|n.1004C>T|||||| 22 38470272 . G T . . ANN=T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|6/13|c.835-42G>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|13/13|c.835-42G>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|11/13|c.835-42G>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|12/13|c.835-42G>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|7/13|c.835-42G>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|10/13|c.835-42G>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|8/13|c.835-42G>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|9/13|c.835-42G>T||||||,T|upstream_gene_variant|MODIFIER|RP5-1039K5.13|ENSG00000233739|transcript|ENST00000445483|antisense||n.-1C>A|||||325|,T|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding||c.*1624C>A|||||3869|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000424694|protein_coding||c.*954G>T|||||1657|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000426258|nonsense_mediated_decay||n.*397G>T|||||3374|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000468288|processed_transcript||n.*569G>T|||||3374|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000432756|nonsense_mediated_decay||n.*310G>T|||||2537|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000472724|retained_intron||n.*555G>T|||||2258|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000494434|retained_intron||n.*559G>T|||||1731|,T|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript||n.*677C>A|||||3869|,T|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000356976|protein_coding|11/12|c.835-42G>T||||||,T|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000404072|protein_coding|11/12|c.835-42G>T||||||,T|non_coding_exon_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000484021|retained_intron|11/12|n.1515G>T|||||| 22 38470427 . G C . . ANN=C|synonymous_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000356976|protein_coding|12/13|c.948G>C|p.Leu316Leu|1186/2055|948/1248|316/415||,C|synonymous_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000404072|protein_coding|12/13|c.948G>C|p.Leu316Leu|1295/2164|948/1248|316/415||,C|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|6/13|c.948G>C||||||,C|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|13/13|c.948G>C||||||,C|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|11/13|c.948G>C||||||,C|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|12/13|c.948G>C||||||,C|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|7/13|c.948G>C||||||,C|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|10/13|c.948G>C||||||,C|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|8/13|c.948G>C||||||,C|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|9/13|c.948G>C||||||,C|upstream_gene_variant|MODIFIER|RP5-1039K5.13|ENSG00000233739|transcript|ENST00000445483|antisense||n.-1C>G|||||480|,C|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding||c.*1624C>G|||||3714|,C|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000424694|protein_coding||c.*954G>C|||||1812|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000426258|nonsense_mediated_decay||n.*397G>C|||||3529|,C|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000468288|processed_transcript||n.*569G>C|||||3529|,C|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000432756|nonsense_mediated_decay||n.*310G>C|||||2692|,C|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000472724|retained_intron||n.*555G>C|||||2413|,C|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000494434|retained_intron||n.*559G>C|||||1886|,C|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript||n.*677C>G|||||3714|,C|non_coding_exon_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000484021|retained_intron|11/12|n.1670G>C|||||| 22 38470464 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000356976|protein_coding|12/12|c.979+6C>T||||||,T|splice_region_variant&intron_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000404072|protein_coding|12/12|c.979+6C>T||||||,T|splice_region_variant&intron_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000484021|retained_intron|11/11|n.1701+6C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|6/13|c.979+6C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|13/13|c.979+6C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|11/13|c.979+6C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|12/13|c.979+6C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|7/13|c.979+6C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|10/13|c.979+6C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|8/13|c.979+6C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|9/13|c.979+6C>T||||||,T|upstream_gene_variant|MODIFIER|RP5-1039K5.13|ENSG00000233739|transcript|ENST00000445483|antisense||n.-1G>A|||||517|,T|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding||c.*1624G>A|||||3677|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000424694|protein_coding||c.*954C>T|||||1849|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000426258|nonsense_mediated_decay||n.*397C>T|||||3566|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000468288|processed_transcript||n.*569C>T|||||3566|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000432756|nonsense_mediated_decay||n.*310C>T|||||2729|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000472724|retained_intron||n.*555C>T|||||2450|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000494434|retained_intron||n.*559C>T|||||1923|,T|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript||n.*677G>A|||||3677| 22 38470467 . C T . . ANN=T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|6/13|c.979+9C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|13/13|c.979+9C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|11/13|c.979+9C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|12/13|c.979+9C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|7/13|c.979+9C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|10/13|c.979+9C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|8/13|c.979+9C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|9/13|c.979+9C>T||||||,T|upstream_gene_variant|MODIFIER|RP5-1039K5.13|ENSG00000233739|transcript|ENST00000445483|antisense||n.-1G>A|||||520|,T|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding||c.*1624G>A|||||3674|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000424694|protein_coding||c.*954C>T|||||1852|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000426258|nonsense_mediated_decay||n.*397C>T|||||3569|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000468288|processed_transcript||n.*569C>T|||||3569|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000432756|nonsense_mediated_decay||n.*310C>T|||||2732|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000472724|retained_intron||n.*555C>T|||||2453|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000494434|retained_intron||n.*559C>T|||||1926|,T|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript||n.*677G>A|||||3674|,T|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000356976|protein_coding|12/12|c.979+9C>T||||||,T|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000404072|protein_coding|12/12|c.979+9C>T||||||,T|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000484021|retained_intron|11/11|n.1701+9C>T|||||| 22 38470837 . C G . . ANN=G|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|6/13|c.980-34C>G||||||,G|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|13/13|c.980-34C>G||||||,G|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|11/13|c.980-34C>G||||||,G|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|12/13|c.980-34C>G||||||,G|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|7/13|c.980-34C>G||||||,G|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|10/13|c.980-34C>G||||||,G|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|8/13|c.980-34C>G||||||,G|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|9/13|c.980-34C>G||||||,G|upstream_gene_variant|MODIFIER|RP5-1039K5.13|ENSG00000233739|transcript|ENST00000445483|antisense||n.-1G>C|||||890|,G|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding||c.*1624G>C|||||3304|,G|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000424694|protein_coding||c.*954C>G|||||2222|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000426258|nonsense_mediated_decay||n.*397C>G|||||3939|,G|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000468288|processed_transcript||n.*569C>G|||||3939|,G|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000432756|nonsense_mediated_decay||n.*310C>G|||||3102|,G|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000472724|retained_intron||n.*555C>G|||||2823|,G|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000494434|retained_intron||n.*559C>G|||||2296|,G|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript||n.*677G>C|||||3304|,G|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000356976|protein_coding|12/12|c.980-34C>G||||||,G|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000404072|protein_coding|12/12|c.980-34C>G||||||,G|intron_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000484021|retained_intron|11/11|n.1702-34C>G|||||| 22 38470909 . A T . . ANN=T|missense_variant|MODERATE|PICK1|ENSG00000100151|transcript|ENST00000356976|protein_coding|13/13|c.1018A>T|p.Thr340Ser|1256/2055|1018/1248|340/415||,T|missense_variant|MODERATE|PICK1|ENSG00000100151|transcript|ENST00000404072|protein_coding|13/13|c.1018A>T|p.Thr340Ser|1365/2164|1018/1248|340/415||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|6/13|c.1018A>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|13/13|c.1018A>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|11/13|c.1018A>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|12/13|c.1018A>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|7/13|c.1018A>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|10/13|c.1018A>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|8/13|c.1018A>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|9/13|c.1018A>T||||||,T|upstream_gene_variant|MODIFIER|RP5-1039K5.13|ENSG00000233739|transcript|ENST00000445483|antisense||n.-1T>A|||||962|,T|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding||c.*1624T>A|||||3232|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000424694|protein_coding||c.*954A>T|||||2294|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000426258|nonsense_mediated_decay||n.*397A>T|||||4011|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000468288|processed_transcript||n.*569A>T|||||4011|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000432756|nonsense_mediated_decay||n.*310A>T|||||3174|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000472724|retained_intron||n.*555A>T|||||2895|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000494434|retained_intron||n.*559A>T|||||2368|,T|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript||n.*677T>A|||||3232|,T|non_coding_exon_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000484021|retained_intron|12/12|n.1740A>T|||||| 22 38470938 . C T . . ANN=T|synonymous_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000356976|protein_coding|13/13|c.1047C>T|p.Tyr349Tyr|1285/2055|1047/1248|349/415||,T|synonymous_variant|LOW|PICK1|ENSG00000100151|transcript|ENST00000404072|protein_coding|13/13|c.1047C>T|p.Tyr349Tyr|1394/2164|1047/1248|349/415||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|6/13|c.1047C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|13/13|c.1047C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|11/13|c.1047C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|12/13|c.1047C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|7/13|c.1047C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|10/13|c.1047C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|8/13|c.1047C>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|9/13|c.1047C>T||||||,T|upstream_gene_variant|MODIFIER|RP5-1039K5.13|ENSG00000233739|transcript|ENST00000445483|antisense||n.-1G>A|||||991|,T|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding||c.*1624G>A|||||3203|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000424694|protein_coding||c.*954C>T|||||2323|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000426258|nonsense_mediated_decay||n.*397C>T|||||4040|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000468288|processed_transcript||n.*569C>T|||||4040|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000432756|nonsense_mediated_decay||n.*310C>T|||||3203|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000472724|retained_intron||n.*555C>T|||||2924|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000494434|retained_intron||n.*559C>T|||||2397|,T|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript||n.*677G>A|||||3203|,T|non_coding_exon_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000484021|retained_intron|12/12|n.1769C>T|||||| 22 38471068 . G A . . ANN=A|missense_variant|MODERATE|PICK1|ENSG00000100151|transcript|ENST00000356976|protein_coding|13/13|c.1177G>A|p.Gly393Arg|1415/2055|1177/1248|393/415||,A|missense_variant|MODERATE|PICK1|ENSG00000100151|transcript|ENST00000404072|protein_coding|13/13|c.1177G>A|p.Gly393Arg|1524/2164|1177/1248|393/415||,A|upstream_gene_variant|MODIFIER|RP5-1039K5.13|ENSG00000233739|transcript|ENST00000445483|antisense||n.-1C>T|||||1121|,A|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding||c.*1624C>T|||||3073|,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000424694|protein_coding||c.*954G>A|||||2453|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000426258|nonsense_mediated_decay||n.*397G>A|||||4170|,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000468288|processed_transcript||n.*569G>A|||||4170|,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000432756|nonsense_mediated_decay||n.*310G>A|||||3333|,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000472724|retained_intron||n.*555G>A|||||3054|,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000494434|retained_intron||n.*559G>A|||||2527|,A|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript||n.*677C>T|||||3073|,A|non_coding_exon_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000484021|retained_intron|12/12|n.1899G>A|||||| 22 38471149 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000356976|protein_coding|13/13|c.*10G>A|||||10|,A|3_prime_UTR_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000404072|protein_coding|13/13|c.*10G>A|||||10|,A|upstream_gene_variant|MODIFIER|RP5-1039K5.13|ENSG00000233739|transcript|ENST00000445483|antisense||n.-1C>T|||||1202|,A|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding||c.*1624C>T|||||2992|,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000424694|protein_coding||c.*954G>A|||||2534|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000426258|nonsense_mediated_decay||n.*397G>A|||||4251|,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000468288|processed_transcript||n.*569G>A|||||4251|,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000432756|nonsense_mediated_decay||n.*310G>A|||||3414|,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000472724|retained_intron||n.*555G>A|||||3135|,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000494434|retained_intron||n.*559G>A|||||2608|,A|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript||n.*677C>T|||||2992|,A|non_coding_exon_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000484021|retained_intron|12/12|n.1980G>A|||||| 22 38474359 . CAA C . . ANN=|3_prime_UTR_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding|5/5|c.*34_*35delTT|||||34|,|upstream_gene_variant|MODIFIER|RP5-1039K5.13|ENSG00000233739|transcript|ENST00000445483|antisense||n.-1_-1delTT|||||4413|,|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000356976|protein_coding||c.*1486_*1486delAA|||||2652|,|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000404072|protein_coding||c.*1595_*1595delAA|||||2652|,|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000484021|retained_intron||n.*2531_*2531delAA|||||2660|,|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.*726_*726delTT|||||3602|WARNING_TRANSCRIPT_INCOMPLETE,|non_coding_exon_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript|2/2|n.457_458delTT|||||| 22 38474389 . CCT C . . ANN=|3_prime_UTR_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding|5/5|c.*4_*5delAG|||||4|,|upstream_gene_variant|MODIFIER|RP5-1039K5.13|ENSG00000233739|transcript|ENST00000445483|antisense||n.-1_-1delAG|||||4443|,|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000356976|protein_coding||c.*1486_*1486delCT|||||2682|,|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000404072|protein_coding||c.*1595_*1595delCT|||||2682|,|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000484021|retained_intron||n.*2531_*2531delCT|||||2690|,|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.*726_*726delAG|||||3572|WARNING_TRANSCRIPT_INCOMPLETE,|non_coding_exon_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript|2/2|n.427_428delAG|||||| 22 38474406 . C T . . ANN=T|missense_variant|MODERATE|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding|5/5|c.1504G>A|p.Glu502Lys|1613/1878|1504/1515|502/504||,T|sequence_feature|LOW|SLC16A8|ENSG00000100156|topological_domain:Cytoplasmic|ENST00000320521|protein_coding|5/5|c.1504G>A||||||,T|upstream_gene_variant|MODIFIER|RP5-1039K5.13|ENSG00000233739|transcript|ENST00000445483|antisense||n.-1G>A|||||4459|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000356976|protein_coding||c.*1486C>T|||||2698|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000404072|protein_coding||c.*1595C>T|||||2698|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000484021|retained_intron||n.*2531C>T|||||2706|,T|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.*726G>A|||||3556|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript|2/2|n.412G>A|||||| 22 38474450 . TCGCCCCGGGCG T . . ANN=|frameshift_variant|HIGH|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding|5/5|c.1449_1459delCGCCCGGGGCG|p.Ser483fs|1568/1878|1449/1515|483/504||,|sequence_feature|LOW|SLC16A8|ENSG00000100156|topological_domain:Cytoplasmic|ENST00000320521|protein_coding|5/5|c.1449_1459delCGCCCGGGGCG||||||,|upstream_gene_variant|MODIFIER|RP5-1039K5.13|ENSG00000233739|transcript|ENST00000445483|antisense||n.-1_-1delCGCCCGGGGCG|||||4504|,|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000356976|protein_coding||c.*1486_*1486delCGCCCCGGGCG|||||2743|,|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000404072|protein_coding||c.*1595_*1595delCGCCCCGGGCG|||||2743|,|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000484021|retained_intron||n.*2531_*2531delCGCCCCGGGCG|||||2751|,|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.*726_*726delCGCCCGGGGCG|||||3511|WARNING_TRANSCRIPT_INCOMPLETE,|non_coding_exon_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript|2/2|n.357_367delCGCCCGGGGCG|||||| 22 38474578 . G A . . ANN=A|synonymous_variant|LOW|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding|5/5|c.1332C>T|p.Gly444Gly|1441/1878|1332/1515|444/504||,A|sequence_feature|LOW|SLC16A8|ENSG00000100156|topological_domain:Cytoplasmic|ENST00000320521|protein_coding|5/5|c.1332C>T||||||,A|upstream_gene_variant|MODIFIER|RP5-1039K5.13|ENSG00000233739|transcript|ENST00000445483|antisense||n.-1C>T|||||4631|,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000356976|protein_coding||c.*1486G>A|||||2870|,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000404072|protein_coding||c.*1595G>A|||||2870|,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000484021|retained_intron||n.*2531G>A|||||2878|,A|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.*726C>T|||||3384|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript|2/2|n.240C>T|||||| 22 38474662 . G A . . ANN=A|synonymous_variant|LOW|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding|5/5|c.1248C>T|p.Ala416Ala|1357/1878|1248/1515|416/504||,A|sequence_feature|LOW|SLC16A8|ENSG00000100156|transmembrane_region:Transmembrane_region|ENST00000320521|protein_coding|5/5|c.1248C>T||||||,A|upstream_gene_variant|MODIFIER|RP5-1039K5.13|ENSG00000233739|transcript|ENST00000445483|antisense||n.-1C>T|||||4715|,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000356976|protein_coding||c.*1486G>A|||||2954|,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000404072|protein_coding||c.*1595G>A|||||2954|,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000484021|retained_intron||n.*2531G>A|||||2962|,A|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.*726C>T|||||3300|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript|2/2|n.156C>T|||||| 22 38474695 . C T . . ANN=T|synonymous_variant|LOW|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding|5/5|c.1215G>A|p.Val405Val|1324/1878|1215/1515|405/504||,T|sequence_feature|LOW|SLC16A8|ENSG00000100156|topological_domain:Extracellular|ENST00000320521|protein_coding|4/5|c.1215G>A||||||,T|sequence_feature|LOW|SLC16A8|ENSG00000100156|topological_domain:Extracellular|ENST00000320521|protein_coding|5/5|c.1215G>A||||||,T|upstream_gene_variant|MODIFIER|RP5-1039K5.13|ENSG00000233739|transcript|ENST00000445483|antisense||n.-1G>A|||||4748|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000356976|protein_coding||c.*1486C>T|||||2987|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000404072|protein_coding||c.*1595C>T|||||2987|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000484021|retained_intron||n.*2531C>T|||||2995|,T|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.*726G>A|||||3267|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript|2/2|n.123G>A|||||| 22 38474696 . A G . . ANN=G|missense_variant|MODERATE|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding|5/5|c.1214T>C|p.Val405Ala|1323/1878|1214/1515|405/504||,G|sequence_feature|LOW|SLC16A8|ENSG00000100156|topological_domain:Extracellular|ENST00000320521|protein_coding|4/5|c.1214T>C||||||,G|sequence_feature|LOW|SLC16A8|ENSG00000100156|topological_domain:Extracellular|ENST00000320521|protein_coding|5/5|c.1214T>C||||||,G|upstream_gene_variant|MODIFIER|RP5-1039K5.13|ENSG00000233739|transcript|ENST00000445483|antisense||n.-1T>C|||||4749|,G|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000356976|protein_coding||c.*1486A>G|||||2988|,G|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000404072|protein_coding||c.*1595A>G|||||2988|,G|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000484021|retained_intron||n.*2531A>G|||||2996|,G|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.*726T>C|||||3266|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript|2/2|n.122T>C|||||| 22 38474746 . GTCCTGTGGGGTCC G . . ANN=|sequence_feature|LOW|SLC16A8|ENSG00000100156|topological_domain:Extracellular|ENST00000320521|protein_coding|4/5|c.1199-48_1199-36delGGACCCCACAGGA||||||,|sequence_feature|LOW|SLC16A8|ENSG00000100156|topological_domain:Extracellular|ENST00000320521|protein_coding|5/5|c.1199-48_1199-36delGGACCCCACAGGA||||||,|upstream_gene_variant|MODIFIER|RP5-1039K5.13|ENSG00000233739|transcript|ENST00000445483|antisense||n.-1_-1delGGACCCCACAGGA|||||4800|,|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000356976|protein_coding||c.*1486_*1486delTCCTGTGGGGTCC|||||3039|,|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000404072|protein_coding||c.*1595_*1595delTCCTGTGGGGTCC|||||3039|,|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000484021|retained_intron||n.*2531_*2531delTCCTGTGGGGTCC|||||3047|,|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.*726_*726delGGACCCCACAGGA|||||3215|WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding|4/4|c.1199-48_1199-36delGGACCCCACAGGA||||||,|intron_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript|1/1|n.107-48_107-36delGGACCCCACAGGA|||||| 22 38474761 . C G . . ANN=G|sequence_feature|LOW|SLC16A8|ENSG00000100156|topological_domain:Extracellular|ENST00000320521|protein_coding|4/5|c.1199-50G>C||||||,G|sequence_feature|LOW|SLC16A8|ENSG00000100156|topological_domain:Extracellular|ENST00000320521|protein_coding|5/5|c.1199-50G>C||||||,G|upstream_gene_variant|MODIFIER|RP5-1039K5.13|ENSG00000233739|transcript|ENST00000445483|antisense||n.-1G>C|||||4814|,G|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000356976|protein_coding||c.*1486C>G|||||3053|,G|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000404072|protein_coding||c.*1595C>G|||||3053|,G|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000484021|retained_intron||n.*2531C>G|||||3061|,G|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.*726G>C|||||3201|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding|4/4|c.1199-50G>C||||||,G|intron_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript|1/1|n.107-50G>C|||||| 22 38476827 . C G . . ANN=G|sequence_feature|LOW|SLC16A8|ENSG00000100156|topological_domain:Extracellular|ENST00000320521|protein_coding|4/5|c.1198+20G>C||||||,G|sequence_feature|LOW|SLC16A8|ENSG00000100156|topological_domain:Extracellular|ENST00000320521|protein_coding|5/5|c.1198+20G>C||||||,G|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding||c.*1735G>C|||||4069|,G|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.*726G>C|||||1135|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding||c.*591G>C|||||4345|WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding|4/4|c.1198+20G>C||||||,G|intron_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript|1/1|n.107-2116G>C|||||| 22 38476946 . C T . . ANN=T|missense_variant|MODERATE|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding|4/5|c.1099G>A|p.Val367Met|1208/1878|1099/1515|367/504||,T|sequence_feature|LOW|SLC16A8|ENSG00000100156|topological_domain:Cytoplasmic|ENST00000320521|protein_coding|4/5|c.1099G>A||||||,T|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding||c.*1735G>A|||||3950|,T|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.*726G>A|||||1016|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding||c.*591G>A|||||4226|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript|1/1|n.107-2235G>A|||||| 22 38476989 . G C . . ANN=C|synonymous_variant|LOW|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding|4/5|c.1056C>G|p.Ala352Ala|1165/1878|1056/1515|352/504||,C|sequence_feature|LOW|SLC16A8|ENSG00000100156|transmembrane_region:Transmembrane_region|ENST00000320521|protein_coding|4/5|c.1056C>G||||||,C|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding||c.*1735C>G|||||3907|,C|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.*726C>G|||||973|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding||c.*591C>G|||||4183|WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript|1/1|n.107-2278C>G|||||| 22 38477070 . C T . . ANN=T|synonymous_variant|LOW|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding|4/5|c.975G>A|p.Leu325Leu|1084/1878|975/1515|325/504||,T|sequence_feature|LOW|SLC16A8|ENSG00000100156|transmembrane_region:Transmembrane_region|ENST00000320521|protein_coding|4/5|c.975G>A||||||,T|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding||c.*1735G>A|||||3826|,T|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.*726G>A|||||892|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding||c.*591G>A|||||4102|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript|1/1|n.107-2359G>A|||||| 22 38477106 . C T . . ANN=T|synonymous_variant|LOW|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding|4/5|c.939G>A|p.Ala313Ala|1048/1878|939/1515|313/504||,T|sequence_feature|LOW|SLC16A8|ENSG00000100156|topological_domain:Cytoplasmic|ENST00000320521|protein_coding|4/5|c.939G>A||||||,T|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding||c.*1735G>A|||||3790|,T|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.*726G>A|||||856|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding||c.*591G>A|||||4066|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript|1/1|n.107-2395G>A|||||| 22 38477137 . C A . . ANN=A|missense_variant|MODERATE|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding|4/5|c.908G>T|p.Arg303Leu|1017/1878|908/1515|303/504||,A|sequence_feature|LOW|SLC16A8|ENSG00000100156|transmembrane_region:Transmembrane_region|ENST00000320521|protein_coding|4/5|c.908G>T||||||,A|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding||c.*1735G>T|||||3759|,A|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.*726G>T|||||825|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding||c.*591G>T|||||4035|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript|1/1|n.107-2426G>T|||||| 22 38477156 . A C . . ANN=C|missense_variant|MODERATE|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding|4/5|c.889T>G|p.Phe297Val|998/1878|889/1515|297/504||,C|sequence_feature|LOW|SLC16A8|ENSG00000100156|transmembrane_region:Transmembrane_region|ENST00000320521|protein_coding|4/5|c.889T>G||||||,C|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding||c.*1735T>G|||||3740|,C|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.*726T>G|||||806|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding||c.*591T>G|||||4016|WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript|1/1|n.107-2445T>G|||||| 22 38477188 . G C . . ANN=C|missense_variant|MODERATE|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding|4/5|c.857C>G|p.Thr286Ser|966/1878|857/1515|286/504||,C|sequence_feature|LOW|SLC16A8|ENSG00000100156|topological_domain:Extracellular|ENST00000320521|protein_coding|4/5|c.857C>G||||||,C|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding||c.*1735C>G|||||3708|,C|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.*726C>G|||||774|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding||c.*591C>G|||||3984|WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript|1/1|n.107-2477C>G|||||| 22 38477275 . G A . . ANN=A|missense_variant|MODERATE|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding|4/5|c.770C>T|p.Ala257Val|879/1878|770/1515|257/504||,A|sequence_feature|LOW|SLC16A8|ENSG00000100156|transmembrane_region:Transmembrane_region|ENST00000320521|protein_coding|4/5|c.770C>T||||||,A|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding||c.*1735C>T|||||3621|,A|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.*726C>T|||||687|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding||c.*591C>T|||||3897|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript|1/1|n.107-2564C>T|||||| 22 38477342 . T A . . ANN=A|missense_variant|MODERATE|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding|4/5|c.703A>T|p.Arg235Trp|812/1878|703/1515|235/504||,A|sequence_feature|LOW|SLC16A8|ENSG00000100156|topological_domain:Cytoplasmic|ENST00000320521|protein_coding|4/5|c.703A>T||||||,A|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding||c.*1735A>T|||||3554|,A|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.*726A>T|||||620|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding||c.*591A>T|||||3830|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript|1/1|n.107-2631A>T|||||| 22 38477371 . G C . . ANN=C|missense_variant|MODERATE|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding|4/5|c.674C>G|p.Ala225Gly|783/1878|674/1515|225/504||,C|sequence_feature|LOW|SLC16A8|ENSG00000100156|topological_domain:Cytoplasmic|ENST00000320521|protein_coding|4/5|c.674C>G||||||,C|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding||c.*1735C>G|||||3525|,C|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.*726C>G|||||591|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding||c.*591C>G|||||3801|WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript|1/1|n.106+2624C>G|||||| 22 38477558 . G A . . ANN=A|missense_variant|MODERATE|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding|4/5|c.487C>T|p.Leu163Phe|596/1878|487/1515|163/504||,A|sequence_feature|LOW|SLC16A8|ENSG00000100156|transmembrane_region:Transmembrane_region|ENST00000320521|protein_coding|4/5|c.487C>T||||||,A|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding||c.*1735C>T|||||3338|,A|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.*726C>T|||||404|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding||c.*591C>T|||||3614|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript|1/1|n.106+2437C>T|||||| 22 38477589 . G T . . ANN=T|synonymous_variant|LOW|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding|4/5|c.456C>A|p.Gly152Gly|565/1878|456/1515|152/504||,T|sequence_feature|LOW|SLC16A8|ENSG00000100156|transmembrane_region:Transmembrane_region|ENST00000320521|protein_coding|4/5|c.456C>A||||||,T|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding||c.*1735C>A|||||3307|,T|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.*726C>A|||||373|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding||c.*591C>A|||||3583|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript|1/1|n.106+2406C>A|||||| 22 38477930 . G A . . ANN=A|synonymous_variant|LOW|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding|3/5|c.324C>T|p.Leu108Leu|433/1878|324/1515|108/504||,A|sequence_feature|LOW|SLC16A8|ENSG00000100156|topological_domain:Extracellular|ENST00000320521|protein_coding|3/5|c.324C>T||||||,A|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding||c.*1735C>T|||||2966|,A|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.*726C>T|||||32|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding||c.*591C>T|||||3242|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript|1/1|n.106+2065C>T|||||| 22 38477937 . G T . . ANN=T|missense_variant|MODERATE|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding|3/5|c.317C>A|p.Thr106Lys|426/1878|317/1515|106/504||,T|sequence_feature|LOW|SLC16A8|ENSG00000100156|transmembrane_region:Transmembrane_region|ENST00000320521|protein_coding|3/5|c.317C>A||||||,T|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding||c.*1735C>A|||||2959|,T|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.*726C>A|||||25|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding||c.*591C>A|||||3235|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript|1/1|n.106+2058C>A|||||| 22 38478071 . C T . . ANN=T|sequence_feature|LOW|SLC16A8|ENSG00000100156|transmembrane_region:Transmembrane_region|ENST00000320521|protein_coding|3/5|c.215-32G>A||||||,T|sequence_feature|LOW|SLC16A8|ENSG00000100156|transmembrane_region:Transmembrane_region|ENST00000320521|protein_coding|2/5|c.215-32G>A||||||,T|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding||c.*1735G>A|||||2825|,T|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding||c.*591G>A|||||3101|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding|2/4|c.215-32G>A||||||,T|intron_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript|1/1|n.106+1924G>A||||||,T|intron_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding|3/3|c.215-32G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 38478089 . T C . . ANN=C|sequence_feature|LOW|SLC16A8|ENSG00000100156|transmembrane_region:Transmembrane_region|ENST00000320521|protein_coding|3/5|c.215-50A>G||||||,C|sequence_feature|LOW|SLC16A8|ENSG00000100156|transmembrane_region:Transmembrane_region|ENST00000320521|protein_coding|2/5|c.215-50A>G||||||,C|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding||c.*1735A>G|||||2807|,C|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding||c.*591A>G|||||3083|WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding|2/4|c.215-50A>G||||||,C|intron_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript|1/1|n.106+1906A>G||||||,C|intron_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding|3/3|c.215-50A>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 38478666 . C G . . ANN=G|splice_donor_variant&intron_variant|HIGH|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding|2/4|c.214+1G>C||||||,G|splice_donor_variant&intron_variant|HIGH|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding|3/3|c.214+1G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|SLC16A8|ENSG00000100156|transmembrane_region:Transmembrane_region|ENST00000320521|protein_coding|3/5|c.214+1G>C||||||,G|sequence_feature|LOW|SLC16A8|ENSG00000100156|transmembrane_region:Transmembrane_region|ENST00000320521|protein_coding|2/5|c.214+1G>C||||||,G|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding||c.*1735G>C|||||2230|,G|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding||c.*591G>C|||||2506|WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript|1/1|n.106+1329G>C||||||;LOF=(SLC16A8|ENSG00000100156|3|0.67) 22 38478679 . G A . . ANN=A|missense_variant|MODERATE|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding|2/5|c.202C>T|p.Leu68Phe|311/1878|202/1515|68/504||,A|missense_variant|MODERATE|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding|3/4|c.202C>T|p.Leu68Phe|636/726|202/292|68/96||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|SLC16A8|ENSG00000100156|transmembrane_region:Transmembrane_region|ENST00000320521|protein_coding|3/5|c.202C>T||||||,A|sequence_feature|LOW|SLC16A8|ENSG00000100156|transmembrane_region:Transmembrane_region|ENST00000320521|protein_coding|2/5|c.202C>T||||||,A|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding||c.*1735C>T|||||2217|,A|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding||c.*591C>T|||||2493|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript|1/1|n.106+1316C>T|||||| 22 38478776 . G GA . . ANN=A|frameshift_variant|HIGH|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding|2/5|c.104dupT|p.Pro36fs|213/1878|104/1515|35/504||,A|frameshift_variant|HIGH|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding|3/4|c.104dupT|p.Pro36fs|538/726|104/292|35/96||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|SLC16A8|ENSG00000100156|transmembrane_region:Transmembrane_region|ENST00000320521|protein_coding|2/5|c.104dupT||||||,A|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding||c.*1735dupT|||||2119|,A|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding||c.*591dupT|||||2395|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript|1/1|n.106+1218dupT||||||;LOF=(SLC16A8|ENSG00000100156|3|0.67) 22 38478875 . G T . . ANN=T|synonymous_variant|LOW|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding|2/5|c.6C>A|p.Gly2Gly|115/1878|6/1515|2/504||,T|synonymous_variant|LOW|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding|3/4|c.6C>A|p.Gly2Gly|440/726|6/292|2/96||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|SLC16A8|ENSG00000100156|topological_domain:Cytoplasmic|ENST00000320521|protein_coding|2/5|c.6C>A||||||,T|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding||c.*1735C>A|||||2021|,T|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding||c.*591C>A|||||2297|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript|1/1|n.106+1120C>A|||||| 22 38481287 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding|14/14|c.*20C>T|||||20|,A|3_prime_UTR_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding|4/4|c.*45C>T|||||45|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding||c.-110C>T|||||2138|,A|upstream_gene_variant|MODIFIER|CTA-228A9.3|ENSG00000272720|transcript|ENST00000609162|lincRNA||n.-1G>A|||||4847|,A|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript||n.-1C>T|||||1187|,A|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.-435C>T|||||1187|WARNING_TRANSCRIPT_INCOMPLETE 22 38481291 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding|14/14|c.*16C>T|||||16|,A|3_prime_UTR_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding|4/4|c.*41C>T|||||41|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding||c.-110C>T|||||2142|,A|upstream_gene_variant|MODIFIER|CTA-228A9.3|ENSG00000272720|transcript|ENST00000609162|lincRNA||n.-1G>A|||||4843|,A|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript||n.-1C>T|||||1191|,A|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.-435C>T|||||1191|WARNING_TRANSCRIPT_INCOMPLETE 22 38481297 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding|14/14|c.*10C>T|||||10|,A|3_prime_UTR_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding|4/4|c.*35C>T|||||35|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding||c.-110C>T|||||2148|,A|upstream_gene_variant|MODIFIER|CTA-228A9.3|ENSG00000272720|transcript|ENST00000609162|lincRNA||n.-1G>A|||||4837|,A|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript||n.-1C>T|||||1197|,A|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.-435C>T|||||1197|WARNING_TRANSCRIPT_INCOMPLETE 22 38481303 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding|14/14|c.*4G>A|||||4|,T|3_prime_UTR_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding|4/4|c.*29G>A|||||29|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding||c.-110G>A|||||2154|,T|upstream_gene_variant|MODIFIER|CTA-228A9.3|ENSG00000272720|transcript|ENST00000609162|lincRNA||n.-1C>T|||||4831|,T|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript||n.-1G>A|||||1203|,T|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.-435G>A|||||1203|WARNING_TRANSCRIPT_INCOMPLETE 22 38481304 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding|14/14|c.*3C>T|||||3|,A|3_prime_UTR_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding|4/4|c.*28C>T|||||28|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding||c.-110C>T|||||2155|,A|upstream_gene_variant|MODIFIER|CTA-228A9.3|ENSG00000272720|transcript|ENST00000609162|lincRNA||n.-1G>A|||||4830|,A|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript||n.-1C>T|||||1204|,A|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.-435C>T|||||1204|WARNING_TRANSCRIPT_INCOMPLETE 22 38481311 . C A . . ANN=A|missense_variant|MODERATE|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding|14/14|c.1586G>T|p.Arg529Leu|1731/2146|1586/1590|529/529||,A|3_prime_UTR_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding|4/4|c.*21G>T|||||21|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding||c.-110G>T|||||2162|,A|upstream_gene_variant|MODIFIER|CTA-228A9.3|ENSG00000272720|transcript|ENST00000609162|lincRNA||n.-1C>A|||||4823|,A|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript||n.-1G>T|||||1211|,A|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.-435G>T|||||1211|WARNING_TRANSCRIPT_INCOMPLETE 22 38481347 . G C . . ANN=C|missense_variant|MODERATE|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding|14/14|c.1550C>G|p.Pro517Arg|1695/2146|1550/1590|517/529||,C|synonymous_variant|LOW|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding|4/4|c.576C>G|p.Ser192Ser|576/751|576/591|192/196||WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding||c.-110C>G|||||2198|,C|upstream_gene_variant|MODIFIER|CTA-228A9.3|ENSG00000272720|transcript|ENST00000609162|lincRNA||n.-1G>C|||||4787|,C|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript||n.-1C>G|||||1247|,C|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.-435C>G|||||1247|WARNING_TRANSCRIPT_INCOMPLETE 22 38481387 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding|13/13|c.1515-5T>C||||||,G|splice_region_variant&intron_variant|LOW|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding|3/3|c.541-5T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding||c.-110T>C|||||2238|,G|upstream_gene_variant|MODIFIER|CTA-228A9.3|ENSG00000272720|transcript|ENST00000609162|lincRNA||n.-1A>G|||||4747|,G|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript||n.-1T>C|||||1287|,G|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.-435T>C|||||1287|WARNING_TRANSCRIPT_INCOMPLETE 22 38481643 . G A . . ANN=A|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding||c.-110C>T|||||2494|,A|upstream_gene_variant|MODIFIER|CTA-228A9.3|ENSG00000272720|transcript|ENST00000609162|lincRNA||n.-1G>A|||||4491|,A|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript||n.-1C>T|||||1543|,A|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.-435C>T|||||1543|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding|13/13|c.1514+50C>T||||||,A|intron_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding|3/3|c.541-261C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 38481645 . C T . . ANN=T|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding||c.-110G>A|||||2496|,T|upstream_gene_variant|MODIFIER|CTA-228A9.3|ENSG00000272720|transcript|ENST00000609162|lincRNA||n.-1C>T|||||4489|,T|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript||n.-1G>A|||||1545|,T|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.-435G>A|||||1545|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding|13/13|c.1514+48G>A||||||,T|intron_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding|3/3|c.541-263G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 38482214 . C T . . ANN=T|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding||c.-110G>A|||||3065|,T|upstream_gene_variant|MODIFIER|CTA-228A9.3|ENSG00000272720|transcript|ENST00000609162|lincRNA||n.-1C>T|||||3920|,T|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript||n.-1G>A|||||2114|,T|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.-435G>A|||||2114|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding|12/13|c.1467+35G>A||||||,T|intron_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding|3/3|c.540+35G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 38482255 . G A . . ANN=A|synonymous_variant|LOW|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding|12/14|c.1461C>T|p.Asp487Asp|1606/2146|1461/1590|487/529||,A|synonymous_variant|LOW|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding|3/4|c.534C>T|p.Asp178Asp|534/751|534/591|178/196||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding||c.-110C>T|||||3106|,A|upstream_gene_variant|MODIFIER|CTA-228A9.3|ENSG00000272720|transcript|ENST00000609162|lincRNA||n.-1G>A|||||3879|,A|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript||n.-1C>T|||||2155|,A|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.-435C>T|||||2155|WARNING_TRANSCRIPT_INCOMPLETE 22 38482352 . GTGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTA G . . ANN=|disruptive_inframe_deletion|MODERATE|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding|12/14|c.1322_1363delTAGCACCCTCGGAGTACTGGGATGGCCAGTCCCGCTCCCGCA|p.Ile441_Arg454del|1508/2146|1322/1590|441/529||,|disruptive_inframe_deletion|MODERATE|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding|3/4|c.395_436delTAGCACCCTCGGAGTACTGGGATGGCCAGTCCCGCTCCCGCA|p.Ile132_Arg145del|436/751|395/591|132/196||WARNING_TRANSCRIPT_NO_START_CODON,|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding||c.-110_-110delTAGCACCCTCGGAGTACTGGGATGGCCAGTCCCGCTCCCGCA|||||3204|,|upstream_gene_variant|MODIFIER|CTA-228A9.3|ENSG00000272720|transcript|ENST00000609162|lincRNA||n.-1_-1delTGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTA|||||3781|,|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript||n.-1_-1delTAGCACCCTCGGAGTACTGGGATGGCCAGTCCCGCTCCCGCA|||||2253|,|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.-435_-435delTAGCACCCTCGGAGTACTGGGATGGCCAGTCCCGCTCCCGCA|||||2253|WARNING_TRANSCRIPT_INCOMPLETE 22 38482355 . C G . . ANN=G|missense_variant|MODERATE|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding|12/14|c.1361G>C|p.Arg454Pro|1506/2146|1361/1590|454/529||,G|missense_variant|MODERATE|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding|3/4|c.434G>C|p.Arg145Pro|434/751|434/591|145/196||WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding||c.-110G>C|||||3206|,G|upstream_gene_variant|MODIFIER|CTA-228A9.3|ENSG00000272720|transcript|ENST00000609162|lincRNA||n.-1C>G|||||3779|,G|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript||n.-1G>C|||||2255|,G|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.-435G>C|||||2255|WARNING_TRANSCRIPT_INCOMPLETE 22 38482409 . C T . . ANN=T|missense_variant|MODERATE|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding|12/14|c.1307G>A|p.Arg436Gln|1452/2146|1307/1590|436/529||,T|missense_variant|MODERATE|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding|3/4|c.380G>A|p.Arg127Gln|380/751|380/591|127/196||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding||c.-110G>A|||||3260|,T|upstream_gene_variant|MODIFIER|CTA-228A9.3|ENSG00000272720|transcript|ENST00000609162|lincRNA||n.-1C>T|||||3725|,T|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript||n.-1G>A|||||2309|,T|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.-435G>A|||||2309|WARNING_TRANSCRIPT_INCOMPLETE 22 38482426 . G A . . ANN=A|synonymous_variant|LOW|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding|12/14|c.1290C>T|p.Leu430Leu|1435/2146|1290/1590|430/529||,A|synonymous_variant|LOW|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding|3/4|c.363C>T|p.Leu121Leu|363/751|363/591|121/196||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding||c.-110C>T|||||3277|,A|upstream_gene_variant|MODIFIER|CTA-228A9.3|ENSG00000272720|transcript|ENST00000609162|lincRNA||n.-1G>A|||||3708|,A|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript||n.-1C>T|||||2326|,A|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.-435C>T|||||2326|WARNING_TRANSCRIPT_INCOMPLETE 22 38482449 . G T . . ANN=T|missense_variant|MODERATE|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding|12/14|c.1267C>A|p.Pro423Thr|1412/2146|1267/1590|423/529||,T|missense_variant|MODERATE|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding|3/4|c.340C>A|p.Pro114Thr|340/751|340/591|114/196||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding||c.-110C>A|||||3300|,T|upstream_gene_variant|MODIFIER|CTA-228A9.3|ENSG00000272720|transcript|ENST00000609162|lincRNA||n.-1G>T|||||3685|,T|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript||n.-1C>A|||||2349|,T|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.-435C>A|||||2349|WARNING_TRANSCRIPT_INCOMPLETE 22 38482491 . T C . . ANN=C|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding||c.-110A>G|||||3342|,C|upstream_gene_variant|MODIFIER|CTA-228A9.3|ENSG00000272720|transcript|ENST00000609162|lincRNA||n.-1T>C|||||3643|,C|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript||n.-1A>G|||||2391|,C|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.-435A>G|||||2391|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding|11/13|c.1260-35A>G||||||,C|intron_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding|2/3|c.333-35A>G||||||WARNING_TRANSCRIPT_NO_START_CODON 22 38483155 . T TTCATGGGTG . . ANN=TCATGGGTG|inframe_insertion|MODERATE|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding|11/14|c.1226_1234dupCACCCATGA|p.Thr409_Met411dup|1379/2146|1234/1590|412/529||,TCATGGGTG|inframe_insertion|MODERATE|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding|2/4|c.299_307dupCACCCATGA|p.Thr100_Met102dup|307/751|307/591|103/196||WARNING_TRANSCRIPT_NO_START_CODON,TCATGGGTG|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding||c.-110_-110dupCACCCATGA|||||4007|,TCATGGGTG|upstream_gene_variant|MODIFIER|CTA-228A9.3|ENSG00000272720|transcript|ENST00000609162|lincRNA||n.-1_-1insTCATGGGTG|||||2978|,TCATGGGTG|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript||n.-1_-1dupCACCCATGA|||||3056|,TCATGGGTG|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.-435_-435dupCACCCATGA|||||3056|WARNING_TRANSCRIPT_INCOMPLETE 22 38483156 . T TCATGGGTGT . . ANN=CATGGGTGT|inframe_insertion|MODERATE|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding|11/14|c.1225_1233dupACACCCATG|p.Thr409_Met411dup|1378/2146|1233/1590|411/529||,CATGGGTGT|inframe_insertion|MODERATE|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding|2/4|c.298_306dupACACCCATG|p.Thr100_Met102dup|306/751|306/591|102/196||WARNING_TRANSCRIPT_NO_START_CODON,CATGGGTGT|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding||c.-110_-110dupACACCCATG|||||4008|,CATGGGTGT|upstream_gene_variant|MODIFIER|CTA-228A9.3|ENSG00000272720|transcript|ENST00000609162|lincRNA||n.-1_-1insCATGGGTGT|||||2977|,CATGGGTGT|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript||n.-1_-1dupACACCCATG|||||3057|,CATGGGTGT|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.-435_-435dupACACCCATG|||||3057|WARNING_TRANSCRIPT_INCOMPLETE 22 38483171 . G A . . ANN=A|missense_variant|MODERATE|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding|11/14|c.1219C>T|p.Pro407Ser|1364/2146|1219/1590|407/529||,A|missense_variant|MODERATE|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding|2/4|c.292C>T|p.Pro98Ser|292/751|292/591|98/196||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding||c.-110C>T|||||4022|,A|upstream_gene_variant|MODIFIER|CTA-228A9.3|ENSG00000272720|transcript|ENST00000609162|lincRNA||n.-1G>A|||||2963|,A|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript||n.-1C>T|||||3071|,A|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.-435C>T|||||3071|WARNING_TRANSCRIPT_INCOMPLETE 22 38483174 . A ACATGGAGGT . . ANN=CATGGAGGT|inframe_insertion|MODERATE|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding|11/14|c.1207_1215dupACCTCCATG|p.Thr403_Met405dup|1360/2146|1215/1590|405/529||,CATGGAGGT|inframe_insertion|MODERATE|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding|2/4|c.280_288dupACCTCCATG|p.Thr94_Met96dup|288/751|288/591|96/196||WARNING_TRANSCRIPT_NO_START_CODON,CATGGAGGT|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding||c.-110_-110dupACCTCCATG|||||4026|,CATGGAGGT|upstream_gene_variant|MODIFIER|CTA-228A9.3|ENSG00000272720|transcript|ENST00000609162|lincRNA||n.-1_-1insCATGGAGGT|||||2959|,CATGGAGGT|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript||n.-1_-1dupACCTCCATG|||||3075|,CATGGAGGT|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.-435_-435dupACCTCCATG|||||3075|WARNING_TRANSCRIPT_INCOMPLETE 22 38483189 . A AGGTCATGGG . . ANN=GGTCATGGG|inframe_insertion|MODERATE|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding|11/14|c.1192_1200dupCCCATGACC|p.Pro398_Thr400dup|1345/2146|1200/1590|400/529||,GGTCATGGG|inframe_insertion|MODERATE|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding|2/4|c.265_273dupCCCATGACC|p.Pro89_Thr91dup|273/751|273/591|91/196||WARNING_TRANSCRIPT_NO_START_CODON,GGTCATGGG|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding||c.-110_-110dupCCCATGACC|||||4041|,GGTCATGGG|upstream_gene_variant|MODIFIER|CTA-228A9.3|ENSG00000272720|transcript|ENST00000609162|lincRNA||n.-1_-1insGGTCATGGG|||||2944|,GGTCATGGG|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript||n.-1_-1dupCCCATGACC|||||3090|,GGTCATGGG|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.-435_-435dupCCCATGACC|||||3090|WARNING_TRANSCRIPT_INCOMPLETE 22 38483195 . T TGGGGGTCAC . . ANN=GGGGGTCAC|inframe_insertion|MODERATE|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding|11/14|c.1186_1194dupGTGACCCCC|p.Val396_Pro398dup|1339/2146|1194/1590|398/529||,GGGGGTCAC|inframe_insertion|MODERATE|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding|2/4|c.259_267dupGTGACCCCC|p.Val87_Pro89dup|267/751|267/591|89/196||WARNING_TRANSCRIPT_NO_START_CODON,GGGGGTCAC|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding||c.-110_-110dupGTGACCCCC|||||4047|,GGGGGTCAC|upstream_gene_variant|MODIFIER|CTA-228A9.3|ENSG00000272720|transcript|ENST00000609162|lincRNA||n.-1_-1insGGGGGTCAC|||||2938|,GGGGGTCAC|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript||n.-1_-1dupGTGACCCCC|||||3096|,GGGGGTCAC|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.-435_-435dupGTGACCCCC|||||3096|WARNING_TRANSCRIPT_INCOMPLETE 22 38483215 . G T . . ANN=T|missense_variant|MODERATE|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding|11/14|c.1175C>A|p.Pro392His|1320/2146|1175/1590|392/529||,T|missense_variant|MODERATE|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding|2/4|c.248C>A|p.Pro83His|248/751|248/591|83/196||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding||c.-110C>A|||||4066|,T|upstream_gene_variant|MODIFIER|CTA-228A9.3|ENSG00000272720|transcript|ENST00000609162|lincRNA||n.-1G>T|||||2919|,T|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript||n.-1C>A|||||3115|,T|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.-435C>A|||||3115|WARNING_TRANSCRIPT_INCOMPLETE 22 38483220 . C G . . ANN=G|synonymous_variant|LOW|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding|11/14|c.1170G>C|p.Val390Val|1315/2146|1170/1590|390/529||,G|synonymous_variant|LOW|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding|2/4|c.243G>C|p.Val81Val|243/751|243/591|81/196||WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding||c.-110G>C|||||4071|,G|upstream_gene_variant|MODIFIER|CTA-228A9.3|ENSG00000272720|transcript|ENST00000609162|lincRNA||n.-1C>G|||||2914|,G|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript||n.-1G>C|||||3120|,G|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.-435G>C|||||3120|WARNING_TRANSCRIPT_INCOMPLETE 22 38483222 . C T . . ANN=T|missense_variant|MODERATE|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding|11/14|c.1168G>A|p.Val390Met|1313/2146|1168/1590|390/529||,T|missense_variant|MODERATE|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding|2/4|c.241G>A|p.Val81Met|241/751|241/591|81/196||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding||c.-110G>A|||||4073|,T|upstream_gene_variant|MODIFIER|CTA-228A9.3|ENSG00000272720|transcript|ENST00000609162|lincRNA||n.-1C>T|||||2912|,T|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript||n.-1G>A|||||3122|,T|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.-435G>A|||||3122|WARNING_TRANSCRIPT_INCOMPLETE 22 38483247 . G A . . ANN=A|synonymous_variant|LOW|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding|11/14|c.1143C>T|p.Tyr381Tyr|1288/2146|1143/1590|381/529||,A|synonymous_variant|LOW|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding|2/4|c.216C>T|p.Tyr72Tyr|216/751|216/591|72/196||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:SH3|ENST00000381669|protein_coding|10/14|c.1143C>T||||||,A|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:SH3|ENST00000381669|protein_coding|11/14|c.1143C>T||||||,A|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding||c.-110C>T|||||4098|,A|upstream_gene_variant|MODIFIER|CTA-228A9.3|ENSG00000272720|transcript|ENST00000609162|lincRNA||n.-1G>A|||||2887|,A|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript||n.-1C>T|||||3147|,A|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.-435C>T|||||3147|WARNING_TRANSCRIPT_INCOMPLETE 22 38484755 . G A . . ANN=A|missense_variant&splice_region_variant|MODERATE|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding|10/14|c.1118C>T|p.Ala373Val|1263/2146|1118/1590|373/529||,A|missense_variant&splice_region_variant|MODERATE|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding|1/4|c.191C>T|p.Ala64Val|191/751|191/591|64/196||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:SH3|ENST00000381669|protein_coding|10/14|c.1118C>T||||||,A|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:SH3|ENST00000381669|protein_coding|11/14|c.1118C>T||||||,A|upstream_gene_variant|MODIFIER|CTA-228A9.3|ENSG00000272720|transcript|ENST00000609162|lincRNA||n.-1G>A|||||1379|,A|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript||n.-1C>T|||||4655|,A|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.-435C>T|||||4655|WARNING_TRANSCRIPT_INCOMPLETE 22 38485064 . C G . . ANN=G|upstream_gene_variant|MODIFIER|CTA-228A9.3|ENSG00000272720|transcript|ENST00000609162|lincRNA||n.-1C>G|||||1070|,G|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript||n.-1G>C|||||4964|,G|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.-435G>C|||||4964|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding||c.-1G>C|||||119|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000332536|protein_coding||c.*804G>C|||||4857|,G|intron_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding|9/13|c.901+39G>C|||||| 22 38485540 . A G . . ANN=G|missense_variant|MODERATE|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding|8/14|c.754T>C|p.Cys252Arg|899/2146|754/1590|252/529||,G|upstream_gene_variant|MODIFIER|CTA-228A9.3|ENSG00000272720|transcript|ENST00000609162|lincRNA||n.-1A>G|||||594|,G|upstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding||c.-1T>C|||||595|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000332536|protein_coding||c.*804T>C|||||4381| 22 38493026 . C A . . ANN=A|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|7/14|c.612+13G>T||||||,A|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|1/14|c.612+13G>T||||||,A|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|2/14|c.612+13G>T||||||,A|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|4/14|c.612+13G>T||||||,A|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|3/14|c.612+13G>T||||||,A|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|8/14|c.612+13G>T||||||,A|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|6/14|c.612+13G>T||||||,A|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|5/14|c.612+13G>T||||||,A|intron_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding|7/13|c.612+13G>T||||||,A|intron_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000332536|protein_coding|7/7|c.612+13G>T|||||| 22 38493078 . G C . . ANN=C|missense_variant|MODERATE|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding|7/14|c.573C>G|p.His191Gln|718/2146|573/1590|191/529||,C|missense_variant|MODERATE|BAIAP2L2|ENSG00000128298|transcript|ENST00000332536|protein_coding|7/8|c.573C>G|p.His191Gln|717/804|573/660|191/219||,C|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|7/14|c.573C>G||||||,C|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|1/14|c.573C>G||||||,C|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|2/14|c.573C>G||||||,C|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|4/14|c.573C>G||||||,C|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|3/14|c.573C>G||||||,C|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|8/14|c.573C>G||||||,C|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|6/14|c.573C>G||||||,C|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|5/14|c.573C>G|||||| 22 38493150 . G T . . ANN=T|synonymous_variant|LOW|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding|7/14|c.501C>A|p.Ala167Ala|646/2146|501/1590|167/529||,T|synonymous_variant|LOW|BAIAP2L2|ENSG00000128298|transcript|ENST00000332536|protein_coding|7/8|c.501C>A|p.Ala167Ala|645/804|501/660|167/219||,T|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|7/14|c.501C>A||||||,T|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|1/14|c.501C>A||||||,T|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|2/14|c.501C>A||||||,T|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|4/14|c.501C>A||||||,T|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|3/14|c.501C>A||||||,T|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|8/14|c.501C>A||||||,T|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|6/14|c.501C>A||||||,T|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|5/14|c.501C>A|||||| 22 38493187 . TG T . . ANN=|splice_region_variant&intron_variant|LOW|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding|6/13|c.466-3delC||||||,|splice_region_variant&intron_variant|LOW|BAIAP2L2|ENSG00000128298|transcript|ENST00000332536|protein_coding|6/7|c.466-3delC||||||,|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|7/14|c.466-3delC||||||,|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|1/14|c.466-3delC||||||,|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|2/14|c.466-3delC||||||,|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|4/14|c.466-3delC||||||,|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|3/14|c.466-3delC||||||,|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|8/14|c.466-3delC||||||,|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|6/14|c.466-3delC||||||,|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|5/14|c.466-3delC|||||| 22 38493196 . A T . . ANN=T|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|7/14|c.466-11T>A||||||,T|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|1/14|c.466-11T>A||||||,T|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|2/14|c.466-11T>A||||||,T|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|4/14|c.466-11T>A||||||,T|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|3/14|c.466-11T>A||||||,T|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|8/14|c.466-11T>A||||||,T|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|6/14|c.466-11T>A||||||,T|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|5/14|c.466-11T>A||||||,T|intron_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding|6/13|c.466-11T>A||||||,T|intron_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000332536|protein_coding|6/7|c.466-11T>A|||||| 22 38494032 . G A . . ANN=A|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|7/14|c.465+38C>T||||||,A|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|1/14|c.465+38C>T||||||,A|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|2/14|c.465+38C>T||||||,A|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|4/14|c.465+38C>T||||||,A|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|3/14|c.465+38C>T||||||,A|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|8/14|c.465+38C>T||||||,A|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|6/14|c.465+38C>T||||||,A|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|5/14|c.465+38C>T||||||,A|intron_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding|6/13|c.465+38C>T||||||,A|intron_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000332536|protein_coding|6/7|c.465+38C>T|||||| 22 38494040 . T A . . ANN=A|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|7/14|c.465+30A>T||||||,A|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|1/14|c.465+30A>T||||||,A|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|2/14|c.465+30A>T||||||,A|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|4/14|c.465+30A>T||||||,A|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|3/14|c.465+30A>T||||||,A|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|8/14|c.465+30A>T||||||,A|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|6/14|c.465+30A>T||||||,A|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|5/14|c.465+30A>T||||||,A|intron_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding|6/13|c.465+30A>T||||||,A|intron_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000332536|protein_coding|6/7|c.465+30A>T|||||| 22 38494394 . G T . . ANN=T|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|7/14|c.348+24C>A||||||,T|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|1/14|c.348+24C>A||||||,T|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|2/14|c.348+24C>A||||||,T|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|4/14|c.348+24C>A||||||,T|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|3/14|c.348+24C>A||||||,T|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|8/14|c.348+24C>A||||||,T|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|6/14|c.348+24C>A||||||,T|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|5/14|c.348+24C>A||||||,T|intron_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding|5/13|c.348+24C>A||||||,T|intron_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000332536|protein_coding|5/7|c.348+24C>A|||||| 22 38503847 . C T . . ANN=T|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|7/14|c.276+12G>A||||||,T|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|1/14|c.276+12G>A||||||,T|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|2/14|c.276+12G>A||||||,T|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|4/14|c.276+12G>A||||||,T|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|3/14|c.276+12G>A||||||,T|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|8/14|c.276+12G>A||||||,T|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|6/14|c.276+12G>A||||||,T|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|5/14|c.276+12G>A||||||,T|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding||c.*2605G>A|||||3655|,T|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding||c.*2395G>A|||||3656|,T|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding||c.*2350G>A|||||3660|,T|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000463287|retained_intron||n.*786G>A|||||4032|,T|intron_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding|4/13|c.276+12G>A||||||,T|intron_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000332536|protein_coding|4/7|c.276+12G>A|||||| 22 38503967 . C T . . ANN=T|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|7/14|c.215-47G>A||||||,T|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|1/14|c.215-47G>A||||||,T|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|2/14|c.215-47G>A||||||,T|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|4/14|c.215-47G>A||||||,T|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|3/14|c.215-47G>A||||||,T|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|8/14|c.215-47G>A||||||,T|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|6/14|c.215-47G>A||||||,T|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|5/14|c.215-47G>A||||||,T|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding||c.*2605G>A|||||3535|,T|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding||c.*2395G>A|||||3536|,T|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding||c.*2350G>A|||||3540|,T|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000463287|retained_intron||n.*786G>A|||||3912|,T|intron_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding|3/13|c.215-47G>A||||||,T|intron_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000332536|protein_coding|3/7|c.215-47G>A|||||| 22 38503968 . C T . . ANN=T|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|7/14|c.215-48G>A||||||,T|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|1/14|c.215-48G>A||||||,T|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|2/14|c.215-48G>A||||||,T|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|4/14|c.215-48G>A||||||,T|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|3/14|c.215-48G>A||||||,T|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|8/14|c.215-48G>A||||||,T|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|6/14|c.215-48G>A||||||,T|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|5/14|c.215-48G>A||||||,T|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding||c.*2605G>A|||||3534|,T|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding||c.*2395G>A|||||3535|,T|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding||c.*2350G>A|||||3539|,T|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000463287|retained_intron||n.*786G>A|||||3911|,T|intron_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding|3/13|c.215-48G>A||||||,T|intron_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000332536|protein_coding|3/7|c.215-48G>A|||||| 22 38504372 . T C . . ANN=C|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|7/14|c.128-24A>G||||||,C|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|1/14|c.128-24A>G||||||,C|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|2/14|c.128-24A>G||||||,C|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|4/14|c.128-24A>G||||||,C|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|3/14|c.128-24A>G||||||,C|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|8/14|c.128-24A>G||||||,C|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|6/14|c.128-24A>G||||||,C|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|5/14|c.128-24A>G||||||,C|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding||c.*2605A>G|||||3130|,C|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding||c.*2395A>G|||||3131|,C|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding||c.*2350A>G|||||3135|,C|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000463287|retained_intron||n.*786A>G|||||3507|,C|intron_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding|2/13|c.128-24A>G||||||,C|intron_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000332536|protein_coding|2/7|c.128-24A>G|||||| 22 38505100 . G A . . ANN=A|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|7/14|c.127+40C>T||||||,A|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|1/14|c.127+40C>T||||||,A|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|2/14|c.127+40C>T||||||,A|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|4/14|c.127+40C>T||||||,A|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|3/14|c.127+40C>T||||||,A|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|8/14|c.127+40C>T||||||,A|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|6/14|c.127+40C>T||||||,A|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|5/14|c.127+40C>T||||||,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding||c.*2605C>T|||||2402|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding||c.*2395C>T|||||2403|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding||c.*2350C>T|||||2407|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000463287|retained_intron||n.*786C>T|||||2779|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000496409|retained_intron||n.*859C>T|||||4445|,A|intron_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding|2/13|c.127+40C>T||||||,A|intron_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000332536|protein_coding|2/7|c.127+40C>T|||||| 22 38506509 . A G . . ANN=G|synonymous_variant|LOW|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding|1/14|c.24T>C|p.Phe8Phe|169/2146|24/1590|8/529||,G|synonymous_variant|LOW|BAIAP2L2|ENSG00000128298|transcript|ENST00000332536|protein_coding|1/8|c.24T>C|p.Phe8Phe|168/804|24/660|8/219||,G|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|7/14|c.24T>C||||||,G|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|1/14|c.24T>C||||||,G|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|2/14|c.24T>C||||||,G|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|4/14|c.24T>C||||||,G|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|3/14|c.24T>C||||||,G|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|8/14|c.24T>C||||||,G|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|6/14|c.24T>C||||||,G|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|5/14|c.24T>C||||||,G|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding||c.*2605T>C|||||993|,G|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding||c.*2395T>C|||||994|,G|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding||c.*2350T>C|||||998|,G|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000463287|retained_intron||n.*786T>C|||||1370|,G|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000496409|retained_intron||n.*859T>C|||||3036| 22 38506553 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding|1/14|c.-21C>T|||||21|,A|5_prime_UTR_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000332536|protein_coding|1/8|c.-21C>T|||||21|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding||c.*2605C>T|||||949|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding||c.*2395C>T|||||950|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding||c.*2350C>T|||||954|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000463287|retained_intron||n.*786C>T|||||1326|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000496409|retained_intron||n.*859C>T|||||2992| 22 38508172 . G C . . ANN=C|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|17/17|c.2417C>G|p.Pro806Arg|2601/3271|2417/2421|806/806||,C|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|16/16|c.2255C>G|p.Pro752Arg|2391/3060|2255/2259|752/752||,C|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|16/16|c.2255C>G|p.Pro752Arg|2346/3011|2255/2259|752/752||,C|upstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding||c.-146C>G|||||1495|,C|upstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000332536|protein_coding||c.-145C>G|||||1496|,C|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000496409|retained_intron||n.*859C>G|||||1373|,C|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000454670|nonsense_mediated_decay||n.*505C>G|||||3391|,C|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay||n.*682C>G|||||3929|,C|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000463287|retained_intron|2/2|n.493C>G|||||| 22 38508249 . G A . . ANN=A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|17/17|c.2340C>T|p.Asn780Asn|2524/3271|2340/2421|780/806||,A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|16/16|c.2178C>T|p.Asn726Asn|2314/3060|2178/2259|726/752||,A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|16/16|c.2178C>T|p.Asn726Asn|2269/3011|2178/2259|726/752||,A|upstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding||c.-146C>T|||||1572|,A|upstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000332536|protein_coding||c.-145C>T|||||1573|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000496409|retained_intron||n.*859C>T|||||1296|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000454670|nonsense_mediated_decay||n.*505C>T|||||3314|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay||n.*682C>T|||||3852|,A|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000463287|retained_intron|2/2|n.416C>T|||||| 22 38508468 . C A,G,T . . ANN=A|sequence_feature|LOW|PLA2G6|ENSG00000184381|region_of_interest:Calmodulin-binding|ENST00000332509|protein_coding|17/17|c.2276+43G>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|region_of_interest:Calmodulin-binding|ENST00000332509|protein_coding|16/17|c.2276+43G>T||||||,G|sequence_feature|LOW|PLA2G6|ENSG00000184381|region_of_interest:Calmodulin-binding|ENST00000332509|protein_coding|17/17|c.2276+43G>C||||||,G|sequence_feature|LOW|PLA2G6|ENSG00000184381|region_of_interest:Calmodulin-binding|ENST00000332509|protein_coding|16/17|c.2276+43G>C||||||,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|region_of_interest:Calmodulin-binding|ENST00000332509|protein_coding|17/17|c.2276+43G>A||||||,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|region_of_interest:Calmodulin-binding|ENST00000332509|protein_coding|16/17|c.2276+43G>A||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|region_of_interest:Calmodulin-binding|ENST00000402064|protein_coding|16/16|c.2114+43G>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|region_of_interest:Calmodulin-binding|ENST00000402064|protein_coding|15/16|c.2114+43G>T||||||,G|sequence_feature|LOW|PLA2G6|ENSG00000184381|region_of_interest:Calmodulin-binding|ENST00000402064|protein_coding|16/16|c.2114+43G>C||||||,G|sequence_feature|LOW|PLA2G6|ENSG00000184381|region_of_interest:Calmodulin-binding|ENST00000402064|protein_coding|15/16|c.2114+43G>C||||||,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|region_of_interest:Calmodulin-binding|ENST00000402064|protein_coding|16/16|c.2114+43G>A||||||,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|region_of_interest:Calmodulin-binding|ENST00000402064|protein_coding|15/16|c.2114+43G>A||||||,A|upstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding||c.-146G>T|||||1791|,G|upstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding||c.-146G>C|||||1791|,T|upstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding||c.-146G>A|||||1791|,A|upstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000332536|protein_coding||c.-145G>T|||||1792|,G|upstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000332536|protein_coding||c.-145G>C|||||1792|,T|upstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000332536|protein_coding||c.-145G>A|||||1792|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000496409|retained_intron||n.*859G>T|||||1077|,G|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000496409|retained_intron||n.*859G>C|||||1077|,T|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000496409|retained_intron||n.*859G>A|||||1077|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000454670|nonsense_mediated_decay||n.*505G>T|||||3095|,G|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000454670|nonsense_mediated_decay||n.*505G>C|||||3095|,T|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000454670|nonsense_mediated_decay||n.*505G>A|||||3095|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay||n.*682G>T|||||3633|,G|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay||n.*682G>C|||||3633|,T|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay||n.*682G>A|||||3633|,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|16/16|c.2276+43G>T||||||,G|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|16/16|c.2276+43G>C||||||,T|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|16/16|c.2276+43G>A||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|15/15|c.2114+43G>T||||||,G|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|15/15|c.2114+43G>C||||||,T|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|15/15|c.2114+43G>A||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|15/15|c.2114+43G>T||||||,G|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|15/15|c.2114+43G>C||||||,T|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|15/15|c.2114+43G>A||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000463287|retained_intron|1/1|n.352+43G>T||||||,G|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000463287|retained_intron|1/1|n.352+43G>C||||||,T|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000463287|retained_intron|1/1|n.352+43G>A|||||| 22 38508625 . C G . . ANN=G|upstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding||c.-146G>C|||||1948|,G|upstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000332536|protein_coding||c.-145G>C|||||1949|,G|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000496409|retained_intron||n.*859G>C|||||920|,G|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000454670|nonsense_mediated_decay||n.*505G>C|||||2938|,G|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay||n.*682G>C|||||3476|,G|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|15/16|c.2203-41G>C||||||,G|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|14/15|c.2041-41G>C||||||,G|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|14/15|c.2041-41G>C||||||,G|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000463287|retained_intron|1/2|n.238G>C|||||| 22 38509647 . C G . . ANN=G|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|15/17|c.2049G>C|p.Lys683Asn|2233/3271|2049/2421|683/806||,G|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|14/16|c.1887G>C|p.Lys629Asn|2023/3060|1887/2259|629/752||,G|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|14/16|c.1887G>C|p.Lys629Asn|1978/3011|1887/2259|629/752||,G|sequence_feature|LOW|PLA2G6|ENSG00000184381|region_of_interest:Calmodulin-binding|ENST00000332509|protein_coding|14/17|c.2049G>C||||||,G|sequence_feature|LOW|PLA2G6|ENSG00000184381|region_of_interest:Calmodulin-binding|ENST00000332509|protein_coding|15/17|c.2049G>C||||||,G|sequence_feature|LOW|PLA2G6|ENSG00000184381|region_of_interest:Calmodulin-binding|ENST00000402064|protein_coding|13/16|c.1887G>C||||||,G|sequence_feature|LOW|PLA2G6|ENSG00000184381|region_of_interest:Calmodulin-binding|ENST00000402064|protein_coding|14/16|c.1887G>C||||||,G|upstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding||c.-146G>C|||||2970|,G|upstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000332536|protein_coding||c.-145G>C|||||2971|,G|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000463287|retained_intron||n.-1G>C|||||785|,G|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000454670|nonsense_mediated_decay||n.*505G>C|||||1916|,G|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay||n.*682G>C|||||2454|,G|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000496409|retained_intron|4/4|n.757G>C|||||| 22 38509668 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|14/16|c.2035-7C>T||||||,A|splice_region_variant&intron_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|13/15|c.1873-7C>T||||||,A|splice_region_variant&intron_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|13/15|c.1873-7C>T||||||,A|splice_region_variant&intron_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000496409|retained_intron|3/3|n.743-7C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|region_of_interest:Calmodulin-binding|ENST00000332509|protein_coding|14/17|c.2035-7C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|region_of_interest:Calmodulin-binding|ENST00000332509|protein_coding|15/17|c.2035-7C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|region_of_interest:Calmodulin-binding|ENST00000402064|protein_coding|13/16|c.1873-7C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|region_of_interest:Calmodulin-binding|ENST00000402064|protein_coding|14/16|c.1873-7C>T||||||,A|upstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding||c.-146C>T|||||2991|,A|upstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000332536|protein_coding||c.-145C>T|||||2992|,A|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000463287|retained_intron||n.-1C>T|||||806|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000454670|nonsense_mediated_decay||n.*505C>T|||||1895|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay||n.*682C>T|||||2433| 22 38511525 . G A . . ANN=A|sequence_feature|LOW|PLA2G6|ENSG00000184381|region_of_interest:Calmodulin-binding|ENST00000332509|protein_coding|14/17|c.2034+9C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|region_of_interest:Calmodulin-binding|ENST00000332509|protein_coding|15/17|c.2034+9C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|region_of_interest:Calmodulin-binding|ENST00000402064|protein_coding|13/16|c.1872+9C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|region_of_interest:Calmodulin-binding|ENST00000402064|protein_coding|14/16|c.1872+9C>T||||||,A|upstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding||c.-146C>T|||||4848|,A|upstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000332536|protein_coding||c.-145C>T|||||4849|,A|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000463287|retained_intron||n.-1C>T|||||2663|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000454670|nonsense_mediated_decay||n.*505C>T|||||38|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay||n.*682C>T|||||576|,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|14/16|c.2034+9C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|13/15|c.1872+9C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|13/15|c.1872+9C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000496409|retained_intron|3/3|n.742+9C>T|||||| 22 38511570 . G A . . ANN=A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|14/17|c.1998C>T|p.Thr666Thr|2182/3271|1998/2421|666/806||,A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|13/16|c.1836C>T|p.Thr612Thr|1972/3060|1836/2259|612/752||,A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|13/16|c.1836C>T|p.Thr612Thr|1927/3011|1836/2259|612/752||,A|3_prime_UTR_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000454670|nonsense_mediated_decay|6/6|n.*229C>T|||||622|,A|upstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding||c.-146C>T|||||4893|,A|upstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000332536|protein_coding||c.-145C>T|||||4894|,A|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000463287|retained_intron||n.-1C>T|||||2708|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay||n.*682C>T|||||531|,A|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000496409|retained_intron|3/4|n.706C>T||||||,A|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000454670|nonsense_mediated_decay|6/6|n.*229C>T|||||| 22 38511591 . G A . . ANN=A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|14/17|c.1977C>T|p.Asn659Asn|2161/3271|1977/2421|659/806||,A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|13/16|c.1815C>T|p.Asn605Asn|1951/3060|1815/2259|605/752||,A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|13/16|c.1815C>T|p.Asn605Asn|1906/3011|1815/2259|605/752||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000332509|protein_coding|11/17|c.1977C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000332509|protein_coding|13/17|c.1977C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000332509|protein_coding|14/17|c.1977C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000332509|protein_coding|12/17|c.1977C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000402064|protein_coding|10/16|c.1815C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000402064|protein_coding|12/16|c.1815C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000402064|protein_coding|13/16|c.1815C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000402064|protein_coding|11/16|c.1815C>T||||||,A|3_prime_UTR_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000454670|nonsense_mediated_decay|6/6|n.*208C>T|||||601|,A|upstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding||c.-146C>T|||||4914|,A|upstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000332536|protein_coding||c.-145C>T|||||4915|,A|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000463287|retained_intron||n.-1C>T|||||2729|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay||n.*682C>T|||||510|,A|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000496409|retained_intron|3/4|n.685C>T||||||,A|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000454670|nonsense_mediated_decay|6/6|n.*208C>T|||||| 22 38511690 . TA T . . ANN=|splice_region_variant&intron_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|13/16|c.1880-3delT||||||,|splice_region_variant&intron_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|12/15|c.1718-3delT||||||,|splice_region_variant&intron_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|12/15|c.1718-3delT||||||,|splice_region_variant&intron_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000454670|nonsense_mediated_decay|5/5|n.*111-3delT||||||,|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000332509|protein_coding|11/17|c.1880-3delT||||||,|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000332509|protein_coding|13/17|c.1880-3delT||||||,|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000332509|protein_coding|14/17|c.1880-3delT||||||,|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000332509|protein_coding|12/17|c.1880-3delT||||||,|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000402064|protein_coding|10/16|c.1718-3delT||||||,|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000402064|protein_coding|12/16|c.1718-3delT||||||,|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000402064|protein_coding|13/16|c.1718-3delT||||||,|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000402064|protein_coding|11/16|c.1718-3delT||||||,|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000463287|retained_intron||n.-1delT|||||2829|,|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay||n.*682delT|||||410|,|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000496409|retained_intron|3/4|n.585delT|||||| 22 38511696 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|13/16|c.1880-8G>A||||||,T|splice_region_variant&intron_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|12/15|c.1718-8G>A||||||,T|splice_region_variant&intron_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|12/15|c.1718-8G>A||||||,T|splice_region_variant&intron_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000454670|nonsense_mediated_decay|5/5|n.*111-8G>A||||||,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000332509|protein_coding|11/17|c.1880-8G>A||||||,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000332509|protein_coding|13/17|c.1880-8G>A||||||,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000332509|protein_coding|14/17|c.1880-8G>A||||||,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000332509|protein_coding|12/17|c.1880-8G>A||||||,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000402064|protein_coding|10/16|c.1718-8G>A||||||,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000402064|protein_coding|12/16|c.1718-8G>A||||||,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000402064|protein_coding|13/16|c.1718-8G>A||||||,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000402064|protein_coding|11/16|c.1718-8G>A||||||,T|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000463287|retained_intron||n.-1G>A|||||2834|,T|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay||n.*682G>A|||||405|,T|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000496409|retained_intron|3/4|n.580G>A|||||| 22 38512244 . G A . . ANN=A|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000332509|protein_coding|11/17|c.1743-26C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000332509|protein_coding|13/17|c.1743-26C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000332509|protein_coding|14/17|c.1743-26C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000332509|protein_coding|12/17|c.1743-26C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000402064|protein_coding|10/16|c.1581-26C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000402064|protein_coding|12/16|c.1581-26C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000402064|protein_coding|13/16|c.1581-26C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000402064|protein_coding|11/16|c.1581-26C>T||||||,A|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000463287|retained_intron||n.-1C>T|||||3382|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000491986|retained_intron||n.*753C>T|||||4522|,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|12/16|c.1743-26C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|11/15|c.1581-26C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|11/15|c.1581-26C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000496409|retained_intron|1/3|n.283-26C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000454670|nonsense_mediated_decay|4/5|n.478-26C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay|9/9|n.*348-26C>T|||||| 22 38516743 . G A . . ANN=A|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000332509|protein_coding|11/17|c.1742+23C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000332509|protein_coding|13/17|c.1742+23C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000332509|protein_coding|14/17|c.1742+23C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000332509|protein_coding|12/17|c.1742+23C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000402064|protein_coding|10/16|c.1580+23C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000402064|protein_coding|12/16|c.1580+23C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000402064|protein_coding|13/16|c.1580+23C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000402064|protein_coding|11/16|c.1580+23C>T||||||,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000491986|retained_intron||n.*753C>T|||||23|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000490473|processed_transcript||n.*601C>T|||||2468|,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|12/16|c.1742+23C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|11/15|c.1580+23C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|11/15|c.1580+23C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000496409|retained_intron|1/3|n.282+23C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000454670|nonsense_mediated_decay|3/5|n.386+23C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay|9/9|n.*347+23C>T|||||| 22 38516753 . C A . . ANN=A|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000332509|protein_coding|11/17|c.1742+13G>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000332509|protein_coding|13/17|c.1742+13G>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000332509|protein_coding|14/17|c.1742+13G>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000332509|protein_coding|12/17|c.1742+13G>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000402064|protein_coding|10/16|c.1580+13G>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000402064|protein_coding|12/16|c.1580+13G>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000402064|protein_coding|13/16|c.1580+13G>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000402064|protein_coding|11/16|c.1580+13G>T||||||,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000491986|retained_intron||n.*753G>T|||||13|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000490473|processed_transcript||n.*601G>T|||||2458|,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|12/16|c.1742+13G>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|11/15|c.1580+13G>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|11/15|c.1580+13G>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000496409|retained_intron|1/3|n.282+13G>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000454670|nonsense_mediated_decay|3/5|n.386+13G>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay|9/9|n.*347+13G>T|||||| 22 38516754 . G A . . ANN=A|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000332509|protein_coding|11/17|c.1742+12C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000332509|protein_coding|13/17|c.1742+12C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000332509|protein_coding|14/17|c.1742+12C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000332509|protein_coding|12/17|c.1742+12C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000402064|protein_coding|10/16|c.1580+12C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000402064|protein_coding|12/16|c.1580+12C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000402064|protein_coding|13/16|c.1580+12C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000402064|protein_coding|11/16|c.1580+12C>T||||||,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000491986|retained_intron||n.*753C>T|||||12|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000490473|processed_transcript||n.*601C>T|||||2457|,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|12/16|c.1742+12C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|11/15|c.1580+12C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|11/15|c.1580+12C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000496409|retained_intron|1/3|n.282+12C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000454670|nonsense_mediated_decay|3/5|n.386+12C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay|9/9|n.*347+12C>T|||||| 22 38516783 . C T . . ANN=T|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|12/17|c.1725G>A|p.Thr575Thr|1909/3271|1725/2421|575/806||,T|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|11/16|c.1563G>A|p.Thr521Thr|1699/3060|1563/2259|521/752||,T|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|11/16|c.1563G>A|p.Thr521Thr|1654/3011|1563/2259|521/752||,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000332509|protein_coding|11/17|c.1725G>A||||||,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000332509|protein_coding|13/17|c.1725G>A||||||,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000332509|protein_coding|14/17|c.1725G>A||||||,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000332509|protein_coding|12/17|c.1725G>A||||||,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000402064|protein_coding|10/16|c.1563G>A||||||,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000402064|protein_coding|12/16|c.1563G>A||||||,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000402064|protein_coding|13/16|c.1563G>A||||||,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000402064|protein_coding|11/16|c.1563G>A||||||,T|3_prime_UTR_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay|9/10|n.*330G>A|||||4895|,T|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000490473|processed_transcript||n.*601G>A|||||2428|,T|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000496409|retained_intron|1/4|n.265G>A||||||,T|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000454670|nonsense_mediated_decay|3/6|n.369G>A||||||,T|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay|9/10|n.*330G>A||||||,T|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000491986|retained_intron|4/4|n.736G>A|||||| 22 38516893 . C T . . ANN=T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|12/17|c.1615G>A|p.Gly539Ser|1799/3271|1615/2421|539/806||,T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|11/16|c.1453G>A|p.Gly485Ser|1589/3060|1453/2259|485/752||,T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|11/16|c.1453G>A|p.Gly485Ser|1544/3011|1453/2259|485/752||,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000332509|protein_coding|11/17|c.1615G>A||||||,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000332509|protein_coding|13/17|c.1615G>A||||||,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000332509|protein_coding|14/17|c.1615G>A||||||,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000332509|protein_coding|12/17|c.1615G>A||||||,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000402064|protein_coding|10/16|c.1453G>A||||||,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000402064|protein_coding|12/16|c.1453G>A||||||,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000402064|protein_coding|13/16|c.1453G>A||||||,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000402064|protein_coding|11/16|c.1453G>A||||||,T|3_prime_UTR_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay|9/10|n.*220G>A|||||4785|,T|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000490473|processed_transcript||n.*601G>A|||||2318|,T|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000496409|retained_intron|1/4|n.155G>A||||||,T|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000454670|nonsense_mediated_decay|3/6|n.259G>A||||||,T|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay|9/10|n.*220G>A||||||,T|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000491986|retained_intron|4/4|n.626G>A|||||| 22 38516900 . G A . . ANN=A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|12/17|c.1608C>T|p.Tyr536Tyr|1792/3271|1608/2421|536/806||,A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|11/16|c.1446C>T|p.Tyr482Tyr|1582/3060|1446/2259|482/752||,A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|11/16|c.1446C>T|p.Tyr482Tyr|1537/3011|1446/2259|482/752||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000332509|protein_coding|11/17|c.1608C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000332509|protein_coding|13/17|c.1608C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000332509|protein_coding|14/17|c.1608C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000332509|protein_coding|12/17|c.1608C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000402064|protein_coding|10/16|c.1446C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000402064|protein_coding|12/16|c.1446C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000402064|protein_coding|13/16|c.1446C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000402064|protein_coding|11/16|c.1446C>T||||||,A|3_prime_UTR_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay|9/10|n.*213C>T|||||4778|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000490473|processed_transcript||n.*601C>T|||||2311|,A|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000496409|retained_intron|1/4|n.148C>T||||||,A|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000454670|nonsense_mediated_decay|3/6|n.252C>T||||||,A|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay|9/10|n.*213C>T||||||,A|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000491986|retained_intron|4/4|n.619C>T|||||| 22 38516952 . C T . . ANN=T|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000332509|protein_coding|11/17|c.1592-36G>A||||||,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000332509|protein_coding|13/17|c.1592-36G>A||||||,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000332509|protein_coding|14/17|c.1592-36G>A||||||,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000332509|protein_coding|12/17|c.1592-36G>A||||||,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000402064|protein_coding|10/16|c.1430-36G>A||||||,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000402064|protein_coding|12/16|c.1430-36G>A||||||,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000402064|protein_coding|13/16|c.1430-36G>A||||||,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000402064|protein_coding|11/16|c.1430-36G>A||||||,T|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000490473|processed_transcript||n.*601G>A|||||2259|,T|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|11/16|c.1592-36G>A||||||,T|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|10/15|c.1430-36G>A||||||,T|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|10/15|c.1430-36G>A||||||,T|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000454670|nonsense_mediated_decay|2/5|n.236-36G>A||||||,T|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay|8/9|n.*197-36G>A||||||,T|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000491986|retained_intron|3/3|n.603-36G>A||||||,T|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000496409|retained_intron|1/4|n.96G>A|||||| 22 38519094 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|11/16|c.1591+8C>T||||||,A|splice_region_variant&intron_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|10/15|c.1429+8C>T||||||,A|splice_region_variant&intron_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|10/15|c.1429+8C>T||||||,A|splice_region_variant&intron_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000454670|nonsense_mediated_decay|2/5|n.235+8C>T||||||,A|splice_region_variant&intron_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay|8/9|n.*196+8C>T||||||,A|splice_region_variant&intron_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000491986|retained_intron|3/3|n.602+8C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000332509|protein_coding|11/17|c.1591+8C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000332509|protein_coding|13/17|c.1591+8C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000332509|protein_coding|14/17|c.1591+8C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000332509|protein_coding|12/17|c.1591+8C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000402064|protein_coding|10/16|c.1429+8C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000402064|protein_coding|12/16|c.1429+8C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000402064|protein_coding|13/16|c.1429+8C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000402064|protein_coding|11/16|c.1429+8C>T||||||,A|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000496409|retained_intron||n.-1C>T|||||2047|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000490473|processed_transcript||n.*601C>T|||||117|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000471636|retained_intron||n.*569C>T|||||3284|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452794|protein_coding||c.*374C>T|||||3909|WARNING_TRANSCRIPT_NO_START_CODON 22 38522344 . T C . . ANN=C|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000471636|retained_intron||n.*569A>G|||||34|,C|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452794|protein_coding||c.*374A>G|||||659|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000480154|retained_intron||n.*323A>G|||||1824|,C|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000427114|protein_coding||c.*688A>G|||||2006|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000427453|protein_coding||c.*473A>G|||||3181|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452542|protein_coding||c.*591A>G|||||3204|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|10/16|c.1427+34A>G||||||,C|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|9/15|c.1265+34A>G||||||,C|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|9/15|c.1265+34A>G||||||,C|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000454670|nonsense_mediated_decay|1/5|n.71+34A>G||||||,C|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay|6/9|n.660+34A>G||||||,C|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000491986|retained_intron|1/3|n.385+34A>G||||||,C|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000490473|processed_transcript|2/2|n.546+34A>G|||||| 22 38522389 . G A . . ANN=A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|10/17|c.1416C>T|p.Asp472Asp|1600/3271|1416/2421|472/806||,A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|9/16|c.1254C>T|p.Asp418Asp|1390/3060|1254/2259|418/752||,A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|9/16|c.1254C>T|p.Asp418Asp|1345/3011|1254/2259|418/752||,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452794|protein_coding||c.*374C>T|||||614|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000480154|retained_intron||n.*323C>T|||||1779|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000427114|protein_coding||c.*688C>T|||||1961|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000427453|protein_coding||c.*473C>T|||||3136|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452542|protein_coding||c.*591C>T|||||3159|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000454670|nonsense_mediated_decay|1/6|n.60C>T||||||,A|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay|6/10|n.649C>T||||||,A|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000491986|retained_intron|1/4|n.374C>T||||||,A|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000490473|processed_transcript|2/3|n.535C>T||||||,A|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000471636|retained_intron|5/5|n.558C>T|||||| 22 38522424 . G A . . ANN=A|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|10/17|c.1381C>T|p.Arg461Trp|1565/3271|1381/2421|461/806||,A|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|9/16|c.1219C>T|p.Arg407Trp|1355/3060|1219/2259|407/752||,A|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|9/16|c.1219C>T|p.Arg407Trp|1310/3011|1219/2259|407/752||,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452794|protein_coding||c.*374C>T|||||579|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000480154|retained_intron||n.*323C>T|||||1744|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000427114|protein_coding||c.*688C>T|||||1926|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000427453|protein_coding||c.*473C>T|||||3101|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452542|protein_coding||c.*591C>T|||||3124|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000454670|nonsense_mediated_decay|1/6|n.25C>T||||||,A|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay|6/10|n.614C>T||||||,A|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000491986|retained_intron|1/4|n.339C>T||||||,A|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000490473|processed_transcript|2/3|n.500C>T||||||,A|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000471636|retained_intron|5/5|n.523C>T|||||| 22 38524228 . G A . . ANN=A|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000454670|nonsense_mediated_decay||n.-2C>T|||||1779|,A|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000491986|retained_intron||n.-1C>T|||||1466|,A|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000490473|processed_transcript||n.-1C>T|||||993|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000427114|protein_coding||c.*688C>T|||||122|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000427453|protein_coding||c.*473C>T|||||1297|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452542|protein_coding||c.*591C>T|||||1320|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|9/16|c.1348+48C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|8/15|c.1186+1233C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|8/15|c.1186+1233C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay|4/9|n.529+48C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000471636|retained_intron|4/4|n.413-1694C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452794|protein_coding|3/3|c.316+48C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000480154|retained_intron|2/2|n.263C>T|||||| 22 38524260 . G A . . ANN=A|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000454670|nonsense_mediated_decay||n.-2C>T|||||1811|,A|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000491986|retained_intron||n.-1C>T|||||1498|,A|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000490473|processed_transcript||n.-1C>T|||||1025|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000427114|protein_coding||c.*688C>T|||||90|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000427453|protein_coding||c.*473C>T|||||1265|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452542|protein_coding||c.*591C>T|||||1288|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|9/16|c.1348+16C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|8/15|c.1186+1201C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|8/15|c.1186+1201C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay|4/9|n.529+16C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000471636|retained_intron|4/4|n.413-1726C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452794|protein_coding|3/3|c.316+16C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000480154|retained_intron|2/2|n.231C>T|||||| 22 38524337 . C T . . ANN=T|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|9/17|c.1287G>A|p.Ala429Ala|1471/3271|1287/2421|429/806||,T|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000452794|protein_coding|3/4|c.255G>A|p.Ala85Ala|257/781|255/372|85/123||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000454670|nonsense_mediated_decay||n.-2G>A|||||1888|,T|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000491986|retained_intron||n.-1G>A|||||1575|,T|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000490473|processed_transcript||n.-1G>A|||||1102|,T|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000427114|protein_coding||c.*688G>A|||||13|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000427453|protein_coding||c.*473G>A|||||1188|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452542|protein_coding||c.*591G>A|||||1211|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|8/15|c.1186+1124G>A||||||,T|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|8/15|c.1186+1124G>A||||||,T|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000471636|retained_intron|4/4|n.413-1803G>A||||||,T|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay|4/10|n.468G>A||||||,T|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000480154|retained_intron|2/2|n.154G>A|||||| 22 38524338 . G A . . ANN=A|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|9/17|c.1286C>T|p.Ala429Val|1470/3271|1286/2421|429/806||,A|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000452794|protein_coding|3/4|c.254C>T|p.Ala85Val|256/781|254/372|85/123||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000454670|nonsense_mediated_decay||n.-2C>T|||||1889|,A|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000491986|retained_intron||n.-1C>T|||||1576|,A|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000490473|processed_transcript||n.-1C>T|||||1103|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000427114|protein_coding||c.*688C>T|||||12|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000427453|protein_coding||c.*473C>T|||||1187|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452542|protein_coding||c.*591C>T|||||1210|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|8/15|c.1186+1123C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|8/15|c.1186+1123C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000471636|retained_intron|4/4|n.413-1804C>T||||||,A|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay|4/10|n.467C>T||||||,A|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000480154|retained_intron|2/2|n.153C>T|||||| 22 38524445 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|8/16|c.1187-8A>G||||||,C|splice_region_variant&intron_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay|3/9|n.368-8A>G||||||,C|splice_region_variant&intron_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000452794|protein_coding|2/3|c.155-8A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|splice_region_variant&intron_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000480154|retained_intron|1/1|n.54-8A>G||||||,C|splice_region_variant&intron_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000427114|protein_coding|5/5|c.599-8A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000454670|nonsense_mediated_decay||n.-2A>G|||||1996|,C|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000491986|retained_intron||n.-1A>G|||||1683|,C|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000490473|processed_transcript||n.-1A>G|||||1210|,C|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000427453|protein_coding||c.*473A>G|||||1080|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452542|protein_coding||c.*591A>G|||||1103|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|8/15|c.1186+1016A>G||||||,C|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|8/15|c.1186+1016A>G||||||,C|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000471636|retained_intron|4/4|n.413-1911A>G|||||| 22 38525561 . G A . . ANN=A|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000427453|protein_coding|5/5|c.461C>T|p.Thr154Met|463/499|461/471|154/156||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|8/17|c.1086C>T|p.Asn362Asn|1270/3271|1086/2421|362/806||,A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|8/16|c.1086C>T|p.Asn362Asn|1222/3060|1086/2259|362/752||,A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|8/16|c.1086C>T|p.Asn362Asn|1177/3011|1086/2259|362/752||,A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000452794|protein_coding|2/4|c.54C>T|p.Asn18Asn|56/781|54/372|18/123||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000427114|protein_coding|5/6|c.498C>T|p.Asn166Asn|500/688|498/686|166/227||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000452542|protein_coding|5/5|c.576C>T|p.Asn192Asn|578/591|576/589|192/195||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_7|ENST00000332509|protein_coding|8/17|c.1086C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_7|ENST00000332509|protein_coding|7/17|c.1086C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_7|ENST00000402064|protein_coding|8/16|c.1086C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_7|ENST00000402064|protein_coding|7/16|c.1086C>T||||||,A|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000454670|nonsense_mediated_decay||n.-2C>T|||||3112|,A|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000491986|retained_intron||n.-1C>T|||||2799|,A|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000490473|processed_transcript||n.-1C>T|||||2326|,A|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000480154|retained_intron||n.-1C>T|||||48|,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000471636|retained_intron|4/4|n.413-3027C>T||||||,A|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay|3/10|n.267C>T|||||| 22 38528888 . C T . . ANN=T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|7/17|c.1027G>A|p.Ala343Thr|1211/3271|1027/2421|343/806||,T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|7/16|c.1027G>A|p.Ala343Thr|1163/3060|1027/2259|343/752||,T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|7/16|c.1027G>A|p.Ala343Thr|1118/3011|1027/2259|343/752||,T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000427114|protein_coding|4/6|c.439G>A|p.Ala147Thr|441/688|439/686|147/227||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000427453|protein_coding|3/5|c.280G>A|p.Ala94Thr|282/499|280/471|94/156||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000452542|protein_coding|4/5|c.517G>A|p.Ala173Thr|519/591|517/589|173/195||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_6|ENST00000332509|protein_coding|7/17|c.1027G>A||||||,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_6|ENST00000402064|protein_coding|7/16|c.1027G>A||||||,T|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452794|protein_coding||c.-3G>A|||||4|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000480154|retained_intron||n.-1G>A|||||3375|,T|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000498338|protein_coding||c.*675G>A|||||2107|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000471636|retained_intron|4/4|n.413-6354G>A||||||,T|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay|2/10|n.208G>A|||||| 22 38528913 . T C . . ANN=C|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|7/17|c.1002A>G|p.Ile334Met|1186/3271|1002/2421|334/806||,C|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|7/16|c.1002A>G|p.Ile334Met|1138/3060|1002/2259|334/752||,C|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|7/16|c.1002A>G|p.Ile334Met|1093/3011|1002/2259|334/752||,C|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000427114|protein_coding|4/6|c.414A>G|p.Ile138Met|416/688|414/686|138/227||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000427453|protein_coding|3/5|c.255A>G|p.Ile85Met|257/499|255/471|85/156||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000452542|protein_coding|4/5|c.492A>G|p.Ile164Met|494/591|492/589|164/195||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_6|ENST00000332509|protein_coding|7/17|c.1002A>G||||||,C|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_6|ENST00000402064|protein_coding|7/16|c.1002A>G||||||,C|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452794|protein_coding||c.-3A>G|||||29|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000480154|retained_intron||n.-1A>G|||||3400|,C|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000498338|protein_coding||c.*675A>G|||||2082|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000471636|retained_intron|4/4|n.413-6379A>G||||||,C|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay|2/10|n.183A>G|||||| 22 38528943 . C T . . ANN=T|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|7/17|c.972G>A|p.Ala324Ala|1156/3271|972/2421|324/806||,T|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|7/16|c.972G>A|p.Ala324Ala|1108/3060|972/2259|324/752||,T|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|7/16|c.972G>A|p.Ala324Ala|1063/3011|972/2259|324/752||,T|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000427114|protein_coding|4/6|c.384G>A|p.Ala128Ala|386/688|384/686|128/227||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000427453|protein_coding|3/5|c.225G>A|p.Ala75Ala|227/499|225/471|75/156||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000452542|protein_coding|4/5|c.462G>A|p.Ala154Ala|464/591|462/589|154/195||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_6|ENST00000332509|protein_coding|7/17|c.972G>A||||||,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_6|ENST00000402064|protein_coding|7/16|c.972G>A||||||,T|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452794|protein_coding||c.-3G>A|||||59|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000480154|retained_intron||n.-1G>A|||||3430|,T|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000498338|protein_coding||c.*675G>A|||||2052|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000471636|retained_intron|4/4|n.413-6409G>A||||||,T|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay|2/10|n.153G>A|||||| 22 38528958 . C T . . ANN=T|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|7/17|c.957G>A|p.Thr319Thr|1141/3271|957/2421|319/806||,T|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|7/16|c.957G>A|p.Thr319Thr|1093/3060|957/2259|319/752||,T|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|7/16|c.957G>A|p.Thr319Thr|1048/3011|957/2259|319/752||,T|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000427114|protein_coding|4/6|c.369G>A|p.Thr123Thr|371/688|369/686|123/227||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000427453|protein_coding|3/5|c.210G>A|p.Thr70Thr|212/499|210/471|70/156||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000452542|protein_coding|4/5|c.447G>A|p.Thr149Thr|449/591|447/589|149/195||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_6|ENST00000332509|protein_coding|7/17|c.957G>A||||||,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_6|ENST00000402064|protein_coding|7/16|c.957G>A||||||,T|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452794|protein_coding||c.-3G>A|||||74|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000480154|retained_intron||n.-1G>A|||||3445|,T|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000498338|protein_coding||c.*675G>A|||||2037|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000471636|retained_intron|4/4|n.413-6424G>A||||||,T|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay|2/10|n.138G>A|||||| 22 38530948 . C T . . ANN=T|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_5|ENST00000332509|protein_coding|7/17|c.894+47G>A||||||,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_5|ENST00000332509|protein_coding|6/17|c.894+47G>A||||||,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_5|ENST00000402064|protein_coding|7/16|c.894+47G>A||||||,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_5|ENST00000402064|protein_coding|6/16|c.894+47G>A||||||,T|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452794|protein_coding||c.-3G>A|||||2064|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000498338|protein_coding||c.*675G>A|||||47|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|6/16|c.894+47G>A||||||,T|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|6/15|c.894+47G>A||||||,T|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|6/15|c.894+47G>A||||||,T|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay|1/9|n.75+47G>A||||||,T|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000471636|retained_intron|4/4|n.412+5193G>A||||||,T|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000427114|protein_coding|3/5|c.306+47G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000427453|protein_coding|2/4|c.147+47G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452542|protein_coding|3/4|c.384+47G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 38530955 . C T . . ANN=T|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_5|ENST00000332509|protein_coding|7/17|c.894+40G>A||||||,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_5|ENST00000332509|protein_coding|6/17|c.894+40G>A||||||,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_5|ENST00000402064|protein_coding|7/16|c.894+40G>A||||||,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_5|ENST00000402064|protein_coding|6/16|c.894+40G>A||||||,T|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452794|protein_coding||c.-3G>A|||||2071|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000498338|protein_coding||c.*675G>A|||||40|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|6/16|c.894+40G>A||||||,T|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|6/15|c.894+40G>A||||||,T|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|6/15|c.894+40G>A||||||,T|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay|1/9|n.75+40G>A||||||,T|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000471636|retained_intron|4/4|n.412+5186G>A||||||,T|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000427114|protein_coding|3/5|c.306+40G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000427453|protein_coding|2/4|c.147+40G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452542|protein_coding|3/4|c.384+40G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 38530956 . G A . . ANN=A|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_5|ENST00000332509|protein_coding|7/17|c.894+39C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_5|ENST00000332509|protein_coding|6/17|c.894+39C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_5|ENST00000402064|protein_coding|7/16|c.894+39C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_5|ENST00000402064|protein_coding|6/16|c.894+39C>T||||||,A|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452794|protein_coding||c.-3C>T|||||2072|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000498338|protein_coding||c.*675C>T|||||39|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|6/16|c.894+39C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|6/15|c.894+39C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|6/15|c.894+39C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay|1/9|n.75+39C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000471636|retained_intron|4/4|n.412+5185C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000427114|protein_coding|3/5|c.306+39C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000427453|protein_coding|2/4|c.147+39C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452542|protein_coding|3/4|c.384+39C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 38530970 . C T . . ANN=T|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_5|ENST00000332509|protein_coding|7/17|c.894+25G>A||||||,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_5|ENST00000332509|protein_coding|6/17|c.894+25G>A||||||,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_5|ENST00000402064|protein_coding|7/16|c.894+25G>A||||||,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_5|ENST00000402064|protein_coding|6/16|c.894+25G>A||||||,T|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452794|protein_coding||c.-3G>A|||||2086|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000498338|protein_coding||c.*675G>A|||||25|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|6/16|c.894+25G>A||||||,T|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|6/15|c.894+25G>A||||||,T|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|6/15|c.894+25G>A||||||,T|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay|1/9|n.75+25G>A||||||,T|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000471636|retained_intron|4/4|n.412+5171G>A||||||,T|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000427114|protein_coding|3/5|c.306+25G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000427453|protein_coding|2/4|c.147+25G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452542|protein_coding|3/4|c.384+25G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 38531036 . G A . . ANN=A|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|6/17|c.853C>T|p.Arg285Cys|1037/3271|853/2421|285/806||,A|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|6/16|c.853C>T|p.Arg285Cys|989/3060|853/2259|285/752||,A|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|6/16|c.853C>T|p.Arg285Cys|944/3011|853/2259|285/752||,A|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000427114|protein_coding|3/6|c.265C>T|p.Arg89Cys|267/688|265/686|89/227||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000427453|protein_coding|2/5|c.106C>T|p.Arg36Cys|108/499|106/471|36/156||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000452542|protein_coding|3/5|c.343C>T|p.Arg115Cys|345/591|343/589|115/195||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000498338|protein_coding|3/3|c.319C>T|p.Arg107Cys|634/675|319/360|107/119||WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452794|protein_coding||c.-3C>T|||||2152|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000471636|retained_intron|4/4|n.412+5105C>T||||||,A|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay|1/10|n.34C>T|||||| 22 38535943 . G A . . ANN=A|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_4|ENST00000332509|protein_coding|6/17|c.797+46C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_4|ENST00000332509|protein_coding|5/17|c.797+46C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_4|ENST00000402064|protein_coding|6/16|c.797+46C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_4|ENST00000402064|protein_coding|5/16|c.797+46C>T||||||,A|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay||n.-2C>T|||||4873|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000430886|protein_coding||c.*656C>T|||||129|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000479641|processed_transcript||n.*571C>T|||||198|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000436218|protein_coding||c.*548C>T|||||199|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000445591|processed_transcript||n.*534C>T|||||3293|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452972|processed_transcript||n.*524C>T|||||3301|,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|5/16|c.797+46C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|5/15|c.797+46C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|5/15|c.797+46C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000471636|retained_intron|4/4|n.412+198C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000427114|protein_coding|2/5|c.209+3169C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000427453|protein_coding|1/4|c.50+46C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452542|protein_coding|2/4|c.287+46C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000498338|protein_coding|2/2|c.263+46C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 38535946 . G A . . ANN=A|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_4|ENST00000332509|protein_coding|6/17|c.797+43C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_4|ENST00000332509|protein_coding|5/17|c.797+43C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_4|ENST00000402064|protein_coding|6/16|c.797+43C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_4|ENST00000402064|protein_coding|5/16|c.797+43C>T||||||,A|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay||n.-2C>T|||||4876|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000430886|protein_coding||c.*656C>T|||||126|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000479641|processed_transcript||n.*571C>T|||||195|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000436218|protein_coding||c.*548C>T|||||196|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000445591|processed_transcript||n.*534C>T|||||3290|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452972|processed_transcript||n.*524C>T|||||3298|,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|5/16|c.797+43C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|5/15|c.797+43C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|5/15|c.797+43C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000471636|retained_intron|4/4|n.412+195C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000427114|protein_coding|2/5|c.209+3166C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000427453|protein_coding|1/4|c.50+43C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452542|protein_coding|2/4|c.287+43C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000498338|protein_coding|2/2|c.263+43C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 38535954 . G A . . ANN=A|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_4|ENST00000332509|protein_coding|6/17|c.797+35C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_4|ENST00000332509|protein_coding|5/17|c.797+35C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_4|ENST00000402064|protein_coding|6/16|c.797+35C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_4|ENST00000402064|protein_coding|5/16|c.797+35C>T||||||,A|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay||n.-2C>T|||||4884|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000430886|protein_coding||c.*656C>T|||||118|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000479641|processed_transcript||n.*571C>T|||||187|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000436218|protein_coding||c.*548C>T|||||188|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000445591|processed_transcript||n.*534C>T|||||3282|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452972|processed_transcript||n.*524C>T|||||3290|,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|5/16|c.797+35C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|5/15|c.797+35C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|5/15|c.797+35C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000471636|retained_intron|4/4|n.412+187C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000427114|protein_coding|2/5|c.209+3158C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000427453|protein_coding|1/4|c.50+35C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452542|protein_coding|2/4|c.287+35C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000498338|protein_coding|2/2|c.263+35C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 38536013 . G A . . ANN=A|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|5/17|c.773C>T|p.Ser258Leu|957/3271|773/2421|258/806||,A|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|5/16|c.773C>T|p.Ser258Leu|909/3060|773/2259|258/752||,A|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|5/16|c.773C>T|p.Ser258Leu|864/3011|773/2259|258/752||,A|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000427453|protein_coding|1/5|c.26C>T|p.Ser9Leu|28/499|26/471|9/156||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000452542|protein_coding|2/5|c.263C>T|p.Ser88Leu|265/591|263/589|88/195||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000498338|protein_coding|2/3|c.239C>T|p.Ser80Leu|554/675|239/360|80/119||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_4|ENST00000332509|protein_coding|6/17|c.773C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_4|ENST00000332509|protein_coding|5/17|c.773C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_4|ENST00000402064|protein_coding|6/16|c.773C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_4|ENST00000402064|protein_coding|5/16|c.773C>T||||||,A|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay||n.-2C>T|||||4943|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000430886|protein_coding||c.*656C>T|||||59|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000479641|processed_transcript||n.*571C>T|||||128|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000436218|protein_coding||c.*548C>T|||||129|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000445591|processed_transcript||n.*534C>T|||||3223|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452972|processed_transcript||n.*524C>T|||||3231|,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000471636|retained_intron|4/4|n.412+128C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000427114|protein_coding|2/5|c.209+3099C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 38539084 . C A . . ANN=A|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_2|ENST00000332509|protein_coding|4/17|c.609+28G>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_2|ENST00000332509|protein_coding|5/17|c.609+28G>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_2|ENST00000402064|protein_coding|4/16|c.609+28G>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_2|ENST00000402064|protein_coding|5/16|c.609+28G>T||||||,A|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000427453|protein_coding||c.-3G>T|||||3044|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000445591|processed_transcript||n.*534G>T|||||152|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452972|processed_transcript||n.*524G>T|||||160|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000447598|protein_coding||c.*366G>T|||||2416|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000435484|protein_coding||c.*510G>T|||||2515|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000417303|protein_coding||c.*413G>T|||||2529|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000455341|protein_coding||c.*364G>T|||||2547|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000420435|processed_transcript||n.*539G>T|||||4291|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000426674|processed_transcript||n.*471G>T|||||4302|,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|4/16|c.609+28G>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|4/15|c.609+28G>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|4/15|c.609+28G>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000471636|retained_intron|3/4|n.376+2486G>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000427114|protein_coding|2/5|c.209+28G>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452542|protein_coding|1/4|c.99+37G>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000498338|protein_coding|1/2|c.75+28G>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000430886|protein_coding|3/3|c.393+28G>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000479641|processed_transcript|3/3|n.535+28G>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000436218|protein_coding|3/3|c.425+2361G>T|||||| 22 38539157 . G A . . ANN=A|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000427114|protein_coding|2/6|c.164C>T|p.Pro55Leu|166/688|164/686|55/227||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|4/17|c.564C>T|p.Thr188Thr|748/3271|564/2421|188/806||,A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|4/16|c.564C>T|p.Thr188Thr|700/3060|564/2259|188/752||,A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|4/16|c.564C>T|p.Thr188Thr|655/3011|564/2259|188/752||,A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000452542|protein_coding|1/5|c.63C>T|p.Thr21Thr|65/591|63/589|21/195||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000498338|protein_coding|1/3|c.30C>T|p.Thr10Thr|345/675|30/360|10/119||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000430886|protein_coding|3/4|c.348C>T|p.Thr116Thr|506/656|348/498|116/165||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_2|ENST00000332509|protein_coding|4/17|c.564C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_2|ENST00000332509|protein_coding|5/17|c.564C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_2|ENST00000402064|protein_coding|4/16|c.564C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_2|ENST00000402064|protein_coding|5/16|c.564C>T||||||,A|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000427453|protein_coding||c.-3C>T|||||3117|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000445591|processed_transcript||n.*534C>T|||||79|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452972|processed_transcript||n.*524C>T|||||87|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000447598|protein_coding||c.*366C>T|||||2343|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000435484|protein_coding||c.*510C>T|||||2442|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000417303|protein_coding||c.*413C>T|||||2456|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000455341|protein_coding||c.*364C>T|||||2474|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000420435|processed_transcript||n.*539C>T|||||4218|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000426674|processed_transcript||n.*471C>T|||||4229|,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000471636|retained_intron|3/4|n.376+2413C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000436218|protein_coding|3/3|c.425+2288C>T||||||,A|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000479641|processed_transcript|3/4|n.490C>T|||||| 22 38541409 . C T . . ANN=T|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452542|protein_coding||c.-3G>A|||||2188|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000498338|protein_coding||c.-316G>A|||||1908|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000447598|protein_coding||c.*366G>A|||||91|,T|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000435484|protein_coding||c.*510G>A|||||190|,T|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000417303|protein_coding||c.*413G>A|||||204|,T|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000455341|protein_coding||c.*364G>A|||||222|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000420435|processed_transcript||n.*539G>A|||||1966|,T|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000426674|processed_transcript||n.*471G>A|||||1977|,T|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|3/16|c.425+36G>A||||||,T|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|3/15|c.425+36G>A||||||,T|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|3/15|c.425+36G>A||||||,T|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000471636|retained_intron|3/4|n.376+161G>A||||||,T|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000427114|protein_coding|1/5|c.25+36G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000430886|protein_coding|2/3|c.210-2114G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000479641|processed_transcript|2/3|n.351+36G>A||||||,T|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000436218|protein_coding|3/3|c.425+36G>A||||||,T|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000445591|processed_transcript|2/2|n.474+36G>A||||||,T|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452972|processed_transcript|2/3|n.389+36G>A|||||| 22 38541463 . T C . . ANN=C|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|3/17|c.407A>G|p.His136Arg|591/3271|407/2421|136/806||,C|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|3/16|c.407A>G|p.His136Arg|543/3060|407/2259|136/752||,C|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|3/16|c.407A>G|p.His136Arg|498/3011|407/2259|136/752||,C|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000427114|protein_coding|1/6|c.7A>G|p.Ile3Val|9/688|7/686|3/227||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000436218|protein_coding|3/4|c.407A>G|p.His136Arg|499/552|407/456|136/151||,C|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452542|protein_coding||c.-3A>G|||||2242|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000498338|protein_coding||c.-316A>G|||||1962|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000447598|protein_coding||c.*366A>G|||||37|,C|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000435484|protein_coding||c.*510A>G|||||136|,C|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000417303|protein_coding||c.*413A>G|||||150|,C|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000455341|protein_coding||c.*364A>G|||||168|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000420435|processed_transcript||n.*539A>G|||||1912|,C|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000426674|processed_transcript||n.*471A>G|||||1923|,C|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000471636|retained_intron|3/4|n.376+107A>G||||||,C|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000430886|protein_coding|2/3|c.210-2168A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000479641|processed_transcript|2/4|n.333A>G||||||,C|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000445591|processed_transcript|2/3|n.456A>G||||||,C|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452972|processed_transcript|2/4|n.371A>G|||||| 22 38541545 . G C . . ANN=C|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|3/17|c.325C>G|p.His109Asp|509/3271|325/2421|109/806||,C|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|3/16|c.325C>G|p.His109Asp|461/3060|325/2259|109/752||,C|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|3/16|c.325C>G|p.His109Asp|416/3011|325/2259|109/752||,C|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000436218|protein_coding|3/4|c.325C>G|p.His109Asp|417/552|325/456|109/151||,C|3_prime_UTR_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000447598|protein_coding|4/4|c.*156C>G|||||2995|,C|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000427114|protein_coding||c.-3C>G|||||74|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452542|protein_coding||c.-3C>G|||||2324|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000498338|protein_coding||c.-316C>G|||||2044|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000435484|protein_coding||c.*510C>G|||||54|,C|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000417303|protein_coding||c.*413C>G|||||68|,C|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000455341|protein_coding||c.*364C>G|||||86|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000420435|processed_transcript||n.*539C>G|||||1830|,C|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000426674|processed_transcript||n.*471C>G|||||1841|,C|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000471636|retained_intron|3/4|n.376+25C>G||||||,C|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000430886|protein_coding|2/3|c.210-2250C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000479641|processed_transcript|2/4|n.251C>G||||||,C|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000445591|processed_transcript|2/3|n.374C>G||||||,C|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452972|processed_transcript|2/4|n.289C>G|||||| 22 38541604 . G T . . ANN=T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|3/17|c.266C>A|p.Ser89Tyr|450/3271|266/2421|89/806||,T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|3/16|c.266C>A|p.Ser89Tyr|402/3060|266/2259|89/752||,T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|3/16|c.266C>A|p.Ser89Tyr|357/3011|266/2259|89/752||,T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000436218|protein_coding|3/4|c.266C>A|p.Ser89Tyr|358/552|266/456|89/151||,T|3_prime_UTR_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000447598|protein_coding|4/4|c.*97C>A|||||2936|,T|3_prime_UTR_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000435484|protein_coding|4/4|c.*97C>A|||||2936|,T|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000427114|protein_coding||c.-3C>A|||||133|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452542|protein_coding||c.-3C>A|||||2383|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000498338|protein_coding||c.-316C>A|||||2103|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000417303|protein_coding||c.*413C>A|||||9|,T|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000455341|protein_coding||c.*364C>A|||||27|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000420435|processed_transcript||n.*539C>A|||||1771|,T|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000426674|processed_transcript||n.*471C>A|||||1782|,T|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000430886|protein_coding|2/3|c.210-2309C>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000471636|retained_intron|3/5|n.342C>A||||||,T|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000479641|processed_transcript|2/4|n.192C>A||||||,T|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000445591|processed_transcript|2/3|n.315C>A||||||,T|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452972|processed_transcript|2/4|n.230C>A|||||| 22 38541681 . A G . . ANN=G|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000427114|protein_coding||c.-3T>C|||||210|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452542|protein_coding||c.-3T>C|||||2460|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000498338|protein_coding||c.-316T>C|||||2180|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000420435|processed_transcript||n.*539T>C|||||1694|,G|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000426674|processed_transcript||n.*471T>C|||||1705|,G|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|2/16|c.210-21T>C||||||,G|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|2/15|c.210-21T>C||||||,G|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|2/15|c.210-21T>C||||||,G|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000471636|retained_intron|2/4|n.286-21T>C||||||,G|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000430886|protein_coding|2/3|c.210-2386T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000479641|processed_transcript|1/3|n.136-21T>C||||||,G|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000436218|protein_coding|2/3|c.210-21T>C||||||,G|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000445591|processed_transcript|1/2|n.259-21T>C||||||,G|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452972|processed_transcript|1/3|n.174-21T>C||||||,G|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000447598|protein_coding|3/3|c.*41-21T>C||||||,G|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000435484|protein_coding|3/3|c.*41-21T>C||||||,G|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000417303|protein_coding|3/3|c.*41-21T>C||||||,G|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000455341|protein_coding|2/2|c.210-21T>C||||||WARNING_TRANSCRIPT_INCOMPLETE 22 38541691 . G A . . ANN=A|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000427114|protein_coding||c.-3C>T|||||220|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452542|protein_coding||c.-3C>T|||||2470|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000498338|protein_coding||c.-316C>T|||||2190|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000420435|processed_transcript||n.*539C>T|||||1684|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000426674|processed_transcript||n.*471C>T|||||1695|,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|2/16|c.210-31C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|2/15|c.210-31C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|2/15|c.210-31C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000471636|retained_intron|2/4|n.286-31C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000430886|protein_coding|2/3|c.210-2396C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000479641|processed_transcript|1/3|n.136-31C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000436218|protein_coding|2/3|c.210-31C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000445591|processed_transcript|1/2|n.259-31C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452972|processed_transcript|1/3|n.174-31C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000447598|protein_coding|3/3|c.*41-31C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000435484|protein_coding|3/3|c.*41-31C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000417303|protein_coding|3/3|c.*41-31C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000455341|protein_coding|2/2|c.210-31C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 38565209 . G A . . ANN=A|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000479641|processed_transcript||n.-1C>T|||||1125|,A|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452972|processed_transcript||n.-1C>T|||||1112|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000594306|protein_coding||c.*595C>T|||||73|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|2/16|c.209+16C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|2/15|c.209+16C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|2/15|c.209+16C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000471636|retained_intron|2/4|n.285+16C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000430886|protein_coding|2/3|c.209+16C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000436218|protein_coding|2/3|c.209+16C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000447598|protein_coding|2/3|c.209+16C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000435484|protein_coding|2/3|c.209+16C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000417303|protein_coding|2/3|c.209+16C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000455341|protein_coding|2/2|c.209+16C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000420435|processed_transcript|2/3|n.300+16C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000426674|processed_transcript|2/2|n.374+16C>T|||||| 22 38565215 . C CA . . ANN=A|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000479641|processed_transcript||n.-1dupT|||||1132|,A|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452972|processed_transcript||n.-1dupT|||||1119|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000594306|protein_coding||c.*595dupT|||||66|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|2/16|c.209+9dupT||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|2/15|c.209+9dupT||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|2/15|c.209+9dupT||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000471636|retained_intron|2/4|n.285+9dupT||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000430886|protein_coding|2/3|c.209+9dupT||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000436218|protein_coding|2/3|c.209+9dupT||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000447598|protein_coding|2/3|c.209+9dupT||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000435484|protein_coding|2/3|c.209+9dupT||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000417303|protein_coding|2/3|c.209+9dupT||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000455341|protein_coding|2/2|c.209+9dupT||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000420435|processed_transcript|2/3|n.300+9dupT||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000426674|processed_transcript|2/2|n.374+9dupT|||||| 22 38565247 . T C . . ANN=C|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|2/17|c.187A>G|p.Arg63Gly|371/3271|187/2421|63/806||,C|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|2/16|c.187A>G|p.Arg63Gly|323/3060|187/2259|63/752||,C|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|2/16|c.187A>G|p.Arg63Gly|278/3011|187/2259|63/752||,C|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000430886|protein_coding|2/4|c.187A>G|p.Arg63Gly|345/656|187/498|63/165||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000436218|protein_coding|2/4|c.187A>G|p.Arg63Gly|279/552|187/456|63/151||,C|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000447598|protein_coding|2/4|c.187A>G|p.Arg63Gly|253/567|187/300|63/99||,C|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000435484|protein_coding|2/4|c.187A>G|p.Arg63Gly|397/612|187/300|63/99||,C|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000417303|protein_coding|2/4|c.187A>G|p.Arg63Gly|300/501|187/300|63/99||,C|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000455341|protein_coding|2/3|c.187A>G|p.Arg63Gly|312/364|187/239|63/78||WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000479641|processed_transcript||n.-1A>G|||||1163|,C|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452972|processed_transcript||n.-1A>G|||||1150|,C|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000594306|protein_coding||c.*595A>G|||||35|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000471636|retained_intron|2/5|n.263A>G||||||,C|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000420435|processed_transcript|2/4|n.278A>G||||||,C|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000426674|processed_transcript|2/3|n.352A>G|||||| 22 38565262 . C T . . ANN=T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|2/17|c.172G>A|p.Val58Ile|356/3271|172/2421|58/806||,T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|2/16|c.172G>A|p.Val58Ile|308/3060|172/2259|58/752||,T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|2/16|c.172G>A|p.Val58Ile|263/3011|172/2259|58/752||,T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000430886|protein_coding|2/4|c.172G>A|p.Val58Ile|330/656|172/498|58/165||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000436218|protein_coding|2/4|c.172G>A|p.Val58Ile|264/552|172/456|58/151||,T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000447598|protein_coding|2/4|c.172G>A|p.Val58Ile|238/567|172/300|58/99||,T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000435484|protein_coding|2/4|c.172G>A|p.Val58Ile|382/612|172/300|58/99||,T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000417303|protein_coding|2/4|c.172G>A|p.Val58Ile|285/501|172/300|58/99||,T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000455341|protein_coding|2/3|c.172G>A|p.Val58Ile|297/364|172/239|58/78||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000479641|processed_transcript||n.-1G>A|||||1178|,T|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452972|processed_transcript||n.-1G>A|||||1165|,T|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000594306|protein_coding||c.*595G>A|||||20|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000471636|retained_intron|2/5|n.248G>A||||||,T|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000420435|processed_transcript|2/4|n.263G>A||||||,T|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000426674|processed_transcript|2/3|n.337G>A|||||| 22 38565263 . G A . . ANN=A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|2/17|c.171C>T|p.Cys57Cys|355/3271|171/2421|57/806||,A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|2/16|c.171C>T|p.Cys57Cys|307/3060|171/2259|57/752||,A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|2/16|c.171C>T|p.Cys57Cys|262/3011|171/2259|57/752||,A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000430886|protein_coding|2/4|c.171C>T|p.Cys57Cys|329/656|171/498|57/165||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000436218|protein_coding|2/4|c.171C>T|p.Cys57Cys|263/552|171/456|57/151||,A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000447598|protein_coding|2/4|c.171C>T|p.Cys57Cys|237/567|171/300|57/99||,A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000435484|protein_coding|2/4|c.171C>T|p.Cys57Cys|381/612|171/300|57/99||,A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000417303|protein_coding|2/4|c.171C>T|p.Cys57Cys|284/501|171/300|57/99||,A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000455341|protein_coding|2/3|c.171C>T|p.Cys57Cys|296/364|171/239|57/78||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000479641|processed_transcript||n.-1C>T|||||1179|,A|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452972|processed_transcript||n.-1C>T|||||1166|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000594306|protein_coding||c.*595C>T|||||19|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000471636|retained_intron|2/5|n.247C>T||||||,A|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000420435|processed_transcript|2/4|n.262C>T||||||,A|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000426674|processed_transcript|2/3|n.336C>T|||||| 22 38565343 . C T . . ANN=T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|2/17|c.91G>A|p.Asp31Asn|275/3271|91/2421|31/806||,T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|2/16|c.91G>A|p.Asp31Asn|227/3060|91/2259|31/752||,T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|2/16|c.91G>A|p.Asp31Asn|182/3011|91/2259|31/752||,T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000430886|protein_coding|2/4|c.91G>A|p.Asp31Asn|249/656|91/498|31/165||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000436218|protein_coding|2/4|c.91G>A|p.Asp31Asn|183/552|91/456|31/151||,T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000447598|protein_coding|2/4|c.91G>A|p.Asp31Asn|157/567|91/300|31/99||,T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000435484|protein_coding|2/4|c.91G>A|p.Asp31Asn|301/612|91/300|31/99||,T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000417303|protein_coding|2/4|c.91G>A|p.Asp31Asn|204/501|91/300|31/99||,T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000455341|protein_coding|2/3|c.91G>A|p.Asp31Asn|216/364|91/239|31/78||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000594306|protein_coding|2/2|c.91G>A|p.Asp31Asn|534/595|91/152|31/49||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000479641|processed_transcript||n.-1G>A|||||1259|,T|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452972|processed_transcript||n.-1G>A|||||1246|,T|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000471636|retained_intron|2/5|n.167G>A||||||,T|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000420435|processed_transcript|2/4|n.182G>A||||||,T|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000426674|processed_transcript|2/3|n.256G>A|||||| 22 38565347 . C T . . ANN=T|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|2/17|c.87G>A|p.Val29Val|271/3271|87/2421|29/806||,T|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|2/16|c.87G>A|p.Val29Val|223/3060|87/2259|29/752||,T|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|2/16|c.87G>A|p.Val29Val|178/3011|87/2259|29/752||,T|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000430886|protein_coding|2/4|c.87G>A|p.Val29Val|245/656|87/498|29/165||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000436218|protein_coding|2/4|c.87G>A|p.Val29Val|179/552|87/456|29/151||,T|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000447598|protein_coding|2/4|c.87G>A|p.Val29Val|153/567|87/300|29/99||,T|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000435484|protein_coding|2/4|c.87G>A|p.Val29Val|297/612|87/300|29/99||,T|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000417303|protein_coding|2/4|c.87G>A|p.Val29Val|200/501|87/300|29/99||,T|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000455341|protein_coding|2/3|c.87G>A|p.Val29Val|212/364|87/239|29/78||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000594306|protein_coding|2/2|c.87G>A|p.Val29Val|530/595|87/152|29/49||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000479641|processed_transcript||n.-1G>A|||||1263|,T|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452972|processed_transcript||n.-1G>A|||||1250|,T|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000471636|retained_intron|2/5|n.163G>A||||||,T|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000420435|processed_transcript|2/4|n.178G>A||||||,T|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000426674|processed_transcript|2/3|n.252G>A|||||| 22 38565395 . G A . . ANN=A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|2/17|c.39C>T|p.Gly13Gly|223/3271|39/2421|13/806||,A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|2/16|c.39C>T|p.Gly13Gly|175/3060|39/2259|13/752||,A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|2/16|c.39C>T|p.Gly13Gly|130/3011|39/2259|13/752||,A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000430886|protein_coding|2/4|c.39C>T|p.Gly13Gly|197/656|39/498|13/165||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000436218|protein_coding|2/4|c.39C>T|p.Gly13Gly|131/552|39/456|13/151||,A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000447598|protein_coding|2/4|c.39C>T|p.Gly13Gly|105/567|39/300|13/99||,A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000435484|protein_coding|2/4|c.39C>T|p.Gly13Gly|249/612|39/300|13/99||,A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000417303|protein_coding|2/4|c.39C>T|p.Gly13Gly|152/501|39/300|13/99||,A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000455341|protein_coding|2/3|c.39C>T|p.Gly13Gly|164/364|39/239|13/78||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000594306|protein_coding|2/2|c.39C>T|p.Gly13Gly|482/595|39/152|13/49||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000479641|processed_transcript||n.-1C>T|||||1311|,A|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452972|processed_transcript||n.-1C>T|||||1298|,A|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000471636|retained_intron|2/5|n.115C>T||||||,A|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000420435|processed_transcript|2/4|n.130C>T||||||,A|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000426674|processed_transcript|2/3|n.204C>T|||||| 22 38565453 . G T . . ANN=T|5_prime_UTR_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|2/17|c.-20C>A|||||20|,T|5_prime_UTR_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|2/16|c.-20C>A|||||20|,T|5_prime_UTR_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|2/16|c.-20C>A|||||20|,T|5_prime_UTR_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000430886|protein_coding|2/4|c.-20C>A|||||20|WARNING_TRANSCRIPT_NO_STOP_CODON,T|5_prime_UTR_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000436218|protein_coding|2/4|c.-20C>A|||||20|,T|5_prime_UTR_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000447598|protein_coding|2/4|c.-20C>A|||||20|,T|5_prime_UTR_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000435484|protein_coding|2/4|c.-20C>A|||||20|,T|5_prime_UTR_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000417303|protein_coding|2/4|c.-20C>A|||||20|,T|5_prime_UTR_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000455341|protein_coding|2/3|c.-20C>A|||||20|WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000594306|protein_coding|2/2|c.-20C>A|||||20|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000479641|processed_transcript||n.-1C>A|||||1369|,T|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452972|processed_transcript||n.-1C>A|||||1356|,T|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000471636|retained_intron|2/5|n.57C>A||||||,T|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000420435|processed_transcript|2/4|n.72C>A||||||,T|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000426674|processed_transcript|2/3|n.146C>A|||||| 22 38565475 . C T . . ANN=T|splice_acceptor_variant&intron_variant|HIGH|PLA2G6|ENSG00000184381|transcript|ENST00000430886|protein_coding|1/3|c.-41-1G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|splice_acceptor_variant&intron_variant|HIGH|PLA2G6|ENSG00000184381|transcript|ENST00000447598|protein_coding|1/3|c.-41-1G>A||||||,T|5_prime_UTR_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|2/17|c.-42G>A|||||42|,T|5_prime_UTR_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|2/16|c.-42G>A|||||42|,T|5_prime_UTR_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|2/16|c.-42G>A|||||42|,T|5_prime_UTR_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000436218|protein_coding|2/4|c.-42G>A|||||42|,T|5_prime_UTR_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000435484|protein_coding|2/4|c.-42G>A|||||42|,T|5_prime_UTR_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000417303|protein_coding|2/4|c.-42G>A|||||42|,T|5_prime_UTR_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000455341|protein_coding|2/3|c.-42G>A|||||42|WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000594306|protein_coding|2/2|c.-42G>A|||||42|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000479641|processed_transcript||n.-1G>A|||||1391|,T|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452972|processed_transcript||n.-1G>A|||||1378|,T|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000471636|retained_intron|2/5|n.35G>A||||||,T|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000420435|processed_transcript|2/4|n.50G>A||||||,T|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000426674|processed_transcript|2/3|n.124G>A||||||;LOF=(PLA2G6|ENSG00000184381|28|0.07) 22 38609876 . C G . . ANN=G|missense_variant|MODERATE|MAFF|ENSG00000185022|transcript|ENST00000338483|protein_coding|2/3|c.16C>G|p.Leu6Val|378/2490|16/495|6/164||,G|missense_variant|MODERATE|MAFF|ENSG00000185022|transcript|ENST00000538320|protein_coding|2/3|c.16C>G|p.Leu6Val|354/2458|16/495|6/164||,G|missense_variant|MODERATE|MAFF|ENSG00000185022|transcript|ENST00000417948|protein_coding|2/3|c.16C>G|p.Leu6Val|336/697|16/377|6/124||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|MAFF|ENSG00000185022|transcript|ENST00000426621|protein_coding|2/3|c.16C>G|p.Leu6Val|112/2216|16/495|6/164||,G|missense_variant|MODERATE|MAFF|ENSG00000185022|transcript|ENST00000407965|protein_coding|2/3|c.16C>G|p.Leu6Val|219/2325|16/495|6/164||,G|intron_variant|MODIFIER|MAFF|ENSG00000185022|transcript|ENST00000538999|protein_coding|1/1|c.-51-551C>G||||||,G|intron_variant|MODIFIER|MAFF|ENSG00000185022|transcript|ENST00000441709|protein_coding|1/1|c.-51-551C>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 38609892 . T C . . ANN=C|missense_variant|MODERATE|MAFF|ENSG00000185022|transcript|ENST00000338483|protein_coding|2/3|c.32T>C|p.Leu11Pro|394/2490|32/495|11/164||,C|missense_variant|MODERATE|MAFF|ENSG00000185022|transcript|ENST00000538320|protein_coding|2/3|c.32T>C|p.Leu11Pro|370/2458|32/495|11/164||,C|missense_variant|MODERATE|MAFF|ENSG00000185022|transcript|ENST00000417948|protein_coding|2/3|c.32T>C|p.Leu11Pro|352/697|32/377|11/124||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|MAFF|ENSG00000185022|transcript|ENST00000426621|protein_coding|2/3|c.32T>C|p.Leu11Pro|128/2216|32/495|11/164||,C|missense_variant|MODERATE|MAFF|ENSG00000185022|transcript|ENST00000407965|protein_coding|2/3|c.32T>C|p.Leu11Pro|235/2325|32/495|11/164||,C|intron_variant|MODIFIER|MAFF|ENSG00000185022|transcript|ENST00000538999|protein_coding|1/1|c.-51-535T>C||||||,C|intron_variant|MODIFIER|MAFF|ENSG00000185022|transcript|ENST00000441709|protein_coding|1/1|c.-51-535T>C||||||WARNING_TRANSCRIPT_INCOMPLETE 22 38609901 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|MAFF|ENSG00000185022|transcript|ENST00000338483|protein_coding|2/2|c.36+5G>A||||||,A|splice_region_variant&intron_variant|LOW|MAFF|ENSG00000185022|transcript|ENST00000538320|protein_coding|2/2|c.36+5G>A||||||,A|splice_region_variant&intron_variant|LOW|MAFF|ENSG00000185022|transcript|ENST00000417948|protein_coding|2/2|c.36+5G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|splice_region_variant&intron_variant|LOW|MAFF|ENSG00000185022|transcript|ENST00000426621|protein_coding|2/2|c.36+5G>A||||||,A|splice_region_variant&intron_variant|LOW|MAFF|ENSG00000185022|transcript|ENST00000407965|protein_coding|2/2|c.36+5G>A||||||,A|intron_variant|MODIFIER|MAFF|ENSG00000185022|transcript|ENST00000538999|protein_coding|1/1|c.-51-526G>A||||||,A|intron_variant|MODIFIER|MAFF|ENSG00000185022|transcript|ENST00000441709|protein_coding|1/1|c.-51-526G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 38617497 . G A . . ANN=A|synonymous_variant|LOW|TMEM184B|ENSG00000198792|transcript|ENST00000361684|protein_coding|9/9|c.1203C>T|p.Leu401Leu|1427/3593|1203/1224|401/407||,A|synonymous_variant|LOW|TMEM184B|ENSG00000198792|transcript|ENST00000361906|protein_coding|9/9|c.1203C>T|p.Leu401Leu|1412/3611|1203/1224|401/407||,A|3_prime_UTR_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000436674|nonsense_mediated_decay|10/10|n.*1085C>T|||||25368|,A|upstream_gene_variant|MODIFIER|AL021977.1|ENSG00000256873|transcript|ENST00000541788|pseudogene||n.-1C>T|||||377|,A|downstream_gene_variant|MODIFIER|MAFF|ENSG00000185022|transcript|ENST00000338483|protein_coding||c.*857G>A|||||4979|,A|downstream_gene_variant|MODIFIER|MAFF|ENSG00000185022|transcript|ENST00000538320|protein_coding||c.*833G>A|||||4987|,A|downstream_gene_variant|MODIFIER|MAFF|ENSG00000185022|transcript|ENST00000538999|protein_coding||c.*740G>A|||||4987|,A|downstream_gene_variant|MODIFIER|MAFF|ENSG00000185022|transcript|ENST00000426621|protein_coding||c.*591G>A|||||4987|,A|downstream_gene_variant|MODIFIER|MAFF|ENSG00000185022|transcript|ENST00000407965|protein_coding||c.*698G>A|||||4985|,A|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000464059|processed_transcript||n.*430C>T|||||4030|,A|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000488844|retained_intron||n.*566C>T|||||4890|,A|non_coding_exon_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000436674|nonsense_mediated_decay|10/10|n.*1085C>T||||||,A|non_coding_exon_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000504337|processed_transcript|2/2|n.548C>T|||||| 22 38617522 . C T . . ANN=T|missense_variant|MODERATE|TMEM184B|ENSG00000198792|transcript|ENST00000361684|protein_coding|9/9|c.1178G>A|p.Arg393His|1402/3593|1178/1224|393/407||,T|missense_variant|MODERATE|TMEM184B|ENSG00000198792|transcript|ENST00000361906|protein_coding|9/9|c.1178G>A|p.Arg393His|1387/3611|1178/1224|393/407||,T|3_prime_UTR_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000436674|nonsense_mediated_decay|10/10|n.*1060G>A|||||25343|,T|upstream_gene_variant|MODIFIER|AL021977.1|ENSG00000256873|transcript|ENST00000541788|pseudogene||n.-1G>A|||||402|,T|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000464059|processed_transcript||n.*430G>A|||||4005|,T|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000488844|retained_intron||n.*566G>A|||||4865|,T|non_coding_exon_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000436674|nonsense_mediated_decay|10/10|n.*1060G>A||||||,T|non_coding_exon_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000504337|processed_transcript|2/2|n.523G>A|||||| 22 38617563 . G A . . ANN=A|synonymous_variant|LOW|TMEM184B|ENSG00000198792|transcript|ENST00000361684|protein_coding|9/9|c.1137C>T|p.Gly379Gly|1361/3593|1137/1224|379/407||,A|synonymous_variant|LOW|TMEM184B|ENSG00000198792|transcript|ENST00000361906|protein_coding|9/9|c.1137C>T|p.Gly379Gly|1346/3611|1137/1224|379/407||,A|3_prime_UTR_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000436674|nonsense_mediated_decay|10/10|n.*1019C>T|||||25302|,A|upstream_gene_variant|MODIFIER|AL021977.1|ENSG00000256873|transcript|ENST00000541788|pseudogene||n.-1C>T|||||443|,A|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000464059|processed_transcript||n.*430C>T|||||3964|,A|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000488844|retained_intron||n.*566C>T|||||4824|,A|non_coding_exon_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000436674|nonsense_mediated_decay|10/10|n.*1019C>T||||||,A|non_coding_exon_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000504337|processed_transcript|2/2|n.482C>T|||||| 22 38617570 . C T . . ANN=T|missense_variant|MODERATE|TMEM184B|ENSG00000198792|transcript|ENST00000361684|protein_coding|9/9|c.1130G>A|p.Arg377His|1354/3593|1130/1224|377/407||,T|missense_variant|MODERATE|TMEM184B|ENSG00000198792|transcript|ENST00000361906|protein_coding|9/9|c.1130G>A|p.Arg377His|1339/3611|1130/1224|377/407||,T|3_prime_UTR_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000436674|nonsense_mediated_decay|10/10|n.*1012G>A|||||25295|,T|upstream_gene_variant|MODIFIER|AL021977.1|ENSG00000256873|transcript|ENST00000541788|pseudogene||n.-1G>A|||||450|,T|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000464059|processed_transcript||n.*430G>A|||||3957|,T|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000488844|retained_intron||n.*566G>A|||||4817|,T|non_coding_exon_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000436674|nonsense_mediated_decay|10/10|n.*1012G>A||||||,T|non_coding_exon_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000504337|processed_transcript|2/2|n.475G>A|||||| 22 38617704 . G C . . ANN=C|synonymous_variant|LOW|TMEM184B|ENSG00000198792|transcript|ENST00000361684|protein_coding|9/9|c.996C>G|p.Pro332Pro|1220/3593|996/1224|332/407||,C|synonymous_variant|LOW|TMEM184B|ENSG00000198792|transcript|ENST00000361906|protein_coding|9/9|c.996C>G|p.Pro332Pro|1205/3611|996/1224|332/407||,C|3_prime_UTR_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000436674|nonsense_mediated_decay|10/10|n.*878C>G|||||25161|,C|upstream_gene_variant|MODIFIER|AL021977.1|ENSG00000256873|transcript|ENST00000541788|pseudogene||n.-1C>G|||||584|,C|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000464059|processed_transcript||n.*430C>G|||||3823|,C|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000488844|retained_intron||n.*566C>G|||||4683|,C|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000474416|retained_intron||n.*561C>G|||||4902|,C|non_coding_exon_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000436674|nonsense_mediated_decay|10/10|n.*878C>G||||||,C|non_coding_exon_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000504337|processed_transcript|2/2|n.341C>G|||||| 22 38617723 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|TMEM184B|ENSG00000198792|transcript|ENST00000361684|protein_coding|8/8|c.983-6C>T||||||,A|splice_region_variant&intron_variant|LOW|TMEM184B|ENSG00000198792|transcript|ENST00000361906|protein_coding|8/8|c.983-6C>T||||||,A|splice_region_variant&intron_variant|LOW|TMEM184B|ENSG00000198792|transcript|ENST00000436674|nonsense_mediated_decay|9/9|n.*865-6C>T||||||,A|upstream_gene_variant|MODIFIER|AL021977.1|ENSG00000256873|transcript|ENST00000541788|pseudogene||n.-1C>T|||||603|,A|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000464059|processed_transcript||n.*430C>T|||||3804|,A|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000488844|retained_intron||n.*566C>T|||||4664|,A|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000474416|retained_intron||n.*561C>T|||||4883|,A|non_coding_exon_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000504337|processed_transcript|2/2|n.322C>T|||||| 22 38620771 . G A . . ANN=A|upstream_gene_variant|MODIFIER|AL021977.1|ENSG00000256873|transcript|ENST00000541788|pseudogene||n.-1C>T|||||3651|,A|upstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000504337|processed_transcript||n.-1C>T|||||1832|,A|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000464059|processed_transcript||n.*430C>T|||||756|,A|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000488844|retained_intron||n.*566C>T|||||1616|,A|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000474416|retained_intron||n.*561C>T|||||1835|,A|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000403210|protein_coding||c.*570C>T|||||2015|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000361684|protein_coding|8/8|c.982+21C>T||||||,A|intron_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000361906|protein_coding|8/8|c.982+21C>T||||||,A|intron_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000436674|nonsense_mediated_decay|9/9|n.*864+21C>T|||||| 22 38620846 . G A . . ANN=A|synonymous_variant|LOW|TMEM184B|ENSG00000198792|transcript|ENST00000361684|protein_coding|8/9|c.928C>T|p.Leu310Leu|1152/3593|928/1224|310/407||,A|synonymous_variant|LOW|TMEM184B|ENSG00000198792|transcript|ENST00000361906|protein_coding|8/9|c.928C>T|p.Leu310Leu|1137/3611|928/1224|310/407||,A|sequence_feature|LOW|TMEM184B|ENSG00000198792|transmembrane_region:Transmembrane_region|ENST00000361684|protein_coding|8/9|c.928C>T||||||,A|3_prime_UTR_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000436674|nonsense_mediated_decay|9/10|n.*810C>T|||||22019|,A|upstream_gene_variant|MODIFIER|AL021977.1|ENSG00000256873|transcript|ENST00000541788|pseudogene||n.-1C>T|||||3726|,A|upstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000504337|processed_transcript||n.-1C>T|||||1907|,A|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000464059|processed_transcript||n.*430C>T|||||681|,A|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000488844|retained_intron||n.*566C>T|||||1541|,A|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000474416|retained_intron||n.*561C>T|||||1760|,A|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000403210|protein_coding||c.*570C>T|||||1940|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000436674|nonsense_mediated_decay|9/10|n.*810C>T|||||| 22 38620907 . G T . . ANN=T|synonymous_variant|LOW|TMEM184B|ENSG00000198792|transcript|ENST00000361684|protein_coding|8/9|c.867C>A|p.Thr289Thr|1091/3593|867/1224|289/407||,T|synonymous_variant|LOW|TMEM184B|ENSG00000198792|transcript|ENST00000361906|protein_coding|8/9|c.867C>A|p.Thr289Thr|1076/3611|867/1224|289/407||,T|3_prime_UTR_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000436674|nonsense_mediated_decay|9/10|n.*749C>A|||||21958|,T|upstream_gene_variant|MODIFIER|AL021977.1|ENSG00000256873|transcript|ENST00000541788|pseudogene||n.-1C>A|||||3787|,T|upstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000504337|processed_transcript||n.-1C>A|||||1968|,T|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000464059|processed_transcript||n.*430C>A|||||620|,T|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000488844|retained_intron||n.*566C>A|||||1480|,T|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000474416|retained_intron||n.*561C>A|||||1699|,T|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000403210|protein_coding||c.*570C>A|||||1879|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000436674|nonsense_mediated_decay|9/10|n.*749C>A|||||| 22 38620922 . C T . . ANN=T|synonymous_variant|LOW|TMEM184B|ENSG00000198792|transcript|ENST00000361684|protein_coding|8/9|c.852G>A|p.Ser284Ser|1076/3593|852/1224|284/407||,T|synonymous_variant|LOW|TMEM184B|ENSG00000198792|transcript|ENST00000361906|protein_coding|8/9|c.852G>A|p.Ser284Ser|1061/3611|852/1224|284/407||,T|3_prime_UTR_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000436674|nonsense_mediated_decay|9/10|n.*734G>A|||||21943|,T|upstream_gene_variant|MODIFIER|AL021977.1|ENSG00000256873|transcript|ENST00000541788|pseudogene||n.-1G>A|||||3802|,T|upstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000504337|processed_transcript||n.-1G>A|||||1983|,T|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000464059|processed_transcript||n.*430G>A|||||605|,T|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000488844|retained_intron||n.*566G>A|||||1465|,T|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000474416|retained_intron||n.*561G>A|||||1684|,T|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000403210|protein_coding||c.*570G>A|||||1864|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000436674|nonsense_mediated_decay|9/10|n.*734G>A|||||| 22 38620930 . G A . . ANN=A|missense_variant|MODERATE|TMEM184B|ENSG00000198792|transcript|ENST00000361684|protein_coding|8/9|c.844C>T|p.Arg282Cys|1068/3593|844/1224|282/407||,A|missense_variant|MODERATE|TMEM184B|ENSG00000198792|transcript|ENST00000361906|protein_coding|8/9|c.844C>T|p.Arg282Cys|1053/3611|844/1224|282/407||,A|3_prime_UTR_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000436674|nonsense_mediated_decay|9/10|n.*726C>T|||||21935|,A|upstream_gene_variant|MODIFIER|AL021977.1|ENSG00000256873|transcript|ENST00000541788|pseudogene||n.-1C>T|||||3810|,A|upstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000504337|processed_transcript||n.-1C>T|||||1991|,A|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000464059|processed_transcript||n.*430C>T|||||597|,A|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000488844|retained_intron||n.*566C>T|||||1457|,A|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000474416|retained_intron||n.*561C>T|||||1676|,A|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000403210|protein_coding||c.*570C>T|||||1856|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000436674|nonsense_mediated_decay|9/10|n.*726C>T|||||| 22 38621003 . G A . . ANN=A|sequence_feature|LOW|TMEM184B|ENSG00000198792|transmembrane_region:Transmembrane_region|ENST00000361684|protein_coding|7/9|c.788-17C>T||||||,A|sequence_feature|LOW|TMEM184B|ENSG00000198792|transmembrane_region:Transmembrane_region|ENST00000361684|protein_coding|8/9|c.788-17C>T||||||,A|upstream_gene_variant|MODIFIER|AL021977.1|ENSG00000256873|transcript|ENST00000541788|pseudogene||n.-1C>T|||||3883|,A|upstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000504337|processed_transcript||n.-1C>T|||||2064|,A|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000464059|processed_transcript||n.*430C>T|||||524|,A|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000488844|retained_intron||n.*566C>T|||||1384|,A|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000474416|retained_intron||n.*561C>T|||||1603|,A|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000403210|protein_coding||c.*570C>T|||||1783|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000361684|protein_coding|7/8|c.788-17C>T||||||,A|intron_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000361906|protein_coding|7/8|c.788-17C>T||||||,A|intron_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000436674|nonsense_mediated_decay|8/9|n.*670-17C>T|||||| 22 38621004 . G C . . ANN=C|sequence_feature|LOW|TMEM184B|ENSG00000198792|transmembrane_region:Transmembrane_region|ENST00000361684|protein_coding|7/9|c.788-18C>G||||||,C|sequence_feature|LOW|TMEM184B|ENSG00000198792|transmembrane_region:Transmembrane_region|ENST00000361684|protein_coding|8/9|c.788-18C>G||||||,C|upstream_gene_variant|MODIFIER|AL021977.1|ENSG00000256873|transcript|ENST00000541788|pseudogene||n.-1C>G|||||3884|,C|upstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000504337|processed_transcript||n.-1C>G|||||2065|,C|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000464059|processed_transcript||n.*430C>G|||||523|,C|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000488844|retained_intron||n.*566C>G|||||1383|,C|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000474416|retained_intron||n.*561C>G|||||1602|,C|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000403210|protein_coding||c.*570C>G|||||1782|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000361684|protein_coding|7/8|c.788-18C>G||||||,C|intron_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000361906|protein_coding|7/8|c.788-18C>G||||||,C|intron_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000436674|nonsense_mediated_decay|8/9|n.*670-18C>G|||||| 22 38621456 . G A . . ANN=A|synonymous_variant|LOW|TMEM184B|ENSG00000198792|transcript|ENST00000361684|protein_coding|7/9|c.762C>T|p.Ser254Ser|986/3593|762/1224|254/407||,A|synonymous_variant|LOW|TMEM184B|ENSG00000198792|transcript|ENST00000361906|protein_coding|7/9|c.762C>T|p.Ser254Ser|971/3611|762/1224|254/407||,A|sequence_feature|LOW|TMEM184B|ENSG00000198792|transmembrane_region:Transmembrane_region|ENST00000361684|protein_coding|7/9|c.762C>T||||||,A|sequence_feature|LOW|TMEM184B|ENSG00000198792|transmembrane_region:Transmembrane_region|ENST00000361684|protein_coding|8/9|c.762C>T||||||,A|3_prime_UTR_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000436674|nonsense_mediated_decay|8/10|n.*644C>T|||||21409|,A|upstream_gene_variant|MODIFIER|AL021977.1|ENSG00000256873|transcript|ENST00000541788|pseudogene||n.-1C>T|||||4336|,A|upstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000504337|processed_transcript||n.-1C>T|||||2517|,A|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000464059|processed_transcript||n.*430C>T|||||71|,A|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000488844|retained_intron||n.*566C>T|||||931|,A|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000474416|retained_intron||n.*561C>T|||||1150|,A|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000403210|protein_coding||c.*570C>T|||||1330|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000436674|nonsense_mediated_decay|8/10|n.*644C>T|||||| 22 38622871 . G A . . ANN=A|synonymous_variant|LOW|TMEM184B|ENSG00000198792|transcript|ENST00000361684|protein_coding|6/9|c.532C>T|p.Leu178Leu|756/3593|532/1224|178/407||,A|synonymous_variant|LOW|TMEM184B|ENSG00000198792|transcript|ENST00000361906|protein_coding|6/9|c.532C>T|p.Leu178Leu|741/3611|532/1224|178/407||,A|synonymous_variant|LOW|TMEM184B|ENSG00000198792|transcript|ENST00000403210|protein_coding|5/5|c.334C>T|p.Leu112Leu|485/570|334/419|112/138||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|TMEM184B|ENSG00000198792|transmembrane_region:Transmembrane_region|ENST00000361684|protein_coding|6/9|c.532C>T||||||,A|3_prime_UTR_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000436674|nonsense_mediated_decay|7/10|n.*414C>T|||||19994|,A|upstream_gene_variant|MODIFIER|RP1-5O6.5|ENSG00000235246|transcript|ENST00000420172|antisense||n.-1G>A|||||4455|,A|upstream_gene_variant|MODIFIER|RN7SL704P|ENSG00000241693|transcript|ENST00000478699|misc_RNA||n.-1G>A|||||4855|,A|upstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000504337|processed_transcript||n.-1C>T|||||3932|,A|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000457534|nonsense_mediated_decay||n.*408C>T|||||3853|,A|non_coding_exon_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000436674|nonsense_mediated_decay|7/10|n.*414C>T||||||,A|non_coding_exon_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000464059|processed_transcript|4/5|n.271C>T||||||,A|non_coding_exon_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000488844|retained_intron|2/2|n.82C>T||||||,A|non_coding_exon_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000474416|retained_intron|3/3|n.296C>T|||||| 22 38622905 . TGGA T . . ANN=|upstream_gene_variant|MODIFIER|RP1-5O6.5|ENSG00000235246|transcript|ENST00000420172|antisense||n.-1_-1delGGA|||||4420|,|upstream_gene_variant|MODIFIER|RN7SL704P|ENSG00000241693|transcript|ENST00000478699|misc_RNA||n.-1_-1delGGA|||||4820|,|upstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000504337|processed_transcript||n.-1_-1delTCC|||||3967|,|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000457534|nonsense_mediated_decay||n.*408_*408delTCC|||||3818|,|intron_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000361684|protein_coding|5/8|c.526-31_526-29delTCC||||||,|intron_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000361906|protein_coding|5/8|c.526-31_526-29delTCC||||||,|intron_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000436674|nonsense_mediated_decay|6/9|n.*408-31_*408-29delTCC||||||,|intron_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000464059|processed_transcript|3/4|n.265-31_265-29delTCC||||||,|intron_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000488844|retained_intron|1/1|n.76-31_76-29delTCC||||||,|intron_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000474416|retained_intron|2/2|n.290-31_290-29delTCC||||||,|intron_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000403210|protein_coding|4/4|c.328-31_328-29delTCC||||||WARNING_TRANSCRIPT_INCOMPLETE 22 38626766 . A T . . ANN=T|upstream_gene_variant|MODIFIER|RP1-5O6.5|ENSG00000235246|transcript|ENST00000420172|antisense||n.-1A>T|||||560|,T|upstream_gene_variant|MODIFIER|RN7SL704P|ENSG00000241693|transcript|ENST00000478699|misc_RNA||n.-1A>T|||||960|,T|intron_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000361684|protein_coding|4/8|c.450-16T>A||||||,T|intron_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000361906|protein_coding|4/8|c.450-16T>A||||||,T|intron_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000436674|nonsense_mediated_decay|5/9|n.*332-16T>A||||||,T|intron_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000464059|processed_transcript|2/4|n.189-16T>A||||||,T|intron_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000488844|retained_intron|1/1|n.75+484T>A||||||,T|intron_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000474416|retained_intron|1/2|n.214-16T>A||||||,T|intron_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000403210|protein_coding|3/4|c.252-16T>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000457534|nonsense_mediated_decay|3/3|n.*121-16T>A|||||| 22 38627306 . A G . . ANN=G|synonymous_variant|LOW|TMEM184B|ENSG00000198792|transcript|ENST00000361684|protein_coding|4/9|c.393T>C|p.Tyr131Tyr|617/3593|393/1224|131/407||,G|synonymous_variant|LOW|TMEM184B|ENSG00000198792|transcript|ENST00000361906|protein_coding|4/9|c.393T>C|p.Tyr131Tyr|602/3611|393/1224|131/407||,G|synonymous_variant|LOW|TMEM184B|ENSG00000198792|transcript|ENST00000403210|protein_coding|3/5|c.195T>C|p.Tyr65Tyr|346/570|195/419|65/138||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|TMEM184B|ENSG00000198792|transmembrane_region:Transmembrane_region|ENST00000361684|protein_coding|4/9|c.393T>C||||||,G|3_prime_UTR_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000436674|nonsense_mediated_decay|5/10|n.*275T>C|||||15559|,G|3_prime_UTR_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000457534|nonsense_mediated_decay|3/4|n.*64T>C|||||64|,G|upstream_gene_variant|MODIFIER|RP1-5O6.5|ENSG00000235246|transcript|ENST00000420172|antisense||n.-1A>G|||||20|,G|upstream_gene_variant|MODIFIER|RN7SL704P|ENSG00000241693|transcript|ENST00000478699|misc_RNA||n.-1A>G|||||420|,G|non_coding_exon_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000436674|nonsense_mediated_decay|5/10|n.*275T>C||||||,G|non_coding_exon_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000464059|processed_transcript|2/5|n.132T>C||||||,G|non_coding_exon_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000488844|retained_intron|1/2|n.19T>C||||||,G|non_coding_exon_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000474416|retained_intron|1/3|n.157T>C||||||,G|non_coding_exon_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000457534|nonsense_mediated_decay|3/4|n.*64T>C|||||| 22 38627339 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|TMEM184B|ENSG00000198792|transcript|ENST00000361684|protein_coding|4/9|c.360C>T|p.Ala120Ala|584/3593|360/1224|120/407||,A|splice_region_variant&synonymous_variant|LOW|TMEM184B|ENSG00000198792|transcript|ENST00000361906|protein_coding|4/9|c.360C>T|p.Ala120Ala|569/3611|360/1224|120/407||,A|splice_region_variant&non_coding_exon_variant|LOW|TMEM184B|ENSG00000198792|transcript|ENST00000436674|nonsense_mediated_decay|5/10|n.*242C>T||||||,A|splice_region_variant&non_coding_exon_variant|LOW|TMEM184B|ENSG00000198792|transcript|ENST00000464059|processed_transcript|2/5|n.99C>T||||||,A|splice_region_variant&synonymous_variant|LOW|TMEM184B|ENSG00000198792|transcript|ENST00000403210|protein_coding|3/5|c.162C>T|p.Ala54Ala|313/570|162/419|54/138||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000436674|nonsense_mediated_decay|5/10|n.*242C>T|||||15526|,A|3_prime_UTR_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000457534|nonsense_mediated_decay|3/4|n.*31C>T|||||31|,A|upstream_gene_variant|MODIFIER|RN7SL704P|ENSG00000241693|transcript|ENST00000478699|misc_RNA||n.-1G>A|||||387|,A|upstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000488844|retained_intron||n.-1C>T|||||15|,A|non_coding_exon_variant|MODIFIER|RP1-5O6.5|ENSG00000235246|transcript|ENST00000420172|antisense|1/2|n.14G>A||||||,A|non_coding_exon_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000474416|retained_intron|1/3|n.124C>T||||||,A|non_coding_exon_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000457534|nonsense_mediated_decay|3/4|n.*31C>T|||||| 22 38627348 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|TMEM184B|ENSG00000198792|transcript|ENST00000361684|protein_coding|3/8|c.359-8C>T||||||,A|splice_region_variant&intron_variant|LOW|TMEM184B|ENSG00000198792|transcript|ENST00000361906|protein_coding|3/8|c.359-8C>T||||||,A|splice_region_variant&intron_variant|LOW|TMEM184B|ENSG00000198792|transcript|ENST00000436674|nonsense_mediated_decay|4/9|n.*241-8C>T||||||,A|splice_region_variant&intron_variant|LOW|TMEM184B|ENSG00000198792|transcript|ENST00000464059|processed_transcript|1/4|n.98-8C>T||||||,A|splice_region_variant&intron_variant|LOW|TMEM184B|ENSG00000198792|transcript|ENST00000403210|protein_coding|2/4|c.161-8C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000457534|nonsense_mediated_decay|3/4|n.*22C>T|||||22|,A|upstream_gene_variant|MODIFIER|RN7SL704P|ENSG00000241693|transcript|ENST00000478699|misc_RNA||n.-1G>A|||||378|,A|upstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000488844|retained_intron||n.-1C>T|||||24|,A|non_coding_exon_variant|MODIFIER|RP1-5O6.5|ENSG00000235246|transcript|ENST00000420172|antisense|1/2|n.23G>A||||||,A|non_coding_exon_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000474416|retained_intron|1/3|n.115C>T||||||,A|non_coding_exon_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000457534|nonsense_mediated_decay|3/4|n.*22C>T|||||| 22 38627384 . T A . . ANN=A|upstream_gene_variant|MODIFIER|RN7SL704P|ENSG00000241693|transcript|ENST00000478699|misc_RNA||n.-1T>A|||||342|,A|upstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000488844|retained_intron||n.-1A>T|||||60|,A|intron_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000361684|protein_coding|3/8|c.359-44A>T||||||,A|intron_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000361906|protein_coding|3/8|c.359-44A>T||||||,A|intron_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000436674|nonsense_mediated_decay|4/9|n.*241-44A>T||||||,A|intron_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000464059|processed_transcript|1/4|n.98-44A>T||||||,A|intron_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000403210|protein_coding|2/4|c.161-44A>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|RP1-5O6.5|ENSG00000235246|transcript|ENST00000420172|antisense|1/2|n.59T>A||||||,A|non_coding_exon_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000474416|retained_intron|1/3|n.79A>T||||||,A|non_coding_exon_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000457534|nonsense_mediated_decay|3/4|n.214A>T|||||| 22 38641897 . C A . . ANN=A|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000411679|nonsense_mediated_decay||n.*332G>T|||||44|,A|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000466117|retained_intron||n.*542G>T|||||825|,A|intron_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000361684|protein_coding|3/8|c.358+44G>T||||||,A|intron_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000361906|protein_coding|3/8|c.358+44G>T||||||,A|intron_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000436674|nonsense_mediated_decay|4/9|n.*240+44G>T||||||,A|intron_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000403210|protein_coding|2/4|c.160+44G>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000457534|nonsense_mediated_decay|2/3|n.192+1879G>T|||||| 22 38641898 . C A . . ANN=A|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000411679|nonsense_mediated_decay||n.*332G>T|||||43|,A|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000466117|retained_intron||n.*542G>T|||||824|,A|intron_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000361684|protein_coding|3/8|c.358+43G>T||||||,A|intron_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000361906|protein_coding|3/8|c.358+43G>T||||||,A|intron_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000436674|nonsense_mediated_decay|4/9|n.*240+43G>T||||||,A|intron_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000403210|protein_coding|2/4|c.160+43G>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000457534|nonsense_mediated_decay|2/3|n.192+1878G>T|||||| 22 38641909 . G A . . ANN=A|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000411679|nonsense_mediated_decay||n.*332C>T|||||32|,A|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000466117|retained_intron||n.*542C>T|||||813|,A|intron_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000361684|protein_coding|3/8|c.358+32C>T||||||,A|intron_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000361906|protein_coding|3/8|c.358+32C>T||||||,A|intron_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000436674|nonsense_mediated_decay|4/9|n.*240+32C>T||||||,A|intron_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000403210|protein_coding|2/4|c.160+32C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000457534|nonsense_mediated_decay|2/3|n.192+1867C>T|||||| 22 38641959 . C T . . ANN=T|missense_variant|MODERATE|TMEM184B|ENSG00000198792|transcript|ENST00000361684|protein_coding|3/9|c.340G>A|p.Val114Ile|564/3593|340/1224|114/407||,T|missense_variant|MODERATE|TMEM184B|ENSG00000198792|transcript|ENST00000361906|protein_coding|3/9|c.340G>A|p.Val114Ile|549/3611|340/1224|114/407||,T|missense_variant|MODERATE|TMEM184B|ENSG00000198792|transcript|ENST00000403210|protein_coding|2/5|c.142G>A|p.Val48Ile|293/570|142/419|48/138||WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000436674|nonsense_mediated_decay|4/10|n.*222G>A|||||906|,T|3_prime_UTR_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000411679|nonsense_mediated_decay|4/4|n.*201G>A|||||906|,T|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000466117|retained_intron||n.*542G>A|||||763|,T|intron_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000457534|nonsense_mediated_decay|2/3|n.192+1817G>A||||||,T|non_coding_exon_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000436674|nonsense_mediated_decay|4/10|n.*222G>A||||||,T|non_coding_exon_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000411679|nonsense_mediated_decay|4/4|n.*201G>A|||||| 22 38642038 . G A . . ANN=A|synonymous_variant|LOW|TMEM184B|ENSG00000198792|transcript|ENST00000361684|protein_coding|3/9|c.261C>T|p.Ile87Ile|485/3593|261/1224|87/407||,A|synonymous_variant|LOW|TMEM184B|ENSG00000198792|transcript|ENST00000361906|protein_coding|3/9|c.261C>T|p.Ile87Ile|470/3611|261/1224|87/407||,A|synonymous_variant|LOW|TMEM184B|ENSG00000198792|transcript|ENST00000403210|protein_coding|2/5|c.63C>T|p.Ile21Ile|214/570|63/419|21/138||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|TMEM184B|ENSG00000198792|transmembrane_region:Transmembrane_region|ENST00000361684|protein_coding|3/9|c.261C>T||||||,A|3_prime_UTR_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000436674|nonsense_mediated_decay|4/10|n.*143C>T|||||827|,A|3_prime_UTR_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000411679|nonsense_mediated_decay|4/4|n.*122C>T|||||827|,A|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000466117|retained_intron||n.*542C>T|||||684|,A|intron_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000457534|nonsense_mediated_decay|2/3|n.192+1738C>T||||||,A|non_coding_exon_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000436674|nonsense_mediated_decay|4/10|n.*143C>T||||||,A|non_coding_exon_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000411679|nonsense_mediated_decay|4/4|n.*122C>T|||||| 22 38642122 . T G . . ANN=G|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000466117|retained_intron||n.*542A>C|||||600|,G|intron_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000361684|protein_coding|2/8|c.193-16A>C||||||,G|intron_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000361906|protein_coding|2/8|c.193-16A>C||||||,G|intron_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000436674|nonsense_mediated_decay|3/9|n.*75-16A>C||||||,G|intron_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000403210|protein_coding|1/4|c.-6-16A>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000457534|nonsense_mediated_decay|2/3|n.192+1654A>C||||||,G|intron_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000411679|nonsense_mediated_decay|3/3|n.*54-16A>C|||||| 22 38643800 . C T . . ANN=T|synonymous_variant|LOW|TMEM184B|ENSG00000198792|transcript|ENST00000361684|protein_coding|2/9|c.168G>A|p.Thr56Thr|392/3593|168/1224|56/407||,T|synonymous_variant|LOW|TMEM184B|ENSG00000198792|transcript|ENST00000361906|protein_coding|2/9|c.168G>A|p.Thr56Thr|377/3611|168/1224|56/407||,T|sequence_feature|LOW|TMEM184B|ENSG00000198792|transmembrane_region:Transmembrane_region|ENST00000361684|protein_coding|2/9|c.168G>A||||||,T|upstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000403210|protein_coding||c.-152G>A|||||1056|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000436674|nonsense_mediated_decay|2/10|n.168G>A||||||,T|non_coding_exon_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000457534|nonsense_mediated_decay|2/4|n.168G>A||||||,T|non_coding_exon_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000411679|nonsense_mediated_decay|2/4|n.168G>A||||||,T|non_coding_exon_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000466117|retained_intron|2/3|n.348G>A|||||| 22 38643809 . G A . . ANN=A|synonymous_variant|LOW|TMEM184B|ENSG00000198792|transcript|ENST00000361684|protein_coding|2/9|c.159C>T|p.Phe53Phe|383/3593|159/1224|53/407||,A|synonymous_variant|LOW|TMEM184B|ENSG00000198792|transcript|ENST00000361906|protein_coding|2/9|c.159C>T|p.Phe53Phe|368/3611|159/1224|53/407||,A|sequence_feature|LOW|TMEM184B|ENSG00000198792|transmembrane_region:Transmembrane_region|ENST00000361684|protein_coding|2/9|c.159C>T||||||,A|upstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000403210|protein_coding||c.-152C>T|||||1065|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000436674|nonsense_mediated_decay|2/10|n.159C>T||||||,A|non_coding_exon_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000457534|nonsense_mediated_decay|2/4|n.159C>T||||||,A|non_coding_exon_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000411679|nonsense_mediated_decay|2/4|n.159C>T||||||,A|non_coding_exon_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000466117|retained_intron|2/3|n.339C>T|||||| 22 38643992 . T C . . ANN=C|5_prime_UTR_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000361684|protein_coding|2/9|c.-25A>G|||||25|,C|5_prime_UTR_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000361906|protein_coding|2/9|c.-25A>G|||||25|,C|5_prime_UTR_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000436674|nonsense_mediated_decay|2/10|n.-25A>G|||||25|,C|5_prime_UTR_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000457534|nonsense_mediated_decay|2/4|n.-25A>G|||||25|,C|5_prime_UTR_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000411679|nonsense_mediated_decay|2/4|n.-25A>G|||||25|,C|upstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000403210|protein_coding||c.-152A>G|||||1248|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000436674|nonsense_mediated_decay|2/10|n.-25A>G||||||,C|non_coding_exon_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000457534|nonsense_mediated_decay|2/4|n.-25A>G||||||,C|non_coding_exon_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000411679|nonsense_mediated_decay|2/4|n.-25A>G||||||,C|non_coding_exon_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000466117|retained_intron|2/3|n.156A>G|||||| 22 38689279 . A G . . ANN=G|3_prime_UTR_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000359867|protein_coding|10/11|c.*14T>C|||||14|,G|3_prime_UTR_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000396832|protein_coding|10/11|c.*14T>C|||||14|,G|3_prime_UTR_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000400206|protein_coding|14/15|c.*14T>C|||||14|,G|3_prime_UTR_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000366216|protein_coding|3/4|c.*14T>C|||||14|WARNING_TRANSCRIPT_NO_START_CODON,G|3_prime_UTR_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431632|protein_coding|4/5|c.*14T>C|||||14|WARNING_TRANSCRIPT_NO_START_CODON,G|3_prime_UTR_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000403904|protein_coding|10/10|c.*14T>C|||||14|,G|3_prime_UTR_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431611|nonsense_mediated_decay|7/7|n.*446T>C|||||5517|,G|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000494610|retained_intron||n.*539T>C|||||630|,G|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000413574|protein_coding||c.*1275T>C|||||2932|,G|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000405675|protein_coding||c.*1228T>C|||||2933|,G|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000498529|processed_transcript||n.*381T>C|||||3353|,G|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000442216|nonsense_mediated_decay||n.*275T>C|||||4329|,G|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000451964|protein_coding||c.*812T>C|||||4756|WARNING_TRANSCRIPT_NO_START_CODON,G|non_coding_exon_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000495232|retained_intron|3/3|n.305T>C||||||,G|non_coding_exon_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431611|nonsense_mediated_decay|7/7|n.*446T>C|||||| 22 38689281 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000359867|protein_coding|10/11|c.*12A>G|||||12|,C|3_prime_UTR_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000396832|protein_coding|10/11|c.*12A>G|||||12|,C|3_prime_UTR_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000400206|protein_coding|14/15|c.*12A>G|||||12|,C|3_prime_UTR_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000366216|protein_coding|3/4|c.*12A>G|||||12|WARNING_TRANSCRIPT_NO_START_CODON,C|3_prime_UTR_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431632|protein_coding|4/5|c.*12A>G|||||12|WARNING_TRANSCRIPT_NO_START_CODON,C|3_prime_UTR_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000403904|protein_coding|10/10|c.*12A>G|||||12|,C|3_prime_UTR_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431611|nonsense_mediated_decay|7/7|n.*444A>G|||||5515|,C|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000494610|retained_intron||n.*539A>G|||||628|,C|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000413574|protein_coding||c.*1275A>G|||||2930|,C|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000405675|protein_coding||c.*1228A>G|||||2931|,C|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000498529|processed_transcript||n.*381A>G|||||3351|,C|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000442216|nonsense_mediated_decay||n.*275A>G|||||4327|,C|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000451964|protein_coding||c.*812A>G|||||4754|WARNING_TRANSCRIPT_NO_START_CODON,C|non_coding_exon_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000495232|retained_intron|3/3|n.303A>G||||||,C|non_coding_exon_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431611|nonsense_mediated_decay|7/7|n.*444A>G|||||| 22 38689284 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000359867|protein_coding|10/11|c.*9C>T|||||9|,A|3_prime_UTR_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000396832|protein_coding|10/11|c.*9C>T|||||9|,A|3_prime_UTR_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000400206|protein_coding|14/15|c.*9C>T|||||9|,A|3_prime_UTR_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000366216|protein_coding|3/4|c.*9C>T|||||9|WARNING_TRANSCRIPT_NO_START_CODON,A|3_prime_UTR_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431632|protein_coding|4/5|c.*9C>T|||||9|WARNING_TRANSCRIPT_NO_START_CODON,A|3_prime_UTR_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000403904|protein_coding|10/10|c.*9C>T|||||9|,A|3_prime_UTR_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431611|nonsense_mediated_decay|7/7|n.*441C>T|||||5512|,A|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000494610|retained_intron||n.*539C>T|||||625|,A|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000413574|protein_coding||c.*1275C>T|||||2927|,A|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000405675|protein_coding||c.*1228C>T|||||2928|,A|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000498529|processed_transcript||n.*381C>T|||||3348|,A|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000442216|nonsense_mediated_decay||n.*275C>T|||||4324|,A|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000451964|protein_coding||c.*812C>T|||||4751|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000495232|retained_intron|3/3|n.300C>T||||||,A|non_coding_exon_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431611|nonsense_mediated_decay|7/7|n.*441C>T|||||| 22 38689321 . C T . . ANN=T|missense_variant|MODERATE|CSNK1E|ENSG00000213923|transcript|ENST00000359867|protein_coding|10/11|c.1223G>A|p.Ser408Asn|1334/2642|1223/1251|408/416||,T|missense_variant|MODERATE|CSNK1E|ENSG00000213923|transcript|ENST00000396832|protein_coding|10/11|c.1223G>A|p.Ser408Asn|1484/2791|1223/1251|408/416||,T|missense_variant|MODERATE|CSNK1E|ENSG00000213923|transcript|ENST00000400206|protein_coding|14/15|c.1223G>A|p.Ser408Asn|1689/2321|1223/1251|408/416||,T|missense_variant|MODERATE|CSNK1E|ENSG00000213923|transcript|ENST00000366216|protein_coding|3/4|c.329G>A|p.Ser110Asn|331/1005|329/357|110/118||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|CSNK1E|ENSG00000213923|transcript|ENST00000431632|protein_coding|4/5|c.404G>A|p.Ser135Asn|405/763|404/432|135/143||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|CSNK1E|ENSG00000213923|transcript|ENST00000403904|protein_coding|10/10|c.1223G>A|p.Ser408Asn|1515/1580|1223/1251|408/416||,T|3_prime_UTR_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431611|nonsense_mediated_decay|7/7|n.*404G>A|||||5475|,T|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000494610|retained_intron||n.*539G>A|||||588|,T|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000413574|protein_coding||c.*1275G>A|||||2890|,T|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000405675|protein_coding||c.*1228G>A|||||2891|,T|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000498529|processed_transcript||n.*381G>A|||||3311|,T|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000442216|nonsense_mediated_decay||n.*275G>A|||||4287|,T|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000451964|protein_coding||c.*812G>A|||||4714|WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000495232|retained_intron|3/3|n.263G>A||||||,T|non_coding_exon_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431611|nonsense_mediated_decay|7/7|n.*404G>A|||||| 22 38689336 . TGGGGAGGGAGAGAG T . . ANN=|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000494610|retained_intron||n.*539_*539delCTCTCTCCCTCCCC|||||572|,|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000413574|protein_coding||c.*1275_*1275delCTCTCTCCCTCCCC|||||2874|,|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000405675|protein_coding||c.*1228_*1228delCTCTCTCCCTCCCC|||||2875|,|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000498529|processed_transcript||n.*381_*381delCTCTCTCCCTCCCC|||||3295|,|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000442216|nonsense_mediated_decay||n.*275_*275delCTCTCTCCCTCCCC|||||4271|,|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000451964|protein_coding||c.*812_*812delCTCTCTCCCTCCCC|||||4698|WARNING_TRANSCRIPT_NO_START_CODON,|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000359867|protein_coding|9/10|c.1219-25_1219-12delCTCTCTCCCTCCCC||||||,|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000396832|protein_coding|9/10|c.1219-25_1219-12delCTCTCTCCCTCCCC||||||,|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000400206|protein_coding|13/14|c.1219-25_1219-12delCTCTCTCCCTCCCC||||||,|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000366216|protein_coding|2/3|c.325-25_325-12delCTCTCTCCCTCCCC||||||WARNING_TRANSCRIPT_NO_START_CODON,|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431632|protein_coding|3/4|c.400-25_400-12delCTCTCTCCCTCCCC||||||WARNING_TRANSCRIPT_NO_START_CODON,|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000495232|retained_intron|2/2|n.259-25_259-12delCTCTCTCCCTCCCC||||||,|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000403904|protein_coding|9/9|c.1219-25_1219-12delCTCTCTCCCTCCCC||||||,|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431611|nonsense_mediated_decay|6/6|n.*400-25_*400-12delCTCTCTCCCTCCCC|||||| 22 38690076 . G A . . ANN=A|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000413574|protein_coding||c.*1275C>T|||||2135|,A|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000405675|protein_coding||c.*1228C>T|||||2136|,A|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000498529|processed_transcript||n.*381C>T|||||2556|,A|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000442216|nonsense_mediated_decay||n.*275C>T|||||3532|,A|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000451964|protein_coding||c.*812C>T|||||3959|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000467976|retained_intron||n.*884C>T|||||4510|,A|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000359867|protein_coding|9/10|c.1218+39C>T||||||,A|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000396832|protein_coding|9/10|c.1218+39C>T||||||,A|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000400206|protein_coding|13/14|c.1218+39C>T||||||,A|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000366216|protein_coding|2/3|c.324+39C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431632|protein_coding|3/4|c.399+39C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000495232|retained_intron|2/2|n.258+39C>T||||||,A|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000403904|protein_coding|9/9|c.1218+39C>T||||||,A|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431611|nonsense_mediated_decay|6/6|n.*399+39C>T||||||,A|non_coding_exon_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000494610|retained_intron|2/2|n.372C>T|||||| 22 38690262 . G T . . ANN=T|splice_region_variant&intron_variant|LOW|CSNK1E|ENSG00000213923|transcript|ENST00000359867|protein_coding|8/10|c.1079-8C>A||||||,T|splice_region_variant&intron_variant|LOW|CSNK1E|ENSG00000213923|transcript|ENST00000396832|protein_coding|8/10|c.1079-8C>A||||||,T|splice_region_variant&intron_variant|LOW|CSNK1E|ENSG00000213923|transcript|ENST00000400206|protein_coding|12/14|c.1079-8C>A||||||,T|splice_region_variant&intron_variant|LOW|CSNK1E|ENSG00000213923|transcript|ENST00000366216|protein_coding|1/3|c.185-8C>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|splice_region_variant&intron_variant|LOW|CSNK1E|ENSG00000213923|transcript|ENST00000431632|protein_coding|2/4|c.260-8C>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|splice_region_variant&intron_variant|LOW|CSNK1E|ENSG00000213923|transcript|ENST00000495232|retained_intron|1/2|n.119-8C>A||||||,T|splice_region_variant&intron_variant|LOW|CSNK1E|ENSG00000213923|transcript|ENST00000403904|protein_coding|8/9|c.1079-8C>A||||||,T|splice_region_variant&intron_variant|LOW|CSNK1E|ENSG00000213923|transcript|ENST00000431611|nonsense_mediated_decay|5/6|n.*260-8C>A||||||,T|splice_region_variant&intron_variant|LOW|CSNK1E|ENSG00000213923|transcript|ENST00000494610|retained_intron|1/1|n.194-8C>A||||||,T|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000413574|protein_coding||c.*1275C>A|||||1949|,T|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000405675|protein_coding||c.*1228C>A|||||1950|,T|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000498529|processed_transcript||n.*381C>A|||||2370|,T|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000442216|nonsense_mediated_decay||n.*275C>A|||||3346|,T|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000451964|protein_coding||c.*812C>A|||||3773|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000467976|retained_intron||n.*884C>A|||||4324| 22 38690281 . CA C . . ANN=|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000413574|protein_coding||c.*1275delT|||||1929|,|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000405675|protein_coding||c.*1228delT|||||1930|,|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000498529|processed_transcript||n.*381delT|||||2350|,|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000442216|nonsense_mediated_decay||n.*275delT|||||3326|,|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000451964|protein_coding||c.*812delT|||||3753|WARNING_TRANSCRIPT_NO_START_CODON,|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000467976|retained_intron||n.*884delT|||||4304|,|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000359867|protein_coding|8/10|c.1079-28delT||||||,|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000396832|protein_coding|8/10|c.1079-28delT||||||,|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000400206|protein_coding|12/14|c.1079-28delT||||||,|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000366216|protein_coding|1/3|c.185-28delT||||||WARNING_TRANSCRIPT_NO_START_CODON,|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431632|protein_coding|2/4|c.260-28delT||||||WARNING_TRANSCRIPT_NO_START_CODON,|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000495232|retained_intron|1/2|n.119-28delT||||||,|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000403904|protein_coding|8/9|c.1079-28delT||||||,|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431611|nonsense_mediated_decay|5/6|n.*260-28delT||||||,|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000494610|retained_intron|1/1|n.194-28delT|||||| 22 38690301 . C T . . ANN=T|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000413574|protein_coding||c.*1275G>A|||||1910|,T|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000405675|protein_coding||c.*1228G>A|||||1911|,T|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000498529|processed_transcript||n.*381G>A|||||2331|,T|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000442216|nonsense_mediated_decay||n.*275G>A|||||3307|,T|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000451964|protein_coding||c.*812G>A|||||3734|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000467976|retained_intron||n.*884G>A|||||4285|,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000359867|protein_coding|8/10|c.1078+47G>A||||||,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000396832|protein_coding|8/10|c.1078+47G>A||||||,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000400206|protein_coding|12/14|c.1078+47G>A||||||,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000366216|protein_coding|1/3|c.184+47G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431632|protein_coding|2/4|c.259+47G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000495232|retained_intron|1/2|n.118+47G>A||||||,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000403904|protein_coding|8/9|c.1078+47G>A||||||,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431611|nonsense_mediated_decay|5/6|n.*259+47G>A||||||,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000494610|retained_intron|1/1|n.193+47G>A|||||| 22 38694884 . G A . . ANN=A|synonymous_variant|LOW|CSNK1E|ENSG00000213923|transcript|ENST00000359867|protein_coding|7/11|c.792C>T|p.Pro264Pro|903/2642|792/1251|264/416||,A|synonymous_variant|LOW|CSNK1E|ENSG00000213923|transcript|ENST00000396832|protein_coding|7/11|c.792C>T|p.Pro264Pro|1053/2791|792/1251|264/416||,A|synonymous_variant|LOW|CSNK1E|ENSG00000213923|transcript|ENST00000400206|protein_coding|11/15|c.792C>T|p.Pro264Pro|1258/2321|792/1251|264/416||,A|synonymous_variant|LOW|CSNK1E|ENSG00000213923|transcript|ENST00000403904|protein_coding|7/10|c.792C>T|p.Pro264Pro|1084/1580|792/1251|264/416||,A|synonymous_variant|LOW|CSNK1E|ENSG00000213923|transcript|ENST00000413574|protein_coding|7/8|c.792C>T|p.Pro264Pro|1056/1631|792/1011|264/336||,A|synonymous_variant|LOW|CSNK1E|ENSG00000213923|transcript|ENST00000405675|protein_coding|7/8|c.792C>T|p.Pro264Pro|1084/2127|792/936|264/311||,A|synonymous_variant|LOW|CSNK1E|ENSG00000213923|transcript|ENST00000451964|protein_coding|4/5|c.603C>T|p.Pro201Pro|605/873|603/810|201/269||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|4/10|c.792C>T||||||,A|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|3/10|c.792C>T||||||,A|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|6/10|c.792C>T||||||,A|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|7/10|c.792C>T||||||,A|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|2/10|c.792C>T||||||,A|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|5/10|c.792C>T||||||,A|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000366216|protein_coding||c.-3C>T|||||4351|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431632|protein_coding||c.-2C>T|||||27|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000495232|retained_intron||n.-1C>T|||||4419|,A|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000494610|retained_intron||n.-1C>T|||||4344|,A|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000430335|protein_coding||c.*996C>T|||||1077|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431611|nonsense_mediated_decay|3/7|n.266C>T||||||,A|non_coding_exon_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000498529|processed_transcript|2/3|n.227C>T||||||,A|non_coding_exon_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000442216|nonsense_mediated_decay|2/4|n.185C>T||||||,A|non_coding_exon_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000467976|retained_intron|4/4|n.586C>T|||||| 22 38694909 . C T . . ANN=T|missense_variant|MODERATE|CSNK1E|ENSG00000213923|transcript|ENST00000359867|protein_coding|7/11|c.767G>A|p.Arg256His|878/2642|767/1251|256/416||,T|missense_variant|MODERATE|CSNK1E|ENSG00000213923|transcript|ENST00000396832|protein_coding|7/11|c.767G>A|p.Arg256His|1028/2791|767/1251|256/416||,T|missense_variant|MODERATE|CSNK1E|ENSG00000213923|transcript|ENST00000400206|protein_coding|11/15|c.767G>A|p.Arg256His|1233/2321|767/1251|256/416||,T|missense_variant|MODERATE|CSNK1E|ENSG00000213923|transcript|ENST00000403904|protein_coding|7/10|c.767G>A|p.Arg256His|1059/1580|767/1251|256/416||,T|missense_variant|MODERATE|CSNK1E|ENSG00000213923|transcript|ENST00000413574|protein_coding|7/8|c.767G>A|p.Arg256His|1031/1631|767/1011|256/336||,T|missense_variant|MODERATE|CSNK1E|ENSG00000213923|transcript|ENST00000405675|protein_coding|7/8|c.767G>A|p.Arg256His|1059/2127|767/936|256/311||,T|missense_variant|MODERATE|CSNK1E|ENSG00000213923|transcript|ENST00000451964|protein_coding|4/5|c.578G>A|p.Arg193His|580/873|578/810|193/269||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|4/10|c.767G>A||||||,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|3/10|c.767G>A||||||,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|6/10|c.767G>A||||||,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|7/10|c.767G>A||||||,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|2/10|c.767G>A||||||,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|5/10|c.767G>A||||||,T|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000366216|protein_coding||c.-3G>A|||||4376|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431632|protein_coding||c.-2G>A|||||52|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000495232|retained_intron||n.-1G>A|||||4444|,T|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000494610|retained_intron||n.-1G>A|||||4369|,T|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000430335|protein_coding||c.*996G>A|||||1052|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431611|nonsense_mediated_decay|3/7|n.241G>A||||||,T|non_coding_exon_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000498529|processed_transcript|2/3|n.202G>A||||||,T|non_coding_exon_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000442216|nonsense_mediated_decay|2/4|n.160G>A||||||,T|non_coding_exon_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000467976|retained_intron|4/4|n.561G>A|||||| 22 38694966 . A G . . ANN=G|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|4/10|c.737-27T>C||||||,G|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|3/10|c.737-27T>C||||||,G|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|6/10|c.737-27T>C||||||,G|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|7/10|c.737-27T>C||||||,G|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|2/10|c.737-27T>C||||||,G|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|5/10|c.737-27T>C||||||,G|sequence_feature|LOW|CSNK1E|ENSG00000213923|helix|ENST00000403904|protein_coding|6/10|c.737-27T>C||||||,G|sequence_feature|LOW|CSNK1E|ENSG00000213923|helix|ENST00000403904|protein_coding|7/10|c.737-27T>C||||||,G|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000366216|protein_coding||c.-3T>C|||||4433|WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431632|protein_coding||c.-2T>C|||||109|WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000495232|retained_intron||n.-1T>C|||||4501|,G|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000494610|retained_intron||n.-1T>C|||||4426|,G|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000430335|protein_coding||c.*996T>C|||||995|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000359867|protein_coding|6/10|c.737-27T>C||||||,G|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000396832|protein_coding|6/10|c.737-27T>C||||||,G|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000400206|protein_coding|10/14|c.737-27T>C||||||,G|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000403904|protein_coding|6/9|c.737-27T>C||||||,G|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431611|nonsense_mediated_decay|2/6|n.211-27T>C||||||,G|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000413574|protein_coding|6/7|c.737-27T>C||||||,G|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000405675|protein_coding|6/7|c.737-27T>C||||||,G|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000498529|processed_transcript|1/2|n.172-27T>C||||||,G|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000442216|nonsense_mediated_decay|1/3|n.130-27T>C||||||,G|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000451964|protein_coding|3/4|c.548-27T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000467976|retained_intron|3/3|n.531-27T>C|||||| 22 38694972 . C T . . ANN=T|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|4/10|c.737-33G>A||||||,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|3/10|c.737-33G>A||||||,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|6/10|c.737-33G>A||||||,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|7/10|c.737-33G>A||||||,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|2/10|c.737-33G>A||||||,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|5/10|c.737-33G>A||||||,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|helix|ENST00000403904|protein_coding|6/10|c.737-33G>A||||||,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|helix|ENST00000403904|protein_coding|7/10|c.737-33G>A||||||,T|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000366216|protein_coding||c.-3G>A|||||4439|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431632|protein_coding||c.-2G>A|||||115|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000495232|retained_intron||n.-1G>A|||||4507|,T|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000494610|retained_intron||n.-1G>A|||||4432|,T|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000430335|protein_coding||c.*996G>A|||||989|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000359867|protein_coding|6/10|c.737-33G>A||||||,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000396832|protein_coding|6/10|c.737-33G>A||||||,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000400206|protein_coding|10/14|c.737-33G>A||||||,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000403904|protein_coding|6/9|c.737-33G>A||||||,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431611|nonsense_mediated_decay|2/6|n.211-33G>A||||||,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000413574|protein_coding|6/7|c.737-33G>A||||||,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000405675|protein_coding|6/7|c.737-33G>A||||||,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000498529|processed_transcript|1/2|n.172-33G>A||||||,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000442216|nonsense_mediated_decay|1/3|n.130-33G>A||||||,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000451964|protein_coding|3/4|c.548-33G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000467976|retained_intron|3/3|n.531-33G>A|||||| 22 38694980 . C G . . ANN=G|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|4/10|c.737-41G>C||||||,G|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|3/10|c.737-41G>C||||||,G|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|6/10|c.737-41G>C||||||,G|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|7/10|c.737-41G>C||||||,G|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|2/10|c.737-41G>C||||||,G|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|5/10|c.737-41G>C||||||,G|sequence_feature|LOW|CSNK1E|ENSG00000213923|helix|ENST00000403904|protein_coding|6/10|c.737-41G>C||||||,G|sequence_feature|LOW|CSNK1E|ENSG00000213923|helix|ENST00000403904|protein_coding|7/10|c.737-41G>C||||||,G|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000366216|protein_coding||c.-3G>C|||||4447|WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431632|protein_coding||c.-2G>C|||||123|WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000495232|retained_intron||n.-1G>C|||||4515|,G|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000494610|retained_intron||n.-1G>C|||||4440|,G|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000430335|protein_coding||c.*996G>C|||||981|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000359867|protein_coding|6/10|c.737-41G>C||||||,G|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000396832|protein_coding|6/10|c.737-41G>C||||||,G|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000400206|protein_coding|10/14|c.737-41G>C||||||,G|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000403904|protein_coding|6/9|c.737-41G>C||||||,G|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431611|nonsense_mediated_decay|2/6|n.211-41G>C||||||,G|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000413574|protein_coding|6/7|c.737-41G>C||||||,G|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000405675|protein_coding|6/7|c.737-41G>C||||||,G|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000498529|processed_transcript|1/2|n.172-41G>C||||||,G|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000442216|nonsense_mediated_decay|1/3|n.130-41G>C||||||,G|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000451964|protein_coding|3/4|c.548-41G>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000467976|retained_intron|3/3|n.531-41G>C|||||| 22 38695852 . A G . . ANN=G|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|4/10|c.736+48T>C||||||,G|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|3/10|c.736+48T>C||||||,G|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|6/10|c.736+48T>C||||||,G|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|7/10|c.736+48T>C||||||,G|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|2/10|c.736+48T>C||||||,G|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|5/10|c.736+48T>C||||||,G|sequence_feature|LOW|CSNK1E|ENSG00000213923|helix|ENST00000403904|protein_coding|6/10|c.736+48T>C||||||,G|sequence_feature|LOW|CSNK1E|ENSG00000213923|helix|ENST00000403904|protein_coding|7/10|c.736+48T>C||||||,G|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431632|protein_coding||c.-2T>C|||||995|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000430335|protein_coding||c.*996T>C|||||109|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000359867|protein_coding|6/10|c.736+48T>C||||||,G|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000396832|protein_coding|6/10|c.736+48T>C||||||,G|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000400206|protein_coding|10/14|c.736+48T>C||||||,G|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000403904|protein_coding|6/9|c.736+48T>C||||||,G|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431611|nonsense_mediated_decay|2/6|n.210+48T>C||||||,G|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000413574|protein_coding|6/7|c.736+48T>C||||||,G|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000405675|protein_coding|6/7|c.736+48T>C||||||,G|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000498529|processed_transcript|1/2|n.171+48T>C||||||,G|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000442216|nonsense_mediated_decay|1/3|n.129+48T>C||||||,G|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000451964|protein_coding|3/4|c.547+48T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000467976|retained_intron|3/3|n.530+48T>C|||||| 22 38695873 . C T . . ANN=T|TF_binding_site_variant|LOW|||Ap2alpha|MA0003.1|||||||||,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|4/10|c.736+27G>A||||||,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|3/10|c.736+27G>A||||||,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|6/10|c.736+27G>A||||||,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|7/10|c.736+27G>A||||||,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|2/10|c.736+27G>A||||||,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|5/10|c.736+27G>A||||||,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|helix|ENST00000403904|protein_coding|6/10|c.736+27G>A||||||,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|helix|ENST00000403904|protein_coding|7/10|c.736+27G>A||||||,T|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431632|protein_coding||c.-2G>A|||||1016|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000430335|protein_coding||c.*996G>A|||||88|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000359867|protein_coding|6/10|c.736+27G>A||||||,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000396832|protein_coding|6/10|c.736+27G>A||||||,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000400206|protein_coding|10/14|c.736+27G>A||||||,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000403904|protein_coding|6/9|c.736+27G>A||||||,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431611|nonsense_mediated_decay|2/6|n.210+27G>A||||||,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000413574|protein_coding|6/7|c.736+27G>A||||||,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000405675|protein_coding|6/7|c.736+27G>A||||||,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000498529|processed_transcript|1/2|n.171+27G>A||||||,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000442216|nonsense_mediated_decay|1/3|n.129+27G>A||||||,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000451964|protein_coding|3/4|c.547+27G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000467976|retained_intron|3/3|n.530+27G>A|||||| 22 38695931 . C T . . ANN=T|synonymous_variant|LOW|CSNK1E|ENSG00000213923|transcript|ENST00000359867|protein_coding|6/11|c.705G>A|p.Thr235Thr|816/2642|705/1251|235/416||,T|synonymous_variant|LOW|CSNK1E|ENSG00000213923|transcript|ENST00000396832|protein_coding|6/11|c.705G>A|p.Thr235Thr|966/2791|705/1251|235/416||,T|synonymous_variant|LOW|CSNK1E|ENSG00000213923|transcript|ENST00000400206|protein_coding|10/15|c.705G>A|p.Thr235Thr|1171/2321|705/1251|235/416||,T|synonymous_variant|LOW|CSNK1E|ENSG00000213923|transcript|ENST00000403904|protein_coding|6/10|c.705G>A|p.Thr235Thr|997/1580|705/1251|235/416||,T|synonymous_variant|LOW|CSNK1E|ENSG00000213923|transcript|ENST00000413574|protein_coding|6/8|c.705G>A|p.Thr235Thr|969/1631|705/1011|235/336||,T|synonymous_variant|LOW|CSNK1E|ENSG00000213923|transcript|ENST00000405675|protein_coding|6/8|c.705G>A|p.Thr235Thr|997/2127|705/936|235/311||,T|synonymous_variant|LOW|CSNK1E|ENSG00000213923|transcript|ENST00000451964|protein_coding|3/5|c.516G>A|p.Thr172Thr|518/873|516/810|172/269||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|4/10|c.705G>A||||||,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|3/10|c.705G>A||||||,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|6/10|c.705G>A||||||,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|7/10|c.705G>A||||||,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|2/10|c.705G>A||||||,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|5/10|c.705G>A||||||,T|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431632|protein_coding||c.-2G>A|||||1074|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000430335|protein_coding||c.*996G>A|||||30|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431611|nonsense_mediated_decay|2/7|n.179G>A||||||,T|non_coding_exon_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000498529|processed_transcript|1/3|n.140G>A||||||,T|non_coding_exon_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000442216|nonsense_mediated_decay|1/4|n.98G>A||||||,T|non_coding_exon_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000467976|retained_intron|3/4|n.499G>A|||||| 22 38696113 . T C . . ANN=C|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|4/10|c.566-43A>G||||||,C|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|3/10|c.566-43A>G||||||,C|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|6/10|c.566-43A>G||||||,C|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|7/10|c.566-43A>G||||||,C|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|2/10|c.566-43A>G||||||,C|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|5/10|c.566-43A>G||||||,C|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431632|protein_coding||c.-2A>G|||||1256|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000498529|processed_transcript||n.-1A>G|||||43|,C|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000442216|nonsense_mediated_decay||n.-3A>G|||||83|,C|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000359867|protein_coding|5/10|c.566-43A>G||||||,C|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000396832|protein_coding|5/10|c.566-43A>G||||||,C|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000400206|protein_coding|9/14|c.566-43A>G||||||,C|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000403904|protein_coding|5/9|c.566-43A>G||||||,C|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431611|nonsense_mediated_decay|1/6|n.40-43A>G||||||,C|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000413574|protein_coding|5/7|c.566-43A>G||||||,C|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000405675|protein_coding|5/7|c.566-43A>G||||||,C|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000451964|protein_coding|2/4|c.377-43A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000467976|retained_intron|2/3|n.360-43A>G||||||,C|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000430335|protein_coding|5/5|c.566-43A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 38696696 . G A . . ANN=A|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|4/10|c.565+33C>T||||||,A|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|3/10|c.565+33C>T||||||,A|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|6/10|c.565+33C>T||||||,A|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|7/10|c.565+33C>T||||||,A|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|2/10|c.565+33C>T||||||,A|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|5/10|c.565+33C>T||||||,A|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431632|protein_coding||c.-2C>T|||||1839|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000498529|processed_transcript||n.-1C>T|||||626|,A|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000442216|nonsense_mediated_decay||n.-3C>T|||||666|,A|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000359867|protein_coding|5/10|c.565+33C>T||||||,A|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000396832|protein_coding|5/10|c.565+33C>T||||||,A|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000400206|protein_coding|9/14|c.565+33C>T||||||,A|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000403904|protein_coding|5/9|c.565+33C>T||||||,A|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431611|nonsense_mediated_decay|1/6|n.39+33C>T||||||,A|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000413574|protein_coding|5/7|c.565+33C>T||||||,A|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000405675|protein_coding|5/7|c.565+33C>T||||||,A|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000451964|protein_coding|2/4|c.376+33C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000467976|retained_intron|2/3|n.359+33C>T||||||,A|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000430335|protein_coding|5/5|c.565+33C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 38696874 . C T . . ANN=T|synonymous_variant|LOW|CSNK1E|ENSG00000213923|transcript|ENST00000359867|protein_coding|5/11|c.420G>A|p.Lys140Lys|531/2642|420/1251|140/416||,T|synonymous_variant|LOW|CSNK1E|ENSG00000213923|transcript|ENST00000396832|protein_coding|5/11|c.420G>A|p.Lys140Lys|681/2791|420/1251|140/416||,T|synonymous_variant|LOW|CSNK1E|ENSG00000213923|transcript|ENST00000400206|protein_coding|9/15|c.420G>A|p.Lys140Lys|886/2321|420/1251|140/416||,T|synonymous_variant|LOW|CSNK1E|ENSG00000213923|transcript|ENST00000403904|protein_coding|5/10|c.420G>A|p.Lys140Lys|712/1580|420/1251|140/416||,T|synonymous_variant|LOW|CSNK1E|ENSG00000213923|transcript|ENST00000413574|protein_coding|5/8|c.420G>A|p.Lys140Lys|684/1631|420/1011|140/336||,T|synonymous_variant|LOW|CSNK1E|ENSG00000213923|transcript|ENST00000405675|protein_coding|5/8|c.420G>A|p.Lys140Lys|712/2127|420/936|140/311||,T|synonymous_variant|LOW|CSNK1E|ENSG00000213923|transcript|ENST00000451964|protein_coding|2/5|c.231G>A|p.Lys77Lys|233/873|231/810|77/269||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|CSNK1E|ENSG00000213923|transcript|ENST00000430335|protein_coding|5/6|c.420G>A|p.Lys140Lys|741/996|420/675|140/224||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|4/10|c.420G>A||||||,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|3/10|c.420G>A||||||,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|6/10|c.420G>A||||||,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|7/10|c.420G>A||||||,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|2/10|c.420G>A||||||,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|5/10|c.420G>A||||||,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|helix|ENST00000403904|protein_coding|5/10|c.420G>A||||||,T|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431632|protein_coding||c.-2G>A|||||2017|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431611|nonsense_mediated_decay||n.-2G>A|||||106|,T|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000498529|processed_transcript||n.-1G>A|||||804|,T|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000442216|nonsense_mediated_decay||n.-3G>A|||||844|,T|non_coding_exon_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000467976|retained_intron|2/4|n.214G>A|||||| 22 38696901 . G A . . ANN=A|synonymous_variant|LOW|CSNK1E|ENSG00000213923|transcript|ENST00000359867|protein_coding|5/11|c.393C>T|p.Pro131Pro|504/2642|393/1251|131/416||,A|synonymous_variant|LOW|CSNK1E|ENSG00000213923|transcript|ENST00000396832|protein_coding|5/11|c.393C>T|p.Pro131Pro|654/2791|393/1251|131/416||,A|synonymous_variant|LOW|CSNK1E|ENSG00000213923|transcript|ENST00000400206|protein_coding|9/15|c.393C>T|p.Pro131Pro|859/2321|393/1251|131/416||,A|synonymous_variant|LOW|CSNK1E|ENSG00000213923|transcript|ENST00000403904|protein_coding|5/10|c.393C>T|p.Pro131Pro|685/1580|393/1251|131/416||,A|synonymous_variant|LOW|CSNK1E|ENSG00000213923|transcript|ENST00000413574|protein_coding|5/8|c.393C>T|p.Pro131Pro|657/1631|393/1011|131/336||,A|synonymous_variant|LOW|CSNK1E|ENSG00000213923|transcript|ENST00000405675|protein_coding|5/8|c.393C>T|p.Pro131Pro|685/2127|393/936|131/311||,A|synonymous_variant|LOW|CSNK1E|ENSG00000213923|transcript|ENST00000451964|protein_coding|2/5|c.204C>T|p.Pro68Pro|206/873|204/810|68/269||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|CSNK1E|ENSG00000213923|transcript|ENST00000430335|protein_coding|5/6|c.393C>T|p.Pro131Pro|714/996|393/675|131/224||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|4/10|c.393C>T||||||,A|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|3/10|c.393C>T||||||,A|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|6/10|c.393C>T||||||,A|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|7/10|c.393C>T||||||,A|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|2/10|c.393C>T||||||,A|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|5/10|c.393C>T||||||,A|sequence_feature|LOW|CSNK1E|ENSG00000213923|helix|ENST00000403904|protein_coding|5/10|c.393C>T||||||,A|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431632|protein_coding||c.-2C>T|||||2044|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431611|nonsense_mediated_decay||n.-2C>T|||||133|,A|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000498529|processed_transcript||n.-1C>T|||||831|,A|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000442216|nonsense_mediated_decay||n.-3C>T|||||871|,A|non_coding_exon_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000467976|retained_intron|2/4|n.187C>T|||||| 22 38696975 . C T . . ANN=T|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|4/10|c.337-18G>A||||||,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|3/10|c.337-18G>A||||||,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|6/10|c.337-18G>A||||||,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|7/10|c.337-18G>A||||||,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|2/10|c.337-18G>A||||||,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|5/10|c.337-18G>A||||||,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|helix|ENST00000403904|protein_coding|4/10|c.337-18G>A||||||,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|helix|ENST00000403904|protein_coding|5/10|c.337-18G>A||||||,T|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431632|protein_coding||c.-2G>A|||||2118|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431611|nonsense_mediated_decay||n.-2G>A|||||207|,T|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000498529|processed_transcript||n.-1G>A|||||905|,T|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000442216|nonsense_mediated_decay||n.-3G>A|||||945|,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000359867|protein_coding|4/10|c.337-18G>A||||||,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000396832|protein_coding|4/10|c.337-18G>A||||||,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000400206|protein_coding|8/14|c.337-18G>A||||||,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000403904|protein_coding|4/9|c.337-18G>A||||||,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000413574|protein_coding|4/7|c.337-18G>A||||||,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000405675|protein_coding|4/7|c.337-18G>A||||||,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000451964|protein_coding|1/4|c.148-18G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000467976|retained_intron|1/3|n.131-18G>A||||||,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000430335|protein_coding|4/5|c.337-18G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 38698820 . T C . . ANN=C|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|4/10|c.336+46A>G||||||,C|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|3/10|c.336+46A>G||||||,C|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|6/10|c.336+46A>G||||||,C|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|7/10|c.336+46A>G||||||,C|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|2/10|c.336+46A>G||||||,C|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|5/10|c.336+46A>G||||||,C|sequence_feature|LOW|CSNK1E|ENSG00000213923|helix|ENST00000403904|protein_coding|4/10|c.336+46A>G||||||,C|sequence_feature|LOW|CSNK1E|ENSG00000213923|helix|ENST00000403904|protein_coding|5/10|c.336+46A>G||||||,C|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431632|protein_coding||c.-2A>G|||||3963|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431611|nonsense_mediated_decay||n.-2A>G|||||2052|,C|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000498529|processed_transcript||n.-1A>G|||||2750|,C|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000442216|nonsense_mediated_decay||n.-3A>G|||||2790|,C|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000359867|protein_coding|4/10|c.336+46A>G||||||,C|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000396832|protein_coding|4/10|c.336+46A>G||||||,C|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000400206|protein_coding|8/14|c.336+46A>G||||||,C|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000403904|protein_coding|4/9|c.336+46A>G||||||,C|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000413574|protein_coding|4/7|c.336+46A>G||||||,C|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000405675|protein_coding|4/7|c.336+46A>G||||||,C|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000451964|protein_coding|1/4|c.147+46A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000467976|retained_intron|1/3|n.130+46A>G||||||,C|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000430335|protein_coding|4/5|c.336+46A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 38698822 . G T . . ANN=T|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|4/10|c.336+44C>A||||||,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|3/10|c.336+44C>A||||||,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|6/10|c.336+44C>A||||||,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|7/10|c.336+44C>A||||||,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|2/10|c.336+44C>A||||||,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|5/10|c.336+44C>A||||||,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|helix|ENST00000403904|protein_coding|4/10|c.336+44C>A||||||,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|helix|ENST00000403904|protein_coding|5/10|c.336+44C>A||||||,T|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431632|protein_coding||c.-2C>A|||||3965|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431611|nonsense_mediated_decay||n.-2C>A|||||2054|,T|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000498529|processed_transcript||n.-1C>A|||||2752|,T|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000442216|nonsense_mediated_decay||n.-3C>A|||||2792|,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000359867|protein_coding|4/10|c.336+44C>A||||||,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000396832|protein_coding|4/10|c.336+44C>A||||||,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000400206|protein_coding|8/14|c.336+44C>A||||||,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000403904|protein_coding|4/9|c.336+44C>A||||||,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000413574|protein_coding|4/7|c.336+44C>A||||||,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000405675|protein_coding|4/7|c.336+44C>A||||||,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000451964|protein_coding|1/4|c.147+44C>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000467976|retained_intron|1/3|n.130+44C>A||||||,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000430335|protein_coding|4/5|c.336+44C>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 38698855 . C T . . ANN=T|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|4/10|c.336+11G>A||||||,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|3/10|c.336+11G>A||||||,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|6/10|c.336+11G>A||||||,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|7/10|c.336+11G>A||||||,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|2/10|c.336+11G>A||||||,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|5/10|c.336+11G>A||||||,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|helix|ENST00000403904|protein_coding|4/10|c.336+11G>A||||||,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|helix|ENST00000403904|protein_coding|5/10|c.336+11G>A||||||,T|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431632|protein_coding||c.-2G>A|||||3998|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431611|nonsense_mediated_decay||n.-2G>A|||||2087|,T|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000498529|processed_transcript||n.-1G>A|||||2785|,T|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000442216|nonsense_mediated_decay||n.-3G>A|||||2825|,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000359867|protein_coding|4/10|c.336+11G>A||||||,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000396832|protein_coding|4/10|c.336+11G>A||||||,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000400206|protein_coding|8/14|c.336+11G>A||||||,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000403904|protein_coding|4/9|c.336+11G>A||||||,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000413574|protein_coding|4/7|c.336+11G>A||||||,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000405675|protein_coding|4/7|c.336+11G>A||||||,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000451964|protein_coding|1/4|c.147+11G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000467976|retained_intron|1/3|n.130+11G>A||||||,T|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000430335|protein_coding|4/5|c.336+11G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 38698856 . G A . . ANN=A|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|4/10|c.336+10C>T||||||,A|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|3/10|c.336+10C>T||||||,A|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|6/10|c.336+10C>T||||||,A|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|7/10|c.336+10C>T||||||,A|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|2/10|c.336+10C>T||||||,A|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|5/10|c.336+10C>T||||||,A|sequence_feature|LOW|CSNK1E|ENSG00000213923|helix|ENST00000403904|protein_coding|4/10|c.336+10C>T||||||,A|sequence_feature|LOW|CSNK1E|ENSG00000213923|helix|ENST00000403904|protein_coding|5/10|c.336+10C>T||||||,A|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431632|protein_coding||c.-2C>T|||||3999|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431611|nonsense_mediated_decay||n.-2C>T|||||2088|,A|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000498529|processed_transcript||n.-1C>T|||||2786|,A|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000442216|nonsense_mediated_decay||n.-3C>T|||||2826|,A|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000359867|protein_coding|4/10|c.336+10C>T||||||,A|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000396832|protein_coding|4/10|c.336+10C>T||||||,A|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000400206|protein_coding|8/14|c.336+10C>T||||||,A|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000403904|protein_coding|4/9|c.336+10C>T||||||,A|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000413574|protein_coding|4/7|c.336+10C>T||||||,A|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000405675|protein_coding|4/7|c.336+10C>T||||||,A|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000451964|protein_coding|1/4|c.147+10C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000467976|retained_intron|1/3|n.130+10C>T||||||,A|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000430335|protein_coding|4/5|c.336+10C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 38699050 . GAGGC G . . ANN=|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|4/10|c.188-40_188-37delGCCT||||||,|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|3/10|c.188-40_188-37delGCCT||||||,|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|6/10|c.188-40_188-37delGCCT||||||,|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|7/10|c.188-40_188-37delGCCT||||||,|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|2/10|c.188-40_188-37delGCCT||||||,|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|5/10|c.188-40_188-37delGCCT||||||,|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431632|protein_coding||c.-2_-2delGCCT|||||4194|WARNING_TRANSCRIPT_NO_START_CODON,|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431611|nonsense_mediated_decay||n.-2_-2delGCCT|||||2283|,|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000498529|processed_transcript||n.-1_-1delGCCT|||||2981|,|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000442216|nonsense_mediated_decay||n.-3_-3delGCCT|||||3021|,|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000451964|protein_coding||c.-3_-3delGCCT|||||37|WARNING_TRANSCRIPT_NO_START_CODON,|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000467976|retained_intron||n.-1_-1delGCCT|||||56|,|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000359867|protein_coding|3/10|c.188-40_188-37delGCCT||||||,|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000396832|protein_coding|3/10|c.188-40_188-37delGCCT||||||,|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000400206|protein_coding|7/14|c.188-40_188-37delGCCT||||||,|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000403904|protein_coding|3/9|c.188-40_188-37delGCCT||||||,|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000413574|protein_coding|3/7|c.188-40_188-37delGCCT||||||,|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000405675|protein_coding|3/7|c.188-40_188-37delGCCT||||||,|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000430335|protein_coding|3/5|c.188-40_188-37delGCCT||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 38699102 . G A . . ANN=A|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|4/10|c.187+41C>T||||||,A|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|3/10|c.187+41C>T||||||,A|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|6/10|c.187+41C>T||||||,A|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|7/10|c.187+41C>T||||||,A|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|2/10|c.187+41C>T||||||,A|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|5/10|c.187+41C>T||||||,A|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431632|protein_coding||c.-2C>T|||||4245|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431611|nonsense_mediated_decay||n.-2C>T|||||2334|,A|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000498529|processed_transcript||n.-1C>T|||||3032|,A|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000442216|nonsense_mediated_decay||n.-3C>T|||||3072|,A|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000451964|protein_coding||c.-3C>T|||||88|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000467976|retained_intron||n.-1C>T|||||107|,A|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000359867|protein_coding|3/10|c.187+41C>T||||||,A|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000396832|protein_coding|3/10|c.187+41C>T||||||,A|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000400206|protein_coding|7/14|c.187+41C>T||||||,A|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000403904|protein_coding|3/9|c.187+41C>T||||||,A|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000413574|protein_coding|3/7|c.187+41C>T||||||,A|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000405675|protein_coding|3/7|c.187+41C>T||||||,A|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000430335|protein_coding|3/5|c.187+41C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 38699120 . G A . . ANN=A|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|4/10|c.187+23C>T||||||,A|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|3/10|c.187+23C>T||||||,A|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|6/10|c.187+23C>T||||||,A|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|7/10|c.187+23C>T||||||,A|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|2/10|c.187+23C>T||||||,A|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|5/10|c.187+23C>T||||||,A|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431632|protein_coding||c.-2C>T|||||4263|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431611|nonsense_mediated_decay||n.-2C>T|||||2352|,A|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000498529|processed_transcript||n.-1C>T|||||3050|,A|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000442216|nonsense_mediated_decay||n.-3C>T|||||3090|,A|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000451964|protein_coding||c.-3C>T|||||106|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000467976|retained_intron||n.-1C>T|||||125|,A|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000359867|protein_coding|3/10|c.187+23C>T||||||,A|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000396832|protein_coding|3/10|c.187+23C>T||||||,A|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000400206|protein_coding|7/14|c.187+23C>T||||||,A|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000403904|protein_coding|3/9|c.187+23C>T||||||,A|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000413574|protein_coding|3/7|c.187+23C>T||||||,A|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000405675|protein_coding|3/7|c.187+23C>T||||||,A|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000430335|protein_coding|3/5|c.187+23C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 38710074 . T A . . ANN=A|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|4/10|c.76+13A>T||||||,A|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|3/10|c.76+13A>T||||||,A|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|6/10|c.76+13A>T||||||,A|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|7/10|c.76+13A>T||||||,A|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|2/10|c.76+13A>T||||||,A|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|5/10|c.76+13A>T||||||,A|sequence_feature|LOW|CSNK1E|ENSG00000213923|beta_strand|ENST00000403904|protein_coding|3/10|c.76+13A>T||||||,A|sequence_feature|LOW|CSNK1E|ENSG00000213923|beta_strand|ENST00000403904|protein_coding|2/10|c.76+13A>T||||||,A|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000359867|protein_coding|2/10|c.76+13A>T||||||,A|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000396832|protein_coding|2/10|c.76+13A>T||||||,A|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000400206|protein_coding|6/14|c.76+13A>T||||||,A|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000403904|protein_coding|2/9|c.76+13A>T||||||,A|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000413574|protein_coding|2/7|c.76+13A>T||||||,A|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000405675|protein_coding|2/7|c.76+13A>T||||||,A|intron_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000430335|protein_coding|2/5|c.76+13A>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 38710112 . G A . . ANN=A|synonymous_variant|LOW|CSNK1E|ENSG00000213923|transcript|ENST00000359867|protein_coding|2/11|c.51C>T|p.Ser17Ser|162/2642|51/1251|17/416||,A|synonymous_variant|LOW|CSNK1E|ENSG00000213923|transcript|ENST00000396832|protein_coding|2/11|c.51C>T|p.Ser17Ser|312/2791|51/1251|17/416||,A|synonymous_variant|LOW|CSNK1E|ENSG00000213923|transcript|ENST00000400206|protein_coding|6/15|c.51C>T|p.Ser17Ser|517/2321|51/1251|17/416||,A|synonymous_variant|LOW|CSNK1E|ENSG00000213923|transcript|ENST00000403904|protein_coding|2/10|c.51C>T|p.Ser17Ser|343/1580|51/1251|17/416||,A|synonymous_variant|LOW|CSNK1E|ENSG00000213923|transcript|ENST00000413574|protein_coding|2/8|c.51C>T|p.Ser17Ser|315/1631|51/1011|17/336||,A|synonymous_variant|LOW|CSNK1E|ENSG00000213923|transcript|ENST00000405675|protein_coding|2/8|c.51C>T|p.Ser17Ser|343/2127|51/936|17/311||,A|synonymous_variant|LOW|CSNK1E|ENSG00000213923|transcript|ENST00000430335|protein_coding|2/6|c.51C>T|p.Ser17Ser|372/996|51/675|17/224||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|4/10|c.51C>T||||||,A|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|3/10|c.51C>T||||||,A|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|6/10|c.51C>T||||||,A|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|7/10|c.51C>T||||||,A|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|2/10|c.51C>T||||||,A|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|5/10|c.51C>T||||||,A|sequence_feature|LOW|CSNK1E|ENSG00000213923|nucleotide_phosphate-binding_region:ATP|ENST00000403904|protein_coding|2/10|c.51C>T|||||| 22 38822894 . C T . . ANN=T|missense_variant|MODERATE|KCNJ4|ENSG00000168135|transcript|ENST00000303592|protein_coding|2/2|c.1244G>A|p.Arg415Gln|1503/2065|1244/1338|415/445||,T|sequence_feature|LOW|KCNJ4|ENSG00000168135|topological_domain:Cytoplasmic|ENST00000303592|protein_coding|2/2|c.1244G>A||||||,T|intron_variant|MODIFIER|RP3-434P1.6|ENSG00000228620|transcript|ENST00000433230|antisense|2/2|n.297-188C>T|||||| 22 38822905 . C T . . ANN=T|synonymous_variant|LOW|KCNJ4|ENSG00000168135|transcript|ENST00000303592|protein_coding|2/2|c.1233G>A|p.Ala411Ala|1492/2065|1233/1338|411/445||,T|sequence_feature|LOW|KCNJ4|ENSG00000168135|topological_domain:Cytoplasmic|ENST00000303592|protein_coding|2/2|c.1233G>A||||||,T|intron_variant|MODIFIER|RP3-434P1.6|ENSG00000228620|transcript|ENST00000433230|antisense|2/2|n.297-177C>T|||||| 22 38822923 . C T . . ANN=T|synonymous_variant|LOW|KCNJ4|ENSG00000168135|transcript|ENST00000303592|protein_coding|2/2|c.1215G>A|p.Ala405Ala|1474/2065|1215/1338|405/445||,T|sequence_feature|LOW|KCNJ4|ENSG00000168135|topological_domain:Cytoplasmic|ENST00000303592|protein_coding|2/2|c.1215G>A||||||,T|intron_variant|MODIFIER|RP3-434P1.6|ENSG00000228620|transcript|ENST00000433230|antisense|2/2|n.297-159C>T|||||| 22 38822953 . GGCC G . . ANN=|disruptive_inframe_deletion|MODERATE|KCNJ4|ENSG00000168135|transcript|ENST00000303592|protein_coding|2/2|c.1182_1184delGGC|p.Ala395del|1443/2065|1182/1338|394/445||,|sequence_feature|LOW|KCNJ4|ENSG00000168135|topological_domain:Cytoplasmic|ENST00000303592|protein_coding|2/2|c.1182_1184delGGC||||||,|sequence_feature|LOW|KCNJ4|ENSG00000168135|compositionally_biased_region:Poly-Ala|ENST00000303592|protein_coding|2/2|c.1182_1184delGGC||||||,|intron_variant|MODIFIER|RP3-434P1.6|ENSG00000228620|transcript|ENST00000433230|antisense|2/2|n.297-123_297-121delCGC||||||INFO_REALIGN_3_PRIME 22 38822957 . G A . . ANN=A|missense_variant|MODERATE|KCNJ4|ENSG00000168135|transcript|ENST00000303592|protein_coding|2/2|c.1181C>T|p.Ala394Val|1440/2065|1181/1338|394/445||,A|sequence_feature|LOW|KCNJ4|ENSG00000168135|topological_domain:Cytoplasmic|ENST00000303592|protein_coding|2/2|c.1181C>T||||||,A|sequence_feature|LOW|KCNJ4|ENSG00000168135|compositionally_biased_region:Poly-Ala|ENST00000303592|protein_coding|2/2|c.1181C>T||||||,A|intron_variant|MODIFIER|RP3-434P1.6|ENSG00000228620|transcript|ENST00000433230|antisense|2/2|n.297-125G>A|||||| 22 38823019 . G A . . ANN=A|synonymous_variant|LOW|KCNJ4|ENSG00000168135|transcript|ENST00000303592|protein_coding|2/2|c.1119C>T|p.Tyr373Tyr|1378/2065|1119/1338|373/445||,A|sequence_feature|LOW|KCNJ4|ENSG00000168135|topological_domain:Cytoplasmic|ENST00000303592|protein_coding|2/2|c.1119C>T||||||,A|intron_variant|MODIFIER|RP3-434P1.6|ENSG00000228620|transcript|ENST00000433230|antisense|2/2|n.297-63G>A|||||| 22 38823118 . G A . . ANN=A|synonymous_variant|LOW|KCNJ4|ENSG00000168135|transcript|ENST00000303592|protein_coding|2/2|c.1020C>T|p.Tyr340Tyr|1279/2065|1020/1338|340/445||,A|sequence_feature|LOW|KCNJ4|ENSG00000168135|topological_domain:Cytoplasmic|ENST00000303592|protein_coding|2/2|c.1020C>T||||||,A|non_coding_exon_variant|MODIFIER|RP3-434P1.6|ENSG00000228620|transcript|ENST00000433230|antisense|3/3|n.333G>A|||||| 22 38823136 . T C . . ANN=C|synonymous_variant|LOW|KCNJ4|ENSG00000168135|transcript|ENST00000303592|protein_coding|2/2|c.1002A>G|p.Ser334Ser|1261/2065|1002/1338|334/445||,C|sequence_feature|LOW|KCNJ4|ENSG00000168135|topological_domain:Cytoplasmic|ENST00000303592|protein_coding|2/2|c.1002A>G||||||,C|non_coding_exon_variant|MODIFIER|RP3-434P1.6|ENSG00000228620|transcript|ENST00000433230|antisense|3/3|n.351T>C|||||| 22 38823235 . G A . . ANN=A|synonymous_variant|LOW|KCNJ4|ENSG00000168135|transcript|ENST00000303592|protein_coding|2/2|c.903C>T|p.Thr301Thr|1162/2065|903/1338|301/445||,A|sequence_feature|LOW|KCNJ4|ENSG00000168135|topological_domain:Cytoplasmic|ENST00000303592|protein_coding|2/2|c.903C>T||||||,A|non_coding_exon_variant|MODIFIER|RP3-434P1.6|ENSG00000228620|transcript|ENST00000433230|antisense|3/3|n.450G>A|||||| 22 38823436 . G A . . ANN=A|synonymous_variant|LOW|KCNJ4|ENSG00000168135|transcript|ENST00000303592|protein_coding|2/2|c.702C>T|p.Tyr234Tyr|961/2065|702/1338|234/445||,A|sequence_feature|LOW|KCNJ4|ENSG00000168135|topological_domain:Cytoplasmic|ENST00000303592|protein_coding|2/2|c.702C>T||||||,A|downstream_gene_variant|MODIFIER|RP3-434P1.6|ENSG00000228620|transcript|ENST00000433230|antisense||n.*556G>A|||||95| 22 38823550 . G A . . ANN=A|synonymous_variant|LOW|KCNJ4|ENSG00000168135|transcript|ENST00000303592|protein_coding|2/2|c.588C>T|p.Arg196Arg|847/2065|588/1338|196/445||,A|sequence_feature|LOW|KCNJ4|ENSG00000168135|topological_domain:Cytoplasmic|ENST00000303592|protein_coding|2/2|c.588C>T||||||,A|downstream_gene_variant|MODIFIER|RP3-434P1.6|ENSG00000228620|transcript|ENST00000433230|antisense||n.*556G>A|||||209| 22 38823592 . C T . . ANN=T|synonymous_variant|LOW|KCNJ4|ENSG00000168135|transcript|ENST00000303592|protein_coding|2/2|c.546G>A|p.Ala182Ala|805/2065|546/1338|182/445||,T|sequence_feature|LOW|KCNJ4|ENSG00000168135|topological_domain:Cytoplasmic|ENST00000303592|protein_coding|2/2|c.546G>A||||||,T|downstream_gene_variant|MODIFIER|RP3-434P1.6|ENSG00000228620|transcript|ENST00000433230|antisense||n.*556C>T|||||251| 22 38823676 . C G . . ANN=G|synonymous_variant|LOW|KCNJ4|ENSG00000168135|transcript|ENST00000303592|protein_coding|2/2|c.462G>C|p.Val154Val|721/2065|462/1338|154/445||,G|sequence_feature|LOW|KCNJ4|ENSG00000168135|transmembrane_region:Transmembrane_region|ENST00000303592|protein_coding|2/2|c.462G>C||||||,G|downstream_gene_variant|MODIFIER|RP3-434P1.6|ENSG00000228620|transcript|ENST00000433230|antisense||n.*556C>G|||||335| 22 38823828 . C T . . ANN=T|missense_variant|MODERATE|KCNJ4|ENSG00000168135|transcript|ENST00000303592|protein_coding|2/2|c.310G>A|p.Gly104Ser|569/2065|310/1338|104/445||,T|sequence_feature|LOW|KCNJ4|ENSG00000168135|topological_domain:Extracellular|ENST00000303592|protein_coding|2/2|c.310G>A||||||,T|sequence_feature|LOW|KCNJ4|ENSG00000168135|region_of_interest:Val/Gly/Ala/Pro_stretch|ENST00000303592|protein_coding|2/2|c.310G>A||||||,T|sequence_feature|LOW|KCNJ4|ENSG00000168135|compositionally_biased_region:Poly-Gly|ENST00000303592|protein_coding|2/2|c.310G>A||||||,T|downstream_gene_variant|MODIFIER|RP3-434P1.6|ENSG00000228620|transcript|ENST00000433230|antisense||n.*556C>T|||||487| 22 38823838 . C T . . ANN=T|synonymous_variant|LOW|KCNJ4|ENSG00000168135|transcript|ENST00000303592|protein_coding|2/2|c.300G>A|p.Ala100Ala|559/2065|300/1338|100/445||,T|sequence_feature|LOW|KCNJ4|ENSG00000168135|topological_domain:Extracellular|ENST00000303592|protein_coding|2/2|c.300G>A||||||,T|sequence_feature|LOW|KCNJ4|ENSG00000168135|region_of_interest:Val/Gly/Ala/Pro_stretch|ENST00000303592|protein_coding|2/2|c.300G>A||||||,T|downstream_gene_variant|MODIFIER|RP3-434P1.6|ENSG00000228620|transcript|ENST00000433230|antisense||n.*556C>T|||||497| 22 38823895 . G A . . ANN=A|synonymous_variant|LOW|KCNJ4|ENSG00000168135|transcript|ENST00000303592|protein_coding|2/2|c.243C>T|p.Ala81Ala|502/2065|243/1338|81/445||,A|sequence_feature|LOW|KCNJ4|ENSG00000168135|topological_domain:Extracellular|ENST00000303592|protein_coding|2/2|c.243C>T||||||,A|downstream_gene_variant|MODIFIER|RP3-434P1.6|ENSG00000228620|transcript|ENST00000433230|antisense||n.*556G>A|||||554| 22 38823919 . G A . . ANN=A|synonymous_variant|LOW|KCNJ4|ENSG00000168135|transcript|ENST00000303592|protein_coding|2/2|c.219C>T|p.Phe73Phe|478/2065|219/1338|73/445||,A|sequence_feature|LOW|KCNJ4|ENSG00000168135|transmembrane_region:Transmembrane_region|ENST00000303592|protein_coding|2/2|c.219C>T||||||,A|downstream_gene_variant|MODIFIER|RP3-434P1.6|ENSG00000228620|transcript|ENST00000433230|antisense||n.*556G>A|||||578| 22 38823948 . C T . . ANN=T|missense_variant|MODERATE|KCNJ4|ENSG00000168135|transcript|ENST00000303592|protein_coding|2/2|c.190G>A|p.Ala64Thr|449/2065|190/1338|64/445||,T|sequence_feature|LOW|KCNJ4|ENSG00000168135|transmembrane_region:Transmembrane_region|ENST00000303592|protein_coding|2/2|c.190G>A||||||,T|downstream_gene_variant|MODIFIER|RP3-434P1.6|ENSG00000228620|transcript|ENST00000433230|antisense||n.*556C>T|||||607| 22 38824051 . G A . . ANN=A|synonymous_variant|LOW|KCNJ4|ENSG00000168135|transcript|ENST00000303592|protein_coding|2/2|c.87C>T|p.Asn29Asn|346/2065|87/1338|29/445||,A|sequence_feature|LOW|KCNJ4|ENSG00000168135|topological_domain:Cytoplasmic|ENST00000303592|protein_coding|2/2|c.87C>T||||||,A|downstream_gene_variant|MODIFIER|RP3-434P1.6|ENSG00000228620|transcript|ENST00000433230|antisense||n.*556G>A|||||710| 22 38864300 . G A . . ANN=A|missense_variant|MODERATE|KDELR3|ENSG00000100196|transcript|ENST00000409006|protein_coding|1/4|c.62G>A|p.Gly21Glu|218/931|62/663|21/220||,A|missense_variant|MODERATE|KDELR3|ENSG00000100196|transcript|ENST00000216014|protein_coding|1/5|c.62G>A|p.Gly21Glu|234/1728|62/645|21/214||,A|sequence_feature|LOW|KDELR3|ENSG00000100196|transmembrane_region:Transmembrane_region|ENST00000409006|protein_coding|1/4|c.62G>A||||||,A|sequence_feature|LOW|KDELR3|ENSG00000100196|transmembrane_region:Transmembrane_region|ENST00000216014|protein_coding|1/5|c.62G>A|||||| 22 38870580 . C G . . ANN=G|stop_gained|HIGH|KDELR3|ENSG00000100196|transcript|ENST00000409006|protein_coding|2/4|c.144C>G|p.Tyr48*|300/931|144/663|48/220||,G|stop_gained|HIGH|KDELR3|ENSG00000100196|transcript|ENST00000216014|protein_coding|2/5|c.144C>G|p.Tyr48*|316/1728|144/645|48/214||,G|sequence_feature|LOW|KDELR3|ENSG00000100196|transmembrane_region:Transmembrane_region|ENST00000409006|protein_coding|2/4|c.144C>G||||||,G|sequence_feature|LOW|KDELR3|ENSG00000100196|transmembrane_region:Transmembrane_region|ENST00000216014|protein_coding|2/5|c.144C>G||||||,G|non_coding_exon_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000471268|processed_transcript|2/5|n.83C>G||||||;LOF=(KDELR3|ENSG00000100196|3|0.67);NMD=(KDELR3|ENSG00000100196|3|0.67) 22 38875549 . C T . . ANN=T|sequence_feature|LOW|KDELR3|ENSG00000100196|transmembrane_region:Transmembrane_region|ENST00000409006|protein_coding|2/4|c.193-49C>T||||||,T|sequence_feature|LOW|KDELR3|ENSG00000100196|transmembrane_region:Transmembrane_region|ENST00000409006|protein_coding|3/4|c.193-49C>T||||||,T|sequence_feature|LOW|KDELR3|ENSG00000100196|transmembrane_region:Transmembrane_region|ENST00000216014|protein_coding|2/5|c.193-49C>T||||||,T|sequence_feature|LOW|KDELR3|ENSG00000100196|transmembrane_region:Transmembrane_region|ENST00000216014|protein_coding|3/5|c.193-49C>T||||||,T|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding||c.*2296G>A|||||3896|,T|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000444597|protein_coding||c.*1158G>A|||||3920|,T|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding||c.*2299G>A|||||3920|,T|intron_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000409006|protein_coding|2/3|c.193-49C>T||||||,T|intron_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000216014|protein_coding|2/4|c.193-49C>T||||||,T|intron_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000471268|processed_transcript|2/4|n.132-49C>T|||||| 22 38875632 . A G . . ANN=G|missense_variant|MODERATE|KDELR3|ENSG00000100196|transcript|ENST00000409006|protein_coding|3/4|c.227A>G|p.Tyr76Cys|383/931|227/663|76/220||,G|missense_variant|MODERATE|KDELR3|ENSG00000100196|transcript|ENST00000216014|protein_coding|3/5|c.227A>G|p.Tyr76Cys|399/1728|227/645|76/214||,G|sequence_feature|LOW|KDELR3|ENSG00000100196|transmembrane_region:Transmembrane_region|ENST00000409006|protein_coding|2/4|c.227A>G||||||,G|sequence_feature|LOW|KDELR3|ENSG00000100196|transmembrane_region:Transmembrane_region|ENST00000409006|protein_coding|3/4|c.227A>G||||||,G|sequence_feature|LOW|KDELR3|ENSG00000100196|transmembrane_region:Transmembrane_region|ENST00000216014|protein_coding|2/5|c.227A>G||||||,G|sequence_feature|LOW|KDELR3|ENSG00000100196|transmembrane_region:Transmembrane_region|ENST00000216014|protein_coding|3/5|c.227A>G||||||,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding||c.*2296T>C|||||3813|,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000444597|protein_coding||c.*1158T>C|||||3837|,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding||c.*2299T>C|||||3837|,G|non_coding_exon_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000471268|processed_transcript|3/5|n.166A>G|||||| 22 38875653 . G T . . ANN=T|missense_variant|MODERATE|KDELR3|ENSG00000100196|transcript|ENST00000409006|protein_coding|3/4|c.248G>T|p.Arg83Leu|404/931|248/663|83/220||,T|missense_variant|MODERATE|KDELR3|ENSG00000100196|transcript|ENST00000216014|protein_coding|3/5|c.248G>T|p.Arg83Leu|420/1728|248/645|83/214||,T|sequence_feature|LOW|KDELR3|ENSG00000100196|topological_domain:Cytoplasmic|ENST00000409006|protein_coding|3/4|c.248G>T||||||,T|sequence_feature|LOW|KDELR3|ENSG00000100196|topological_domain:Cytoplasmic|ENST00000216014|protein_coding|3/5|c.248G>T||||||,T|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding||c.*2296C>A|||||3792|,T|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000444597|protein_coding||c.*1158C>A|||||3816|,T|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding||c.*2299C>A|||||3816|,T|non_coding_exon_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000471268|processed_transcript|3/5|n.187G>T|||||| 22 38875664 . G A . . ANN=A|missense_variant|MODERATE|KDELR3|ENSG00000100196|transcript|ENST00000409006|protein_coding|3/4|c.259G>A|p.Asp87Asn|415/931|259/663|87/220||,A|missense_variant|MODERATE|KDELR3|ENSG00000100196|transcript|ENST00000216014|protein_coding|3/5|c.259G>A|p.Asp87Asn|431/1728|259/645|87/214||,A|sequence_feature|LOW|KDELR3|ENSG00000100196|topological_domain:Cytoplasmic|ENST00000409006|protein_coding|3/4|c.259G>A||||||,A|sequence_feature|LOW|KDELR3|ENSG00000100196|topological_domain:Cytoplasmic|ENST00000216014|protein_coding|3/5|c.259G>A||||||,A|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding||c.*2296C>T|||||3781|,A|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000444597|protein_coding||c.*1158C>T|||||3805|,A|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding||c.*2299C>T|||||3805|,A|non_coding_exon_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000471268|processed_transcript|3/5|n.198G>A|||||| 22 38875729 . T C . . ANN=C|synonymous_variant|LOW|KDELR3|ENSG00000100196|transcript|ENST00000409006|protein_coding|3/4|c.324T>C|p.Leu108Leu|480/931|324/663|108/220||,C|synonymous_variant|LOW|KDELR3|ENSG00000100196|transcript|ENST00000216014|protein_coding|3/5|c.324T>C|p.Leu108Leu|496/1728|324/645|108/214||,C|sequence_feature|LOW|KDELR3|ENSG00000100196|transmembrane_region:Transmembrane_region|ENST00000409006|protein_coding|3/4|c.324T>C||||||,C|sequence_feature|LOW|KDELR3|ENSG00000100196|transmembrane_region:Transmembrane_region|ENST00000216014|protein_coding|3/5|c.324T>C||||||,C|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding||c.*2296A>G|||||3716|,C|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000444597|protein_coding||c.*1158A>G|||||3740|,C|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding||c.*2299A>G|||||3740|,C|non_coding_exon_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000471268|processed_transcript|3/5|n.263T>C|||||| 22 38875735 . C A . . ANN=A|missense_variant|MODERATE|KDELR3|ENSG00000100196|transcript|ENST00000409006|protein_coding|3/4|c.330C>A|p.Asn110Lys|486/931|330/663|110/220||,A|missense_variant|MODERATE|KDELR3|ENSG00000100196|transcript|ENST00000216014|protein_coding|3/5|c.330C>A|p.Asn110Lys|502/1728|330/645|110/214||,A|sequence_feature|LOW|KDELR3|ENSG00000100196|transmembrane_region:Transmembrane_region|ENST00000409006|protein_coding|3/4|c.330C>A||||||,A|sequence_feature|LOW|KDELR3|ENSG00000100196|transmembrane_region:Transmembrane_region|ENST00000216014|protein_coding|3/5|c.330C>A||||||,A|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding||c.*2296G>T|||||3710|,A|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000444597|protein_coding||c.*1158G>T|||||3734|,A|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding||c.*2299G>T|||||3734|,A|non_coding_exon_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000471268|processed_transcript|3/5|n.269C>A|||||| 22 38875736 . TAC T . . ANN=|frameshift_variant|HIGH|KDELR3|ENSG00000100196|transcript|ENST00000409006|protein_coding|3/4|c.333_334delCA|p.Tyr111fs|489/931|333/663|111/220||INFO_REALIGN_3_PRIME,|frameshift_variant|HIGH|KDELR3|ENSG00000100196|transcript|ENST00000216014|protein_coding|3/5|c.333_334delCA|p.Tyr111fs|505/1728|333/645|111/214||INFO_REALIGN_3_PRIME,|sequence_feature|LOW|KDELR3|ENSG00000100196|topological_domain:Lumenal|ENST00000409006|protein_coding|3/4|c.332_333delAC||||||,|sequence_feature|LOW|KDELR3|ENSG00000100196|topological_domain:Lumenal|ENST00000216014|protein_coding|3/5|c.332_333delAC||||||,|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding||c.*2296_*2296delGT|||||3708|,|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000444597|protein_coding||c.*1158_*1158delGT|||||3732|,|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding||c.*2299_*2299delGT|||||3732|,|non_coding_exon_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000471268|processed_transcript|3/5|n.272_273delCA||||||INFO_REALIGN_3_PRIME;LOF=(KDELR3|ENSG00000100196|3|0.67) 22 38875806 . C G . . ANN=G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding||c.*2296G>C|||||3639|,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000444597|protein_coding||c.*1158G>C|||||3663|,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding||c.*2299G>C|||||3663|,G|intron_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000409006|protein_coding|3/3|c.351+50C>G||||||,G|intron_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000216014|protein_coding|3/4|c.351+50C>G||||||,G|intron_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000471268|processed_transcript|3/4|n.290+50C>G|||||| 22 38877179 . G A . . ANN=A|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding||c.*2296C>T|||||2266|,A|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000444597|protein_coding||c.*1158C>T|||||2290|,A|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding||c.*2299C>T|||||2290|,A|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000431312|retained_intron||n.*1853C>T|||||4503|,A|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000216019|retained_intron||n.*6441C>T|||||4507|,A|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000403230|protein_coding||c.*2265C>T|||||4704|,A|intron_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000409006|protein_coding|3/3|c.352-38G>A||||||,A|intron_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000216014|protein_coding|3/4|c.352-38G>A||||||,A|intron_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000471268|processed_transcript|3/4|n.291-38G>A|||||| 22 38877184 . G T . . ANN=T|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding||c.*2296C>A|||||2261|,T|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000444597|protein_coding||c.*1158C>A|||||2285|,T|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding||c.*2299C>A|||||2285|,T|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000431312|retained_intron||n.*1853C>A|||||4498|,T|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000216019|retained_intron||n.*6441C>A|||||4502|,T|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000403230|protein_coding||c.*2265C>A|||||4699|,T|intron_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000409006|protein_coding|3/3|c.352-33G>T||||||,T|intron_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000216014|protein_coding|3/4|c.352-33G>T||||||,T|intron_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000471268|processed_transcript|3/4|n.291-33G>T|||||| 22 38877231 . C A . . ANN=A|missense_variant|MODERATE|KDELR3|ENSG00000100196|transcript|ENST00000409006|protein_coding|4/4|c.366C>A|p.Phe122Leu|522/931|366/663|122/220||,A|missense_variant|MODERATE|KDELR3|ENSG00000100196|transcript|ENST00000216014|protein_coding|4/5|c.366C>A|p.Phe122Leu|538/1728|366/645|122/214||,A|sequence_feature|LOW|KDELR3|ENSG00000100196|transmembrane_region:Transmembrane_region|ENST00000409006|protein_coding|4/4|c.366C>A||||||,A|sequence_feature|LOW|KDELR3|ENSG00000100196|transmembrane_region:Transmembrane_region|ENST00000216014|protein_coding|4/5|c.366C>A||||||,A|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding||c.*2296G>T|||||2214|,A|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000444597|protein_coding||c.*1158G>T|||||2238|,A|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding||c.*2299G>T|||||2238|,A|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000431312|retained_intron||n.*1853G>T|||||4451|,A|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000216019|retained_intron||n.*6441G>T|||||4455|,A|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000403230|protein_coding||c.*2265G>T|||||4652|,A|non_coding_exon_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000471268|processed_transcript|4/5|n.305C>A|||||| 22 38877251 . T G . . ANN=G|missense_variant|MODERATE|KDELR3|ENSG00000100196|transcript|ENST00000409006|protein_coding|4/4|c.386T>G|p.Val129Gly|542/931|386/663|129/220||,G|missense_variant|MODERATE|KDELR3|ENSG00000100196|transcript|ENST00000216014|protein_coding|4/5|c.386T>G|p.Val129Gly|558/1728|386/645|129/214||,G|sequence_feature|LOW|KDELR3|ENSG00000100196|transmembrane_region:Transmembrane_region|ENST00000409006|protein_coding|4/4|c.386T>G||||||,G|sequence_feature|LOW|KDELR3|ENSG00000100196|transmembrane_region:Transmembrane_region|ENST00000216014|protein_coding|4/5|c.386T>G||||||,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding||c.*2296A>C|||||2194|,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000444597|protein_coding||c.*1158A>C|||||2218|,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding||c.*2299A>C|||||2218|,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000431312|retained_intron||n.*1853A>C|||||4431|,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000216019|retained_intron||n.*6441A>C|||||4435|,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000403230|protein_coding||c.*2265A>C|||||4632|,G|non_coding_exon_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000471268|processed_transcript|4/5|n.325T>G|||||| 22 38877304 . A G . . ANN=G|missense_variant|MODERATE|KDELR3|ENSG00000100196|transcript|ENST00000409006|protein_coding|4/4|c.439A>G|p.Ile147Val|595/931|439/663|147/220||,G|missense_variant|MODERATE|KDELR3|ENSG00000100196|transcript|ENST00000216014|protein_coding|4/5|c.439A>G|p.Ile147Val|611/1728|439/645|147/214||,G|sequence_feature|LOW|KDELR3|ENSG00000100196|topological_domain:Cytoplasmic|ENST00000409006|protein_coding|4/4|c.439A>G||||||,G|sequence_feature|LOW|KDELR3|ENSG00000100196|topological_domain:Cytoplasmic|ENST00000216014|protein_coding|4/5|c.439A>G||||||,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding||c.*2296T>C|||||2141|,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000444597|protein_coding||c.*1158T>C|||||2165|,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding||c.*2299T>C|||||2165|,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000431312|retained_intron||n.*1853T>C|||||4378|,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000216019|retained_intron||n.*6441T>C|||||4382|,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000403230|protein_coding||c.*2265T>C|||||4579|,G|non_coding_exon_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000471268|processed_transcript|4/5|n.378A>G|||||| 22 38877461 . T G . . ANN=G|missense_variant|MODERATE|KDELR3|ENSG00000100196|transcript|ENST00000409006|protein_coding|4/4|c.596T>G|p.Val199Gly|752/931|596/663|199/220||,G|missense_variant|MODERATE|KDELR3|ENSG00000100196|transcript|ENST00000216014|protein_coding|4/5|c.596T>G|p.Val199Gly|768/1728|596/645|199/214||,G|sequence_feature|LOW|KDELR3|ENSG00000100196|transmembrane_region:Transmembrane_region|ENST00000409006|protein_coding|4/4|c.596T>G||||||,G|sequence_feature|LOW|KDELR3|ENSG00000100196|transmembrane_region:Transmembrane_region|ENST00000216014|protein_coding|4/5|c.596T>G||||||,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding||c.*2296A>C|||||1984|,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000444597|protein_coding||c.*1158A>C|||||2008|,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding||c.*2299A>C|||||2008|,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000431312|retained_intron||n.*1853A>C|||||4221|,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000216019|retained_intron||n.*6441A>C|||||4225|,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000403230|protein_coding||c.*2265A>C|||||4422|,G|non_coding_exon_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000471268|processed_transcript|4/5|n.535T>G|||||| 22 38881951 . A G . . ANN=G|missense_variant|MODERATE|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding|13/13|c.2185T>C|p.Ser729Pro|2285/4791|2185/2196|729/731||,G|missense_variant|MODERATE|DDX17|ENSG00000100201|transcript|ENST00000444597|protein_coding|2/2|c.535T>C|p.Ser179Pro|1147/3629|535/546|179/181||,G|missense_variant|MODERATE|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding|14/14|c.1948T>C|p.Ser650Pro|2288/4770|1948/1959|650/652||,G|missense_variant|MODERATE|DDX17|ENSG00000100201|transcript|ENST00000403230|protein_coding|13/13|c.2179T>C|p.Ser727Pro|2254/2322|2179/2190|727/729||,G|downstream_gene_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000409006|protein_coding||c.*819A>G|||||4311|,G|downstream_gene_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000216014|protein_coding||c.*817A>G|||||2499|,G|downstream_gene_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000471268|processed_transcript||n.*970A>G|||||3024|,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000475004|processed_transcript||n.*404T>C|||||3231|,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000432525|processed_transcript||n.*1354T>C|||||4367|,G|non_coding_exon_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000431312|retained_intron|2/2|n.1584T>C||||||,G|non_coding_exon_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000216019|retained_intron|12/12|n.6176T>C|||||| 22 38881979 . G A . . ANN=A|synonymous_variant|LOW|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding|13/13|c.2157C>T|p.Tyr719Tyr|2257/4791|2157/2196|719/731||,A|synonymous_variant|LOW|DDX17|ENSG00000100201|transcript|ENST00000444597|protein_coding|2/2|c.507C>T|p.Tyr169Tyr|1119/3629|507/546|169/181||,A|synonymous_variant|LOW|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding|14/14|c.1920C>T|p.Tyr640Tyr|2260/4770|1920/1959|640/652||,A|synonymous_variant|LOW|DDX17|ENSG00000100201|transcript|ENST00000403230|protein_coding|13/13|c.2151C>T|p.Tyr717Tyr|2226/2322|2151/2190|717/729||,A|downstream_gene_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000409006|protein_coding||c.*819G>A|||||4339|,A|downstream_gene_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000216014|protein_coding||c.*817G>A|||||2527|,A|downstream_gene_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000471268|processed_transcript||n.*970G>A|||||3052|,A|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000475004|processed_transcript||n.*404C>T|||||3203|,A|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000432525|processed_transcript||n.*1354C>T|||||4339|,A|non_coding_exon_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000431312|retained_intron|2/2|n.1556C>T||||||,A|non_coding_exon_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000216019|retained_intron|12/12|n.6148C>T|||||| 22 38882027 . C T . . ANN=T|synonymous_variant|LOW|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding|13/13|c.2109G>A|p.Pro703Pro|2209/4791|2109/2196|703/731||,T|synonymous_variant|LOW|DDX17|ENSG00000100201|transcript|ENST00000444597|protein_coding|2/2|c.459G>A|p.Pro153Pro|1071/3629|459/546|153/181||,T|synonymous_variant|LOW|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding|14/14|c.1872G>A|p.Pro624Pro|2212/4770|1872/1959|624/652||,T|synonymous_variant|LOW|DDX17|ENSG00000100201|transcript|ENST00000403230|protein_coding|13/13|c.2103G>A|p.Pro701Pro|2178/2322|2103/2190|701/729||,T|downstream_gene_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000409006|protein_coding||c.*819C>T|||||4387|,T|downstream_gene_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000216014|protein_coding||c.*817C>T|||||2575|,T|downstream_gene_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000471268|processed_transcript||n.*970C>T|||||3100|,T|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000475004|processed_transcript||n.*404G>A|||||3155|,T|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000432525|processed_transcript||n.*1354G>A|||||4291|,T|non_coding_exon_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000431312|retained_intron|2/2|n.1508G>A||||||,T|non_coding_exon_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000216019|retained_intron|12/12|n.6100G>A|||||| 22 38882187 . C G . . ANN=G|missense_variant|MODERATE|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding|13/13|c.1949G>C|p.Ser650Thr|2049/4791|1949/2196|650/731||,G|missense_variant|MODERATE|DDX17|ENSG00000100201|transcript|ENST00000444597|protein_coding|2/2|c.299G>C|p.Ser100Thr|911/3629|299/546|100/181||,G|missense_variant|MODERATE|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding|14/14|c.1712G>C|p.Ser571Thr|2052/4770|1712/1959|571/652||,G|missense_variant|MODERATE|DDX17|ENSG00000100201|transcript|ENST00000403230|protein_coding|13/13|c.1943G>C|p.Ser648Thr|2018/2322|1943/2190|648/729||,G|downstream_gene_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000409006|protein_coding||c.*819C>G|||||4547|,G|downstream_gene_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000216014|protein_coding||c.*817C>G|||||2735|,G|downstream_gene_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000471268|processed_transcript||n.*970C>G|||||3260|,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000475004|processed_transcript||n.*404G>C|||||2995|,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000432525|processed_transcript||n.*1354G>C|||||4131|,G|non_coding_exon_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000431312|retained_intron|2/2|n.1348G>C||||||,G|non_coding_exon_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000216019|retained_intron|12/12|n.5940G>C|||||| 22 38882277 . C T . . ANN=T|missense_variant|MODERATE|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding|13/13|c.1859G>A|p.Gly620Asp|1959/4791|1859/2196|620/731||,T|missense_variant|MODERATE|DDX17|ENSG00000100201|transcript|ENST00000444597|protein_coding|2/2|c.209G>A|p.Gly70Asp|821/3629|209/546|70/181||,T|missense_variant|MODERATE|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding|14/14|c.1622G>A|p.Gly541Asp|1962/4770|1622/1959|541/652||,T|missense_variant|MODERATE|DDX17|ENSG00000100201|transcript|ENST00000403230|protein_coding|13/13|c.1853G>A|p.Gly618Asp|1928/2322|1853/2190|618/729||,T|downstream_gene_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000409006|protein_coding||c.*819C>T|||||4637|,T|downstream_gene_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000216014|protein_coding||c.*817C>T|||||2825|,T|downstream_gene_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000471268|processed_transcript||n.*970C>T|||||3350|,T|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000475004|processed_transcript||n.*404G>A|||||2905|,T|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000432525|processed_transcript||n.*1354G>A|||||4041|,T|non_coding_exon_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000431312|retained_intron|2/2|n.1258G>A||||||,T|non_coding_exon_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000216019|retained_intron|12/12|n.5850G>A|||||| 22 38882330 . T C . . ANN=C|synonymous_variant|LOW|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding|13/13|c.1806A>G|p.Ala602Ala|1906/4791|1806/2196|602/731||,C|synonymous_variant|LOW|DDX17|ENSG00000100201|transcript|ENST00000444597|protein_coding|2/2|c.156A>G|p.Ala52Ala|768/3629|156/546|52/181||,C|synonymous_variant|LOW|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding|14/14|c.1569A>G|p.Ala523Ala|1909/4770|1569/1959|523/652||,C|synonymous_variant|LOW|DDX17|ENSG00000100201|transcript|ENST00000403230|protein_coding|13/13|c.1800A>G|p.Ala600Ala|1875/2322|1800/2190|600/729||,C|downstream_gene_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000409006|protein_coding||c.*819T>C|||||4690|,C|downstream_gene_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000216014|protein_coding||c.*817T>C|||||2878|,C|downstream_gene_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000471268|processed_transcript||n.*970T>C|||||3403|,C|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000475004|processed_transcript||n.*404A>G|||||2852|,C|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000432525|processed_transcript||n.*1354A>G|||||3988|,C|non_coding_exon_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000431312|retained_intron|2/2|n.1205A>G||||||,C|non_coding_exon_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000216019|retained_intron|12/12|n.5797A>G|||||| 22 38883834 . G A . . ANN=A|downstream_gene_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000216014|protein_coding||c.*817G>A|||||4382|,A|downstream_gene_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000471268|processed_transcript||n.*970G>A|||||4907|,A|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000475004|processed_transcript||n.*404C>T|||||1348|,A|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000432525|processed_transcript||n.*1354C>T|||||2484|,A|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding|12/12|c.1690+44C>T||||||,A|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000444597|protein_coding|1/1|c.40+50C>T||||||,A|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding|13/13|c.1453+50C>T||||||,A|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000431312|retained_intron|1/1|n.1089+44C>T||||||,A|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000216019|retained_intron|11/11|n.5681+50C>T||||||,A|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000403230|protein_coding|12/12|c.1684+50C>T|||||| 22 38883854 . T C . . ANN=C|downstream_gene_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000216014|protein_coding||c.*817T>C|||||4402|,C|downstream_gene_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000471268|processed_transcript||n.*970T>C|||||4927|,C|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000475004|processed_transcript||n.*404A>G|||||1328|,C|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000432525|processed_transcript||n.*1354A>G|||||2464|,C|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding|12/12|c.1690+24A>G||||||,C|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000444597|protein_coding|1/1|c.40+30A>G||||||,C|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding|13/13|c.1453+30A>G||||||,C|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000431312|retained_intron|1/1|n.1089+24A>G||||||,C|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000216019|retained_intron|11/11|n.5681+30A>G||||||,C|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000403230|protein_coding|12/12|c.1684+30A>G|||||| 22 38883900 . T G . . ANN=G|synonymous_variant|LOW|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding|12/13|c.1668A>C|p.Gly556Gly|1768/4791|1668/2196|556/731||,G|synonymous_variant|LOW|DDX17|ENSG00000100201|transcript|ENST00000444597|protein_coding|1/2|c.24A>C|p.Gly8Gly|636/3629|24/546|8/181||,G|synonymous_variant|LOW|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding|13/14|c.1437A>C|p.Gly479Gly|1777/4770|1437/1959|479/652||,G|synonymous_variant|LOW|DDX17|ENSG00000100201|transcript|ENST00000403230|protein_coding|12/13|c.1668A>C|p.Gly556Gly|1743/2322|1668/2190|556/729||,G|downstream_gene_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000216014|protein_coding||c.*817T>G|||||4448|,G|downstream_gene_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000471268|processed_transcript||n.*970T>G|||||4973|,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000475004|processed_transcript||n.*404A>C|||||1282|,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000432525|processed_transcript||n.*1354A>C|||||2418|,G|non_coding_exon_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000431312|retained_intron|1/2|n.1067A>C||||||,G|non_coding_exon_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000216019|retained_intron|11/12|n.5665A>C|||||| 22 38884017 . G T . . ANN=T|synonymous_variant|LOW|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding|12/13|c.1551C>A|p.Thr517Thr|1651/4791|1551/2196|517/731||,T|synonymous_variant|LOW|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding|13/14|c.1320C>A|p.Thr440Thr|1660/4770|1320/1959|440/652||,T|synonymous_variant|LOW|DDX17|ENSG00000100201|transcript|ENST00000403230|protein_coding|12/13|c.1551C>A|p.Thr517Thr|1626/2322|1551/2190|517/729||,T|5_prime_UTR_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000444597|protein_coding|1/2|c.-94C>A|||||94|,T|downstream_gene_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000216014|protein_coding||c.*817G>T|||||4565|,T|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000475004|processed_transcript||n.*404C>A|||||1165|,T|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000432525|processed_transcript||n.*1354C>A|||||2301|,T|non_coding_exon_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000431312|retained_intron|1/2|n.950C>A||||||,T|non_coding_exon_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000216019|retained_intron|11/12|n.5548C>A|||||| 22 38888027 . T C . . ANN=C|upstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000444597|protein_coding||c.-613A>G|||||3492|,C|upstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000431312|retained_intron||n.-1A>G|||||3061|,C|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000497196|retained_intron||n.*856A>G|||||1339|,C|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000477112|retained_intron||n.*654A>G|||||2288|,C|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding|11/12|c.1447+34A>G||||||,C|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding|11/13|c.1214+30A>G||||||,C|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000403230|protein_coding|11/12|c.1447+34A>G||||||,C|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000475004|processed_transcript|2/2|n.122+34A>G||||||,C|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000432525|processed_transcript|11/11|n.1230+34A>G||||||,C|non_coding_exon_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000216019|retained_intron|11/12|n.1538A>G|||||| 22 38888154 . G A . . ANN=A|upstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000444597|protein_coding||c.-613C>T|||||3619|,A|upstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000431312|retained_intron||n.-1C>T|||||3188|,A|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000497196|retained_intron||n.*856C>T|||||1212|,A|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000477112|retained_intron||n.*654C>T|||||2161|,A|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding|10/12|c.1388-34C>T||||||,A|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding|10/13|c.1151-34C>T||||||,A|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000216019|retained_intron|10/11|n.1445-34C>T||||||,A|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000403230|protein_coding|10/12|c.1388-34C>T||||||,A|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000475004|processed_transcript|1/2|n.63-34C>T||||||,A|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000432525|processed_transcript|10/11|n.1171-34C>T|||||| 22 38888166 . A G . . ANN=G|upstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000444597|protein_coding||c.-613T>C|||||3631|,G|upstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000431312|retained_intron||n.-1T>C|||||3200|,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000497196|retained_intron||n.*856T>C|||||1200|,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000477112|retained_intron||n.*654T>C|||||2149|,G|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding|10/12|c.1388-46T>C||||||,G|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding|10/13|c.1151-46T>C||||||,G|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000216019|retained_intron|10/11|n.1445-46T>C||||||,G|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000403230|protein_coding|10/12|c.1388-46T>C||||||,G|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000475004|processed_transcript|1/2|n.63-46T>C||||||,G|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000432525|processed_transcript|10/11|n.1171-46T>C|||||| 22 38889672 . A AG . . ANN=G|upstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000431312|retained_intron||n.-1dupC|||||4707|,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000477112|retained_intron||n.*654dupC|||||642|,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000467279|processed_transcript||n.*712dupC|||||4885|,G|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding|10/12|c.1387+42dupC||||||,G|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding|10/13|c.1150+42dupC||||||,G|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000216019|retained_intron|10/11|n.1444+42dupC||||||,G|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000403230|protein_coding|10/12|c.1387+42dupC||||||,G|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000475004|processed_transcript|1/2|n.62+42dupC||||||,G|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000432525|processed_transcript|10/11|n.1170+42dupC||||||,G|non_coding_exon_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000497196|retained_intron|4/4|n.549dupC|||||| 22 38890175 . GTTA G . . ANN=|upstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000475004|processed_transcript||n.-1_-1delTAA|||||400|,|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000477112|retained_intron||n.*654_*654delTAA|||||139|,|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000467279|processed_transcript||n.*712_*712delTAA|||||4382|,|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding|8/12|c.1215-42_1215-40delTAA||||||,|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding|8/13|c.978-42_978-40delTAA||||||,|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000216019|retained_intron|8/11|n.1272-42_1272-40delTAA||||||,|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000403230|protein_coding|8/12|c.1215-42_1215-40delTAA||||||,|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000432525|processed_transcript|8/11|n.998-42_998-40delTAA||||||,|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000497196|retained_intron|2/3|n.335-42_335-40delTAA|||||| 22 38891022 . G A . . ANN=A|missense_variant|MODERATE|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding|7/13|c.910C>T|p.Arg304Cys|1010/4791|910/2196|304/731||,A|missense_variant|MODERATE|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding|7/14|c.673C>T|p.Arg225Cys|1013/4770|673/1959|225/652||,A|missense_variant|MODERATE|DDX17|ENSG00000100201|transcript|ENST00000403230|protein_coding|7/13|c.910C>T|p.Arg304Cys|985/2322|910/2190|304/729||,A|upstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000475004|processed_transcript||n.-1C>T|||||1246|,A|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000467279|processed_transcript||n.*712C>T|||||3536|,A|non_coding_exon_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000216019|retained_intron|7/12|n.967C>T||||||,A|non_coding_exon_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000432525|processed_transcript|7/12|n.693C>T||||||,A|non_coding_exon_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000497196|retained_intron|1/4|n.30C>T||||||,A|non_coding_exon_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000477112|retained_intron|1/2|n.30C>T|||||| 22 38891038 . G A . . ANN=A|synonymous_variant|LOW|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding|7/13|c.894C>T|p.Cys298Cys|994/4791|894/2196|298/731||,A|synonymous_variant|LOW|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding|7/14|c.657C>T|p.Cys219Cys|997/4770|657/1959|219/652||,A|synonymous_variant|LOW|DDX17|ENSG00000100201|transcript|ENST00000403230|protein_coding|7/13|c.894C>T|p.Cys298Cys|969/2322|894/2190|298/729||,A|upstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000475004|processed_transcript||n.-1C>T|||||1262|,A|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000467279|processed_transcript||n.*712C>T|||||3520|,A|non_coding_exon_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000216019|retained_intron|7/12|n.951C>T||||||,A|non_coding_exon_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000432525|processed_transcript|7/12|n.677C>T||||||,A|non_coding_exon_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000497196|retained_intron|1/4|n.14C>T||||||,A|non_coding_exon_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000477112|retained_intron|1/2|n.14C>T|||||| 22 38891767 . AAACT A . . ANN=|upstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000475004|processed_transcript||n.-1_-1delAGTT|||||1992|,|upstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000497196|retained_intron||n.-1_-1delAGTT|||||717|,|upstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000477112|retained_intron||n.-1_-1delAGTT|||||717|,|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000467279|processed_transcript||n.*712_*712delAGTT|||||2790|,|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding|6/12|c.880+30_880+33delAGTT||||||,|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding|6/13|c.643+30_643+33delAGTT||||||,|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000216019|retained_intron|6/11|n.937+30_937+33delAGTT||||||,|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000403230|protein_coding|6/12|c.880+30_880+33delAGTT||||||,|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000432525|processed_transcript|6/11|n.663+30_663+33delAGTT|||||| 22 38891981 . G GT . . ANN=T|upstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000475004|processed_transcript||n.-1dupA|||||2206|,T|upstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000497196|retained_intron||n.-1dupA|||||931|,T|upstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000477112|retained_intron||n.-1dupA|||||931|,T|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000467279|processed_transcript||n.*712dupA|||||2576|,T|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding|5/12|c.739-40dupA||||||,T|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding|5/13|c.502-40dupA||||||,T|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000216019|retained_intron|5/11|n.796-40dupA||||||,T|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000403230|protein_coding|5/12|c.739-40dupA||||||,T|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000432525|processed_transcript|5/11|n.522-40dupA|||||| 22 38894182 . C T . . ANN=T|upstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000475004|processed_transcript||n.-1G>A|||||4406|,T|upstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000497196|retained_intron||n.-1G>A|||||3131|,T|upstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000477112|retained_intron||n.-1G>A|||||3131|,T|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000467279|processed_transcript||n.*712G>A|||||376|,T|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding|4/12|c.673-27G>A||||||,T|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding|4/13|c.436-27G>A||||||,T|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000216019|retained_intron|4/11|n.730-27G>A||||||,T|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000403230|protein_coding|4/12|c.673-27G>A||||||,T|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000432525|processed_transcript|4/11|n.456-27G>A|||||| 22 38894186 . C T . . ANN=T|upstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000475004|processed_transcript||n.-1G>A|||||4410|,T|upstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000497196|retained_intron||n.-1G>A|||||3135|,T|upstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000477112|retained_intron||n.-1G>A|||||3135|,T|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000467279|processed_transcript||n.*712G>A|||||372|,T|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding|4/12|c.673-31G>A||||||,T|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding|4/13|c.436-31G>A||||||,T|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000216019|retained_intron|4/11|n.730-31G>A||||||,T|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000403230|protein_coding|4/12|c.673-31G>A||||||,T|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000432525|processed_transcript|4/11|n.456-31G>A|||||| 22 38895386 . T C . . ANN=C|upstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000497196|retained_intron||n.-1A>G|||||4335|,C|upstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000477112|retained_intron||n.-1A>G|||||4335|,C|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding|3/12|c.538+19A>G||||||,C|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding|3/13|c.301+19A>G||||||,C|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000216019|retained_intron|3/11|n.595+19A>G||||||,C|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000403230|protein_coding|3/12|c.538+19A>G||||||,C|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000432525|processed_transcript|3/11|n.321+19A>G||||||,C|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000467279|processed_transcript|3/3|n.691+19A>G|||||| 22 38895460 . C T . . ANN=T|synonymous_variant|LOW|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding|3/13|c.483G>A|p.Arg161Arg|583/4791|483/2196|161/731||,T|synonymous_variant|LOW|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding|3/14|c.246G>A|p.Arg82Arg|586/4770|246/1959|82/652||,T|synonymous_variant|LOW|DDX17|ENSG00000100201|transcript|ENST00000403230|protein_coding|3/13|c.483G>A|p.Arg161Arg|558/2322|483/2190|161/729||,T|upstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000497196|retained_intron||n.-1G>A|||||4409|,T|upstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000477112|retained_intron||n.-1G>A|||||4409|,T|non_coding_exon_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000216019|retained_intron|3/12|n.540G>A||||||,T|non_coding_exon_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000432525|processed_transcript|3/12|n.266G>A||||||,T|non_coding_exon_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000467279|processed_transcript|3/4|n.636G>A|||||| 22 38895521 . AAAG A . . ANN=|upstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000497196|retained_intron||n.-1_-1delCTT|||||4471|,|upstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000477112|retained_intron||n.-1_-1delCTT|||||4471|,|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding|2/12|c.439-20_439-18delCTT||||||,|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding|2/13|c.202-20_202-18delCTT||||||,|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000216019|retained_intron|2/11|n.496-20_496-18delCTT||||||,|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000403230|protein_coding|2/12|c.439-20_439-18delCTT||||||,|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000432525|processed_transcript|2/11|n.222-20_222-18delCTT||||||,|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000467279|processed_transcript|2/3|n.592-20_592-18delCTT|||||| 22 38897156 . C T . . ANN=T|synonymous_variant|LOW|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding|2/13|c.417G>A|p.Pro139Pro|517/4791|417/2196|139/731||,T|synonymous_variant|LOW|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding|2/14|c.180G>A|p.Pro60Pro|520/4770|180/1959|60/652||,T|synonymous_variant|LOW|DDX17|ENSG00000100201|transcript|ENST00000403230|protein_coding|2/13|c.417G>A|p.Pro139Pro|492/2322|417/2190|139/729||,T|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000479734|processed_transcript||n.*441G>A|||||4014|,T|non_coding_exon_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000216019|retained_intron|2/12|n.474G>A||||||,T|non_coding_exon_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000432525|processed_transcript|2/12|n.200G>A||||||,T|non_coding_exon_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000467279|processed_transcript|2/4|n.570G>A|||||| 22 38897319 . T C . . ANN=C|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000479734|processed_transcript||n.*441A>G|||||3851|,C|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding|1/12|c.288-34A>G||||||,C|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding|1/13|c.51-34A>G||||||,C|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000216019|retained_intron|1/11|n.345-34A>G||||||,C|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000403230|protein_coding|1/12|c.288-34A>G||||||,C|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000432525|processed_transcript|1/11|n.71-34A>G||||||,C|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000467279|processed_transcript|1/3|n.441-34A>G|||||| 22 38902052 . C G . . ANN=G|missense_variant|MODERATE|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding|1/13|c.191G>C|p.Ser64Thr|291/4791|191/2196|64/731||,G|missense_variant|MODERATE|DDX17|ENSG00000100201|transcript|ENST00000403230|protein_coding|1/13|c.191G>C|p.Ser64Thr|266/2322|191/2190|64/729||,G|5_prime_UTR_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding|1/14|c.-47G>C|||||47|,G|upstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000467279|processed_transcript||n.-1G>C|||||146|,G|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000432525|processed_transcript|1/11|n.70+1544G>C||||||,G|non_coding_exon_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000216019|retained_intron|1/12|n.248G>C||||||,G|non_coding_exon_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000479734|processed_transcript|1/2|n.260G>C|||||| 22 38902067 . G A . . ANN=A|missense_variant|MODERATE|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding|1/13|c.176C>T|p.Pro59Leu|276/4791|176/2196|59/731||,A|missense_variant|MODERATE|DDX17|ENSG00000100201|transcript|ENST00000403230|protein_coding|1/13|c.176C>T|p.Pro59Leu|251/2322|176/2190|59/729||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding|1/14|c.-62C>T||||||,A|5_prime_UTR_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding|1/14|c.-62C>T|||||62|,A|upstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000467279|processed_transcript||n.-1C>T|||||161|,A|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000432525|processed_transcript|1/11|n.70+1529C>T||||||,A|non_coding_exon_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000216019|retained_intron|1/12|n.233C>T||||||,A|non_coding_exon_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000479734|processed_transcript|1/2|n.245C>T|||||| 22 38902217 . A G . . ANN=G|missense_variant|MODERATE|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding|1/13|c.26T>C|p.Ile9Thr|126/4791|26/2196|9/731||,G|missense_variant|MODERATE|DDX17|ENSG00000100201|transcript|ENST00000403230|protein_coding|1/13|c.26T>C|p.Ile9Thr|101/2322|26/2190|9/729||,G|5_prime_UTR_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding|1/14|c.-212T>C|||||212|,G|upstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000467279|processed_transcript||n.-1T>C|||||311|,G|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000432525|processed_transcript|1/11|n.70+1379T>C||||||,G|non_coding_exon_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000216019|retained_intron|1/12|n.83T>C||||||,G|non_coding_exon_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000479734|processed_transcript|1/2|n.95T>C|||||| 22 38915986 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000216024|protein_coding|14/14|c.*39G>A|||||39|,T|3_prime_UTR_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000428462|protein_coding|11/11|c.*39G>A|||||39| 22 38916076 . A G . . ANN=G|synonymous_variant|LOW|DMC1|ENSG00000100206|transcript|ENST00000216024|protein_coding|14/14|c.972T>C|p.Asn324Asn|1249/2371|972/1023|324/340||,G|synonymous_variant|LOW|DMC1|ENSG00000100206|transcript|ENST00000428462|protein_coding|11/11|c.807T>C|p.Asn269Asn|960/1056|807/858|269/285||,G|sequence_feature|LOW|DMC1|ENSG00000100206|helix|ENST00000216024|protein_coding|14/14|c.972T>C||||||,G|sequence_feature|LOW|DMC1|ENSG00000100206|helix|ENST00000428462|protein_coding|11/11|c.807T>C|||||| 22 38916130 . G A . . ANN=A|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000216024|protein_coding|13/13|c.954-36C>T||||||,A|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000428462|protein_coding|10/10|c.789-36C>T|||||| 22 38917703 . A G . . ANN=G|missense_variant|MODERATE|DMC1|ENSG00000100206|transcript|ENST00000216024|protein_coding|13/14|c.863T>C|p.Ile288Thr|1140/2371|863/1023|288/340||,G|missense_variant|MODERATE|DMC1|ENSG00000100206|transcript|ENST00000428462|protein_coding|10/11|c.698T>C|p.Ile233Thr|851/1056|698/858|233/285||,G|sequence_feature|LOW|DMC1|ENSG00000100206|beta_strand|ENST00000216024|protein_coding|13/14|c.863T>C||||||,G|sequence_feature|LOW|DMC1|ENSG00000100206|beta_strand|ENST00000428462|protein_coding|10/11|c.698T>C|||||| 22 38934299 . C T . . ANN=T|splice_donor_variant&intron_variant|HIGH|DMC1|ENSG00000100206|transcript|ENST00000216024|protein_coding|11/13|c.775+1G>A||||||,T|splice_donor_variant&intron_variant|HIGH|DMC1|ENSG00000100206|transcript|ENST00000428462|protein_coding|8/10|c.610+1G>A||||||,T|sequence_feature|LOW|DMC1|ENSG00000100206|helix|ENST00000216024|protein_coding|12/14|c.775+1G>A||||||,T|sequence_feature|LOW|DMC1|ENSG00000100206|helix|ENST00000216024|protein_coding|11/14|c.775+1G>A||||||,T|sequence_feature|LOW|DMC1|ENSG00000100206|helix|ENST00000428462|protein_coding|9/11|c.610+1G>A||||||,T|sequence_feature|LOW|DMC1|ENSG00000100206|helix|ENST00000428462|protein_coding|8/11|c.610+1G>A||||||,T|downstream_gene_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000439567|protein_coding||c.*721G>A|||||1|WARNING_TRANSCRIPT_INCOMPLETE;LOF=(DMC1|ENSG00000100206|6|0.33) 22 38934334 . G T . . ANN=T|synonymous_variant|LOW|DMC1|ENSG00000100206|transcript|ENST00000216024|protein_coding|11/14|c.741C>A|p.Ala247Ala|1018/2371|741/1023|247/340||,T|synonymous_variant|LOW|DMC1|ENSG00000100206|transcript|ENST00000428462|protein_coding|8/11|c.576C>A|p.Ala192Ala|729/1056|576/858|192/285||,T|synonymous_variant|LOW|DMC1|ENSG00000100206|transcript|ENST00000439567|protein_coding|9/9|c.576C>A|p.Ala192Ala|687/721|576/610|192/202||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|DMC1|ENSG00000100206|helix|ENST00000216024|protein_coding|12/14|c.741C>A||||||,T|sequence_feature|LOW|DMC1|ENSG00000100206|helix|ENST00000216024|protein_coding|11/14|c.741C>A||||||,T|sequence_feature|LOW|DMC1|ENSG00000100206|helix|ENST00000428462|protein_coding|9/11|c.576C>A||||||,T|sequence_feature|LOW|DMC1|ENSG00000100206|helix|ENST00000428462|protein_coding|8/11|c.576C>A|||||| 22 38934409 . G A . . ANN=A|synonymous_variant|LOW|DMC1|ENSG00000100206|transcript|ENST00000216024|protein_coding|11/14|c.666C>T|p.Ile222Ile|943/2371|666/1023|222/340||,A|synonymous_variant|LOW|DMC1|ENSG00000100206|transcript|ENST00000428462|protein_coding|8/11|c.501C>T|p.Ile167Ile|654/1056|501/858|167/285||,A|synonymous_variant|LOW|DMC1|ENSG00000100206|transcript|ENST00000439567|protein_coding|9/9|c.501C>T|p.Ile167Ile|612/721|501/610|167/202||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|DMC1|ENSG00000100206|beta_strand|ENST00000216024|protein_coding|10/14|c.666C>T||||||,A|sequence_feature|LOW|DMC1|ENSG00000100206|beta_strand|ENST00000216024|protein_coding|11/14|c.666C>T||||||,A|sequence_feature|LOW|DMC1|ENSG00000100206|beta_strand|ENST00000428462|protein_coding|7/11|c.501C>T||||||,A|sequence_feature|LOW|DMC1|ENSG00000100206|beta_strand|ENST00000428462|protein_coding|8/11|c.501C>T|||||| 22 38934461 . G A . . ANN=A|sequence_feature|LOW|DMC1|ENSG00000100206|beta_strand|ENST00000216024|protein_coding|10/14|c.661-47C>T||||||,A|sequence_feature|LOW|DMC1|ENSG00000100206|beta_strand|ENST00000216024|protein_coding|11/14|c.661-47C>T||||||,A|sequence_feature|LOW|DMC1|ENSG00000100206|beta_strand|ENST00000428462|protein_coding|7/11|c.496-47C>T||||||,A|sequence_feature|LOW|DMC1|ENSG00000100206|beta_strand|ENST00000428462|protein_coding|8/11|c.496-47C>T||||||,A|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000216024|protein_coding|10/13|c.661-47C>T||||||,A|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000428462|protein_coding|7/10|c.496-47C>T||||||,A|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000439567|protein_coding|8/8|c.496-47C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 38934497 . ATAT A . . ANN=|sequence_feature|LOW|DMC1|ENSG00000100206|beta_strand|ENST00000216024|protein_coding|10/14|c.660+44_660+46delATA||||||,|sequence_feature|LOW|DMC1|ENSG00000100206|beta_strand|ENST00000216024|protein_coding|11/14|c.660+44_660+46delATA||||||,|sequence_feature|LOW|DMC1|ENSG00000100206|beta_strand|ENST00000428462|protein_coding|7/11|c.495+44_495+46delATA||||||,|sequence_feature|LOW|DMC1|ENSG00000100206|beta_strand|ENST00000428462|protein_coding|8/11|c.495+44_495+46delATA||||||,|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000216024|protein_coding|10/13|c.660+44_660+46delATA||||||,|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000428462|protein_coding|7/10|c.495+44_495+46delATA||||||,|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000439567|protein_coding|8/8|c.495+44_495+46delATA||||||WARNING_TRANSCRIPT_INCOMPLETE 22 38934499 . A G . . ANN=G|sequence_feature|LOW|DMC1|ENSG00000100206|beta_strand|ENST00000216024|protein_coding|10/14|c.660+45T>C||||||,G|sequence_feature|LOW|DMC1|ENSG00000100206|beta_strand|ENST00000216024|protein_coding|11/14|c.660+45T>C||||||,G|sequence_feature|LOW|DMC1|ENSG00000100206|beta_strand|ENST00000428462|protein_coding|7/11|c.495+45T>C||||||,G|sequence_feature|LOW|DMC1|ENSG00000100206|beta_strand|ENST00000428462|protein_coding|8/11|c.495+45T>C||||||,G|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000216024|protein_coding|10/13|c.660+45T>C||||||,G|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000428462|protein_coding|7/10|c.495+45T>C||||||,G|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000439567|protein_coding|8/8|c.495+45T>C||||||WARNING_TRANSCRIPT_INCOMPLETE 22 38934515 . C G . . ANN=G|sequence_feature|LOW|DMC1|ENSG00000100206|beta_strand|ENST00000216024|protein_coding|10/14|c.660+29G>C||||||,G|sequence_feature|LOW|DMC1|ENSG00000100206|beta_strand|ENST00000216024|protein_coding|11/14|c.660+29G>C||||||,G|sequence_feature|LOW|DMC1|ENSG00000100206|beta_strand|ENST00000428462|protein_coding|7/11|c.495+29G>C||||||,G|sequence_feature|LOW|DMC1|ENSG00000100206|beta_strand|ENST00000428462|protein_coding|8/11|c.495+29G>C||||||,G|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000216024|protein_coding|10/13|c.660+29G>C||||||,G|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000428462|protein_coding|7/10|c.495+29G>C||||||,G|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000439567|protein_coding|8/8|c.495+29G>C||||||WARNING_TRANSCRIPT_INCOMPLETE 22 38934606 . T C . . ANN=C|missense_variant|MODERATE|DMC1|ENSG00000100206|transcript|ENST00000216024|protein_coding|10/14|c.598A>G|p.Met200Val|875/2371|598/1023|200/340||,C|missense_variant|MODERATE|DMC1|ENSG00000100206|transcript|ENST00000428462|protein_coding|7/11|c.433A>G|p.Met145Val|586/1056|433/858|145/285||,C|missense_variant|MODERATE|DMC1|ENSG00000100206|transcript|ENST00000439567|protein_coding|8/9|c.433A>G|p.Met145Val|544/721|433/610|145/202||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|DMC1|ENSG00000100206|helix|ENST00000216024|protein_coding|10/14|c.598A>G||||||,C|sequence_feature|LOW|DMC1|ENSG00000100206|helix|ENST00000216024|protein_coding|9/14|c.598A>G|||||| 22 38935297 . C T . . ANN=T|sequence_feature|LOW|DMC1|ENSG00000100206|helix|ENST00000216024|protein_coding|10/14|c.586+29G>A||||||,T|sequence_feature|LOW|DMC1|ENSG00000100206|helix|ENST00000216024|protein_coding|9/14|c.586+29G>A||||||,T|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000216024|protein_coding|9/13|c.586+29G>A||||||,T|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000428462|protein_coding|6/10|c.422-680G>A||||||,T|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000439567|protein_coding|7/8|c.422-680G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 38935313 . A G . . ANN=G|sequence_feature|LOW|DMC1|ENSG00000100206|helix|ENST00000216024|protein_coding|10/14|c.586+13T>C||||||,G|sequence_feature|LOW|DMC1|ENSG00000100206|helix|ENST00000216024|protein_coding|9/14|c.586+13T>C||||||,G|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000216024|protein_coding|9/13|c.586+13T>C||||||,G|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000428462|protein_coding|6/10|c.422-696T>C||||||,G|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000439567|protein_coding|7/8|c.422-696T>C||||||WARNING_TRANSCRIPT_INCOMPLETE 22 38935406 . C T . . ANN=T|missense_variant|MODERATE|DMC1|ENSG00000100206|transcript|ENST00000216024|protein_coding|9/14|c.506G>A|p.Arg169His|783/2371|506/1023|169/340||,T|sequence_feature|LOW|DMC1|ENSG00000100206|helix|ENST00000216024|protein_coding|9/14|c.506G>A||||||,T|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000428462|protein_coding|6/10|c.422-789G>A||||||,T|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000439567|protein_coding|7/8|c.422-789G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 38935427 . GCC G . . ANN=|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000216024|protein_coding|8/13|c.495-12_495-11delGG||||||,|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000428462|protein_coding|6/10|c.422-812_422-811delGG||||||,|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000439567|protein_coding|7/8|c.422-812_422-811delGG||||||WARNING_TRANSCRIPT_INCOMPLETE 22 38945896 . C G . . ANN=G|downstream_gene_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000415483|protein_coding||c.*569G>C|||||2780|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000216024|protein_coding|8/13|c.494+34G>C||||||,G|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000428462|protein_coding|6/10|c.421+2775G>C||||||,G|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000439567|protein_coding|7/8|c.421+2775G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000478820|retained_intron|8/8|n.703G>C|||||| 22 38945898 . A G . . ANN=G|downstream_gene_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000415483|protein_coding||c.*569T>C|||||2778|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000216024|protein_coding|8/13|c.494+32T>C||||||,G|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000428462|protein_coding|6/10|c.421+2773T>C||||||,G|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000439567|protein_coding|7/8|c.421+2773T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000478820|retained_intron|8/8|n.701T>C|||||| 22 38945975 . C T . . ANN=T|missense_variant|MODERATE|DMC1|ENSG00000100206|transcript|ENST00000216024|protein_coding|8/14|c.449G>A|p.Gly150Asp|726/2371|449/1023|150/340||,T|sequence_feature|LOW|DMC1|ENSG00000100206|helix|ENST00000216024|protein_coding|8/14|c.449G>A||||||,T|downstream_gene_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000415483|protein_coding||c.*569G>A|||||2701|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000428462|protein_coding|6/10|c.421+2696G>A||||||,T|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000439567|protein_coding|7/8|c.421+2696G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000478820|retained_intron|8/8|n.624G>A|||||| 22 38948761 . ATT A . . ANN=|sequence_feature|LOW|DMC1|ENSG00000100206|nucleotide_phosphate-binding_region:ATP|ENST00000216024|protein_coding|7/14|c.380-51_380-50delAA||||||,|sequence_feature|LOW|DMC1|ENSG00000100206|nucleotide_phosphate-binding_region:ATP|ENST00000216024|protein_coding|6/14|c.380-51_380-50delAA||||||,|sequence_feature|LOW|DMC1|ENSG00000100206|beta_strand|ENST00000216024|protein_coding|7/14|c.380-51_380-50delAA||||||,|sequence_feature|LOW|DMC1|ENSG00000100206|beta_strand|ENST00000216024|protein_coding|6/14|c.380-51_380-50delAA||||||,|sequence_feature|LOW|DMC1|ENSG00000100206|nucleotide_phosphate-binding_region:ATP|ENST00000428462|protein_coding|5/11|c.380-51_380-50delAA||||||,|sequence_feature|LOW|DMC1|ENSG00000100206|nucleotide_phosphate-binding_region:ATP|ENST00000428462|protein_coding|6/11|c.380-51_380-50delAA||||||,|sequence_feature|LOW|DMC1|ENSG00000100206|beta_strand|ENST00000428462|protein_coding|5/11|c.380-51_380-50delAA||||||,|sequence_feature|LOW|DMC1|ENSG00000100206|beta_strand|ENST00000428462|protein_coding|6/11|c.380-51_380-50delAA||||||,|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000216024|protein_coding|6/13|c.380-51_380-50delAA||||||,|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000428462|protein_coding|5/10|c.380-51_380-50delAA||||||,|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000439567|protein_coding|6/8|c.380-51_380-50delAA||||||WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000478820|retained_intron|6/7|n.555-51_555-50delAA||||||,|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000415483|protein_coding|5/5|c.380-51_380-50delAA||||||WARNING_TRANSCRIPT_INCOMPLETE 22 38951313 . G A . . ANN=A|sequence_feature|LOW|DMC1|ENSG00000100206|nucleotide_phosphate-binding_region:ATP|ENST00000216024|protein_coding|7/14|c.379+49C>T||||||,A|sequence_feature|LOW|DMC1|ENSG00000100206|nucleotide_phosphate-binding_region:ATP|ENST00000216024|protein_coding|6/14|c.379+49C>T||||||,A|sequence_feature|LOW|DMC1|ENSG00000100206|beta_strand|ENST00000216024|protein_coding|7/14|c.379+49C>T||||||,A|sequence_feature|LOW|DMC1|ENSG00000100206|beta_strand|ENST00000216024|protein_coding|6/14|c.379+49C>T||||||,A|sequence_feature|LOW|DMC1|ENSG00000100206|nucleotide_phosphate-binding_region:ATP|ENST00000428462|protein_coding|5/11|c.379+49C>T||||||,A|sequence_feature|LOW|DMC1|ENSG00000100206|nucleotide_phosphate-binding_region:ATP|ENST00000428462|protein_coding|6/11|c.379+49C>T||||||,A|sequence_feature|LOW|DMC1|ENSG00000100206|beta_strand|ENST00000428462|protein_coding|5/11|c.379+49C>T||||||,A|sequence_feature|LOW|DMC1|ENSG00000100206|beta_strand|ENST00000428462|protein_coding|6/11|c.379+49C>T||||||,A|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000216024|protein_coding|6/13|c.379+49C>T||||||,A|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000428462|protein_coding|5/10|c.379+49C>T||||||,A|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000439567|protein_coding|6/8|c.379+49C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000478820|retained_intron|6/7|n.554+49C>T||||||,A|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000415483|protein_coding|5/5|c.379+49C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 38958260 . G A . . ANN=A|sequence_feature|LOW|DMC1|ENSG00000100206|helix|ENST00000216024|protein_coding|5/14|c.326+32C>T||||||,A|sequence_feature|LOW|DMC1|ENSG00000100206|helix|ENST00000216024|protein_coding|6/14|c.326+32C>T||||||,A|sequence_feature|LOW|DMC1|ENSG00000100206|helix|ENST00000428462|protein_coding|4/11|c.326+32C>T||||||,A|sequence_feature|LOW|DMC1|ENSG00000100206|helix|ENST00000428462|protein_coding|5/11|c.326+32C>T||||||,A|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000216024|protein_coding|5/13|c.326+32C>T||||||,A|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000428462|protein_coding|4/10|c.326+32C>T||||||,A|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000439567|protein_coding|5/8|c.326+32C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000478820|retained_intron|5/7|n.501+32C>T||||||,A|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000415483|protein_coding|4/5|c.326+32C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 38962551 . A C . . ANN=C|downstream_gene_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000464842|processed_transcript||n.*269T>G|||||2738|,C|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000216024|protein_coding|4/13|c.243+44T>G||||||,C|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000428462|protein_coding|3/10|c.243+44T>G||||||,C|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000439567|protein_coding|4/8|c.243+44T>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000478820|retained_intron|4/7|n.418+44T>G||||||,C|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000415483|protein_coding|3/5|c.243+44T>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 38962628 . T C . . ANN=C|synonymous_variant|LOW|DMC1|ENSG00000100206|transcript|ENST00000216024|protein_coding|4/14|c.210A>G|p.Val70Val|487/2371|210/1023|70/340||,C|synonymous_variant|LOW|DMC1|ENSG00000100206|transcript|ENST00000428462|protein_coding|3/11|c.210A>G|p.Val70Val|363/1056|210/858|70/285||,C|synonymous_variant|LOW|DMC1|ENSG00000100206|transcript|ENST00000439567|protein_coding|4/9|c.210A>G|p.Val70Val|321/721|210/610|70/202||WARNING_TRANSCRIPT_INCOMPLETE,C|synonymous_variant|LOW|DMC1|ENSG00000100206|transcript|ENST00000415483|protein_coding|3/6|c.210A>G|p.Val70Val|363/569|210/416|70/137||WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000464842|processed_transcript||n.*269A>G|||||2661|,C|non_coding_exon_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000478820|retained_intron|4/8|n.385A>G|||||| 22 38962767 . A G . . ANN=G|downstream_gene_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000464842|processed_transcript||n.*269T>C|||||2522|,G|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000216024|protein_coding|3/13|c.97-26T>C||||||,G|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000428462|protein_coding|2/10|c.97-26T>C||||||,G|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000439567|protein_coding|3/8|c.97-26T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000478820|retained_intron|3/7|n.272-26T>C||||||,G|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000415483|protein_coding|2/5|c.97-26T>C||||||WARNING_TRANSCRIPT_INCOMPLETE 22 38963603 . T C . . ANN=C|synonymous_variant|LOW|DMC1|ENSG00000100206|transcript|ENST00000216024|protein_coding|3/14|c.81A>G|p.Leu27Leu|358/2371|81/1023|27/340||,C|synonymous_variant|LOW|DMC1|ENSG00000100206|transcript|ENST00000428462|protein_coding|2/11|c.81A>G|p.Leu27Leu|234/1056|81/858|27/285||,C|synonymous_variant|LOW|DMC1|ENSG00000100206|transcript|ENST00000439567|protein_coding|3/9|c.81A>G|p.Leu27Leu|192/721|81/610|27/202||WARNING_TRANSCRIPT_INCOMPLETE,C|synonymous_variant|LOW|DMC1|ENSG00000100206|transcript|ENST00000415483|protein_coding|2/6|c.81A>G|p.Leu27Leu|234/569|81/416|27/137||WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000464842|processed_transcript||n.*269A>G|||||1686|,C|non_coding_exon_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000478820|retained_intron|3/8|n.256A>G|||||| 22 38964167 . G A . . ANN=A|downstream_gene_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000464842|processed_transcript||n.*269C>T|||||1122|,A|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000216024|protein_coding|2/13|c.51+44C>T||||||,A|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000428462|protein_coding|1/10|c.51+44C>T||||||,A|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000439567|protein_coding|2/8|c.51+44C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000478820|retained_intron|2/7|n.226+44C>T||||||,A|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000415483|protein_coding|1/5|c.51+44C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 38964181 . T C . . ANN=C|downstream_gene_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000464842|processed_transcript||n.*269A>G|||||1108|,C|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000216024|protein_coding|2/13|c.51+30A>G||||||,C|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000428462|protein_coding|1/10|c.51+30A>G||||||,C|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000439567|protein_coding|2/8|c.51+30A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000478820|retained_intron|2/7|n.226+30A>G||||||,C|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000415483|protein_coding|1/5|c.51+30A>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 39066851 . G A . . ANN=A|upstream_gene_variant|MODIFIER|RP3-508I15.10|ENSG00000230912|transcript|ENST00000423346|antisense||n.-1C>T|||||2096|,A|upstream_gene_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000422408|antisense||n.-1C>T|||||543|,A|downstream_gene_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000475924|retained_intron||n.*566G>A|||||2379|,A|downstream_gene_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000412067|antisense||n.*738C>T|||||4968|,A|intron_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000216029|protein_coding|2/4|c.79-38G>A||||||,A|intron_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000485501|retained_intron|2/2|n.232-38G>A||||||,A|intron_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000411557|protein_coding|4/4|c.79-38G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000396811|protein_coding|3/5|c.79-38G>A||||||,A|intron_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000492537|retained_intron|2/3|n.197-38G>A||||||,A|intron_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000492576|retained_intron|3/3|n.332-38G>A||||||,A|intron_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000416285|protein_coding|4/5|c.79-38G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000431924|antisense|1/1|n.46-2521C>T||||||,A|non_coding_exon_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000444381|antisense|2/2|n.947C>T||||||,A|non_coding_exon_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000489847|retained_intron|3/5|n.259G>A||||||,A|non_coding_exon_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000467118|retained_intron|2/2|n.317G>A|||||| 22 39066862 . A C . . ANN=C|upstream_gene_variant|MODIFIER|RP3-508I15.10|ENSG00000230912|transcript|ENST00000423346|antisense||n.-1T>G|||||2107|,C|upstream_gene_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000422408|antisense||n.-1T>G|||||554|,C|downstream_gene_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000475924|retained_intron||n.*566A>C|||||2390|,C|downstream_gene_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000412067|antisense||n.*738T>G|||||4957|,C|intron_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000216029|protein_coding|2/4|c.79-27A>C||||||,C|intron_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000485501|retained_intron|2/2|n.232-27A>C||||||,C|intron_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000411557|protein_coding|4/4|c.79-27A>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000396811|protein_coding|3/5|c.79-27A>C||||||,C|intron_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000492537|retained_intron|2/3|n.197-27A>C||||||,C|intron_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000492576|retained_intron|3/3|n.332-27A>C||||||,C|intron_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000416285|protein_coding|4/5|c.79-27A>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000431924|antisense|1/1|n.46-2532T>G||||||,C|non_coding_exon_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000444381|antisense|2/2|n.936T>G||||||,C|non_coding_exon_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000489847|retained_intron|3/5|n.270A>C||||||,C|non_coding_exon_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000467118|retained_intron|2/2|n.328A>C|||||| 22 39066934 . T G . . ANN=G|missense_variant|MODERATE|CBY1|ENSG00000100211|transcript|ENST00000216029|protein_coding|3/5|c.124T>G|p.Ser42Ala|258/1133|124/381|42/126||,G|missense_variant|MODERATE|CBY1|ENSG00000100211|transcript|ENST00000411557|protein_coding|5/5|c.124T>G|p.Ser42Ala|555/615|124/184|42/60||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|CBY1|ENSG00000100211|transcript|ENST00000396811|protein_coding|4/6|c.124T>G|p.Ser42Ala|402/1269|124/381|42/126||,G|missense_variant|MODERATE|CBY1|ENSG00000100211|transcript|ENST00000416285|protein_coding|5/6|c.124T>G|p.Ser42Ala|565/744|124/303|42/100||WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|RP3-508I15.10|ENSG00000230912|transcript|ENST00000423346|antisense||n.-1A>C|||||2179|,G|upstream_gene_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000422408|antisense||n.-1A>C|||||626|,G|downstream_gene_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000475924|retained_intron||n.*566T>G|||||2462|,G|downstream_gene_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000412067|antisense||n.*738A>C|||||4885|,G|intron_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000431924|antisense|1/1|n.46-2604A>C||||||,G|non_coding_exon_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000444381|antisense|2/2|n.864A>C||||||,G|non_coding_exon_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000485501|retained_intron|3/3|n.277T>G||||||,G|non_coding_exon_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000492537|retained_intron|3/4|n.242T>G||||||,G|non_coding_exon_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000492576|retained_intron|4/4|n.377T>G||||||,G|non_coding_exon_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000489847|retained_intron|3/5|n.342T>G||||||,G|non_coding_exon_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000467118|retained_intron|2/2|n.400T>G|||||| 22 39067078 . CAG C . . ANN=|frameshift_variant|HIGH|CBY1|ENSG00000100211|transcript|ENST00000216029|protein_coding|4/5|c.189_190delAG|p.Thr63fs|323/1133|189/381|63/126||,|frameshift_variant|HIGH|CBY1|ENSG00000100211|transcript|ENST00000396811|protein_coding|5/6|c.189_190delAG|p.Thr63fs|467/1269|189/381|63/126||,|frameshift_variant|HIGH|CBY1|ENSG00000100211|transcript|ENST00000416285|protein_coding|6/6|c.189_190delAG|p.Thr63fs|630/744|189/303|63/100||WARNING_TRANSCRIPT_NO_STOP_CODON,|sequence_feature|LOW|CBY1|ENSG00000100211|region_of_interest:Minimal_region_for_the_interaction_with_PKD2|ENST00000216029|protein_coding|3/5|c.189_190delAG||||||,|sequence_feature|LOW|CBY1|ENSG00000100211|region_of_interest:Minimal_region_for_the_interaction_with_PKD2|ENST00000216029|protein_coding|5/5|c.189_190delAG||||||,|sequence_feature|LOW|CBY1|ENSG00000100211|region_of_interest:Minimal_region_for_the_interaction_with_PKD2|ENST00000216029|protein_coding|4/5|c.189_190delAG||||||,|upstream_gene_variant|MODIFIER|RP3-508I15.10|ENSG00000230912|transcript|ENST00000423346|antisense||n.-1_-1delCT|||||2324|,|upstream_gene_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000422408|antisense||n.-1_-1delCT|||||771|,|downstream_gene_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000475924|retained_intron||n.*566_*566delAG|||||2607|,|downstream_gene_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000411557|protein_coding||c.*615_*615delAG|||||85|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000467118|retained_intron||n.*416_*416delAG|||||129|,|downstream_gene_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000412067|antisense||n.*738_*738delCT|||||4740|,|intron_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000431924|antisense|1/1|n.46-2750_46-2749delCT||||||,|non_coding_exon_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000444381|antisense|2/2|n.718_719delCT||||||,|non_coding_exon_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000485501|retained_intron|3/3|n.422_423delAG||||||,|non_coding_exon_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000492537|retained_intron|4/4|n.307_308delAG||||||,|non_coding_exon_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000492576|retained_intron|4/4|n.522_523delAG||||||,|non_coding_exon_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000489847|retained_intron|4/5|n.407_408delAG||||||;LOF=(CBY1|ENSG00000100211|10|0.30) 22 39067083 . G A . . ANN=A|missense_variant|MODERATE|CBY1|ENSG00000100211|transcript|ENST00000216029|protein_coding|4/5|c.193G>A|p.Val65Ile|327/1133|193/381|65/126||,A|missense_variant|MODERATE|CBY1|ENSG00000100211|transcript|ENST00000396811|protein_coding|5/6|c.193G>A|p.Val65Ile|471/1269|193/381|65/126||,A|missense_variant|MODERATE|CBY1|ENSG00000100211|transcript|ENST00000416285|protein_coding|6/6|c.193G>A|p.Val65Ile|634/744|193/303|65/100||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|CBY1|ENSG00000100211|region_of_interest:Minimal_region_for_the_interaction_with_PKD2|ENST00000216029|protein_coding|3/5|c.193G>A||||||,A|sequence_feature|LOW|CBY1|ENSG00000100211|region_of_interest:Minimal_region_for_the_interaction_with_PKD2|ENST00000216029|protein_coding|5/5|c.193G>A||||||,A|sequence_feature|LOW|CBY1|ENSG00000100211|region_of_interest:Minimal_region_for_the_interaction_with_PKD2|ENST00000216029|protein_coding|4/5|c.193G>A||||||,A|upstream_gene_variant|MODIFIER|RP3-508I15.10|ENSG00000230912|transcript|ENST00000423346|antisense||n.-1C>T|||||2328|,A|upstream_gene_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000422408|antisense||n.-1C>T|||||775|,A|downstream_gene_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000475924|retained_intron||n.*566G>A|||||2611|,A|downstream_gene_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000411557|protein_coding||c.*615G>A|||||89|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000467118|retained_intron||n.*416G>A|||||133|,A|downstream_gene_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000412067|antisense||n.*738C>T|||||4736|,A|intron_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000431924|antisense|1/1|n.46-2753C>T||||||,A|non_coding_exon_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000444381|antisense|2/2|n.715C>T||||||,A|non_coding_exon_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000485501|retained_intron|3/3|n.426G>A||||||,A|non_coding_exon_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000492537|retained_intron|4/4|n.311G>A||||||,A|non_coding_exon_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000492576|retained_intron|4/4|n.526G>A||||||,A|non_coding_exon_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000489847|retained_intron|4/5|n.411G>A|||||| 22 39067128 . C T . . ANN=T|missense_variant|MODERATE|CBY1|ENSG00000100211|transcript|ENST00000216029|protein_coding|4/5|c.238C>T|p.Arg80Trp|372/1133|238/381|80/126||,T|missense_variant|MODERATE|CBY1|ENSG00000100211|transcript|ENST00000396811|protein_coding|5/6|c.238C>T|p.Arg80Trp|516/1269|238/381|80/126||,T|missense_variant|MODERATE|CBY1|ENSG00000100211|transcript|ENST00000416285|protein_coding|6/6|c.238C>T|p.Arg80Trp|679/744|238/303|80/100||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|CBY1|ENSG00000100211|region_of_interest:Minimal_region_for_the_interaction_with_PKD2|ENST00000216029|protein_coding|3/5|c.238C>T||||||,T|sequence_feature|LOW|CBY1|ENSG00000100211|region_of_interest:Minimal_region_for_the_interaction_with_PKD2|ENST00000216029|protein_coding|5/5|c.238C>T||||||,T|sequence_feature|LOW|CBY1|ENSG00000100211|region_of_interest:Minimal_region_for_the_interaction_with_PKD2|ENST00000216029|protein_coding|4/5|c.238C>T||||||,T|sequence_feature|LOW|CBY1|ENSG00000100211|coiled-coil_region|ENST00000216029|protein_coding|5/5|c.238C>T||||||,T|sequence_feature|LOW|CBY1|ENSG00000100211|coiled-coil_region|ENST00000216029|protein_coding|4/5|c.238C>T||||||,T|upstream_gene_variant|MODIFIER|RP3-508I15.10|ENSG00000230912|transcript|ENST00000423346|antisense||n.-1G>A|||||2373|,T|upstream_gene_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000422408|antisense||n.-1G>A|||||820|,T|downstream_gene_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000475924|retained_intron||n.*566C>T|||||2656|,T|downstream_gene_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000411557|protein_coding||c.*615C>T|||||134|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000467118|retained_intron||n.*416C>T|||||178|,T|downstream_gene_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000412067|antisense||n.*738G>A|||||4691|,T|intron_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000431924|antisense|1/1|n.46-2798G>A||||||,T|non_coding_exon_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000444381|antisense|2/2|n.670G>A||||||,T|non_coding_exon_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000485501|retained_intron|3/3|n.471C>T||||||,T|non_coding_exon_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000492537|retained_intron|4/4|n.356C>T||||||,T|non_coding_exon_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000492576|retained_intron|4/4|n.571C>T||||||,T|non_coding_exon_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000489847|retained_intron|4/5|n.456C>T|||||| 22 39067130 . G A . . ANN=A|synonymous_variant|LOW|CBY1|ENSG00000100211|transcript|ENST00000216029|protein_coding|4/5|c.240G>A|p.Arg80Arg|374/1133|240/381|80/126||,A|synonymous_variant|LOW|CBY1|ENSG00000100211|transcript|ENST00000396811|protein_coding|5/6|c.240G>A|p.Arg80Arg|518/1269|240/381|80/126||,A|synonymous_variant|LOW|CBY1|ENSG00000100211|transcript|ENST00000416285|protein_coding|6/6|c.240G>A|p.Arg80Arg|681/744|240/303|80/100||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|CBY1|ENSG00000100211|region_of_interest:Minimal_region_for_the_interaction_with_PKD2|ENST00000216029|protein_coding|3/5|c.240G>A||||||,A|sequence_feature|LOW|CBY1|ENSG00000100211|region_of_interest:Minimal_region_for_the_interaction_with_PKD2|ENST00000216029|protein_coding|5/5|c.240G>A||||||,A|sequence_feature|LOW|CBY1|ENSG00000100211|region_of_interest:Minimal_region_for_the_interaction_with_PKD2|ENST00000216029|protein_coding|4/5|c.240G>A||||||,A|sequence_feature|LOW|CBY1|ENSG00000100211|coiled-coil_region|ENST00000216029|protein_coding|5/5|c.240G>A||||||,A|sequence_feature|LOW|CBY1|ENSG00000100211|coiled-coil_region|ENST00000216029|protein_coding|4/5|c.240G>A||||||,A|upstream_gene_variant|MODIFIER|RP3-508I15.10|ENSG00000230912|transcript|ENST00000423346|antisense||n.-1C>T|||||2375|,A|upstream_gene_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000422408|antisense||n.-1C>T|||||822|,A|downstream_gene_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000475924|retained_intron||n.*566G>A|||||2658|,A|downstream_gene_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000411557|protein_coding||c.*615G>A|||||136|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000467118|retained_intron||n.*416G>A|||||180|,A|downstream_gene_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000412067|antisense||n.*738C>T|||||4689|,A|intron_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000431924|antisense|1/1|n.46-2800C>T||||||,A|non_coding_exon_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000444381|antisense|2/2|n.668C>T||||||,A|non_coding_exon_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000485501|retained_intron|3/3|n.473G>A||||||,A|non_coding_exon_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000492537|retained_intron|4/4|n.358G>A||||||,A|non_coding_exon_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000492576|retained_intron|4/4|n.573G>A||||||,A|non_coding_exon_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000489847|retained_intron|4/5|n.458G>A|||||| 22 39067223 . AG A . . ANN=|sequence_feature|LOW|CBY1|ENSG00000100211|region_of_interest:Minimal_region_for_the_interaction_with_PKD2|ENST00000216029|protein_coding|3/5|c.303+31delG||||||,|sequence_feature|LOW|CBY1|ENSG00000100211|region_of_interest:Minimal_region_for_the_interaction_with_PKD2|ENST00000216029|protein_coding|5/5|c.303+31delG||||||,|sequence_feature|LOW|CBY1|ENSG00000100211|region_of_interest:Minimal_region_for_the_interaction_with_PKD2|ENST00000216029|protein_coding|4/5|c.303+31delG||||||,|sequence_feature|LOW|CBY1|ENSG00000100211|coiled-coil_region|ENST00000216029|protein_coding|5/5|c.303+31delG||||||,|sequence_feature|LOW|CBY1|ENSG00000100211|coiled-coil_region|ENST00000216029|protein_coding|4/5|c.303+31delG||||||,|upstream_gene_variant|MODIFIER|RP3-508I15.10|ENSG00000230912|transcript|ENST00000423346|antisense||n.-1delC|||||2469|,|upstream_gene_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000422408|antisense||n.-1delC|||||916|,|downstream_gene_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000475924|retained_intron||n.*566delG|||||2752|,|downstream_gene_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000411557|protein_coding||c.*615delG|||||230|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000492576|retained_intron||n.*584delG|||||83|,|downstream_gene_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000416285|protein_coding||c.*744delG|||||31|WARNING_TRANSCRIPT_NO_STOP_CODON,|downstream_gene_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000467118|retained_intron||n.*416delG|||||274|,|downstream_gene_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000412067|antisense||n.*738delC|||||4595|,|intron_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000216029|protein_coding|4/4|c.303+31delG||||||,|intron_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000396811|protein_coding|5/5|c.303+31delG||||||,|intron_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000489847|retained_intron|4/4|n.521+31delG||||||,|intron_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000431924|antisense|1/1|n.46-2894delC||||||,|non_coding_exon_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000444381|antisense|2/2|n.574delC||||||,|non_coding_exon_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000485501|retained_intron|3/3|n.567delG||||||,|non_coding_exon_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000492537|retained_intron|4/4|n.452delG|||||| 22 39069181 . T C . . ANN=C|synonymous_variant|LOW|CBY1|ENSG00000100211|transcript|ENST00000216029|protein_coding|5/5|c.321T>C|p.Ala107Ala|455/1133|321/381|107/126||,C|synonymous_variant|LOW|CBY1|ENSG00000100211|transcript|ENST00000396811|protein_coding|6/6|c.321T>C|p.Ala107Ala|599/1269|321/381|107/126||,C|sequence_feature|LOW|CBY1|ENSG00000100211|region_of_interest:Minimal_region_for_the_interaction_with_PKD2|ENST00000216029|protein_coding|3/5|c.321T>C||||||,C|sequence_feature|LOW|CBY1|ENSG00000100211|region_of_interest:Minimal_region_for_the_interaction_with_PKD2|ENST00000216029|protein_coding|5/5|c.321T>C||||||,C|sequence_feature|LOW|CBY1|ENSG00000100211|region_of_interest:Minimal_region_for_the_interaction_with_PKD2|ENST00000216029|protein_coding|4/5|c.321T>C||||||,C|sequence_feature|LOW|CBY1|ENSG00000100211|coiled-coil_region|ENST00000216029|protein_coding|5/5|c.321T>C||||||,C|sequence_feature|LOW|CBY1|ENSG00000100211|coiled-coil_region|ENST00000216029|protein_coding|4/5|c.321T>C||||||,C|upstream_gene_variant|MODIFIER|RP3-508I15.10|ENSG00000230912|transcript|ENST00000423346|antisense||n.-1A>G|||||4426|,C|upstream_gene_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000422408|antisense||n.-1A>G|||||2873|,C|downstream_gene_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000475924|retained_intron||n.*566T>C|||||4709|,C|downstream_gene_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000485501|retained_intron||n.*583T>C|||||1941|,C|downstream_gene_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000411557|protein_coding||c.*615T>C|||||2187|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000492537|retained_intron||n.*542T>C|||||1867|,C|downstream_gene_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000492576|retained_intron||n.*584T>C|||||2040|,C|downstream_gene_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000416285|protein_coding||c.*744T>C|||||1988|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000467118|retained_intron||n.*416T>C|||||2231|,C|downstream_gene_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000412067|antisense||n.*738A>G|||||2638|,C|intron_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000444381|antisense|1/1|n.96-1479A>G||||||,C|intron_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000431924|antisense|1/1|n.46-4851A>G||||||,C|non_coding_exon_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000489847|retained_intron|5/5|n.539T>C|||||| 22 39077967 . C T . . ANN=T|5_prime_UTR_premature_start_codon_gain_variant|LOW|TOMM22|ENSG00000100216|transcript|ENST00000216034|protein_coding|1/4|c.-17C>T||||||,T|TF_binding_site_variant|LOW|||Gabp|MA0062.2|||||||||,T|TF_binding_site_variant|LOW|||Gabp|MA0062.1|||||||||,T|5_prime_UTR_variant|MODIFIER|TOMM22|ENSG00000100216|transcript|ENST00000216034|protein_coding|1/4|c.-17C>T|||||17|,T|upstream_gene_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000444381|antisense||n.-1G>A|||||142|,T|upstream_gene_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000431924|antisense||n.-1G>A|||||192|,T|upstream_gene_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000412067|antisense||n.-1G>A|||||175|,T|upstream_gene_variant|MODIFIER|TOMM22|ENSG00000100216|transcript|ENST00000492561|retained_intron||n.-1C>T|||||210|,T|downstream_gene_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000216039|protein_coding||c.*1289G>A|||||3581| 22 39078022 . C T . . ANN=T|synonymous_variant|LOW|TOMM22|ENSG00000100216|transcript|ENST00000216034|protein_coding|1/4|c.39C>T|p.Pro13Pro|70/1432|39/429|13/142||,T|sequence_feature|LOW|TOMM22|ENSG00000100216|topological_domain:Cytoplasmic|ENST00000216034|protein_coding|1/4|c.39C>T||||||,T|sequence_feature|LOW|TOMM22|ENSG00000100216|topological_domain:Cytoplasmic|ENST00000216034|protein_coding|3/4|c.39C>T||||||,T|sequence_feature|LOW|TOMM22|ENSG00000100216|topological_domain:Cytoplasmic|ENST00000216034|protein_coding|2/4|c.39C>T||||||,T|upstream_gene_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000444381|antisense||n.-1G>A|||||197|,T|upstream_gene_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000431924|antisense||n.-1G>A|||||247|,T|upstream_gene_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000412067|antisense||n.-1G>A|||||230|,T|upstream_gene_variant|MODIFIER|TOMM22|ENSG00000100216|transcript|ENST00000492561|retained_intron||n.-1C>T|||||155|,T|downstream_gene_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000216039|protein_coding||c.*1289G>A|||||3526| 22 39078330 . A G . . ANN=G|splice_region_variant&synonymous_variant|LOW|TOMM22|ENSG00000100216|transcript|ENST00000216034|protein_coding|2/4|c.120A>G|p.Leu40Leu|151/1432|120/429|40/142||,G|sequence_feature|LOW|TOMM22|ENSG00000100216|topological_domain:Cytoplasmic|ENST00000216034|protein_coding|1/4|c.120A>G||||||,G|sequence_feature|LOW|TOMM22|ENSG00000100216|topological_domain:Cytoplasmic|ENST00000216034|protein_coding|3/4|c.120A>G||||||,G|sequence_feature|LOW|TOMM22|ENSG00000100216|topological_domain:Cytoplasmic|ENST00000216034|protein_coding|2/4|c.120A>G||||||,G|upstream_gene_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000444381|antisense||n.-1T>C|||||505|,G|upstream_gene_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000431924|antisense||n.-1T>C|||||555|,G|upstream_gene_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000412067|antisense||n.-1T>C|||||538|,G|downstream_gene_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000216039|protein_coding||c.*1289T>C|||||3218|,G|non_coding_exon_variant|MODIFIER|TOMM22|ENSG00000100216|transcript|ENST00000492561|retained_intron|1/3|n.154A>G|||||| 22 39078421 . C T . . ANN=T|missense_variant|MODERATE|TOMM22|ENSG00000100216|transcript|ENST00000216034|protein_coding|2/4|c.211C>T|p.Leu71Phe|242/1432|211/429|71/142||,T|sequence_feature|LOW|TOMM22|ENSG00000100216|topological_domain:Cytoplasmic|ENST00000216034|protein_coding|1/4|c.211C>T||||||,T|sequence_feature|LOW|TOMM22|ENSG00000100216|topological_domain:Cytoplasmic|ENST00000216034|protein_coding|3/4|c.211C>T||||||,T|sequence_feature|LOW|TOMM22|ENSG00000100216|topological_domain:Cytoplasmic|ENST00000216034|protein_coding|2/4|c.211C>T||||||,T|upstream_gene_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000444381|antisense||n.-1G>A|||||596|,T|upstream_gene_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000431924|antisense||n.-1G>A|||||646|,T|upstream_gene_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000412067|antisense||n.-1G>A|||||629|,T|downstream_gene_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000216039|protein_coding||c.*1289G>A|||||3127|,T|non_coding_exon_variant|MODIFIER|TOMM22|ENSG00000100216|transcript|ENST00000492561|retained_intron|1/3|n.245C>T|||||| 22 39078948 . T G . . ANN=G|missense_variant|MODERATE|TOMM22|ENSG00000100216|transcript|ENST00000216034|protein_coding|3/4|c.301T>G|p.Phe101Val|332/1432|301/429|101/142||,G|sequence_feature|LOW|TOMM22|ENSG00000100216|region_of_interest:TMD|ENST00000216034|protein_coding|3/4|c.301T>G||||||,G|sequence_feature|LOW|TOMM22|ENSG00000100216|transmembrane_region:Transmembrane_region|ENST00000216034|protein_coding|3/4|c.301T>G||||||,G|upstream_gene_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000444381|antisense||n.-1A>C|||||1123|,G|upstream_gene_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000431924|antisense||n.-1A>C|||||1173|,G|upstream_gene_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000412067|antisense||n.-1A>C|||||1156|,G|downstream_gene_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000216039|protein_coding||c.*1289A>C|||||2600|,G|downstream_gene_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000545590|protein_coding||c.*463A>C|||||4775|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000482442|retained_intron||n.*467A>C|||||4981|,G|non_coding_exon_variant|MODIFIER|TOMM22|ENSG00000100216|transcript|ENST00000492561|retained_intron|2/3|n.335T>G|||||| 22 39079018 . G A . . ANN=A|sequence_feature|LOW|TOMM22|ENSG00000100216|topological_domain:Mitochondrial_intermembrane|ENST00000216034|protein_coding|4/4|c.354+17G>A||||||,A|sequence_feature|LOW|TOMM22|ENSG00000100216|topological_domain:Mitochondrial_intermembrane|ENST00000216034|protein_coding|3/4|c.354+17G>A||||||,A|upstream_gene_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000444381|antisense||n.-1C>T|||||1193|,A|upstream_gene_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000431924|antisense||n.-1C>T|||||1243|,A|upstream_gene_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000412067|antisense||n.-1C>T|||||1226|,A|downstream_gene_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000216039|protein_coding||c.*1289C>T|||||2530|,A|downstream_gene_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000545590|protein_coding||c.*463C>T|||||4705|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000482442|retained_intron||n.*467C>T|||||4911|,A|intron_variant|MODIFIER|TOMM22|ENSG00000100216|transcript|ENST00000216034|protein_coding|3/3|c.354+17G>A||||||,A|intron_variant|MODIFIER|TOMM22|ENSG00000100216|transcript|ENST00000492561|retained_intron|2/2|n.388+17G>A|||||| 22 39084930 . T G . . ANN=G|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|1/4|c.509+10A>C||||||,G|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|2/4|c.509+10A>C||||||,G|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|4/4|c.509+10A>C||||||,G|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|3/4|c.509+10A>C||||||,G|downstream_gene_variant|MODIFIER|TOMM22|ENSG00000100216|transcript|ENST00000216034|protein_coding||c.*460T>G|||||4112|,G|downstream_gene_variant|MODIFIER|TOMM22|ENSG00000100216|transcript|ENST00000492561|retained_intron||n.*782T>G|||||4765|,G|downstream_gene_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000427389|protein_coding||c.*571A>C|||||149|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000412832|protein_coding||c.*529A>C|||||371|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000216039|protein_coding|3/3|c.509+10A>C||||||,G|intron_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000545590|protein_coding|2/2|c.362+10A>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000482442|retained_intron|1/1|n.389+10A>C|||||| 22 39084951 . C G . . ANN=G|missense_variant|MODERATE|JOSD1|ENSG00000100221|transcript|ENST00000216039|protein_coding|3/4|c.498G>C|p.Glu166Asp|1178/3648|498/609|166/202||,G|missense_variant|MODERATE|JOSD1|ENSG00000100221|transcript|ENST00000545590|protein_coding|2/3|c.351G>C|p.Glu117Asp|352/647|351/462|117/153||WARNING_TRANSCRIPT_NO_START_CODON,G|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|1/4|c.498G>C||||||,G|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|2/4|c.498G>C||||||,G|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|4/4|c.498G>C||||||,G|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|3/4|c.498G>C||||||,G|downstream_gene_variant|MODIFIER|TOMM22|ENSG00000100216|transcript|ENST00000216034|protein_coding||c.*460C>G|||||4133|,G|downstream_gene_variant|MODIFIER|TOMM22|ENSG00000100216|transcript|ENST00000492561|retained_intron||n.*782C>G|||||4786|,G|downstream_gene_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000427389|protein_coding||c.*571G>C|||||128|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000412832|protein_coding||c.*529G>C|||||350|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000482442|retained_intron|1/2|n.378G>C|||||| 22 39085170 . C G . . ANN=G|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|1/4|c.315-36G>C||||||,G|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|2/4|c.315-36G>C||||||,G|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|4/4|c.315-36G>C||||||,G|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|3/4|c.315-36G>C||||||,G|downstream_gene_variant|MODIFIER|TOMM22|ENSG00000100216|transcript|ENST00000216034|protein_coding||c.*460C>G|||||4352|,G|downstream_gene_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000412832|protein_coding||c.*529G>C|||||131|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000216039|protein_coding|2/3|c.315-36G>C||||||,G|intron_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000545590|protein_coding|1/2|c.168-36G>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000427389|protein_coding|3/3|c.315-36G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000482442|retained_intron|1/2|n.159G>C|||||| 22 39085262 . C T . . ANN=T|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|1/4|c.314+39G>A||||||,T|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|2/4|c.314+39G>A||||||,T|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|4/4|c.314+39G>A||||||,T|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|3/4|c.314+39G>A||||||,T|downstream_gene_variant|MODIFIER|TOMM22|ENSG00000100216|transcript|ENST00000216034|protein_coding||c.*460C>T|||||4444|,T|downstream_gene_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000412832|protein_coding||c.*529G>A|||||39|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000216039|protein_coding|2/3|c.314+39G>A||||||,T|intron_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000545590|protein_coding|1/2|c.168-128G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000427389|protein_coding|3/3|c.314+39G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000482442|retained_intron|1/2|n.67G>A|||||| 22 39085276 . T C . . ANN=C|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|1/4|c.314+25A>G||||||,C|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|2/4|c.314+25A>G||||||,C|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|4/4|c.314+25A>G||||||,C|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|3/4|c.314+25A>G||||||,C|downstream_gene_variant|MODIFIER|TOMM22|ENSG00000100216|transcript|ENST00000216034|protein_coding||c.*460T>C|||||4458|,C|downstream_gene_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000412832|protein_coding||c.*529A>G|||||25|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000216039|protein_coding|2/3|c.314+25A>G||||||,C|intron_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000545590|protein_coding|1/2|c.168-142A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000427389|protein_coding|3/3|c.314+25A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000482442|retained_intron|1/2|n.53A>G|||||| 22 39085285 . G A . . ANN=A|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|1/4|c.314+16C>T||||||,A|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|2/4|c.314+16C>T||||||,A|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|4/4|c.314+16C>T||||||,A|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|3/4|c.314+16C>T||||||,A|downstream_gene_variant|MODIFIER|TOMM22|ENSG00000100216|transcript|ENST00000216034|protein_coding||c.*460G>A|||||4467|,A|downstream_gene_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000412832|protein_coding||c.*529C>T|||||16|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000216039|protein_coding|2/3|c.314+16C>T||||||,A|intron_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000545590|protein_coding|1/2|c.168-151C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000427389|protein_coding|3/3|c.314+16C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000482442|retained_intron|1/2|n.44C>T|||||| 22 39085434 . C A . . ANN=A|splice_region_variant&intron_variant|LOW|JOSD1|ENSG00000100221|transcript|ENST00000216039|protein_coding|1/3|c.186-5G>T||||||,A|splice_region_variant&intron_variant|LOW|JOSD1|ENSG00000100221|transcript|ENST00000427389|protein_coding|2/3|c.186-5G>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|splice_region_variant&intron_variant|LOW|JOSD1|ENSG00000100221|transcript|ENST00000412832|protein_coding|2/2|c.186-5G>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|1/4|c.186-5G>T||||||,A|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|2/4|c.186-5G>T||||||,A|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|4/4|c.186-5G>T||||||,A|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|3/4|c.186-5G>T||||||,A|upstream_gene_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000482442|retained_intron||n.-1G>T|||||106|,A|downstream_gene_variant|MODIFIER|TOMM22|ENSG00000100216|transcript|ENST00000216034|protein_coding||c.*460C>A|||||4616|,A|intron_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000545590|protein_coding|1/2|c.168-300G>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 39095769 . A T . . ANN=T|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|1/4|c.185+39T>A||||||,T|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|2/4|c.185+39T>A||||||,T|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|4/4|c.185+39T>A||||||,T|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|3/4|c.185+39T>A||||||,T|downstream_gene_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000417712|protein_coding||c.*623T>A|||||37|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000456626|protein_coding||c.*843T>A|||||39|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000462610|processed_transcript||n.*525T>A|||||397|,T|downstream_gene_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000490169|processed_transcript||n.*505T>A|||||512|,T|downstream_gene_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000493939|processed_transcript||n.*480T>A|||||518|,T|intron_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000216039|protein_coding|1/3|c.185+39T>A||||||,T|intron_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000545590|protein_coding|1/2|c.167+39T>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000427389|protein_coding|2/3|c.185+39T>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000412832|protein_coding|2/2|c.185+39T>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 39095776 . G C . . ANN=C|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|1/4|c.185+32C>G||||||,C|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|2/4|c.185+32C>G||||||,C|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|4/4|c.185+32C>G||||||,C|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|3/4|c.185+32C>G||||||,C|downstream_gene_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000417712|protein_coding||c.*623C>G|||||30|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000456626|protein_coding||c.*843C>G|||||32|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000462610|processed_transcript||n.*525C>G|||||390|,C|downstream_gene_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000490169|processed_transcript||n.*505C>G|||||505|,C|downstream_gene_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000493939|processed_transcript||n.*480C>G|||||511|,C|intron_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000216039|protein_coding|1/3|c.185+32C>G||||||,C|intron_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000545590|protein_coding|1/2|c.167+32C>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000427389|protein_coding|2/3|c.185+32C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000412832|protein_coding|2/2|c.185+32C>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 39095780 . C G . . ANN=G|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|1/4|c.185+28G>C||||||,G|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|2/4|c.185+28G>C||||||,G|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|4/4|c.185+28G>C||||||,G|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|3/4|c.185+28G>C||||||,G|downstream_gene_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000417712|protein_coding||c.*623G>C|||||26|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000456626|protein_coding||c.*843G>C|||||28|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000462610|processed_transcript||n.*525G>C|||||386|,G|downstream_gene_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000490169|processed_transcript||n.*505G>C|||||501|,G|downstream_gene_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000493939|processed_transcript||n.*480G>C|||||507|,G|intron_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000216039|protein_coding|1/3|c.185+28G>C||||||,G|intron_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000545590|protein_coding|1/2|c.167+28G>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000427389|protein_coding|2/3|c.185+28G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000412832|protein_coding|2/2|c.185+28G>C||||||WARNING_TRANSCRIPT_INCOMPLETE 22 39095849 . G C . . ANN=C|missense_variant|MODERATE|JOSD1|ENSG00000100221|transcript|ENST00000216039|protein_coding|1/4|c.144C>G|p.Ser48Arg|824/3648|144/609|48/202||,C|missense_variant|MODERATE|JOSD1|ENSG00000100221|transcript|ENST00000545590|protein_coding|1/3|c.126C>G|p.Ser42Arg|127/647|126/462|42/153||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|JOSD1|ENSG00000100221|transcript|ENST00000427389|protein_coding|2/4|c.144C>G|p.Ser48Arg|345/571|144/370|48/122||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|JOSD1|ENSG00000100221|transcript|ENST00000412832|protein_coding|2/3|c.144C>G|p.Ser48Arg|359/529|144/314|48/103||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|JOSD1|ENSG00000100221|transcript|ENST00000417712|protein_coding|2/2|c.144C>G|p.Ser48Arg|580/623|144/187|48/61||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|JOSD1|ENSG00000100221|transcript|ENST00000456626|protein_coding|2/2|c.144C>G|p.Ser48Arg|802/843|144/185|48/60||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|1/4|c.144C>G||||||,C|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|2/4|c.144C>G||||||,C|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|4/4|c.144C>G||||||,C|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|3/4|c.144C>G||||||,C|downstream_gene_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000462610|processed_transcript||n.*525C>G|||||317|,C|downstream_gene_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000490169|processed_transcript||n.*505C>G|||||432|,C|downstream_gene_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000493939|processed_transcript||n.*480C>G|||||438| 22 39095873 . G A . . ANN=A|synonymous_variant|LOW|JOSD1|ENSG00000100221|transcript|ENST00000216039|protein_coding|1/4|c.120C>T|p.Ala40Ala|800/3648|120/609|40/202||,A|synonymous_variant|LOW|JOSD1|ENSG00000100221|transcript|ENST00000545590|protein_coding|1/3|c.102C>T|p.Ala34Ala|103/647|102/462|34/153||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|JOSD1|ENSG00000100221|transcript|ENST00000427389|protein_coding|2/4|c.120C>T|p.Ala40Ala|321/571|120/370|40/122||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|JOSD1|ENSG00000100221|transcript|ENST00000412832|protein_coding|2/3|c.120C>T|p.Ala40Ala|335/529|120/314|40/103||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|JOSD1|ENSG00000100221|transcript|ENST00000417712|protein_coding|2/2|c.120C>T|p.Ala40Ala|556/623|120/187|40/61||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|JOSD1|ENSG00000100221|transcript|ENST00000456626|protein_coding|2/2|c.120C>T|p.Ala40Ala|778/843|120/185|40/60||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|1/4|c.120C>T||||||,A|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|2/4|c.120C>T||||||,A|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|4/4|c.120C>T||||||,A|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|3/4|c.120C>T||||||,A|downstream_gene_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000462610|processed_transcript||n.*525C>T|||||293|,A|downstream_gene_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000490169|processed_transcript||n.*505C>T|||||408|,A|downstream_gene_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000493939|processed_transcript||n.*480C>T|||||414| 22 39095882 . G C . . ANN=C|synonymous_variant|LOW|JOSD1|ENSG00000100221|transcript|ENST00000216039|protein_coding|1/4|c.111C>G|p.Ala37Ala|791/3648|111/609|37/202||,C|synonymous_variant|LOW|JOSD1|ENSG00000100221|transcript|ENST00000545590|protein_coding|1/3|c.93C>G|p.Ala31Ala|94/647|93/462|31/153||WARNING_TRANSCRIPT_NO_START_CODON,C|synonymous_variant|LOW|JOSD1|ENSG00000100221|transcript|ENST00000427389|protein_coding|2/4|c.111C>G|p.Ala37Ala|312/571|111/370|37/122||WARNING_TRANSCRIPT_INCOMPLETE,C|synonymous_variant|LOW|JOSD1|ENSG00000100221|transcript|ENST00000412832|protein_coding|2/3|c.111C>G|p.Ala37Ala|326/529|111/314|37/103||WARNING_TRANSCRIPT_INCOMPLETE,C|synonymous_variant|LOW|JOSD1|ENSG00000100221|transcript|ENST00000417712|protein_coding|2/2|c.111C>G|p.Ala37Ala|547/623|111/187|37/61||WARNING_TRANSCRIPT_INCOMPLETE,C|synonymous_variant|LOW|JOSD1|ENSG00000100221|transcript|ENST00000456626|protein_coding|2/2|c.111C>G|p.Ala37Ala|769/843|111/185|37/60||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|1/4|c.111C>G||||||,C|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|2/4|c.111C>G||||||,C|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|4/4|c.111C>G||||||,C|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|3/4|c.111C>G||||||,C|downstream_gene_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000462610|processed_transcript||n.*525C>G|||||284|,C|downstream_gene_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000490169|processed_transcript||n.*505C>G|||||399|,C|downstream_gene_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000493939|processed_transcript||n.*480C>G|||||405| 22 39095987 . A G . . ANN=G|synonymous_variant|LOW|JOSD1|ENSG00000100221|transcript|ENST00000216039|protein_coding|1/4|c.6T>C|p.Ser2Ser|686/3648|6/609|2/202||,G|synonymous_variant|LOW|JOSD1|ENSG00000100221|transcript|ENST00000427389|protein_coding|2/4|c.6T>C|p.Ser2Ser|207/571|6/370|2/122||WARNING_TRANSCRIPT_INCOMPLETE,G|synonymous_variant|LOW|JOSD1|ENSG00000100221|transcript|ENST00000412832|protein_coding|2/3|c.6T>C|p.Ser2Ser|221/529|6/314|2/103||WARNING_TRANSCRIPT_INCOMPLETE,G|synonymous_variant|LOW|JOSD1|ENSG00000100221|transcript|ENST00000417712|protein_coding|2/2|c.6T>C|p.Ser2Ser|442/623|6/187|2/61||WARNING_TRANSCRIPT_INCOMPLETE,G|synonymous_variant|LOW|JOSD1|ENSG00000100221|transcript|ENST00000456626|protein_coding|2/2|c.6T>C|p.Ser2Ser|664/843|6/185|2/60||WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000545590|protein_coding||c.-2T>C|||||12|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000462610|processed_transcript||n.*525T>C|||||179|,G|downstream_gene_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000490169|processed_transcript||n.*505T>C|||||294|,G|downstream_gene_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000493939|processed_transcript||n.*480T>C|||||300| 22 39104807 . C T . . ANN=T|intron_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000216044|protein_coding|1/11|c.193-43C>T||||||,T|intron_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484657|protein_coding|1/3|c.-51-43C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000418601|nonsense_mediated_decay|1/3|n.192+2655C>T||||||,T|intron_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000461428|retained_intron|1/2|n.31-43C>T||||||,T|intron_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000488787|protein_coding|1/3|c.-51-43C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000470836|protein_coding|1/2|c.-51-43C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 39104896 . G C . . ANN=C|missense_variant|MODERATE|GTPBP1|ENSG00000100226|transcript|ENST00000216044|protein_coding|2/12|c.239G>C|p.Arg80Pro|472/5126|239/2010|80/669||,C|5_prime_UTR_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484657|protein_coding|2/4|c.-5G>C|||||5|WARNING_TRANSCRIPT_INCOMPLETE,C|5_prime_UTR_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000488787|protein_coding|2/4|c.-5G>C|||||5|WARNING_TRANSCRIPT_INCOMPLETE,C|5_prime_UTR_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000470836|protein_coding|2/3|c.-5G>C|||||5|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000418601|nonsense_mediated_decay|1/3|n.192+2744G>C||||||,C|non_coding_exon_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000461428|retained_intron|2/3|n.77G>C|||||| 22 39112062 . G A . . ANN=A|missense_variant|MODERATE|GTPBP1|ENSG00000100226|transcript|ENST00000216044|protein_coding|3/12|c.455G>A|p.Arg152Gln|688/5126|455/2010|152/669||,A|missense_variant|MODERATE|GTPBP1|ENSG00000100226|transcript|ENST00000484657|protein_coding|3/4|c.212G>A|p.Arg71Gln|339/585|212/458|71/151||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|GTPBP1|ENSG00000100226|transcript|ENST00000488787|protein_coding|3/4|c.212G>A|p.Arg71Gln|534/582|212/260|71/85||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000418601|nonsense_mediated_decay|2/4|n.*130G>A|||||130|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000470836|protein_coding||c.*505G>A|||||95|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000418601|nonsense_mediated_decay|2/4|n.*130G>A||||||,A|non_coding_exon_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000461428|retained_intron|3/3|n.293G>A|||||| 22 39112138 . G T . . ANN=T|sequence_feature|LOW|GTPBP1|ENSG00000100226|domain:tr-type_G|ENST00000216044|protein_coding|3/12|c.485+46G>T||||||,T|sequence_feature|LOW|GTPBP1|ENSG00000100226|domain:tr-type_G|ENST00000216044|protein_coding|4/12|c.485+46G>T||||||,T|sequence_feature|LOW|GTPBP1|ENSG00000100226|domain:tr-type_G|ENST00000216044|protein_coding|6/12|c.485+46G>T||||||,T|sequence_feature|LOW|GTPBP1|ENSG00000100226|domain:tr-type_G|ENST00000216044|protein_coding|5/12|c.485+46G>T||||||,T|sequence_feature|LOW|GTPBP1|ENSG00000100226|domain:tr-type_G|ENST00000216044|protein_coding|7/12|c.485+46G>T||||||,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000470836|protein_coding||c.*505G>T|||||171|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000216044|protein_coding|3/11|c.485+46G>T||||||,T|intron_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484657|protein_coding|3/3|c.242+46G>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000418601|nonsense_mediated_decay|2/3|n.*160+46G>T||||||,T|intron_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000488787|protein_coding|3/3|c.242+46G>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000461428|retained_intron|3/3|n.369G>T|||||| 22 39112834 . A T . . ANN=T|missense_variant|MODERATE|GTPBP1|ENSG00000100226|transcript|ENST00000216044|protein_coding|4/12|c.663A>T|p.Glu221Asp|896/5126|663/2010|221/669||,T|missense_variant|MODERATE|GTPBP1|ENSG00000100226|transcript|ENST00000484657|protein_coding|4/4|c.420A>T|p.Glu140Asp|547/585|420/458|140/151||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|GTPBP1|ENSG00000100226|domain:tr-type_G|ENST00000216044|protein_coding|3/12|c.663A>T||||||,T|sequence_feature|LOW|GTPBP1|ENSG00000100226|domain:tr-type_G|ENST00000216044|protein_coding|4/12|c.663A>T||||||,T|sequence_feature|LOW|GTPBP1|ENSG00000100226|domain:tr-type_G|ENST00000216044|protein_coding|6/12|c.663A>T||||||,T|sequence_feature|LOW|GTPBP1|ENSG00000100226|domain:tr-type_G|ENST00000216044|protein_coding|5/12|c.663A>T||||||,T|sequence_feature|LOW|GTPBP1|ENSG00000100226|domain:tr-type_G|ENST00000216044|protein_coding|7/12|c.663A>T||||||,T|3_prime_UTR_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000418601|nonsense_mediated_decay|3/4|n.*338A>T|||||902|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000461428|retained_intron||n.*476A>T|||||589|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000488787|protein_coding||c.*582A>T|||||160|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000470836|protein_coding||c.*505A>T|||||867|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000418601|nonsense_mediated_decay|3/4|n.*338A>T|||||| 22 39112921 . C T . . ANN=T|synonymous_variant|LOW|GTPBP1|ENSG00000100226|transcript|ENST00000216044|protein_coding|4/12|c.750C>T|p.Phe250Phe|983/5126|750/2010|250/669||,T|sequence_feature|LOW|GTPBP1|ENSG00000100226|domain:tr-type_G|ENST00000216044|protein_coding|3/12|c.750C>T||||||,T|sequence_feature|LOW|GTPBP1|ENSG00000100226|domain:tr-type_G|ENST00000216044|protein_coding|4/12|c.750C>T||||||,T|sequence_feature|LOW|GTPBP1|ENSG00000100226|domain:tr-type_G|ENST00000216044|protein_coding|6/12|c.750C>T||||||,T|sequence_feature|LOW|GTPBP1|ENSG00000100226|domain:tr-type_G|ENST00000216044|protein_coding|5/12|c.750C>T||||||,T|sequence_feature|LOW|GTPBP1|ENSG00000100226|domain:tr-type_G|ENST00000216044|protein_coding|7/12|c.750C>T||||||,T|3_prime_UTR_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000418601|nonsense_mediated_decay|3/4|n.*425C>T|||||989|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484657|protein_coding||c.*585C>T|||||49|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000461428|retained_intron||n.*476C>T|||||676|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000488787|protein_coding||c.*582C>T|||||247|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000470836|protein_coding||c.*505C>T|||||954|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000418601|nonsense_mediated_decay|3/4|n.*425C>T|||||| 22 39112996 . C T . . ANN=T|synonymous_variant|LOW|GTPBP1|ENSG00000100226|transcript|ENST00000216044|protein_coding|4/12|c.825C>T|p.Cys275Cys|1058/5126|825/2010|275/669||,T|sequence_feature|LOW|GTPBP1|ENSG00000100226|domain:tr-type_G|ENST00000216044|protein_coding|3/12|c.825C>T||||||,T|sequence_feature|LOW|GTPBP1|ENSG00000100226|domain:tr-type_G|ENST00000216044|protein_coding|4/12|c.825C>T||||||,T|sequence_feature|LOW|GTPBP1|ENSG00000100226|domain:tr-type_G|ENST00000216044|protein_coding|6/12|c.825C>T||||||,T|sequence_feature|LOW|GTPBP1|ENSG00000100226|domain:tr-type_G|ENST00000216044|protein_coding|5/12|c.825C>T||||||,T|sequence_feature|LOW|GTPBP1|ENSG00000100226|domain:tr-type_G|ENST00000216044|protein_coding|7/12|c.825C>T||||||,T|3_prime_UTR_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000418601|nonsense_mediated_decay|3/4|n.*500C>T|||||1064|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484657|protein_coding||c.*585C>T|||||124|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000461428|retained_intron||n.*476C>T|||||751|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000488787|protein_coding||c.*582C>T|||||322|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000470836|protein_coding||c.*505C>T|||||1029|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000418601|nonsense_mediated_decay|3/4|n.*500C>T|||||| 22 39113021 . C T . . ANN=T|sequence_feature|LOW|GTPBP1|ENSG00000100226|domain:tr-type_G|ENST00000216044|protein_coding|3/12|c.834+16C>T||||||,T|sequence_feature|LOW|GTPBP1|ENSG00000100226|domain:tr-type_G|ENST00000216044|protein_coding|4/12|c.834+16C>T||||||,T|sequence_feature|LOW|GTPBP1|ENSG00000100226|domain:tr-type_G|ENST00000216044|protein_coding|6/12|c.834+16C>T||||||,T|sequence_feature|LOW|GTPBP1|ENSG00000100226|domain:tr-type_G|ENST00000216044|protein_coding|5/12|c.834+16C>T||||||,T|sequence_feature|LOW|GTPBP1|ENSG00000100226|domain:tr-type_G|ENST00000216044|protein_coding|7/12|c.834+16C>T||||||,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484657|protein_coding||c.*585C>T|||||149|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000461428|retained_intron||n.*476C>T|||||776|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000488787|protein_coding||c.*582C>T|||||347|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000470836|protein_coding||c.*505C>T|||||1054|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000216044|protein_coding|4/11|c.834+16C>T||||||,T|intron_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000418601|nonsense_mediated_decay|3/3|n.*509+16C>T|||||| 22 39113030 . G A . . ANN=A|sequence_feature|LOW|GTPBP1|ENSG00000100226|domain:tr-type_G|ENST00000216044|protein_coding|3/12|c.834+25G>A||||||,A|sequence_feature|LOW|GTPBP1|ENSG00000100226|domain:tr-type_G|ENST00000216044|protein_coding|4/12|c.834+25G>A||||||,A|sequence_feature|LOW|GTPBP1|ENSG00000100226|domain:tr-type_G|ENST00000216044|protein_coding|6/12|c.834+25G>A||||||,A|sequence_feature|LOW|GTPBP1|ENSG00000100226|domain:tr-type_G|ENST00000216044|protein_coding|5/12|c.834+25G>A||||||,A|sequence_feature|LOW|GTPBP1|ENSG00000100226|domain:tr-type_G|ENST00000216044|protein_coding|7/12|c.834+25G>A||||||,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484657|protein_coding||c.*585G>A|||||158|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000461428|retained_intron||n.*476G>A|||||785|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000488787|protein_coding||c.*582G>A|||||356|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000470836|protein_coding||c.*505G>A|||||1063|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000216044|protein_coding|4/11|c.834+25G>A||||||,A|intron_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000418601|nonsense_mediated_decay|3/3|n.*509+25G>A|||||| 22 39117881 . C T . . ANN=T|sequence_feature|LOW|GTPBP1|ENSG00000100226|domain:tr-type_G|ENST00000216044|protein_coding|3/12|c.958+11C>T||||||,T|sequence_feature|LOW|GTPBP1|ENSG00000100226|domain:tr-type_G|ENST00000216044|protein_coding|4/12|c.958+11C>T||||||,T|sequence_feature|LOW|GTPBP1|ENSG00000100226|domain:tr-type_G|ENST00000216044|protein_coding|6/12|c.958+11C>T||||||,T|sequence_feature|LOW|GTPBP1|ENSG00000100226|domain:tr-type_G|ENST00000216044|protein_coding|5/12|c.958+11C>T||||||,T|sequence_feature|LOW|GTPBP1|ENSG00000100226|domain:tr-type_G|ENST00000216044|protein_coding|7/12|c.958+11C>T||||||,T|upstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000460605|processed_transcript||n.-1C>T|||||3300|,T|upstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000475959|retained_intron||n.-1C>T|||||3931|,T|upstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding||c.-1C>T|||||4430|,T|downstream_gene_variant|MODIFIER|PRDX3P1|ENSG00000229598|transcript|ENST00000418695|processed_pseudogene||n.*763G>A|||||867|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000418601|nonsense_mediated_decay||n.*220C>T|||||54|,T|intron_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000216044|protein_coding|5/11|c.958+11C>T|||||| 22 39120291 . C T . . ANN=T|sequence_feature|LOW|GTPBP1|ENSG00000100226|domain:tr-type_G|ENST00000216044|protein_coding|3/12|c.959-11C>T||||||,T|sequence_feature|LOW|GTPBP1|ENSG00000100226|domain:tr-type_G|ENST00000216044|protein_coding|4/12|c.959-11C>T||||||,T|sequence_feature|LOW|GTPBP1|ENSG00000100226|domain:tr-type_G|ENST00000216044|protein_coding|6/12|c.959-11C>T||||||,T|sequence_feature|LOW|GTPBP1|ENSG00000100226|domain:tr-type_G|ENST00000216044|protein_coding|5/12|c.959-11C>T||||||,T|sequence_feature|LOW|GTPBP1|ENSG00000100226|domain:tr-type_G|ENST00000216044|protein_coding|7/12|c.959-11C>T||||||,T|upstream_gene_variant|MODIFIER|PRDX3P1|ENSG00000229598|transcript|ENST00000418695|processed_pseudogene||n.-1G>A|||||781|,T|upstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000460605|processed_transcript||n.-1C>T|||||890|,T|upstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000475959|retained_intron||n.-1C>T|||||1521|,T|upstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding||c.-1C>T|||||2020|,T|upstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000462332|retained_intron||n.-1C>T|||||3970|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000418601|nonsense_mediated_decay||n.*220C>T|||||2464|,T|intron_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000216044|protein_coding|5/11|c.959-11C>T|||||| 22 39122038 . C T . . ANN=T|synonymous_variant|LOW|GTPBP1|ENSG00000100226|transcript|ENST00000216044|protein_coding|7/12|c.1101C>T|p.Asn367Asn|1334/5126|1101/2010|367/669||,T|sequence_feature|LOW|GTPBP1|ENSG00000100226|domain:tr-type_G|ENST00000216044|protein_coding|3/12|c.1101C>T||||||,T|sequence_feature|LOW|GTPBP1|ENSG00000100226|domain:tr-type_G|ENST00000216044|protein_coding|4/12|c.1101C>T||||||,T|sequence_feature|LOW|GTPBP1|ENSG00000100226|domain:tr-type_G|ENST00000216044|protein_coding|6/12|c.1101C>T||||||,T|sequence_feature|LOW|GTPBP1|ENSG00000100226|domain:tr-type_G|ENST00000216044|protein_coding|5/12|c.1101C>T||||||,T|sequence_feature|LOW|GTPBP1|ENSG00000100226|domain:tr-type_G|ENST00000216044|protein_coding|7/12|c.1101C>T||||||,T|sequence_feature|LOW|GTPBP1|ENSG00000100226|region_of_interest:G5|ENST00000216044|protein_coding|7/12|c.1101C>T||||||,T|upstream_gene_variant|MODIFIER|PRDX3P1|ENSG00000229598|transcript|ENST00000418695|processed_pseudogene||n.-1G>A|||||2528|,T|upstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding||c.-1C>T|||||273|,T|upstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000462332|retained_intron||n.-1C>T|||||2223|,T|upstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484971|nonsense_mediated_decay||n.-3C>T|||||4580|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000418601|nonsense_mediated_decay||n.*220C>T|||||4211|,T|non_coding_exon_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000460605|processed_transcript|2/3|n.293C>T||||||,T|non_coding_exon_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000475959|retained_intron|1/2|n.227C>T|||||| 22 39122197 . A G . . ANN=G|upstream_gene_variant|MODIFIER|PRDX3P1|ENSG00000229598|transcript|ENST00000418695|processed_pseudogene||n.-1T>C|||||2687|,G|upstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding||c.-1A>G|||||114|,G|upstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000462332|retained_intron||n.-1A>G|||||2064|,G|upstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484971|nonsense_mediated_decay||n.-3A>G|||||4421|,G|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000418601|nonsense_mediated_decay||n.*220A>G|||||4370|,G|intron_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000216044|protein_coding|7/11|c.1218+42A>G||||||,G|intron_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000460605|processed_transcript|2/2|n.410+42A>G||||||,G|intron_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000475959|retained_intron|1/1|n.344+42A>G|||||| 22 39123391 . G A . . ANN=A|upstream_gene_variant|MODIFIER|PRDX3P1|ENSG00000229598|transcript|ENST00000418695|processed_pseudogene||n.-1C>T|||||3881|,A|upstream_gene_variant|MODIFIER|AL021707.2|ENSG00000257034|transcript|ENST00000544928|pseudogene||n.-1G>A|||||4387|,A|upstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000462332|retained_intron||n.-1G>A|||||870|,A|upstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484971|nonsense_mediated_decay||n.-3G>A|||||3227|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000460605|processed_transcript||n.*581G>A|||||958|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000475959|retained_intron||n.*475G>A|||||998|,A|intron_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000216044|protein_coding|9/11|c.1537+38G>A||||||,A|intron_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding|2/7|c.271+38G>A|||||| 22 39124185 . T C . . ANN=C|upstream_gene_variant|MODIFIER|PRDX3P1|ENSG00000229598|transcript|ENST00000418695|processed_pseudogene||n.-1A>G|||||4675|,C|upstream_gene_variant|MODIFIER|AL021707.2|ENSG00000257034|transcript|ENST00000544928|pseudogene||n.-1T>C|||||3593|,C|upstream_gene_variant|MODIFIER|AL021707.1|ENSG00000203583|transcript|ENST00000366392|pseudogene||n.-1T>C|||||4729|,C|upstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000462332|retained_intron||n.-1T>C|||||76|,C|upstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484971|nonsense_mediated_decay||n.-3T>C|||||2433|,C|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000460605|processed_transcript||n.*581T>C|||||1752|,C|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000475959|retained_intron||n.*475T>C|||||1792|,C|intron_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000216044|protein_coding|10/11|c.1716+19T>C||||||,C|intron_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding|3/7|c.450+19T>C|||||| 22 39124191 . G A . . ANN=A|upstream_gene_variant|MODIFIER|PRDX3P1|ENSG00000229598|transcript|ENST00000418695|processed_pseudogene||n.-1C>T|||||4681|,A|upstream_gene_variant|MODIFIER|AL021707.2|ENSG00000257034|transcript|ENST00000544928|pseudogene||n.-1G>A|||||3587|,A|upstream_gene_variant|MODIFIER|AL021707.1|ENSG00000203583|transcript|ENST00000366392|pseudogene||n.-1G>A|||||4723|,A|upstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000462332|retained_intron||n.-1G>A|||||70|,A|upstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484971|nonsense_mediated_decay||n.-3G>A|||||2427|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000460605|processed_transcript||n.*581G>A|||||1758|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000475959|retained_intron||n.*475G>A|||||1798|,A|intron_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000216044|protein_coding|10/11|c.1716+25G>A||||||,A|intron_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding|3/7|c.450+25G>A|||||| 22 39125428 . C T . . ANN=T|upstream_gene_variant|MODIFIER|AL021707.2|ENSG00000257034|transcript|ENST00000544928|pseudogene||n.-1C>T|||||2350|,T|upstream_gene_variant|MODIFIER|AL021707.1|ENSG00000203583|transcript|ENST00000366392|pseudogene||n.-1C>T|||||3486|,T|upstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484971|nonsense_mediated_decay||n.-3C>T|||||1190|,T|upstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000487538|nonsense_mediated_decay||n.-1C>T|||||4901|,T|upstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding||c.-3C>T|||||4902|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000460605|processed_transcript||n.*581C>T|||||2995|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000475959|retained_intron||n.*475C>T|||||3035|,T|intron_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000216044|protein_coding|10/11|c.1717-39C>T||||||,T|intron_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding|3/7|c.451-39C>T||||||,T|non_coding_exon_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000462332|retained_intron|1/2|n.1168C>T|||||| 22 39125529 . G A . . ANN=A|synonymous_variant|LOW|GTPBP1|ENSG00000100226|transcript|ENST00000216044|protein_coding|11/12|c.1779G>A|p.Ser593Ser|2012/5126|1779/2010|593/669||,A|synonymous_variant|LOW|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding|4/8|c.513G>A|p.Ser171Ser|513/1350|513/1050|171/349||,A|upstream_gene_variant|MODIFIER|AL021707.2|ENSG00000257034|transcript|ENST00000544928|pseudogene||n.-1G>A|||||2249|,A|upstream_gene_variant|MODIFIER|AL021707.1|ENSG00000203583|transcript|ENST00000366392|pseudogene||n.-1G>A|||||3385|,A|upstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484971|nonsense_mediated_decay||n.-3G>A|||||1089|,A|upstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000487538|nonsense_mediated_decay||n.-1G>A|||||4800|,A|upstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding||c.-3G>A|||||4801|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000460605|processed_transcript||n.*581G>A|||||3096|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000475959|retained_intron||n.*475G>A|||||3136|,A|non_coding_exon_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000462332|retained_intron|1/2|n.1269G>A|||||| 22 39125549 . C T . . ANN=T|missense_variant|MODERATE|GTPBP1|ENSG00000100226|transcript|ENST00000216044|protein_coding|11/12|c.1799C>T|p.Thr600Met|2032/5126|1799/2010|600/669||,T|missense_variant|MODERATE|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding|4/8|c.533C>T|p.Thr178Met|533/1350|533/1050|178/349||,T|upstream_gene_variant|MODIFIER|AL021707.2|ENSG00000257034|transcript|ENST00000544928|pseudogene||n.-1C>T|||||2229|,T|upstream_gene_variant|MODIFIER|AL021707.1|ENSG00000203583|transcript|ENST00000366392|pseudogene||n.-1C>T|||||3365|,T|upstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484971|nonsense_mediated_decay||n.-3C>T|||||1069|,T|upstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000487538|nonsense_mediated_decay||n.-1C>T|||||4780|,T|upstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding||c.-3C>T|||||4781|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000460605|processed_transcript||n.*581C>T|||||3116|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000475959|retained_intron||n.*475C>T|||||3156|,T|non_coding_exon_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000462332|retained_intron|1/2|n.1289C>T|||||| 22 39125559 . C T . . ANN=T|synonymous_variant|LOW|GTPBP1|ENSG00000100226|transcript|ENST00000216044|protein_coding|11/12|c.1809C>T|p.Asp603Asp|2042/5126|1809/2010|603/669||,T|synonymous_variant|LOW|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding|4/8|c.543C>T|p.Asp181Asp|543/1350|543/1050|181/349||,T|upstream_gene_variant|MODIFIER|AL021707.2|ENSG00000257034|transcript|ENST00000544928|pseudogene||n.-1C>T|||||2219|,T|upstream_gene_variant|MODIFIER|AL021707.1|ENSG00000203583|transcript|ENST00000366392|pseudogene||n.-1C>T|||||3355|,T|upstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484971|nonsense_mediated_decay||n.-3C>T|||||1059|,T|upstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000487538|nonsense_mediated_decay||n.-1C>T|||||4770|,T|upstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding||c.-3C>T|||||4771|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000460605|processed_transcript||n.*581C>T|||||3126|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000475959|retained_intron||n.*475C>T|||||3166|,T|non_coding_exon_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000462332|retained_intron|1/2|n.1299C>T|||||| 22 39125573 . C T . . ANN=T|missense_variant|MODERATE|GTPBP1|ENSG00000100226|transcript|ENST00000216044|protein_coding|11/12|c.1823C>T|p.Ser608Phe|2056/5126|1823/2010|608/669||,T|missense_variant|MODERATE|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding|4/8|c.557C>T|p.Ser186Phe|557/1350|557/1050|186/349||,T|upstream_gene_variant|MODIFIER|AL021707.2|ENSG00000257034|transcript|ENST00000544928|pseudogene||n.-1C>T|||||2205|,T|upstream_gene_variant|MODIFIER|AL021707.1|ENSG00000203583|transcript|ENST00000366392|pseudogene||n.-1C>T|||||3341|,T|upstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484971|nonsense_mediated_decay||n.-3C>T|||||1045|,T|upstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000487538|nonsense_mediated_decay||n.-1C>T|||||4756|,T|upstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding||c.-3C>T|||||4757|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000460605|processed_transcript||n.*581C>T|||||3140|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000475959|retained_intron||n.*475C>T|||||3180|,T|non_coding_exon_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000462332|retained_intron|1/2|n.1313C>T|||||| 22 39125692 . C T . . ANN=T|upstream_gene_variant|MODIFIER|AL021707.2|ENSG00000257034|transcript|ENST00000544928|pseudogene||n.-1C>T|||||2086|,T|upstream_gene_variant|MODIFIER|AL021707.1|ENSG00000203583|transcript|ENST00000366392|pseudogene||n.-1C>T|||||3222|,T|upstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484971|nonsense_mediated_decay||n.-3C>T|||||926|,T|upstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000487538|nonsense_mediated_decay||n.-1C>T|||||4637|,T|upstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding||c.-3C>T|||||4638|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000460605|processed_transcript||n.*581C>T|||||3259|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000475959|retained_intron||n.*475C>T|||||3299|,T|intron_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000216044|protein_coding|11/11|c.1917+25C>T||||||,T|intron_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding|4/7|c.651+25C>T||||||,T|intron_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000462332|retained_intron|1/1|n.1407+25C>T|||||| 22 39125693 . G A . . ANN=A|upstream_gene_variant|MODIFIER|AL021707.2|ENSG00000257034|transcript|ENST00000544928|pseudogene||n.-1G>A|||||2085|,A|upstream_gene_variant|MODIFIER|AL021707.1|ENSG00000203583|transcript|ENST00000366392|pseudogene||n.-1G>A|||||3221|,A|upstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484971|nonsense_mediated_decay||n.-3G>A|||||925|,A|upstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000487538|nonsense_mediated_decay||n.-1G>A|||||4636|,A|upstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding||c.-3G>A|||||4637|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000460605|processed_transcript||n.*581G>A|||||3260|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000475959|retained_intron||n.*475G>A|||||3300|,A|intron_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000216044|protein_coding|11/11|c.1917+26G>A||||||,A|intron_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding|4/7|c.651+26G>A||||||,A|intron_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000462332|retained_intron|1/1|n.1407+26G>A|||||| 22 39126748 . C G . . ANN=G|3_prime_UTR_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000216044|protein_coding|12/12|c.*39C>G|||||39|,G|3_prime_UTR_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484971|nonsense_mediated_decay|1/4|n.*39C>G|||||39|,G|upstream_gene_variant|MODIFIER|AL021707.2|ENSG00000257034|transcript|ENST00000544928|pseudogene||n.-1C>G|||||1030|,G|upstream_gene_variant|MODIFIER|AL021707.1|ENSG00000203583|transcript|ENST00000366392|pseudogene||n.-1C>G|||||2166|,G|upstream_gene_variant|MODIFIER|RP3-508I15.18|ENSG00000244491|transcript|ENST00000420118|antisense||n.-1C>G|||||3982|,G|upstream_gene_variant|MODIFIER|RP3-508I15.19|ENSG00000230149|transcript|ENST00000418803|antisense||n.-1C>G|||||3987|,G|upstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000487538|nonsense_mediated_decay||n.-1C>G|||||3581|,G|upstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding||c.-3C>G|||||3582|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding||c.*2491G>C|||||3993|,G|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000460605|processed_transcript||n.*581C>G|||||4315|,G|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000475959|retained_intron||n.*475C>G|||||4355|,G|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding||c.*2513G>C|||||3982|,G|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding||c.*2371G>C|||||3987|,G|intron_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding|5/7|c.699+84C>G||||||,G|non_coding_exon_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000462332|retained_intron|2/2|n.1539C>G||||||,G|non_coding_exon_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484971|nonsense_mediated_decay|1/4|n.*39C>G|||||| 22 39132280 . C T . . ANN=T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|18/18|c.2209G>A|p.Ala737Thr|2483/4022|2209/2217|737/738||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|19/19|c.2146G>A|p.Ala716Thr|2505/4055|2146/2154|716/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|18/18|c.2146G>A|p.Ala716Thr|2363/3908|2146/2154|716/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|19/19|c.2146G>A|p.Ala716Thr|2359/2725|2146/2154|716/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|18/18|c.2113G>A|p.Ala705Thr|2164/2486|2113/2121|705/706||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.2209G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.2209G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.2209G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.2209G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.2209G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.2209G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.2209G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.2209G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.2209G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.2209G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.2209G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|16/18|c.2209G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|17/18|c.2209G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|18/18|c.2209G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|15/18|c.2209G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|14/18|c.2209G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.2146G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.2146G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.2146G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.2146G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.2146G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.2146G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.2146G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.2146G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.2146G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.2146G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.2146G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|17/19|c.2146G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|18/19|c.2146G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|19/19|c.2146G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|16/19|c.2146G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|15/19|c.2146G>A||||||,T|upstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.-1C>T|||||2728|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000216044|protein_coding||c.*2243C>T|||||2688|,T|downstream_gene_variant|MODIFIER|AL021707.2|ENSG00000257034|transcript|ENST00000544928|pseudogene||n.*746C>T|||||3749|,T|downstream_gene_variant|MODIFIER|AL021707.1|ENSG00000203583|transcript|ENST00000366392|pseudogene||n.*674C>T|||||2692|,T|downstream_gene_variant|MODIFIER|RP3-508I15.20|ENSG00000273096|transcript|ENST00000609428|sense_intronic||n.*183G>A|||||335|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000462332|retained_intron||n.*3035C>T|||||4036|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484971|nonsense_mediated_decay||n.*92C>T|||||91|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000487538|nonsense_mediated_decay||n.*273C>T|||||100|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000455125|protein_coding||c.*597G>A|||||1485|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000470642|retained_intron||n.*571G>A|||||1963|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron||n.*914G>A|||||2651|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron||n.*1351G>A|||||3066|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron||n.*541G>A|||||4017|,T|intron_variant|MODIFIER|RP3-508I15.18|ENSG00000244491|transcript|ENST00000420118|antisense|1/1|n.317+1234C>T||||||,T|intron_variant|MODIFIER|RP3-508I15.19|ENSG00000230149|transcript|ENST00000418803|antisense|1/2|n.85+1461C>T||||||,T|intron_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding|7/7|c.1001+19C>T||||||,T|intron_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding|1/1|c.72-1676C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 39132281 . G A . . ANN=A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|18/18|c.2208C>T|p.Pro736Pro|2482/4022|2208/2217|736/738||,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|19/19|c.2145C>T|p.Pro715Pro|2504/4055|2145/2154|715/717||,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|18/18|c.2145C>T|p.Pro715Pro|2362/3908|2145/2154|715/717||,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|19/19|c.2145C>T|p.Pro715Pro|2358/2725|2145/2154|715/717||,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|18/18|c.2112C>T|p.Pro704Pro|2163/2486|2112/2121|704/706||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.2208C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.2208C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.2208C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.2208C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.2208C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.2208C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.2208C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.2208C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.2208C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.2208C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.2208C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|16/18|c.2208C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|17/18|c.2208C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|18/18|c.2208C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|15/18|c.2208C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|14/18|c.2208C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.2145C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.2145C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.2145C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.2145C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.2145C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.2145C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.2145C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.2145C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.2145C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.2145C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.2145C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|17/19|c.2145C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|18/19|c.2145C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|19/19|c.2145C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|16/19|c.2145C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|15/19|c.2145C>T||||||,A|upstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.-1G>A|||||2727|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000216044|protein_coding||c.*2243G>A|||||2689|,A|downstream_gene_variant|MODIFIER|AL021707.2|ENSG00000257034|transcript|ENST00000544928|pseudogene||n.*746G>A|||||3750|,A|downstream_gene_variant|MODIFIER|AL021707.1|ENSG00000203583|transcript|ENST00000366392|pseudogene||n.*674G>A|||||2693|,A|downstream_gene_variant|MODIFIER|RP3-508I15.20|ENSG00000273096|transcript|ENST00000609428|sense_intronic||n.*183C>T|||||334|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000462332|retained_intron||n.*3035G>A|||||4037|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484971|nonsense_mediated_decay||n.*92G>A|||||92|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000487538|nonsense_mediated_decay||n.*273G>A|||||101|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000455125|protein_coding||c.*597C>T|||||1484|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000470642|retained_intron||n.*571C>T|||||1962|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron||n.*914C>T|||||2650|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron||n.*1351C>T|||||3065|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron||n.*541C>T|||||4016|,A|intron_variant|MODIFIER|RP3-508I15.18|ENSG00000244491|transcript|ENST00000420118|antisense|1/1|n.317+1235G>A||||||,A|intron_variant|MODIFIER|RP3-508I15.19|ENSG00000230149|transcript|ENST00000418803|antisense|1/2|n.85+1462G>A||||||,A|intron_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding|7/7|c.1001+20G>A||||||,A|intron_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding|1/1|c.72-1675G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 39132369 . G A . . ANN=A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|18/18|c.2120C>T|p.Thr707Met|2394/4022|2120/2217|707/738||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|19/19|c.2057C>T|p.Thr686Met|2416/4055|2057/2154|686/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|18/18|c.2057C>T|p.Thr686Met|2274/3908|2057/2154|686/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|19/19|c.2057C>T|p.Thr686Met|2270/2725|2057/2154|686/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|18/18|c.2024C>T|p.Thr675Met|2075/2486|2024/2121|675/706||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.2120C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.2120C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.2120C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.2120C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.2120C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.2120C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.2120C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.2120C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.2120C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.2120C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.2120C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|16/18|c.2120C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|17/18|c.2120C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|18/18|c.2120C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|15/18|c.2120C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|14/18|c.2120C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.2057C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.2057C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.2057C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.2057C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.2057C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.2057C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.2057C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.2057C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.2057C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.2057C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.2057C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|17/19|c.2057C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|18/19|c.2057C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|19/19|c.2057C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|16/19|c.2057C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|15/19|c.2057C>T||||||,A|upstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.-1G>A|||||2639|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000216044|protein_coding||c.*2243G>A|||||2777|,A|downstream_gene_variant|MODIFIER|AL021707.2|ENSG00000257034|transcript|ENST00000544928|pseudogene||n.*746G>A|||||3838|,A|downstream_gene_variant|MODIFIER|AL021707.1|ENSG00000203583|transcript|ENST00000366392|pseudogene||n.*674G>A|||||2781|,A|downstream_gene_variant|MODIFIER|RP3-508I15.20|ENSG00000273096|transcript|ENST00000609428|sense_intronic||n.*183C>T|||||246|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000462332|retained_intron||n.*3035G>A|||||4125|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484971|nonsense_mediated_decay||n.*92G>A|||||180|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000487538|nonsense_mediated_decay||n.*273G>A|||||189|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000455125|protein_coding||c.*597C>T|||||1396|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000470642|retained_intron||n.*571C>T|||||1874|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron||n.*914C>T|||||2562|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron||n.*1351C>T|||||2977|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron||n.*541C>T|||||3928|,A|intron_variant|MODIFIER|RP3-508I15.18|ENSG00000244491|transcript|ENST00000420118|antisense|1/1|n.317+1323G>A||||||,A|intron_variant|MODIFIER|RP3-508I15.19|ENSG00000230149|transcript|ENST00000418803|antisense|1/2|n.85+1550G>A||||||,A|intron_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding|7/7|c.1001+108G>A||||||,A|intron_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding|1/1|c.72-1587G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 39132412 . G T . . ANN=T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.2104-27C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.2104-27C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.2104-27C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.2104-27C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.2104-27C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.2104-27C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.2104-27C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.2104-27C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.2104-27C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.2104-27C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.2104-27C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|16/18|c.2104-27C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|17/18|c.2104-27C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|18/18|c.2104-27C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|15/18|c.2104-27C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|14/18|c.2104-27C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.2041-27C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.2041-27C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.2041-27C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.2041-27C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.2041-27C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.2041-27C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.2041-27C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.2041-27C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.2041-27C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.2041-27C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.2041-27C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|17/19|c.2041-27C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|18/19|c.2041-27C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|19/19|c.2041-27C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|16/19|c.2041-27C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|15/19|c.2041-27C>A||||||,T|upstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.-1G>T|||||2596|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000216044|protein_coding||c.*2243G>T|||||2820|,T|downstream_gene_variant|MODIFIER|AL021707.2|ENSG00000257034|transcript|ENST00000544928|pseudogene||n.*746G>T|||||3881|,T|downstream_gene_variant|MODIFIER|AL021707.1|ENSG00000203583|transcript|ENST00000366392|pseudogene||n.*674G>T|||||2824|,T|downstream_gene_variant|MODIFIER|RP3-508I15.20|ENSG00000273096|transcript|ENST00000609428|sense_intronic||n.*183C>A|||||203|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000462332|retained_intron||n.*3035G>T|||||4168|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484971|nonsense_mediated_decay||n.*92G>T|||||223|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000487538|nonsense_mediated_decay||n.*273G>T|||||232|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000455125|protein_coding||c.*597C>A|||||1353|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000470642|retained_intron||n.*571C>A|||||1831|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron||n.*914C>A|||||2519|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron||n.*1351C>A|||||2934|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron||n.*541C>A|||||3885|,T|intron_variant|MODIFIER|RP3-508I15.18|ENSG00000244491|transcript|ENST00000420118|antisense|1/1|n.317+1366G>T||||||,T|intron_variant|MODIFIER|RP3-508I15.19|ENSG00000230149|transcript|ENST00000418803|antisense|1/2|n.85+1593G>T||||||,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|17/17|c.2104-27C>A||||||,T|intron_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding|7/7|c.1001+151G>T||||||,T|intron_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding|1/1|c.72-1544G>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|18/18|c.2041-27C>A||||||,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|17/17|c.2041-27C>A||||||,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|18/18|c.2041-27C>A||||||,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|17/17|c.2008-27C>A|||||| 22 39134207 . C T . . ANN=T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|17/18|c.2074G>A|p.Gly692Ser|2348/4022|2074/2217|692/738||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|18/19|c.2011G>A|p.Gly671Ser|2370/4055|2011/2154|671/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|17/18|c.2011G>A|p.Gly671Ser|2228/3908|2011/2154|671/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|18/19|c.2011G>A|p.Gly671Ser|2224/2725|2011/2154|671/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|17/18|c.1978G>A|p.Gly660Ser|2029/2486|1978/2121|660/706||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000455125|protein_coding|4/4|c.430G>A|p.Gly144Ser|430/872|430/597|144/198||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.2074G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.2074G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.2074G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.2074G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.2074G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.2074G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.2074G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.2074G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.2074G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.2074G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.2074G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|16/18|c.2074G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|17/18|c.2074G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|18/18|c.2074G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|15/18|c.2074G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|14/18|c.2074G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|beta_strand|ENST00000405018|protein_coding|17/18|c.2074G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.2011G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.2011G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.2011G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.2011G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.2011G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.2011G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.2011G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.2011G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.2011G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.2011G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.2011G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|17/19|c.2011G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|18/19|c.2011G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|19/19|c.2011G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|16/19|c.2011G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|15/19|c.2011G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|beta_strand|ENST00000406622|protein_coding|18/19|c.2011G>A||||||,T|3_prime_UTR_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding|8/8|c.*203C>T|||||203|,T|3_prime_UTR_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding|2/2|c.*203C>T|||||203|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|RP3-508I15.20|ENSG00000273096|transcript|ENST00000609428|sense_intronic||n.-1G>A|||||1410|,T|upstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.-1C>T|||||801|,T|upstream_gene_variant|MODIFIER|RP3-508I15.21|ENSG00000272669|transcript|ENST00000609212|antisense||n.-1C>T|||||4423|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000216044|protein_coding||c.*2243C>T|||||4615|,T|downstream_gene_variant|MODIFIER|AL021707.1|ENSG00000203583|transcript|ENST00000366392|pseudogene||n.*674C>T|||||4619|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484971|nonsense_mediated_decay||n.*92C>T|||||2018|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000487538|nonsense_mediated_decay||n.*273C>T|||||2027|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000470642|retained_intron||n.*571G>A|||||36|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron||n.*914G>A|||||724|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron||n.*1351G>A|||||1139|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron||n.*541G>A|||||2090|,T|intron_variant|MODIFIER|RP3-508I15.18|ENSG00000244491|transcript|ENST00000420118|antisense|1/1|n.318-420C>T||||||,T|intron_variant|MODIFIER|RP3-508I15.19|ENSG00000230149|transcript|ENST00000418803|antisense|1/2|n.86-225C>T|||||| 22 39134217 . G A . . ANN=A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|17/18|c.2064C>T|p.Tyr688Tyr|2338/4022|2064/2217|688/738||,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|18/19|c.2001C>T|p.Tyr667Tyr|2360/4055|2001/2154|667/717||,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|17/18|c.2001C>T|p.Tyr667Tyr|2218/3908|2001/2154|667/717||,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|18/19|c.2001C>T|p.Tyr667Tyr|2214/2725|2001/2154|667/717||,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|17/18|c.1968C>T|p.Tyr656Tyr|2019/2486|1968/2121|656/706||,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000455125|protein_coding|4/4|c.420C>T|p.Tyr140Tyr|420/872|420/597|140/198||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.2064C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.2064C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.2064C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.2064C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.2064C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.2064C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.2064C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.2064C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.2064C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.2064C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.2064C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|16/18|c.2064C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|17/18|c.2064C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|18/18|c.2064C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|15/18|c.2064C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|14/18|c.2064C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.2001C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.2001C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.2001C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.2001C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.2001C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.2001C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.2001C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.2001C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.2001C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.2001C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.2001C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|17/19|c.2001C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|18/19|c.2001C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|19/19|c.2001C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|16/19|c.2001C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|15/19|c.2001C>T||||||,A|3_prime_UTR_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding|8/8|c.*213G>A|||||213|,A|3_prime_UTR_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding|2/2|c.*213G>A|||||213|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|RP3-508I15.20|ENSG00000273096|transcript|ENST00000609428|sense_intronic||n.-1C>T|||||1420|,A|upstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.-1G>A|||||791|,A|upstream_gene_variant|MODIFIER|RP3-508I15.21|ENSG00000272669|transcript|ENST00000609212|antisense||n.-1G>A|||||4413|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000216044|protein_coding||c.*2243G>A|||||4625|,A|downstream_gene_variant|MODIFIER|AL021707.1|ENSG00000203583|transcript|ENST00000366392|pseudogene||n.*674G>A|||||4629|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484971|nonsense_mediated_decay||n.*92G>A|||||2028|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000487538|nonsense_mediated_decay||n.*273G>A|||||2037|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000470642|retained_intron||n.*571C>T|||||26|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron||n.*914C>T|||||714|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron||n.*1351C>T|||||1129|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron||n.*541C>T|||||2080|,A|intron_variant|MODIFIER|RP3-508I15.18|ENSG00000244491|transcript|ENST00000420118|antisense|1/1|n.318-410G>A||||||,A|intron_variant|MODIFIER|RP3-508I15.19|ENSG00000230149|transcript|ENST00000418803|antisense|1/2|n.86-215G>A|||||| 22 39134262 . G A . . ANN=A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|17/18|c.2019C>T|p.Asp673Asp|2293/4022|2019/2217|673/738||,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|18/19|c.1956C>T|p.Asp652Asp|2315/4055|1956/2154|652/717||,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|17/18|c.1956C>T|p.Asp652Asp|2173/3908|1956/2154|652/717||,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|18/19|c.1956C>T|p.Asp652Asp|2169/2725|1956/2154|652/717||,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|17/18|c.1923C>T|p.Asp641Asp|1974/2486|1923/2121|641/706||,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000455125|protein_coding|4/4|c.375C>T|p.Asp125Asp|375/872|375/597|125/198||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.2019C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.2019C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.2019C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.2019C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.2019C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.2019C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.2019C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.2019C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.2019C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.2019C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.2019C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|16/18|c.2019C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|17/18|c.2019C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|18/18|c.2019C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|15/18|c.2019C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|14/18|c.2019C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|beta_strand|ENST00000405018|protein_coding|16/18|c.2019C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|beta_strand|ENST00000405018|protein_coding|17/18|c.2019C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.1956C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.1956C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.1956C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.1956C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.1956C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.1956C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.1956C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.1956C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.1956C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.1956C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.1956C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|17/19|c.1956C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|18/19|c.1956C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|19/19|c.1956C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|16/19|c.1956C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|15/19|c.1956C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|beta_strand|ENST00000406622|protein_coding|17/19|c.1956C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|beta_strand|ENST00000406622|protein_coding|18/19|c.1956C>T||||||,A|3_prime_UTR_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding|8/8|c.*258G>A|||||258|,A|3_prime_UTR_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding|2/2|c.*258G>A|||||258|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|RP3-508I15.20|ENSG00000273096|transcript|ENST00000609428|sense_intronic||n.-1C>T|||||1465|,A|upstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.-1G>A|||||746|,A|upstream_gene_variant|MODIFIER|RP3-508I15.21|ENSG00000272669|transcript|ENST00000609212|antisense||n.-1G>A|||||4368|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000216044|protein_coding||c.*2243G>A|||||4670|,A|downstream_gene_variant|MODIFIER|AL021707.1|ENSG00000203583|transcript|ENST00000366392|pseudogene||n.*674G>A|||||4674|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484971|nonsense_mediated_decay||n.*92G>A|||||2073|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000487538|nonsense_mediated_decay||n.*273G>A|||||2082|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron||n.*914C>T|||||669|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron||n.*1351C>T|||||1084|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron||n.*541C>T|||||2035|,A|intron_variant|MODIFIER|RP3-508I15.18|ENSG00000244491|transcript|ENST00000420118|antisense|1/1|n.318-365G>A||||||,A|intron_variant|MODIFIER|RP3-508I15.19|ENSG00000230149|transcript|ENST00000418803|antisense|1/2|n.86-170G>A||||||,A|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000470642|retained_intron|3/3|n.552C>T|||||| 22 39134279 . A G . . ANN=G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.2011-9T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.2011-9T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.2011-9T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.2011-9T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.2011-9T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.2011-9T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.2011-9T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.2011-9T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.2011-9T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.2011-9T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.2011-9T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|16/18|c.2011-9T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|17/18|c.2011-9T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|18/18|c.2011-9T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|15/18|c.2011-9T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|14/18|c.2011-9T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|beta_strand|ENST00000405018|protein_coding|16/18|c.2011-9T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|beta_strand|ENST00000405018|protein_coding|17/18|c.2011-9T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.1948-9T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.1948-9T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.1948-9T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.1948-9T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.1948-9T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.1948-9T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.1948-9T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.1948-9T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.1948-9T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.1948-9T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.1948-9T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|17/19|c.1948-9T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|18/19|c.1948-9T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|19/19|c.1948-9T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|16/19|c.1948-9T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|15/19|c.1948-9T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|beta_strand|ENST00000406622|protein_coding|17/19|c.1948-9T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|beta_strand|ENST00000406622|protein_coding|18/19|c.1948-9T>C||||||,G|3_prime_UTR_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding|8/8|c.*275A>G|||||275|,G|3_prime_UTR_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding|2/2|c.*275A>G|||||275|WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|RP3-508I15.20|ENSG00000273096|transcript|ENST00000609428|sense_intronic||n.-1T>C|||||1482|,G|upstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.-1A>G|||||729|,G|upstream_gene_variant|MODIFIER|RP3-508I15.21|ENSG00000272669|transcript|ENST00000609212|antisense||n.-1A>G|||||4351|,G|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000216044|protein_coding||c.*2243A>G|||||4687|,G|downstream_gene_variant|MODIFIER|AL021707.1|ENSG00000203583|transcript|ENST00000366392|pseudogene||n.*674A>G|||||4691|,G|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484971|nonsense_mediated_decay||n.*92A>G|||||2090|,G|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000487538|nonsense_mediated_decay||n.*273A>G|||||2099|,G|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron||n.*914T>C|||||652|,G|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron||n.*1351T>C|||||1067|,G|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron||n.*541T>C|||||2018|,G|intron_variant|MODIFIER|RP3-508I15.18|ENSG00000244491|transcript|ENST00000420118|antisense|1/1|n.318-348A>G||||||,G|intron_variant|MODIFIER|RP3-508I15.19|ENSG00000230149|transcript|ENST00000418803|antisense|1/2|n.86-153A>G||||||,G|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|16/17|c.2011-9T>C||||||,G|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|17/18|c.1948-9T>C||||||,G|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|16/17|c.1948-9T>C||||||,G|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|17/18|c.1948-9T>C||||||,G|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|16/17|c.1915-9T>C||||||,G|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000455125|protein_coding|3/3|c.367-9T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000470642|retained_intron|2/2|n.544-9T>C|||||| 22 39134320 . C A . . ANN=A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.2011-50G>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.2011-50G>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.2011-50G>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.2011-50G>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.2011-50G>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.2011-50G>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.2011-50G>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.2011-50G>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.2011-50G>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.2011-50G>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.2011-50G>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|16/18|c.2011-50G>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|17/18|c.2011-50G>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|18/18|c.2011-50G>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|15/18|c.2011-50G>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|14/18|c.2011-50G>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|beta_strand|ENST00000405018|protein_coding|16/18|c.2011-50G>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|beta_strand|ENST00000405018|protein_coding|17/18|c.2011-50G>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.1948-50G>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.1948-50G>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.1948-50G>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.1948-50G>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.1948-50G>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.1948-50G>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.1948-50G>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.1948-50G>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.1948-50G>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.1948-50G>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.1948-50G>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|17/19|c.1948-50G>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|18/19|c.1948-50G>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|19/19|c.1948-50G>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|16/19|c.1948-50G>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|15/19|c.1948-50G>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|beta_strand|ENST00000406622|protein_coding|17/19|c.1948-50G>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|beta_strand|ENST00000406622|protein_coding|18/19|c.1948-50G>T||||||,A|upstream_gene_variant|MODIFIER|RP3-508I15.20|ENSG00000273096|transcript|ENST00000609428|sense_intronic||n.-1G>T|||||1523|,A|upstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.-1C>A|||||688|,A|upstream_gene_variant|MODIFIER|RP3-508I15.21|ENSG00000272669|transcript|ENST00000609212|antisense||n.-1C>A|||||4310|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000216044|protein_coding||c.*2243C>A|||||4728|,A|downstream_gene_variant|MODIFIER|AL021707.1|ENSG00000203583|transcript|ENST00000366392|pseudogene||n.*674C>A|||||4732|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding||c.*1050C>A|||||16|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484971|nonsense_mediated_decay||n.*92C>A|||||2131|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000487538|nonsense_mediated_decay||n.*273C>A|||||2140|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding||c.*122C>A|||||20|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron||n.*914G>T|||||611|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron||n.*1351G>T|||||1026|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron||n.*541G>T|||||1977|,A|intron_variant|MODIFIER|RP3-508I15.18|ENSG00000244491|transcript|ENST00000420118|antisense|1/1|n.318-307C>A||||||,A|intron_variant|MODIFIER|RP3-508I15.19|ENSG00000230149|transcript|ENST00000418803|antisense|1/2|n.86-112C>A||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|16/17|c.2011-50G>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|17/18|c.1948-50G>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|16/17|c.1948-50G>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|17/18|c.1948-50G>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|16/17|c.1915-50G>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000455125|protein_coding|3/3|c.367-50G>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000470642|retained_intron|2/2|n.544-50G>T|||||| 22 39134551 . C T . . ANN=T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.2010+41G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.2010+41G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.2010+41G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.2010+41G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.2010+41G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.2010+41G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.2010+41G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.2010+41G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.2010+41G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.2010+41G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.2010+41G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|16/18|c.2010+41G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|17/18|c.2010+41G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|18/18|c.2010+41G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|15/18|c.2010+41G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|14/18|c.2010+41G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|beta_strand|ENST00000405018|protein_coding|16/18|c.2010+41G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|beta_strand|ENST00000405018|protein_coding|17/18|c.2010+41G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.1947+41G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.1947+41G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.1947+41G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.1947+41G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.1947+41G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.1947+41G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.1947+41G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.1947+41G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.1947+41G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.1947+41G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.1947+41G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|17/19|c.1947+41G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|18/19|c.1947+41G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|19/19|c.1947+41G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|16/19|c.1947+41G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|15/19|c.1947+41G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|beta_strand|ENST00000406622|protein_coding|17/19|c.1947+41G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|beta_strand|ENST00000406622|protein_coding|18/19|c.1947+41G>A||||||,T|upstream_gene_variant|MODIFIER|RP3-508I15.20|ENSG00000273096|transcript|ENST00000609428|sense_intronic||n.-1G>A|||||1754|,T|upstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.-1C>T|||||457|,T|upstream_gene_variant|MODIFIER|RP3-508I15.21|ENSG00000272669|transcript|ENST00000609212|antisense||n.-1C>T|||||4079|,T|upstream_gene_variant|MODIFIER|RP3-508I15.22|ENSG00000273076|transcript|ENST00000607991|antisense||n.-1C>T|||||4949|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000216044|protein_coding||c.*2243C>T|||||4959|,T|downstream_gene_variant|MODIFIER|AL021707.1|ENSG00000203583|transcript|ENST00000366392|pseudogene||n.*674C>T|||||4963|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding||c.*1050C>T|||||247|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484971|nonsense_mediated_decay||n.*92C>T|||||2362|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000487538|nonsense_mediated_decay||n.*273C>T|||||2371|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding||c.*122C>T|||||251|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron||n.*914G>A|||||380|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron||n.*1351G>A|||||795|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron||n.*541G>A|||||1746|,T|intron_variant|MODIFIER|RP3-508I15.18|ENSG00000244491|transcript|ENST00000420118|antisense|1/1|n.318-76C>T||||||,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|16/17|c.2010+41G>A||||||,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|17/18|c.1947+41G>A||||||,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|16/17|c.1947+41G>A||||||,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|17/18|c.1947+41G>A||||||,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|16/17|c.1914+41G>A||||||,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000455125|protein_coding|3/3|c.366+41G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000470642|retained_intron|2/2|n.543+41G>A||||||,T|non_coding_exon_variant|MODIFIER|RP3-508I15.19|ENSG00000230149|transcript|ENST00000418803|antisense|2/3|n.205C>T|||||| 22 39134558 . G T . . ANN=T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.2010+34C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.2010+34C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.2010+34C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.2010+34C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.2010+34C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.2010+34C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.2010+34C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.2010+34C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.2010+34C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.2010+34C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.2010+34C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|16/18|c.2010+34C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|17/18|c.2010+34C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|18/18|c.2010+34C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|15/18|c.2010+34C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|14/18|c.2010+34C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|beta_strand|ENST00000405018|protein_coding|16/18|c.2010+34C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|beta_strand|ENST00000405018|protein_coding|17/18|c.2010+34C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.1947+34C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.1947+34C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.1947+34C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.1947+34C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.1947+34C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.1947+34C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.1947+34C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.1947+34C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.1947+34C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.1947+34C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.1947+34C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|17/19|c.1947+34C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|18/19|c.1947+34C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|19/19|c.1947+34C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|16/19|c.1947+34C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|15/19|c.1947+34C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|beta_strand|ENST00000406622|protein_coding|17/19|c.1947+34C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|beta_strand|ENST00000406622|protein_coding|18/19|c.1947+34C>A||||||,T|upstream_gene_variant|MODIFIER|RP3-508I15.20|ENSG00000273096|transcript|ENST00000609428|sense_intronic||n.-1C>A|||||1761|,T|upstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.-1G>T|||||450|,T|upstream_gene_variant|MODIFIER|RP3-508I15.21|ENSG00000272669|transcript|ENST00000609212|antisense||n.-1G>T|||||4072|,T|upstream_gene_variant|MODIFIER|RP3-508I15.22|ENSG00000273076|transcript|ENST00000607991|antisense||n.-1G>T|||||4942|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000216044|protein_coding||c.*2243G>T|||||4966|,T|downstream_gene_variant|MODIFIER|AL021707.1|ENSG00000203583|transcript|ENST00000366392|pseudogene||n.*674G>T|||||4970|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding||c.*1050G>T|||||254|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484971|nonsense_mediated_decay||n.*92G>T|||||2369|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000487538|nonsense_mediated_decay||n.*273G>T|||||2378|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding||c.*122G>T|||||258|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron||n.*914C>A|||||373|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron||n.*1351C>A|||||788|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron||n.*541C>A|||||1739|,T|intron_variant|MODIFIER|RP3-508I15.18|ENSG00000244491|transcript|ENST00000420118|antisense|1/1|n.318-69G>T||||||,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|16/17|c.2010+34C>A||||||,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|17/18|c.1947+34C>A||||||,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|16/17|c.1947+34C>A||||||,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|17/18|c.1947+34C>A||||||,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|16/17|c.1914+34C>A||||||,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000455125|protein_coding|3/3|c.366+34C>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000470642|retained_intron|2/2|n.543+34C>A||||||,T|non_coding_exon_variant|MODIFIER|RP3-508I15.19|ENSG00000230149|transcript|ENST00000418803|antisense|2/3|n.212G>T|||||| 22 39134699 . G T . . ANN=T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|16/18|c.1903C>A|p.Arg635Ser|2177/4022|1903/2217|635/738||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|17/19|c.1840C>A|p.Arg614Ser|2199/4055|1840/2154|614/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|16/18|c.1840C>A|p.Arg614Ser|2057/3908|1840/2154|614/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|17/19|c.1840C>A|p.Arg614Ser|2053/2725|1840/2154|614/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|16/18|c.1807C>A|p.Arg603Ser|1858/2486|1807/2121|603/706||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000455125|protein_coding|3/4|c.259C>A|p.Arg87Ser|259/872|259/597|87/198||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.1903C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.1903C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.1903C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.1903C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.1903C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.1903C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.1903C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.1903C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.1903C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.1903C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.1903C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|16/18|c.1903C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|17/18|c.1903C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|18/18|c.1903C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|15/18|c.1903C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|14/18|c.1903C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|beta_strand|ENST00000405018|protein_coding|16/18|c.1903C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.1840C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.1840C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.1840C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.1840C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.1840C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.1840C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.1840C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.1840C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.1840C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.1840C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.1840C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|17/19|c.1840C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|18/19|c.1840C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|19/19|c.1840C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|16/19|c.1840C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|15/19|c.1840C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|beta_strand|ENST00000406622|protein_coding|17/19|c.1840C>A||||||,T|upstream_gene_variant|MODIFIER|RP3-508I15.20|ENSG00000273096|transcript|ENST00000609428|sense_intronic||n.-1C>A|||||1902|,T|upstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.-1G>T|||||309|,T|upstream_gene_variant|MODIFIER|RP3-508I15.21|ENSG00000272669|transcript|ENST00000609212|antisense||n.-1G>T|||||3931|,T|upstream_gene_variant|MODIFIER|RP3-508I15.22|ENSG00000273076|transcript|ENST00000607991|antisense||n.-1G>T|||||4801|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding||c.*1050G>T|||||395|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484971|nonsense_mediated_decay||n.*92G>T|||||2510|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000487538|nonsense_mediated_decay||n.*273G>T|||||2519|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding||c.*122G>T|||||399|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron||n.*914C>A|||||232|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron||n.*1351C>A|||||647|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron||n.*541C>A|||||1598|,T|non_coding_exon_variant|MODIFIER|RP3-508I15.18|ENSG00000244491|transcript|ENST00000420118|antisense|2/2|n.390G>T||||||,T|non_coding_exon_variant|MODIFIER|RP3-508I15.19|ENSG00000230149|transcript|ENST00000418803|antisense|2/3|n.353G>T||||||,T|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000470642|retained_intron|2/3|n.436C>A|||||| 22 39134715 . T C . . ANN=C|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|16/18|c.1887A>G|p.Gln629Gln|2161/4022|1887/2217|629/738||,C|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|17/19|c.1824A>G|p.Gln608Gln|2183/4055|1824/2154|608/717||,C|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|16/18|c.1824A>G|p.Gln608Gln|2041/3908|1824/2154|608/717||,C|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|17/19|c.1824A>G|p.Gln608Gln|2037/2725|1824/2154|608/717||,C|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|16/18|c.1791A>G|p.Gln597Gln|1842/2486|1791/2121|597/706||,C|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000455125|protein_coding|3/4|c.243A>G|p.Gln81Gln|243/872|243/597|81/198||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.1887A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.1887A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.1887A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.1887A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.1887A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.1887A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.1887A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.1887A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.1887A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.1887A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.1887A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|16/18|c.1887A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|17/18|c.1887A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|18/18|c.1887A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|15/18|c.1887A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|14/18|c.1887A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.1824A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.1824A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.1824A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.1824A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.1824A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.1824A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.1824A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.1824A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.1824A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.1824A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.1824A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|17/19|c.1824A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|18/19|c.1824A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|19/19|c.1824A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|16/19|c.1824A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|15/19|c.1824A>G||||||,C|upstream_gene_variant|MODIFIER|RP3-508I15.20|ENSG00000273096|transcript|ENST00000609428|sense_intronic||n.-1A>G|||||1918|,C|upstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.-1T>C|||||293|,C|upstream_gene_variant|MODIFIER|RP3-508I15.21|ENSG00000272669|transcript|ENST00000609212|antisense||n.-1T>C|||||3915|,C|upstream_gene_variant|MODIFIER|RP3-508I15.22|ENSG00000273076|transcript|ENST00000607991|antisense||n.-1T>C|||||4785|,C|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding||c.*1050T>C|||||411|,C|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484971|nonsense_mediated_decay||n.*92T>C|||||2526|,C|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000487538|nonsense_mediated_decay||n.*273T>C|||||2535|,C|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding||c.*122T>C|||||415|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron||n.*914A>G|||||216|,C|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron||n.*1351A>G|||||631|,C|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron||n.*541A>G|||||1582|,C|non_coding_exon_variant|MODIFIER|RP3-508I15.18|ENSG00000244491|transcript|ENST00000420118|antisense|2/2|n.406T>C||||||,C|non_coding_exon_variant|MODIFIER|RP3-508I15.19|ENSG00000230149|transcript|ENST00000418803|antisense|2/3|n.369T>C||||||,C|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000470642|retained_intron|2/3|n.420A>G|||||| 22 39134956 . G A . . ANN=A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|15/18|c.1764C>T|p.Tyr588Tyr|2038/4022|1764/2217|588/738||,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|16/19|c.1701C>T|p.Tyr567Tyr|2060/4055|1701/2154|567/717||,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|15/18|c.1701C>T|p.Tyr567Tyr|1918/3908|1701/2154|567/717||,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|16/19|c.1701C>T|p.Tyr567Tyr|1914/2725|1701/2154|567/717||,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|15/18|c.1668C>T|p.Tyr556Tyr|1719/2486|1668/2121|556/706||,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000455125|protein_coding|2/4|c.120C>T|p.Tyr40Tyr|120/872|120/597|40/198||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.1764C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.1764C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.1764C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.1764C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.1764C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.1764C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.1764C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.1764C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.1764C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.1764C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.1764C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|16/18|c.1764C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|17/18|c.1764C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|18/18|c.1764C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|15/18|c.1764C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|14/18|c.1764C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.1701C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.1701C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.1701C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.1701C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.1701C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.1701C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.1701C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.1701C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.1701C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.1701C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.1701C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|17/19|c.1701C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|18/19|c.1701C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|19/19|c.1701C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|16/19|c.1701C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|15/19|c.1701C>T||||||,A|upstream_gene_variant|MODIFIER|RP3-508I15.20|ENSG00000273096|transcript|ENST00000609428|sense_intronic||n.-1C>T|||||2159|,A|upstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.-1G>A|||||52|,A|upstream_gene_variant|MODIFIER|RP3-508I15.21|ENSG00000272669|transcript|ENST00000609212|antisense||n.-1G>A|||||3674|,A|upstream_gene_variant|MODIFIER|RP3-508I15.22|ENSG00000273076|transcript|ENST00000607991|antisense||n.-1G>A|||||4544|,A|downstream_gene_variant|MODIFIER|RP3-508I15.18|ENSG00000244491|transcript|ENST00000420118|antisense||n.*461G>A|||||186|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding||c.*1050G>A|||||652|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484971|nonsense_mediated_decay||n.*92G>A|||||2767|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000487538|nonsense_mediated_decay||n.*273G>A|||||2776|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding||c.*122G>A|||||656|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron||n.*1351C>T|||||390|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron||n.*541C>T|||||1341|,A|non_coding_exon_variant|MODIFIER|RP3-508I15.19|ENSG00000230149|transcript|ENST00000418803|antisense|3/3|n.488G>A||||||,A|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000470642|retained_intron|1/3|n.297C>T||||||,A|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron|7/7|n.889C>T|||||| 22 39135019 . G A . . ANN=A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.1727-26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.1727-26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.1727-26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.1727-26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.1727-26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.1727-26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.1727-26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.1727-26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.1727-26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.1727-26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.1727-26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|16/18|c.1727-26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|17/18|c.1727-26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|18/18|c.1727-26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|15/18|c.1727-26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|14/18|c.1727-26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.1664-26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.1664-26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.1664-26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.1664-26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.1664-26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.1664-26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.1664-26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.1664-26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.1664-26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.1664-26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.1664-26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|17/19|c.1664-26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|18/19|c.1664-26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|19/19|c.1664-26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|16/19|c.1664-26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|15/19|c.1664-26C>T||||||,A|upstream_gene_variant|MODIFIER|RP3-508I15.20|ENSG00000273096|transcript|ENST00000609428|sense_intronic||n.-1C>T|||||2222|,A|upstream_gene_variant|MODIFIER|RP3-508I15.21|ENSG00000272669|transcript|ENST00000609212|antisense||n.-1G>A|||||3611|,A|upstream_gene_variant|MODIFIER|RP3-508I15.22|ENSG00000273076|transcript|ENST00000607991|antisense||n.-1G>A|||||4481|,A|downstream_gene_variant|MODIFIER|RP3-508I15.18|ENSG00000244491|transcript|ENST00000420118|antisense||n.*461G>A|||||249|,A|downstream_gene_variant|MODIFIER|RP3-508I15.19|ENSG00000230149|transcript|ENST00000418803|antisense||n.*527G>A|||||24|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding||c.*1050G>A|||||715|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484971|nonsense_mediated_decay||n.*92G>A|||||2830|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000487538|nonsense_mediated_decay||n.*273G>A|||||2839|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding||c.*122G>A|||||719|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron||n.*1351C>T|||||327|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron||n.*541C>T|||||1278|,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|14/17|c.1727-26C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|15/18|c.1664-26C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|14/17|c.1664-26C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|15/18|c.1664-26C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|14/17|c.1631-26C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000455125|protein_coding|1/3|c.83-26C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron|6/6|n.852-26C>T||||||,A|non_coding_exon_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense|1/2|n.12G>A||||||,A|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000470642|retained_intron|1/3|n.234C>T|||||| 22 39135307 . G C . . ANN=C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.1726+40C>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.1726+40C>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.1726+40C>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.1726+40C>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.1726+40C>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.1726+40C>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.1726+40C>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.1726+40C>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.1726+40C>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.1726+40C>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.1726+40C>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|16/18|c.1726+40C>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|17/18|c.1726+40C>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|18/18|c.1726+40C>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|15/18|c.1726+40C>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|14/18|c.1726+40C>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.1663+40C>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.1663+40C>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.1663+40C>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.1663+40C>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.1663+40C>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.1663+40C>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.1663+40C>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.1663+40C>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.1663+40C>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.1663+40C>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.1663+40C>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|17/19|c.1663+40C>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|18/19|c.1663+40C>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|19/19|c.1663+40C>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|16/19|c.1663+40C>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|15/19|c.1663+40C>G||||||,C|upstream_gene_variant|MODIFIER|RP3-508I15.20|ENSG00000273096|transcript|ENST00000609428|sense_intronic||n.-1C>G|||||2510|,C|upstream_gene_variant|MODIFIER|RP3-508I15.21|ENSG00000272669|transcript|ENST00000609212|antisense||n.-1G>C|||||3323|,C|upstream_gene_variant|MODIFIER|RP3-508I15.22|ENSG00000273076|transcript|ENST00000607991|antisense||n.-1G>C|||||4193|,C|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000470642|retained_intron||n.-1C>G|||||55|,C|downstream_gene_variant|MODIFIER|RP3-508I15.18|ENSG00000244491|transcript|ENST00000420118|antisense||n.*461G>C|||||537|,C|downstream_gene_variant|MODIFIER|RP3-508I15.19|ENSG00000230149|transcript|ENST00000418803|antisense||n.*527G>C|||||312|,C|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding||c.*1050G>C|||||1003|,C|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484971|nonsense_mediated_decay||n.*92G>C|||||3118|,C|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000487538|nonsense_mediated_decay||n.*273G>C|||||3127|,C|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding||c.*122G>C|||||1007|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron||n.*1351C>G|||||39|,C|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron||n.*541C>G|||||990|,C|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|14/17|c.1726+40C>G||||||,C|intron_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense|1/1|n.165+135G>C||||||,C|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|15/18|c.1663+40C>G||||||,C|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|14/17|c.1663+40C>G||||||,C|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|15/18|c.1663+40C>G||||||,C|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|14/17|c.1630+40C>G||||||,C|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000455125|protein_coding|1/3|c.82+40C>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron|6/6|n.851+40C>G|||||| 22 39135363 . G A . . ANN=A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|14/18|c.1710C>T|p.Tyr570Tyr|1984/4022|1710/2217|570/738||,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|15/19|c.1647C>T|p.Tyr549Tyr|2006/4055|1647/2154|549/717||,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|14/18|c.1647C>T|p.Tyr549Tyr|1864/3908|1647/2154|549/717||,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|15/19|c.1647C>T|p.Tyr549Tyr|1860/2725|1647/2154|549/717||,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|14/18|c.1614C>T|p.Tyr538Tyr|1665/2486|1614/2121|538/706||,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000455125|protein_coding|1/4|c.66C>T|p.Tyr22Tyr|66/872|66/597|22/198||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.1710C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.1710C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.1710C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.1710C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.1710C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.1710C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.1710C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.1710C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.1710C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.1710C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.1710C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.1647C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.1647C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.1647C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.1647C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.1647C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.1647C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.1647C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.1647C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.1647C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.1647C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.1647C>T||||||,A|upstream_gene_variant|MODIFIER|RP3-508I15.20|ENSG00000273096|transcript|ENST00000609428|sense_intronic||n.-1C>T|||||2566|,A|upstream_gene_variant|MODIFIER|RP3-508I15.21|ENSG00000272669|transcript|ENST00000609212|antisense||n.-1G>A|||||3267|,A|upstream_gene_variant|MODIFIER|RP3-508I15.22|ENSG00000273076|transcript|ENST00000607991|antisense||n.-1G>A|||||4137|,A|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000470642|retained_intron||n.-1C>T|||||111|,A|downstream_gene_variant|MODIFIER|RP3-508I15.18|ENSG00000244491|transcript|ENST00000420118|antisense||n.*461G>A|||||593|,A|downstream_gene_variant|MODIFIER|RP3-508I15.19|ENSG00000230149|transcript|ENST00000418803|antisense||n.*527G>A|||||368|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding||c.*1050G>A|||||1059|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484971|nonsense_mediated_decay||n.*92G>A|||||3174|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000487538|nonsense_mediated_decay||n.*273G>A|||||3183|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding||c.*122G>A|||||1063|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron||n.*541C>T|||||934|,A|intron_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense|1/1|n.165+191G>A||||||,A|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron|6/7|n.835C>T||||||,A|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron|5/5|n.1334C>T|||||| 22 39135454 . C T . . ANN=T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.1642-23G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.1642-23G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.1642-23G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.1642-23G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.1642-23G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.1642-23G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.1642-23G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.1642-23G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.1642-23G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.1642-23G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.1642-23G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|helix|ENST00000405018|protein_coding|14/18|c.1642-23G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|helix|ENST00000405018|protein_coding|13/18|c.1642-23G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.1579-23G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.1579-23G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.1579-23G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.1579-23G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.1579-23G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.1579-23G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.1579-23G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.1579-23G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.1579-23G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.1579-23G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.1579-23G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|helix|ENST00000406622|protein_coding|15/19|c.1579-23G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|helix|ENST00000406622|protein_coding|14/19|c.1579-23G>A||||||,T|upstream_gene_variant|MODIFIER|RP3-508I15.20|ENSG00000273096|transcript|ENST00000609428|sense_intronic||n.-1G>A|||||2657|,T|upstream_gene_variant|MODIFIER|RP3-508I15.21|ENSG00000272669|transcript|ENST00000609212|antisense||n.-1C>T|||||3176|,T|upstream_gene_variant|MODIFIER|RP3-508I15.22|ENSG00000273076|transcript|ENST00000607991|antisense||n.-1C>T|||||4046|,T|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000455125|protein_coding||c.-1G>A|||||26|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000470642|retained_intron||n.-1G>A|||||202|,T|downstream_gene_variant|MODIFIER|RP3-508I15.18|ENSG00000244491|transcript|ENST00000420118|antisense||n.*461C>T|||||684|,T|downstream_gene_variant|MODIFIER|RP3-508I15.19|ENSG00000230149|transcript|ENST00000418803|antisense||n.*527C>T|||||459|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding||c.*1050C>T|||||1150|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484971|nonsense_mediated_decay||n.*92C>T|||||3265|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000487538|nonsense_mediated_decay||n.*273C>T|||||3274|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding||c.*122C>T|||||1154|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron||n.*541G>A|||||843|,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|13/17|c.1642-23G>A||||||,T|intron_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense|1/1|n.165+282C>T||||||,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|14/18|c.1579-23G>A||||||,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|13/17|c.1579-23G>A||||||,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|14/18|c.1579-23G>A||||||,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|13/17|c.1546-23G>A||||||,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron|5/6|n.767-23G>A||||||,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron|4/4|n.1266-23G>A|||||| 22 39135699 . T C . . ANN=C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.1641+28A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.1641+28A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.1641+28A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.1641+28A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.1641+28A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.1641+28A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.1641+28A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.1641+28A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.1641+28A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.1641+28A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.1641+28A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|helix|ENST00000405018|protein_coding|14/18|c.1641+28A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|helix|ENST00000405018|protein_coding|13/18|c.1641+28A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.1578+28A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.1578+28A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.1578+28A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.1578+28A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.1578+28A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.1578+28A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.1578+28A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.1578+28A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.1578+28A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.1578+28A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.1578+28A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|helix|ENST00000406622|protein_coding|15/19|c.1578+28A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|helix|ENST00000406622|protein_coding|14/19|c.1578+28A>G||||||,C|upstream_gene_variant|MODIFIER|RP3-508I15.20|ENSG00000273096|transcript|ENST00000609428|sense_intronic||n.-1A>G|||||2902|,C|upstream_gene_variant|MODIFIER|RP3-508I15.21|ENSG00000272669|transcript|ENST00000609212|antisense||n.-1T>C|||||2931|,C|upstream_gene_variant|MODIFIER|RP3-508I15.22|ENSG00000273076|transcript|ENST00000607991|antisense||n.-1T>C|||||3801|,C|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000455125|protein_coding||c.-1A>G|||||271|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000470642|retained_intron||n.-1A>G|||||447|,C|downstream_gene_variant|MODIFIER|RP3-508I15.18|ENSG00000244491|transcript|ENST00000420118|antisense||n.*461T>C|||||929|,C|downstream_gene_variant|MODIFIER|RP3-508I15.19|ENSG00000230149|transcript|ENST00000418803|antisense||n.*527T>C|||||704|,C|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding||c.*1050T>C|||||1395|,C|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484971|nonsense_mediated_decay||n.*92T>C|||||3510|,C|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000487538|nonsense_mediated_decay||n.*273T>C|||||3519|,C|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding||c.*122T>C|||||1399|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron||n.*541A>G|||||598|,C|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|13/17|c.1641+28A>G||||||,C|intron_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense|1/1|n.165+527T>C||||||,C|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|14/18|c.1578+28A>G||||||,C|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|13/17|c.1578+28A>G||||||,C|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|14/18|c.1578+28A>G||||||,C|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|13/17|c.1545+28A>G||||||,C|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron|5/6|n.766+28A>G||||||,C|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron|4/4|n.1265+28A>G|||||| 22 39135783 . C T . . ANN=T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|13/18|c.1585G>A|p.Ala529Thr|1859/4022|1585/2217|529/738||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|14/19|c.1522G>A|p.Ala508Thr|1881/4055|1522/2154|508/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|13/18|c.1522G>A|p.Ala508Thr|1739/3908|1522/2154|508/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|14/19|c.1522G>A|p.Ala508Thr|1735/2725|1522/2154|508/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|13/18|c.1489G>A|p.Ala497Thr|1540/2486|1489/2121|497/706||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.1585G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.1585G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.1585G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.1585G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.1585G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.1585G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.1585G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.1585G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.1585G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.1585G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.1585G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.1522G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.1522G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.1522G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.1522G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.1522G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.1522G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.1522G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.1522G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.1522G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.1522G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.1522G>A||||||,T|upstream_gene_variant|MODIFIER|RP3-508I15.20|ENSG00000273096|transcript|ENST00000609428|sense_intronic||n.-1G>A|||||2986|,T|upstream_gene_variant|MODIFIER|RP3-508I15.21|ENSG00000272669|transcript|ENST00000609212|antisense||n.-1C>T|||||2847|,T|upstream_gene_variant|MODIFIER|RP3-508I15.22|ENSG00000273076|transcript|ENST00000607991|antisense||n.-1C>T|||||3717|,T|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000455125|protein_coding||c.-1G>A|||||355|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000470642|retained_intron||n.-1G>A|||||531|,T|downstream_gene_variant|MODIFIER|RP3-508I15.18|ENSG00000244491|transcript|ENST00000420118|antisense||n.*461C>T|||||1013|,T|downstream_gene_variant|MODIFIER|RP3-508I15.19|ENSG00000230149|transcript|ENST00000418803|antisense||n.*527C>T|||||788|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding||c.*1050C>T|||||1479|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484971|nonsense_mediated_decay||n.*92C>T|||||3594|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000487538|nonsense_mediated_decay||n.*273C>T|||||3603|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding||c.*122C>T|||||1483|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron||n.*541G>A|||||514|,T|intron_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense|1/1|n.165+611C>T||||||,T|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron|5/7|n.710G>A||||||,T|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron|4/5|n.1209G>A|||||| 22 39135888 . C T . . ANN=T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|13/18|c.1480G>A|p.Val494Met|1754/4022|1480/2217|494/738||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|14/19|c.1417G>A|p.Val473Met|1776/4055|1417/2154|473/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|13/18|c.1417G>A|p.Val473Met|1634/3908|1417/2154|473/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|14/19|c.1417G>A|p.Val473Met|1630/2725|1417/2154|473/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|13/18|c.1384G>A|p.Val462Met|1435/2486|1384/2121|462/706||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.1480G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.1480G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.1480G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.1480G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.1480G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.1480G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.1480G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.1480G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.1480G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.1480G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.1480G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.1417G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.1417G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.1417G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.1417G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.1417G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.1417G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.1417G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.1417G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.1417G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.1417G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.1417G>A||||||,T|upstream_gene_variant|MODIFIER|RP3-508I15.20|ENSG00000273096|transcript|ENST00000609428|sense_intronic||n.-1G>A|||||3091|,T|upstream_gene_variant|MODIFIER|RP3-508I15.21|ENSG00000272669|transcript|ENST00000609212|antisense||n.-1C>T|||||2742|,T|upstream_gene_variant|MODIFIER|RP3-508I15.22|ENSG00000273076|transcript|ENST00000607991|antisense||n.-1C>T|||||3612|,T|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000455125|protein_coding||c.-1G>A|||||460|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000470642|retained_intron||n.-1G>A|||||636|,T|downstream_gene_variant|MODIFIER|RP3-508I15.18|ENSG00000244491|transcript|ENST00000420118|antisense||n.*461C>T|||||1118|,T|downstream_gene_variant|MODIFIER|RP3-508I15.19|ENSG00000230149|transcript|ENST00000418803|antisense||n.*527C>T|||||893|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding||c.*1050C>T|||||1584|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484971|nonsense_mediated_decay||n.*92C>T|||||3699|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000487538|nonsense_mediated_decay||n.*273C>T|||||3708|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding||c.*122C>T|||||1588|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron||n.*541G>A|||||409|,T|intron_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense|1/1|n.165+716C>T||||||,T|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron|5/7|n.605G>A||||||,T|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron|4/5|n.1104G>A|||||| 22 39135933 . G A . . ANN=A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|13/18|c.1435C>T|p.Pro479Ser|1709/4022|1435/2217|479/738||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|14/19|c.1372C>T|p.Pro458Ser|1731/4055|1372/2154|458/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|13/18|c.1372C>T|p.Pro458Ser|1589/3908|1372/2154|458/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|14/19|c.1372C>T|p.Pro458Ser|1585/2725|1372/2154|458/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|13/18|c.1339C>T|p.Pro447Ser|1390/2486|1339/2121|447/706||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.1435C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.1435C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.1435C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.1435C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.1435C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.1435C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.1435C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.1435C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.1435C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.1435C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.1435C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.1372C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.1372C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.1372C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.1372C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.1372C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.1372C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.1372C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.1372C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.1372C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.1372C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.1372C>T||||||,A|upstream_gene_variant|MODIFIER|RP3-508I15.20|ENSG00000273096|transcript|ENST00000609428|sense_intronic||n.-1C>T|||||3136|,A|upstream_gene_variant|MODIFIER|RP3-508I15.21|ENSG00000272669|transcript|ENST00000609212|antisense||n.-1G>A|||||2697|,A|upstream_gene_variant|MODIFIER|RP3-508I15.22|ENSG00000273076|transcript|ENST00000607991|antisense||n.-1G>A|||||3567|,A|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000455125|protein_coding||c.-1C>T|||||505|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000470642|retained_intron||n.-1C>T|||||681|,A|downstream_gene_variant|MODIFIER|RP3-508I15.18|ENSG00000244491|transcript|ENST00000420118|antisense||n.*461G>A|||||1163|,A|downstream_gene_variant|MODIFIER|RP3-508I15.19|ENSG00000230149|transcript|ENST00000418803|antisense||n.*527G>A|||||938|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding||c.*1050G>A|||||1629|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484971|nonsense_mediated_decay||n.*92G>A|||||3744|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000487538|nonsense_mediated_decay||n.*273G>A|||||3753|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding||c.*122G>A|||||1633|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron||n.*541C>T|||||364|,A|intron_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense|1/1|n.165+761G>A||||||,A|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron|5/7|n.560C>T||||||,A|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron|4/5|n.1059C>T|||||| 22 39136272 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|12/18|c.1419C>T|p.Asp473Asp|1693/4022|1419/2217|473/738||,A|splice_region_variant&synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|13/19|c.1356C>T|p.Asp452Asp|1715/4055|1356/2154|452/717||,A|splice_region_variant&synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|12/18|c.1356C>T|p.Asp452Asp|1573/3908|1356/2154|452/717||,A|splice_region_variant&synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|13/19|c.1356C>T|p.Asp452Asp|1569/2725|1356/2154|452/717||,A|splice_region_variant&synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|12/18|c.1323C>T|p.Asp441Asp|1374/2486|1323/2121|441/706||,A|splice_region_variant&non_coding_exon_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron|4/7|n.544C>T||||||,A|splice_region_variant&non_coding_exon_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron|3/5|n.1043C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.1419C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.1419C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.1419C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.1419C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.1419C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.1419C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.1419C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.1419C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.1419C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.1419C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.1419C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.1356C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.1356C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.1356C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.1356C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.1356C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.1356C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.1356C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.1356C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.1356C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.1356C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.1356C>T||||||,A|upstream_gene_variant|MODIFIER|RP3-508I15.20|ENSG00000273096|transcript|ENST00000609428|sense_intronic||n.-1C>T|||||3475|,A|upstream_gene_variant|MODIFIER|RP3-508I15.21|ENSG00000272669|transcript|ENST00000609212|antisense||n.-1G>A|||||2358|,A|upstream_gene_variant|MODIFIER|RP3-508I15.22|ENSG00000273076|transcript|ENST00000607991|antisense||n.-1G>A|||||3228|,A|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000455125|protein_coding||c.-1C>T|||||844|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000470642|retained_intron||n.-1C>T|||||1020|,A|downstream_gene_variant|MODIFIER|RP3-508I15.18|ENSG00000244491|transcript|ENST00000420118|antisense||n.*461G>A|||||1502|,A|downstream_gene_variant|MODIFIER|RP3-508I15.19|ENSG00000230149|transcript|ENST00000418803|antisense||n.*527G>A|||||1277|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding||c.*1050G>A|||||1968|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484971|nonsense_mediated_decay||n.*92G>A|||||4083|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000487538|nonsense_mediated_decay||n.*273G>A|||||4092|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding||c.*122G>A|||||1972|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron||n.*541C>T|||||25|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding||c.*431C>T|||||4808|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense|1/1|n.165+1100G>A|||||| 22 39136274 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|12/18|c.1417G>A|p.Asp473Asn|1691/4022|1417/2217|473/738||,T|missense_variant&splice_region_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|13/19|c.1354G>A|p.Asp452Asn|1713/4055|1354/2154|452/717||,T|missense_variant&splice_region_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|12/18|c.1354G>A|p.Asp452Asn|1571/3908|1354/2154|452/717||,T|missense_variant&splice_region_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|13/19|c.1354G>A|p.Asp452Asn|1567/2725|1354/2154|452/717||,T|missense_variant&splice_region_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|12/18|c.1321G>A|p.Asp441Asn|1372/2486|1321/2121|441/706||,T|splice_region_variant&non_coding_exon_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron|4/7|n.542G>A||||||,T|splice_region_variant&non_coding_exon_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron|3/5|n.1041G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.1417G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.1417G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.1417G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.1417G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.1417G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.1417G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.1417G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.1417G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.1417G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.1417G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.1417G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.1354G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.1354G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.1354G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.1354G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.1354G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.1354G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.1354G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.1354G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.1354G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.1354G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.1354G>A||||||,T|upstream_gene_variant|MODIFIER|RP3-508I15.20|ENSG00000273096|transcript|ENST00000609428|sense_intronic||n.-1G>A|||||3477|,T|upstream_gene_variant|MODIFIER|RP3-508I15.21|ENSG00000272669|transcript|ENST00000609212|antisense||n.-1C>T|||||2356|,T|upstream_gene_variant|MODIFIER|RP3-508I15.22|ENSG00000273076|transcript|ENST00000607991|antisense||n.-1C>T|||||3226|,T|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000455125|protein_coding||c.-1G>A|||||846|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000470642|retained_intron||n.-1G>A|||||1022|,T|downstream_gene_variant|MODIFIER|RP3-508I15.18|ENSG00000244491|transcript|ENST00000420118|antisense||n.*461C>T|||||1504|,T|downstream_gene_variant|MODIFIER|RP3-508I15.19|ENSG00000230149|transcript|ENST00000418803|antisense||n.*527C>T|||||1279|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding||c.*1050C>T|||||1970|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484971|nonsense_mediated_decay||n.*92C>T|||||4085|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000487538|nonsense_mediated_decay||n.*273C>T|||||4094|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding||c.*122C>T|||||1974|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron||n.*541G>A|||||23|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding||c.*431G>A|||||4806|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense|1/1|n.165+1102C>T|||||| 22 39136283 . C T . . ANN=T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|12/18|c.1408G>A|p.Val470Met|1682/4022|1408/2217|470/738||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|13/19|c.1345G>A|p.Val449Met|1704/4055|1345/2154|449/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|12/18|c.1345G>A|p.Val449Met|1562/3908|1345/2154|449/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|13/19|c.1345G>A|p.Val449Met|1558/2725|1345/2154|449/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|12/18|c.1312G>A|p.Val438Met|1363/2486|1312/2121|438/706||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.1408G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.1408G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.1408G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.1408G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.1408G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.1408G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.1408G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.1408G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.1408G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.1408G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.1408G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.1345G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.1345G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.1345G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.1345G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.1345G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.1345G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.1345G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.1345G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.1345G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.1345G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.1345G>A||||||,T|upstream_gene_variant|MODIFIER|RP3-508I15.20|ENSG00000273096|transcript|ENST00000609428|sense_intronic||n.-1G>A|||||3486|,T|upstream_gene_variant|MODIFIER|RP3-508I15.21|ENSG00000272669|transcript|ENST00000609212|antisense||n.-1C>T|||||2347|,T|upstream_gene_variant|MODIFIER|RP3-508I15.22|ENSG00000273076|transcript|ENST00000607991|antisense||n.-1C>T|||||3217|,T|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000455125|protein_coding||c.-1G>A|||||855|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000470642|retained_intron||n.-1G>A|||||1031|,T|downstream_gene_variant|MODIFIER|RP3-508I15.18|ENSG00000244491|transcript|ENST00000420118|antisense||n.*461C>T|||||1513|,T|downstream_gene_variant|MODIFIER|RP3-508I15.19|ENSG00000230149|transcript|ENST00000418803|antisense||n.*527C>T|||||1288|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding||c.*1050C>T|||||1979|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484971|nonsense_mediated_decay||n.*92C>T|||||4094|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000487538|nonsense_mediated_decay||n.*273C>T|||||4103|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding||c.*122C>T|||||1983|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron||n.*541G>A|||||14|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding||c.*431G>A|||||4797|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense|1/1|n.165+1111C>T||||||,T|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron|4/7|n.533G>A||||||,T|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron|3/5|n.1032G>A|||||| 22 39136423 . G A . . ANN=A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|12/18|c.1268C>T|p.Ser423Phe|1542/4022|1268/2217|423/738||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|13/19|c.1205C>T|p.Ser402Phe|1564/4055|1205/2154|402/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|12/18|c.1205C>T|p.Ser402Phe|1422/3908|1205/2154|402/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|13/19|c.1205C>T|p.Ser402Phe|1418/2725|1205/2154|402/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|12/18|c.1172C>T|p.Ser391Phe|1223/2486|1172/2121|391/706||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.1268C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.1268C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.1268C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.1268C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.1268C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.1268C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.1268C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.1268C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.1268C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.1268C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.1268C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000405018|protein_coding|9/18|c.1268C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000405018|protein_coding|11/18|c.1268C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000405018|protein_coding|10/18|c.1268C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000405018|protein_coding|12/18|c.1268C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.1205C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.1205C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.1205C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.1205C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.1205C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.1205C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.1205C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.1205C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.1205C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.1205C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.1205C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000406622|protein_coding|10/19|c.1205C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000406622|protein_coding|12/19|c.1205C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000406622|protein_coding|11/19|c.1205C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000406622|protein_coding|13/19|c.1205C>T||||||,A|upstream_gene_variant|MODIFIER|RP3-508I15.20|ENSG00000273096|transcript|ENST00000609428|sense_intronic||n.-1C>T|||||3626|,A|upstream_gene_variant|MODIFIER|RP3-508I15.21|ENSG00000272669|transcript|ENST00000609212|antisense||n.-1G>A|||||2207|,A|upstream_gene_variant|MODIFIER|RP3-508I15.22|ENSG00000273076|transcript|ENST00000607991|antisense||n.-1G>A|||||3077|,A|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000455125|protein_coding||c.-1C>T|||||995|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000470642|retained_intron||n.-1C>T|||||1171|,A|downstream_gene_variant|MODIFIER|RP3-508I15.18|ENSG00000244491|transcript|ENST00000420118|antisense||n.*461G>A|||||1653|,A|downstream_gene_variant|MODIFIER|RP3-508I15.19|ENSG00000230149|transcript|ENST00000418803|antisense||n.*527G>A|||||1428|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding||c.*1050G>A|||||2119|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484971|nonsense_mediated_decay||n.*92G>A|||||4234|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000487538|nonsense_mediated_decay||n.*273G>A|||||4243|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding||c.*122G>A|||||2123|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding||c.*431C>T|||||4657|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense|1/1|n.165+1251G>A||||||,A|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron|4/7|n.393C>T||||||,A|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron|3/5|n.892C>T||||||,A|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron|4/4|n.415C>T|||||| 22 39137043 . G T . . ANN=T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|11/18|c.1222C>A|p.Arg408Ser|1496/4022|1222/2217|408/738||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|12/19|c.1159C>A|p.Arg387Ser|1518/4055|1159/2154|387/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|11/18|c.1159C>A|p.Arg387Ser|1376/3908|1159/2154|387/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|12/19|c.1159C>A|p.Arg387Ser|1372/2725|1159/2154|387/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|11/18|c.1126C>A|p.Arg376Ser|1177/2486|1126/2121|376/706||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.1222C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.1222C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.1222C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.1222C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.1222C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.1222C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.1222C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.1222C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.1222C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.1222C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.1222C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000405018|protein_coding|9/18|c.1222C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000405018|protein_coding|11/18|c.1222C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000405018|protein_coding|10/18|c.1222C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000405018|protein_coding|12/18|c.1222C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.1159C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.1159C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.1159C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.1159C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.1159C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.1159C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.1159C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.1159C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.1159C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.1159C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.1159C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000406622|protein_coding|10/19|c.1159C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000406622|protein_coding|12/19|c.1159C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000406622|protein_coding|11/19|c.1159C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000406622|protein_coding|13/19|c.1159C>A||||||,T|upstream_gene_variant|MODIFIER|RP3-508I15.20|ENSG00000273096|transcript|ENST00000609428|sense_intronic||n.-1C>A|||||4246|,T|upstream_gene_variant|MODIFIER|RP3-508I15.21|ENSG00000272669|transcript|ENST00000609212|antisense||n.-1G>T|||||1587|,T|upstream_gene_variant|MODIFIER|RP3-508I15.22|ENSG00000273076|transcript|ENST00000607991|antisense||n.-1G>T|||||2457|,T|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000455125|protein_coding||c.-1C>A|||||1615|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000470642|retained_intron||n.-1C>A|||||1791|,T|downstream_gene_variant|MODIFIER|RP3-508I15.18|ENSG00000244491|transcript|ENST00000420118|antisense||n.*461G>T|||||2273|,T|downstream_gene_variant|MODIFIER|RP3-508I15.19|ENSG00000230149|transcript|ENST00000418803|antisense||n.*527G>T|||||2048|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding||c.*1050G>T|||||2739|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484971|nonsense_mediated_decay||n.*92G>T|||||4854|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000487538|nonsense_mediated_decay||n.*273G>T|||||4863|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding||c.*122G>T|||||2743|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding||c.*431C>A|||||4037|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding||c.*1012C>A|||||4649|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense|1/1|n.165+1871G>T||||||,T|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron|3/7|n.229C>A||||||,T|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron|3/5|n.272C>A||||||,T|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron|3/4|n.369C>A|||||| 22 39137076 . A G . . ANN=G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.1210-21T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.1210-21T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.1210-21T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.1210-21T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.1210-21T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.1210-21T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.1210-21T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.1210-21T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.1210-21T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.1210-21T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.1210-21T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000405018|protein_coding|9/18|c.1210-21T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000405018|protein_coding|11/18|c.1210-21T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000405018|protein_coding|10/18|c.1210-21T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000405018|protein_coding|12/18|c.1210-21T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.1147-21T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.1147-21T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.1147-21T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.1147-21T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.1147-21T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.1147-21T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.1147-21T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.1147-21T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.1147-21T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.1147-21T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.1147-21T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000406622|protein_coding|10/19|c.1147-21T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000406622|protein_coding|12/19|c.1147-21T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000406622|protein_coding|11/19|c.1147-21T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000406622|protein_coding|13/19|c.1147-21T>C||||||,G|upstream_gene_variant|MODIFIER|RP3-508I15.20|ENSG00000273096|transcript|ENST00000609428|sense_intronic||n.-1T>C|||||4279|,G|upstream_gene_variant|MODIFIER|RP3-508I15.21|ENSG00000272669|transcript|ENST00000609212|antisense||n.-1A>G|||||1554|,G|upstream_gene_variant|MODIFIER|RP3-508I15.22|ENSG00000273076|transcript|ENST00000607991|antisense||n.-1A>G|||||2424|,G|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000455125|protein_coding||c.-1T>C|||||1648|WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000470642|retained_intron||n.-1T>C|||||1824|,G|downstream_gene_variant|MODIFIER|RP3-508I15.18|ENSG00000244491|transcript|ENST00000420118|antisense||n.*461A>G|||||2306|,G|downstream_gene_variant|MODIFIER|RP3-508I15.19|ENSG00000230149|transcript|ENST00000418803|antisense||n.*527A>G|||||2081|,G|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding||c.*1050A>G|||||2772|,G|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484971|nonsense_mediated_decay||n.*92A>G|||||4887|,G|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000487538|nonsense_mediated_decay||n.*273A>G|||||4896|,G|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding||c.*122A>G|||||2776|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding||c.*431T>C|||||4004|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding||c.*1012T>C|||||4616|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|10/17|c.1210-21T>C||||||,G|intron_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense|1/1|n.165+1904A>G||||||,G|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|11/18|c.1147-21T>C||||||,G|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|10/17|c.1147-21T>C||||||,G|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|11/18|c.1147-21T>C||||||,G|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|10/17|c.1114-21T>C||||||,G|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron|2/6|n.217-21T>C||||||,G|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron|2/4|n.260-21T>C||||||,G|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron|2/3|n.357-21T>C|||||| 22 39137478 . G A . . ANN=A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.1209+21C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.1209+21C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.1209+21C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.1209+21C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.1209+21C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.1209+21C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.1209+21C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.1209+21C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.1209+21C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.1209+21C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.1209+21C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000405018|protein_coding|9/18|c.1209+21C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000405018|protein_coding|11/18|c.1209+21C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000405018|protein_coding|10/18|c.1209+21C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000405018|protein_coding|12/18|c.1209+21C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.1146+21C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.1146+21C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.1146+21C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.1146+21C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.1146+21C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.1146+21C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.1146+21C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.1146+21C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.1146+21C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.1146+21C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.1146+21C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000406622|protein_coding|10/19|c.1146+21C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000406622|protein_coding|12/19|c.1146+21C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000406622|protein_coding|11/19|c.1146+21C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000406622|protein_coding|13/19|c.1146+21C>T||||||,A|upstream_gene_variant|MODIFIER|RP3-508I15.20|ENSG00000273096|transcript|ENST00000609428|sense_intronic||n.-1C>T|||||4681|,A|upstream_gene_variant|MODIFIER|RP3-508I15.21|ENSG00000272669|transcript|ENST00000609212|antisense||n.-1G>A|||||1152|,A|upstream_gene_variant|MODIFIER|RP3-508I15.22|ENSG00000273076|transcript|ENST00000607991|antisense||n.-1G>A|||||2022|,A|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000455125|protein_coding||c.-1C>T|||||2050|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000470642|retained_intron||n.-1C>T|||||2226|,A|downstream_gene_variant|MODIFIER|RP3-508I15.18|ENSG00000244491|transcript|ENST00000420118|antisense||n.*461G>A|||||2708|,A|downstream_gene_variant|MODIFIER|RP3-508I15.19|ENSG00000230149|transcript|ENST00000418803|antisense||n.*527G>A|||||2483|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding||c.*1050G>A|||||3174|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding||c.*122G>A|||||3178|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding||c.*431C>T|||||3602|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding||c.*1012C>T|||||4214|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|10/17|c.1209+21C>T||||||,A|intron_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense|1/1|n.165+2306G>A||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|11/18|c.1146+21C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|10/17|c.1146+21C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|11/18|c.1146+21C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|10/17|c.1113+21C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron|2/6|n.216+21C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron|2/4|n.259+21C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron|2/3|n.356+21C>T|||||| 22 39137484 . C T . . ANN=T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.1209+15G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.1209+15G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.1209+15G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.1209+15G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.1209+15G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.1209+15G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.1209+15G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.1209+15G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.1209+15G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.1209+15G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.1209+15G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000405018|protein_coding|9/18|c.1209+15G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000405018|protein_coding|11/18|c.1209+15G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000405018|protein_coding|10/18|c.1209+15G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000405018|protein_coding|12/18|c.1209+15G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.1146+15G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.1146+15G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.1146+15G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.1146+15G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.1146+15G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.1146+15G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.1146+15G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.1146+15G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.1146+15G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.1146+15G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.1146+15G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000406622|protein_coding|10/19|c.1146+15G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000406622|protein_coding|12/19|c.1146+15G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000406622|protein_coding|11/19|c.1146+15G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000406622|protein_coding|13/19|c.1146+15G>A||||||,T|upstream_gene_variant|MODIFIER|RP3-508I15.20|ENSG00000273096|transcript|ENST00000609428|sense_intronic||n.-1G>A|||||4687|,T|upstream_gene_variant|MODIFIER|RP3-508I15.21|ENSG00000272669|transcript|ENST00000609212|antisense||n.-1C>T|||||1146|,T|upstream_gene_variant|MODIFIER|RP3-508I15.22|ENSG00000273076|transcript|ENST00000607991|antisense||n.-1C>T|||||2016|,T|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000455125|protein_coding||c.-1G>A|||||2056|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000470642|retained_intron||n.-1G>A|||||2232|,T|downstream_gene_variant|MODIFIER|RP3-508I15.18|ENSG00000244491|transcript|ENST00000420118|antisense||n.*461C>T|||||2714|,T|downstream_gene_variant|MODIFIER|RP3-508I15.19|ENSG00000230149|transcript|ENST00000418803|antisense||n.*527C>T|||||2489|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding||c.*1050C>T|||||3180|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding||c.*122C>T|||||3184|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding||c.*431G>A|||||3596|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding||c.*1012G>A|||||4208|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|10/17|c.1209+15G>A||||||,T|intron_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense|1/1|n.165+2312C>T||||||,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|11/18|c.1146+15G>A||||||,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|10/17|c.1146+15G>A||||||,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|11/18|c.1146+15G>A||||||,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|10/17|c.1113+15G>A||||||,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron|2/6|n.216+15G>A||||||,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron|2/4|n.259+15G>A||||||,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron|2/3|n.356+15G>A|||||| 22 39137513 . C T . . ANN=T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|10/18|c.1195G>A|p.Val399Ile|1469/4022|1195/2217|399/738||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|11/19|c.1132G>A|p.Val378Ile|1491/4055|1132/2154|378/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|10/18|c.1132G>A|p.Val378Ile|1349/3908|1132/2154|378/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|11/19|c.1132G>A|p.Val378Ile|1345/2725|1132/2154|378/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|10/18|c.1099G>A|p.Val367Ile|1150/2486|1099/2121|367/706||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.1195G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.1195G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.1195G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.1195G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.1195G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.1195G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.1195G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.1195G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.1195G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.1195G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.1195G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000405018|protein_coding|9/18|c.1195G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000405018|protein_coding|11/18|c.1195G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000405018|protein_coding|10/18|c.1195G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000405018|protein_coding|12/18|c.1195G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.1132G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.1132G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.1132G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.1132G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.1132G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.1132G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.1132G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.1132G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.1132G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.1132G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.1132G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000406622|protein_coding|10/19|c.1132G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000406622|protein_coding|12/19|c.1132G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000406622|protein_coding|11/19|c.1132G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000406622|protein_coding|13/19|c.1132G>A||||||,T|upstream_gene_variant|MODIFIER|RP3-508I15.20|ENSG00000273096|transcript|ENST00000609428|sense_intronic||n.-1G>A|||||4716|,T|upstream_gene_variant|MODIFIER|RP3-508I15.21|ENSG00000272669|transcript|ENST00000609212|antisense||n.-1C>T|||||1117|,T|upstream_gene_variant|MODIFIER|RP3-508I15.22|ENSG00000273076|transcript|ENST00000607991|antisense||n.-1C>T|||||1987|,T|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000455125|protein_coding||c.-1G>A|||||2085|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000470642|retained_intron||n.-1G>A|||||2261|,T|downstream_gene_variant|MODIFIER|RP3-508I15.18|ENSG00000244491|transcript|ENST00000420118|antisense||n.*461C>T|||||2743|,T|downstream_gene_variant|MODIFIER|RP3-508I15.19|ENSG00000230149|transcript|ENST00000418803|antisense||n.*527C>T|||||2518|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding||c.*1050C>T|||||3209|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding||c.*122C>T|||||3213|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding||c.*431G>A|||||3567|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding||c.*1012G>A|||||4179|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense|1/1|n.165+2341C>T||||||,T|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron|2/7|n.202G>A||||||,T|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron|2/5|n.245G>A||||||,T|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron|2/4|n.342G>A|||||| 22 39137617 . G A . . ANN=A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.1132-41C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.1132-41C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.1132-41C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.1132-41C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.1132-41C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.1132-41C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.1132-41C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.1132-41C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.1132-41C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.1132-41C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.1132-41C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000405018|protein_coding|9/18|c.1132-41C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000405018|protein_coding|11/18|c.1132-41C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000405018|protein_coding|10/18|c.1132-41C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000405018|protein_coding|12/18|c.1132-41C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.1069-41C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.1069-41C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.1069-41C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.1069-41C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.1069-41C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.1069-41C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.1069-41C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.1069-41C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.1069-41C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.1069-41C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.1069-41C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000406622|protein_coding|10/19|c.1069-41C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000406622|protein_coding|12/19|c.1069-41C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000406622|protein_coding|11/19|c.1069-41C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000406622|protein_coding|13/19|c.1069-41C>T||||||,A|upstream_gene_variant|MODIFIER|RP3-508I15.20|ENSG00000273096|transcript|ENST00000609428|sense_intronic||n.-1C>T|||||4820|,A|upstream_gene_variant|MODIFIER|RP3-508I15.21|ENSG00000272669|transcript|ENST00000609212|antisense||n.-1G>A|||||1013|,A|upstream_gene_variant|MODIFIER|RP3-508I15.22|ENSG00000273076|transcript|ENST00000607991|antisense||n.-1G>A|||||1883|,A|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000455125|protein_coding||c.-1C>T|||||2189|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000470642|retained_intron||n.-1C>T|||||2365|,A|downstream_gene_variant|MODIFIER|RP3-508I15.18|ENSG00000244491|transcript|ENST00000420118|antisense||n.*461G>A|||||2847|,A|downstream_gene_variant|MODIFIER|RP3-508I15.19|ENSG00000230149|transcript|ENST00000418803|antisense||n.*527G>A|||||2622|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding||c.*1050G>A|||||3313|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding||c.*122G>A|||||3317|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding||c.*431C>T|||||3463|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding||c.*1012C>T|||||4075|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|9/17|c.1132-41C>T||||||,A|intron_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense|1/1|n.165+2445G>A||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|10/18|c.1069-41C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|9/17|c.1069-41C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|10/18|c.1069-41C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|9/17|c.1036-41C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron|1/6|n.139-41C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron|1/4|n.182-41C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron|1/3|n.279-41C>T|||||| 22 39138331 . C T . . ANN=T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|9/18|c.1106G>A|p.Arg369His|1380/4022|1106/2217|369/738||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|10/19|c.1043G>A|p.Arg348His|1402/4055|1043/2154|348/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|9/18|c.1043G>A|p.Arg348His|1260/3908|1043/2154|348/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|10/19|c.1043G>A|p.Arg348His|1256/2725|1043/2154|348/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|9/18|c.1010G>A|p.Arg337His|1061/2486|1010/2121|337/706||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.1106G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.1106G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.1106G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.1106G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.1106G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.1106G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.1106G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.1106G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.1106G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.1106G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.1106G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000405018|protein_coding|9/18|c.1106G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000405018|protein_coding|11/18|c.1106G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000405018|protein_coding|10/18|c.1106G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000405018|protein_coding|12/18|c.1106G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.1043G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.1043G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.1043G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.1043G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.1043G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.1043G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.1043G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.1043G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.1043G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.1043G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.1043G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000406622|protein_coding|10/19|c.1043G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000406622|protein_coding|12/19|c.1043G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000406622|protein_coding|11/19|c.1043G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000406622|protein_coding|13/19|c.1043G>A||||||,T|upstream_gene_variant|MODIFIER|RP3-508I15.21|ENSG00000272669|transcript|ENST00000609212|antisense||n.-1C>T|||||299|,T|upstream_gene_variant|MODIFIER|RP3-508I15.22|ENSG00000273076|transcript|ENST00000607991|antisense||n.-1C>T|||||1169|,T|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000455125|protein_coding||c.-1G>A|||||2903|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000470642|retained_intron||n.-1G>A|||||3079|,T|downstream_gene_variant|MODIFIER|RP3-508I15.18|ENSG00000244491|transcript|ENST00000420118|antisense||n.*461C>T|||||3561|,T|downstream_gene_variant|MODIFIER|RP3-508I15.19|ENSG00000230149|transcript|ENST00000418803|antisense||n.*527C>T|||||3336|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding||c.*1050C>T|||||4027|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding||c.*122C>T|||||4031|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding||c.*431G>A|||||2749|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding||c.*1012G>A|||||3361|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense|1/1|n.165+3159C>T||||||,T|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron|1/7|n.113G>A||||||,T|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron|1/5|n.156G>A||||||,T|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron|1/4|n.253G>A|||||| 22 39138332 . G A . . ANN=A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|9/18|c.1105C>T|p.Arg369Cys|1379/4022|1105/2217|369/738||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|10/19|c.1042C>T|p.Arg348Cys|1401/4055|1042/2154|348/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|9/18|c.1042C>T|p.Arg348Cys|1259/3908|1042/2154|348/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|10/19|c.1042C>T|p.Arg348Cys|1255/2725|1042/2154|348/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|9/18|c.1009C>T|p.Arg337Cys|1060/2486|1009/2121|337/706||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.1105C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.1105C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.1105C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.1105C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.1105C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.1105C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.1105C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.1105C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.1105C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.1105C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.1105C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000405018|protein_coding|9/18|c.1105C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000405018|protein_coding|11/18|c.1105C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000405018|protein_coding|10/18|c.1105C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000405018|protein_coding|12/18|c.1105C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.1042C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.1042C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.1042C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.1042C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.1042C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.1042C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.1042C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.1042C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.1042C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.1042C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.1042C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000406622|protein_coding|10/19|c.1042C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000406622|protein_coding|12/19|c.1042C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000406622|protein_coding|11/19|c.1042C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000406622|protein_coding|13/19|c.1042C>T||||||,A|upstream_gene_variant|MODIFIER|RP3-508I15.21|ENSG00000272669|transcript|ENST00000609212|antisense||n.-1G>A|||||298|,A|upstream_gene_variant|MODIFIER|RP3-508I15.22|ENSG00000273076|transcript|ENST00000607991|antisense||n.-1G>A|||||1168|,A|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000455125|protein_coding||c.-1C>T|||||2904|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000470642|retained_intron||n.-1C>T|||||3080|,A|downstream_gene_variant|MODIFIER|RP3-508I15.18|ENSG00000244491|transcript|ENST00000420118|antisense||n.*461G>A|||||3562|,A|downstream_gene_variant|MODIFIER|RP3-508I15.19|ENSG00000230149|transcript|ENST00000418803|antisense||n.*527G>A|||||3337|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding||c.*1050G>A|||||4028|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding||c.*122G>A|||||4032|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding||c.*431C>T|||||2748|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding||c.*1012C>T|||||3360|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense|1/1|n.165+3160G>A||||||,A|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron|1/7|n.112C>T||||||,A|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron|1/5|n.155C>T||||||,A|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron|1/4|n.252C>T|||||| 22 39138376 . T C . . ANN=C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|9/18|c.1061A>G|p.Glu354Gly|1335/4022|1061/2217|354/738||,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|10/19|c.998A>G|p.Glu333Gly|1357/4055|998/2154|333/717||,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|9/18|c.998A>G|p.Glu333Gly|1215/3908|998/2154|333/717||,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|10/19|c.998A>G|p.Glu333Gly|1211/2725|998/2154|333/717||,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|9/18|c.965A>G|p.Glu322Gly|1016/2486|965/2121|322/706||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.1061A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.1061A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.1061A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.1061A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.1061A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.1061A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.1061A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.1061A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.1061A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.1061A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.1061A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.998A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.998A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.998A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.998A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.998A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.998A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.998A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.998A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.998A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.998A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.998A>G||||||,C|upstream_gene_variant|MODIFIER|RP3-508I15.21|ENSG00000272669|transcript|ENST00000609212|antisense||n.-1T>C|||||254|,C|upstream_gene_variant|MODIFIER|RP3-508I15.22|ENSG00000273076|transcript|ENST00000607991|antisense||n.-1T>C|||||1124|,C|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000455125|protein_coding||c.-1A>G|||||2948|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000470642|retained_intron||n.-1A>G|||||3124|,C|downstream_gene_variant|MODIFIER|RP3-508I15.18|ENSG00000244491|transcript|ENST00000420118|antisense||n.*461T>C|||||3606|,C|downstream_gene_variant|MODIFIER|RP3-508I15.19|ENSG00000230149|transcript|ENST00000418803|antisense||n.*527T>C|||||3381|,C|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding||c.*1050T>C|||||4072|,C|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding||c.*122T>C|||||4076|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding||c.*431A>G|||||2704|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding||c.*1012A>G|||||3316|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense|1/1|n.165+3204T>C||||||,C|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron|1/7|n.68A>G||||||,C|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron|1/5|n.111A>G||||||,C|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron|1/4|n.208A>G|||||| 22 39138389 . G T . . ANN=T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|9/18|c.1048C>A|p.Leu350Met|1322/4022|1048/2217|350/738||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|10/19|c.985C>A|p.Leu329Met|1344/4055|985/2154|329/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|9/18|c.985C>A|p.Leu329Met|1202/3908|985/2154|329/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|10/19|c.985C>A|p.Leu329Met|1198/2725|985/2154|329/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|9/18|c.952C>A|p.Leu318Met|1003/2486|952/2121|318/706||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.1048C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.1048C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.1048C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.1048C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.1048C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.1048C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.1048C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.1048C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.1048C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.1048C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.1048C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.985C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.985C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.985C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.985C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.985C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.985C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.985C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.985C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.985C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.985C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.985C>A||||||,T|upstream_gene_variant|MODIFIER|RP3-508I15.21|ENSG00000272669|transcript|ENST00000609212|antisense||n.-1G>T|||||241|,T|upstream_gene_variant|MODIFIER|RP3-508I15.22|ENSG00000273076|transcript|ENST00000607991|antisense||n.-1G>T|||||1111|,T|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000455125|protein_coding||c.-1C>A|||||2961|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000470642|retained_intron||n.-1C>A|||||3137|,T|downstream_gene_variant|MODIFIER|RP3-508I15.18|ENSG00000244491|transcript|ENST00000420118|antisense||n.*461G>T|||||3619|,T|downstream_gene_variant|MODIFIER|RP3-508I15.19|ENSG00000230149|transcript|ENST00000418803|antisense||n.*527G>T|||||3394|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding||c.*1050G>T|||||4085|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding||c.*122G>T|||||4089|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding||c.*431C>A|||||2691|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding||c.*1012C>A|||||3303|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense|1/1|n.165+3217G>T||||||,T|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron|1/7|n.55C>A||||||,T|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron|1/5|n.98C>A||||||,T|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron|1/4|n.195C>A|||||| 22 39138399 . G A . . ANN=A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|9/18|c.1038C>T|p.His346His|1312/4022|1038/2217|346/738||,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|10/19|c.975C>T|p.His325His|1334/4055|975/2154|325/717||,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|9/18|c.975C>T|p.His325His|1192/3908|975/2154|325/717||,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|10/19|c.975C>T|p.His325His|1188/2725|975/2154|325/717||,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|9/18|c.942C>T|p.His314His|993/2486|942/2121|314/706||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.1038C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.1038C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.1038C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.1038C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.1038C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.1038C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.1038C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.1038C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.1038C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.1038C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.1038C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.975C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.975C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.975C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.975C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.975C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.975C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.975C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.975C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.975C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.975C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.975C>T||||||,A|upstream_gene_variant|MODIFIER|RP3-508I15.21|ENSG00000272669|transcript|ENST00000609212|antisense||n.-1G>A|||||231|,A|upstream_gene_variant|MODIFIER|RP3-508I15.22|ENSG00000273076|transcript|ENST00000607991|antisense||n.-1G>A|||||1101|,A|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000455125|protein_coding||c.-1C>T|||||2971|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000470642|retained_intron||n.-1C>T|||||3147|,A|downstream_gene_variant|MODIFIER|RP3-508I15.18|ENSG00000244491|transcript|ENST00000420118|antisense||n.*461G>A|||||3629|,A|downstream_gene_variant|MODIFIER|RP3-508I15.19|ENSG00000230149|transcript|ENST00000418803|antisense||n.*527G>A|||||3404|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding||c.*1050G>A|||||4095|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding||c.*122G>A|||||4099|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding||c.*431C>T|||||2681|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding||c.*1012C>T|||||3293|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense|1/1|n.165+3227G>A||||||,A|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron|1/7|n.45C>T||||||,A|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron|1/5|n.88C>T||||||,A|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron|1/4|n.185C>T|||||| 22 39141641 . A G . . ANN=G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.876+48T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.876+48T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.876+48T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.876+48T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.876+48T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.876+48T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.876+48T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.876+48T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.876+48T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.876+48T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.876+48T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.813+48T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.813+48T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.813+48T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.813+48T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.813+48T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.813+48T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.813+48T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.813+48T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.813+48T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.813+48T>C||||||,G|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.813+48T>C||||||,G|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron||n.-1T>C|||||3198|,G|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron||n.-1T>C|||||3155|,G|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron||n.-1T>C|||||3058|,G|downstream_gene_variant|MODIFIER|RP3-508I15.21|ENSG00000272669|transcript|ENST00000609212|antisense||n.*491A>G|||||2521|,G|downstream_gene_variant|MODIFIER|RP3-508I15.22|ENSG00000273076|transcript|ENST00000607991|antisense||n.*416A>G|||||1726|,G|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding||c.*1012T>C|||||51|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000456894|protein_coding||c.*1004T>C|||||4129|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000480307|retained_intron||n.*560T>C|||||4130|,G|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000420859|protein_coding||c.*538T>C|||||4589|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|8/17|c.876+48T>C||||||,G|intron_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense|1/1|n.166-3071A>G||||||,G|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|9/18|c.813+48T>C||||||,G|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|8/17|c.813+48T>C||||||,G|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|9/18|c.813+48T>C||||||,G|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|8/17|c.780+48T>C||||||,G|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding|4/4|c.381+48T>C||||||WARNING_TRANSCRIPT_NO_START_CODON 22 39141668 . C T . . ANN=T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.876+21G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.876+21G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.876+21G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.876+21G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.876+21G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.876+21G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.876+21G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.876+21G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.876+21G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.876+21G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.876+21G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.813+21G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.813+21G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.813+21G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.813+21G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.813+21G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.813+21G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.813+21G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.813+21G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.813+21G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.813+21G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.813+21G>A||||||,T|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron||n.-1G>A|||||3225|,T|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron||n.-1G>A|||||3182|,T|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron||n.-1G>A|||||3085|,T|downstream_gene_variant|MODIFIER|RP3-508I15.21|ENSG00000272669|transcript|ENST00000609212|antisense||n.*491C>T|||||2548|,T|downstream_gene_variant|MODIFIER|RP3-508I15.22|ENSG00000273076|transcript|ENST00000607991|antisense||n.*416C>T|||||1753|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding||c.*1012G>A|||||24|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000456894|protein_coding||c.*1004G>A|||||4102|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000480307|retained_intron||n.*560G>A|||||4103|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000420859|protein_coding||c.*538G>A|||||4562|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|8/17|c.876+21G>A||||||,T|intron_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense|1/1|n.166-3044C>T||||||,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|9/18|c.813+21G>A||||||,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|8/17|c.813+21G>A||||||,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|9/18|c.813+21G>A||||||,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|8/17|c.780+21G>A||||||,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding|4/4|c.381+21G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 39141702 . G A . . ANN=A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|8/18|c.863C>T|p.Ser288Leu|1137/4022|863/2217|288/738||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|9/19|c.800C>T|p.Ser267Leu|1159/4055|800/2154|267/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|8/18|c.800C>T|p.Ser267Leu|1017/3908|800/2154|267/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|9/19|c.800C>T|p.Ser267Leu|1013/2725|800/2154|267/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|8/18|c.767C>T|p.Ser256Leu|818/2486|767/2121|256/706||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding|4/5|c.368C>T|p.Ser123Leu|370/454|368/429|123/142||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding|8/8|c.662C>T|p.Ser221Leu|1002/1012|662/672|221/223||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.863C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.863C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.863C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.863C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.863C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.863C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.863C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.863C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.863C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.863C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.863C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.800C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.800C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.800C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.800C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.800C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.800C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.800C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.800C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.800C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.800C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.800C>T||||||,A|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron||n.-1C>T|||||3259|,A|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron||n.-1C>T|||||3216|,A|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron||n.-1C>T|||||3119|,A|downstream_gene_variant|MODIFIER|RP3-508I15.21|ENSG00000272669|transcript|ENST00000609212|antisense||n.*491G>A|||||2582|,A|downstream_gene_variant|MODIFIER|RP3-508I15.22|ENSG00000273076|transcript|ENST00000607991|antisense||n.*416G>A|||||1787|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000456894|protein_coding||c.*1004C>T|||||4068|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000480307|retained_intron||n.*560C>T|||||4069|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000420859|protein_coding||c.*538C>T|||||4528|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense|1/1|n.166-3010G>A|||||| 22 39141729 . T C . . ANN=C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|8/18|c.836A>G|p.Asp279Gly|1110/4022|836/2217|279/738||,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|9/19|c.773A>G|p.Asp258Gly|1132/4055|773/2154|258/717||,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|8/18|c.773A>G|p.Asp258Gly|990/3908|773/2154|258/717||,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|9/19|c.773A>G|p.Asp258Gly|986/2725|773/2154|258/717||,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|8/18|c.740A>G|p.Asp247Gly|791/2486|740/2121|247/706||,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding|4/5|c.341A>G|p.Asp114Gly|343/454|341/429|114/142||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding|8/8|c.635A>G|p.Asp212Gly|975/1012|635/672|212/223||WARNING_TRANSCRIPT_NO_STOP_CODON,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.836A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.836A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.836A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.836A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.836A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.836A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.836A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.836A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.836A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.836A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.836A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.773A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.773A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.773A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.773A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.773A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.773A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.773A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.773A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.773A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.773A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.773A>G||||||,C|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron||n.-1A>G|||||3286|,C|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron||n.-1A>G|||||3243|,C|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron||n.-1A>G|||||3146|,C|downstream_gene_variant|MODIFIER|RP3-508I15.21|ENSG00000272669|transcript|ENST00000609212|antisense||n.*491T>C|||||2609|,C|downstream_gene_variant|MODIFIER|RP3-508I15.22|ENSG00000273076|transcript|ENST00000607991|antisense||n.*416T>C|||||1814|,C|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000456894|protein_coding||c.*1004A>G|||||4041|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000480307|retained_intron||n.*560A>G|||||4042|,C|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000420859|protein_coding||c.*538A>G|||||4501|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense|1/1|n.166-2983T>C|||||| 22 39141766 . C T . . ANN=T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|8/18|c.799G>A|p.Val267Ile|1073/4022|799/2217|267/738||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|9/19|c.736G>A|p.Val246Ile|1095/4055|736/2154|246/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|8/18|c.736G>A|p.Val246Ile|953/3908|736/2154|246/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|9/19|c.736G>A|p.Val246Ile|949/2725|736/2154|246/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|8/18|c.703G>A|p.Val235Ile|754/2486|703/2121|235/706||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding|4/5|c.304G>A|p.Val102Ile|306/454|304/429|102/142||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding|8/8|c.598G>A|p.Val200Ile|938/1012|598/672|200/223||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.799G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.799G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.799G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.799G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.799G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.799G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.799G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.799G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.799G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.799G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.799G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.736G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.736G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.736G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.736G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.736G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.736G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.736G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.736G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.736G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.736G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.736G>A||||||,T|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron||n.-1G>A|||||3323|,T|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron||n.-1G>A|||||3280|,T|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron||n.-1G>A|||||3183|,T|downstream_gene_variant|MODIFIER|RP3-508I15.21|ENSG00000272669|transcript|ENST00000609212|antisense||n.*491C>T|||||2646|,T|downstream_gene_variant|MODIFIER|RP3-508I15.22|ENSG00000273076|transcript|ENST00000607991|antisense||n.*416C>T|||||1851|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000456894|protein_coding||c.*1004G>A|||||4004|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000480307|retained_intron||n.*560G>A|||||4005|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000420859|protein_coding||c.*538G>A|||||4464|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense|1/1|n.166-2946C>T|||||| 22 39141778 . G A . . ANN=A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|8/18|c.787C>T|p.His263Tyr|1061/4022|787/2217|263/738||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|9/19|c.724C>T|p.His242Tyr|1083/4055|724/2154|242/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|8/18|c.724C>T|p.His242Tyr|941/3908|724/2154|242/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|9/19|c.724C>T|p.His242Tyr|937/2725|724/2154|242/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|8/18|c.691C>T|p.His231Tyr|742/2486|691/2121|231/706||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding|4/5|c.292C>T|p.His98Tyr|294/454|292/429|98/142||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding|8/8|c.586C>T|p.His196Tyr|926/1012|586/672|196/223||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.787C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.787C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.787C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.787C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.787C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.787C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.787C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.787C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.787C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.787C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.787C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.724C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.724C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.724C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.724C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.724C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.724C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.724C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.724C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.724C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.724C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.724C>T||||||,A|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron||n.-1C>T|||||3335|,A|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron||n.-1C>T|||||3292|,A|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron||n.-1C>T|||||3195|,A|downstream_gene_variant|MODIFIER|RP3-508I15.21|ENSG00000272669|transcript|ENST00000609212|antisense||n.*491G>A|||||2658|,A|downstream_gene_variant|MODIFIER|RP3-508I15.22|ENSG00000273076|transcript|ENST00000607991|antisense||n.*416G>A|||||1863|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000456894|protein_coding||c.*1004C>T|||||3992|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000480307|retained_intron||n.*560C>T|||||3993|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000420859|protein_coding||c.*538C>T|||||4452|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense|1/1|n.166-2934G>A|||||| 22 39144747 . G A . . ANN=A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|7/18|c.719C>T|p.Pro240Leu|993/4022|719/2217|240/738||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|8/19|c.656C>T|p.Pro219Leu|1015/4055|656/2154|219/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|7/18|c.656C>T|p.Pro219Leu|873/3908|656/2154|219/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|8/19|c.656C>T|p.Pro219Leu|869/2725|656/2154|219/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|7/18|c.623C>T|p.Pro208Leu|674/2486|623/2121|208/706||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding|3/5|c.224C>T|p.Pro75Leu|226/454|224/429|75/142||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding|7/8|c.518C>T|p.Pro173Leu|858/1012|518/672|173/223||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|SUN2|ENSG00000100242|transmembrane_region:Transmembrane_region|ENST00000405018|protein_coding|8/18|c.719C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|transmembrane_region:Transmembrane_region|ENST00000405018|protein_coding|7/18|c.719C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|transmembrane_region:Transmembrane_region|ENST00000406622|protein_coding|9/19|c.656C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|transmembrane_region:Transmembrane_region|ENST00000406622|protein_coding|8/19|c.656C>T||||||,A|downstream_gene_variant|MODIFIER|RP3-508I15.22|ENSG00000273076|transcript|ENST00000607991|antisense||n.*416G>A|||||4832|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000456894|protein_coding||c.*1004C>T|||||1023|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000480307|retained_intron||n.*560C>T|||||1024|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000420859|protein_coding||c.*538C>T|||||1483|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000452294|protein_coding||c.*621C>T|||||2146|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000494273|retained_intron||n.*746C>T|||||2156|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000433561|protein_coding||c.*444C>T|||||2250|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000417332|protein_coding||c.*545C>T|||||2265|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000439339|protein_coding||c.*546C>T|||||2278|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense|2/2|n.201G>A|||||| 22 39144768 . G A . . ANN=A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|7/18|c.698C>T|p.Thr233Met|972/4022|698/2217|233/738||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|8/19|c.635C>T|p.Thr212Met|994/4055|635/2154|212/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|7/18|c.635C>T|p.Thr212Met|852/3908|635/2154|212/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|8/19|c.635C>T|p.Thr212Met|848/2725|635/2154|212/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|7/18|c.602C>T|p.Thr201Met|653/2486|602/2121|201/706||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding|3/5|c.203C>T|p.Thr68Met|205/454|203/429|68/142||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding|7/8|c.497C>T|p.Thr166Met|837/1012|497/672|166/223||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|5/19|c.635C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|3/19|c.635C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|7/19|c.635C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|4/19|c.635C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|8/19|c.635C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|6/19|c.635C>T||||||,A|downstream_gene_variant|MODIFIER|RP3-508I15.22|ENSG00000273076|transcript|ENST00000607991|antisense||n.*416G>A|||||4853|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000456894|protein_coding||c.*1004C>T|||||1002|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000480307|retained_intron||n.*560C>T|||||1003|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000420859|protein_coding||c.*538C>T|||||1462|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000452294|protein_coding||c.*621C>T|||||2125|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000494273|retained_intron||n.*746C>T|||||2135|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000433561|protein_coding||c.*444C>T|||||2229|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000417332|protein_coding||c.*545C>T|||||2244|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000439339|protein_coding||c.*546C>T|||||2257|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense|2/2|n.222G>A|||||| 22 39144787 . G T . . ANN=T|missense_variant&splice_region_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|7/18|c.679C>A|p.Arg227Ser|953/4022|679/2217|227/738||,T|missense_variant&splice_region_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|8/19|c.616C>A|p.Arg206Ser|975/4055|616/2154|206/717||,T|missense_variant&splice_region_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|7/18|c.616C>A|p.Arg206Ser|833/3908|616/2154|206/717||,T|missense_variant&splice_region_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|8/19|c.616C>A|p.Arg206Ser|829/2725|616/2154|206/717||,T|missense_variant&splice_region_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|7/18|c.583C>A|p.Arg195Ser|634/2486|583/2121|195/706||,T|missense_variant&splice_region_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding|3/5|c.184C>A|p.Arg62Ser|186/454|184/429|62/142||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant&splice_region_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding|7/8|c.478C>A|p.Arg160Ser|818/1012|478/672|160/223||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|5/19|c.616C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|3/19|c.616C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|7/19|c.616C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|4/19|c.616C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|8/19|c.616C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|6/19|c.616C>A||||||,T|downstream_gene_variant|MODIFIER|RP3-508I15.22|ENSG00000273076|transcript|ENST00000607991|antisense||n.*416G>T|||||4872|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000456894|protein_coding||c.*1004C>A|||||983|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000480307|retained_intron||n.*560C>A|||||984|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000420859|protein_coding||c.*538C>A|||||1443|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000452294|protein_coding||c.*621C>A|||||2106|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000494273|retained_intron||n.*746C>A|||||2116|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000433561|protein_coding||c.*444C>A|||||2210|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000417332|protein_coding||c.*545C>A|||||2225|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000439339|protein_coding||c.*546C>A|||||2238|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense|2/2|n.241G>T|||||| 22 39144807 . C T . . ANN=T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|5/19|c.615-19G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|3/19|c.615-19G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|7/19|c.615-19G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|4/19|c.615-19G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|8/19|c.615-19G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|6/19|c.615-19G>A||||||,T|downstream_gene_variant|MODIFIER|RP3-508I15.22|ENSG00000273076|transcript|ENST00000607991|antisense||n.*416C>T|||||4892|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000456894|protein_coding||c.*1004G>A|||||963|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000480307|retained_intron||n.*560G>A|||||964|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000420859|protein_coding||c.*538G>A|||||1423|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000452294|protein_coding||c.*621G>A|||||2086|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000494273|retained_intron||n.*746G>A|||||2096|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000433561|protein_coding||c.*444G>A|||||2190|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000417332|protein_coding||c.*545G>A|||||2205|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000439339|protein_coding||c.*546G>A|||||2218|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|6/17|c.678-19G>A||||||,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|7/18|c.615-19G>A||||||,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|6/17|c.615-19G>A||||||,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|7/18|c.615-19G>A||||||,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|6/17|c.582-19G>A||||||,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding|2/4|c.183-19G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding|6/7|c.477-19G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense|2/2|n.261C>T|||||| 22 39145721 . C T . . ANN=T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|5/19|c.614+50G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|3/19|c.614+50G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|7/19|c.614+50G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|4/19|c.614+50G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|8/19|c.614+50G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|6/19|c.614+50G>A||||||,T|downstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.*500C>T|||||675|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000456894|protein_coding||c.*1004G>A|||||49|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000480307|retained_intron||n.*560G>A|||||50|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000420859|protein_coding||c.*538G>A|||||509|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000452294|protein_coding||c.*621G>A|||||1172|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000494273|retained_intron||n.*746G>A|||||1182|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000433561|protein_coding||c.*444G>A|||||1276|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000417332|protein_coding||c.*545G>A|||||1291|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000439339|protein_coding||c.*546G>A|||||1304|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|6/17|c.677+50G>A||||||,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|7/18|c.614+50G>A||||||,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|6/17|c.614+50G>A||||||,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|7/18|c.614+50G>A||||||,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|6/17|c.581+50G>A||||||,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding|2/4|c.182+50G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding|6/7|c.476+50G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 39145749 . G A . . ANN=A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|5/19|c.614+22C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|3/19|c.614+22C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|7/19|c.614+22C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|4/19|c.614+22C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|8/19|c.614+22C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|6/19|c.614+22C>T||||||,A|downstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.*500G>A|||||703|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000456894|protein_coding||c.*1004C>T|||||21|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000480307|retained_intron||n.*560C>T|||||22|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000420859|protein_coding||c.*538C>T|||||481|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000452294|protein_coding||c.*621C>T|||||1144|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000494273|retained_intron||n.*746C>T|||||1154|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000433561|protein_coding||c.*444C>T|||||1248|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000417332|protein_coding||c.*545C>T|||||1263|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000439339|protein_coding||c.*546C>T|||||1276|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|6/17|c.677+22C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|7/18|c.614+22C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|6/17|c.614+22C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|7/18|c.614+22C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|6/17|c.581+22C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding|2/4|c.182+22C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding|6/7|c.476+22C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 39145750 . C T . . ANN=T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|5/19|c.614+21G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|3/19|c.614+21G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|7/19|c.614+21G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|4/19|c.614+21G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|8/19|c.614+21G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|6/19|c.614+21G>A||||||,T|downstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.*500C>T|||||704|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000456894|protein_coding||c.*1004G>A|||||20|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000480307|retained_intron||n.*560G>A|||||21|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000420859|protein_coding||c.*538G>A|||||480|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000452294|protein_coding||c.*621G>A|||||1143|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000494273|retained_intron||n.*746G>A|||||1153|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000433561|protein_coding||c.*444G>A|||||1247|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000417332|protein_coding||c.*545G>A|||||1262|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000439339|protein_coding||c.*546G>A|||||1275|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|6/17|c.677+21G>A||||||,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|7/18|c.614+21G>A||||||,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|6/17|c.614+21G>A||||||,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|7/18|c.614+21G>A||||||,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|6/17|c.581+21G>A||||||,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding|2/4|c.182+21G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding|6/7|c.476+21G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 39145765 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|6/17|c.677+6C>T||||||,A|splice_region_variant&intron_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|7/18|c.614+6C>T||||||,A|splice_region_variant&intron_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|6/17|c.614+6C>T||||||,A|splice_region_variant&intron_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|7/18|c.614+6C>T||||||,A|splice_region_variant&intron_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|6/17|c.581+6C>T||||||,A|splice_region_variant&intron_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding|2/4|c.182+6C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|splice_region_variant&intron_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding|6/7|c.476+6C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|5/19|c.614+6C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|3/19|c.614+6C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|7/19|c.614+6C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|4/19|c.614+6C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|8/19|c.614+6C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|6/19|c.614+6C>T||||||,A|downstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.*500G>A|||||719|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000456894|protein_coding||c.*1004C>T|||||5|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000480307|retained_intron||n.*560C>T|||||6|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000420859|protein_coding||c.*538C>T|||||465|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000452294|protein_coding||c.*621C>T|||||1128|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000494273|retained_intron||n.*746C>T|||||1138|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000433561|protein_coding||c.*444C>T|||||1232|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000417332|protein_coding||c.*545C>T|||||1247|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000439339|protein_coding||c.*546C>T|||||1260|WARNING_TRANSCRIPT_INCOMPLETE 22 39145816 . C T . . ANN=T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|6/18|c.632G>A|p.Arg211His|906/4022|632/2217|211/738||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|7/19|c.569G>A|p.Arg190His|928/4055|569/2154|190/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|6/18|c.569G>A|p.Arg190His|786/3908|569/2154|190/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|7/19|c.569G>A|p.Arg190His|782/2725|569/2154|190/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|6/18|c.536G>A|p.Arg179His|587/2486|536/2121|179/706||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding|2/5|c.137G>A|p.Arg46His|139/454|137/429|46/142||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding|6/8|c.431G>A|p.Arg144His|771/1012|431/672|144/223||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000456894|protein_coding|6/6|c.569G>A|p.Arg190His|958/1004|569/615|190/204||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|5/19|c.569G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|3/19|c.569G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|7/19|c.569G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|4/19|c.569G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|8/19|c.569G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|6/19|c.569G>A||||||,T|downstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.*500C>T|||||770|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000420859|protein_coding||c.*538G>A|||||414|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000452294|protein_coding||c.*621G>A|||||1077|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000494273|retained_intron||n.*746G>A|||||1087|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000433561|protein_coding||c.*444G>A|||||1181|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000417332|protein_coding||c.*545G>A|||||1196|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000439339|protein_coding||c.*546G>A|||||1209|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000480307|retained_intron|4/4|n.515G>A|||||| 22 39145900 . G A . . ANN=A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|5/19|c.521-36C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|3/19|c.521-36C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|7/19|c.521-36C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|4/19|c.521-36C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|8/19|c.521-36C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|6/19|c.521-36C>T||||||,A|downstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.*500G>A|||||854|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000420859|protein_coding||c.*538C>T|||||330|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000452294|protein_coding||c.*621C>T|||||993|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000494273|retained_intron||n.*746C>T|||||1003|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000433561|protein_coding||c.*444C>T|||||1097|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000417332|protein_coding||c.*545C>T|||||1112|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000439339|protein_coding||c.*546C>T|||||1125|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|5/17|c.584-36C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|6/18|c.521-36C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|5/17|c.521-36C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|6/18|c.521-36C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|5/17|c.488-36C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding|1/4|c.89-36C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding|5/7|c.383-36C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000456894|protein_coding|5/5|c.521-36C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000480307|retained_intron|3/3|n.467-36C>T|||||| 22 39146265 . G A . . ANN=A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|5/18|c.548C>T|p.Ala183Val|822/4022|548/2217|183/738||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|6/19|c.485C>T|p.Ala162Val|844/4055|485/2154|162/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|5/18|c.485C>T|p.Ala162Val|702/3908|485/2154|162/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|6/19|c.485C>T|p.Ala162Val|698/2725|485/2154|162/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|5/18|c.452C>T|p.Ala151Val|503/2486|452/2121|151/706||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding|1/5|c.53C>T|p.Ala18Val|55/454|53/429|18/142||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding|5/8|c.347C>T|p.Ala116Val|687/1012|347/672|116/223||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000456894|protein_coding|5/6|c.485C>T|p.Ala162Val|874/1004|485/615|162/204||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000420859|protein_coding|5/5|c.347C>T|p.Ala116Val|503/538|347/382|116/126||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|5/19|c.485C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|3/19|c.485C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|7/19|c.485C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|4/19|c.485C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|8/19|c.485C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|6/19|c.485C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|5/19|c.485C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|3/19|c.485C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|4/19|c.485C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|6/19|c.485C>T||||||,A|downstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.*500G>A|||||1219|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000452294|protein_coding||c.*621C>T|||||628|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000494273|retained_intron||n.*746C>T|||||638|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000433561|protein_coding||c.*444C>T|||||732|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000417332|protein_coding||c.*545C>T|||||747|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000439339|protein_coding||c.*546C>T|||||760|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000480307|retained_intron|3/4|n.431C>T|||||| 22 39146275 . C T . . ANN=T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|5/18|c.538G>A|p.Val180Ile|812/4022|538/2217|180/738||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|6/19|c.475G>A|p.Val159Ile|834/4055|475/2154|159/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|5/18|c.475G>A|p.Val159Ile|692/3908|475/2154|159/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|6/19|c.475G>A|p.Val159Ile|688/2725|475/2154|159/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|5/18|c.442G>A|p.Val148Ile|493/2486|442/2121|148/706||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding|1/5|c.43G>A|p.Val15Ile|45/454|43/429|15/142||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding|5/8|c.337G>A|p.Val113Ile|677/1012|337/672|113/223||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000456894|protein_coding|5/6|c.475G>A|p.Val159Ile|864/1004|475/615|159/204||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000420859|protein_coding|5/5|c.337G>A|p.Val113Ile|493/538|337/382|113/126||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|5/19|c.475G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|3/19|c.475G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|7/19|c.475G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|4/19|c.475G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|8/19|c.475G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|6/19|c.475G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|5/19|c.475G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|3/19|c.475G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|4/19|c.475G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|6/19|c.475G>A||||||,T|downstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.*500C>T|||||1229|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000452294|protein_coding||c.*621G>A|||||618|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000494273|retained_intron||n.*746G>A|||||628|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000433561|protein_coding||c.*444G>A|||||722|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000417332|protein_coding||c.*545G>A|||||737|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000439339|protein_coding||c.*546G>A|||||750|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000480307|retained_intron|3/4|n.421G>A|||||| 22 39146279 . G A . . ANN=A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|5/18|c.534C>T|p.Ser178Ser|808/4022|534/2217|178/738||,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|6/19|c.471C>T|p.Ser157Ser|830/4055|471/2154|157/717||,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|5/18|c.471C>T|p.Ser157Ser|688/3908|471/2154|157/717||,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|6/19|c.471C>T|p.Ser157Ser|684/2725|471/2154|157/717||,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|5/18|c.438C>T|p.Ser146Ser|489/2486|438/2121|146/706||,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding|1/5|c.39C>T|p.Ser13Ser|41/454|39/429|13/142||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding|5/8|c.333C>T|p.Ser111Ser|673/1012|333/672|111/223||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000456894|protein_coding|5/6|c.471C>T|p.Ser157Ser|860/1004|471/615|157/204||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000420859|protein_coding|5/5|c.333C>T|p.Ser111Ser|489/538|333/382|111/126||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|5/19|c.471C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|3/19|c.471C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|7/19|c.471C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|4/19|c.471C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|8/19|c.471C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|6/19|c.471C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|5/19|c.471C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|3/19|c.471C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|4/19|c.471C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|6/19|c.471C>T||||||,A|downstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.*500G>A|||||1233|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000452294|protein_coding||c.*621C>T|||||614|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000494273|retained_intron||n.*746C>T|||||624|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000433561|protein_coding||c.*444C>T|||||718|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000417332|protein_coding||c.*545C>T|||||733|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000439339|protein_coding||c.*546C>T|||||746|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000480307|retained_intron|3/4|n.417C>T|||||| 22 39146283 . C T . . ANN=T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|5/18|c.530G>A|p.Arg177Gln|804/4022|530/2217|177/738||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|6/19|c.467G>A|p.Arg156Gln|826/4055|467/2154|156/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|5/18|c.467G>A|p.Arg156Gln|684/3908|467/2154|156/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|6/19|c.467G>A|p.Arg156Gln|680/2725|467/2154|156/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|5/18|c.434G>A|p.Arg145Gln|485/2486|434/2121|145/706||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding|1/5|c.35G>A|p.Arg12Gln|37/454|35/429|12/142||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding|5/8|c.329G>A|p.Arg110Gln|669/1012|329/672|110/223||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000456894|protein_coding|5/6|c.467G>A|p.Arg156Gln|856/1004|467/615|156/204||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000420859|protein_coding|5/5|c.329G>A|p.Arg110Gln|485/538|329/382|110/126||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|5/19|c.467G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|3/19|c.467G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|7/19|c.467G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|4/19|c.467G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|8/19|c.467G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|6/19|c.467G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|5/19|c.467G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|3/19|c.467G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|4/19|c.467G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|6/19|c.467G>A||||||,T|downstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.*500C>T|||||1237|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000452294|protein_coding||c.*621G>A|||||610|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000494273|retained_intron||n.*746G>A|||||620|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000433561|protein_coding||c.*444G>A|||||714|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000417332|protein_coding||c.*545G>A|||||729|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000439339|protein_coding||c.*546G>A|||||742|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000480307|retained_intron|3/4|n.413G>A|||||| 22 39146314 . C T . . ANN=T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|5/18|c.499G>A|p.Val167Met|773/4022|499/2217|167/738||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|6/19|c.436G>A|p.Val146Met|795/4055|436/2154|146/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|5/18|c.436G>A|p.Val146Met|653/3908|436/2154|146/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|6/19|c.436G>A|p.Val146Met|649/2725|436/2154|146/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|5/18|c.403G>A|p.Val135Met|454/2486|403/2121|135/706||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding|1/5|c.4G>A|p.Val2Met|6/454|4/429|2/142||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding|5/8|c.298G>A|p.Val100Met|638/1012|298/672|100/223||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000456894|protein_coding|5/6|c.436G>A|p.Val146Met|825/1004|436/615|146/204||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000420859|protein_coding|5/5|c.298G>A|p.Val100Met|454/538|298/382|100/126||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|5/19|c.436G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|3/19|c.436G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|7/19|c.436G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|4/19|c.436G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|8/19|c.436G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|6/19|c.436G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|5/19|c.436G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|3/19|c.436G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|4/19|c.436G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|6/19|c.436G>A||||||,T|downstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.*500C>T|||||1268|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000452294|protein_coding||c.*621G>A|||||579|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000494273|retained_intron||n.*746G>A|||||589|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000433561|protein_coding||c.*444G>A|||||683|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000417332|protein_coding||c.*545G>A|||||698|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000439339|protein_coding||c.*546G>A|||||711|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000480307|retained_intron|3/4|n.382G>A|||||| 22 39146330 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|5/18|c.425-5C>T||||||,A|splice_region_variant&intron_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|4/17|c.425-5C>T||||||,A|splice_region_variant&intron_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|5/18|c.425-5C>T||||||,A|splice_region_variant&intron_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|4/17|c.392-5C>T||||||,A|splice_region_variant&intron_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding|4/7|c.287-5C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|splice_region_variant&intron_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000456894|protein_coding|4/5|c.425-5C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|splice_region_variant&intron_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000480307|retained_intron|2/3|n.371-5C>T||||||,A|splice_region_variant&intron_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000420859|protein_coding|4/4|c.287-5C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|5/18|c.483C>T|p.Pro161Pro|757/4022|483/2217|161/738||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|5/19|c.425-5C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|3/19|c.425-5C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|7/19|c.425-5C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|4/19|c.425-5C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|8/19|c.425-5C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|6/19|c.425-5C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|5/19|c.425-5C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|3/19|c.425-5C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|4/19|c.425-5C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|6/19|c.425-5C>T||||||,A|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding||c.-3C>T|||||11|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.*500G>A|||||1284|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000452294|protein_coding||c.*621C>T|||||563|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000494273|retained_intron||n.*746C>T|||||573|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000433561|protein_coding||c.*444C>T|||||667|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000417332|protein_coding||c.*545C>T|||||682|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000439339|protein_coding||c.*546C>T|||||695|WARNING_TRANSCRIPT_INCOMPLETE 22 39146886 . G A . . ANN=A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|5/19|c.424+17C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|3/19|c.424+17C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|7/19|c.424+17C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|4/19|c.424+17C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|8/19|c.424+17C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|6/19|c.424+17C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|5/19|c.424+17C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|3/19|c.424+17C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|4/19|c.424+17C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|6/19|c.424+17C>T||||||,A|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding||c.-3C>T|||||567|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.*500G>A|||||1840|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000452294|protein_coding||c.*621C>T|||||7|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000494273|retained_intron||n.*746C>T|||||17|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000433561|protein_coding||c.*444C>T|||||111|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000417332|protein_coding||c.*545C>T|||||126|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000439339|protein_coding||c.*546C>T|||||139|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|4/17|c.424+17C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|5/18|c.424+17C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|4/17|c.424+17C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|5/18|c.424+17C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|4/17|c.391+329C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding|4/7|c.286+329C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000456894|protein_coding|4/5|c.424+17C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000480307|retained_intron|2/3|n.370+17C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000420859|protein_coding|4/4|c.286+329C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 39146907 . G A . . ANN=A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|4/18|c.420C>T|p.Tyr140Tyr|694/4022|420/2217|140/738||,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|5/19|c.420C>T|p.Tyr140Tyr|779/4055|420/2154|140/717||,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|4/18|c.420C>T|p.Tyr140Tyr|637/3908|420/2154|140/717||,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|5/19|c.420C>T|p.Tyr140Tyr|633/2725|420/2154|140/717||,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000456894|protein_coding|4/6|c.420C>T|p.Tyr140Tyr|809/1004|420/615|140/204||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000452294|protein_coding|5/5|c.420C>T|p.Tyr140Tyr|607/621|420/434|140/143||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|5/19|c.420C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|3/19|c.420C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|7/19|c.420C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|4/19|c.420C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|8/19|c.420C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|6/19|c.420C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|5/19|c.420C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|3/19|c.420C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|4/19|c.420C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|6/19|c.420C>T||||||,A|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding||c.-3C>T|||||588|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.*500G>A|||||1861|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000433561|protein_coding||c.*444C>T|||||90|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000417332|protein_coding||c.*545C>T|||||105|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000439339|protein_coding||c.*546C>T|||||118|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|4/17|c.391+308C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding|4/7|c.286+308C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000420859|protein_coding|4/4|c.286+308C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000480307|retained_intron|2/4|n.366C>T||||||,A|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000494273|retained_intron|4/4|n.742C>T|||||| 22 39146965 . C T . . ANN=T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|4/18|c.362G>A|p.Arg121His|636/4022|362/2217|121/738||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|5/19|c.362G>A|p.Arg121His|721/4055|362/2154|121/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|4/18|c.362G>A|p.Arg121His|579/3908|362/2154|121/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|5/19|c.362G>A|p.Arg121His|575/2725|362/2154|121/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000456894|protein_coding|4/6|c.362G>A|p.Arg121His|751/1004|362/615|121/204||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000452294|protein_coding|5/5|c.362G>A|p.Arg121His|549/621|362/434|121/143||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|4/18|c.362G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|2/18|c.362G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|3/18|c.362G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|5/19|c.362G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|3/19|c.362G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|7/19|c.362G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|4/19|c.362G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|8/19|c.362G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|6/19|c.362G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|5/19|c.362G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|3/19|c.362G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|4/19|c.362G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|6/19|c.362G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|5/19|c.362G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|3/19|c.362G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|4/19|c.362G>A||||||,T|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding||c.-3G>A|||||646|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.*500C>T|||||1919|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000433561|protein_coding||c.*444G>A|||||32|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000417332|protein_coding||c.*545G>A|||||47|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000439339|protein_coding||c.*546G>A|||||60|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|4/17|c.391+250G>A||||||,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding|4/7|c.286+250G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000420859|protein_coding|4/4|c.286+250G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000480307|retained_intron|2/4|n.308G>A||||||,T|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000494273|retained_intron|4/4|n.684G>A|||||| 22 39147166 . G A . . ANN=A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|4/18|c.286+49C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|2/18|c.286+49C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|3/18|c.286+49C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|5/19|c.286+49C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|3/19|c.286+49C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|7/19|c.286+49C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|4/19|c.286+49C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|8/19|c.286+49C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|6/19|c.286+49C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|5/19|c.286+49C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|3/19|c.286+49C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|4/19|c.286+49C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|6/19|c.286+49C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|5/19|c.286+49C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|3/19|c.286+49C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|4/19|c.286+49C>T||||||,A|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding||c.-3C>T|||||847|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.*500G>A|||||2120|,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|3/17|c.286+49C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|4/18|c.286+49C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|3/17|c.286+49C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|4/18|c.286+49C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|4/17|c.391+49C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding|4/7|c.286+49C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000456894|protein_coding|3/5|c.286+49C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000480307|retained_intron|1/3|n.232+49C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000420859|protein_coding|4/4|c.286+49C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000452294|protein_coding|4/4|c.286+49C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000433561|protein_coding|3/3|c.286+49C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000417332|protein_coding|3/3|c.286+49C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000439339|protein_coding|4/4|c.286+49C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000494273|retained_intron|4/4|n.483C>T|||||| 22 39147192 . G A . . ANN=A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|4/18|c.286+23C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|2/18|c.286+23C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|3/18|c.286+23C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|5/19|c.286+23C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|3/19|c.286+23C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|7/19|c.286+23C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|4/19|c.286+23C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|8/19|c.286+23C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|6/19|c.286+23C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|5/19|c.286+23C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|3/19|c.286+23C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|4/19|c.286+23C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|6/19|c.286+23C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|5/19|c.286+23C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|3/19|c.286+23C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|4/19|c.286+23C>T||||||,A|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding||c.-3C>T|||||873|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.*500G>A|||||2146|,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|3/17|c.286+23C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|4/18|c.286+23C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|3/17|c.286+23C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|4/18|c.286+23C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|4/17|c.391+23C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding|4/7|c.286+23C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000456894|protein_coding|3/5|c.286+23C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000480307|retained_intron|1/3|n.232+23C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000420859|protein_coding|4/4|c.286+23C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000452294|protein_coding|4/4|c.286+23C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000433561|protein_coding|3/3|c.286+23C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000417332|protein_coding|3/3|c.286+23C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000439339|protein_coding|4/4|c.286+23C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000494273|retained_intron|4/4|n.457C>T|||||| 22 39147197 . G A . . ANN=A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|4/18|c.286+18C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|2/18|c.286+18C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|3/18|c.286+18C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|5/19|c.286+18C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|3/19|c.286+18C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|7/19|c.286+18C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|4/19|c.286+18C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|8/19|c.286+18C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|6/19|c.286+18C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|5/19|c.286+18C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|3/19|c.286+18C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|4/19|c.286+18C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|6/19|c.286+18C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|5/19|c.286+18C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|3/19|c.286+18C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|4/19|c.286+18C>T||||||,A|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding||c.-3C>T|||||878|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.*500G>A|||||2151|,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|3/17|c.286+18C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|4/18|c.286+18C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|3/17|c.286+18C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|4/18|c.286+18C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|4/17|c.391+18C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding|4/7|c.286+18C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000456894|protein_coding|3/5|c.286+18C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000480307|retained_intron|1/3|n.232+18C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000420859|protein_coding|4/4|c.286+18C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000452294|protein_coding|4/4|c.286+18C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000433561|protein_coding|3/3|c.286+18C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000417332|protein_coding|3/3|c.286+18C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000439339|protein_coding|4/4|c.286+18C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000494273|retained_intron|4/4|n.452C>T|||||| 22 39147225 . G A . . ANN=A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|3/18|c.276C>T|p.Asp92Asp|550/4022|276/2217|92/738||,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|4/19|c.276C>T|p.Asp92Asp|635/4055|276/2154|92/717||,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|3/18|c.276C>T|p.Asp92Asp|493/3908|276/2154|92/717||,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|4/19|c.276C>T|p.Asp92Asp|489/2725|276/2154|92/717||,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|4/18|c.381C>T|p.Asp127Asp|432/2486|381/2121|127/706||,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding|4/8|c.276C>T|p.Asp92Asp|616/1012|276/672|92/223||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000456894|protein_coding|3/6|c.276C>T|p.Asp92Asp|665/1004|276/615|92/204||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000420859|protein_coding|4/5|c.276C>T|p.Asp92Asp|432/538|276/382|92/126||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000452294|protein_coding|4/5|c.276C>T|p.Asp92Asp|463/621|276/434|92/143||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000433561|protein_coding|3/4|c.276C>T|p.Asp92Asp|390/444|276/330|92/109||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000417332|protein_coding|3/4|c.276C>T|p.Asp92Asp|447/545|276/374|92/123||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000439339|protein_coding|4/5|c.276C>T|p.Asp92Asp|520/546|276/302|92/99||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|4/18|c.276C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|2/18|c.276C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|3/18|c.276C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|5/19|c.276C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|3/19|c.276C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|7/19|c.276C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|4/19|c.276C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|8/19|c.276C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|6/19|c.276C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|5/19|c.276C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|3/19|c.276C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|4/19|c.276C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|6/19|c.276C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|5/19|c.276C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|3/19|c.276C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|4/19|c.276C>T||||||,A|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding||c.-3C>T|||||906|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.*500G>A|||||2179|,A|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000480307|retained_intron|1/4|n.222C>T||||||,A|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000494273|retained_intron|4/4|n.424C>T|||||| 22 39147235 . A C . . ANN=C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|3/18|c.266T>G|p.Leu89Arg|540/4022|266/2217|89/738||,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|4/19|c.266T>G|p.Leu89Arg|625/4055|266/2154|89/717||,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|3/18|c.266T>G|p.Leu89Arg|483/3908|266/2154|89/717||,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|4/19|c.266T>G|p.Leu89Arg|479/2725|266/2154|89/717||,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|4/18|c.371T>G|p.Leu124Arg|422/2486|371/2121|124/706||,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding|4/8|c.266T>G|p.Leu89Arg|606/1012|266/672|89/223||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000456894|protein_coding|3/6|c.266T>G|p.Leu89Arg|655/1004|266/615|89/204||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000420859|protein_coding|4/5|c.266T>G|p.Leu89Arg|422/538|266/382|89/126||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000452294|protein_coding|4/5|c.266T>G|p.Leu89Arg|453/621|266/434|89/143||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000433561|protein_coding|3/4|c.266T>G|p.Leu89Arg|380/444|266/330|89/109||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000417332|protein_coding|3/4|c.266T>G|p.Leu89Arg|437/545|266/374|89/123||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000439339|protein_coding|4/5|c.266T>G|p.Leu89Arg|510/546|266/302|89/99||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|4/18|c.266T>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|2/18|c.266T>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|3/18|c.266T>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|5/19|c.266T>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|3/19|c.266T>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|7/19|c.266T>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|4/19|c.266T>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|8/19|c.266T>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|6/19|c.266T>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|5/19|c.266T>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|3/19|c.266T>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|4/19|c.266T>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|6/19|c.266T>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|5/19|c.266T>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|3/19|c.266T>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|4/19|c.266T>G||||||,C|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding||c.-3T>G|||||916|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.*500A>C|||||2189|,C|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000480307|retained_intron|1/4|n.212T>G||||||,C|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000494273|retained_intron|4/4|n.414T>G|||||| 22 39147346 . C T . . ANN=T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|3/18|c.155G>A|p.Arg52His|429/4022|155/2217|52/738||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|4/19|c.155G>A|p.Arg52His|514/4055|155/2154|52/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|3/18|c.155G>A|p.Arg52His|372/3908|155/2154|52/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|4/19|c.155G>A|p.Arg52His|368/2725|155/2154|52/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|4/18|c.260G>A|p.Arg87His|311/2486|260/2121|87/706||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding|4/8|c.155G>A|p.Arg52His|495/1012|155/672|52/223||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000456894|protein_coding|3/6|c.155G>A|p.Arg52His|544/1004|155/615|52/204||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000420859|protein_coding|4/5|c.155G>A|p.Arg52His|311/538|155/382|52/126||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000452294|protein_coding|4/5|c.155G>A|p.Arg52His|342/621|155/434|52/143||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000433561|protein_coding|3/4|c.155G>A|p.Arg52His|269/444|155/330|52/109||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000417332|protein_coding|3/4|c.155G>A|p.Arg52His|326/545|155/374|52/123||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000439339|protein_coding|4/5|c.155G>A|p.Arg52His|399/546|155/302|52/99||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|4/18|c.155G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|2/18|c.155G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|3/18|c.155G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|5/19|c.155G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|3/19|c.155G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|7/19|c.155G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|4/19|c.155G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|8/19|c.155G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|6/19|c.155G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|5/19|c.155G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|3/19|c.155G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|4/19|c.155G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|6/19|c.155G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|5/19|c.155G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|3/19|c.155G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|4/19|c.155G>A||||||,T|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding||c.-3G>A|||||1027|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.*500C>T|||||2300|,T|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000480307|retained_intron|1/4|n.101G>A||||||,T|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000494273|retained_intron|4/4|n.303G>A|||||| 22 39148475 . G A . . ANN=A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|4/18|c.122+37C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|2/18|c.122+37C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|3/18|c.122+37C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|5/19|c.122+37C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|3/19|c.122+37C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|7/19|c.122+37C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|4/19|c.122+37C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|8/19|c.122+37C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|6/19|c.122+37C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|5/19|c.122+37C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|3/19|c.122+37C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|4/19|c.122+37C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|6/19|c.122+37C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|5/19|c.122+37C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|3/19|c.122+37C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|4/19|c.122+37C>T||||||,A|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding||c.-3C>T|||||2156|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000480307|retained_intron||n.-1C>T|||||1029|,A|downstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.*500G>A|||||3429|,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|2/17|c.122+37C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|3/18|c.122+37C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|2/17|c.122+37C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|3/18|c.122+37C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|3/17|c.227+37C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding|3/7|c.122+37C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000456894|protein_coding|2/5|c.122+37C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000420859|protein_coding|3/4|c.122+37C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000452294|protein_coding|3/4|c.122+37C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000494273|retained_intron|3/3|n.270+37C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000433561|protein_coding|2/3|c.122+37C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000417332|protein_coding|2/3|c.122+37C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000439339|protein_coding|3/4|c.122+37C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 39148483 . G A . . ANN=A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|4/18|c.122+29C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|2/18|c.122+29C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|3/18|c.122+29C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|5/19|c.122+29C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|3/19|c.122+29C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|7/19|c.122+29C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|4/19|c.122+29C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|8/19|c.122+29C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|6/19|c.122+29C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|5/19|c.122+29C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|3/19|c.122+29C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|4/19|c.122+29C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|6/19|c.122+29C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|5/19|c.122+29C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|3/19|c.122+29C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|4/19|c.122+29C>T||||||,A|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding||c.-3C>T|||||2164|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000480307|retained_intron||n.-1C>T|||||1037|,A|downstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.*500G>A|||||3437|,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|2/17|c.122+29C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|3/18|c.122+29C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|2/17|c.122+29C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|3/18|c.122+29C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|3/17|c.227+29C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding|3/7|c.122+29C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000456894|protein_coding|2/5|c.122+29C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000420859|protein_coding|3/4|c.122+29C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000452294|protein_coding|3/4|c.122+29C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000494273|retained_intron|3/3|n.270+29C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000433561|protein_coding|2/3|c.122+29C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000417332|protein_coding|2/3|c.122+29C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000439339|protein_coding|3/4|c.122+29C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 39148537 . T C . . ANN=C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|2/18|c.97A>G|p.Thr33Ala|371/4022|97/2217|33/738||,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|3/19|c.97A>G|p.Thr33Ala|456/4055|97/2154|33/717||,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|2/18|c.97A>G|p.Thr33Ala|314/3908|97/2154|33/717||,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|3/19|c.97A>G|p.Thr33Ala|310/2725|97/2154|33/717||,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|3/18|c.202A>G|p.Thr68Ala|253/2486|202/2121|68/706||,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding|3/8|c.97A>G|p.Thr33Ala|437/1012|97/672|33/223||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000456894|protein_coding|2/6|c.97A>G|p.Thr33Ala|486/1004|97/615|33/204||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000420859|protein_coding|3/5|c.97A>G|p.Thr33Ala|253/538|97/382|33/126||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000452294|protein_coding|3/5|c.97A>G|p.Thr33Ala|284/621|97/434|33/143||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000433561|protein_coding|2/4|c.97A>G|p.Thr33Ala|211/444|97/330|33/109||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000417332|protein_coding|2/4|c.97A>G|p.Thr33Ala|268/545|97/374|33/123||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000439339|protein_coding|3/5|c.97A>G|p.Thr33Ala|341/546|97/302|33/99||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|4/18|c.97A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|2/18|c.97A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|3/18|c.97A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|5/19|c.97A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|3/19|c.97A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|7/19|c.97A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|4/19|c.97A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|8/19|c.97A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|6/19|c.97A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|5/19|c.97A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|3/19|c.97A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|4/19|c.97A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|6/19|c.97A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|5/19|c.97A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|3/19|c.97A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|4/19|c.97A>G||||||,C|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding||c.-3A>G|||||2218|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000480307|retained_intron||n.-1A>G|||||1091|,C|downstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.*500T>C|||||3491|,C|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000494273|retained_intron|3/4|n.245A>G|||||| 22 39148588 . C T . . ANN=T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|2/18|c.46G>A|p.Asp16Asn|320/4022|46/2217|16/738||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|3/19|c.46G>A|p.Asp16Asn|405/4055|46/2154|16/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|2/18|c.46G>A|p.Asp16Asn|263/3908|46/2154|16/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|3/19|c.46G>A|p.Asp16Asn|259/2725|46/2154|16/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|3/18|c.151G>A|p.Asp51Asn|202/2486|151/2121|51/706||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding|3/8|c.46G>A|p.Asp16Asn|386/1012|46/672|16/223||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000456894|protein_coding|2/6|c.46G>A|p.Asp16Asn|435/1004|46/615|16/204||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000420859|protein_coding|3/5|c.46G>A|p.Asp16Asn|202/538|46/382|16/126||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000452294|protein_coding|3/5|c.46G>A|p.Asp16Asn|233/621|46/434|16/143||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000433561|protein_coding|2/4|c.46G>A|p.Asp16Asn|160/444|46/330|16/109||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000417332|protein_coding|2/4|c.46G>A|p.Asp16Asn|217/545|46/374|16/123||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000439339|protein_coding|3/5|c.46G>A|p.Asp16Asn|290/546|46/302|16/99||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|4/18|c.46G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|2/18|c.46G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|3/18|c.46G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|5/19|c.46G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|3/19|c.46G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|7/19|c.46G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|4/19|c.46G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|8/19|c.46G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|6/19|c.46G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|5/19|c.46G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|3/19|c.46G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|4/19|c.46G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|6/19|c.46G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|5/19|c.46G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|3/19|c.46G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|4/19|c.46G>A||||||,T|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding||c.-3G>A|||||2269|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000480307|retained_intron||n.-1G>A|||||1142|,T|downstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.*500C>T|||||3542|,T|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000494273|retained_intron|3/4|n.194G>A|||||| 22 39148589 . G A . . ANN=A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|2/18|c.45C>T|p.Asp15Asp|319/4022|45/2217|15/738||,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|3/19|c.45C>T|p.Asp15Asp|404/4055|45/2154|15/717||,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|2/18|c.45C>T|p.Asp15Asp|262/3908|45/2154|15/717||,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|3/19|c.45C>T|p.Asp15Asp|258/2725|45/2154|15/717||,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|3/18|c.150C>T|p.Asp50Asp|201/2486|150/2121|50/706||,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding|3/8|c.45C>T|p.Asp15Asp|385/1012|45/672|15/223||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000456894|protein_coding|2/6|c.45C>T|p.Asp15Asp|434/1004|45/615|15/204||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000420859|protein_coding|3/5|c.45C>T|p.Asp15Asp|201/538|45/382|15/126||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000452294|protein_coding|3/5|c.45C>T|p.Asp15Asp|232/621|45/434|15/143||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000433561|protein_coding|2/4|c.45C>T|p.Asp15Asp|159/444|45/330|15/109||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000417332|protein_coding|2/4|c.45C>T|p.Asp15Asp|216/545|45/374|15/123||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|SUN2|ENSG00000100242|transcript|ENST00000439339|protein_coding|3/5|c.45C>T|p.Asp15Asp|289/546|45/302|15/99||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|4/18|c.45C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|2/18|c.45C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|3/18|c.45C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|5/19|c.45C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|3/19|c.45C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|7/19|c.45C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|4/19|c.45C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|8/19|c.45C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|6/19|c.45C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|5/19|c.45C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|3/19|c.45C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|4/19|c.45C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|6/19|c.45C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|5/19|c.45C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|3/19|c.45C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|4/19|c.45C>T||||||,A|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding||c.-3C>T|||||2270|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000480307|retained_intron||n.-1C>T|||||1143|,A|downstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.*500G>A|||||3543|,A|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000494273|retained_intron|3/4|n.193C>T|||||| 22 39148606 . G A . . ANN=A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|2/18|c.28C>T|p.Arg10Cys|302/4022|28/2217|10/738||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|3/19|c.28C>T|p.Arg10Cys|387/4055|28/2154|10/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|2/18|c.28C>T|p.Arg10Cys|245/3908|28/2154|10/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|3/19|c.28C>T|p.Arg10Cys|241/2725|28/2154|10/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|3/18|c.133C>T|p.Arg45Cys|184/2486|133/2121|45/706||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding|3/8|c.28C>T|p.Arg10Cys|368/1012|28/672|10/223||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000456894|protein_coding|2/6|c.28C>T|p.Arg10Cys|417/1004|28/615|10/204||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000420859|protein_coding|3/5|c.28C>T|p.Arg10Cys|184/538|28/382|10/126||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000452294|protein_coding|3/5|c.28C>T|p.Arg10Cys|215/621|28/434|10/143||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000433561|protein_coding|2/4|c.28C>T|p.Arg10Cys|142/444|28/330|10/109||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000417332|protein_coding|2/4|c.28C>T|p.Arg10Cys|199/545|28/374|10/123||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000439339|protein_coding|3/5|c.28C>T|p.Arg10Cys|272/546|28/302|10/99||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|4/18|c.28C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|2/18|c.28C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|3/18|c.28C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|5/19|c.28C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|3/19|c.28C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|7/19|c.28C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|4/19|c.28C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|8/19|c.28C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|6/19|c.28C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|5/19|c.28C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|3/19|c.28C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|4/19|c.28C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|6/19|c.28C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|5/19|c.28C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|3/19|c.28C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|4/19|c.28C>T||||||,A|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding||c.-3C>T|||||2287|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000480307|retained_intron||n.-1C>T|||||1160|,A|downstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.*500G>A|||||3560|,A|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000494273|retained_intron|3/4|n.176C>T|||||| 22 39148608 . G A . . ANN=A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|2/18|c.26C>T|p.Thr9Met|300/4022|26/2217|9/738||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|3/19|c.26C>T|p.Thr9Met|385/4055|26/2154|9/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|2/18|c.26C>T|p.Thr9Met|243/3908|26/2154|9/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|3/19|c.26C>T|p.Thr9Met|239/2725|26/2154|9/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|3/18|c.131C>T|p.Thr44Met|182/2486|131/2121|44/706||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding|3/8|c.26C>T|p.Thr9Met|366/1012|26/672|9/223||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000456894|protein_coding|2/6|c.26C>T|p.Thr9Met|415/1004|26/615|9/204||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000420859|protein_coding|3/5|c.26C>T|p.Thr9Met|182/538|26/382|9/126||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000452294|protein_coding|3/5|c.26C>T|p.Thr9Met|213/621|26/434|9/143||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000433561|protein_coding|2/4|c.26C>T|p.Thr9Met|140/444|26/330|9/109||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000417332|protein_coding|2/4|c.26C>T|p.Thr9Met|197/545|26/374|9/123||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000439339|protein_coding|3/5|c.26C>T|p.Thr9Met|270/546|26/302|9/99||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|4/18|c.26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|2/18|c.26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|3/18|c.26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|5/19|c.26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|3/19|c.26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|7/19|c.26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|4/19|c.26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|8/19|c.26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|6/19|c.26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|5/19|c.26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|3/19|c.26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|4/19|c.26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|6/19|c.26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|5/19|c.26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|3/19|c.26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|4/19|c.26C>T||||||,A|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding||c.-3C>T|||||2289|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000480307|retained_intron||n.-1C>T|||||1162|,A|downstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.*500G>A|||||3562|,A|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000494273|retained_intron|3/4|n.174C>T|||||| 22 39175438 . G C . . ANN=C|3_prime_UTR_variant|MODIFIER|DNAL4|ENSG00000100246|transcript|ENST00000216068|protein_coding|4/4|c.*16C>G|||||16|,C|downstream_gene_variant|MODIFIER|DNAL4|ENSG00000100246|transcript|ENST00000406199|protein_coding||c.*477C>G|||||1285|,C|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|1/18|c.-137-13100C>G||||||,C|non_coding_exon_variant|MODIFIER|DNAL4|ENSG00000100246|transcript|ENST00000486019|processed_transcript|2/2|n.262C>G|||||| 22 39176886 . G A . . ANN=A|synonymous_variant|LOW|DNAL4|ENSG00000100246|transcript|ENST00000406199|protein_coding|3/3|c.198C>T|p.Pro66Pro|468/631|198/207|66/68||,A|downstream_gene_variant|MODIFIER|DNAL4|ENSG00000100246|transcript|ENST00000475512|processed_transcript||n.*758C>T|||||4424|,A|intron_variant|MODIFIER|DNAL4|ENSG00000100246|transcript|ENST00000216068|protein_coding|3/3|c.153+45C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|1/18|c.-138+13187C>T||||||,A|intron_variant|MODIFIER|DNAL4|ENSG00000100246|transcript|ENST00000486019|processed_transcript|1/1|n.82-1268C>T|||||| 22 39176911 . G A . . ANN=A|missense_variant|MODERATE|DNAL4|ENSG00000100246|transcript|ENST00000406199|protein_coding|3/3|c.173C>T|p.Ala58Val|443/631|173/207|58/68||,A|downstream_gene_variant|MODIFIER|DNAL4|ENSG00000100246|transcript|ENST00000475512|processed_transcript||n.*758C>T|||||4399|,A|intron_variant|MODIFIER|DNAL4|ENSG00000100246|transcript|ENST00000216068|protein_coding|3/3|c.153+20C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|1/18|c.-138+13162C>T||||||,A|intron_variant|MODIFIER|DNAL4|ENSG00000100246|transcript|ENST00000486019|processed_transcript|1/1|n.82-1293C>T|||||| 22 39176976 . C A . . ANN=A|missense_variant|MODERATE|DNAL4|ENSG00000100246|transcript|ENST00000216068|protein_coding|3/4|c.108G>T|p.Met36Ile|353/1504|108/318|36/105||,A|missense_variant|MODERATE|DNAL4|ENSG00000100246|transcript|ENST00000406199|protein_coding|3/3|c.108G>T|p.Met36Ile|378/631|108/207|36/68||,A|downstream_gene_variant|MODIFIER|DNAL4|ENSG00000100246|transcript|ENST00000475512|processed_transcript||n.*758G>T|||||4334|,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|1/18|c.-138+13097G>T||||||,A|intron_variant|MODIFIER|DNAL4|ENSG00000100246|transcript|ENST00000486019|processed_transcript|1/1|n.82-1358G>T|||||| 22 39178637 . G A . . ANN=A|downstream_gene_variant|MODIFIER|DNAL4|ENSG00000100246|transcript|ENST00000475512|processed_transcript||n.*758C>T|||||2673|,A|intron_variant|MODIFIER|DNAL4|ENSG00000100246|transcript|ENST00000216068|protein_coding|2/3|c.69+31C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|1/18|c.-138+11436C>T||||||,A|intron_variant|MODIFIER|DNAL4|ENSG00000100246|transcript|ENST00000486019|processed_transcript|1/1|n.82-3019C>T||||||,A|intron_variant|MODIFIER|DNAL4|ENSG00000100246|transcript|ENST00000406199|protein_coding|2/2|c.69+31C>T|||||| 22 39178701 . A G . . ANN=G|synonymous_variant|LOW|DNAL4|ENSG00000100246|transcript|ENST00000216068|protein_coding|2/4|c.36T>C|p.Asp12Asp|281/1504|36/318|12/105||,G|synonymous_variant|LOW|DNAL4|ENSG00000100246|transcript|ENST00000406199|protein_coding|2/3|c.36T>C|p.Asp12Asp|306/631|36/207|12/68||,G|downstream_gene_variant|MODIFIER|DNAL4|ENSG00000100246|transcript|ENST00000475512|processed_transcript||n.*758T>C|||||2609|,G|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|1/18|c.-138+11372T>C||||||,G|intron_variant|MODIFIER|DNAL4|ENSG00000100246|transcript|ENST00000486019|processed_transcript|1/1|n.82-3083T>C|||||| 22 39218572 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|NPTXR|ENSG00000221890|transcript|ENST00000333039|protein_coding|5/5|c.*42G>A|||||42| 22 39218662 . A G . . ANN=G|synonymous_variant|LOW|NPTXR|ENSG00000221890|transcript|ENST00000333039|protein_coding|5/5|c.1455T>C|p.Gly485Gly|1579/5784|1455/1503|485/500|| 22 39218763 . C T . . ANN=T|missense_variant|MODERATE|NPTXR|ENSG00000221890|transcript|ENST00000333039|protein_coding|5/5|c.1354G>A|p.Ala452Thr|1478/5784|1354/1503|452/500|| 22 39218764 . G A . . ANN=A|synonymous_variant|LOW|NPTXR|ENSG00000221890|transcript|ENST00000333039|protein_coding|5/5|c.1353C>T|p.His451His|1477/5784|1353/1503|451/500|| 22 39218819 . A G . . ANN=G|missense_variant|MODERATE|NPTXR|ENSG00000221890|transcript|ENST00000333039|protein_coding|5/5|c.1298T>C|p.Phe433Ser|1422/5784|1298/1503|433/500|| 22 39219069 . A G . . ANN=G|intron_variant|MODIFIER|NPTXR|ENSG00000221890|transcript|ENST00000333039|protein_coding|4/4|c.1278+19T>C|||||| 22 39219172 . G A . . ANN=A|synonymous_variant|LOW|NPTXR|ENSG00000221890|transcript|ENST00000333039|protein_coding|4/5|c.1194C>T|p.Asp398Asp|1318/5784|1194/1503|398/500|| 22 39219213 . C T . . ANN=T|missense_variant|MODERATE|NPTXR|ENSG00000221890|transcript|ENST00000333039|protein_coding|4/5|c.1153G>A|p.Ala385Thr|1277/5784|1153/1503|385/500|| 22 39222502 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|NPTXR|ENSG00000221890|transcript|ENST00000333039|protein_coding|3/4|c.1098+3A>G|||||| 22 39222512 . T C . . ANN=C|missense_variant|MODERATE|NPTXR|ENSG00000221890|transcript|ENST00000333039|protein_coding|3/5|c.1091A>G|p.Asn364Ser|1215/5784|1091/1503|364/500|| 22 39222589 . G A . . ANN=A|synonymous_variant|LOW|NPTXR|ENSG00000221890|transcript|ENST00000333039|protein_coding|3/5|c.1014C>T|p.Phe338Phe|1138/5784|1014/1503|338/500|| 22 39222598 . G A . . ANN=A|synonymous_variant|LOW|NPTXR|ENSG00000221890|transcript|ENST00000333039|protein_coding|3/5|c.1005C>T|p.Gly335Gly|1129/5784|1005/1503|335/500|| 22 39222627 . G A . . ANN=A|missense_variant|MODERATE|NPTXR|ENSG00000221890|transcript|ENST00000333039|protein_coding|3/5|c.976C>T|p.Arg326Trp|1100/5784|976/1503|326/500|| 22 39222635 . A G . . ANN=G|missense_variant|MODERATE|NPTXR|ENSG00000221890|transcript|ENST00000333039|protein_coding|3/5|c.968T>C|p.Met323Thr|1092/5784|968/1503|323/500|| 22 39222652 . G A . . ANN=A|synonymous_variant|LOW|NPTXR|ENSG00000221890|transcript|ENST00000333039|protein_coding|3/5|c.951C>T|p.Tyr317Tyr|1075/5784|951/1503|317/500|| 22 39222661 . G T . . ANN=T|synonymous_variant|LOW|NPTXR|ENSG00000221890|transcript|ENST00000333039|protein_coding|3/5|c.942C>A|p.Pro314Pro|1066/5784|942/1503|314/500|| 22 39222771 . G C . . ANN=C|intron_variant|MODIFIER|NPTXR|ENSG00000221890|transcript|ENST00000333039|protein_coding|2/4|c.851-19C>G|||||| 22 39222796 . G A . . ANN=A|intron_variant|MODIFIER|NPTXR|ENSG00000221890|transcript|ENST00000333039|protein_coding|2/4|c.851-44C>T|||||| 22 39224248 . T C . . ANN=C|intron_variant|MODIFIER|NPTXR|ENSG00000221890|transcript|ENST00000333039|protein_coding|2/4|c.850+44A>G|||||| 22 39224312 . C T . . ANN=T|missense_variant|MODERATE|NPTXR|ENSG00000221890|transcript|ENST00000333039|protein_coding|2/5|c.830G>A|p.Arg277His|954/5784|830/1503|277/500|| 22 39224357 . C T . . ANN=T|missense_variant|MODERATE|NPTXR|ENSG00000221890|transcript|ENST00000333039|protein_coding|2/5|c.785G>A|p.Arg262Gln|909/5784|785/1503|262/500|| 22 39224383 . A G . . ANN=G|synonymous_variant|LOW|NPTXR|ENSG00000221890|transcript|ENST00000333039|protein_coding|2/5|c.759T>C|p.Arg253Arg|883/5784|759/1503|253/500|| 22 39224453 . C T . . ANN=T|missense_variant|MODERATE|NPTXR|ENSG00000221890|transcript|ENST00000333039|protein_coding|2/5|c.689G>A|p.Gly230Asp|813/5784|689/1503|230/500|| 22 39224491 . G A . . ANN=A|synonymous_variant|LOW|NPTXR|ENSG00000221890|transcript|ENST00000333039|protein_coding|2/5|c.651C>T|p.Leu217Leu|775/5784|651/1503|217/500|| 22 39262225 . C G . . ANN=G|missense_variant|MODERATE|CBX6|ENSG00000183741|transcript|ENST00000407418|protein_coding|5/5|c.1228G>C|p.Ala410Pro|1352/6122|1228/1239|410/412||,G|missense_variant|MODERATE|CBX6|ENSG00000183741|transcript|ENST00000216083|protein_coding|5/5|c.1174G>C|p.Ala392Pro|1200/3191|1174/1185|392/394||,G|downstream_gene_variant|MODIFIER|CBX6|ENSG00000183741|transcript|ENST00000469420|retained_intron||n.*2213G>C|||||3352| 22 39262240 . C T . . ANN=T|missense_variant|MODERATE|CBX6|ENSG00000183741|transcript|ENST00000407418|protein_coding|5/5|c.1213G>A|p.Gly405Ser|1337/6122|1213/1239|405/412||,T|missense_variant|MODERATE|CBX6|ENSG00000183741|transcript|ENST00000216083|protein_coding|5/5|c.1159G>A|p.Gly387Ser|1185/3191|1159/1185|387/394||,T|downstream_gene_variant|MODIFIER|CBX6|ENSG00000183741|transcript|ENST00000469420|retained_intron||n.*2213G>A|||||3337| 22 39262378 . G A . . ANN=A|missense_variant|MODERATE|CBX6|ENSG00000183741|transcript|ENST00000407418|protein_coding|5/5|c.1075C>T|p.Arg359Cys|1199/6122|1075/1239|359/412||,A|missense_variant|MODERATE|CBX6|ENSG00000183741|transcript|ENST00000216083|protein_coding|5/5|c.1021C>T|p.Arg341Cys|1047/3191|1021/1185|341/394||,A|downstream_gene_variant|MODIFIER|CBX6|ENSG00000183741|transcript|ENST00000469420|retained_intron||n.*2213C>T|||||3199| 22 39262411 . C T . . ANN=T|missense_variant|MODERATE|CBX6|ENSG00000183741|transcript|ENST00000407418|protein_coding|5/5|c.1042G>A|p.Gly348Ser|1166/6122|1042/1239|348/412||,T|missense_variant|MODERATE|CBX6|ENSG00000183741|transcript|ENST00000216083|protein_coding|5/5|c.988G>A|p.Gly330Ser|1014/3191|988/1185|330/394||,T|downstream_gene_variant|MODIFIER|CBX6|ENSG00000183741|transcript|ENST00000469420|retained_intron||n.*2213G>A|||||3166| 22 39262466 . C A . . ANN=A|synonymous_variant|LOW|CBX6|ENSG00000183741|transcript|ENST00000407418|protein_coding|5/5|c.987G>T|p.Pro329Pro|1111/6122|987/1239|329/412||,A|synonymous_variant|LOW|CBX6|ENSG00000183741|transcript|ENST00000216083|protein_coding|5/5|c.933G>T|p.Pro311Pro|959/3191|933/1185|311/394||,A|downstream_gene_variant|MODIFIER|CBX6|ENSG00000183741|transcript|ENST00000469420|retained_intron||n.*2213G>T|||||3111| 22 39262577 . G A . . ANN=A|synonymous_variant|LOW|CBX6|ENSG00000183741|transcript|ENST00000407418|protein_coding|5/5|c.876C>T|p.Pro292Pro|1000/6122|876/1239|292/412||,A|synonymous_variant|LOW|CBX6|ENSG00000183741|transcript|ENST00000216083|protein_coding|5/5|c.822C>T|p.Pro274Pro|848/3191|822/1185|274/394||,A|downstream_gene_variant|MODIFIER|CBX6|ENSG00000183741|transcript|ENST00000469420|retained_intron||n.*2213C>T|||||3000| 22 39262730 . G C . . ANN=C|synonymous_variant|LOW|CBX6|ENSG00000183741|transcript|ENST00000407418|protein_coding|5/5|c.723C>G|p.Pro241Pro|847/6122|723/1239|241/412||,C|synonymous_variant|LOW|CBX6|ENSG00000183741|transcript|ENST00000216083|protein_coding|5/5|c.669C>G|p.Pro223Pro|695/3191|669/1185|223/394||,C|downstream_gene_variant|MODIFIER|CBX6|ENSG00000183741|transcript|ENST00000469420|retained_intron||n.*2213C>G|||||2847| 22 39262739 . C T . . ANN=T|synonymous_variant|LOW|CBX6|ENSG00000183741|transcript|ENST00000407418|protein_coding|5/5|c.714G>A|p.Pro238Pro|838/6122|714/1239|238/412||,T|synonymous_variant|LOW|CBX6|ENSG00000183741|transcript|ENST00000216083|protein_coding|5/5|c.660G>A|p.Pro220Pro|686/3191|660/1185|220/394||,T|downstream_gene_variant|MODIFIER|CBX6|ENSG00000183741|transcript|ENST00000469420|retained_intron||n.*2213G>A|||||2838| 22 39262740 . G C . . ANN=C|missense_variant|MODERATE|CBX6|ENSG00000183741|transcript|ENST00000407418|protein_coding|5/5|c.713C>G|p.Pro238Arg|837/6122|713/1239|238/412||,C|missense_variant|MODERATE|CBX6|ENSG00000183741|transcript|ENST00000216083|protein_coding|5/5|c.659C>G|p.Pro220Arg|685/3191|659/1185|220/394||,C|downstream_gene_variant|MODIFIER|CBX6|ENSG00000183741|transcript|ENST00000469420|retained_intron||n.*2213C>G|||||2837| 22 39262793 . C T . . ANN=T|synonymous_variant|LOW|CBX6|ENSG00000183741|transcript|ENST00000407418|protein_coding|5/5|c.660G>A|p.Leu220Leu|784/6122|660/1239|220/412||,T|synonymous_variant|LOW|CBX6|ENSG00000183741|transcript|ENST00000216083|protein_coding|5/5|c.606G>A|p.Leu202Leu|632/3191|606/1185|202/394||,T|downstream_gene_variant|MODIFIER|CBX6|ENSG00000183741|transcript|ENST00000469420|retained_intron||n.*2213G>A|||||2784| 22 39262800 . C T . . ANN=T|missense_variant|MODERATE|CBX6|ENSG00000183741|transcript|ENST00000407418|protein_coding|5/5|c.653G>A|p.Ser218Asn|777/6122|653/1239|218/412||,T|missense_variant|MODERATE|CBX6|ENSG00000183741|transcript|ENST00000216083|protein_coding|5/5|c.599G>A|p.Ser200Asn|625/3191|599/1185|200/394||,T|downstream_gene_variant|MODIFIER|CBX6|ENSG00000183741|transcript|ENST00000469420|retained_intron||n.*2213G>A|||||2777| 22 39262852 . T C . . ANN=C|missense_variant|MODERATE|CBX6|ENSG00000183741|transcript|ENST00000407418|protein_coding|5/5|c.601A>G|p.Lys201Glu|725/6122|601/1239|201/412||,C|missense_variant|MODERATE|CBX6|ENSG00000183741|transcript|ENST00000216083|protein_coding|5/5|c.547A>G|p.Lys183Glu|573/3191|547/1185|183/394||,C|downstream_gene_variant|MODIFIER|CBX6|ENSG00000183741|transcript|ENST00000469420|retained_intron||n.*2213A>G|||||2725| 22 39263032 . C G . . ANN=G|missense_variant|MODERATE|CBX6|ENSG00000183741|transcript|ENST00000407418|protein_coding|5/5|c.421G>C|p.Gly141Arg|545/6122|421/1239|141/412||,G|missense_variant|MODERATE|CBX6|ENSG00000183741|transcript|ENST00000216083|protein_coding|5/5|c.367G>C|p.Gly123Arg|393/3191|367/1185|123/394||,G|downstream_gene_variant|MODIFIER|CBX6|ENSG00000183741|transcript|ENST00000469420|retained_intron||n.*2213G>C|||||2545| 22 39263050 . G C . . ANN=C|missense_variant|MODERATE|CBX6|ENSG00000183741|transcript|ENST00000407418|protein_coding|5/5|c.403C>G|p.Pro135Ala|527/6122|403/1239|135/412||,C|missense_variant|MODERATE|CBX6|ENSG00000183741|transcript|ENST00000216083|protein_coding|5/5|c.349C>G|p.Pro117Ala|375/3191|349/1185|117/394||,C|downstream_gene_variant|MODIFIER|CBX6|ENSG00000183741|transcript|ENST00000469420|retained_intron||n.*2213C>G|||||2527| 22 39263162 . G A . . ANN=A|synonymous_variant|LOW|CBX6|ENSG00000183741|transcript|ENST00000407418|protein_coding|5/5|c.291C>T|p.Phe97Phe|415/6122|291/1239|97/412||,A|downstream_gene_variant|MODIFIER|CBX6|ENSG00000183741|transcript|ENST00000469420|retained_intron||n.*2213C>T|||||2415|,A|intron_variant|MODIFIER|CBX6|ENSG00000183741|transcript|ENST00000216083|protein_coding|4/4|c.247-10C>T|||||| 22 39267453 . A T . . ANN=T|intron_variant|MODIFIER|CBX6|ENSG00000183741|transcript|ENST00000407418|protein_coding|4/4|c.246+32T>A||||||,T|intron_variant|MODIFIER|CBX6|ENSG00000183741|transcript|ENST00000216083|protein_coding|4/4|c.246+32T>A||||||,T|non_coding_exon_variant|MODIFIER|CBX6|ENSG00000183741|transcript|ENST00000469420|retained_intron|4/4|n.337T>A|||||| 22 39267515 . C T . . ANN=T|synonymous_variant|LOW|CBX6|ENSG00000183741|transcript|ENST00000407418|protein_coding|4/5|c.216G>A|p.Arg72Arg|340/6122|216/1239|72/412||,T|synonymous_variant|LOW|CBX6|ENSG00000183741|transcript|ENST00000216083|protein_coding|4/5|c.216G>A|p.Arg72Arg|242/3191|216/1185|72/394||,T|non_coding_exon_variant|MODIFIER|CBX6|ENSG00000183741|transcript|ENST00000469420|retained_intron|4/4|n.275G>A|||||| 22 39267653 . G A . . ANN=A|sequence_feature|LOW|CBX6|ENSG00000183741|domain:Chromo|ENST00000407418|protein_coding|4/5|c.179+44C>T||||||,A|sequence_feature|LOW|CBX6|ENSG00000183741|domain:Chromo|ENST00000407418|protein_coding|2/5|c.179+44C>T||||||,A|sequence_feature|LOW|CBX6|ENSG00000183741|domain:Chromo|ENST00000407418|protein_coding|1/5|c.179+44C>T||||||,A|sequence_feature|LOW|CBX6|ENSG00000183741|domain:Chromo|ENST00000407418|protein_coding|3/5|c.179+44C>T||||||,A|sequence_feature|LOW|CBX6|ENSG00000183741|helix|ENST00000407418|protein_coding|4/5|c.179+44C>T||||||,A|sequence_feature|LOW|CBX6|ENSG00000183741|helix|ENST00000407418|protein_coding|3/5|c.179+44C>T||||||,A|intron_variant|MODIFIER|CBX6|ENSG00000183741|transcript|ENST00000407418|protein_coding|3/4|c.179+44C>T||||||,A|intron_variant|MODIFIER|CBX6|ENSG00000183741|transcript|ENST00000216083|protein_coding|3/4|c.179+44C>T||||||,A|intron_variant|MODIFIER|CBX6|ENSG00000183741|transcript|ENST00000469420|retained_intron|3/3|n.238+44C>T|||||| 22 39267670 . C A . . ANN=A|sequence_feature|LOW|CBX6|ENSG00000183741|domain:Chromo|ENST00000407418|protein_coding|4/5|c.179+27G>T||||||,A|sequence_feature|LOW|CBX6|ENSG00000183741|domain:Chromo|ENST00000407418|protein_coding|2/5|c.179+27G>T||||||,A|sequence_feature|LOW|CBX6|ENSG00000183741|domain:Chromo|ENST00000407418|protein_coding|1/5|c.179+27G>T||||||,A|sequence_feature|LOW|CBX6|ENSG00000183741|domain:Chromo|ENST00000407418|protein_coding|3/5|c.179+27G>T||||||,A|sequence_feature|LOW|CBX6|ENSG00000183741|helix|ENST00000407418|protein_coding|4/5|c.179+27G>T||||||,A|sequence_feature|LOW|CBX6|ENSG00000183741|helix|ENST00000407418|protein_coding|3/5|c.179+27G>T||||||,A|intron_variant|MODIFIER|CBX6|ENSG00000183741|transcript|ENST00000407418|protein_coding|3/4|c.179+27G>T||||||,A|intron_variant|MODIFIER|CBX6|ENSG00000183741|transcript|ENST00000216083|protein_coding|3/4|c.179+27G>T||||||,A|intron_variant|MODIFIER|CBX6|ENSG00000183741|transcript|ENST00000469420|retained_intron|3/3|n.238+27G>T|||||| 22 39267688 . A G . . ANN=G|sequence_feature|LOW|CBX6|ENSG00000183741|domain:Chromo|ENST00000407418|protein_coding|4/5|c.179+9T>C||||||,G|sequence_feature|LOW|CBX6|ENSG00000183741|domain:Chromo|ENST00000407418|protein_coding|2/5|c.179+9T>C||||||,G|sequence_feature|LOW|CBX6|ENSG00000183741|domain:Chromo|ENST00000407418|protein_coding|1/5|c.179+9T>C||||||,G|sequence_feature|LOW|CBX6|ENSG00000183741|domain:Chromo|ENST00000407418|protein_coding|3/5|c.179+9T>C||||||,G|sequence_feature|LOW|CBX6|ENSG00000183741|helix|ENST00000407418|protein_coding|4/5|c.179+9T>C||||||,G|sequence_feature|LOW|CBX6|ENSG00000183741|helix|ENST00000407418|protein_coding|3/5|c.179+9T>C||||||,G|intron_variant|MODIFIER|CBX6|ENSG00000183741|transcript|ENST00000407418|protein_coding|3/4|c.179+9T>C||||||,G|intron_variant|MODIFIER|CBX6|ENSG00000183741|transcript|ENST00000216083|protein_coding|3/4|c.179+9T>C||||||,G|intron_variant|MODIFIER|CBX6|ENSG00000183741|transcript|ENST00000469420|retained_intron|3/3|n.238+9T>C|||||| 22 39267876 . C G . . ANN=G|sequence_feature|LOW|CBX6|ENSG00000183741|domain:Chromo|ENST00000407418|protein_coding|4/5|c.113+31G>C||||||,G|sequence_feature|LOW|CBX6|ENSG00000183741|domain:Chromo|ENST00000407418|protein_coding|2/5|c.113+31G>C||||||,G|sequence_feature|LOW|CBX6|ENSG00000183741|domain:Chromo|ENST00000407418|protein_coding|1/5|c.113+31G>C||||||,G|sequence_feature|LOW|CBX6|ENSG00000183741|domain:Chromo|ENST00000407418|protein_coding|3/5|c.113+31G>C||||||,G|sequence_feature|LOW|CBX6|ENSG00000183741|helix|ENST00000407418|protein_coding|2/5|c.113+31G>C||||||,G|sequence_feature|LOW|CBX6|ENSG00000183741|helix|ENST00000407418|protein_coding|3/5|c.113+31G>C||||||,G|intron_variant|MODIFIER|CBX6|ENSG00000183741|transcript|ENST00000407418|protein_coding|2/4|c.113+31G>C||||||,G|intron_variant|MODIFIER|CBX6|ENSG00000183741|transcript|ENST00000216083|protein_coding|2/4|c.113+31G>C||||||,G|intron_variant|MODIFIER|CBX6|ENSG00000183741|transcript|ENST00000469420|retained_intron|2/3|n.172+31G>C|||||| 22 39353680 . C G . . ANN=G|5_prime_UTR_variant|MODIFIER|APOBEC3A|ENSG00000128383|transcript|ENST00000249116|protein_coding|1/5|c.-17C>G|||||17|,G|5_prime_UTR_variant|MODIFIER|APOBEC3A|ENSG00000128383|transcript|ENST00000402255|protein_coding|2/6|c.-17C>G|||||17|,G|downstream_gene_variant|MODIFIER|APOBEC3A|ENSG00000128383|transcript|ENST00000495988|processed_transcript||n.*566C>G|||||4259|,G|non_coding_exon_variant|MODIFIER|APOBEC3A|ENSG00000128383|transcript|ENST00000488758|retained_intron|1/2|n.154C>G|||||| 22 39353743 . G A . . ANN=A|downstream_gene_variant|MODIFIER|APOBEC3A|ENSG00000128383|transcript|ENST00000495988|processed_transcript||n.*566G>A|||||4322|,A|intron_variant|MODIFIER|APOBEC3A|ENSG00000128383|transcript|ENST00000249116|protein_coding|1/4|c.29+18G>A||||||,A|intron_variant|MODIFIER|APOBEC3A|ENSG00000128383|transcript|ENST00000402255|protein_coding|2/5|c.29+18G>A||||||,A|intron_variant|MODIFIER|APOBEC3A|ENSG00000128383|transcript|ENST00000488758|retained_intron|1/1|n.199+18G>A|||||| 22 39353754 . C T . . ANN=T|downstream_gene_variant|MODIFIER|APOBEC3A|ENSG00000128383|transcript|ENST00000495988|processed_transcript||n.*566C>T|||||4333|,T|intron_variant|MODIFIER|APOBEC3A|ENSG00000128383|transcript|ENST00000249116|protein_coding|1/4|c.29+29C>T||||||,T|intron_variant|MODIFIER|APOBEC3A|ENSG00000128383|transcript|ENST00000402255|protein_coding|2/5|c.29+29C>T||||||,T|intron_variant|MODIFIER|APOBEC3A|ENSG00000128383|transcript|ENST00000488758|retained_intron|1/1|n.199+29C>T|||||| 22 39355501 . C T . . ANN=T|intron_variant|MODIFIER|APOBEC3A|ENSG00000128383|transcript|ENST00000249116|protein_coding|1/4|c.30-46C>T||||||,T|intron_variant|MODIFIER|APOBEC3A|ENSG00000128383|transcript|ENST00000402255|protein_coding|2/5|c.30-46C>T||||||,T|intron_variant|MODIFIER|APOBEC3A|ENSG00000128383|transcript|ENST00000488758|retained_intron|1/1|n.200-46C>T|||||| 22 39355572 . A G . . ANN=G|missense_variant|MODERATE|APOBEC3A|ENSG00000128383|transcript|ENST00000249116|protein_coding|2/5|c.55A>G|p.Thr19Ala|225/1444|55/600|19/199||,G|missense_variant|MODERATE|APOBEC3A|ENSG00000128383|transcript|ENST00000402255|protein_coding|3/6|c.55A>G|p.Thr19Ala|259/1478|55/600|19/199||,G|sequence_feature|LOW|APOBEC3A|ENSG00000128383|helix|ENST00000249116|protein_coding|2/5|c.55A>G||||||,G|non_coding_exon_variant|MODIFIER|APOBEC3A|ENSG00000128383|transcript|ENST00000488758|retained_intron|2/2|n.225A>G|||||| 22 39355631 . G A . . ANN=A|synonymous_variant|LOW|APOBEC3A|ENSG00000128383|transcript|ENST00000249116|protein_coding|2/5|c.114G>A|p.Glu38Glu|284/1444|114/600|38/199||,A|synonymous_variant|LOW|APOBEC3A|ENSG00000128383|transcript|ENST00000402255|protein_coding|3/6|c.114G>A|p.Glu38Glu|318/1478|114/600|38/199||,A|sequence_feature|LOW|APOBEC3A|ENSG00000128383|beta_strand|ENST00000249116|protein_coding|2/5|c.114G>A||||||,A|non_coding_exon_variant|MODIFIER|APOBEC3A|ENSG00000128383|transcript|ENST00000488758|retained_intron|2/2|n.284G>A|||||| 22 39355632 . C T . . ANN=T|missense_variant|MODERATE|APOBEC3A|ENSG00000128383|transcript|ENST00000249116|protein_coding|2/5|c.115C>T|p.Arg39Cys|285/1444|115/600|39/199||,T|missense_variant|MODERATE|APOBEC3A|ENSG00000128383|transcript|ENST00000402255|protein_coding|3/6|c.115C>T|p.Arg39Cys|319/1478|115/600|39/199||,T|sequence_feature|LOW|APOBEC3A|ENSG00000128383|beta_strand|ENST00000249116|protein_coding|2/5|c.115C>T||||||,T|non_coding_exon_variant|MODIFIER|APOBEC3A|ENSG00000128383|transcript|ENST00000488758|retained_intron|2/2|n.285C>T|||||| 22 39355717 . G A . . ANN=A|downstream_gene_variant|MODIFIER|APOBEC3A|ENSG00000128383|transcript|ENST00000488758|retained_intron||n.*344G>A|||||26|,A|intron_variant|MODIFIER|APOBEC3A|ENSG00000128383|transcript|ENST00000249116|protein_coding|2/4|c.174+26G>A||||||,A|intron_variant|MODIFIER|APOBEC3A|ENSG00000128383|transcript|ENST00000402255|protein_coding|3/5|c.174+26G>A|||||| 22 39358069 . G A . . ANN=A|sequence_feature|LOW|APOBEC3A|ENSG00000128383|helix|ENST00000249116|protein_coding|4/5|c.470-34G>A||||||,A|sequence_feature|LOW|APOBEC3A|ENSG00000128383|helix|ENST00000249116|protein_coding|3/5|c.470-34G>A||||||,A|downstream_gene_variant|MODIFIER|APOBEC3A|ENSG00000128383|transcript|ENST00000488758|retained_intron||n.*344G>A|||||2378|,A|intron_variant|MODIFIER|APOBEC3A|ENSG00000128383|transcript|ENST00000249116|protein_coding|3/4|c.470-34G>A||||||,A|intron_variant|MODIFIER|APOBEC3A|ENSG00000128383|transcript|ENST00000402255|protein_coding|4/5|c.470-34G>A|||||| 22 39378441 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000402182|protein_coding|1/7|c.-18G>A|||||18|,A|5_prime_UTR_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000407298|protein_coding|1/8|c.-18G>A|||||18|,A|5_prime_UTR_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000335760|nonsense_mediated_decay|1/7|n.-18G>A|||||18|,A|5_prime_UTR_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000333467|protein_coding|1/8|c.-18G>A|||||18|,A|non_coding_exon_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000335760|nonsense_mediated_decay|1/7|n.-18G>A|||||| 22 39378446 . T TAA . . ANN=AA|5_prime_UTR_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000402182|protein_coding|1/7|c.-12_-11dupAA|||||10|INFO_REALIGN_3_PRIME,AA|5_prime_UTR_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000407298|protein_coding|1/8|c.-12_-11dupAA|||||10|INFO_REALIGN_3_PRIME,AA|5_prime_UTR_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000335760|nonsense_mediated_decay|1/7|n.-12_-11dupAA|||||10|INFO_REALIGN_3_PRIME,AA|5_prime_UTR_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000333467|protein_coding|1/8|c.-12_-11dupAA|||||10|INFO_REALIGN_3_PRIME,AA|non_coding_exon_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000335760|nonsense_mediated_decay|1/7|n.-12_-11dupAA||||||INFO_REALIGN_3_PRIME 22 39378459 . A G . . ANN=G|start_lost|HIGH|APOBEC3B|ENSG00000179750|transcript|ENST00000402182|protein_coding|1/7|c.1A>G|p.Met1?|56/1844|1/1473|1/490||,G|start_lost|HIGH|APOBEC3B|ENSG00000179750|transcript|ENST00000407298|protein_coding|1/8|c.1A>G|p.Met1?|108/1282|1/1074|1/357||,G|start_lost|HIGH|APOBEC3B|ENSG00000179750|transcript|ENST00000333467|protein_coding|1/8|c.1A>G|p.Met1?|46/1533|1/1149|1/382||,G|non_coding_exon_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000335760|nonsense_mediated_decay|1/7|n.1A>G||||||;LOF=(APOBEC3B|ENSG00000179750|4|0.75) 22 39378523 . CT C . . ANN=|intron_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000402182|protein_coding|1/6|c.17+49delT||||||,|intron_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000407298|protein_coding|1/7|c.17+49delT||||||,|intron_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000335760|nonsense_mediated_decay|1/6|n.17+49delT||||||,|intron_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000333467|protein_coding|1/7|c.17+49delT|||||| 22 39380066 . TC T . . ANN=|intron_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000402182|protein_coding|1/6|c.18-13delC||||||,|intron_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000407298|protein_coding|1/7|c.18-13delC||||||,|intron_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000335760|nonsense_mediated_decay|1/6|n.18-13delC||||||,|intron_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000333467|protein_coding|1/7|c.18-13delC|||||| 22 39380218 . AG A . . ANN=|frameshift_variant|HIGH|APOBEC3B|ENSG00000179750|transcript|ENST00000402182|protein_coding|2/7|c.160delG|p.Val54fs|215/1844|160/1473|54/490||INFO_REALIGN_3_PRIME,|frameshift_variant|HIGH|APOBEC3B|ENSG00000179750|transcript|ENST00000407298|protein_coding|2/8|c.160delG|p.Val54fs|267/1282|160/1074|54/357||INFO_REALIGN_3_PRIME,|frameshift_variant|HIGH|APOBEC3B|ENSG00000179750|transcript|ENST00000333467|protein_coding|2/8|c.160delG|p.Val54fs|205/1533|160/1149|54/382||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000335760|nonsense_mediated_decay|2/7|n.160delG||||||INFO_REALIGN_3_PRIME;LOF=(APOBEC3B|ENSG00000179750|4|0.75) 22 39382079 . C A . . ANN=A|missense_variant|MODERATE|APOBEC3B|ENSG00000179750|transcript|ENST00000402182|protein_coding|3/7|c.437C>A|p.Thr146Lys|492/1844|437/1473|146/490||,A|missense_variant|MODERATE|APOBEC3B|ENSG00000179750|transcript|ENST00000407298|protein_coding|3/8|c.437C>A|p.Thr146Lys|544/1282|437/1074|146/357||,A|missense_variant|MODERATE|APOBEC3B|ENSG00000179750|transcript|ENST00000333467|protein_coding|3/8|c.437C>A|p.Thr146Lys|482/1533|437/1149|146/382||,A|non_coding_exon_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000335760|nonsense_mediated_decay|3/7|n.437C>A|||||| 22 39382081 . A G . . ANN=G|missense_variant|MODERATE|APOBEC3B|ENSG00000179750|transcript|ENST00000402182|protein_coding|3/7|c.439A>G|p.Ile147Val|494/1844|439/1473|147/490||,G|missense_variant|MODERATE|APOBEC3B|ENSG00000179750|transcript|ENST00000407298|protein_coding|3/8|c.439A>G|p.Ile147Val|546/1282|439/1074|147/357||,G|missense_variant|MODERATE|APOBEC3B|ENSG00000179750|transcript|ENST00000333467|protein_coding|3/8|c.439A>G|p.Ile147Val|484/1533|439/1149|147/382||,G|non_coding_exon_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000335760|nonsense_mediated_decay|3/7|n.439A>G|||||| 22 39382255 . G A . . ANN=A|intron_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000402182|protein_coding|3/6|c.455-48G>A||||||,A|intron_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000407298|protein_coding|3/7|c.455-48G>A||||||,A|intron_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000335760|nonsense_mediated_decay|3/6|n.455-48G>A||||||,A|intron_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000333467|protein_coding|3/7|c.455-48G>A|||||| 22 39382348 . A C . . ANN=C|missense_variant|MODERATE|APOBEC3B|ENSG00000179750|transcript|ENST00000402182|protein_coding|4/7|c.500A>C|p.Gln167Pro|555/1844|500/1473|167/490||,C|missense_variant|MODERATE|APOBEC3B|ENSG00000179750|transcript|ENST00000407298|protein_coding|4/8|c.500A>C|p.Gln167Pro|607/1282|500/1074|167/357||,C|missense_variant|MODERATE|APOBEC3B|ENSG00000179750|transcript|ENST00000333467|protein_coding|4/8|c.500A>C|p.Gln167Pro|545/1533|500/1149|167/382||,C|non_coding_exon_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000335760|nonsense_mediated_decay|4/7|n.500A>C|||||| 22 39382376 . A C . . ANN=C|missense_variant|MODERATE|APOBEC3B|ENSG00000179750|transcript|ENST00000402182|protein_coding|4/7|c.528A>C|p.Glu176Asp|583/1844|528/1473|176/490||,C|missense_variant|MODERATE|APOBEC3B|ENSG00000179750|transcript|ENST00000407298|protein_coding|4/8|c.528A>C|p.Glu176Asp|635/1282|528/1074|176/357||,C|missense_variant|MODERATE|APOBEC3B|ENSG00000179750|transcript|ENST00000333467|protein_coding|4/8|c.528A>C|p.Glu176Asp|573/1533|528/1149|176/382||,C|non_coding_exon_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000335760|nonsense_mediated_decay|4/7|n.528A>C|||||| 22 39382387 . T C . . ANN=C|missense_variant|MODERATE|APOBEC3B|ENSG00000179750|transcript|ENST00000402182|protein_coding|4/7|c.539T>C|p.Phe180Ser|594/1844|539/1473|180/490||,C|missense_variant|MODERATE|APOBEC3B|ENSG00000179750|transcript|ENST00000407298|protein_coding|4/8|c.539T>C|p.Phe180Ser|646/1282|539/1074|180/357||,C|missense_variant|MODERATE|APOBEC3B|ENSG00000179750|transcript|ENST00000333467|protein_coding|4/8|c.539T>C|p.Phe180Ser|584/1533|539/1149|180/382||,C|non_coding_exon_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000335760|nonsense_mediated_decay|4/7|n.539T>C|||||| 22 39382414 . T C . . ANN=C|missense_variant|MODERATE|APOBEC3B|ENSG00000179750|transcript|ENST00000402182|protein_coding|4/7|c.566T>C|p.Leu189Pro|621/1844|566/1473|189/490||,C|missense_variant|MODERATE|APOBEC3B|ENSG00000179750|transcript|ENST00000407298|protein_coding|4/8|c.566T>C|p.Leu189Pro|673/1282|566/1074|189/357||,C|missense_variant|MODERATE|APOBEC3B|ENSG00000179750|transcript|ENST00000333467|protein_coding|4/8|c.566T>C|p.Leu189Pro|611/1533|566/1149|189/382||,C|non_coding_exon_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000335760|nonsense_mediated_decay|4/7|n.566T>C|||||| 22 39382418 . G A . . ANN=A|splice_donor_variant&intron_variant|HIGH|APOBEC3B|ENSG00000179750|transcript|ENST00000402182|protein_coding|4/6|c.569+1G>A||||||,A|splice_donor_variant&intron_variant|HIGH|APOBEC3B|ENSG00000179750|transcript|ENST00000407298|protein_coding|4/7|c.569+1G>A||||||,A|splice_donor_variant&intron_variant|HIGH|APOBEC3B|ENSG00000179750|transcript|ENST00000335760|nonsense_mediated_decay|4/6|n.569+1G>A||||||,A|splice_donor_variant&intron_variant|HIGH|APOBEC3B|ENSG00000179750|transcript|ENST00000333467|protein_coding|4/7|c.569+1G>A||||||;LOF=(APOBEC3B|ENSG00000179750|4|0.75) 22 39382443 . A G . . ANN=G|intron_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000402182|protein_coding|4/6|c.569+26A>G||||||,G|intron_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000407298|protein_coding|4/7|c.569+26A>G||||||,G|intron_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000335760|nonsense_mediated_decay|4/6|n.569+26A>G||||||,G|intron_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000333467|protein_coding|4/7|c.569+26A>G|||||| 22 39382447 . C G . . ANN=G|intron_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000402182|protein_coding|4/6|c.569+30C>G||||||,G|intron_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000407298|protein_coding|4/7|c.569+30C>G||||||,G|intron_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000335760|nonsense_mediated_decay|4/6|n.569+30C>G||||||,G|intron_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000333467|protein_coding|4/7|c.569+30C>G|||||| 22 39385422 . G A,T . . ANN=A|downstream_gene_variant|MODIFIER|APOBEC3B-AS1|ENSG00000249310|transcript|ENST00000513758|antisense||n.*691C>T|||||2142|,T|downstream_gene_variant|MODIFIER|APOBEC3B-AS1|ENSG00000249310|transcript|ENST00000513758|antisense||n.*691C>A|||||2142|,A|intron_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000402182|protein_coding|4/6|c.570-40G>A||||||,T|intron_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000402182|protein_coding|4/6|c.570-40G>T||||||,A|intron_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000407298|protein_coding|4/7|c.570-40G>A||||||,T|intron_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000407298|protein_coding|4/7|c.570-40G>T||||||,A|intron_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000335760|nonsense_mediated_decay|4/6|n.570-1915G>A||||||,T|intron_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000335760|nonsense_mediated_decay|4/6|n.570-1915G>T||||||,A|intron_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000333467|protein_coding|4/7|c.570-40G>A||||||,T|intron_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000333467|protein_coding|4/7|c.570-40G>T|||||| 22 39385423 . A C . . ANN=C|downstream_gene_variant|MODIFIER|APOBEC3B-AS1|ENSG00000249310|transcript|ENST00000513758|antisense||n.*691T>G|||||2141|,C|intron_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000402182|protein_coding|4/6|c.570-39A>C||||||,C|intron_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000407298|protein_coding|4/7|c.570-39A>C||||||,C|intron_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000335760|nonsense_mediated_decay|4/6|n.570-1914A>C||||||,C|intron_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000333467|protein_coding|4/7|c.570-39A>C|||||| 22 39385463 . T C . . ANN=C|missense_variant&splice_region_variant|MODERATE|APOBEC3B|ENSG00000179750|transcript|ENST00000402182|protein_coding|5/7|c.571T>C|p.Tyr191His|626/1844|571/1473|191/490||,C|missense_variant&splice_region_variant|MODERATE|APOBEC3B|ENSG00000179750|transcript|ENST00000407298|protein_coding|5/8|c.571T>C|p.Tyr191His|678/1282|571/1074|191/357||,C|missense_variant&splice_region_variant|MODERATE|APOBEC3B|ENSG00000179750|transcript|ENST00000333467|protein_coding|5/8|c.571T>C|p.Tyr191His|616/1533|571/1149|191/382||,C|downstream_gene_variant|MODIFIER|APOBEC3B-AS1|ENSG00000249310|transcript|ENST00000513758|antisense||n.*691A>G|||||2101|,C|intron_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000335760|nonsense_mediated_decay|4/6|n.570-1874T>C|||||| 22 39385510 . T C . . ANN=C|synonymous_variant|LOW|APOBEC3B|ENSG00000179750|transcript|ENST00000402182|protein_coding|5/7|c.618T>C|p.Pro206Pro|673/1844|618/1473|206/490||,C|synonymous_variant|LOW|APOBEC3B|ENSG00000179750|transcript|ENST00000407298|protein_coding|5/8|c.618T>C|p.Pro206Pro|725/1282|618/1074|206/357||,C|synonymous_variant|LOW|APOBEC3B|ENSG00000179750|transcript|ENST00000333467|protein_coding|5/8|c.618T>C|p.Pro206Pro|663/1533|618/1149|206/382||,C|downstream_gene_variant|MODIFIER|APOBEC3B-AS1|ENSG00000249310|transcript|ENST00000513758|antisense||n.*691A>G|||||2054|,C|intron_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000335760|nonsense_mediated_decay|4/6|n.570-1827T>C|||||| 22 39385622 . G A,C,T . . ANN=A|splice_region_variant&intron_variant|LOW|APOBEC3B|ENSG00000179750|transcript|ENST00000402182|protein_coding|5/6|c.723+7G>A||||||,C|splice_region_variant&intron_variant|LOW|APOBEC3B|ENSG00000179750|transcript|ENST00000402182|protein_coding|5/6|c.723+7G>C||||||,T|splice_region_variant&intron_variant|LOW|APOBEC3B|ENSG00000179750|transcript|ENST00000402182|protein_coding|5/6|c.723+7G>T||||||,A|splice_region_variant&intron_variant|LOW|APOBEC3B|ENSG00000179750|transcript|ENST00000407298|protein_coding|5/7|c.723+7G>A||||||,C|splice_region_variant&intron_variant|LOW|APOBEC3B|ENSG00000179750|transcript|ENST00000407298|protein_coding|5/7|c.723+7G>C||||||,T|splice_region_variant&intron_variant|LOW|APOBEC3B|ENSG00000179750|transcript|ENST00000407298|protein_coding|5/7|c.723+7G>T||||||,A|splice_region_variant&intron_variant|LOW|APOBEC3B|ENSG00000179750|transcript|ENST00000333467|protein_coding|5/7|c.723+7G>A||||||,C|splice_region_variant&intron_variant|LOW|APOBEC3B|ENSG00000179750|transcript|ENST00000333467|protein_coding|5/7|c.723+7G>C||||||,T|splice_region_variant&intron_variant|LOW|APOBEC3B|ENSG00000179750|transcript|ENST00000333467|protein_coding|5/7|c.723+7G>T||||||,A|downstream_gene_variant|MODIFIER|APOBEC3B-AS1|ENSG00000249310|transcript|ENST00000513758|antisense||n.*691C>T|||||1942|,C|downstream_gene_variant|MODIFIER|APOBEC3B-AS1|ENSG00000249310|transcript|ENST00000513758|antisense||n.*691C>G|||||1942|,T|downstream_gene_variant|MODIFIER|APOBEC3B-AS1|ENSG00000249310|transcript|ENST00000513758|antisense||n.*691C>A|||||1942|,A|intron_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000335760|nonsense_mediated_decay|4/6|n.570-1715G>A||||||,C|intron_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000335760|nonsense_mediated_decay|4/6|n.570-1715G>C||||||,T|intron_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000335760|nonsense_mediated_decay|4/6|n.570-1715G>T|||||| 22 39385639 . C T . . ANN=T|downstream_gene_variant|MODIFIER|APOBEC3B-AS1|ENSG00000249310|transcript|ENST00000513758|antisense||n.*691G>A|||||1925|,T|intron_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000402182|protein_coding|5/6|c.723+24C>T||||||,T|intron_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000407298|protein_coding|5/7|c.723+24C>T||||||,T|intron_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000335760|nonsense_mediated_decay|4/6|n.570-1698C>T||||||,T|intron_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000333467|protein_coding|5/7|c.723+24C>T|||||| 22 39385663 . G A . . ANN=A|downstream_gene_variant|MODIFIER|APOBEC3B-AS1|ENSG00000249310|transcript|ENST00000513758|antisense||n.*691C>T|||||1901|,A|intron_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000402182|protein_coding|5/6|c.723+48G>A||||||,A|intron_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000407298|protein_coding|5/7|c.723+48G>A||||||,A|intron_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000335760|nonsense_mediated_decay|4/6|n.570-1674G>A||||||,A|intron_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000333467|protein_coding|5/7|c.723+48G>A|||||| 22 39387395 . TG T . . ANN=|frameshift_variant|HIGH|APOBEC3B|ENSG00000179750|transcript|ENST00000402182|protein_coding|6/7|c.784delG|p.Val262fs|839/1844|784/1473|262/490||INFO_REALIGN_3_PRIME,|frameshift_variant|HIGH|APOBEC3B|ENSG00000179750|transcript|ENST00000333467|protein_coding|6/8|c.784delG|p.Val262fs|829/1533|784/1149|262/382||INFO_REALIGN_3_PRIME,|sequence_feature|LOW|APOBEC3B|ENSG00000179750|domain:CMP/dCMP_deaminase_zinc-binding_2|ENST00000333467|protein_coding|6/8|c.783delG||||||,|downstream_gene_variant|MODIFIER|APOBEC3B-AS1|ENSG00000249310|transcript|ENST00000513758|antisense||n.*691delC|||||168|,|intron_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000407298|protein_coding|5/7|c.724-15delG||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000335760|nonsense_mediated_decay|5/7|n.630delG||||||INFO_REALIGN_3_PRIME;LOF=(APOBEC3B|ENSG00000179750|4|0.50) 22 39388010 . C T . . ANN=T|intron_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000402182|protein_coding|6/6|c.1019-29C>T||||||,T|intron_variant|MODIFIER|APOBEC3B-AS1|ENSG00000249310|transcript|ENST00000513758|antisense|4/4|n.632-387G>A||||||,T|intron_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000407298|protein_coding|6/7|c.944-29C>T||||||,T|intron_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000335760|nonsense_mediated_decay|5/6|n.*109-29C>T||||||,T|intron_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000333467|protein_coding|6/7|c.1019-29C>T|||||| 22 39388046 . G C . . ANN=C|missense_variant|MODERATE|APOBEC3B|ENSG00000179750|transcript|ENST00000402182|protein_coding|7/7|c.1026G>C|p.Glu342Asp|1081/1844|1026/1473|342/490||,C|missense_variant|MODERATE|APOBEC3B|ENSG00000179750|transcript|ENST00000407298|protein_coding|7/8|c.951G>C|p.Glu317Asp|1058/1282|951/1074|317/357||,C|missense_variant|MODERATE|APOBEC3B|ENSG00000179750|transcript|ENST00000333467|protein_coding|7/8|c.1026G>C|p.Glu342Asp|1071/1533|1026/1149|342/382||,C|3_prime_UTR_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000335760|nonsense_mediated_decay|6/7|n.*116G>C|||||523|,C|intron_variant|MODIFIER|APOBEC3B-AS1|ENSG00000249310|transcript|ENST00000513758|antisense|4/4|n.631+357C>G||||||,C|non_coding_exon_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000335760|nonsense_mediated_decay|6/7|n.*116G>C|||||| 22 39388163 . T C . . ANN=C|synonymous_variant|LOW|APOBEC3B|ENSG00000179750|transcript|ENST00000402182|protein_coding|7/7|c.1143T>C|p.Ala381Ala|1198/1844|1143/1473|381/490||,C|intron_variant|MODIFIER|APOBEC3B-AS1|ENSG00000249310|transcript|ENST00000513758|antisense|4/4|n.631+240A>G||||||,C|intron_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000407298|protein_coding|7/7|c.1059+9T>C||||||,C|intron_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000335760|nonsense_mediated_decay|6/6|n.*224+9T>C||||||,C|intron_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000333467|protein_coding|7/7|c.1134+9T>C|||||| 22 39410388 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|APOBEC3C|ENSG00000244509|transcript|ENST00000361441|protein_coding|1/3|c.17+4C>T||||||,T|splice_region_variant&intron_variant|LOW|APOBEC3C|ENSG00000244509|transcript|ENST00000428892|nonsense_mediated_decay|1/2|n.17+4C>T||||||,T|splice_region_variant&intron_variant|LOW|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|1/6|c.17+4C>T|||||| 22 39411555 . C T . . ANN=T|intron_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000361441|protein_coding|1/3|c.18-45C>T||||||,T|intron_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000428892|nonsense_mediated_decay|1/2|n.17+1171C>T||||||,T|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|1/6|c.17+1171C>T|||||| 22 39411619 . T C . . ANN=C|missense_variant|MODERATE|APOBEC3C|ENSG00000244509|transcript|ENST00000361441|protein_coding|2/4|c.37T>C|p.Tyr13His|317/2818|37/573|13/190||,C|intron_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000428892|nonsense_mediated_decay|1/2|n.17+1235T>C||||||,C|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|1/6|c.17+1235T>C|||||| 22 39411696 . C T . . ANN=T|synonymous_variant|LOW|APOBEC3C|ENSG00000244509|transcript|ENST00000361441|protein_coding|2/4|c.114C>T|p.Thr38Thr|394/2818|114/573|38/190||,T|sequence_feature|LOW|APOBEC3C|ENSG00000244509|beta_strand|ENST00000361441|protein_coding|2/4|c.114C>T||||||,T|intron_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000428892|nonsense_mediated_decay|1/2|n.17+1312C>T||||||,T|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|1/6|c.17+1312C>T|||||| 22 39411711 . G C . . ANN=C|missense_variant|MODERATE|APOBEC3C|ENSG00000244509|transcript|ENST00000361441|protein_coding|2/4|c.129G>C|p.Lys43Asn|409/2818|129/573|43/190||,C|sequence_feature|LOW|APOBEC3C|ENSG00000244509|beta_strand|ENST00000361441|protein_coding|2/4|c.129G>C||||||,C|intron_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000428892|nonsense_mediated_decay|1/2|n.17+1327G>C||||||,C|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|1/6|c.17+1327G>C|||||| 22 39411738 . G A . . ANN=A|synonymous_variant|LOW|APOBEC3C|ENSG00000244509|transcript|ENST00000361441|protein_coding|2/4|c.156G>A|p.Thr52Thr|436/2818|156/573|52/190||,A|sequence_feature|LOW|APOBEC3C|ENSG00000244509|beta_strand|ENST00000361441|protein_coding|2/4|c.156G>A||||||,A|intron_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000428892|nonsense_mediated_decay|1/2|n.17+1354G>A||||||,A|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|1/6|c.17+1354G>A|||||| 22 39413744 . CCT C . . ANN=|upstream_gene_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding||c.-408_-408delCT|||||3373|,|upstream_gene_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding||c.-69_-69delCT|||||3712|,|intron_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000361441|protein_coding|2/3|c.175-26_175-25delCT||||||,|intron_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000428892|nonsense_mediated_decay|1/2|n.18-26_18-25delCT||||||,|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|1/6|c.17+3361_17+3362delCT|||||| 22 39413748 . T C . . ANN=C|upstream_gene_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding||c.-408T>C|||||3370|,C|upstream_gene_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding||c.-69T>C|||||3709|,C|intron_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000361441|protein_coding|2/3|c.175-23T>C||||||,C|intron_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000428892|nonsense_mediated_decay|1/2|n.18-23T>C||||||,C|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|1/6|c.17+3364T>C|||||| 22 39413782 . G C . . ANN=C|missense_variant|MODERATE|APOBEC3C|ENSG00000244509|transcript|ENST00000361441|protein_coding|3/4|c.186G>C|p.Glu62Asp|466/2818|186/573|62/190||,C|upstream_gene_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding||c.-408G>C|||||3336|,C|upstream_gene_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding||c.-69G>C|||||3675|,C|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|1/6|c.17+3398G>C||||||,C|non_coding_exon_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000428892|nonsense_mediated_decay|2/3|n.29G>C|||||| 22 39413784 . C T . . ANN=T|missense_variant|MODERATE|APOBEC3C|ENSG00000244509|transcript|ENST00000361441|protein_coding|3/4|c.188C>T|p.Thr63Ile|468/2818|188/573|63/190||,T|sequence_feature|LOW|APOBEC3C|ENSG00000244509|helix|ENST00000361441|protein_coding|3/4|c.188C>T||||||,T|upstream_gene_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding||c.-408C>T|||||3334|,T|upstream_gene_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding||c.-69C>T|||||3673|,T|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|1/6|c.17+3400C>T||||||,T|non_coding_exon_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000428892|nonsense_mediated_decay|2/3|n.31C>T|||||| 22 39413824 . C T . . ANN=T|synonymous_variant|LOW|APOBEC3C|ENSG00000244509|transcript|ENST00000361441|protein_coding|3/4|c.228C>T|p.Cys76Cys|508/2818|228/573|76/190||,T|sequence_feature|LOW|APOBEC3C|ENSG00000244509|domain:CMP/dCMP_deaminase_zinc-binding|ENST00000361441|protein_coding|3/4|c.228C>T||||||,T|upstream_gene_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding||c.-408C>T|||||3294|,T|upstream_gene_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding||c.-69C>T|||||3633|,T|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|1/6|c.17+3440C>T||||||,T|non_coding_exon_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000428892|nonsense_mediated_decay|2/3|n.71C>T|||||| 22 39413871 . C T . . ANN=T|missense_variant|MODERATE|APOBEC3C|ENSG00000244509|transcript|ENST00000361441|protein_coding|3/4|c.275C>T|p.Thr92Ile|555/2818|275/573|92/190||,T|sequence_feature|LOW|APOBEC3C|ENSG00000244509|domain:CMP/dCMP_deaminase_zinc-binding|ENST00000361441|protein_coding|3/4|c.275C>T||||||,T|sequence_feature|LOW|APOBEC3C|ENSG00000244509|beta_strand|ENST00000361441|protein_coding|3/4|c.275C>T||||||,T|upstream_gene_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding||c.-408C>T|||||3247|,T|upstream_gene_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding||c.-69C>T|||||3586|,T|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|1/6|c.17+3487C>T||||||,T|non_coding_exon_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000428892|nonsense_mediated_decay|2/3|n.118C>T|||||| 22 39414026 . G A . . ANN=A|missense_variant|MODERATE|APOBEC3C|ENSG00000244509|transcript|ENST00000361441|protein_coding|3/4|c.430G>A|p.Ala144Thr|710/2818|430/573|144/190||,A|sequence_feature|LOW|APOBEC3C|ENSG00000244509|beta_strand|ENST00000361441|protein_coding|3/4|c.430G>A||||||,A|3_prime_UTR_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000428892|nonsense_mediated_decay|2/3|n.*87G>A|||||87|,A|upstream_gene_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding||c.-408G>A|||||3092|,A|upstream_gene_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding||c.-69G>A|||||3431|,A|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|1/6|c.17+3642G>A||||||,A|non_coding_exon_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000428892|nonsense_mediated_decay|2/3|n.*87G>A|||||| 22 39414042 . A C . . ANN=C|missense_variant|MODERATE|APOBEC3C|ENSG00000244509|transcript|ENST00000361441|protein_coding|3/4|c.446A>C|p.Asp149Ala|726/2818|446/573|149/190||,C|3_prime_UTR_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000428892|nonsense_mediated_decay|2/3|n.*103A>C|||||103|,C|upstream_gene_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding||c.-408A>C|||||3076|,C|upstream_gene_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding||c.-69A>C|||||3415|,C|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|1/6|c.17+3658A>C||||||,C|non_coding_exon_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000428892|nonsense_mediated_decay|2/3|n.*103A>C|||||| 22 39414087 . G A . . ANN=A|sequence_feature|LOW|APOBEC3C|ENSG00000244509|helix|ENST00000361441|protein_coding|3/4|c.454+37G>A||||||,A|sequence_feature|LOW|APOBEC3C|ENSG00000244509|helix|ENST00000361441|protein_coding|4/4|c.454+37G>A||||||,A|upstream_gene_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding||c.-408G>A|||||3031|,A|upstream_gene_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding||c.-69G>A|||||3370|,A|intron_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000361441|protein_coding|3/3|c.454+37G>A||||||,A|intron_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000428892|nonsense_mediated_decay|2/2|n.*111+37G>A||||||,A|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|1/6|c.17+3703G>A|||||| 22 39414090 . A T . . ANN=T|sequence_feature|LOW|APOBEC3C|ENSG00000244509|helix|ENST00000361441|protein_coding|3/4|c.454+40A>T||||||,T|sequence_feature|LOW|APOBEC3C|ENSG00000244509|helix|ENST00000361441|protein_coding|4/4|c.454+40A>T||||||,T|upstream_gene_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding||c.-408A>T|||||3028|,T|upstream_gene_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding||c.-69A>T|||||3367|,T|intron_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000361441|protein_coding|3/3|c.454+40A>T||||||,T|intron_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000428892|nonsense_mediated_decay|2/2|n.*111+40A>T||||||,T|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|1/6|c.17+3706A>T|||||| 22 39414224 . A G . . ANN=G|sequence_feature|LOW|APOBEC3C|ENSG00000244509|helix|ENST00000361441|protein_coding|3/4|c.455-50A>G||||||,G|sequence_feature|LOW|APOBEC3C|ENSG00000244509|helix|ENST00000361441|protein_coding|4/4|c.455-50A>G||||||,G|upstream_gene_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding||c.-408A>G|||||2894|,G|upstream_gene_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding||c.-69A>G|||||3233|,G|intron_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000361441|protein_coding|3/3|c.455-50A>G||||||,G|intron_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000428892|nonsense_mediated_decay|2/2|n.*112-50A>G||||||,G|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|1/6|c.17+3840A>G|||||| 22 39414240 . G A . . ANN=A|sequence_feature|LOW|APOBEC3C|ENSG00000244509|helix|ENST00000361441|protein_coding|3/4|c.455-34G>A||||||,A|sequence_feature|LOW|APOBEC3C|ENSG00000244509|helix|ENST00000361441|protein_coding|4/4|c.455-34G>A||||||,A|upstream_gene_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding||c.-408G>A|||||2878|,A|upstream_gene_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding||c.-69G>A|||||3217|,A|intron_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000361441|protein_coding|3/3|c.455-34G>A||||||,A|intron_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000428892|nonsense_mediated_decay|2/2|n.*112-34G>A||||||,A|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|1/6|c.17+3856G>A|||||| 22 39414282 . T C . . ANN=C|missense_variant|MODERATE|APOBEC3C|ENSG00000244509|transcript|ENST00000361441|protein_coding|4/4|c.463T>C|p.Tyr155His|743/2818|463/573|155/190||,C|sequence_feature|LOW|APOBEC3C|ENSG00000244509|helix|ENST00000361441|protein_coding|3/4|c.463T>C||||||,C|sequence_feature|LOW|APOBEC3C|ENSG00000244509|helix|ENST00000361441|protein_coding|4/4|c.463T>C||||||,C|3_prime_UTR_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000428892|nonsense_mediated_decay|3/3|n.*120T>C|||||343|,C|upstream_gene_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding||c.-408T>C|||||2836|,C|upstream_gene_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding||c.-69T>C|||||3175|,C|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|1/6|c.17+3898T>C||||||,C|non_coding_exon_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000428892|nonsense_mediated_decay|3/3|n.*120T>C|||||| 22 39414382 . G T . . ANN=T|missense_variant|MODERATE|APOBEC3C|ENSG00000244509|transcript|ENST00000361441|protein_coding|4/4|c.563G>T|p.Ser188Ile|843/2818|563/573|188/190||,T|sequence_feature|LOW|APOBEC3C|ENSG00000244509|helix|ENST00000361441|protein_coding|4/4|c.563G>T||||||,T|3_prime_UTR_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000428892|nonsense_mediated_decay|3/3|n.*220G>T|||||443|,T|upstream_gene_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding||c.-408G>T|||||2736|,T|upstream_gene_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding||c.-69G>T|||||3075|,T|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|1/6|c.17+3998G>T||||||,T|non_coding_exon_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000428892|nonsense_mediated_decay|3/3|n.*220G>T|||||| 22 39414439 . A G . . ANN=G|3_prime_UTR_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000361441|protein_coding|4/4|c.*47A>G|||||47|,G|3_prime_UTR_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000428892|nonsense_mediated_decay|3/3|n.*277A>G|||||500|,G|upstream_gene_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding||c.-408A>G|||||2679|,G|upstream_gene_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding||c.-69A>G|||||3018|,G|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|1/6|c.17+4055A>G||||||,G|non_coding_exon_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000428892|nonsense_mediated_decay|3/3|n.*277A>G|||||| 22 39417547 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding|1/6|c.17+6G>A||||||,A|splice_region_variant&intron_variant|LOW|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding|1/3|c.17+6G>A||||||,A|downstream_gene_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000361441|protein_coding||c.*853G>A|||||1190|,A|downstream_gene_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000428892|nonsense_mediated_decay||n.*287G>A|||||2616|,A|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|1/6|c.18-1280G>A|||||| 22 39417553 . C CACTAT . . ANN=ACTAT|downstream_gene_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000361441|protein_coding||c.*853_*853insACTAT|||||1197|,ACTAT|downstream_gene_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000428892|nonsense_mediated_decay||n.*287_*287insACTAT|||||2623|,ACTAT|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding|1/6|c.17+13_17+17dupACTAT||||||INFO_REALIGN_3_PRIME,ACTAT|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|1/6|c.18-1273_18-1269dupACTAT||||||INFO_REALIGN_3_PRIME,ACTAT|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding|1/3|c.17+13_17+17dupACTAT||||||INFO_REALIGN_3_PRIME 22 39417573 . TC T . . ANN=|downstream_gene_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000361441|protein_coding||c.*853delC|||||1217|,|downstream_gene_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000428892|nonsense_mediated_decay||n.*287delC|||||2643|,|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding|1/6|c.17+34delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|1/6|c.18-1252delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding|1/3|c.17+34delC||||||INFO_REALIGN_3_PRIME 22 39417583 . TC T . . ANN=|downstream_gene_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000361441|protein_coding||c.*853delC|||||1227|,|downstream_gene_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000428892|nonsense_mediated_decay||n.*287delC|||||2653|,|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding|1/6|c.17+44delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|1/6|c.18-1242delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding|1/3|c.17+44delC||||||INFO_REALIGN_3_PRIME 22 39421109 . GCTT G . . ANN=|disruptive_inframe_deletion|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding|3/7|c.249_251delCTT|p.Phe83del|656/2528|249/1161|83/386||INFO_REALIGN_3_PRIME,|disruptive_inframe_deletion|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|3/7|c.249_251delCTT|p.Phe83del|249/1161|249/1161|83/386||INFO_REALIGN_3_PRIME,|sequence_feature|LOW|APOBEC3D|ENSG00000243811|domain:CMP/dCMP_deaminase_zinc-binding_1|ENST00000381568|protein_coding|3/7|c.246_248delCTT||||||,|downstream_gene_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000361441|protein_coding||c.*853_*853delCTT|||||4753|,|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding|2/3|c.210+2094_210+2096delCTT||||||INFO_REALIGN_3_PRIME 22 39421112 . T G . . ANN=G|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding|3/7|c.248T>G|p.Phe83Cys|655/2528|248/1161|83/386||,G|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|3/7|c.248T>G|p.Phe83Cys|248/1161|248/1161|83/386||,G|sequence_feature|LOW|APOBEC3D|ENSG00000243811|domain:CMP/dCMP_deaminase_zinc-binding_1|ENST00000381568|protein_coding|3/7|c.248T>G||||||,G|downstream_gene_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000361441|protein_coding||c.*853T>G|||||4755|,G|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding|2/3|c.210+2093T>G|||||| 22 39421118 . C T . . ANN=T|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding|3/7|c.254C>T|p.Ser85Phe|661/2528|254/1161|85/386||,T|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|3/7|c.254C>T|p.Ser85Phe|254/1161|254/1161|85/386||,T|sequence_feature|LOW|APOBEC3D|ENSG00000243811|domain:CMP/dCMP_deaminase_zinc-binding_1|ENST00000381568|protein_coding|3/7|c.254C>T||||||,T|downstream_gene_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000361441|protein_coding||c.*853C>T|||||4761|,T|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding|2/3|c.210+2099C>T|||||| 22 39421122 . G C . . ANN=C|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding|3/7|c.258G>C|p.Trp86Cys|665/2528|258/1161|86/386||,C|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|3/7|c.258G>C|p.Trp86Cys|258/1161|258/1161|86/386||,C|sequence_feature|LOW|APOBEC3D|ENSG00000243811|domain:CMP/dCMP_deaminase_zinc-binding_1|ENST00000381568|protein_coding|3/7|c.258G>C||||||,C|downstream_gene_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000361441|protein_coding||c.*853G>C|||||4765|,C|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding|2/3|c.210+2103G>C|||||| 22 39421136 . G C . . ANN=C|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding|3/7|c.272G>C|p.Arg91Pro|679/2528|272/1161|91/386||,C|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|3/7|c.272G>C|p.Arg91Pro|272/1161|272/1161|91/386||,C|sequence_feature|LOW|APOBEC3D|ENSG00000243811|domain:CMP/dCMP_deaminase_zinc-binding_1|ENST00000381568|protein_coding|3/7|c.272G>C||||||,C|downstream_gene_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000361441|protein_coding||c.*853G>C|||||4779|,C|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding|2/3|c.210+2117G>C|||||| 22 39421153 . C T . . ANN=T|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding|3/7|c.289C>T|p.Arg97Cys|696/2528|289/1161|97/386||,T|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|3/7|c.289C>T|p.Arg97Cys|289/1161|289/1161|97/386||,T|sequence_feature|LOW|APOBEC3D|ENSG00000243811|domain:CMP/dCMP_deaminase_zinc-binding_1|ENST00000381568|protein_coding|3/7|c.289C>T||||||,T|downstream_gene_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000361441|protein_coding||c.*853C>T|||||4796|,T|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding|2/3|c.210+2134C>T|||||| 22 39421201 . G A . . ANN=A|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding|3/7|c.337G>A|p.Val113Met|744/2528|337/1161|113/386||,A|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|3/7|c.337G>A|p.Val113Met|337/1161|337/1161|113/386||,A|downstream_gene_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000361441|protein_coding||c.*853G>A|||||4844|,A|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding|2/3|c.210+2182G>A|||||| 22 39421240 . G A . . ANN=A|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding|3/7|c.376G>A|p.Val126Ile|783/2528|376/1161|126/386||,A|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|3/7|c.376G>A|p.Val126Ile|376/1161|376/1161|126/386||,A|downstream_gene_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000361441|protein_coding||c.*853G>A|||||4883|,A|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding|2/3|c.210+2221G>A|||||| 22 39421367 . G C . . ANN=C|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding|3/6|c.490+13G>C||||||,C|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|3/6|c.490+13G>C||||||,C|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding|2/3|c.210+2348G>C|||||| 22 39421382 . T C . . ANN=C|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding|3/6|c.490+28T>C||||||,C|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|3/6|c.490+28T>C||||||,C|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding|2/3|c.210+2363T>C|||||| 22 39421383 . G A . . ANN=A|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding|3/6|c.490+29G>A||||||,A|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|3/6|c.490+29G>A||||||,A|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding|2/3|c.210+2364G>A|||||| 22 39421512 . A G . . ANN=G|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding|3/6|c.491-50A>G||||||,G|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|3/6|c.491-50A>G||||||,G|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding|2/3|c.210+2493A>G|||||| 22 39421526 . G A . . ANN=A|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding|3/6|c.491-36G>A||||||,A|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|3/6|c.491-36G>A||||||,A|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding|2/3|c.210+2507G>A|||||| 22 39421564 . T A . . ANN=A|missense_variant&splice_region_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding|4/7|c.493T>A|p.Phe165Ile|900/2528|493/1161|165/386||,A|missense_variant&splice_region_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|4/7|c.493T>A|p.Phe165Ile|493/1161|493/1161|165/386||,A|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding|2/3|c.210+2545T>A|||||| 22 39421586 . T G . . ANN=G|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding|4/7|c.515T>G|p.Phe172Cys|922/2528|515/1161|172/386||,G|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|4/7|c.515T>G|p.Phe172Cys|515/1161|515/1161|172/386||,G|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding|2/3|c.210+2567T>G|||||| 22 39421592 . G A . . ANN=A|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding|4/7|c.521G>A|p.Cys174Tyr|928/2528|521/1161|174/386||,A|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|4/7|c.521G>A|p.Cys174Tyr|521/1161|521/1161|174/386||,A|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding|2/3|c.210+2573G>A|||||| 22 39421595 . A G . . ANN=G|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding|4/7|c.524A>G|p.Asn175Ser|931/2528|524/1161|175/386||,G|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|4/7|c.524A>G|p.Asn175Ser|524/1161|524/1161|175/386||,G|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding|2/3|c.210+2576A>G|||||| 22 39421607 . C A . . ANN=A|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding|4/7|c.536C>A|p.Pro179Gln|943/2528|536/1161|179/386||,A|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|4/7|c.536C>A|p.Pro179Gln|536/1161|536/1161|179/386||,A|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding|2/3|c.210+2588C>A|||||| 22 39421612 . A G . . ANN=G|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding|4/7|c.541A>G|p.Met181Val|948/2528|541/1161|181/386||,G|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|4/7|c.541A>G|p.Met181Val|541/1161|541/1161|181/386||,G|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding|2/3|c.210+2593A>G|||||| 22 39421622 . A G . . ANN=G|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding|4/7|c.551A>G|p.Tyr184Cys|958/2528|551/1161|184/386||,G|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|4/7|c.551A>G|p.Tyr184Cys|551/1161|551/1161|184/386||,G|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding|2/3|c.210+2603A>G|||||| 22 39421701 . C T . . ANN=T|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding|4/6|c.605+25C>T||||||,T|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|4/6|c.605+25C>T||||||,T|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding|2/3|c.210+2682C>T|||||| 22 39421706 . C G . . ANN=G|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding|4/6|c.605+30C>G||||||,G|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|4/6|c.605+30C>G||||||,G|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding|2/3|c.210+2687C>G|||||| 22 39421715 . C T . . ANN=T|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding|4/6|c.605+39C>T||||||,T|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|4/6|c.605+39C>T||||||,T|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding|2/3|c.210+2696C>T|||||| 22 39425328 . G A . . ANN=A|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding|4/6|c.606-40G>A||||||,A|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|4/6|c.606-40G>A||||||,A|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding|2/3|c.211-2371G>A|||||| 22 39425438 . C A . . ANN=A|synonymous_variant|LOW|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding|5/7|c.676C>A|p.Arg226Arg|1083/2528|676/1161|226/386||,A|synonymous_variant|LOW|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|5/7|c.676C>A|p.Arg226Arg|676/1161|676/1161|226/386||,A|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding|2/3|c.211-2261C>A|||||| 22 39425443 . C A . . ANN=A|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding|5/7|c.681C>A|p.Asn227Lys|1088/2528|681/1161|227/386||,A|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|5/7|c.681C>A|p.Asn227Lys|681/1161|681/1161|227/386||,A|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding|2/3|c.211-2256C>A|||||| 22 39425474 . A G . . ANN=G|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding|5/7|c.712A>G|p.Thr238Ala|1119/2528|712/1161|238/386||,G|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|5/7|c.712A>G|p.Thr238Ala|712/1161|712/1161|238/386||,G|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding|2/3|c.211-2225A>G|||||| 22 39425505 . G A . . ANN=A|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding|5/7|c.743G>A|p.Arg248Lys|1150/2528|743/1161|248/386||,A|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|5/7|c.743G>A|p.Arg248Lys|743/1161|743/1161|248/386||,A|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding|2/3|c.211-2194G>A|||||| 22 39425510 . G C . . ANN=C|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding|5/7|c.748G>C|p.Val250Leu|1155/2528|748/1161|250/386||,C|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|5/7|c.748G>C|p.Val250Leu|748/1161|748/1161|250/386||,C|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding|2/3|c.211-2189G>C|||||| 22 39428289 . C A . . ANN=A|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding|7/7|c.1129C>A|p.Leu377Met|1536/2528|1129/1161|377/386||,A|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|7/7|c.1129C>A|p.Leu377Met|1129/1161|1129/1161|377/386||,A|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding|4/4|c.577C>A|p.Leu193Met|645/728|577/609|193/202|| 22 39428305 . G A . . ANN=A|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding|7/7|c.1145G>A|p.Arg382Gln|1552/2528|1145/1161|382/386||,A|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|7/7|c.1145G>A|p.Arg382Gln|1145/1161|1145/1161|382/386||,A|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding|4/4|c.593G>A|p.Arg198Gln|661/728|593/609|198/202|| 22 39428331 . C A . . ANN=A|3_prime_UTR_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding|7/7|c.*10C>A|||||10|,A|3_prime_UTR_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding|4/4|c.*10C>A|||||10|,A|downstream_gene_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding||c.*1161C>A|||||10| 22 39440149 . C T . . ANN=T|missense_variant|MODERATE|APOBEC3F|ENSG00000128394|transcript|ENST00000381565|protein_coding|3/3|c.233C>T|p.Ala78Val|337/616|233/306|78/101||,T|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|2/8|c.17+3167C>T||||||,T|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|3/8|c.17+3167C>T||||||,T|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|1/8|c.17+3167C>T||||||,T|upstream_gene_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000476513|retained_intron||n.-1C>T|||||1040|,T|intron_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000308521|protein_coding|2/6|c.172-797C>T||||||,T|intron_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000491387|processed_transcript|2/2|n.319-797C>T||||||,T|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|1/7|c.17+3167C>T|||||| 22 39440176 . A T . . ANN=T|missense_variant|MODERATE|APOBEC3F|ENSG00000128394|transcript|ENST00000381565|protein_coding|3/3|c.260A>T|p.Gln87Leu|364/616|260/306|87/101||,T|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|2/8|c.17+3194A>T||||||,T|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|3/8|c.17+3194A>T||||||,T|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|1/8|c.17+3194A>T||||||,T|upstream_gene_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000476513|retained_intron||n.-1A>T|||||1013|,T|intron_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000308521|protein_coding|2/6|c.172-770A>T||||||,T|intron_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000491387|processed_transcript|2/2|n.319-770A>T||||||,T|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|1/7|c.17+3194A>T|||||| 22 39440199 . G T . . ANN=T|missense_variant|MODERATE|APOBEC3F|ENSG00000128394|transcript|ENST00000381565|protein_coding|3/3|c.283G>T|p.Gly95Cys|387/616|283/306|95/101||,T|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|2/8|c.17+3217G>T||||||,T|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|3/8|c.17+3217G>T||||||,T|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|1/8|c.17+3217G>T||||||,T|upstream_gene_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000476513|retained_intron||n.-1G>T|||||990|,T|intron_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000308521|protein_coding|2/6|c.172-747G>T||||||,T|intron_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000491387|processed_transcript|2/2|n.319-747G>T||||||,T|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|1/7|c.17+3217G>T|||||| 22 39440236 . A C . . ANN=C|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|2/8|c.17+3254A>C||||||,C|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|3/8|c.17+3254A>C||||||,C|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|1/8|c.17+3254A>C||||||,C|3_prime_UTR_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000381565|protein_coding|3/3|c.*14A>C|||||14|,C|upstream_gene_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000476513|retained_intron||n.-1A>C|||||953|,C|intron_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000308521|protein_coding|2/6|c.172-710A>C||||||,C|intron_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000491387|processed_transcript|2/2|n.319-710A>C||||||,C|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|1/7|c.17+3254A>C|||||| 22 39440271 . G A . . ANN=A|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|2/8|c.17+3289G>A||||||,A|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|3/8|c.17+3289G>A||||||,A|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|1/8|c.17+3289G>A||||||,A|3_prime_UTR_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000381565|protein_coding|3/3|c.*49G>A|||||49|,A|upstream_gene_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000476513|retained_intron||n.-1G>A|||||918|,A|intron_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000308521|protein_coding|2/6|c.172-675G>A||||||,A|intron_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000491387|processed_transcript|2/2|n.319-675G>A||||||,A|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|1/7|c.17+3289G>A|||||| 22 39441203 . C T . . ANN=T|synonymous_variant|LOW|APOBEC3F|ENSG00000128394|transcript|ENST00000308521|protein_coding|3/7|c.429C>T|p.Arg143Arg|786/2694|429/1122|143/373||,T|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|2/8|c.17+4221C>T||||||,T|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|3/8|c.17+4221C>T||||||,T|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|1/8|c.17+4221C>T||||||,T|downstream_gene_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000491387|processed_transcript||n.*570C>T|||||6|,T|downstream_gene_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000381565|protein_coding||c.*410C>T|||||775|,T|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|1/7|c.17+4221C>T||||||,T|non_coding_exon_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000476513|retained_intron|1/3|n.15C>T|||||| 22 39441243 . CAG C . . ANN=|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|2/8|c.17+4262_17+4263delAG||||||,|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|3/8|c.17+4262_17+4263delAG||||||,|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|1/8|c.17+4262_17+4263delAG||||||,|downstream_gene_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000491387|processed_transcript||n.*570_*570delAG|||||47|,|downstream_gene_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000381565|protein_coding||c.*410_*410delAG|||||816|,|intron_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000308521|protein_coding|3/6|c.451+19_451+20delAG||||||,|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|1/7|c.17+4262_17+4263delAG||||||,|non_coding_exon_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000476513|retained_intron|1/3|n.56_57delAG|||||| 22 39441383 . G C . . ANN=C|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|2/8|c.17+4401G>C||||||,C|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|3/8|c.17+4401G>C||||||,C|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|1/8|c.17+4401G>C||||||,C|downstream_gene_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000491387|processed_transcript||n.*570G>C|||||186|,C|downstream_gene_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000381565|protein_coding||c.*410G>C|||||955|,C|intron_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000308521|protein_coding|3/6|c.452-50G>C||||||,C|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|1/7|c.17+4401G>C||||||,C|non_coding_exon_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000476513|retained_intron|1/3|n.195G>C|||||| 22 39441399 . C G . . ANN=G|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|2/8|c.17+4417C>G||||||,G|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|3/8|c.17+4417C>G||||||,G|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|1/8|c.17+4417C>G||||||,G|downstream_gene_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000491387|processed_transcript||n.*570C>G|||||202|,G|downstream_gene_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000381565|protein_coding||c.*410C>G|||||971|,G|intron_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000308521|protein_coding|3/6|c.452-34C>G||||||,G|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|1/7|c.17+4417C>G||||||,G|non_coding_exon_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000476513|retained_intron|1/3|n.211C>G|||||| 22 39441449 . G T . . ANN=T|missense_variant|MODERATE|APOBEC3F|ENSG00000128394|transcript|ENST00000308521|protein_coding|4/7|c.468G>T|p.Trp156Cys|825/2694|468/1122|156/373||,T|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|2/8|c.17+4467G>T||||||,T|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|3/8|c.17+4467G>T||||||,T|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|1/8|c.17+4467G>T||||||,T|downstream_gene_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000491387|processed_transcript||n.*570G>T|||||252|,T|downstream_gene_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000381565|protein_coding||c.*410G>T|||||1021|,T|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|1/7|c.17+4467G>T||||||,T|non_coding_exon_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000476513|retained_intron|1/3|n.261G>T|||||| 22 39441451 . A G . . ANN=G|missense_variant|MODERATE|APOBEC3F|ENSG00000128394|transcript|ENST00000308521|protein_coding|4/7|c.470A>G|p.Glu157Gly|827/2694|470/1122|157/373||,G|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|2/8|c.17+4469A>G||||||,G|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|3/8|c.17+4469A>G||||||,G|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|1/8|c.17+4469A>G||||||,G|downstream_gene_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000491387|processed_transcript||n.*570A>G|||||254|,G|downstream_gene_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000381565|protein_coding||c.*410A>G|||||1023|,G|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|1/7|c.17+4469A>G||||||,G|non_coding_exon_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000476513|retained_intron|1/3|n.263A>G|||||| 22 39441478 . C A . . ANN=A|missense_variant|MODERATE|APOBEC3F|ENSG00000128394|transcript|ENST00000308521|protein_coding|4/7|c.497C>A|p.Pro166Gln|854/2694|497/1122|166/373||,A|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|2/8|c.17+4496C>A||||||,A|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|3/8|c.17+4496C>A||||||,A|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|1/8|c.17+4496C>A||||||,A|downstream_gene_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000491387|processed_transcript||n.*570C>A|||||281|,A|downstream_gene_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000381565|protein_coding||c.*410C>A|||||1050|,A|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|1/7|c.17+4496C>A||||||,A|non_coding_exon_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000476513|retained_intron|1/3|n.290C>A|||||| 22 39441570 . A G . . ANN=G|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|2/8|c.17+4588A>G||||||,G|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|3/8|c.17+4588A>G||||||,G|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|1/8|c.17+4588A>G||||||,G|downstream_gene_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000491387|processed_transcript||n.*570A>G|||||373|,G|downstream_gene_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000381565|protein_coding||c.*410A>G|||||1142|,G|intron_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000308521|protein_coding|4/6|c.566+23A>G||||||,G|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|1/7|c.17+4588A>G||||||,G|intron_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000476513|retained_intron|1/2|n.359+23A>G|||||| 22 39445380 . G A . . ANN=A|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|2/8|c.17+8398G>A||||||,A|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|3/8|c.17+8398G>A||||||,A|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|1/8|c.17+8398G>A||||||,A|downstream_gene_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000491387|processed_transcript||n.*570G>A|||||4183|,A|downstream_gene_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000381565|protein_coding||c.*410G>A|||||4952|,A|intron_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000308521|protein_coding|4/6|c.567-50G>A||||||,A|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|1/7|c.17+8398G>A||||||,A|intron_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000476513|retained_intron|1/2|n.360-50G>A|||||| 22 39445421 . T C . . ANN=C|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|2/8|c.17+8439T>C||||||,C|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|3/8|c.17+8439T>C||||||,C|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|1/8|c.17+8439T>C||||||,C|downstream_gene_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000491387|processed_transcript||n.*570T>C|||||4224|,C|downstream_gene_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000381565|protein_coding||c.*410T>C|||||4993|,C|intron_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000308521|protein_coding|4/6|c.567-9T>C||||||,C|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|1/7|c.17+8439T>C||||||,C|intron_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000476513|retained_intron|1/2|n.360-9T>C|||||| 22 39445436 . G A . . ANN=A|synonymous_variant|LOW|APOBEC3F|ENSG00000128394|transcript|ENST00000308521|protein_coding|5/7|c.573G>A|p.Pro191Pro|930/2694|573/1122|191/373||,A|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|2/8|c.17+8454G>A||||||,A|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|3/8|c.17+8454G>A||||||,A|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|1/8|c.17+8454G>A||||||,A|downstream_gene_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000491387|processed_transcript||n.*570G>A|||||4239|,A|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|1/7|c.17+8454G>A||||||,A|non_coding_exon_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000476513|retained_intron|2/3|n.366G>A|||||| 22 39445449 . T A . . ANN=A|missense_variant|MODERATE|APOBEC3F|ENSG00000128394|transcript|ENST00000308521|protein_coding|5/7|c.586T>A|p.Tyr196Asn|943/2694|586/1122|196/373||,A|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|2/8|c.17+8467T>A||||||,A|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|3/8|c.17+8467T>A||||||,A|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|1/8|c.17+8467T>A||||||,A|downstream_gene_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000491387|processed_transcript||n.*570T>A|||||4252|,A|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|1/7|c.17+8467T>A||||||,A|non_coding_exon_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000476513|retained_intron|2/3|n.379T>A|||||| 22 39445554 . G A . . ANN=A|missense_variant|MODERATE|APOBEC3F|ENSG00000128394|transcript|ENST00000308521|protein_coding|5/7|c.691G>A|p.Val231Ile|1048/2694|691/1122|231/373||,A|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|2/8|c.17+8572G>A||||||,A|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|3/8|c.17+8572G>A||||||,A|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|1/8|c.17+8572G>A||||||,A|downstream_gene_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000491387|processed_transcript||n.*570G>A|||||4357|,A|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|1/7|c.17+8572G>A||||||,A|non_coding_exon_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000476513|retained_intron|2/3|n.484G>A|||||| 22 39445556 . C T . . ANN=T|synonymous_variant|LOW|APOBEC3F|ENSG00000128394|transcript|ENST00000308521|protein_coding|5/7|c.693C>T|p.Val231Val|1050/2694|693/1122|231/373||,T|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|2/8|c.17+8574C>T||||||,T|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|3/8|c.17+8574C>T||||||,T|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|1/8|c.17+8574C>T||||||,T|downstream_gene_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000491387|processed_transcript||n.*570C>T|||||4359|,T|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|1/7|c.17+8574C>T||||||,T|non_coding_exon_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000476513|retained_intron|2/3|n.486C>T|||||| 22 39448336 . C T . . ANN=T|synonymous_variant|LOW|APOBEC3F|ENSG00000128394|transcript|ENST00000308521|protein_coding|6/7|c.981C>T|p.Ser327Ser|1338/2694|981/1122|327/373||,T|sequence_feature|LOW|APOBEC3F|ENSG00000128394|beta_strand|ENST00000308521|protein_coding|6/7|c.981C>T||||||,T|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|2/8|c.17+11354C>T||||||,T|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|3/8|c.17+11354C>T||||||,T|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|1/8|c.17+11354C>T||||||,T|downstream_gene_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000476513|retained_intron||n.*730C>T|||||44|,T|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|1/7|c.17+11354C>T|||||| 22 39448615 . A G . . ANN=G|missense_variant|MODERATE|APOBEC3F|ENSG00000128394|transcript|ENST00000308521|protein_coding|7/7|c.1037A>G|p.Asn346Ser|1394/2694|1037/1122|346/373||,G|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|2/8|c.17+11633A>G||||||,G|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|3/8|c.17+11633A>G||||||,G|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|1/8|c.17+11633A>G||||||,G|downstream_gene_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000476513|retained_intron||n.*730A>G|||||323|,G|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|1/7|c.17+11633A>G|||||| 22 39448695 . G A . . ANN=A|missense_variant|MODERATE|APOBEC3F|ENSG00000128394|transcript|ENST00000308521|protein_coding|7/7|c.1117G>A|p.Glu373Lys|1474/2694|1117/1122|373/373||,A|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|2/8|c.17+11713G>A||||||,A|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|3/8|c.17+11713G>A||||||,A|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|1/8|c.17+11713G>A||||||,A|downstream_gene_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000476513|retained_intron||n.*730G>A|||||403|,A|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|1/7|c.17+11713G>A|||||| 22 39448711 . C A . . ANN=A|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|2/8|c.17+11729C>A||||||,A|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|3/8|c.17+11729C>A||||||,A|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|1/8|c.17+11729C>A||||||,A|3_prime_UTR_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000308521|protein_coding|7/7|c.*11C>A|||||11|,A|downstream_gene_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000476513|retained_intron||n.*730C>A|||||419|,A|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|1/7|c.17+11729C>A|||||| 22 39448750 . T C . . ANN=C|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|2/8|c.17+11768T>C||||||,C|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|3/8|c.17+11768T>C||||||,C|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|1/8|c.17+11768T>C||||||,C|3_prime_UTR_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000308521|protein_coding|7/7|c.*50T>C|||||50|,C|downstream_gene_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000476513|retained_intron||n.*730T>C|||||458|,C|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|1/7|c.17+11768T>C|||||| 22 39476946 . C T . . ANN=T|synonymous_variant|LOW|APOBEC3G|ENSG00000239713|transcript|ENST00000407997|protein_coding|3/8|c.180C>T|p.Ser60Ser|537/1834|180/1155|60/384||,T|synonymous_variant|LOW|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|3/8|c.180C>T|p.Ser60Ser|222/1506|180/1155|60/384||,T|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|2/8|c.180C>T||||||,T|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|3/8|c.180C>T||||||,T|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|1/8|c.180C>T||||||,T|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000463934|retained_intron||n.*1081C>T|||||1241|,T|non_coding_exon_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000480000|retained_intron|2/3|n.309C>T||||||,T|non_coding_exon_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000461827|processed_transcript|3/5|n.248C>T||||||,T|non_coding_exon_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000486357|processed_transcript|3/3|n.290C>T||||||,T|non_coding_exon_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000494150|retained_intron|1/2|n.1280C>T||||||,T|non_coding_exon_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000481958|retained_intron|1/2|n.307C>T|||||| 22 39476982 . C T . . ANN=T|synonymous_variant|LOW|APOBEC3G|ENSG00000239713|transcript|ENST00000407997|protein_coding|3/8|c.216C>T|p.His72His|573/1834|216/1155|72/384||,T|synonymous_variant|LOW|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|3/8|c.216C>T|p.His72His|258/1506|216/1155|72/384||,T|sequence_feature|LOW|APOBEC3G|ENSG00000239713|domain:CMP/dCMP_deaminase_zinc-binding_1|ENST00000452957|protein_coding|3/8|c.216C>T||||||,T|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000463934|retained_intron||n.*1081C>T|||||1277|,T|non_coding_exon_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000480000|retained_intron|2/3|n.345C>T||||||,T|non_coding_exon_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000461827|processed_transcript|3/5|n.284C>T||||||,T|non_coding_exon_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000486357|processed_transcript|3/3|n.326C>T||||||,T|non_coding_exon_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000494150|retained_intron|1/2|n.1316C>T||||||,T|non_coding_exon_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000481958|retained_intron|1/2|n.343C>T|||||| 22 39477120 . C T . . ANN=T|synonymous_variant|LOW|APOBEC3G|ENSG00000239713|transcript|ENST00000407997|protein_coding|3/8|c.354C>T|p.Ile118Ile|711/1834|354/1155|118/384||,T|synonymous_variant|LOW|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|3/8|c.354C>T|p.Ile118Ile|396/1506|354/1155|118/384||,T|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000463934|retained_intron||n.*1081C>T|||||1415|,T|non_coding_exon_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000480000|retained_intron|2/3|n.483C>T||||||,T|non_coding_exon_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000461827|processed_transcript|3/5|n.422C>T||||||,T|non_coding_exon_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000486357|processed_transcript|3/3|n.464C>T||||||,T|non_coding_exon_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000494150|retained_intron|1/2|n.1454C>T||||||,T|non_coding_exon_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000481958|retained_intron|1/2|n.481C>T|||||| 22 39477123 . T C . . ANN=C|synonymous_variant|LOW|APOBEC3G|ENSG00000239713|transcript|ENST00000407997|protein_coding|3/8|c.357T>C|p.Phe119Phe|714/1834|357/1155|119/384||,C|synonymous_variant|LOW|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|3/8|c.357T>C|p.Phe119Phe|399/1506|357/1155|119/384||,C|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000463934|retained_intron||n.*1081T>C|||||1418|,C|non_coding_exon_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000480000|retained_intron|2/3|n.486T>C||||||,C|non_coding_exon_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000461827|processed_transcript|3/5|n.425T>C||||||,C|non_coding_exon_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000486357|processed_transcript|3/3|n.467T>C||||||,C|non_coding_exon_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000494150|retained_intron|1/2|n.1457T>C||||||,C|non_coding_exon_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000481958|retained_intron|1/2|n.484T>C|||||| 22 39477173 . G A . . ANN=A|missense_variant|MODERATE|APOBEC3G|ENSG00000239713|transcript|ENST00000407997|protein_coding|3/8|c.407G>A|p.Arg136His|764/1834|407/1155|136/384||,A|missense_variant|MODERATE|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|3/8|c.407G>A|p.Arg136His|449/1506|407/1155|136/384||,A|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000463934|retained_intron||n.*1081G>A|||||1468|,A|non_coding_exon_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000480000|retained_intron|2/3|n.536G>A||||||,A|non_coding_exon_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000461827|processed_transcript|3/5|n.475G>A||||||,A|non_coding_exon_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000486357|processed_transcript|3/3|n.517G>A||||||,A|non_coding_exon_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000494150|retained_intron|1/2|n.1507G>A||||||,A|non_coding_exon_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000481958|retained_intron|1/2|n.534G>A|||||| 22 39477252 . G A . . ANN=A|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000463934|retained_intron||n.*1081G>A|||||1547|,A|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000486357|processed_transcript||n.*543G>A|||||53|,A|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000407997|protein_coding|3/7|c.466+20G>A||||||,A|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|3/7|c.466+20G>A||||||,A|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000480000|retained_intron|2/2|n.595+20G>A||||||,A|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000461827|processed_transcript|3/4|n.534+20G>A||||||,A|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000494150|retained_intron|1/1|n.1566+20G>A||||||,A|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000481958|retained_intron|1/1|n.593+20G>A|||||| 22 39477438 . C G . . ANN=G|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000463934|retained_intron||n.*1081C>G|||||1733|,G|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000486357|processed_transcript||n.*543C>G|||||239|,G|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000407997|protein_coding|3/7|c.467-38C>G||||||,G|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|3/7|c.467-38C>G||||||,G|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000480000|retained_intron|2/2|n.596-38C>G||||||,G|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000461827|processed_transcript|3/4|n.535-38C>G||||||,G|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000494150|retained_intron|1/1|n.1567-38C>G||||||,G|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000481958|retained_intron|1/1|n.594-38C>G|||||| 22 39477455 . G T . . ANN=T|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000463934|retained_intron||n.*1081G>T|||||1750|,T|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000486357|processed_transcript||n.*543G>T|||||256|,T|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000407997|protein_coding|3/7|c.467-21G>T||||||,T|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|3/7|c.467-21G>T||||||,T|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000480000|retained_intron|2/2|n.596-21G>T||||||,T|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000461827|processed_transcript|3/4|n.535-21G>T||||||,T|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000494150|retained_intron|1/1|n.1567-21G>T||||||,T|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000481958|retained_intron|1/1|n.594-21G>T|||||| 22 39477566 . A G . . ANN=G|missense_variant|MODERATE|APOBEC3G|ENSG00000239713|transcript|ENST00000407997|protein_coding|4/8|c.557A>G|p.His186Arg|914/1834|557/1155|186/384||,G|missense_variant|MODERATE|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|4/8|c.557A>G|p.His186Arg|599/1506|557/1155|186/384||,G|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000463934|retained_intron||n.*1081A>G|||||1861|,G|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000486357|processed_transcript||n.*543A>G|||||367|,G|non_coding_exon_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000480000|retained_intron|3/3|n.686A>G||||||,G|non_coding_exon_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000461827|processed_transcript|4/5|n.625A>G||||||,G|non_coding_exon_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000494150|retained_intron|2/2|n.1657A>G||||||,G|non_coding_exon_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000481958|retained_intron|2/2|n.684A>G|||||| 22 39477616 . G T . . ANN=T|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000463934|retained_intron||n.*1081G>T|||||1911|,T|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000486357|processed_transcript||n.*543G>T|||||417|,T|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000407997|protein_coding|4/7|c.581+26G>T||||||,T|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|4/7|c.581+26G>T||||||,T|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000461827|processed_transcript|4/4|n.649+26G>T||||||,T|non_coding_exon_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000480000|retained_intron|3/3|n.736G>T||||||,T|non_coding_exon_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000494150|retained_intron|2/2|n.1707G>T||||||,T|non_coding_exon_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000481958|retained_intron|2/2|n.734G>T|||||| 22 39479729 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|APOBEC3G|ENSG00000239713|transcript|ENST00000407997|protein_coding|4/7|c.582-7T>C||||||,C|splice_region_variant&intron_variant|LOW|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|4/7|c.582-7T>C||||||,C|splice_region_variant&intron_variant|LOW|APOBEC3G|ENSG00000239713|transcript|ENST00000461827|processed_transcript|4/4|n.650-7T>C||||||,C|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000463934|retained_intron||n.*1081T>C|||||4024|,C|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000480000|retained_intron||n.*812T>C|||||2037|,C|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000486357|processed_transcript||n.*543T>C|||||2530|,C|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000494150|retained_intron||n.*2775T>C|||||1045|,C|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000481958|retained_intron||n.*2337T>C|||||510| 22 39479742 . G A . . ANN=A|synonymous_variant|LOW|APOBEC3G|ENSG00000239713|transcript|ENST00000407997|protein_coding|5/8|c.588G>A|p.Ser196Ser|945/1834|588/1155|196/384||,A|synonymous_variant|LOW|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|5/8|c.588G>A|p.Ser196Ser|630/1506|588/1155|196/384||,A|sequence_feature|LOW|APOBEC3G|ENSG00000239713|beta_strand|ENST00000452957|protein_coding|5/8|c.588G>A||||||,A|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000463934|retained_intron||n.*1081G>A|||||4037|,A|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000480000|retained_intron||n.*812G>A|||||2050|,A|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000486357|processed_transcript||n.*543G>A|||||2543|,A|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000494150|retained_intron||n.*2775G>A|||||1058|,A|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000481958|retained_intron||n.*2337G>A|||||523|,A|non_coding_exon_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000461827|processed_transcript|5/5|n.656G>A|||||| 22 39482267 . C T . . ANN=T|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Necessary_for_homooligomerization|ENST00000452957|protein_coding|5/8|c.736-17C>T||||||,T|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Necessary_for_homooligomerization|ENST00000452957|protein_coding|6/8|c.736-17C>T||||||,T|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000480000|retained_intron||n.*812C>T|||||4575|,T|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000461827|processed_transcript||n.*803C>T|||||2378|,T|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000494150|retained_intron||n.*2775C>T|||||3583|,T|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000481958|retained_intron||n.*2337C>T|||||3048|,T|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000407997|protein_coding|5/7|c.736-17C>T||||||,T|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|5/7|c.736-17C>T|||||| 22 39482314 . C T . . ANN=T|missense_variant|MODERATE|APOBEC3G|ENSG00000239713|transcript|ENST00000407997|protein_coding|6/8|c.766C>T|p.Arg256Cys|1123/1834|766/1155|256/384||,T|missense_variant|MODERATE|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|6/8|c.766C>T|p.Arg256Cys|808/1506|766/1155|256/384||,T|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Necessary_for_homooligomerization|ENST00000452957|protein_coding|5/8|c.766C>T||||||,T|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Necessary_for_homooligomerization|ENST00000452957|protein_coding|6/8|c.766C>T||||||,T|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000480000|retained_intron||n.*812C>T|||||4622|,T|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000461827|processed_transcript||n.*803C>T|||||2425|,T|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000494150|retained_intron||n.*2775C>T|||||3630|,T|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000481958|retained_intron||n.*2337C>T|||||3095| 22 39482315 . G A . . ANN=A|missense_variant|MODERATE|APOBEC3G|ENSG00000239713|transcript|ENST00000407997|protein_coding|6/8|c.767G>A|p.Arg256His|1124/1834|767/1155|256/384||,A|missense_variant|MODERATE|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|6/8|c.767G>A|p.Arg256His|809/1506|767/1155|256/384||,A|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Necessary_for_homooligomerization|ENST00000452957|protein_coding|5/8|c.767G>A||||||,A|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Necessary_for_homooligomerization|ENST00000452957|protein_coding|6/8|c.767G>A||||||,A|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000480000|retained_intron||n.*812G>A|||||4623|,A|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000461827|processed_transcript||n.*803G>A|||||2426|,A|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000494150|retained_intron||n.*2775G>A|||||3631|,A|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000481958|retained_intron||n.*2337G>A|||||3096| 22 39482359 . C G . . ANN=G|missense_variant|MODERATE|APOBEC3G|ENSG00000239713|transcript|ENST00000407997|protein_coding|6/8|c.811C>G|p.Leu271Val|1168/1834|811/1155|271/384||,G|missense_variant|MODERATE|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|6/8|c.811C>G|p.Leu271Val|853/1506|811/1155|271/384||,G|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Necessary_for_homooligomerization|ENST00000452957|protein_coding|5/8|c.811C>G||||||,G|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Necessary_for_homooligomerization|ENST00000452957|protein_coding|6/8|c.811C>G||||||,G|sequence_feature|LOW|APOBEC3G|ENSG00000239713|domain:CMP/dCMP_deaminase_zinc-binding_2|ENST00000452957|protein_coding|6/8|c.811C>G||||||,G|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000480000|retained_intron||n.*812C>G|||||4667|,G|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000461827|processed_transcript||n.*803C>G|||||2470|,G|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000494150|retained_intron||n.*2775C>G|||||3675|,G|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000481958|retained_intron||n.*2337C>G|||||3140| 22 39482371 . C G . . ANN=G|missense_variant|MODERATE|APOBEC3G|ENSG00000239713|transcript|ENST00000407997|protein_coding|6/8|c.823C>G|p.Gln275Glu|1180/1834|823/1155|275/384||,G|missense_variant|MODERATE|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|6/8|c.823C>G|p.Gln275Glu|865/1506|823/1155|275/384||,G|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Necessary_for_homooligomerization|ENST00000452957|protein_coding|5/8|c.823C>G||||||,G|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Necessary_for_homooligomerization|ENST00000452957|protein_coding|6/8|c.823C>G||||||,G|sequence_feature|LOW|APOBEC3G|ENSG00000239713|domain:CMP/dCMP_deaminase_zinc-binding_2|ENST00000452957|protein_coding|6/8|c.823C>G||||||,G|sequence_feature|LOW|APOBEC3G|ENSG00000239713|beta_strand|ENST00000452957|protein_coding|6/8|c.823C>G||||||,G|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000480000|retained_intron||n.*812C>G|||||4679|,G|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000461827|processed_transcript||n.*803C>G|||||2482|,G|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000494150|retained_intron||n.*2775C>G|||||3687|,G|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000481958|retained_intron||n.*2337C>G|||||3152| 22 39482461 . G A . . ANN=A|missense_variant|MODERATE|APOBEC3G|ENSG00000239713|transcript|ENST00000407997|protein_coding|6/8|c.913G>A|p.Val305Met|1270/1834|913/1155|305/384||,A|missense_variant|MODERATE|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|6/8|c.913G>A|p.Val305Met|955/1506|913/1155|305/384||,A|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Necessary_for_homooligomerization|ENST00000452957|protein_coding|5/8|c.913G>A||||||,A|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Necessary_for_homooligomerization|ENST00000452957|protein_coding|6/8|c.913G>A||||||,A|sequence_feature|LOW|APOBEC3G|ENSG00000239713|beta_strand|ENST00000452957|protein_coding|6/8|c.913G>A||||||,A|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000480000|retained_intron||n.*812G>A|||||4769|,A|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000461827|processed_transcript||n.*803G>A|||||2572|,A|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000494150|retained_intron||n.*2775G>A|||||3777|,A|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000481958|retained_intron||n.*2337G>A|||||3242| 22 39482536 . G A . . ANN=A|missense_variant|MODERATE|APOBEC3G|ENSG00000239713|transcript|ENST00000407997|protein_coding|6/8|c.988G>A|p.Glu330Lys|1345/1834|988/1155|330/384||,A|missense_variant|MODERATE|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|6/8|c.988G>A|p.Glu330Lys|1030/1506|988/1155|330/384||,A|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Necessary_for_homooligomerization|ENST00000452957|protein_coding|5/8|c.988G>A||||||,A|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Necessary_for_homooligomerization|ENST00000452957|protein_coding|6/8|c.988G>A||||||,A|sequence_feature|LOW|APOBEC3G|ENSG00000239713|helix|ENST00000452957|protein_coding|6/8|c.988G>A||||||,A|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000480000|retained_intron||n.*812G>A|||||4844|,A|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000461827|processed_transcript||n.*803G>A|||||2647|,A|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000494150|retained_intron||n.*2775G>A|||||3852|,A|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000481958|retained_intron||n.*2337G>A|||||3317| 22 39482595 . G A . . ANN=A|sequence_feature|LOW|APOBEC3G|ENSG00000239713|helix|ENST00000452957|protein_coding|6/8|c.1024+23G>A||||||,A|sequence_feature|LOW|APOBEC3G|ENSG00000239713|helix|ENST00000452957|protein_coding|7/8|c.1024+23G>A||||||,A|upstream_gene_variant|MODIFIER|RP4-742C19.12|ENSG00000225720|transcript|ENST00000560933|transcribed_unprocessed_pseudogene||n.-1G>A|||||4996|,A|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000480000|retained_intron||n.*812G>A|||||4903|,A|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000461827|processed_transcript||n.*803G>A|||||2706|,A|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000494150|retained_intron||n.*2775G>A|||||3911|,A|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000481958|retained_intron||n.*2337G>A|||||3376|,A|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000407997|protein_coding|6/7|c.1024+23G>A||||||,A|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|6/7|c.1024+23G>A|||||| 22 39482970 . C G,T . . ANN=G|sequence_feature|LOW|APOBEC3G|ENSG00000239713|helix|ENST00000452957|protein_coding|6/8|c.1025-46C>G||||||,G|sequence_feature|LOW|APOBEC3G|ENSG00000239713|helix|ENST00000452957|protein_coding|7/8|c.1025-46C>G||||||,T|sequence_feature|LOW|APOBEC3G|ENSG00000239713|helix|ENST00000452957|protein_coding|6/8|c.1025-46C>T||||||,T|sequence_feature|LOW|APOBEC3G|ENSG00000239713|helix|ENST00000452957|protein_coding|7/8|c.1025-46C>T||||||,G|upstream_gene_variant|MODIFIER|RP4-742C19.12|ENSG00000225720|transcript|ENST00000424436|processed_transcript||n.-1C>G|||||4669|,T|upstream_gene_variant|MODIFIER|RP4-742C19.12|ENSG00000225720|transcript|ENST00000424436|processed_transcript||n.-1C>T|||||4669|,G|upstream_gene_variant|MODIFIER|RP4-742C19.12|ENSG00000225720|transcript|ENST00000560933|transcribed_unprocessed_pseudogene||n.-1C>G|||||4621|,T|upstream_gene_variant|MODIFIER|RP4-742C19.12|ENSG00000225720|transcript|ENST00000560933|transcribed_unprocessed_pseudogene||n.-1C>T|||||4621|,G|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000461827|processed_transcript||n.*803C>G|||||3081|,T|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000461827|processed_transcript||n.*803C>T|||||3081|,G|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000494150|retained_intron||n.*2775C>G|||||4286|,T|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000494150|retained_intron||n.*2775C>T|||||4286|,G|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000481958|retained_intron||n.*2337C>G|||||3751|,T|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000481958|retained_intron||n.*2337C>T|||||3751|,G|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000407997|protein_coding|6/7|c.1025-46C>G||||||,T|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000407997|protein_coding|6/7|c.1025-46C>T||||||,G|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|6/7|c.1025-46C>G||||||,T|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|6/7|c.1025-46C>T|||||| 22 39482982 . G A . . ANN=A|sequence_feature|LOW|APOBEC3G|ENSG00000239713|helix|ENST00000452957|protein_coding|6/8|c.1025-34G>A||||||,A|sequence_feature|LOW|APOBEC3G|ENSG00000239713|helix|ENST00000452957|protein_coding|7/8|c.1025-34G>A||||||,A|upstream_gene_variant|MODIFIER|RP4-742C19.12|ENSG00000225720|transcript|ENST00000424436|processed_transcript||n.-1G>A|||||4657|,A|upstream_gene_variant|MODIFIER|RP4-742C19.12|ENSG00000225720|transcript|ENST00000560933|transcribed_unprocessed_pseudogene||n.-1G>A|||||4609|,A|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000461827|processed_transcript||n.*803G>A|||||3093|,A|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000494150|retained_intron||n.*2775G>A|||||4298|,A|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000481958|retained_intron||n.*2337G>A|||||3763|,A|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000407997|protein_coding|6/7|c.1025-34G>A||||||,A|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|6/7|c.1025-34G>A|||||| 22 39483102 . C T . . ANN=T|synonymous_variant|LOW|APOBEC3G|ENSG00000239713|transcript|ENST00000407997|protein_coding|7/8|c.1111C>T|p.Leu371Leu|1468/1834|1111/1155|371/384||,T|synonymous_variant|LOW|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|7/8|c.1111C>T|p.Leu371Leu|1153/1506|1111/1155|371/384||,T|sequence_feature|LOW|APOBEC3G|ENSG00000239713|helix|ENST00000452957|protein_coding|7/8|c.1111C>T||||||,T|upstream_gene_variant|MODIFIER|RP4-742C19.12|ENSG00000225720|transcript|ENST00000424436|processed_transcript||n.-1C>T|||||4537|,T|upstream_gene_variant|MODIFIER|RP4-742C19.12|ENSG00000225720|transcript|ENST00000560933|transcribed_unprocessed_pseudogene||n.-1C>T|||||4489|,T|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000461827|processed_transcript||n.*803C>T|||||3213|,T|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000494150|retained_intron||n.*2775C>T|||||4418|,T|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000481958|retained_intron||n.*2337C>T|||||3883| 22 39483155 . A G . . ANN=G|upstream_gene_variant|MODIFIER|RP4-742C19.12|ENSG00000225720|transcript|ENST00000424436|processed_transcript||n.-1A>G|||||4484|,G|upstream_gene_variant|MODIFIER|RP4-742C19.12|ENSG00000225720|transcript|ENST00000560933|transcribed_unprocessed_pseudogene||n.-1A>G|||||4436|,G|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000461827|processed_transcript||n.*803A>G|||||3266|,G|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000494150|retained_intron||n.*2775A>G|||||4471|,G|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000481958|retained_intron||n.*2337A>G|||||3936|,G|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000407997|protein_coding|7/7|c.1140+24A>G||||||,G|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|7/7|c.1140+24A>G|||||| 22 39483165 . C T . . ANN=T|upstream_gene_variant|MODIFIER|RP4-742C19.12|ENSG00000225720|transcript|ENST00000424436|processed_transcript||n.-1C>T|||||4474|,T|upstream_gene_variant|MODIFIER|RP4-742C19.12|ENSG00000225720|transcript|ENST00000560933|transcribed_unprocessed_pseudogene||n.-1C>T|||||4426|,T|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000461827|processed_transcript||n.*803C>T|||||3276|,T|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000494150|retained_intron||n.*2775C>T|||||4481|,T|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000481958|retained_intron||n.*2337C>T|||||3946|,T|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000407997|protein_coding|7/7|c.1140+34C>T||||||,T|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|7/7|c.1140+34C>T|||||| 22 39483399 . C T . . ANN=T|upstream_gene_variant|MODIFIER|RP4-742C19.12|ENSG00000225720|transcript|ENST00000424436|processed_transcript||n.-1C>T|||||4240|,T|upstream_gene_variant|MODIFIER|RP4-742C19.12|ENSG00000225720|transcript|ENST00000560933|transcribed_unprocessed_pseudogene||n.-1C>T|||||4192|,T|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000461827|processed_transcript||n.*803C>T|||||3510|,T|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000494150|retained_intron||n.*2775C>T|||||4715|,T|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000481958|retained_intron||n.*2337C>T|||||4180|,T|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000407997|protein_coding|7/7|c.1141-13C>T||||||,T|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|7/7|c.1141-13C>T|||||| 22 39483432 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000407997|protein_coding|8/8|c.*6G>A|||||6|,A|3_prime_UTR_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|8/8|c.*6G>A|||||6|,A|upstream_gene_variant|MODIFIER|RP4-742C19.12|ENSG00000225720|transcript|ENST00000424436|processed_transcript||n.-1G>A|||||4207|,A|upstream_gene_variant|MODIFIER|RP4-742C19.12|ENSG00000225720|transcript|ENST00000560933|transcribed_unprocessed_pseudogene||n.-1G>A|||||4159|,A|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000461827|processed_transcript||n.*803G>A|||||3543|,A|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000494150|retained_intron||n.*2775G>A|||||4748|,A|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000481958|retained_intron||n.*2337G>A|||||4213| 22 39483459 . A T . . ANN=T|3_prime_UTR_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000407997|protein_coding|8/8|c.*33A>T|||||33|,T|3_prime_UTR_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|8/8|c.*33A>T|||||33|,T|upstream_gene_variant|MODIFIER|RP4-742C19.12|ENSG00000225720|transcript|ENST00000424436|processed_transcript||n.-1A>T|||||4180|,T|upstream_gene_variant|MODIFIER|RP4-742C19.12|ENSG00000225720|transcript|ENST00000560933|transcribed_unprocessed_pseudogene||n.-1A>T|||||4132|,T|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000461827|processed_transcript||n.*803A>T|||||3570|,T|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000494150|retained_intron||n.*2775A>T|||||4775|,T|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000481958|retained_intron||n.*2337A>T|||||4240| 22 39496322 . TAAC T . . ANN=|disruptive_inframe_deletion|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000401756|protein_coding|2/6|c.45_47delCAA|p.Asn15del|121/1023|45/603|15/200||INFO_REALIGN_3_PRIME,|disruptive_inframe_deletion|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000421988|protein_coding|2/4|c.45_47delCAA|p.Asn15del|172/639|45/465|15/154||INFO_REALIGN_3_PRIME,|disruptive_inframe_deletion|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000442487|protein_coding|2/5|c.45_47delCAA|p.Asn15del|172/1047|45/552|15/183||INFO_REALIGN_3_PRIME,|disruptive_inframe_deletion|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000348946|protein_coding|2/5|c.45_47delCAA|p.Asn15del|172/1046|45/549|15/182||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000474235|retained_intron|2/2|n.125_127delCAA||||||INFO_REALIGN_3_PRIME 22 39496336 . G T . . ANN=T|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000401756|protein_coding|2/6|c.53G>T|p.Arg18Leu|129/1023|53/603|18/200||,T|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000421988|protein_coding|2/4|c.53G>T|p.Arg18Leu|180/639|53/465|18/154||,T|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000442487|protein_coding|2/5|c.53G>T|p.Arg18Leu|180/1047|53/552|18/183||,T|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000348946|protein_coding|2/5|c.53G>T|p.Arg18Leu|180/1046|53/549|18/182||,T|non_coding_exon_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000474235|retained_intron|2/2|n.133G>T|||||| 22 39496357 . C G . . ANN=G|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000401756|protein_coding|2/6|c.74C>G|p.Pro25Arg|150/1023|74/603|25/200||,G|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000421988|protein_coding|2/4|c.74C>G|p.Pro25Arg|201/639|74/465|25/154||,G|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000442487|protein_coding|2/5|c.74C>G|p.Pro25Arg|201/1047|74/552|25/183||,G|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000348946|protein_coding|2/5|c.74C>G|p.Pro25Arg|201/1046|74/549|25/182||,G|non_coding_exon_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000474235|retained_intron|2/2|n.154C>G|||||| 22 39496364 . G A . . ANN=A|synonymous_variant|LOW|APOBEC3H|ENSG00000100298|transcript|ENST00000401756|protein_coding|2/6|c.81G>A|p.Lys27Lys|157/1023|81/603|27/200||,A|synonymous_variant|LOW|APOBEC3H|ENSG00000100298|transcript|ENST00000421988|protein_coding|2/4|c.81G>A|p.Lys27Lys|208/639|81/465|27/154||,A|synonymous_variant|LOW|APOBEC3H|ENSG00000100298|transcript|ENST00000442487|protein_coding|2/5|c.81G>A|p.Lys27Lys|208/1047|81/552|27/183||,A|synonymous_variant|LOW|APOBEC3H|ENSG00000100298|transcript|ENST00000348946|protein_coding|2/5|c.81G>A|p.Lys27Lys|208/1046|81/549|27/182||,A|non_coding_exon_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000474235|retained_intron|2/2|n.161G>A|||||| 22 39496412 . G C . . ANN=C|synonymous_variant|LOW|APOBEC3H|ENSG00000100298|transcript|ENST00000401756|protein_coding|2/6|c.129G>C|p.Thr43Thr|205/1023|129/603|43/200||,C|synonymous_variant|LOW|APOBEC3H|ENSG00000100298|transcript|ENST00000421988|protein_coding|2/4|c.129G>C|p.Thr43Thr|256/639|129/465|43/154||,C|synonymous_variant|LOW|APOBEC3H|ENSG00000100298|transcript|ENST00000442487|protein_coding|2/5|c.129G>C|p.Thr43Thr|256/1047|129/552|43/183||,C|synonymous_variant|LOW|APOBEC3H|ENSG00000100298|transcript|ENST00000348946|protein_coding|2/5|c.129G>C|p.Thr43Thr|256/1046|129/549|43/182||,C|non_coding_exon_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000474235|retained_intron|2/2|n.209G>C|||||| 22 39497268 . T C . . ANN=C|synonymous_variant|LOW|APOBEC3H|ENSG00000100298|transcript|ENST00000401756|protein_coding|3/6|c.177T>C|p.Phe59Phe|253/1023|177/603|59/200||,C|synonymous_variant|LOW|APOBEC3H|ENSG00000100298|transcript|ENST00000421988|protein_coding|3/4|c.177T>C|p.Phe59Phe|304/639|177/465|59/154||,C|synonymous_variant|LOW|APOBEC3H|ENSG00000100298|transcript|ENST00000442487|protein_coding|3/5|c.177T>C|p.Phe59Phe|304/1047|177/552|59/183||,C|synonymous_variant|LOW|APOBEC3H|ENSG00000100298|transcript|ENST00000348946|protein_coding|3/5|c.177T>C|p.Phe59Phe|304/1046|177/549|59/182||,C|sequence_feature|LOW|APOBEC3H|ENSG00000100298|domain:CMP/dCMP_deaminase_zinc-binding|ENST00000401756|protein_coding|3/6|c.177T>C||||||,C|sequence_feature|LOW|APOBEC3H|ENSG00000100298|domain:CMP/dCMP_deaminase_zinc-binding|ENST00000421988|protein_coding|3/4|c.177T>C||||||,C|sequence_feature|LOW|APOBEC3H|ENSG00000100298|domain:CMP/dCMP_deaminase_zinc-binding|ENST00000442487|protein_coding|3/5|c.177T>C||||||,C|sequence_feature|LOW|APOBEC3H|ENSG00000100298|domain:CMP/dCMP_deaminase_zinc-binding|ENST00000348946|protein_coding|3/5|c.177T>C||||||,C|downstream_gene_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000474235|retained_intron||n.*338T>C|||||727| 22 39497300 . A G . . ANN=G|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000401756|protein_coding|3/6|c.209A>G|p.Glu70Gly|285/1023|209/603|70/200||,G|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000421988|protein_coding|3/4|c.209A>G|p.Glu70Gly|336/639|209/465|70/154||,G|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000442487|protein_coding|3/5|c.209A>G|p.Glu70Gly|336/1047|209/552|70/183||,G|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000348946|protein_coding|3/5|c.209A>G|p.Glu70Gly|336/1046|209/549|70/182||,G|sequence_feature|LOW|APOBEC3H|ENSG00000100298|domain:CMP/dCMP_deaminase_zinc-binding|ENST00000401756|protein_coding|3/6|c.209A>G||||||,G|sequence_feature|LOW|APOBEC3H|ENSG00000100298|domain:CMP/dCMP_deaminase_zinc-binding|ENST00000421988|protein_coding|3/4|c.209A>G||||||,G|sequence_feature|LOW|APOBEC3H|ENSG00000100298|domain:CMP/dCMP_deaminase_zinc-binding|ENST00000442487|protein_coding|3/5|c.209A>G||||||,G|sequence_feature|LOW|APOBEC3H|ENSG00000100298|domain:CMP/dCMP_deaminase_zinc-binding|ENST00000348946|protein_coding|3/5|c.209A>G||||||,G|downstream_gene_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000474235|retained_intron||n.*338A>G|||||759| 22 39497303 . C T . . ANN=T|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000401756|protein_coding|3/6|c.212C>T|p.Thr71Met|288/1023|212/603|71/200||,T|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000421988|protein_coding|3/4|c.212C>T|p.Thr71Met|339/639|212/465|71/154||,T|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000442487|protein_coding|3/5|c.212C>T|p.Thr71Met|339/1047|212/552|71/183||,T|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000348946|protein_coding|3/5|c.212C>T|p.Thr71Met|339/1046|212/549|71/182||,T|sequence_feature|LOW|APOBEC3H|ENSG00000100298|domain:CMP/dCMP_deaminase_zinc-binding|ENST00000401756|protein_coding|3/6|c.212C>T||||||,T|sequence_feature|LOW|APOBEC3H|ENSG00000100298|domain:CMP/dCMP_deaminase_zinc-binding|ENST00000421988|protein_coding|3/4|c.212C>T||||||,T|sequence_feature|LOW|APOBEC3H|ENSG00000100298|domain:CMP/dCMP_deaminase_zinc-binding|ENST00000442487|protein_coding|3/5|c.212C>T||||||,T|sequence_feature|LOW|APOBEC3H|ENSG00000100298|domain:CMP/dCMP_deaminase_zinc-binding|ENST00000348946|protein_coding|3/5|c.212C>T||||||,T|downstream_gene_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000474235|retained_intron||n.*338C>T|||||762| 22 39497389 . G C . . ANN=C|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000401756|protein_coding|3/6|c.298G>C|p.Asp100His|374/1023|298/603|100/200||,C|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000421988|protein_coding|3/4|c.298G>C|p.Asp100His|425/639|298/465|100/154||,C|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000442487|protein_coding|3/5|c.298G>C|p.Asp100His|425/1047|298/552|100/183||,C|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000348946|protein_coding|3/5|c.298G>C|p.Asp100His|425/1046|298/549|100/182||,C|downstream_gene_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000474235|retained_intron||n.*338G>C|||||848| 22 39497404 . G C . . ANN=C|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000401756|protein_coding|3/6|c.313G>C|p.Gly105Arg|389/1023|313/603|105/200||,C|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000421988|protein_coding|3/4|c.313G>C|p.Gly105Arg|440/639|313/465|105/154||,C|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000442487|protein_coding|3/5|c.313G>C|p.Gly105Arg|440/1047|313/552|105/183||,C|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000348946|protein_coding|3/5|c.313G>C|p.Gly105Arg|440/1046|313/549|105/182||,C|downstream_gene_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000474235|retained_intron||n.*338G>C|||||863| 22 39497406 . C T . . ANN=T|synonymous_variant|LOW|APOBEC3H|ENSG00000100298|transcript|ENST00000401756|protein_coding|3/6|c.315C>T|p.Gly105Gly|391/1023|315/603|105/200||,T|synonymous_variant|LOW|APOBEC3H|ENSG00000100298|transcript|ENST00000421988|protein_coding|3/4|c.315C>T|p.Gly105Gly|442/639|315/465|105/154||,T|synonymous_variant|LOW|APOBEC3H|ENSG00000100298|transcript|ENST00000442487|protein_coding|3/5|c.315C>T|p.Gly105Gly|442/1047|315/552|105/183||,T|synonymous_variant|LOW|APOBEC3H|ENSG00000100298|transcript|ENST00000348946|protein_coding|3/5|c.315C>T|p.Gly105Gly|442/1046|315/549|105/182||,T|downstream_gene_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000474235|retained_intron||n.*338C>T|||||865| 22 39497412 . C A,T . . ANN=A|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000401756|protein_coding|3/6|c.321C>A|p.Phe107Leu|397/1023|321/603|107/200||,A|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000421988|protein_coding|3/4|c.321C>A|p.Phe107Leu|448/639|321/465|107/154||,A|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000442487|protein_coding|3/5|c.321C>A|p.Phe107Leu|448/1047|321/552|107/183||,A|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000348946|protein_coding|3/5|c.321C>A|p.Phe107Leu|448/1046|321/549|107/182||,T|synonymous_variant|LOW|APOBEC3H|ENSG00000100298|transcript|ENST00000401756|protein_coding|3/6|c.321C>T|p.Phe107Phe|397/1023|321/603|107/200||,T|synonymous_variant|LOW|APOBEC3H|ENSG00000100298|transcript|ENST00000421988|protein_coding|3/4|c.321C>T|p.Phe107Phe|448/639|321/465|107/154||,T|synonymous_variant|LOW|APOBEC3H|ENSG00000100298|transcript|ENST00000442487|protein_coding|3/5|c.321C>T|p.Phe107Phe|448/1047|321/552|107/183||,T|synonymous_variant|LOW|APOBEC3H|ENSG00000100298|transcript|ENST00000348946|protein_coding|3/5|c.321C>T|p.Phe107Phe|448/1046|321/549|107/182||,A|downstream_gene_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000474235|retained_intron||n.*338C>A|||||871|,T|downstream_gene_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000474235|retained_intron||n.*338C>T|||||871| 22 39497452 . A G . . ANN=G|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000401756|protein_coding|3/6|c.361A>G|p.Lys121Glu|437/1023|361/603|121/200||,G|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000421988|protein_coding|3/4|c.361A>G|p.Lys121Glu|488/639|361/465|121/154||,G|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000442487|protein_coding|3/5|c.361A>G|p.Lys121Glu|488/1047|361/552|121/183||,G|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000348946|protein_coding|3/5|c.361A>G|p.Lys121Glu|488/1046|361/549|121/182||,G|downstream_gene_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000474235|retained_intron||n.*338A>G|||||911| 22 39497454 . G C . . ANN=C|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000401756|protein_coding|3/6|c.363G>C|p.Lys121Asn|439/1023|363/603|121/200||,C|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000421988|protein_coding|3/4|c.363G>C|p.Lys121Asn|490/639|363/465|121/154||,C|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000442487|protein_coding|3/5|c.363G>C|p.Lys121Asn|490/1047|363/552|121/183||,C|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000348946|protein_coding|3/5|c.363G>C|p.Lys121Asn|490/1046|363/549|121/182||,C|downstream_gene_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000474235|retained_intron||n.*338G>C|||||913| 22 39497509 . A G . . ANN=G|missense_variant&splice_region_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000401756|protein_coding|3/6|c.418A>G|p.Lys140Glu|494/1023|418/603|140/200||,G|missense_variant&splice_region_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000421988|protein_coding|3/4|c.418A>G|p.Asn140Asp|545/639|418/465|140/154||,G|missense_variant&splice_region_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000442487|protein_coding|3/5|c.418A>G|p.Lys140Glu|545/1047|418/552|140/183||,G|missense_variant&splice_region_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000348946|protein_coding|3/5|c.418A>G|p.Lys140Glu|545/1046|418/549|140/182||,G|downstream_gene_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000474235|retained_intron||n.*338A>G|||||968| 22 39497549 . C T . . ANN=T|downstream_gene_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000474235|retained_intron||n.*338C>T|||||1008|,T|intron_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000401756|protein_coding|3/5|c.418+40C>T||||||,T|intron_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000421988|protein_coding|3/3|c.418+40C>T||||||,T|intron_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000442487|protein_coding|3/4|c.418+40C>T||||||,T|intron_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000348946|protein_coding|3/4|c.418+40C>T|||||| 22 39497902 . G T . . ANN=T|downstream_gene_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000474235|retained_intron||n.*338G>T|||||1361|,T|intron_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000401756|protein_coding|3/5|c.419-21G>T||||||,T|intron_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000421988|protein_coding|3/3|c.418+393G>T||||||,T|intron_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000442487|protein_coding|3/4|c.419-21G>T||||||,T|intron_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000348946|protein_coding|3/4|c.419-21G>T|||||| 22 39497952 . G A . . ANN=A|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000401756|protein_coding|4/6|c.448G>A|p.Asp150Asn|524/1023|448/603|150/200||,A|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000442487|protein_coding|4/5|c.448G>A|p.Asp150Asn|575/1047|448/552|150/183||,A|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000348946|protein_coding|4/5|c.448G>A|p.Asp150Asn|575/1046|448/549|150/182||,A|downstream_gene_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000474235|retained_intron||n.*338G>A|||||1411|,A|intron_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000421988|protein_coding|3/3|c.418+443G>A|||||| 22 39498038 . G C . . ANN=C|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000401756|protein_coding|4/6|c.534G>C|p.Glu178Asp|610/1023|534/603|178/200||,C|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000442487|protein_coding|4/5|c.534G>C|p.Glu178Asp|661/1047|534/552|178/183||,C|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000348946|protein_coding|4/5|c.534G>C|p.Glu178Asp|661/1046|534/549|178/182||,C|sequence_feature|LOW|APOBEC3H|ENSG00000100298|coiled-coil_region|ENST00000401756|protein_coding|4/6|c.534G>C||||||,C|sequence_feature|LOW|APOBEC3H|ENSG00000100298|coiled-coil_region|ENST00000401756|protein_coding|5/6|c.534G>C||||||,C|downstream_gene_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000474235|retained_intron||n.*338G>C|||||1497|,C|intron_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000421988|protein_coding|3/3|c.419-479G>C|||||| 22 39498075 . C T . . ANN=T|sequence_feature|LOW|APOBEC3H|ENSG00000100298|coiled-coil_region|ENST00000401756|protein_coding|4/6|c.543+28C>T||||||,T|sequence_feature|LOW|APOBEC3H|ENSG00000100298|coiled-coil_region|ENST00000401756|protein_coding|5/6|c.543+28C>T||||||,T|downstream_gene_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000474235|retained_intron||n.*338C>T|||||1534|,T|intron_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000401756|protein_coding|4/5|c.543+28C>T||||||,T|intron_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000421988|protein_coding|3/3|c.419-442C>T||||||,T|intron_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000442487|protein_coding|4/4|c.543+28C>T||||||,T|intron_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000348946|protein_coding|4/4|c.543+28C>T|||||| 22 39499653 . C T . . ANN=T|downstream_gene_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000421988|protein_coding||c.*592C>T|||||1043|,T|downstream_gene_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000474235|retained_intron||n.*338C>T|||||3112|,T|intron_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000401756|protein_coding|5/5|c.*35-41C>T||||||,T|intron_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000442487|protein_coding|4/4|c.544-41C>T||||||,T|intron_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000348946|protein_coding|4/4|c.544-44C>T|||||| 22 39499698 . C A . . ANN=A|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000442487|protein_coding|5/5|c.548C>A|p.Ser183Tyr|675/1047|548/552|183/183||,A|missense_variant&splice_region_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000348946|protein_coding|5/5|c.545C>A|p.Ser182Tyr|672/1046|545/549|182/182||,A|3_prime_UTR_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000401756|protein_coding|6/6|c.*39C>A|||||1122|,A|downstream_gene_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000421988|protein_coding||c.*592C>A|||||1088|,A|downstream_gene_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000474235|retained_intron||n.*338C>A|||||3157| 22 39529880 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000216133|protein_coding|6/6|c.*16C>T|||||16|,A|3_prime_UTR_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000401405|protein_coding|6/6|c.*16C>T|||||16|,A|downstream_gene_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000434260|protein_coding||c.*472C>T|||||694|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000475962|processed_transcript|1/1|n.45-13302C>T||||||,A|non_coding_exon_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000490741|retained_intron|2/2|n.550C>T|||||| 22 39529935 . T C . . ANN=C|synonymous_variant|LOW|CBX7|ENSG00000100307|transcript|ENST00000216133|protein_coding|6/6|c.717A>G|p.Ala239Ala|923/4081|717/756|239/251||,C|synonymous_variant|LOW|CBX7|ENSG00000100307|transcript|ENST00000401405|protein_coding|6/6|c.438A>G|p.Ala146Ala|438/784|438/477|146/158||,C|downstream_gene_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000434260|protein_coding||c.*472A>G|||||639|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000475962|processed_transcript|1/1|n.45-13357A>G||||||,C|non_coding_exon_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000490741|retained_intron|2/2|n.495A>G|||||| 22 39530409 . C T . . ANN=T|missense_variant|MODERATE|CBX7|ENSG00000100307|transcript|ENST00000216133|protein_coding|5/6|c.595G>A|p.Glu199Lys|801/4081|595/756|199/251||,T|missense_variant|MODERATE|CBX7|ENSG00000100307|transcript|ENST00000401405|protein_coding|5/6|c.316G>A|p.Glu106Lys|316/784|316/477|106/158||,T|downstream_gene_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000434260|protein_coding||c.*472G>A|||||165|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000475962|processed_transcript|1/1|n.45-13831G>A||||||,T|non_coding_exon_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000490741|retained_intron|1/2|n.376G>A|||||| 22 39530426 . G A . . ANN=A|missense_variant|MODERATE|CBX7|ENSG00000100307|transcript|ENST00000216133|protein_coding|5/6|c.578C>T|p.Ala193Val|784/4081|578/756|193/251||,A|missense_variant|MODERATE|CBX7|ENSG00000100307|transcript|ENST00000401405|protein_coding|5/6|c.299C>T|p.Ala100Val|299/784|299/477|100/158||,A|downstream_gene_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000434260|protein_coding||c.*472C>T|||||148|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000475962|processed_transcript|1/1|n.45-13848C>T||||||,A|non_coding_exon_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000490741|retained_intron|1/2|n.359C>T|||||| 22 39530461 . G A . . ANN=A|synonymous_variant|LOW|CBX7|ENSG00000100307|transcript|ENST00000216133|protein_coding|5/6|c.543C>T|p.Asp181Asp|749/4081|543/756|181/251||,A|synonymous_variant|LOW|CBX7|ENSG00000100307|transcript|ENST00000401405|protein_coding|5/6|c.264C>T|p.Asp88Asp|264/784|264/477|88/158||,A|downstream_gene_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000434260|protein_coding||c.*472C>T|||||113|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000475962|processed_transcript|1/1|n.45-13883C>T||||||,A|non_coding_exon_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000490741|retained_intron|1/2|n.324C>T|||||| 22 39530475 . G C . . ANN=C|missense_variant|MODERATE|CBX7|ENSG00000100307|transcript|ENST00000216133|protein_coding|5/6|c.529C>G|p.Pro177Ala|735/4081|529/756|177/251||,C|missense_variant|MODERATE|CBX7|ENSG00000100307|transcript|ENST00000401405|protein_coding|5/6|c.250C>G|p.Pro84Ala|250/784|250/477|84/158||,C|downstream_gene_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000434260|protein_coding||c.*472C>G|||||99|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000475962|processed_transcript|1/1|n.45-13897C>G||||||,C|non_coding_exon_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000490741|retained_intron|1/2|n.310C>G|||||| 22 39530494 . C CCGT . . ANN=CGT|disruptive_inframe_insertion|MODERATE|CBX7|ENSG00000100307|transcript|ENST00000216133|protein_coding|5/6|c.507_509dupACG|p.Arg170dup|715/4081|509/756|170/251||,CGT|downstream_gene_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000434260|protein_coding||c.*472_*472dupACG|||||79|WARNING_TRANSCRIPT_INCOMPLETE,CGT|intron_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000475962|processed_transcript|1/1|n.45-13919_45-13917dupACG||||||,CGT|intron_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000401405|protein_coding|4/5|c.247-19_247-17dupACG||||||,CGT|non_coding_exon_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000490741|retained_intron|1/2|n.288_290dupACG|||||| 22 39530539 . C T . . ANN=T|synonymous_variant|LOW|CBX7|ENSG00000100307|transcript|ENST00000216133|protein_coding|5/6|c.465G>A|p.Lys155Lys|671/4081|465/756|155/251||,T|downstream_gene_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000434260|protein_coding||c.*472G>A|||||35|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000475962|processed_transcript|1/1|n.45-13961G>A||||||,T|intron_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000401405|protein_coding|4/5|c.247-61G>A||||||,T|non_coding_exon_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000490741|retained_intron|1/2|n.246G>A|||||| 22 39537456 . G C . . ANN=C|sequence_feature|LOW|CBX7|ENSG00000100307|domain:Chromo|ENST00000216133|protein_coding|1/6|c.114-15C>G||||||,C|sequence_feature|LOW|CBX7|ENSG00000100307|domain:Chromo|ENST00000216133|protein_coding|2/6|c.114-15C>G||||||,C|sequence_feature|LOW|CBX7|ENSG00000100307|domain:Chromo|ENST00000216133|protein_coding|4/6|c.114-15C>G||||||,C|sequence_feature|LOW|CBX7|ENSG00000100307|domain:Chromo|ENST00000216133|protein_coding|3/6|c.114-15C>G||||||,C|sequence_feature|LOW|CBX7|ENSG00000100307|helix|ENST00000216133|protein_coding|2/6|c.114-15C>G||||||,C|sequence_feature|LOW|CBX7|ENSG00000100307|helix|ENST00000216133|protein_coding|3/6|c.114-15C>G||||||,C|intron_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000216133|protein_coding|2/5|c.114-15C>G||||||,C|intron_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000475962|processed_transcript|1/1|n.44+8338C>G||||||,C|intron_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000401405|protein_coding|2/5|c.114-15C>G||||||,C|intron_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000434260|protein_coding|2/3|c.114-2749C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000477827|retained_intron|2/2|n.210-15C>G|||||| 22 39537468 . T TTGGGGC . . ANN=TGGGGC|sequence_feature|LOW|CBX7|ENSG00000100307|domain:Chromo|ENST00000216133|protein_coding|1/6|c.114-33_114-28dupGCCCCA||||||,TGGGGC|sequence_feature|LOW|CBX7|ENSG00000100307|domain:Chromo|ENST00000216133|protein_coding|2/6|c.114-33_114-28dupGCCCCA||||||,TGGGGC|sequence_feature|LOW|CBX7|ENSG00000100307|domain:Chromo|ENST00000216133|protein_coding|4/6|c.114-33_114-28dupGCCCCA||||||,TGGGGC|sequence_feature|LOW|CBX7|ENSG00000100307|domain:Chromo|ENST00000216133|protein_coding|3/6|c.114-33_114-28dupGCCCCA||||||,TGGGGC|sequence_feature|LOW|CBX7|ENSG00000100307|helix|ENST00000216133|protein_coding|2/6|c.114-33_114-28dupGCCCCA||||||,TGGGGC|sequence_feature|LOW|CBX7|ENSG00000100307|helix|ENST00000216133|protein_coding|3/6|c.114-33_114-28dupGCCCCA||||||,TGGGGC|intron_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000216133|protein_coding|2/5|c.114-33_114-28dupGCCCCA||||||,TGGGGC|intron_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000475962|processed_transcript|1/1|n.44+8320_44+8325dupGCCCCA||||||,TGGGGC|intron_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000401405|protein_coding|2/5|c.114-33_114-28dupGCCCCA||||||,TGGGGC|intron_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000434260|protein_coding|2/3|c.114-2767_114-2762dupGCCCCA||||||WARNING_TRANSCRIPT_INCOMPLETE,TGGGGC|intron_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000477827|retained_intron|2/2|n.210-33_210-28dupGCCCCA|||||| 22 39545758 . G GCAGA . . ANN=CAGA|sequence_feature|LOW|CBX7|ENSG00000100307|domain:Chromo|ENST00000216133|protein_coding|1/6|c.113+32_113+35dupTCTG||||||,CAGA|sequence_feature|LOW|CBX7|ENSG00000100307|domain:Chromo|ENST00000216133|protein_coding|2/6|c.113+32_113+35dupTCTG||||||,CAGA|sequence_feature|LOW|CBX7|ENSG00000100307|domain:Chromo|ENST00000216133|protein_coding|4/6|c.113+32_113+35dupTCTG||||||,CAGA|sequence_feature|LOW|CBX7|ENSG00000100307|domain:Chromo|ENST00000216133|protein_coding|3/6|c.113+32_113+35dupTCTG||||||,CAGA|sequence_feature|LOW|CBX7|ENSG00000100307|helix|ENST00000216133|protein_coding|2/6|c.113+32_113+35dupTCTG||||||,CAGA|sequence_feature|LOW|CBX7|ENSG00000100307|helix|ENST00000216133|protein_coding|3/6|c.113+32_113+35dupTCTG||||||,CAGA|intron_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000216133|protein_coding|2/5|c.113+32_113+35dupTCTG||||||,CAGA|intron_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000475962|processed_transcript|1/1|n.44+32_44+35dupTCTG||||||,CAGA|intron_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000401405|protein_coding|2/5|c.113+32_113+35dupTCTG||||||,CAGA|intron_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000434260|protein_coding|2/3|c.113+32_113+35dupTCTG||||||WARNING_TRANSCRIPT_INCOMPLETE,CAGA|intron_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000477827|retained_intron|2/2|n.209+32_209+35dupTCTG||||||,CAGA|non_coding_exon_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000482294|retained_intron|2/2|n.375_378dupTCTG|||||| 22 39545759 . CAG C . . ANN=|sequence_feature|LOW|CBX7|ENSG00000100307|domain:Chromo|ENST00000216133|protein_coding|1/6|c.113+33_113+34delCT||||||,|sequence_feature|LOW|CBX7|ENSG00000100307|domain:Chromo|ENST00000216133|protein_coding|2/6|c.113+33_113+34delCT||||||,|sequence_feature|LOW|CBX7|ENSG00000100307|domain:Chromo|ENST00000216133|protein_coding|4/6|c.113+33_113+34delCT||||||,|sequence_feature|LOW|CBX7|ENSG00000100307|domain:Chromo|ENST00000216133|protein_coding|3/6|c.113+33_113+34delCT||||||,|sequence_feature|LOW|CBX7|ENSG00000100307|helix|ENST00000216133|protein_coding|2/6|c.113+33_113+34delCT||||||,|sequence_feature|LOW|CBX7|ENSG00000100307|helix|ENST00000216133|protein_coding|3/6|c.113+33_113+34delCT||||||,|intron_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000216133|protein_coding|2/5|c.113+33_113+34delCT||||||,|intron_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000475962|processed_transcript|1/1|n.44+33_44+34delCT||||||,|intron_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000401405|protein_coding|2/5|c.113+33_113+34delCT||||||,|intron_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000434260|protein_coding|2/3|c.113+33_113+34delCT||||||WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000477827|retained_intron|2/2|n.209+33_209+34delCT||||||,|non_coding_exon_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000482294|retained_intron|2/2|n.376_377delCT|||||| 22 39545788 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|CBX7|ENSG00000100307|transcript|ENST00000216133|protein_coding|2/5|c.113+6C>T||||||,A|splice_region_variant&intron_variant|LOW|CBX7|ENSG00000100307|transcript|ENST00000475962|processed_transcript|1/1|n.44+6C>T||||||,A|splice_region_variant&intron_variant|LOW|CBX7|ENSG00000100307|transcript|ENST00000401405|protein_coding|2/5|c.113+6C>T||||||,A|splice_region_variant&intron_variant|LOW|CBX7|ENSG00000100307|transcript|ENST00000434260|protein_coding|2/3|c.113+6C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|splice_region_variant&intron_variant|LOW|CBX7|ENSG00000100307|transcript|ENST00000477827|retained_intron|2/2|n.209+6C>T||||||,A|sequence_feature|LOW|CBX7|ENSG00000100307|domain:Chromo|ENST00000216133|protein_coding|1/6|c.113+6C>T||||||,A|sequence_feature|LOW|CBX7|ENSG00000100307|domain:Chromo|ENST00000216133|protein_coding|2/6|c.113+6C>T||||||,A|sequence_feature|LOW|CBX7|ENSG00000100307|domain:Chromo|ENST00000216133|protein_coding|4/6|c.113+6C>T||||||,A|sequence_feature|LOW|CBX7|ENSG00000100307|domain:Chromo|ENST00000216133|protein_coding|3/6|c.113+6C>T||||||,A|sequence_feature|LOW|CBX7|ENSG00000100307|helix|ENST00000216133|protein_coding|2/6|c.113+6C>T||||||,A|sequence_feature|LOW|CBX7|ENSG00000100307|helix|ENST00000216133|protein_coding|3/6|c.113+6C>T||||||,A|non_coding_exon_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000482294|retained_intron|2/2|n.349C>T|||||| 22 39545829 . G C . . ANN=C|synonymous_variant|LOW|CBX7|ENSG00000100307|transcript|ENST00000216133|protein_coding|2/6|c.78C>G|p.Val26Val|284/4081|78/756|26/251||,C|synonymous_variant|LOW|CBX7|ENSG00000100307|transcript|ENST00000401405|protein_coding|2/6|c.78C>G|p.Val26Val|78/784|78/477|26/158||,C|synonymous_variant|LOW|CBX7|ENSG00000100307|transcript|ENST00000434260|protein_coding|2/4|c.78C>G|p.Val26Val|186/472|78/364|26/120||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|CBX7|ENSG00000100307|domain:Chromo|ENST00000216133|protein_coding|1/6|c.78C>G||||||,C|sequence_feature|LOW|CBX7|ENSG00000100307|domain:Chromo|ENST00000216133|protein_coding|2/6|c.78C>G||||||,C|sequence_feature|LOW|CBX7|ENSG00000100307|domain:Chromo|ENST00000216133|protein_coding|4/6|c.78C>G||||||,C|sequence_feature|LOW|CBX7|ENSG00000100307|domain:Chromo|ENST00000216133|protein_coding|3/6|c.78C>G||||||,C|sequence_feature|LOW|CBX7|ENSG00000100307|beta_strand|ENST00000216133|protein_coding|2/6|c.78C>G||||||,C|non_coding_exon_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000475962|processed_transcript|1/2|n.9C>G||||||,C|non_coding_exon_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000477827|retained_intron|2/3|n.174C>G||||||,C|non_coding_exon_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000482294|retained_intron|2/2|n.308C>G|||||| 22 39621704 . CCA C . . ANN=|3_prime_UTR_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000331163|protein_coding|6/7|c.*22_*23delTG|||||22|,|3_prime_UTR_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000381551|protein_coding|6/7|c.*22_*23delTG|||||22|,|downstream_gene_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000455790|protein_coding||c.*554_*554delTG|||||4459|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000440375|protein_coding||c.*556_*556delTG|||||4484|WARNING_TRANSCRIPT_NO_STOP_CODON 22 39621754 . C T . . ANN=T|missense_variant|MODERATE|PDGFB|ENSG00000100311|transcript|ENST00000331163|protein_coding|6/7|c.700G>A|p.Ala234Thr|1488/3497|700/726|234/241||,T|missense_variant|MODERATE|PDGFB|ENSG00000100311|transcript|ENST00000381551|protein_coding|6/7|c.655G>A|p.Ala219Thr|692/1125|655/681|219/226||,T|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|5/7|c.700G>A||||||,T|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|6/7|c.700G>A||||||,T|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000381551|protein_coding|5/7|c.655G>A||||||,T|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000381551|protein_coding|6/7|c.655G>A||||||,T|downstream_gene_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000455790|protein_coding||c.*554G>A|||||4410|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000440375|protein_coding||c.*556G>A|||||4435|WARNING_TRANSCRIPT_NO_STOP_CODON 22 39621797 . G T . . ANN=T|synonymous_variant|LOW|PDGFB|ENSG00000100311|transcript|ENST00000331163|protein_coding|6/7|c.657C>A|p.Pro219Pro|1445/3497|657/726|219/241||,T|synonymous_variant|LOW|PDGFB|ENSG00000100311|transcript|ENST00000381551|protein_coding|6/7|c.612C>A|p.Pro204Pro|649/1125|612/681|204/226||,T|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|5/7|c.657C>A||||||,T|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|6/7|c.657C>A||||||,T|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000381551|protein_coding|5/7|c.612C>A||||||,T|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000381551|protein_coding|6/7|c.612C>A||||||,T|downstream_gene_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000455790|protein_coding||c.*554C>A|||||4367|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000440375|protein_coding||c.*556C>A|||||4392|WARNING_TRANSCRIPT_NO_STOP_CODON 22 39621819 . G A . . ANN=A|missense_variant|MODERATE|PDGFB|ENSG00000100311|transcript|ENST00000331163|protein_coding|6/7|c.635C>T|p.Thr212Met|1423/3497|635/726|212/241||,A|missense_variant|MODERATE|PDGFB|ENSG00000100311|transcript|ENST00000381551|protein_coding|6/7|c.590C>T|p.Thr197Met|627/1125|590/681|197/226||,A|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|5/7|c.635C>T||||||,A|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|6/7|c.635C>T||||||,A|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000381551|protein_coding|5/7|c.590C>T||||||,A|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000381551|protein_coding|6/7|c.590C>T||||||,A|downstream_gene_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000455790|protein_coding||c.*554C>T|||||4345|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000440375|protein_coding||c.*556C>T|||||4370|WARNING_TRANSCRIPT_NO_STOP_CODON 22 39621882 . C T . . ANN=T|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|5/7|c.602-30G>A||||||,T|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|6/7|c.602-30G>A||||||,T|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000381551|protein_coding|5/7|c.557-30G>A||||||,T|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000381551|protein_coding|6/7|c.557-30G>A||||||,T|downstream_gene_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000455790|protein_coding||c.*554G>A|||||4282|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000440375|protein_coding||c.*556G>A|||||4307|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000331163|protein_coding|5/6|c.602-30G>A||||||,T|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000381551|protein_coding|5/6|c.557-30G>A|||||| 22 39621893 . T C . . ANN=C|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|5/7|c.602-41A>G||||||,C|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|6/7|c.602-41A>G||||||,C|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000381551|protein_coding|5/7|c.557-41A>G||||||,C|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000381551|protein_coding|6/7|c.557-41A>G||||||,C|downstream_gene_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000455790|protein_coding||c.*554A>G|||||4271|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000440375|protein_coding||c.*556A>G|||||4296|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000331163|protein_coding|5/6|c.602-41A>G||||||,C|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000381551|protein_coding|5/6|c.557-41A>G|||||| 22 39626262 . G A . . ANN=A|sequence_feature|LOW|PDGFB|ENSG00000100311|disulfide_bond|ENST00000331163|protein_coding|4/7|c.457-29C>T||||||,A|sequence_feature|LOW|PDGFB|ENSG00000100311|disulfide_bond|ENST00000331163|protein_coding|5/7|c.457-29C>T||||||,A|sequence_feature|LOW|PDGFB|ENSG00000100311|beta_strand|ENST00000331163|protein_coding|4/7|c.457-29C>T||||||,A|sequence_feature|LOW|PDGFB|ENSG00000100311|beta_strand|ENST00000331163|protein_coding|5/7|c.457-29C>T||||||,A|sequence_feature|LOW|PDGFB|ENSG00000100311|disulfide_bond|ENST00000381551|protein_coding|4/7|c.412-29C>T||||||,A|sequence_feature|LOW|PDGFB|ENSG00000100311|disulfide_bond|ENST00000381551|protein_coding|5/7|c.412-29C>T||||||,A|sequence_feature|LOW|PDGFB|ENSG00000100311|beta_strand|ENST00000381551|protein_coding|4/7|c.412-29C>T||||||,A|sequence_feature|LOW|PDGFB|ENSG00000100311|beta_strand|ENST00000381551|protein_coding|5/7|c.412-29C>T||||||,A|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000331163|protein_coding|4/6|c.457-29C>T||||||,A|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000381551|protein_coding|4/6|c.412-29C>T||||||,A|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000455790|protein_coding|4/4|c.364-29C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000440375|protein_coding|4/4|c.364-29C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 39627630 . G C . . ANN=C|synonymous_variant|LOW|PDGFB|ENSG00000100311|transcript|ENST00000331163|protein_coding|4/7|c.453C>G|p.Val151Val|1241/3497|453/726|151/241||,C|synonymous_variant|LOW|PDGFB|ENSG00000100311|transcript|ENST00000381551|protein_coding|4/7|c.408C>G|p.Val136Val|445/1125|408/681|136/226||,C|synonymous_variant|LOW|PDGFB|ENSG00000100311|transcript|ENST00000455790|protein_coding|4/5|c.360C>G|p.Val120Val|481/554|360/433|120/143||WARNING_TRANSCRIPT_INCOMPLETE,C|synonymous_variant|LOW|PDGFB|ENSG00000100311|transcript|ENST00000440375|protein_coding|4/5|c.360C>G|p.Val120Val|508/556|360/408|120/135||WARNING_TRANSCRIPT_NO_STOP_CODON,C|sequence_feature|LOW|PDGFB|ENSG00000100311|disulfide_bond|ENST00000331163|protein_coding|4/7|c.453C>G||||||,C|sequence_feature|LOW|PDGFB|ENSG00000100311|disulfide_bond|ENST00000331163|protein_coding|5/7|c.453C>G||||||,C|sequence_feature|LOW|PDGFB|ENSG00000100311|beta_strand|ENST00000331163|protein_coding|4/7|c.453C>G||||||,C|sequence_feature|LOW|PDGFB|ENSG00000100311|beta_strand|ENST00000331163|protein_coding|5/7|c.453C>G||||||,C|sequence_feature|LOW|PDGFB|ENSG00000100311|disulfide_bond|ENST00000381551|protein_coding|4/7|c.408C>G||||||,C|sequence_feature|LOW|PDGFB|ENSG00000100311|disulfide_bond|ENST00000381551|protein_coding|5/7|c.408C>G||||||,C|sequence_feature|LOW|PDGFB|ENSG00000100311|beta_strand|ENST00000381551|protein_coding|4/7|c.408C>G||||||,C|sequence_feature|LOW|PDGFB|ENSG00000100311|beta_strand|ENST00000381551|protein_coding|5/7|c.408C>G|||||| 22 39627821 . T C . . ANN=C|missense_variant|MODERATE|PDGFB|ENSG00000100311|transcript|ENST00000331163|protein_coding|4/7|c.262A>G|p.Ile88Val|1050/3497|262/726|88/241||,C|missense_variant|MODERATE|PDGFB|ENSG00000100311|transcript|ENST00000381551|protein_coding|4/7|c.217A>G|p.Ile73Val|254/1125|217/681|73/226||,C|missense_variant|MODERATE|PDGFB|ENSG00000100311|transcript|ENST00000455790|protein_coding|4/5|c.169A>G|p.Ile57Val|290/554|169/433|57/143||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|PDGFB|ENSG00000100311|transcript|ENST00000440375|protein_coding|4/5|c.169A>G|p.Ile57Val|317/556|169/408|57/135||WARNING_TRANSCRIPT_NO_STOP_CODON 22 39629406 . T C . . ANN=C|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000331163|protein_coding|3/6|c.250+34A>G||||||,C|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000381551|protein_coding|3/6|c.205+34A>G||||||,C|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000455790|protein_coding|3/4|c.157+34A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000440375|protein_coding|3/4|c.157+34A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 39629415 . C A . . ANN=A|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000331163|protein_coding|3/6|c.250+25G>T||||||,A|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000381551|protein_coding|3/6|c.205+25G>T||||||,A|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000455790|protein_coding|3/4|c.157+25G>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000440375|protein_coding|3/4|c.157+25G>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 39629418 . T C . . ANN=C|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000331163|protein_coding|3/6|c.250+22A>G||||||,C|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000381551|protein_coding|3/6|c.205+22A>G||||||,C|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000455790|protein_coding|3/4|c.157+22A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000440375|protein_coding|3/4|c.157+22A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 39629478 . C T . . ANN=T|missense_variant|MODERATE|PDGFB|ENSG00000100311|transcript|ENST00000331163|protein_coding|3/7|c.212G>A|p.Gly71Asp|1000/3497|212/726|71/241||,T|missense_variant|MODERATE|PDGFB|ENSG00000100311|transcript|ENST00000381551|protein_coding|3/7|c.167G>A|p.Gly56Asp|204/1125|167/681|56/226||,T|missense_variant|MODERATE|PDGFB|ENSG00000100311|transcript|ENST00000455790|protein_coding|3/5|c.119G>A|p.Gly40Asp|240/554|119/433|40/143||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|PDGFB|ENSG00000100311|transcript|ENST00000440375|protein_coding|3/5|c.119G>A|p.Gly40Asp|267/556|119/408|40/135||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|1/7|c.212G>A||||||,T|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|2/7|c.212G>A||||||,T|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|3/7|c.212G>A||||||,T|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000381551|protein_coding|1/7|c.167G>A||||||,T|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000381551|protein_coding|2/7|c.167G>A||||||,T|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000381551|protein_coding|3/7|c.167G>A|||||| 22 39629561 . G A . . ANN=A|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|1/7|c.161-32C>T||||||,A|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|2/7|c.161-32C>T||||||,A|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|3/7|c.161-32C>T||||||,A|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000381551|protein_coding|1/7|c.116-32C>T||||||,A|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000381551|protein_coding|2/7|c.116-32C>T||||||,A|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000381551|protein_coding|3/7|c.116-32C>T||||||,A|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000331163|protein_coding|2/6|c.161-32C>T||||||,A|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000381551|protein_coding|2/6|c.116-32C>T||||||,A|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000455790|protein_coding|2/4|c.68-32C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000440375|protein_coding|2/4|c.68-32C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 39629575 . C G . . ANN=G|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|1/7|c.161-46G>C||||||,G|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|2/7|c.161-46G>C||||||,G|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|3/7|c.161-46G>C||||||,G|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000381551|protein_coding|1/7|c.116-46G>C||||||,G|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000381551|protein_coding|2/7|c.116-46G>C||||||,G|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000381551|protein_coding|3/7|c.116-46G>C||||||,G|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000331163|protein_coding|2/6|c.161-46G>C||||||,G|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000381551|protein_coding|2/6|c.116-46G>C||||||,G|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000455790|protein_coding|2/4|c.68-46G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000440375|protein_coding|2/4|c.68-46G>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 39631747 . C G . . ANN=G|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|1/7|c.160+36G>C||||||,G|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|2/7|c.160+36G>C||||||,G|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|3/7|c.160+36G>C||||||,G|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000381551|protein_coding|1/7|c.115+36G>C||||||,G|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000381551|protein_coding|2/7|c.115+36G>C||||||,G|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000381551|protein_coding|3/7|c.115+36G>C||||||,G|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000331163|protein_coding|2/6|c.160+36G>C||||||,G|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000381551|protein_coding|2/6|c.115+36G>C||||||,G|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000455790|protein_coding|2/4|c.67+36G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000440375|protein_coding|2/4|c.67+36G>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 39631768 . G T . . ANN=T|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|1/7|c.160+15C>A||||||,T|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|2/7|c.160+15C>A||||||,T|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|3/7|c.160+15C>A||||||,T|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000381551|protein_coding|1/7|c.115+15C>A||||||,T|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000381551|protein_coding|2/7|c.115+15C>A||||||,T|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000381551|protein_coding|3/7|c.115+15C>A||||||,T|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000331163|protein_coding|2/6|c.160+15C>A||||||,T|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000381551|protein_coding|2/6|c.115+15C>A||||||,T|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000455790|protein_coding|2/4|c.67+15C>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000440375|protein_coding|2/4|c.67+15C>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 39631786 . C T . . ANN=T|missense_variant|MODERATE|PDGFB|ENSG00000100311|transcript|ENST00000331163|protein_coding|2/7|c.157G>A|p.Gly53Arg|945/3497|157/726|53/241||,T|missense_variant|MODERATE|PDGFB|ENSG00000100311|transcript|ENST00000381551|protein_coding|2/7|c.112G>A|p.Gly38Arg|149/1125|112/681|38/226||,T|missense_variant|MODERATE|PDGFB|ENSG00000100311|transcript|ENST00000455790|protein_coding|2/5|c.64G>A|p.Gly22Arg|185/554|64/433|22/143||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|PDGFB|ENSG00000100311|transcript|ENST00000440375|protein_coding|2/5|c.64G>A|p.Gly22Arg|212/556|64/408|22/135||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|1/7|c.157G>A||||||,T|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|2/7|c.157G>A||||||,T|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|3/7|c.157G>A||||||,T|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000381551|protein_coding|1/7|c.112G>A||||||,T|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000381551|protein_coding|2/7|c.112G>A||||||,T|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000381551|protein_coding|3/7|c.112G>A|||||| 22 39631788 . G A . . ANN=A|missense_variant|MODERATE|PDGFB|ENSG00000100311|transcript|ENST00000331163|protein_coding|2/7|c.155C>T|p.Pro52Leu|943/3497|155/726|52/241||,A|missense_variant|MODERATE|PDGFB|ENSG00000100311|transcript|ENST00000381551|protein_coding|2/7|c.110C>T|p.Pro37Leu|147/1125|110/681|37/226||,A|missense_variant|MODERATE|PDGFB|ENSG00000100311|transcript|ENST00000455790|protein_coding|2/5|c.62C>T|p.Pro21Leu|183/554|62/433|21/143||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|PDGFB|ENSG00000100311|transcript|ENST00000440375|protein_coding|2/5|c.62C>T|p.Pro21Leu|210/556|62/408|21/135||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|1/7|c.155C>T||||||,A|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|2/7|c.155C>T||||||,A|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|3/7|c.155C>T||||||,A|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000381551|protein_coding|1/7|c.110C>T||||||,A|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000381551|protein_coding|2/7|c.110C>T||||||,A|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000381551|protein_coding|3/7|c.110C>T|||||| 22 39636829 . A T . . ANN=T|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|1/7|c.63+3077T>A||||||,T|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|2/7|c.63+3077T>A||||||,T|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|3/7|c.63+3077T>A||||||,T|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000381551|protein_coding|1/7|c.18+31T>A||||||,T|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000381551|protein_coding|2/7|c.18+31T>A||||||,T|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000381551|protein_coding|3/7|c.18+31T>A||||||,T|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000331163|protein_coding|1/6|c.63+3077T>A||||||,T|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000381551|protein_coding|1/6|c.18+31T>A||||||,T|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000455790|protein_coding|1/4|c.-31+2102T>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000440375|protein_coding|1/4|c.-31+189T>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 39636853 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|PDGFB|ENSG00000100311|transcript|ENST00000381551|protein_coding|1/6|c.18+7A>G||||||,C|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|1/7|c.63+3053A>G||||||,C|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|2/7|c.63+3053A>G||||||,C|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|3/7|c.63+3053A>G||||||,C|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000381551|protein_coding|1/7|c.18+7A>G||||||,C|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000381551|protein_coding|2/7|c.18+7A>G||||||,C|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000381551|protein_coding|3/7|c.18+7A>G||||||,C|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000331163|protein_coding|1/6|c.63+3053A>G||||||,C|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000455790|protein_coding|1/4|c.-31+2078A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000440375|protein_coding|1/4|c.-31+165A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 39636923 . TGC T,TGCGCGC . . ANN=|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|1/7|c.63+2981_63+2982delGC||||||,|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|2/7|c.63+2981_63+2982delGC||||||,|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|3/7|c.63+2981_63+2982delGC||||||,GCGC|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|1/7|c.63+2980_63+2981insGCGC||||||,GCGC|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|2/7|c.63+2980_63+2981insGCGC||||||,GCGC|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|3/7|c.63+2980_63+2981insGCGC||||||,|upstream_gene_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000381551|protein_coding||c.-38_-38delGC|||||10|,GCGC|upstream_gene_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000381551|protein_coding||c.-38_-38insGCGC|||||12|,|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000331163|protein_coding|1/6|c.63+2981_63+2982delGC||||||,GCGC|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000331163|protein_coding|1/6|c.63+2980_63+2981insGCGC||||||,|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000455790|protein_coding|1/4|c.-31+2006_-31+2007delGC||||||WARNING_TRANSCRIPT_INCOMPLETE,GCGC|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000455790|protein_coding|1/4|c.-31+2005_-31+2006insGCGC||||||WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000440375|protein_coding|1/4|c.-31+93_-31+94delGC||||||WARNING_TRANSCRIPT_NO_STOP_CODON,GCGC|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000440375|protein_coding|1/4|c.-31+92_-31+93insGCGC||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 39636924 . GCGCA G . . ANN=|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|1/7|c.63+2978_63+2981delTGCG||||||,|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|2/7|c.63+2978_63+2981delTGCG||||||,|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|3/7|c.63+2978_63+2981delTGCG||||||,|upstream_gene_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000381551|protein_coding||c.-38_-38delTGCG|||||11|,|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000331163|protein_coding|1/6|c.63+2978_63+2981delTGCG||||||,|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000455790|protein_coding|1/4|c.-31+2003_-31+2006delTGCG||||||WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000440375|protein_coding|1/4|c.-31+90_-31+93delTGCG||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 39636926 . GCACA G,GCA,GCACACACA . . ANN=|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|1/7|c.63+2976_63+2979delTGTG||||||,|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|2/7|c.63+2976_63+2979delTGTG||||||,|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|3/7|c.63+2976_63+2979delTGTG||||||,|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|1/7|c.63+2976_63+2977delTG||||||,|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|2/7|c.63+2976_63+2977delTG||||||,|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|3/7|c.63+2976_63+2977delTG||||||,CACA|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|1/7|c.63+2972_63+2975dupTGTG||||||,CACA|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|2/7|c.63+2972_63+2975dupTGTG||||||,CACA|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|3/7|c.63+2972_63+2975dupTGTG||||||,|upstream_gene_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000381551|protein_coding||c.-38_-38delTGTG|||||13|,|upstream_gene_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000381551|protein_coding||c.-38_-38delTG|||||15|,CACA|upstream_gene_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000381551|protein_coding||c.-38_-38dupTGTG|||||17|,|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000331163|protein_coding|1/6|c.63+2976_63+2979delTGTG||||||,|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000331163|protein_coding|1/6|c.63+2976_63+2977delTG||||||,CACA|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000331163|protein_coding|1/6|c.63+2972_63+2975dupTGTG||||||,|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000455790|protein_coding|1/4|c.-31+2001_-31+2004delTGTG||||||WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000455790|protein_coding|1/4|c.-31+2001_-31+2002delTG||||||WARNING_TRANSCRIPT_INCOMPLETE,CACA|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000455790|protein_coding|1/4|c.-31+1997_-31+2000dupTGTG||||||WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000440375|protein_coding|1/4|c.-31+88_-31+91delTGTG||||||WARNING_TRANSCRIPT_NO_STOP_CODON,|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000440375|protein_coding|1/4|c.-31+88_-31+89delTG||||||WARNING_TRANSCRIPT_NO_STOP_CODON,CACA|intron_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000440375|protein_coding|1/4|c.-31+84_-31+87dupTGTG||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 39639934 . C A . . ANN=A|missense_variant|MODERATE|PDGFB|ENSG00000100311|transcript|ENST00000331163|protein_coding|1/7|c.35G>T|p.Cys12Phe|823/3497|35/726|12/241||,A|sequence_feature|LOW|PDGFB|ENSG00000100311|signal_peptide|ENST00000331163|protein_coding|1/7|c.35G>T||||||,A|upstream_gene_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000381551|protein_coding||c.-38G>T|||||3020|,A|upstream_gene_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000455790|protein_coding||c.-122G>T|||||913|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000440375|protein_coding||c.-149G>T|||||2799|WARNING_TRANSCRIPT_NO_STOP_CODON 22 39708899 . A G . . ANN=G|3_prime_UTR_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000216146|protein_coding|10/10|c.*46T>C|||||46|,G|3_prime_UTR_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000401609|protein_coding|9/9|c.*46T>C|||||46|,G|downstream_gene_variant|MODIFIER|SNORD83B|ENSG00000209480|transcript|ENST00000386745|snoRNA||n.*93T>C|||||925|,G|downstream_gene_variant|MODIFIER|SNORD83A|ENSG00000209482|transcript|ENST00000386747|snoRNA||n.*95T>C|||||2319|,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000402527|protein_coding||c.*1205T>C|||||813|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000481985|retained_intron||n.*557T>C|||||1037|,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000471290|processed_transcript||n.*481T>C|||||1256|,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000453303|protein_coding||c.*916T>C|||||1806|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484358|retained_intron||n.*557T>C|||||2468|,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000427905|protein_coding||c.*782T>C|||||2475|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000420536|nonsense_mediated_decay||n.*569T>C|||||2658|,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484615|retained_intron||n.*827T>C|||||4157|,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000460589|retained_intron||n.*630T>C|||||4502|,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000461967|retained_intron||n.*767T>C|||||4961|,G|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000464182|retained_intron|2/2|n.606T>C||||||,G|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000473638|retained_intron|2/2|n.513T>C||||||,G|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000465618|processed_transcript|10/10|n.2098T>C||||||,G|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000467105|retained_intron|3/3|n.1389T>C|||||| 22 39708926 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000216146|protein_coding|10/10|c.*19C>T|||||19|,A|3_prime_UTR_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000401609|protein_coding|9/9|c.*19C>T|||||19|,A|downstream_gene_variant|MODIFIER|SNORD83B|ENSG00000209480|transcript|ENST00000386745|snoRNA||n.*93C>T|||||898|,A|downstream_gene_variant|MODIFIER|SNORD83A|ENSG00000209482|transcript|ENST00000386747|snoRNA||n.*95C>T|||||2292|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000402527|protein_coding||c.*1205C>T|||||786|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000481985|retained_intron||n.*557C>T|||||1010|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000471290|processed_transcript||n.*481C>T|||||1229|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000453303|protein_coding||c.*916C>T|||||1779|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484358|retained_intron||n.*557C>T|||||2441|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000427905|protein_coding||c.*782C>T|||||2448|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000420536|nonsense_mediated_decay||n.*569C>T|||||2631|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484615|retained_intron||n.*827C>T|||||4130|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000460589|retained_intron||n.*630C>T|||||4475|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000461967|retained_intron||n.*767C>T|||||4934|,A|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000464182|retained_intron|2/2|n.579C>T||||||,A|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000473638|retained_intron|2/2|n.486C>T||||||,A|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000465618|processed_transcript|10/10|n.2071C>T||||||,A|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000467105|retained_intron|3/3|n.1362C>T|||||| 22 39708965 . C T . . ANN=T|missense_variant|MODERATE|RPL3|ENSG00000100316|transcript|ENST00000216146|protein_coding|10/10|c.1192G>A|p.Ala398Thr|1366/1442|1192/1212|398/403||,T|missense_variant|MODERATE|RPL3|ENSG00000100316|transcript|ENST00000401609|protein_coding|9/9|c.1036G>A|p.Ala346Thr|1211/1289|1036/1056|346/351||,T|downstream_gene_variant|MODIFIER|SNORD83B|ENSG00000209480|transcript|ENST00000386745|snoRNA||n.*93G>A|||||859|,T|downstream_gene_variant|MODIFIER|SNORD83A|ENSG00000209482|transcript|ENST00000386747|snoRNA||n.*95G>A|||||2253|,T|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000402527|protein_coding||c.*1205G>A|||||747|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000481985|retained_intron||n.*557G>A|||||971|,T|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000471290|processed_transcript||n.*481G>A|||||1190|,T|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000453303|protein_coding||c.*916G>A|||||1740|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484358|retained_intron||n.*557G>A|||||2402|,T|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000427905|protein_coding||c.*782G>A|||||2409|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000420536|nonsense_mediated_decay||n.*569G>A|||||2592|,T|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484615|retained_intron||n.*827G>A|||||4091|,T|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000460589|retained_intron||n.*630G>A|||||4436|,T|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000461967|retained_intron||n.*767G>A|||||4895|,T|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000464182|retained_intron|2/2|n.540G>A||||||,T|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000473638|retained_intron|2/2|n.447G>A||||||,T|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000465618|processed_transcript|10/10|n.2032G>A||||||,T|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000467105|retained_intron|3/3|n.1323G>A|||||| 22 39708996 . GGA G . . ANN=|splice_region_variant&intron_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000216146|protein_coding|9/9|c.1168-9_1168-8delTC||||||,|splice_region_variant&intron_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000401609|protein_coding|8/8|c.1012-9_1012-8delTC||||||,|splice_region_variant&intron_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000464182|retained_intron|1/1|n.516-9_516-8delTC||||||,|splice_region_variant&intron_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000465618|processed_transcript|9/9|n.2008-9_2008-8delTC||||||,|splice_region_variant&intron_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000467105|retained_intron|2/2|n.1299-9_1299-8delTC||||||,|downstream_gene_variant|MODIFIER|SNORD83B|ENSG00000209480|transcript|ENST00000386745|snoRNA||n.*93_*93delTC|||||827|,|downstream_gene_variant|MODIFIER|SNORD83A|ENSG00000209482|transcript|ENST00000386747|snoRNA||n.*95_*95delTC|||||2221|,|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000402527|protein_coding||c.*1205_*1205delTC|||||715|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000481985|retained_intron||n.*557_*557delTC|||||939|,|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000471290|processed_transcript||n.*481_*481delTC|||||1158|,|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000453303|protein_coding||c.*916_*916delTC|||||1708|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484358|retained_intron||n.*557_*557delTC|||||2370|,|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000427905|protein_coding||c.*782_*782delTC|||||2377|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000420536|nonsense_mediated_decay||n.*569_*569delTC|||||2560|,|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484615|retained_intron||n.*827_*827delTC|||||4059|,|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000460589|retained_intron||n.*630_*630delTC|||||4404|,|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000461967|retained_intron||n.*767_*767delTC|||||4863|,|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000473638|retained_intron|2/2|n.414_415delTC|||||| 22 39709003 . G C . . ANN=C|downstream_gene_variant|MODIFIER|SNORD83B|ENSG00000209480|transcript|ENST00000386745|snoRNA||n.*93C>G|||||821|,C|downstream_gene_variant|MODIFIER|SNORD83A|ENSG00000209482|transcript|ENST00000386747|snoRNA||n.*95C>G|||||2215|,C|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000402527|protein_coding||c.*1205C>G|||||709|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000481985|retained_intron||n.*557C>G|||||933|,C|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000471290|processed_transcript||n.*481C>G|||||1152|,C|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000453303|protein_coding||c.*916C>G|||||1702|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484358|retained_intron||n.*557C>G|||||2364|,C|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000427905|protein_coding||c.*782C>G|||||2371|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000420536|nonsense_mediated_decay||n.*569C>G|||||2554|,C|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484615|retained_intron||n.*827C>G|||||4053|,C|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000460589|retained_intron||n.*630C>G|||||4398|,C|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000461967|retained_intron||n.*767C>G|||||4857|,C|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000216146|protein_coding|9/9|c.1168-14C>G||||||,C|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000401609|protein_coding|8/8|c.1012-14C>G||||||,C|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000464182|retained_intron|1/1|n.516-14C>G||||||,C|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000465618|processed_transcript|9/9|n.2008-14C>G||||||,C|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000467105|retained_intron|2/2|n.1299-14C>G||||||,C|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000473638|retained_intron|2/2|n.409C>G|||||| 22 39709009 . G A . . ANN=A|downstream_gene_variant|MODIFIER|SNORD83B|ENSG00000209480|transcript|ENST00000386745|snoRNA||n.*93C>T|||||815|,A|downstream_gene_variant|MODIFIER|SNORD83A|ENSG00000209482|transcript|ENST00000386747|snoRNA||n.*95C>T|||||2209|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000402527|protein_coding||c.*1205C>T|||||703|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000481985|retained_intron||n.*557C>T|||||927|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000471290|processed_transcript||n.*481C>T|||||1146|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000453303|protein_coding||c.*916C>T|||||1696|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484358|retained_intron||n.*557C>T|||||2358|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000427905|protein_coding||c.*782C>T|||||2365|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000420536|nonsense_mediated_decay||n.*569C>T|||||2548|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484615|retained_intron||n.*827C>T|||||4047|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000460589|retained_intron||n.*630C>T|||||4392|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000461967|retained_intron||n.*767C>T|||||4851|,A|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000216146|protein_coding|9/9|c.1168-20C>T||||||,A|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000401609|protein_coding|8/8|c.1012-20C>T||||||,A|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000464182|retained_intron|1/1|n.516-20C>T||||||,A|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000465618|processed_transcript|9/9|n.2008-20C>T||||||,A|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000467105|retained_intron|2/2|n.1299-20C>T||||||,A|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000473638|retained_intron|2/2|n.403C>T|||||| 22 39709030 . G A . . ANN=A|downstream_gene_variant|MODIFIER|SNORD83B|ENSG00000209480|transcript|ENST00000386745|snoRNA||n.*93C>T|||||794|,A|downstream_gene_variant|MODIFIER|SNORD83A|ENSG00000209482|transcript|ENST00000386747|snoRNA||n.*95C>T|||||2188|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000402527|protein_coding||c.*1205C>T|||||682|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000481985|retained_intron||n.*557C>T|||||906|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000471290|processed_transcript||n.*481C>T|||||1125|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000453303|protein_coding||c.*916C>T|||||1675|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484358|retained_intron||n.*557C>T|||||2337|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000427905|protein_coding||c.*782C>T|||||2344|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000420536|nonsense_mediated_decay||n.*569C>T|||||2527|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484615|retained_intron||n.*827C>T|||||4026|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000460589|retained_intron||n.*630C>T|||||4371|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000461967|retained_intron||n.*767C>T|||||4830|,A|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000216146|protein_coding|9/9|c.1168-41C>T||||||,A|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000401609|protein_coding|8/8|c.1012-41C>T||||||,A|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000464182|retained_intron|1/1|n.516-41C>T||||||,A|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000465618|processed_transcript|9/9|n.2008-41C>T||||||,A|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000467105|retained_intron|2/2|n.1299-41C>T||||||,A|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000473638|retained_intron|2/2|n.382C>T|||||| 22 39709146 . G A . . ANN=A|downstream_gene_variant|MODIFIER|SNORD83B|ENSG00000209480|transcript|ENST00000386745|snoRNA||n.*93C>T|||||678|,A|downstream_gene_variant|MODIFIER|SNORD83A|ENSG00000209482|transcript|ENST00000386747|snoRNA||n.*95C>T|||||2072|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000402527|protein_coding||c.*1205C>T|||||566|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000481985|retained_intron||n.*557C>T|||||790|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000471290|processed_transcript||n.*481C>T|||||1009|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000453303|protein_coding||c.*916C>T|||||1559|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484358|retained_intron||n.*557C>T|||||2221|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000427905|protein_coding||c.*782C>T|||||2228|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000420536|nonsense_mediated_decay||n.*569C>T|||||2411|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484615|retained_intron||n.*827C>T|||||3910|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000460589|retained_intron||n.*630C>T|||||4255|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000461967|retained_intron||n.*767C>T|||||4714|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000498462|retained_intron||n.*669C>T|||||4971|,A|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000216146|protein_coding|9/9|c.1167+50C>T||||||,A|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000401609|protein_coding|8/8|c.1011+50C>T||||||,A|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000464182|retained_intron|1/1|n.515+50C>T||||||,A|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000465618|processed_transcript|9/9|n.2007+50C>T||||||,A|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000467105|retained_intron|2/2|n.1298+50C>T||||||,A|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000473638|retained_intron|2/2|n.266C>T|||||| 22 39709605 . G A . . ANN=A|downstream_gene_variant|MODIFIER|SNORD83B|ENSG00000209480|transcript|ENST00000386745|snoRNA||n.*93C>T|||||219|,A|downstream_gene_variant|MODIFIER|SNORD83A|ENSG00000209482|transcript|ENST00000386747|snoRNA||n.*95C>T|||||1613|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000402527|protein_coding||c.*1205C>T|||||107|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000481985|retained_intron||n.*557C>T|||||331|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000471290|processed_transcript||n.*481C>T|||||550|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000453303|protein_coding||c.*916C>T|||||1100|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484358|retained_intron||n.*557C>T|||||1762|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000427905|protein_coding||c.*782C>T|||||1769|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000420536|nonsense_mediated_decay||n.*569C>T|||||1952|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484615|retained_intron||n.*827C>T|||||3451|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000460589|retained_intron||n.*630C>T|||||3796|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000461967|retained_intron||n.*767C>T|||||4255|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000498462|retained_intron||n.*669C>T|||||4512|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000459859|processed_transcript||n.*447C>T|||||4800|,A|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000216146|protein_coding|8/9|c.1047+34C>T||||||,A|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000401609|protein_coding|7/8|c.891+34C>T||||||,A|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000473638|retained_intron|1/1|n.96+34C>T||||||,A|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000465618|processed_transcript|8/9|n.1887+34C>T||||||,A|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000464182|retained_intron|1/2|n.106C>T||||||,A|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000467105|retained_intron|2/3|n.889C>T|||||| 22 39709748 . A G . . ANN=G|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000464182|retained_intron||n.-1T>C|||||38|,G|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000473638|retained_intron||n.-1T>C|||||14|,G|downstream_gene_variant|MODIFIER|SNORD83B|ENSG00000209480|transcript|ENST00000386745|snoRNA||n.*93T>C|||||76|,G|downstream_gene_variant|MODIFIER|SNORD83A|ENSG00000209482|transcript|ENST00000386747|snoRNA||n.*95T>C|||||1470|,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000481985|retained_intron||n.*557T>C|||||188|,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000471290|processed_transcript||n.*481T>C|||||407|,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000453303|protein_coding||c.*916T>C|||||957|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484358|retained_intron||n.*557T>C|||||1619|,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000427905|protein_coding||c.*782T>C|||||1626|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000420536|nonsense_mediated_decay||n.*569T>C|||||1809|,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484615|retained_intron||n.*827T>C|||||3308|,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000460589|retained_intron||n.*630T>C|||||3653|,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000461967|retained_intron||n.*767T>C|||||4112|,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000498462|retained_intron||n.*669T>C|||||4369|,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000459859|processed_transcript||n.*447T>C|||||4657|,G|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000216146|protein_coding|7/9|c.952-14T>C||||||,G|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000401609|protein_coding|6/8|c.796-14T>C||||||,G|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000465618|processed_transcript|7/9|n.1792-14T>C||||||,G|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000402527|protein_coding|7/7|c.796-14T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000467105|retained_intron|2/3|n.746T>C|||||| 22 39709751 . G A . . ANN=A|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000464182|retained_intron||n.-1C>T|||||41|,A|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000473638|retained_intron||n.-1C>T|||||17|,A|downstream_gene_variant|MODIFIER|SNORD83B|ENSG00000209480|transcript|ENST00000386745|snoRNA||n.*93C>T|||||73|,A|downstream_gene_variant|MODIFIER|SNORD83A|ENSG00000209482|transcript|ENST00000386747|snoRNA||n.*95C>T|||||1467|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000481985|retained_intron||n.*557C>T|||||185|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000471290|processed_transcript||n.*481C>T|||||404|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000453303|protein_coding||c.*916C>T|||||954|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484358|retained_intron||n.*557C>T|||||1616|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000427905|protein_coding||c.*782C>T|||||1623|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000420536|nonsense_mediated_decay||n.*569C>T|||||1806|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484615|retained_intron||n.*827C>T|||||3305|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000460589|retained_intron||n.*630C>T|||||3650|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000461967|retained_intron||n.*767C>T|||||4109|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000498462|retained_intron||n.*669C>T|||||4366|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000459859|processed_transcript||n.*447C>T|||||4654|,A|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000216146|protein_coding|7/9|c.952-17C>T||||||,A|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000401609|protein_coding|6/8|c.796-17C>T||||||,A|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000465618|processed_transcript|7/9|n.1792-17C>T||||||,A|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000402527|protein_coding|7/7|c.796-17C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000467105|retained_intron|2/3|n.743C>T|||||| 22 39709759 . A ACAGGCCCAGCAC . . ANN=CAGGCCCAGCAC|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000464182|retained_intron||n.-1_-1insGTGCTGGGCCTG|||||50|,CAGGCCCAGCAC|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000473638|retained_intron||n.-1_-1insGTGCTGGGCCTG|||||26|,CAGGCCCAGCAC|downstream_gene_variant|MODIFIER|SNORD83B|ENSG00000209480|transcript|ENST00000386745|snoRNA||n.*93_*93insGTGCTGGGCCTG|||||64|,CAGGCCCAGCAC|downstream_gene_variant|MODIFIER|SNORD83A|ENSG00000209482|transcript|ENST00000386747|snoRNA||n.*95_*95insGTGCTGGGCCTG|||||1458|,CAGGCCCAGCAC|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000481985|retained_intron||n.*557_*557insGTGCTGGGCCTG|||||176|,CAGGCCCAGCAC|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000471290|processed_transcript||n.*481_*481insGTGCTGGGCCTG|||||395|,CAGGCCCAGCAC|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000453303|protein_coding||c.*916_*916insGTGCTGGGCCTG|||||945|WARNING_TRANSCRIPT_INCOMPLETE,CAGGCCCAGCAC|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484358|retained_intron||n.*557_*557insGTGCTGGGCCTG|||||1607|,CAGGCCCAGCAC|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000427905|protein_coding||c.*782_*782insGTGCTGGGCCTG|||||1614|WARNING_TRANSCRIPT_INCOMPLETE,CAGGCCCAGCAC|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000420536|nonsense_mediated_decay||n.*569_*569insGTGCTGGGCCTG|||||1797|,CAGGCCCAGCAC|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484615|retained_intron||n.*827_*827insGTGCTGGGCCTG|||||3296|,CAGGCCCAGCAC|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000460589|retained_intron||n.*630_*630insGTGCTGGGCCTG|||||3641|,CAGGCCCAGCAC|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000461967|retained_intron||n.*767_*767insGTGCTGGGCCTG|||||4100|,CAGGCCCAGCAC|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000498462|retained_intron||n.*669_*669insGTGCTGGGCCTG|||||4357|,CAGGCCCAGCAC|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000459859|processed_transcript||n.*447_*447insGTGCTGGGCCTG|||||4645|,CAGGCCCAGCAC|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000216146|protein_coding|7/9|c.952-26_952-25insGTGCTGGGCCTG||||||,CAGGCCCAGCAC|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000401609|protein_coding|6/8|c.796-26_796-25insGTGCTGGGCCTG||||||,CAGGCCCAGCAC|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000465618|processed_transcript|7/9|n.1792-26_1792-25insGTGCTGGGCCTG||||||,CAGGCCCAGCAC|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000402527|protein_coding|7/7|c.796-26_796-25insGTGCTGGGCCTG||||||WARNING_TRANSCRIPT_INCOMPLETE,CAGGCCCAGCAC|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000467105|retained_intron|2/3|n.734_735insGTGCTGGGCCTG|||||| 22 39709776 . T C . . ANN=C|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000464182|retained_intron||n.-1A>G|||||66|,C|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000473638|retained_intron||n.-1A>G|||||42|,C|downstream_gene_variant|MODIFIER|SNORD83B|ENSG00000209480|transcript|ENST00000386745|snoRNA||n.*93A>G|||||48|,C|downstream_gene_variant|MODIFIER|SNORD83A|ENSG00000209482|transcript|ENST00000386747|snoRNA||n.*95A>G|||||1442|,C|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000481985|retained_intron||n.*557A>G|||||160|,C|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000471290|processed_transcript||n.*481A>G|||||379|,C|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000453303|protein_coding||c.*916A>G|||||929|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484358|retained_intron||n.*557A>G|||||1591|,C|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000427905|protein_coding||c.*782A>G|||||1598|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000420536|nonsense_mediated_decay||n.*569A>G|||||1781|,C|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484615|retained_intron||n.*827A>G|||||3280|,C|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000460589|retained_intron||n.*630A>G|||||3625|,C|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000461967|retained_intron||n.*767A>G|||||4084|,C|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000498462|retained_intron||n.*669A>G|||||4341|,C|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000459859|processed_transcript||n.*447A>G|||||4629|,C|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000216146|protein_coding|7/9|c.952-42A>G||||||,C|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000401609|protein_coding|6/8|c.796-42A>G||||||,C|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000465618|processed_transcript|7/9|n.1792-42A>G||||||,C|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000402527|protein_coding|7/7|c.796-42A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000467105|retained_intron|2/3|n.718A>G|||||| 22 39710062 . A G . . ANN=G|upstream_gene_variant|MODIFIER|SNORD83B|ENSG00000209480|transcript|ENST00000386745|snoRNA||n.-1T>C|||||146|,G|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000464182|retained_intron||n.-1T>C|||||352|,G|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000473638|retained_intron||n.-1T>C|||||328|,G|downstream_gene_variant|MODIFIER|SNORD83A|ENSG00000209482|transcript|ENST00000386747|snoRNA||n.*95T>C|||||1156|,G|downstream_gene_variant|MODIFIER|SNORD43|ENSG00000263764|transcript|ENST00000583861|snoRNA||n.*64T>C|||||4993|,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000471290|processed_transcript||n.*481T>C|||||93|,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000453303|protein_coding||c.*916T>C|||||643|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484358|retained_intron||n.*557T>C|||||1305|,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000427905|protein_coding||c.*782T>C|||||1312|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000420536|nonsense_mediated_decay||n.*569T>C|||||1495|,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484615|retained_intron||n.*827T>C|||||2994|,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000460589|retained_intron||n.*630T>C|||||3339|,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000461967|retained_intron||n.*767T>C|||||3798|,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000498462|retained_intron||n.*669T>C|||||4055|,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000459859|processed_transcript||n.*447T>C|||||4343|,G|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000216146|protein_coding|7/9|c.951+50T>C||||||,G|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000401609|protein_coding|6/8|c.795+50T>C||||||,G|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000465618|processed_transcript|7/9|n.1791+50T>C||||||,G|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000402527|protein_coding|7/7|c.795+50T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000467105|retained_intron|2/3|n.432T>C||||||,G|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000481985|retained_intron|3/3|n.431T>C|||||| 22 39710104 . T TTAC . . ANN=TAC|splice_region_variant&intron_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000216146|protein_coding|7/9|c.951+5_951+7dupGTA||||||,TAC|splice_region_variant&intron_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000401609|protein_coding|6/8|c.795+5_795+7dupGTA||||||,TAC|splice_region_variant&intron_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000465618|processed_transcript|7/9|n.1791+5_1791+7dupGTA||||||,TAC|splice_region_variant&intron_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000402527|protein_coding|7/7|c.795+5_795+7dupGTA||||||WARNING_TRANSCRIPT_INCOMPLETE,TAC|upstream_gene_variant|MODIFIER|SNORD83B|ENSG00000209480|transcript|ENST00000386745|snoRNA||n.-1_-1dupGTA|||||189|,TAC|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000464182|retained_intron||n.-1_-1dupGTA|||||395|,TAC|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000473638|retained_intron||n.-1_-1dupGTA|||||371|,TAC|downstream_gene_variant|MODIFIER|SNORD83A|ENSG00000209482|transcript|ENST00000386747|snoRNA||n.*95_*95dupGTA|||||1113|,TAC|downstream_gene_variant|MODIFIER|SNORD43|ENSG00000263764|transcript|ENST00000583861|snoRNA||n.*64_*64dupGTA|||||4950|,TAC|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000471290|processed_transcript||n.*481_*481dupGTA|||||50|,TAC|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000453303|protein_coding||c.*916_*916dupGTA|||||600|WARNING_TRANSCRIPT_INCOMPLETE,TAC|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484358|retained_intron||n.*557_*557dupGTA|||||1262|,TAC|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000427905|protein_coding||c.*782_*782dupGTA|||||1269|WARNING_TRANSCRIPT_INCOMPLETE,TAC|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000420536|nonsense_mediated_decay||n.*569_*569dupGTA|||||1452|,TAC|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484615|retained_intron||n.*827_*827dupGTA|||||2951|,TAC|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000460589|retained_intron||n.*630_*630dupGTA|||||3296|,TAC|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000461967|retained_intron||n.*767_*767dupGTA|||||3755|,TAC|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000498462|retained_intron||n.*669_*669dupGTA|||||4012|,TAC|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000459859|processed_transcript||n.*447_*447dupGTA|||||4300|,TAC|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000467105|retained_intron|2/3|n.387_389dupGTA||||||,TAC|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000481985|retained_intron|3/3|n.386_388dupGTA|||||| 22 39710145 . G A . . ANN=A|synonymous_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000216146|protein_coding|7/10|c.918C>T|p.Asp306Asp|1092/1442|918/1212|306/403||,A|synonymous_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000401609|protein_coding|6/9|c.762C>T|p.Asp254Asp|937/1289|762/1056|254/351||,A|synonymous_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000402527|protein_coding|7/8|c.762C>T|p.Asp254Asp|1149/1205|762/818|254/271||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|SNORD83B|ENSG00000209480|transcript|ENST00000386745|snoRNA||n.-1C>T|||||229|,A|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000464182|retained_intron||n.-1C>T|||||435|,A|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000473638|retained_intron||n.-1C>T|||||411|,A|downstream_gene_variant|MODIFIER|SNORD83A|ENSG00000209482|transcript|ENST00000386747|snoRNA||n.*95C>T|||||1073|,A|downstream_gene_variant|MODIFIER|SNORD43|ENSG00000263764|transcript|ENST00000583861|snoRNA||n.*64C>T|||||4910|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000471290|processed_transcript||n.*481C>T|||||10|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000453303|protein_coding||c.*916C>T|||||560|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484358|retained_intron||n.*557C>T|||||1222|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000427905|protein_coding||c.*782C>T|||||1229|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000420536|nonsense_mediated_decay||n.*569C>T|||||1412|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484615|retained_intron||n.*827C>T|||||2911|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000460589|retained_intron||n.*630C>T|||||3256|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000461967|retained_intron||n.*767C>T|||||3715|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000498462|retained_intron||n.*669C>T|||||3972|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000459859|processed_transcript||n.*447C>T|||||4260|,A|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000465618|processed_transcript|7/10|n.1758C>T||||||,A|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000467105|retained_intron|2/3|n.349C>T||||||,A|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000481985|retained_intron|3/3|n.348C>T|||||| 22 39710211 . A G . . ANN=G|splice_region_variant&synonymous_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000216146|protein_coding|7/10|c.852T>C|p.Ile284Ile|1026/1442|852/1212|284/403||,G|splice_region_variant&synonymous_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000401609|protein_coding|6/9|c.696T>C|p.Ile232Ile|871/1289|696/1056|232/351||,G|splice_region_variant&non_coding_exon_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000465618|processed_transcript|7/10|n.1692T>C||||||,G|splice_region_variant&non_coding_exon_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000467105|retained_intron|2/3|n.283T>C||||||,G|splice_region_variant&synonymous_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000402527|protein_coding|7/8|c.696T>C|p.Ile232Ile|1083/1205|696/818|232/271||WARNING_TRANSCRIPT_INCOMPLETE,G|splice_region_variant&non_coding_exon_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000481985|retained_intron|3/3|n.282T>C||||||,G|upstream_gene_variant|MODIFIER|SNORD83B|ENSG00000209480|transcript|ENST00000386745|snoRNA||n.-1T>C|||||295|,G|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000464182|retained_intron||n.-1T>C|||||501|,G|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000473638|retained_intron||n.-1T>C|||||477|,G|downstream_gene_variant|MODIFIER|SNORD83A|ENSG00000209482|transcript|ENST00000386747|snoRNA||n.*95T>C|||||1007|,G|downstream_gene_variant|MODIFIER|SNORD43|ENSG00000263764|transcript|ENST00000583861|snoRNA||n.*64T>C|||||4844|,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000453303|protein_coding||c.*916T>C|||||494|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484358|retained_intron||n.*557T>C|||||1156|,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000427905|protein_coding||c.*782T>C|||||1163|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000420536|nonsense_mediated_decay||n.*569T>C|||||1346|,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484615|retained_intron||n.*827T>C|||||2845|,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000460589|retained_intron||n.*630T>C|||||3190|,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000461967|retained_intron||n.*767T>C|||||3649|,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000498462|retained_intron||n.*669T>C|||||3906|,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000459859|processed_transcript||n.*447T>C|||||4194|,G|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000471290|processed_transcript|3/3|n.425T>C|||||| 22 39710244 . G A . . ANN=A|upstream_gene_variant|MODIFIER|SNORD83B|ENSG00000209480|transcript|ENST00000386745|snoRNA||n.-1C>T|||||328|,A|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000464182|retained_intron||n.-1C>T|||||534|,A|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000473638|retained_intron||n.-1C>T|||||510|,A|downstream_gene_variant|MODIFIER|SNORD83A|ENSG00000209482|transcript|ENST00000386747|snoRNA||n.*95C>T|||||974|,A|downstream_gene_variant|MODIFIER|SNORD43|ENSG00000263764|transcript|ENST00000583861|snoRNA||n.*64C>T|||||4811|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000453303|protein_coding||c.*916C>T|||||461|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484358|retained_intron||n.*557C>T|||||1123|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000427905|protein_coding||c.*782C>T|||||1130|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000420536|nonsense_mediated_decay||n.*569C>T|||||1313|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484615|retained_intron||n.*827C>T|||||2812|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000460589|retained_intron||n.*630C>T|||||3157|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000461967|retained_intron||n.*767C>T|||||3616|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000498462|retained_intron||n.*669C>T|||||3873|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000459859|processed_transcript||n.*447C>T|||||4161|,A|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000216146|protein_coding|6/9|c.850-31C>T||||||,A|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000401609|protein_coding|5/8|c.694-31C>T||||||,A|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000465618|processed_transcript|6/9|n.1690-31C>T||||||,A|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000467105|retained_intron|1/2|n.281-31C>T||||||,A|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000402527|protein_coding|6/7|c.694-31C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000481985|retained_intron|2/2|n.280-31C>T||||||,A|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000471290|processed_transcript|3/3|n.392C>T|||||| 22 39710664 . C T . . ANN=T|upstream_gene_variant|MODIFIER|SNORD83B|ENSG00000209480|transcript|ENST00000386745|snoRNA||n.-1G>A|||||748|,T|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000464182|retained_intron||n.-1G>A|||||954|,T|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000473638|retained_intron||n.-1G>A|||||930|,T|downstream_gene_variant|MODIFIER|SNORD83A|ENSG00000209482|transcript|ENST00000386747|snoRNA||n.*95G>A|||||554|,T|downstream_gene_variant|MODIFIER|SNORD43|ENSG00000263764|transcript|ENST00000583861|snoRNA||n.*64G>A|||||4391|,T|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000453303|protein_coding||c.*916G>A|||||41|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484358|retained_intron||n.*557G>A|||||703|,T|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000427905|protein_coding||c.*782G>A|||||710|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000420536|nonsense_mediated_decay||n.*569G>A|||||893|,T|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484615|retained_intron||n.*827G>A|||||2392|,T|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000460589|retained_intron||n.*630G>A|||||2737|,T|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000461967|retained_intron||n.*767G>A|||||3196|,T|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000498462|retained_intron||n.*669G>A|||||3453|,T|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000459859|processed_transcript||n.*447G>A|||||3741|,T|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000216146|protein_coding|6/9|c.849+27G>A||||||,T|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000401609|protein_coding|5/8|c.693+27G>A||||||,T|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000465618|processed_transcript|6/9|n.1689+27G>A||||||,T|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000467105|retained_intron|1/2|n.280+27G>A||||||,T|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000402527|protein_coding|6/7|c.693+27G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000481985|retained_intron|2/2|n.279+27G>A||||||,T|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000471290|processed_transcript|2/2|n.222+27G>A|||||| 22 39710721 . G C . . ANN=C|synonymous_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000216146|protein_coding|6/10|c.819C>G|p.Gly273Gly|993/1442|819/1212|273/403||,C|synonymous_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000401609|protein_coding|5/9|c.663C>G|p.Gly221Gly|838/1289|663/1056|221/351||,C|synonymous_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000402527|protein_coding|6/8|c.663C>G|p.Gly221Gly|1050/1205|663/818|221/271||WARNING_TRANSCRIPT_INCOMPLETE,C|synonymous_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000453303|protein_coding|6/6|c.900C>G|p.Gly300Gly|900/916|900/916|300/304||WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|SNORD83B|ENSG00000209480|transcript|ENST00000386745|snoRNA||n.-1C>G|||||805|,C|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000464182|retained_intron||n.-1C>G|||||1011|,C|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000473638|retained_intron||n.-1C>G|||||987|,C|downstream_gene_variant|MODIFIER|SNORD83A|ENSG00000209482|transcript|ENST00000386747|snoRNA||n.*95C>G|||||497|,C|downstream_gene_variant|MODIFIER|SNORD43|ENSG00000263764|transcript|ENST00000583861|snoRNA||n.*64C>G|||||4334|,C|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484358|retained_intron||n.*557C>G|||||646|,C|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000427905|protein_coding||c.*782C>G|||||653|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000420536|nonsense_mediated_decay||n.*569C>G|||||836|,C|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484615|retained_intron||n.*827C>G|||||2335|,C|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000460589|retained_intron||n.*630C>G|||||2680|,C|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000461967|retained_intron||n.*767C>G|||||3139|,C|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000498462|retained_intron||n.*669C>G|||||3396|,C|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000459859|processed_transcript||n.*447C>G|||||3684|,C|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000465618|processed_transcript|6/10|n.1659C>G||||||,C|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000467105|retained_intron|1/3|n.250C>G||||||,C|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000481985|retained_intron|2/3|n.249C>G||||||,C|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000471290|processed_transcript|2/3|n.192C>G|||||| 22 39710793 . G A . . ANN=A|synonymous_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000216146|protein_coding|6/10|c.747C>T|p.Arg249Arg|921/1442|747/1212|249/403||,A|synonymous_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000401609|protein_coding|5/9|c.591C>T|p.Arg197Arg|766/1289|591/1056|197/351||,A|synonymous_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000402527|protein_coding|6/8|c.591C>T|p.Arg197Arg|978/1205|591/818|197/271||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000453303|protein_coding|6/6|c.828C>T|p.Arg276Arg|828/916|828/916|276/304||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|SNORD83B|ENSG00000209480|transcript|ENST00000386745|snoRNA||n.-1C>T|||||877|,A|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000464182|retained_intron||n.-1C>T|||||1083|,A|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000473638|retained_intron||n.-1C>T|||||1059|,A|downstream_gene_variant|MODIFIER|SNORD83A|ENSG00000209482|transcript|ENST00000386747|snoRNA||n.*95C>T|||||425|,A|downstream_gene_variant|MODIFIER|SNORD43|ENSG00000263764|transcript|ENST00000583861|snoRNA||n.*64C>T|||||4262|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484358|retained_intron||n.*557C>T|||||574|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000427905|protein_coding||c.*782C>T|||||581|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000420536|nonsense_mediated_decay||n.*569C>T|||||764|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484615|retained_intron||n.*827C>T|||||2263|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000460589|retained_intron||n.*630C>T|||||2608|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000461967|retained_intron||n.*767C>T|||||3067|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000498462|retained_intron||n.*669C>T|||||3324|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000459859|processed_transcript||n.*447C>T|||||3612|,A|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000465618|processed_transcript|6/10|n.1587C>T||||||,A|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000467105|retained_intron|1/3|n.178C>T||||||,A|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000481985|retained_intron|2/3|n.177C>T||||||,A|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000471290|processed_transcript|2/3|n.120C>T|||||| 22 39710867 . A G . . ANN=G|upstream_gene_variant|MODIFIER|SNORD83B|ENSG00000209480|transcript|ENST00000386745|snoRNA||n.-1T>C|||||951|,G|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000464182|retained_intron||n.-1T>C|||||1157|,G|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000473638|retained_intron||n.-1T>C|||||1133|,G|downstream_gene_variant|MODIFIER|SNORD83A|ENSG00000209482|transcript|ENST00000386747|snoRNA||n.*95T>C|||||351|,G|downstream_gene_variant|MODIFIER|SNORD43|ENSG00000263764|transcript|ENST00000583861|snoRNA||n.*64T>C|||||4188|,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484358|retained_intron||n.*557T>C|||||500|,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000427905|protein_coding||c.*782T>C|||||507|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000420536|nonsense_mediated_decay||n.*569T>C|||||690|,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484615|retained_intron||n.*827T>C|||||2189|,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000460589|retained_intron||n.*630T>C|||||2534|,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000461967|retained_intron||n.*767T>C|||||2993|,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000498462|retained_intron||n.*669T>C|||||3250|,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000459859|processed_transcript||n.*447T>C|||||3538|,G|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000216146|protein_coding|5/9|c.689-16T>C||||||,G|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000401609|protein_coding|4/8|c.533-16T>C||||||,G|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000465618|processed_transcript|5/9|n.1529-16T>C||||||,G|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000402527|protein_coding|5/7|c.533-16T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000481985|retained_intron|1/2|n.119-16T>C||||||,G|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000471290|processed_transcript|1/2|n.62-16T>C||||||,G|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000453303|protein_coding|5/5|c.770-16T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000467105|retained_intron|1/3|n.104T>C|||||| 22 39711351 . A G . . ANN=G|upstream_gene_variant|MODIFIER|SNORD83B|ENSG00000209480|transcript|ENST00000386745|snoRNA||n.-1T>C|||||1435|,G|upstream_gene_variant|MODIFIER|SNORD83A|ENSG00000209482|transcript|ENST00000386747|snoRNA||n.-1T>C|||||39|,G|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000464182|retained_intron||n.-1T>C|||||1641|,G|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000473638|retained_intron||n.-1T>C|||||1617|,G|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000467105|retained_intron||n.-1T>C|||||381|,G|downstream_gene_variant|MODIFIER|SNORD43|ENSG00000263764|transcript|ENST00000583861|snoRNA||n.*64T>C|||||3704|,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484358|retained_intron||n.*557T>C|||||16|,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000427905|protein_coding||c.*782T>C|||||23|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000420536|nonsense_mediated_decay||n.*569T>C|||||206|,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484615|retained_intron||n.*827T>C|||||1705|,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000460589|retained_intron||n.*630T>C|||||2050|,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000461967|retained_intron||n.*767T>C|||||2509|,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000498462|retained_intron||n.*669T>C|||||2766|,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000459859|processed_transcript||n.*447T>C|||||3054|,G|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000216146|protein_coding|5/9|c.688+23T>C||||||,G|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000401609|protein_coding|4/8|c.532+23T>C||||||,G|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000465618|processed_transcript|5/9|n.1528+23T>C||||||,G|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000402527|protein_coding|5/7|c.532+23T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000481985|retained_intron|1/2|n.118+23T>C||||||,G|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000471290|processed_transcript|1/2|n.61+23T>C||||||,G|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000453303|protein_coding|5/5|c.769+23T>C||||||WARNING_TRANSCRIPT_INCOMPLETE 22 39711362 . C CTT . . ANN=TT|upstream_gene_variant|MODIFIER|SNORD83B|ENSG00000209480|transcript|ENST00000386745|snoRNA||n.-1_-1insAA|||||1447|,TT|upstream_gene_variant|MODIFIER|SNORD83A|ENSG00000209482|transcript|ENST00000386747|snoRNA||n.-1_-1insAA|||||51|,TT|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000464182|retained_intron||n.-1_-1insAA|||||1653|,TT|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000473638|retained_intron||n.-1_-1insAA|||||1629|,TT|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000467105|retained_intron||n.-1_-1insAA|||||393|,TT|downstream_gene_variant|MODIFIER|SNORD43|ENSG00000263764|transcript|ENST00000583861|snoRNA||n.*64_*64insAA|||||3692|,TT|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484358|retained_intron||n.*557_*557insAA|||||4|,TT|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000427905|protein_coding||c.*782_*782insAA|||||11|WARNING_TRANSCRIPT_INCOMPLETE,TT|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000420536|nonsense_mediated_decay||n.*569_*569insAA|||||194|,TT|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484615|retained_intron||n.*827_*827insAA|||||1693|,TT|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000460589|retained_intron||n.*630_*630insAA|||||2038|,TT|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000461967|retained_intron||n.*767_*767insAA|||||2497|,TT|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000498462|retained_intron||n.*669_*669insAA|||||2754|,TT|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000459859|processed_transcript||n.*447_*447insAA|||||3042|,TT|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000216146|protein_coding|5/9|c.688+11_688+12insAA||||||,TT|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000401609|protein_coding|4/8|c.532+11_532+12insAA||||||,TT|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000465618|processed_transcript|5/9|n.1528+11_1528+12insAA||||||,TT|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000402527|protein_coding|5/7|c.532+11_532+12insAA||||||WARNING_TRANSCRIPT_INCOMPLETE,TT|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000481985|retained_intron|1/2|n.118+11_118+12insAA||||||,TT|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000471290|processed_transcript|1/2|n.61+11_61+12insAA||||||,TT|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000453303|protein_coding|5/5|c.769+11_769+12insAA||||||WARNING_TRANSCRIPT_INCOMPLETE 22 39711495 . A G . . ANN=G|synonymous_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000216146|protein_coding|5/10|c.567T>C|p.Thr189Thr|741/1442|567/1212|189/403||,G|synonymous_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000401609|protein_coding|4/9|c.411T>C|p.Thr137Thr|586/1289|411/1056|137/351||,G|synonymous_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000402527|protein_coding|5/8|c.411T>C|p.Thr137Thr|798/1205|411/818|137/271||WARNING_TRANSCRIPT_INCOMPLETE,G|synonymous_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000453303|protein_coding|5/6|c.648T>C|p.Thr216Thr|648/916|648/916|216/304||WARNING_TRANSCRIPT_INCOMPLETE,G|synonymous_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000427905|protein_coding|5/5|c.660T>C|p.Thr220Thr|661/782|660/781|220/259||WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|SNORD83B|ENSG00000209480|transcript|ENST00000386745|snoRNA||n.-1T>C|||||1579|,G|upstream_gene_variant|MODIFIER|SNORD83A|ENSG00000209482|transcript|ENST00000386747|snoRNA||n.-1T>C|||||183|,G|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000464182|retained_intron||n.-1T>C|||||1785|,G|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000473638|retained_intron||n.-1T>C|||||1761|,G|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000467105|retained_intron||n.-1T>C|||||525|,G|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000481985|retained_intron||n.-1T>C|||||4|,G|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000471290|processed_transcript||n.-1T>C|||||61|,G|downstream_gene_variant|MODIFIER|SNORD43|ENSG00000263764|transcript|ENST00000583861|snoRNA||n.*64T>C|||||3560|,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000420536|nonsense_mediated_decay||n.*569T>C|||||62|,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484615|retained_intron||n.*827T>C|||||1561|,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000460589|retained_intron||n.*630T>C|||||1906|,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000461967|retained_intron||n.*767T>C|||||2365|,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000498462|retained_intron||n.*669T>C|||||2622|,G|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000459859|processed_transcript||n.*447T>C|||||2910|,G|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000465618|processed_transcript|5/10|n.1407T>C||||||,G|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484358|retained_intron|2/2|n.429T>C|||||| 22 39711504 . G A . . ANN=A|synonymous_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000216146|protein_coding|5/10|c.558C>T|p.Asn186Asn|732/1442|558/1212|186/403||,A|synonymous_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000401609|protein_coding|4/9|c.402C>T|p.Asn134Asn|577/1289|402/1056|134/351||,A|synonymous_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000402527|protein_coding|5/8|c.402C>T|p.Asn134Asn|789/1205|402/818|134/271||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000453303|protein_coding|5/6|c.639C>T|p.Asn213Asn|639/916|639/916|213/304||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000427905|protein_coding|5/5|c.651C>T|p.Asn217Asn|652/782|651/781|217/259||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|SNORD83B|ENSG00000209480|transcript|ENST00000386745|snoRNA||n.-1C>T|||||1588|,A|upstream_gene_variant|MODIFIER|SNORD83A|ENSG00000209482|transcript|ENST00000386747|snoRNA||n.-1C>T|||||192|,A|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000464182|retained_intron||n.-1C>T|||||1794|,A|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000473638|retained_intron||n.-1C>T|||||1770|,A|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000467105|retained_intron||n.-1C>T|||||534|,A|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000481985|retained_intron||n.-1C>T|||||13|,A|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000471290|processed_transcript||n.-1C>T|||||70|,A|downstream_gene_variant|MODIFIER|SNORD43|ENSG00000263764|transcript|ENST00000583861|snoRNA||n.*64C>T|||||3551|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000420536|nonsense_mediated_decay||n.*569C>T|||||53|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484615|retained_intron||n.*827C>T|||||1552|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000460589|retained_intron||n.*630C>T|||||1897|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000461967|retained_intron||n.*767C>T|||||2356|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000498462|retained_intron||n.*669C>T|||||2613|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000459859|processed_transcript||n.*447C>T|||||2901|,A|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000465618|processed_transcript|5/10|n.1398C>T||||||,A|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484358|retained_intron|2/2|n.420C>T|||||| 22 39711574 . G GAC . . ANN=AC|upstream_gene_variant|MODIFIER|SNORD83B|ENSG00000209480|transcript|ENST00000386745|snoRNA||n.-1_-1dupGT|||||1659|,AC|upstream_gene_variant|MODIFIER|SNORD83A|ENSG00000209482|transcript|ENST00000386747|snoRNA||n.-1_-1dupGT|||||263|,AC|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000464182|retained_intron||n.-1_-1dupGT|||||1865|,AC|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000473638|retained_intron||n.-1_-1dupGT|||||1841|,AC|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000467105|retained_intron||n.-1_-1dupGT|||||605|,AC|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000481985|retained_intron||n.-1_-1dupGT|||||84|,AC|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000471290|processed_transcript||n.-1_-1dupGT|||||141|,AC|downstream_gene_variant|MODIFIER|SNORD43|ENSG00000263764|transcript|ENST00000583861|snoRNA||n.*64_*64dupGT|||||3480|,AC|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484615|retained_intron||n.*827_*827dupGT|||||1481|,AC|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000460589|retained_intron||n.*630_*630dupGT|||||1826|,AC|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000461967|retained_intron||n.*767_*767dupGT|||||2285|,AC|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000498462|retained_intron||n.*669_*669dupGT|||||2542|,AC|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000459859|processed_transcript||n.*447_*447dupGT|||||2830|,AC|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000216146|protein_coding|4/9|c.502-16_502-15dupGT||||||,AC|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000401609|protein_coding|3/8|c.346-16_346-15dupGT||||||,AC|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000465618|processed_transcript|4/9|n.1342-16_1342-15dupGT||||||,AC|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000402527|protein_coding|4/7|c.346-16_346-15dupGT||||||WARNING_TRANSCRIPT_INCOMPLETE,AC|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000453303|protein_coding|4/5|c.583-16_583-15dupGT||||||WARNING_TRANSCRIPT_INCOMPLETE,AC|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484358|retained_intron|1/1|n.364-16_364-15dupGT||||||,AC|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000427905|protein_coding|4/4|c.595-16_595-15dupGT||||||WARNING_TRANSCRIPT_INCOMPLETE,AC|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000420536|nonsense_mediated_decay|4/4|n.*139-16_*139-15dupGT|||||| 22 39712776 . G A . . ANN=A|synonymous_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000216146|protein_coding|4/10|c.436C>T|p.Leu146Leu|610/1442|436/1212|146/403||,A|synonymous_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000401609|protein_coding|3/9|c.280C>T|p.Leu94Leu|455/1289|280/1056|94/351||,A|synonymous_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000402527|protein_coding|4/8|c.280C>T|p.Leu94Leu|667/1205|280/818|94/271||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000453303|protein_coding|4/6|c.517C>T|p.Leu173Leu|517/916|517/916|173/304||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000427905|protein_coding|4/5|c.529C>T|p.Leu177Leu|530/782|529/781|177/259||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000420536|nonsense_mediated_decay|4/5|n.*73C>T|||||73|,A|upstream_gene_variant|MODIFIER|SNORD83B|ENSG00000209480|transcript|ENST00000386745|snoRNA||n.-1C>T|||||2860|,A|upstream_gene_variant|MODIFIER|SNORD83A|ENSG00000209482|transcript|ENST00000386747|snoRNA||n.-1C>T|||||1464|,A|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000464182|retained_intron||n.-1C>T|||||3066|,A|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000473638|retained_intron||n.-1C>T|||||3042|,A|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000467105|retained_intron||n.-1C>T|||||1806|,A|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000481985|retained_intron||n.-1C>T|||||1285|,A|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000471290|processed_transcript||n.-1C>T|||||1342|,A|downstream_gene_variant|MODIFIER|SNORD43|ENSG00000263764|transcript|ENST00000583861|snoRNA||n.*64C>T|||||2279|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484615|retained_intron||n.*827C>T|||||280|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000460589|retained_intron||n.*630C>T|||||625|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000461967|retained_intron||n.*767C>T|||||1084|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000498462|retained_intron||n.*669C>T|||||1341|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000459859|processed_transcript||n.*447C>T|||||1629|,A|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000465618|processed_transcript|4/10|n.1276C>T||||||,A|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484358|retained_intron|1/2|n.298C>T||||||,A|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000420536|nonsense_mediated_decay|4/5|n.*73C>T|||||| 22 39713419 . CAGCTCCCA C . . ANN=|upstream_gene_variant|MODIFIER|SNORD83B|ENSG00000209480|transcript|ENST00000386745|snoRNA||n.-1_-1delTGGGAGCT|||||3504|,|upstream_gene_variant|MODIFIER|SNORD83A|ENSG00000209482|transcript|ENST00000386747|snoRNA||n.-1_-1delTGGGAGCT|||||2108|,|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000464182|retained_intron||n.-1_-1delTGGGAGCT|||||3710|,|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000473638|retained_intron||n.-1_-1delTGGGAGCT|||||3686|,|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000467105|retained_intron||n.-1_-1delTGGGAGCT|||||2450|,|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000481985|retained_intron||n.-1_-1delTGGGAGCT|||||1929|,|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000471290|processed_transcript||n.-1_-1delTGGGAGCT|||||1986|,|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484358|retained_intron||n.-1_-1delTGGGAGCT|||||347|,|downstream_gene_variant|MODIFIER|SNORD43|ENSG00000263764|transcript|ENST00000583861|snoRNA||n.*64_*64delTGGGAGCT|||||1635|,|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000461967|retained_intron||n.*767_*767delTGGGAGCT|||||440|,|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000498462|retained_intron||n.*669_*669delTGGGAGCT|||||697|,|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000459859|processed_transcript||n.*447_*447delTGGGAGCT|||||985|,|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000216146|protein_coding|3/9|c.365+39_365+46delTGGGAGCT||||||,|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000401609|protein_coding|2/8|c.209+39_209+46delTGGGAGCT||||||,|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000465618|processed_transcript|3/9|n.1025+39_1025+46delTGGGAGCT||||||,|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000402527|protein_coding|3/7|c.209+39_209+46delTGGGAGCT||||||WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000453303|protein_coding|3/5|c.446+39_446+46delTGGGAGCT||||||WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000427905|protein_coding|3/4|c.458+39_458+46delTGGGAGCT||||||WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000420536|nonsense_mediated_decay|3/4|n.365+39_365+46delTGGGAGCT||||||,|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484615|retained_intron|3/3|n.456_463delTGGGAGCT||||||,|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000460589|retained_intron|3/3|n.604_611delTGGGAGCT|||||| 22 39713638 . C CA . . ANN=A|splice_region_variant&intron_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000216146|protein_coding|2/9|c.197-5dupT||||||,A|splice_region_variant&intron_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000401609|protein_coding|1/8|c.41-5dupT||||||,A|splice_region_variant&intron_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000465618|processed_transcript|2/9|n.857-5dupT||||||,A|splice_region_variant&intron_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000402527|protein_coding|2/7|c.41-5dupT||||||WARNING_TRANSCRIPT_INCOMPLETE,A|splice_region_variant&intron_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000453303|protein_coding|2/5|c.278-5dupT||||||WARNING_TRANSCRIPT_INCOMPLETE,A|splice_region_variant&intron_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000427905|protein_coding|2/4|c.290-5dupT||||||WARNING_TRANSCRIPT_INCOMPLETE,A|splice_region_variant&intron_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000420536|nonsense_mediated_decay|2/4|n.197-5dupT||||||,A|splice_region_variant&intron_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000484615|retained_intron|2/2|n.249-5dupT||||||,A|splice_region_variant&intron_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000460589|retained_intron|2/2|n.397-5dupT||||||,A|upstream_gene_variant|MODIFIER|SNORD83B|ENSG00000209480|transcript|ENST00000386745|snoRNA||n.-1dupT|||||3723|,A|upstream_gene_variant|MODIFIER|SNORD83A|ENSG00000209482|transcript|ENST00000386747|snoRNA||n.-1dupT|||||2327|,A|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000464182|retained_intron||n.-1dupT|||||3929|,A|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000473638|retained_intron||n.-1dupT|||||3905|,A|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000467105|retained_intron||n.-1dupT|||||2669|,A|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000481985|retained_intron||n.-1dupT|||||2148|,A|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000471290|processed_transcript||n.-1dupT|||||2205|,A|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484358|retained_intron||n.-1dupT|||||566|,A|downstream_gene_variant|MODIFIER|SNORD43|ENSG00000263764|transcript|ENST00000583861|snoRNA||n.*64dupT|||||1416|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000461967|retained_intron||n.*767dupT|||||221|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000498462|retained_intron||n.*669dupT|||||478|,A|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000459859|processed_transcript||n.*447dupT|||||766| 22 39714394 . T C . . ANN=C|upstream_gene_variant|MODIFIER|SNORD83B|ENSG00000209480|transcript|ENST00000386745|snoRNA||n.-1A>G|||||4478|,C|upstream_gene_variant|MODIFIER|SNORD83A|ENSG00000209482|transcript|ENST00000386747|snoRNA||n.-1A>G|||||3082|,C|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000464182|retained_intron||n.-1A>G|||||4684|,C|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000473638|retained_intron||n.-1A>G|||||4660|,C|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000467105|retained_intron||n.-1A>G|||||3424|,C|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000481985|retained_intron||n.-1A>G|||||2903|,C|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000471290|processed_transcript||n.-1A>G|||||2960|,C|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484358|retained_intron||n.-1A>G|||||1321|,C|downstream_gene_variant|MODIFIER|SNORD43|ENSG00000263764|transcript|ENST00000583861|snoRNA||n.*64A>G|||||661|,C|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000459859|processed_transcript||n.*447A>G|||||11|,C|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000216146|protein_coding|2/9|c.196+11A>G||||||,C|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000401609|protein_coding|1/8|c.40+11A>G||||||,C|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000465618|processed_transcript|2/9|n.856+11A>G||||||,C|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000402527|protein_coding|2/7|c.40+11A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000453303|protein_coding|2/5|c.277+11A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000427905|protein_coding|2/4|c.289+11A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000420536|nonsense_mediated_decay|2/4|n.196+11A>G||||||,C|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484615|retained_intron|2/2|n.248+11A>G||||||,C|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000460589|retained_intron|2/2|n.396+11A>G||||||,C|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000461967|retained_intron|2/2|n.233A>G||||||,C|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000498462|retained_intron|2/2|n.392A>G|||||| 22 39714580 . G A . . ANN=A|synonymous_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000216146|protein_coding|2/10|c.21C>T|p.Ser7Ser|195/1442|21/1212|7/403||,A|synonymous_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000453303|protein_coding|2/6|c.102C>T|p.Ser34Ser|102/916|102/916|34/304||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000427905|protein_coding|2/5|c.114C>T|p.Ser38Ser|115/782|114/781|38/259||WARNING_TRANSCRIPT_INCOMPLETE,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000401609|protein_coding|1/9|c.-136C>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000402527|protein_coding|2/8|c.-136C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|5_prime_UTR_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000401609|protein_coding|1/9|c.-136C>T|||||136|,A|5_prime_UTR_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000402527|protein_coding|2/8|c.-136C>T|||||136|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|SNORD83B|ENSG00000209480|transcript|ENST00000386745|snoRNA||n.-1C>T|||||4664|,A|upstream_gene_variant|MODIFIER|SNORD83A|ENSG00000209482|transcript|ENST00000386747|snoRNA||n.-1C>T|||||3268|,A|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000464182|retained_intron||n.-1C>T|||||4870|,A|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000473638|retained_intron||n.-1C>T|||||4846|,A|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000467105|retained_intron||n.-1C>T|||||3610|,A|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000481985|retained_intron||n.-1C>T|||||3089|,A|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000471290|processed_transcript||n.-1C>T|||||3146|,A|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484358|retained_intron||n.-1C>T|||||1507|,A|downstream_gene_variant|MODIFIER|SNORD43|ENSG00000263764|transcript|ENST00000583861|snoRNA||n.*64C>T|||||475|,A|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000465618|processed_transcript|2/10|n.681C>T||||||,A|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000420536|nonsense_mediated_decay|2/5|n.21C>T||||||,A|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484615|retained_intron|2/3|n.73C>T||||||,A|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000460589|retained_intron|2/3|n.221C>T||||||,A|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000461967|retained_intron|2/2|n.47C>T||||||,A|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000498462|retained_intron|2/2|n.206C>T||||||,A|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000459859|processed_transcript|2/2|n.272C>T|||||| 22 39714606 . G GA . . ANN=A|5_prime_UTR_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000401609|protein_coding|1/9|c.-163dupT|||||163|,A|upstream_gene_variant|MODIFIER|SNORD83B|ENSG00000209480|transcript|ENST00000386745|snoRNA||n.-1dupT|||||4691|,A|upstream_gene_variant|MODIFIER|SNORD83A|ENSG00000209482|transcript|ENST00000386747|snoRNA||n.-1dupT|||||3295|,A|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000464182|retained_intron||n.-1dupT|||||4897|,A|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000473638|retained_intron||n.-1dupT|||||4873|,A|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000467105|retained_intron||n.-1dupT|||||3637|,A|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000481985|retained_intron||n.-1dupT|||||3116|,A|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000471290|processed_transcript||n.-1dupT|||||3173|,A|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484358|retained_intron||n.-1dupT|||||1534|,A|downstream_gene_variant|MODIFIER|SNORD43|ENSG00000263764|transcript|ENST00000583861|snoRNA||n.*64dupT|||||448|,A|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000216146|protein_coding|1/9|c.4-10dupT||||||,A|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000465618|processed_transcript|1/9|n.664-10dupT||||||,A|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000402527|protein_coding|1/7|c.-153-10dupT||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000453303|protein_coding|1/5|c.85-10dupT||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000427905|protein_coding|1/4|c.97-10dupT||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000420536|nonsense_mediated_decay|1/4|n.4-10dupT||||||,A|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484615|retained_intron|1/2|n.56-10dupT||||||,A|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000460589|retained_intron|1/2|n.204-10dupT||||||,A|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000461967|retained_intron|1/1|n.30-10dupT||||||,A|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000498462|retained_intron|1/1|n.189-10dupT||||||,A|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000459859|processed_transcript|1/1|n.255-10dupT|||||| 22 39715592 . A G . . ANN=G|missense_variant|MODERATE|RPL3|ENSG00000100316|transcript|ENST00000427905|protein_coding|1/5|c.8T>C|p.Val3Ala|9/782|8/781|3/259||WARNING_TRANSCRIPT_INCOMPLETE,G|splice_region_variant&intron_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000216146|protein_coding|1/9|c.3+8T>C||||||,G|splice_region_variant&intron_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000420536|nonsense_mediated_decay|1/4|n.3+8T>C||||||,G|splice_region_variant&intron_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000484615|retained_intron|1/2|n.55+8T>C||||||,G|splice_region_variant&intron_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000461967|retained_intron|1/1|n.29+8T>C||||||,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000402527|protein_coding|1/8|c.-351T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|5_prime_UTR_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000402527|protein_coding|1/8|c.-351T>C|||||1148|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|SNORD83A|ENSG00000209482|transcript|ENST00000386747|snoRNA||n.-1T>C|||||4280|,G|upstream_gene_variant|MODIFIER|SNORD43|ENSG00000263764|transcript|ENST00000583861|snoRNA||n.-1T>C|||||474|,G|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000401609|protein_coding||c.-176T>C|||||973|,G|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000467105|retained_intron||n.-1T>C|||||4622|,G|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000481985|retained_intron||n.-1T>C|||||4101|,G|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000471290|processed_transcript||n.-1T>C|||||4158|,G|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000453303|protein_coding||c.-1T>C|||||476|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484358|retained_intron||n.-1T>C|||||2519|,G|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000498462|retained_intron||n.-1T>C|||||10|,G|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000465618|processed_transcript|1/9|n.663+140T>C||||||,G|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000460589|retained_intron|1/3|n.6T>C||||||,G|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000459859|processed_transcript|1/2|n.39T>C|||||| 22 39715593 . C G . . ANN=G|missense_variant|MODERATE|RPL3|ENSG00000100316|transcript|ENST00000427905|protein_coding|1/5|c.7G>C|p.Val3Leu|8/782|7/781|3/259||WARNING_TRANSCRIPT_INCOMPLETE,G|splice_region_variant&intron_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000216146|protein_coding|1/9|c.3+7G>C||||||,G|splice_region_variant&intron_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000420536|nonsense_mediated_decay|1/4|n.3+7G>C||||||,G|splice_region_variant&intron_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000484615|retained_intron|1/2|n.55+7G>C||||||,G|splice_region_variant&intron_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000461967|retained_intron|1/1|n.29+7G>C||||||,G|5_prime_UTR_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000402527|protein_coding|1/8|c.-352G>C|||||1149|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|SNORD83A|ENSG00000209482|transcript|ENST00000386747|snoRNA||n.-1G>C|||||4281|,G|upstream_gene_variant|MODIFIER|SNORD43|ENSG00000263764|transcript|ENST00000583861|snoRNA||n.-1G>C|||||475|,G|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000401609|protein_coding||c.-176G>C|||||974|,G|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000467105|retained_intron||n.-1G>C|||||4623|,G|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000481985|retained_intron||n.-1G>C|||||4102|,G|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000471290|processed_transcript||n.-1G>C|||||4159|,G|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000453303|protein_coding||c.-1G>C|||||477|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484358|retained_intron||n.-1G>C|||||2520|,G|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000498462|retained_intron||n.-1G>C|||||11|,G|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000465618|processed_transcript|1/9|n.663+139G>C||||||,G|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000460589|retained_intron|1/3|n.5G>C||||||,G|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000459859|processed_transcript|1/2|n.38G>C|||||| 22 39715606 . G A . . ANN=A|TF_binding_site_variant|LOW|||Yy1|MA0095.1|||||||||,A|5_prime_UTR_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000216146|protein_coding|1/10|c.-4C>T|||||4|,A|5_prime_UTR_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000402527|protein_coding|1/8|c.-365C>T|||||1162|WARNING_TRANSCRIPT_INCOMPLETE,A|5_prime_UTR_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000420536|nonsense_mediated_decay|1/5|n.-4C>T|||||4|,A|upstream_gene_variant|MODIFIER|SNORD83A|ENSG00000209482|transcript|ENST00000386747|snoRNA||n.-1C>T|||||4294|,A|upstream_gene_variant|MODIFIER|SNORD43|ENSG00000263764|transcript|ENST00000583861|snoRNA||n.-1C>T|||||488|,A|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000401609|protein_coding||c.-176C>T|||||987|,A|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000467105|retained_intron||n.-1C>T|||||4636|,A|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000481985|retained_intron||n.-1C>T|||||4115|,A|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000471290|processed_transcript||n.-1C>T|||||4172|,A|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000453303|protein_coding||c.-1C>T|||||490|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484358|retained_intron||n.-1C>T|||||2533|,A|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000427905|protein_coding||c.-2C>T|||||6|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000460589|retained_intron||n.-1C>T|||||9|,A|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000498462|retained_intron||n.-1C>T|||||24|,A|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000465618|processed_transcript|1/9|n.663+126C>T||||||,A|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000420536|nonsense_mediated_decay|1/5|n.-4C>T||||||,A|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484615|retained_intron|1/3|n.49C>T||||||,A|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000461967|retained_intron|1/2|n.23C>T||||||,A|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000459859|processed_transcript|1/2|n.25C>T|||||| 22 39715608 . C T . . ANN=T|TF_binding_site_variant|LOW|||Yy1|MA0095.1|||||||||,T|5_prime_UTR_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000216146|protein_coding|1/10|c.-6G>A|||||6|,T|5_prime_UTR_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000402527|protein_coding|1/8|c.-367G>A|||||1164|WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000420536|nonsense_mediated_decay|1/5|n.-6G>A|||||6|,T|upstream_gene_variant|MODIFIER|SNORD83A|ENSG00000209482|transcript|ENST00000386747|snoRNA||n.-1G>A|||||4296|,T|upstream_gene_variant|MODIFIER|SNORD43|ENSG00000263764|transcript|ENST00000583861|snoRNA||n.-1G>A|||||490|,T|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000401609|protein_coding||c.-176G>A|||||989|,T|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000467105|retained_intron||n.-1G>A|||||4638|,T|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000481985|retained_intron||n.-1G>A|||||4117|,T|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000471290|processed_transcript||n.-1G>A|||||4174|,T|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000453303|protein_coding||c.-1G>A|||||492|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484358|retained_intron||n.-1G>A|||||2535|,T|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000427905|protein_coding||c.-2G>A|||||8|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000460589|retained_intron||n.-1G>A|||||11|,T|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000498462|retained_intron||n.-1G>A|||||26|,T|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000465618|processed_transcript|1/9|n.663+124G>A||||||,T|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000420536|nonsense_mediated_decay|1/5|n.-6G>A||||||,T|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484615|retained_intron|1/3|n.47G>A||||||,T|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000461967|retained_intron|1/2|n.21G>A||||||,T|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000459859|processed_transcript|1/2|n.23G>A|||||| 22 39715639 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000216146|protein_coding|1/10|c.-37G>A|||||37|,T|upstream_gene_variant|MODIFIER|SNORD83A|ENSG00000209482|transcript|ENST00000386747|snoRNA||n.-1G>A|||||4327|,T|upstream_gene_variant|MODIFIER|SNORD43|ENSG00000263764|transcript|ENST00000583861|snoRNA||n.-1G>A|||||521|,T|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000401609|protein_coding||c.-176G>A|||||1020|,T|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000467105|retained_intron||n.-1G>A|||||4669|,T|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000402527|protein_coding||c.-388G>A|||||11|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000481985|retained_intron||n.-1G>A|||||4148|,T|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000471290|processed_transcript||n.-1G>A|||||4205|,T|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000453303|protein_coding||c.-1G>A|||||523|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484358|retained_intron||n.-1G>A|||||2566|,T|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000427905|protein_coding||c.-2G>A|||||39|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000420536|nonsense_mediated_decay||n.-27G>A|||||11|,T|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000460589|retained_intron||n.-1G>A|||||42|,T|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000461967|retained_intron||n.-1G>A|||||11|,T|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000498462|retained_intron||n.-1G>A|||||57|,T|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000459859|processed_transcript||n.-1G>A|||||9|,T|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000465618|processed_transcript|1/9|n.663+93G>A||||||,T|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484615|retained_intron|1/3|n.16G>A|||||| 22 39760172 . G A . . ANN=A|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|2/4|c.100-10149G>A||||||,A|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|1/4|c.100-10149G>A||||||,A|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|3/4|c.100-10149G>A||||||,A|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|4/4|c.100-10149G>A||||||,A|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000328933|protein_coding|2/4|c.100-10149G>A||||||,A|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000328933|protein_coding|1/4|c.100-10149G>A||||||,A|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000318801|protein_coding|2/4|c.100-10149G>A||||||,A|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000318801|protein_coding|1/4|c.100-10149G>A||||||,A|upstream_gene_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000381535|protein_coding||c.-26G>A|||||3|,A|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000328933|protein_coding|1/3|c.100-10149G>A||||||,A|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000318801|protein_coding|1/3|c.100-10149G>A||||||,A|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000216155|protein_coding|1/2|c.100-10149G>A||||||,A|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000415332|nonsense_mediated_decay|1/3|n.100-10149G>A||||||,A|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000406293|protein_coding|1/3|c.100-10149G>A||||||,A|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000489206|retained_intron|1/1|n.105-10149G>A|||||| 22 39760211 . A C . . ANN=C|missense_variant|MODERATE|SYNGR1|ENSG00000100321|transcript|ENST00000381535|protein_coding|1/4|c.12A>C|p.Leu4Phe|37/1295|12/579|4/192||,C|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|2/4|c.100-10110A>C||||||,C|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|1/4|c.100-10110A>C||||||,C|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|3/4|c.100-10110A>C||||||,C|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|4/4|c.100-10110A>C||||||,C|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000328933|protein_coding|2/4|c.100-10110A>C||||||,C|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000328933|protein_coding|1/4|c.100-10110A>C||||||,C|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000318801|protein_coding|2/4|c.100-10110A>C||||||,C|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000318801|protein_coding|1/4|c.100-10110A>C||||||,C|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000328933|protein_coding|1/3|c.100-10110A>C||||||,C|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000318801|protein_coding|1/3|c.100-10110A>C||||||,C|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000216155|protein_coding|1/2|c.100-10110A>C||||||,C|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000415332|nonsense_mediated_decay|1/3|n.100-10110A>C||||||,C|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000406293|protein_coding|1/3|c.100-10110A>C||||||,C|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000489206|retained_intron|1/1|n.105-10110A>C|||||| 22 39760267 . C A . . ANN=A|stop_gained|HIGH|SYNGR1|ENSG00000100321|transcript|ENST00000381535|protein_coding|1/4|c.68C>A|p.Ser23*|93/1295|68/579|23/192||,A|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|2/4|c.100-10054C>A||||||,A|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|1/4|c.100-10054C>A||||||,A|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|3/4|c.100-10054C>A||||||,A|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|4/4|c.100-10054C>A||||||,A|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000328933|protein_coding|2/4|c.100-10054C>A||||||,A|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000328933|protein_coding|1/4|c.100-10054C>A||||||,A|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000318801|protein_coding|2/4|c.100-10054C>A||||||,A|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000318801|protein_coding|1/4|c.100-10054C>A||||||,A|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000328933|protein_coding|1/3|c.100-10054C>A||||||,A|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000318801|protein_coding|1/3|c.100-10054C>A||||||,A|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000216155|protein_coding|1/2|c.100-10054C>A||||||,A|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000415332|nonsense_mediated_decay|1/3|n.100-10054C>A||||||,A|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000406293|protein_coding|1/3|c.100-10054C>A||||||,A|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000489206|retained_intron|1/1|n.105-10054C>A||||||;LOF=(SYNGR1|ENSG00000100321|7|0.14);NMD=(SYNGR1|ENSG00000100321|7|0.14) 22 39760275 . A G . . ANN=G|missense_variant|MODERATE|SYNGR1|ENSG00000100321|transcript|ENST00000381535|protein_coding|1/4|c.76A>G|p.Ser26Gly|101/1295|76/579|26/192||,G|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|2/4|c.100-10046A>G||||||,G|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|1/4|c.100-10046A>G||||||,G|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|3/4|c.100-10046A>G||||||,G|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|4/4|c.100-10046A>G||||||,G|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000328933|protein_coding|2/4|c.100-10046A>G||||||,G|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000328933|protein_coding|1/4|c.100-10046A>G||||||,G|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000318801|protein_coding|2/4|c.100-10046A>G||||||,G|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000318801|protein_coding|1/4|c.100-10046A>G||||||,G|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000328933|protein_coding|1/3|c.100-10046A>G||||||,G|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000318801|protein_coding|1/3|c.100-10046A>G||||||,G|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000216155|protein_coding|1/2|c.100-10046A>G||||||,G|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000415332|nonsense_mediated_decay|1/3|n.100-10046A>G||||||,G|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000406293|protein_coding|1/3|c.100-10046A>G||||||,G|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000489206|retained_intron|1/1|n.105-10046A>G|||||| 22 39760314 . T TTTAC . . ANN=TTAC|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|2/4|c.100-10007_100-10006insTTAC||||||,TTAC|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|1/4|c.100-10007_100-10006insTTAC||||||,TTAC|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|3/4|c.100-10007_100-10006insTTAC||||||,TTAC|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|4/4|c.100-10007_100-10006insTTAC||||||,TTAC|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000328933|protein_coding|2/4|c.100-10007_100-10006insTTAC||||||,TTAC|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000328933|protein_coding|1/4|c.100-10007_100-10006insTTAC||||||,TTAC|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000318801|protein_coding|2/4|c.100-10007_100-10006insTTAC||||||,TTAC|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000318801|protein_coding|1/4|c.100-10007_100-10006insTTAC||||||,TTAC|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000328933|protein_coding|1/3|c.100-10007_100-10006insTTAC||||||,TTAC|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000318801|protein_coding|1/3|c.100-10007_100-10006insTTAC||||||,TTAC|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000216155|protein_coding|1/2|c.100-10007_100-10006insTTAC||||||,TTAC|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000415332|nonsense_mediated_decay|1/3|n.100-10007_100-10006insTTAC||||||,TTAC|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000406293|protein_coding|1/3|c.100-10007_100-10006insTTAC||||||,TTAC|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000489206|retained_intron|1/1|n.105-10007_105-10006insTTAC||||||,TTAC|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000381535|protein_coding|1/3|c.102+13_102+14insTTAC|||||| 22 39760344 . C G . . ANN=G|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|2/4|c.100-9977C>G||||||,G|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|1/4|c.100-9977C>G||||||,G|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|3/4|c.100-9977C>G||||||,G|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|4/4|c.100-9977C>G||||||,G|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000328933|protein_coding|2/4|c.100-9977C>G||||||,G|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000328933|protein_coding|1/4|c.100-9977C>G||||||,G|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000318801|protein_coding|2/4|c.100-9977C>G||||||,G|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000318801|protein_coding|1/4|c.100-9977C>G||||||,G|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000328933|protein_coding|1/3|c.100-9977C>G||||||,G|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000318801|protein_coding|1/3|c.100-9977C>G||||||,G|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000216155|protein_coding|1/2|c.100-9977C>G||||||,G|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000415332|nonsense_mediated_decay|1/3|n.100-9977C>G||||||,G|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000406293|protein_coding|1/3|c.100-9977C>G||||||,G|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000489206|retained_intron|1/1|n.105-9977C>G||||||,G|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000381535|protein_coding|1/3|c.102+43C>G|||||| 22 39770380 . C T . . ANN=T|synonymous_variant|LOW|SYNGR1|ENSG00000100321|transcript|ENST00000328933|protein_coding|2/4|c.159C>T|p.Ser53Ser|174/4391|159/702|53/233||,T|synonymous_variant|LOW|SYNGR1|ENSG00000100321|transcript|ENST00000318801|protein_coding|2/4|c.159C>T|p.Ser53Ser|245/1353|159/576|53/191||,T|synonymous_variant|LOW|SYNGR1|ENSG00000100321|transcript|ENST00000216155|protein_coding|2/3|c.159C>T|p.Ser53Ser|221/497|159/357|53/118||,T|synonymous_variant|LOW|SYNGR1|ENSG00000100321|transcript|ENST00000406293|protein_coding|2/4|c.159C>T|p.Ser53Ser|179/564|159/510|53/169||,T|synonymous_variant|LOW|SYNGR1|ENSG00000100321|transcript|ENST00000381535|protein_coding|2/4|c.162C>T|p.Ser54Ser|187/1295|162/579|54/192||,T|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|2/4|c.159C>T||||||,T|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|1/4|c.159C>T||||||,T|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|3/4|c.159C>T||||||,T|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|4/4|c.159C>T||||||,T|non_coding_exon_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000415332|nonsense_mediated_decay|2/4|n.159C>T||||||,T|non_coding_exon_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000489206|retained_intron|2/2|n.164C>T|||||| 22 39770500 . G A . . ANN=A|synonymous_variant|LOW|SYNGR1|ENSG00000100321|transcript|ENST00000328933|protein_coding|2/4|c.279G>A|p.Pro93Pro|294/4391|279/702|93/233||,A|synonymous_variant|LOW|SYNGR1|ENSG00000100321|transcript|ENST00000318801|protein_coding|2/4|c.279G>A|p.Pro93Pro|365/1353|279/576|93/191||,A|synonymous_variant|LOW|SYNGR1|ENSG00000100321|transcript|ENST00000216155|protein_coding|2/3|c.279G>A|p.Pro93Pro|341/497|279/357|93/118||,A|synonymous_variant|LOW|SYNGR1|ENSG00000100321|transcript|ENST00000406293|protein_coding|2/4|c.279G>A|p.Pro93Pro|299/564|279/510|93/169||,A|synonymous_variant|LOW|SYNGR1|ENSG00000100321|transcript|ENST00000381535|protein_coding|2/4|c.282G>A|p.Pro94Pro|307/1295|282/579|94/192||,A|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|2/4|c.279G>A||||||,A|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|1/4|c.279G>A||||||,A|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|3/4|c.279G>A||||||,A|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|4/4|c.279G>A||||||,A|non_coding_exon_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000415332|nonsense_mediated_decay|2/4|n.279G>A||||||,A|non_coding_exon_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000489206|retained_intron|2/2|n.284G>A|||||| 22 39770507 . A G . . ANN=G|missense_variant|MODERATE|SYNGR1|ENSG00000100321|transcript|ENST00000328933|protein_coding|2/4|c.286A>G|p.Ser96Gly|301/4391|286/702|96/233||,G|missense_variant|MODERATE|SYNGR1|ENSG00000100321|transcript|ENST00000318801|protein_coding|2/4|c.286A>G|p.Ser96Gly|372/1353|286/576|96/191||,G|missense_variant|MODERATE|SYNGR1|ENSG00000100321|transcript|ENST00000216155|protein_coding|2/3|c.286A>G|p.Ser96Gly|348/497|286/357|96/118||,G|missense_variant|MODERATE|SYNGR1|ENSG00000100321|transcript|ENST00000406293|protein_coding|2/4|c.286A>G|p.Ser96Gly|306/564|286/510|96/169||,G|missense_variant|MODERATE|SYNGR1|ENSG00000100321|transcript|ENST00000381535|protein_coding|2/4|c.289A>G|p.Ser97Gly|314/1295|289/579|97/192||,G|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|2/4|c.286A>G||||||,G|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|1/4|c.286A>G||||||,G|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|3/4|c.286A>G||||||,G|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|4/4|c.286A>G||||||,G|non_coding_exon_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000415332|nonsense_mediated_decay|2/4|n.286A>G||||||,G|non_coding_exon_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000489206|retained_intron|2/2|n.291A>G|||||| 22 39770512 . C T . . ANN=T|synonymous_variant|LOW|SYNGR1|ENSG00000100321|transcript|ENST00000328933|protein_coding|2/4|c.291C>T|p.Ser97Ser|306/4391|291/702|97/233||,T|synonymous_variant|LOW|SYNGR1|ENSG00000100321|transcript|ENST00000318801|protein_coding|2/4|c.291C>T|p.Ser97Ser|377/1353|291/576|97/191||,T|synonymous_variant|LOW|SYNGR1|ENSG00000100321|transcript|ENST00000216155|protein_coding|2/3|c.291C>T|p.Ser97Ser|353/497|291/357|97/118||,T|synonymous_variant|LOW|SYNGR1|ENSG00000100321|transcript|ENST00000406293|protein_coding|2/4|c.291C>T|p.Ser97Ser|311/564|291/510|97/169||,T|synonymous_variant|LOW|SYNGR1|ENSG00000100321|transcript|ENST00000381535|protein_coding|2/4|c.294C>T|p.Ser98Ser|319/1295|294/579|98/192||,T|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|2/4|c.291C>T||||||,T|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|1/4|c.291C>T||||||,T|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|3/4|c.291C>T||||||,T|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|4/4|c.291C>T||||||,T|non_coding_exon_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000415332|nonsense_mediated_decay|2/4|n.291C>T||||||,T|non_coding_exon_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000489206|retained_intron|2/2|n.296C>T|||||| 22 39770597 . A G . . ANN=G|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|2/4|c.337+39A>G||||||,G|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|1/4|c.337+39A>G||||||,G|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|3/4|c.337+39A>G||||||,G|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|4/4|c.337+39A>G||||||,G|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000328933|protein_coding|2/4|c.337+39A>G||||||,G|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000328933|protein_coding|3/4|c.337+39A>G||||||,G|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000318801|protein_coding|2/4|c.337+39A>G||||||,G|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000318801|protein_coding|3/4|c.337+39A>G||||||,G|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000381535|protein_coding|2/4|c.340+39A>G||||||,G|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000381535|protein_coding|3/4|c.340+39A>G||||||,G|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000328933|protein_coding|2/3|c.337+39A>G||||||,G|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000318801|protein_coding|2/3|c.337+39A>G||||||,G|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000216155|protein_coding|2/2|c.337+39A>G||||||,G|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000406293|protein_coding|2/3|c.337+39A>G||||||,G|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000381535|protein_coding|2/3|c.340+39A>G||||||,G|non_coding_exon_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000415332|nonsense_mediated_decay|2/4|n.376A>G||||||,G|non_coding_exon_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000489206|retained_intron|2/2|n.381A>G|||||| 22 39772029 . T C . . ANN=C|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|2/4|c.338-28T>C||||||,C|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|1/4|c.338-28T>C||||||,C|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|3/4|c.338-28T>C||||||,C|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|4/4|c.338-28T>C||||||,C|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000328933|protein_coding|2/4|c.338-28T>C||||||,C|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000328933|protein_coding|3/4|c.338-28T>C||||||,C|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000318801|protein_coding|2/4|c.338-28T>C||||||,C|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000318801|protein_coding|3/4|c.338-28T>C||||||,C|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000381535|protein_coding|2/4|c.341-28T>C||||||,C|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000381535|protein_coding|3/4|c.341-28T>C||||||,C|3_prime_UTR_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000216155|protein_coding|3/3|c.*69T>C|||||69|,C|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000328933|protein_coding|2/3|c.338-28T>C||||||,C|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000318801|protein_coding|2/3|c.338-28T>C||||||,C|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000415332|nonsense_mediated_decay|2/3|n.*10-28T>C||||||,C|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000406293|protein_coding|2/3|c.338-28T>C||||||,C|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000381535|protein_coding|2/3|c.341-28T>C||||||,C|non_coding_exon_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000489206|retained_intron|2/2|n.1813T>C|||||| 22 39772051 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|SYNGR1|ENSG00000100321|transcript|ENST00000328933|protein_coding|2/3|c.338-6C>T||||||,T|splice_region_variant&intron_variant|LOW|SYNGR1|ENSG00000100321|transcript|ENST00000318801|protein_coding|2/3|c.338-6C>T||||||,T|splice_region_variant&intron_variant|LOW|SYNGR1|ENSG00000100321|transcript|ENST00000415332|nonsense_mediated_decay|2/3|n.*10-6C>T||||||,T|splice_region_variant&intron_variant|LOW|SYNGR1|ENSG00000100321|transcript|ENST00000406293|protein_coding|2/3|c.338-6C>T||||||,T|splice_region_variant&intron_variant|LOW|SYNGR1|ENSG00000100321|transcript|ENST00000381535|protein_coding|2/3|c.341-6C>T||||||,T|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|2/4|c.338-6C>T||||||,T|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|1/4|c.338-6C>T||||||,T|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|3/4|c.338-6C>T||||||,T|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|4/4|c.338-6C>T||||||,T|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000328933|protein_coding|2/4|c.338-6C>T||||||,T|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000328933|protein_coding|3/4|c.338-6C>T||||||,T|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000318801|protein_coding|2/4|c.338-6C>T||||||,T|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000318801|protein_coding|3/4|c.338-6C>T||||||,T|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000381535|protein_coding|2/4|c.341-6C>T||||||,T|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000381535|protein_coding|3/4|c.341-6C>T||||||,T|downstream_gene_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000216155|protein_coding||c.*419C>T|||||13|,T|non_coding_exon_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000489206|retained_intron|2/2|n.1835C>T|||||| 22 39772094 . C T . . ANN=T|synonymous_variant|LOW|SYNGR1|ENSG00000100321|transcript|ENST00000328933|protein_coding|3/4|c.375C>T|p.Tyr125Tyr|390/4391|375/702|125/233||,T|synonymous_variant|LOW|SYNGR1|ENSG00000100321|transcript|ENST00000318801|protein_coding|3/4|c.375C>T|p.Tyr125Tyr|461/1353|375/576|125/191||,T|synonymous_variant|LOW|SYNGR1|ENSG00000100321|transcript|ENST00000406293|protein_coding|3/4|c.375C>T|p.Tyr125Tyr|395/564|375/510|125/169||,T|synonymous_variant|LOW|SYNGR1|ENSG00000100321|transcript|ENST00000381535|protein_coding|3/4|c.378C>T|p.Tyr126Tyr|403/1295|378/579|126/192||,T|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|2/4|c.375C>T||||||,T|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|1/4|c.375C>T||||||,T|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|3/4|c.375C>T||||||,T|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|4/4|c.375C>T||||||,T|3_prime_UTR_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000415332|nonsense_mediated_decay|3/4|n.*47C>T|||||1438|,T|downstream_gene_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000216155|protein_coding||c.*419C>T|||||56|,T|non_coding_exon_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000415332|nonsense_mediated_decay|3/4|n.*47C>T||||||,T|non_coding_exon_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000489206|retained_intron|2/2|n.1878C>T|||||| 22 39772109 . G A . . ANN=A|stop_gained|HIGH|SYNGR1|ENSG00000100321|transcript|ENST00000328933|protein_coding|3/4|c.390G>A|p.Trp130*|405/4391|390/702|130/233||,A|stop_gained|HIGH|SYNGR1|ENSG00000100321|transcript|ENST00000318801|protein_coding|3/4|c.390G>A|p.Trp130*|476/1353|390/576|130/191||,A|stop_gained|HIGH|SYNGR1|ENSG00000100321|transcript|ENST00000406293|protein_coding|3/4|c.390G>A|p.Trp130*|410/564|390/510|130/169||,A|stop_gained|HIGH|SYNGR1|ENSG00000100321|transcript|ENST00000381535|protein_coding|3/4|c.393G>A|p.Trp131*|418/1295|393/579|131/192||,A|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|2/4|c.390G>A||||||,A|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|1/4|c.390G>A||||||,A|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|3/4|c.390G>A||||||,A|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|4/4|c.390G>A||||||,A|3_prime_UTR_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000415332|nonsense_mediated_decay|3/4|n.*62G>A|||||1453|,A|downstream_gene_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000216155|protein_coding||c.*419G>A|||||71|,A|non_coding_exon_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000415332|nonsense_mediated_decay|3/4|n.*62G>A||||||,A|non_coding_exon_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000489206|retained_intron|2/2|n.1893G>A||||||;LOF=(SYNGR1|ENSG00000100321|7|0.57);NMD=(SYNGR1|ENSG00000100321|7|0.57) 22 39772181 . C G . . ANN=G|synonymous_variant|LOW|SYNGR1|ENSG00000100321|transcript|ENST00000328933|protein_coding|3/4|c.462C>G|p.Ser154Ser|477/4391|462/702|154/233||,G|synonymous_variant|LOW|SYNGR1|ENSG00000100321|transcript|ENST00000318801|protein_coding|3/4|c.462C>G|p.Ser154Ser|548/1353|462/576|154/191||,G|synonymous_variant|LOW|SYNGR1|ENSG00000100321|transcript|ENST00000406293|protein_coding|3/4|c.462C>G|p.Ser154Ser|482/564|462/510|154/169||,G|synonymous_variant|LOW|SYNGR1|ENSG00000100321|transcript|ENST00000381535|protein_coding|3/4|c.465C>G|p.Ser155Ser|490/1295|465/579|155/192||,G|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|2/4|c.462C>G||||||,G|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|1/4|c.462C>G||||||,G|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|3/4|c.462C>G||||||,G|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|4/4|c.462C>G||||||,G|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000328933|protein_coding|3/4|c.462C>G||||||,G|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000328933|protein_coding|4/4|c.462C>G||||||,G|3_prime_UTR_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000415332|nonsense_mediated_decay|3/4|n.*134C>G|||||1525|,G|downstream_gene_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000216155|protein_coding||c.*419C>G|||||143|,G|non_coding_exon_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000415332|nonsense_mediated_decay|3/4|n.*134C>G||||||,G|non_coding_exon_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000489206|retained_intron|2/2|n.1965C>G|||||| 22 39772220 . G C . . ANN=C|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|2/4|c.483+18G>C||||||,C|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|1/4|c.483+18G>C||||||,C|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|3/4|c.483+18G>C||||||,C|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|4/4|c.483+18G>C||||||,C|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000328933|protein_coding|3/4|c.483+18G>C||||||,C|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000328933|protein_coding|4/4|c.483+18G>C||||||,C|downstream_gene_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000216155|protein_coding||c.*419G>C|||||182|,C|downstream_gene_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000489206|retained_intron||n.*1999G>C|||||5|,C|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000328933|protein_coding|3/3|c.483+18G>C||||||,C|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000318801|protein_coding|3/3|c.483+18G>C||||||,C|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000415332|nonsense_mediated_decay|3/3|n.*155+18G>C||||||,C|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000406293|protein_coding|3/3|c.483+18G>C||||||,C|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000381535|protein_coding|3/3|c.486+18G>C|||||| 22 39773624 . G A . . ANN=A|missense_variant|MODERATE|SYNGR1|ENSG00000100321|transcript|ENST00000318801|protein_coding|4/4|c.505G>A|p.Val169Met|591/1353|505/576|169/191||,A|missense_variant|MODERATE|SYNGR1|ENSG00000100321|transcript|ENST00000381535|protein_coding|4/4|c.508G>A|p.Val170Met|533/1295|508/579|170/192||,A|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|2/4|c.483+1422G>A||||||,A|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|1/4|c.483+1422G>A||||||,A|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|3/4|c.483+1422G>A||||||,A|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|4/4|c.483+1422G>A||||||,A|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000328933|protein_coding|3/4|c.483+1422G>A||||||,A|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000328933|protein_coding|4/4|c.483+1422G>A||||||,A|3_prime_UTR_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000415332|nonsense_mediated_decay|4/4|n.*177G>A|||||2968|,A|downstream_gene_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000216155|protein_coding||c.*419G>A|||||1586|,A|downstream_gene_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000406293|protein_coding||c.*530G>A|||||544|,A|downstream_gene_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000489206|retained_intron||n.*1999G>A|||||1409|,A|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000328933|protein_coding|3/3|c.483+1422G>A||||||,A|non_coding_exon_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000415332|nonsense_mediated_decay|4/4|n.*177G>A|||||| 22 39773740 . C T . . ANN=T|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|2/4|c.483+1538C>T||||||,T|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|1/4|c.483+1538C>T||||||,T|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|3/4|c.483+1538C>T||||||,T|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|4/4|c.483+1538C>T||||||,T|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000328933|protein_coding|3/4|c.483+1538C>T||||||,T|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000328933|protein_coding|4/4|c.483+1538C>T||||||,T|3_prime_UTR_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000318801|protein_coding|4/4|c.*45C>T|||||45|,T|3_prime_UTR_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000415332|nonsense_mediated_decay|4/4|n.*293C>T|||||3084|,T|3_prime_UTR_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000381535|protein_coding|4/4|c.*45C>T|||||45|,T|downstream_gene_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000216155|protein_coding||c.*419C>T|||||1702|,T|downstream_gene_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000406293|protein_coding||c.*530C>T|||||660|,T|downstream_gene_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000489206|retained_intron||n.*1999C>T|||||1525|,T|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000328933|protein_coding|3/3|c.483+1538C>T||||||,T|non_coding_exon_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000415332|nonsense_mediated_decay|4/4|n.*293C>T|||||| 22 39777666 . C T . . ANN=T|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|2/4|c.484-35C>T||||||,T|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|1/4|c.484-35C>T||||||,T|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|3/4|c.484-35C>T||||||,T|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|4/4|c.484-35C>T||||||,T|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000328933|protein_coding|3/4|c.484-35C>T||||||,T|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000328933|protein_coding|4/4|c.484-35C>T||||||,T|downstream_gene_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000318801|protein_coding||c.*662C>T|||||3280|,T|downstream_gene_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000415332|nonsense_mediated_decay||n.*459C>T|||||3750|,T|downstream_gene_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000406293|protein_coding||c.*530C>T|||||4586|,T|downstream_gene_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000381535|protein_coding||c.*604C>T|||||3280|,T|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000328933|protein_coding|3/3|c.484-35C>T|||||| 22 39777680 . C T . . ANN=T|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|2/4|c.484-21C>T||||||,T|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|1/4|c.484-21C>T||||||,T|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|3/4|c.484-21C>T||||||,T|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|4/4|c.484-21C>T||||||,T|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000328933|protein_coding|3/4|c.484-21C>T||||||,T|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000328933|protein_coding|4/4|c.484-21C>T||||||,T|downstream_gene_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000318801|protein_coding||c.*662C>T|||||3294|,T|downstream_gene_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000415332|nonsense_mediated_decay||n.*459C>T|||||3764|,T|downstream_gene_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000406293|protein_coding||c.*530C>T|||||4600|,T|downstream_gene_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000381535|protein_coding||c.*604C>T|||||3294|,T|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000328933|protein_coding|3/3|c.484-21C>T|||||| 22 39777788 . G C . . ANN=C|missense_variant|MODERATE|SYNGR1|ENSG00000100321|transcript|ENST00000328933|protein_coding|4/4|c.571G>C|p.Asp191His|586/4391|571/702|191/233||,C|downstream_gene_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000318801|protein_coding||c.*662G>C|||||3402|,C|downstream_gene_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000415332|nonsense_mediated_decay||n.*459G>C|||||3872|,C|downstream_gene_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000406293|protein_coding||c.*530G>C|||||4708|,C|downstream_gene_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000381535|protein_coding||c.*604G>C|||||3402| 22 39777821 . C CCCA . . ANN=CAC|disruptive_inframe_insertion|MODERATE|SYNGR1|ENSG00000100321|transcript|ENST00000328933|protein_coding|4/4|c.606_608dupCAC|p.Thr203dup|624/4391|609/702|203/233||INFO_REALIGN_3_PRIME,CCA|downstream_gene_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000318801|protein_coding||c.*662_*662insCCA|||||3436|,CCA|downstream_gene_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000415332|nonsense_mediated_decay||n.*459_*459insCCA|||||3906|,CCA|downstream_gene_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000406293|protein_coding||c.*530_*530insCCA|||||4742|,CCA|downstream_gene_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000381535|protein_coding||c.*604_*604insCCA|||||3436| 22 39777822 . C CCAA . . ANN=ACA|disruptive_inframe_insertion|MODERATE|SYNGR1|ENSG00000100321|transcript|ENST00000328933|protein_coding|4/4|c.607_608insACA|p.Pro202_Thr203insAsn|623/4391|608/702|203/233||INFO_REALIGN_3_PRIME,CAA|downstream_gene_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000318801|protein_coding||c.*662_*662insCAA|||||3437|,CAA|downstream_gene_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000415332|nonsense_mediated_decay||n.*459_*459insCAA|||||3907|,CAA|downstream_gene_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000406293|protein_coding||c.*530_*530insCAA|||||4743|,CAA|downstream_gene_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000381535|protein_coding||c.*604_*604insCAA|||||3437| 22 39777824 . A AACC . . ANN=ACC|disruptive_inframe_insertion|MODERATE|SYNGR1|ENSG00000100321|transcript|ENST00000328933|protein_coding|4/4|c.607_608insACC|p.Thr203delinsAsnPro|623/4391|608/702|203/233||,ACC|downstream_gene_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000318801|protein_coding||c.*662_*662insACC|||||3439|,ACC|downstream_gene_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000415332|nonsense_mediated_decay||n.*459_*459insACC|||||3909|,ACC|downstream_gene_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000406293|protein_coding||c.*530_*530insACC|||||4745|,ACC|downstream_gene_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000381535|protein_coding||c.*604_*604insACC|||||3439| 22 39777880 . C T . . ANN=T|synonymous_variant|LOW|SYNGR1|ENSG00000100321|transcript|ENST00000328933|protein_coding|4/4|c.663C>T|p.Phe221Phe|678/4391|663/702|221/233||,T|downstream_gene_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000318801|protein_coding||c.*662C>T|||||3494|,T|downstream_gene_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000415332|nonsense_mediated_decay||n.*459C>T|||||3964|,T|downstream_gene_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000406293|protein_coding||c.*530C>T|||||4800|,T|downstream_gene_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000381535|protein_coding||c.*604C>T|||||3494| 22 39777886 . C T . . ANN=T|synonymous_variant|LOW|SYNGR1|ENSG00000100321|transcript|ENST00000328933|protein_coding|4/4|c.669C>T|p.Thr223Thr|684/4391|669/702|223/233||,T|downstream_gene_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000318801|protein_coding||c.*662C>T|||||3500|,T|downstream_gene_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000415332|nonsense_mediated_decay||n.*459C>T|||||3970|,T|downstream_gene_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000406293|protein_coding||c.*530C>T|||||4806|,T|downstream_gene_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000381535|protein_coding||c.*604C>T|||||3500| 22 39795772 . C CG . . ANN=G|5_prime_UTR_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|1/11|c.-32dupG|||||31|INFO_REALIGN_3_PRIME,G|upstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473613|retained_intron||n.-1_-1insG|||||10|,G|upstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding||c.-20_-20insG|||||16| 22 39795800 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|1/11|c.-8C>T|||||8|,T|5_prime_UTR_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|1/11|c.-8C>T|||||8|,T|non_coding_exon_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473613|retained_intron|1/4|n.18C>T|||||| 22 39795847 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|1/10|c.33+7A>G||||||,G|splice_region_variant&intron_variant|LOW|TAB1|ENSG00000100324|transcript|ENST00000473613|retained_intron|1/3|n.58+7A>G||||||,G|splice_region_variant&intron_variant|LOW|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|1/10|c.33+7A>G|||||| 22 39795852 . G A . . ANN=A|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|1/10|c.33+12G>A||||||,A|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473613|retained_intron|1/3|n.58+12G>A||||||,A|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|1/10|c.33+12G>A|||||| 22 39795855 . C T . . ANN=T|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|1/10|c.33+15C>T||||||,T|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473613|retained_intron|1/3|n.58+15C>T||||||,T|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|1/10|c.33+15C>T|||||| 22 39795866 . C T . . ANN=T|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|1/10|c.33+26C>T||||||,T|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473613|retained_intron|1/3|n.58+26C>T||||||,T|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|1/10|c.33+26C>T|||||| 22 39810972 . C T . . ANN=T|upstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000490819|retained_intron||n.-1C>T|||||1777|,T|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|1/10|c.34-39C>T||||||,T|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|1/10|c.34-39C>T||||||,T|non_coding_exon_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473613|retained_intron|2/4|n.146C>T||||||,T|non_coding_exon_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000461775|retained_intron|1/3|n.238C>T|||||| 22 39810974 . C T . . ANN=T|upstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000490819|retained_intron||n.-1C>T|||||1775|,T|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|1/10|c.34-37C>T||||||,T|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|1/10|c.34-37C>T||||||,T|non_coding_exon_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473613|retained_intron|2/4|n.148C>T||||||,T|non_coding_exon_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000461775|retained_intron|1/3|n.240C>T|||||| 22 39811081 . G A . . ANN=A|missense_variant|MODERATE|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|2/11|c.104G>A|p.Arg35His|166/3237|104/1515|35/504||,A|missense_variant|MODERATE|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|2/11|c.104G>A|p.Arg35His|123/1660|104/1389|35/462||,A|sequence_feature|LOW|TAB1|ENSG00000100324|beta_strand|ENST00000216160|protein_coding|2/11|c.104G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|beta_strand|ENST00000331454|protein_coding|2/11|c.104G>A||||||,A|upstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000490819|retained_intron||n.-1G>A|||||1668|,A|non_coding_exon_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473613|retained_intron|2/4|n.255G>A||||||,A|non_coding_exon_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000461775|retained_intron|1/3|n.347G>A|||||| 22 39811120 . C T . . ANN=T|missense_variant|MODERATE|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|2/11|c.143C>T|p.Pro48Leu|205/3237|143/1515|48/504||,T|missense_variant|MODERATE|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|2/11|c.143C>T|p.Pro48Leu|162/1660|143/1389|48/462||,T|upstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000490819|retained_intron||n.-1C>T|||||1629|,T|non_coding_exon_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473613|retained_intron|2/4|n.294C>T||||||,T|non_coding_exon_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000461775|retained_intron|1/3|n.386C>T|||||| 22 39811185 . T A . . ANN=A|sequence_feature|LOW|TAB1|ENSG00000100324|beta_strand|ENST00000216160|protein_coding|3/11|c.170+38T>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|beta_strand|ENST00000216160|protein_coding|2/11|c.170+38T>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|beta_strand|ENST00000331454|protein_coding|3/11|c.170+38T>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|beta_strand|ENST00000331454|protein_coding|2/11|c.170+38T>A||||||,A|upstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000490819|retained_intron||n.-1T>A|||||1564|,A|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|2/10|c.170+38T>A||||||,A|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473613|retained_intron|2/3|n.321+38T>A||||||,A|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|2/10|c.170+38T>A||||||,A|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000461775|retained_intron|1/2|n.413+38T>A|||||| 22 39811485 . C G . . ANN=G|sequence_feature|LOW|TAB1|ENSG00000100324|beta_strand|ENST00000216160|protein_coding|3/11|c.171-20C>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|beta_strand|ENST00000216160|protein_coding|2/11|c.171-20C>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|beta_strand|ENST00000331454|protein_coding|3/11|c.171-20C>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|beta_strand|ENST00000331454|protein_coding|2/11|c.171-20C>G||||||,G|upstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000490819|retained_intron||n.-1C>G|||||1264|,G|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|2/10|c.171-20C>G||||||,G|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473613|retained_intron|2/3|n.322-20C>G||||||,G|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|2/10|c.171-20C>G||||||,G|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000461775|retained_intron|1/2|n.414-20C>G|||||| 22 39811541 . C T . . ANN=T|synonymous_variant|LOW|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|3/11|c.207C>T|p.Asn69Asn|269/3237|207/1515|69/504||,T|synonymous_variant|LOW|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|3/11|c.207C>T|p.Asn69Asn|226/1660|207/1389|69/462||,T|sequence_feature|LOW|TAB1|ENSG00000100324|beta_strand|ENST00000216160|protein_coding|3/11|c.207C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|3/11|c.207C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|7/11|c.207C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|8/11|c.207C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|9/11|c.207C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|4/11|c.207C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|5/11|c.207C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|6/11|c.207C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|beta_strand|ENST00000331454|protein_coding|3/11|c.207C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|3/11|c.207C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|7/11|c.207C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|8/11|c.207C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|9/11|c.207C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|4/11|c.207C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|5/11|c.207C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|6/11|c.207C>T||||||,T|upstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000490819|retained_intron||n.-1C>T|||||1208|,T|non_coding_exon_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473613|retained_intron|3/4|n.358C>T||||||,T|non_coding_exon_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000461775|retained_intron|2/3|n.450C>T|||||| 22 39811589 . C T . . ANN=T|synonymous_variant|LOW|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|3/11|c.255C>T|p.Ser85Ser|317/3237|255/1515|85/504||,T|synonymous_variant|LOW|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|3/11|c.255C>T|p.Ser85Ser|274/1660|255/1389|85/462||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|3/11|c.255C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|7/11|c.255C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|8/11|c.255C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|9/11|c.255C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|4/11|c.255C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|5/11|c.255C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|6/11|c.255C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000216160|protein_coding|3/11|c.255C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|3/11|c.255C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|7/11|c.255C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|8/11|c.255C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|9/11|c.255C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|4/11|c.255C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|5/11|c.255C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|6/11|c.255C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000331454|protein_coding|3/11|c.255C>T||||||,T|upstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000490819|retained_intron||n.-1C>T|||||1160|,T|non_coding_exon_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473613|retained_intron|3/4|n.406C>T||||||,T|non_coding_exon_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000461775|retained_intron|2/3|n.498C>T|||||| 22 39811645 . G A . . ANN=A|missense_variant|MODERATE|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|3/11|c.311G>A|p.Arg104His|373/3237|311/1515|104/504||,A|missense_variant|MODERATE|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|3/11|c.311G>A|p.Arg104His|330/1660|311/1389|104/462||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|3/11|c.311G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|7/11|c.311G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|8/11|c.311G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|9/11|c.311G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|4/11|c.311G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|5/11|c.311G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|6/11|c.311G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000216160|protein_coding|3/11|c.311G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000216160|protein_coding|4/11|c.311G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|3/11|c.311G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|7/11|c.311G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|8/11|c.311G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|9/11|c.311G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|4/11|c.311G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|5/11|c.311G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|6/11|c.311G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000331454|protein_coding|3/11|c.311G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000331454|protein_coding|4/11|c.311G>A||||||,A|upstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000490819|retained_intron||n.-1G>A|||||1104|,A|non_coding_exon_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473613|retained_intron|3/4|n.462G>A||||||,A|non_coding_exon_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000461775|retained_intron|2/3|n.554G>A|||||| 22 39811687 . A T . . ANN=T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|3/11|c.324+29A>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|7/11|c.324+29A>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|8/11|c.324+29A>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|9/11|c.324+29A>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|4/11|c.324+29A>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|5/11|c.324+29A>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|6/11|c.324+29A>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000216160|protein_coding|3/11|c.324+29A>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000216160|protein_coding|4/11|c.324+29A>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|3/11|c.324+29A>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|7/11|c.324+29A>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|8/11|c.324+29A>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|9/11|c.324+29A>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|4/11|c.324+29A>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|5/11|c.324+29A>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|6/11|c.324+29A>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000331454|protein_coding|3/11|c.324+29A>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000331454|protein_coding|4/11|c.324+29A>T||||||,T|upstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000490819|retained_intron||n.-1A>T|||||1062|,T|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|3/10|c.324+29A>T||||||,T|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473613|retained_intron|3/3|n.475+29A>T||||||,T|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|3/10|c.324+29A>T||||||,T|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000461775|retained_intron|2/2|n.567+29A>T|||||| 22 39811704 . C T . . ANN=T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|3/11|c.324+46C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|7/11|c.324+46C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|8/11|c.324+46C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|9/11|c.324+46C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|4/11|c.324+46C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|5/11|c.324+46C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|6/11|c.324+46C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000216160|protein_coding|3/11|c.324+46C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000216160|protein_coding|4/11|c.324+46C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|3/11|c.324+46C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|7/11|c.324+46C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|8/11|c.324+46C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|9/11|c.324+46C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|4/11|c.324+46C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|5/11|c.324+46C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|6/11|c.324+46C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000331454|protein_coding|3/11|c.324+46C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000331454|protein_coding|4/11|c.324+46C>T||||||,T|upstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000490819|retained_intron||n.-1C>T|||||1045|,T|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|3/10|c.324+46C>T||||||,T|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473613|retained_intron|3/3|n.475+46C>T||||||,T|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|3/10|c.324+46C>T||||||,T|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000461775|retained_intron|2/2|n.567+46C>T|||||| 22 39812769 . C G . . ANN=G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|3/11|c.325-27C>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|7/11|c.325-27C>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|8/11|c.325-27C>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|9/11|c.325-27C>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|4/11|c.325-27C>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|5/11|c.325-27C>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|6/11|c.325-27C>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000216160|protein_coding|3/11|c.325-27C>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000216160|protein_coding|4/11|c.325-27C>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|3/11|c.325-27C>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|7/11|c.325-27C>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|8/11|c.325-27C>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|9/11|c.325-27C>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|4/11|c.325-27C>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|5/11|c.325-27C>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|6/11|c.325-27C>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000331454|protein_coding|3/11|c.325-27C>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000331454|protein_coding|4/11|c.325-27C>G||||||,G|upstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473491|retained_intron||n.-1C>G|||||4971|,G|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|3/10|c.325-27C>G||||||,G|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473613|retained_intron|3/3|n.476-27C>G||||||,G|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|3/10|c.325-27C>G||||||,G|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000461775|retained_intron|2/2|n.568-27C>G||||||,G|non_coding_exon_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000490819|retained_intron|1/2|n.21C>G|||||| 22 39812791 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|3/10|c.325-5C>T||||||,T|splice_region_variant&intron_variant|LOW|TAB1|ENSG00000100324|transcript|ENST00000473613|retained_intron|3/3|n.476-5C>T||||||,T|splice_region_variant&intron_variant|LOW|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|3/10|c.325-5C>T||||||,T|splice_region_variant&intron_variant|LOW|TAB1|ENSG00000100324|transcript|ENST00000461775|retained_intron|2/2|n.568-5C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|3/11|c.325-5C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|7/11|c.325-5C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|8/11|c.325-5C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|9/11|c.325-5C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|4/11|c.325-5C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|5/11|c.325-5C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|6/11|c.325-5C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000216160|protein_coding|3/11|c.325-5C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000216160|protein_coding|4/11|c.325-5C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|3/11|c.325-5C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|7/11|c.325-5C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|8/11|c.325-5C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|9/11|c.325-5C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|4/11|c.325-5C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|5/11|c.325-5C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|6/11|c.325-5C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000331454|protein_coding|3/11|c.325-5C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000331454|protein_coding|4/11|c.325-5C>T||||||,T|upstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473491|retained_intron||n.-1C>T|||||4949|,T|non_coding_exon_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000490819|retained_intron|1/2|n.43C>T|||||| 22 39813705 . G A . . ANN=A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|3/11|c.412-11G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|7/11|c.412-11G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|8/11|c.412-11G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|9/11|c.412-11G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|4/11|c.412-11G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|5/11|c.412-11G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|6/11|c.412-11G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|3/11|c.412-11G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|7/11|c.412-11G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|8/11|c.412-11G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|9/11|c.412-11G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|4/11|c.412-11G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|5/11|c.412-11G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|6/11|c.412-11G>A||||||,A|upstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473491|retained_intron||n.-1G>A|||||4035|,A|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473613|retained_intron||n.*534G>A|||||851|,A|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000461775|retained_intron||n.*573G>A|||||904|,A|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|4/10|c.412-11G>A||||||,A|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|4/10|c.412-11G>A||||||,A|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000490819|retained_intron|1/1|n.135-11G>A|||||| 22 39813741 . C T . . ANN=T|missense_variant|MODERATE|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|5/11|c.437C>T|p.Pro146Leu|499/3237|437/1515|146/504||,T|missense_variant|MODERATE|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|5/11|c.437C>T|p.Pro146Leu|456/1660|437/1389|146/462||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|3/11|c.437C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|7/11|c.437C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|8/11|c.437C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|9/11|c.437C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|4/11|c.437C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|5/11|c.437C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|6/11|c.437C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000216160|protein_coding|5/11|c.437C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|3/11|c.437C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|7/11|c.437C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|8/11|c.437C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|9/11|c.437C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|4/11|c.437C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|5/11|c.437C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|6/11|c.437C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000331454|protein_coding|5/11|c.437C>T||||||,T|upstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473491|retained_intron||n.-1C>T|||||3999|,T|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473613|retained_intron||n.*534C>T|||||887|,T|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000461775|retained_intron||n.*573C>T|||||940|,T|non_coding_exon_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000490819|retained_intron|2/2|n.160C>T|||||| 22 39813759 . T C . . ANN=C|missense_variant|MODERATE|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|5/11|c.455T>C|p.Leu152Pro|517/3237|455/1515|152/504||,C|missense_variant|MODERATE|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|5/11|c.455T>C|p.Leu152Pro|474/1660|455/1389|152/462||,C|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|3/11|c.455T>C||||||,C|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|7/11|c.455T>C||||||,C|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|8/11|c.455T>C||||||,C|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|9/11|c.455T>C||||||,C|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|4/11|c.455T>C||||||,C|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|5/11|c.455T>C||||||,C|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|6/11|c.455T>C||||||,C|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000216160|protein_coding|5/11|c.455T>C||||||,C|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|3/11|c.455T>C||||||,C|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|7/11|c.455T>C||||||,C|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|8/11|c.455T>C||||||,C|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|9/11|c.455T>C||||||,C|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|4/11|c.455T>C||||||,C|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|5/11|c.455T>C||||||,C|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|6/11|c.455T>C||||||,C|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000331454|protein_coding|5/11|c.455T>C||||||,C|upstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473491|retained_intron||n.-1T>C|||||3981|,C|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473613|retained_intron||n.*534T>C|||||905|,C|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000461775|retained_intron||n.*573T>C|||||958|,C|non_coding_exon_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000490819|retained_intron|2/2|n.178T>C|||||| 22 39813793 . G A . . ANN=A|synonymous_variant|LOW|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|5/11|c.489G>A|p.Ser163Ser|551/3237|489/1515|163/504||,A|synonymous_variant|LOW|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|5/11|c.489G>A|p.Ser163Ser|508/1660|489/1389|163/462||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|3/11|c.489G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|7/11|c.489G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|8/11|c.489G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|9/11|c.489G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|4/11|c.489G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|5/11|c.489G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|6/11|c.489G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|3/11|c.489G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|7/11|c.489G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|8/11|c.489G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|9/11|c.489G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|4/11|c.489G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|5/11|c.489G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|6/11|c.489G>A||||||,A|upstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473491|retained_intron||n.-1G>A|||||3947|,A|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473613|retained_intron||n.*534G>A|||||939|,A|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000461775|retained_intron||n.*573G>A|||||992|,A|non_coding_exon_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000490819|retained_intron|2/2|n.212G>A|||||| 22 39813820 . C T . . ANN=T|splice_region_variant&non_coding_exon_variant|LOW|TAB1|ENSG00000100324|transcript|ENST00000490819|retained_intron|2/2|n.239C>T||||||,T|synonymous_variant|LOW|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|5/11|c.516C>T|p.Val172Val|578/3237|516/1515|172/504||,T|synonymous_variant|LOW|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|5/11|c.516C>T|p.Val172Val|535/1660|516/1389|172/462||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|3/11|c.516C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|7/11|c.516C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|8/11|c.516C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|9/11|c.516C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|4/11|c.516C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|5/11|c.516C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|6/11|c.516C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|beta_strand|ENST00000216160|protein_coding|5/11|c.516C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|3/11|c.516C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|7/11|c.516C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|8/11|c.516C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|9/11|c.516C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|4/11|c.516C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|5/11|c.516C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|6/11|c.516C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|beta_strand|ENST00000331454|protein_coding|5/11|c.516C>T||||||,T|upstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473491|retained_intron||n.-1C>T|||||3920|,T|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473613|retained_intron||n.*534C>T|||||966|,T|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000461775|retained_intron||n.*573C>T|||||1019| 22 39813844 . C T . . ANN=T|synonymous_variant|LOW|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|5/11|c.540C>T|p.Val180Val|602/3237|540/1515|180/504||,T|synonymous_variant|LOW|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|5/11|c.540C>T|p.Val180Val|559/1660|540/1389|180/462||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|3/11|c.540C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|7/11|c.540C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|8/11|c.540C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|9/11|c.540C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|4/11|c.540C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|5/11|c.540C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|6/11|c.540C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|beta_strand|ENST00000216160|protein_coding|5/11|c.540C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|beta_strand|ENST00000216160|protein_coding|6/11|c.540C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|3/11|c.540C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|7/11|c.540C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|8/11|c.540C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|9/11|c.540C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|4/11|c.540C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|5/11|c.540C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|6/11|c.540C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|beta_strand|ENST00000331454|protein_coding|5/11|c.540C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|beta_strand|ENST00000331454|protein_coding|6/11|c.540C>T||||||,T|upstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473491|retained_intron||n.-1C>T|||||3896|,T|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473613|retained_intron||n.*534C>T|||||990|,T|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000461775|retained_intron||n.*573C>T|||||1043|,T|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000490819|retained_intron||n.*240C>T|||||23| 22 39814746 . G A . . ANN=A|missense_variant|MODERATE|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|6/11|c.560G>A|p.Arg187His|622/3237|560/1515|187/504||,A|missense_variant|MODERATE|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|6/11|c.560G>A|p.Arg187His|579/1660|560/1389|187/462||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|3/11|c.560G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|7/11|c.560G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|8/11|c.560G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|9/11|c.560G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|4/11|c.560G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|5/11|c.560G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|6/11|c.560G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|beta_strand|ENST00000216160|protein_coding|6/11|c.560G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|3/11|c.560G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|7/11|c.560G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|8/11|c.560G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|9/11|c.560G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|4/11|c.560G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|5/11|c.560G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|6/11|c.560G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|beta_strand|ENST00000331454|protein_coding|6/11|c.560G>A||||||,A|upstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473491|retained_intron||n.-1G>A|||||2994|,A|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473613|retained_intron||n.*534G>A|||||1892|,A|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000461775|retained_intron||n.*573G>A|||||1945|,A|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000490819|retained_intron||n.*240G>A|||||925| 22 39814765 . G C . . ANN=C|synonymous_variant|LOW|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|6/11|c.579G>C|p.Ser193Ser|641/3237|579/1515|193/504||,C|synonymous_variant|LOW|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|6/11|c.579G>C|p.Ser193Ser|598/1660|579/1389|193/462||,C|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|3/11|c.579G>C||||||,C|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|7/11|c.579G>C||||||,C|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|8/11|c.579G>C||||||,C|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|9/11|c.579G>C||||||,C|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|4/11|c.579G>C||||||,C|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|5/11|c.579G>C||||||,C|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|6/11|c.579G>C||||||,C|sequence_feature|LOW|TAB1|ENSG00000100324|beta_strand|ENST00000216160|protein_coding|6/11|c.579G>C||||||,C|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|3/11|c.579G>C||||||,C|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|7/11|c.579G>C||||||,C|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|8/11|c.579G>C||||||,C|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|9/11|c.579G>C||||||,C|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|4/11|c.579G>C||||||,C|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|5/11|c.579G>C||||||,C|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|6/11|c.579G>C||||||,C|sequence_feature|LOW|TAB1|ENSG00000100324|beta_strand|ENST00000331454|protein_coding|6/11|c.579G>C||||||,C|upstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473491|retained_intron||n.-1G>C|||||2975|,C|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473613|retained_intron||n.*534G>C|||||1911|,C|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000461775|retained_intron||n.*573G>C|||||1964|,C|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000490819|retained_intron||n.*240G>C|||||944| 22 39814843 . G A . . ANN=A|synonymous_variant|LOW|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|6/11|c.657G>A|p.Ser219Ser|719/3237|657/1515|219/504||,A|synonymous_variant|LOW|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|6/11|c.657G>A|p.Ser219Ser|676/1660|657/1389|219/462||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|3/11|c.657G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|7/11|c.657G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|8/11|c.657G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|9/11|c.657G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|4/11|c.657G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|5/11|c.657G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|6/11|c.657G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000216160|protein_coding|6/11|c.657G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|3/11|c.657G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|7/11|c.657G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|8/11|c.657G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|9/11|c.657G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|4/11|c.657G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|5/11|c.657G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|6/11|c.657G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000331454|protein_coding|6/11|c.657G>A||||||,A|upstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473491|retained_intron||n.-1G>A|||||2897|,A|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473613|retained_intron||n.*534G>A|||||1989|,A|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000461775|retained_intron||n.*573G>A|||||2042|,A|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000490819|retained_intron||n.*240G>A|||||1022| 22 39814872 . G A . . ANN=A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|3/11|c.664+22G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|7/11|c.664+22G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|8/11|c.664+22G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|9/11|c.664+22G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|4/11|c.664+22G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|5/11|c.664+22G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|6/11|c.664+22G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|turn|ENST00000216160|protein_coding|7/11|c.664+22G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|turn|ENST00000216160|protein_coding|6/11|c.664+22G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|3/11|c.664+22G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|7/11|c.664+22G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|8/11|c.664+22G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|9/11|c.664+22G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|4/11|c.664+22G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|5/11|c.664+22G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|6/11|c.664+22G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|turn|ENST00000331454|protein_coding|7/11|c.664+22G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|turn|ENST00000331454|protein_coding|6/11|c.664+22G>A||||||,A|upstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473491|retained_intron||n.-1G>A|||||2868|,A|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473613|retained_intron||n.*534G>A|||||2018|,A|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000461775|retained_intron||n.*573G>A|||||2071|,A|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000490819|retained_intron||n.*240G>A|||||1051|,A|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|6/10|c.664+22G>A||||||,A|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|6/10|c.664+22G>A|||||| 22 39814886 . A G . . ANN=G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|3/11|c.664+36A>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|7/11|c.664+36A>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|8/11|c.664+36A>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|9/11|c.664+36A>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|4/11|c.664+36A>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|5/11|c.664+36A>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|6/11|c.664+36A>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|turn|ENST00000216160|protein_coding|7/11|c.664+36A>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|turn|ENST00000216160|protein_coding|6/11|c.664+36A>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|3/11|c.664+36A>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|7/11|c.664+36A>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|8/11|c.664+36A>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|9/11|c.664+36A>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|4/11|c.664+36A>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|5/11|c.664+36A>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|6/11|c.664+36A>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|turn|ENST00000331454|protein_coding|7/11|c.664+36A>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|turn|ENST00000331454|protein_coding|6/11|c.664+36A>G||||||,G|upstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473491|retained_intron||n.-1A>G|||||2854|,G|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473613|retained_intron||n.*534A>G|||||2032|,G|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000461775|retained_intron||n.*573A>G|||||2085|,G|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000490819|retained_intron||n.*240A>G|||||1065|,G|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|6/10|c.664+36A>G||||||,G|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|6/10|c.664+36A>G|||||| 22 39815516 . CTCCG C . . ANN=|splice_region_variant&intron_variant|LOW|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|6/10|c.665-6_665-3delCCGT||||||INFO_REALIGN_3_PRIME,|splice_region_variant&intron_variant|LOW|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|6/10|c.665-6_665-3delCCGT||||||INFO_REALIGN_3_PRIME,|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|3/11|c.665-7_665-4delTCCG||||||,|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|7/11|c.665-7_665-4delTCCG||||||,|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|8/11|c.665-7_665-4delTCCG||||||,|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|9/11|c.665-7_665-4delTCCG||||||,|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|4/11|c.665-7_665-4delTCCG||||||,|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|5/11|c.665-7_665-4delTCCG||||||,|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|6/11|c.665-7_665-4delTCCG||||||,|sequence_feature|LOW|TAB1|ENSG00000100324|turn|ENST00000216160|protein_coding|7/11|c.665-7_665-4delTCCG||||||,|sequence_feature|LOW|TAB1|ENSG00000100324|turn|ENST00000216160|protein_coding|6/11|c.665-7_665-4delTCCG||||||,|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|3/11|c.665-7_665-4delTCCG||||||,|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|7/11|c.665-7_665-4delTCCG||||||,|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|8/11|c.665-7_665-4delTCCG||||||,|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|9/11|c.665-7_665-4delTCCG||||||,|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|4/11|c.665-7_665-4delTCCG||||||,|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|5/11|c.665-7_665-4delTCCG||||||,|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|6/11|c.665-7_665-4delTCCG||||||,|sequence_feature|LOW|TAB1|ENSG00000100324|turn|ENST00000331454|protein_coding|7/11|c.665-7_665-4delTCCG||||||,|sequence_feature|LOW|TAB1|ENSG00000100324|turn|ENST00000331454|protein_coding|6/11|c.665-7_665-4delTCCG||||||,|upstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473491|retained_intron||n.-1_-1delTCCG|||||2223|,|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473613|retained_intron||n.*534_*534delTCCG|||||2663|,|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000461775|retained_intron||n.*573_*573delTCCG|||||2716|,|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000490819|retained_intron||n.*240_*240delTCCG|||||1696| 22 39815519 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|6/10|c.665-5C>T||||||,T|splice_region_variant&intron_variant|LOW|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|6/10|c.665-5C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|3/11|c.665-5C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|7/11|c.665-5C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|8/11|c.665-5C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|9/11|c.665-5C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|4/11|c.665-5C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|5/11|c.665-5C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|6/11|c.665-5C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|turn|ENST00000216160|protein_coding|7/11|c.665-5C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|turn|ENST00000216160|protein_coding|6/11|c.665-5C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|3/11|c.665-5C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|7/11|c.665-5C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|8/11|c.665-5C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|9/11|c.665-5C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|4/11|c.665-5C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|5/11|c.665-5C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|6/11|c.665-5C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|turn|ENST00000331454|protein_coding|7/11|c.665-5C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|turn|ENST00000331454|protein_coding|6/11|c.665-5C>T||||||,T|upstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473491|retained_intron||n.-1C>T|||||2221|,T|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473613|retained_intron||n.*534C>T|||||2665|,T|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000461775|retained_intron||n.*573C>T|||||2718|,T|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000490819|retained_intron||n.*240C>T|||||1698| 22 39815564 . T G . . ANN=G|missense_variant|MODERATE|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|7/11|c.705T>G|p.Cys235Trp|767/3237|705/1515|235/504||,G|missense_variant|MODERATE|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|7/11|c.705T>G|p.Cys235Trp|724/1660|705/1389|235/462||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|3/11|c.705T>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|7/11|c.705T>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|8/11|c.705T>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|9/11|c.705T>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|4/11|c.705T>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|5/11|c.705T>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|6/11|c.705T>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|beta_strand|ENST00000216160|protein_coding|7/11|c.705T>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|3/11|c.705T>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|7/11|c.705T>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|8/11|c.705T>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|9/11|c.705T>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|4/11|c.705T>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|5/11|c.705T>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|6/11|c.705T>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|beta_strand|ENST00000331454|protein_coding|7/11|c.705T>G||||||,G|upstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473491|retained_intron||n.-1T>G|||||2176|,G|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473613|retained_intron||n.*534T>G|||||2710|,G|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000461775|retained_intron||n.*573T>G|||||2763|,G|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000490819|retained_intron||n.*240T>G|||||1743| 22 39815646 . G A . . ANN=A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|3/11|c.776+11G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|7/11|c.776+11G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|8/11|c.776+11G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|9/11|c.776+11G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|4/11|c.776+11G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|5/11|c.776+11G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|6/11|c.776+11G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|turn|ENST00000216160|protein_coding|7/11|c.776+11G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|turn|ENST00000216160|protein_coding|8/11|c.776+11G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|3/11|c.776+11G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|7/11|c.776+11G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|8/11|c.776+11G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|9/11|c.776+11G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|4/11|c.776+11G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|5/11|c.776+11G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|6/11|c.776+11G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|turn|ENST00000331454|protein_coding|7/11|c.776+11G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|turn|ENST00000331454|protein_coding|8/11|c.776+11G>A||||||,A|upstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473491|retained_intron||n.-1G>A|||||2094|,A|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473613|retained_intron||n.*534G>A|||||2792|,A|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000461775|retained_intron||n.*573G>A|||||2845|,A|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000490819|retained_intron||n.*240G>A|||||1825|,A|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|7/10|c.776+11G>A||||||,A|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|7/10|c.776+11G>A|||||| 22 39815651 . G A . . ANN=A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|3/11|c.776+16G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|7/11|c.776+16G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|8/11|c.776+16G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|9/11|c.776+16G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|4/11|c.776+16G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|5/11|c.776+16G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|6/11|c.776+16G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|turn|ENST00000216160|protein_coding|7/11|c.776+16G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|turn|ENST00000216160|protein_coding|8/11|c.776+16G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|3/11|c.776+16G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|7/11|c.776+16G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|8/11|c.776+16G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|9/11|c.776+16G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|4/11|c.776+16G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|5/11|c.776+16G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|6/11|c.776+16G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|turn|ENST00000331454|protein_coding|7/11|c.776+16G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|turn|ENST00000331454|protein_coding|8/11|c.776+16G>A||||||,A|upstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473491|retained_intron||n.-1G>A|||||2089|,A|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473613|retained_intron||n.*534G>A|||||2797|,A|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000461775|retained_intron||n.*573G>A|||||2850|,A|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000490819|retained_intron||n.*240G>A|||||1830|,A|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|7/10|c.776+16G>A||||||,A|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|7/10|c.776+16G>A|||||| 22 39822659 . C A . . ANN=A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|3/11|c.922-49C>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|7/11|c.922-49C>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|8/11|c.922-49C>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|9/11|c.922-49C>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|4/11|c.922-49C>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|5/11|c.922-49C>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|6/11|c.922-49C>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000216160|protein_coding|8/11|c.922-49C>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000216160|protein_coding|9/11|c.922-49C>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|3/11|c.922-49C>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|7/11|c.922-49C>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|8/11|c.922-49C>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|9/11|c.922-49C>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|4/11|c.922-49C>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|5/11|c.922-49C>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|6/11|c.922-49C>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000331454|protein_coding|8/11|c.922-49C>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000331454|protein_coding|9/11|c.922-49C>A||||||,A|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|8/10|c.922-49C>A||||||,A|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|8/10|c.922-49C>A||||||,A|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473491|retained_intron|1/2|n.238-49C>A|||||| 22 39822665 . C T . . ANN=T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|3/11|c.922-43C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|7/11|c.922-43C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|8/11|c.922-43C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|9/11|c.922-43C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|4/11|c.922-43C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|5/11|c.922-43C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|6/11|c.922-43C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000216160|protein_coding|8/11|c.922-43C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000216160|protein_coding|9/11|c.922-43C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|3/11|c.922-43C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|7/11|c.922-43C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|8/11|c.922-43C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|9/11|c.922-43C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|4/11|c.922-43C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|5/11|c.922-43C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|6/11|c.922-43C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000331454|protein_coding|8/11|c.922-43C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000331454|protein_coding|9/11|c.922-43C>T||||||,T|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|8/10|c.922-43C>T||||||,T|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|8/10|c.922-43C>T||||||,T|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473491|retained_intron|1/2|n.238-43C>T|||||| 22 39822691 . C T . . ANN=T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|3/11|c.922-17C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|7/11|c.922-17C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|8/11|c.922-17C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|9/11|c.922-17C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|4/11|c.922-17C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|5/11|c.922-17C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|6/11|c.922-17C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000216160|protein_coding|8/11|c.922-17C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000216160|protein_coding|9/11|c.922-17C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|3/11|c.922-17C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|7/11|c.922-17C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|8/11|c.922-17C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|9/11|c.922-17C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|4/11|c.922-17C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|5/11|c.922-17C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|6/11|c.922-17C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000331454|protein_coding|8/11|c.922-17C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000331454|protein_coding|9/11|c.922-17C>T||||||,T|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|8/10|c.922-17C>T||||||,T|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|8/10|c.922-17C>T||||||,T|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473491|retained_intron|1/2|n.238-17C>T|||||| 22 39822699 . C T . . ANN=T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|3/11|c.922-9C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|7/11|c.922-9C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|8/11|c.922-9C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|9/11|c.922-9C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|4/11|c.922-9C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|5/11|c.922-9C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|6/11|c.922-9C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000216160|protein_coding|8/11|c.922-9C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000216160|protein_coding|9/11|c.922-9C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|3/11|c.922-9C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|7/11|c.922-9C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|8/11|c.922-9C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|9/11|c.922-9C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|4/11|c.922-9C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|5/11|c.922-9C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|6/11|c.922-9C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000331454|protein_coding|8/11|c.922-9C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000331454|protein_coding|9/11|c.922-9C>T||||||,T|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|8/10|c.922-9C>T||||||,T|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|8/10|c.922-9C>T||||||,T|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473491|retained_intron|1/2|n.238-9C>T|||||| 22 39822701 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|8/10|c.922-7C>T||||||,T|splice_region_variant&intron_variant|LOW|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|8/10|c.922-7C>T||||||,T|splice_region_variant&intron_variant|LOW|TAB1|ENSG00000100324|transcript|ENST00000473491|retained_intron|1/2|n.238-7C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|3/11|c.922-7C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|7/11|c.922-7C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|8/11|c.922-7C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|9/11|c.922-7C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|4/11|c.922-7C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|5/11|c.922-7C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|6/11|c.922-7C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000216160|protein_coding|8/11|c.922-7C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000216160|protein_coding|9/11|c.922-7C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|3/11|c.922-7C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|7/11|c.922-7C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|8/11|c.922-7C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|9/11|c.922-7C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|4/11|c.922-7C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|5/11|c.922-7C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|6/11|c.922-7C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000331454|protein_coding|8/11|c.922-7C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000331454|protein_coding|9/11|c.922-7C>T|||||| 22 39822748 . C A . . ANN=A|missense_variant|MODERATE|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|9/11|c.962C>A|p.Thr321Asn|1024/3237|962/1515|321/504||,A|missense_variant|MODERATE|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|9/11|c.962C>A|p.Thr321Asn|981/1660|962/1389|321/462||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|3/11|c.962C>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|7/11|c.962C>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|8/11|c.962C>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|9/11|c.962C>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|4/11|c.962C>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|5/11|c.962C>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|6/11|c.962C>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|3/11|c.962C>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|7/11|c.962C>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|8/11|c.962C>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|9/11|c.962C>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|4/11|c.962C>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|5/11|c.962C>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|6/11|c.962C>A||||||,A|non_coding_exon_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473491|retained_intron|2/3|n.278C>A|||||| 22 39822761 . A G . . ANN=G|synonymous_variant|LOW|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|9/11|c.975A>G|p.Ala325Ala|1037/3237|975/1515|325/504||,G|synonymous_variant|LOW|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|9/11|c.975A>G|p.Ala325Ala|994/1660|975/1389|325/462||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|3/11|c.975A>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|7/11|c.975A>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|8/11|c.975A>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|9/11|c.975A>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|4/11|c.975A>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|5/11|c.975A>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|6/11|c.975A>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000216160|protein_coding|9/11|c.975A>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|3/11|c.975A>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|7/11|c.975A>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|8/11|c.975A>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|9/11|c.975A>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|4/11|c.975A>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|5/11|c.975A>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|6/11|c.975A>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000331454|protein_coding|9/11|c.975A>G||||||,G|non_coding_exon_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473491|retained_intron|2/3|n.291A>G|||||| 22 39822851 . C T . . ANN=T|synonymous_variant|LOW|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|9/11|c.1065C>T|p.His355His|1127/3237|1065/1515|355/504||,T|synonymous_variant|LOW|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|9/11|c.1065C>T|p.His355His|1084/1660|1065/1389|355/462||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|3/11|c.1065C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|7/11|c.1065C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|8/11|c.1065C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|9/11|c.1065C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|4/11|c.1065C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|5/11|c.1065C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|6/11|c.1065C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|beta_strand|ENST00000216160|protein_coding|9/11|c.1065C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|3/11|c.1065C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|7/11|c.1065C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|8/11|c.1065C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|9/11|c.1065C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|4/11|c.1065C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|5/11|c.1065C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|6/11|c.1065C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|beta_strand|ENST00000331454|protein_coding|9/11|c.1065C>T||||||,T|non_coding_exon_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473491|retained_intron|2/3|n.381C>T|||||| 22 39822889 . C T . . ANN=T|missense_variant|MODERATE|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|9/11|c.1103C>T|p.Pro368Leu|1165/3237|1103/1515|368/504||,T|missense_variant|MODERATE|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|9/11|c.1103C>T|p.Pro368Leu|1122/1660|1103/1389|368/462||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|3/11|c.1103C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|7/11|c.1103C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|8/11|c.1103C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|9/11|c.1103C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|4/11|c.1103C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|5/11|c.1103C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|6/11|c.1103C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|3/11|c.1103C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|7/11|c.1103C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|8/11|c.1103C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|9/11|c.1103C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|4/11|c.1103C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|5/11|c.1103C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|6/11|c.1103C>T||||||,T|non_coding_exon_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473491|retained_intron|2/3|n.419C>T|||||| 22 39822938 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|9/10|c.1144+8T>C||||||,C|splice_region_variant&intron_variant|LOW|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|9/10|c.1144+8T>C||||||,C|splice_region_variant&intron_variant|LOW|TAB1|ENSG00000100324|transcript|ENST00000473491|retained_intron|2/2|n.460+8T>C|||||| 22 39822949 . C G . . ANN=G|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|9/10|c.1144+19C>G||||||,G|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|9/10|c.1144+19C>G||||||,G|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473491|retained_intron|2/2|n.460+19C>G|||||| 22 39822972 . C T . . ANN=T|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|9/10|c.1144+42C>T||||||,T|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|9/10|c.1144+42C>T||||||,T|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473491|retained_intron|2/2|n.460+42C>T|||||| 22 39822980 . C T . . ANN=T|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|9/10|c.1144+50C>T||||||,T|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|9/10|c.1144+50C>T||||||,T|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473491|retained_intron|2/2|n.460+50C>T|||||| 22 39824055 . G C . . ANN=C|missense_variant|MODERATE|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|10/11|c.1174G>C|p.Val392Leu|1236/3237|1174/1515|392/504||,C|missense_variant|MODERATE|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|10/11|c.1174G>C|p.Val392Leu|1193/1660|1174/1389|392/462||,C|upstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000488859|processed_transcript||n.-1G>C|||||4381|,C|non_coding_exon_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473491|retained_intron|3/3|n.490G>C|||||| 22 39824171 . C G . . ANN=G|synonymous_variant|LOW|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|10/11|c.1290C>G|p.Ala430Ala|1352/3237|1290/1515|430/504||,G|synonymous_variant|LOW|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|10/11|c.1290C>G|p.Ala430Ala|1309/1660|1290/1389|430/462||,G|upstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000488859|processed_transcript||n.-1C>G|||||4265|,G|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473491|retained_intron||n.*574C>G|||||32| 22 39826056 . G A . . ANN=A|synonymous_variant|LOW|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|11/11|c.1344G>A|p.Thr448Thr|1406/3237|1344/1515|448/504||,A|upstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000488859|processed_transcript||n.-1G>A|||||2380|,A|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473491|retained_intron||n.*574G>A|||||1917|,A|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|10/10|c.1307+1868G>A|||||| 22 39826100 . G A . . ANN=A|missense_variant|MODERATE|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|11/11|c.1388G>A|p.Arg463His|1450/3237|1388/1515|463/504||,A|upstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000488859|processed_transcript||n.-1G>A|||||2336|,A|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473491|retained_intron||n.*574G>A|||||1961|,A|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|10/10|c.1307+1912G>A|||||| 22 39826104 . C T . . ANN=T|synonymous_variant|LOW|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|11/11|c.1392C>T|p.Ser464Ser|1454/3237|1392/1515|464/504||,T|upstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000488859|processed_transcript||n.-1C>T|||||2332|,T|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473491|retained_intron||n.*574C>T|||||1965|,T|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|10/10|c.1307+1916C>T|||||| 22 39826111 . G A . . ANN=A|missense_variant|MODERATE|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|11/11|c.1399G>A|p.Ala467Thr|1461/3237|1399/1515|467/504||,A|upstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000488859|processed_transcript||n.-1G>A|||||2325|,A|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473491|retained_intron||n.*574G>A|||||1972|,A|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|10/10|c.1307+1923G>A|||||| 22 39826125 . G A . . ANN=A|synonymous_variant|LOW|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|11/11|c.1413G>A|p.Pro471Pro|1475/3237|1413/1515|471/504||,A|upstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000488859|processed_transcript||n.-1G>A|||||2311|,A|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473491|retained_intron||n.*574G>A|||||1986|,A|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|10/10|c.1307+1937G>A|||||| 22 39826137 . C T . . ANN=T|synonymous_variant|LOW|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|11/11|c.1425C>T|p.Asp475Asp|1487/3237|1425/1515|475/504||,T|sequence_feature|LOW|TAB1|ENSG00000100324|beta_strand|ENST00000216160|protein_coding|11/11|c.1425C>T||||||,T|upstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000488859|processed_transcript||n.-1C>T|||||2299|,T|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473491|retained_intron||n.*574C>T|||||1998|,T|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|10/10|c.1307+1949C>T|||||| 22 39826250 . A G . . ANN=G|3_prime_UTR_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|11/11|c.*23A>G|||||23|,G|upstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000488859|processed_transcript||n.-1A>G|||||2186|,G|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473491|retained_intron||n.*574A>G|||||2111|,G|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|10/10|c.1307+2062A>G|||||| 22 39832609 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|11/11|c.*33G>A|||||33|,A|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding||c.*1577G>A|||||4722|,A|non_coding_exon_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000488859|processed_transcript|2/2|n.348G>A|||||| 22 39883344 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|MGAT3|ENSG00000128268|transcript|ENST00000341184|protein_coding|1/1|c.-1-8T>C||||||,C|splice_region_variant&intron_variant|LOW|MGAT3|ENSG00000128268|transcript|ENST00000429402|protein_coding|1/1|c.-1-8T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|splice_region_variant&intron_variant|LOW|MGAT3|ENSG00000128268|transcript|ENST00000418314|protein_coding|2/2|c.84-8T>C||||||WARNING_TRANSCRIPT_INCOMPLETE 22 39883384 . T C . . ANN=C|missense_variant|MODERATE|MGAT3|ENSG00000128268|transcript|ENST00000341184|protein_coding|2/2|c.32T>C|p.Met11Thr|247/5062|32/1602|11/533||,C|missense_variant|MODERATE|MGAT3|ENSG00000128268|transcript|ENST00000429402|protein_coding|2/2|c.32T>C|p.Met11Thr|118/569|32/483|11/160||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|MGAT3|ENSG00000128268|transcript|ENST00000418314|protein_coding|3/3|c.116T>C|p.Met39Thr|343/552|116/325|39/107||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|MGAT3|ENSG00000128268|transmembrane_region:Transmembrane_region|ENST00000341184|protein_coding|2/2|c.32T>C|||||| 22 39883434 . A T . . ANN=T|missense_variant|MODERATE|MGAT3|ENSG00000128268|transcript|ENST00000341184|protein_coding|2/2|c.82A>T|p.Thr28Ser|297/5062|82/1602|28/533||,T|missense_variant|MODERATE|MGAT3|ENSG00000128268|transcript|ENST00000429402|protein_coding|2/2|c.82A>T|p.Thr28Ser|168/569|82/483|28/160||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|MGAT3|ENSG00000128268|transcript|ENST00000418314|protein_coding|3/3|c.166A>T|p.Thr56Ser|393/552|166/325|56/107||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|MGAT3|ENSG00000128268|topological_domain:Lumenal|ENST00000341184|protein_coding|2/2|c.82A>T|||||| 22 39883448 . C CA . . ANN=A|frameshift_variant|HIGH|MGAT3|ENSG00000128268|transcript|ENST00000341184|protein_coding|2/2|c.97dupA|p.Thr33fs|313/5062|98/1602|33/533||INFO_REALIGN_3_PRIME,A|frameshift_variant|HIGH|MGAT3|ENSG00000128268|transcript|ENST00000429402|protein_coding|2/2|c.97dupA|p.Thr33fs|184/569|98/483|33/160||WARNING_TRANSCRIPT_NO_STOP_CODON&INFO_REALIGN_3_PRIME,A|frameshift_variant|HIGH|MGAT3|ENSG00000128268|transcript|ENST00000418314|protein_coding|3/3|c.181dupA|p.Thr61fs|409/552|182/325|61/107||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME,A|sequence_feature|LOW|MGAT3|ENSG00000128268|topological_domain:Lumenal|ENST00000341184|protein_coding|2/2|c.96_97insA||||||;LOF=(MGAT3|ENSG00000128268|3|1.00) 22 39883517 . G T . . ANN=T|synonymous_variant|LOW|MGAT3|ENSG00000128268|transcript|ENST00000341184|protein_coding|2/2|c.165G>T|p.Pro55Pro|380/5062|165/1602|55/533||,T|synonymous_variant|LOW|MGAT3|ENSG00000128268|transcript|ENST00000429402|protein_coding|2/2|c.165G>T|p.Pro55Pro|251/569|165/483|55/160||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|MGAT3|ENSG00000128268|transcript|ENST00000418314|protein_coding|3/3|c.249G>T|p.Pro83Pro|476/552|249/325|83/107||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|MGAT3|ENSG00000128268|topological_domain:Lumenal|ENST00000341184|protein_coding|2/2|c.165G>T||||||,T|sequence_feature|LOW|MGAT3|ENSG00000128268|compositionally_biased_region:Pro-rich|ENST00000341184|protein_coding|2/2|c.165G>T|||||| 22 39883525 . C T . . ANN=T|missense_variant|MODERATE|MGAT3|ENSG00000128268|transcript|ENST00000341184|protein_coding|2/2|c.173C>T|p.Pro58Leu|388/5062|173/1602|58/533||,T|missense_variant|MODERATE|MGAT3|ENSG00000128268|transcript|ENST00000429402|protein_coding|2/2|c.173C>T|p.Pro58Leu|259/569|173/483|58/160||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|MGAT3|ENSG00000128268|transcript|ENST00000418314|protein_coding|3/3|c.257C>T|p.Pro86Leu|484/552|257/325|86/107||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|MGAT3|ENSG00000128268|topological_domain:Lumenal|ENST00000341184|protein_coding|2/2|c.173C>T||||||,T|sequence_feature|LOW|MGAT3|ENSG00000128268|compositionally_biased_region:Pro-rich|ENST00000341184|protein_coding|2/2|c.173C>T|||||| 22 39883564 . G A . . ANN=A|missense_variant|MODERATE|MGAT3|ENSG00000128268|transcript|ENST00000341184|protein_coding|2/2|c.212G>A|p.Arg71His|427/5062|212/1602|71/533||,A|missense_variant|MODERATE|MGAT3|ENSG00000128268|transcript|ENST00000429402|protein_coding|2/2|c.212G>A|p.Arg71His|298/569|212/483|71/160||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|MGAT3|ENSG00000128268|transcript|ENST00000418314|protein_coding|3/3|c.296G>A|p.Arg99His|523/552|296/325|99/107||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|MGAT3|ENSG00000128268|topological_domain:Lumenal|ENST00000341184|protein_coding|2/2|c.212G>A||||||,A|sequence_feature|LOW|MGAT3|ENSG00000128268|compositionally_biased_region:Pro-rich|ENST00000341184|protein_coding|2/2|c.212G>A|||||| 22 39883604 . G T . . ANN=T|synonymous_variant|LOW|MGAT3|ENSG00000128268|transcript|ENST00000341184|protein_coding|2/2|c.252G>T|p.Leu84Leu|467/5062|252/1602|84/533||,T|synonymous_variant|LOW|MGAT3|ENSG00000128268|transcript|ENST00000429402|protein_coding|2/2|c.252G>T|p.Leu84Leu|338/569|252/483|84/160||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|MGAT3|ENSG00000128268|topological_domain:Lumenal|ENST00000341184|protein_coding|2/2|c.252G>T||||||,T|sequence_feature|LOW|MGAT3|ENSG00000128268|compositionally_biased_region:Pro-rich|ENST00000341184|protein_coding|2/2|c.252G>T||||||,T|downstream_gene_variant|MODIFIER|MGAT3|ENSG00000128268|transcript|ENST00000418314|protein_coding||c.*552G>T|||||11|WARNING_TRANSCRIPT_INCOMPLETE 22 39883605 . C T . . ANN=T|missense_variant|MODERATE|MGAT3|ENSG00000128268|transcript|ENST00000341184|protein_coding|2/2|c.253C>T|p.Pro85Ser|468/5062|253/1602|85/533||,T|missense_variant|MODERATE|MGAT3|ENSG00000128268|transcript|ENST00000429402|protein_coding|2/2|c.253C>T|p.Pro85Ser|339/569|253/483|85/160||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|MGAT3|ENSG00000128268|topological_domain:Lumenal|ENST00000341184|protein_coding|2/2|c.253C>T||||||,T|sequence_feature|LOW|MGAT3|ENSG00000128268|compositionally_biased_region:Pro-rich|ENST00000341184|protein_coding|2/2|c.253C>T||||||,T|downstream_gene_variant|MODIFIER|MGAT3|ENSG00000128268|transcript|ENST00000418314|protein_coding||c.*552C>T|||||12|WARNING_TRANSCRIPT_INCOMPLETE 22 39883629 . C G . . ANN=G|missense_variant|MODERATE|MGAT3|ENSG00000128268|transcript|ENST00000341184|protein_coding|2/2|c.277C>G|p.Leu93Val|492/5062|277/1602|93/533||,G|missense_variant|MODERATE|MGAT3|ENSG00000128268|transcript|ENST00000429402|protein_coding|2/2|c.277C>G|p.Leu93Val|363/569|277/483|93/160||WARNING_TRANSCRIPT_NO_STOP_CODON,G|sequence_feature|LOW|MGAT3|ENSG00000128268|topological_domain:Lumenal|ENST00000341184|protein_coding|2/2|c.277C>G||||||,G|downstream_gene_variant|MODIFIER|MGAT3|ENSG00000128268|transcript|ENST00000418314|protein_coding||c.*552C>G|||||36|WARNING_TRANSCRIPT_INCOMPLETE 22 39883736 . G C . . ANN=C|synonymous_variant|LOW|MGAT3|ENSG00000128268|transcript|ENST00000341184|protein_coding|2/2|c.384G>C|p.Pro128Pro|599/5062|384/1602|128/533||,C|synonymous_variant|LOW|MGAT3|ENSG00000128268|transcript|ENST00000429402|protein_coding|2/2|c.384G>C|p.Pro128Pro|470/569|384/483|128/160||WARNING_TRANSCRIPT_NO_STOP_CODON,C|sequence_feature|LOW|MGAT3|ENSG00000128268|topological_domain:Lumenal|ENST00000341184|protein_coding|2/2|c.384G>C||||||,C|downstream_gene_variant|MODIFIER|MGAT3|ENSG00000128268|transcript|ENST00000418314|protein_coding||c.*552G>C|||||143|WARNING_TRANSCRIPT_INCOMPLETE 22 39883927 . A C . . ANN=C|missense_variant|MODERATE|MGAT3|ENSG00000128268|transcript|ENST00000341184|protein_coding|2/2|c.575A>C|p.Asn192Thr|790/5062|575/1602|192/533||,C|sequence_feature|LOW|MGAT3|ENSG00000128268|topological_domain:Lumenal|ENST00000341184|protein_coding|2/2|c.575A>C||||||,C|downstream_gene_variant|MODIFIER|MGAT3|ENSG00000128268|transcript|ENST00000429402|protein_coding||c.*569A>C|||||92|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|MGAT3|ENSG00000128268|transcript|ENST00000418314|protein_coding||c.*552A>C|||||334|WARNING_TRANSCRIPT_INCOMPLETE 22 39884279 . C T . . ANN=T|synonymous_variant|LOW|MGAT3|ENSG00000128268|transcript|ENST00000341184|protein_coding|2/2|c.927C>T|p.Pro309Pro|1142/5062|927/1602|309/533||,T|sequence_feature|LOW|MGAT3|ENSG00000128268|topological_domain:Lumenal|ENST00000341184|protein_coding|2/2|c.927C>T||||||,T|downstream_gene_variant|MODIFIER|MGAT3|ENSG00000128268|transcript|ENST00000429402|protein_coding||c.*569C>T|||||444|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|MGAT3|ENSG00000128268|transcript|ENST00000418314|protein_coding||c.*552C>T|||||686|WARNING_TRANSCRIPT_INCOMPLETE 22 39884315 . C T . . ANN=T|synonymous_variant|LOW|MGAT3|ENSG00000128268|transcript|ENST00000341184|protein_coding|2/2|c.963C>T|p.Ile321Ile|1178/5062|963/1602|321/533||,T|sequence_feature|LOW|MGAT3|ENSG00000128268|topological_domain:Lumenal|ENST00000341184|protein_coding|2/2|c.963C>T||||||,T|downstream_gene_variant|MODIFIER|MGAT3|ENSG00000128268|transcript|ENST00000429402|protein_coding||c.*569C>T|||||480|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|MGAT3|ENSG00000128268|transcript|ENST00000418314|protein_coding||c.*552C>T|||||722|WARNING_TRANSCRIPT_INCOMPLETE 22 39884357 . C G . . ANN=G|synonymous_variant|LOW|MGAT3|ENSG00000128268|transcript|ENST00000341184|protein_coding|2/2|c.1005C>G|p.Gly335Gly|1220/5062|1005/1602|335/533||,G|sequence_feature|LOW|MGAT3|ENSG00000128268|topological_domain:Lumenal|ENST00000341184|protein_coding|2/2|c.1005C>G||||||,G|downstream_gene_variant|MODIFIER|MGAT3|ENSG00000128268|transcript|ENST00000429402|protein_coding||c.*569C>G|||||522|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|MGAT3|ENSG00000128268|transcript|ENST00000418314|protein_coding||c.*552C>G|||||764|WARNING_TRANSCRIPT_INCOMPLETE 22 39884393 . G A . . ANN=A|synonymous_variant|LOW|MGAT3|ENSG00000128268|transcript|ENST00000341184|protein_coding|2/2|c.1041G>A|p.Ser347Ser|1256/5062|1041/1602|347/533||,A|sequence_feature|LOW|MGAT3|ENSG00000128268|topological_domain:Lumenal|ENST00000341184|protein_coding|2/2|c.1041G>A||||||,A|downstream_gene_variant|MODIFIER|MGAT3|ENSG00000128268|transcript|ENST00000429402|protein_coding||c.*569G>A|||||558|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|MGAT3|ENSG00000128268|transcript|ENST00000418314|protein_coding||c.*552G>A|||||800|WARNING_TRANSCRIPT_INCOMPLETE 22 39884498 . C G . . ANN=G|synonymous_variant|LOW|MGAT3|ENSG00000128268|transcript|ENST00000341184|protein_coding|2/2|c.1146C>G|p.Arg382Arg|1361/5062|1146/1602|382/533||,G|sequence_feature|LOW|MGAT3|ENSG00000128268|topological_domain:Lumenal|ENST00000341184|protein_coding|2/2|c.1146C>G||||||,G|downstream_gene_variant|MODIFIER|MGAT3|ENSG00000128268|transcript|ENST00000429402|protein_coding||c.*569C>G|||||663|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|MGAT3|ENSG00000128268|transcript|ENST00000418314|protein_coding||c.*552C>G|||||905|WARNING_TRANSCRIPT_INCOMPLETE 22 39884582 . C T . . ANN=T|synonymous_variant|LOW|MGAT3|ENSG00000128268|transcript|ENST00000341184|protein_coding|2/2|c.1230C>T|p.Ser410Ser|1445/5062|1230/1602|410/533||,T|sequence_feature|LOW|MGAT3|ENSG00000128268|topological_domain:Lumenal|ENST00000341184|protein_coding|2/2|c.1230C>T||||||,T|downstream_gene_variant|MODIFIER|MGAT3|ENSG00000128268|transcript|ENST00000429402|protein_coding||c.*569C>T|||||747|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|MGAT3|ENSG00000128268|transcript|ENST00000418314|protein_coding||c.*552C>T|||||989|WARNING_TRANSCRIPT_INCOMPLETE 22 39884623 . C A . . ANN=A|missense_variant|MODERATE|MGAT3|ENSG00000128268|transcript|ENST00000341184|protein_coding|2/2|c.1271C>A|p.Thr424Lys|1486/5062|1271/1602|424/533||,A|sequence_feature|LOW|MGAT3|ENSG00000128268|topological_domain:Lumenal|ENST00000341184|protein_coding|2/2|c.1271C>A||||||,A|downstream_gene_variant|MODIFIER|MGAT3|ENSG00000128268|transcript|ENST00000429402|protein_coding||c.*569C>A|||||788|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|MGAT3|ENSG00000128268|transcript|ENST00000418314|protein_coding||c.*552C>A|||||1030|WARNING_TRANSCRIPT_INCOMPLETE 22 39884847 . G C . . ANN=C|missense_variant|MODERATE|MGAT3|ENSG00000128268|transcript|ENST00000341184|protein_coding|2/2|c.1495G>C|p.Asp499His|1710/5062|1495/1602|499/533||,C|sequence_feature|LOW|MGAT3|ENSG00000128268|topological_domain:Lumenal|ENST00000341184|protein_coding|2/2|c.1495G>C||||||,C|downstream_gene_variant|MODIFIER|MGAT3|ENSG00000128268|transcript|ENST00000429402|protein_coding||c.*569G>C|||||1012|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|MGAT3|ENSG00000128268|transcript|ENST00000418314|protein_coding||c.*552G>C|||||1254|WARNING_TRANSCRIPT_INCOMPLETE 22 39884878 . C T . . ANN=T|missense_variant|MODERATE|MGAT3|ENSG00000128268|transcript|ENST00000341184|protein_coding|2/2|c.1526C>T|p.Ala509Val|1741/5062|1526/1602|509/533||,T|sequence_feature|LOW|MGAT3|ENSG00000128268|topological_domain:Lumenal|ENST00000341184|protein_coding|2/2|c.1526C>T||||||,T|downstream_gene_variant|MODIFIER|MGAT3|ENSG00000128268|transcript|ENST00000429402|protein_coding||c.*569C>T|||||1043|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|MGAT3|ENSG00000128268|transcript|ENST00000418314|protein_coding||c.*552C>T|||||1285|WARNING_TRANSCRIPT_INCOMPLETE 22 39884906 . C G . . ANN=G|synonymous_variant|LOW|MGAT3|ENSG00000128268|transcript|ENST00000341184|protein_coding|2/2|c.1554C>G|p.Pro518Pro|1769/5062|1554/1602|518/533||,G|sequence_feature|LOW|MGAT3|ENSG00000128268|topological_domain:Lumenal|ENST00000341184|protein_coding|2/2|c.1554C>G||||||,G|downstream_gene_variant|MODIFIER|MGAT3|ENSG00000128268|transcript|ENST00000429402|protein_coding||c.*569C>G|||||1071|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|MGAT3|ENSG00000128268|transcript|ENST00000418314|protein_coding||c.*552C>G|||||1313|WARNING_TRANSCRIPT_INCOMPLETE 22 39884910 . G A . . ANN=A|missense_variant|MODERATE|MGAT3|ENSG00000128268|transcript|ENST00000341184|protein_coding|2/2|c.1558G>A|p.Gly520Arg|1773/5062|1558/1602|520/533||,A|sequence_feature|LOW|MGAT3|ENSG00000128268|topological_domain:Lumenal|ENST00000341184|protein_coding|2/2|c.1558G>A||||||,A|downstream_gene_variant|MODIFIER|MGAT3|ENSG00000128268|transcript|ENST00000429402|protein_coding||c.*569G>A|||||1075|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|MGAT3|ENSG00000128268|transcript|ENST00000418314|protein_coding||c.*552G>A|||||1317|WARNING_TRANSCRIPT_INCOMPLETE 22 39884925 . C T . . ANN=T|missense_variant|MODERATE|MGAT3|ENSG00000128268|transcript|ENST00000341184|protein_coding|2/2|c.1573C>T|p.Arg525Trp|1788/5062|1573/1602|525/533||,T|sequence_feature|LOW|MGAT3|ENSG00000128268|topological_domain:Lumenal|ENST00000341184|protein_coding|2/2|c.1573C>T||||||,T|downstream_gene_variant|MODIFIER|MGAT3|ENSG00000128268|transcript|ENST00000429402|protein_coding||c.*569C>T|||||1090|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|MGAT3|ENSG00000128268|transcript|ENST00000418314|protein_coding||c.*552C>T|||||1332|WARNING_TRANSCRIPT_INCOMPLETE 22 39884942 . G A . . ANN=A|synonymous_variant|LOW|MGAT3|ENSG00000128268|transcript|ENST00000341184|protein_coding|2/2|c.1590G>A|p.Glu530Glu|1805/5062|1590/1602|530/533||,A|sequence_feature|LOW|MGAT3|ENSG00000128268|topological_domain:Lumenal|ENST00000341184|protein_coding|2/2|c.1590G>A||||||,A|downstream_gene_variant|MODIFIER|MGAT3|ENSG00000128268|transcript|ENST00000429402|protein_coding||c.*569G>A|||||1107|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|MGAT3|ENSG00000128268|transcript|ENST00000418314|protein_coding||c.*552G>A|||||1349|WARNING_TRANSCRIPT_INCOMPLETE 22 39884987 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|MGAT3|ENSG00000128268|transcript|ENST00000341184|protein_coding|2/2|c.*33C>T|||||33|,T|downstream_gene_variant|MODIFIER|MGAT3|ENSG00000128268|transcript|ENST00000429402|protein_coding||c.*569C>T|||||1152|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|MGAT3|ENSG00000128268|transcript|ENST00000418314|protein_coding||c.*552C>T|||||1394|WARNING_TRANSCRIPT_INCOMPLETE 22 39907368 . G A . . ANN=A|synonymous_variant|LOW|MIEF1|ENSG00000100335|transcript|ENST00000402881|protein_coding|3/7|c.69G>A|p.Val23Val|566/2269|69/1437|23/478||,A|synonymous_variant|LOW|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding|3/6|c.69G>A|p.Val23Val|493/5625|69/1392|23/463||,A|synonymous_variant|LOW|MIEF1|ENSG00000100335|transcript|ENST00000404569|protein_coding|4/7|c.69G>A|p.Val23Val|619/3797|69/1392|23/463||,A|synonymous_variant|LOW|MIEF1|ENSG00000100335|transcript|ENST00000434364|protein_coding|4/4|c.69G>A|p.Val23Val|685/744|69/128|23/41||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Mitochondrial_intermembrane|ENST00000404569|protein_coding|4/7|c.69G>A||||||,A|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|3/6|n.69G>A||||||,A|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000428069|nonsense_mediated_decay|4/7|n.69G>A|||||| 22 39907422 . C T . . ANN=T|synonymous_variant|LOW|MIEF1|ENSG00000100335|transcript|ENST00000402881|protein_coding|3/7|c.123C>T|p.Ile41Ile|620/2269|123/1437|41/478||,T|synonymous_variant|LOW|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding|3/6|c.123C>T|p.Ile41Ile|547/5625|123/1392|41/463||,T|synonymous_variant|LOW|MIEF1|ENSG00000100335|transcript|ENST00000404569|protein_coding|4/7|c.123C>T|p.Ile41Ile|673/3797|123/1392|41/463||,T|synonymous_variant|LOW|MIEF1|ENSG00000100335|transcript|ENST00000434364|protein_coding|4/4|c.123C>T|p.Ile41Ile|739/744|123/128|41/41||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|MIEF1|ENSG00000100335|transmembrane_region:Transmembrane_region|ENST00000404569|protein_coding|4/7|c.123C>T||||||,T|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|3/6|n.123C>T||||||,T|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000428069|nonsense_mediated_decay|4/7|n.123C>T|||||| 22 39907906 . C T . . ANN=T|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000402881|protein_coding|4/7|c.197C>T|p.Ser66Leu|694/2269|197/1437|66/478||,T|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding|4/6|c.197C>T|p.Ser66Leu|621/5625|197/1392|66/463||,T|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000404569|protein_coding|5/7|c.197C>T|p.Ser66Leu|747/3797|197/1392|66/463||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|7/7|c.197C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|5/7|c.197C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|4/7|c.197C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|6/7|c.197C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|region_of_interest:Dimerization|ENST00000404569|protein_coding|5/7|c.197C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|region_of_interest:Dimerization|ENST00000404569|protein_coding|6/7|c.197C>T||||||,T|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000434364|protein_coding||c.*744C>T|||||479|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|4/6|n.197C>T||||||,T|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000428069|nonsense_mediated_decay|5/7|n.197C>T|||||| 22 39907916 . G A . . ANN=A|synonymous_variant|LOW|MIEF1|ENSG00000100335|transcript|ENST00000402881|protein_coding|4/7|c.207G>A|p.Arg69Arg|704/2269|207/1437|69/478||,A|synonymous_variant|LOW|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding|4/6|c.207G>A|p.Arg69Arg|631/5625|207/1392|69/463||,A|synonymous_variant|LOW|MIEF1|ENSG00000100335|transcript|ENST00000404569|protein_coding|5/7|c.207G>A|p.Arg69Arg|757/3797|207/1392|69/463||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|7/7|c.207G>A||||||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|5/7|c.207G>A||||||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|4/7|c.207G>A||||||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|6/7|c.207G>A||||||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|region_of_interest:Dimerization|ENST00000404569|protein_coding|5/7|c.207G>A||||||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|region_of_interest:Dimerization|ENST00000404569|protein_coding|6/7|c.207G>A||||||,A|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000434364|protein_coding||c.*744G>A|||||489|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|4/6|n.207G>A||||||,A|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000428069|nonsense_mediated_decay|5/7|n.207G>A|||||| 22 39907917 . A T . . ANN=T|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000402881|protein_coding|4/7|c.208A>T|p.Ser70Cys|705/2269|208/1437|70/478||,T|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding|4/6|c.208A>T|p.Ser70Cys|632/5625|208/1392|70/463||,T|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000404569|protein_coding|5/7|c.208A>T|p.Ser70Cys|758/3797|208/1392|70/463||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|7/7|c.208A>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|5/7|c.208A>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|4/7|c.208A>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|6/7|c.208A>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|region_of_interest:Dimerization|ENST00000404569|protein_coding|5/7|c.208A>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|region_of_interest:Dimerization|ENST00000404569|protein_coding|6/7|c.208A>T||||||,T|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000434364|protein_coding||c.*744A>T|||||490|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|4/6|n.208A>T||||||,T|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000428069|nonsense_mediated_decay|5/7|n.208A>T|||||| 22 39907934 . C T . . ANN=T|synonymous_variant|LOW|MIEF1|ENSG00000100335|transcript|ENST00000402881|protein_coding|4/7|c.225C>T|p.Asn75Asn|722/2269|225/1437|75/478||,T|synonymous_variant|LOW|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding|4/6|c.225C>T|p.Asn75Asn|649/5625|225/1392|75/463||,T|synonymous_variant|LOW|MIEF1|ENSG00000100335|transcript|ENST00000404569|protein_coding|5/7|c.225C>T|p.Asn75Asn|775/3797|225/1392|75/463||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|7/7|c.225C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|5/7|c.225C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|4/7|c.225C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|6/7|c.225C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|region_of_interest:Dimerization|ENST00000404569|protein_coding|5/7|c.225C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|region_of_interest:Dimerization|ENST00000404569|protein_coding|6/7|c.225C>T||||||,T|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000434364|protein_coding||c.*744C>T|||||507|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|4/6|n.225C>T||||||,T|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000428069|nonsense_mediated_decay|5/7|n.225C>T|||||| 22 39907941 . G C . . ANN=C|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000402881|protein_coding|4/7|c.232G>C|p.Gly78Arg|729/2269|232/1437|78/478||,C|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding|4/6|c.232G>C|p.Gly78Arg|656/5625|232/1392|78/463||,C|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000404569|protein_coding|5/7|c.232G>C|p.Gly78Arg|782/3797|232/1392|78/463||,C|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|7/7|c.232G>C||||||,C|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|5/7|c.232G>C||||||,C|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|4/7|c.232G>C||||||,C|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|6/7|c.232G>C||||||,C|sequence_feature|LOW|MIEF1|ENSG00000100335|region_of_interest:Dimerization|ENST00000404569|protein_coding|5/7|c.232G>C||||||,C|sequence_feature|LOW|MIEF1|ENSG00000100335|region_of_interest:Dimerization|ENST00000404569|protein_coding|6/7|c.232G>C||||||,C|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000434364|protein_coding||c.*744G>C|||||514|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|4/6|n.232G>C||||||,C|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000428069|nonsense_mediated_decay|5/7|n.232G>C|||||| 22 39907975 . C T . . ANN=T|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000402881|protein_coding|4/7|c.266C>T|p.Thr89Met|763/2269|266/1437|89/478||,T|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding|4/6|c.266C>T|p.Thr89Met|690/5625|266/1392|89/463||,T|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000404569|protein_coding|5/7|c.266C>T|p.Thr89Met|816/3797|266/1392|89/463||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|7/7|c.266C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|5/7|c.266C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|4/7|c.266C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|6/7|c.266C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|region_of_interest:Dimerization|ENST00000404569|protein_coding|5/7|c.266C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|region_of_interest:Dimerization|ENST00000404569|protein_coding|6/7|c.266C>T||||||,T|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000434364|protein_coding||c.*744C>T|||||548|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|4/6|n.266C>T||||||,T|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000428069|nonsense_mediated_decay|5/7|n.266C>T|||||| 22 39908249 . C T . . ANN=T|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000402881|protein_coding|5/7|c.335C>T|p.Pro112Leu|832/2269|335/1437|112/478||,T|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding|5/6|c.335C>T|p.Pro112Leu|759/5625|335/1392|112/463||,T|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000404569|protein_coding|6/7|c.335C>T|p.Pro112Leu|885/3797|335/1392|112/463||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|7/7|c.335C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|5/7|c.335C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|4/7|c.335C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|6/7|c.335C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|region_of_interest:Dimerization|ENST00000404569|protein_coding|5/7|c.335C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|region_of_interest:Dimerization|ENST00000404569|protein_coding|6/7|c.335C>T||||||,T|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000434364|protein_coding||c.*744C>T|||||822|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|4/5|n.323-74C>T||||||,T|intron_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000428069|nonsense_mediated_decay|5/6|n.323-74C>T|||||| 22 39908255 . G A . . ANN=A|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000402881|protein_coding|5/7|c.341G>A|p.Arg114Gln|838/2269|341/1437|114/478||,A|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding|5/6|c.341G>A|p.Arg114Gln|765/5625|341/1392|114/463||,A|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000404569|protein_coding|6/7|c.341G>A|p.Arg114Gln|891/3797|341/1392|114/463||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|7/7|c.341G>A||||||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|5/7|c.341G>A||||||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|4/7|c.341G>A||||||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|6/7|c.341G>A||||||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|region_of_interest:Dimerization|ENST00000404569|protein_coding|5/7|c.341G>A||||||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|region_of_interest:Dimerization|ENST00000404569|protein_coding|6/7|c.341G>A||||||,A|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000434364|protein_coding||c.*744G>A|||||828|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|4/5|n.323-68G>A||||||,A|intron_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000428069|nonsense_mediated_decay|5/6|n.323-68G>A|||||| 22 39908419 . C T . . ANN=T|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000402881|protein_coding|5/7|c.505C>T|p.Arg169Trp|1002/2269|505/1437|169/478||,T|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding|5/6|c.505C>T|p.Arg169Trp|929/5625|505/1392|169/463||,T|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000404569|protein_coding|6/7|c.505C>T|p.Arg169Trp|1055/3797|505/1392|169/463||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|7/7|c.505C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|5/7|c.505C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|4/7|c.505C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|6/7|c.505C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|region_of_interest:Dimerization|ENST00000404569|protein_coding|5/7|c.505C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|region_of_interest:Dimerization|ENST00000404569|protein_coding|6/7|c.505C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|helix|ENST00000404569|protein_coding|6/7|c.505C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|region_of_interest:Important_for_interaction_with_DNM1L|ENST00000404569|protein_coding|6/7|c.505C>T||||||,T|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000434364|protein_coding||c.*744C>T|||||992|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|5/6|n.419C>T||||||,T|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000428069|nonsense_mediated_decay|6/7|n.419C>T|||||| 22 39909600 . G A . . ANN=A|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000402881|protein_coding|6/7|c.664G>A|p.Asp222Asn|1161/2269|664/1437|222/478||,A|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding|6/6|c.664G>A|p.Asp222Asn|1088/5625|664/1392|222/463||,A|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000404569|protein_coding|7/7|c.664G>A|p.Asp222Asn|1214/3797|664/1392|222/463||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|7/7|c.664G>A||||||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|5/7|c.664G>A||||||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|4/7|c.664G>A||||||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|6/7|c.664G>A||||||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|helix|ENST00000404569|protein_coding|7/7|c.664G>A||||||,A|3_prime_UTR_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|6/6|n.*131G>A|||||1153|,A|3_prime_UTR_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000428069|nonsense_mediated_decay|7/7|n.*131G>A|||||1153|,A|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000434364|protein_coding||c.*744G>A|||||2173|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|6/6|n.*131G>A||||||,A|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000428069|nonsense_mediated_decay|7/7|n.*131G>A|||||| 22 39909614 . T C . . ANN=C|synonymous_variant|LOW|MIEF1|ENSG00000100335|transcript|ENST00000402881|protein_coding|6/7|c.678T>C|p.Asn226Asn|1175/2269|678/1437|226/478||,C|synonymous_variant|LOW|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding|6/6|c.678T>C|p.Asn226Asn|1102/5625|678/1392|226/463||,C|synonymous_variant|LOW|MIEF1|ENSG00000100335|transcript|ENST00000404569|protein_coding|7/7|c.678T>C|p.Asn226Asn|1228/3797|678/1392|226/463||,C|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|7/7|c.678T>C||||||,C|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|5/7|c.678T>C||||||,C|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|4/7|c.678T>C||||||,C|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|6/7|c.678T>C||||||,C|3_prime_UTR_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|6/6|n.*145T>C|||||1167|,C|3_prime_UTR_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000428069|nonsense_mediated_decay|7/7|n.*145T>C|||||1167|,C|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000434364|protein_coding||c.*744T>C|||||2187|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|6/6|n.*145T>C||||||,C|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000428069|nonsense_mediated_decay|7/7|n.*145T>C|||||| 22 39909722 . C T . . ANN=T|synonymous_variant|LOW|MIEF1|ENSG00000100335|transcript|ENST00000402881|protein_coding|6/7|c.786C>T|p.Val262Val|1283/2269|786/1437|262/478||,T|synonymous_variant|LOW|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding|6/6|c.786C>T|p.Val262Val|1210/5625|786/1392|262/463||,T|synonymous_variant|LOW|MIEF1|ENSG00000100335|transcript|ENST00000404569|protein_coding|7/7|c.786C>T|p.Val262Val|1336/3797|786/1392|262/463||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|7/7|c.786C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|5/7|c.786C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|4/7|c.786C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|6/7|c.786C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|helix|ENST00000404569|protein_coding|7/7|c.786C>T||||||,T|3_prime_UTR_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|6/6|n.*253C>T|||||1275|,T|3_prime_UTR_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000428069|nonsense_mediated_decay|7/7|n.*253C>T|||||1275|,T|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000434364|protein_coding||c.*744C>T|||||2295|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|6/6|n.*253C>T||||||,T|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000428069|nonsense_mediated_decay|7/7|n.*253C>T|||||| 22 39909726 . G A . . ANN=A|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000402881|protein_coding|6/7|c.790G>A|p.Asp264Asn|1287/2269|790/1437|264/478||,A|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding|6/6|c.790G>A|p.Asp264Asn|1214/5625|790/1392|264/463||,A|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000404569|protein_coding|7/7|c.790G>A|p.Asp264Asn|1340/3797|790/1392|264/463||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|7/7|c.790G>A||||||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|5/7|c.790G>A||||||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|4/7|c.790G>A||||||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|6/7|c.790G>A||||||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|helix|ENST00000404569|protein_coding|7/7|c.790G>A||||||,A|3_prime_UTR_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|6/6|n.*257G>A|||||1279|,A|3_prime_UTR_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000428069|nonsense_mediated_decay|7/7|n.*257G>A|||||1279|,A|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000434364|protein_coding||c.*744G>A|||||2299|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|6/6|n.*257G>A||||||,A|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000428069|nonsense_mediated_decay|7/7|n.*257G>A|||||| 22 39909787 . A G . . ANN=G|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000402881|protein_coding|6/7|c.851A>G|p.Asp284Gly|1348/2269|851/1437|284/478||,G|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding|6/6|c.851A>G|p.Asp284Gly|1275/5625|851/1392|284/463||,G|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000404569|protein_coding|7/7|c.851A>G|p.Asp284Gly|1401/3797|851/1392|284/463||,G|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|7/7|c.851A>G||||||,G|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|5/7|c.851A>G||||||,G|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|4/7|c.851A>G||||||,G|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|6/7|c.851A>G||||||,G|3_prime_UTR_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|6/6|n.*318A>G|||||1340|,G|3_prime_UTR_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000428069|nonsense_mediated_decay|7/7|n.*318A>G|||||1340|,G|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000434364|protein_coding||c.*744A>G|||||2360|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|6/6|n.*318A>G||||||,G|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000428069|nonsense_mediated_decay|7/7|n.*318A>G|||||| 22 39909821 . C T . . ANN=T|synonymous_variant|LOW|MIEF1|ENSG00000100335|transcript|ENST00000402881|protein_coding|6/7|c.885C>T|p.Ala295Ala|1382/2269|885/1437|295/478||,T|synonymous_variant|LOW|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding|6/6|c.885C>T|p.Ala295Ala|1309/5625|885/1392|295/463||,T|synonymous_variant|LOW|MIEF1|ENSG00000100335|transcript|ENST00000404569|protein_coding|7/7|c.885C>T|p.Ala295Ala|1435/3797|885/1392|295/463||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|7/7|c.885C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|5/7|c.885C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|4/7|c.885C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|6/7|c.885C>T||||||,T|3_prime_UTR_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|6/6|n.*352C>T|||||1374|,T|3_prime_UTR_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000428069|nonsense_mediated_decay|7/7|n.*352C>T|||||1374|,T|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000434364|protein_coding||c.*744C>T|||||2394|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|6/6|n.*352C>T||||||,T|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000428069|nonsense_mediated_decay|7/7|n.*352C>T|||||| 22 39909836 . G A . . ANN=A|synonymous_variant|LOW|MIEF1|ENSG00000100335|transcript|ENST00000402881|protein_coding|6/7|c.900G>A|p.Val300Val|1397/2269|900/1437|300/478||,A|synonymous_variant|LOW|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding|6/6|c.900G>A|p.Val300Val|1324/5625|900/1392|300/463||,A|synonymous_variant|LOW|MIEF1|ENSG00000100335|transcript|ENST00000404569|protein_coding|7/7|c.900G>A|p.Val300Val|1450/3797|900/1392|300/463||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|7/7|c.900G>A||||||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|5/7|c.900G>A||||||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|4/7|c.900G>A||||||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|6/7|c.900G>A||||||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|beta_strand|ENST00000404569|protein_coding|7/7|c.900G>A||||||,A|3_prime_UTR_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|6/6|n.*367G>A|||||1389|,A|3_prime_UTR_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000428069|nonsense_mediated_decay|7/7|n.*367G>A|||||1389|,A|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000434364|protein_coding||c.*744G>A|||||2409|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|6/6|n.*367G>A||||||,A|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000428069|nonsense_mediated_decay|7/7|n.*367G>A|||||| 22 39909847 . G A . . ANN=A|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000402881|protein_coding|6/7|c.911G>A|p.Arg304His|1408/2269|911/1437|304/478||,A|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding|6/6|c.911G>A|p.Arg304His|1335/5625|911/1392|304/463||,A|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000404569|protein_coding|7/7|c.911G>A|p.Arg304His|1461/3797|911/1392|304/463||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|7/7|c.911G>A||||||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|5/7|c.911G>A||||||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|4/7|c.911G>A||||||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|6/7|c.911G>A||||||,A|3_prime_UTR_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|6/6|n.*378G>A|||||1400|,A|3_prime_UTR_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000428069|nonsense_mediated_decay|7/7|n.*378G>A|||||1400|,A|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000434364|protein_coding||c.*744G>A|||||2420|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|6/6|n.*378G>A||||||,A|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000428069|nonsense_mediated_decay|7/7|n.*378G>A|||||| 22 39909907 . T C . . ANN=C|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000402881|protein_coding|6/7|c.971T>C|p.Val324Ala|1468/2269|971/1437|324/478||,C|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding|6/6|c.971T>C|p.Val324Ala|1395/5625|971/1392|324/463||,C|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000404569|protein_coding|7/7|c.971T>C|p.Val324Ala|1521/3797|971/1392|324/463||,C|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|7/7|c.971T>C||||||,C|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|5/7|c.971T>C||||||,C|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|4/7|c.971T>C||||||,C|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|6/7|c.971T>C||||||,C|sequence_feature|LOW|MIEF1|ENSG00000100335|beta_strand|ENST00000404569|protein_coding|7/7|c.971T>C||||||,C|3_prime_UTR_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|6/6|n.*438T>C|||||1460|,C|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000434364|protein_coding||c.*744T>C|||||2480|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000428069|nonsense_mediated_decay||n.*977T>C|||||36|,C|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|6/6|n.*438T>C|||||| 22 39909922 . G A . . ANN=A|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000402881|protein_coding|6/7|c.986G>A|p.Arg329Gln|1483/2269|986/1437|329/478||,A|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding|6/6|c.986G>A|p.Arg329Gln|1410/5625|986/1392|329/463||,A|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000404569|protein_coding|7/7|c.986G>A|p.Arg329Gln|1536/3797|986/1392|329/463||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|7/7|c.986G>A||||||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|5/7|c.986G>A||||||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|4/7|c.986G>A||||||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|6/7|c.986G>A||||||,A|3_prime_UTR_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|6/6|n.*453G>A|||||1475|,A|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000434364|protein_coding||c.*744G>A|||||2495|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000428069|nonsense_mediated_decay||n.*977G>A|||||51|,A|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|6/6|n.*453G>A|||||| 22 39909963 . C T . . ANN=T|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000402881|protein_coding|6/7|c.1027C>T|p.Pro343Ser|1524/2269|1027/1437|343/478||,T|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding|6/6|c.1027C>T|p.Pro343Ser|1451/5625|1027/1392|343/463||,T|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000404569|protein_coding|7/7|c.1027C>T|p.Pro343Ser|1577/3797|1027/1392|343/463||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|7/7|c.1027C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|5/7|c.1027C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|4/7|c.1027C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|6/7|c.1027C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|helix|ENST00000404569|protein_coding|7/7|c.1027C>T||||||,T|3_prime_UTR_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|6/6|n.*494C>T|||||1516|,T|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000434364|protein_coding||c.*744C>T|||||2536|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000428069|nonsense_mediated_decay||n.*977C>T|||||92|,T|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|6/6|n.*494C>T|||||| 22 39909968 . G A . . ANN=A|synonymous_variant|LOW|MIEF1|ENSG00000100335|transcript|ENST00000402881|protein_coding|6/7|c.1032G>A|p.Ala344Ala|1529/2269|1032/1437|344/478||,A|synonymous_variant|LOW|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding|6/6|c.1032G>A|p.Ala344Ala|1456/5625|1032/1392|344/463||,A|synonymous_variant|LOW|MIEF1|ENSG00000100335|transcript|ENST00000404569|protein_coding|7/7|c.1032G>A|p.Ala344Ala|1582/3797|1032/1392|344/463||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|7/7|c.1032G>A||||||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|5/7|c.1032G>A||||||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|4/7|c.1032G>A||||||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|6/7|c.1032G>A||||||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|helix|ENST00000404569|protein_coding|7/7|c.1032G>A||||||,A|3_prime_UTR_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|6/6|n.*499G>A|||||1521|,A|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000434364|protein_coding||c.*744G>A|||||2541|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000428069|nonsense_mediated_decay||n.*977G>A|||||97|,A|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|6/6|n.*499G>A|||||| 22 39910064 . T A . . ANN=A|synonymous_variant|LOW|MIEF1|ENSG00000100335|transcript|ENST00000402881|protein_coding|6/7|c.1128T>A|p.Ala376Ala|1625/2269|1128/1437|376/478||,A|synonymous_variant|LOW|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding|6/6|c.1128T>A|p.Ala376Ala|1552/5625|1128/1392|376/463||,A|synonymous_variant|LOW|MIEF1|ENSG00000100335|transcript|ENST00000404569|protein_coding|7/7|c.1128T>A|p.Ala376Ala|1678/3797|1128/1392|376/463||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|7/7|c.1128T>A||||||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|5/7|c.1128T>A||||||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|4/7|c.1128T>A||||||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|6/7|c.1128T>A||||||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|helix|ENST00000404569|protein_coding|7/7|c.1128T>A||||||,A|3_prime_UTR_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|6/6|n.*595T>A|||||1617|,A|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000434364|protein_coding||c.*744T>A|||||2637|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000428069|nonsense_mediated_decay||n.*977T>A|||||193|,A|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|6/6|n.*595T>A|||||| 22 39910106 . C T . . ANN=T|synonymous_variant|LOW|MIEF1|ENSG00000100335|transcript|ENST00000402881|protein_coding|6/7|c.1170C>T|p.Leu390Leu|1667/2269|1170/1437|390/478||,T|synonymous_variant|LOW|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding|6/6|c.1170C>T|p.Leu390Leu|1594/5625|1170/1392|390/463||,T|synonymous_variant|LOW|MIEF1|ENSG00000100335|transcript|ENST00000404569|protein_coding|7/7|c.1170C>T|p.Leu390Leu|1720/3797|1170/1392|390/463||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|7/7|c.1170C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|5/7|c.1170C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|4/7|c.1170C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|6/7|c.1170C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|helix|ENST00000404569|protein_coding|7/7|c.1170C>T||||||,T|3_prime_UTR_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|6/6|n.*637C>T|||||1659|,T|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000434364|protein_coding||c.*744C>T|||||2679|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000428069|nonsense_mediated_decay||n.*977C>T|||||235|,T|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|6/6|n.*637C>T|||||| 22 39910113 . G C . . ANN=C|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000402881|protein_coding|6/7|c.1177G>C|p.Ala393Pro|1674/2269|1177/1437|393/478||,C|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding|6/6|c.1177G>C|p.Ala393Pro|1601/5625|1177/1392|393/463||,C|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000404569|protein_coding|7/7|c.1177G>C|p.Ala393Pro|1727/3797|1177/1392|393/463||,C|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|7/7|c.1177G>C||||||,C|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|5/7|c.1177G>C||||||,C|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|4/7|c.1177G>C||||||,C|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|6/7|c.1177G>C||||||,C|sequence_feature|LOW|MIEF1|ENSG00000100335|helix|ENST00000404569|protein_coding|7/7|c.1177G>C||||||,C|3_prime_UTR_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|6/6|n.*644G>C|||||1666|,C|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000434364|protein_coding||c.*744G>C|||||2686|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000428069|nonsense_mediated_decay||n.*977G>C|||||242|,C|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|6/6|n.*644G>C|||||| 22 39910228 . A G . . ANN=G|missense_variant&splice_region_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000402881|protein_coding|6/7|c.1292A>G|p.Lys431Arg|1789/2269|1292/1437|431/478||,G|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding|6/6|c.1292A>G|p.Lys431Arg|1716/5625|1292/1392|431/463||,G|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000404569|protein_coding|7/7|c.1292A>G|p.Lys431Arg|1842/3797|1292/1392|431/463||,G|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|7/7|c.1292A>G||||||,G|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|5/7|c.1292A>G||||||,G|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|4/7|c.1292A>G||||||,G|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|6/7|c.1292A>G||||||,G|3_prime_UTR_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|6/6|n.*759A>G|||||1781|,G|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000434364|protein_coding||c.*744A>G|||||2801|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000428069|nonsense_mediated_decay||n.*977A>G|||||357|,G|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|6/6|n.*759A>G|||||| 22 39910268 . C T . . ANN=T|synonymous_variant|LOW|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding|6/6|c.1332C>T|p.Asp444Asp|1756/5625|1332/1392|444/463||,T|synonymous_variant|LOW|MIEF1|ENSG00000100335|transcript|ENST00000404569|protein_coding|7/7|c.1332C>T|p.Asp444Asp|1882/3797|1332/1392|444/463||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|7/7|c.1332C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|5/7|c.1332C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|4/7|c.1332C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|6/7|c.1332C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|helix|ENST00000404569|protein_coding|7/7|c.1332C>T||||||,T|3_prime_UTR_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|6/6|n.*799C>T|||||1821|,T|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000434364|protein_coding||c.*744C>T|||||2841|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000428069|nonsense_mediated_decay||n.*977C>T|||||397|,T|intron_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000402881|protein_coding|6/6|c.1293+39C>T||||||,T|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|6/6|n.*799C>T|||||| 22 39910324 . C T . . ANN=T|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding|6/6|c.1388C>T|p.Thr463Met|1812/5625|1388/1392|463/463||,T|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000404569|protein_coding|7/7|c.1388C>T|p.Thr463Met|1938/3797|1388/1392|463/463||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|7/7|c.1388C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|5/7|c.1388C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|4/7|c.1388C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|6/7|c.1388C>T||||||,T|3_prime_UTR_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|6/6|n.*855C>T|||||1877|,T|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000434364|protein_coding||c.*744C>T|||||2897|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000428069|nonsense_mediated_decay||n.*977C>T|||||453|,T|intron_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000402881|protein_coding|6/6|c.1293+95C>T||||||,T|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|6/6|n.*855C>T|||||| 22 39917515 . A C . . ANN=C|missense_variant|MODERATE|ATF4|ENSG00000128272|transcript|ENST00000337304|protein_coding|1/2|c.65A>C|p.Gln22Pro|947/2019|65/1056|22/351||,C|missense_variant|MODERATE|ATF4|ENSG00000128272|transcript|ENST00000404241|protein_coding|3/4|c.65A>C|p.Gln22Pro|838/1910|65/1056|22/351||,C|missense_variant|MODERATE|ATF4|ENSG00000128272|transcript|ENST00000396680|protein_coding|2/3|c.65A>C|p.Gln22Pro|345/1420|65/1056|22/351||,C|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding||c.*1816A>C|||||3378| 22 39917584 . A T . . ANN=T|missense_variant|MODERATE|ATF4|ENSG00000128272|transcript|ENST00000337304|protein_coding|1/2|c.134A>T|p.Lys45Ile|1016/2019|134/1056|45/351||,T|missense_variant|MODERATE|ATF4|ENSG00000128272|transcript|ENST00000404241|protein_coding|3/4|c.134A>T|p.Lys45Ile|907/1910|134/1056|45/351||,T|missense_variant|MODERATE|ATF4|ENSG00000128272|transcript|ENST00000396680|protein_coding|2/3|c.134A>T|p.Lys45Ile|414/1420|134/1056|45/351||,T|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding||c.*1816A>T|||||3447| 22 39917587 . C T . . ANN=T|missense_variant|MODERATE|ATF4|ENSG00000128272|transcript|ENST00000337304|protein_coding|1/2|c.137C>T|p.Pro46Leu|1019/2019|137/1056|46/351||,T|missense_variant|MODERATE|ATF4|ENSG00000128272|transcript|ENST00000404241|protein_coding|3/4|c.137C>T|p.Pro46Leu|910/1910|137/1056|46/351||,T|missense_variant|MODERATE|ATF4|ENSG00000128272|transcript|ENST00000396680|protein_coding|2/3|c.137C>T|p.Pro46Leu|417/1420|137/1056|46/351||,T|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding||c.*1816C>T|||||3450| 22 39917725 . C T . . ANN=T|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding||c.*1816C>T|||||3588|,T|intron_variant|MODIFIER|ATF4|ENSG00000128272|transcript|ENST00000337304|protein_coding|1/1|c.226+49C>T||||||,T|intron_variant|MODIFIER|ATF4|ENSG00000128272|transcript|ENST00000404241|protein_coding|3/3|c.226+49C>T||||||,T|intron_variant|MODIFIER|ATF4|ENSG00000128272|transcript|ENST00000396680|protein_coding|2/2|c.226+49C>T|||||| 22 39917753 . G T . . ANN=T|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding||c.*1816G>T|||||3616|,T|intron_variant|MODIFIER|ATF4|ENSG00000128272|transcript|ENST00000337304|protein_coding|1/1|c.227-25G>T||||||,T|intron_variant|MODIFIER|ATF4|ENSG00000128272|transcript|ENST00000404241|protein_coding|3/3|c.227-25G>T||||||,T|intron_variant|MODIFIER|ATF4|ENSG00000128272|transcript|ENST00000396680|protein_coding|2/2|c.227-25G>T|||||| 22 39917768 . TG T . . ANN=|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding||c.*1816delG|||||3632|,|intron_variant|MODIFIER|ATF4|ENSG00000128272|transcript|ENST00000337304|protein_coding|1/1|c.227-9delG||||||,|intron_variant|MODIFIER|ATF4|ENSG00000128272|transcript|ENST00000404241|protein_coding|3/3|c.227-9delG||||||,|intron_variant|MODIFIER|ATF4|ENSG00000128272|transcript|ENST00000396680|protein_coding|2/2|c.227-9delG|||||| 22 39917791 . C T . . ANN=T|synonymous_variant|LOW|ATF4|ENSG00000128272|transcript|ENST00000337304|protein_coding|2/2|c.240C>T|p.Ser80Ser|1122/2019|240/1056|80/351||,T|synonymous_variant|LOW|ATF4|ENSG00000128272|transcript|ENST00000404241|protein_coding|4/4|c.240C>T|p.Ser80Ser|1013/1910|240/1056|80/351||,T|synonymous_variant|LOW|ATF4|ENSG00000128272|transcript|ENST00000396680|protein_coding|3/3|c.240C>T|p.Ser80Ser|520/1420|240/1056|80/351||,T|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding||c.*1816C>T|||||3654| 22 39917944 . T C . . ANN=C|synonymous_variant|LOW|ATF4|ENSG00000128272|transcript|ENST00000337304|protein_coding|2/2|c.393T>C|p.Asn131Asn|1275/2019|393/1056|131/351||,C|synonymous_variant|LOW|ATF4|ENSG00000128272|transcript|ENST00000404241|protein_coding|4/4|c.393T>C|p.Asn131Asn|1166/1910|393/1056|131/351||,C|synonymous_variant|LOW|ATF4|ENSG00000128272|transcript|ENST00000396680|protein_coding|3/3|c.393T>C|p.Asn131Asn|673/1420|393/1056|131/351||,C|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding||c.*1816T>C|||||3807| 22 39917952 . C T . . ANN=T|missense_variant|MODERATE|ATF4|ENSG00000128272|transcript|ENST00000337304|protein_coding|2/2|c.401C>T|p.Pro134Leu|1283/2019|401/1056|134/351||,T|missense_variant|MODERATE|ATF4|ENSG00000128272|transcript|ENST00000404241|protein_coding|4/4|c.401C>T|p.Pro134Leu|1174/1910|401/1056|134/351||,T|missense_variant|MODERATE|ATF4|ENSG00000128272|transcript|ENST00000396680|protein_coding|3/3|c.401C>T|p.Pro134Leu|681/1420|401/1056|134/351||,T|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding||c.*1816C>T|||||3815| 22 39917955 . C T . . ANN=T|missense_variant|MODERATE|ATF4|ENSG00000128272|transcript|ENST00000337304|protein_coding|2/2|c.404C>T|p.Pro135Leu|1286/2019|404/1056|135/351||,T|missense_variant|MODERATE|ATF4|ENSG00000128272|transcript|ENST00000404241|protein_coding|4/4|c.404C>T|p.Pro135Leu|1177/1910|404/1056|135/351||,T|missense_variant|MODERATE|ATF4|ENSG00000128272|transcript|ENST00000396680|protein_coding|3/3|c.404C>T|p.Pro135Leu|684/1420|404/1056|135/351||,T|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding||c.*1816C>T|||||3818| 22 39917960 . A T . . ANN=T|missense_variant|MODERATE|ATF4|ENSG00000128272|transcript|ENST00000337304|protein_coding|2/2|c.409A>T|p.Thr137Ser|1291/2019|409/1056|137/351||,T|missense_variant|MODERATE|ATF4|ENSG00000128272|transcript|ENST00000404241|protein_coding|4/4|c.409A>T|p.Thr137Ser|1182/1910|409/1056|137/351||,T|missense_variant|MODERATE|ATF4|ENSG00000128272|transcript|ENST00000396680|protein_coding|3/3|c.409A>T|p.Thr137Ser|689/1420|409/1056|137/351||,T|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding||c.*1816A>T|||||3823| 22 39918036 . C T . . ANN=T|missense_variant|MODERATE|ATF4|ENSG00000128272|transcript|ENST00000337304|protein_coding|2/2|c.485C>T|p.Pro162Leu|1367/2019|485/1056|162/351||,T|missense_variant|MODERATE|ATF4|ENSG00000128272|transcript|ENST00000404241|protein_coding|4/4|c.485C>T|p.Pro162Leu|1258/1910|485/1056|162/351||,T|missense_variant|MODERATE|ATF4|ENSG00000128272|transcript|ENST00000396680|protein_coding|3/3|c.485C>T|p.Pro162Leu|765/1420|485/1056|162/351||,T|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding||c.*1816C>T|||||3899| 22 39918057 . T A . . ANN=A|missense_variant|MODERATE|ATF4|ENSG00000128272|transcript|ENST00000337304|protein_coding|2/2|c.506T>A|p.Val169Asp|1388/2019|506/1056|169/351||,A|missense_variant|MODERATE|ATF4|ENSG00000128272|transcript|ENST00000404241|protein_coding|4/4|c.506T>A|p.Val169Asp|1279/1910|506/1056|169/351||,A|missense_variant|MODERATE|ATF4|ENSG00000128272|transcript|ENST00000396680|protein_coding|3/3|c.506T>A|p.Val169Asp|786/1420|506/1056|169/351||,A|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding||c.*1816T>A|||||3920| 22 39918323 . C G . . ANN=G|missense_variant|MODERATE|ATF4|ENSG00000128272|transcript|ENST00000337304|protein_coding|2/2|c.772C>G|p.Pro258Ala|1654/2019|772/1056|258/351||,G|missense_variant|MODERATE|ATF4|ENSG00000128272|transcript|ENST00000404241|protein_coding|4/4|c.772C>G|p.Pro258Ala|1545/1910|772/1056|258/351||,G|missense_variant|MODERATE|ATF4|ENSG00000128272|transcript|ENST00000396680|protein_coding|3/3|c.772C>G|p.Pro258Ala|1052/1420|772/1056|258/351||,G|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding||c.*1816C>G|||||4186| 22 39918625 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|ATF4|ENSG00000128272|transcript|ENST00000337304|protein_coding|2/2|c.*18C>T|||||18|,T|3_prime_UTR_variant|MODIFIER|ATF4|ENSG00000128272|transcript|ENST00000404241|protein_coding|4/4|c.*18C>T|||||18|,T|3_prime_UTR_variant|MODIFIER|ATF4|ENSG00000128272|transcript|ENST00000396680|protein_coding|3/3|c.*18C>T|||||18|,T|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding||c.*1816C>T|||||4488| 22 39918642 . A G . . ANN=G|3_prime_UTR_variant|MODIFIER|ATF4|ENSG00000128272|transcript|ENST00000337304|protein_coding|2/2|c.*35A>G|||||35|,G|3_prime_UTR_variant|MODIFIER|ATF4|ENSG00000128272|transcript|ENST00000404241|protein_coding|4/4|c.*35A>G|||||35|,G|3_prime_UTR_variant|MODIFIER|ATF4|ENSG00000128272|transcript|ENST00000396680|protein_coding|3/3|c.*35A>G|||||35|,G|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding||c.*1816A>G|||||4505| 22 39925564 . T G . . ANN=G|missense_variant|MODERATE|RPS19BP1|ENSG00000187051|transcript|ENST00000334678|protein_coding|4/4|c.344A>C|p.Lys115Thr|461/927|344/411|115/136||,G|3_prime_UTR_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000420879|nonsense_mediated_decay|5/5|n.*225A>C|||||967|,G|downstream_gene_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000472291|retained_intron||n.*869A>C|||||2170|,G|non_coding_exon_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000488602|retained_intron|2/2|n.2339A>C||||||,G|non_coding_exon_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000420879|nonsense_mediated_decay|5/5|n.*225A>C||||||,G|non_coding_exon_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000459956|retained_intron|3/3|n.507A>C||||||,G|non_coding_exon_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000491966|retained_intron|3/3|n.534A>C|||||| 22 39925565 . T C . . ANN=C|missense_variant|MODERATE|RPS19BP1|ENSG00000187051|transcript|ENST00000334678|protein_coding|4/4|c.343A>G|p.Lys115Glu|460/927|343/411|115/136||,C|3_prime_UTR_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000420879|nonsense_mediated_decay|5/5|n.*224A>G|||||966|,C|downstream_gene_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000472291|retained_intron||n.*869A>G|||||2169|,C|non_coding_exon_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000488602|retained_intron|2/2|n.2338A>G||||||,C|non_coding_exon_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000420879|nonsense_mediated_decay|5/5|n.*224A>G||||||,C|non_coding_exon_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000459956|retained_intron|3/3|n.506A>G||||||,C|non_coding_exon_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000491966|retained_intron|3/3|n.533A>G|||||| 22 39925642 . G C . . ANN=C|downstream_gene_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000472291|retained_intron||n.*869C>G|||||2092|,C|intron_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000334678|protein_coding|3/3|c.280-14C>G||||||,C|intron_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000488602|retained_intron|1/1|n.2275-14C>G||||||,C|intron_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000420879|nonsense_mediated_decay|4/4|n.*161-14C>G||||||,C|intron_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000459956|retained_intron|2/2|n.443-14C>G||||||,C|non_coding_exon_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000491966|retained_intron|3/3|n.456C>G|||||| 22 39925797 . G A . . ANN=A|downstream_gene_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000472291|retained_intron||n.*869C>T|||||1937|,A|intron_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000334678|protein_coding|3/3|c.279+28C>T||||||,A|intron_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000488602|retained_intron|1/1|n.2274+28C>T||||||,A|intron_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000420879|nonsense_mediated_decay|4/4|n.*160+28C>T||||||,A|intron_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000459956|retained_intron|2/2|n.442+28C>T||||||,A|non_coding_exon_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000491966|retained_intron|3/3|n.301C>T|||||| 22 39925806 . T C . . ANN=C|downstream_gene_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000472291|retained_intron||n.*869A>G|||||1928|,C|intron_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000334678|protein_coding|3/3|c.279+19A>G||||||,C|intron_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000488602|retained_intron|1/1|n.2274+19A>G||||||,C|intron_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000420879|nonsense_mediated_decay|4/4|n.*160+19A>G||||||,C|intron_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000459956|retained_intron|2/2|n.442+19A>G||||||,C|non_coding_exon_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000491966|retained_intron|3/3|n.292A>G|||||| 22 39925840 . C T . . ANN=T|synonymous_variant|LOW|RPS19BP1|ENSG00000187051|transcript|ENST00000334678|protein_coding|3/4|c.264G>A|p.Glu88Glu|381/927|264/411|88/136||,T|3_prime_UTR_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000420879|nonsense_mediated_decay|4/5|n.*145G>A|||||691|,T|downstream_gene_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000472291|retained_intron||n.*869G>A|||||1894|,T|non_coding_exon_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000488602|retained_intron|1/2|n.2259G>A||||||,T|non_coding_exon_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000420879|nonsense_mediated_decay|4/5|n.*145G>A||||||,T|non_coding_exon_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000459956|retained_intron|2/3|n.427G>A||||||,T|non_coding_exon_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000491966|retained_intron|3/3|n.258G>A|||||| 22 39925898 . C T . . ANN=T|missense_variant|MODERATE|RPS19BP1|ENSG00000187051|transcript|ENST00000334678|protein_coding|3/4|c.206G>A|p.Arg69Gln|323/927|206/411|69/136||,T|3_prime_UTR_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000420879|nonsense_mediated_decay|4/5|n.*87G>A|||||633|,T|downstream_gene_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000472291|retained_intron||n.*869G>A|||||1836|,T|non_coding_exon_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000488602|retained_intron|1/2|n.2201G>A||||||,T|non_coding_exon_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000420879|nonsense_mediated_decay|4/5|n.*87G>A||||||,T|non_coding_exon_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000459956|retained_intron|2/3|n.369G>A||||||,T|non_coding_exon_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000491966|retained_intron|3/3|n.200G>A|||||| 22 39925958 . C T . . ANN=T|downstream_gene_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000472291|retained_intron||n.*869G>A|||||1776|,T|intron_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000334678|protein_coding|2/3|c.182-36G>A||||||,T|intron_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000420879|nonsense_mediated_decay|3/4|n.*63-36G>A||||||,T|intron_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000459956|retained_intron|1/2|n.345-36G>A||||||,T|intron_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000491966|retained_intron|2/2|n.176-36G>A||||||,T|non_coding_exon_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000488602|retained_intron|1/2|n.2141G>A|||||| 22 39925960 . C T . . ANN=T|downstream_gene_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000472291|retained_intron||n.*869G>A|||||1774|,T|intron_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000334678|protein_coding|2/3|c.182-38G>A||||||,T|intron_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000420879|nonsense_mediated_decay|3/4|n.*63-38G>A||||||,T|intron_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000459956|retained_intron|1/2|n.345-38G>A||||||,T|intron_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000491966|retained_intron|2/2|n.176-38G>A||||||,T|non_coding_exon_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000488602|retained_intron|1/2|n.2139G>A|||||| 22 39928516 . G A . . ANN=A|missense_variant|MODERATE|RPS19BP1|ENSG00000187051|transcript|ENST00000334678|protein_coding|2/4|c.65C>T|p.Pro22Leu|182/927|65/411|22/136||,A|upstream_gene_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000488602|retained_intron||n.-1C>T|||||418|,A|non_coding_exon_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000420879|nonsense_mediated_decay|2/5|n.65C>T||||||,A|non_coding_exon_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000459956|retained_intron|1/3|n.228C>T||||||,A|non_coding_exon_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000491966|retained_intron|2/3|n.59C>T||||||,A|non_coding_exon_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000472291|retained_intron|2/2|n.87C>T|||||| 22 39928517 . G A . . ANN=A|missense_variant|MODERATE|RPS19BP1|ENSG00000187051|transcript|ENST00000334678|protein_coding|2/4|c.64C>T|p.Pro22Ser|181/927|64/411|22/136||,A|upstream_gene_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000488602|retained_intron||n.-1C>T|||||419|,A|non_coding_exon_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000420879|nonsense_mediated_decay|2/5|n.64C>T||||||,A|non_coding_exon_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000459956|retained_intron|1/3|n.227C>T||||||,A|non_coding_exon_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000491966|retained_intron|2/3|n.58C>T||||||,A|non_coding_exon_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000472291|retained_intron|2/2|n.86C>T|||||| 22 39928547 . G A . . ANN=A|TF_binding_site_variant|LOW|||Gabp|MA0062.1|||||||||,A|upstream_gene_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000488602|retained_intron||n.-1C>T|||||449|,A|intron_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000334678|protein_coding|1/3|c.53-19C>T||||||,A|intron_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000420879|nonsense_mediated_decay|1/4|n.53-19C>T||||||,A|intron_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000491966|retained_intron|1/2|n.47-19C>T||||||,A|intron_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000472291|retained_intron|1/1|n.75-19C>T||||||,A|non_coding_exon_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000459956|retained_intron|1/3|n.197C>T|||||| 22 39928558 . G A . . ANN=A|upstream_gene_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000488602|retained_intron||n.-1C>T|||||460|,A|intron_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000334678|protein_coding|1/3|c.53-30C>T||||||,A|intron_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000420879|nonsense_mediated_decay|1/4|n.53-30C>T||||||,A|intron_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000491966|retained_intron|1/2|n.47-30C>T||||||,A|intron_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000472291|retained_intron|1/1|n.75-30C>T||||||,A|non_coding_exon_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000459956|retained_intron|1/3|n.186C>T|||||| 22 39928569 . G A . . ANN=A|upstream_gene_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000488602|retained_intron||n.-1C>T|||||471|,A|intron_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000334678|protein_coding|1/3|c.53-41C>T||||||,A|intron_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000420879|nonsense_mediated_decay|1/4|n.53-41C>T||||||,A|intron_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000491966|retained_intron|1/2|n.47-41C>T||||||,A|intron_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000472291|retained_intron|1/1|n.75-41C>T||||||,A|non_coding_exon_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000459956|retained_intron|1/3|n.175C>T|||||| 22 39928738 . G A . . ANN=A|synonymous_variant|LOW|RPS19BP1|ENSG00000187051|transcript|ENST00000334678|protein_coding|1/4|c.6C>T|p.Ser2Ser|123/927|6/411|2/136||,A|upstream_gene_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000488602|retained_intron||n.-1C>T|||||640|,A|upstream_gene_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000491966|retained_intron||n.-1C>T|||||1|,A|non_coding_exon_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000420879|nonsense_mediated_decay|1/5|n.6C>T||||||,A|non_coding_exon_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000459956|retained_intron|1/3|n.6C>T||||||,A|non_coding_exon_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000472291|retained_intron|1/2|n.28C>T|||||| 22 39966777 . C T . . ANN=T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|1/40|c.20C>T|p.Pro7Leu|20/10015|20/6690|7/2229||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|1/35|c.20C>T|p.Pro7Leu|20/5952|20/5946|7/1981||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|1/36|c.20C>T|p.Pro7Leu|20/6740|20/6051|7/2016||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|1/39|c.20C>T|p.Pro7Leu|20/9892|20/6567|7/2188||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|1/36|c.20C>T|p.Pro7Leu|20/9892|20/6567|7/2188||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|1/37|c.20C>T|p.Pro7Leu|20/10004|20/6672|7/2223||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|1/35|c.20C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|1/36|c.20C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|1/36|c.20C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|1/37|c.20C>T|||||| 22 39966856 . C T . . ANN=T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|1/40|c.99C>T|p.Ser33Ser|99/10015|99/6690|33/2229||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|1/35|c.99C>T|p.Ser33Ser|99/5952|99/5946|33/1981||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|1/36|c.99C>T|p.Ser33Ser|99/6740|99/6051|33/2016||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|1/39|c.99C>T|p.Ser33Ser|99/9892|99/6567|33/2188||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|1/36|c.99C>T|p.Ser33Ser|99/9892|99/6567|33/2188||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|1/37|c.99C>T|p.Ser33Ser|99/10004|99/6672|33/2223||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|1/35|c.99C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|1/36|c.99C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|1/36|c.99C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|1/37|c.99C>T|||||| 22 39994293 . C CGCCCT . . ANN=GCCCT|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|1/35|c.348+26_348+27insGCCCT||||||,GCCCT|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|2/35|c.348+26_348+27insGCCCT||||||,GCCCT|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|3/35|c.348+26_348+27insGCCCT||||||,GCCCT|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|5/35|c.348+26_348+27insGCCCT||||||,GCCCT|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|7/35|c.348+26_348+27insGCCCT||||||,GCCCT|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|4/35|c.348+26_348+27insGCCCT||||||,GCCCT|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|6/35|c.348+26_348+27insGCCCT||||||,GCCCT|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|8/35|c.348+26_348+27insGCCCT||||||,GCCCT|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000407673|protein_coding|2/35|c.348+26_348+27insGCCCT||||||,GCCCT|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000407673|protein_coding|3/35|c.348+26_348+27insGCCCT||||||,GCCCT|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|1/36|c.348+26_348+27insGCCCT||||||,GCCCT|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|2/36|c.348+26_348+27insGCCCT||||||,GCCCT|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|3/36|c.348+26_348+27insGCCCT||||||,GCCCT|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|5/36|c.348+26_348+27insGCCCT||||||,GCCCT|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|7/36|c.348+26_348+27insGCCCT||||||,GCCCT|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|4/36|c.348+26_348+27insGCCCT||||||,GCCCT|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|6/36|c.348+26_348+27insGCCCT||||||,GCCCT|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|8/36|c.348+26_348+27insGCCCT||||||,GCCCT|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000401624|protein_coding|2/36|c.348+26_348+27insGCCCT||||||,GCCCT|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000401624|protein_coding|3/36|c.348+26_348+27insGCCCT||||||,GCCCT|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|1/36|c.348+26_348+27insGCCCT||||||,GCCCT|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|2/36|c.348+26_348+27insGCCCT||||||,GCCCT|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|3/36|c.348+26_348+27insGCCCT||||||,GCCCT|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|5/36|c.348+26_348+27insGCCCT||||||,GCCCT|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|7/36|c.348+26_348+27insGCCCT||||||,GCCCT|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|4/36|c.348+26_348+27insGCCCT||||||,GCCCT|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|6/36|c.348+26_348+27insGCCCT||||||,GCCCT|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|8/36|c.348+26_348+27insGCCCT||||||,GCCCT|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000404898|protein_coding|2/36|c.348+26_348+27insGCCCT||||||,GCCCT|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000404898|protein_coding|3/36|c.348+26_348+27insGCCCT||||||,GCCCT|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|1/37|c.348+26_348+27insGCCCT||||||,GCCCT|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|2/37|c.348+26_348+27insGCCCT||||||,GCCCT|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|3/37|c.348+26_348+27insGCCCT||||||,GCCCT|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|5/37|c.348+26_348+27insGCCCT||||||,GCCCT|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|7/37|c.348+26_348+27insGCCCT||||||,GCCCT|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|4/37|c.348+26_348+27insGCCCT||||||,GCCCT|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|6/37|c.348+26_348+27insGCCCT||||||,GCCCT|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|8/37|c.348+26_348+27insGCCCT||||||,GCCCT|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000402142|protein_coding|2/37|c.348+26_348+27insGCCCT||||||,GCCCT|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000402142|protein_coding|3/37|c.348+26_348+27insGCCCT||||||,GCCCT|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|4/39|c.348+32_348+36dupGCCCT||||||INFO_REALIGN_3_PRIME,GCCCT|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|2/34|c.348+32_348+36dupGCCCT||||||INFO_REALIGN_3_PRIME,GCCCT|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|2/35|c.348+32_348+36dupGCCCT||||||INFO_REALIGN_3_PRIME,GCCCT|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|4/38|c.348+32_348+36dupGCCCT||||||INFO_REALIGN_3_PRIME,GCCCT|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|2/35|c.348+32_348+36dupGCCCT||||||INFO_REALIGN_3_PRIME,GCCCT|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|2/36|c.348+32_348+36dupGCCCT||||||INFO_REALIGN_3_PRIME 22 39996692 . T C . . ANN=C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|1/35|c.482+34T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|2/35|c.482+34T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|3/35|c.482+34T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|5/35|c.482+34T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|7/35|c.482+34T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|4/35|c.482+34T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|6/35|c.482+34T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|8/35|c.482+34T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000407673|protein_coding|3/35|c.482+34T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000407673|protein_coding|4/35|c.482+34T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|1/36|c.482+34T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|2/36|c.482+34T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|3/36|c.482+34T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|5/36|c.482+34T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|7/36|c.482+34T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|4/36|c.482+34T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|6/36|c.482+34T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|8/36|c.482+34T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000401624|protein_coding|3/36|c.482+34T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000401624|protein_coding|4/36|c.482+34T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|1/36|c.482+34T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|2/36|c.482+34T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|3/36|c.482+34T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|5/36|c.482+34T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|7/36|c.482+34T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|4/36|c.482+34T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|6/36|c.482+34T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|8/36|c.482+34T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000404898|protein_coding|3/36|c.482+34T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000404898|protein_coding|4/36|c.482+34T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|1/37|c.482+34T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|2/37|c.482+34T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|3/37|c.482+34T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|5/37|c.482+34T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|7/37|c.482+34T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|4/37|c.482+34T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|6/37|c.482+34T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|8/37|c.482+34T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000402142|protein_coding|3/37|c.482+34T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000402142|protein_coding|4/37|c.482+34T>C||||||,C|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|5/39|c.482+34T>C||||||,C|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|3/34|c.482+34T>C||||||,C|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|3/35|c.482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22 40015321 . C T . . 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142|protein_coding|6/37|c.489C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|8/37|c.489C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000402142|protein_coding|3/37|c.489C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000402142|protein_coding|4/37|c.489C>T|||||| 22 40030520 . T C . . 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22 40030565 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|6/39|c.581-5C>T||||||,T|splice_region_variant&intron_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|4/34|c.581-5C>T||||||,T|splice_region_variant&intron_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|4/35|c.581-5C>T||||||,T|splice_region_variant&intron_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|6/38|c.581-5C>T||||||,T|splice_region_variant&intron_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|4/35|c.581-5C>T||||||,T|splice_region_variant&intron_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|4/36|c.581-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|1/35|c.581-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|2/35|c.581-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|3/35|c.581-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|5/35|c.581-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|7/35|c.581-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|4/35|c.581-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|6/35|c.581-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|8/35|c.581-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|5/35|c.581-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|4/35|c.581-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|1/36|c.581-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|2/36|c.581-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|3/36|c.581-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|5/36|c.581-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|7/36|c.581-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|4/36|c.581-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|6/36|c.581-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|8/36|c.581-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|5/36|c.581-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|4/36|c.581-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|1/36|c.581-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|2/36|c.581-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|3/36|c.581-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|5/36|c.581-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|7/36|c.581-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|4/36|c.581-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|6/36|c.581-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|8/36|c.581-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|5/36|c.581-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|4/36|c.581-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|1/37|c.581-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|2/37|c.581-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|3/37|c.581-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|5/37|c.581-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|7/37|c.581-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|4/37|c.581-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|6/37|c.581-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|8/37|c.581-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|5/37|c.581-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|4/37|c.581-5C>T|||||| 22 40030685 . G A . . ANN=A|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|7/40|c.696G>A|p.Ala232Ala|696/10015|696/6690|232/2229||,A|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|5/35|c.696G>A|p.Ala232Ala|696/5952|696/5946|232/1981||,A|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|5/36|c.696G>A|p.Ala232Ala|696/6740|696/6051|232/2016||,A|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|7/39|c.696G>A|p.Ala232Ala|696/9892|696/6567|232/2188||,A|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|5/36|c.696G>A|p.Ala232Ala|696/9892|696/6567|232/2188||,A|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|5/37|c.696G>A|p.Ala232Ala|696/10004|696/6672|232/2223||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|1/35|c.696G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|2/35|c.696G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|3/35|c.696G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|5/35|c.696G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|7/35|c.696G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|4/35|c.696G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|6/35|c.696G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|8/35|c.696G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000407673|protein_coding|5/35|c.696G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|1/36|c.696G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|2/36|c.696G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|3/36|c.696G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|5/36|c.696G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|7/36|c.696G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|4/36|c.696G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|6/36|c.696G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|8/36|c.696G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000401624|protein_coding|5/36|c.696G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|1/36|c.696G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|2/36|c.696G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|3/36|c.696G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|5/36|c.696G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|7/36|c.696G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|4/36|c.696G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|6/36|c.696G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|8/36|c.696G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000404898|protein_coding|5/36|c.696G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|1/37|c.696G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|2/37|c.696G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|3/37|c.696G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|5/37|c.696G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|7/37|c.696G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|4/37|c.696G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|6/37|c.696G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|8/37|c.696G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000402142|protein_coding|5/37|c.696G>A|||||| 22 40030766 . A G . . ANN=G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|1/35|c.740+37A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|2/35|c.740+37A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|3/35|c.740+37A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|5/35|c.740+37A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|7/35|c.740+37A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|4/35|c.740+37A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|6/35|c.740+37A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|8/35|c.740+37A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000407673|protein_coding|5/35|c.740+37A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000407673|protein_coding|7/35|c.740+37A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000407673|protein_coding|6/35|c.740+37A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|1/36|c.740+37A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|2/36|c.740+37A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|3/36|c.740+37A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|5/36|c.740+37A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|7/36|c.740+37A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|4/36|c.740+37A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|6/36|c.740+37A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|8/36|c.740+37A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000401624|protein_coding|5/36|c.740+37A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000401624|protein_coding|7/36|c.740+37A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000401624|protein_coding|6/36|c.740+37A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|1/36|c.740+37A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|2/36|c.740+37A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|3/36|c.740+37A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|5/36|c.740+37A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|7/36|c.740+37A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|4/36|c.740+37A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|6/36|c.740+37A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|8/36|c.740+37A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000404898|protein_coding|5/36|c.740+37A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000404898|protein_coding|7/36|c.740+37A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000404898|protein_coding|6/36|c.740+37A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|1/37|c.740+37A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|2/37|c.740+37A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|3/37|c.740+37A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|5/37|c.740+37A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|7/37|c.740+37A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|4/37|c.740+37A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|6/37|c.740+37A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|8/37|c.740+37A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000402142|protein_coding|5/37|c.740+37A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000402142|protein_coding|7/37|c.740+37A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000402142|protein_coding|6/37|c.740+37A>G||||||,G|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|7/39|c.740+37A>G||||||,G|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|5/34|c.740+37A>G||||||,G|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|5/35|c.740+37A>G||||||,G|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|7/38|c.740+37A>G||||||,G|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|5/35|c.740+37A>G||||||,G|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|5/36|c.740+37A>G|||||| 22 40036825 . G A . . 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sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000402142|protein_coding|6/37|c.741-47G>A||||||,A|upstream_gene_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000471970|processed_transcript||n.-1G>A|||||1977|,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|7/39|c.741-47G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|5/34|c.741-47G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|5/35|c.741-47G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|7/38|c.741-47G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|5/35|c.741-47G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|5/36|c.741-47G>A|||||| 22 40036908 . G A . . ANN=A|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|8/40|c.777G>A|p.Pro259Pro|777/10015|777/6690|259/2229||,A|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|6/35|c.777G>A|p.Pro259Pro|777/5952|777/5946|259/1981||,A|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|6/36|c.777G>A|p.Pro259Pro|777/6740|777/6051|259/2016||,A|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|8/39|c.777G>A|p.Pro259Pro|777/9892|777/6567|259/2188||,A|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|6/36|c.777G>A|p.Pro259Pro|777/9892|777/6567|259/2188||,A|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|6/37|c.777G>A|p.Pro259Pro|777/10004|777/6672|259/2223||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|1/35|c.777G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|2/35|c.777G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|3/35|c.777G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|5/35|c.777G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|7/35|c.777G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|4/35|c.777G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|6/35|c.777G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|8/35|c.777G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000407673|protein_coding|5/35|c.777G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000407673|protein_coding|7/35|c.777G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000407673|protein_coding|6/35|c.777G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|1/36|c.777G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|2/36|c.777G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|3/36|c.777G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|5/36|c.777G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|7/36|c.777G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|4/36|c.777G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|6/36|c.777G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|8/36|c.777G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000401624|protein_coding|5/36|c.777G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000401624|protein_coding|7/36|c.777G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000401624|protein_coding|6/36|c.777G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|1/36|c.777G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|2/36|c.777G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|3/36|c.777G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|5/36|c.777G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|7/36|c.777G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|4/36|c.777G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|6/36|c.777G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|8/36|c.777G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000404898|protein_coding|5/36|c.777G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000404898|protein_coding|7/36|c.777G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000404898|protein_coding|6/36|c.777G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|1/37|c.777G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|2/37|c.777G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|3/37|c.777G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|5/37|c.777G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|7/37|c.777G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|4/37|c.777G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|6/37|c.777G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|8/37|c.777G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000402142|protein_coding|5/37|c.777G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000402142|protein_coding|7/37|c.777G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000402142|protein_coding|6/37|c.777G>A||||||,A|upstream_gene_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000471970|processed_transcript||n.-1G>A|||||1894| 22 40036950 . C T . . 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eat:I|ENST00000402142|protein_coding|5/37|c.819C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|7/37|c.819C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|4/37|c.819C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|6/37|c.819C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|8/37|c.819C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000402142|protein_coding|5/37|c.819C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000402142|protein_coding|7/37|c.819C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000402142|protein_coding|6/37|c.819C>T||||||,T|upstream_gene_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000471970|processed_transcript||n.-1C>T|||||1852| 22 40036959 . G A . . 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eat:I|ENST00000402142|protein_coding|5/37|c.828G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|7/37|c.828G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|4/37|c.828G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|6/37|c.828G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|8/37|c.828G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000402142|protein_coding|5/37|c.828G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000402142|protein_coding|7/37|c.828G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000402142|protein_coding|6/37|c.828G>A||||||,A|upstream_gene_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000471970|processed_transcript||n.-1G>A|||||1843| 22 40037036 . A G . . ANN=G|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|8/40|c.905A>G|p.Asp302Gly|905/10015|905/6690|302/2229||,G|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|6/35|c.905A>G|p.Asp302Gly|905/5952|905/5946|302/1981||,G|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|6/36|c.905A>G|p.Asp302Gly|905/6740|905/6051|302/2016||,G|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|8/39|c.905A>G|p.Asp302Gly|905/9892|905/6567|302/2188||,G|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|6/36|c.905A>G|p.Asp302Gly|905/9892|905/6567|302/2188||,G|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|6/37|c.905A>G|p.Asp302Gly|905/10004|905/6672|302/2223||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|1/35|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|2/35|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|3/35|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|5/35|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|7/35|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|4/35|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|6/35|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|8/35|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000407673|protein_coding|5/35|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000407673|protein_coding|7/35|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000407673|protein_coding|6/35|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|1/36|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|2/36|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|3/36|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|5/36|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|7/36|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|4/36|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|6/36|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|8/36|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000401624|protein_coding|5/36|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000401624|protein_coding|7/36|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000401624|protein_coding|6/36|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|1/36|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|2/36|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|3/36|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|5/36|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|7/36|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|4/36|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|6/36|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|8/36|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000404898|protein_coding|5/36|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000404898|protein_coding|7/36|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000404898|protein_coding|6/36|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|1/37|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|2/37|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|3/37|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|5/37|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|7/37|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|4/37|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|6/37|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|8/37|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000402142|protein_coding|5/37|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000402142|protein_coding|7/37|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000402142|protein_coding|6/37|c.905A>G||||||,G|upstream_gene_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000471970|processed_transcript||n.-1A>G|||||1766| 22 40037051 . G A . . 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NSG00000100346|repeat:I|ENST00000402142|protein_coding|5/37|c.920G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|7/37|c.920G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|4/37|c.920G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|6/37|c.920G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|8/37|c.920G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000402142|protein_coding|5/37|c.920G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000402142|protein_coding|7/37|c.920G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000402142|protein_coding|6/37|c.920G>A||||||,A|upstream_gene_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000471970|processed_transcript||n.-1G>A|||||1751| 22 40037222 . T C . . 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22 40042711 . C T . . ANN=T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|10/40|c.1287C>T|p.Ala429Ala|1287/10015|1287/6690|429/2229||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|8/35|c.1287C>T|p.Ala429Ala|1287/5952|1287/5946|429/1981||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|8/36|c.1287C>T|p.Ala429Ala|1287/6740|1287/6051|429/2016||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|10/39|c.1287C>T|p.Ala429Ala|1287/9892|1287/6567|429/2188||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|8/36|c.1287C>T|p.Ala429Ala|1287/9892|1287/6567|429/2188||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|8/37|c.1287C>T|p.Ala429Ala|1287/10004|1287/6672|429/2223||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|10/36|c.1287C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|9/36|c.1287C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|8/36|c.1287C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|10/37|c.1287C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|9/37|c.1287C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|8/37|c.1287C>T||||||,T|downstream_gene_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000471970|processed_transcript||n.*168C>T|||||3194| 22 40042714 . G A . . ANN=A|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|10/40|c.1290G>A|p.Glu430Glu|1290/10015|1290/6690|430/2229||,A|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|8/35|c.1290G>A|p.Glu430Glu|1290/5952|1290/5946|430/1981||,A|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|8/36|c.1290G>A|p.Glu430Glu|1290/6740|1290/6051|430/2016||,A|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|10/39|c.1290G>A|p.Glu430Glu|1290/9892|1290/6567|430/2188||,A|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|8/36|c.1290G>A|p.Glu430Glu|1290/9892|1290/6567|430/2188||,A|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|8/37|c.1290G>A|p.Glu430Glu|1290/10004|1290/6672|430/2223||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|10/36|c.1290G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|9/36|c.1290G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|8/36|c.1290G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|10/37|c.1290G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|9/37|c.1290G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|8/37|c.1290G>A||||||,A|downstream_gene_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000471970|processed_transcript||n.*168G>A|||||3197| 22 40042720 . C T . . ANN=T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|10/40|c.1296C>T|p.Gly432Gly|1296/10015|1296/6690|432/2229||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|8/35|c.1296C>T|p.Gly432Gly|1296/5952|1296/5946|432/1981||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|8/36|c.1296C>T|p.Gly432Gly|1296/6740|1296/6051|432/2016||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|10/39|c.1296C>T|p.Gly432Gly|1296/9892|1296/6567|432/2188||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|8/36|c.1296C>T|p.Gly432Gly|1296/9892|1296/6567|432/2188||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|8/37|c.1296C>T|p.Gly432Gly|1296/10004|1296/6672|432/2223||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|10/36|c.1296C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|9/36|c.1296C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|8/36|c.1296C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|10/37|c.1296C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|9/37|c.1296C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|8/37|c.1296C>T||||||,T|downstream_gene_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000471970|processed_transcript||n.*168C>T|||||3203| 22 40042840 . G T . . ANN=T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|10/40|c.1416G>T|p.Pro472Pro|1416/10015|1416/6690|472/2229||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|8/35|c.1416G>T|p.Pro472Pro|1416/5952|1416/5946|472/1981||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|8/36|c.1416G>T|p.Pro472Pro|1416/6740|1416/6051|472/2016||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|10/39|c.1416G>T|p.Pro472Pro|1416/9892|1416/6567|472/2188||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|8/36|c.1416G>T|p.Pro472Pro|1416/9892|1416/6567|472/2188||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|8/37|c.1416G>T|p.Pro472Pro|1416/10004|1416/6672|472/2223||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|10/36|c.1416G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|9/36|c.1416G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|8/36|c.1416G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|10/37|c.1416G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|9/37|c.1416G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|8/37|c.1416G>T||||||,T|downstream_gene_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000471970|processed_transcript||n.*168G>T|||||3323| 22 40043812 . A G . . ANN=G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|10/36|c.1463-15A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|9/36|c.1463-15A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|8/36|c.1463-15A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|10/37|c.1463-15A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|9/37|c.1463-15A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|8/37|c.1463-15A>G||||||,G|downstream_gene_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000471970|processed_transcript||n.*168A>G|||||4295|,G|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|10/39|c.1463-15A>G||||||,G|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|8/34|c.1462+926A>G||||||,G|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|8/35|c.1463-15A>G||||||,G|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|10/38|c.1462+926A>G||||||,G|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|8/35|c.1462+926A>G||||||,G|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|8/36|c.1463-15A>G|||||| 22 40043867 . C T . . ANN=T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|11/40|c.1503C>T|p.Leu501Leu|1503/10015|1503/6690|501/2229||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|9/36|c.1503C>T|p.Leu501Leu|1503/6740|1503/6051|501/2016||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|9/37|c.1503C>T|p.Leu501Leu|1503/10004|1503/6672|501/2223||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|10/36|c.1503C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|9/36|c.1503C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|8/36|c.1503C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|10/37|c.1503C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|9/37|c.1503C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|8/37|c.1503C>T||||||,T|downstream_gene_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000471970|processed_transcript||n.*168C>T|||||4350|,T|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|8/34|c.1462+981C>T||||||,T|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|10/38|c.1462+981C>T||||||,T|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|8/35|c.1462+981C>T|||||| 22 40043877 . C A . . ANN=A|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|11/40|c.1513C>A|p.His505Asn|1513/10015|1513/6690|505/2229||,A|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|9/36|c.1513C>A|p.His505Asn|1513/6740|1513/6051|505/2016||,A|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|9/37|c.1513C>A|p.His505Asn|1513/10004|1513/6672|505/2223||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|10/36|c.1513C>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|9/36|c.1513C>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|8/36|c.1513C>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|10/37|c.1513C>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|9/37|c.1513C>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|8/37|c.1513C>A||||||,A|downstream_gene_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000471970|processed_transcript||n.*168C>A|||||4360|,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|8/34|c.1462+991C>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|10/38|c.1462+991C>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|8/35|c.1462+991C>A|||||| 22 40043909 . T C . . ANN=C|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|11/40|c.1545T>C|p.Pro515Pro|1545/10015|1545/6690|515/2229||,C|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|9/36|c.1545T>C|p.Pro515Pro|1545/6740|1545/6051|515/2016||,C|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|9/37|c.1545T>C|p.Pro515Pro|1545/10004|1545/6672|515/2223||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|10/36|c.1545T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|9/36|c.1545T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|8/36|c.1545T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|10/37|c.1545T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|9/37|c.1545T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|8/37|c.1545T>C||||||,C|downstream_gene_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000471970|processed_transcript||n.*168T>C|||||4392|,C|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|8/34|c.1462+1023T>C||||||,C|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|10/38|c.1462+1023T>C||||||,C|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|8/35|c.1462+1023T>C|||||| 22 40045537 . G A . . ANN=A|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|12/40|c.1617G>A|p.Ala539Ala|1617/10015|1617/6690|539/2229||,A|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|9/35|c.1494G>A|p.Ala498Ala|1494/5952|1494/5946|498/1981||,A|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|10/36|c.1599G>A|p.Ala533Ala|1599/6740|1599/6051|533/2016||,A|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|11/39|c.1494G>A|p.Ala498Ala|1494/9892|1494/6567|498/2188||,A|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|9/36|c.1494G>A|p.Ala498Ala|1494/9892|1494/6567|498/2188||,A|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|10/37|c.1599G>A|p.Ala533Ala|1599/10004|1599/6672|533/2223||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|10/36|c.1599G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|9/36|c.1599G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|8/36|c.1599G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|10/37|c.1599G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|9/37|c.1599G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|8/37|c.1599G>A|||||| 22 40045588 . C T . . ANN=T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|12/40|c.1668C>T|p.Pro556Pro|1668/10015|1668/6690|556/2229||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|9/35|c.1545C>T|p.Pro515Pro|1545/5952|1545/5946|515/1981||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|10/36|c.1650C>T|p.Pro550Pro|1650/6740|1650/6051|550/2016||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|11/39|c.1545C>T|p.Pro515Pro|1545/9892|1545/6567|515/2188||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|9/36|c.1545C>T|p.Pro515Pro|1545/9892|1545/6567|515/2188||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|10/37|c.1650C>T|p.Pro550Pro|1650/10004|1650/6672|550/2223||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|10/36|c.1650C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|9/36|c.1650C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|8/36|c.1650C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|10/37|c.1650C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|9/37|c.1650C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|8/37|c.1650C>T|||||| 22 40045654 . G A . . ANN=A|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|12/40|c.1734G>A|p.Ser578Ser|1734/10015|1734/6690|578/2229||,A|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|9/35|c.1611G>A|p.Ser537Ser|1611/5952|1611/5946|537/1981||,A|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|10/36|c.1716G>A|p.Ser572Ser|1716/6740|1716/6051|572/2016||,A|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|11/39|c.1611G>A|p.Ser537Ser|1611/9892|1611/6567|537/2188||,A|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|9/36|c.1611G>A|p.Ser537Ser|1611/9892|1611/6567|537/2188||,A|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|10/37|c.1716G>A|p.Ser572Ser|1716/10004|1716/6672|572/2223||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|10/36|c.1716G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|9/36|c.1716G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|8/36|c.1716G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|10/37|c.1716G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|9/37|c.1716G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|8/37|c.1716G>A|||||| 22 40045685 . G A . . ANN=A|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|12/40|c.1765G>A|p.Ala589Thr|1765/10015|1765/6690|589/2229||,A|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|9/35|c.1642G>A|p.Ala548Thr|1642/5952|1642/5946|548/1981||,A|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|10/36|c.1747G>A|p.Ala583Thr|1747/6740|1747/6051|583/2016||,A|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|11/39|c.1642G>A|p.Ala548Thr|1642/9892|1642/6567|548/2188||,A|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|9/36|c.1642G>A|p.Ala548Thr|1642/9892|1642/6567|548/2188||,A|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|10/37|c.1747G>A|p.Ala583Thr|1747/10004|1747/6672|583/2223||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|10/36|c.1747G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|9/36|c.1747G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|8/36|c.1747G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|10/37|c.1747G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|9/37|c.1747G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|8/37|c.1747G>A|||||| 22 40045718 . G T . . ANN=T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|12/40|c.1798G>T|p.Ala600Ser|1798/10015|1798/6690|600/2229||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|9/35|c.1675G>T|p.Ala559Ser|1675/5952|1675/5946|559/1981||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|10/36|c.1780G>T|p.Ala594Ser|1780/6740|1780/6051|594/2016||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|11/39|c.1675G>T|p.Ala559Ser|1675/9892|1675/6567|559/2188||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|9/36|c.1675G>T|p.Ala559Ser|1675/9892|1675/6567|559/2188||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|10/37|c.1780G>T|p.Ala594Ser|1780/10004|1780/6672|594/2223||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|10/36|c.1780G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|9/36|c.1780G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|8/36|c.1780G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|10/37|c.1780G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|9/37|c.1780G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|8/37|c.1780G>T|||||| 22 40045841 . G C . . ANN=C|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|12/40|c.1921G>C|p.Gly641Arg|1921/10015|1921/6690|641/2229||,C|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|9/35|c.1798G>C|p.Gly600Arg|1798/5952|1798/5946|600/1981||,C|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|10/36|c.1903G>C|p.Gly635Arg|1903/6740|1903/6051|635/2016||,C|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|11/39|c.1798G>C|p.Gly600Arg|1798/9892|1798/6567|600/2188||,C|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|9/36|c.1798G>C|p.Gly600Arg|1798/9892|1798/6567|600/2188||,C|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|10/37|c.1903G>C|p.Gly635Arg|1903/10004|1903/6672|635/2223||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|9/35|c.1798G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|12/35|c.1798G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|13/35|c.1798G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|11/35|c.1798G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|10/35|c.1798G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|10/36|c.1903G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|9/36|c.1903G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|8/36|c.1903G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|10/36|c.1903G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|13/36|c.1903G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|14/36|c.1903G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|12/36|c.1903G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|11/36|c.1903G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|9/36|c.1798G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|12/36|c.1798G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|13/36|c.1798G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|11/36|c.1798G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|10/36|c.1798G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|10/37|c.1903G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|9/37|c.1903G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|8/37|c.1903G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|10/37|c.1903G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|13/37|c.1903G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|14/37|c.1903G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|12/37|c.1903G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|11/37|c.1903G>C|||||| 22 40045915 . C T . . ANN=T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|12/40|c.1995C>T|p.Ile665Ile|1995/10015|1995/6690|665/2229||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|9/35|c.1872C>T|p.Ile624Ile|1872/5952|1872/5946|624/1981||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|10/36|c.1977C>T|p.Ile659Ile|1977/6740|1977/6051|659/2016||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|11/39|c.1872C>T|p.Ile624Ile|1872/9892|1872/6567|624/2188||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|9/36|c.1872C>T|p.Ile624Ile|1872/9892|1872/6567|624/2188||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|10/37|c.1977C>T|p.Ile659Ile|1977/10004|1977/6672|659/2223||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|9/35|c.1872C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|12/35|c.1872C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|13/35|c.1872C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|11/35|c.1872C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|10/35|c.1872C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000407673|protein_coding|9/35|c.1872C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|10/36|c.1977C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|13/36|c.1977C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|14/36|c.1977C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|12/36|c.1977C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|11/36|c.1977C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000401624|protein_coding|10/36|c.1977C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|9/36|c.1872C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|12/36|c.1872C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|13/36|c.1872C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|11/36|c.1872C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|10/36|c.1872C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000404898|protein_coding|9/36|c.1872C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|10/37|c.1977C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|13/37|c.1977C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|14/37|c.1977C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|12/37|c.1977C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|11/37|c.1977C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000402142|protein_coding|10/37|c.1977C>T|||||| 22 40045924 . C T . . ANN=T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|12/40|c.2004C>T|p.His668His|2004/10015|2004/6690|668/2229||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|9/35|c.1881C>T|p.His627His|1881/5952|1881/5946|627/1981||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|10/36|c.1986C>T|p.His662His|1986/6740|1986/6051|662/2016||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|11/39|c.1881C>T|p.His627His|1881/9892|1881/6567|627/2188||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|9/36|c.1881C>T|p.His627His|1881/9892|1881/6567|627/2188||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|10/37|c.1986C>T|p.His662His|1986/10004|1986/6672|662/2223||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|9/35|c.1881C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|12/35|c.1881C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|13/35|c.1881C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|11/35|c.1881C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|10/35|c.1881C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000407673|protein_coding|9/35|c.1881C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000407673|protein_coding|10/35|c.1881C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|10/36|c.1986C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|13/36|c.1986C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|14/36|c.1986C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|12/36|c.1986C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|11/36|c.1986C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000401624|protein_coding|10/36|c.1986C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000401624|protein_coding|11/36|c.1986C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|9/36|c.1881C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|12/36|c.1881C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|13/36|c.1881C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|11/36|c.1881C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|10/36|c.1881C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000404898|protein_coding|9/36|c.1881C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000404898|protein_coding|10/36|c.1881C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|10/37|c.1986C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|13/37|c.1986C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|14/37|c.1986C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|12/37|c.1986C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|11/37|c.1986C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000402142|protein_coding|10/37|c.1986C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000402142|protein_coding|11/37|c.1986C>T|||||| 22 40054285 . C T . . ANN=T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|14/40|c.2139C>T|p.Phe713Phe|2139/10015|2139/6690|713/2229||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|10/35|c.2016C>T|p.Phe672Phe|2016/5952|2016/5946|672/1981||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|11/36|c.2121C>T|p.Phe707Phe|2121/6740|2121/6051|707/2016||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|13/39|c.2016C>T|p.Phe672Phe|2016/9892|2016/6567|672/2188||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|10/36|c.2016C>T|p.Phe672Phe|2016/9892|2016/6567|672/2188||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|11/37|c.2121C>T|p.Phe707Phe|2121/10004|2121/6672|707/2223||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|9/35|c.2016C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|12/35|c.2016C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|13/35|c.2016C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|11/35|c.2016C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|10/35|c.2016C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000407673|protein_coding|11/35|c.2016C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000407673|protein_coding|10/35|c.2016C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|10/36|c.2121C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|13/36|c.2121C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|14/36|c.2121C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|12/36|c.2121C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|11/36|c.2121C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000401624|protein_coding|12/36|c.2121C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000401624|protein_coding|11/36|c.2121C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|9/36|c.2016C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|12/36|c.2016C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|13/36|c.2016C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|11/36|c.2016C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|10/36|c.2016C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000404898|protein_coding|11/36|c.2016C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000404898|protein_coding|10/36|c.2016C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|10/37|c.2121C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|13/37|c.2121C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|14/37|c.2121C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|12/37|c.2121C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|11/37|c.2121C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000402142|protein_coding|12/37|c.2121C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000402142|protein_coding|11/37|c.2121C>T|||||| 22 40054335 . G A . . ANN=A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|9/35|c.2039+27G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|12/35|c.2039+27G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|13/35|c.2039+27G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|11/35|c.2039+27G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|10/35|c.2039+27G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000407673|protein_coding|11/35|c.2039+27G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000407673|protein_coding|10/35|c.2039+27G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|10/36|c.2144+27G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|13/36|c.2144+27G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|14/36|c.2144+27G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|12/36|c.2144+27G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|11/36|c.2144+27G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000401624|protein_coding|12/36|c.2144+27G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000401624|protein_coding|11/36|c.2144+27G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|9/36|c.2039+27G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|12/36|c.2039+27G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|13/36|c.2039+27G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|11/36|c.2039+27G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|10/36|c.2039+27G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000404898|protein_coding|11/36|c.2039+27G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000404898|protein_coding|10/36|c.2039+27G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|10/37|c.2144+27G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|13/37|c.2144+27G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|14/37|c.2144+27G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|12/37|c.2144+27G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|11/37|c.2144+27G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000402142|protein_coding|12/37|c.2144+27G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000402142|protein_coding|11/37|c.2144+27G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|14/39|c.2162+27G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|10/34|c.2039+27G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|11/35|c.2144+27G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|13/38|c.2039+27G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|10/35|c.2039+27G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|11/36|c.2144+27G>A|||||| 22 40054347 . G A . . ANN=A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|9/35|c.2039+39G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|12/35|c.2039+39G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|13/35|c.2039+39G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|11/35|c.2039+39G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|10/35|c.2039+39G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000407673|protein_coding|11/35|c.2039+39G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000407673|protein_coding|10/35|c.2039+39G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|10/36|c.2144+39G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|13/36|c.2144+39G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|14/36|c.2144+39G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|12/36|c.2144+39G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|11/36|c.2144+39G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000401624|protein_coding|12/36|c.2144+39G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000401624|protein_coding|11/36|c.2144+39G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|9/36|c.2039+39G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|12/36|c.2039+39G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|13/36|c.2039+39G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|11/36|c.2039+39G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|10/36|c.2039+39G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000404898|protein_coding|11/36|c.2039+39G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000404898|protein_coding|10/36|c.2039+39G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|10/37|c.2144+39G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|13/37|c.2144+39G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|14/37|c.2144+39G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|12/37|c.2144+39G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|11/37|c.2144+39G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000402142|protein_coding|12/37|c.2144+39G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000402142|protein_coding|11/37|c.2144+39G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|14/39|c.2162+39G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|10/34|c.2039+39G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|11/35|c.2144+39G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|13/38|c.2039+39G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|10/35|c.2039+39G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|11/36|c.2144+39G>A|||||| 22 40054907 . T A . . ANN=A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|9/35|c.2040-29T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|12/35|c.2040-29T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|13/35|c.2040-29T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|11/35|c.2040-29T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|10/35|c.2040-29T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000407673|protein_coding|11/35|c.2040-29T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000407673|protein_coding|10/35|c.2040-29T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|10/36|c.2145-29T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|13/36|c.2145-29T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|14/36|c.2145-29T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|12/36|c.2145-29T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|11/36|c.2145-29T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000401624|protein_coding|12/36|c.2145-29T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000401624|protein_coding|11/36|c.2145-29T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|9/36|c.2040-29T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|12/36|c.2040-29T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|13/36|c.2040-29T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|11/36|c.2040-29T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|10/36|c.2040-29T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000404898|protein_coding|11/36|c.2040-29T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000404898|protein_coding|10/36|c.2040-29T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|10/37|c.2145-29T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|13/37|c.2145-29T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|14/37|c.2145-29T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|12/37|c.2145-29T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|11/37|c.2145-29T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000402142|protein_coding|12/37|c.2145-29T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000402142|protein_coding|11/37|c.2145-29T>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|14/39|c.2163-29T>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|10/34|c.2040-29T>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|11/35|c.2145-29T>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|13/38|c.2040-29T>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|10/35|c.2040-29T>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|11/36|c.2145-29T>A|||||| 22 40054925 . C T . . ANN=T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|9/35|c.2040-11C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|12/35|c.2040-11C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|13/35|c.2040-11C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|11/35|c.2040-11C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|10/35|c.2040-11C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000407673|protein_coding|11/35|c.2040-11C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000407673|protein_coding|10/35|c.2040-11C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|10/36|c.2145-11C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|13/36|c.2145-11C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|14/36|c.2145-11C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|12/36|c.2145-11C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|11/36|c.2145-11C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000401624|protein_coding|12/36|c.2145-11C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000401624|protein_coding|11/36|c.2145-11C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|9/36|c.2040-11C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|12/36|c.2040-11C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|13/36|c.2040-11C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|11/36|c.2040-11C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|10/36|c.2040-11C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000404898|protein_coding|11/36|c.2040-11C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000404898|protein_coding|10/36|c.2040-11C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|10/37|c.2145-11C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|13/37|c.2145-11C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|14/37|c.2145-11C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|12/37|c.2145-11C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|11/37|c.2145-11C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000402142|protein_coding|12/37|c.2145-11C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000402142|protein_coding|11/37|c.2145-11C>T||||||,T|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|14/39|c.2163-11C>T||||||,T|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|10/34|c.2040-11C>T||||||,T|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|11/35|c.2145-11C>T||||||,T|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|13/38|c.2040-11C>T||||||,T|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|10/35|c.2040-11C>T||||||,T|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|11/36|c.2145-11C>T|||||| 22 40054948 . T C . . ANN=C|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|15/40|c.2175T>C|p.Ile725Ile|2175/10015|2175/6690|725/2229||,C|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|11/35|c.2052T>C|p.Ile684Ile|2052/5952|2052/5946|684/1981||,C|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|12/36|c.2157T>C|p.Ile719Ile|2157/6740|2157/6051|719/2016||,C|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|14/39|c.2052T>C|p.Ile684Ile|2052/9892|2052/6567|684/2188||,C|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|11/36|c.2052T>C|p.Ile684Ile|2052/9892|2052/6567|684/2188||,C|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|12/37|c.2157T>C|p.Ile719Ile|2157/10004|2157/6672|719/2223||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|9/35|c.2052T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|12/35|c.2052T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|13/35|c.2052T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|11/35|c.2052T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|10/35|c.2052T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000407673|protein_coding|11/35|c.2052T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000407673|protein_coding|10/35|c.2052T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|10/36|c.2157T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|13/36|c.2157T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|14/36|c.2157T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|12/36|c.2157T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|11/36|c.2157T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000401624|protein_coding|12/36|c.2157T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000401624|protein_coding|11/36|c.2157T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|9/36|c.2052T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|12/36|c.2052T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|13/36|c.2052T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|11/36|c.2052T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|10/36|c.2052T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000404898|protein_coding|11/36|c.2052T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000404898|protein_coding|10/36|c.2052T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|10/37|c.2157T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|13/37|c.2157T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|14/37|c.2157T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|12/37|c.2157T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|11/37|c.2157T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000402142|protein_coding|12/37|c.2157T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000402142|protein_coding|11/37|c.2157T>C|||||| 22 40055136 . C G . . ANN=G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|9/35|c.2225+15C>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|12/35|c.2225+15C>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|13/35|c.2225+15C>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|11/35|c.2225+15C>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|10/35|c.2225+15C>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000407673|protein_coding|12/35|c.2225+15C>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000407673|protein_coding|11/35|c.2225+15C>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|10/36|c.2330+15C>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|13/36|c.2330+15C>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|14/36|c.2330+15C>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|12/36|c.2330+15C>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|11/36|c.2330+15C>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000401624|protein_coding|13/36|c.2330+15C>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000401624|protein_coding|12/36|c.2330+15C>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|9/36|c.2225+15C>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|12/36|c.2225+15C>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|13/36|c.2225+15C>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|11/36|c.2225+15C>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|10/36|c.2225+15C>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000404898|protein_coding|12/36|c.2225+15C>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000404898|protein_coding|11/36|c.2225+15C>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|10/37|c.2330+15C>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|13/37|c.2330+15C>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|14/37|c.2330+15C>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|12/37|c.2330+15C>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|11/37|c.2330+15C>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000402142|protein_coding|13/37|c.2330+15C>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000402142|protein_coding|12/37|c.2330+15C>G||||||,G|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|15/39|c.2348+15C>G||||||,G|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|11/34|c.2225+15C>G||||||,G|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|12/35|c.2330+15C>G||||||,G|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|14/38|c.2225+15C>G||||||,G|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|11/35|c.2225+15C>G||||||,G|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|12/36|c.2330+15C>G|||||| 22 40055489 . T C . . ANN=C|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|16/40|c.2400T>C|p.Thr800Thr|2400/10015|2400/6690|800/2229||,C|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|12/35|c.2277T>C|p.Thr759Thr|2277/5952|2277/5946|759/1981||,C|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|13/36|c.2382T>C|p.Thr794Thr|2382/6740|2382/6051|794/2016||,C|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|15/39|c.2277T>C|p.Thr759Thr|2277/9892|2277/6567|759/2188||,C|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|12/36|c.2277T>C|p.Thr759Thr|2277/9892|2277/6567|759/2188||,C|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|13/37|c.2382T>C|p.Thr794Thr|2382/10004|2382/6672|794/2223||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|9/35|c.2277T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|12/35|c.2277T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|13/35|c.2277T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|11/35|c.2277T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|10/35|c.2277T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000407673|protein_coding|12/35|c.2277T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000407673|protein_coding|13/35|c.2277T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|10/36|c.2382T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|13/36|c.2382T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|14/36|c.2382T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|12/36|c.2382T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|11/36|c.2382T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000401624|protein_coding|13/36|c.2382T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000401624|protein_coding|14/36|c.2382T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|9/36|c.2277T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|12/36|c.2277T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|13/36|c.2277T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|11/36|c.2277T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|10/36|c.2277T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000404898|protein_coding|12/36|c.2277T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000404898|protein_coding|13/36|c.2277T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|10/37|c.2382T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|13/37|c.2382T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|14/37|c.2382T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|12/37|c.2382T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|11/37|c.2382T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000402142|protein_coding|13/37|c.2382T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000402142|protein_coding|14/37|c.2382T>C|||||| 22 40055498 . G A . . ANN=A|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|16/40|c.2409G>A|p.Thr803Thr|2409/10015|2409/6690|803/2229||,A|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|12/35|c.2286G>A|p.Thr762Thr|2286/5952|2286/5946|762/1981||,A|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|13/36|c.2391G>A|p.Thr797Thr|2391/6740|2391/6051|797/2016||,A|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|15/39|c.2286G>A|p.Thr762Thr|2286/9892|2286/6567|762/2188||,A|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|12/36|c.2286G>A|p.Thr762Thr|2286/9892|2286/6567|762/2188||,A|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|13/37|c.2391G>A|p.Thr797Thr|2391/10004|2391/6672|797/2223||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|9/35|c.2286G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|12/35|c.2286G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|13/35|c.2286G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|11/35|c.2286G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|10/35|c.2286G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000407673|protein_coding|12/35|c.2286G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000407673|protein_coding|13/35|c.2286G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|10/36|c.2391G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|13/36|c.2391G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|14/36|c.2391G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|12/36|c.2391G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|11/36|c.2391G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000401624|protein_coding|13/36|c.2391G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000401624|protein_coding|14/36|c.2391G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|9/36|c.2286G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|12/36|c.2286G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|13/36|c.2286G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|11/36|c.2286G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|10/36|c.2286G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000404898|protein_coding|12/36|c.2286G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000404898|protein_coding|13/36|c.2286G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|10/37|c.2391G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|13/37|c.2391G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|14/37|c.2391G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|12/37|c.2391G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|11/37|c.2391G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000402142|protein_coding|13/37|c.2391G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000402142|protein_coding|14/37|c.2391G>A|||||| 22 40055540 . C T . . ANN=T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|16/40|c.2451C>T|p.Ile817Ile|2451/10015|2451/6690|817/2229||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|12/35|c.2328C>T|p.Ile776Ile|2328/5952|2328/5946|776/1981||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|13/36|c.2433C>T|p.Ile811Ile|2433/6740|2433/6051|811/2016||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|15/39|c.2328C>T|p.Ile776Ile|2328/9892|2328/6567|776/2188||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|12/36|c.2328C>T|p.Ile776Ile|2328/9892|2328/6567|776/2188||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|13/37|c.2433C>T|p.Ile811Ile|2433/10004|2433/6672|811/2223||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|9/35|c.2328C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|12/35|c.2328C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|13/35|c.2328C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|11/35|c.2328C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|10/35|c.2328C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000407673|protein_coding|12/35|c.2328C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000407673|protein_coding|13/35|c.2328C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|10/36|c.2433C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|13/36|c.2433C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|14/36|c.2433C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|12/36|c.2433C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|11/36|c.2433C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000401624|protein_coding|13/36|c.2433C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000401624|protein_coding|14/36|c.2433C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|9/36|c.2328C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|12/36|c.2328C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|13/36|c.2328C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|11/36|c.2328C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|10/36|c.2328C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000404898|protein_coding|12/36|c.2328C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000404898|protein_coding|13/36|c.2328C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|10/37|c.2433C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|13/37|c.2433C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|14/37|c.2433C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|12/37|c.2433C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|11/37|c.2433C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000402142|protein_coding|13/37|c.2433C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000402142|protein_coding|14/37|c.2433C>T|||||| 22 40055566 . G A . . ANN=A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|9/35|c.2343+11G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|12/35|c.2343+11G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|13/35|c.2343+11G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|11/35|c.2343+11G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|10/35|c.2343+11G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000407673|protein_coding|12/35|c.2343+11G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000407673|protein_coding|13/35|c.2343+11G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|10/36|c.2448+11G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|13/36|c.2448+11G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|14/36|c.2448+11G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|12/36|c.2448+11G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|11/36|c.2448+11G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000401624|protein_coding|13/36|c.2448+11G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000401624|protein_coding|14/36|c.2448+11G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|9/36|c.2343+11G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|12/36|c.2343+11G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|13/36|c.2343+11G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|11/36|c.2343+11G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|10/36|c.2343+11G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000404898|protein_coding|12/36|c.2343+11G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000404898|protein_coding|13/36|c.2343+11G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|10/37|c.2448+11G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|13/37|c.2448+11G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|14/37|c.2448+11G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|12/37|c.2448+11G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|11/37|c.2448+11G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000402142|protein_coding|13/37|c.2448+11G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000402142|protein_coding|14/37|c.2448+11G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|16/39|c.2466+11G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|12/34|c.2343+11G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|13/35|c.2448+11G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|15/38|c.2343+11G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|12/35|c.2343+11G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|13/36|c.2448+11G>A|||||| 22 40055667 . G A . . ANN=A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|9/35|c.2344-35G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|12/35|c.2344-35G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|13/35|c.2344-35G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|11/35|c.2344-35G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|10/35|c.2344-35G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000407673|protein_coding|12/35|c.2344-35G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000407673|protein_coding|13/35|c.2344-35G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|10/36|c.2449-35G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|13/36|c.2449-35G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|14/36|c.2449-35G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|12/36|c.2449-35G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|11/36|c.2449-35G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000401624|protein_coding|13/36|c.2449-35G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000401624|protein_coding|14/36|c.2449-35G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|9/36|c.2344-35G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|12/36|c.2344-35G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|13/36|c.2344-35G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|11/36|c.2344-35G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|10/36|c.2344-35G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000404898|protein_coding|12/36|c.2344-35G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000404898|protein_coding|13/36|c.2344-35G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|10/37|c.2449-35G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|13/37|c.2449-35G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|14/37|c.2449-35G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|12/37|c.2449-35G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|11/37|c.2449-35G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000402142|protein_coding|13/37|c.2449-35G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000402142|protein_coding|14/37|c.2449-35G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|16/39|c.2467-35G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|12/34|c.2344-35G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|13/35|c.2449-35G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|15/38|c.2344-35G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|12/35|c.2344-35G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|13/36|c.2449-35G>A|||||| 22 40055782 . C T . . ANN=T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|17/40|c.2547C>T|p.Val849Val|2547/10015|2547/6690|849/2229||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|13/35|c.2424C>T|p.Val808Val|2424/5952|2424/5946|808/1981||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|14/36|c.2529C>T|p.Val843Val|2529/6740|2529/6051|843/2016||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|16/39|c.2424C>T|p.Val808Val|2424/9892|2424/6567|808/2188||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|13/36|c.2424C>T|p.Val808Val|2424/9892|2424/6567|808/2188||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|14/37|c.2529C>T|p.Val843Val|2529/10004|2529/6672|843/2223||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|9/35|c.2424C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|12/35|c.2424C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|13/35|c.2424C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|11/35|c.2424C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|10/35|c.2424C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000407673|protein_coding|13/35|c.2424C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|10/36|c.2529C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|13/36|c.2529C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|14/36|c.2529C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|12/36|c.2529C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|11/36|c.2529C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000401624|protein_coding|14/36|c.2529C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|9/36|c.2424C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|12/36|c.2424C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|13/36|c.2424C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|11/36|c.2424C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|10/36|c.2424C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000404898|protein_coding|13/36|c.2424C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|10/37|c.2529C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|13/37|c.2529C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|14/37|c.2529C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|12/37|c.2529C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|11/37|c.2529C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000402142|protein_coding|14/37|c.2529C>T|||||| 22 40055896 . T C . . ANN=C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|14/35|c.2499+39T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|17/35|c.2499+39T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|13/35|c.2499+39T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|16/35|c.2499+39T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|15/35|c.2499+39T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|18/35|c.2499+39T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|15/36|c.2604+39T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|18/36|c.2604+39T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|14/36|c.2604+39T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|17/36|c.2604+39T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|16/36|c.2604+39T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|19/36|c.2604+39T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|14/36|c.2499+39T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|17/36|c.2499+39T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|13/36|c.2499+39T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|16/36|c.2499+39T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|15/36|c.2499+39T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|18/36|c.2499+39T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|15/37|c.2604+39T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|18/37|c.2604+39T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|14/37|c.2604+39T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|17/37|c.2604+39T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|16/37|c.2604+39T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|19/37|c.2604+39T>C||||||,C|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|17/39|c.2622+39T>C||||||,C|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|13/34|c.2499+39T>C||||||,C|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|14/35|c.2604+39T>C||||||,C|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|16/38|c.2499+39T>C||||||,C|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|13/35|c.2499+39T>C||||||,C|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|14/36|c.2604+39T>C|||||| 22 40055900 . C T . . 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G A . . ANN=A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|14/35|c.2500-19G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|17/35|c.2500-19G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|13/35|c.2500-19G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|16/35|c.2500-19G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|15/35|c.2500-19G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|18/35|c.2500-19G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|15/36|c.2605-19G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|18/36|c.2605-19G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|14/36|c.2605-19G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|17/36|c.2605-19G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|16/36|c.2605-19G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|19/36|c.2605-19G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|14/36|c.2500-19G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|17/36|c.2500-19G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|13/36|c.2500-19G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|16/36|c.2500-19G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|15/36|c.2500-19G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|18/36|c.2500-19G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|15/37|c.2605-19G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|18/37|c.2605-19G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|14/37|c.2605-19G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|17/37|c.2605-19G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|16/37|c.2605-19G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|19/37|c.2605-19G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|17/39|c.2623-19G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|13/34|c.2500-19G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|14/35|c.2605-19G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|16/38|c.2500-19G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|13/35|c.2500-19G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|14/36|c.2605-19G>A|||||| 22 40056354 . C T . . ANN=T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|18/40|c.2628C>T|p.Asp876Asp|2628/10015|2628/6690|876/2229||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|14/35|c.2505C>T|p.Asp835Asp|2505/5952|2505/5946|835/1981||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|15/36|c.2610C>T|p.Asp870Asp|2610/6740|2610/6051|870/2016||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|17/39|c.2505C>T|p.Asp835Asp|2505/9892|2505/6567|835/2188||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|14/36|c.2505C>T|p.Asp835Asp|2505/9892|2505/6567|835/2188||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|15/37|c.2610C>T|p.Asp870Asp|2610/10004|2610/6672|870/2223||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|14/35|c.2505C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|17/35|c.2505C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|13/35|c.2505C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|16/35|c.2505C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|15/35|c.2505C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|18/35|c.2505C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|15/36|c.2610C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|18/36|c.2610C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|14/36|c.2610C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|17/36|c.2610C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|16/36|c.2610C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|19/36|c.2610C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|14/36|c.2505C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|17/36|c.2505C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|13/36|c.2505C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|16/36|c.2505C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|15/36|c.2505C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|18/36|c.2505C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|15/37|c.2610C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|18/37|c.2610C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|14/37|c.2610C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|17/37|c.2610C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|16/37|c.2610C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|19/37|c.2610C>T|||||| 22 40056387 . C T . . 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C T . . ANN=T|splice_region_variant&intron_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|18/39|c.2716+6C>T||||||,T|splice_region_variant&intron_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|14/34|c.2593+6C>T||||||,T|splice_region_variant&intron_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|15/35|c.2698+6C>T||||||,T|splice_region_variant&intron_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|17/38|c.2593+6C>T||||||,T|splice_region_variant&intron_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|14/35|c.2593+6C>T||||||,T|splice_region_variant&intron_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|15/36|c.2698+6C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|14/35|c.2593+6C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|17/35|c.2593+6C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|13/35|c.2593+6C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|16/35|c.2593+6C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|15/35|c.2593+6C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|18/35|c.2593+6C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|15/36|c.2698+6C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|18/36|c.2698+6C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|14/36|c.2698+6C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|17/36|c.2698+6C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|16/36|c.2698+6C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|19/36|c.2698+6C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|14/36|c.2593+6C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|17/36|c.2593+6C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|13/36|c.2593+6C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|16/36|c.2593+6C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|15/36|c.2593+6C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|18/36|c.2593+6C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|15/37|c.2698+6C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|18/37|c.2698+6C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|14/37|c.2698+6C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|17/37|c.2698+6C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|16/37|c.2698+6C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|19/37|c.2698+6C>T|||||| 22 40056454 . C T . . ANN=T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|14/35|c.2593+12C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|17/35|c.2593+12C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|13/35|c.2593+12C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|16/35|c.2593+12C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|15/35|c.2593+12C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|18/35|c.2593+12C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|15/36|c.2698+12C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|18/36|c.2698+12C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|14/36|c.2698+12C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|17/36|c.2698+12C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|16/36|c.2698+12C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|19/36|c.2698+12C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|14/36|c.2593+12C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|17/36|c.2593+12C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|13/36|c.2593+12C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|16/36|c.2593+12C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|15/36|c.2593+12C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|18/36|c.2593+12C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|15/37|c.2698+12C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|18/37|c.2698+12C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|14/37|c.2698+12C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|17/37|c.2698+12C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|16/37|c.2698+12C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|19/37|c.2698+12C>T||||||,T|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|18/39|c.2716+12C>T||||||,T|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|14/34|c.2593+12C>T||||||,T|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|15/35|c.2698+12C>T||||||,T|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|17/38|c.2593+12C>T||||||,T|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|14/35|c.2593+12C>T||||||,T|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|15/36|c.2698+12C>T|||||| 22 40056457 . G A . . 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C T . . ANN=T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|19/40|c.2731C>T|p.Pro911Ser|2731/10015|2731/6690|911/2229||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|15/35|c.2608C>T|p.Pro870Ser|2608/5952|2608/5946|870/1981||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|16/36|c.2713C>T|p.Pro905Ser|2713/6740|2713/6051|905/2016||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|18/39|c.2608C>T|p.Pro870Ser|2608/9892|2608/6567|870/2188||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|15/36|c.2608C>T|p.Pro870Ser|2608/9892|2608/6567|870/2188||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|16/37|c.2713C>T|p.Pro905Ser|2713/10004|2713/6672|905/2223||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|14/35|c.2608C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|17/35|c.2608C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|13/35|c.2608C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|16/35|c.2608C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|15/35|c.2608C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|18/35|c.2608C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|15/36|c.2713C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|18/36|c.2713C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|14/36|c.2713C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|17/36|c.2713C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|16/36|c.2713C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|19/36|c.2713C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|14/36|c.2608C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|17/36|c.2608C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|13/36|c.2608C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|16/36|c.2608C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|15/36|c.2608C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|18/36|c.2608C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|15/37|c.2713C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|18/37|c.2713C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|14/37|c.2713C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|17/37|c.2713C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|16/37|c.2713C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|19/37|c.2713C>T|||||| 22 40057273 . T C . . ANN=C|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|19/40|c.2877T>C|p.Ser959Ser|2877/10015|2877/6690|959/2229||,C|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|15/35|c.2754T>C|p.Ser918Ser|2754/5952|2754/5946|918/1981||,C|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|16/36|c.2859T>C|p.Ser953Ser|2859/6740|2859/6051|953/2016||,C|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|18/39|c.2754T>C|p.Ser918Ser|2754/9892|2754/6567|918/2188||,C|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|15/36|c.2754T>C|p.Ser918Ser|2754/9892|2754/6567|918/2188||,C|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|16/37|c.2859T>C|p.Ser953Ser|2859/10004|2859/6672|953/2223||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|14/35|c.2754T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|17/35|c.2754T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|13/35|c.2754T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|16/35|c.2754T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|15/35|c.2754T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|18/35|c.2754T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|15/36|c.2859T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|18/36|c.2859T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|14/36|c.2859T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|17/36|c.2859T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|16/36|c.2859T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|19/36|c.2859T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|14/36|c.2754T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|17/36|c.2754T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|13/36|c.2754T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|16/36|c.2754T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|15/36|c.2754T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|18/36|c.2754T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|15/37|c.2859T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|18/37|c.2859T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|14/37|c.2859T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|17/37|c.2859T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|16/37|c.2859T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|19/37|c.2859T>C|||||| 22 40057288 . G A . . 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A G . . 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C T . . 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22 40059707 . C T . . 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22 40060724 . C A . . 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07673|protein_coding|19/34|c.3562-20C>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|20/35|c.3667-20C>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|22/38|c.3562-20C>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|19/35|c.3562-20C>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|20/36|c.3667-20C>A|||||| 22 40060767 . C T . . ANN=T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|24/40|c.3708C>T|p.Phe1236Phe|3708/10015|3708/6690|1236/2229||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|20/35|c.3585C>T|p.Phe1195Phe|3585/5952|3585/5946|1195/1981||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|21/36|c.3690C>T|p.Phe1230Phe|3690/6740|3690/6051|1230/2016||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|23/39|c.3585C>T|p.Phe1195Phe|3585/9892|3585/6567|1195/2188||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|20/36|c.3585C>T|p.Phe1195Phe|3585/9892|3585/6567|1195/2188||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|21/37|c.3690C>T|p.Phe1230Phe|3690/10004|3690/6672|1230/2223||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000407673|protein_coding|22/35|c.3585C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000407673|protein_coding|19/35|c.3585C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000407673|protein_coding|24/35|c.3585C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000407673|protein_coding|23/35|c.3585C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000407673|protein_coding|17/35|c.3585C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000407673|protein_coding|20/35|c.3585C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000407673|protein_coding|21/35|c.3585C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000407673|protein_coding|18/35|c.3585C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000407673|protein_coding|19/35|c.3585C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000407673|protein_coding|20/35|c.3585C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000401624|protein_coding|23/36|c.3690C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000401624|protein_coding|20/36|c.3690C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000401624|protein_coding|25/36|c.3690C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000401624|protein_coding|24/36|c.3690C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000401624|protein_coding|18/36|c.3690C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000401624|protein_coding|21/36|c.3690C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000401624|protein_coding|22/36|c.3690C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000401624|protein_coding|19/36|c.3690C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000401624|protein_coding|20/36|c.3690C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000401624|protein_coding|21/36|c.3690C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000404898|protein_coding|22/36|c.3585C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000404898|protein_coding|19/36|c.3585C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000404898|protein_coding|24/36|c.3585C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000404898|protein_coding|23/36|c.3585C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000404898|protein_coding|17/36|c.3585C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000404898|protein_coding|20/36|c.3585C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000404898|protein_coding|21/36|c.3585C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000404898|protein_coding|18/36|c.3585C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000404898|protein_coding|19/36|c.3585C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000404898|protein_coding|20/36|c.3585C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000402142|protein_coding|23/37|c.3690C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000402142|protein_coding|20/37|c.3690C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000402142|protein_coding|25/37|c.3690C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000402142|protein_coding|24/37|c.3690C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000402142|protein_coding|18/37|c.3690C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000402142|protein_coding|21/37|c.3690C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000402142|protein_coding|22/37|c.3690C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000402142|protein_coding|19/37|c.3690C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000402142|protein_coding|20/37|c.3690C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000402142|protein_coding|21/37|c.3690C>T|||||| 22 40060887 . C T . . ANN=T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|24/40|c.3828C>T|p.Val1276Val|3828/10015|3828/6690|1276/2229||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|20/35|c.3705C>T|p.Val1235Val|3705/5952|3705/5946|1235/1981||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|21/36|c.3810C>T|p.Val1270Val|3810/6740|3810/6051|1270/2016||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|23/39|c.3705C>T|p.Val1235Val|3705/9892|3705/6567|1235/2188||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|20/36|c.3705C>T|p.Val1235Val|3705/9892|3705/6567|1235/2188||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|21/37|c.3810C>T|p.Val1270Val|3810/10004|3810/6672|1270/2223||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000407673|protein_coding|22/35|c.3705C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000407673|protein_coding|19/35|c.3705C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000407673|protein_coding|24/35|c.3705C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000407673|protein_coding|23/35|c.3705C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000407673|protein_coding|17/35|c.3705C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000407673|protein_coding|20/35|c.3705C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000407673|protein_coding|21/35|c.3705C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000407673|protein_coding|18/35|c.3705C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000407673|protein_coding|20/35|c.3705C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000401624|protein_coding|23/36|c.3810C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000401624|protein_coding|20/36|c.3810C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000401624|protein_coding|25/36|c.3810C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000401624|protein_coding|24/36|c.3810C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000401624|protein_coding|18/36|c.3810C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000401624|protein_coding|21/36|c.3810C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000401624|protein_coding|22/36|c.3810C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000401624|protein_coding|19/36|c.3810C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000401624|protein_coding|21/36|c.3810C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000404898|protein_coding|22/36|c.3705C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000404898|protein_coding|19/36|c.3705C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000404898|protein_coding|24/36|c.3705C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000404898|protein_coding|23/36|c.3705C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000404898|protein_coding|17/36|c.3705C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000404898|protein_coding|20/36|c.3705C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000404898|protein_coding|21/36|c.3705C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000404898|protein_coding|18/36|c.3705C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000404898|protein_coding|20/36|c.3705C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000402142|protein_coding|23/37|c.3810C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000402142|protein_coding|20/37|c.3810C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000402142|protein_coding|25/37|c.3810C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000402142|protein_coding|24/37|c.3810C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000402142|protein_coding|18/37|c.3810C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000402142|protein_coding|21/37|c.3810C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000402142|protein_coding|22/37|c.3810C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000402142|protein_coding|19/37|c.3810C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000402142|protein_coding|21/37|c.3810C>T|||||| 22 40061497 . C T . . 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T C . . 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22 40064419 . T A . . ANN=A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000407673|protein_coding|22/35|c.4089+33T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000407673|protein_coding|19/35|c.4089+33T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000407673|protein_coding|24/35|c.4089+33T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000407673|protein_coding|23/35|c.4089+33T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000407673|protein_coding|17/35|c.4089+33T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000407673|protein_coding|20/35|c.4089+33T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000407673|protein_coding|21/35|c.4089+33T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000407673|protein_coding|18/35|c.4089+33T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000407673|protein_coding|22/35|c.4089+33T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000407673|protein_coding|24/35|c.4089+33T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000407673|protein_coding|23/35|c.4089+33T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000407673|protein_coding|21/35|c.4089+33T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000401624|protein_coding|23/36|c.4194+33T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000401624|protein_coding|20/36|c.4194+33T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000401624|protein_coding|25/36|c.4194+33T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000401624|protein_coding|24/36|c.4194+33T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000401624|protein_coding|18/36|c.4194+33T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000401624|protein_coding|21/36|c.4194+33T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000401624|protein_coding|22/36|c.4194+33T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000401624|protein_coding|19/36|c.4194+33T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000401624|protein_coding|23/36|c.4194+33T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000401624|protein_coding|25/36|c.4194+33T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000401624|protein_coding|24/36|c.4194+33T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000401624|protein_coding|22/36|c.4194+33T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000404898|protein_coding|22/36|c.4089+33T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000404898|protein_coding|19/36|c.4089+33T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000404898|protein_coding|24/36|c.4089+33T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000404898|protein_coding|23/36|c.4089+33T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000404898|protein_coding|17/36|c.4089+33T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000404898|protein_coding|20/36|c.4089+33T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000404898|protein_coding|21/36|c.4089+33T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000404898|protein_coding|18/36|c.4089+33T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000404898|protein_coding|22/36|c.4089+33T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000404898|protein_coding|24/36|c.4089+33T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000404898|protein_coding|23/36|c.4089+33T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000404898|protein_coding|21/36|c.4089+33T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000402142|protein_coding|23/37|c.4194+33T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000402142|protein_coding|20/37|c.4194+33T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000402142|protein_coding|25/37|c.4194+33T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000402142|protein_coding|24/37|c.4194+33T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000402142|protein_coding|18/37|c.4194+33T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000402142|protein_coding|21/37|c.4194+33T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000402142|protein_coding|22/37|c.4194+33T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000402142|protein_coding|19/37|c.4194+33T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000402142|protein_coding|23/37|c.4194+33T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000402142|protein_coding|25/37|c.4194+33T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000402142|protein_coding|24/37|c.4194+33T>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000402142|protein_coding|22/37|c.4194+33T>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|27/39|c.4212+33T>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|23/34|c.4089+33T>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|24/35|c.4194+33T>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|26/38|c.4089+33T>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|23/35|c.4089+33T>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|24/36|c.4194+33T>A|||||| 22 40066114 . G T . . ANN=T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|28/40|c.4284G>T|p.Val1428Val|4284/10015|4284/6690|1428/2229||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|24/35|c.4161G>T|p.Val1387Val|4161/5952|4161/5946|1387/1981||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|25/36|c.4266G>T|p.Val1422Val|4266/6740|4266/6051|1422/2016||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|27/39|c.4161G>T|p.Val1387Val|4161/9892|4161/6567|1387/2188||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|24/36|c.4161G>T|p.Val1387Val|4161/9892|4161/6567|1387/2188||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|25/37|c.4266G>T|p.Val1422Val|4266/10004|4266/6672|1422/2223||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000407673|protein_coding|22/35|c.4161G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000407673|protein_coding|19/35|c.4161G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000407673|protein_coding|24/35|c.4161G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000407673|protein_coding|23/35|c.4161G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000407673|protein_coding|17/35|c.4161G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000407673|protein_coding|20/35|c.4161G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000407673|protein_coding|21/35|c.4161G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000407673|protein_coding|18/35|c.4161G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000407673|protein_coding|24/35|c.4161G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000401624|protein_coding|23/36|c.4266G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000401624|protein_coding|20/36|c.4266G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000401624|protein_coding|25/36|c.4266G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000401624|protein_coding|24/36|c.4266G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000401624|protein_coding|18/36|c.4266G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000401624|protein_coding|21/36|c.4266G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000401624|protein_coding|22/36|c.4266G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000401624|protein_coding|19/36|c.4266G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000401624|protein_coding|25/36|c.4266G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000404898|protein_coding|22/36|c.4161G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000404898|protein_coding|19/36|c.4161G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000404898|protein_coding|24/36|c.4161G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000404898|protein_coding|23/36|c.4161G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000404898|protein_coding|17/36|c.4161G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000404898|protein_coding|20/36|c.4161G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000404898|protein_coding|21/36|c.4161G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000404898|protein_coding|18/36|c.4161G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000404898|protein_coding|24/36|c.4161G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000402142|protein_coding|23/37|c.4266G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000402142|protein_coding|20/37|c.4266G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000402142|protein_coding|25/37|c.4266G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000402142|protein_coding|24/37|c.4266G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000402142|protein_coding|18/37|c.4266G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000402142|protein_coding|21/37|c.4266G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000402142|protein_coding|22/37|c.4266G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000402142|protein_coding|19/37|c.4266G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000402142|protein_coding|25/37|c.4266G>T|||||| 22 40066117 . C T . . ANN=T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|28/40|c.4287C>T|p.Leu1429Leu|4287/10015|4287/6690|1429/2229||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|24/35|c.4164C>T|p.Leu1388Leu|4164/5952|4164/5946|1388/1981||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|25/36|c.4269C>T|p.Leu1423Leu|4269/6740|4269/6051|1423/2016||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|27/39|c.4164C>T|p.Leu1388Leu|4164/9892|4164/6567|1388/2188||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|24/36|c.4164C>T|p.Leu1388Leu|4164/9892|4164/6567|1388/2188||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|25/37|c.4269C>T|p.Leu1423Leu|4269/10004|4269/6672|1423/2223||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000407673|protein_coding|22/35|c.4164C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000407673|protein_coding|19/35|c.4164C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000407673|protein_coding|24/35|c.4164C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000407673|protein_coding|23/35|c.4164C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000407673|protein_coding|17/35|c.4164C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000407673|protein_coding|20/35|c.4164C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000407673|protein_coding|21/35|c.4164C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000407673|protein_coding|18/35|c.4164C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000407673|protein_coding|24/35|c.4164C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000401624|protein_coding|23/36|c.4269C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000401624|protein_coding|20/36|c.4269C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000401624|protein_coding|25/36|c.4269C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000401624|protein_coding|24/36|c.4269C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000401624|protein_coding|18/36|c.4269C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000401624|protein_coding|21/36|c.4269C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000401624|protein_coding|22/36|c.4269C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000401624|protein_coding|19/36|c.4269C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000401624|protein_coding|25/36|c.4269C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000404898|protein_coding|22/36|c.4164C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000404898|protein_coding|19/36|c.4164C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000404898|protein_coding|24/36|c.4164C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000404898|protein_coding|23/36|c.4164C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000404898|protein_coding|17/36|c.4164C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000404898|protein_coding|20/36|c.4164C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000404898|protein_coding|21/36|c.4164C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000404898|protein_coding|18/36|c.4164C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000404898|protein_coding|24/36|c.4164C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000402142|protein_coding|23/37|c.4269C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000402142|protein_coding|20/37|c.4269C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000402142|protein_coding|25/37|c.4269C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000402142|protein_coding|24/37|c.4269C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000402142|protein_coding|18/37|c.4269C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000402142|protein_coding|21/37|c.4269C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000402142|protein_coding|22/37|c.4269C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000402142|protein_coding|19/37|c.4269C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000402142|protein_coding|25/37|c.4269C>T|||||| 22 40066920 . C T . . ANN=T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|29/40|c.4518C>T|p.Asn1506Asn|4518/10015|4518/6690|1506/2229||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|25/35|c.4395C>T|p.Asn1465Asn|4395/5952|4395/5946|1465/1981||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|26/36|c.4500C>T|p.Asn1500Asn|4500/6740|4500/6051|1500/2016||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|28/39|c.4395C>T|p.Asn1465Asn|4395/9892|4395/6567|1465/2188||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|25/36|c.4395C>T|p.Asn1465Asn|4395/9892|4395/6567|1465/2188||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|26/37|c.4500C>T|p.Asn1500Asn|4500/10004|4500/6672|1500/2223||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000407673|protein_coding|25/35|c.4395C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000407673|protein_coding|26/35|c.4395C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000407673|protein_coding|28/35|c.4395C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000407673|protein_coding|31/35|c.4395C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000407673|protein_coding|27/35|c.4395C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000407673|protein_coding|29/35|c.4395C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000407673|protein_coding|30/35|c.4395C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000407673|protein_coding|25/35|c.4395C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000401624|protein_coding|26/36|c.4500C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000401624|protein_coding|27/36|c.4500C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000401624|protein_coding|29/36|c.4500C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000401624|protein_coding|32/36|c.4500C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000401624|protein_coding|28/36|c.4500C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000401624|protein_coding|30/36|c.4500C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000401624|protein_coding|31/36|c.4500C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000401624|protein_coding|26/36|c.4500C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000404898|protein_coding|25/36|c.4395C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000404898|protein_coding|26/36|c.4395C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000404898|protein_coding|28/36|c.4395C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000404898|protein_coding|31/36|c.4395C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000404898|protein_coding|27/36|c.4395C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000404898|protein_coding|29/36|c.4395C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000404898|protein_coding|30/36|c.4395C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000404898|protein_coding|25/36|c.4395C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000402142|protein_coding|26/37|c.4500C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000402142|protein_coding|27/37|c.4500C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000402142|protein_coding|29/37|c.4500C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000402142|protein_coding|32/37|c.4500C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000402142|protein_coding|28/37|c.4500C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000402142|protein_coding|30/37|c.4500C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000402142|protein_coding|31/37|c.4500C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000402142|protein_coding|26/37|c.4500C>T|||||| 22 40066958 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|29/40|c.4556C>T|p.Thr1519Met|4556/10015|4556/6690|1519/2229||,T|missense_variant&splice_region_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|25/35|c.4433C>T|p.Thr1478Met|4433/5952|4433/5946|1478/1981||,T|missense_variant&splice_region_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|26/36|c.4538C>T|p.Thr1513Met|4538/6740|4538/6051|1513/2016||,T|missense_variant&splice_region_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|28/39|c.4433C>T|p.Thr1478Met|4433/9892|4433/6567|1478/2188||,T|missense_variant&splice_region_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|25/36|c.4433C>T|p.Thr1478Met|4433/9892|4433/6567|1478/2188||,T|missense_variant&splice_region_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|26/37|c.4538C>T|p.Thr1513Met|4538/10004|4538/6672|1513/2223||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000407673|protein_coding|25/35|c.4433C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000407673|protein_coding|26/35|c.4433C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000407673|protein_coding|28/35|c.4433C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000407673|protein_coding|31/35|c.4433C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000407673|protein_coding|27/35|c.4433C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000407673|protein_coding|29/35|c.4433C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000407673|protein_coding|30/35|c.4433C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000407673|protein_coding|25/35|c.4433C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000407673|protein_coding|26/35|c.4433C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000401624|protein_coding|26/36|c.4538C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000401624|protein_coding|27/36|c.4538C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000401624|protein_coding|29/36|c.4538C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000401624|protein_coding|32/36|c.4538C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000401624|protein_coding|28/36|c.4538C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000401624|protein_coding|30/36|c.4538C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000401624|protein_coding|31/36|c.4538C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000401624|protein_coding|26/36|c.4538C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000401624|protein_coding|27/36|c.4538C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000404898|protein_coding|25/36|c.4433C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000404898|protein_coding|26/36|c.4433C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000404898|protein_coding|28/36|c.4433C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000404898|protein_coding|31/36|c.4433C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000404898|protein_coding|27/36|c.4433C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000404898|protein_coding|29/36|c.4433C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000404898|protein_coding|30/36|c.4433C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000404898|protein_coding|25/36|c.4433C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000404898|protein_coding|26/36|c.4433C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000402142|protein_coding|26/37|c.4538C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000402142|protein_coding|27/37|c.4538C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000402142|protein_coding|29/37|c.4538C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000402142|protein_coding|32/37|c.4538C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000402142|protein_coding|28/37|c.4538C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000402142|protein_coding|30/37|c.4538C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000402142|protein_coding|31/37|c.4538C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000402142|protein_coding|26/37|c.4538C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000402142|protein_coding|27/37|c.4538C>T|||||| 22 40069029 . G A . . 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G T . . ANN=T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000407673|protein_coding|25/35|c.4678+17G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000407673|protein_coding|26/35|c.4678+17G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000407673|protein_coding|28/35|c.4678+17G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000407673|protein_coding|31/35|c.4678+17G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000407673|protein_coding|27/35|c.4678+17G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000407673|protein_coding|29/35|c.4678+17G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000407673|protein_coding|30/35|c.4678+17G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000407673|protein_coding|28/35|c.4678+17G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000407673|protein_coding|27/35|c.4678+17G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000401624|protein_coding|26/36|c.4783+17G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000401624|protein_coding|27/36|c.4783+17G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000401624|protein_coding|29/36|c.4783+17G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000401624|protein_coding|32/36|c.4783+17G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000401624|protein_coding|28/36|c.4783+17G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000401624|protein_coding|30/36|c.4783+17G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000401624|protein_coding|31/36|c.4783+17G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000401624|protein_coding|29/36|c.4783+17G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000401624|protein_coding|28/36|c.4783+17G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000404898|protein_coding|25/36|c.4678+17G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000404898|protein_coding|26/36|c.4678+17G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000404898|protein_coding|28/36|c.4678+17G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000404898|protein_coding|31/36|c.4678+17G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000404898|protein_coding|27/36|c.4678+17G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000404898|protein_coding|29/36|c.4678+17G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000404898|protein_coding|30/36|c.4678+17G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000404898|protein_coding|28/36|c.4678+17G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000404898|protein_coding|27/36|c.4678+17G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000402142|protein_coding|26/37|c.4783+17G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000402142|protein_coding|27/37|c.4783+17G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000402142|protein_coding|29/37|c.4783+17G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000402142|protein_coding|32/37|c.4783+17G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000402142|protein_coding|28/37|c.4783+17G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000402142|protein_coding|30/37|c.4783+17G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000402142|protein_coding|31/37|c.4783+17G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000402142|protein_coding|29/37|c.4783+17G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000402142|protein_coding|28/37|c.4783+17G>T||||||,T|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|31/39|c.4801+17G>T||||||,T|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|27/34|c.4678+17G>T||||||,T|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|28/35|c.4783+17G>T||||||,T|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|30/38|c.4678+17G>T||||||,T|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|27/35|c.4678+17G>T||||||,T|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_co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22 40069919 . G A . . 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22 40069928 . G A . . 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22 40070062 . C T . . 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G A . . 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G A . . 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22 40074125 . C A . . 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22 40075107 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|34/39|c.5074-5C>T||||||,T|splice_region_variant&intron_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|30/34|c.4951-5C>T||||||,T|splice_region_variant&intron_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|31/35|c.5056-5C>T||||||,T|splice_region_variant&intron_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|33/38|c.4951-5C>T||||||,T|splice_region_variant&intron_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|30/35|c.4951-5C>T||||||,T|splice_region_variant&intron_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|31/36|c.5056-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000407673|protein_coding|25/35|c.4951-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000407673|protein_coding|26/35|c.4951-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000407673|protein_coding|28/35|c.4951-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000407673|protein_coding|31/35|c.4951-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000407673|protein_coding|27/35|c.4951-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000407673|protein_coding|29/35|c.4951-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000407673|protein_coding|30/35|c.4951-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000407673|protein_coding|31/35|c.4951-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000407673|protein_coding|29/35|c.4951-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000407673|protein_coding|30/35|c.4951-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000401624|protein_coding|26/36|c.5056-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000401624|protein_coding|27/36|c.5056-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000401624|protein_coding|29/36|c.5056-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000401624|protein_coding|32/36|c.5056-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000401624|protein_coding|28/36|c.5056-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000401624|protein_coding|30/36|c.5056-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000401624|protein_coding|31/36|c.5056-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000401624|protein_coding|32/36|c.5056-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000401624|protein_coding|30/36|c.5056-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000401624|protein_coding|31/36|c.5056-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000404898|protein_coding|25/36|c.4951-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000404898|protein_coding|26/36|c.4951-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000404898|protein_coding|28/36|c.4951-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000404898|protein_coding|31/36|c.4951-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000404898|protein_coding|27/36|c.4951-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000404898|protein_coding|29/36|c.4951-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000404898|protein_coding|30/36|c.4951-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000404898|protein_coding|31/36|c.4951-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000404898|protein_coding|29/36|c.4951-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000404898|protein_coding|30/36|c.4951-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000402142|protein_coding|26/37|c.5056-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000402142|protein_coding|27/37|c.5056-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000402142|protein_coding|29/37|c.5056-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000402142|protein_coding|32/37|c.5056-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000402142|protein_coding|28/37|c.5056-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000402142|protein_coding|30/37|c.5056-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000402142|protein_coding|31/37|c.5056-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000402142|protein_coding|32/37|c.5056-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000402142|protein_coding|30/37|c.5056-5C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000402142|protein_coding|31/37|c.5056-5C>T|||||| 22 40075195 . C T . . ANN=T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|35/40|c.5157C>T|p.Phe1719Phe|5157/10015|5157/6690|1719/2229||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|31/35|c.5034C>T|p.Phe1678Phe|5034/5952|5034/5946|1678/1981||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|32/36|c.5139C>T|p.Phe1713Phe|5139/6740|5139/6051|1713/2016||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|34/39|c.5034C>T|p.Phe1678Phe|5034/9892|5034/6567|1678/2188||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|31/36|c.5034C>T|p.Phe1678Phe|5034/9892|5034/6567|1678/2188||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|32/37|c.5139C>T|p.Phe1713Phe|5139/10004|5139/6672|1713/2223||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000407673|protein_coding|25/35|c.5034C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000407673|protein_coding|26/35|c.5034C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000407673|protein_coding|28/35|c.5034C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000407673|protein_coding|31/35|c.5034C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000407673|protein_coding|27/35|c.5034C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000407673|protein_coding|29/35|c.5034C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000407673|protein_coding|30/35|c.5034C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000407673|protein_coding|31/35|c.5034C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000401624|protein_coding|26/36|c.5139C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000401624|protein_coding|27/36|c.5139C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000401624|protein_coding|29/36|c.5139C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000401624|protein_coding|32/36|c.5139C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000401624|protein_coding|28/36|c.5139C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000401624|protein_coding|30/36|c.5139C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000401624|protein_coding|31/36|c.5139C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000401624|protein_coding|32/36|c.5139C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000404898|protein_coding|25/36|c.5034C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000404898|protein_coding|26/36|c.5034C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000404898|protein_coding|28/36|c.5034C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000404898|protein_coding|31/36|c.5034C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000404898|protein_coding|27/36|c.5034C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000404898|protein_coding|29/36|c.5034C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000404898|protein_coding|30/36|c.5034C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000404898|protein_coding|31/36|c.5034C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000402142|protein_coding|26/37|c.5139C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000402142|protein_coding|27/37|c.5139C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000402142|protein_coding|29/37|c.5139C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000402142|protein_coding|32/37|c.5139C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000402142|protein_coding|28/37|c.5139C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000402142|protein_coding|30/37|c.5139C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:IV|ENST00000402142|protein_coding|31/37|c.5139C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|transmembrane_region:Transmembrane_region|ENST00000402142|protein_coding|32/37|c.5139C>T|||||| 22 40075324 . T C . . ANN=C|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|35/40|c.5286T>C|p.His1762His|5286/10015|5286/6690|1762/2229||,C|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|31/35|c.5163T>C|p.His1721His|5163/5952|5163/5946|1721/1981||,C|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|32/36|c.5268T>C|p.His1756His|5268/6740|5268/6051|1756/2016||,C|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|34/39|c.5163T>C|p.His1721His|5163/9892|5163/6567|1721/2188||,C|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|31/36|c.5163T>C|p.His1721His|5163/9892|5163/6567|1721/2188||,C|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|32/37|c.5268T>C|p.His1756His|5268/10004|5268/6672|1756/2223||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|32/36|c.5163T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|36/36|c.5163T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|35/36|c.5163T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|34/36|c.5163T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|31/36|c.5163T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|33/36|c.5163T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|33/37|c.5268T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|37/37|c.5268T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|36/37|c.5268T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|35/37|c.5268T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|32/37|c.5268T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|34/37|c.5268T>C|||||| 22 40075341 . C T . . ANN=T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|35/40|c.5303C>T|p.Pro1768Leu|5303/10015|5303/6690|1768/2229||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|31/35|c.5180C>T|p.Pro1727Leu|5180/5952|5180/5946|1727/1981||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|32/36|c.5285C>T|p.Pro1762Leu|5285/6740|5285/6051|1762/2016||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|34/39|c.5180C>T|p.Pro1727Leu|5180/9892|5180/6567|1727/2188||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|31/36|c.5180C>T|p.Pro1727Leu|5180/9892|5180/6567|1727/2188||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|32/37|c.5285C>T|p.Pro1762Leu|5285/10004|5285/6672|1762/2223||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|32/36|c.5180C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|36/36|c.5180C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|35/36|c.5180C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|34/36|c.5180C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|31/36|c.5180C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|33/36|c.5180C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|33/37|c.5285C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|37/37|c.5285C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|36/37|c.5285C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|35/37|c.5285C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|32/37|c.5285C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|34/37|c.5285C>T|||||| 22 40075683 . G A . . ANN=A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|32/36|c.5290-44G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|36/36|c.5290-44G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|35/36|c.5290-44G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|34/36|c.5290-44G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|31/36|c.5290-44G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|33/36|c.5290-44G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|33/37|c.5395-44G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|37/37|c.5395-44G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|36/37|c.5395-44G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|35/37|c.5395-44G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|32/37|c.5395-44G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|34/37|c.5395-44G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|35/39|c.5413-44G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|31/34|c.5290-44G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|32/35|c.5395-44G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|34/38|c.5290-44G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|31/35|c.5290-44G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|32/36|c.5395-44G>A|||||| 22 40075733 . C A . . ANN=A|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|36/40|c.5419C>A|p.Leu1807Met|5419/10015|5419/6690|1807/2229||,A|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|32/35|c.5296C>A|p.Leu1766Met|5296/5952|5296/5946|1766/1981||,A|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|33/36|c.5401C>A|p.Leu1801Met|5401/6740|5401/6051|1801/2016||,A|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|35/39|c.5296C>A|p.Leu1766Met|5296/9892|5296/6567|1766/2188||,A|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|32/36|c.5296C>A|p.Leu1766Met|5296/9892|5296/6567|1766/2188||,A|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|33/37|c.5401C>A|p.Leu1801Met|5401/10004|5401/6672|1801/2223||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|32/36|c.5296C>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|36/36|c.5296C>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|35/36|c.5296C>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|34/36|c.5296C>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|31/36|c.5296C>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|33/36|c.5296C>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|33/37|c.5401C>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|37/37|c.5401C>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|36/37|c.5401C>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|35/37|c.5401C>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|32/37|c.5401C>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|34/37|c.5401C>A|||||| 22 40075825 . C T . . ANN=T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|36/40|c.5511C>T|p.His1837His|5511/10015|5511/6690|1837/2229||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|32/35|c.5388C>T|p.His1796His|5388/5952|5388/5946|1796/1981||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|33/36|c.5493C>T|p.His1831His|5493/6740|5493/6051|1831/2016||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|35/39|c.5388C>T|p.His1796His|5388/9892|5388/6567|1796/2188||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|32/36|c.5388C>T|p.His1796His|5388/9892|5388/6567|1796/2188||,T|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|33/37|c.5493C>T|p.His1831His|5493/10004|5493/6672|1831/2223||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|32/36|c.5388C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|36/36|c.5388C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|35/36|c.5388C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|34/36|c.5388C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|31/36|c.5388C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|33/36|c.5388C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|33/37|c.5493C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|37/37|c.5493C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|36/37|c.5493C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|35/37|c.5493C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|32/37|c.5493C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|34/37|c.5493C>T|||||| 22 40075834 . G A . . ANN=A|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|36/40|c.5520G>A|p.Ser1840Ser|5520/10015|5520/6690|1840/2229||,A|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|32/35|c.5397G>A|p.Ser1799Ser|5397/5952|5397/5946|1799/1981||,A|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|33/36|c.5502G>A|p.Ser1834Ser|5502/6740|5502/6051|1834/2016||,A|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|35/39|c.5397G>A|p.Ser1799Ser|5397/9892|5397/6567|1799/2188||,A|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|32/36|c.5397G>A|p.Ser1799Ser|5397/9892|5397/6567|1799/2188||,A|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|33/37|c.5502G>A|p.Ser1834Ser|5502/10004|5502/6672|1834/2223||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|32/36|c.5397G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|36/36|c.5397G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|35/36|c.5397G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|34/36|c.5397G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|31/36|c.5397G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|33/36|c.5397G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|33/37|c.5502G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|37/37|c.5502G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|36/37|c.5502G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|35/37|c.5502G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|32/37|c.5502G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|34/37|c.5502G>A|||||| 22 40075887 . G A . . ANN=A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|32/36|c.5436+14G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|36/36|c.5436+14G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|35/36|c.5436+14G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|34/36|c.5436+14G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|31/36|c.5436+14G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|33/36|c.5436+14G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|33/37|c.5541+14G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|37/37|c.5541+14G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|36/37|c.5541+14G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|35/37|c.5541+14G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|32/37|c.5541+14G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|34/37|c.5541+14G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|36/39|c.5559+14G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|32/34|c.5436+14G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|33/35|c.5541+14G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|35/38|c.5436+14G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|32/35|c.5436+14G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|33/36|c.5541+14G>A|||||| 22 40075897 . G A . . ANN=A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|32/36|c.5436+24G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|36/36|c.5436+24G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|35/36|c.5436+24G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|34/36|c.5436+24G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|31/36|c.5436+24G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|33/36|c.5436+24G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|33/37|c.5541+24G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|37/37|c.5541+24G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|36/37|c.5541+24G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|35/37|c.5541+24G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|32/37|c.5541+24G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|34/37|c.5541+24G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|36/39|c.5559+24G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|32/34|c.5436+24G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|33/35|c.5541+24G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|35/38|c.5436+24G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|32/35|c.5436+24G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|33/36|c.5541+24G>A|||||| 22 40076912 . G A . . ANN=A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|32/36|c.5437-23G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|36/36|c.5437-23G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|35/36|c.5437-23G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|34/36|c.5437-23G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|31/36|c.5437-23G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|33/36|c.5437-23G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|33/37|c.5542-23G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|37/37|c.5542-23G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|36/37|c.5542-23G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|35/37|c.5542-23G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|32/37|c.5542-23G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|34/37|c.5542-23G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|36/39|c.5560-23G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|32/34|c.5437-23G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|33/35|c.5542-23G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|35/38|c.5437-23G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|32/35|c.5437-23G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|33/36|c.5542-23G>A|||||| 22 40077043 . C T . . ANN=T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|37/40|c.5668C>T|p.Arg1890Cys|5668/10015|5668/6690|1890/2229||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|33/35|c.5545C>T|p.Arg1849Cys|5545/5952|5545/5946|1849/1981||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|34/36|c.5650C>T|p.Arg1884Cys|5650/6740|5650/6051|1884/2016||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|36/39|c.5545C>T|p.Arg1849Cys|5545/9892|5545/6567|1849/2188||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|33/36|c.5545C>T|p.Arg1849Cys|5545/9892|5545/6567|1849/2188||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|34/37|c.5650C>T|p.Arg1884Cys|5650/10004|5650/6672|1884/2223||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|32/36|c.5545C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|36/36|c.5545C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|35/36|c.5545C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|34/36|c.5545C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|31/36|c.5545C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|33/36|c.5545C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|33/37|c.5650C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|37/37|c.5650C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|36/37|c.5650C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|35/37|c.5650C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|32/37|c.5650C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|34/37|c.5650C>T|||||| 22 40077088 . G A . . ANN=A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|32/36|c.5559+31G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|36/36|c.5559+31G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|35/36|c.5559+31G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|34/36|c.5559+31G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|31/36|c.5559+31G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|33/36|c.5559+31G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|33/37|c.5664+31G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|37/37|c.5664+31G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|36/37|c.5664+31G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|35/37|c.5664+31G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|32/37|c.5664+31G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|34/37|c.5664+31G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|37/39|c.5682+31G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|33/34|c.5559+31G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|34/35|c.5664+31G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|36/38|c.5559+31G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|33/35|c.5559+31G>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|34/36|c.5664+31G>A|||||| 22 40078527 . G A . . ANN=A|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|38/40|c.5709G>A|p.Met1903Ile|5709/10015|5709/6690|1903/2229||,A|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|34/35|c.5586G>A|p.Met1862Ile|5586/5952|5586/5946|1862/1981||,A|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|35/36|c.5691G>A|p.Met1897Ile|5691/6740|5691/6051|1897/2016||,A|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|37/39|c.5586G>A|p.Met1862Ile|5586/9892|5586/6567|1862/2188||,A|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|34/36|c.5586G>A|p.Met1862Ile|5586/9892|5586/6567|1862/2188||,A|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|35/37|c.5691G>A|p.Met1897Ile|5691/10004|5691/6672|1897/2223||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|32/36|c.5586G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|36/36|c.5586G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|35/36|c.5586G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|34/36|c.5586G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|31/36|c.5586G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|33/36|c.5586G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|33/37|c.5691G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|37/37|c.5691G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|36/37|c.5691G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|35/37|c.5691G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|32/37|c.5691G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|34/37|c.5691G>A|||||| 22 40078528 . C T . . ANN=T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|38/40|c.5710C>T|p.Arg1904Cys|5710/10015|5710/6690|1904/2229||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|34/35|c.5587C>T|p.Arg1863Cys|5587/5952|5587/5946|1863/1981||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|35/36|c.5692C>T|p.Arg1898Cys|5692/6740|5692/6051|1898/2016||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|37/39|c.5587C>T|p.Arg1863Cys|5587/9892|5587/6567|1863/2188||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|34/36|c.5587C>T|p.Arg1863Cys|5587/9892|5587/6567|1863/2188||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|35/37|c.5692C>T|p.Arg1898Cys|5692/10004|5692/6672|1898/2223||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|32/36|c.5587C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|36/36|c.5587C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|35/36|c.5587C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|34/36|c.5587C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|31/36|c.5587C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|33/36|c.5587C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|33/37|c.5692C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|37/37|c.5692C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|36/37|c.5692C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|35/37|c.5692C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|32/37|c.5692C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|34/37|c.5692C>T|||||| 22 40078536 . A C . . ANN=C|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|38/40|c.5718A>C|p.Gly1906Gly|5718/10015|5718/6690|1906/2229||,C|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|34/35|c.5595A>C|p.Gly1865Gly|5595/5952|5595/5946|1865/1981||,C|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|35/36|c.5700A>C|p.Gly1900Gly|5700/6740|5700/6051|1900/2016||,C|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|37/39|c.5595A>C|p.Gly1865Gly|5595/9892|5595/6567|1865/2188||,C|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|34/36|c.5595A>C|p.Gly1865Gly|5595/9892|5595/6567|1865/2188||,C|synonymous_variant|LOW|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|35/37|c.5700A>C|p.Gly1900Gly|5700/10004|5700/6672|1900/2223||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|32/36|c.5595A>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|36/36|c.5595A>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|35/36|c.5595A>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|34/36|c.5595A>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|31/36|c.5595A>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|33/36|c.5595A>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|33/37|c.5700A>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|37/37|c.5700A>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|36/37|c.5700A>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|35/37|c.5700A>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|32/37|c.5700A>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|34/37|c.5700A>C|||||| 22 40080349 . T C . . ANN=C|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|39/40|c.5891T>C|p.Leu1964Pro|5891/10015|5891/6690|1964/2229||,C|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|35/35|c.5768T>C|p.Leu1923Pro|5768/5952|5768/5946|1923/1981||,C|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|36/36|c.5873T>C|p.Leu1958Pro|5873/6740|5873/6051|1958/2016||,C|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|38/39|c.5768T>C|p.Leu1923Pro|5768/9892|5768/6567|1923/2188||,C|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|35/36|c.5768T>C|p.Leu1923Pro|5768/9892|5768/6567|1923/2188||,C|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|36/37|c.5873T>C|p.Leu1958Pro|5873/10004|5873/6672|1958/2223||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|32/36|c.5768T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|36/36|c.5768T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|35/36|c.5768T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|34/36|c.5768T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|31/36|c.5768T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|33/36|c.5768T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|33/37|c.5873T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|37/37|c.5873T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|36/37|c.5873T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|35/37|c.5873T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|32/37|c.5873T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|34/37|c.5873T>C|||||| 22 40139984 . A T . . ANN=T|synonymous_variant|LOW|ENTHD1|ENSG00000176177|transcript|ENST00000325157|protein_coding|7/7|c.1524T>A|p.Ile508Ile|1775/2710|1524/1824|508/607|| 22 40140046 . G A . . ANN=A|missense_variant|MODERATE|ENTHD1|ENSG00000176177|transcript|ENST00000325157|protein_coding|7/7|c.1462C>T|p.Leu488Phe|1713/2710|1462/1824|488/607|| 22 40140137 . G T . . ANN=T|synonymous_variant|LOW|ENTHD1|ENSG00000176177|transcript|ENST00000325157|protein_coding|7/7|c.1371C>A|p.Thr457Thr|1622/2710|1371/1824|457/607|| 22 40140163 . G A . . ANN=A|synonymous_variant|LOW|ENTHD1|ENSG00000176177|transcript|ENST00000325157|protein_coding|7/7|c.1345C>T|p.Leu449Leu|1596/2710|1345/1824|449/607|| 22 40140181 . C T . . ANN=T|missense_variant|MODERATE|ENTHD1|ENSG00000176177|transcript|ENST00000325157|protein_coding|7/7|c.1327G>A|p.Gly443Arg|1578/2710|1327/1824|443/607|| 22 40140299 . T C . . ANN=C|intron_variant|MODIFIER|ENTHD1|ENSG00000176177|transcript|ENST00000325157|protein_coding|6/6|c.1220-11A>G|||||| 22 40140303 . T C . . ANN=C|intron_variant|MODIFIER|ENTHD1|ENSG00000176177|transcript|ENST00000325157|protein_coding|6/6|c.1220-15A>G|||||| 22 40161282 . G C . . ANN=C|missense_variant|MODERATE|ENTHD1|ENSG00000176177|transcript|ENST00000325157|protein_coding|6/7|c.1165C>G|p.Pro389Ala|1416/2710|1165/1824|389/607|| 22 40161341 . GGA G . . ANN=|frameshift_variant|HIGH|ENTHD1|ENSG00000176177|transcript|ENST00000325157|protein_coding|6/7|c.1104_1105delTC|p.Ser368fs|1356/2710|1104/1824|368/607||;LOF=(ENTHD1|ENSG00000176177|2|0.50) 22 40161439 . C G . . ANN=G|missense_variant|MODERATE|ENTHD1|ENSG00000176177|transcript|ENST00000325157|protein_coding|6/7|c.1008G>C|p.Trp336Cys|1259/2710|1008/1824|336/607|| 22 40161527 . G T . . ANN=T|missense_variant|MODERATE|ENTHD1|ENSG00000176177|transcript|ENST00000325157|protein_coding|6/7|c.920C>A|p.Thr307Asn|1171/2710|920/1824|307/607|| 22 40161572 . C G . . ANN=G|missense_variant|MODERATE|ENTHD1|ENSG00000176177|transcript|ENST00000325157|protein_coding|6/7|c.875G>C|p.Arg292Thr|1126/2710|875/1824|292/607|| 22 40161646 . A G . . ANN=G|intron_variant|MODIFIER|ENTHD1|ENSG00000176177|transcript|ENST00000325157|protein_coding|5/6|c.833-32T>C|||||| 22 40217114 . A G . . ANN=G|missense_variant|MODERATE|ENTHD1|ENSG00000176177|transcript|ENST00000325157|protein_coding|5/7|c.716T>C|p.Leu239Pro|967/2710|716/1824|239/607|| 22 40217132 . C T . . ANN=T|intron_variant|MODIFIER|ENTHD1|ENSG00000176177|transcript|ENST00000325157|protein_coding|4/6|c.712-14G>A|||||| 22 40217139 . A G . . ANN=G|intron_variant|MODIFIER|ENTHD1|ENSG00000176177|transcript|ENST00000325157|protein_coding|4/6|c.712-21T>C|||||| 22 40217164 . A G . . ANN=G|intron_variant|MODIFIER|ENTHD1|ENSG00000176177|transcript|ENST00000325157|protein_coding|4/6|c.712-46T>C|||||| 22 40231839 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|ENTHD1|ENSG00000176177|transcript|ENST00000325157|protein_coding|4/6|c.711+6T>C|||||| 22 40231986 . G C . . ANN=C|intron_variant|MODIFIER|ENTHD1|ENSG00000176177|transcript|ENST00000325157|protein_coding|3/6|c.593-23C>G|||||| 22 40257783 . C G . . ANN=G|missense_variant|MODERATE|ENTHD1|ENSG00000176177|transcript|ENST00000325157|protein_coding|3/7|c.579G>C|p.Arg193Ser|830/2710|579/1824|193/607|| 22 40257834 . T G . . ANN=G|synonymous_variant|LOW|ENTHD1|ENSG00000176177|transcript|ENST00000325157|protein_coding|3/7|c.528A>C|p.Thr176Thr|779/2710|528/1824|176/607|| 22 40257887 . T C . . ANN=C|missense_variant|MODERATE|ENTHD1|ENSG00000176177|transcript|ENST00000325157|protein_coding|3/7|c.475A>G|p.Lys159Glu|726/2710|475/1824|159/607|| 22 40257994 . T C . . ANN=C|missense_variant|MODERATE|ENTHD1|ENSG00000176177|transcript|ENST00000325157|protein_coding|3/7|c.368A>G|p.Lys123Arg|619/2710|368/1824|123/607||,C|sequence_feature|LOW|ENTHD1|ENSG00000176177|domain:ENTH|ENST00000325157|protein_coding|2/7|c.368A>G||||||,C|sequence_feature|LOW|ENTHD1|ENSG00000176177|domain:ENTH|ENST00000325157|protein_coding|3/7|c.368A>G|||||| 22 40258001 . G A . . ANN=A|missense_variant|MODERATE|ENTHD1|ENSG00000176177|transcript|ENST00000325157|protein_coding|3/7|c.361C>T|p.Arg121Trp|612/2710|361/1824|121/607||,A|sequence_feature|LOW|ENTHD1|ENSG00000176177|domain:ENTH|ENST00000325157|protein_coding|2/7|c.361C>T||||||,A|sequence_feature|LOW|ENTHD1|ENSG00000176177|domain:ENTH|ENST00000325157|protein_coding|3/7|c.361C>T|||||| 22 40258005 . A G . . ANN=G|synonymous_variant|LOW|ENTHD1|ENSG00000176177|transcript|ENST00000325157|protein_coding|3/7|c.357T>C|p.Tyr119Tyr|608/2710|357/1824|119/607||,G|sequence_feature|LOW|ENTHD1|ENSG00000176177|domain:ENTH|ENST00000325157|protein_coding|2/7|c.357T>C||||||,G|sequence_feature|LOW|ENTHD1|ENSG00000176177|domain:ENTH|ENST00000325157|protein_coding|3/7|c.357T>C|||||| 22 40283365 . C G . . ANN=G|sequence_feature|LOW|ENTHD1|ENSG00000176177|domain:ENTH|ENST00000325157|protein_coding|2/7|c.349+39G>C||||||,G|sequence_feature|LOW|ENTHD1|ENSG00000176177|domain:ENTH|ENST00000325157|protein_coding|3/7|c.349+39G>C||||||,G|intron_variant|MODIFIER|ENTHD1|ENSG00000176177|transcript|ENST00000325157|protein_coding|2/6|c.349+39G>C|||||| 22 40283389 . T C . . ANN=C|sequence_feature|LOW|ENTHD1|ENSG00000176177|domain:ENTH|ENST00000325157|protein_coding|2/7|c.349+15A>G||||||,C|sequence_feature|LOW|ENTHD1|ENSG00000176177|domain:ENTH|ENST00000325157|protein_coding|3/7|c.349+15A>G||||||,C|intron_variant|MODIFIER|ENTHD1|ENSG00000176177|transcript|ENST00000325157|protein_coding|2/6|c.349+15A>G|||||| 22 40283427 . A G . . ANN=G|missense_variant|MODERATE|ENTHD1|ENSG00000176177|transcript|ENST00000325157|protein_coding|2/7|c.326T>C|p.Ile109Thr|577/2710|326/1824|109/607||,G|sequence_feature|LOW|ENTHD1|ENSG00000176177|domain:ENTH|ENST00000325157|protein_coding|2/7|c.326T>C||||||,G|sequence_feature|LOW|ENTHD1|ENSG00000176177|domain:ENTH|ENST00000325157|protein_coding|3/7|c.326T>C|||||| 22 40283543 . G A . . ANN=A|synonymous_variant|LOW|ENTHD1|ENSG00000176177|transcript|ENST00000325157|protein_coding|2/7|c.210C>T|p.His70His|461/2710|210/1824|70/607||,A|sequence_feature|LOW|ENTHD1|ENSG00000176177|domain:ENTH|ENST00000325157|protein_coding|2/7|c.210C>T||||||,A|sequence_feature|LOW|ENTHD1|ENSG00000176177|domain:ENTH|ENST00000325157|protein_coding|3/7|c.210C>T|||||| 22 40283561 . A G . . ANN=G|synonymous_variant|LOW|ENTHD1|ENSG00000176177|transcript|ENST00000325157|protein_coding|2/7|c.192T>C|p.His64His|443/2710|192/1824|64/607||,G|sequence_feature|LOW|ENTHD1|ENSG00000176177|domain:ENTH|ENST00000325157|protein_coding|2/7|c.192T>C||||||,G|sequence_feature|LOW|ENTHD1|ENSG00000176177|domain:ENTH|ENST00000325157|protein_coding|3/7|c.192T>C|||||| 22 40283682 . G A . . ANN=A|missense_variant|MODERATE|ENTHD1|ENSG00000176177|transcript|ENST00000325157|protein_coding|2/7|c.71C>T|p.Ala24Val|322/2710|71/1824|24/607||,A|sequence_feature|LOW|ENTHD1|ENSG00000176177|domain:ENTH|ENST00000325157|protein_coding|2/7|c.71C>T||||||,A|sequence_feature|LOW|ENTHD1|ENSG00000176177|domain:ENTH|ENST00000325157|protein_coding|3/7|c.71C>T|||||| 22 40283727 . T A . . ANN=A|missense_variant|MODERATE|ENTHD1|ENSG00000176177|transcript|ENST00000325157|protein_coding|2/7|c.26A>T|p.Asn9Ile|277/2710|26/1824|9/607||,A|sequence_feature|LOW|ENTHD1|ENSG00000176177|domain:ENTH|ENST00000325157|protein_coding|2/7|c.26A>T||||||,A|sequence_feature|LOW|ENTHD1|ENSG00000176177|domain:ENTH|ENST00000325157|protein_coding|3/7|c.26A>T|||||| 22 40343227 . T G . . ANN=G|sequence_feature|LOW|GRAP2|ENSG00000100351|domain:SH3_1|ENST00000407075|protein_coding|1/7|c.78+39T>G||||||,G|sequence_feature|LOW|GRAP2|ENSG00000100351|domain:SH3_1|ENST00000407075|protein_coding|2/7|c.78+39T>G||||||,G|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000344138|protein_coding|2/7|c.78+39T>G||||||,G|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000543252|protein_coding|2/7|c.78+39T>G||||||,G|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000540310|protein_coding|1/4|c.93-18767T>G||||||,G|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000420971|protein_coding|2/3|c.78+39T>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000478445|processed_transcript|1/3|n.252-8596T>G||||||,G|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000544756|protein_coding|2/6|c.-47+39T>G||||||,G|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000399090|protein_coding|1/4|c.1-12832T>G||||||,G|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000407075|protein_coding|1/6|c.78+39T>G||||||,G|non_coding_exon_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000461082|retained_intron|2/2|n.336T>G|||||| 22 40356068 . C T . . ANN=T|stop_gained|HIGH|GRAP2|ENSG00000100351|transcript|ENST00000399090|protein_coding|2/5|c.10C>T|p.Arg4*|227/1066|10/654|4/217||,T|synonymous_variant|LOW|GRAP2|ENSG00000100351|transcript|ENST00000344138|protein_coding|4/8|c.180C>T|p.His60His|443/3893|180/993|60/330||,T|synonymous_variant|LOW|GRAP2|ENSG00000100351|transcript|ENST00000420971|protein_coding|4/4|c.180C>T|p.His60His|457/568|180/291|60/96||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|GRAP2|ENSG00000100351|transcript|ENST00000407075|protein_coding|3/7|c.180C>T|p.His60His|470/1304|180/993|60/330||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|GRAP2|ENSG00000100351|transcript|ENST00000544756|protein_coding|3/7|c.-37C>T||||||,T|sequence_feature|LOW|GRAP2|ENSG00000100351|domain:SH2|ENST00000407075|protein_coding|4/7|c.180C>T||||||,T|sequence_feature|LOW|GRAP2|ENSG00000100351|domain:SH2|ENST00000407075|protein_coding|3/7|c.180C>T||||||,T|5_prime_UTR_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000544756|protein_coding|3/7|c.-37C>T|||||37|,T|upstream_gene_variant|MODIFIER|RP3-370M22.8|ENSG00000225528|transcript|ENST00000424496|sense_intronic||n.-1C>T|||||333|,T|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000543252|protein_coding|3/7|c.170+4154C>T||||||,T|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000540310|protein_coding|1/4|c.93-5926C>T||||||,T|non_coding_exon_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000478445|processed_transcript|3/4|n.353C>T||||||;LOF=(GRAP2|ENSG00000100351|11|0.09);NMD=(GRAP2|ENSG00000100351|11|0.09) 22 40356069 . G A . . ANN=A|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000344138|protein_coding|4/8|c.181G>A|p.Glu61Lys|444/3893|181/993|61/330||,A|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000420971|protein_coding|4/4|c.181G>A|p.Glu61Lys|458/568|181/291|61/96||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000399090|protein_coding|2/5|c.11G>A|p.Arg4Gln|228/1066|11/654|4/217||,A|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000407075|protein_coding|3/7|c.181G>A|p.Glu61Lys|471/1304|181/993|61/330||,A|sequence_feature|LOW|GRAP2|ENSG00000100351|domain:SH2|ENST00000407075|protein_coding|4/7|c.181G>A||||||,A|sequence_feature|LOW|GRAP2|ENSG00000100351|domain:SH2|ENST00000407075|protein_coding|3/7|c.181G>A||||||,A|5_prime_UTR_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000544756|protein_coding|3/7|c.-36G>A|||||36|,A|upstream_gene_variant|MODIFIER|RP3-370M22.8|ENSG00000225528|transcript|ENST00000424496|sense_intronic||n.-1G>A|||||332|,A|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000543252|protein_coding|3/7|c.170+4155G>A||||||,A|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000540310|protein_coding|1/4|c.93-5925G>A||||||,A|non_coding_exon_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000478445|processed_transcript|3/4|n.354G>A|||||| 22 40361957 . C T . . ANN=T|sequence_feature|LOW|GRAP2|ENSG00000100351|domain:SH2|ENST00000407075|protein_coding|4/7|c.291-37C>T||||||,T|sequence_feature|LOW|GRAP2|ENSG00000100351|domain:SH2|ENST00000407075|protein_coding|3/7|c.291-37C>T||||||,T|upstream_gene_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000481263|retained_intron||n.-1C>T|||||97|,T|upstream_gene_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000460449|retained_intron||n.-1C>T|||||3422|,T|downstream_gene_variant|MODIFIER|RP3-370M22.8|ENSG00000225528|transcript|ENST00000424496|sense_intronic||n.*1287C>T|||||1270|,T|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000344138|protein_coding|4/7|c.291-37C>T||||||,T|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000543252|protein_coding|3/7|c.171-37C>T||||||,T|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000540310|protein_coding|1/4|c.93-37C>T||||||,T|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000478445|processed_transcript|3/3|n.464-37C>T||||||,T|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000544756|protein_coding|3/6|c.75-37C>T||||||,T|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000399090|protein_coding|2/4|c.121-2089C>T||||||,T|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000407075|protein_coding|3/6|c.291-37C>T|||||| 22 40362211 . G A . . ANN=A|upstream_gene_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000460449|retained_intron||n.-1G>A|||||3168|,A|downstream_gene_variant|MODIFIER|RP3-370M22.8|ENSG00000225528|transcript|ENST00000424496|sense_intronic||n.*1287G>A|||||1524|,A|downstream_gene_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000478445|processed_transcript||n.*583G>A|||||98|,A|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000344138|protein_coding|5/7|c.459+49G>A||||||,A|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000543252|protein_coding|4/7|c.339+49G>A||||||,A|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000540310|protein_coding|2/4|c.261+49G>A||||||,A|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000544756|protein_coding|4/6|c.243+49G>A||||||,A|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000399090|protein_coding|2/4|c.121-1835G>A||||||,A|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000407075|protein_coding|4/6|c.459+49G>A||||||,A|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000481263|retained_intron|1/1|n.109+49G>A|||||| 22 40364039 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|GRAP2|ENSG00000100351|transcript|ENST00000344138|protein_coding|5/7|c.460-7C>T||||||,T|splice_region_variant&intron_variant|LOW|GRAP2|ENSG00000100351|transcript|ENST00000543252|protein_coding|4/7|c.340-7C>T||||||,T|splice_region_variant&intron_variant|LOW|GRAP2|ENSG00000100351|transcript|ENST00000540310|protein_coding|2/4|c.262-7C>T||||||,T|splice_region_variant&intron_variant|LOW|GRAP2|ENSG00000100351|transcript|ENST00000544756|protein_coding|4/6|c.244-7C>T||||||,T|splice_region_variant&intron_variant|LOW|GRAP2|ENSG00000100351|transcript|ENST00000399090|protein_coding|2/4|c.121-7C>T||||||,T|splice_region_variant&intron_variant|LOW|GRAP2|ENSG00000100351|transcript|ENST00000407075|protein_coding|4/6|c.460-7C>T||||||,T|splice_region_variant&intron_variant|LOW|GRAP2|ENSG00000100351|transcript|ENST00000481263|retained_intron|1/1|n.110-7C>T||||||,T|upstream_gene_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000460449|retained_intron||n.-1C>T|||||1340|,T|downstream_gene_variant|MODIFIER|RP3-370M22.8|ENSG00000225528|transcript|ENST00000424496|sense_intronic||n.*1287C>T|||||3352|,T|downstream_gene_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000478445|processed_transcript||n.*583C>T|||||1926| 22 40364052 . C T . . ANN=T|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000344138|protein_coding|6/8|c.466C>T|p.Arg156Trp|729/3893|466/993|156/330||,T|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000543252|protein_coding|5/8|c.346C>T|p.Arg116Trp|609/1100|346/837|116/278||,T|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000540310|protein_coding|3/5|c.268C>T|p.Arg90Trp|398/1279|268/795|90/264||,T|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000544756|protein_coding|5/7|c.250C>T|p.Arg84Trp|636/1425|250/777|84/258||,T|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000399090|protein_coding|3/5|c.127C>T|p.Arg43Trp|344/1066|127/654|43/217||,T|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000407075|protein_coding|5/7|c.466C>T|p.Arg156Trp|756/1304|466/993|156/330||,T|upstream_gene_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000460449|retained_intron||n.-1C>T|||||1327|,T|downstream_gene_variant|MODIFIER|RP3-370M22.8|ENSG00000225528|transcript|ENST00000424496|sense_intronic||n.*1287C>T|||||3365|,T|downstream_gene_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000478445|processed_transcript||n.*583C>T|||||1939|,T|non_coding_exon_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000481263|retained_intron|2/2|n.116C>T|||||| 22 40364122 . G A . . ANN=A|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000344138|protein_coding|6/8|c.536G>A|p.Arg179Gln|799/3893|536/993|179/330||,A|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000543252|protein_coding|5/8|c.416G>A|p.Arg139Gln|679/1100|416/837|139/278||,A|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000540310|protein_coding|3/5|c.338G>A|p.Arg113Gln|468/1279|338/795|113/264||,A|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000544756|protein_coding|5/7|c.320G>A|p.Arg107Gln|706/1425|320/777|107/258||,A|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000399090|protein_coding|3/5|c.197G>A|p.Arg66Gln|414/1066|197/654|66/217||,A|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000407075|protein_coding|5/7|c.536G>A|p.Arg179Gln|826/1304|536/993|179/330||,A|upstream_gene_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000460449|retained_intron||n.-1G>A|||||1257|,A|downstream_gene_variant|MODIFIER|RP3-370M22.8|ENSG00000225528|transcript|ENST00000424496|sense_intronic||n.*1287G>A|||||3435|,A|downstream_gene_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000478445|processed_transcript||n.*583G>A|||||2009|,A|non_coding_exon_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000481263|retained_intron|2/2|n.186G>A|||||| 22 40364307 . C T . . ANN=T|upstream_gene_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000460449|retained_intron||n.-1C>T|||||1072|,T|downstream_gene_variant|MODIFIER|RP3-370M22.8|ENSG00000225528|transcript|ENST00000424496|sense_intronic||n.*1287C>T|||||3620|,T|downstream_gene_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000478445|processed_transcript||n.*583C>T|||||2194|,T|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000344138|protein_coding|6/7|c.690+31C>T||||||,T|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000543252|protein_coding|5/7|c.570+31C>T||||||,T|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000540310|protein_coding|3/4|c.492+31C>T||||||,T|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000544756|protein_coding|5/6|c.474+31C>T||||||,T|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000399090|protein_coding|3/4|c.351+31C>T||||||,T|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000407075|protein_coding|5/6|c.690+31C>T||||||,T|non_coding_exon_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000481263|retained_intron|2/2|n.371C>T|||||| 22 40365390 . C G . . ANN=G|downstream_gene_variant|MODIFIER|RP3-370M22.8|ENSG00000225528|transcript|ENST00000424496|sense_intronic||n.*1287C>G|||||4703|,G|downstream_gene_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000478445|processed_transcript||n.*583C>G|||||3277|,G|downstream_gene_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000481263|retained_intron||n.*764C>G|||||690|,G|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000344138|protein_coding|6/7|c.691-25C>G||||||,G|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000543252|protein_coding|5/7|c.571-25C>G||||||,G|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000540310|protein_coding|3/4|c.493-25C>G||||||,G|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000544756|protein_coding|5/6|c.475-25C>G||||||,G|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000399090|protein_coding|3/4|c.352-25C>G||||||,G|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000407075|protein_coding|5/6|c.691-25C>G||||||,G|non_coding_exon_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000460449|retained_intron|1/2|n.12C>G|||||| 22 40365391 . C A . . ANN=A|downstream_gene_variant|MODIFIER|RP3-370M22.8|ENSG00000225528|transcript|ENST00000424496|sense_intronic||n.*1287C>A|||||4704|,A|downstream_gene_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000478445|processed_transcript||n.*583C>A|||||3278|,A|downstream_gene_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000481263|retained_intron||n.*764C>A|||||691|,A|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000344138|protein_coding|6/7|c.691-24C>A||||||,A|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000543252|protein_coding|5/7|c.571-24C>A||||||,A|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000540310|protein_coding|3/4|c.493-24C>A||||||,A|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000544756|protein_coding|5/6|c.475-24C>A||||||,A|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000399090|protein_coding|3/4|c.352-24C>A||||||,A|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000407075|protein_coding|5/6|c.691-24C>A||||||,A|non_coding_exon_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000460449|retained_intron|1/2|n.13C>A|||||| 22 40365463 . G A . . ANN=A|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000344138|protein_coding|7/8|c.739G>A|p.Gly247Ser|1002/3893|739/993|247/330||,A|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000543252|protein_coding|6/8|c.619G>A|p.Gly207Ser|882/1100|619/837|207/278||,A|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000540310|protein_coding|4/5|c.541G>A|p.Gly181Ser|671/1279|541/795|181/264||,A|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000544756|protein_coding|6/7|c.523G>A|p.Gly175Ser|909/1425|523/777|175/258||,A|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000399090|protein_coding|4/5|c.400G>A|p.Gly134Ser|617/1066|400/654|134/217||,A|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000407075|protein_coding|6/7|c.739G>A|p.Gly247Ser|1029/1304|739/993|247/330||,A|downstream_gene_variant|MODIFIER|RP3-370M22.8|ENSG00000225528|transcript|ENST00000424496|sense_intronic||n.*1287G>A|||||4776|,A|downstream_gene_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000478445|processed_transcript||n.*583G>A|||||3350|,A|downstream_gene_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000481263|retained_intron||n.*764G>A|||||763|,A|non_coding_exon_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000460449|retained_intron|1/2|n.85G>A|||||| 22 40365489 . C T . . ANN=T|synonymous_variant|LOW|GRAP2|ENSG00000100351|transcript|ENST00000344138|protein_coding|7/8|c.765C>T|p.Ala255Ala|1028/3893|765/993|255/330||,T|synonymous_variant|LOW|GRAP2|ENSG00000100351|transcript|ENST00000543252|protein_coding|6/8|c.645C>T|p.Ala215Ala|908/1100|645/837|215/278||,T|synonymous_variant|LOW|GRAP2|ENSG00000100351|transcript|ENST00000540310|protein_coding|4/5|c.567C>T|p.Ala189Ala|697/1279|567/795|189/264||,T|synonymous_variant|LOW|GRAP2|ENSG00000100351|transcript|ENST00000544756|protein_coding|6/7|c.549C>T|p.Ala183Ala|935/1425|549/777|183/258||,T|synonymous_variant|LOW|GRAP2|ENSG00000100351|transcript|ENST00000399090|protein_coding|4/5|c.426C>T|p.Ala142Ala|643/1066|426/654|142/217||,T|synonymous_variant|LOW|GRAP2|ENSG00000100351|transcript|ENST00000407075|protein_coding|6/7|c.765C>T|p.Ala255Ala|1055/1304|765/993|255/330||,T|downstream_gene_variant|MODIFIER|RP3-370M22.8|ENSG00000225528|transcript|ENST00000424496|sense_intronic||n.*1287C>T|||||4802|,T|downstream_gene_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000478445|processed_transcript||n.*583C>T|||||3376|,T|downstream_gene_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000481263|retained_intron||n.*764C>T|||||789|,T|non_coding_exon_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000460449|retained_intron|1/2|n.111C>T|||||| 22 40365525 . C G . . ANN=G|synonymous_variant|LOW|GRAP2|ENSG00000100351|transcript|ENST00000344138|protein_coding|7/8|c.801C>G|p.Leu267Leu|1064/3893|801/993|267/330||,G|synonymous_variant|LOW|GRAP2|ENSG00000100351|transcript|ENST00000543252|protein_coding|6/8|c.681C>G|p.Leu227Leu|944/1100|681/837|227/278||,G|synonymous_variant|LOW|GRAP2|ENSG00000100351|transcript|ENST00000540310|protein_coding|4/5|c.603C>G|p.Leu201Leu|733/1279|603/795|201/264||,G|synonymous_variant|LOW|GRAP2|ENSG00000100351|transcript|ENST00000544756|protein_coding|6/7|c.585C>G|p.Leu195Leu|971/1425|585/777|195/258||,G|synonymous_variant|LOW|GRAP2|ENSG00000100351|transcript|ENST00000399090|protein_coding|4/5|c.462C>G|p.Leu154Leu|679/1066|462/654|154/217||,G|synonymous_variant|LOW|GRAP2|ENSG00000100351|transcript|ENST00000407075|protein_coding|6/7|c.801C>G|p.Leu267Leu|1091/1304|801/993|267/330||,G|downstream_gene_variant|MODIFIER|RP3-370M22.8|ENSG00000225528|transcript|ENST00000424496|sense_intronic||n.*1287C>G|||||4838|,G|downstream_gene_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000478445|processed_transcript||n.*583C>G|||||3412|,G|downstream_gene_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000481263|retained_intron||n.*764C>G|||||825|,G|non_coding_exon_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000460449|retained_intron|1/2|n.147C>G|||||| 22 40366872 . C T . . ANN=T|sequence_feature|LOW|GRAP2|ENSG00000100351|domain:SH3_2|ENST00000399090|protein_coding|5/5|c.475-37C>T||||||,T|sequence_feature|LOW|GRAP2|ENSG00000100351|domain:SH3_2|ENST00000399090|protein_coding|4/5|c.475-37C>T||||||,T|sequence_feature|LOW|GRAP2|ENSG00000100351|domain:SH3_2|ENST00000407075|protein_coding|7/7|c.814-37C>T||||||,T|sequence_feature|LOW|GRAP2|ENSG00000100351|domain:SH3_2|ENST00000407075|protein_coding|6/7|c.814-37C>T||||||,T|downstream_gene_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000478445|processed_transcript||n.*583C>T|||||4759|,T|downstream_gene_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000481263|retained_intron||n.*764C>T|||||2172|,T|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000344138|protein_coding|7/7|c.814-37C>T||||||,T|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000543252|protein_coding|6/7|c.694-37C>T||||||,T|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000540310|protein_coding|4/4|c.616-37C>T||||||,T|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000544756|protein_coding|6/6|c.598-37C>T||||||,T|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000399090|protein_coding|4/4|c.475-37C>T||||||,T|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000407075|protein_coding|6/6|c.814-37C>T||||||,T|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000460449|retained_intron|1/1|n.160-37C>T|||||| 22 40366876 . T C . . ANN=C|sequence_feature|LOW|GRAP2|ENSG00000100351|domain:SH3_2|ENST00000399090|protein_coding|5/5|c.475-33T>C||||||,C|sequence_feature|LOW|GRAP2|ENSG00000100351|domain:SH3_2|ENST00000399090|protein_coding|4/5|c.475-33T>C||||||,C|sequence_feature|LOW|GRAP2|ENSG00000100351|domain:SH3_2|ENST00000407075|protein_coding|7/7|c.814-33T>C||||||,C|sequence_feature|LOW|GRAP2|ENSG00000100351|domain:SH3_2|ENST00000407075|protein_coding|6/7|c.814-33T>C||||||,C|downstream_gene_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000478445|processed_transcript||n.*583T>C|||||4763|,C|downstream_gene_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000481263|retained_intron||n.*764T>C|||||2176|,C|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000344138|protein_coding|7/7|c.814-33T>C||||||,C|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000543252|protein_coding|6/7|c.694-33T>C||||||,C|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000540310|protein_coding|4/4|c.616-33T>C||||||,C|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000544756|protein_coding|6/6|c.598-33T>C||||||,C|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000399090|protein_coding|4/4|c.475-33T>C||||||,C|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000407075|protein_coding|6/6|c.814-33T>C||||||,C|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000460449|retained_intron|1/1|n.160-33T>C|||||| 22 40366914 . G A . . ANN=A|synonymous_variant|LOW|GRAP2|ENSG00000100351|transcript|ENST00000344138|protein_coding|8/8|c.819G>A|p.Val273Val|1082/3893|819/993|273/330||,A|synonymous_variant|LOW|GRAP2|ENSG00000100351|transcript|ENST00000543252|protein_coding|7/8|c.699G>A|p.Val233Val|962/1100|699/837|233/278||,A|synonymous_variant|LOW|GRAP2|ENSG00000100351|transcript|ENST00000540310|protein_coding|5/5|c.621G>A|p.Val207Val|751/1279|621/795|207/264||,A|synonymous_variant|LOW|GRAP2|ENSG00000100351|transcript|ENST00000544756|protein_coding|7/7|c.603G>A|p.Val201Val|989/1425|603/777|201/258||,A|synonymous_variant|LOW|GRAP2|ENSG00000100351|transcript|ENST00000399090|protein_coding|5/5|c.480G>A|p.Val160Val|697/1066|480/654|160/217||,A|synonymous_variant|LOW|GRAP2|ENSG00000100351|transcript|ENST00000407075|protein_coding|7/7|c.819G>A|p.Val273Val|1109/1304|819/993|273/330||,A|sequence_feature|LOW|GRAP2|ENSG00000100351|domain:SH3_2|ENST00000399090|protein_coding|5/5|c.480G>A||||||,A|sequence_feature|LOW|GRAP2|ENSG00000100351|domain:SH3_2|ENST00000399090|protein_coding|4/5|c.480G>A||||||,A|sequence_feature|LOW|GRAP2|ENSG00000100351|domain:SH3_2|ENST00000407075|protein_coding|7/7|c.819G>A||||||,A|sequence_feature|LOW|GRAP2|ENSG00000100351|domain:SH3_2|ENST00000407075|protein_coding|6/7|c.819G>A||||||,A|downstream_gene_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000478445|processed_transcript||n.*583G>A|||||4801|,A|downstream_gene_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000481263|retained_intron||n.*764G>A|||||2214|,A|non_coding_exon_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000460449|retained_intron|2/2|n.165G>A|||||| 22 40366915 . C T . . ANN=T|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000344138|protein_coding|8/8|c.820C>T|p.Arg274Trp|1083/3893|820/993|274/330||,T|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000543252|protein_coding|7/8|c.700C>T|p.Arg234Trp|963/1100|700/837|234/278||,T|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000540310|protein_coding|5/5|c.622C>T|p.Arg208Trp|752/1279|622/795|208/264||,T|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000544756|protein_coding|7/7|c.604C>T|p.Arg202Trp|990/1425|604/777|202/258||,T|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000399090|protein_coding|5/5|c.481C>T|p.Arg161Trp|698/1066|481/654|161/217||,T|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000407075|protein_coding|7/7|c.820C>T|p.Arg274Trp|1110/1304|820/993|274/330||,T|sequence_feature|LOW|GRAP2|ENSG00000100351|domain:SH3_2|ENST00000399090|protein_coding|5/5|c.481C>T||||||,T|sequence_feature|LOW|GRAP2|ENSG00000100351|domain:SH3_2|ENST00000399090|protein_coding|4/5|c.481C>T||||||,T|sequence_feature|LOW|GRAP2|ENSG00000100351|domain:SH3_2|ENST00000407075|protein_coding|7/7|c.820C>T||||||,T|sequence_feature|LOW|GRAP2|ENSG00000100351|domain:SH3_2|ENST00000407075|protein_coding|6/7|c.820C>T||||||,T|downstream_gene_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000478445|processed_transcript||n.*583C>T|||||4802|,T|downstream_gene_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000481263|retained_intron||n.*764C>T|||||2215|,T|non_coding_exon_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000460449|retained_intron|2/2|n.166C>T|||||| 22 40366925 . G A . . ANN=A|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000344138|protein_coding|8/8|c.830G>A|p.Arg277Gln|1093/3893|830/993|277/330||,A|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000543252|protein_coding|7/8|c.710G>A|p.Arg237Gln|973/1100|710/837|237/278||,A|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000540310|protein_coding|5/5|c.632G>A|p.Arg211Gln|762/1279|632/795|211/264||,A|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000544756|protein_coding|7/7|c.614G>A|p.Arg205Gln|1000/1425|614/777|205/258||,A|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000399090|protein_coding|5/5|c.491G>A|p.Arg164Gln|708/1066|491/654|164/217||,A|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000407075|protein_coding|7/7|c.830G>A|p.Arg277Gln|1120/1304|830/993|277/330||,A|sequence_feature|LOW|GRAP2|ENSG00000100351|domain:SH3_2|ENST00000399090|protein_coding|5/5|c.491G>A||||||,A|sequence_feature|LOW|GRAP2|ENSG00000100351|domain:SH3_2|ENST00000399090|protein_coding|4/5|c.491G>A||||||,A|sequence_feature|LOW|GRAP2|ENSG00000100351|domain:SH3_2|ENST00000407075|protein_coding|7/7|c.830G>A||||||,A|sequence_feature|LOW|GRAP2|ENSG00000100351|domain:SH3_2|ENST00000407075|protein_coding|6/7|c.830G>A||||||,A|downstream_gene_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000478445|processed_transcript||n.*583G>A|||||4812|,A|downstream_gene_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000481263|retained_intron||n.*764G>A|||||2225|,A|non_coding_exon_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000460449|retained_intron|2/2|n.176G>A|||||| 22 40366977 . C T . . ANN=T|synonymous_variant|LOW|GRAP2|ENSG00000100351|transcript|ENST00000344138|protein_coding|8/8|c.882C>T|p.Ser294Ser|1145/3893|882/993|294/330||,T|synonymous_variant|LOW|GRAP2|ENSG00000100351|transcript|ENST00000540310|protein_coding|5/5|c.684C>T|p.Ser228Ser|814/1279|684/795|228/264||,T|synonymous_variant|LOW|GRAP2|ENSG00000100351|transcript|ENST00000544756|protein_coding|7/7|c.666C>T|p.Ser222Ser|1052/1425|666/777|222/258||,T|synonymous_variant|LOW|GRAP2|ENSG00000100351|transcript|ENST00000399090|protein_coding|5/5|c.543C>T|p.Ser181Ser|760/1066|543/654|181/217||,T|synonymous_variant|LOW|GRAP2|ENSG00000100351|transcript|ENST00000407075|protein_coding|7/7|c.882C>T|p.Ser294Ser|1172/1304|882/993|294/330||,T|sequence_feature|LOW|GRAP2|ENSG00000100351|domain:SH3_2|ENST00000399090|protein_coding|5/5|c.543C>T||||||,T|sequence_feature|LOW|GRAP2|ENSG00000100351|domain:SH3_2|ENST00000399090|protein_coding|4/5|c.543C>T||||||,T|sequence_feature|LOW|GRAP2|ENSG00000100351|domain:SH3_2|ENST00000407075|protein_coding|7/7|c.882C>T||||||,T|sequence_feature|LOW|GRAP2|ENSG00000100351|domain:SH3_2|ENST00000407075|protein_coding|6/7|c.882C>T||||||,T|downstream_gene_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000478445|processed_transcript||n.*583C>T|||||4864|,T|downstream_gene_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000481263|retained_intron||n.*764C>T|||||2277|,T|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000543252|protein_coding|7/7|c.738-12C>T||||||,T|non_coding_exon_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000460449|retained_intron|2/2|n.228C>T|||||| 22 40367070 . G A . . ANN=A|synonymous_variant|LOW|GRAP2|ENSG00000100351|transcript|ENST00000344138|protein_coding|8/8|c.975G>A|p.Val325Val|1238/3893|975/993|325/330||,A|synonymous_variant|LOW|GRAP2|ENSG00000100351|transcript|ENST00000543252|protein_coding|8/8|c.819G>A|p.Val273Val|1082/1100|819/837|273/278||,A|synonymous_variant|LOW|GRAP2|ENSG00000100351|transcript|ENST00000540310|protein_coding|5/5|c.777G>A|p.Val259Val|907/1279|777/795|259/264||,A|synonymous_variant|LOW|GRAP2|ENSG00000100351|transcript|ENST00000544756|protein_coding|7/7|c.759G>A|p.Val253Val|1145/1425|759/777|253/258||,A|synonymous_variant|LOW|GRAP2|ENSG00000100351|transcript|ENST00000399090|protein_coding|5/5|c.636G>A|p.Val212Val|853/1066|636/654|212/217||,A|synonymous_variant|LOW|GRAP2|ENSG00000100351|transcript|ENST00000407075|protein_coding|7/7|c.975G>A|p.Val325Val|1265/1304|975/993|325/330||,A|sequence_feature|LOW|GRAP2|ENSG00000100351|domain:SH3_2|ENST00000399090|protein_coding|5/5|c.636G>A||||||,A|sequence_feature|LOW|GRAP2|ENSG00000100351|domain:SH3_2|ENST00000399090|protein_coding|4/5|c.636G>A||||||,A|sequence_feature|LOW|GRAP2|ENSG00000100351|domain:SH3_2|ENST00000407075|protein_coding|7/7|c.975G>A||||||,A|sequence_feature|LOW|GRAP2|ENSG00000100351|domain:SH3_2|ENST00000407075|protein_coding|6/7|c.975G>A||||||,A|downstream_gene_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000478445|processed_transcript||n.*583G>A|||||4957|,A|downstream_gene_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000481263|retained_intron||n.*764G>A|||||2370|,A|non_coding_exon_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000460449|retained_intron|2/2|n.321G>A|||||| 22 40367129 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000344138|protein_coding|8/8|c.*41C>T|||||41|,T|3_prime_UTR_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000540310|protein_coding|5/5|c.*41C>T|||||41|,T|3_prime_UTR_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000544756|protein_coding|7/7|c.*41C>T|||||41|,T|3_prime_UTR_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000399090|protein_coding|5/5|c.*41C>T|||||41|,T|downstream_gene_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000543252|protein_coding||c.*1100C>T|||||41|,T|downstream_gene_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000407075|protein_coding||c.*1283C>T|||||20|,T|downstream_gene_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000481263|retained_intron||n.*764C>T|||||2429|,T|non_coding_exon_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000460449|retained_intron|2/2|n.380C>T|||||| 22 40415140 . C T . . ANN=T|intron_variant|MODIFIER|FAM83F|ENSG00000133477|transcript|ENST00000333407|protein_coding|1/4|c.490-32C>T||||||,T|intron_variant|MODIFIER|FAM83F|ENSG00000133477|transcript|ENST00000473717|protein_coding|1/4|c.-15-32C>T|||||| 22 40415141 . G A . . ANN=A|intron_variant|MODIFIER|FAM83F|ENSG00000133477|transcript|ENST00000333407|protein_coding|1/4|c.490-31G>A||||||,A|intron_variant|MODIFIER|FAM83F|ENSG00000133477|transcript|ENST00000473717|protein_coding|1/4|c.-15-31G>A|||||| 22 40415264 . C T . . ANN=T|synonymous_variant|LOW|FAM83F|ENSG00000133477|transcript|ENST00000333407|protein_coding|2/5|c.582C>T|p.Ile194Ile|676/15561|582/1503|194/500||,T|synonymous_variant|LOW|FAM83F|ENSG00000133477|transcript|ENST00000473717|protein_coding|2/5|c.78C>T|p.Ile26Ile|530/1917|78/999|26/332|| 22 40415266 . T A . . ANN=A|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000333407|protein_coding|2/5|c.584T>A|p.Ile195Asn|678/15561|584/1503|195/500||,A|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000473717|protein_coding|2/5|c.80T>A|p.Ile27Asn|532/1917|80/999|27/332|| 22 40415273 . C A,T . . ANN=A|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000333407|protein_coding|2/5|c.591C>A|p.Asp197Glu|685/15561|591/1503|197/500||,A|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000473717|protein_coding|2/5|c.87C>A|p.Asp29Glu|539/1917|87/999|29/332||,T|synonymous_variant|LOW|FAM83F|ENSG00000133477|transcript|ENST00000333407|protein_coding|2/5|c.591C>T|p.Asp197Asp|685/15561|591/1503|197/500||,T|synonymous_variant|LOW|FAM83F|ENSG00000133477|transcript|ENST00000473717|protein_coding|2/5|c.87C>T|p.Asp29Asp|539/1917|87/999|29/332|| 22 40415323 . C T . . ANN=T|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000333407|protein_coding|2/5|c.641C>T|p.Thr214Ile|735/15561|641/1503|214/500||,T|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000473717|protein_coding|2/5|c.137C>T|p.Thr46Ile|589/1917|137/999|46/332|| 22 40415903 . C T . . ANN=T|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000333407|protein_coding|3/5|c.670C>T|p.Arg224Cys|764/15561|670/1503|224/500||,T|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000473717|protein_coding|3/5|c.166C>T|p.Arg56Cys|618/1917|166/999|56/332|| 22 40415968 . G T . . ANN=T|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000333407|protein_coding|3/5|c.735G>T|p.Arg245Ser|829/15561|735/1503|245/500||,T|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000473717|protein_coding|3/5|c.231G>T|p.Arg77Ser|683/1917|231/999|77/332|| 22 40415988 . A G . . ANN=G|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000333407|protein_coding|3/5|c.755A>G|p.Asp252Gly|849/15561|755/1503|252/500||,G|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000473717|protein_coding|3/5|c.251A>G|p.Asp84Gly|703/1917|251/999|84/332|| 22 40416025 . G A . . ANN=A|intron_variant|MODIFIER|FAM83F|ENSG00000133477|transcript|ENST00000333407|protein_coding|3/4|c.779+13G>A||||||,A|intron_variant|MODIFIER|FAM83F|ENSG00000133477|transcript|ENST00000473717|protein_coding|3/4|c.275+13G>A|||||| 22 40416051 . T C . . ANN=C|intron_variant|MODIFIER|FAM83F|ENSG00000133477|transcript|ENST00000333407|protein_coding|3/4|c.779+39T>C||||||,C|intron_variant|MODIFIER|FAM83F|ENSG00000133477|transcript|ENST00000473717|protein_coding|3/4|c.275+39T>C|||||| 22 40417372 . G A . . ANN=A|synonymous_variant|LOW|FAM83F|ENSG00000133477|transcript|ENST00000333407|protein_coding|4/5|c.858G>A|p.Thr286Thr|952/15561|858/1503|286/500||,A|synonymous_variant|LOW|FAM83F|ENSG00000133477|transcript|ENST00000473717|protein_coding|4/5|c.354G>A|p.Thr118Thr|806/1917|354/999|118/332|| 22 40417495 . C T . . ANN=T|synonymous_variant|LOW|FAM83F|ENSG00000133477|transcript|ENST00000333407|protein_coding|4/5|c.981C>T|p.Tyr327Tyr|1075/15561|981/1503|327/500||,T|synonymous_variant|LOW|FAM83F|ENSG00000133477|transcript|ENST00000473717|protein_coding|4/5|c.477C>T|p.Tyr159Tyr|929/1917|477/999|159/332|| 22 40417551 . G A . . ANN=A|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000333407|protein_coding|4/5|c.1037G>A|p.Arg346Gln|1131/15561|1037/1503|346/500||,A|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000473717|protein_coding|4/5|c.533G>A|p.Arg178Gln|985/1917|533/999|178/332|| 22 40417571 . G A . . ANN=A|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000333407|protein_coding|4/5|c.1057G>A|p.Gly353Ser|1151/15561|1057/1503|353/500||,A|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000473717|protein_coding|4/5|c.553G>A|p.Gly185Ser|1005/1917|553/999|185/332|| 22 40417579 . G A . . ANN=A|synonymous_variant|LOW|FAM83F|ENSG00000133477|transcript|ENST00000333407|protein_coding|4/5|c.1065G>A|p.Pro355Pro|1159/15561|1065/1503|355/500||,A|synonymous_variant|LOW|FAM83F|ENSG00000133477|transcript|ENST00000473717|protein_coding|4/5|c.561G>A|p.Pro187Pro|1013/1917|561/999|187/332|| 22 40417604 . G A . . ANN=A|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000333407|protein_coding|4/5|c.1090G>A|p.Gly364Ser|1184/15561|1090/1503|364/500||,A|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000473717|protein_coding|4/5|c.586G>A|p.Gly196Ser|1038/1917|586/999|196/332|| 22 40417780 . C T . . ANN=T|synonymous_variant|LOW|FAM83F|ENSG00000133477|transcript|ENST00000333407|protein_coding|4/5|c.1266C>T|p.Asn422Asn|1360/15561|1266/1503|422/500||,T|synonymous_variant|LOW|FAM83F|ENSG00000133477|transcript|ENST00000473717|protein_coding|4/5|c.762C>T|p.Asn254Asn|1214/1917|762/999|254/332|| 22 40417800 . G C . . ANN=C|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000333407|protein_coding|4/5|c.1286G>C|p.Arg429Pro|1380/15561|1286/1503|429/500||,C|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000473717|protein_coding|4/5|c.782G>C|p.Arg261Pro|1234/1917|782/999|261/332|| 22 40417820 . A G . . ANN=G|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000333407|protein_coding|4/5|c.1306A>G|p.Arg436Gly|1400/15561|1306/1503|436/500||,G|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000473717|protein_coding|4/5|c.802A>G|p.Arg268Gly|1254/1917|802/999|268/332|| 22 40417851 . G A . . ANN=A|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000333407|protein_coding|4/5|c.1337G>A|p.Arg446Gln|1431/15561|1337/1503|446/500||,A|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000473717|protein_coding|4/5|c.833G>A|p.Arg278Gln|1285/1917|833/999|278/332|| 22 40417943 . G A . . ANN=A|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000333407|protein_coding|4/5|c.1429G>A|p.Glu477Lys|1523/15561|1429/1503|477/500||,A|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000473717|protein_coding|4/5|c.925G>A|p.Glu309Lys|1377/1917|925/999|309/332|| 22 40417964 . T C . . ANN=C|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000333407|protein_coding|4/5|c.1450T>C|p.Ser484Pro|1544/15561|1450/1503|484/500||,C|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000473717|protein_coding|4/5|c.946T>C|p.Ser316Pro|1398/1917|946/999|316/332|| 22 40425535 . G A . . ANN=A|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000333407|protein_coding|5/5|c.1469G>A|p.Ser490Asn|1563/15561|1469/1503|490/500||,A|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000473717|protein_coding|5/5|c.965G>A|p.Ser322Asn|1417/1917|965/999|322/332|| 22 40425594 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|FAM83F|ENSG00000133477|transcript|ENST00000333407|protein_coding|5/5|c.*25C>T|||||25|,T|3_prime_UTR_variant|MODIFIER|FAM83F|ENSG00000133477|transcript|ENST00000473717|protein_coding|5/5|c.*25C>T|||||25| 22 40552078 . A T . . ANN=T|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000441751|protein_coding|3/3|c.46-41A>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|3/23|c.46-41A>T||||||,T|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|3/23|c.46-41A>T|||||| 22 40552117 . A G . . ANN=G|splice_acceptor_variant&intron_variant|HIGH|TNRC6B|ENSG00000100354|transcript|ENST00000441751|protein_coding|3/3|c.46-2A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|splice_acceptor_variant&intron_variant|HIGH|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|3/23|c.46-2A>G||||||,G|splice_acceptor_variant&intron_variant|HIGH|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|3/23|c.46-2A>G||||||;LOF=(TNRC6B|ENSG00000100354|9|0.33) 22 40552119 . G A . . ANN=A|missense_variant&splice_region_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000441751|protein_coding|4/4|c.46G>A|p.Val16Met|348/415|46/113|16/36||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant&splice_region_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|4/24|c.46G>A|p.Val16Met|348/15958|46/3090|16/1029||,A|missense_variant&splice_region_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|4/24|c.46G>A|p.Val16Met|281/3444|46/3090|16/1029|| 22 40552234 . A T . . ANN=T|downstream_gene_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000441751|protein_coding||c.*415A>T|||||48|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|4/23|c.113+48A>T||||||,T|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|4/23|c.113+48A>T|||||| 22 40574097 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|1/23|c.-43C>T|||||43|,T|5_prime_UTR_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|1/21|c.-43C>T|||||43|,T|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|4/23|c.113+21911C>T||||||,T|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|4/23|c.113+21911C>T||||||,T|non_coding_exon_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000489500|retained_intron|1/2|n.169C>T|||||| 22 40574170 . T A . . ANN=A|sequence_feature|LOW|TNRC6B|ENSG00000100354|coiled-coil_region|ENST00000454349|protein_coding|4/23|c.5+26T>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|coiled-coil_region|ENST00000454349|protein_coding|2/23|c.5+26T>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|coiled-coil_region|ENST00000454349|protein_coding|3/23|c.5+26T>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|coiled-coil_region|ENST00000454349|protein_coding|1/23|c.5+26T>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|5/23|c.5+26T>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|6/23|c.5+26T>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|4/23|c.5+26T>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|2/23|c.5+26T>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|3/23|c.5+26T>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|7/23|c.5+26T>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|1/23|c.5+26T>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|coiled-coil_region|ENST00000335727|protein_coding|4/21|c.5+26T>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|coiled-coil_region|ENST00000335727|protein_coding|2/21|c.5+26T>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|coiled-coil_region|ENST00000335727|protein_coding|3/21|c.5+26T>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|coiled-coil_region|ENST00000335727|protein_coding|1/21|c.5+26T>A||||||,A|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|1/22|c.5+26T>A||||||,A|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|4/23|c.113+21984T>A||||||,A|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|4/23|c.113+21984T>A||||||,A|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000489500|retained_intron|1/1|n.216+26T>A||||||,A|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|1/20|c.5+26T>A|||||| 22 40574176 . A G . . ANN=G|sequence_feature|LOW|TNRC6B|ENSG00000100354|coiled-coil_region|ENST00000454349|protein_coding|4/23|c.5+32A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|coiled-coil_region|ENST00000454349|protein_coding|2/23|c.5+32A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|coiled-coil_region|ENST00000454349|protein_coding|3/23|c.5+32A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|coiled-coil_region|ENST00000454349|protein_coding|1/23|c.5+32A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|5/23|c.5+32A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|6/23|c.5+32A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|4/23|c.5+32A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|2/23|c.5+32A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|3/23|c.5+32A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|7/23|c.5+32A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|1/23|c.5+32A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|coiled-coil_region|ENST00000335727|protein_coding|4/21|c.5+32A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|coiled-coil_region|ENST00000335727|protein_coding|2/21|c.5+32A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|coiled-coil_region|ENST00000335727|protein_coding|3/21|c.5+32A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|coiled-coil_region|ENST00000335727|protein_coding|1/21|c.5+32A>G||||||,G|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|1/22|c.5+32A>G||||||,G|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|4/23|c.113+21990A>G||||||,G|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|4/23|c.113+21990A>G||||||,G|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000489500|retained_intron|1/1|n.216+32A>G||||||,G|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|1/20|c.5+32A>G|||||| 22 40647167 . T C . . ANN=C|sequence_feature|LOW|TNRC6B|ENSG00000100354|coiled-coil_region|ENST00000454349|protein_coding|4/23|c.94-16T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|coiled-coil_region|ENST00000454349|protein_coding|2/23|c.94-16T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|coiled-coil_region|ENST00000454349|protein_coding|3/23|c.94-16T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|coiled-coil_region|ENST00000454349|protein_coding|1/23|c.94-16T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|5/23|c.94-16T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|6/23|c.94-16T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|4/23|c.94-16T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|2/23|c.94-16T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|3/23|c.94-16T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|7/23|c.94-16T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|1/23|c.94-16T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|coiled-coil_region|ENST00000335727|protein_coding|4/21|c.94-16T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|coiled-coil_region|ENST00000335727|protein_coding|2/21|c.94-16T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|coiled-coil_region|ENST00000335727|protein_coding|3/21|c.94-16T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|coiled-coil_region|ENST00000335727|protein_coding|1/21|c.94-16T>C||||||,C|downstream_gene_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000489500|retained_intron||n.*564T>C|||||4801|,C|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|2/22|c.94-16T>C||||||,C|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|5/23|c.202-16T>C||||||,C|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|5/23|c.202-16T>C||||||,C|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|2/20|c.94-16T>C|||||| 22 40657807 . A G . . ANN=G|sequence_feature|LOW|TNRC6B|ENSG00000100354|coiled-coil_region|ENST00000454349|protein_coding|4/23|c.116-29A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|coiled-coil_region|ENST00000454349|protein_coding|2/23|c.116-29A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|coiled-coil_region|ENST00000454349|protein_coding|3/23|c.116-29A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|coiled-coil_region|ENST00000454349|protein_coding|1/23|c.116-29A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|5/23|c.116-29A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|6/23|c.116-29A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|4/23|c.116-29A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|2/23|c.116-29A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|3/23|c.116-29A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|7/23|c.116-29A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|1/23|c.116-29A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|coiled-coil_region|ENST00000335727|protein_coding|4/21|c.116-29A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|coiled-coil_region|ENST00000335727|protein_coding|2/21|c.116-29A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|coiled-coil_region|ENST00000335727|protein_coding|3/21|c.116-29A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|coiled-coil_region|ENST00000335727|protein_coding|1/21|c.116-29A>G||||||,G|upstream_gene_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding||c.-3A>G|||||3200|WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|3/22|c.116-29A>G||||||,G|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|6/23|c.224-29A>G||||||,G|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|6/23|c.224-29A>G||||||,G|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|3/20|c.116-29A>G|||||| 22 40657967 . G A . . ANN=A|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|4/23|c.247G>A|p.Ala83Thr|458/18279|247/5502|83/1833||,A|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|7/24|c.355G>A|p.Ala119Thr|657/15958|355/3090|119/1029||,A|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|7/24|c.355G>A|p.Ala119Thr|590/3444|355/3090|119/1029||,A|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|4/21|c.247G>A|p.Ala83Thr|441/17933|247/5172|83/1723||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|5/23|c.247G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|6/23|c.247G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|4/23|c.247G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|2/23|c.247G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|3/23|c.247G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|7/23|c.247G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|1/23|c.247G>A||||||,A|upstream_gene_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding||c.-3G>A|||||3040|WARNING_TRANSCRIPT_NO_START_CODON 22 40658117 . A G . . ANN=G|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|4/23|c.397A>G|p.Asn133Asp|608/18279|397/5502|133/1833||,G|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|7/24|c.505A>G|p.Asn169Asp|807/15958|505/3090|169/1029||,G|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|7/24|c.505A>G|p.Asn169Asp|740/3444|505/3090|169/1029||,G|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|4/21|c.397A>G|p.Asn133Asp|591/17933|397/5172|133/1723||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|5/23|c.397A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|6/23|c.397A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|4/23|c.397A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|2/23|c.397A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|3/23|c.397A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|7/23|c.397A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|1/23|c.397A>G||||||,G|upstream_gene_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding||c.-3A>G|||||2890|WARNING_TRANSCRIPT_NO_START_CODON 22 40658145 . C T . . ANN=T|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|4/23|c.425C>T|p.Ala142Val|636/18279|425/5502|142/1833||,T|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|7/24|c.533C>T|p.Ala178Val|835/15958|533/3090|178/1029||,T|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|7/24|c.533C>T|p.Ala178Val|768/3444|533/3090|178/1029||,T|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|4/21|c.425C>T|p.Ala142Val|619/17933|425/5172|142/1723||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|5/23|c.425C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|6/23|c.425C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|4/23|c.425C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|2/23|c.425C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|3/23|c.425C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|7/23|c.425C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|1/23|c.425C>T||||||,T|upstream_gene_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding||c.-3C>T|||||2862|WARNING_TRANSCRIPT_NO_START_CODON 22 40660813 . C T . . ANN=T|synonymous_variant|LOW|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|5/23|c.579C>T|p.Asp193Asp|790/18279|579/5502|193/1833||,T|synonymous_variant|LOW|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|5/21|c.579C>T|p.Asp193Asp|773/17933|579/5172|193/1723||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|5/23|c.579C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|6/23|c.579C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|4/23|c.579C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|2/23|c.579C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|3/23|c.579C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|7/23|c.579C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|1/23|c.579C>T||||||,T|upstream_gene_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding||c.-3C>T|||||194|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|7/23|c.565+2636C>T||||||,T|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|7/23|c.565+2636C>T|||||| 22 40660856 . A G . . ANN=G|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|5/23|c.622A>G|p.Thr208Ala|833/18279|622/5502|208/1833||,G|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|5/21|c.622A>G|p.Thr208Ala|816/17933|622/5172|208/1723||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|5/23|c.622A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|6/23|c.622A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|4/23|c.622A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|2/23|c.622A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|3/23|c.622A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|7/23|c.622A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|1/23|c.622A>G||||||,G|upstream_gene_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding||c.-3A>G|||||151|WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|7/23|c.565+2679A>G||||||,G|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|7/23|c.565+2679A>G|||||| 22 40660900 . G T . . ANN=T|synonymous_variant|LOW|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|5/23|c.666G>T|p.Ser222Ser|877/18279|666/5502|222/1833||,T|synonymous_variant|LOW|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|5/21|c.666G>T|p.Ser222Ser|860/17933|666/5172|222/1723||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|5/23|c.666G>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|6/23|c.666G>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|4/23|c.666G>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|2/23|c.666G>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|3/23|c.666G>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|7/23|c.666G>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|1/23|c.666G>T||||||,T|upstream_gene_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding||c.-3G>T|||||107|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|7/23|c.565+2723G>T||||||,T|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|7/23|c.565+2723G>T|||||| 22 40661041 . A G . . ANN=G|synonymous_variant|LOW|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|5/23|c.807A>G|p.Gln269Gln|1018/18279|807/5502|269/1833||,G|synonymous_variant|LOW|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|5/21|c.807A>G|p.Gln269Gln|1001/17933|807/5172|269/1723||,G|synonymous_variant|LOW|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding|1/17|c.33A>G|p.Gln11Gln|35/4741|33/4173|11/1390||WARNING_TRANSCRIPT_NO_START_CODON,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|5/23|c.807A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|6/23|c.807A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|4/23|c.807A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|2/23|c.807A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|3/23|c.807A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|7/23|c.807A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|1/23|c.807A>G||||||,G|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|7/23|c.565+2864A>G||||||,G|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|7/23|c.565+2864A>G|||||| 22 40661112 . T C . . ANN=C|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|5/23|c.878T>C|p.Ile293Thr|1089/18279|878/5502|293/1833||,C|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|5/21|c.878T>C|p.Ile293Thr|1072/17933|878/5172|293/1723||,C|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding|1/17|c.104T>C|p.Ile35Thr|106/4741|104/4173|35/1390||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|5/23|c.878T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|6/23|c.878T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|4/23|c.878T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|2/23|c.878T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|3/23|c.878T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|7/23|c.878T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|1/23|c.878T>C||||||,C|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|7/23|c.565+2935T>C||||||,C|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|7/23|c.565+2935T>C|||||| 22 40661149 . T C . . ANN=C|synonymous_variant|LOW|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|5/23|c.915T>C|p.Asn305Asn|1126/18279|915/5502|305/1833||,C|synonymous_variant|LOW|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|5/21|c.915T>C|p.Asn305Asn|1109/17933|915/5172|305/1723||,C|synonymous_variant|LOW|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding|1/17|c.141T>C|p.Asn47Asn|143/4741|141/4173|47/1390||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|5/23|c.915T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|6/23|c.915T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|4/23|c.915T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|2/23|c.915T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|3/23|c.915T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|7/23|c.915T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|1/23|c.915T>C||||||,C|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|7/23|c.565+2972T>C||||||,C|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|7/23|c.565+2972T>C|||||| 22 40661502 . G T . . ANN=T|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|5/23|c.1268G>T|p.Gly423Val|1479/18279|1268/5502|423/1833||,T|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|5/21|c.1268G>T|p.Gly423Val|1462/17933|1268/5172|423/1723||,T|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding|1/17|c.494G>T|p.Gly165Val|496/4741|494/4173|165/1390||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|5/23|c.1268G>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|6/23|c.1268G>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|4/23|c.1268G>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|2/23|c.1268G>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|3/23|c.1268G>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|7/23|c.1268G>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|1/23|c.1268G>T||||||,T|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|7/23|c.565+3325G>T||||||,T|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|7/23|c.565+3325G>T|||||| 22 40661522 . G A . . ANN=A|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|5/23|c.1288G>A|p.Gly430Arg|1499/18279|1288/5502|430/1833||,A|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|5/21|c.1288G>A|p.Gly430Arg|1482/17933|1288/5172|430/1723||,A|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding|1/17|c.514G>A|p.Gly172Arg|516/4741|514/4173|172/1390||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|5/23|c.1288G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|6/23|c.1288G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|4/23|c.1288G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|2/23|c.1288G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|3/23|c.1288G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|7/23|c.1288G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|1/23|c.1288G>A||||||,A|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|7/23|c.565+3345G>A||||||,A|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|7/23|c.565+3345G>A|||||| 22 40661566 . A C . . ANN=C|synonymous_variant|LOW|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|5/23|c.1332A>C|p.Gly444Gly|1543/18279|1332/5502|444/1833||,C|synonymous_variant|LOW|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|5/21|c.1332A>C|p.Gly444Gly|1526/17933|1332/5172|444/1723||,C|synonymous_variant|LOW|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding|1/17|c.558A>C|p.Gly186Gly|560/4741|558/4173|186/1390||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|5/23|c.1332A>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|6/23|c.1332A>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|4/23|c.1332A>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|2/23|c.1332A>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|3/23|c.1332A>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|7/23|c.1332A>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|1/23|c.1332A>C||||||,C|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|7/23|c.565+3389A>C||||||,C|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|7/23|c.565+3389A>C|||||| 22 40661729 . G C . . ANN=C|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|5/23|c.1495G>C|p.Gly499Arg|1706/18279|1495/5502|499/1833||,C|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|5/21|c.1495G>C|p.Gly499Arg|1689/17933|1495/5172|499/1723||,C|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding|1/17|c.721G>C|p.Gly241Arg|723/4741|721/4173|241/1390||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|5/23|c.1495G>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|6/23|c.1495G>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|4/23|c.1495G>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|2/23|c.1495G>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|3/23|c.1495G>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|7/23|c.1495G>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|1/23|c.1495G>C||||||,C|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|7/23|c.565+3552G>C||||||,C|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|7/23|c.565+3552G>C|||||| 22 40661738 . A G . . ANN=G|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|5/23|c.1504A>G|p.Met502Val|1715/18279|1504/5502|502/1833||,G|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|5/21|c.1504A>G|p.Met502Val|1698/17933|1504/5172|502/1723||,G|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding|1/17|c.730A>G|p.Met244Val|732/4741|730/4173|244/1390||WARNING_TRANSCRIPT_NO_START_CODON,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|5/23|c.1504A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|6/23|c.1504A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|4/23|c.1504A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|2/23|c.1504A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|3/23|c.1504A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|7/23|c.1504A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|1/23|c.1504A>G||||||,G|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|7/23|c.565+3561A>G||||||,G|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|7/23|c.565+3561A>G|||||| 22 40662358 . C T . . ANN=T|synonymous_variant|LOW|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|5/23|c.2124C>T|p.Asn708Asn|2335/18279|2124/5502|708/1833||,T|synonymous_variant|LOW|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|5/21|c.2124C>T|p.Asn708Asn|2318/17933|2124/5172|708/1723||,T|synonymous_variant|LOW|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding|1/17|c.1350C>T|p.Asn450Asn|1352/4741|1350/4173|450/1390||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|5/23|c.2124C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|6/23|c.2124C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|4/23|c.2124C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|2/23|c.2124C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|3/23|c.2124C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|7/23|c.2124C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|1/23|c.2124C>T||||||,T|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|7/23|c.566-3768C>T||||||,T|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|7/23|c.566-3768C>T|||||| 22 40662585 . G T . . ANN=T|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|5/23|c.2351G>T|p.Gly784Val|2562/18279|2351/5502|784/1833||,T|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|5/21|c.2351G>T|p.Gly784Val|2545/17933|2351/5172|784/1723||,T|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding|1/17|c.1577G>T|p.Gly526Val|1579/4741|1577/4173|526/1390||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|5/23|c.2351G>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|6/23|c.2351G>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|4/23|c.2351G>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|2/23|c.2351G>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|3/23|c.2351G>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|7/23|c.2351G>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|1/23|c.2351G>T||||||,T|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|7/23|c.566-3541G>T||||||,T|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|7/23|c.566-3541G>T|||||| 22 40662843 . A C . . ANN=C|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|5/23|c.2609A>C|p.Glu870Ala|2820/18279|2609/5502|870/1833||,C|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|5/21|c.2609A>C|p.Glu870Ala|2803/17933|2609/5172|870/1723||,C|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding|1/17|c.1835A>C|p.Glu612Ala|1837/4741|1835/4173|612/1390||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|5/23|c.2609A>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|6/23|c.2609A>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|4/23|c.2609A>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|2/23|c.2609A>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|3/23|c.2609A>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|7/23|c.2609A>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|1/23|c.2609A>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|compositionally_biased_region:Pro-rich|ENST00000454349|protein_coding|5/23|c.2609A>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|compositionally_biased_region:Pro-rich|ENST00000335727|protein_coding|5/21|c.2609A>C||||||,C|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|7/23|c.566-3283A>C||||||,C|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|7/23|c.566-3283A>C|||||| 22 40662940 . T C . . ANN=C|synonymous_variant|LOW|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|5/23|c.2706T>C|p.Tyr902Tyr|2917/18279|2706/5502|902/1833||,C|synonymous_variant|LOW|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|5/21|c.2706T>C|p.Tyr902Tyr|2900/17933|2706/5172|902/1723||,C|synonymous_variant|LOW|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding|1/17|c.1932T>C|p.Tyr644Tyr|1934/4741|1932/4173|644/1390||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|5/23|c.2706T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|6/23|c.2706T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|4/23|c.2706T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|2/23|c.2706T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|3/23|c.2706T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|7/23|c.2706T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|1/23|c.2706T>C||||||,C|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|7/23|c.566-3186T>C||||||,C|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|7/23|c.566-3186T>C|||||| 22 40662984 . G C . . ANN=C|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|5/23|c.2750G>C|p.Gly917Ala|2961/18279|2750/5502|917/1833||,C|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|5/21|c.2750G>C|p.Gly917Ala|2944/17933|2750/5172|917/1723||,C|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding|1/17|c.1976G>C|p.Gly659Ala|1978/4741|1976/4173|659/1390||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|5/23|c.2750G>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|6/23|c.2750G>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|4/23|c.2750G>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|2/23|c.2750G>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|3/23|c.2750G>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|7/23|c.2750G>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|1/23|c.2750G>C||||||,C|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|7/23|c.566-3142G>C||||||,C|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|7/23|c.566-3142G>C|||||| 22 40666230 . T C . . ANN=C|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|6/23|c.2911T>C|p.Ser971Pro|3122/18279|2911/5502|971/1833||,C|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|8/24|c.670T>C|p.Ser224Pro|972/15958|670/3090|224/1029||,C|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|8/24|c.670T>C|p.Ser224Pro|905/3444|670/3090|224/1029||,C|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding|2/17|c.2137T>C|p.Ser713Pro|2139/4741|2137/4173|713/1390||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|5/23|c.2911T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|6/23|c.2911T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|4/23|c.2911T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|2/23|c.2911T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|3/23|c.2911T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|7/23|c.2911T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|1/23|c.2911T>C||||||,C|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|5/20|c.2806+3190T>C|||||| 22 40669393 . G C . . ANN=C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|5/23|c.2966-36G>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|6/23|c.2966-36G>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|4/23|c.2966-36G>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|2/23|c.2966-36G>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|3/23|c.2966-36G>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|7/23|c.2966-36G>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|1/23|c.2966-36G>C||||||,C|upstream_gene_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000497559|processed_transcript||n.-1G>C|||||3451|,C|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|6/22|c.2966-36G>C||||||,C|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|8/23|c.725-36G>C||||||,C|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|8/23|c.725-36G>C||||||,C|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|5/20|c.2807-36G>C||||||,C|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding|2/16|c.2192-36G>C||||||WARNING_TRANSCRIPT_NO_START_CODON 22 40669456 . G A . . ANN=A|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|7/23|c.2993G>A|p.Gly998Glu|3204/18279|2993/5502|998/1833||,A|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|9/24|c.752G>A|p.Gly251Glu|1054/15958|752/3090|251/1029||,A|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|9/24|c.752G>A|p.Gly251Glu|987/3444|752/3090|251/1029||,A|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|6/21|c.2834G>A|p.Gly945Glu|3028/17933|2834/5172|945/1723||,A|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding|3/17|c.2219G>A|p.Gly740Glu|2221/4741|2219/4173|740/1390||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000497559|processed_transcript||n.-1G>A|||||3388| 22 40669482 . G A . . ANN=A|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|7/23|c.3019G>A|p.Ala1007Thr|3230/18279|3019/5502|1007/1833||,A|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|9/24|c.778G>A|p.Ala260Thr|1080/15958|778/3090|260/1029||,A|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|9/24|c.778G>A|p.Ala260Thr|1013/3444|778/3090|260/1029||,A|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|6/21|c.2860G>A|p.Ala954Thr|3054/17933|2860/5172|954/1723||,A|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding|3/17|c.2245G>A|p.Ala749Thr|2247/4741|2245/4173|749/1390||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000497559|processed_transcript||n.-1G>A|||||3362| 22 40669648 . A G . . ANN=G|upstream_gene_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000497559|processed_transcript||n.-1A>G|||||3196|,G|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|7/22|c.3141+44A>G||||||,G|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|9/23|c.900+44A>G||||||,G|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|9/23|c.900+44A>G||||||,G|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|6/20|c.2982+44A>G||||||,G|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding|3/16|c.2367+44A>G||||||WARNING_TRANSCRIPT_NO_START_CODON 22 40673035 . T C . . ANN=C|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|7/22|c.3142-46T>C||||||,C|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|9/23|c.901-46T>C||||||,C|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|9/23|c.901-46T>C||||||,C|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|6/20|c.2983-46T>C||||||,C|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding|3/16|c.2368-46T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000497559|processed_transcript|1/5|n.143-46T>C|||||| 22 40673999 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|8/22|c.3217-4C>T||||||,T|splice_region_variant&intron_variant|LOW|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|10/23|c.976-4C>T||||||,T|splice_region_variant&intron_variant|LOW|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|10/23|c.976-4C>T||||||,T|splice_region_variant&intron_variant|LOW|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|7/20|c.3058-4C>T||||||,T|splice_region_variant&intron_variant|LOW|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding|4/16|c.2443-4C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|splice_region_variant&intron_variant|LOW|TNRC6B|ENSG00000100354|transcript|ENST00000497559|processed_transcript|2/5|n.218-4C>T|||||| 22 40674062 . C T . . ANN=T|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|9/22|c.3262+14C>T||||||,T|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|11/23|c.1021+14C>T||||||,T|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|11/23|c.1021+14C>T||||||,T|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|8/20|c.3103+14C>T||||||,T|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding|5/16|c.2488+14C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000497559|processed_transcript|3/5|n.263+14C>T|||||| 22 40675957 . A G . . ANN=G|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|9/22|c.3263-42A>G||||||,G|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|11/23|c.1022-42A>G||||||,G|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|11/23|c.1022-42A>G||||||,G|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|8/20|c.3104-42A>G||||||,G|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding|5/16|c.2489-42A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000497559|processed_transcript|3/5|n.264-42A>G|||||| 22 40676092 . G A . . ANN=A|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|10/23|c.3356G>A|p.Arg1119His|3567/18279|3356/5502|1119/1833||,A|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|12/24|c.1115G>A|p.Arg372His|1417/15958|1115/3090|372/1029||,A|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|12/24|c.1115G>A|p.Arg372His|1350/3444|1115/3090|372/1029||,A|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|9/21|c.3197G>A|p.Arg1066His|3391/17933|3197/5172|1066/1723||,A|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding|6/17|c.2582G>A|p.Arg861His|2584/4741|2582/4173|861/1390||WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000497559|processed_transcript|4/6|n.357G>A|||||| 22 40676184 . A G . . ANN=G|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|10/22|c.3411+37A>G||||||,G|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|12/23|c.1170+37A>G||||||,G|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|12/23|c.1170+37A>G||||||,G|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|9/20|c.3252+37A>G||||||,G|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding|6/16|c.2637+37A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000497559|processed_transcript|4/5|n.412+37A>G|||||| 22 40681601 . ATTTTC A . . ANN=|sequence_feature|LOW|TNRC6B|ENSG00000100354|compositionally_biased_region:Gln-rich|ENST00000454349|protein_coding|12/23|c.3583-47_3583-43delTTTTC||||||,|sequence_feature|LOW|TNRC6B|ENSG00000100354|compositionally_biased_region:Gln-rich|ENST00000454349|protein_coding|11/23|c.3583-47_3583-43delTTTTC||||||,|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|11/22|c.3583-45_3583-41delTTCTT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|12/23|c.1171-45_1171-41delTTCTT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|12/23|c.1171-45_1171-41delTTCTT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|9/20|c.3253-45_3253-41delTTCTT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding|6/16|c.2638-45_2638-41delTTCTT||||||WARNING_TRANSCRIPT_NO_START_CODON&INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000497559|processed_transcript|4/5|n.413-45_413-41delTTCTT||||||INFO_REALIGN_3_PRIME 22 40681788 . C T . . ANN=T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|21/23|c.3708+14C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|19/23|c.3708+14C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|14/23|c.3708+14C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|22/23|c.3708+14C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|12/23|c.3708+14C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|23/23|c.3708+14C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|13/23|c.3708+14C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|16/23|c.3708+14C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|17/23|c.3708+14C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|20/23|c.3708+14C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|18/23|c.3708+14C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|15/23|c.3708+14C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|24/24|c.1296+14C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|22/24|c.1296+14C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|20/24|c.1296+14C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|15/24|c.1296+14C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|23/24|c.1296+14C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|13/24|c.1296+14C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|14/24|c.1296+14C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|17/24|c.1296+14C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|18/24|c.1296+14C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|21/24|c.1296+14C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|19/24|c.1296+14C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|16/24|c.1296+14C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|19/21|c.3378+14C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|17/21|c.3378+14C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|12/21|c.3378+14C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|20/21|c.3378+14C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|10/21|c.3378+14C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|11/21|c.3378+14C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|14/21|c.3378+14C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|21/21|c.3378+14C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|15/21|c.3378+14C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|18/21|c.3378+14C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|16/21|c.3378+14C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|13/21|c.3378+14C>T||||||,T|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|12/22|c.3708+14C>T||||||,T|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|13/23|c.1296+14C>T||||||,T|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|13/23|c.1296+14C>T||||||,T|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|10/20|c.3378+14C>T||||||,T|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding|7/16|c.2763+14C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000497559|processed_transcript|5/5|n.538+14C>T|||||| 22 40696605 . T G . . 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FIER|TNRC6B|ENSG00000100354|transcript|ENST00000467658|retained_intron||n.-1T>G|||||255|,G|downstream_gene_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000497559|processed_transcript||n.*582T>G|||||103|,G|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|13/22|c.3840+15T>G||||||,G|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|14/23|c.1428+15T>G||||||,G|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|14/23|c.1428+15T>G||||||,G|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|11/20|c.3510+15T>G||||||,G|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding|8/16|c.2895+15T>G||||||WARNING_TRANSCRIPT_NO_START_CODON 22 40696612 . TG T . . ANN=|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|21/23|c.3840+23delG||||||,|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|19/23|c.3840+23delG||||||,|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|14/23|c.3840+23delG||||||,|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|22/23|c.3840+23delG||||||,|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|12/23|c.3840+23delG||||||,|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|23/23|c.3840+23delG||||||,|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|13/23|c.3840+23delG||||||,|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|16/23|c.3840+23delG||||||,|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|17/23|c.3840+23delG||||||,|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|20/23|c.3840+23delG||||||,|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|18/23|c.3840+23delG||||||,|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|15/23|c.3840+23delG||||||,|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|24/24|c.1428+23delG||||||,|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|22/24|c.1428+23delG||||||,|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|20/24|c.1428+23delG||||||,|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|15/24|c.1428+23delG||||||,|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|23/24|c.1428+23delG||||||,|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|13/24|c.1428+23delG||||||,|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|14/24|c.1428+23delG||||||,|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|17/24|c.1428+23delG||||||,|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|18/24|c.1428+23delG||||||,|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|21/24|c.1428+23delG||||||,|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|19/24|c.1428+23delG||||||,|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|16/24|c.1428+23delG||||||,|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|19/21|c.3510+23delG||||||,|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|17/21|c.3510+23delG||||||,|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|12/21|c.3510+23delG||||||,|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|20/21|c.3510+23delG||||||,|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|10/21|c.3510+23delG||||||,|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|11/21|c.3510+23delG||||||,|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|14/21|c.3510+23delG||||||,|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|21/21|c.3510+23delG||||||,|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|15/21|c.3510+23delG||||||,|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|18/21|c.3510+23delG||||||,|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|16/21|c.3510+23delG||||||,|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|13/21|c.3510+23delG||||||,|upstream_gene_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000467658|retained_intron||n.-1delG|||||247|,|downstream_gene_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000497559|processed_transcript||n.*582delG|||||111|,|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|13/22|c.3840+23delG||||||,|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|14/23|c.1428+23delG||||||,|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|14/23|c.1428+23delG||||||,|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|11/20|c.3510+23delG||||||,|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding|8/16|c.2895+23delG||||||WARNING_TRANSCRIPT_NO_START_CODON 22 40696633 . CT C,CTT . . 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22 40696881 . T A . . 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DIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000497559|processed_transcript||n.*582T>A|||||379|,A|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|13/22|c.3841-33T>A||||||,A|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|14/23|c.1429-33T>A||||||,A|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|14/23|c.1429-33T>A||||||,A|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|11/20|c.3511-33T>A||||||,A|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding|8/16|c.2896-33T>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000467658|retained_intron|1/2|n.22T>A|||||| 22 40697377 . A G . . 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DIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000497559|processed_transcript||n.*582A>G|||||875|,G|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|15/22|c.4120+40A>G||||||,G|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|16/23|c.1708+40A>G||||||,G|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|16/23|c.1708+40A>G||||||,G|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|13/20|c.3790+40A>G||||||,G|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding|10/16|c.3175+40A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,G|non_coding_exon_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000467658|retained_intron|2/2|n.374A>G|||||| 22 40704537 . A T . . ANN=T|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|16/23|c.4142A>T|p.Asp1381Val|4353/18279|4142/5502|1381/1833||,T|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|17/24|c.1730A>T|p.Asp577Val|2032/15958|1730/3090|577/1029||,T|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|17/24|c.1730A>T|p.Asp577Val|1965/3444|1730/3090|577/1029||,T|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|14/21|c.3812A>T|p.Asp1271Val|4006/17933|3812/5172|1271/1723||,T|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding|11/17|c.3197A>T|p.Asp1066Val|3199/4741|3197/4173|1066/1390||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|21/23|c.4142A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|19/23|c.4142A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|14/23|c.4142A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|22/23|c.4142A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|12/23|c.4142A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|23/23|c.4142A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|13/23|c.4142A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|16/23|c.4142A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|17/23|c.4142A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|20/23|c.4142A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|18/23|c.4142A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|15/23|c.4142A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|24/24|c.1730A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|22/24|c.1730A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|20/24|c.1730A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|15/24|c.1730A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|23/24|c.1730A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|13/24|c.1730A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|14/24|c.1730A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|17/24|c.1730A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|18/24|c.1730A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|21/24|c.1730A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|19/24|c.1730A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|16/24|c.1730A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|19/21|c.3812A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|17/21|c.3812A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|12/21|c.3812A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|20/21|c.3812A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|10/21|c.3812A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|11/21|c.3812A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|14/21|c.3812A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|21/21|c.3812A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|15/21|c.3812A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|18/21|c.3812A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|16/21|c.3812A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|13/21|c.3812A>T|||||| 22 40704692 . G C . . 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RC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|16/22|c.4258+39G>C||||||,C|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|17/23|c.1846+39G>C||||||,C|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|17/23|c.1846+39G>C||||||,C|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|14/20|c.3928+39G>C||||||,C|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding|11/16|c.3313+39G>C||||||WARNING_TRANSCRIPT_NO_START_CODON 22 40704697 . T G . . ANN=G|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|21/23|c.4258+44T>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|19/23|c.4258+44T>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|14/23|c.4258+44T>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|22/23|c.4258+44T>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|12/23|c.4258+44T>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|23/23|c.4258+44T>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|13/23|c.4258+44T>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|16/23|c.4258+44T>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|17/23|c.4258+44T>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|20/23|c.4258+44T>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|18/23|c.4258+44T>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|15/23|c.4258+44T>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|24/24|c.1846+44T>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|22/24|c.1846+44T>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|20/24|c.1846+44T>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|15/24|c.1846+44T>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|23/24|c.1846+44T>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|13/24|c.1846+44T>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|14/24|c.1846+44T>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|17/24|c.1846+44T>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|18/24|c.1846+44T>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|21/24|c.1846+44T>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|19/24|c.1846+44T>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|16/24|c.1846+44T>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|19/21|c.3928+44T>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|17/21|c.3928+44T>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|12/21|c.3928+44T>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|20/21|c.3928+44T>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|10/21|c.3928+44T>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|11/21|c.3928+44T>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|14/21|c.3928+44T>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|21/21|c.3928+44T>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|15/21|c.3928+44T>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|18/21|c.3928+44T>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|16/21|c.3928+44T>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|13/21|c.3928+44T>G||||||,G|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|16/22|c.4258+44T>G||||||,G|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|17/23|c.1846+44T>G||||||,G|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|17/23|c.1846+44T>G||||||,G|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|14/20|c.3928+44T>G||||||,G|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding|11/16|c.3313+44T>G||||||WARNING_TRANSCRIPT_NO_START_CODON 22 40706978 . C T . . ANN=T|synonymous_variant|LOW|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|17/23|c.4416C>T|p.Ser1472Ser|4627/18279|4416/5502|1472/1833||,T|synonymous_variant|LOW|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|18/24|c.2004C>T|p.Ser668Ser|2306/15958|2004/3090|668/1029||,T|synonymous_variant|LOW|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|18/24|c.2004C>T|p.Ser668Ser|2239/3444|2004/3090|668/1029||,T|synonymous_variant|LOW|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|15/21|c.4086C>T|p.Ser1362Ser|4280/17933|4086/5172|1362/1723||,T|synonymous_variant|LOW|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding|12/17|c.3471C>T|p.Ser1157Ser|3473/4741|3471/4173|1157/1390||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|21/23|c.4416C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|19/23|c.4416C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|14/23|c.4416C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|22/23|c.4416C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|12/23|c.4416C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|23/23|c.4416C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|13/23|c.4416C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|16/23|c.4416C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|17/23|c.4416C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|20/23|c.4416C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|18/23|c.4416C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|15/23|c.4416C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:PABPC1-interacting_motif-2__PAM2_|ENST00000454349|protein_coding|17/23|c.4416C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:PABPC1-interacting_motif-2__PAM2_|ENST00000454349|protein_coding|18/23|c.4416C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|24/24|c.2004C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|22/24|c.2004C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|20/24|c.2004C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|15/24|c.2004C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|23/24|c.2004C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|13/24|c.2004C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|14/24|c.2004C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|17/24|c.2004C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|18/24|c.2004C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|21/24|c.2004C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|19/24|c.2004C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|16/24|c.2004C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:PABPC1-interacting_motif-2__PAM2_|ENST00000402203|protein_coding|18/24|c.2004C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:PABPC1-interacting_motif-2__PAM2_|ENST00000402203|protein_coding|19/24|c.2004C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|19/21|c.4086C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|17/21|c.4086C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|12/21|c.4086C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|20/21|c.4086C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|10/21|c.4086C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|11/21|c.4086C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|14/21|c.4086C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|21/21|c.4086C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|15/21|c.4086C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|18/21|c.4086C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|16/21|c.4086C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|13/21|c.4086C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:PABPC1-interacting_motif-2__PAM2_|ENST00000335727|protein_coding|15/21|c.4086C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:PABPC1-interacting_motif-2__PAM2_|ENST00000335727|protein_coding|16/21|c.4086C>T|||||| 22 40708601 . G A . . ANN=A|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|18/23|c.4528G>A|p.Ala1510Thr|4739/18279|4528/5502|1510/1833||,A|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|19/24|c.2116G>A|p.Ala706Thr|2418/15958|2116/3090|706/1029||,A|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|19/24|c.2116G>A|p.Ala706Thr|2351/3444|2116/3090|706/1029||,A|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|16/21|c.4198G>A|p.Ala1400Thr|4392/17933|4198/5172|1400/1723||,A|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding|13/17|c.3583G>A|p.Ala1195Thr|3585/4741|3583/4173|1195/1390||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|21/23|c.4528G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|19/23|c.4528G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|14/23|c.4528G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|22/23|c.4528G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|12/23|c.4528G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|23/23|c.4528G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|13/23|c.4528G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|16/23|c.4528G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|17/23|c.4528G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|20/23|c.4528G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|18/23|c.4528G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|15/23|c.4528G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|24/24|c.2116G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|22/24|c.2116G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|20/24|c.2116G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|15/24|c.2116G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|23/24|c.2116G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|13/24|c.2116G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|14/24|c.2116G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|17/24|c.2116G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|18/24|c.2116G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|21/24|c.2116G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|19/24|c.2116G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|16/24|c.2116G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|19/21|c.4198G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|17/21|c.4198G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|12/21|c.4198G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|20/21|c.4198G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|10/21|c.4198G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|11/21|c.4198G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|14/21|c.4198G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|21/21|c.4198G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|15/21|c.4198G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|18/21|c.4198G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|16/21|c.4198G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|13/21|c.4198G>A|||||| 22 40708679 . T C . . 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C T . . ANN=T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|21/23|c.5114+10C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|19/23|c.5114+10C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|14/23|c.5114+10C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|22/23|c.5114+10C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|12/23|c.5114+10C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|23/23|c.5114+10C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|13/23|c.5114+10C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|16/23|c.5114+10C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|17/23|c.5114+10C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|20/23|c.5114+10C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|18/23|c.5114+10C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|15/23|c.5114+10C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|domain:RRM|ENST00000454349|protein_coding|21/23|c.5114+10C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|domain:RRM|ENST00000454349|protein_coding|22/23|c.5114+10C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|domain:RRM|ENST00000454349|protein_coding|23/23|c.5114+10C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|24/24|c.2702+10C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|22/24|c.2702+10C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|20/24|c.2702+10C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|15/24|c.2702+10C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|23/24|c.2702+10C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|13/24|c.2702+10C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|14/24|c.2702+10C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|17/24|c.2702+10C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|18/24|c.2702+10C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|21/24|c.2702+10C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|19/24|c.2702+10C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|16/24|c.2702+10C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|domain:RRM|ENST00000402203|protein_coding|24/24|c.2702+10C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|domain:RRM|ENST00000402203|protein_coding|22/24|c.2702+10C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|domain:RRM|ENST00000402203|protein_coding|23/24|c.2702+10C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|19/21|c.4784+10C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|17/21|c.4784+10C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|12/21|c.4784+10C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|20/21|c.4784+10C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|10/21|c.4784+10C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|11/21|c.4784+10C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|14/21|c.4784+10C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|21/21|c.4784+10C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|15/21|c.4784+10C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|18/21|c.4784+10C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|16/21|c.4784+10C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|13/21|c.4784+10C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|domain:RRM|ENST00000335727|protein_coding|19/21|c.4784+10C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|domain:RRM|ENST00000335727|protein_coding|20/21|c.4784+10C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|domain:RRM|ENST00000335727|protein_coding|21/21|c.4784+10C>T||||||,T|3_prime_UTR_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding|17/17|c.*6C>T|||||6|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|22/22|c.5114+10C>T||||||,T|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|23/23|c.2702+10C>T||||||,T|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|23/23|c.2702+10C>T||||||,T|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|20/20|c.4784+10C>T|||||| 22 40718840 . T C . . ANN=C|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|21/23|c.5115-18T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|19/23|c.5115-18T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|14/23|c.5115-18T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|22/23|c.5115-18T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|12/23|c.5115-18T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|23/23|c.5115-18T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|13/23|c.5115-18T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|16/23|c.5115-18T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|17/23|c.5115-18T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|20/23|c.5115-18T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|18/23|c.5115-18T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|15/23|c.5115-18T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|domain:RRM|ENST00000454349|protein_coding|21/23|c.5115-18T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|domain:RRM|ENST00000454349|protein_coding|22/23|c.5115-18T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|domain:RRM|ENST00000454349|protein_coding|23/23|c.5115-18T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|24/24|c.2703-18T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|22/24|c.2703-18T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|20/24|c.2703-18T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|15/24|c.2703-18T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|23/24|c.2703-18T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|13/24|c.2703-18T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|14/24|c.2703-18T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|17/24|c.2703-18T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|18/24|c.2703-18T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|21/24|c.2703-18T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|19/24|c.2703-18T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|16/24|c.2703-18T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|domain:RRM|ENST00000402203|protein_coding|24/24|c.2703-18T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|domain:RRM|ENST00000402203|protein_coding|22/24|c.2703-18T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|domain:RRM|ENST00000402203|protein_coding|23/24|c.2703-18T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|19/21|c.4785-18T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|17/21|c.4785-18T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|12/21|c.4785-18T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|20/21|c.4785-18T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|10/21|c.4785-18T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|11/21|c.4785-18T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|14/21|c.4785-18T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|21/21|c.4785-18T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|15/21|c.4785-18T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|18/21|c.4785-18T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|16/21|c.4785-18T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|13/21|c.4785-18T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|domain:RRM|ENST00000335727|protein_coding|19/21|c.4785-18T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|domain:RRM|ENST00000335727|protein_coding|20/21|c.4785-18T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|domain:RRM|ENST00000335727|protein_coding|21/21|c.4785-18T>C||||||,C|downstream_gene_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding||c.*4175T>C|||||1037|WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|22/22|c.5115-18T>C||||||,C|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|23/23|c.2703-18T>C||||||,C|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|23/23|c.2703-18T>C||||||,C|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|20/20|c.4785-18T>C|||||| 22 40718965 . C T . . ANN=T|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|23/23|c.5222C>T|p.Ala1741Val|5433/18279|5222/5502|1741/1833||,T|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|24/24|c.2810C>T|p.Ala937Val|3112/15958|2810/3090|937/1029||,T|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|24/24|c.2810C>T|p.Ala937Val|3045/3444|2810/3090|937/1029||,T|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|21/21|c.4892C>T|p.Ala1631Val|5086/17933|4892/5172|1631/1723||,T|downstream_gene_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding||c.*4175C>T|||||1162|WARNING_TRANSCRIPT_NO_START_CODON 22 40718974 . C T . . ANN=T|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|23/23|c.5231C>T|p.Ala1744Val|5442/18279|5231/5502|1744/1833||,T|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|24/24|c.2819C>T|p.Ala940Val|3121/15958|2819/3090|940/1029||,T|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|24/24|c.2819C>T|p.Ala940Val|3054/3444|2819/3090|940/1029||,T|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|21/21|c.4901C>T|p.Ala1634Val|5095/17933|4901/5172|1634/1723||,T|downstream_gene_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding||c.*4175C>T|||||1171|WARNING_TRANSCRIPT_NO_START_CODON 22 40742527 . T A . . ANN=A|5_prime_UTR_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000216194|protein_coding|1/13|c.-36T>A|||||36|,A|upstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000454266|protein_coding||c.-32T>A|||||5|,A|upstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000342312|protein_coding||c.-28T>A|||||9|,A|upstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000477111|retained_intron||n.-1T>A|||||3360|,A|non_coding_exon_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000466863|retained_intron|1/2|n.6T>A|||||| 22 40742540 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000454266|protein_coding|1/13|c.-23C>T|||||23|,T|5_prime_UTR_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000216194|protein_coding|1/13|c.-23C>T|||||23|,T|5_prime_UTR_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000342312|protein_coding|1/12|c.-23C>T|||||23|,T|upstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000477111|retained_intron||n.-1C>T|||||3347|,T|non_coding_exon_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000466863|retained_intron|1/2|n.19C>T|||||| 22 40742542 . T A . . ANN=A|5_prime_UTR_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000454266|protein_coding|1/13|c.-21T>A|||||21|,A|5_prime_UTR_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000216194|protein_coding|1/13|c.-21T>A|||||21|,A|5_prime_UTR_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000342312|protein_coding|1/12|c.-21T>A|||||21|,A|upstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000477111|retained_intron||n.-1T>A|||||3345|,A|non_coding_exon_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000466863|retained_intron|1/2|n.21T>A|||||| 22 40742552 . G T . . ANN=T|5_prime_UTR_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000454266|protein_coding|1/13|c.-11G>T|||||11|,T|5_prime_UTR_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000216194|protein_coding|1/13|c.-11G>T|||||11|,T|5_prime_UTR_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000342312|protein_coding|1/12|c.-11G>T|||||11|,T|upstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000477111|retained_intron||n.-1G>T|||||3335|,T|non_coding_exon_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000466863|retained_intron|1/2|n.31G>T|||||| 22 40742567 . C T . . ANN=T|missense_variant|MODERATE|ADSL|ENSG00000239900|transcript|ENST00000454266|protein_coding|1/13|c.5C>T|p.Ala2Val|36/1620|5/1497|2/498||,T|missense_variant|MODERATE|ADSL|ENSG00000239900|transcript|ENST00000216194|protein_coding|1/13|c.5C>T|p.Ala2Val|61/1993|5/1455|2/484||,T|missense_variant|MODERATE|ADSL|ENSG00000239900|transcript|ENST00000342312|protein_coding|1/12|c.5C>T|p.Ala2Val|32/1779|5/1278|2/425||,T|sequence_feature|MODERATE|ADSL|ENSG00000239900|amino_acid_modification:N-acetylalanine|ENST00000216194|protein_coding|1/13|c.5C>T||||||,T|sequence_feature|MODERATE|ADSL|ENSG00000239900|amino_acid_modification:N-acetylalanine|ENST00000342312|protein_coding|1/12|c.5C>T||||||,T|TF_binding_site_variant|LOW|||Yy1|MA0095.1|||||||||,T|upstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000477111|retained_intron||n.-1C>T|||||3320|,T|non_coding_exon_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000466863|retained_intron|1/2|n.46C>T|||||| 22 40742686 . C T . . ANN=T|synonymous_variant|LOW|ADSL|ENSG00000239900|transcript|ENST00000454266|protein_coding|1/13|c.124C>T|p.Leu42Leu|155/1620|124/1497|42/498||,T|synonymous_variant|LOW|ADSL|ENSG00000239900|transcript|ENST00000216194|protein_coding|1/13|c.124C>T|p.Leu42Leu|180/1993|124/1455|42/484||,T|synonymous_variant|LOW|ADSL|ENSG00000239900|transcript|ENST00000342312|protein_coding|1/12|c.124C>T|p.Leu42Leu|151/1779|124/1278|42/425||,T|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000216194|protein_coding|1/13|c.124C>T||||||,T|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000216194|protein_coding|2/13|c.124C>T||||||,T|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000342312|protein_coding|2/12|c.124C>T||||||,T|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000342312|protein_coding|1/12|c.124C>T||||||,T|upstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000477111|retained_intron||n.-1C>T|||||3201|,T|non_coding_exon_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000466863|retained_intron|1/2|n.165C>T|||||| 22 40745898 . C T . . ANN=T|synonymous_variant|LOW|ADSL|ENSG00000239900|transcript|ENST00000454266|protein_coding|2/13|c.216C>T|p.Ile72Ile|247/1620|216/1497|72/498||,T|synonymous_variant|LOW|ADSL|ENSG00000239900|transcript|ENST00000216194|protein_coding|2/13|c.216C>T|p.Ile72Ile|272/1993|216/1455|72/484||,T|synonymous_variant|LOW|ADSL|ENSG00000239900|transcript|ENST00000342312|protein_coding|2/12|c.216C>T|p.Ile72Ile|243/1779|216/1278|72/425||,T|non_coding_exon_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000466863|retained_intron|2/2|n.257C>T||||||,T|non_coding_exon_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000477111|retained_intron|1/2|n.12C>T|||||| 22 40746045 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|ADSL|ENSG00000239900|transcript|ENST00000454266|protein_coding|2/12|c.357+6C>T||||||,T|splice_region_variant&intron_variant|LOW|ADSL|ENSG00000239900|transcript|ENST00000216194|protein_coding|2/12|c.357+6C>T||||||,T|splice_region_variant&intron_variant|LOW|ADSL|ENSG00000239900|transcript|ENST00000342312|protein_coding|2/11|c.357+6C>T||||||,T|splice_region_variant&intron_variant|LOW|ADSL|ENSG00000239900|transcript|ENST00000477111|retained_intron|1/1|n.153+6C>T||||||,T|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000216194|protein_coding|3/13|c.357+6C>T||||||,T|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000216194|protein_coding|2/13|c.357+6C>T||||||,T|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000216194|protein_coding|4/13|c.357+6C>T||||||,T|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000342312|protein_coding|3/12|c.357+6C>T||||||,T|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000342312|protein_coding|2/12|c.357+6C>T||||||,T|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000342312|protein_coding|4/12|c.357+6C>T||||||,T|non_coding_exon_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000466863|retained_intron|2/2|n.404C>T|||||| 22 40749066 . T G . . ANN=G|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000216194|protein_coding|3/13|c.358-11T>G||||||,G|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000216194|protein_coding|2/13|c.358-11T>G||||||,G|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000216194|protein_coding|4/13|c.358-11T>G||||||,G|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000342312|protein_coding|3/12|c.358-11T>G||||||,G|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000342312|protein_coding|2/12|c.358-11T>G||||||,G|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000342312|protein_coding|4/12|c.358-11T>G||||||,G|downstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000466863|retained_intron||n.*686T>G|||||2739|,G|intron_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000454266|protein_coding|2/12|c.358-271T>G||||||,G|intron_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000216194|protein_coding|2/12|c.358-11T>G||||||,G|intron_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000342312|protein_coding|2/11|c.358-11T>G||||||,G|intron_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000477111|retained_intron|1/1|n.153+3027T>G|||||| 22 40749073 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|ADSL|ENSG00000239900|transcript|ENST00000216194|protein_coding|2/12|c.358-4G>A||||||,A|splice_region_variant&intron_variant|LOW|ADSL|ENSG00000239900|transcript|ENST00000342312|protein_coding|2/11|c.358-4G>A||||||,A|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000216194|protein_coding|3/13|c.358-4G>A||||||,A|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000216194|protein_coding|2/13|c.358-4G>A||||||,A|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000216194|protein_coding|4/13|c.358-4G>A||||||,A|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000342312|protein_coding|3/12|c.358-4G>A||||||,A|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000342312|protein_coding|2/12|c.358-4G>A||||||,A|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000342312|protein_coding|4/12|c.358-4G>A||||||,A|downstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000466863|retained_intron||n.*686G>A|||||2746|,A|intron_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000454266|protein_coding|2/12|c.358-264G>A||||||,A|intron_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000477111|retained_intron|1/1|n.153+3034G>A|||||| 22 40750289 . A T . . ANN=T|missense_variant|MODERATE|ADSL|ENSG00000239900|transcript|ENST00000454266|protein_coding|4/13|c.482A>T|p.Lys161Met|513/1620|482/1497|161/498||,T|missense_variant|MODERATE|ADSL|ENSG00000239900|transcript|ENST00000216194|protein_coding|4/13|c.440A>T|p.Lys147Met|496/1993|440/1455|147/484||,T|missense_variant|MODERATE|ADSL|ENSG00000239900|transcript|ENST00000342312|protein_coding|4/12|c.440A>T|p.Lys147Met|467/1779|440/1278|147/425||,T|sequence_feature|MODERATE|ADSL|ENSG00000239900|amino_acid_modification:N6-acetyllysine|ENST00000216194|protein_coding|4/13|c.440A>T||||||,T|sequence_feature|MODERATE|ADSL|ENSG00000239900|amino_acid_modification:N6-acetyllysine|ENST00000342312|protein_coding|4/12|c.440A>T||||||,T|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000216194|protein_coding|3/13|c.440A>T||||||,T|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000216194|protein_coding|2/13|c.440A>T||||||,T|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000216194|protein_coding|4/13|c.440A>T||||||,T|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000342312|protein_coding|3/12|c.440A>T||||||,T|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000342312|protein_coding|2/12|c.440A>T||||||,T|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000342312|protein_coding|4/12|c.440A>T||||||,T|upstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000480775|processed_transcript||n.-1A>T|||||4683|,T|downstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000466863|retained_intron||n.*686A>T|||||3962|,T|intron_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000477111|retained_intron|1/1|n.153+4250A>T|||||| 22 40750380 . C T . . ANN=T|sequence_feature|LOW|ADSL|ENSG00000239900|beta_strand|ENST00000216194|protein_coding|5/13|c.482+49C>T||||||,T|sequence_feature|LOW|ADSL|ENSG00000239900|beta_strand|ENST00000216194|protein_coding|4/13|c.482+49C>T||||||,T|sequence_feature|LOW|ADSL|ENSG00000239900|beta_strand|ENST00000342312|protein_coding|4/12|c.482+49C>T||||||,T|sequence_feature|LOW|ADSL|ENSG00000239900|beta_strand|ENST00000342312|protein_coding|5/12|c.482+49C>T||||||,T|upstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000480775|processed_transcript||n.-1C>T|||||4592|,T|downstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000466863|retained_intron||n.*686C>T|||||4053|,T|intron_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000454266|protein_coding|4/12|c.524+49C>T||||||,T|intron_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000216194|protein_coding|4/12|c.482+49C>T||||||,T|intron_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000342312|protein_coding|4/11|c.482+49C>T||||||,T|intron_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000477111|retained_intron|1/1|n.153+4341C>T|||||| 22 40754826 . GTCTC G . . ANN=|sequence_feature|LOW|ADSL|ENSG00000239900|beta_strand|ENST00000216194|protein_coding|5/13|c.483-41_483-38delTCTC||||||,|sequence_feature|LOW|ADSL|ENSG00000239900|beta_strand|ENST00000216194|protein_coding|4/13|c.483-41_483-38delTCTC||||||,|sequence_feature|LOW|ADSL|ENSG00000239900|beta_strand|ENST00000342312|protein_coding|4/12|c.483-41_483-38delTCTC||||||,|sequence_feature|LOW|ADSL|ENSG00000239900|beta_strand|ENST00000342312|protein_coding|5/12|c.483-41_483-38delTCTC||||||,|upstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000480775|processed_transcript||n.-1_-1delTCTC|||||145|,|intron_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000454266|protein_coding|4/12|c.525-41_525-38delTCTC||||||,|intron_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000216194|protein_coding|4/12|c.483-41_483-38delTCTC||||||,|intron_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000342312|protein_coding|4/11|c.483-41_483-38delTCTC||||||,|intron_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000477111|retained_intron|1/1|n.154-41_154-38delTCTC|||||| 22 40755001 . G T . . ANN=T|missense_variant|MODERATE|ADSL|ENSG00000239900|transcript|ENST00000454266|protein_coding|5/13|c.658G>T|p.Ala220Ser|689/1620|658/1497|220/498||,T|missense_variant|MODERATE|ADSL|ENSG00000239900|transcript|ENST00000216194|protein_coding|5/13|c.616G>T|p.Ala206Ser|672/1993|616/1455|206/484||,T|missense_variant|MODERATE|ADSL|ENSG00000239900|transcript|ENST00000342312|protein_coding|5/12|c.616G>T|p.Ala206Ser|643/1779|616/1278|206/425||,T|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000216194|protein_coding|5/13|c.616G>T||||||,T|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000342312|protein_coding|5/12|c.616G>T||||||,T|non_coding_exon_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000477111|retained_intron|2/2|n.287G>T||||||,T|non_coding_exon_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000480775|processed_transcript|1/5|n.30G>T|||||| 22 40755034 . C G . . ANN=G|missense_variant|MODERATE|ADSL|ENSG00000239900|transcript|ENST00000454266|protein_coding|5/13|c.691C>G|p.His231Asp|722/1620|691/1497|231/498||,G|missense_variant|MODERATE|ADSL|ENSG00000239900|transcript|ENST00000216194|protein_coding|5/13|c.649C>G|p.His217Asp|705/1993|649/1455|217/484||,G|missense_variant|MODERATE|ADSL|ENSG00000239900|transcript|ENST00000342312|protein_coding|5/12|c.649C>G|p.His217Asp|676/1779|649/1278|217/425||,G|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000216194|protein_coding|5/13|c.649C>G||||||,G|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000216194|protein_coding|6/13|c.649C>G||||||,G|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000342312|protein_coding|6/12|c.649C>G||||||,G|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000342312|protein_coding|5/12|c.649C>G||||||,G|non_coding_exon_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000477111|retained_intron|2/2|n.320C>G||||||,G|non_coding_exon_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000480775|processed_transcript|1/5|n.63C>G|||||| 22 40755222 . G C . . ANN=C|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000216194|protein_coding|5/13|c.655-42G>C||||||,C|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000216194|protein_coding|6/13|c.655-42G>C||||||,C|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000342312|protein_coding|6/12|c.655-42G>C||||||,C|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000342312|protein_coding|5/12|c.655-42G>C||||||,C|intron_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000454266|protein_coding|5/12|c.697-42G>C||||||,C|intron_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000216194|protein_coding|5/12|c.655-42G>C||||||,C|intron_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000342312|protein_coding|5/11|c.655-42G>C||||||,C|intron_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000480775|processed_transcript|1/4|n.69-42G>C||||||,C|non_coding_exon_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000477111|retained_intron|2/2|n.508G>C|||||| 22 40756399 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|ADSL|ENSG00000239900|transcript|ENST00000454266|protein_coding|6/12|c.744-7T>C||||||,C|splice_region_variant&intron_variant|LOW|ADSL|ENSG00000239900|transcript|ENST00000216194|protein_coding|6/12|c.702-7T>C||||||,C|splice_region_variant&intron_variant|LOW|ADSL|ENSG00000239900|transcript|ENST00000342312|protein_coding|6/11|c.702-7T>C||||||,C|splice_region_variant&intron_variant|LOW|ADSL|ENSG00000239900|transcript|ENST00000480775|processed_transcript|2/4|n.116-7T>C||||||,C|upstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000498234|protein_coding||c.-3T>C|||||4644|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000423176|retained_intron||n.-1T>C|||||4930|,C|downstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000477111|retained_intron||n.*592T>C|||||1093| 22 40756526 . C T . . ANN=T|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000216194|protein_coding|8/13|c.792+30C>T||||||,T|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000216194|protein_coding|7/13|c.792+30C>T||||||,T|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000342312|protein_coding|8/12|c.792+30C>T||||||,T|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000342312|protein_coding|7/12|c.792+30C>T||||||,T|upstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000498234|protein_coding||c.-3C>T|||||4517|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000423176|retained_intron||n.-1C>T|||||4803|,T|downstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000477111|retained_intron||n.*592C>T|||||1220|,T|intron_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000454266|protein_coding|7/12|c.834+30C>T||||||,T|intron_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000216194|protein_coding|7/12|c.792+30C>T||||||,T|intron_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000342312|protein_coding|7/11|c.792+30C>T||||||,T|intron_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000480775|processed_transcript|3/4|n.206+30C>T|||||| 22 40756542 . CACAG C . . ANN=|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000216194|protein_coding|8/13|c.792+47_792+50delACAG||||||,|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000216194|protein_coding|7/13|c.792+47_792+50delACAG||||||,|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000342312|protein_coding|8/12|c.792+47_792+50delACAG||||||,|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000342312|protein_coding|7/12|c.792+47_792+50delACAG||||||,|upstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000498234|protein_coding||c.-3_-3delACAG|||||4500|WARNING_TRANSCRIPT_NO_START_CODON,|upstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000423176|retained_intron||n.-1_-1delACAG|||||4786|,|downstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000477111|retained_intron||n.*592_*592delACAG|||||1237|,|intron_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000454266|protein_coding|7/12|c.834+53_834+56delAGAC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000216194|protein_coding|7/12|c.792+53_792+56delAGAC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000342312|protein_coding|7/11|c.792+53_792+56delAGAC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000480775|processed_transcript|3/4|n.206+53_206+56delAGAC||||||INFO_REALIGN_3_PRIME 22 40757228 . A C . . ANN=C|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000216194|protein_coding|8/13|c.793-49A>C||||||,C|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000216194|protein_coding|7/13|c.793-49A>C||||||,C|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000342312|protein_coding|8/12|c.793-49A>C||||||,C|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000342312|protein_coding|7/12|c.793-49A>C||||||,C|upstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000498234|protein_coding||c.-3A>C|||||3815|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000423176|retained_intron||n.-1A>C|||||4101|,C|downstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000477111|retained_intron||n.*592A>C|||||1922|,C|intron_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000454266|protein_coding|7/12|c.835-49A>C||||||,C|intron_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000216194|protein_coding|7/12|c.793-49A>C||||||,C|intron_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000342312|protein_coding|7/11|c.793-49A>C||||||,C|non_coding_exon_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000480775|processed_transcript|4/5|n.343A>C|||||| 22 40757292 . C T . . ANN=T|missense_variant|MODERATE|ADSL|ENSG00000239900|transcript|ENST00000454266|protein_coding|8/13|c.850C>T|p.Arg284Cys|881/1620|850/1497|284/498||,T|missense_variant|MODERATE|ADSL|ENSG00000239900|transcript|ENST00000216194|protein_coding|8/13|c.808C>T|p.Arg270Cys|864/1993|808/1455|270/484||,T|missense_variant|MODERATE|ADSL|ENSG00000239900|transcript|ENST00000342312|protein_coding|8/12|c.808C>T|p.Arg270Cys|835/1779|808/1278|270/425||,T|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000216194|protein_coding|8/13|c.808C>T||||||,T|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000216194|protein_coding|7/13|c.808C>T||||||,T|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000342312|protein_coding|8/12|c.808C>T||||||,T|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000342312|protein_coding|7/12|c.808C>T||||||,T|upstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000498234|protein_coding||c.-3C>T|||||3751|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000423176|retained_intron||n.-1C>T|||||4037|,T|downstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000477111|retained_intron||n.*592C>T|||||1986|,T|non_coding_exon_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000480775|processed_transcript|4/5|n.407C>T|||||| 22 40757509 . T C . . ANN=C|missense_variant|MODERATE|ADSL|ENSG00000239900|transcript|ENST00000454266|protein_coding|9/13|c.922T>C|p.Tyr308His|953/1620|922/1497|308/498||,C|missense_variant|MODERATE|ADSL|ENSG00000239900|transcript|ENST00000216194|protein_coding|9/13|c.880T>C|p.Tyr294His|936/1993|880/1455|294/484||,C|missense_variant|MODERATE|ADSL|ENSG00000239900|transcript|ENST00000342312|protein_coding|9/12|c.880T>C|p.Tyr294His|907/1779|880/1278|294/425||,C|upstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000498234|protein_coding||c.-3T>C|||||3534|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000423176|retained_intron||n.-1T>C|||||3820|,C|downstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000477111|retained_intron||n.*592T>C|||||2203|,C|non_coding_exon_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000480775|processed_transcript|5/5|n.479T>C|||||| 22 40757524 . A G . . ANN=G|missense_variant|MODERATE|ADSL|ENSG00000239900|transcript|ENST00000454266|protein_coding|9/13|c.937A>G|p.Met313Val|968/1620|937/1497|313/498||,G|missense_variant|MODERATE|ADSL|ENSG00000239900|transcript|ENST00000216194|protein_coding|9/13|c.895A>G|p.Met299Val|951/1993|895/1455|299/484||,G|missense_variant|MODERATE|ADSL|ENSG00000239900|transcript|ENST00000342312|protein_coding|9/12|c.895A>G|p.Met299Val|922/1779|895/1278|299/425||,G|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000216194|protein_coding|9/13|c.895A>G||||||,G|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000342312|protein_coding|9/12|c.895A>G||||||,G|upstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000498234|protein_coding||c.-3A>G|||||3519|WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000423176|retained_intron||n.-1A>G|||||3805|,G|downstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000477111|retained_intron||n.*592A>G|||||2218|,G|non_coding_exon_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000480775|processed_transcript|5/5|n.494A>G|||||| 22 40757657 . A G . . ANN=G|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000216194|protein_coding|9/13|c.1010+18A>G||||||,G|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000216194|protein_coding|10/13|c.1010+18A>G||||||,G|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000342312|protein_coding|9/12|c.1010+18A>G||||||,G|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000342312|protein_coding|10/12|c.1010+18A>G||||||,G|upstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000498234|protein_coding||c.-3A>G|||||3386|WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000423176|retained_intron||n.-1A>G|||||3672|,G|downstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000477111|retained_intron||n.*592A>G|||||2351|,G|downstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000480775|processed_transcript||n.*564A>G|||||63|,G|intron_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000454266|protein_coding|9/12|c.1052+18A>G||||||,G|intron_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000216194|protein_coding|9/12|c.1010+18A>G||||||,G|intron_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000342312|protein_coding|9/11|c.1010+18A>G|||||| 22 40757684 . C G . . ANN=G|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000216194|protein_coding|9/13|c.1010+45C>G||||||,G|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000216194|protein_coding|10/13|c.1010+45C>G||||||,G|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000342312|protein_coding|9/12|c.1010+45C>G||||||,G|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000342312|protein_coding|10/12|c.1010+45C>G||||||,G|upstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000498234|protein_coding||c.-3C>G|||||3359|WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000423176|retained_intron||n.-1C>G|||||3645|,G|downstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000477111|retained_intron||n.*592C>G|||||2378|,G|downstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000480775|processed_transcript||n.*564C>G|||||90|,G|intron_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000454266|protein_coding|9/12|c.1052+45C>G||||||,G|intron_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000216194|protein_coding|9/12|c.1010+45C>G||||||,G|intron_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000342312|protein_coding|9/11|c.1010+45C>G|||||| 22 40760241 . G C . . ANN=C|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000216194|protein_coding|11/13|c.1102-39G>C||||||,C|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000216194|protein_coding|10/13|c.1102-39G>C||||||,C|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000342312|protein_coding|11/12|c.1102-39G>C||||||,C|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000342312|protein_coding|10/12|c.1102-39G>C||||||,C|upstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000498234|protein_coding||c.-3G>C|||||802|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000423176|retained_intron||n.-1G>C|||||1088|,C|downstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000477111|retained_intron||n.*592G>C|||||4935|,C|downstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000480775|processed_transcript||n.*564G>C|||||2647|,C|intron_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000454266|protein_coding|10/12|c.1144-39G>C||||||,C|intron_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000216194|protein_coding|10/12|c.1102-39G>C||||||,C|intron_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000342312|protein_coding|10/11|c.1102-39G>C|||||| 22 40760264 . G C . . ANN=C|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000216194|protein_coding|11/13|c.1102-16G>C||||||,C|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000216194|protein_coding|10/13|c.1102-16G>C||||||,C|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000342312|protein_coding|11/12|c.1102-16G>C||||||,C|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000342312|protein_coding|10/12|c.1102-16G>C||||||,C|upstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000498234|protein_coding||c.-3G>C|||||779|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000423176|retained_intron||n.-1G>C|||||1065|,C|downstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000477111|retained_intron||n.*592G>C|||||4958|,C|downstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000480775|processed_transcript||n.*564G>C|||||2670|,C|intron_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000454266|protein_coding|10/12|c.1144-16G>C||||||,C|intron_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000216194|protein_coding|10/12|c.1102-16G>C||||||,C|intron_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000342312|protein_coding|10/11|c.1102-16G>C|||||| 22 40760290 . G A . . ANN=A|missense_variant|MODERATE|ADSL|ENSG00000239900|transcript|ENST00000454266|protein_coding|11/13|c.1154G>A|p.Arg385Gln|1185/1620|1154/1497|385/498||,A|missense_variant|MODERATE|ADSL|ENSG00000239900|transcript|ENST00000216194|protein_coding|11/13|c.1112G>A|p.Arg371Gln|1168/1993|1112/1455|371/484||,A|missense_variant|MODERATE|ADSL|ENSG00000239900|transcript|ENST00000342312|protein_coding|11/12|c.1112G>A|p.Arg371Gln|1139/1779|1112/1278|371/425||,A|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000216194|protein_coding|11/13|c.1112G>A||||||,A|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000216194|protein_coding|10/13|c.1112G>A||||||,A|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000342312|protein_coding|11/12|c.1112G>A||||||,A|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000342312|protein_coding|10/12|c.1112G>A||||||,A|upstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000498234|protein_coding||c.-3G>A|||||753|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000423176|retained_intron||n.-1G>A|||||1039|,A|downstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000477111|retained_intron||n.*592G>A|||||4984|,A|downstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000480775|processed_transcript||n.*564G>A|||||2696| 22 40760858 . C T . . ANN=T|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000216194|protein_coding|11/13|c.1192-26C>T||||||,T|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000216194|protein_coding|12/13|c.1192-26C>T||||||,T|upstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000498234|protein_coding||c.-3C>T|||||185|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000423176|retained_intron||n.-1C>T|||||471|,T|downstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000480775|processed_transcript||n.*564C>T|||||3264|,T|intron_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000454266|protein_coding|11/12|c.1234-26C>T||||||,T|intron_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000216194|protein_coding|11/12|c.1192-26C>T||||||,T|intron_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000342312|protein_coding|11/11|c.1191+489C>T|||||| 22 40760881 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|ADSL|ENSG00000239900|transcript|ENST00000454266|protein_coding|11/12|c.1234-3C>T||||||,T|splice_region_variant&intron_variant|LOW|ADSL|ENSG00000239900|transcript|ENST00000216194|protein_coding|11/12|c.1192-3C>T||||||,T|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000216194|protein_coding|11/13|c.1192-3C>T||||||,T|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000216194|protein_coding|12/13|c.1192-3C>T||||||,T|upstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000498234|protein_coding||c.-3C>T|||||162|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000423176|retained_intron||n.-1C>T|||||448|,T|downstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000480775|processed_transcript||n.*564C>T|||||3287|,T|intron_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000342312|protein_coding|11/11|c.1191+512C>T|||||| 22 40762397 . T A . . ANN=A|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000216194|protein_coding|13/13|c.1369-43T>A||||||,A|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000216194|protein_coding|12/13|c.1369-43T>A||||||,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding||c.-190T>A|||||4218|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.-328T>A|||||4198|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding||c.-288T>A|||||4238|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron||n.-1T>A|||||4246|,A|downstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000480775|processed_transcript||n.*564T>A|||||4803|,A|intron_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000454266|protein_coding|12/12|c.1411-43T>A||||||,A|intron_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000216194|protein_coding|12/12|c.1369-43T>A||||||,A|intron_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000342312|protein_coding|11/11|c.1192-43T>A||||||,A|intron_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000498234|protein_coding|1/2|c.17-43T>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000423176|retained_intron|1/2|n.1069T>A|||||| 22 40762408 . TC T . . ANN=|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000216194|protein_coding|13/13|c.1369-31delC||||||,|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000216194|protein_coding|12/13|c.1369-31delC||||||,|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding||c.-190delC|||||4206|,|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.-328delC|||||4186|WARNING_TRANSCRIPT_NO_STOP_CODON,|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding||c.-288delC|||||4226|,|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron||n.-1delC|||||4234|,|downstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000480775|processed_transcript||n.*564delC|||||4815|,|intron_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000454266|protein_coding|12/12|c.1411-31delC||||||,|intron_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000216194|protein_coding|12/12|c.1369-31delC||||||,|intron_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000342312|protein_coding|11/11|c.1192-31delC||||||,|intron_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000498234|protein_coding|1/2|c.17-31delC||||||WARNING_TRANSCRIPT_NO_START_CODON,|non_coding_exon_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000423176|retained_intron|1/2|n.1081delC|||||| 22 40797647 . T C . . ANN=C|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|3/22|c.58T>C|p.Trp20Arg|247/2969|58/2250|20/749||,C|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron||n.-1T>C|||||2470|,C|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.-1T>C|||||4470|,C|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.-1T>C|||||4795|,C|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding|2/7|c.-111-496T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|2/17|c.-111-496T>C||||||,C|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|3/20|n.219T>C|||||| 22 40798179 . G A . . ANN=A|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|4/22|c.127G>A|p.Asp43Asn|316/2969|127/2250|43/749||,A|5_prime_UTR_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding|3/8|c.-75G>A|||||2116|WARNING_TRANSCRIPT_NO_STOP_CODON,A|5_prime_UTR_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|3/18|c.-75G>A|||||2116|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron||n.-1G>A|||||1938|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.-1G>A|||||3938|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.-1G>A|||||4263|,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|4/20|n.288G>A|||||| 22 40798227 . T G . . ANN=G|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron||n.-1T>G|||||1890|,G|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.-1T>G|||||3890|,G|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.-1T>G|||||4215|,G|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|4/21|c.157+18T>G||||||,G|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding|3/7|c.-45+18T>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|3/17|c.-45+18T>G||||||,G|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|4/19|n.318+18T>G|||||| 22 40800282 . G A . . ANN=A|synonymous_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|5/22|c.189G>A|p.Ala63Ala|378/2969|189/2250|63/749||,A|5_prime_UTR_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding|4/8|c.-13G>A|||||13|WARNING_TRANSCRIPT_NO_STOP_CODON,A|5_prime_UTR_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|4/18|c.-13G>A|||||13|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.-1G>A|||||1835|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.-1G>A|||||2160|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.-1G>A|||||2973|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.-1G>A|||||2999|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.-1G>A|||||3061|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.-1G>A|||||4035|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1G>A|||||4110|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1G>A|||||4349|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2G>A|||||4516|,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|5/20|n.350G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|1/9|n.166G>A|||||| 22 40800320 . G A . . ANN=A|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|5/22|c.227G>A|p.Arg76Gln|416/2969|227/2250|76/749||,A|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding|4/8|c.26G>A|p.Arg9Gln|353/1086|26/759|9/252||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|4/18|c.26G>A|p.Arg9Gln|313/2359|26/1791|9/596||,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.-1G>A|||||1797|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.-1G>A|||||2122|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.-1G>A|||||2935|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.-1G>A|||||2961|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.-1G>A|||||3023|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.-1G>A|||||3997|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1G>A|||||4072|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1G>A|||||4311|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2G>A|||||4478|,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|5/20|n.388G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|1/9|n.204G>A|||||| 22 40800385 . G A . . ANN=A|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|5/22|c.292G>A|p.Ala98Thr|481/2969|292/2250|98/749||,A|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding|4/8|c.91G>A|p.Ala31Thr|418/1086|91/759|31/252||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|4/18|c.91G>A|p.Ala31Thr|378/2359|91/1791|31/596||,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.-1G>A|||||1732|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.-1G>A|||||2057|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.-1G>A|||||2870|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.-1G>A|||||2896|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.-1G>A|||||2958|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.-1G>A|||||3932|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1G>A|||||4007|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1G>A|||||4246|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2G>A|||||4413|,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|5/20|n.453G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|1/9|n.269G>A|||||| 22 40800386 . C T . . ANN=T|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|5/22|c.293C>T|p.Ala98Val|482/2969|293/2250|98/749||,T|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding|4/8|c.92C>T|p.Ala31Val|419/1086|92/759|31/252||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|4/18|c.92C>T|p.Ala31Val|379/2359|92/1791|31/596||,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.-1C>T|||||1731|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.-1C>T|||||2056|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.-1C>T|||||2869|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.-1C>T|||||2895|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.-1C>T|||||2957|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.-1C>T|||||3931|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1C>T|||||4006|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1C>T|||||4245|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2C>T|||||4412|,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|5/20|n.454C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|1/9|n.270C>T|||||| 22 40800400 . C T . . ANN=T|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|5/22|c.307C>T|p.Arg103Cys|496/2969|307/2250|103/749||,T|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding|4/8|c.106C>T|p.Arg36Cys|433/1086|106/759|36/252||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|4/18|c.106C>T|p.Arg36Cys|393/2359|106/1791|36/596||,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.-1C>T|||||1717|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.-1C>T|||||2042|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.-1C>T|||||2855|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.-1C>T|||||2881|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.-1C>T|||||2943|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.-1C>T|||||3917|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1C>T|||||3992|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1C>T|||||4231|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2C>T|||||4398|,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|5/20|n.468C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|1/9|n.284C>T|||||| 22 40800518 . G A . . ANN=A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|7/22|c.367-43G>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|6/22|c.367-43G>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|5/22|c.367-43G>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|8/22|c.367-43G>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|9/22|c.367-43G>A||||||,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.-1G>A|||||1599|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.-1G>A|||||1924|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.-1G>A|||||2737|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.-1G>A|||||2763|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.-1G>A|||||2825|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.-1G>A|||||3799|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1G>A|||||3874|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1G>A|||||4113|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2G>A|||||4280|,A|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|5/21|c.367-43G>A||||||,A|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding|4/7|c.166-43G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|4/17|c.166-43G>A||||||,A|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|5/19|n.528-43G>A||||||,A|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|1/8|n.344-43G>A|||||| 22 40800522 . C T . . ANN=T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|7/22|c.367-39C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|6/22|c.367-39C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|5/22|c.367-39C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|8/22|c.367-39C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|9/22|c.367-39C>T||||||,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.-1C>T|||||1595|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.-1C>T|||||1920|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.-1C>T|||||2733|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.-1C>T|||||2759|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.-1C>T|||||2821|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.-1C>T|||||3795|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1C>T|||||3870|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1C>T|||||4109|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2C>T|||||4276|,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|5/21|c.367-39C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding|4/7|c.166-39C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|4/17|c.166-39C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|5/19|n.528-39C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|1/8|n.344-39C>T|||||| 22 40800544 . C T . . ANN=T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|7/22|c.367-17C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|6/22|c.367-17C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|5/22|c.367-17C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|8/22|c.367-17C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|9/22|c.367-17C>T||||||,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.-1C>T|||||1573|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.-1C>T|||||1898|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.-1C>T|||||2711|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.-1C>T|||||2737|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.-1C>T|||||2799|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.-1C>T|||||3773|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1C>T|||||3848|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1C>T|||||4087|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2C>T|||||4254|,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|5/21|c.367-17C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding|4/7|c.166-17C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|4/17|c.166-17C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|5/19|n.528-17C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|1/8|n.344-17C>T|||||| 22 40800653 . C G . . ANN=G|synonymous_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|6/22|c.459C>G|p.Thr153Thr|648/2969|459/2250|153/749||,G|synonymous_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding|5/8|c.258C>G|p.Thr86Thr|585/1086|258/759|86/252||WARNING_TRANSCRIPT_NO_STOP_CODON,G|synonymous_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|5/18|c.258C>G|p.Thr86Thr|545/2359|258/1791|86/596||,G|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|7/22|c.459C>G||||||,G|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|6/22|c.459C>G||||||,G|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|5/22|c.459C>G||||||,G|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|8/22|c.459C>G||||||,G|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|9/22|c.459C>G||||||,G|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.-1C>G|||||1464|,G|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.-1C>G|||||1789|,G|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.-1C>G|||||2602|,G|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.-1C>G|||||2628|,G|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.-1C>G|||||2690|,G|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.-1C>G|||||3664|WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1C>G|||||3739|,G|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1C>G|||||3978|,G|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2C>G|||||4145|,G|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|6/20|n.620C>G||||||,G|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|2/9|n.436C>G|||||| 22 40800676 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|6/21|c.474+8C>T||||||,T|splice_region_variant&intron_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding|5/7|c.273+8C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|splice_region_variant&intron_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|5/17|c.273+8C>T||||||,T|splice_region_variant&intron_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|6/19|n.635+8C>T||||||,T|splice_region_variant&intron_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|2/8|n.451+8C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|7/22|c.474+8C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|6/22|c.474+8C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|5/22|c.474+8C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|8/22|c.474+8C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|9/22|c.474+8C>T||||||,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.-1C>T|||||1441|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.-1C>T|||||1766|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.-1C>T|||||2579|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.-1C>T|||||2605|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.-1C>T|||||2667|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.-1C>T|||||3641|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1C>T|||||3716|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1C>T|||||3955|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2C>T|||||4122| 22 40801129 . G A . . ANN=A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|7/22|c.475-16G>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|6/22|c.475-16G>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|5/22|c.475-16G>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|8/22|c.475-16G>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|9/22|c.475-16G>A||||||,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.-1G>A|||||988|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.-1G>A|||||1313|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.-1G>A|||||2126|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.-1G>A|||||2152|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.-1G>A|||||2214|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.-1G>A|||||3188|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1G>A|||||3263|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1G>A|||||3502|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2G>A|||||3669|,A|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|6/21|c.475-16G>A||||||,A|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding|5/7|c.274-16G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|5/17|c.274-16G>A||||||,A|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|6/19|n.636-16G>A||||||,A|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|2/8|n.452-16G>A|||||| 22 40801181 . G A . . ANN=A|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|7/22|c.511G>A|p.Ala171Thr|700/2969|511/2250|171/749||,A|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding|6/8|c.310G>A|p.Ala104Thr|637/1086|310/759|104/252||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|6/18|c.310G>A|p.Ala104Thr|597/2359|310/1791|104/596||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|7/22|c.511G>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|6/22|c.511G>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|5/22|c.511G>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|8/22|c.511G>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|9/22|c.511G>A||||||,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.-1G>A|||||936|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.-1G>A|||||1261|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.-1G>A|||||2074|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.-1G>A|||||2100|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.-1G>A|||||2162|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.-1G>A|||||3136|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1G>A|||||3211|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1G>A|||||3450|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2G>A|||||3617|,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|7/20|n.672G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|3/9|n.488G>A|||||| 22 40801207 . C T . . ANN=T|synonymous_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|7/22|c.537C>T|p.Ile179Ile|726/2969|537/2250|179/749||,T|synonymous_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding|6/8|c.336C>T|p.Ile112Ile|663/1086|336/759|112/252||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|6/18|c.336C>T|p.Ile112Ile|623/2359|336/1791|112/596||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|7/22|c.537C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|6/22|c.537C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|5/22|c.537C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|8/22|c.537C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|9/22|c.537C>T||||||,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.-1C>T|||||910|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.-1C>T|||||1235|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.-1C>T|||||2048|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.-1C>T|||||2074|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.-1C>T|||||2136|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.-1C>T|||||3110|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1C>T|||||3185|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1C>T|||||3424|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2C>T|||||3591|,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|7/20|n.698C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|3/9|n.514C>T|||||| 22 40801282 . C T . . ANN=T|synonymous_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|7/22|c.612C>T|p.Thr204Thr|801/2969|612/2250|204/749||,T|synonymous_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding|6/8|c.411C>T|p.Thr137Thr|738/1086|411/759|137/252||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|6/18|c.411C>T|p.Thr137Thr|698/2359|411/1791|137/596||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|7/22|c.612C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|6/22|c.612C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|5/22|c.612C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|8/22|c.612C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|9/22|c.612C>T||||||,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.-1C>T|||||835|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.-1C>T|||||1160|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.-1C>T|||||1973|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.-1C>T|||||1999|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.-1C>T|||||2061|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.-1C>T|||||3035|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1C>T|||||3110|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1C>T|||||3349|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2C>T|||||3516|,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|7/20|n.773C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|3/9|n.589C>T|||||| 22 40801312 . A G . . ANN=G|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|7/22|c.618+24A>G||||||,G|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|6/22|c.618+24A>G||||||,G|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|5/22|c.618+24A>G||||||,G|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|8/22|c.618+24A>G||||||,G|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|9/22|c.618+24A>G||||||,G|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.-1A>G|||||805|,G|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.-1A>G|||||1130|,G|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.-1A>G|||||1943|,G|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.-1A>G|||||1969|,G|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.-1A>G|||||2031|,G|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.-1A>G|||||3005|WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1A>G|||||3080|,G|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1A>G|||||3319|,G|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2A>G|||||3486|,G|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387T>C|||||4973|,G|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988T>C|||||4974|,G|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243T>C|||||4982|,G|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003T>C|||||4994|,G|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|7/21|c.618+24A>G||||||,G|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding|6/7|c.417+24A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|6/17|c.417+24A>G||||||,G|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|7/19|n.779+24A>G||||||,G|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|3/8|n.595+24A>G|||||| 22 40801604 . T A . . ANN=A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|7/22|c.619-49T>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|6/22|c.619-49T>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|5/22|c.619-49T>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|8/22|c.619-49T>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|9/22|c.619-49T>A||||||,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.-1T>A|||||513|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.-1T>A|||||838|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.-1T>A|||||1651|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.-1T>A|||||1677|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.-1T>A|||||1739|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.-1T>A|||||2713|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1T>A|||||2788|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1T>A|||||3027|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2T>A|||||3194|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387A>T|||||4681|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988A>T|||||4682|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243A>T|||||4690|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003A>T|||||4702|,A|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|7/21|c.619-49T>A||||||,A|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding|6/7|c.418-49T>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|6/17|c.418-49T>A||||||,A|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|7/19|n.780-49T>A||||||,A|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|3/8|n.596-49T>A|||||| 22 40801663 . G T . . ANN=T|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|8/22|c.629G>T|p.Cys210Phe|818/2969|629/2250|210/749||,T|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding|7/8|c.428G>T|p.Cys143Phe|755/1086|428/759|143/252||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|7/18|c.428G>T|p.Cys143Phe|715/2359|428/1791|143/596||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|7/22|c.629G>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|6/22|c.629G>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|5/22|c.629G>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|8/22|c.629G>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|9/22|c.629G>T||||||,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.-1G>T|||||454|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.-1G>T|||||779|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.-1G>T|||||1592|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.-1G>T|||||1618|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.-1G>T|||||1680|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.-1G>T|||||2654|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1G>T|||||2729|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1G>T|||||2968|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2G>T|||||3135|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387C>A|||||4622|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988C>A|||||4623|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243C>A|||||4631|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003C>A|||||4643|,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|8/20|n.790G>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|4/9|n.606G>T|||||| 22 40801733 . C T . . ANN=T|synonymous_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|8/22|c.699C>T|p.Pro233Pro|888/2969|699/2250|233/749||,T|synonymous_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding|7/8|c.498C>T|p.Pro166Pro|825/1086|498/759|166/252||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|7/18|c.498C>T|p.Pro166Pro|785/2359|498/1791|166/596||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|7/22|c.699C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|6/22|c.699C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|5/22|c.699C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|8/22|c.699C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|9/22|c.699C>T||||||,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.-1C>T|||||384|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.-1C>T|||||709|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.-1C>T|||||1522|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.-1C>T|||||1548|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.-1C>T|||||1610|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.-1C>T|||||2584|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1C>T|||||2659|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1C>T|||||2898|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2C>T|||||3065|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387G>A|||||4552|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988G>A|||||4553|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243G>A|||||4561|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003G>A|||||4573|,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|8/20|n.860C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|4/9|n.676C>T|||||| 22 40801787 . G C . . ANN=C|synonymous_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|8/22|c.753G>C|p.Leu251Leu|942/2969|753/2250|251/749||,C|synonymous_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding|7/8|c.552G>C|p.Leu184Leu|879/1086|552/759|184/252||WARNING_TRANSCRIPT_NO_STOP_CODON,C|synonymous_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|7/18|c.552G>C|p.Leu184Leu|839/2359|552/1791|184/596||,C|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|7/22|c.753G>C||||||,C|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|6/22|c.753G>C||||||,C|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|5/22|c.753G>C||||||,C|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|8/22|c.753G>C||||||,C|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|9/22|c.753G>C||||||,C|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.-1G>C|||||330|,C|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.-1G>C|||||655|,C|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.-1G>C|||||1468|,C|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.-1G>C|||||1494|,C|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.-1G>C|||||1556|,C|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.-1G>C|||||2530|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1G>C|||||2605|,C|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1G>C|||||2844|,C|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2G>C|||||3011|,C|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387C>G|||||4498|,C|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988C>G|||||4499|,C|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243C>G|||||4507|,C|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003C>G|||||4519|,C|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|8/20|n.914G>C||||||,C|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|4/9|n.730G>C|||||| 22 40801855 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|8/21|c.814+7C>T||||||,T|splice_region_variant&intron_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding|7/7|c.613+7C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|splice_region_variant&intron_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|7/17|c.613+7C>T||||||,T|splice_region_variant&intron_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|8/19|n.975+7C>T||||||,T|splice_region_variant&intron_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|4/8|n.791+7C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|7/22|c.814+7C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|6/22|c.814+7C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|5/22|c.814+7C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|8/22|c.814+7C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|9/22|c.814+7C>T||||||,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.-1C>T|||||262|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.-1C>T|||||587|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.-1C>T|||||1400|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.-1C>T|||||1426|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.-1C>T|||||1488|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.-1C>T|||||2462|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1C>T|||||2537|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1C>T|||||2776|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2C>T|||||2943|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387G>A|||||4430|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988G>A|||||4431|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243G>A|||||4439|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003G>A|||||4451| 22 40801874 . C T . . ANN=T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|7/22|c.814+26C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|6/22|c.814+26C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|5/22|c.814+26C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|8/22|c.814+26C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|9/22|c.814+26C>T||||||,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.-1C>T|||||243|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.-1C>T|||||568|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.-1C>T|||||1381|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.-1C>T|||||1407|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.-1C>T|||||1469|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.-1C>T|||||2443|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1C>T|||||2518|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1C>T|||||2757|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2C>T|||||2924|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387G>A|||||4411|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988G>A|||||4412|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243G>A|||||4420|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003G>A|||||4432|,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|8/21|c.814+26C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding|7/7|c.613+26C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|7/17|c.613+26C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|8/19|n.975+26C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|4/8|n.791+26C>T|||||| 22 40802189 . G A . . ANN=A|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|9/22|c.922G>A|p.Val308Met|1111/2969|922/2250|308/749||,A|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding|8/8|c.721G>A|p.Val241Met|1048/1086|721/759|241/252||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|8/18|c.721G>A|p.Val241Met|1008/2359|721/1791|241/596||,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.-1G>A|||||253|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.-1G>A|||||1066|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.-1G>A|||||1092|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.-1G>A|||||1154|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.-1G>A|||||2128|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1G>A|||||2203|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1G>A|||||2442|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2G>A|||||2609|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387C>T|||||4096|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988C>T|||||4097|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243C>T|||||4105|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003C>T|||||4117|,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|9/20|n.1083G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|5/9|n.899G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron|1/7|n.73G>A|||||| 22 40802194 . G A . . ANN=A|synonymous_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|9/22|c.927G>A|p.Leu309Leu|1116/2969|927/2250|309/749||,A|synonymous_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding|8/8|c.726G>A|p.Leu242Leu|1053/1086|726/759|242/252||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|8/18|c.726G>A|p.Leu242Leu|1013/2359|726/1791|242/596||,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.-1G>A|||||248|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.-1G>A|||||1061|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.-1G>A|||||1087|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.-1G>A|||||1149|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.-1G>A|||||2123|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1G>A|||||2198|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1G>A|||||2437|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2G>A|||||2604|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387C>T|||||4091|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988C>T|||||4092|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243C>T|||||4100|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003C>T|||||4112|,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|9/20|n.1088G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|5/9|n.904G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron|1/7|n.78G>A|||||| 22 40802267 . C T . . ANN=T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.-1C>T|||||175|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.-1C>T|||||988|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.-1C>T|||||1014|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.-1C>T|||||1076|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.-1C>T|||||2050|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1C>T|||||2125|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1C>T|||||2364|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2C>T|||||2531|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387G>A|||||4018|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086C>T|||||40|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988G>A|||||4019|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243G>A|||||4027|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003G>A|||||4039|,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|9/21|c.960+40C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|8/17|c.759+40C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|9/19|n.1121+40C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|5/8|n.937+40C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron|1/6|n.111+40C>T|||||| 22 40802392 . G A . . ANN=A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.-1G>A|||||50|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.-1G>A|||||863|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.-1G>A|||||889|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.-1G>A|||||951|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.-1G>A|||||1925|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1G>A|||||2000|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1G>A|||||2239|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2G>A|||||2406|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387C>T|||||3893|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086G>A|||||165|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988C>T|||||3894|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243C>T|||||3902|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003C>T|||||3914|,A|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|9/21|c.961-50G>A||||||,A|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|8/17|c.760-50G>A||||||,A|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|9/19|n.1122-50G>A||||||,A|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|5/8|n.938-50G>A||||||,A|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron|1/6|n.112-50G>A|||||| 22 40802444 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|10/22|c.963G>A|p.Glu321Glu|1152/2969|963/2250|321/749||,A|splice_region_variant&synonymous_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|9/18|c.762G>A|p.Glu254Glu|1049/2359|762/1791|254/596||,A|splice_region_variant&non_coding_exon_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|10/20|n.1124G>A||||||,A|splice_region_variant&non_coding_exon_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|6/9|n.940G>A||||||,A|splice_region_variant&non_coding_exon_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron|2/7|n.114G>A||||||,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.-1G>A|||||811|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.-1G>A|||||837|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.-1G>A|||||899|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.-1G>A|||||1873|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1G>A|||||1948|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1G>A|||||2187|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2G>A|||||2354|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387C>T|||||3841|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086G>A|||||217|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988C>T|||||3842|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243C>T|||||3850|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003C>T|||||3862|,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron|1/6|n.3G>A|||||| 22 40802489 . G A . . ANN=A|synonymous_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|10/22|c.1008G>A|p.Thr336Thr|1197/2969|1008/2250|336/749||,A|synonymous_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|9/18|c.807G>A|p.Thr269Thr|1094/2359|807/1791|269/596||,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.-1G>A|||||766|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.-1G>A|||||792|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.-1G>A|||||854|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.-1G>A|||||1828|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1G>A|||||1903|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1G>A|||||2142|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2G>A|||||2309|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387C>T|||||3796|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086G>A|||||262|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988C>T|||||3797|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243C>T|||||3805|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003C>T|||||3817|,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|10/20|n.1169G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|6/9|n.985G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron|2/7|n.159G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron|1/6|n.48G>A|||||| 22 40802567 . C G . . ANN=G|synonymous_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|10/22|c.1086C>G|p.Thr362Thr|1275/2969|1086/2250|362/749||,G|synonymous_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|9/18|c.885C>G|p.Thr295Thr|1172/2359|885/1791|295/596||,G|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.-1C>G|||||688|,G|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.-1C>G|||||714|,G|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.-1C>G|||||776|,G|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.-1C>G|||||1750|WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1C>G|||||1825|,G|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1C>G|||||2064|,G|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2C>G|||||2231|,G|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387G>C|||||3718|,G|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086C>G|||||340|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988G>C|||||3719|,G|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243G>C|||||3727|,G|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003G>C|||||3739|,G|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|10/20|n.1247C>G||||||,G|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|6/9|n.1063C>G||||||,G|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron|2/7|n.237C>G||||||,G|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron|1/6|n.126C>G|||||| 22 40802577 . G A . . ANN=A|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|10/22|c.1096G>A|p.Val366Met|1285/2969|1096/2250|366/749||,A|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|9/18|c.895G>A|p.Val299Met|1182/2359|895/1791|299/596||,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.-1G>A|||||678|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.-1G>A|||||704|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.-1G>A|||||766|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.-1G>A|||||1740|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1G>A|||||1815|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1G>A|||||2054|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2G>A|||||2221|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387C>T|||||3708|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086G>A|||||350|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988C>T|||||3709|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243C>T|||||3717|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003C>T|||||3729|,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|10/20|n.1257G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|6/9|n.1073G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron|2/7|n.247G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron|1/6|n.136G>A|||||| 22 40802642 . C T . . ANN=T|synonymous_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|10/22|c.1161C>T|p.Ala387Ala|1350/2969|1161/2250|387/749||,T|synonymous_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|9/18|c.960C>T|p.Ala320Ala|1247/2359|960/1791|320/596||,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.-1C>T|||||613|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.-1C>T|||||639|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.-1C>T|||||701|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.-1C>T|||||1675|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1C>T|||||1750|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1C>T|||||1989|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2C>T|||||2156|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387G>A|||||3643|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086C>T|||||415|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988G>A|||||3644|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243G>A|||||3652|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003G>A|||||3664|,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|10/20|n.1322C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|6/9|n.1138C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron|2/7|n.312C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron|1/6|n.201C>T|||||| 22 40803041 . G A . . ANN=A|synonymous_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|11/22|c.1206G>A|p.Gln402Gln|1395/2969|1206/2250|402/749||,A|synonymous_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|10/18|c.1005G>A|p.Gln335Gln|1292/2359|1005/1791|335/596||,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.-1G>A|||||214|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.-1G>A|||||240|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.-1G>A|||||302|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.-1G>A|||||1276|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1G>A|||||1351|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1G>A|||||1590|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2G>A|||||1757|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387C>T|||||3244|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086G>A|||||814|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988C>T|||||3245|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243C>T|||||3253|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003C>T|||||3265|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524C>T|||||4802|,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|11/20|n.1367G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|6/9|n.1537G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron|3/7|n.357G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron|2/6|n.246G>A|||||| 22 40803083 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|11/21|c.1240+8C>T||||||,T|splice_region_variant&intron_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|10/17|c.1039+8C>T||||||,T|splice_region_variant&intron_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron|3/6|n.391+8C>T||||||,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.-1C>T|||||172|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.-1C>T|||||198|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.-1C>T|||||260|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.-1C>T|||||1234|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1C>T|||||1309|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1C>T|||||1548|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2C>T|||||1715|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387G>A|||||3202|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086C>T|||||856|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988G>A|||||3203|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243G>A|||||3211|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003G>A|||||3223|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524G>A|||||4760|,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|11/20|n.1409C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|6/9|n.1579C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron|2/6|n.288C>T|||||| 22 40803089 . G A . . ANN=A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.-1G>A|||||166|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.-1G>A|||||192|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.-1G>A|||||254|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.-1G>A|||||1228|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1G>A|||||1303|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1G>A|||||1542|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2G>A|||||1709|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387C>T|||||3196|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086G>A|||||862|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988C>T|||||3197|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243C>T|||||3205|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003C>T|||||3217|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524C>T|||||4754|,A|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|11/21|c.1240+14G>A||||||,A|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|10/17|c.1039+14G>A||||||,A|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron|3/6|n.391+14G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|11/20|n.1415G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|6/9|n.1585G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron|2/6|n.294G>A|||||| 22 40803104 . T C . . ANN=C|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.-1T>C|||||151|,C|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.-1T>C|||||177|,C|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.-1T>C|||||239|,C|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.-1T>C|||||1213|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1T>C|||||1288|,C|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1T>C|||||1527|,C|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2T>C|||||1694|,C|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387A>G|||||3181|,C|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086T>C|||||877|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988A>G|||||3182|,C|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243A>G|||||3190|,C|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003A>G|||||3202|,C|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524A>G|||||4739|,C|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|11/21|c.1240+29T>C||||||,C|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|10/17|c.1039+29T>C||||||,C|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron|3/6|n.391+29T>C||||||,C|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|11/20|n.1430T>C||||||,C|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|6/9|n.1600T>C||||||,C|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron|2/6|n.309T>C|||||| 22 40803112 . C T . . ANN=T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.-1C>T|||||143|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.-1C>T|||||169|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.-1C>T|||||231|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.-1C>T|||||1205|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1C>T|||||1280|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1C>T|||||1519|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2C>T|||||1686|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387G>A|||||3173|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086C>T|||||885|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988G>A|||||3174|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243G>A|||||3182|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003G>A|||||3194|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524G>A|||||4731|,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|11/21|c.1240+37C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|10/17|c.1039+37C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron|3/6|n.391+37C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|11/20|n.1438C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|6/9|n.1608C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron|2/6|n.317C>T|||||| 22 40803186 . G T . . ANN=T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.-1G>T|||||69|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.-1G>T|||||95|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.-1G>T|||||157|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.-1G>T|||||1131|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1G>T|||||1206|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1G>T|||||1445|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2G>T|||||1612|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387C>A|||||3099|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086G>T|||||959|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988C>A|||||3100|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243C>A|||||3108|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003C>A|||||3120|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524C>A|||||4657|,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|11/21|c.1241-19G>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|10/17|c.1040-19G>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron|3/6|n.392-19G>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|11/20|n.1512G>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|6/9|n.1682G>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron|2/6|n.391G>T|||||| 22 40803230 . G A . . ANN=A|synonymous_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|12/22|c.1266G>A|p.Lys422Lys|1455/2969|1266/2250|422/749||,A|synonymous_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|11/18|c.1065G>A|p.Lys355Lys|1352/2359|1065/1791|355/596||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|coiled-coil_region|ENST00000248929|protein_coding|12/22|c.1266G>A||||||,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.-1G>A|||||25|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.-1G>A|||||51|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.-1G>A|||||113|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.-1G>A|||||1087|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1G>A|||||1162|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1G>A|||||1401|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2G>A|||||1568|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387C>T|||||3055|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086G>A|||||1003|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988C>T|||||3056|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243C>T|||||3064|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003C>T|||||3076|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524C>T|||||4613|,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|11/20|n.1556G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|6/9|n.1726G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron|4/7|n.417G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron|2/6|n.435G>A|||||| 22 40803367 . C T . . ANN=T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.-1C>T|||||950|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1C>T|||||1025|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1C>T|||||1264|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2C>T|||||1431|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387G>A|||||2918|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086C>T|||||1140|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988G>A|||||2919|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243G>A|||||2927|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003G>A|||||2939|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524G>A|||||4476|,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|12/21|c.1368+35C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|11/17|c.1167+35C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron|2/5|n.537+35C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron|1/1|n.78+35C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|11/20|n.1693C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|6/9|n.1863C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron|4/7|n.554C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron|1/7|n.87C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron|1/4|n.25C>T|||||| 22 40803454 . G A . . ANN=A|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|13/22|c.1406G>A|p.Arg469Gln|1595/2969|1406/2250|469/749||,A|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|12/18|c.1205G>A|p.Arg402Gln|1492/2359|1205/1791|402/596||,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.-1G>A|||||863|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1G>A|||||938|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1G>A|||||1177|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2G>A|||||1344|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387C>T|||||2831|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086G>A|||||1227|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988C>T|||||2832|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243C>T|||||2840|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003C>T|||||2852|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524C>T|||||4389|,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|11/20|n.1780G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|6/9|n.1950G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron|4/7|n.641G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron|3/6|n.575G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron|2/2|n.116G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron|1/7|n.174G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron|1/4|n.112G>A|||||| 22 40803584 . C T . . ANN=T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:SH3|ENST00000248929|protein_coding|15/22|c.1524+12C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:SH3|ENST00000248929|protein_coding|14/22|c.1524+12C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:SH3|ENST00000248929|protein_coding|13/22|c.1524+12C>T||||||,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.-1C>T|||||733|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1C>T|||||808|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1C>T|||||1047|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2C>T|||||1214|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387G>A|||||2701|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086C>T|||||1357|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988G>A|||||2702|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243G>A|||||2710|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003G>A|||||2722|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524G>A|||||4259|,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|13/21|c.1524+12C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|12/17|c.1323+12C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|11/19|n.1898+12C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron|4/6|n.759+12C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron|3/5|n.693+12C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron|1/6|n.292+12C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|6/9|n.2080C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron|2/2|n.246C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron|1/4|n.242C>T|||||| 22 40803782 . C T . . ANN=T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:SH3|ENST00000248929|protein_coding|15/22|c.1525-11C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:SH3|ENST00000248929|protein_coding|14/22|c.1525-11C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:SH3|ENST00000248929|protein_coding|13/22|c.1525-11C>T||||||,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.-1C>T|||||535|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1C>T|||||610|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1C>T|||||849|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2C>T|||||1016|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387G>A|||||2503|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086C>T|||||1555|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.*367C>T|||||77|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988G>A|||||2504|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243G>A|||||2512|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003G>A|||||2524|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524G>A|||||4061|,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|13/21|c.1525-11C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|12/17|c.1324-11C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|11/19|n.1899-11C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron|4/6|n.760-11C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron|3/5|n.694-11C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron|1/6|n.293-11C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|6/9|n.2278C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron|1/4|n.440C>T|||||| 22 40803845 . G A . . ANN=A|missense_variant&splice_region_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|14/22|c.1577G>A|p.Arg526Gln|1766/2969|1577/2250|526/749||,A|missense_variant&splice_region_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|13/18|c.1376G>A|p.Arg459Gln|1663/2359|1376/1791|459/596||,A|splice_region_variant&non_coding_exon_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|12/20|n.1951G>A||||||,A|splice_region_variant&non_coding_exon_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron|5/7|n.812G>A||||||,A|splice_region_variant&non_coding_exon_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron|4/6|n.746G>A||||||,A|splice_region_variant&non_coding_exon_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron|2/7|n.345G>A||||||,A|splice_region_variant&non_coding_exon_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron|1/4|n.503G>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:SH3|ENST00000248929|protein_coding|15/22|c.1577G>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:SH3|ENST00000248929|protein_coding|14/22|c.1577G>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:SH3|ENST00000248929|protein_coding|13/22|c.1577G>A||||||,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.-1G>A|||||472|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1G>A|||||547|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1G>A|||||786|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2G>A|||||953|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387C>T|||||2440|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086G>A|||||1618|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.*367G>A|||||140|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988C>T|||||2441|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243C>T|||||2449|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003C>T|||||2461|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524C>T|||||3998|,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|6/9|n.2341G>A|||||| 22 40804033 . G T . . ANN=T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:SH3|ENST00000248929|protein_coding|15/22|c.1580-42G>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:SH3|ENST00000248929|protein_coding|14/22|c.1580-42G>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:SH3|ENST00000248929|protein_coding|13/22|c.1580-42G>T||||||,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.-1G>T|||||284|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1G>T|||||359|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1G>T|||||598|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2G>T|||||765|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387C>A|||||2252|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086G>T|||||1806|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.*367G>T|||||328|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988C>A|||||2253|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243C>A|||||2261|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003C>A|||||2273|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524C>A|||||3810|,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|14/21|c.1580-42G>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|13/17|c.1379-42G>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|12/19|n.1954-42G>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron|5/6|n.815-42G>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron|4/5|n.749-42G>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron|2/6|n.348-42G>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron|1/3|n.506-42G>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|6/9|n.2529G>T|||||| 22 40804078 . G A . . ANN=A|stop_gained|HIGH|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|15/22|c.1583G>A|p.Trp528*|1772/2969|1583/2250|528/749||,A|stop_gained|HIGH|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|14/18|c.1382G>A|p.Trp461*|1669/2359|1382/1791|461/596||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:SH3|ENST00000248929|protein_coding|15/22|c.1583G>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:SH3|ENST00000248929|protein_coding|14/22|c.1583G>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:SH3|ENST00000248929|protein_coding|13/22|c.1583G>A||||||,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.-1G>A|||||239|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1G>A|||||314|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1G>A|||||553|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2G>A|||||720|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387C>T|||||2207|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086G>A|||||1851|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.*367G>A|||||373|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988C>T|||||2208|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243C>T|||||2216|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003C>T|||||2228|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524C>T|||||3765|,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|13/20|n.1957G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|6/9|n.2574G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron|6/7|n.818G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron|5/6|n.752G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron|3/7|n.351G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron|2/4|n.509G>A||||||;LOF=(SGSM3|ENSG00000100359|14|0.14);NMD=(SGSM3|ENSG00000100359|14|0.14) 22 40804150 . C T . . ANN=T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.-1C>T|||||167|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1C>T|||||242|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1C>T|||||481|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2C>T|||||648|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387G>A|||||2135|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086C>T|||||1923|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.*367C>T|||||445|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988G>A|||||2136|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243G>A|||||2144|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003G>A|||||2156|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524G>A|||||3693|,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|15/21|c.1629+26C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|14/17|c.1428+26C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|13/19|n.2003+26C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron|6/6|n.864+26C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron|5/5|n.798+26C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron|3/6|n.397+26C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron|2/3|n.555+26C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|6/9|n.2646C>T|||||| 22 40804164 . C G . . ANN=G|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.-1C>G|||||153|WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1C>G|||||228|,G|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1C>G|||||467|,G|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2C>G|||||634|,G|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387G>C|||||2121|,G|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086C>G|||||1937|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.*367C>G|||||459|,G|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988G>C|||||2122|,G|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243G>C|||||2130|,G|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003G>C|||||2142|,G|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524G>C|||||3679|,G|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|15/21|c.1629+40C>G||||||,G|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|14/17|c.1428+40C>G||||||,G|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|13/19|n.2003+40C>G||||||,G|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron|6/6|n.864+40C>G||||||,G|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron|5/5|n.798+40C>G||||||,G|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron|3/6|n.397+40C>G||||||,G|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron|2/3|n.555+40C>G||||||,G|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|6/9|n.2660C>G|||||| 22 40804168 . C T . . ANN=T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.-1C>T|||||149|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1C>T|||||224|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1C>T|||||463|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2C>T|||||630|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387G>A|||||2117|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086C>T|||||1941|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.*367C>T|||||463|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988G>A|||||2118|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243G>A|||||2126|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003G>A|||||2138|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524G>A|||||3675|,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|15/21|c.1629+44C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|14/17|c.1428+44C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|13/19|n.2003+44C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron|6/6|n.864+44C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron|5/5|n.798+44C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron|3/6|n.397+44C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron|2/3|n.555+44C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|6/9|n.2664C>T|||||| 22 40804286 . C G . . ANN=G|synonymous_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|16/22|c.1635C>G|p.Ser545Ser|1824/2969|1635/2250|545/749||,G|synonymous_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|15/18|c.1434C>G|p.Ser478Ser|1721/2359|1434/1791|478/596||,G|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.-1C>G|||||31|WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1C>G|||||106|,G|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1C>G|||||345|,G|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2C>G|||||512|,G|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387G>C|||||1999|,G|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086C>G|||||2059|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.*367C>G|||||581|,G|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988G>C|||||2000|,G|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243G>C|||||2008|,G|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003G>C|||||2020|,G|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524G>C|||||3557|,G|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|14/20|n.2009C>G||||||,G|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|6/9|n.2782C>G||||||,G|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron|7/7|n.870C>G||||||,G|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron|6/6|n.804C>G||||||,G|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron|4/7|n.403C>G||||||,G|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron|3/4|n.561C>G|||||| 22 40804348 . C T . . ANN=T|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|16/22|c.1697C>T|p.Pro566Leu|1886/2969|1697/2250|566/749||,T|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|15/18|c.1496C>T|p.Pro499Leu|1783/2359|1496/1791|499/596||,T|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding|1/6|c.32C>T|p.Pro11Leu|32/793|32/639|11/212||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|20/22|c.1697C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|18/22|c.1697C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|19/22|c.1697C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|16/22|c.1697C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|21/22|c.1697C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|17/22|c.1697C>T||||||,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1C>T|||||44|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1C>T|||||283|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2C>T|||||450|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387G>A|||||1937|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086C>T|||||2121|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.*367C>T|||||643|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988G>A|||||1938|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243G>A|||||1946|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003G>A|||||1958|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524G>A|||||3495|,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|14/20|n.2071C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|6/9|n.2844C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron|7/7|n.932C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron|6/6|n.866C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron|4/7|n.465C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron|3/4|n.623C>T|||||| 22 40804356 . A G . . ANN=G|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|16/22|c.1705A>G|p.Lys569Glu|1894/2969|1705/2250|569/749||,G|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|15/18|c.1504A>G|p.Lys502Glu|1791/2359|1504/1791|502/596||,G|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding|1/6|c.40A>G|p.Lys14Glu|40/793|40/639|14/212||WARNING_TRANSCRIPT_NO_START_CODON,G|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|20/22|c.1705A>G||||||,G|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|18/22|c.1705A>G||||||,G|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|19/22|c.1705A>G||||||,G|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|16/22|c.1705A>G||||||,G|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|21/22|c.1705A>G||||||,G|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|17/22|c.1705A>G||||||,G|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1A>G|||||36|,G|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1A>G|||||275|,G|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2A>G|||||442|,G|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387T>C|||||1929|,G|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086A>G|||||2129|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.*367A>G|||||651|,G|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988T>C|||||1930|,G|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243T>C|||||1938|,G|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003T>C|||||1950|,G|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524T>C|||||3487|,G|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|14/20|n.2079A>G||||||,G|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|6/9|n.2852A>G||||||,G|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron|7/7|n.940A>G||||||,G|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron|6/6|n.874A>G||||||,G|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron|4/7|n.473A>G||||||,G|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron|3/4|n.631A>G|||||| 22 40804412 . C T . . ANN=T|splice_region_variant&non_coding_exon_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron|7/7|n.996C>T||||||,T|synonymous_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|16/22|c.1761C>T|p.His587His|1950/2969|1761/2250|587/749||,T|synonymous_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|15/18|c.1560C>T|p.His520His|1847/2359|1560/1791|520/596||,T|synonymous_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding|1/6|c.96C>T|p.His32His|96/793|96/639|32/212||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|20/22|c.1761C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|18/22|c.1761C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|19/22|c.1761C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|16/22|c.1761C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|21/22|c.1761C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|17/22|c.1761C>T||||||,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1C>T|||||219|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2C>T|||||386|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387G>A|||||1873|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086C>T|||||2185|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.*367C>T|||||707|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988G>A|||||1874|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243G>A|||||1882|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003G>A|||||1894|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524G>A|||||3431|,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|14/20|n.2135C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|6/9|n.2908C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron|6/6|n.930C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron|4/7|n.529C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron|3/4|n.687C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron|1/6|n.21C>T|||||| 22 40804428 . G A . . ANN=A|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|16/22|c.1777G>A|p.Glu593Lys|1966/2969|1777/2250|593/749||,A|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|15/18|c.1576G>A|p.Glu526Lys|1863/2359|1576/1791|526/596||,A|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding|1/6|c.112G>A|p.Glu38Lys|112/793|112/639|38/212||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|20/22|c.1777G>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|18/22|c.1777G>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|19/22|c.1777G>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|16/22|c.1777G>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|21/22|c.1777G>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|17/22|c.1777G>A||||||,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1G>A|||||203|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2G>A|||||370|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387C>T|||||1857|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086G>A|||||2201|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.*997G>A|||||15|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.*367G>A|||||723|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988C>T|||||1858|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243C>T|||||1866|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003C>T|||||1878|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524C>T|||||3415|,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|14/20|n.2151G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|6/9|n.2924G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron|6/6|n.946G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron|4/7|n.545G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron|3/4|n.703G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron|1/6|n.37G>A|||||| 22 40804448 . G A . . ANN=A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|20/22|c.1782+15G>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|18/22|c.1782+15G>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|19/22|c.1782+15G>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|16/22|c.1782+15G>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|21/22|c.1782+15G>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|17/22|c.1782+15G>A||||||,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1G>A|||||183|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2G>A|||||350|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387C>T|||||1837|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086G>A|||||2221|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.*997G>A|||||35|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.*951G>A|||||15|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.*367G>A|||||743|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988C>T|||||1838|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243C>T|||||1846|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003C>T|||||1858|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524C>T|||||3395|,A|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|16/21|c.1782+15G>A||||||,A|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|15/17|c.1581+15G>A||||||,A|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|14/19|n.2156+15G>A||||||,A|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|6/8|n.2929+15G>A||||||,A|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron|4/6|n.550+15G>A||||||,A|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron|3/3|n.708+15G>A||||||,A|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding|1/5|c.117+15G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron|1/5|n.42+15G>A|||||| 22 40804597 . G A . . ANN=A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|20/22|c.1783-34G>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|18/22|c.1783-34G>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|19/22|c.1783-34G>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|16/22|c.1783-34G>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|21/22|c.1783-34G>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|17/22|c.1783-34G>A||||||,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1G>A|||||34|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2G>A|||||201|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387C>T|||||1688|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086G>A|||||2370|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.*997G>A|||||184|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.*951G>A|||||164|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.*367G>A|||||892|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988C>T|||||1689|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243C>T|||||1697|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003C>T|||||1709|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524C>T|||||3246|,A|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|16/21|c.1783-34G>A||||||,A|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|15/17|c.1582-34G>A||||||,A|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|14/19|n.2157-34G>A||||||,A|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|6/8|n.2930-34G>A||||||,A|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron|4/6|n.551-34G>A||||||,A|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron|3/3|n.709-34G>A||||||,A|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding|1/5|c.118-34G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron|1/5|n.43-34G>A|||||| 22 40804648 . C T . . ANN=T|synonymous_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|17/22|c.1800C>T|p.Val600Val|1989/2969|1800/2250|600/749||,T|synonymous_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|16/18|c.1599C>T|p.Val533Val|1886/2359|1599/1791|533/596||,T|synonymous_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding|2/6|c.135C>T|p.Val45Val|135/793|135/639|45/212||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|20/22|c.1800C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|18/22|c.1800C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|19/22|c.1800C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|16/22|c.1800C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|21/22|c.1800C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|17/22|c.1800C>T||||||,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2C>T|||||150|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387G>A|||||1637|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086C>T|||||2421|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.*997C>T|||||235|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.*951C>T|||||215|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.*367C>T|||||943|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988G>A|||||1638|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243G>A|||||1646|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003G>A|||||1658|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524G>A|||||3195|,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|15/20|n.2174C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|7/9|n.2947C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron|5/7|n.568C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron|4/4|n.726C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron|2/6|n.60C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron|1/4|n.18C>T|||||| 22 40804825 . C A . . ANN=A|synonymous_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|18/22|c.1881C>A|p.Thr627Thr|2070/2969|1881/2250|627/749||,A|synonymous_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|17/18|c.1680C>A|p.Thr560Thr|1967/2359|1680/1791|560/596||,A|synonymous_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding|3/6|c.216C>A|p.Thr72Thr|216/793|216/639|72/212||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding|1/5|c.27C>A|p.Thr9Thr|28/666|27/306|9/101||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|20/22|c.1881C>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|18/22|c.1881C>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|19/22|c.1881C>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|16/22|c.1881C>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|21/22|c.1881C>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|17/22|c.1881C>A||||||,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387G>T|||||1460|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086C>A|||||2598|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.*997C>A|||||412|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.*951C>A|||||392|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.*367C>A|||||1120|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.*769C>A|||||134|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988G>T|||||1461|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243G>T|||||1469|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003G>T|||||1481|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524G>T|||||3018|,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|16/20|n.2255C>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|8/9|n.3028C>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron|6/7|n.649C>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron|3/6|n.141C>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron|2/4|n.99C>A|||||| 22 40804844 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|18/22|c.1900C>T|p.Arg634Trp|2089/2969|1900/2250|634/749||,T|missense_variant&splice_region_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|17/18|c.1699C>T|p.Arg567Trp|1986/2359|1699/1791|567/596||,T|missense_variant&splice_region_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding|3/6|c.235C>T|p.Arg79Trp|235/793|235/639|79/212||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant&splice_region_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding|1/5|c.46C>T|p.Arg16Trp|47/666|46/306|16/101||,T|splice_region_variant&non_coding_exon_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|16/20|n.2274C>T||||||,T|splice_region_variant&non_coding_exon_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron|6/7|n.668C>T||||||,T|splice_region_variant&non_coding_exon_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron|3/6|n.160C>T||||||,T|splice_region_variant&non_coding_exon_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron|2/4|n.118C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|20/22|c.1900C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|18/22|c.1900C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|19/22|c.1900C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|16/22|c.1900C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|21/22|c.1900C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|17/22|c.1900C>T||||||,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387G>A|||||1441|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086C>T|||||2617|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.*997C>T|||||431|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.*951C>T|||||411|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.*367C>T|||||1139|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.*769C>T|||||153|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988G>A|||||1442|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243G>A|||||1450|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003G>A|||||1462|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524G>A|||||2999|,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|8/9|n.3047C>T|||||| 22 40804901 . G A . . ANN=A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|20/22|c.1903-36G>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|18/22|c.1903-36G>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|19/22|c.1903-36G>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|16/22|c.1903-36G>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|21/22|c.1903-36G>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|17/22|c.1903-36G>A||||||,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387C>T|||||1384|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086G>A|||||2674|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.*997G>A|||||488|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.*951G>A|||||468|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.*367G>A|||||1196|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.*769G>A|||||210|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988C>T|||||1385|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243C>T|||||1393|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003C>T|||||1405|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524C>T|||||2942|,A|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|18/21|c.1903-36G>A||||||,A|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|17/17|c.1702-36G>A||||||,A|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|16/19|n.2277-36G>A||||||,A|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron|6/6|n.671-36G>A||||||,A|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding|3/5|c.238-36G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron|3/5|n.163-36G>A||||||,A|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron|2/3|n.121-36G>A||||||,A|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding|1/4|c.49-36G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|8/9|n.3104G>A|||||| 22 40804922 . C T . . ANN=T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|20/22|c.1903-15C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|18/22|c.1903-15C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|19/22|c.1903-15C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|16/22|c.1903-15C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|21/22|c.1903-15C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|17/22|c.1903-15C>T||||||,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387G>A|||||1363|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086C>T|||||2695|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.*997C>T|||||509|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.*951C>T|||||489|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.*367C>T|||||1217|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.*769C>T|||||231|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988G>A|||||1364|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243G>A|||||1372|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003G>A|||||1384|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524G>A|||||2921|,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|18/21|c.1903-15C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|17/17|c.1702-15C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|16/19|n.2277-15C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron|6/6|n.671-15C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding|3/5|c.238-15C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron|3/5|n.163-15C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron|2/3|n.121-15C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding|1/4|c.49-15C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|8/9|n.3125C>T|||||| 22 40804932 . C A . . ANN=A|splice_region_variant&intron_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|18/21|c.1903-5C>A||||||,A|splice_region_variant&intron_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|17/17|c.1702-5C>A||||||,A|splice_region_variant&intron_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|16/19|n.2277-5C>A||||||,A|splice_region_variant&intron_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron|6/6|n.671-5C>A||||||,A|splice_region_variant&intron_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding|3/5|c.238-5C>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|splice_region_variant&intron_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron|3/5|n.163-5C>A||||||,A|splice_region_variant&intron_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron|2/3|n.121-5C>A||||||,A|splice_region_variant&intron_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding|1/4|c.49-5C>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|20/22|c.1903-5C>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|18/22|c.1903-5C>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|19/22|c.1903-5C>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|16/22|c.1903-5C>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|21/22|c.1903-5C>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|17/22|c.1903-5C>A||||||,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387G>T|||||1353|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086C>A|||||2705|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.*997C>A|||||519|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.*951C>A|||||499|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.*367C>A|||||1227|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.*769C>A|||||241|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988G>T|||||1354|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243G>T|||||1362|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003G>T|||||1374|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524G>T|||||2911|,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|8/9|n.3135C>A|||||| 22 40804954 . C T . . ANN=T|synonymous_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|19/22|c.1920C>T|p.Asn640Asn|2109/2969|1920/2250|640/749||,T|synonymous_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|18/18|c.1719C>T|p.Asn573Asn|2006/2359|1719/1791|573/596||,T|synonymous_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding|4/6|c.255C>T|p.Asn85Asn|255/793|255/639|85/212||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding|2/5|c.66C>T|p.Asn22Asn|67/666|66/306|22/101||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|20/22|c.1920C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|18/22|c.1920C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|19/22|c.1920C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|16/22|c.1920C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|21/22|c.1920C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|17/22|c.1920C>T||||||,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387G>A|||||1331|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086C>T|||||2727|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.*997C>T|||||541|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.*951C>T|||||521|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.*367C>T|||||1249|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.*769C>T|||||263|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988G>A|||||1332|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243G>A|||||1340|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003G>A|||||1352|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524G>A|||||2889|,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|17/20|n.2294C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|8/9|n.3157C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron|7/7|n.688C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron|4/6|n.180C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron|3/4|n.138C>T|||||| 22 40805230 . C T . . ANN=T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|20/22|c.1989-24C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|18/22|c.1989-24C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|19/22|c.1989-24C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|16/22|c.1989-24C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|21/22|c.1989-24C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|17/22|c.1989-24C>T||||||,T|3_prime_UTR_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|18/18|c.*204C>T|||||204|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387G>A|||||1055|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086C>T|||||3003|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.*997C>T|||||817|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.*951C>T|||||797|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.*367C>T|||||1525|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.*854C>T|||||110|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.*769C>T|||||539|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988G>A|||||1056|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243G>A|||||1064|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003G>A|||||1076|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524G>A|||||2613|,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|19/21|c.1989-24C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|17/19|n.2363-24C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding|4/5|c.324-24C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding|2/4|c.135-114C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|8/9|n.3433C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron|4/6|n.456C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron|3/4|n.414C>T|||||| 22 40805231 . C T . . ANN=T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|20/22|c.1989-23C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|18/22|c.1989-23C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|19/22|c.1989-23C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|16/22|c.1989-23C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|21/22|c.1989-23C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|17/22|c.1989-23C>T||||||,T|3_prime_UTR_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|18/18|c.*205C>T|||||205|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387G>A|||||1054|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086C>T|||||3004|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.*997C>T|||||818|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.*951C>T|||||798|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.*367C>T|||||1526|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.*854C>T|||||111|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.*769C>T|||||540|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988G>A|||||1055|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243G>A|||||1063|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003G>A|||||1075|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524G>A|||||2612|,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|19/21|c.1989-23C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|17/19|n.2363-23C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding|4/5|c.324-23C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding|2/4|c.135-113C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|8/9|n.3434C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron|4/6|n.457C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron|3/4|n.415C>T|||||| 22 40805242 . C T . . ANN=T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|20/22|c.1989-12C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|18/22|c.1989-12C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|19/22|c.1989-12C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|16/22|c.1989-12C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|21/22|c.1989-12C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|17/22|c.1989-12C>T||||||,T|3_prime_UTR_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|18/18|c.*216C>T|||||216|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387G>A|||||1043|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086C>T|||||3015|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.*997C>T|||||829|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.*951C>T|||||809|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.*367C>T|||||1537|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.*854C>T|||||122|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.*769C>T|||||551|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988G>A|||||1044|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243G>A|||||1052|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003G>A|||||1064|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524G>A|||||2601|,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|19/21|c.1989-12C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|17/19|n.2363-12C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding|4/5|c.324-12C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding|2/4|c.135-102C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|8/9|n.3445C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron|4/6|n.468C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron|3/4|n.426C>T|||||| 22 40805305 . C T . . ANN=T|splice_region_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|18/18|c.*279C>T||||||,T|synonymous_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|20/22|c.2040C>T|p.Thr680Thr|2229/2969|2040/2250|680/749||,T|synonymous_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding|5/6|c.375C>T|p.Thr125Thr|375/793|375/639|125/212||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|20/22|c.2040C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|18/22|c.2040C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|19/22|c.2040C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|16/22|c.2040C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|21/22|c.2040C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|17/22|c.2040C>T||||||,T|3_prime_UTR_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|18/18|c.*279C>T|||||279|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387G>A|||||980|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086C>T|||||3078|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.*997C>T|||||892|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.*951C>T|||||872|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.*367C>T|||||1600|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.*854C>T|||||185|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.*769C>T|||||614|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988G>A|||||981|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243G>A|||||989|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003G>A|||||1001|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524G>A|||||2538|,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding|2/4|c.135-39C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|18/20|n.2414C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|8/9|n.3508C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron|4/6|n.531C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron|3/4|n.489C>T|||||| 22 40805320 . C T . . ANN=T|synonymous_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|20/22|c.2055C>T|p.Tyr685Tyr|2244/2969|2055/2250|685/749||,T|synonymous_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding|5/6|c.390C>T|p.Tyr130Tyr|390/793|390/639|130/212||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|20/22|c.2055C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|18/22|c.2055C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|19/22|c.2055C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|16/22|c.2055C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|21/22|c.2055C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|17/22|c.2055C>T||||||,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387G>A|||||965|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086C>T|||||3093|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding||c.*2078C>T|||||13|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.*997C>T|||||907|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.*951C>T|||||887|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.*367C>T|||||1615|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.*854C>T|||||200|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.*769C>T|||||629|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988G>A|||||966|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243G>A|||||974|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003G>A|||||986|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524G>A|||||2523|,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding|2/4|c.135-24C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|18/20|n.2429C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|8/9|n.3523C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron|4/6|n.546C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron|3/4|n.504C>T|||||| 22 40805448 . C G . . ANN=G|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|20/22|c.2112-21C>G||||||,G|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|18/22|c.2112-21C>G||||||,G|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|19/22|c.2112-21C>G||||||,G|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|16/22|c.2112-21C>G||||||,G|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|21/22|c.2112-21C>G||||||,G|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|17/22|c.2112-21C>G||||||,G|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387G>C|||||837|,G|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086C>G|||||3221|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding||c.*2078C>G|||||141|,G|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.*997C>G|||||1035|,G|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.*951C>G|||||1015|,G|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.*367C>G|||||1743|,G|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.*854C>G|||||328|,G|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.*769C>G|||||757|,G|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988G>C|||||838|,G|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243G>C|||||846|,G|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003G>C|||||858|,G|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524G>C|||||2395|,G|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|20/21|c.2112-21C>G||||||,G|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|18/19|n.2486-21C>G||||||,G|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|8/8|n.3580-21C>G||||||,G|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding|5/5|c.447-21C>G||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron|4/5|n.603-21C>G||||||,G|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron|3/3|n.561-21C>G||||||,G|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding|3/4|c.168-21C>G|||||| 22 40805470 . G A . . ANN=A|missense_variant&splice_region_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|21/22|c.2113G>A|p.Val705Ile|2302/2969|2113/2250|705/749||,A|missense_variant&splice_region_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding|6/6|c.448G>A|p.Val150Ile|448/793|448/639|150/212||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant&splice_region_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding|4/5|c.169G>A|p.Val57Ile|170/666|169/306|57/101||,A|splice_region_variant&non_coding_exon_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|19/20|n.2487G>A||||||,A|splice_region_variant&non_coding_exon_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|9/9|n.3581G>A||||||,A|splice_region_variant&non_coding_exon_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron|5/6|n.604G>A||||||,A|splice_region_variant&non_coding_exon_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron|4/4|n.562G>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|20/22|c.2113G>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|18/22|c.2113G>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|19/22|c.2113G>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|16/22|c.2113G>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|21/22|c.2113G>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|17/22|c.2113G>A||||||,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387C>T|||||815|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086G>A|||||3243|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding||c.*2078G>A|||||163|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.*997G>A|||||1057|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.*951G>A|||||1037|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.*367G>A|||||1765|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.*854G>A|||||350|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.*769G>A|||||779|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988C>T|||||816|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243C>T|||||824|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003C>T|||||836|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524C>T|||||2373| 22 40805512 . C T . . ANN=T|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|21/22|c.2155C>T|p.Leu719Phe|2344/2969|2155/2250|719/749||,T|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding|6/6|c.490C>T|p.Leu164Phe|490/793|490/639|164/212||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding|4/5|c.211C>T|p.Leu71Phe|212/666|211/306|71/101||,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387G>A|||||773|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086C>T|||||3285|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding||c.*2078C>T|||||205|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.*997C>T|||||1099|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.*951C>T|||||1079|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.*367C>T|||||1807|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.*854C>T|||||392|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.*769C>T|||||821|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988G>A|||||774|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243G>A|||||782|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003G>A|||||794|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524G>A|||||2331|,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|19/20|n.2529C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|9/9|n.3623C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron|5/6|n.646C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron|4/4|n.604C>T|||||| 22 40805520 . G A . . ANN=A|synonymous_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|21/22|c.2163G>A|p.Ala721Ala|2352/2969|2163/2250|721/749||,A|synonymous_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding|6/6|c.498G>A|p.Ala166Ala|498/793|498/639|166/212||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding|4/5|c.219G>A|p.Ala73Ala|220/666|219/306|73/101||,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387C>T|||||765|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086G>A|||||3293|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding||c.*2078G>A|||||213|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.*997G>A|||||1107|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.*951G>A|||||1087|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.*367G>A|||||1815|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.*854G>A|||||400|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.*769G>A|||||829|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988C>T|||||766|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243C>T|||||774|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003C>T|||||786|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524C>T|||||2323|,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|19/20|n.2537G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|9/9|n.3631G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron|5/6|n.654G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron|4/4|n.612G>A|||||| 22 40805541 . G A . . ANN=A|synonymous_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding|6/6|c.519G>A|p.Val173Val|519/793|519/639|173/212||WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387C>T|||||744|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086G>A|||||3314|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding||c.*2078G>A|||||234|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.*997G>A|||||1128|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.*951G>A|||||1108|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.*367G>A|||||1836|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.*854G>A|||||421|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.*769G>A|||||850|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988C>T|||||745|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243C>T|||||753|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003C>T|||||765|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524C>T|||||2302|,A|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|21/21|c.2172+12G>A||||||,A|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|19/19|n.2546+12G>A||||||,A|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron|5/5|n.663+12G>A||||||,A|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding|4/4|c.228+12G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|9/9|n.3652G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron|4/4|n.633G>A|||||| 22 40805569 . C G . . ANN=G|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding|6/6|c.547C>G|p.Leu183Val|547/793|547/639|183/212||WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387G>C|||||716|,G|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086C>G|||||3342|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding||c.*2078C>G|||||262|,G|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.*997C>G|||||1156|,G|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.*951C>G|||||1136|,G|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.*367C>G|||||1864|,G|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.*854C>G|||||449|,G|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.*769C>G|||||878|,G|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988G>C|||||717|,G|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243G>C|||||725|,G|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003G>C|||||737|,G|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524G>C|||||2274|,G|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|21/21|c.2172+40C>G||||||,G|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|19/19|n.2546+40C>G||||||,G|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron|5/5|n.663+40C>G||||||,G|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding|4/4|c.228+40C>G||||||,G|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|9/9|n.3680C>G||||||,G|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron|4/4|n.661C>G|||||| 22 40805648 . C T . . ANN=T|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding|6/6|c.626C>T|p.Ala209Val|626/793|626/639|209/212||WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387G>A|||||637|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086C>T|||||3421|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding||c.*2078C>T|||||341|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.*997C>T|||||1235|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.*951C>T|||||1215|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.*367C>T|||||1943|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.*854C>T|||||528|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.*769C>T|||||957|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988G>A|||||638|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243G>A|||||646|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003G>A|||||658|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524G>A|||||2195|,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|21/21|c.2173-38C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|19/19|n.2547-38C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron|5/5|n.664-38C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding|4/4|c.229-38C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|9/9|n.3759C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron|4/4|n.740C>T|||||| 22 40805657 . TGTGAG T . . ANN=|3_prime_UTR_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding|6/6|c.*3_*7delTGAGG|||||3|WARNING_TRANSCRIPT_NO_START_CODON&INFO_REALIGN_3_PRIME,|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387_*3387delCTCAC|||||627|,|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086_*1086delGTGAG|||||3431|WARNING_TRANSCRIPT_NO_STOP_CODON,|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding||c.*2078_*2078delGTGAG|||||351|,|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.*997_*997delGTGAG|||||1245|,|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.*951_*951delGTGAG|||||1225|,|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.*367_*367delGTGAG|||||1953|,|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.*854_*854delGTGAG|||||538|,|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.*769_*769delGTGAG|||||967|,|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988_*2988delCTCAC|||||628|,|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243_*3243delCTCAC|||||636|,|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003_*3003delCTCAC|||||648|,|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524_*524delCTCAC|||||2185|,|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|21/21|c.2173-22_2173-18delTGAGG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|19/19|n.2547-22_2547-18delTGAGG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron|5/5|n.664-22_664-18delTGAGG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding|4/4|c.229-22_229-18delTGAGG||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|9/9|n.3775_3779delTGAGG||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron|4/4|n.756_760delTGAGG||||||INFO_REALIGN_3_PRIME 22 40805688 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|22/22|c.2175G>A|p.Ala725Ala|2364/2969|2175/2250|725/749||,A|splice_region_variant&non_coding_exon_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|20/20|n.2549G>A||||||,A|splice_region_variant&non_coding_exon_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron|6/6|n.666G>A||||||,A|splice_region_variant&synonymous_variant|LOW|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding|5/5|c.231G>A|p.Ala77Ala|232/666|231/306|77/101||,A|3_prime_UTR_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding|6/6|c.*27G>A|||||27|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387C>T|||||597|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086G>A|||||3461|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding||c.*2078G>A|||||381|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.*997G>A|||||1275|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.*951G>A|||||1255|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.*367G>A|||||1983|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.*854G>A|||||568|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.*769G>A|||||997|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988C>T|||||598|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243C>T|||||606|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003C>T|||||618|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524C>T|||||2155|,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|9/9|n.3799G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron|4/4|n.780G>A|||||| 22 40805714 . G A . . ANN=A|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|22/22|c.2201G>A|p.Arg734Gln|2390/2969|2201/2250|734/749||,A|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding|5/5|c.257G>A|p.Arg86Gln|258/666|257/306|86/101||,A|3_prime_UTR_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding|6/6|c.*53G>A|||||53|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387C>T|||||571|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086G>A|||||3487|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding||c.*2078G>A|||||407|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.*997G>A|||||1301|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.*951G>A|||||1281|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.*367G>A|||||2009|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.*854G>A|||||594|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.*769G>A|||||1023|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988C>T|||||572|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243C>T|||||580|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003C>T|||||592|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524C>T|||||2129|,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|20/20|n.2575G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|9/9|n.3825G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron|6/6|n.692G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron|4/4|n.806G>A|||||| 22 40805799 . T G . . ANN=G|3_prime_UTR_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|22/22|c.*36T>G|||||36|,G|3_prime_UTR_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding|6/6|c.*138T>G|||||138|WARNING_TRANSCRIPT_NO_START_CODON,G|3_prime_UTR_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding|5/5|c.*36T>G|||||36|,G|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387A>C|||||486|,G|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086T>G|||||3572|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding||c.*2078T>G|||||492|,G|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.*997T>G|||||1386|,G|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.*951T>G|||||1366|,G|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.*367T>G|||||2094|,G|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.*854T>G|||||679|,G|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.*769T>G|||||1108|,G|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.*881T>G|||||10|,G|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988A>C|||||487|,G|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243A>C|||||495|,G|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003A>C|||||507|,G|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524A>C|||||2044|,G|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|20/20|n.2660T>G||||||,G|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|9/9|n.3910T>G||||||,G|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron|6/6|n.777T>G|||||| 22 40807368 . T TCCCCA . . ANN=CCCCA|3_prime_UTR_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|15/15|c.*21_*25dupTGGGG|||||25|,CCCCA|3_prime_UTR_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|15/15|c.*430_*434dupTGGGG|||||434|,CCCCA|3_prime_UTR_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|14/14|c.*21_*25dupTGGGG|||||25|,CCCCA|3_prime_UTR_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|12/12|c.*21_*25dupTGGGG|||||25|,CCCCA|upstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.-1_-1insCCCCA|||||3638|,CCCCA|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding||c.*2439_*2439insCCCCA|||||1076|,CCCCA|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding||c.*2078_*2078insCCCCA|||||2062|,CCCCA|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron||n.*2973_*2973insCCCCA|||||1257|,CCCCA|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron||n.*4218_*4218insCCCCA|||||1262|,CCCCA|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.*997_*997insCCCCA|||||2956|,CCCCA|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.*951_*951insCCCCA|||||2936|,CCCCA|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.*367_*367insCCCCA|||||3664|,CCCCA|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.*854_*854insCCCCA|||||2249|,CCCCA|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.*769_*769insCCCCA|||||2678|,CCCCA|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.*639_*639insCCCCA|||||1554|WARNING_TRANSCRIPT_NO_START_CODON,CCCCA|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.*1029_*1029insCCCCA|||||1318|,CCCCA|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.*881_*881insCCCCA|||||1580|,CCCCA|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.*307_*307insCCCCA|||||1247|,CCCCA|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524_*524dupTGGGG|||||474| 22 40807378 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|15/15|c.*16C>T|||||16|,A|3_prime_UTR_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|15/15|c.*425C>T|||||425|,A|3_prime_UTR_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|14/14|c.*16C>T|||||16|,A|3_prime_UTR_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|12/12|c.*16C>T|||||16|,A|upstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.-1G>A|||||3629|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding||c.*2439G>A|||||1085|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding||c.*2078G>A|||||2071|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron||n.*2973G>A|||||1266|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron||n.*4218G>A|||||1271|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.*997G>A|||||2965|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.*951G>A|||||2945|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.*367G>A|||||3673|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.*854G>A|||||2258|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.*769G>A|||||2687|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.*639G>A|||||1563|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.*1029G>A|||||1327|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.*881G>A|||||1589|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.*307G>A|||||1256|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524C>T|||||465| 22 40807391 . G C . . ANN=C|3_prime_UTR_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|15/15|c.*3C>G|||||3|,C|3_prime_UTR_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|15/15|c.*412C>G|||||412|,C|3_prime_UTR_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|14/14|c.*3C>G|||||3|,C|3_prime_UTR_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|12/12|c.*3C>G|||||3|,C|upstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.-1G>C|||||3616|,C|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding||c.*2439G>C|||||1098|,C|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding||c.*2078G>C|||||2084|,C|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron||n.*2973G>C|||||1279|,C|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron||n.*4218G>C|||||1284|,C|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.*997G>C|||||2978|,C|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.*951G>C|||||2958|,C|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.*367G>C|||||3686|,C|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.*854G>C|||||2271|,C|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.*769G>C|||||2700|,C|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.*639G>C|||||1576|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.*1029G>C|||||1340|,C|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.*881G>C|||||1602|,C|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.*307G>C|||||1269|,C|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524C>G|||||452| 22 40807436 . G A . . ANN=A|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|15/15|c.2754C>T|p.Leu918Leu|3345/4496|2754/2796|918/931||,A|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|14/14|c.2604C>T|p.Leu868Leu|3201/4343|2604/2646|868/881||,A|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|12/12|c.2754C>T|p.Leu918Leu|2961/4091|2754/2796|918/931||,A|3_prime_UTR_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|15/15|c.*367C>T|||||367|,A|upstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.-1G>A|||||3571|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding||c.*2439G>A|||||1143|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding||c.*2078G>A|||||2129|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron||n.*2973G>A|||||1324|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron||n.*4218G>A|||||1329|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.*997G>A|||||3023|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.*951G>A|||||3003|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.*367G>A|||||3731|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.*854G>A|||||2316|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.*769G>A|||||2745|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.*639G>A|||||1621|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.*1029G>A|||||1385|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.*881G>A|||||1647|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.*307G>A|||||1314|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524C>T|||||407| 22 40807755 . C A . . ANN=A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|15/15|c.2435G>T|p.Gly812Val|3026/4496|2435/2796|812/931||,A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|14/14|c.2285G>T|p.Gly762Val|2882/4343|2285/2646|762/881||,A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|12/12|c.2435G>T|p.Gly812Val|2642/4091|2435/2796|812/931||,A|3_prime_UTR_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|15/15|c.*48G>T|||||48|,A|upstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.-1C>A|||||3252|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding||c.*2439C>A|||||1462|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding||c.*2078C>A|||||2448|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron||n.*2973C>A|||||1643|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron||n.*4218C>A|||||1648|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.*997C>A|||||3342|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.*951C>A|||||3322|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.*367C>A|||||4050|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.*854C>A|||||2635|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.*769C>A|||||3064|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.*639C>A|||||1940|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.*1029C>A|||||1704|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.*881C>A|||||1966|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.*307C>A|||||1633|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524G>T|||||88| 22 40807775 . T C . . ANN=C|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|15/15|c.2415A>G|p.Pro805Pro|3006/4496|2415/2796|805/931||,C|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|14/14|c.2265A>G|p.Pro755Pro|2862/4343|2265/2646|755/881||,C|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|12/12|c.2415A>G|p.Pro805Pro|2622/4091|2415/2796|805/931||,C|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|11/12|c.2415A>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|12/12|c.2415A>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|10/12|c.2415A>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|9/12|c.2415A>G||||||,C|3_prime_UTR_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|15/15|c.*28A>G|||||28|,C|upstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.-1T>C|||||3232|,C|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding||c.*2439T>C|||||1482|,C|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding||c.*2078T>C|||||2468|,C|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron||n.*2973T>C|||||1663|,C|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron||n.*4218T>C|||||1668|,C|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.*997T>C|||||3362|,C|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.*951T>C|||||3342|,C|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.*367T>C|||||4070|,C|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.*854T>C|||||2655|,C|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.*769T>C|||||3084|,C|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.*639T>C|||||1960|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.*1029T>C|||||1724|,C|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.*881T>C|||||1986|,C|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.*307T>C|||||1653|,C|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524A>G|||||68| 22 40807799 . G A . . ANN=A|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|15/15|c.2391C>T|p.Leu797Leu|2982/4496|2391/2796|797/931||,A|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|14/14|c.2241C>T|p.Leu747Leu|2838/4343|2241/2646|747/881||,A|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|12/12|c.2391C>T|p.Leu797Leu|2598/4091|2391/2796|797/931||,A|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|11/12|c.2391C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|12/12|c.2391C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|10/12|c.2391C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|9/12|c.2391C>T||||||,A|3_prime_UTR_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|15/15|c.*4C>T|||||4|,A|upstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.-1G>A|||||3208|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding||c.*2439G>A|||||1506|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding||c.*2078G>A|||||2492|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron||n.*2973G>A|||||1687|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron||n.*4218G>A|||||1692|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.*997G>A|||||3386|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.*951G>A|||||3366|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.*367G>A|||||4094|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.*854G>A|||||2679|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.*769G>A|||||3108|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.*639G>A|||||1984|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.*1029G>A|||||1748|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.*881G>A|||||2010|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.*307G>A|||||1677|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524C>T|||||44| 22 40807902 . G A . . ANN=A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|15/15|c.2288C>T|p.Ala763Val|2879/4496|2288/2796|763/931||,A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|14/14|c.2138C>T|p.Ala713Val|2735/4343|2138/2646|713/881||,A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|12/12|c.2288C>T|p.Ala763Val|2495/4091|2288/2796|763/931||,A|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|15/15|c.2298C>T|p.Ser766Ser|2889/4505|2298/2397|766/798||,A|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|11/12|c.2288C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|12/12|c.2288C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|10/12|c.2288C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|9/12|c.2288C>T||||||,A|upstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.-1G>A|||||3105|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding||c.*2439G>A|||||1609|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding||c.*2078G>A|||||2595|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron||n.*2973G>A|||||1790|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron||n.*4218G>A|||||1795|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.*997G>A|||||3489|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.*951G>A|||||3469|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.*367G>A|||||4197|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.*854G>A|||||2782|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.*769G>A|||||3211|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.*639G>A|||||2087|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.*1029G>A|||||1851|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.*881G>A|||||2113|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.*307G>A|||||1780|,A|non_coding_exon_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron|3/3|n.465C>T|||||| 22 40807936 . T C . . ANN=C|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|11/12|c.2279-25A>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|12/12|c.2279-25A>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|10/12|c.2279-25A>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|9/12|c.2279-25A>G||||||,C|upstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.-1T>C|||||3071|,C|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding||c.*2439T>C|||||1643|,C|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding||c.*2078T>C|||||2629|,C|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron||n.*2973T>C|||||1824|,C|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron||n.*4218T>C|||||1829|,C|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.*997T>C|||||3523|,C|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.*951T>C|||||3503|,C|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.*367T>C|||||4231|,C|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.*854T>C|||||2816|,C|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.*769T>C|||||3245|,C|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.*639T>C|||||2121|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.*1029T>C|||||1885|,C|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.*881T>C|||||2147|,C|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.*307T>C|||||1814|,C|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|14/14|c.2279-25A>G||||||,C|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|14/14|c.2289-25A>G||||||,C|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|13/13|c.2129-25A>G||||||,C|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|11/11|c.2279-25A>G||||||,C|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron|2/2|n.456-25A>G|||||| 22 40812958 . C T . . ANN=T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|11/12|c.2278+32G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|12/12|c.2278+32G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|10/12|c.2278+32G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|9/12|c.2278+32G>A||||||,T|downstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.*443C>T|||||1509|,T|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|14/14|c.2278+32G>A||||||,T|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|14/14|c.2288+22G>A||||||,T|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|13/13|c.2128+32G>A||||||,T|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|11/11|c.2278+32G>A||||||,T|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron|2/2|n.455+32G>A|||||| 22 40812974 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|14/14|c.2288+6C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|11/12|c.2278+16C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|12/12|c.2278+16C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|10/12|c.2278+16C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|9/12|c.2278+16C>T||||||,A|downstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.*443G>A|||||1525|,A|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|14/14|c.2278+16C>T||||||,A|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|13/13|c.2128+16C>T||||||,A|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|11/11|c.2278+16C>T||||||,A|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron|2/2|n.455+16C>T|||||| 22 40813030 . C T . . ANN=T|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|14/15|c.2238G>A|p.Gln746Gln|2829/4496|2238/2796|746/931||,T|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|14/15|c.2238G>A|p.Gln746Gln|2829/4505|2238/2397|746/798||,T|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|13/14|c.2088G>A|p.Gln696Gln|2685/4343|2088/2646|696/881||,T|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|11/12|c.2238G>A|p.Gln746Gln|2445/4091|2238/2796|746/931||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|11/12|c.2238G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|12/12|c.2238G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|10/12|c.2238G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|9/12|c.2238G>A||||||,T|downstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.*443C>T|||||1581|,T|non_coding_exon_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron|2/3|n.415G>A|||||| 22 40813075 . AAG A . . ANN=|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|11/12|c.2218-27_2218-26delCT||||||,|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|12/12|c.2218-27_2218-26delCT||||||,|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|10/12|c.2218-27_2218-26delCT||||||,|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|9/12|c.2218-27_2218-26delCT||||||,|downstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.*443_*443delAG|||||1627|,|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|13/14|c.2218-27_2218-26delCT||||||,|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|13/14|c.2218-27_2218-26delCT||||||,|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|12/13|c.2068-27_2068-26delCT||||||,|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|10/11|c.2218-27_2218-26delCT||||||,|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron|1/2|n.395-27_395-26delCT|||||| 22 40813325 . G T . . ANN=T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|11/12|c.2217+20C>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|12/12|c.2217+20C>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|10/12|c.2217+20C>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|9/12|c.2217+20C>A||||||,T|downstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.*443G>T|||||1876|,T|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|13/14|c.2217+20C>A||||||,T|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|13/14|c.2217+20C>A||||||,T|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|12/13|c.2067+20C>A||||||,T|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|10/11|c.2217+20C>A||||||,T|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron|1/2|n.394+20C>A|||||| 22 40813334 . G A . . ANN=A|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|11/12|c.2217+11C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|12/12|c.2217+11C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|10/12|c.2217+11C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|9/12|c.2217+11C>T||||||,A|downstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.*443G>A|||||1885|,A|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|13/14|c.2217+11C>T||||||,A|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|13/14|c.2217+11C>T||||||,A|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|12/13|c.2067+11C>T||||||,A|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|10/11|c.2217+11C>T||||||,A|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron|1/2|n.394+11C>T|||||| 22 40814334 . C T . . ANN=T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|11/12|c.2064+44G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|12/12|c.2064+44G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|10/12|c.2064+44G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|9/12|c.2064+44G>A||||||,T|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1G>A|||||596|,T|downstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.*443C>T|||||2885|,T|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|12/14|c.2064+44G>A||||||,T|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|12/14|c.2064+44G>A||||||,T|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|11/13|c.1914+44G>A||||||,T|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|9/11|c.2064+44G>A|||||| 22 40814356 . G A . . ANN=A|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|11/12|c.2064+22C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|12/12|c.2064+22C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|10/12|c.2064+22C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|9/12|c.2064+22C>T||||||,A|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1C>T|||||618|,A|downstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.*443G>A|||||2907|,A|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|12/14|c.2064+22C>T||||||,A|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|12/14|c.2064+22C>T||||||,A|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|11/13|c.1914+22C>T||||||,A|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|9/11|c.2064+22C>T|||||| 22 40814431 . C T . . ANN=T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|12/15|c.2011G>A|p.Val671Met|2602/4496|2011/2796|671/931||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|12/15|c.2011G>A|p.Val671Met|2602/4505|2011/2397|671/798||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|11/14|c.1861G>A|p.Val621Met|2458/4343|1861/2646|621/881||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|9/12|c.2011G>A|p.Val671Met|2218/4091|2011/2796|671/931||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|11/12|c.2011G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|12/12|c.2011G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|10/12|c.2011G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|9/12|c.2011G>A||||||,T|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1G>A|||||693|,T|downstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.*443C>T|||||2982| 22 40814500 . T C . . ANN=C|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|12/15|c.1942A>G|p.Ser648Gly|2533/4496|1942/2796|648/931||,C|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|12/15|c.1942A>G|p.Ser648Gly|2533/4505|1942/2397|648/798||,C|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|11/14|c.1792A>G|p.Ser598Gly|2389/4343|1792/2646|598/881||,C|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|9/12|c.1942A>G|p.Ser648Gly|2149/4091|1942/2796|648/931||,C|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|11/12|c.1942A>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|12/12|c.1942A>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|10/12|c.1942A>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|9/12|c.1942A>G||||||,C|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1A>G|||||762|,C|downstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.*443T>C|||||3051| 22 40814533 . C T . . ANN=T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|12/15|c.1909G>A|p.Ala637Thr|2500/4496|1909/2796|637/931||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|12/15|c.1909G>A|p.Ala637Thr|2500/4505|1909/2397|637/798||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|11/14|c.1759G>A|p.Ala587Thr|2356/4343|1759/2646|587/881||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|9/12|c.1909G>A|p.Ala637Thr|2116/4091|1909/2796|637/931||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|11/12|c.1909G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|12/12|c.1909G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|10/12|c.1909G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|9/12|c.1909G>A||||||,T|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1G>A|||||795|,T|downstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.*443C>T|||||3084| 22 40814542 . G A . . ANN=A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|12/15|c.1900C>T|p.Pro634Ser|2491/4496|1900/2796|634/931||,A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|12/15|c.1900C>T|p.Pro634Ser|2491/4505|1900/2397|634/798||,A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|11/14|c.1750C>T|p.Pro584Ser|2347/4343|1750/2646|584/881||,A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|9/12|c.1900C>T|p.Pro634Ser|2107/4091|1900/2796|634/931||,A|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|11/12|c.1900C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|12/12|c.1900C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|10/12|c.1900C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|9/12|c.1900C>T||||||,A|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1C>T|||||804|,A|downstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.*443G>A|||||3093| 22 40814545 . C T . . ANN=T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|12/15|c.1897G>A|p.Glu633Lys|2488/4496|1897/2796|633/931||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|12/15|c.1897G>A|p.Glu633Lys|2488/4505|1897/2397|633/798||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|11/14|c.1747G>A|p.Glu583Lys|2344/4343|1747/2646|583/881||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|9/12|c.1897G>A|p.Glu633Lys|2104/4091|1897/2796|633/931||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|11/12|c.1897G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|12/12|c.1897G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|10/12|c.1897G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|9/12|c.1897G>A||||||,T|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1G>A|||||807|,T|downstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.*443C>T|||||3096| 22 40814594 . C T . . ANN=T|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|12/15|c.1848G>A|p.Pro616Pro|2439/4496|1848/2796|616/931||,T|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|12/15|c.1848G>A|p.Pro616Pro|2439/4505|1848/2397|616/798||,T|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|11/14|c.1698G>A|p.Pro566Pro|2295/4343|1698/2646|566/881||,T|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|9/12|c.1848G>A|p.Pro616Pro|2055/4091|1848/2796|616/931||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|11/12|c.1848G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|12/12|c.1848G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|10/12|c.1848G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|9/12|c.1848G>A||||||,T|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1G>A|||||856|,T|downstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.*443C>T|||||3145| 22 40814595 . G A . . ANN=A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|12/15|c.1847C>T|p.Pro616Leu|2438/4496|1847/2796|616/931||,A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|12/15|c.1847C>T|p.Pro616Leu|2438/4505|1847/2397|616/798||,A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|11/14|c.1697C>T|p.Pro566Leu|2294/4343|1697/2646|566/881||,A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|9/12|c.1847C>T|p.Pro616Leu|2054/4091|1847/2796|616/931||,A|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|11/12|c.1847C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|12/12|c.1847C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|10/12|c.1847C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|9/12|c.1847C>T||||||,A|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1C>T|||||857|,A|downstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.*443G>A|||||3146| 22 40814636 . C T . . ANN=T|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|12/15|c.1806G>A|p.Ala602Ala|2397/4496|1806/2796|602/931||,T|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|12/15|c.1806G>A|p.Ala602Ala|2397/4505|1806/2397|602/798||,T|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|11/14|c.1656G>A|p.Ala552Ala|2253/4343|1656/2646|552/881||,T|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|9/12|c.1806G>A|p.Ala602Ala|2013/4091|1806/2796|602/931||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|11/12|c.1806G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|12/12|c.1806G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|10/12|c.1806G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|9/12|c.1806G>A||||||,T|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1G>A|||||898|,T|downstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.*443C>T|||||3187| 22 40814662 . C T . . ANN=T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|12/15|c.1780G>A|p.Ala594Thr|2371/4496|1780/2796|594/931||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|12/15|c.1780G>A|p.Ala594Thr|2371/4505|1780/2397|594/798||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|11/14|c.1630G>A|p.Ala544Thr|2227/4343|1630/2646|544/881||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|9/12|c.1780G>A|p.Ala594Thr|1987/4091|1780/2796|594/931||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|11/12|c.1780G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|12/12|c.1780G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|10/12|c.1780G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|9/12|c.1780G>A||||||,T|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1G>A|||||924|,T|downstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.*443C>T|||||3213| 22 40814737 . C T . . ANN=T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|12/15|c.1705G>A|p.Ala569Thr|2296/4496|1705/2796|569/931||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|12/15|c.1705G>A|p.Ala569Thr|2296/4505|1705/2397|569/798||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|11/14|c.1555G>A|p.Ala519Thr|2152/4343|1555/2646|519/881||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|9/12|c.1705G>A|p.Ala569Thr|1912/4091|1705/2796|569/931||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|11/12|c.1705G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|12/12|c.1705G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|10/12|c.1705G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|9/12|c.1705G>A||||||,T|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1G>A|||||999|,T|downstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.*443C>T|||||3288| 22 40814749 . C T . . ANN=T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|12/15|c.1693G>A|p.Ala565Thr|2284/4496|1693/2796|565/931||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|12/15|c.1693G>A|p.Ala565Thr|2284/4505|1693/2397|565/798||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|11/14|c.1543G>A|p.Ala515Thr|2140/4343|1543/2646|515/881||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|9/12|c.1693G>A|p.Ala565Thr|1900/4091|1693/2796|565/931||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|11/12|c.1693G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|12/12|c.1693G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|10/12|c.1693G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|9/12|c.1693G>A||||||,T|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1G>A|||||1011|,T|downstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.*443C>T|||||3300| 22 40814899 . G A . . ANN=A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|12/15|c.1543C>T|p.Arg515Trp|2134/4496|1543/2796|515/931||,A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|12/15|c.1543C>T|p.Arg515Trp|2134/4505|1543/2397|515/798||,A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|11/14|c.1393C>T|p.Arg465Trp|1990/4343|1393/2646|465/881||,A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|9/12|c.1543C>T|p.Arg515Trp|1750/4091|1543/2796|515/931||,A|sequence_feature|LOW|MKL1|ENSG00000196588|coiled-coil_region|ENST00000407029|protein_coding|9/12|c.1543C>T||||||,A|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1C>T|||||1161|,A|downstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.*443G>A|||||3450| 22 40814988 . G A . . ANN=A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|12/15|c.1454C>T|p.Thr485Met|2045/4496|1454/2796|485/931||,A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|12/15|c.1454C>T|p.Thr485Met|2045/4505|1454/2397|485/798||,A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|11/14|c.1304C>T|p.Thr435Met|1901/4343|1304/2646|435/881||,A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|9/12|c.1454C>T|p.Thr485Met|1661/4091|1454/2796|485/931||,A|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1C>T|||||1250|,A|downstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.*443G>A|||||3539| 22 40815047 . C T . . ANN=T|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|12/15|c.1395G>A|p.Thr465Thr|1986/4496|1395/2796|465/931||,T|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|12/15|c.1395G>A|p.Thr465Thr|1986/4505|1395/2397|465/798||,T|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|11/14|c.1245G>A|p.Thr415Thr|1842/4343|1245/2646|415/881||,T|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|9/12|c.1395G>A|p.Thr465Thr|1602/4091|1395/2796|465/931||,T|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1G>A|||||1309|,T|downstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.*443C>T|||||3598| 22 40815056 . C T . . ANN=T|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|12/15|c.1386G>A|p.Leu462Leu|1977/4496|1386/2796|462/931||,T|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|12/15|c.1386G>A|p.Leu462Leu|1977/4505|1386/2397|462/798||,T|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|11/14|c.1236G>A|p.Leu412Leu|1833/4343|1236/2646|412/881||,T|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|9/12|c.1386G>A|p.Leu462Leu|1593/4091|1386/2796|462/931||,T|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1G>A|||||1318|,T|downstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.*443C>T|||||3607| 22 40815089 . G C . . ANN=C|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|12/15|c.1353C>G|p.Pro451Pro|1944/4496|1353/2796|451/931||,C|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|12/15|c.1353C>G|p.Pro451Pro|1944/4505|1353/2397|451/798||,C|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|11/14|c.1203C>G|p.Pro401Pro|1800/4343|1203/2646|401/881||,C|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|9/12|c.1353C>G|p.Pro451Pro|1560/4091|1353/2796|451/931||,C|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1C>G|||||1351|,C|downstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.*443G>C|||||3640| 22 40815097 . A G . . ANN=G|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|12/15|c.1345T>C|p.Ser449Pro|1936/4496|1345/2796|449/931||,G|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|12/15|c.1345T>C|p.Ser449Pro|1936/4505|1345/2397|449/798||,G|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|11/14|c.1195T>C|p.Ser399Pro|1792/4343|1195/2646|399/881||,G|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|9/12|c.1345T>C|p.Ser449Pro|1552/4091|1345/2796|449/931||,G|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1T>C|||||1359|,G|downstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.*443A>G|||||3648| 22 40815133 . C T . . ANN=T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|12/15|c.1309G>A|p.Ala437Thr|1900/4496|1309/2796|437/931||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|12/15|c.1309G>A|p.Ala437Thr|1900/4505|1309/2397|437/798||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|11/14|c.1159G>A|p.Ala387Thr|1756/4343|1159/2646|387/881||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|9/12|c.1309G>A|p.Ala437Thr|1516/4091|1309/2796|437/931||,T|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1G>A|||||1395|,T|downstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.*443C>T|||||3684| 22 40815147 . A G . . ANN=G|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|12/15|c.1295T>C|p.Val432Ala|1886/4496|1295/2796|432/931||,G|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|12/15|c.1295T>C|p.Val432Ala|1886/4505|1295/2397|432/798||,G|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|11/14|c.1145T>C|p.Val382Ala|1742/4343|1145/2646|382/881||,G|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|9/12|c.1295T>C|p.Val432Ala|1502/4091|1295/2796|432/931||,G|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1T>C|||||1409|,G|downstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.*443A>G|||||3698| 22 40815190 . C T . . ANN=T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|12/15|c.1252G>A|p.Gly418Arg|1843/4496|1252/2796|418/931||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|12/15|c.1252G>A|p.Gly418Arg|1843/4505|1252/2397|418/798||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|11/14|c.1102G>A|p.Gly368Arg|1699/4343|1102/2646|368/881||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|9/12|c.1252G>A|p.Gly418Arg|1459/4091|1252/2796|418/931||,T|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1G>A|||||1452|,T|downstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.*443C>T|||||3741| 22 40815256 . C T . . ANN=T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|12/15|c.1186G>A|p.Ala396Thr|1777/4496|1186/2796|396/931||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|12/15|c.1186G>A|p.Ala396Thr|1777/4505|1186/2397|396/798||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|11/14|c.1036G>A|p.Ala346Thr|1633/4343|1036/2646|346/881||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|9/12|c.1186G>A|p.Ala396Thr|1393/4091|1186/2796|396/931||,T|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1G>A|||||1518|,T|downstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.*443C>T|||||3807| 22 40815294 . T C . . ANN=C|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|12/15|c.1148A>G|p.Gln383Arg|1739/4496|1148/2796|383/931||,C|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|12/15|c.1148A>G|p.Gln383Arg|1739/4505|1148/2397|383/798||,C|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|11/14|c.998A>G|p.Gln333Arg|1595/4343|998/2646|333/881||,C|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|9/12|c.1148A>G|p.Gln383Arg|1355/4091|1148/2796|383/931||,C|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1A>G|||||1556|,C|downstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.*443T>C|||||3845| 22 40815429 . G A . . ANN=A|sequence_feature|LOW|MKL1|ENSG00000196588|domain:SAP|ENST00000407029|protein_coding|8/12|c.1054-41C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|domain:SAP|ENST00000407029|protein_coding|9/12|c.1054-41C>T||||||,A|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1C>T|||||1691|,A|downstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.*443G>A|||||3980|,A|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|11/14|c.1054-41C>T||||||,A|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|11/14|c.1054-41C>T||||||,A|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|10/13|c.904-41C>T||||||,A|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|8/11|c.1054-41C>T|||||| 22 40816417 . C T . . ANN=T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|11/15|c.1045G>A|p.Asp349Asn|1636/4496|1045/2796|349/931||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|11/15|c.1045G>A|p.Asp349Asn|1636/4505|1045/2397|349/798||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|10/14|c.895G>A|p.Asp299Asn|1492/4343|895/2646|299/881||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|8/12|c.1045G>A|p.Asp349Asn|1252/4091|1045/2796|349/931||,T|sequence_feature|LOW|MKL1|ENSG00000196588|domain:SAP|ENST00000407029|protein_coding|8/12|c.1045G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|domain:SAP|ENST00000407029|protein_coding|9/12|c.1045G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|turn|ENST00000407029|protein_coding|8/12|c.1045G>A||||||,T|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1G>A|||||2679|,T|downstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.*443C>T|||||4968| 22 40816430 . C T . . ANN=T|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|11/15|c.1032G>A|p.Pro344Pro|1623/4496|1032/2796|344/931||,T|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|11/15|c.1032G>A|p.Pro344Pro|1623/4505|1032/2397|344/798||,T|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|10/14|c.882G>A|p.Pro294Pro|1479/4343|882/2646|294/881||,T|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|8/12|c.1032G>A|p.Pro344Pro|1239/4091|1032/2796|344/931||,T|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1G>A|||||2692|,T|downstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.*443C>T|||||4981| 22 40816443 . G A . . ANN=A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|11/15|c.1019C>T|p.Pro340Leu|1610/4496|1019/2796|340/931||,A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|11/15|c.1019C>T|p.Pro340Leu|1610/4505|1019/2397|340/798||,A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|10/14|c.869C>T|p.Pro290Leu|1466/4343|869/2646|290/881||,A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|8/12|c.1019C>T|p.Pro340Leu|1226/4091|1019/2796|340/931||,A|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1C>T|||||2705|,A|downstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.*443G>A|||||4994| 22 40816503 . G A . . ANN=A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|11/15|c.959C>T|p.Ser320Leu|1550/4496|959/2796|320/931||,A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|11/15|c.959C>T|p.Ser320Leu|1550/4505|959/2397|320/798||,A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|10/14|c.809C>T|p.Ser270Leu|1406/4343|809/2646|270/881||,A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|8/12|c.959C>T|p.Ser320Leu|1166/4091|959/2796|320/931||,A|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1C>T|||||2765| 22 40816548 . G T . . ANN=T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|11/15|c.914C>A|p.Thr305Asn|1505/4496|914/2796|305/931||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|11/15|c.914C>A|p.Thr305Asn|1505/4505|914/2397|305/798||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|10/14|c.764C>A|p.Thr255Asn|1361/4343|764/2646|255/881||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|8/12|c.914C>A|p.Thr305Asn|1121/4091|914/2796|305/931||,T|sequence_feature|MODERATE|MKL1|ENSG00000196588|amino_acid_modification:Phosphothreonine|ENST00000407029|protein_coding|8/12|c.914C>A||||||,T|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1C>A|||||2810| 22 40816571 . G A . . ANN=A|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|11/15|c.891C>T|p.Gly297Gly|1482/4496|891/2796|297/931||,A|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|11/15|c.891C>T|p.Gly297Gly|1482/4505|891/2397|297/798||,A|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|10/14|c.741C>T|p.Gly247Gly|1338/4343|741/2646|247/881||,A|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|8/12|c.891C>T|p.Gly297Gly|1098/4091|891/2796|297/931||,A|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1C>T|||||2833| 22 40816623 . G A . . ANN=A|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1C>T|||||2885|,A|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|10/14|c.882-43C>T||||||,A|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|10/14|c.882-43C>T||||||,A|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|9/13|c.732-43C>T||||||,A|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|7/11|c.882-43C>T|||||| 22 40816822 . G A . . ANN=A|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1C>T|||||3084|,A|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|10/14|c.881+29C>T||||||,A|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|10/14|c.881+29C>T||||||,A|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|9/13|c.731+29C>T||||||,A|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|7/11|c.881+29C>T|||||| 22 40816841 . G A . . ANN=A|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1C>T|||||3103|,A|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|10/14|c.881+10C>T||||||,A|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|10/14|c.881+10C>T||||||,A|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|9/13|c.731+10C>T||||||,A|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|7/11|c.881+10C>T|||||| 22 40816882 . T TGTG . . ANN=GTG|inframe_insertion|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|10/15|c.847_849dupCAC|p.His283dup|1440/4496|849/2796|283/931||,GTG|inframe_insertion|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|10/15|c.847_849dupCAC|p.His283dup|1440/4505|849/2397|283/798||,GTG|inframe_insertion|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|9/14|c.697_699dupCAC|p.His233dup|1296/4343|699/2646|233/881||,GTG|inframe_insertion|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|7/12|c.847_849dupCAC|p.His283dup|1056/4091|849/2796|283/931||,GTG|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Gln-rich|ENST00000407029|protein_coding|7/12|c.847_849dupCAC||||||,GTG|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1_-1dupCAC|||||3145| 22 40816889 . C G . . ANN=G|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|10/15|c.843G>C|p.Gln281His|1434/4496|843/2796|281/931||,G|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|10/15|c.843G>C|p.Gln281His|1434/4505|843/2397|281/798||,G|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|9/14|c.693G>C|p.Gln231His|1290/4343|693/2646|231/881||,G|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|7/12|c.843G>C|p.Gln281His|1050/4091|843/2796|281/931||,G|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Gln-rich|ENST00000407029|protein_coding|7/12|c.843G>C||||||,G|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1G>C|||||3151| 22 40816955 . G A . . ANN=A|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|10/15|c.777C>T|p.Tyr259Tyr|1368/4496|777/2796|259/931||,A|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|10/15|c.777C>T|p.Tyr259Tyr|1368/4505|777/2397|259/798||,A|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|9/14|c.627C>T|p.Tyr209Tyr|1224/4343|627/2646|209/881||,A|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|7/12|c.777C>T|p.Tyr259Tyr|984/4091|777/2796|259/931||,A|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1C>T|||||3217| 22 40816960 . A G . . ANN=G|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|10/15|c.772T>C|p.Ser258Pro|1363/4496|772/2796|258/931||,G|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|10/15|c.772T>C|p.Ser258Pro|1363/4505|772/2397|258/798||,G|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|9/14|c.622T>C|p.Ser208Pro|1219/4343|622/2646|208/881||,G|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|7/12|c.772T>C|p.Ser258Pro|979/4091|772/2796|258/931||,G|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1T>C|||||3222| 22 40817154 . C T . . ANN=T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|3/12|c.628-50G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|5/12|c.628-50G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|2/12|c.628-50G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|4/12|c.628-50G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|7/12|c.628-50G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|6/12|c.628-50G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|1/12|c.628-50G>A||||||,T|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1G>A|||||3416|,T|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|9/14|c.628-50G>A||||||,T|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|9/14|c.628-50G>A||||||,T|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|8/13|c.478-50G>A||||||,T|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|6/11|c.628-50G>A|||||| 22 40819551 . T C . . ANN=C|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|9/15|c.616A>G|p.Thr206Ala|1207/4496|616/2796|206/931||,C|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|9/15|c.616A>G|p.Thr206Ala|1207/4505|616/2397|206/798||,C|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|6/12|c.616A>G|p.Thr206Ala|823/4091|616/2796|206/931||,C|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|3/12|c.616A>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|5/12|c.616A>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|2/12|c.616A>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|4/12|c.616A>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|7/12|c.616A>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|6/12|c.616A>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|1/12|c.616A>G||||||,C|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|8/13|c.477+659A>G|||||| 22 40819629 . G C . . ANN=C|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|9/15|c.538C>G|p.Pro180Ala|1129/4496|538/2796|180/931||,C|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|9/15|c.538C>G|p.Pro180Ala|1129/4505|538/2397|180/798||,C|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|6/12|c.538C>G|p.Pro180Ala|745/4091|538/2796|180/931||,C|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|3/12|c.538C>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|5/12|c.538C>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|2/12|c.538C>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|4/12|c.538C>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|7/12|c.538C>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|6/12|c.538C>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|1/12|c.538C>G||||||,C|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|8/13|c.477+581C>G|||||| 22 40819664 . C T . . ANN=T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|9/15|c.503G>A|p.Arg168Gln|1094/4496|503/2796|168/931||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|9/15|c.503G>A|p.Arg168Gln|1094/4505|503/2397|168/798||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|6/12|c.503G>A|p.Arg168Gln|710/4091|503/2796|168/931||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|3/12|c.503G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|5/12|c.503G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|2/12|c.503G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|4/12|c.503G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|7/12|c.503G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|6/12|c.503G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|1/12|c.503G>A||||||,T|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|8/13|c.477+546G>A|||||| 22 40820160 . G A . . ANN=A|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|3/12|c.477+50C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|5/12|c.477+50C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|2/12|c.477+50C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|4/12|c.477+50C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|7/12|c.477+50C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|6/12|c.477+50C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|1/12|c.477+50C>T||||||,A|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|8/14|c.477+50C>T||||||,A|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|8/14|c.477+50C>T||||||,A|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|8/13|c.477+50C>T||||||,A|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|5/11|c.477+50C>T|||||| 22 40820172 . C T . . ANN=T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|3/12|c.477+38G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|5/12|c.477+38G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|2/12|c.477+38G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|4/12|c.477+38G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|7/12|c.477+38G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|6/12|c.477+38G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|1/12|c.477+38G>A||||||,T|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|8/14|c.477+38G>A||||||,T|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|8/14|c.477+38G>A||||||,T|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|8/13|c.477+38G>A||||||,T|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|5/11|c.477+38G>A|||||| 22 40820203 . C A . . ANN=A|splice_region_variant&intron_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|8/14|c.477+7G>T||||||,A|splice_region_variant&intron_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|8/14|c.477+7G>T||||||,A|splice_region_variant&intron_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|8/13|c.477+7G>T||||||,A|splice_region_variant&intron_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|5/11|c.477+7G>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|3/12|c.477+7G>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|5/12|c.477+7G>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|2/12|c.477+7G>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|4/12|c.477+7G>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|7/12|c.477+7G>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|6/12|c.477+7G>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|1/12|c.477+7G>T|||||| 22 40820213 . G C . . ANN=C|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|8/15|c.474C>G|p.Thr158Thr|1065/4496|474/2796|158/931||,C|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|8/15|c.474C>G|p.Thr158Thr|1065/4505|474/2397|158/798||,C|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|8/14|c.474C>G|p.Thr158Thr|1071/4343|474/2646|158/881||,C|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|5/12|c.474C>G|p.Thr158Thr|681/4091|474/2796|158/931||,C|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|3/12|c.474C>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|5/12|c.474C>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|2/12|c.474C>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|4/12|c.474C>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|7/12|c.474C>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|6/12|c.474C>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|1/12|c.474C>G|||||| 22 40820236 . T C . . ANN=C|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|8/15|c.451A>G|p.Ser151Gly|1042/4496|451/2796|151/931||,C|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|8/15|c.451A>G|p.Ser151Gly|1042/4505|451/2397|151/798||,C|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|8/14|c.451A>G|p.Ser151Gly|1048/4343|451/2646|151/881||,C|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|5/12|c.451A>G|p.Ser151Gly|658/4091|451/2796|151/931||,C|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|3/12|c.451A>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|5/12|c.451A>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|2/12|c.451A>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|4/12|c.451A>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|7/12|c.451A>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|6/12|c.451A>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|1/12|c.451A>G|||||| 22 40820248 . C T . . ANN=T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|8/15|c.439G>A|p.Glu147Lys|1030/4496|439/2796|147/931||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|8/15|c.439G>A|p.Glu147Lys|1030/4505|439/2397|147/798||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|8/14|c.439G>A|p.Glu147Lys|1036/4343|439/2646|147/881||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|5/12|c.439G>A|p.Glu147Lys|646/4091|439/2796|147/931||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|3/12|c.439G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|5/12|c.439G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|2/12|c.439G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|4/12|c.439G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|7/12|c.439G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|6/12|c.439G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|1/12|c.439G>A|||||| 22 40820273 . C T . . ANN=T|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|8/15|c.414G>A|p.Pro138Pro|1005/4496|414/2796|138/931||,T|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|8/15|c.414G>A|p.Pro138Pro|1005/4505|414/2397|138/798||,T|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|8/14|c.414G>A|p.Pro138Pro|1011/4343|414/2646|138/881||,T|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|5/12|c.414G>A|p.Pro138Pro|621/4091|414/2796|138/931||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|3/12|c.414G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|5/12|c.414G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|2/12|c.414G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|4/12|c.414G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|7/12|c.414G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|6/12|c.414G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|1/12|c.414G>A|||||| 22 40825561 . C T . . ANN=T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402630|protein_coding|4/4|c.350G>A|p.Arg117Lys|541/747|350/486|117/161||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|3/12|c.301+49G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|5/12|c.301+49G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|2/12|c.301+49G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|4/12|c.301+49G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|7/12|c.301+49G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|6/12|c.301+49G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|1/12|c.301+49G>A||||||,T|upstream_gene_variant|MODIFIER|RP5-1042K10.12|ENSG00000227413|transcript|ENST00000442557|processed_pseudogene||n.-1C>T|||||3579|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000422851|protein_coding||c.*569G>A|||||1848|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|7/14|c.301+49G>A||||||,T|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|7/14|c.301+49G>A||||||,T|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|7/13|c.301+49G>A||||||,T|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|4/11|c.301+49G>A|||||| 22 40825765 . G A . . ANN=A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|7/15|c.146C>T|p.Ser49Leu|737/4496|146/2796|49/931||,A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|7/15|c.146C>T|p.Ser49Leu|737/4505|146/2397|49/798||,A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|7/14|c.146C>T|p.Ser49Leu|743/4343|146/2646|49/881||,A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|4/12|c.146C>T|p.Ser49Leu|353/4091|146/2796|49/931||,A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402630|protein_coding|4/4|c.146C>T|p.Ser49Leu|337/747|146/486|49/161||,A|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|3/12|c.146C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|5/12|c.146C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|2/12|c.146C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|4/12|c.146C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|7/12|c.146C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|6/12|c.146C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|1/12|c.146C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|repeat:RPEL_1|ENST00000407029|protein_coding|3/12|c.146C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|repeat:RPEL_1|ENST00000407029|protein_coding|4/12|c.146C>T||||||,A|upstream_gene_variant|MODIFIER|RP5-1042K10.12|ENSG00000227413|transcript|ENST00000442557|processed_pseudogene||n.-1G>A|||||3375|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000422851|protein_coding||c.*569C>T|||||1644|WARNING_TRANSCRIPT_INCOMPLETE 22 40825806 . T C . . ANN=C|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|3/12|c.140-35A>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|5/12|c.140-35A>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|2/12|c.140-35A>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|4/12|c.140-35A>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|7/12|c.140-35A>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|6/12|c.140-35A>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|1/12|c.140-35A>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|repeat:RPEL_1|ENST00000407029|protein_coding|3/12|c.140-35A>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|repeat:RPEL_1|ENST00000407029|protein_coding|4/12|c.140-35A>G||||||,C|upstream_gene_variant|MODIFIER|RP5-1042K10.12|ENSG00000227413|transcript|ENST00000442557|processed_pseudogene||n.-1T>C|||||3334|,C|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000422851|protein_coding||c.*569A>G|||||1603|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|6/14|c.140-35A>G||||||,C|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|6/14|c.140-35A>G||||||,C|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|6/13|c.140-35A>G||||||,C|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|3/11|c.140-35A>G||||||,C|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402630|protein_coding|3/3|c.140-35A>G|||||| 22 40825814 . G A . . ANN=A|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|3/12|c.140-43C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|5/12|c.140-43C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|2/12|c.140-43C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|4/12|c.140-43C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|7/12|c.140-43C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|6/12|c.140-43C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|1/12|c.140-43C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|repeat:RPEL_1|ENST00000407029|protein_coding|3/12|c.140-43C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|repeat:RPEL_1|ENST00000407029|protein_coding|4/12|c.140-43C>T||||||,A|upstream_gene_variant|MODIFIER|RP5-1042K10.12|ENSG00000227413|transcript|ENST00000442557|processed_pseudogene||n.-1G>A|||||3326|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000422851|protein_coding||c.*569C>T|||||1595|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|6/14|c.140-43C>T||||||,A|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|6/14|c.140-43C>T||||||,A|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|6/13|c.140-43C>T||||||,A|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|3/11|c.140-43C>T||||||,A|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402630|protein_coding|3/3|c.140-43C>T|||||| 22 40827397 . C T . . ANN=T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|3/12|c.139+12G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|5/12|c.139+12G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|2/12|c.139+12G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|4/12|c.139+12G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|7/12|c.139+12G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|6/12|c.139+12G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|1/12|c.139+12G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|repeat:RPEL_1|ENST00000407029|protein_coding|3/12|c.139+12G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|repeat:RPEL_1|ENST00000407029|protein_coding|4/12|c.139+12G>A||||||,T|upstream_gene_variant|MODIFIER|RP5-1042K10.12|ENSG00000227413|transcript|ENST00000442557|processed_pseudogene||n.-1C>T|||||1743|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000422851|protein_coding||c.*569G>A|||||12|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|6/14|c.139+12G>A||||||,T|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|6/14|c.139+12G>A||||||,T|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|6/13|c.139+12G>A||||||,T|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|3/11|c.139+12G>A||||||,T|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402630|protein_coding|3/3|c.139+12G>A|||||| 22 40831478 . C T . . ANN=T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|3/12|c.63+25G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|5/12|c.63+25G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|2/12|c.63+25G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|4/12|c.63+25G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|7/12|c.63+25G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|6/12|c.63+25G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|1/12|c.63+25G>A||||||,T|downstream_gene_variant|MODIFIER|RP5-1042K10.12|ENSG00000227413|transcript|ENST00000442557|processed_pseudogene||n.*355C>T|||||1833|,T|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|5/14|c.63+25G>A||||||,T|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|5/14|c.63+25G>A||||||,T|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|5/13|c.63+25G>A||||||,T|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|2/11|c.63+25G>A||||||,T|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402630|protein_coding|2/3|c.63+25G>A||||||,T|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000422851|protein_coding|4/4|c.144+25G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 40831541 . C T . . ANN=T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|5/15|c.25G>A|p.Ala9Thr|616/4496|25/2796|9/931||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|5/15|c.25G>A|p.Ala9Thr|616/4505|25/2397|9/798||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|5/14|c.25G>A|p.Ala9Thr|622/4343|25/2646|9/881||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|2/12|c.25G>A|p.Ala9Thr|232/4091|25/2796|9/931||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402630|protein_coding|2/4|c.25G>A|p.Ala9Thr|216/747|25/486|9/161||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000422851|protein_coding|4/5|c.106G>A|p.Ala36Thr|455/569|106/220|36/72||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|3/12|c.25G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|5/12|c.25G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|2/12|c.25G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|4/12|c.25G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|7/12|c.25G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|6/12|c.25G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|1/12|c.25G>A||||||,T|downstream_gene_variant|MODIFIER|RP5-1042K10.12|ENSG00000227413|transcript|ENST00000442557|processed_pseudogene||n.*355C>T|||||1896| 22 40831542 . G A . . ANN=A|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|5/15|c.24C>T|p.Ala8Ala|615/4496|24/2796|8/931||,A|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|5/15|c.24C>T|p.Ala8Ala|615/4505|24/2397|8/798||,A|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|5/14|c.24C>T|p.Ala8Ala|621/4343|24/2646|8/881||,A|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|2/12|c.24C>T|p.Ala8Ala|231/4091|24/2796|8/931||,A|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000402630|protein_coding|2/4|c.24C>T|p.Ala8Ala|215/747|24/486|8/161||,A|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000422851|protein_coding|4/5|c.105C>T|p.Ala35Ala|454/569|105/220|35/72||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|3/12|c.24C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|5/12|c.24C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|2/12|c.24C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|4/12|c.24C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|7/12|c.24C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|6/12|c.24C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|1/12|c.24C>T||||||,A|downstream_gene_variant|MODIFIER|RP5-1042K10.12|ENSG00000227413|transcript|ENST00000442557|processed_pseudogene||n.*355G>A|||||1897| 22 40859205 . TGAGA T . . ANN=|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|3/12|c.7+16_7+19delTCTC||||||,|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|5/12|c.7+16_7+19delTCTC||||||,|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|2/12|c.7+16_7+19delTCTC||||||,|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|4/12|c.7+16_7+19delTCTC||||||,|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|7/12|c.7+16_7+19delTCTC||||||,|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|6/12|c.7+16_7+19delTCTC||||||,|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|1/12|c.7+16_7+19delTCTC||||||,|sequence_feature|LOW|MKL1|ENSG00000196588|site:Breakpoint_for_translocation_to_form_RBM15-MKL1|ENST00000407029|protein_coding|2/12|c.7+16_7+19delTCTC||||||,|sequence_feature|LOW|MKL1|ENSG00000196588|site:Breakpoint_for_translocation_to_form_RBM15-MKL1|ENST00000407029|protein_coding|1/12|c.7+16_7+19delTCTC||||||,|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000463769|processed_transcript||n.*531_*531delTCTC|||||26|,|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|4/14|c.7+16_7+19delTCTC||||||,|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|4/14|c.7+16_7+19delTCTC||||||,|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|4/13|c.7+16_7+19delTCTC||||||,|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|1/11|c.7+16_7+19delTCTC||||||,|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402630|protein_coding|1/3|c.7+16_7+19delTCTC||||||,|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000422851|protein_coding|3/4|c.88+16_88+19delTCTC||||||WARNING_TRANSCRIPT_INCOMPLETE 22 41075523 . C T . . ANN=T|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000249016|protein_coding|1/2|c.74C>T|p.Thr25Met|770/2851|74/1269|25/422||,T|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000381433|protein_coding|1/3|c.74C>T|p.Thr25Met|247/1219|74/891|25/296||,T|sequence_feature|LOW|MCHR1|ENSG00000128285|topological_domain:Extracellular|ENST00000249016|protein_coding|2/2|c.74C>T||||||,T|sequence_feature|LOW|MCHR1|ENSG00000128285|topological_domain:Extracellular|ENST00000249016|protein_coding|1/2|c.74C>T||||||,T|upstream_gene_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000465662|processed_transcript||n.-1C>T|||||588|,T|intron_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000498400|processed_transcript|1/1|n.132+115C>T|||||| 22 41075532 . A T . . ANN=T|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000249016|protein_coding|1/2|c.83A>T|p.Asp28Val|779/2851|83/1269|28/422||,T|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000381433|protein_coding|1/3|c.83A>T|p.Asp28Val|256/1219|83/891|28/296||,T|sequence_feature|LOW|MCHR1|ENSG00000128285|topological_domain:Extracellular|ENST00000249016|protein_coding|2/2|c.83A>T||||||,T|sequence_feature|LOW|MCHR1|ENSG00000128285|topological_domain:Extracellular|ENST00000249016|protein_coding|1/2|c.83A>T||||||,T|upstream_gene_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000465662|processed_transcript||n.-1A>T|||||579|,T|intron_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000498400|processed_transcript|1/1|n.132+124A>T|||||| 22 41075543 . A G . . ANN=G|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000249016|protein_coding|1/2|c.94A>G|p.Asn32Asp|790/2851|94/1269|32/422||,G|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000381433|protein_coding|1/3|c.94A>G|p.Asn32Asp|267/1219|94/891|32/296||,G|sequence_feature|LOW|MCHR1|ENSG00000128285|topological_domain:Extracellular|ENST00000249016|protein_coding|2/2|c.94A>G||||||,G|sequence_feature|LOW|MCHR1|ENSG00000128285|topological_domain:Extracellular|ENST00000249016|protein_coding|1/2|c.94A>G||||||,G|upstream_gene_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000465662|processed_transcript||n.-1A>G|||||568|,G|intron_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000498400|processed_transcript|1/1|n.132+135A>G|||||| 22 41075695 . C T . . ANN=T|sequence_feature|MODERATE|MCHR1|ENSG00000128285|glycosylation_site:N-linked__GlcNAc..._|ENST00000249016|protein_coding|1/2|c.246C>T||||||,T|synonymous_variant|LOW|MCHR1|ENSG00000128285|transcript|ENST00000249016|protein_coding|1/2|c.246C>T|p.Asn82Asn|942/2851|246/1269|82/422||,T|synonymous_variant|LOW|MCHR1|ENSG00000128285|transcript|ENST00000381433|protein_coding|1/3|c.246C>T|p.Asn82Asn|419/1219|246/891|82/296||,T|sequence_feature|LOW|MCHR1|ENSG00000128285|topological_domain:Extracellular|ENST00000249016|protein_coding|2/2|c.246C>T||||||,T|sequence_feature|LOW|MCHR1|ENSG00000128285|topological_domain:Extracellular|ENST00000249016|protein_coding|1/2|c.246C>T||||||,T|upstream_gene_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000465662|processed_transcript||n.-1C>T|||||416|,T|intron_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000498400|processed_transcript|1/1|n.132+287C>T|||||| 22 41075719 . C T . . ANN=T|synonymous_variant|LOW|MCHR1|ENSG00000128285|transcript|ENST00000249016|protein_coding|1/2|c.270C>T|p.Pro90Pro|966/2851|270/1269|90/422||,T|synonymous_variant|LOW|MCHR1|ENSG00000128285|transcript|ENST00000381433|protein_coding|1/3|c.270C>T|p.Pro90Pro|443/1219|270/891|90/296||,T|sequence_feature|LOW|MCHR1|ENSG00000128285|topological_domain:Extracellular|ENST00000249016|protein_coding|2/2|c.270C>T||||||,T|sequence_feature|LOW|MCHR1|ENSG00000128285|topological_domain:Extracellular|ENST00000249016|protein_coding|1/2|c.270C>T||||||,T|upstream_gene_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000465662|processed_transcript||n.-1C>T|||||392|,T|intron_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000498400|processed_transcript|1/1|n.132+311C>T|||||| 22 41076969 . G A . . ANN=A|synonymous_variant|LOW|MCHR1|ENSG00000128285|transcript|ENST00000249016|protein_coding|2/2|c.306G>A|p.Thr102Thr|1002/2851|306/1269|102/422||,A|synonymous_variant|LOW|MCHR1|ENSG00000128285|transcript|ENST00000381433|protein_coding|2/3|c.306G>A|p.Thr102Thr|479/1219|306/891|102/296||,A|sequence_feature|LOW|MCHR1|ENSG00000128285|topological_domain:Extracellular|ENST00000249016|protein_coding|2/2|c.306G>A||||||,A|sequence_feature|LOW|MCHR1|ENSG00000128285|topological_domain:Extracellular|ENST00000249016|protein_coding|1/2|c.306G>A||||||,A|non_coding_exon_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000498400|processed_transcript|2/2|n.149G>A||||||,A|non_coding_exon_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000465662|processed_transcript|2/2|n.127G>A|||||| 22 41076970 . G A . . ANN=A|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000249016|protein_coding|2/2|c.307G>A|p.Gly103Arg|1003/2851|307/1269|103/422||,A|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000381433|protein_coding|2/3|c.307G>A|p.Gly103Arg|480/1219|307/891|103/296||,A|sequence_feature|LOW|MCHR1|ENSG00000128285|topological_domain:Extracellular|ENST00000249016|protein_coding|2/2|c.307G>A||||||,A|sequence_feature|LOW|MCHR1|ENSG00000128285|topological_domain:Extracellular|ENST00000249016|protein_coding|1/2|c.307G>A||||||,A|non_coding_exon_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000498400|processed_transcript|2/2|n.150G>A||||||,A|non_coding_exon_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000465662|processed_transcript|2/2|n.128G>A|||||| 22 41077024 . C T . . ANN=T|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000249016|protein_coding|2/2|c.361C>T|p.Leu121Phe|1057/2851|361/1269|121/422||,T|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000381433|protein_coding|2/3|c.361C>T|p.Leu121Phe|534/1219|361/891|121/296||,T|sequence_feature|LOW|MCHR1|ENSG00000128285|transmembrane_region:Transmembrane_region|ENST00000249016|protein_coding|2/2|c.361C>T||||||,T|non_coding_exon_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000498400|processed_transcript|2/2|n.204C>T||||||,T|non_coding_exon_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000465662|processed_transcript|2/2|n.182C>T|||||| 22 41077150 . C T . . ANN=T|synonymous_variant|LOW|MCHR1|ENSG00000128285|transcript|ENST00000249016|protein_coding|2/2|c.487C>T|p.Leu163Leu|1183/2851|487/1269|163/422||,T|sequence_feature|LOW|MCHR1|ENSG00000128285|transmembrane_region:Transmembrane_region|ENST00000249016|protein_coding|2/2|c.487C>T||||||,T|intron_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000381433|protein_coding|2/2|c.465+22C>T||||||,T|non_coding_exon_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000498400|processed_transcript|2/2|n.330C>T||||||,T|non_coding_exon_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000465662|processed_transcript|2/2|n.308C>T|||||| 22 41077282 . G A . . ANN=A|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000249016|protein_coding|2/2|c.619G>A|p.Ala207Thr|1315/2851|619/1269|207/422||,A|sequence_feature|LOW|MCHR1|ENSG00000128285|transmembrane_region:Transmembrane_region|ENST00000249016|protein_coding|2/2|c.619G>A||||||,A|intron_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000381433|protein_coding|2/2|c.465+154G>A||||||,A|non_coding_exon_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000498400|processed_transcript|2/2|n.462G>A||||||,A|non_coding_exon_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000465662|processed_transcript|2/2|n.440G>A|||||| 22 41077283 . C T . . ANN=T|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000249016|protein_coding|2/2|c.620C>T|p.Ala207Val|1316/2851|620/1269|207/422||,T|sequence_feature|LOW|MCHR1|ENSG00000128285|transmembrane_region:Transmembrane_region|ENST00000249016|protein_coding|2/2|c.620C>T||||||,T|intron_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000381433|protein_coding|2/2|c.465+155C>T||||||,T|non_coding_exon_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000498400|processed_transcript|2/2|n.463C>T||||||,T|non_coding_exon_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000465662|processed_transcript|2/2|n.441C>T|||||| 22 41077343 . C T . . ANN=T|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000249016|protein_coding|2/2|c.680C>T|p.Ser227Phe|1376/2851|680/1269|227/422||,T|sequence_feature|LOW|MCHR1|ENSG00000128285|topological_domain:Cytoplasmic|ENST00000249016|protein_coding|2/2|c.680C>T||||||,T|intron_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000381433|protein_coding|2/2|c.466-164C>T||||||,T|non_coding_exon_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000498400|processed_transcript|2/2|n.523C>T||||||,T|non_coding_exon_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000465662|processed_transcript|2/2|n.501C>T|||||| 22 41077547 . C T . . ANN=T|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000249016|protein_coding|2/2|c.884C>T|p.Ala295Val|1580/2851|884/1269|295/422||,T|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000381433|protein_coding|3/3|c.506C>T|p.Ala169Val|679/1219|506/891|169/296||,T|sequence_feature|LOW|MCHR1|ENSG00000128285|transmembrane_region:Transmembrane_region|ENST00000249016|protein_coding|2/2|c.884C>T||||||,T|downstream_gene_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000465662|processed_transcript||n.*574C>T|||||131|,T|non_coding_exon_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000498400|processed_transcript|2/2|n.727C>T|||||| 22 41077548 . C T . . ANN=T|synonymous_variant|LOW|MCHR1|ENSG00000128285|transcript|ENST00000249016|protein_coding|2/2|c.885C>T|p.Ala295Ala|1581/2851|885/1269|295/422||,T|synonymous_variant|LOW|MCHR1|ENSG00000128285|transcript|ENST00000381433|protein_coding|3/3|c.507C>T|p.Ala169Ala|680/1219|507/891|169/296||,T|sequence_feature|LOW|MCHR1|ENSG00000128285|transmembrane_region:Transmembrane_region|ENST00000249016|protein_coding|2/2|c.885C>T||||||,T|downstream_gene_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000465662|processed_transcript||n.*574C>T|||||132|,T|non_coding_exon_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000498400|processed_transcript|2/2|n.728C>T|||||| 22 41077549 . G A . . ANN=A|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000249016|protein_coding|2/2|c.886G>A|p.Ala296Thr|1582/2851|886/1269|296/422||,A|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000381433|protein_coding|3/3|c.508G>A|p.Ala170Thr|681/1219|508/891|170/296||,A|sequence_feature|LOW|MCHR1|ENSG00000128285|transmembrane_region:Transmembrane_region|ENST00000249016|protein_coding|2/2|c.886G>A||||||,A|downstream_gene_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000465662|processed_transcript||n.*574G>A|||||133|,A|non_coding_exon_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000498400|processed_transcript|2/2|n.729G>A|||||| 22 41077612 . C T . . ANN=T|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000249016|protein_coding|2/2|c.949C>T|p.Arg317Trp|1645/2851|949/1269|317/422||,T|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000381433|protein_coding|3/3|c.571C>T|p.Arg191Trp|744/1219|571/891|191/296||,T|sequence_feature|LOW|MCHR1|ENSG00000128285|topological_domain:Cytoplasmic|ENST00000249016|protein_coding|2/2|c.949C>T||||||,T|downstream_gene_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000465662|processed_transcript||n.*574C>T|||||196|,T|non_coding_exon_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000498400|processed_transcript|2/2|n.792C>T|||||| 22 41077613 . G A . . ANN=A|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000249016|protein_coding|2/2|c.950G>A|p.Arg317Gln|1646/2851|950/1269|317/422||,A|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000381433|protein_coding|3/3|c.572G>A|p.Arg191Gln|745/1219|572/891|191/296||,A|sequence_feature|LOW|MCHR1|ENSG00000128285|topological_domain:Cytoplasmic|ENST00000249016|protein_coding|2/2|c.950G>A||||||,A|downstream_gene_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000465662|processed_transcript||n.*574G>A|||||197|,A|non_coding_exon_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000498400|processed_transcript|2/2|n.793G>A|||||| 22 41077734 . C T . . ANN=T|synonymous_variant|LOW|MCHR1|ENSG00000128285|transcript|ENST00000249016|protein_coding|2/2|c.1071C>T|p.Thr357Thr|1767/2851|1071/1269|357/422||,T|synonymous_variant|LOW|MCHR1|ENSG00000128285|transcript|ENST00000381433|protein_coding|3/3|c.693C>T|p.Thr231Thr|866/1219|693/891|231/296||,T|sequence_feature|LOW|MCHR1|ENSG00000128285|topological_domain:Extracellular|ENST00000249016|protein_coding|2/2|c.1071C>T||||||,T|downstream_gene_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000465662|processed_transcript||n.*574C>T|||||318|,T|non_coding_exon_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000498400|processed_transcript|2/2|n.914C>T|||||| 22 41077744 . T C . . ANN=C|synonymous_variant|LOW|MCHR1|ENSG00000128285|transcript|ENST00000249016|protein_coding|2/2|c.1081T>C|p.Leu361Leu|1777/2851|1081/1269|361/422||,C|synonymous_variant|LOW|MCHR1|ENSG00000128285|transcript|ENST00000381433|protein_coding|3/3|c.703T>C|p.Leu235Leu|876/1219|703/891|235/296||,C|sequence_feature|LOW|MCHR1|ENSG00000128285|transmembrane_region:Transmembrane_region|ENST00000249016|protein_coding|2/2|c.1081T>C||||||,C|downstream_gene_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000465662|processed_transcript||n.*574T>C|||||328|,C|non_coding_exon_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000498400|processed_transcript|2/2|n.924T>C|||||| 22 41077804 . A G . . ANN=G|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000249016|protein_coding|2/2|c.1141A>G|p.Ile381Val|1837/2851|1141/1269|381/422||,G|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000381433|protein_coding|3/3|c.763A>G|p.Ile255Val|936/1219|763/891|255/296||,G|sequence_feature|LOW|MCHR1|ENSG00000128285|transmembrane_region:Transmembrane_region|ENST00000249016|protein_coding|2/2|c.1141A>G||||||,G|downstream_gene_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000465662|processed_transcript||n.*574A>G|||||388|,G|non_coding_exon_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000498400|processed_transcript|2/2|n.984A>G|||||| 22 41077832 . G A . . ANN=A|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000249016|protein_coding|2/2|c.1169G>A|p.Arg390His|1865/2851|1169/1269|390/422||,A|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000381433|protein_coding|3/3|c.791G>A|p.Arg264His|964/1219|791/891|264/296||,A|sequence_feature|LOW|MCHR1|ENSG00000128285|topological_domain:Cytoplasmic|ENST00000249016|protein_coding|2/2|c.1169G>A||||||,A|downstream_gene_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000465662|processed_transcript||n.*574G>A|||||416|,A|non_coding_exon_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000498400|processed_transcript|2/2|n.1012G>A|||||| 22 41077864 . G A . . ANN=A|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000249016|protein_coding|2/2|c.1201G>A|p.Gly401Arg|1897/2851|1201/1269|401/422||,A|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000381433|protein_coding|3/3|c.823G>A|p.Gly275Arg|996/1219|823/891|275/296||,A|sequence_feature|LOW|MCHR1|ENSG00000128285|topological_domain:Cytoplasmic|ENST00000249016|protein_coding|2/2|c.1201G>A||||||,A|downstream_gene_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000465662|processed_transcript||n.*574G>A|||||448|,A|non_coding_exon_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000498400|processed_transcript|2/2|n.1044G>A|||||| 22 41077866 . G A . . ANN=A|synonymous_variant|LOW|MCHR1|ENSG00000128285|transcript|ENST00000249016|protein_coding|2/2|c.1203G>A|p.Gly401Gly|1899/2851|1203/1269|401/422||,A|synonymous_variant|LOW|MCHR1|ENSG00000128285|transcript|ENST00000381433|protein_coding|3/3|c.825G>A|p.Gly275Gly|998/1219|825/891|275/296||,A|sequence_feature|LOW|MCHR1|ENSG00000128285|topological_domain:Cytoplasmic|ENST00000249016|protein_coding|2/2|c.1203G>A||||||,A|downstream_gene_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000465662|processed_transcript||n.*574G>A|||||450|,A|non_coding_exon_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000498400|processed_transcript|2/2|n.1046G>A|||||| 22 41077873 . C T . . ANN=T|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000249016|protein_coding|2/2|c.1210C>T|p.Arg404Cys|1906/2851|1210/1269|404/422||,T|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000381433|protein_coding|3/3|c.832C>T|p.Arg278Cys|1005/1219|832/891|278/296||,T|sequence_feature|LOW|MCHR1|ENSG00000128285|topological_domain:Cytoplasmic|ENST00000249016|protein_coding|2/2|c.1210C>T||||||,T|downstream_gene_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000465662|processed_transcript||n.*574C>T|||||457|,T|non_coding_exon_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000498400|processed_transcript|2/2|n.1053C>T|||||| 22 41077895 . C T . . ANN=T|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000249016|protein_coding|2/2|c.1232C>T|p.Thr411Met|1928/2851|1232/1269|411/422||,T|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000381433|protein_coding|3/3|c.854C>T|p.Thr285Met|1027/1219|854/891|285/296||,T|sequence_feature|LOW|MCHR1|ENSG00000128285|topological_domain:Cytoplasmic|ENST00000249016|protein_coding|2/2|c.1232C>T||||||,T|downstream_gene_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000465662|processed_transcript||n.*574C>T|||||479|,T|non_coding_exon_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000498400|processed_transcript|2/2|n.1075C>T|||||| 22 41077980 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000249016|protein_coding|2/2|c.*48C>T|||||48|,T|3_prime_UTR_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000381433|protein_coding|3/3|c.*48C>T|||||48|,T|downstream_gene_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000465662|processed_transcript||n.*574C>T|||||564|,T|non_coding_exon_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000498400|processed_transcript|2/2|n.1160C>T|||||| 22 41077981 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000249016|protein_coding|2/2|c.*49G>A|||||49|,A|3_prime_UTR_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000381433|protein_coding|3/3|c.*49G>A|||||49|,A|downstream_gene_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000465662|processed_transcript||n.*574G>A|||||565|,A|non_coding_exon_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000498400|processed_transcript|2/2|n.1161G>A|||||| 22 41166819 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000435456|protein_coding|9/9|c.*19A>G|||||19|,C|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000263255|nonsense_mediated_decay|8/8|n.*599A>G|||||8301|,C|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000402844|protein_coding|5/5|c.*19A>G|||||19|,C|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000544408|protein_coding|10/10|c.*19A>G|||||19|,C|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000447566|nonsense_mediated_decay|7/7|n.*683A>G|||||21784|,C|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000542412|protein_coding|7/7|c.*19A>G|||||19|,C|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000420970|nonsense_mediated_decay||n.*798A>G|||||80|,C|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000430221|nonsense_mediated_decay||n.*218A>G|||||3122|,C|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000263255|nonsense_mediated_decay|8/8|n.*599A>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000491545|processed_transcript|11/11|n.1345A>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000447566|nonsense_mediated_decay|7/7|n.*683A>G|||||| 22 41166855 . G A . . ANN=A|missense_variant|MODERATE|SLC25A17|ENSG00000100372|transcript|ENST00000435456|protein_coding|9/9|c.907C>T|p.Arg303Cys|1041/2262|907/924|303/307||,A|missense_variant|MODERATE|SLC25A17|ENSG00000100372|transcript|ENST00000402844|protein_coding|5/5|c.661C>T|p.Arg221Cys|1642/2405|661/678|221/225||,A|missense_variant|MODERATE|SLC25A17|ENSG00000100372|transcript|ENST00000544408|protein_coding|10/10|c.796C>T|p.Arg266Cys|1021/1505|796/813|266/270||,A|missense_variant|MODERATE|SLC25A17|ENSG00000100372|transcript|ENST00000542412|protein_coding|7/7|c.688C>T|p.Arg230Cys|727/777|688/705|230/234||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|topological_domain:Cytoplasmic|ENST00000435456|protein_coding|9/9|c.907C>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|8/9|c.907C>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|9/9|c.907C>T||||||,A|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000263255|nonsense_mediated_decay|8/8|n.*563C>T|||||8265|,A|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000447566|nonsense_mediated_decay|7/7|n.*647C>T|||||21748|,A|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000420970|nonsense_mediated_decay||n.*798C>T|||||44|,A|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000430221|nonsense_mediated_decay||n.*218C>T|||||3086|,A|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000263255|nonsense_mediated_decay|8/8|n.*563C>T||||||,A|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000491545|processed_transcript|11/11|n.1309C>T||||||,A|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000447566|nonsense_mediated_decay|7/7|n.*647C>T|||||| 22 41169950 . T C . . ANN=C|missense_variant|MODERATE|SLC25A17|ENSG00000100372|transcript|ENST00000435456|protein_coding|8/9|c.767A>G|p.Gln256Arg|901/2262|767/924|256/307||,C|missense_variant|MODERATE|SLC25A17|ENSG00000100372|transcript|ENST00000402844|protein_coding|4/5|c.521A>G|p.Gln174Arg|1502/2405|521/678|174/225||,C|missense_variant|MODERATE|SLC25A17|ENSG00000100372|transcript|ENST00000544408|protein_coding|9/10|c.656A>G|p.Gln219Arg|881/1505|656/813|219/270||,C|missense_variant|MODERATE|SLC25A17|ENSG00000100372|transcript|ENST00000542412|protein_coding|6/7|c.548A>G|p.Gln183Arg|587/777|548/705|183/234||,C|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|8/9|c.767A>G||||||,C|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|9/9|c.767A>G||||||,C|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_3|ENST00000435456|protein_coding|7/9|c.767A>G||||||,C|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_3|ENST00000435456|protein_coding|8/9|c.767A>G||||||,C|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_3|ENST00000435456|protein_coding|9/9|c.767A>G||||||,C|sequence_feature|LOW|SLC25A17|ENSG00000100372|topological_domain:Lumenal|ENST00000435456|protein_coding|7/9|c.767A>G||||||,C|sequence_feature|LOW|SLC25A17|ENSG00000100372|topological_domain:Lumenal|ENST00000435456|protein_coding|8/9|c.767A>G||||||,C|sequence_feature|LOW|SLC25A17|ENSG00000100372|topological_domain:Lumenal|ENST00000435456|protein_coding|9/9|c.767A>G||||||,C|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000263255|nonsense_mediated_decay|7/8|n.*423A>G|||||5170|,C|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000447566|nonsense_mediated_decay|6/7|n.*507A>G|||||18653|,C|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000420970|nonsense_mediated_decay|9/10|n.*166A>G|||||2336|,C|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000430221|nonsense_mediated_decay|7/7|n.*507A>G|||||18653|,C|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000427084|nonsense_mediated_decay||n.*290A>G|||||3114|,C|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000458600|nonsense_mediated_decay||n.*289A>G|||||3282|,C|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000443810|nonsense_mediated_decay||n.*270A>G|||||3353|,C|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000412879|nonsense_mediated_decay||n.*288A>G|||||3392|,C|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000426396|nonsense_mediated_decay||n.*531A>G|||||3414|,C|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000263255|nonsense_mediated_decay|7/8|n.*423A>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000491545|processed_transcript|10/11|n.1169A>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000447566|nonsense_mediated_decay|6/7|n.*507A>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000420970|nonsense_mediated_decay|9/10|n.*166A>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000430221|nonsense_mediated_decay|7/7|n.*507A>G|||||| 22 41169975 . G A . . ANN=A|missense_variant|MODERATE|SLC25A17|ENSG00000100372|transcript|ENST00000435456|protein_coding|8/9|c.742C>T|p.Arg248Trp|876/2262|742/924|248/307||,A|missense_variant|MODERATE|SLC25A17|ENSG00000100372|transcript|ENST00000402844|protein_coding|4/5|c.496C>T|p.Arg166Trp|1477/2405|496/678|166/225||,A|missense_variant|MODERATE|SLC25A17|ENSG00000100372|transcript|ENST00000544408|protein_coding|9/10|c.631C>T|p.Arg211Trp|856/1505|631/813|211/270||,A|missense_variant|MODERATE|SLC25A17|ENSG00000100372|transcript|ENST00000542412|protein_coding|6/7|c.523C>T|p.Arg175Trp|562/777|523/705|175/234||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|8/9|c.742C>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|9/9|c.742C>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_3|ENST00000435456|protein_coding|7/9|c.742C>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_3|ENST00000435456|protein_coding|8/9|c.742C>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_3|ENST00000435456|protein_coding|9/9|c.742C>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|topological_domain:Lumenal|ENST00000435456|protein_coding|7/9|c.742C>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|topological_domain:Lumenal|ENST00000435456|protein_coding|8/9|c.742C>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|topological_domain:Lumenal|ENST00000435456|protein_coding|9/9|c.742C>T||||||,A|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000263255|nonsense_mediated_decay|7/8|n.*398C>T|||||5145|,A|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000447566|nonsense_mediated_decay|6/7|n.*482C>T|||||18628|,A|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000420970|nonsense_mediated_decay|9/10|n.*141C>T|||||2311|,A|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000430221|nonsense_mediated_decay|7/7|n.*482C>T|||||18628|,A|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000427084|nonsense_mediated_decay||n.*290C>T|||||3089|,A|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000458600|nonsense_mediated_decay||n.*289C>T|||||3257|,A|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000443810|nonsense_mediated_decay||n.*270C>T|||||3328|,A|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000412879|nonsense_mediated_decay||n.*288C>T|||||3367|,A|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000426396|nonsense_mediated_decay||n.*531C>T|||||3389|,A|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000263255|nonsense_mediated_decay|7/8|n.*398C>T||||||,A|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000491545|processed_transcript|10/11|n.1144C>T||||||,A|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000447566|nonsense_mediated_decay|6/7|n.*482C>T||||||,A|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000420970|nonsense_mediated_decay|9/10|n.*141C>T||||||,A|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000430221|nonsense_mediated_decay|7/7|n.*482C>T|||||| 22 41170063 . T C . . ANN=C|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_3|ENST00000435456|protein_coding|7/9|c.694-40A>G||||||,C|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_3|ENST00000435456|protein_coding|8/9|c.694-40A>G||||||,C|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_3|ENST00000435456|protein_coding|9/9|c.694-40A>G||||||,C|sequence_feature|LOW|SLC25A17|ENSG00000100372|topological_domain:Lumenal|ENST00000435456|protein_coding|7/9|c.694-40A>G||||||,C|sequence_feature|LOW|SLC25A17|ENSG00000100372|topological_domain:Lumenal|ENST00000435456|protein_coding|8/9|c.694-40A>G||||||,C|sequence_feature|LOW|SLC25A17|ENSG00000100372|topological_domain:Lumenal|ENST00000435456|protein_coding|9/9|c.694-40A>G||||||,C|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000427084|nonsense_mediated_decay||n.*290A>G|||||3001|,C|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000458600|nonsense_mediated_decay||n.*289A>G|||||3169|,C|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000443810|nonsense_mediated_decay||n.*270A>G|||||3240|,C|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000412879|nonsense_mediated_decay||n.*288A>G|||||3279|,C|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000426396|nonsense_mediated_decay||n.*531A>G|||||3301|,C|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000434193|nonsense_mediated_decay||n.*227A>G|||||4975|,C|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000435456|protein_coding|7/8|c.694-40A>G||||||,C|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000263255|nonsense_mediated_decay|6/7|n.*350-40A>G||||||,C|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000491545|processed_transcript|9/10|n.1096-40A>G||||||,C|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000402844|protein_coding|3/4|c.448-40A>G||||||,C|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000544408|protein_coding|8/9|c.583-40A>G||||||,C|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000447566|nonsense_mediated_decay|5/6|n.*434-40A>G||||||,C|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000542412|protein_coding|5/6|c.475-40A>G||||||,C|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000420970|nonsense_mediated_decay|8/9|n.*93-40A>G||||||,C|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000430221|nonsense_mediated_decay|6/6|n.*434-40A>G|||||| 22 41173002 . G A . . ANN=A|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_3|ENST00000435456|protein_coding|7/9|c.693+42C>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_3|ENST00000435456|protein_coding|8/9|c.693+42C>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_3|ENST00000435456|protein_coding|9/9|c.693+42C>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|topological_domain:Lumenal|ENST00000435456|protein_coding|7/9|c.693+42C>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|topological_domain:Lumenal|ENST00000435456|protein_coding|8/9|c.693+42C>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|topological_domain:Lumenal|ENST00000435456|protein_coding|9/9|c.693+42C>T||||||,A|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000427084|nonsense_mediated_decay||n.*290C>T|||||62|,A|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000458600|nonsense_mediated_decay||n.*289C>T|||||230|,A|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000443810|nonsense_mediated_decay||n.*270C>T|||||301|,A|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000412879|nonsense_mediated_decay||n.*288C>T|||||340|,A|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000426396|nonsense_mediated_decay||n.*531C>T|||||362|,A|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000434193|nonsense_mediated_decay||n.*227C>T|||||2036|,A|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000478550|processed_transcript||n.*562C>T|||||2064|,A|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000449676|nonsense_mediated_decay||n.*236C>T|||||2080|,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000435456|protein_coding|7/8|c.693+42C>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000263255|nonsense_mediated_decay|6/7|n.*349+42C>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000491545|processed_transcript|9/10|n.1095+42C>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000402844|protein_coding|3/4|c.447+42C>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000544408|protein_coding|8/9|c.582+42C>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000447566|nonsense_mediated_decay|5/6|n.*433+42C>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000542412|protein_coding|5/6|c.474+42C>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000420970|nonsense_mediated_decay|7/9|n.693+42C>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000430221|nonsense_mediated_decay|6/6|n.*433+42C>T|||||| 22 41173106 . C T . . ANN=T|missense_variant|MODERATE|SLC25A17|ENSG00000100372|transcript|ENST00000435456|protein_coding|7/9|c.631G>A|p.Val211Ile|765/2262|631/924|211/307||,T|missense_variant|MODERATE|SLC25A17|ENSG00000100372|transcript|ENST00000402844|protein_coding|3/5|c.385G>A|p.Val129Ile|1366/2405|385/678|129/225||,T|missense_variant|MODERATE|SLC25A17|ENSG00000100372|transcript|ENST00000544408|protein_coding|8/10|c.520G>A|p.Val174Ile|745/1505|520/813|174/270||,T|missense_variant|MODERATE|SLC25A17|ENSG00000100372|transcript|ENST00000542412|protein_coding|5/7|c.412G>A|p.Val138Ile|451/777|412/705|138/234||,T|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_3|ENST00000435456|protein_coding|7/9|c.631G>A||||||,T|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_3|ENST00000435456|protein_coding|8/9|c.631G>A||||||,T|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_3|ENST00000435456|protein_coding|9/9|c.631G>A||||||,T|sequence_feature|LOW|SLC25A17|ENSG00000100372|transmembrane_region:Transmembrane_region|ENST00000435456|protein_coding|7/9|c.631G>A||||||,T|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000263255|nonsense_mediated_decay|6/8|n.*287G>A|||||2014|,T|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000447566|nonsense_mediated_decay|5/7|n.*371G>A|||||15497|,T|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000430221|nonsense_mediated_decay|6/7|n.*371G>A|||||15497|,T|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000427084|nonsense_mediated_decay|7/7|n.*417G>A|||||15543|,T|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000458600|nonsense_mediated_decay||n.*289G>A|||||126|,T|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000443810|nonsense_mediated_decay||n.*270G>A|||||197|,T|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000412879|nonsense_mediated_decay||n.*288G>A|||||236|,T|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000426396|nonsense_mediated_decay||n.*531G>A|||||258|,T|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000434193|nonsense_mediated_decay||n.*227G>A|||||1932|,T|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000478550|processed_transcript||n.*562G>A|||||1960|,T|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000449676|nonsense_mediated_decay||n.*236G>A|||||1976|,T|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000263255|nonsense_mediated_decay|6/8|n.*287G>A||||||,T|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000491545|processed_transcript|9/11|n.1033G>A||||||,T|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000447566|nonsense_mediated_decay|5/7|n.*371G>A||||||,T|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000420970|nonsense_mediated_decay|7/10|n.631G>A||||||,T|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000430221|nonsense_mediated_decay|6/7|n.*371G>A||||||,T|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000427084|nonsense_mediated_decay|7/7|n.*417G>A|||||| 22 41173152 . GGAA G . . ANN=|sequence_feature|LOW|SLC25A17|ENSG00000100372|topological_domain:Cytoplasmic|ENST00000435456|protein_coding|7/9|c.598-16_598-14delTTC||||||,|sequence_feature|LOW|SLC25A17|ENSG00000100372|topological_domain:Cytoplasmic|ENST00000435456|protein_coding|6/9|c.598-16_598-14delTTC||||||,|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000458600|nonsense_mediated_decay||n.*289_*289delTTC|||||79|,|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000443810|nonsense_mediated_decay||n.*270_*270delTTC|||||150|,|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000412879|nonsense_mediated_decay||n.*288_*288delTTC|||||189|,|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000426396|nonsense_mediated_decay||n.*531_*531delTTC|||||211|,|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000434193|nonsense_mediated_decay||n.*227_*227delTTC|||||1885|,|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000478550|processed_transcript||n.*562_*562delTTC|||||1913|,|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000449676|nonsense_mediated_decay||n.*236_*236delTTC|||||1929|,|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000435456|protein_coding|6/8|c.598-16_598-14delTTC||||||,|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000263255|nonsense_mediated_decay|5/7|n.*254-16_*254-14delTTC||||||,|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000491545|processed_transcript|8/10|n.1000-16_1000-14delTTC||||||,|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000402844|protein_coding|2/4|c.352-16_352-14delTTC||||||,|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000544408|protein_coding|7/9|c.487-16_487-14delTTC||||||,|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000447566|nonsense_mediated_decay|4/6|n.*338-16_*338-14delTTC||||||,|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000542412|protein_coding|4/6|c.379-16_379-14delTTC||||||,|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000420970|nonsense_mediated_decay|6/9|n.598-16_598-14delTTC||||||,|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000430221|nonsense_mediated_decay|5/6|n.*338-16_*338-14delTTC||||||,|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000427084|nonsense_mediated_decay|6/6|n.*384-16_*384-14delTTC|||||| 22 41173256 . C T . . ANN=T|synonymous_variant|LOW|SLC25A17|ENSG00000100372|transcript|ENST00000435456|protein_coding|6/9|c.573G>A|p.Arg191Arg|707/2262|573/924|191/307||,T|synonymous_variant|LOW|SLC25A17|ENSG00000100372|transcript|ENST00000402844|protein_coding|2/5|c.327G>A|p.Arg109Arg|1308/2405|327/678|109/225||,T|synonymous_variant|LOW|SLC25A17|ENSG00000100372|transcript|ENST00000544408|protein_coding|7/10|c.462G>A|p.Arg154Arg|687/1505|462/813|154/270||,T|synonymous_variant|LOW|SLC25A17|ENSG00000100372|transcript|ENST00000542412|protein_coding|4/7|c.354G>A|p.Arg118Arg|393/777|354/705|118/234||,T|sequence_feature|LOW|SLC25A17|ENSG00000100372|topological_domain:Cytoplasmic|ENST00000435456|protein_coding|7/9|c.573G>A||||||,T|sequence_feature|LOW|SLC25A17|ENSG00000100372|topological_domain:Cytoplasmic|ENST00000435456|protein_coding|6/9|c.573G>A||||||,T|sequence_feature|LOW|SLC25A17|ENSG00000100372|short_sequence_motif:Peroxisome_localization_signal|ENST00000435456|protein_coding|6/9|c.573G>A||||||,T|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_2|ENST00000435456|protein_coding|5/9|c.573G>A||||||,T|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_2|ENST00000435456|protein_coding|4/9|c.573G>A||||||,T|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_2|ENST00000435456|protein_coding|6/9|c.573G>A||||||,T|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000263255|nonsense_mediated_decay|5/8|n.*229G>A|||||1864|,T|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000447566|nonsense_mediated_decay|4/7|n.*313G>A|||||15347|,T|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000430221|nonsense_mediated_decay|5/7|n.*313G>A|||||15347|,T|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000427084|nonsense_mediated_decay|6/7|n.*359G>A|||||15393|,T|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000458600|nonsense_mediated_decay|7/7|n.*488G>A|||||20062|,T|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000443810|nonsense_mediated_decay||n.*270G>A|||||47|,T|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000412879|nonsense_mediated_decay||n.*288G>A|||||86|,T|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000426396|nonsense_mediated_decay||n.*531G>A|||||108|,T|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000434193|nonsense_mediated_decay||n.*227G>A|||||1782|,T|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000478550|processed_transcript||n.*562G>A|||||1810|,T|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000449676|nonsense_mediated_decay||n.*236G>A|||||1826|,T|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000263255|nonsense_mediated_decay|5/8|n.*229G>A||||||,T|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000491545|processed_transcript|8/11|n.975G>A||||||,T|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000447566|nonsense_mediated_decay|4/7|n.*313G>A||||||,T|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000420970|nonsense_mediated_decay|6/10|n.573G>A||||||,T|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000430221|nonsense_mediated_decay|5/7|n.*313G>A||||||,T|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000427084|nonsense_mediated_decay|6/7|n.*359G>A||||||,T|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000458600|nonsense_mediated_decay|7/7|n.*488G>A|||||| 22 41174979 . C A . . ANN=A|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_2|ENST00000435456|protein_coding|5/9|c.451+34G>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_2|ENST00000435456|protein_coding|4/9|c.451+34G>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_2|ENST00000435456|protein_coding|6/9|c.451+34G>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|topological_domain:Lumenal|ENST00000435456|protein_coding|5/9|c.451+34G>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|topological_domain:Lumenal|ENST00000435456|protein_coding|6/9|c.451+34G>T||||||,A|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000434193|nonsense_mediated_decay||n.*227G>T|||||59|,A|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000478550|processed_transcript||n.*562G>T|||||87|,A|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000449676|nonsense_mediated_decay||n.*236G>T|||||103|,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000435456|protein_coding|5/8|c.451+34G>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000263255|nonsense_mediated_decay|4/7|n.*107+34G>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000491545|processed_transcript|7/10|n.853+34G>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000402844|protein_coding|1/4|c.205+34G>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000544408|protein_coding|6/9|c.340+34G>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000447566|nonsense_mediated_decay|3/6|n.*191+34G>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000542412|protein_coding|3/6|c.232+34G>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000420970|nonsense_mediated_decay|5/9|n.451+34G>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000430221|nonsense_mediated_decay|4/6|n.*191+34G>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000427084|nonsense_mediated_decay|5/6|n.*237+34G>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000458600|nonsense_mediated_decay|6/6|n.*366+34G>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000443810|nonsense_mediated_decay|5/5|n.*248+34G>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000412879|nonsense_mediated_decay|4/4|n.*237+34G>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000426396|nonsense_mediated_decay|6/6|n.*96+34G>T|||||| 22 41175014 . A C . . ANN=C|missense_variant&splice_region_variant|MODERATE|SLC25A17|ENSG00000100372|transcript|ENST00000435456|protein_coding|5/9|c.450T>G|p.Ile150Met|584/2262|450/924|150/307||,C|missense_variant&splice_region_variant|MODERATE|SLC25A17|ENSG00000100372|transcript|ENST00000402844|protein_coding|1/5|c.204T>G|p.Ile68Met|1185/2405|204/678|68/225||,C|missense_variant&splice_region_variant|MODERATE|SLC25A17|ENSG00000100372|transcript|ENST00000544408|protein_coding|6/10|c.339T>G|p.Ile113Met|564/1505|339/813|113/270||,C|missense_variant&splice_region_variant|MODERATE|SLC25A17|ENSG00000100372|transcript|ENST00000542412|protein_coding|3/7|c.231T>G|p.Ile77Met|270/777|231/705|77/234||,C|splice_region_variant&non_coding_exon_variant|LOW|SLC25A17|ENSG00000100372|transcript|ENST00000263255|nonsense_mediated_decay|4/8|n.*106T>G||||||,C|splice_region_variant&non_coding_exon_variant|LOW|SLC25A17|ENSG00000100372|transcript|ENST00000491545|processed_transcript|7/11|n.852T>G||||||,C|splice_region_variant&non_coding_exon_variant|LOW|SLC25A17|ENSG00000100372|transcript|ENST00000447566|nonsense_mediated_decay|3/7|n.*190T>G||||||,C|splice_region_variant&non_coding_exon_variant|LOW|SLC25A17|ENSG00000100372|transcript|ENST00000420970|nonsense_mediated_decay|5/10|n.450T>G||||||,C|splice_region_variant&non_coding_exon_variant|LOW|SLC25A17|ENSG00000100372|transcript|ENST00000430221|nonsense_mediated_decay|4/7|n.*190T>G||||||,C|splice_region_variant&non_coding_exon_variant|LOW|SLC25A17|ENSG00000100372|transcript|ENST00000427084|nonsense_mediated_decay|5/7|n.*236T>G||||||,C|splice_region_variant&non_coding_exon_variant|LOW|SLC25A17|ENSG00000100372|transcript|ENST00000458600|nonsense_mediated_decay|6/7|n.*365T>G||||||,C|splice_region_variant&non_coding_exon_variant|LOW|SLC25A17|ENSG00000100372|transcript|ENST00000443810|nonsense_mediated_decay|5/6|n.*247T>G||||||,C|splice_region_variant&non_coding_exon_variant|LOW|SLC25A17|ENSG00000100372|transcript|ENST00000412879|nonsense_mediated_decay|4/5|n.*236T>G||||||,C|splice_region_variant&non_coding_exon_variant|LOW|SLC25A17|ENSG00000100372|transcript|ENST00000426396|nonsense_mediated_decay|6/7|n.*95T>G||||||,C|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_2|ENST00000435456|protein_coding|5/9|c.450T>G||||||,C|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_2|ENST00000435456|protein_coding|4/9|c.450T>G||||||,C|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_2|ENST00000435456|protein_coding|6/9|c.450T>G||||||,C|sequence_feature|LOW|SLC25A17|ENSG00000100372|topological_domain:Lumenal|ENST00000435456|protein_coding|5/9|c.450T>G||||||,C|sequence_feature|LOW|SLC25A17|ENSG00000100372|topological_domain:Lumenal|ENST00000435456|protein_coding|6/9|c.450T>G||||||,C|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000263255|nonsense_mediated_decay|4/8|n.*106T>G|||||106|,C|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000447566|nonsense_mediated_decay|3/7|n.*190T>G|||||13589|,C|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000430221|nonsense_mediated_decay|4/7|n.*190T>G|||||13589|,C|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000427084|nonsense_mediated_decay|5/7|n.*236T>G|||||13635|,C|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000458600|nonsense_mediated_decay|6/7|n.*365T>G|||||18304|,C|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000443810|nonsense_mediated_decay|5/6|n.*247T>G|||||18304|,C|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000412879|nonsense_mediated_decay|4/5|n.*236T>G|||||13635|,C|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000426396|nonsense_mediated_decay|6/7|n.*95T>G|||||95|,C|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000434193|nonsense_mediated_decay||n.*227T>G|||||24|,C|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000478550|processed_transcript||n.*562T>G|||||52|,C|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000449676|nonsense_mediated_decay||n.*236T>G|||||68| 22 41175065 . T C . . ANN=C|synonymous_variant|LOW|SLC25A17|ENSG00000100372|transcript|ENST00000435456|protein_coding|5/9|c.399A>G|p.Gly133Gly|533/2262|399/924|133/307||,C|synonymous_variant|LOW|SLC25A17|ENSG00000100372|transcript|ENST00000402844|protein_coding|1/5|c.153A>G|p.Gly51Gly|1134/2405|153/678|51/225||,C|synonymous_variant|LOW|SLC25A17|ENSG00000100372|transcript|ENST00000544408|protein_coding|6/10|c.288A>G|p.Gly96Gly|513/1505|288/813|96/270||,C|synonymous_variant|LOW|SLC25A17|ENSG00000100372|transcript|ENST00000542412|protein_coding|3/7|c.180A>G|p.Gly60Gly|219/777|180/705|60/234||,C|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_2|ENST00000435456|protein_coding|5/9|c.399A>G||||||,C|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_2|ENST00000435456|protein_coding|4/9|c.399A>G||||||,C|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_2|ENST00000435456|protein_coding|6/9|c.399A>G||||||,C|sequence_feature|LOW|SLC25A17|ENSG00000100372|topological_domain:Lumenal|ENST00000435456|protein_coding|5/9|c.399A>G||||||,C|sequence_feature|LOW|SLC25A17|ENSG00000100372|topological_domain:Lumenal|ENST00000435456|protein_coding|6/9|c.399A>G||||||,C|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|1/9|c.399A>G||||||,C|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|3/9|c.399A>G||||||,C|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|2/9|c.399A>G||||||,C|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|5/9|c.399A>G||||||,C|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|4/9|c.399A>G||||||,C|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000263255|nonsense_mediated_decay|4/8|n.*55A>G|||||55|,C|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000447566|nonsense_mediated_decay|3/7|n.*139A>G|||||13538|,C|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000430221|nonsense_mediated_decay|4/7|n.*139A>G|||||13538|,C|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000427084|nonsense_mediated_decay|5/7|n.*185A>G|||||13584|,C|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000458600|nonsense_mediated_decay|6/7|n.*314A>G|||||18253|,C|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000443810|nonsense_mediated_decay|5/6|n.*196A>G|||||18253|,C|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000412879|nonsense_mediated_decay|4/5|n.*185A>G|||||13584|,C|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000426396|nonsense_mediated_decay|6/7|n.*44A>G|||||44|,C|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000434193|nonsense_mediated_decay|6/6|n.*344A>G|||||18253|,C|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000478550|processed_transcript||n.*562A>G|||||1|,C|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000449676|nonsense_mediated_decay||n.*236A>G|||||17|,C|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000263255|nonsense_mediated_decay|4/8|n.*55A>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000491545|processed_transcript|7/11|n.801A>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000447566|nonsense_mediated_decay|3/7|n.*139A>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000420970|nonsense_mediated_decay|5/10|n.399A>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000430221|nonsense_mediated_decay|4/7|n.*139A>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000427084|nonsense_mediated_decay|5/7|n.*185A>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000458600|nonsense_mediated_decay|6/7|n.*314A>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000443810|nonsense_mediated_decay|5/6|n.*196A>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000412879|nonsense_mediated_decay|4/5|n.*185A>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000426396|nonsense_mediated_decay|6/7|n.*44A>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000434193|nonsense_mediated_decay|6/6|n.*344A>G|||||| 22 41188570 . T C . . ANN=C|missense_variant|MODERATE|SLC25A17|ENSG00000100372|transcript|ENST00000435456|protein_coding|4/9|c.293A>G|p.His98Arg|427/2262|293/924|98/307||,C|missense_variant|MODERATE|SLC25A17|ENSG00000100372|transcript|ENST00000544408|protein_coding|5/10|c.182A>G|p.His61Arg|407/1505|182/813|61/270||,C|missense_variant|MODERATE|SLC25A17|ENSG00000100372|transcript|ENST00000434185|protein_coding|5/5|c.242A>G|p.His81Arg|531/565|242/276|81/91||WARNING_TRANSCRIPT_NO_STOP_CODON,C|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|1/9|c.293A>G||||||,C|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|3/9|c.293A>G||||||,C|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|2/9|c.293A>G||||||,C|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|5/9|c.293A>G||||||,C|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|4/9|c.293A>G||||||,C|sequence_feature|LOW|SLC25A17|ENSG00000100372|topological_domain:Cytoplasmic|ENST00000435456|protein_coding|4/9|c.293A>G||||||,C|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000447566|nonsense_mediated_decay|2/7|n.*33A>G|||||33|,C|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000430221|nonsense_mediated_decay|3/7|n.*33A>G|||||33|,C|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000427084|nonsense_mediated_decay|4/7|n.*79A>G|||||79|,C|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000458600|nonsense_mediated_decay|5/7|n.*208A>G|||||4748|,C|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000443810|nonsense_mediated_decay|4/6|n.*90A>G|||||4748|,C|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000412879|nonsense_mediated_decay|3/5|n.*79A>G|||||79|,C|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000434193|nonsense_mediated_decay|5/6|n.*238A>G|||||4748|,C|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000449676|nonsense_mediated_decay|5/6|n.*208A>G|||||4748|,C|upstream_gene_variant|MODIFIER|RP3-408N23.4|ENSG00000230769|transcript|ENST00000424746|processed_pseudogene||n.-1A>G|||||3299|,C|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000263255|nonsense_mediated_decay|3/7|n.182+1948A>G||||||,C|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000542412|protein_coding|2/6|c.115+6457A>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000491545|processed_transcript|5/11|n.558A>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000447566|nonsense_mediated_decay|2/7|n.*33A>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000420970|nonsense_mediated_decay|4/10|n.293A>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000430221|nonsense_mediated_decay|3/7|n.*33A>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000427084|nonsense_mediated_decay|4/7|n.*79A>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000458600|nonsense_mediated_decay|5/7|n.*208A>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000443810|nonsense_mediated_decay|4/6|n.*90A>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000412879|nonsense_mediated_decay|3/5|n.*79A>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000426396|nonsense_mediated_decay|4/7|n.293A>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000434193|nonsense_mediated_decay|5/6|n.*238A>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000449676|nonsense_mediated_decay|5/6|n.*208A>G|||||| 22 41190602 . G A . . ANN=A|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|1/9|c.116-18C>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|3/9|c.116-18C>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|2/9|c.116-18C>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|5/9|c.116-18C>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|4/9|c.116-18C>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_1|ENST00000435456|protein_coding|1/9|c.116-18C>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_1|ENST00000435456|protein_coding|3/9|c.116-18C>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_1|ENST00000435456|protein_coding|2/9|c.116-18C>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_1|ENST00000435456|protein_coding|4/9|c.116-18C>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|topological_domain:Lumenal|ENST00000435456|protein_coding|3/9|c.116-18C>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|topological_domain:Lumenal|ENST00000435456|protein_coding|2/9|c.116-18C>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|topological_domain:Lumenal|ENST00000435456|protein_coding|4/9|c.116-18C>T||||||,A|upstream_gene_variant|MODIFIER|JTBP1|ENSG00000233603|transcript|ENST00000441314|processed_pseudogene||n.-1G>A|||||3441|,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000435456|protein_coding|2/8|c.116-18C>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000263255|nonsense_mediated_decay|2/7|n.116-18C>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000491545|processed_transcript|3/10|n.381-18C>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000544408|protein_coding|3/9|c.5-18C>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000447566|nonsense_mediated_decay|1/6|n.55-1922C>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000542412|protein_coding|2/6|c.115+4425C>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000420970|nonsense_mediated_decay|2/9|n.116-18C>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000430221|nonsense_mediated_decay|2/6|n.73-1922C>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000427084|nonsense_mediated_decay|2/6|n.73-18C>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000458600|nonsense_mediated_decay|3/6|n.*31-18C>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000443810|nonsense_mediated_decay|3/5|n.*61-2003C>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000412879|nonsense_mediated_decay|2/4|n.116-1922C>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000426396|nonsense_mediated_decay|2/6|n.116-18C>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000434193|nonsense_mediated_decay|3/5|n.*61-18C>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000449676|nonsense_mediated_decay|3/5|n.*31-18C>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000434185|protein_coding|3/4|c.65-18C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 41190603 . C A . . ANN=A|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|1/9|c.116-19G>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|3/9|c.116-19G>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|2/9|c.116-19G>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|5/9|c.116-19G>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|4/9|c.116-19G>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_1|ENST00000435456|protein_coding|1/9|c.116-19G>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_1|ENST00000435456|protein_coding|3/9|c.116-19G>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_1|ENST00000435456|protein_coding|2/9|c.116-19G>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_1|ENST00000435456|protein_coding|4/9|c.116-19G>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|topological_domain:Lumenal|ENST00000435456|protein_coding|3/9|c.116-19G>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|topological_domain:Lumenal|ENST00000435456|protein_coding|2/9|c.116-19G>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|topological_domain:Lumenal|ENST00000435456|protein_coding|4/9|c.116-19G>T||||||,A|upstream_gene_variant|MODIFIER|JTBP1|ENSG00000233603|transcript|ENST00000441314|processed_pseudogene||n.-1C>A|||||3440|,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000435456|protein_coding|2/8|c.116-19G>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000263255|nonsense_mediated_decay|2/7|n.116-19G>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000491545|processed_transcript|3/10|n.381-19G>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000544408|protein_coding|3/9|c.5-19G>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000447566|nonsense_mediated_decay|1/6|n.55-1923G>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000542412|protein_coding|2/6|c.115+4424G>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000420970|nonsense_mediated_decay|2/9|n.116-19G>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000430221|nonsense_mediated_decay|2/6|n.73-1923G>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000427084|nonsense_mediated_decay|2/6|n.73-19G>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000458600|nonsense_mediated_decay|3/6|n.*31-19G>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000443810|nonsense_mediated_decay|3/5|n.*61-2004G>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000412879|nonsense_mediated_decay|2/4|n.116-1923G>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000426396|nonsense_mediated_decay|2/6|n.116-19G>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000434193|nonsense_mediated_decay|3/5|n.*61-19G>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000449676|nonsense_mediated_decay|3/5|n.*31-19G>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000434185|protein_coding|3/4|c.65-19G>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 41190621 . TA T . . ANN=|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|1/9|c.116-38delT||||||,|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|3/9|c.116-38delT||||||,|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|2/9|c.116-38delT||||||,|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|5/9|c.116-38delT||||||,|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|4/9|c.116-38delT||||||,|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_1|ENST00000435456|protein_coding|1/9|c.116-38delT||||||,|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_1|ENST00000435456|protein_coding|3/9|c.116-38delT||||||,|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_1|ENST00000435456|protein_coding|2/9|c.116-38delT||||||,|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_1|ENST00000435456|protein_coding|4/9|c.116-38delT||||||,|sequence_feature|LOW|SLC25A17|ENSG00000100372|topological_domain:Lumenal|ENST00000435456|protein_coding|3/9|c.116-38delT||||||,|sequence_feature|LOW|SLC25A17|ENSG00000100372|topological_domain:Lumenal|ENST00000435456|protein_coding|2/9|c.116-38delT||||||,|sequence_feature|LOW|SLC25A17|ENSG00000100372|topological_domain:Lumenal|ENST00000435456|protein_coding|4/9|c.116-38delT||||||,|upstream_gene_variant|MODIFIER|JTBP1|ENSG00000233603|transcript|ENST00000441314|processed_pseudogene||n.-1delA|||||3421|,|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000435456|protein_coding|2/8|c.116-38delT||||||,|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000263255|nonsense_mediated_decay|2/7|n.116-38delT||||||,|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000491545|processed_transcript|3/10|n.381-38delT||||||,|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000544408|protein_coding|3/9|c.5-38delT||||||,|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000447566|nonsense_mediated_decay|1/6|n.55-1942delT||||||,|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000542412|protein_coding|2/6|c.115+4405delT||||||,|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000420970|nonsense_mediated_decay|2/9|n.116-38delT||||||,|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000430221|nonsense_mediated_decay|2/6|n.73-1942delT||||||,|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000427084|nonsense_mediated_decay|2/6|n.73-38delT||||||,|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000458600|nonsense_mediated_decay|3/6|n.*31-38delT||||||,|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000443810|nonsense_mediated_decay|3/5|n.*61-2023delT||||||,|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000412879|nonsense_mediated_decay|2/4|n.116-1942delT||||||,|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000426396|nonsense_mediated_decay|2/6|n.116-38delT||||||,|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000434193|nonsense_mediated_decay|3/5|n.*61-38delT||||||,|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000449676|nonsense_mediated_decay|3/5|n.*31-38delT||||||,|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000434185|protein_coding|3/4|c.65-38delT||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 41190631 . A T . . ANN=T|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|1/9|c.116-47T>A||||||,T|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|3/9|c.116-47T>A||||||,T|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|2/9|c.116-47T>A||||||,T|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|5/9|c.116-47T>A||||||,T|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|4/9|c.116-47T>A||||||,T|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_1|ENST00000435456|protein_coding|1/9|c.116-47T>A||||||,T|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_1|ENST00000435456|protein_coding|3/9|c.116-47T>A||||||,T|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_1|ENST00000435456|protein_coding|2/9|c.116-47T>A||||||,T|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_1|ENST00000435456|protein_coding|4/9|c.116-47T>A||||||,T|sequence_feature|LOW|SLC25A17|ENSG00000100372|topological_domain:Lumenal|ENST00000435456|protein_coding|3/9|c.116-47T>A||||||,T|sequence_feature|LOW|SLC25A17|ENSG00000100372|topological_domain:Lumenal|ENST00000435456|protein_coding|2/9|c.116-47T>A||||||,T|sequence_feature|LOW|SLC25A17|ENSG00000100372|topological_domain:Lumenal|ENST00000435456|protein_coding|4/9|c.116-47T>A||||||,T|upstream_gene_variant|MODIFIER|JTBP1|ENSG00000233603|transcript|ENST00000441314|processed_pseudogene||n.-1A>T|||||3412|,T|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000435456|protein_coding|2/8|c.116-47T>A||||||,T|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000263255|nonsense_mediated_decay|2/7|n.116-47T>A||||||,T|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000491545|processed_transcript|3/10|n.381-47T>A||||||,T|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000544408|protein_coding|3/9|c.5-47T>A||||||,T|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000447566|nonsense_mediated_decay|1/6|n.55-1951T>A||||||,T|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000542412|protein_coding|2/6|c.115+4396T>A||||||,T|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000420970|nonsense_mediated_decay|2/9|n.116-47T>A||||||,T|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000430221|nonsense_mediated_decay|2/6|n.73-1951T>A||||||,T|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000427084|nonsense_mediated_decay|2/6|n.73-47T>A||||||,T|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000458600|nonsense_mediated_decay|3/6|n.*31-47T>A||||||,T|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000443810|nonsense_mediated_decay|3/5|n.*61-2032T>A||||||,T|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000412879|nonsense_mediated_decay|2/4|n.116-1951T>A||||||,T|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000426396|nonsense_mediated_decay|2/6|n.116-47T>A||||||,T|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000434193|nonsense_mediated_decay|3/5|n.*61-47T>A||||||,T|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000449676|nonsense_mediated_decay|3/5|n.*31-47T>A||||||,T|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000434185|protein_coding|3/4|c.65-47T>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 41195082 . G A . . ANN=A|synonymous_variant|LOW|SLC25A17|ENSG00000100372|transcript|ENST00000435456|protein_coding|2/9|c.60C>T|p.Ser20Ser|194/2262|60/924|20/307||,A|synonymous_variant|LOW|SLC25A17|ENSG00000100372|transcript|ENST00000542412|protein_coding|2/7|c.60C>T|p.Ser20Ser|99/777|60/705|20/234||,A|synonymous_variant|LOW|SLC25A17|ENSG00000100372|transcript|ENST00000434185|protein_coding|3/5|c.9C>T|p.Ser3Ser|298/565|9/276|3/91||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|1/9|c.60C>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|3/9|c.60C>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|2/9|c.60C>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|5/9|c.60C>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|4/9|c.60C>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_1|ENST00000435456|protein_coding|1/9|c.60C>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_1|ENST00000435456|protein_coding|3/9|c.60C>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_1|ENST00000435456|protein_coding|2/9|c.60C>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_1|ENST00000435456|protein_coding|4/9|c.60C>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|transmembrane_region:Transmembrane_region|ENST00000435456|protein_coding|1/9|c.60C>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|transmembrane_region:Transmembrane_region|ENST00000435456|protein_coding|2/9|c.60C>T||||||,A|5_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000544408|protein_coding|2/10|c.-105C>T|||||1791|,A|downstream_gene_variant|MODIFIER|JTBP1|ENSG00000233603|transcript|ENST00000441314|processed_pseudogene||n.*247G>A|||||793|,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000447566|nonsense_mediated_decay|1/6|n.55-6402C>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000430221|nonsense_mediated_decay|1/6|n.55-38C>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000427084|nonsense_mediated_decay|1/6|n.55-38C>T||||||,A|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000263255|nonsense_mediated_decay|2/8|n.60C>T||||||,A|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000491545|processed_transcript|3/11|n.325C>T||||||,A|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000420970|nonsense_mediated_decay|2/10|n.60C>T||||||,A|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000458600|nonsense_mediated_decay|2/7|n.60C>T||||||,A|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000443810|nonsense_mediated_decay|2/6|n.60C>T||||||,A|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000412879|nonsense_mediated_decay|2/5|n.60C>T||||||,A|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000426396|nonsense_mediated_decay|2/7|n.60C>T||||||,A|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000434193|nonsense_mediated_decay|2/6|n.60C>T||||||,A|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000449676|nonsense_mediated_decay|2/6|n.60C>T|||||| 22 41195121 . C T . . ANN=T|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|1/9|c.55-34G>A||||||,T|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|3/9|c.55-34G>A||||||,T|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|2/9|c.55-34G>A||||||,T|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|5/9|c.55-34G>A||||||,T|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|4/9|c.55-34G>A||||||,T|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_1|ENST00000435456|protein_coding|1/9|c.55-34G>A||||||,T|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_1|ENST00000435456|protein_coding|3/9|c.55-34G>A||||||,T|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_1|ENST00000435456|protein_coding|2/9|c.55-34G>A||||||,T|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_1|ENST00000435456|protein_coding|4/9|c.55-34G>A||||||,T|sequence_feature|LOW|SLC25A17|ENSG00000100372|transmembrane_region:Transmembrane_region|ENST00000435456|protein_coding|1/9|c.55-34G>A||||||,T|sequence_feature|LOW|SLC25A17|ENSG00000100372|transmembrane_region:Transmembrane_region|ENST00000435456|protein_coding|2/9|c.55-34G>A||||||,T|downstream_gene_variant|MODIFIER|JTBP1|ENSG00000233603|transcript|ENST00000441314|processed_pseudogene||n.*247C>T|||||832|,T|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000435456|protein_coding|1/8|c.55-34G>A||||||,T|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000263255|nonsense_mediated_decay|1/7|n.55-34G>A||||||,T|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000491545|processed_transcript|2/10|n.320-34G>A||||||,T|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000544408|protein_coding|1/9|c.-110-34G>A||||||,T|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000447566|nonsense_mediated_decay|1/6|n.55-6441G>A||||||,T|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000542412|protein_coding|1/6|c.55-34G>A||||||,T|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000420970|nonsense_mediated_decay|1/9|n.55-34G>A||||||,T|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000430221|nonsense_mediated_decay|1/6|n.55-77G>A||||||,T|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000427084|nonsense_mediated_decay|1/6|n.55-77G>A||||||,T|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000458600|nonsense_mediated_decay|1/6|n.55-34G>A||||||,T|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000443810|nonsense_mediated_decay|1/5|n.55-34G>A||||||,T|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000412879|nonsense_mediated_decay|1/4|n.55-34G>A||||||,T|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000426396|nonsense_mediated_decay|1/6|n.55-34G>A||||||,T|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000434193|nonsense_mediated_decay|1/5|n.55-34G>A||||||,T|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000449676|nonsense_mediated_decay|1/5|n.55-34G>A||||||,T|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000434185|protein_coding|2/4|c.4-34G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 41215150 . G A . . ANN=A|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|1/9|c.54+49C>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|3/9|c.54+49C>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|2/9|c.54+49C>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|5/9|c.54+49C>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|4/9|c.54+49C>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_1|ENST00000435456|protein_coding|1/9|c.54+49C>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_1|ENST00000435456|protein_coding|3/9|c.54+49C>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_1|ENST00000435456|protein_coding|2/9|c.54+49C>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_1|ENST00000435456|protein_coding|4/9|c.54+49C>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|transmembrane_region:Transmembrane_region|ENST00000435456|protein_coding|1/9|c.54+49C>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|transmembrane_region:Transmembrane_region|ENST00000435456|protein_coding|2/9|c.54+49C>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000435456|protein_coding|1/8|c.54+49C>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000263255|nonsense_mediated_decay|1/7|n.54+49C>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000491545|processed_transcript|1/10|n.144+49C>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000544408|protein_coding|1/9|c.-111+49C>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000447566|nonsense_mediated_decay|1/6|n.54+49C>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000542412|protein_coding|1/6|c.54+49C>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000420970|nonsense_mediated_decay|1/9|n.54+49C>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000430221|nonsense_mediated_decay|1/6|n.54+49C>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000427084|nonsense_mediated_decay|1/6|n.54+49C>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000458600|nonsense_mediated_decay|1/6|n.54+49C>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000443810|nonsense_mediated_decay|1/5|n.54+49C>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000412879|nonsense_mediated_decay|1/4|n.54+49C>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000426396|nonsense_mediated_decay|1/6|n.54+49C>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000434193|nonsense_mediated_decay|1/5|n.54+49C>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000449676|nonsense_mediated_decay|1/5|n.54+49C>T||||||,A|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000434185|protein_coding|1/4|c.-109+49C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 41215183 . A G . . ANN=G|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|1/9|c.54+16T>C||||||,G|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|3/9|c.54+16T>C||||||,G|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|2/9|c.54+16T>C||||||,G|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|5/9|c.54+16T>C||||||,G|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|4/9|c.54+16T>C||||||,G|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_1|ENST00000435456|protein_coding|1/9|c.54+16T>C||||||,G|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_1|ENST00000435456|protein_coding|3/9|c.54+16T>C||||||,G|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_1|ENST00000435456|protein_coding|2/9|c.54+16T>C||||||,G|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_1|ENST00000435456|protein_coding|4/9|c.54+16T>C||||||,G|sequence_feature|LOW|SLC25A17|ENSG00000100372|transmembrane_region:Transmembrane_region|ENST00000435456|protein_coding|1/9|c.54+16T>C||||||,G|sequence_feature|LOW|SLC25A17|ENSG00000100372|transmembrane_region:Transmembrane_region|ENST00000435456|protein_coding|2/9|c.54+16T>C||||||,G|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000435456|protein_coding|1/8|c.54+16T>C||||||,G|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000263255|nonsense_mediated_decay|1/7|n.54+16T>C||||||,G|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000491545|processed_transcript|1/10|n.144+16T>C||||||,G|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000544408|protein_coding|1/9|c.-111+16T>C||||||,G|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000447566|nonsense_mediated_decay|1/6|n.54+16T>C||||||,G|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000542412|protein_coding|1/6|c.54+16T>C||||||,G|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000420970|nonsense_mediated_decay|1/9|n.54+16T>C||||||,G|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000430221|nonsense_mediated_decay|1/6|n.54+16T>C||||||,G|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000427084|nonsense_mediated_decay|1/6|n.54+16T>C||||||,G|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000458600|nonsense_mediated_decay|1/6|n.54+16T>C||||||,G|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000443810|nonsense_mediated_decay|1/5|n.54+16T>C||||||,G|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000412879|nonsense_mediated_decay|1/4|n.54+16T>C||||||,G|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000426396|nonsense_mediated_decay|1/6|n.54+16T>C||||||,G|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000434193|nonsense_mediated_decay|1/5|n.54+16T>C||||||,G|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000449676|nonsense_mediated_decay|1/5|n.54+16T>C||||||,G|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000434185|protein_coding|1/4|c.-109+16T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 41215298 . C A . . ANN=A|5_prime_UTR_premature_start_codon_gain_variant|LOW|SLC25A17|ENSG00000100372|transcript|ENST00000435456|protein_coding|1/9|c.-46G>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|SLC25A17|ENSG00000100372|transcript|ENST00000263255|nonsense_mediated_decay|1/8|n.-46G>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|SLC25A17|ENSG00000100372|transcript|ENST00000544408|protein_coding|1/10|c.-210G>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|SLC25A17|ENSG00000100372|transcript|ENST00000447566|nonsense_mediated_decay|1/7|n.-46G>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|SLC25A17|ENSG00000100372|transcript|ENST00000420970|nonsense_mediated_decay|1/10|n.-46G>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|SLC25A17|ENSG00000100372|transcript|ENST00000430221|nonsense_mediated_decay|1/7|n.-46G>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|SLC25A17|ENSG00000100372|transcript|ENST00000427084|nonsense_mediated_decay|1/7|n.-46G>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|SLC25A17|ENSG00000100372|transcript|ENST00000458600|nonsense_mediated_decay|1/7|n.-46G>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|SLC25A17|ENSG00000100372|transcript|ENST00000443810|nonsense_mediated_decay|1/6|n.-46G>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|SLC25A17|ENSG00000100372|transcript|ENST00000412879|nonsense_mediated_decay|1/5|n.-46G>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|SLC25A17|ENSG00000100372|transcript|ENST00000426396|nonsense_mediated_decay|1/7|n.-46G>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|SLC25A17|ENSG00000100372|transcript|ENST00000434193|nonsense_mediated_decay|1/6|n.-46G>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|SLC25A17|ENSG00000100372|transcript|ENST00000449676|nonsense_mediated_decay|1/6|n.-46G>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|SLC25A17|ENSG00000100372|transcript|ENST00000434185|protein_coding|1/5|c.-208G>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|5_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000435456|protein_coding|1/9|c.-46G>T|||||46|,A|5_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000263255|nonsense_mediated_decay|1/8|n.-46G>T|||||46|,A|5_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000544408|protein_coding|1/10|c.-210G>T|||||22007|,A|5_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000447566|nonsense_mediated_decay|1/7|n.-46G>T|||||46|,A|5_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000420970|nonsense_mediated_decay|1/10|n.-46G>T|||||46|,A|5_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000430221|nonsense_mediated_decay|1/7|n.-46G>T|||||46|,A|5_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000427084|nonsense_mediated_decay|1/7|n.-46G>T|||||46|,A|5_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000458600|nonsense_mediated_decay|1/7|n.-46G>T|||||46|,A|5_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000443810|nonsense_mediated_decay|1/6|n.-46G>T|||||46|,A|5_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000412879|nonsense_mediated_decay|1/5|n.-46G>T|||||46|,A|5_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000426396|nonsense_mediated_decay|1/7|n.-46G>T|||||46|,A|5_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000434193|nonsense_mediated_decay|1/6|n.-46G>T|||||46|,A|5_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000449676|nonsense_mediated_decay|1/6|n.-46G>T|||||46|,A|5_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000434185|protein_coding|1/5|c.-208G>T|||||19731|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000542412|protein_coding||c.-40G>T|||||7|,A|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000263255|nonsense_mediated_decay|1/8|n.-46G>T||||||,A|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000491545|processed_transcript|1/11|n.45G>T||||||,A|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000447566|nonsense_mediated_decay|1/7|n.-46G>T||||||,A|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000420970|nonsense_mediated_decay|1/10|n.-46G>T||||||,A|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000430221|nonsense_mediated_decay|1/7|n.-46G>T||||||,A|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000427084|nonsense_mediated_decay|1/7|n.-46G>T||||||,A|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000458600|nonsense_mediated_decay|1/7|n.-46G>T||||||,A|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000443810|nonsense_mediated_decay|1/6|n.-46G>T||||||,A|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000412879|nonsense_mediated_decay|1/5|n.-46G>T||||||,A|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000426396|nonsense_mediated_decay|1/7|n.-46G>T||||||,A|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000434193|nonsense_mediated_decay|1/6|n.-46G>T||||||,A|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000449676|nonsense_mediated_decay|1/6|n.-46G>T|||||| 22 41222527 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding|12/12|c.*15A>G|||||15|,C|downstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000480048|retained_intron||n.*592A>G|||||627|,C|downstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay||n.*193A>G|||||698|,C|downstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000413424|nonsense_mediated_decay||n.*439A>G|||||4352| 22 41222684 . G A . . ANN=A|sequence_feature|LOW|ST13|ENSG00000100380|domain:STI1|ENST00000216218|protein_coding|11/12|c.982-14C>T||||||,A|sequence_feature|LOW|ST13|ENSG00000100380|domain:STI1|ENST00000216218|protein_coding|12/12|c.982-14C>T||||||,A|downstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000480048|retained_intron||n.*592C>T|||||470|,A|downstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay||n.*193C>T|||||541|,A|downstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000413424|nonsense_mediated_decay||n.*439C>T|||||4195|,A|intron_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding|11/11|c.982-14C>T|||||| 22 41223058 . C A . . ANN=A|sequence_feature|LOW|ST13|ENSG00000100380|domain:STI1|ENST00000216218|protein_coding|11/12|c.981+42G>T||||||,A|sequence_feature|LOW|ST13|ENSG00000100380|domain:STI1|ENST00000216218|protein_coding|12/12|c.981+42G>T||||||,A|downstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000480048|retained_intron||n.*592G>T|||||96|,A|downstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay||n.*193G>T|||||167|,A|downstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000413424|nonsense_mediated_decay||n.*439G>T|||||3821|,A|intron_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding|11/11|c.981+42G>T|||||| 22 41223190 . C T . . ANN=T|missense_variant|MODERATE|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding|11/12|c.891G>A|p.Met297Ile|1373/3595|891/1110|297/369||,T|sequence_feature|LOW|ST13|ENSG00000100380|compositionally_biased_region:Gly/Met/Pro-rich|ENST00000216218|protein_coding|10/12|c.891G>A||||||,T|sequence_feature|LOW|ST13|ENSG00000100380|compositionally_biased_region:Gly/Met/Pro-rich|ENST00000216218|protein_coding|11/12|c.891G>A||||||,T|downstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay||n.*193G>A|||||35|,T|downstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000413424|nonsense_mediated_decay||n.*439G>A|||||3689|,T|non_coding_exon_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000480048|retained_intron|4/4|n.556G>A|||||| 22 41223206 . T C . . ANN=C|missense_variant|MODERATE|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding|11/12|c.875A>G|p.Asn292Ser|1357/3595|875/1110|292/369||,C|sequence_feature|LOW|ST13|ENSG00000100380|compositionally_biased_region:Gly/Met/Pro-rich|ENST00000216218|protein_coding|10/12|c.875A>G||||||,C|sequence_feature|LOW|ST13|ENSG00000100380|compositionally_biased_region:Gly/Met/Pro-rich|ENST00000216218|protein_coding|11/12|c.875A>G||||||,C|downstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay||n.*193A>G|||||19|,C|downstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000413424|nonsense_mediated_decay||n.*439A>G|||||3673|,C|non_coding_exon_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000480048|retained_intron|4/4|n.540A>G|||||| 22 41223247 . T C . . ANN=C|sequence_feature|LOW|ST13|ENSG00000100380|compositionally_biased_region:Gly/Met/Pro-rich|ENST00000216218|protein_coding|10/12|c.848-14A>G||||||,C|sequence_feature|LOW|ST13|ENSG00000100380|compositionally_biased_region:Gly/Met/Pro-rich|ENST00000216218|protein_coding|11/12|c.848-14A>G||||||,C|downstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000413424|nonsense_mediated_decay||n.*439A>G|||||3632|,C|intron_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding|10/11|c.848-14A>G||||||,C|intron_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000480048|retained_intron|3/3|n.513-14A>G||||||,C|intron_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay|8/8|n.*597-14A>G|||||| 22 41225613 . C T . . ANN=T|sequence_feature|LOW|ST13|ENSG00000100380|compositionally_biased_region:Gly/Met/Pro-rich|ENST00000216218|protein_coding|10/12|c.847+17G>A||||||,T|sequence_feature|LOW|ST13|ENSG00000100380|compositionally_biased_region:Gly/Met/Pro-rich|ENST00000216218|protein_coding|11/12|c.847+17G>A||||||,T|downstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000413424|nonsense_mediated_decay||n.*439G>A|||||1266|,T|downstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000411695|protein_coding||c.*549G>A|||||3043|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding|10/11|c.847+17G>A||||||,T|intron_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000480048|retained_intron|3/3|n.512+17G>A||||||,T|intron_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay|8/8|n.*596+17G>A|||||| 22 41225691 . AG A . . ANN=|downstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000413424|nonsense_mediated_decay||n.*439delC|||||1187|,|downstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000411695|protein_coding||c.*549delC|||||2964|WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding|9/11|c.799-14delC||||||,|intron_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000480048|retained_intron|2/3|n.464-14delC||||||,|intron_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay|7/8|n.*548-14delC|||||| 22 41225709 . TAGA T . . ANN=|downstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000413424|nonsense_mediated_decay||n.*439_*439delTCT|||||1169|,|downstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000411695|protein_coding||c.*549_*549delTCT|||||2946|WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding|9/11|c.799-34_799-32delTCT||||||,|intron_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000480048|retained_intron|2/3|n.464-34_464-32delTCT||||||,|intron_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay|7/8|n.*548-34_*548-32delTCT|||||| 22 41225726 . GCTGTCCATGCAAC G . . ANN=|downstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000413424|nonsense_mediated_decay||n.*439_*439delGTTGCATGGACAG|||||1152|,|downstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000411695|protein_coding||c.*549_*549delGTTGCATGGACAG|||||2929|WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding|9/11|c.799-61_799-49delGTTGCATGGACAG||||||,|intron_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000480048|retained_intron|2/3|n.464-61_464-49delGTTGCATGGACAG||||||,|intron_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay|7/8|n.*548-61_*548-49delGTTGCATGGACAG|||||| 22 41226815 . C G . . ANN=G|downstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000413424|nonsense_mediated_decay||n.*439G>C|||||64|,G|downstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000411695|protein_coding||c.*549G>C|||||1841|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000495652|retained_intron||n.*425G>C|||||4582|,G|intron_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding|9/11|c.798+29G>C||||||,G|intron_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000480048|retained_intron|2/3|n.463+29G>C||||||,G|intron_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay|7/8|n.*547+29G>C|||||| 22 41226883 . T G . . ANN=G|synonymous_variant|LOW|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding|9/12|c.759A>C|p.Arg253Arg|1241/3595|759/1110|253/369||,G|3_prime_UTR_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay|7/9|n.*508A>C|||||14024|,G|3_prime_UTR_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000413424|nonsense_mediated_decay|7/7|n.*187A>C|||||1317|,G|downstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000411695|protein_coding||c.*549A>C|||||1773|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000495652|retained_intron||n.*425A>C|||||4514|,G|non_coding_exon_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000480048|retained_intron|2/4|n.424A>C||||||,G|non_coding_exon_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay|7/9|n.*508A>C||||||,G|non_coding_exon_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000413424|nonsense_mediated_decay|7/7|n.*187A>C|||||| 22 41228525 . C T . . ANN=T|downstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000411695|protein_coding||c.*549G>A|||||131|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000495652|retained_intron||n.*425G>A|||||2872|,T|intron_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding|8/11|c.681+48G>A||||||,T|intron_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000480048|retained_intron|1/3|n.347-1565G>A||||||,T|intron_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay|6/8|n.*430+48G>A||||||,T|intron_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000413424|nonsense_mediated_decay|5/6|n.417+48G>A|||||| 22 41231826 . A C . . ANN=C|missense_variant|MODERATE|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding|6/12|c.448T>G|p.Leu150Val|930/3595|448/1110|150/369||,C|missense_variant|MODERATE|ST13|ENSG00000100380|transcript|ENST00000411695|protein_coding|6/8|c.337T>G|p.Leu113Val|399/549|337/487|113/161||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|ST13|ENSG00000100380|repeat:TPR_2|ENST00000216218|protein_coding|6/12|c.448T>G||||||,C|sequence_feature|LOW|ST13|ENSG00000100380|repeat:TPR_2|ENST00000216218|protein_coding|7/12|c.448T>G||||||,C|3_prime_UTR_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay|4/9|n.*197T>G|||||9081|,C|non_coding_exon_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000480048|retained_intron|1/4|n.84T>G||||||,C|non_coding_exon_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay|4/9|n.*197T>G||||||,C|non_coding_exon_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000413424|nonsense_mediated_decay|3/7|n.184T>G||||||,C|non_coding_exon_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000495652|retained_intron|1/2|n.128T>G|||||| 22 41231896 . A T . . ANN=T|splice_region_variant&intron_variant|LOW|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding|5/11|c.383-5T>A||||||,T|splice_region_variant&intron_variant|LOW|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay|3/8|n.*132-5T>A||||||,T|splice_region_variant&intron_variant|LOW|ST13|ENSG00000100380|transcript|ENST00000413424|nonsense_mediated_decay|2/6|n.119-5T>A||||||,T|splice_region_variant&intron_variant|LOW|ST13|ENSG00000100380|transcript|ENST00000411695|protein_coding|5/7|c.272-5T>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|ST13|ENSG00000100380|repeat:TPR_1|ENST00000216218|protein_coding|5/12|c.383-5T>A||||||,T|sequence_feature|LOW|ST13|ENSG00000100380|repeat:TPR_1|ENST00000216218|protein_coding|6/12|c.383-5T>A||||||,T|non_coding_exon_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000480048|retained_intron|1/4|n.14T>A||||||,T|non_coding_exon_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000495652|retained_intron|1/2|n.58T>A|||||| 22 41236696 . T C . . ANN=C|missense_variant&splice_region_variant|MODERATE|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding|5/12|c.316A>G|p.Ile106Val|798/3595|316/1110|106/369||,C|missense_variant&splice_region_variant|MODERATE|ST13|ENSG00000100380|transcript|ENST00000411695|protein_coding|5/8|c.205A>G|p.Ile69Val|267/549|205/487|69/161||WARNING_TRANSCRIPT_INCOMPLETE,C|splice_region_variant&non_coding_exon_variant|LOW|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay|3/9|n.*65A>G||||||,C|splice_region_variant&non_coding_exon_variant|LOW|ST13|ENSG00000100380|transcript|ENST00000413424|nonsense_mediated_decay|2/7|n.52A>G||||||,C|3_prime_UTR_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay|3/9|n.*65A>G|||||4211|,C|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000480048|retained_intron||n.-1A>G|||||4787|,C|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000495652|retained_intron||n.-1A>G|||||4743| 22 41236729 . G A . . ANN=A|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000480048|retained_intron||n.-1C>T|||||4820|,A|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000495652|retained_intron||n.-1C>T|||||4776|,A|intron_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding|4/11|c.316-33C>T||||||,A|intron_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay|2/8|n.*65-33C>T||||||,A|intron_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000413424|nonsense_mediated_decay|1/6|n.52-33C>T||||||,A|intron_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000411695|protein_coding|4/7|c.205-33C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 41236745 . G A . . ANN=A|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000480048|retained_intron||n.-1C>T|||||4836|,A|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000495652|retained_intron||n.-1C>T|||||4792|,A|intron_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding|4/11|c.316-49C>T||||||,A|intron_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay|2/8|n.*65-49C>T||||||,A|intron_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000413424|nonsense_mediated_decay|1/6|n.52-49C>T||||||,A|intron_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000411695|protein_coding|4/7|c.205-49C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 41240803 . A G . . ANN=G|intron_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding|4/11|c.315+40T>C||||||,G|intron_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay|2/8|n.*64+40T>C||||||,G|intron_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000413424|nonsense_mediated_decay|1/6|n.51+40T>C||||||,G|intron_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000411695|protein_coding|4/7|c.204+40T>C||||||WARNING_TRANSCRIPT_INCOMPLETE 22 41240835 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding|4/11|c.315+8C>T||||||,A|splice_region_variant&intron_variant|LOW|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay|2/8|n.*64+8C>T||||||,A|splice_region_variant&intron_variant|LOW|ST13|ENSG00000100380|transcript|ENST00000413424|nonsense_mediated_decay|1/6|n.51+8C>T||||||,A|splice_region_variant&intron_variant|LOW|ST13|ENSG00000100380|transcript|ENST00000411695|protein_coding|4/7|c.204+8C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 41240846 . C T . . ANN=T|synonymous_variant|LOW|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding|4/12|c.312G>A|p.Ala104Ala|794/3595|312/1110|104/369||,T|synonymous_variant|LOW|ST13|ENSG00000100380|transcript|ENST00000411695|protein_coding|4/8|c.201G>A|p.Ala67Ala|263/549|201/487|67/161||WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay|2/9|n.*61G>A|||||61|,T|non_coding_exon_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay|2/9|n.*61G>A||||||,T|non_coding_exon_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000413424|nonsense_mediated_decay|1/7|n.48G>A|||||| 22 41240909 . A C . . ANN=C|missense_variant|MODERATE|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding|4/12|c.249T>G|p.Ile83Met|731/3595|249/1110|83/369||,C|missense_variant|MODERATE|ST13|ENSG00000100380|transcript|ENST00000411695|protein_coding|4/8|c.138T>G|p.Ile46Met|200/549|138/487|46/161||WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000413424|nonsense_mediated_decay||n.-2T>G|||||15|,C|non_coding_exon_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay|2/9|n.115T>G|||||| 22 41244257 . A G . . ANN=G|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000413424|nonsense_mediated_decay||n.-2T>C|||||3363|,G|intron_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding|3/11|c.244+41T>C||||||,G|intron_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay|1/8|n.111-3344T>C||||||,G|intron_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000411695|protein_coding|3/7|c.133+41T>C||||||WARNING_TRANSCRIPT_INCOMPLETE 22 41244287 . C T . . ANN=T|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000413424|nonsense_mediated_decay||n.-2G>A|||||3393|,T|intron_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding|3/11|c.244+11G>A||||||,T|intron_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay|1/8|n.111-3374G>A||||||,T|intron_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000411695|protein_coding|3/7|c.133+11G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 41244398 . C G . . ANN=G|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000413424|nonsense_mediated_decay||n.-2G>C|||||3504|,G|intron_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding|2/11|c.169-25G>C||||||,G|intron_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay|1/8|n.111-3485G>C||||||,G|intron_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000411695|protein_coding|2/7|c.58-25G>C||||||WARNING_TRANSCRIPT_INCOMPLETE 22 41246782 . T G . . ANN=G|intron_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding|2/11|c.168+45A>C||||||,G|intron_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay|1/8|n.110+5653A>C||||||,G|intron_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000411695|protein_coding|2/7|c.57+45A>C||||||WARNING_TRANSCRIPT_INCOMPLETE 22 41246855 . T C . . ANN=C|missense_variant|MODERATE|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding|2/12|c.140A>G|p.Gln47Arg|622/3595|140/1110|47/369||,C|missense_variant|MODERATE|ST13|ENSG00000100380|transcript|ENST00000411695|protein_coding|2/8|c.29A>G|p.Gln10Arg|91/549|29/487|10/161||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay|1/8|n.110+5580A>G|||||| 22 41246931 . C T . . ANN=T|intron_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding|1/11|c.111-47G>A||||||,T|intron_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay|1/8|n.110+5504G>A||||||,T|intron_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000411695|protein_coding|1/7|c.-1-47G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 41252405 . C G . . ANN=G|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding||c.-85C>G|||||697|,G|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000411695|protein_coding||c.-63G>C|||||1803|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000417688|retained_intron||n.-1C>G|||||676|,G|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding||c.-99C>G|||||683|,G|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000414396|protein_coding||c.-93C>G|||||689|,G|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000482652|processed_transcript||n.-1C>G|||||696|,G|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay||n.-52C>G|||||730|,G|downstream_gene_variant|MODIFIER|DNAJB7|ENSG00000172404|transcript|ENST00000307221|protein_coding||c.*1062G>C|||||3148|,G|intron_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding|1/11|c.110+30G>C||||||,G|intron_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay|1/8|n.110+30G>C|||||| 22 41252523 . C T . . ANN=T|missense_variant|MODERATE|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding|1/12|c.22G>A|p.Glu8Lys|504/3595|22/1110|8/369||,T|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding||c.-85C>T|||||579|,T|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000411695|protein_coding||c.-63G>A|||||1921|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000417688|retained_intron||n.-1C>T|||||558|,T|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding||c.-99C>T|||||565|,T|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000414396|protein_coding||c.-93C>T|||||571|,T|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000482652|processed_transcript||n.-1C>T|||||578|,T|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay||n.-52C>T|||||612|,T|downstream_gene_variant|MODIFIER|DNAJB7|ENSG00000172404|transcript|ENST00000307221|protein_coding||c.*1062G>A|||||3030|,T|non_coding_exon_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay|1/9|n.22G>A|||||| 22 41252584 . C G . . ANN=G|5_prime_UTR_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding|1/12|c.-40G>C|||||40|,G|5_prime_UTR_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay|1/9|n.-40G>C|||||40|,G|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding||c.-85C>G|||||518|,G|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000411695|protein_coding||c.-63G>C|||||1982|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000417688|retained_intron||n.-1C>G|||||497|,G|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding||c.-99C>G|||||504|,G|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000414396|protein_coding||c.-93C>G|||||510|,G|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000482652|processed_transcript||n.-1C>G|||||517|,G|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay||n.-52C>G|||||551|,G|downstream_gene_variant|MODIFIER|DNAJB7|ENSG00000172404|transcript|ENST00000307221|protein_coding||c.*1062G>C|||||2969|,G|non_coding_exon_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay|1/9|n.-40G>C|||||| 22 41252593 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding|1/12|c.-49C>T|||||49|,A|5_prime_UTR_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay|1/9|n.-49C>T|||||49|,A|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding||c.-85G>A|||||509|,A|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000411695|protein_coding||c.-63C>T|||||1991|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000417688|retained_intron||n.-1G>A|||||488|,A|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding||c.-99G>A|||||495|,A|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000414396|protein_coding||c.-93G>A|||||501|,A|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000482652|processed_transcript||n.-1G>A|||||508|,A|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay||n.-52G>A|||||542|,A|downstream_gene_variant|MODIFIER|DNAJB7|ENSG00000172404|transcript|ENST00000307221|protein_coding||c.*1062C>T|||||2960|,A|non_coding_exon_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay|1/9|n.-49C>T|||||| 22 41253163 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|1/10|c.-23C>T|||||23|,T|5_prime_UTR_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding|1/7|c.-23C>T|||||23|,T|5_prime_UTR_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000414396|protein_coding|1/5|c.-23C>T|||||23|,T|5_prime_UTR_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|1/11|n.-23C>T|||||23|,T|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding||c.-483G>A|||||137|,T|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay||n.-77G>A|||||543|,T|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000411695|protein_coding||c.-63G>A|||||2561|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|DNAJB7|ENSG00000172404|transcript|ENST00000307221|protein_coding||c.*1062G>A|||||2390|,T|non_coding_exon_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000417688|retained_intron|1/3|n.83C>T||||||,T|non_coding_exon_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000482652|processed_transcript|1/3|n.63C>T||||||,T|non_coding_exon_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|1/11|n.-23C>T|||||| 22 41253248 . A G . . ANN=G|splice_region_variant&synonymous_variant|LOW|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|1/10|c.63A>G|p.Ser21Ser|147/7988|63/1524|21/507||,G|splice_region_variant&non_coding_exon_variant|LOW|XPNPEP3|ENSG00000196236|transcript|ENST00000417688|retained_intron|1/3|n.168A>G||||||,G|splice_region_variant&synonymous_variant|LOW|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding|1/7|c.63A>G|p.Ser21Ser|161/1042|63/867|21/288||,G|splice_region_variant&synonymous_variant|LOW|XPNPEP3|ENSG00000196236|transcript|ENST00000414396|protein_coding|1/5|c.63A>G|p.Ser21Ser|155/929|63/837|21/278||,G|splice_region_variant&non_coding_exon_variant|LOW|XPNPEP3|ENSG00000196236|transcript|ENST00000482652|processed_transcript|1/3|n.148A>G||||||,G|splice_region_variant&non_coding_exon_variant|LOW|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|1/11|n.63A>G||||||,G|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding||c.-483T>C|||||222|,G|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay||n.-77T>C|||||628|,G|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000411695|protein_coding||c.-63T>C|||||2646|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|DNAJB7|ENSG00000172404|transcript|ENST00000307221|protein_coding||c.*1062T>C|||||2305| 22 41253293 . A T . . ANN=T|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding||c.-483T>A|||||267|,T|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay||n.-77T>A|||||673|,T|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000411695|protein_coding||c.-63T>A|||||2691|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding||c.-421A>T|||||4976|,T|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000465258|processed_transcript||n.-1A>T|||||4977|,T|downstream_gene_variant|MODIFIER|DNAJB7|ENSG00000172404|transcript|ENST00000307221|protein_coding||c.*1062T>A|||||2260|,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|1/9|c.64+44A>T||||||,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000417688|retained_intron|1/2|n.169+44A>T||||||,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding|1/6|c.64+44A>T||||||,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000414396|protein_coding|1/4|c.64+44A>T||||||,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000482652|processed_transcript|1/2|n.149+44A>T||||||,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|1/10|n.64+44A>T|||||| 22 41253296 . G T . . ANN=T|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding||c.-483C>A|||||270|,T|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay||n.-77C>A|||||676|,T|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000411695|protein_coding||c.-63C>A|||||2694|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding||c.-421G>T|||||4973|,T|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000465258|processed_transcript||n.-1G>T|||||4974|,T|downstream_gene_variant|MODIFIER|DNAJB7|ENSG00000172404|transcript|ENST00000307221|protein_coding||c.*1062C>A|||||2257|,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|1/9|c.64+47G>T||||||,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000417688|retained_intron|1/2|n.169+47G>T||||||,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding|1/6|c.64+47G>T||||||,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000414396|protein_coding|1/4|c.64+47G>T||||||,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000482652|processed_transcript|1/2|n.149+47G>T||||||,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|1/10|n.64+47G>T|||||| 22 41253297 . A T . . ANN=T|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding||c.-483T>A|||||271|,T|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay||n.-77T>A|||||677|,T|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000411695|protein_coding||c.-63T>A|||||2695|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding||c.-421A>T|||||4972|,T|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000465258|processed_transcript||n.-1A>T|||||4973|,T|downstream_gene_variant|MODIFIER|DNAJB7|ENSG00000172404|transcript|ENST00000307221|protein_coding||c.*1062T>A|||||2256|,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|1/9|c.64+48A>T||||||,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000417688|retained_intron|1/2|n.169+48A>T||||||,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding|1/6|c.64+48A>T||||||,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000414396|protein_coding|1/4|c.64+48A>T||||||,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000482652|processed_transcript|1/2|n.149+48A>T||||||,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|1/10|n.64+48A>T|||||| 22 41257051 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|DNAJB7|ENSG00000172404|transcript|ENST00000307221|protein_coding|1/1|c.*18A>G|||||18|,C|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding||c.-483A>G|||||4025|,C|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay||n.-77A>G|||||4431|,C|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding||c.-421T>C|||||1218|,C|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000465258|processed_transcript||n.-1T>C|||||1219|,C|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|1/9|c.64+3802T>C||||||,C|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000417688|retained_intron|1/2|n.169+3802T>C||||||,C|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding|1/6|c.64+3802T>C||||||,C|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000414396|protein_coding|1/4|c.64+3802T>C||||||,C|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000482652|processed_transcript|2/2|n.265+254T>C||||||,C|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|1/10|n.64+3802T>C|||||| 22 41257213 . G A . . ANN=A|synonymous_variant|LOW|DNAJB7|ENSG00000172404|transcript|ENST00000307221|protein_coding|1/1|c.786C>T|p.Phe262Phe|918/2578|786/930|262/309||,A|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding||c.-483C>T|||||4187|,A|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay||n.-77C>T|||||4593|,A|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding||c.-421G>A|||||1056|,A|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000465258|processed_transcript||n.-1G>A|||||1057|,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|1/9|c.64+3964G>A||||||,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000417688|retained_intron|1/2|n.169+3964G>A||||||,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding|1/6|c.64+3964G>A||||||,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000414396|protein_coding|1/4|c.64+3964G>A||||||,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000482652|processed_transcript|2/2|n.266-409G>A||||||,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|1/10|n.64+3964G>A|||||| 22 41257393 . C A . . ANN=A|missense_variant|MODERATE|DNAJB7|ENSG00000172404|transcript|ENST00000307221|protein_coding|1/1|c.606G>T|p.Lys202Asn|738/2578|606/930|202/309||,A|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding||c.-483G>T|||||4367|,A|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay||n.-77G>T|||||4773|,A|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding||c.-421C>A|||||876|,A|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000465258|processed_transcript||n.-1C>A|||||877|,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|1/9|c.64+4144C>A||||||,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000417688|retained_intron|1/2|n.169+4144C>A||||||,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding|1/6|c.64+4144C>A||||||,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000414396|protein_coding|1/4|c.64+4144C>A||||||,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000482652|processed_transcript|2/2|n.266-229C>A||||||,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|1/10|n.64+4144C>A|||||| 22 41257440 . C G . . ANN=G|missense_variant|MODERATE|DNAJB7|ENSG00000172404|transcript|ENST00000307221|protein_coding|1/1|c.559G>C|p.Val187Leu|691/2578|559/930|187/309||,G|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding||c.-483G>C|||||4414|,G|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay||n.-77G>C|||||4820|,G|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding||c.-421C>G|||||829|,G|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000465258|processed_transcript||n.-1C>G|||||830|,G|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|1/9|c.64+4191C>G||||||,G|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000417688|retained_intron|1/2|n.169+4191C>G||||||,G|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding|1/6|c.64+4191C>G||||||,G|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000414396|protein_coding|1/4|c.64+4191C>G||||||,G|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000482652|processed_transcript|2/2|n.266-182C>G||||||,G|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|1/10|n.64+4191C>G|||||| 22 41257470 . C G . . ANN=G|missense_variant|MODERATE|DNAJB7|ENSG00000172404|transcript|ENST00000307221|protein_coding|1/1|c.529G>C|p.Asp177His|661/2578|529/930|177/309||,G|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding||c.-483G>C|||||4444|,G|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay||n.-77G>C|||||4850|,G|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding||c.-421C>G|||||799|,G|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000465258|processed_transcript||n.-1C>G|||||800|,G|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|1/9|c.64+4221C>G||||||,G|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000417688|retained_intron|1/2|n.169+4221C>G||||||,G|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding|1/6|c.64+4221C>G||||||,G|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000414396|protein_coding|1/4|c.64+4221C>G||||||,G|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000482652|processed_transcript|2/2|n.266-152C>G||||||,G|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|1/10|n.64+4221C>G|||||| 22 41257503 . C T . . ANN=T|missense_variant|MODERATE|DNAJB7|ENSG00000172404|transcript|ENST00000307221|protein_coding|1/1|c.496G>A|p.Glu166Lys|628/2578|496/930|166/309||,T|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding||c.-483G>A|||||4477|,T|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay||n.-77G>A|||||4883|,T|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding||c.-421C>T|||||766|,T|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000465258|processed_transcript||n.-1C>T|||||767|,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|1/9|c.64+4254C>T||||||,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000417688|retained_intron|1/2|n.169+4254C>T||||||,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding|1/6|c.64+4254C>T||||||,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000414396|protein_coding|1/4|c.64+4254C>T||||||,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000482652|processed_transcript|2/2|n.266-119C>T||||||,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|1/10|n.64+4254C>T|||||| 22 41257518 . CCT C . . ANN=|frameshift_variant|HIGH|DNAJB7|ENSG00000172404|transcript|ENST00000307221|protein_coding|1/1|c.479_480delAG|p.Gln160fs|612/2578|479/930|160/309||,|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding||c.-483_-483delAG|||||4493|,|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay||n.-77_-77delAG|||||4899|,|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding||c.-421_-421delCT|||||750|,|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000465258|processed_transcript||n.-1_-1delCT|||||751|,|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|1/9|c.64+4270_64+4271delCT||||||,|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000417688|retained_intron|1/2|n.169+4270_169+4271delCT||||||,|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding|1/6|c.64+4270_64+4271delCT||||||,|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000414396|protein_coding|1/4|c.64+4270_64+4271delCT||||||,|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000482652|processed_transcript|2/2|n.266-103_266-102delCT||||||,|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|1/10|n.64+4270_64+4271delCT||||||;LOF=(DNAJB7|ENSG00000172404|1|1.00) 22 41257566 . G T . . ANN=T|missense_variant|MODERATE|DNAJB7|ENSG00000172404|transcript|ENST00000307221|protein_coding|1/1|c.433C>A|p.Pro145Thr|565/2578|433/930|145/309||,T|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding||c.-483C>A|||||4540|,T|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay||n.-77C>A|||||4946|,T|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding||c.-421G>T|||||703|,T|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000465258|processed_transcript||n.-1G>T|||||704|,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|1/9|c.64+4317G>T||||||,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000417688|retained_intron|1/2|n.169+4317G>T||||||,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding|1/6|c.64+4317G>T||||||,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000414396|protein_coding|1/4|c.64+4317G>T||||||,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000482652|processed_transcript|2/2|n.266-56G>T||||||,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|1/10|n.64+4317G>T|||||| 22 41257567 . A G . . ANN=G|synonymous_variant|LOW|DNAJB7|ENSG00000172404|transcript|ENST00000307221|protein_coding|1/1|c.432T>C|p.Tyr144Tyr|564/2578|432/930|144/309||,G|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding||c.-483T>C|||||4541|,G|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay||n.-77T>C|||||4947|,G|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding||c.-421A>G|||||702|,G|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000465258|processed_transcript||n.-1A>G|||||703|,G|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|1/9|c.64+4318A>G||||||,G|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000417688|retained_intron|1/2|n.169+4318A>G||||||,G|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding|1/6|c.64+4318A>G||||||,G|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000414396|protein_coding|1/4|c.64+4318A>G||||||,G|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000482652|processed_transcript|2/2|n.266-55A>G||||||,G|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|1/10|n.64+4318A>G|||||| 22 41257620 . A C . . ANN=C|splice_acceptor_variant&intron_variant|HIGH|XPNPEP3|ENSG00000196236|transcript|ENST00000482652|processed_transcript|2/2|n.266-2A>C||||||,C|missense_variant|MODERATE|DNAJB7|ENSG00000172404|transcript|ENST00000307221|protein_coding|1/1|c.379T>G|p.Tyr127Asp|511/2578|379/930|127/309||,C|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding||c.-483T>G|||||4594|,C|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay||n.-77T>G|||||5000|,C|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding||c.-421A>C|||||649|,C|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000465258|processed_transcript||n.-1A>C|||||650|,C|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|1/9|c.64+4371A>C||||||,C|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000417688|retained_intron|1/2|n.169+4371A>C||||||,C|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding|1/6|c.64+4371A>C||||||,C|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000414396|protein_coding|1/4|c.64+4371A>C||||||,C|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|1/10|n.64+4371A>C|||||| 22 41257628 . C A . . ANN=A|missense_variant|MODERATE|DNAJB7|ENSG00000172404|transcript|ENST00000307221|protein_coding|1/1|c.371G>T|p.Gly124Val|503/2578|371/930|124/309||,A|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding||c.-483G>T|||||4602|,A|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding||c.-421C>A|||||641|,A|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000465258|processed_transcript||n.-1C>A|||||642|,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|1/9|c.64+4379C>A||||||,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000417688|retained_intron|1/2|n.169+4379C>A||||||,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding|1/6|c.64+4379C>A||||||,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000414396|protein_coding|1/4|c.64+4379C>A||||||,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|1/10|n.64+4379C>A||||||,A|non_coding_exon_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000482652|processed_transcript|3/3|n.272C>A|||||| 22 41257631 . G A . . ANN=A|missense_variant|MODERATE|DNAJB7|ENSG00000172404|transcript|ENST00000307221|protein_coding|1/1|c.368C>T|p.Pro123Leu|500/2578|368/930|123/309||,A|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding||c.-483C>T|||||4605|,A|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding||c.-421G>A|||||638|,A|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000465258|processed_transcript||n.-1G>A|||||639|,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|1/9|c.64+4382G>A||||||,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000417688|retained_intron|1/2|n.169+4382G>A||||||,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding|1/6|c.64+4382G>A||||||,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000414396|protein_coding|1/4|c.64+4382G>A||||||,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|1/10|n.64+4382G>A||||||,A|non_coding_exon_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000482652|processed_transcript|3/3|n.275G>A|||||| 22 41257739 . C G . . ANN=G|missense_variant|MODERATE|DNAJB7|ENSG00000172404|transcript|ENST00000307221|protein_coding|1/1|c.260G>C|p.Gly87Ala|392/2578|260/930|87/309||,G|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding||c.-483G>C|||||4713|,G|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding||c.-421C>G|||||530|,G|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000465258|processed_transcript||n.-1C>G|||||531|,G|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|1/9|c.64+4490C>G||||||,G|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000417688|retained_intron|1/2|n.169+4490C>G||||||,G|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding|1/6|c.64+4490C>G||||||,G|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000414396|protein_coding|1/4|c.64+4490C>G||||||,G|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|1/10|n.64+4490C>G||||||,G|non_coding_exon_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000482652|processed_transcript|3/3|n.383C>G|||||| 22 41257741 . G A . . ANN=A|synonymous_variant|LOW|DNAJB7|ENSG00000172404|transcript|ENST00000307221|protein_coding|1/1|c.258C>T|p.Tyr86Tyr|390/2578|258/930|86/309||,A|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding||c.-483C>T|||||4715|,A|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding||c.-421G>A|||||528|,A|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000465258|processed_transcript||n.-1G>A|||||529|,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|1/9|c.64+4492G>A||||||,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000417688|retained_intron|1/2|n.169+4492G>A||||||,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding|1/6|c.64+4492G>A||||||,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000414396|protein_coding|1/4|c.64+4492G>A||||||,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|1/10|n.64+4492G>A||||||,A|non_coding_exon_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000482652|processed_transcript|3/3|n.385G>A|||||| 22 41257802 . T C . . ANN=C|missense_variant|MODERATE|DNAJB7|ENSG00000172404|transcript|ENST00000307221|protein_coding|1/1|c.197A>G|p.Asp66Gly|329/2578|197/930|66/309||,C|sequence_feature|LOW|DNAJB7|ENSG00000172404|domain:J|ENST00000307221|protein_coding|1/1|c.197A>G||||||,C|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding||c.-483A>G|||||4776|,C|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding||c.-421T>C|||||467|,C|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000465258|processed_transcript||n.-1T>C|||||468|,C|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|1/9|c.64+4553T>C||||||,C|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000417688|retained_intron|1/2|n.169+4553T>C||||||,C|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding|1/6|c.64+4553T>C||||||,C|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000414396|protein_coding|1/4|c.64+4553T>C||||||,C|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|1/10|n.64+4553T>C||||||,C|non_coding_exon_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000482652|processed_transcript|3/3|n.446T>C|||||| 22 41257815 . G A . . ANN=A|missense_variant|MODERATE|DNAJB7|ENSG00000172404|transcript|ENST00000307221|protein_coding|1/1|c.184C>T|p.Arg62Trp|316/2578|184/930|62/309||,A|sequence_feature|LOW|DNAJB7|ENSG00000172404|domain:J|ENST00000307221|protein_coding|1/1|c.184C>T||||||,A|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding||c.-483C>T|||||4789|,A|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding||c.-421G>A|||||454|,A|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000465258|processed_transcript||n.-1G>A|||||455|,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|1/9|c.64+4566G>A||||||,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000417688|retained_intron|1/2|n.169+4566G>A||||||,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding|1/6|c.64+4566G>A||||||,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000414396|protein_coding|1/4|c.64+4566G>A||||||,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|1/10|n.64+4566G>A||||||,A|non_coding_exon_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000482652|processed_transcript|3/3|n.459G>A|||||| 22 41257835 . A AC . . ANN=C|frameshift_variant|HIGH|DNAJB7|ENSG00000172404|transcript|ENST00000307221|protein_coding|1/1|c.163dupG|p.Val55fs|295/2578|163/930|55/309||,C|sequence_feature|LOW|DNAJB7|ENSG00000172404|domain:J|ENST00000307221|protein_coding|1/1|c.163dupG||||||,C|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding||c.-483dupG|||||4810|,C|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding||c.-421_-421insC|||||433|,C|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000465258|processed_transcript||n.-1_-1insC|||||434|,C|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|1/9|c.64+4588dupC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000417688|retained_intron|1/2|n.169+4588dupC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding|1/6|c.64+4588dupC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000414396|protein_coding|1/4|c.64+4588dupC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|1/10|n.64+4588dupC||||||INFO_REALIGN_3_PRIME,C|non_coding_exon_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000482652|processed_transcript|3/3|n.481dupC||||||INFO_REALIGN_3_PRIME;LOF=(DNAJB7|ENSG00000172404|1|1.00) 22 41257853 . ACTT A . . ANN=|disruptive_inframe_deletion|MODERATE|DNAJB7|ENSG00000172404|transcript|ENST00000307221|protein_coding|1/1|c.143_145delAAG|p.Glu48del|277/2578|143/930|48/309||,|sequence_feature|LOW|DNAJB7|ENSG00000172404|domain:J|ENST00000307221|protein_coding|1/1|c.143_145delAAG||||||,|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding||c.-483_-483delAAG|||||4828|,|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding||c.-421_-421delCTT|||||415|,|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000465258|processed_transcript||n.-1_-1delCTT|||||416|,|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|1/9|c.64+4608_64+4610delCTT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000417688|retained_intron|1/2|n.169+4608_169+4610delCTT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding|1/6|c.64+4608_64+4610delCTT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000414396|protein_coding|1/4|c.64+4608_64+4610delCTT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|1/10|n.64+4608_64+4610delCTT||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000482652|processed_transcript|3/3|n.501_503delCTT||||||INFO_REALIGN_3_PRIME 22 41257877 . T G . . ANN=G|missense_variant|MODERATE|DNAJB7|ENSG00000172404|transcript|ENST00000307221|protein_coding|1/1|c.122A>C|p.Glu41Ala|254/2578|122/930|41/309||,G|sequence_feature|LOW|DNAJB7|ENSG00000172404|domain:J|ENST00000307221|protein_coding|1/1|c.122A>C||||||,G|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding||c.-483A>C|||||4851|,G|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding||c.-421T>G|||||392|,G|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000465258|processed_transcript||n.-1T>G|||||393|,G|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|1/9|c.64+4628T>G||||||,G|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000417688|retained_intron|1/2|n.169+4628T>G||||||,G|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding|1/6|c.64+4628T>G||||||,G|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000414396|protein_coding|1/4|c.64+4628T>G||||||,G|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|1/10|n.64+4628T>G||||||,G|non_coding_exon_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000482652|processed_transcript|3/3|n.521T>G|||||| 22 41257977 . G T . . ANN=T|missense_variant|MODERATE|DNAJB7|ENSG00000172404|transcript|ENST00000307221|protein_coding|1/1|c.22C>A|p.Leu8Ile|154/2578|22/930|8/309||,T|sequence_feature|LOW|DNAJB7|ENSG00000172404|domain:J|ENST00000307221|protein_coding|1/1|c.22C>A||||||,T|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding||c.-483C>A|||||4951|,T|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding||c.-421G>T|||||292|,T|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000465258|processed_transcript||n.-1G>T|||||293|,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|1/9|c.64+4728G>T||||||,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000417688|retained_intron|1/2|n.169+4728G>T||||||,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding|1/6|c.64+4728G>T||||||,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000414396|protein_coding|1/4|c.64+4728G>T||||||,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|1/10|n.64+4728G>T||||||,T|non_coding_exon_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000482652|processed_transcript|3/3|n.621G>T|||||| 22 41265049 . A G . . ANN=G|synonymous_variant|LOW|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|2/10|c.111A>G|p.Pro37Pro|195/7988|111/1524|37/507||,G|synonymous_variant|LOW|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding|2/7|c.111A>G|p.Pro37Pro|209/1042|111/867|37/288||,G|synonymous_variant|LOW|XPNPEP3|ENSG00000196236|transcript|ENST00000414396|protein_coding|2/5|c.111A>G|p.Pro37Pro|203/929|111/837|37/278||,G|synonymous_variant|LOW|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding|2/14|c.42A>G|p.Pro14Pro|462/2249|42/1455|14/484||,G|non_coding_exon_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000417688|retained_intron|2/3|n.216A>G||||||,G|non_coding_exon_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|2/11|n.111A>G||||||,G|non_coding_exon_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000465258|processed_transcript|2/3|n.461A>G|||||| 22 41265054 . G A . . ANN=A|missense_variant|MODERATE|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|2/10|c.116G>A|p.Arg39Lys|200/7988|116/1524|39/507||,A|missense_variant|MODERATE|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding|2/7|c.116G>A|p.Arg39Lys|214/1042|116/867|39/288||,A|missense_variant|MODERATE|XPNPEP3|ENSG00000196236|transcript|ENST00000414396|protein_coding|2/5|c.116G>A|p.Arg39Lys|208/929|116/837|39/278||,A|missense_variant|MODERATE|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding|2/14|c.47G>A|p.Arg16Lys|467/2249|47/1455|16/484||,A|non_coding_exon_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000417688|retained_intron|2/3|n.221G>A||||||,A|non_coding_exon_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|2/11|n.116G>A||||||,A|non_coding_exon_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000465258|processed_transcript|2/3|n.466G>A|||||| 22 41265143 . C T . . ANN=T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|2/9|c.181+24C>T||||||,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000417688|retained_intron|2/2|n.286+24C>T||||||,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding|2/6|c.181+24C>T||||||,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000414396|protein_coding|2/4|c.181+24C>T||||||,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|2/10|n.181+24C>T||||||,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding|2/13|c.112+24C>T||||||,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000465258|processed_transcript|2/2|n.531+24C>T|||||| 22 41277919 . C T . . ANN=T|synonymous_variant|LOW|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|3/10|c.327C>T|p.Asn109Asn|411/7988|327/1524|109/507||,T|synonymous_variant|LOW|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding|3/7|c.327C>T|p.Asn109Asn|425/1042|327/867|109/288||,T|synonymous_variant|LOW|XPNPEP3|ENSG00000196236|transcript|ENST00000414396|protein_coding|3/5|c.327C>T|p.Asn109Asn|419/929|327/837|109/278||,T|synonymous_variant|LOW|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding|3/14|c.258C>T|p.Asn86Asn|678/2249|258/1455|86/484||,T|3_prime_UTR_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|4/11|n.*209C>T|||||11839|,T|non_coding_exon_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|4/11|n.*209C>T||||||,T|non_coding_exon_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000465258|processed_transcript|3/3|n.677C>T|||||| 22 41282308 . C T . . ANN=T|downstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000465258|processed_transcript||n.*686C>T|||||4380|,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|3/9|c.590-9C>T||||||,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding|3/6|c.590-9C>T||||||,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000414396|protein_coding|3/4|c.590-9C>T||||||,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|4/10|n.*472-9C>T||||||,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding|3/13|c.521-9C>T|||||| 22 41282309 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|3/9|c.590-8A>G||||||,G|splice_region_variant&intron_variant|LOW|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding|3/6|c.590-8A>G||||||,G|splice_region_variant&intron_variant|LOW|XPNPEP3|ENSG00000196236|transcript|ENST00000414396|protein_coding|3/4|c.590-8A>G||||||,G|splice_region_variant&intron_variant|LOW|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|4/10|n.*472-8A>G||||||,G|splice_region_variant&intron_variant|LOW|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding|3/13|c.521-8A>G||||||,G|downstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000465258|processed_transcript||n.*686A>G|||||4381| 22 41282324 . G A . . ANN=A|synonymous_variant|LOW|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|4/10|c.597G>A|p.Thr199Thr|681/7988|597/1524|199/507||,A|synonymous_variant|LOW|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding|4/7|c.597G>A|p.Thr199Thr|695/1042|597/867|199/288||,A|synonymous_variant|LOW|XPNPEP3|ENSG00000196236|transcript|ENST00000414396|protein_coding|4/5|c.597G>A|p.Thr199Thr|689/929|597/837|199/278||,A|synonymous_variant|LOW|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding|4/14|c.528G>A|p.Thr176Thr|948/2249|528/1455|176/484||,A|3_prime_UTR_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|5/11|n.*479G>A|||||16244|,A|downstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000465258|processed_transcript||n.*686G>A|||||4396|,A|non_coding_exon_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|5/11|n.*479G>A|||||| 22 41282501 . T C . . ANN=C|synonymous_variant|LOW|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|4/10|c.774T>C|p.Ala258Ala|858/7988|774/1524|258/507||,C|synonymous_variant|LOW|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding|4/7|c.774T>C|p.Ala258Ala|872/1042|774/867|258/288||,C|synonymous_variant|LOW|XPNPEP3|ENSG00000196236|transcript|ENST00000414396|protein_coding|4/5|c.774T>C|p.Ala258Ala|866/929|774/837|258/278||,C|synonymous_variant|LOW|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding|4/14|c.705T>C|p.Ala235Ala|1125/2249|705/1455|235/484||,C|3_prime_UTR_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|5/11|n.*656T>C|||||16421|,C|downstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000465258|processed_transcript||n.*686T>C|||||4573|,C|non_coding_exon_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|5/11|n.*656T>C|||||| 22 41282558 . G A . . ANN=A|downstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000465258|processed_transcript||n.*686G>A|||||4630|,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|4/9|c.792+39G>A||||||,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding|4/6|c.792+39G>A||||||,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000414396|protein_coding|4/4|c.792+39G>A||||||,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|5/10|n.*674+39G>A||||||,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding|4/13|c.723+39G>A|||||| 22 41303615 . A G . . ANN=G|missense_variant|MODERATE|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|5/10|c.817A>G|p.Ser273Gly|901/7988|817/1524|273/507||,G|missense_variant|MODERATE|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding|5/14|c.748A>G|p.Ser250Gly|1168/2249|748/1455|250/484||,G|3_prime_UTR_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding|6/7|c.*15A>G|||||15|,G|3_prime_UTR_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|6/11|n.*699A>G|||||37535|,G|non_coding_exon_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|6/11|n.*699A>G|||||| 22 41303689 . G A . . ANN=A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|5/9|c.855+36G>A||||||,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding|6/6|c.*53+36G>A||||||,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|6/10|n.*737+36G>A||||||,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding|5/13|c.786+36G>A|||||| 22 41305076 . G A . . ANN=A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|5/9|c.856-50G>A||||||,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding|6/6|c.*54-50G>A||||||,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|6/10|n.*738-50G>A||||||,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding|5/13|c.787-50G>A|||||| 22 41305106 . CT C . . ANN=|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|5/9|c.856-18delT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding|6/6|c.*54-18delT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|6/10|n.*738-18delT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding|5/13|c.787-18delT||||||INFO_REALIGN_3_PRIME 22 41305166 . C T . . ANN=T|missense_variant|MODERATE|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|6/10|c.896C>T|p.Ala299Val|980/7988|896/1524|299/507||,T|missense_variant|MODERATE|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding|6/14|c.827C>T|p.Ala276Val|1247/2249|827/1455|276/484||,T|3_prime_UTR_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|7/11|n.*778C>T|||||39086|,T|downstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding||c.*965C>T|||||17|,T|non_coding_exon_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|7/11|n.*778C>T|||||| 22 41310203 . C G . . ANN=G|upstream_gene_variant|MODIFIER|snoU13|ENSG00000238887|transcript|ENST00000459164|snoRNA||n.-1C>G|||||680|,G|upstream_gene_variant|MODIFIER|RNU6-379P|ENSG00000200683|transcript|ENST00000363813|snRNA||n.-1C>G|||||3544|,G|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|6/9|c.970-40C>G||||||,G|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|7/10|n.*852-40C>G||||||,G|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding|6/13|c.901-40C>G|||||| 22 41310234 . T C . . ANN=C|upstream_gene_variant|MODIFIER|snoU13|ENSG00000238887|transcript|ENST00000459164|snoRNA||n.-1T>C|||||649|,C|upstream_gene_variant|MODIFIER|RNU6-379P|ENSG00000200683|transcript|ENST00000363813|snRNA||n.-1T>C|||||3513|,C|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|6/9|c.970-9T>C||||||,C|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|7/10|n.*852-9T>C||||||,C|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding|6/13|c.901-9T>C|||||| 22 41310343 . G A . . ANN=A|upstream_gene_variant|MODIFIER|snoU13|ENSG00000238887|transcript|ENST00000459164|snoRNA||n.-1G>A|||||540|,A|upstream_gene_variant|MODIFIER|RNU6-379P|ENSG00000200683|transcript|ENST00000363813|snRNA||n.-1G>A|||||3404|,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|7/9|c.1055+15G>A||||||,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|8/10|n.*937+15G>A||||||,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding|7/13|c.986+15G>A|||||| 22 41318328 . C T . . ANN=T|downstream_gene_variant|MODIFIER|RNU6-379P|ENSG00000200683|transcript|ENST00000363813|snRNA||n.*104C>T|||||4478|,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|7/9|c.1056-9C>T||||||,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|8/10|n.*938-9C>T||||||,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding|7/13|c.987-9C>T|||||| 22 41318329 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|7/9|c.1056-8G>A||||||,A|splice_region_variant&intron_variant|LOW|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|8/10|n.*938-8G>A||||||,A|splice_region_variant&intron_variant|LOW|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding|7/13|c.987-8G>A||||||,A|downstream_gene_variant|MODIFIER|RNU6-379P|ENSG00000200683|transcript|ENST00000363813|snRNA||n.*104G>A|||||4479| 22 41318366 . A C . . ANN=C|missense_variant|MODERATE|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|8/10|c.1085A>C|p.Glu362Ala|1169/7988|1085/1524|362/507||,C|missense_variant|MODERATE|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding|8/14|c.1016A>C|p.Glu339Ala|1436/2249|1016/1455|339/484||,C|3_prime_UTR_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|9/11|n.*967A>C|||||52286|,C|downstream_gene_variant|MODIFIER|RNU6-379P|ENSG00000200683|transcript|ENST00000363813|snRNA||n.*104A>C|||||4516|,C|non_coding_exon_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|9/11|n.*967A>C|||||| 22 41318539 . C T . . ANN=T|downstream_gene_variant|MODIFIER|RNU6-379P|ENSG00000200683|transcript|ENST00000363813|snRNA||n.*104C>T|||||4689|,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|8/9|c.1236+22C>T||||||,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|9/10|n.*1118+22C>T||||||,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding|8/13|c.1167+22C>T|||||| 22 41320390 . C G . . ANN=G|missense_variant|MODERATE|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|9/10|c.1261C>G|p.His421Asp|1345/7988|1261/1524|421/507||,G|missense_variant|MODERATE|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding|9/14|c.1192C>G|p.His398Asp|1612/2249|1192/1455|398/484||,G|3_prime_UTR_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|10/11|n.*1143C>G|||||54310|,G|non_coding_exon_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|10/11|n.*1143C>G|||||| 22 41320505 . A G . . ANN=G|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|9/9|c.1357+19A>G||||||,G|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|10/10|n.*1239+19A>G||||||,G|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding|9/13|c.1288+19A>G|||||| 22 41322392 . C G . . ANN=G|missense_variant|MODERATE|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|10/10|c.1477C>G|p.Pro493Ala|1561/7988|1477/1524|493/507||,G|missense_variant|MODERATE|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding|10/14|c.1408C>G|p.Pro470Ala|1828/2249|1408/1455|470/484||,G|3_prime_UTR_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|11/11|n.*1359C>G|||||56312|,G|non_coding_exon_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|11/11|n.*1359C>G|||||| 22 41322422 . T C . . ANN=C|missense_variant|MODERATE|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|10/10|c.1507T>C|p.Cys503Arg|1591/7988|1507/1524|503/507||,C|missense_variant|MODERATE|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding|10/14|c.1438T>C|p.Cys480Arg|1858/2249|1438/1455|480/484||,C|3_prime_UTR_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|11/11|n.*1389T>C|||||56342|,C|non_coding_exon_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|11/11|n.*1389T>C|||||| 22 41347387 . A C . . ANN=C|5_prime_UTR_variant|MODIFIER|RBX1|ENSG00000100387|transcript|ENST00000216225|protein_coding|1/5|c.-16A>C|||||16|,C|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding|10/13|c.*29-2172A>C||||||,C|non_coding_exon_variant|MODIFIER|RBX1|ENSG00000100387|transcript|ENST00000476110|retained_intron|1/3|n.37A>C|||||| 22 41347390 . G C . . ANN=C|5_prime_UTR_premature_start_codon_gain_variant|LOW|RBX1|ENSG00000100387|transcript|ENST00000216225|protein_coding|1/5|c.-13G>C||||||,C|5_prime_UTR_variant|MODIFIER|RBX1|ENSG00000100387|transcript|ENST00000216225|protein_coding|1/5|c.-13G>C|||||13|,C|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding|10/13|c.*29-2169G>C||||||,C|non_coding_exon_variant|MODIFIER|RBX1|ENSG00000100387|transcript|ENST00000476110|retained_intron|1/3|n.40G>C|||||| 22 41347529 . C A . . ANN=A|sequence_feature|LOW|RBX1|ENSG00000100387|beta_strand|ENST00000216225|protein_coding|2/5|c.78+49C>A||||||,A|sequence_feature|LOW|RBX1|ENSG00000100387|beta_strand|ENST00000216225|protein_coding|1/5|c.78+49C>A||||||,A|intron_variant|MODIFIER|RBX1|ENSG00000100387|transcript|ENST00000216225|protein_coding|1/4|c.78+49C>A||||||,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding|10/13|c.*29-2030C>A||||||,A|intron_variant|MODIFIER|RBX1|ENSG00000100387|transcript|ENST00000476110|retained_intron|1/2|n.130+49C>A|||||| 22 41349511 . G C . . ANN=C|sequence_feature|LOW|RBX1|ENSG00000100387|beta_strand|ENST00000216225|protein_coding|2/5|c.79-48G>C||||||,C|sequence_feature|LOW|RBX1|ENSG00000100387|beta_strand|ENST00000216225|protein_coding|1/5|c.79-48G>C||||||,C|intron_variant|MODIFIER|RBX1|ENSG00000100387|transcript|ENST00000216225|protein_coding|1/4|c.79-48G>C||||||,C|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding|10/13|c.*29-48G>C||||||,C|intron_variant|MODIFIER|RBX1|ENSG00000100387|transcript|ENST00000476110|retained_intron|1/2|n.131-48G>C|||||| 22 41360004 . G C . . ANN=C|sequence_feature|LOW|RBX1|ENSG00000100387|turn|ENST00000216225|protein_coding|3/5|c.158-47G>C||||||,C|sequence_feature|LOW|RBX1|ENSG00000100387|turn|ENST00000216225|protein_coding|2/5|c.158-47G>C||||||,C|sequence_feature|LOW|RBX1|ENSG00000100387|metal_ion-binding_site:Zinc_3|ENST00000216225|protein_coding|3/5|c.158-47G>C||||||,C|sequence_feature|LOW|RBX1|ENSG00000100387|metal_ion-binding_site:Zinc_3|ENST00000216225|protein_coding|2/5|c.158-47G>C||||||,C|sequence_feature|LOW|RBX1|ENSG00000100387|zinc_finger_region:RING-type|ENST00000216225|protein_coding|4/5|c.158-47G>C||||||,C|sequence_feature|LOW|RBX1|ENSG00000100387|zinc_finger_region:RING-type|ENST00000216225|protein_coding|3/5|c.158-47G>C||||||,C|sequence_feature|LOW|RBX1|ENSG00000100387|zinc_finger_region:RING-type|ENST00000216225|protein_coding|2/5|c.158-47G>C||||||,C|upstream_gene_variant|MODIFIER|RBX1|ENSG00000100387|transcript|ENST00000467617|retained_intron||n.-1G>C|||||2201|,C|intron_variant|MODIFIER|RBX1|ENSG00000100387|transcript|ENST00000216225|protein_coding|2/4|c.158-47G>C||||||,C|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding|12/13|c.*268-47G>C||||||,C|intron_variant|MODIFIER|RBX1|ENSG00000100387|transcript|ENST00000476110|retained_intron|2/2|n.210-47G>C|||||| 22 41368493 . GAA G . . ANN=|3_prime_UTR_variant|MODIFIER|RBX1|ENSG00000100387|transcript|ENST00000216225|protein_coding|5/5|c.*4_*5delAA|||||4|INFO_REALIGN_3_PRIME,|downstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding||c.*1875_*1875delAA|||||4656|,|non_coding_exon_variant|MODIFIER|RBX1|ENSG00000100387|transcript|ENST00000467617|retained_intron|2/2|n.1701_1702delAA||||||INFO_REALIGN_3_PRIME 22 41489077 . C T . . ANN=T|synonymous_variant|LOW|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|1/31|c.69C>T|p.Leu23Leu|1288/9585|69/7245|23/2414||,T|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_ALX1|ENST00000263253|protein_coding|2/31|c.69C>T||||||,T|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_ALX1|ENST00000263253|protein_coding|1/31|c.69C>T||||||,T|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_RORA|ENST00000263253|protein_coding|2/31|c.69C>T||||||,T|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_RORA|ENST00000263253|protein_coding|1/31|c.69C>T||||||,T|downstream_gene_variant|MODIFIER|MIR1281|ENSG00000221160|transcript|ENST00000408233|miRNA||n.*54C>T|||||507| 22 41489115 . A G . . ANN=G|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_ALX1|ENST00000263253|protein_coding|2/31|c.94+13A>G||||||,G|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_ALX1|ENST00000263253|protein_coding|1/31|c.94+13A>G||||||,G|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_RORA|ENST00000263253|protein_coding|2/31|c.94+13A>G||||||,G|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_RORA|ENST00000263253|protein_coding|1/31|c.94+13A>G||||||,G|sequence_feature|LOW|EP300|ENSG00000100393|site:Breakpoint_for_translocation_to_form_KAT6A-EP300_and_EP300-KAT6A|ENST00000263253|protein_coding|2/31|c.94+13A>G||||||,G|sequence_feature|LOW|EP300|ENSG00000100393|site:Breakpoint_for_translocation_to_form_KAT6A-EP300_and_EP300-KAT6A|ENST00000263253|protein_coding|1/31|c.94+13A>G||||||,G|downstream_gene_variant|MODIFIER|MIR1281|ENSG00000221160|transcript|ENST00000408233|miRNA||n.*54A>G|||||545|,G|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|1/30|c.94+13A>G|||||| 22 41489143 . C T . . ANN=T|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_ALX1|ENST00000263253|protein_coding|2/31|c.94+41C>T||||||,T|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_ALX1|ENST00000263253|protein_coding|1/31|c.94+41C>T||||||,T|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_RORA|ENST00000263253|protein_coding|2/31|c.94+41C>T||||||,T|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_RORA|ENST00000263253|protein_coding|1/31|c.94+41C>T||||||,T|sequence_feature|LOW|EP300|ENSG00000100393|site:Breakpoint_for_translocation_to_form_KAT6A-EP300_and_EP300-KAT6A|ENST00000263253|protein_coding|2/31|c.94+41C>T||||||,T|sequence_feature|LOW|EP300|ENSG00000100393|site:Breakpoint_for_translocation_to_form_KAT6A-EP300_and_EP300-KAT6A|ENST00000263253|protein_coding|1/31|c.94+41C>T||||||,T|downstream_gene_variant|MODIFIER|MIR1281|ENSG00000221160|transcript|ENST00000408233|miRNA||n.*54C>T|||||573|,T|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|1/30|c.94+41C>T|||||| 22 41489150 . A G . . ANN=G|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_ALX1|ENST00000263253|protein_coding|2/31|c.94+48A>G||||||,G|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_ALX1|ENST00000263253|protein_coding|1/31|c.94+48A>G||||||,G|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_RORA|ENST00000263253|protein_coding|2/31|c.94+48A>G||||||,G|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_RORA|ENST00000263253|protein_coding|1/31|c.94+48A>G||||||,G|sequence_feature|LOW|EP300|ENSG00000100393|site:Breakpoint_for_translocation_to_form_KAT6A-EP300_and_EP300-KAT6A|ENST00000263253|protein_coding|2/31|c.94+48A>G||||||,G|sequence_feature|LOW|EP300|ENSG00000100393|site:Breakpoint_for_translocation_to_form_KAT6A-EP300_and_EP300-KAT6A|ENST00000263253|protein_coding|1/31|c.94+48A>G||||||,G|downstream_gene_variant|MODIFIER|MIR1281|ENSG00000221160|transcript|ENST00000408233|miRNA||n.*54A>G|||||580|,G|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|1/30|c.94+48A>G|||||| 22 41513175 . T C . . ANN=C|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_ALX1|ENST00000263253|protein_coding|2/31|c.95-16T>C||||||,C|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_ALX1|ENST00000263253|protein_coding|1/31|c.95-16T>C||||||,C|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_RORA|ENST00000263253|protein_coding|2/31|c.95-16T>C||||||,C|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_RORA|ENST00000263253|protein_coding|1/31|c.95-16T>C||||||,C|sequence_feature|LOW|EP300|ENSG00000100393|site:Breakpoint_for_translocation_to_form_KAT6A-EP300_and_EP300-KAT6A|ENST00000263253|protein_coding|2/31|c.95-16T>C||||||,C|sequence_feature|LOW|EP300|ENSG00000100393|site:Breakpoint_for_translocation_to_form_KAT6A-EP300_and_EP300-KAT6A|ENST00000263253|protein_coding|1/31|c.95-16T>C||||||,C|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|1/30|c.95-16T>C|||||| 22 41513199 . T G . . ANN=G|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|2/31|c.103T>G|p.Ser35Ala|1322/9585|103/7245|35/2414||,G|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_ALX1|ENST00000263253|protein_coding|2/31|c.103T>G||||||,G|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_ALX1|ENST00000263253|protein_coding|1/31|c.103T>G||||||,G|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_RORA|ENST00000263253|protein_coding|2/31|c.103T>G||||||,G|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_RORA|ENST00000263253|protein_coding|1/31|c.103T>G|||||| 22 41513412 . A G . . ANN=G|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|2/31|c.316A>G|p.Ser106Gly|1535/9585|316/7245|106/2414||,G|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_ALX1|ENST00000263253|protein_coding|2/31|c.316A>G||||||,G|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_ALX1|ENST00000263253|protein_coding|1/31|c.316A>G||||||,G|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_RORA|ENST00000263253|protein_coding|2/31|c.316A>G||||||,G|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_RORA|ENST00000263253|protein_coding|1/31|c.316A>G|||||| 22 41513472 . A G . . ANN=G|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|2/31|c.376A>G|p.Met126Val|1595/9585|376/7245|126/2414||,G|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_ALX1|ENST00000263253|protein_coding|2/31|c.376A>G||||||,G|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_ALX1|ENST00000263253|protein_coding|1/31|c.376A>G||||||,G|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_RORA|ENST00000263253|protein_coding|2/31|c.376A>G||||||,G|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_RORA|ENST00000263253|protein_coding|1/31|c.376A>G|||||| 22 41513628 . T C . . ANN=C|synonymous_variant|LOW|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|2/31|c.532T>C|p.Leu178Leu|1751/9585|532/7245|178/2414|| 22 41513727 . G A . . ANN=A|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|2/31|c.631G>A|p.Gly211Ser|1850/9585|631/7245|211/2414|| 22 41513746 . A C . . ANN=C|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|2/31|c.650A>C|p.Asn217Thr|1869/9585|650/7245|217/2414|| 22 41513774 . C G . . ANN=G|synonymous_variant|LOW|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|2/31|c.678C>G|p.Gly226Gly|1897/9585|678/7245|226/2414|| 22 41521848 . CTTTTGTTTCT C . . ANN=|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|2/30|c.730-18_730-9delTTTGTTTCTT||||||INFO_REALIGN_3_PRIME 22 41521868 . A T . . ANN=T|missense_variant&splice_region_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|3/31|c.730A>T|p.Met244Leu|1949/9585|730/7245|244/2414|| 22 41521877 . A G . . ANN=G|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|3/31|c.739A>G|p.Met247Val|1958/9585|739/7245|247/2414|| 22 41522003 . A G . . ANN=G|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|3/31|c.865A>G|p.Met289Val|2084/9585|865/7245|289/2414|| 22 41523526 . C T . . ANN=T|synonymous_variant|LOW|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|4/31|c.942C>T|p.Gly314Gly|2161/9585|942/7245|314/2414|| 22 41523688 . C T . . ANN=T|synonymous_variant|LOW|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|4/31|c.1104C>T|p.His368His|2323/9585|1104/7245|368/2414||,T|sequence_feature|LOW|EP300|ENSG00000100393|zinc_finger_region:TAZ-type_1|ENST00000263253|protein_coding|4/31|c.1104C>T||||||,T|sequence_feature|LOW|EP300|ENSG00000100393|zinc_finger_region:TAZ-type_1|ENST00000263253|protein_coding|5/31|c.1104C>T||||||,T|sequence_feature|LOW|EP300|ENSG00000100393|helix|ENST00000263253|protein_coding|4/31|c.1104C>T|||||| 22 41523759 . G C . . ANN=C|splice_region_variant&intron_variant|LOW|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|4/30|c.1168+7G>C||||||,C|sequence_feature|LOW|EP300|ENSG00000100393|zinc_finger_region:TAZ-type_1|ENST00000263253|protein_coding|4/31|c.1168+7G>C||||||,C|sequence_feature|LOW|EP300|ENSG00000100393|zinc_finger_region:TAZ-type_1|ENST00000263253|protein_coding|5/31|c.1168+7G>C|||||| 22 41523770 . G A . . ANN=A|sequence_feature|LOW|EP300|ENSG00000100393|zinc_finger_region:TAZ-type_1|ENST00000263253|protein_coding|4/31|c.1168+18G>A||||||,A|sequence_feature|LOW|EP300|ENSG00000100393|zinc_finger_region:TAZ-type_1|ENST00000263253|protein_coding|5/31|c.1168+18G>A||||||,A|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|4/30|c.1168+18G>A|||||| 22 41523772 . T C . . ANN=C|sequence_feature|LOW|EP300|ENSG00000100393|zinc_finger_region:TAZ-type_1|ENST00000263253|protein_coding|4/31|c.1168+20T>C||||||,C|sequence_feature|LOW|EP300|ENSG00000100393|zinc_finger_region:TAZ-type_1|ENST00000263253|protein_coding|5/31|c.1168+20T>C||||||,C|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|4/30|c.1168+20T>C|||||| 22 41525845 . T C . . ANN=C|sequence_feature|LOW|EP300|ENSG00000100393|zinc_finger_region:TAZ-type_1|ENST00000263253|protein_coding|4/31|c.1169-49T>C||||||,C|sequence_feature|LOW|EP300|ENSG00000100393|zinc_finger_region:TAZ-type_1|ENST00000263253|protein_coding|5/31|c.1169-49T>C||||||,C|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|4/30|c.1169-49T>C|||||| 22 41525859 . C T . . ANN=T|sequence_feature|LOW|EP300|ENSG00000100393|zinc_finger_region:TAZ-type_1|ENST00000263253|protein_coding|4/31|c.1169-35C>T||||||,T|sequence_feature|LOW|EP300|ENSG00000100393|zinc_finger_region:TAZ-type_1|ENST00000263253|protein_coding|5/31|c.1169-35C>T||||||,T|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|4/30|c.1169-35C>T|||||| 22 41526036 . T C . . ANN=C|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|5/30|c.1282+29T>C|||||| 22 41527376 . C T . . ANN=T|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|5/30|c.1283-16C>T|||||| 22 41527384 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|5/30|c.1283-8T>C|||||| 22 41527386 . C G . . ANN=G|splice_region_variant&intron_variant|LOW|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|5/30|c.1283-6C>G|||||| 22 41527628 . A G . . ANN=G|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|6/31|c.1519A>G|p.Ser507Gly|2738/9585|1519/7245|507/2414|| 22 41527652 . T C . . ANN=C|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|6/30|c.1528+15T>C|||||| 22 41533637 . T C . . ANN=C|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|7/30|c.1623-20T>C|||||| 22 41533720 . A C . . ANN=C|synonymous_variant|LOW|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|8/31|c.1686A>C|p.Pro562Pro|2905/9585|1686/7245|562/2414|| 22 41533761 . C A . . ANN=A|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|8/31|c.1727C>A|p.Thr576Asn|2946/9585|1727/7245|576/2414||,A|sequence_feature|LOW|EP300|ENSG00000100393|domain:KIX|ENST00000263253|protein_coding|9/31|c.1727C>A||||||,A|sequence_feature|LOW|EP300|ENSG00000100393|domain:KIX|ENST00000263253|protein_coding|10/31|c.1727C>A||||||,A|sequence_feature|LOW|EP300|ENSG00000100393|domain:KIX|ENST00000263253|protein_coding|8/31|c.1727C>A|||||| 22 41533824 . G A . . ANN=A|sequence_feature|LOW|EP300|ENSG00000100393|domain:KIX|ENST00000263253|protein_coding|9/31|c.1760+30G>A||||||,A|sequence_feature|LOW|EP300|ENSG00000100393|domain:KIX|ENST00000263253|protein_coding|10/31|c.1760+30G>A||||||,A|sequence_feature|LOW|EP300|ENSG00000100393|domain:KIX|ENST00000263253|protein_coding|8/31|c.1760+30G>A||||||,A|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|8/30|c.1760+30G>A|||||| 22 41536112 . GAT G . . ANN=|sequence_feature|LOW|EP300|ENSG00000100393|domain:KIX|ENST00000263253|protein_coding|9/31|c.1761-31_1761-30delAT||||||,|sequence_feature|LOW|EP300|ENSG00000100393|domain:KIX|ENST00000263253|protein_coding|10/31|c.1761-31_1761-30delAT||||||,|sequence_feature|LOW|EP300|ENSG00000100393|domain:KIX|ENST00000263253|protein_coding|8/31|c.1761-31_1761-30delAT||||||,|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|8/30|c.1761-29_1761-28delAT||||||INFO_REALIGN_3_PRIME 22 41536165 . G C . . ANN=C|synonymous_variant|LOW|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|9/31|c.1782G>C|p.Thr594Thr|3001/9585|1782/7245|594/2414||,C|sequence_feature|LOW|EP300|ENSG00000100393|domain:KIX|ENST00000263253|protein_coding|9/31|c.1782G>C||||||,C|sequence_feature|LOW|EP300|ENSG00000100393|domain:KIX|ENST00000263253|protein_coding|10/31|c.1782G>C||||||,C|sequence_feature|LOW|EP300|ENSG00000100393|domain:KIX|ENST00000263253|protein_coding|8/31|c.1782G>C|||||| 22 41536270 . C G . . ANN=G|sequence_feature|LOW|EP300|ENSG00000100393|domain:KIX|ENST00000263253|protein_coding|9/31|c.1878+9C>G||||||,G|sequence_feature|LOW|EP300|ENSG00000100393|domain:KIX|ENST00000263253|protein_coding|10/31|c.1878+9C>G||||||,G|sequence_feature|LOW|EP300|ENSG00000100393|domain:KIX|ENST00000263253|protein_coding|8/31|c.1878+9C>G||||||,G|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|9/30|c.1878+9C>G|||||| 22 41536274 . T C . . ANN=C|sequence_feature|LOW|EP300|ENSG00000100393|domain:KIX|ENST00000263253|protein_coding|9/31|c.1878+13T>C||||||,C|sequence_feature|LOW|EP300|ENSG00000100393|domain:KIX|ENST00000263253|protein_coding|10/31|c.1878+13T>C||||||,C|sequence_feature|LOW|EP300|ENSG00000100393|domain:KIX|ENST00000263253|protein_coding|8/31|c.1878+13T>C||||||,C|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|9/30|c.1878+13T>C|||||| 22 41536308 . G T . . ANN=T|sequence_feature|LOW|EP300|ENSG00000100393|domain:KIX|ENST00000263253|protein_coding|9/31|c.1878+47G>T||||||,T|sequence_feature|LOW|EP300|ENSG00000100393|domain:KIX|ENST00000263253|protein_coding|10/31|c.1878+47G>T||||||,T|sequence_feature|LOW|EP300|ENSG00000100393|domain:KIX|ENST00000263253|protein_coding|8/31|c.1878+47G>T||||||,T|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|9/30|c.1878+47G>T|||||| 22 41537138 . G A . . ANN=A|synonymous_variant|LOW|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|10/31|c.1965G>A|p.Gln655Gln|3184/9585|1965/7245|655/2414|| 22 41537192 . T C . . ANN=C|synonymous_variant|LOW|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|10/31|c.2019T>C|p.Pro673Pro|3238/9585|2019/7245|673/2414|| 22 41537234 . G T . . ANN=T|splice_region_variant&intron_variant|LOW|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|10/30|c.2053+8G>T|||||| 22 41537244 . T C . . ANN=C|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|10/30|c.2053+18T>C|||||| 22 41537268 . A G . . ANN=G|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|10/30|c.2053+42A>G|||||| 22 41542753 . A G . . ANN=G|synonymous_variant|LOW|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|11/31|c.2064A>G|p.Leu688Leu|3283/9585|2064/7245|688/2414|| 22 41542772 . C T . . ANN=T|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|11/31|c.2083C>T|p.Arg695Cys|3302/9585|2083/7245|695/2414|| 22 41542780 . T G . . ANN=G|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|11/31|c.2091T>G|p.Ser697Arg|3310/9585|2091/7245|697/2414|| 22 41542837 . A T . . ANN=T|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|11/30|c.2131+17A>T|||||| 22 41542838 . T A . . ANN=A|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|11/30|c.2131+18T>A|||||| 22 41542862 . G A . . ANN=A|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|11/30|c.2131+42G>A|||||| 22 41543796 . A G . . ANN=G|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|11/30|c.2132-45A>G|||||| 22 41543949 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|12/31|c.2240C>T|p.Pro747Leu|3459/9585|2240/7245|747/2414|| 22 41543983 . C G . . ANN=G|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|12/30|c.2241+33C>G|||||| 22 41545729 . T C . . ANN=C|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|13/30|c.2380-36T>C|||||| 22 41545750 . T C . . ANN=C|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|13/30|c.2380-15T>C|||||| 22 41545884 . G A . . ANN=A|synonymous_variant|LOW|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|14/31|c.2499G>A|p.Ser833Ser|3718/9585|2499/7245|833/2414|| 22 41545905 . C T . . ANN=T|synonymous_variant|LOW|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|14/31|c.2520C>T|p.Pro840Pro|3739/9585|2520/7245|840/2414|| 22 41545919 . C G . . ANN=G|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|14/31|c.2534C>G|p.Thr845Ser|3753/9585|2534/7245|845/2414|| 22 41545957 . A G . . ANN=G|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|14/31|c.2572A>G|p.Thr858Ala|3791/9585|2572/7245|858/2414|| 22 41545961 . T C . . ANN=C|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|14/31|c.2576T>C|p.Ile859Thr|3795/9585|2576/7245|859/2414|| 22 41546056 . A C . . ANN=C|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|14/31|c.2671A>C|p.Thr891Pro|3890/9585|2671/7245|891/2414|| 22 41546131 . T A . . ANN=A|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|14/31|c.2746T>A|p.Ser916Thr|3965/9585|2746/7245|916/2414|| 22 41546158 . C A . . ANN=A|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|14/31|c.2773C>A|p.Pro925Thr|3992/9585|2773/7245|925/2414|| 22 41547873 . T C . . ANN=C|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|15/31|c.2854T>C|p.Ser952Pro|4073/9585|2854/7245|952/2414|| 22 41547908 . T C . . ANN=C|synonymous_variant|LOW|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|15/31|c.2889T>C|p.Asn963Asn|4108/9585|2889/7245|963/2414|| 22 41547941 . G A . . ANN=A|synonymous_variant|LOW|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|15/31|c.2922G>A|p.Gln974Gln|4141/9585|2922/7245|974/2414|| 22 41547944 . A G . . ANN=G|synonymous_variant|LOW|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|15/31|c.2925A>G|p.Glu975Glu|4144/9585|2925/7245|975/2414|| 22 41548008 . A G . . ANN=G|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|15/31|c.2989A>G|p.Ile997Val|4208/9585|2989/7245|997/2414|| 22 41548198 . G A . . ANN=A|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|15/30|c.2998-12G>A|||||| 22 41548242 . C G . . ANN=G|synonymous_variant|LOW|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|16/31|c.3030C>G|p.Thr1010Thr|4249/9585|3030/7245|1010/2414|| 22 41548275 . T C . . ANN=C|synonymous_variant|LOW|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|16/31|c.3063T>C|p.Thr1021Thr|4282/9585|3063/7245|1021/2414||,C|sequence_feature|LOW|EP300|ENSG00000100393|region_of_interest:CRD1|ENST00000263253|protein_coding|16/31|c.3063T>C|||||| 22 41548375 . G A . . ANN=A|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|16/30|c.3142+21G>A|||||| 22 41550954 . C T . . ANN=T|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|16/30|c.3143-45C>T|||||| 22 41551039 . T A . . ANN=A|synonymous_variant|LOW|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|17/31|c.3183T>A|p.Thr1061Thr|4402/9585|3183/7245|1061/2414||,A|sequence_feature|LOW|EP300|ENSG00000100393|helix|ENST00000263253|protein_coding|17/31|c.3183T>A|||||| 22 41553160 . C T . . ANN=T|sequence_feature|LOW|EP300|ENSG00000100393|domain:Bromo|ENST00000263253|protein_coding|18/31|c.3262-13C>T||||||,T|sequence_feature|LOW|EP300|ENSG00000100393|domain:Bromo|ENST00000263253|protein_coding|17/31|c.3262-13C>T||||||,T|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|17/30|c.3262-13C>T|||||| 22 41553259 . G A . . ANN=A|synonymous_variant|LOW|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|18/31|c.3348G>A|p.Gln1116Gln|4567/9585|3348/7245|1116/2414||,A|sequence_feature|LOW|EP300|ENSG00000100393|domain:Bromo|ENST00000263253|protein_coding|18/31|c.3348G>A||||||,A|sequence_feature|LOW|EP300|ENSG00000100393|domain:Bromo|ENST00000263253|protein_coding|17/31|c.3348G>A||||||,A|sequence_feature|LOW|EP300|ENSG00000100393|helix|ENST00000263253|protein_coding|18/31|c.3348G>A|||||| 22 41553337 . C T . . ANN=T|synonymous_variant|LOW|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|18/31|c.3426C>T|p.Cys1142Cys|4645/9585|3426/7245|1142/2414||,T|sequence_feature|LOW|EP300|ENSG00000100393|helix|ENST00000263253|protein_coding|18/31|c.3426C>T|||||| 22 41554407 . C A . . ANN=A|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|18/30|c.3502-9C>A|||||| 22 41556596 . G A . . ANN=A|sequence_feature|LOW|EP300|ENSG00000100393|turn|ENST00000263253|protein_coding|20/31|c.3591-50G>A||||||,A|sequence_feature|LOW|EP300|ENSG00000100393|turn|ENST00000263253|protein_coding|19/31|c.3591-50G>A||||||,A|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|19/30|c.3591-50G>A|||||| 22 41556625 . G A . . ANN=A|sequence_feature|LOW|EP300|ENSG00000100393|turn|ENST00000263253|protein_coding|20/31|c.3591-21G>A||||||,A|sequence_feature|LOW|EP300|ENSG00000100393|turn|ENST00000263253|protein_coding|19/31|c.3591-21G>A||||||,A|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|19/30|c.3591-21G>A|||||| 22 41556685 . G A . . ANN=A|synonymous_variant|LOW|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|20/31|c.3630G>A|p.Gly1210Gly|4849/9585|3630/7245|1210/2414|| 22 41558821 . CT C . . ANN=|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|21/30|c.3728+42delT||||||INFO_REALIGN_3_PRIME 22 41560146 . C T . . ANN=T|upstream_gene_variant|MODIFIER|RNU6-375P|ENSG00000252859|transcript|ENST00000517050|snRNA||n.-1C>T|||||4075|,T|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|22/30|c.3806+12C>T|||||| 22 41562562 . T C . . ANN=C|upstream_gene_variant|MODIFIER|RNU6-375P|ENSG00000252859|transcript|ENST00000517050|snRNA||n.-1T>C|||||1659|,C|downstream_gene_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense||n.*357A>G|||||2632|,C|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|22/30|c.3807-41T>C|||||| 22 41562585 . GTT G . . ANN=|upstream_gene_variant|MODIFIER|RNU6-375P|ENSG00000252859|transcript|ENST00000517050|snRNA||n.-1_-1delTT|||||1635|,|downstream_gene_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense||n.*357_*357delAA|||||2608|,|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|22/30|c.3807-15_3807-14delTT||||||INFO_REALIGN_3_PRIME 22 41562640 . A G . . ANN=G|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|23/31|c.3844A>G|p.Thr1282Ala|5063/9585|3844/7245|1282/2414||,G|upstream_gene_variant|MODIFIER|RNU6-375P|ENSG00000252859|transcript|ENST00000517050|snRNA||n.-1A>G|||||1581|,G|downstream_gene_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense||n.*357T>C|||||2554| 22 41562710 . T C . . ANN=C|upstream_gene_variant|MODIFIER|RNU6-375P|ENSG00000252859|transcript|ENST00000517050|snRNA||n.-1T>C|||||1511|,C|downstream_gene_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense||n.*357A>G|||||2484|,C|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|23/30|c.3874+40T>C|||||| 22 41564627 . TCTC T . . ANN=|sequence_feature|LOW|EP300|ENSG00000100393|helix|ENST00000263253|protein_coding|25/31|c.4025+25_4025+27delCTC||||||,|sequence_feature|LOW|EP300|ENSG00000100393|helix|ENST00000263253|protein_coding|24/31|c.4025+25_4025+27delCTC||||||,|downstream_gene_variant|MODIFIER|RNU6-375P|ENSG00000252859|transcript|ENST00000517050|snRNA||n.*100_*100delCTC|||||308|,|downstream_gene_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense||n.*357_*357delGAG|||||566|,|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|24/30|c.4025+28_4025+30delCTC||||||INFO_REALIGN_3_PRIME 22 41564708 . C A . . ANN=A|sequence_feature|LOW|EP300|ENSG00000100393|helix|ENST00000263253|protein_coding|25/31|c.4026-17C>A||||||,A|sequence_feature|LOW|EP300|ENSG00000100393|helix|ENST00000263253|protein_coding|24/31|c.4026-17C>A||||||,A|downstream_gene_variant|MODIFIER|RNU6-375P|ENSG00000252859|transcript|ENST00000517050|snRNA||n.*100C>A|||||388|,A|downstream_gene_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense||n.*357G>T|||||486|,A|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|24/30|c.4026-17C>A|||||| 22 41564718 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|24/30|c.4026-7T>C||||||,C|sequence_feature|LOW|EP300|ENSG00000100393|helix|ENST00000263253|protein_coding|25/31|c.4026-7T>C||||||,C|sequence_feature|LOW|EP300|ENSG00000100393|helix|ENST00000263253|protein_coding|24/31|c.4026-7T>C||||||,C|downstream_gene_variant|MODIFIER|RNU6-375P|ENSG00000252859|transcript|ENST00000517050|snRNA||n.*100T>C|||||398|,C|downstream_gene_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense||n.*357A>G|||||476| 22 41564725 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|25/31|c.4026G>A|p.Arg1342Arg|5245/9585|4026/7245|1342/2414||,A|sequence_feature|LOW|EP300|ENSG00000100393|helix|ENST00000263253|protein_coding|25/31|c.4026G>A||||||,A|sequence_feature|LOW|EP300|ENSG00000100393|helix|ENST00000263253|protein_coding|24/31|c.4026G>A||||||,A|downstream_gene_variant|MODIFIER|RNU6-375P|ENSG00000252859|transcript|ENST00000517050|snRNA||n.*100G>A|||||405|,A|downstream_gene_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense||n.*357C>T|||||469| 22 41564900 . G A . . ANN=A|downstream_gene_variant|MODIFIER|RNU6-375P|ENSG00000252859|transcript|ENST00000517050|snRNA||n.*100G>A|||||580|,A|downstream_gene_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense||n.*357C>T|||||294|,A|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|25/30|c.4172+29G>A|||||| 22 41565468 . A C . . ANN=C|downstream_gene_variant|MODIFIER|RNU6-375P|ENSG00000252859|transcript|ENST00000517050|snRNA||n.*100A>C|||||1148|,C|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|25/30|c.4173-39A>C||||||,C|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|2/2|n.142+58T>G|||||| 22 41565653 . T C . . ANN=C|downstream_gene_variant|MODIFIER|RNU6-375P|ENSG00000252859|transcript|ENST00000517050|snRNA||n.*100T>C|||||1333|,C|downstream_gene_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense||n.*457A>G|||||4942|,C|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|26/30|c.4286+33T>C||||||,C|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.83-68A>G|||||| 22 41565654 . A C . . ANN=C|downstream_gene_variant|MODIFIER|RNU6-375P|ENSG00000252859|transcript|ENST00000517050|snRNA||n.*100A>C|||||1334|,C|downstream_gene_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense||n.*457T>G|||||4941|,C|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|26/30|c.4286+34A>C||||||,C|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.83-69T>G|||||| 22 41566360 . T G . . ANN=G|downstream_gene_variant|MODIFIER|RNU6-375P|ENSG00000252859|transcript|ENST00000517050|snRNA||n.*100T>G|||||2040|,G|downstream_gene_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense||n.*457A>C|||||4235|,G|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|26/30|c.4287-50T>G||||||,G|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.83-775A>C|||||| 22 41566434 . A C . . ANN=C|synonymous_variant|LOW|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|27/31|c.4311A>C|p.Ala1437Ala|5530/9585|4311/7245|1437/2414||,C|downstream_gene_variant|MODIFIER|RNU6-375P|ENSG00000252859|transcript|ENST00000517050|snRNA||n.*100A>C|||||2114|,C|downstream_gene_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense||n.*457T>G|||||4161|,C|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.83-849T>G|||||| 22 41566522 . T A . . ANN=A|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|27/31|c.4399T>A|p.Tyr1467Asn|5618/9585|4399/7245|1467/2414||,A|sequence_feature|LOW|EP300|ENSG00000100393|helix|ENST00000263253|protein_coding|27/31|c.4399T>A||||||,A|downstream_gene_variant|MODIFIER|RNU6-375P|ENSG00000252859|transcript|ENST00000517050|snRNA||n.*100T>A|||||2202|,A|downstream_gene_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense||n.*457A>T|||||4073|,A|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.83-937A>T|||||| 22 41566595 . C T . . ANN=T|sequence_feature|LOW|EP300|ENSG00000100393|beta_strand|ENST00000263253|protein_coding|27/31|c.4452+20C>T||||||,T|sequence_feature|LOW|EP300|ENSG00000100393|beta_strand|ENST00000263253|protein_coding|28/31|c.4452+20C>T||||||,T|downstream_gene_variant|MODIFIER|RNU6-375P|ENSG00000252859|transcript|ENST00000517050|snRNA||n.*100C>T|||||2275|,T|downstream_gene_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense||n.*457G>A|||||4000|,T|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|27/30|c.4452+20C>T||||||,T|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.83-1010G>A|||||| 22 41568480 . T C . . ANN=C|sequence_feature|LOW|EP300|ENSG00000100393|beta_strand|ENST00000263253|protein_coding|27/31|c.4453-23T>C||||||,C|sequence_feature|LOW|EP300|ENSG00000100393|beta_strand|ENST00000263253|protein_coding|28/31|c.4453-23T>C||||||,C|downstream_gene_variant|MODIFIER|RNU6-375P|ENSG00000252859|transcript|ENST00000517050|snRNA||n.*100T>C|||||4160|,C|downstream_gene_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense||n.*457A>G|||||2115|,C|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|27/30|c.4453-23T>C||||||,C|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.83-2895A>G|||||| 22 41568649 . C G . . ANN=G|synonymous_variant|LOW|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|28/31|c.4599C>G|p.Thr1533Thr|5818/9585|4599/7245|1533/2414||,G|downstream_gene_variant|MODIFIER|RNU6-375P|ENSG00000252859|transcript|ENST00000517050|snRNA||n.*100C>G|||||4329|,G|downstream_gene_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense||n.*457G>C|||||1946|,G|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.83-3064G>C|||||| 22 41569591 . AC A . . ANN=|downstream_gene_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense||n.*457delG|||||1003|,|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|28/30|c.4618-34delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.83-4007delG|||||| 22 41569609 . C T . . ANN=T|downstream_gene_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense||n.*457G>A|||||986|,T|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|28/30|c.4618-18C>T||||||,T|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.83-4024G>A|||||| 22 41569822 . G A . . ANN=A|sequence_feature|LOW|EP300|ENSG00000100393|region_of_interest:Binding_region_for_E1A_adenovirus|ENST00000263253|protein_coding|31/31|c.4779+34G>A||||||,A|sequence_feature|LOW|EP300|ENSG00000100393|region_of_interest:Binding_region_for_E1A_adenovirus|ENST00000263253|protein_coding|29/31|c.4779+34G>A||||||,A|sequence_feature|LOW|EP300|ENSG00000100393|region_of_interest:Binding_region_for_E1A_adenovirus|ENST00000263253|protein_coding|30/31|c.4779+34G>A||||||,A|sequence_feature|LOW|EP300|ENSG00000100393|helix|ENST00000263253|protein_coding|29/31|c.4779+34G>A||||||,A|sequence_feature|LOW|EP300|ENSG00000100393|helix|ENST00000263253|protein_coding|30/31|c.4779+34G>A||||||,A|downstream_gene_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense||n.*457C>T|||||773|,A|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|29/30|c.4779+34G>A||||||,A|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.83-4237C>T|||||| 22 41572210 . C T . . ANN=T|sequence_feature|LOW|EP300|ENSG00000100393|region_of_interest:Binding_region_for_E1A_adenovirus|ENST00000263253|protein_coding|31/31|c.4780-41C>T||||||,T|sequence_feature|LOW|EP300|ENSG00000100393|region_of_interest:Binding_region_for_E1A_adenovirus|ENST00000263253|protein_coding|29/31|c.4780-41C>T||||||,T|sequence_feature|LOW|EP300|ENSG00000100393|region_of_interest:Binding_region_for_E1A_adenovirus|ENST00000263253|protein_coding|30/31|c.4780-41C>T||||||,T|sequence_feature|LOW|EP300|ENSG00000100393|helix|ENST00000263253|protein_coding|29/31|c.4780-41C>T||||||,T|sequence_feature|LOW|EP300|ENSG00000100393|helix|ENST00000263253|protein_coding|30/31|c.4780-41C>T||||||,T|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|29/30|c.4780-41C>T||||||,T|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.83-6625G>A||||||,T|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-1382G>A|||||| 22 41572223 . C CA . . ANN=A|sequence_feature|LOW|EP300|ENSG00000100393|region_of_interest:Binding_region_for_E1A_adenovirus|ENST00000263253|protein_coding|31/31|c.4780-28_4780-27insA||||||,A|sequence_feature|LOW|EP300|ENSG00000100393|region_of_interest:Binding_region_for_E1A_adenovirus|ENST00000263253|protein_coding|29/31|c.4780-28_4780-27insA||||||,A|sequence_feature|LOW|EP300|ENSG00000100393|region_of_interest:Binding_region_for_E1A_adenovirus|ENST00000263253|protein_coding|30/31|c.4780-28_4780-27insA||||||,A|sequence_feature|LOW|EP300|ENSG00000100393|helix|ENST00000263253|protein_coding|29/31|c.4780-28_4780-27insA||||||,A|sequence_feature|LOW|EP300|ENSG00000100393|helix|ENST00000263253|protein_coding|30/31|c.4780-28_4780-27insA||||||,A|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|29/30|c.4780-20dupA||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.83-6639dupT||||||,A|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-1396dupT|||||| 22 41572269 . C G . . ANN=G|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|30/31|c.4798C>G|p.Leu1600Val|6017/9585|4798/7245|1600/2414||,G|sequence_feature|LOW|EP300|ENSG00000100393|region_of_interest:Binding_region_for_E1A_adenovirus|ENST00000263253|protein_coding|31/31|c.4798C>G||||||,G|sequence_feature|LOW|EP300|ENSG00000100393|region_of_interest:Binding_region_for_E1A_adenovirus|ENST00000263253|protein_coding|29/31|c.4798C>G||||||,G|sequence_feature|LOW|EP300|ENSG00000100393|region_of_interest:Binding_region_for_E1A_adenovirus|ENST00000263253|protein_coding|30/31|c.4798C>G||||||,G|sequence_feature|LOW|EP300|ENSG00000100393|beta_strand|ENST00000263253|protein_coding|30/31|c.4798C>G||||||,G|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.83-6684G>C||||||,G|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-1441G>C|||||| 22 41572295 . C G . . ANN=G|synonymous_variant|LOW|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|30/31|c.4824C>G|p.Ser1608Ser|6043/9585|4824/7245|1608/2414||,G|sequence_feature|LOW|EP300|ENSG00000100393|region_of_interest:Binding_region_for_E1A_adenovirus|ENST00000263253|protein_coding|31/31|c.4824C>G||||||,G|sequence_feature|LOW|EP300|ENSG00000100393|region_of_interest:Binding_region_for_E1A_adenovirus|ENST00000263253|protein_coding|29/31|c.4824C>G||||||,G|sequence_feature|LOW|EP300|ENSG00000100393|region_of_interest:Binding_region_for_E1A_adenovirus|ENST00000263253|protein_coding|30/31|c.4824C>G||||||,G|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.83-6710G>C||||||,G|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-1467G>C|||||| 22 41572541 . C T . . ANN=T|sequence_feature|LOW|EP300|ENSG00000100393|region_of_interest:Binding_region_for_E1A_adenovirus|ENST00000263253|protein_coding|31/31|c.5061+9C>T||||||,T|sequence_feature|LOW|EP300|ENSG00000100393|region_of_interest:Binding_region_for_E1A_adenovirus|ENST00000263253|protein_coding|29/31|c.5061+9C>T||||||,T|sequence_feature|LOW|EP300|ENSG00000100393|region_of_interest:Binding_region_for_E1A_adenovirus|ENST00000263253|protein_coding|30/31|c.5061+9C>T||||||,T|sequence_feature|LOW|EP300|ENSG00000100393|zinc_finger_region:ZZ-type|ENST00000263253|protein_coding|31/31|c.5061+9C>T||||||,T|sequence_feature|LOW|EP300|ENSG00000100393|zinc_finger_region:ZZ-type|ENST00000263253|protein_coding|30/31|c.5061+9C>T||||||,T|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|30/30|c.5061+9C>T||||||,T|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+6526G>A||||||,T|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-1713G>A|||||| 22 41572542 . G A . . ANN=A|sequence_feature|LOW|EP300|ENSG00000100393|region_of_interest:Binding_region_for_E1A_adenovirus|ENST00000263253|protein_coding|31/31|c.5061+10G>A||||||,A|sequence_feature|LOW|EP300|ENSG00000100393|region_of_interest:Binding_region_for_E1A_adenovirus|ENST00000263253|protein_coding|29/31|c.5061+10G>A||||||,A|sequence_feature|LOW|EP300|ENSG00000100393|region_of_interest:Binding_region_for_E1A_adenovirus|ENST00000263253|protein_coding|30/31|c.5061+10G>A||||||,A|sequence_feature|LOW|EP300|ENSG00000100393|zinc_finger_region:ZZ-type|ENST00000263253|protein_coding|31/31|c.5061+10G>A||||||,A|sequence_feature|LOW|EP300|ENSG00000100393|zinc_finger_region:ZZ-type|ENST00000263253|protein_coding|30/31|c.5061+10G>A||||||,A|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|30/30|c.5061+10G>A||||||,A|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+6525C>T||||||,A|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-1714C>T|||||| 22 41572554 . G A . . ANN=A|sequence_feature|LOW|EP300|ENSG00000100393|region_of_interest:Binding_region_for_E1A_adenovirus|ENST00000263253|protein_coding|31/31|c.5061+22G>A||||||,A|sequence_feature|LOW|EP300|ENSG00000100393|region_of_interest:Binding_region_for_E1A_adenovirus|ENST00000263253|protein_coding|29/31|c.5061+22G>A||||||,A|sequence_feature|LOW|EP300|ENSG00000100393|region_of_interest:Binding_region_for_E1A_adenovirus|ENST00000263253|protein_coding|30/31|c.5061+22G>A||||||,A|sequence_feature|LOW|EP300|ENSG00000100393|zinc_finger_region:ZZ-type|ENST00000263253|protein_coding|31/31|c.5061+22G>A||||||,A|sequence_feature|LOW|EP300|ENSG00000100393|zinc_finger_region:ZZ-type|ENST00000263253|protein_coding|30/31|c.5061+22G>A||||||,A|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|30/30|c.5061+22G>A||||||,A|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+6513C>T||||||,A|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-1726C>T|||||| 22 41572559 . A T . . ANN=T|sequence_feature|LOW|EP300|ENSG00000100393|region_of_interest:Binding_region_for_E1A_adenovirus|ENST00000263253|protein_coding|31/31|c.5061+27A>T||||||,T|sequence_feature|LOW|EP300|ENSG00000100393|region_of_interest:Binding_region_for_E1A_adenovirus|ENST00000263253|protein_coding|29/31|c.5061+27A>T||||||,T|sequence_feature|LOW|EP300|ENSG00000100393|region_of_interest:Binding_region_for_E1A_adenovirus|ENST00000263253|protein_coding|30/31|c.5061+27A>T||||||,T|sequence_feature|LOW|EP300|ENSG00000100393|zinc_finger_region:ZZ-type|ENST00000263253|protein_coding|31/31|c.5061+27A>T||||||,T|sequence_feature|LOW|EP300|ENSG00000100393|zinc_finger_region:ZZ-type|ENST00000263253|protein_coding|30/31|c.5061+27A>T||||||,T|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|30/30|c.5061+27A>T||||||,T|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+6508T>A||||||,T|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-1731T>A|||||| 22 41572566 . C G . . ANN=G|sequence_feature|LOW|EP300|ENSG00000100393|region_of_interest:Binding_region_for_E1A_adenovirus|ENST00000263253|protein_coding|31/31|c.5061+34C>G||||||,G|sequence_feature|LOW|EP300|ENSG00000100393|region_of_interest:Binding_region_for_E1A_adenovirus|ENST00000263253|protein_coding|29/31|c.5061+34C>G||||||,G|sequence_feature|LOW|EP300|ENSG00000100393|region_of_interest:Binding_region_for_E1A_adenovirus|ENST00000263253|protein_coding|30/31|c.5061+34C>G||||||,G|sequence_feature|LOW|EP300|ENSG00000100393|zinc_finger_region:ZZ-type|ENST00000263253|protein_coding|31/31|c.5061+34C>G||||||,G|sequence_feature|LOW|EP300|ENSG00000100393|zinc_finger_region:ZZ-type|ENST00000263253|protein_coding|30/31|c.5061+34C>G||||||,G|intron_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|30/30|c.5061+34C>G||||||,G|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+6501G>C||||||,G|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-1738G>C|||||| 22 41572785 . C T . . ANN=T|synonymous_variant|LOW|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|31/31|c.5070C>T|p.Asp1690Asp|6289/9585|5070/7245|1690/2414||,T|sequence_feature|LOW|EP300|ENSG00000100393|region_of_interest:Binding_region_for_E1A_adenovirus|ENST00000263253|protein_coding|31/31|c.5070C>T||||||,T|sequence_feature|LOW|EP300|ENSG00000100393|region_of_interest:Binding_region_for_E1A_adenovirus|ENST00000263253|protein_coding|29/31|c.5070C>T||||||,T|sequence_feature|LOW|EP300|ENSG00000100393|region_of_interest:Binding_region_for_E1A_adenovirus|ENST00000263253|protein_coding|30/31|c.5070C>T||||||,T|sequence_feature|LOW|EP300|ENSG00000100393|zinc_finger_region:ZZ-type|ENST00000263253|protein_coding|31/31|c.5070C>T||||||,T|sequence_feature|LOW|EP300|ENSG00000100393|zinc_finger_region:ZZ-type|ENST00000263253|protein_coding|30/31|c.5070C>T||||||,T|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+6282G>A||||||,T|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-1957G>A|||||| 22 41572792 . A G . . ANN=G|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|31/31|c.5077A>G|p.Ile1693Val|6296/9585|5077/7245|1693/2414||,G|sequence_feature|LOW|EP300|ENSG00000100393|region_of_interest:Binding_region_for_E1A_adenovirus|ENST00000263253|protein_coding|31/31|c.5077A>G||||||,G|sequence_feature|LOW|EP300|ENSG00000100393|region_of_interest:Binding_region_for_E1A_adenovirus|ENST00000263253|protein_coding|29/31|c.5077A>G||||||,G|sequence_feature|LOW|EP300|ENSG00000100393|region_of_interest:Binding_region_for_E1A_adenovirus|ENST00000263253|protein_coding|30/31|c.5077A>G||||||,G|sequence_feature|LOW|EP300|ENSG00000100393|zinc_finger_region:ZZ-type|ENST00000263253|protein_coding|31/31|c.5077A>G||||||,G|sequence_feature|LOW|EP300|ENSG00000100393|zinc_finger_region:ZZ-type|ENST00000263253|protein_coding|30/31|c.5077A>G||||||,G|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+6275T>C||||||,G|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-1964T>C|||||| 22 41572862 . G C . . ANN=C|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|31/31|c.5147G>C|p.Ser1716Thr|6366/9585|5147/7245|1716/2414||,C|sequence_feature|LOW|EP300|ENSG00000100393|region_of_interest:Binding_region_for_E1A_adenovirus|ENST00000263253|protein_coding|31/31|c.5147G>C||||||,C|sequence_feature|LOW|EP300|ENSG00000100393|region_of_interest:Binding_region_for_E1A_adenovirus|ENST00000263253|protein_coding|29/31|c.5147G>C||||||,C|sequence_feature|LOW|EP300|ENSG00000100393|region_of_interest:Binding_region_for_E1A_adenovirus|ENST00000263253|protein_coding|30/31|c.5147G>C||||||,C|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+6205C>G||||||,C|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-2034C>G|||||| 22 41572974 . C T . . ANN=T|synonymous_variant|LOW|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|31/31|c.5259C>T|p.Cys1753Cys|6478/9585|5259/7245|1753/2414||,T|sequence_feature|LOW|EP300|ENSG00000100393|region_of_interest:Binding_region_for_E1A_adenovirus|ENST00000263253|protein_coding|31/31|c.5259C>T||||||,T|sequence_feature|LOW|EP300|ENSG00000100393|region_of_interest:Binding_region_for_E1A_adenovirus|ENST00000263253|protein_coding|29/31|c.5259C>T||||||,T|sequence_feature|LOW|EP300|ENSG00000100393|region_of_interest:Binding_region_for_E1A_adenovirus|ENST00000263253|protein_coding|30/31|c.5259C>T||||||,T|sequence_feature|LOW|EP300|ENSG00000100393|zinc_finger_region:TAZ-type_2|ENST00000263253|protein_coding|31/31|c.5259C>T||||||,T|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+6093G>A||||||,T|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-2146G>A|||||| 22 41572986 . C T . . ANN=T|synonymous_variant|LOW|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|31/31|c.5271C>T|p.Ser1757Ser|6490/9585|5271/7245|1757/2414||,T|sequence_feature|LOW|EP300|ENSG00000100393|region_of_interest:Binding_region_for_E1A_adenovirus|ENST00000263253|protein_coding|31/31|c.5271C>T||||||,T|sequence_feature|LOW|EP300|ENSG00000100393|region_of_interest:Binding_region_for_E1A_adenovirus|ENST00000263253|protein_coding|29/31|c.5271C>T||||||,T|sequence_feature|LOW|EP300|ENSG00000100393|region_of_interest:Binding_region_for_E1A_adenovirus|ENST00000263253|protein_coding|30/31|c.5271C>T||||||,T|sequence_feature|LOW|EP300|ENSG00000100393|zinc_finger_region:TAZ-type_2|ENST00000263253|protein_coding|31/31|c.5271C>T||||||,T|sequence_feature|LOW|EP300|ENSG00000100393|helix|ENST00000263253|protein_coding|31/31|c.5271C>T||||||,T|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+6081G>A||||||,T|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-2158G>A|||||| 22 41573190 . C T . . ANN=T|synonymous_variant|LOW|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|31/31|c.5475C>T|p.Ala1825Ala|6694/9585|5475/7245|1825/2414||,T|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+5877G>A||||||,T|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-2362G>A|||||| 22 41573283 . G A . . ANN=A|synonymous_variant|LOW|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|31/31|c.5568G>A|p.Thr1856Thr|6787/9585|5568/7245|1856/2414||,A|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+5784C>T||||||,A|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-2455C>T|||||| 22 41573319 . G T . . ANN=T|synonymous_variant|LOW|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|31/31|c.5604G>T|p.Thr1868Thr|6823/9585|5604/7245|1868/2414||,T|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+5748C>A||||||,T|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-2491C>A|||||| 22 41573384 . C G . . ANN=G|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|31/31|c.5669C>G|p.Thr1890Ser|6888/9585|5669/7245|1890/2414||,G|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+5683G>C||||||,G|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-2556G>C|||||| 22 41573440 . A G . . ANN=G|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|31/31|c.5725A>G|p.Thr1909Ala|6944/9585|5725/7245|1909/2414||,G|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+5627T>C||||||,G|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-2612T>C|||||| 22 41573523 . G A . . ANN=A|synonymous_variant|LOW|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|31/31|c.5808G>A|p.Ala1936Ala|7027/9585|5808/7245|1936/2414||,A|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+5544C>T||||||,A|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-2695C>T|||||| 22 41573529 . G A . . ANN=A|synonymous_variant|LOW|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|31/31|c.5814G>A|p.Thr1938Thr|7033/9585|5814/7245|1938/2414||,A|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+5538C>T||||||,A|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-2701C>T|||||| 22 41573672 . C T . . ANN=T|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|31/31|c.5957C>T|p.Pro1986Leu|7176/9585|5957/7245|1986/2414||,T|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+5395G>A||||||,T|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-2844G>A|||||| 22 41573798 . C T . . ANN=T|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|31/31|c.6083C>T|p.Ala2028Val|7302/9585|6083/7245|2028/2414||,T|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_HTLV-1_Tax|ENST00000263253|protein_coding|31/31|c.6083C>T||||||,T|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+5269G>A||||||,T|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-2970G>A|||||| 22 41573806 . C T . . ANN=T|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|31/31|c.6091C>T|p.Pro2031Ser|7310/9585|6091/7245|2031/2414||,T|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_HTLV-1_Tax|ENST00000263253|protein_coding|31/31|c.6091C>T||||||,T|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+5261G>A||||||,T|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-2978G>A|||||| 22 41573809 . G C . . ANN=C|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|31/31|c.6094G>C|p.Gly2032Arg|7313/9585|6094/7245|2032/2414||,C|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_HTLV-1_Tax|ENST00000263253|protein_coding|31/31|c.6094G>C||||||,C|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+5258C>G||||||,C|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-2981C>G|||||| 22 41573823 . A T . . ANN=T|synonymous_variant|LOW|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|31/31|c.6108A>T|p.Val2036Val|7327/9585|6108/7245|2036/2414||,T|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_HTLV-1_Tax|ENST00000263253|protein_coding|31/31|c.6108A>T||||||,T|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+5244T>A||||||,T|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-2995T>A|||||| 22 41573925 . G A . . ANN=A|synonymous_variant|LOW|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|31/31|c.6210G>A|p.Val2070Val|7429/9585|6210/7245|2070/2414||,A|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_HTLV-1_Tax|ENST00000263253|protein_coding|31/31|c.6210G>A||||||,A|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_NCOA2|ENST00000263253|protein_coding|31/31|c.6210G>A||||||,A|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+5142C>T||||||,A|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-3097C>T|||||| 22 41573977 . C T . . ANN=T|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|31/31|c.6262C>T|p.Arg2088Trp|7481/9585|6262/7245|2088/2414||,T|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_HTLV-1_Tax|ENST00000263253|protein_coding|31/31|c.6262C>T||||||,T|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_NCOA2|ENST00000263253|protein_coding|31/31|c.6262C>T||||||,T|sequence_feature|LOW|EP300|ENSG00000100393|site:Interaction_with_NCOA2|ENST00000263253|protein_coding|31/31|c.6262C>T||||||,T|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+5090G>A||||||,T|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-3149G>A|||||| 22 41574087 . C T . . ANN=T|synonymous_variant|LOW|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|31/31|c.6372C>T|p.Val2124Val|7591/9585|6372/7245|2124/2414||,T|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_HTLV-1_Tax|ENST00000263253|protein_coding|31/31|c.6372C>T||||||,T|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_NCOA2|ENST00000263253|protein_coding|31/31|c.6372C>T||||||,T|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+4980G>A||||||,T|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-3259G>A|||||| 22 41574105 . G A . . ANN=A|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|31/31|c.6390G>A|p.Met2130Ile|7609/9585|6390/7245|2130/2414||,A|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_HTLV-1_Tax|ENST00000263253|protein_coding|31/31|c.6390G>A||||||,A|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_NCOA2|ENST00000263253|protein_coding|31/31|c.6390G>A||||||,A|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+4962C>T||||||,A|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-3277C>T|||||| 22 41574132 . C T . . ANN=T|synonymous_variant|LOW|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|31/31|c.6417C>T|p.Gly2139Gly|7636/9585|6417/7245|2139/2414||,T|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_HTLV-1_Tax|ENST00000263253|protein_coding|31/31|c.6417C>T||||||,T|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_NCOA2|ENST00000263253|protein_coding|31/31|c.6417C>T||||||,T|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+4935G>A||||||,T|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-3304G>A|||||| 22 41574196 . A G . . ANN=G|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|31/31|c.6481A>G|p.Met2161Val|7700/9585|6481/7245|2161/2414||,G|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_HTLV-1_Tax|ENST00000263253|protein_coding|31/31|c.6481A>G||||||,G|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_NCOA2|ENST00000263253|protein_coding|31/31|c.6481A>G||||||,G|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+4871T>C||||||,G|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-3368T>C|||||| 22 41574351 . G A . . ANN=A|synonymous_variant|LOW|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|31/31|c.6636G>A|p.Gln2212Gln|7855/9585|6636/7245|2212/2414||,A|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_HTLV-1_Tax|ENST00000263253|protein_coding|31/31|c.6636G>A||||||,A|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_NCOA2|ENST00000263253|protein_coding|31/31|c.6636G>A||||||,A|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+4716C>T||||||,A|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-3523C>T|||||| 22 41574356 . C T . . ANN=T|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|31/31|c.6641C>T|p.Pro2214Leu|7860/9585|6641/7245|2214/2414||,T|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_NCOA2|ENST00000263253|protein_coding|31/31|c.6641C>T||||||,T|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+4711G>A||||||,T|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-3528G>A|||||| 22 41574357 . C T . . ANN=T|synonymous_variant|LOW|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|31/31|c.6642C>T|p.Pro2214Pro|7861/9585|6642/7245|2214/2414||,T|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_NCOA2|ENST00000263253|protein_coding|31/31|c.6642C>T||||||,T|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+4710G>A||||||,T|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-3529G>A|||||| 22 41574383 . A C . . ANN=C|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|31/31|c.6668A>C|p.Gln2223Pro|7887/9585|6668/7245|2223/2414||,C|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_NCOA2|ENST00000263253|protein_coding|31/31|c.6668A>C||||||,C|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+4684T>G||||||,C|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-3555T>G|||||| 22 41574510 . TCAG T . . ANN=|disruptive_inframe_deletion|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|31/31|c.6798_6800delGCA|p.Gln2267del|8017/9585|6798/7245|2266/2414||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+4554_82+4556delCTG||||||,|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-3685_224-3683delCTG|||||| 22 41574570 . C T . . ANN=T|synonymous_variant|LOW|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|31/31|c.6855C>T|p.Leu2285Leu|8074/9585|6855/7245|2285/2414||,T|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+4497G>A||||||,T|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-3742G>A|||||| 22 41574666 . G A . . ANN=A|synonymous_variant|LOW|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|31/31|c.6951G>A|p.Arg2317Arg|8170/9585|6951/7245|2317/2414||,A|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+4401C>T||||||,A|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-3838C>T|||||| 22 41574685 . C T . . ANN=T|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|31/31|c.6970C>T|p.His2324Tyr|8189/9585|6970/7245|2324/2414||,T|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+4382G>A||||||,T|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-3857G>A|||||| 22 41574697 . T C . . ANN=C|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|31/31|c.6982T>C|p.Ser2328Pro|8201/9585|6982/7245|2328/2414||,C|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+4370A>G||||||,C|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-3869A>G|||||| 22 41574730 . C T . . ANN=T|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|31/31|c.7015C>T|p.His2339Tyr|8234/9585|7015/7245|2339/2414||,T|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+4337G>A||||||,T|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-3902G>A|||||| 22 41574932 . T C . . ANN=C|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|31/31|c.7217T>C|p.Leu2406Pro|8436/9585|7217/7245|2406/2414||,C|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+4135A>G||||||,C|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-4104A>G|||||| 22 41574966 . C A . . ANN=A|3_prime_UTR_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|31/31|c.*6C>A|||||6|,A|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+4101G>T||||||,A|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-4138G>T|||||| 22 41574969 . TGTA T . . ANN=|3_prime_UTR_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|31/31|c.*13_*15delGTA|||||13|INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+4095_82+4097delTAC||||||,|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-4144_224-4142delTAC|||||| 22 41574976 . T G . . ANN=G|3_prime_UTR_variant|MODIFIER|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|31/31|c.*16T>G|||||16|,G|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+4091A>C||||||,G|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-4148A>C|||||| 22 41601385 . A G . . ANN=G|missense_variant|MODERATE|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|1/17|c.19A>G|p.Ile7Val|177/3296|19/2118|7/705||,G|upstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000449635|protein_coding||c.-2A>G|||||4315|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay||n.-1A>G|||||4315|,G|downstream_gene_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000441316|antisense||n.*2500T>C|||||3741|,G|downstream_gene_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000451176|antisense||n.*780T>C|||||4301|,G|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron|1/14|n.100A>G||||||,G|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000489136|processed_transcript|1/6|n.80A>G||||||,G|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|1/16|n.73A>G||||||,G|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000453659|nonsense_mediated_decay|1/3|n.19A>G||||||,G|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|1/15|n.61A>G||||||,G|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|1/18|n.19A>G|||||| 22 41605741 . C T . . ANN=T|missense_variant|MODERATE|L3MBTL2|ENSG00000100395|transcript|ENST00000449635|protein_coding|1/6|c.41C>T|p.Thr14Met|42/864|41/863|14/286||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|2/17|c.66C>T|p.Asp22Asp|224/3296|66/2118|22/705||,T|3_prime_UTR_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000453659|nonsense_mediated_decay|3/3|n.*86C>T|||||1324|,T|non_coding_exon_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000441316|antisense|3/3|n.1885G>A||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron|2/14|n.147C>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000489136|processed_transcript|3/6|n.246C>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|2/16|n.120C>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000453659|nonsense_mediated_decay|3/3|n.*86C>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|2/15|n.108C>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|2/18|n.66C>T||||||,T|non_coding_exon_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000451176|antisense|3/3|n.725G>A||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay|1/7|n.42C>T|||||| 22 41605776 . G C . . ANN=C|missense_variant|MODERATE|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|2/17|c.101G>C|p.Arg34Pro|259/3296|101/2118|34/705||,C|missense_variant|MODERATE|L3MBTL2|ENSG00000100395|transcript|ENST00000449635|protein_coding|1/6|c.76G>C|p.Gly26Arg|77/864|76/863|26/286||WARNING_TRANSCRIPT_INCOMPLETE,C|3_prime_UTR_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000453659|nonsense_mediated_decay|3/3|n.*121G>C|||||1359|,C|non_coding_exon_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000441316|antisense|3/3|n.1850C>G||||||,C|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron|2/14|n.182G>C||||||,C|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000489136|processed_transcript|3/6|n.281G>C||||||,C|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|2/16|n.155G>C||||||,C|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000453659|nonsense_mediated_decay|3/3|n.*121G>C||||||,C|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|2/15|n.143G>C||||||,C|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|2/18|n.101G>C||||||,C|non_coding_exon_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000451176|antisense|3/3|n.690C>G||||||,C|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay|1/7|n.77G>C|||||| 22 41605809 . G C . . ANN=C|missense_variant|MODERATE|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|2/17|c.134G>C|p.Ser45Thr|292/3296|134/2118|45/705||,C|missense_variant|MODERATE|L3MBTL2|ENSG00000100395|transcript|ENST00000449635|protein_coding|1/6|c.109G>C|p.Ala37Pro|110/864|109/863|37/286||WARNING_TRANSCRIPT_INCOMPLETE,C|3_prime_UTR_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000453659|nonsense_mediated_decay|3/3|n.*154G>C|||||1392|,C|non_coding_exon_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000441316|antisense|3/3|n.1817C>G||||||,C|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron|2/14|n.215G>C||||||,C|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000489136|processed_transcript|3/6|n.314G>C||||||,C|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|2/16|n.188G>C||||||,C|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000453659|nonsense_mediated_decay|3/3|n.*154G>C||||||,C|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|2/15|n.176G>C||||||,C|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|2/18|n.134G>C||||||,C|non_coding_exon_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000451176|antisense|3/3|n.657C>G||||||,C|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay|1/7|n.110G>C|||||| 22 41605892 . A G . . ANN=G|missense_variant|MODERATE|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|2/17|c.217A>G|p.Ser73Gly|375/3296|217/2118|73/705||,G|synonymous_variant|LOW|L3MBTL2|ENSG00000100395|transcript|ENST00000449635|protein_coding|1/6|c.192A>G|p.Ser64Ser|193/864|192/863|64/286||WARNING_TRANSCRIPT_INCOMPLETE,G|3_prime_UTR_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000453659|nonsense_mediated_decay|3/3|n.*237A>G|||||1475|,G|non_coding_exon_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000441316|antisense|3/3|n.1734T>C||||||,G|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron|2/14|n.298A>G||||||,G|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000489136|processed_transcript|3/6|n.397A>G||||||,G|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|2/16|n.271A>G||||||,G|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000453659|nonsense_mediated_decay|3/3|n.*237A>G||||||,G|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|2/15|n.259A>G||||||,G|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|2/18|n.217A>G||||||,G|non_coding_exon_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000451176|antisense|3/3|n.574T>C||||||,G|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay|1/7|n.193A>G|||||| 22 41605948 . A C . . ANN=C|sequence_feature|LOW|L3MBTL2|ENSG00000100395|zinc_finger_region:FCS-type|ENST00000216237|protein_coding|2/17|c.262+11A>C||||||,C|sequence_feature|LOW|L3MBTL2|ENSG00000100395|zinc_finger_region:FCS-type|ENST00000216237|protein_coding|3/17|c.262+11A>C||||||,C|sequence_feature|LOW|L3MBTL2|ENSG00000100395|beta_strand|ENST00000216237|protein_coding|2/17|c.262+11A>C||||||,C|sequence_feature|LOW|L3MBTL2|ENSG00000100395|beta_strand|ENST00000216237|protein_coding|3/17|c.262+11A>C||||||,C|3_prime_UTR_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000453659|nonsense_mediated_decay|3/3|n.*293A>C|||||1531|,C|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|2/16|c.262+11A>C||||||,C|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron|2/13|n.343+11A>C||||||,C|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000489136|processed_transcript|3/5|n.442+11A>C||||||,C|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|2/15|n.316+11A>C||||||,C|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|2/14|n.304+11A>C||||||,C|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|2/17|n.262+11A>C||||||,C|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000449635|protein_coding|1/5|c.237+11A>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay|1/6|n.238+11A>C||||||,C|non_coding_exon_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000441316|antisense|3/3|n.1678T>G||||||,C|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000453659|nonsense_mediated_decay|3/3|n.*293A>C||||||,C|non_coding_exon_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000451176|antisense|3/3|n.518T>G|||||| 22 41609859 . T C . . ANN=C|sequence_feature|LOW|L3MBTL2|ENSG00000100395|zinc_finger_region:FCS-type|ENST00000216237|protein_coding|2/17|c.263-38T>C||||||,C|sequence_feature|LOW|L3MBTL2|ENSG00000100395|zinc_finger_region:FCS-type|ENST00000216237|protein_coding|3/17|c.263-38T>C||||||,C|sequence_feature|LOW|L3MBTL2|ENSG00000100395|beta_strand|ENST00000216237|protein_coding|2/17|c.263-38T>C||||||,C|sequence_feature|LOW|L3MBTL2|ENSG00000100395|beta_strand|ENST00000216237|protein_coding|3/17|c.263-38T>C||||||,C|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000453659|nonsense_mediated_decay||n.*174T>C|||||3847|,C|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|2/16|c.263-38T>C||||||,C|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000489136|processed_transcript|3/5|n.443-38T>C||||||,C|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|2/15|n.317-38T>C||||||,C|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|2/14|n.305-38T>C||||||,C|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|2/17|n.263-38T>C||||||,C|intron_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000451176|antisense|2/2|n.510+3177A>G||||||,C|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000449635|protein_coding|1/5|c.238-2284T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay|1/6|n.239-38T>C||||||,C|non_coding_exon_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000441316|antisense|2/3|n.1445A>G||||||,C|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron|3/14|n.348T>C|||||| 22 41610024 . G A . . ANN=A|synonymous_variant|LOW|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|3/17|c.390G>A|p.Arg130Arg|548/3296|390/2118|130/705||,A|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000453659|nonsense_mediated_decay||n.*174G>A|||||4012|,A|intron_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000451176|antisense|2/2|n.510+3012C>T||||||,A|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000449635|protein_coding|1/5|c.238-2119G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000441316|antisense|2/3|n.1280C>T||||||,A|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron|3/14|n.513G>A||||||,A|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000489136|processed_transcript|4/6|n.570G>A||||||,A|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|3/16|n.444G>A||||||,A|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|3/15|n.432G>A||||||,A|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|3/18|n.390G>A||||||,A|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay|2/7|n.366G>A|||||| 22 41610059 . G A . . ANN=A|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000453659|nonsense_mediated_decay||n.*174G>A|||||4047|,A|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|3/16|c.396+29G>A||||||,A|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron|3/13|n.519+29G>A||||||,A|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000489136|processed_transcript|4/5|n.576+29G>A||||||,A|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|3/15|n.450+29G>A||||||,A|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|3/14|n.438+29G>A||||||,A|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|3/17|n.396+29G>A||||||,A|intron_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000451176|antisense|2/2|n.510+2977C>T||||||,A|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000449635|protein_coding|1/5|c.238-2084G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay|2/6|n.372+29G>A||||||,A|non_coding_exon_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000441316|antisense|2/3|n.1245C>T|||||| 22 41612265 . C T . . ANN=T|splice_region_variant&synonymous_variant|LOW|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|4/17|c.519C>T|p.Asp173Asp|677/3296|519/2118|173/705||,T|splice_region_variant&non_coding_exon_variant|LOW|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron|4/14|n.642C>T||||||,T|splice_region_variant&non_coding_exon_variant|LOW|L3MBTL2|ENSG00000100395|transcript|ENST00000489136|processed_transcript|5/6|n.699C>T||||||,T|splice_region_variant&non_coding_exon_variant|LOW|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|4/16|n.573C>T||||||,T|splice_region_variant&non_coding_exon_variant|LOW|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|4/15|n.561C>T||||||,T|splice_region_variant&non_coding_exon_variant|LOW|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|4/18|n.519C>T||||||,T|splice_region_variant&synonymous_variant|LOW|L3MBTL2|ENSG00000100395|transcript|ENST00000449635|protein_coding|2/6|c.360C>T|p.Asp120Asp|361/864|360/863|120/286||WARNING_TRANSCRIPT_INCOMPLETE,T|splice_region_variant&non_coding_exon_variant|LOW|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay|3/7|n.495C>T||||||,T|intron_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000441316|antisense|1/2|n.596+771G>A||||||,T|intron_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000451176|antisense|2/2|n.510+771G>A|||||| 22 41612295 . A G . . ANN=G|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|4/16|c.520+29A>G||||||,G|intron_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000441316|antisense|1/2|n.596+741T>C||||||,G|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron|4/13|n.643+29A>G||||||,G|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000489136|processed_transcript|5/5|n.700+29A>G||||||,G|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|4/15|n.574+29A>G||||||,G|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|4/14|n.562+29A>G||||||,G|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|4/17|n.520+29A>G||||||,G|intron_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000451176|antisense|2/2|n.510+741T>C||||||,G|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000449635|protein_coding|2/5|c.361+29A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay|3/6|n.496+29A>G|||||| 22 41613188 . C T . . ANN=T|synonymous_variant|LOW|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|5/17|c.582C>T|p.Pro194Pro|740/3296|582/2118|194/705||,T|synonymous_variant|LOW|L3MBTL2|ENSG00000100395|transcript|ENST00000449635|protein_coding|3/6|c.423C>T|p.Pro141Pro|424/864|423/863|141/286||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_1|ENST00000216237|protein_coding|7/17|c.582C>T||||||,T|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_1|ENST00000216237|protein_coding|5/17|c.582C>T||||||,T|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_1|ENST00000216237|protein_coding|6/17|c.582C>T||||||,T|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000489136|processed_transcript||n.*751C>T|||||11|,T|non_coding_exon_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000441316|antisense|1/3|n.444G>A||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron|5/14|n.705C>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|5/16|n.636C>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|5/15|n.624C>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|5/18|n.582C>T||||||,T|non_coding_exon_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000451176|antisense|2/3|n.358G>A||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay|4/7|n.558C>T|||||| 22 41613246 . G A . . ANN=A|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_1|ENST00000216237|protein_coding|7/17|c.600+40G>A||||||,A|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_1|ENST00000216237|protein_coding|5/17|c.600+40G>A||||||,A|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_1|ENST00000216237|protein_coding|6/17|c.600+40G>A||||||,A|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000489136|processed_transcript||n.*751G>A|||||69|,A|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|5/16|c.600+40G>A||||||,A|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron|5/13|n.723+40G>A||||||,A|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|5/15|n.654+40G>A||||||,A|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|5/17|n.600+40G>A||||||,A|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000449635|protein_coding|3/5|c.441+40G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay|4/6|n.576+40G>A||||||,A|non_coding_exon_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000441316|antisense|1/3|n.386C>T||||||,A|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|5/15|n.682G>A||||||,A|non_coding_exon_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000451176|antisense|2/3|n.300C>T|||||| 22 41613250 . C A . . ANN=A|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_1|ENST00000216237|protein_coding|7/17|c.600+44C>A||||||,A|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_1|ENST00000216237|protein_coding|5/17|c.600+44C>A||||||,A|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_1|ENST00000216237|protein_coding|6/17|c.600+44C>A||||||,A|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000489136|processed_transcript||n.*751C>A|||||73|,A|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|5/16|c.600+44C>A||||||,A|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron|5/13|n.723+44C>A||||||,A|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|5/15|n.654+44C>A||||||,A|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|5/17|n.600+44C>A||||||,A|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000449635|protein_coding|3/5|c.441+44C>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay|4/6|n.576+44C>A||||||,A|non_coding_exon_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000441316|antisense|1/3|n.382G>T||||||,A|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|5/15|n.686C>A||||||,A|non_coding_exon_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000451176|antisense|2/3|n.296G>T|||||| 22 41615376 . C T . . ANN=T|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_1|ENST00000216237|protein_coding|7/17|c.601-47C>T||||||,T|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_1|ENST00000216237|protein_coding|5/17|c.601-47C>T||||||,T|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_1|ENST00000216237|protein_coding|6/17|c.601-47C>T||||||,T|upstream_gene_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000441316|antisense||n.-1G>A|||||1745|,T|upstream_gene_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000451176|antisense||n.-1G>A|||||1749|,T|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000489136|processed_transcript||n.*751C>T|||||2199|,T|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|5/16|c.601-47C>T||||||,T|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron|5/13|n.724-47C>T||||||,T|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|5/15|n.655-47C>T||||||,T|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|5/17|n.601-47C>T||||||,T|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000449635|protein_coding|3/5|c.442-47C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay|4/6|n.577-1362C>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|5/15|n.2812C>T|||||| 22 41615404 . C T . . ANN=T|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_1|ENST00000216237|protein_coding|7/17|c.601-19C>T||||||,T|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_1|ENST00000216237|protein_coding|5/17|c.601-19C>T||||||,T|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_1|ENST00000216237|protein_coding|6/17|c.601-19C>T||||||,T|upstream_gene_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000441316|antisense||n.-1G>A|||||1773|,T|upstream_gene_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000451176|antisense||n.-1G>A|||||1777|,T|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000489136|processed_transcript||n.*751C>T|||||2227|,T|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|5/16|c.601-19C>T||||||,T|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron|5/13|n.724-19C>T||||||,T|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|5/15|n.655-19C>T||||||,T|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|5/17|n.601-19C>T||||||,T|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000449635|protein_coding|3/5|c.442-19C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay|4/6|n.577-1334C>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|5/15|n.2840C>T|||||| 22 41615581 . G A . . ANN=A|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_1|ENST00000216237|protein_coding|7/17|c.718+41G>A||||||,A|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_1|ENST00000216237|protein_coding|5/17|c.718+41G>A||||||,A|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_1|ENST00000216237|protein_coding|6/17|c.718+41G>A||||||,A|upstream_gene_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000441316|antisense||n.-1C>T|||||1950|,A|upstream_gene_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000451176|antisense||n.-1C>T|||||1954|,A|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000489136|processed_transcript||n.*751G>A|||||2404|,A|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|6/16|c.718+41G>A||||||,A|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron|6/13|n.841+41G>A||||||,A|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|6/15|n.772+41G>A||||||,A|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|5/14|n.2976+41G>A||||||,A|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|6/17|n.718+41G>A||||||,A|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000449635|protein_coding|4/5|c.559+41G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay|4/6|n.577-1157G>A|||||| 22 41616696 . C T . . ANN=T|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_1|ENST00000216237|protein_coding|7/17|c.719-42C>T||||||,T|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_1|ENST00000216237|protein_coding|5/17|c.719-42C>T||||||,T|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_1|ENST00000216237|protein_coding|6/17|c.719-42C>T||||||,T|upstream_gene_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000441316|antisense||n.-1G>A|||||3065|,T|upstream_gene_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000451176|antisense||n.-1G>A|||||3069|,T|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000489136|processed_transcript||n.*751C>T|||||3519|,T|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|6/16|c.719-42C>T||||||,T|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron|6/13|n.842-42C>T||||||,T|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|6/15|n.773-42C>T||||||,T|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|5/14|n.2977-42C>T||||||,T|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|6/17|n.719-42C>T||||||,T|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000449635|protein_coding|4/5|c.560-42C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay|4/6|n.577-42C>T|||||| 22 41616757 . G C . . ANN=C|synonymous_variant|LOW|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|7/17|c.738G>C|p.Arg246Arg|896/3296|738/2118|246/705||,C|synonymous_variant|LOW|L3MBTL2|ENSG00000100395|transcript|ENST00000449635|protein_coding|5/6|c.579G>C|p.Arg193Arg|580/864|579/863|193/286||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_1|ENST00000216237|protein_coding|7/17|c.738G>C||||||,C|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_1|ENST00000216237|protein_coding|5/17|c.738G>C||||||,C|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_1|ENST00000216237|protein_coding|6/17|c.738G>C||||||,C|sequence_feature|LOW|L3MBTL2|ENSG00000100395|beta_strand|ENST00000216237|protein_coding|7/17|c.738G>C||||||,C|upstream_gene_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000441316|antisense||n.-1C>G|||||3126|,C|upstream_gene_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000451176|antisense||n.-1C>G|||||3130|,C|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000489136|processed_transcript||n.*751G>C|||||3580|,C|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron|7/14|n.861G>C||||||,C|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|7/16|n.792G>C||||||,C|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|6/15|n.2996G>C||||||,C|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|7/18|n.738G>C||||||,C|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay|5/7|n.596G>C|||||| 22 41616778 . C T . . ANN=T|synonymous_variant|LOW|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|7/17|c.759C>T|p.Asp253Asp|917/3296|759/2118|253/705||,T|synonymous_variant|LOW|L3MBTL2|ENSG00000100395|transcript|ENST00000449635|protein_coding|5/6|c.600C>T|p.Asp200Asp|601/864|600/863|200/286||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_1|ENST00000216237|protein_coding|7/17|c.759C>T||||||,T|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_1|ENST00000216237|protein_coding|5/17|c.759C>T||||||,T|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_1|ENST00000216237|protein_coding|6/17|c.759C>T||||||,T|upstream_gene_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000441316|antisense||n.-1G>A|||||3147|,T|upstream_gene_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000451176|antisense||n.-1G>A|||||3151|,T|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000489136|processed_transcript||n.*751C>T|||||3601|,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron|7/14|n.882C>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|7/16|n.813C>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|6/15|n.3017C>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|7/18|n.759C>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay|5/7|n.617C>T|||||| 22 41616805 . G T . . ANN=T|synonymous_variant|LOW|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|7/17|c.786G>T|p.Leu262Leu|944/3296|786/2118|262/705||,T|synonymous_variant|LOW|L3MBTL2|ENSG00000100395|transcript|ENST00000449635|protein_coding|5/6|c.627G>T|p.Leu209Leu|628/864|627/863|209/286||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_1|ENST00000216237|protein_coding|7/17|c.786G>T||||||,T|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_1|ENST00000216237|protein_coding|5/17|c.786G>T||||||,T|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_1|ENST00000216237|protein_coding|6/17|c.786G>T||||||,T|upstream_gene_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000441316|antisense||n.-1C>A|||||3174|,T|upstream_gene_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000451176|antisense||n.-1C>A|||||3178|,T|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000489136|processed_transcript||n.*751G>T|||||3628|,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron|7/14|n.909G>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|7/16|n.840G>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|6/15|n.3044G>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|7/18|n.786G>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay|5/7|n.644G>T|||||| 22 41616906 . C T . . ANN=T|sequence_feature|LOW|L3MBTL2|ENSG00000100395|turn|ENST00000216237|protein_coding|7/17|c.853+34C>T||||||,T|sequence_feature|LOW|L3MBTL2|ENSG00000100395|turn|ENST00000216237|protein_coding|8/17|c.853+34C>T||||||,T|upstream_gene_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000441316|antisense||n.-1G>A|||||3275|,T|upstream_gene_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000451176|antisense||n.-1G>A|||||3279|,T|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000489136|processed_transcript||n.*751C>T|||||3729|,T|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|7/16|c.853+34C>T||||||,T|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron|7/13|n.976+34C>T||||||,T|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|7/15|n.907+34C>T||||||,T|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|6/14|n.3111+34C>T||||||,T|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|7/17|n.853+34C>T||||||,T|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000449635|protein_coding|5/5|c.694+34C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay|5/6|n.*12+34C>T|||||| 22 41617159 . G GC,GT . . ANN=C|sequence_feature|LOW|L3MBTL2|ENSG00000100395|turn|ENST00000216237|protein_coding|7/17|c.854-44_854-43insC||||||,C|sequence_feature|LOW|L3MBTL2|ENSG00000100395|turn|ENST00000216237|protein_coding|8/17|c.854-44_854-43insC||||||,T|sequence_feature|LOW|L3MBTL2|ENSG00000100395|turn|ENST00000216237|protein_coding|7/17|c.854-44_854-43insT||||||,T|sequence_feature|LOW|L3MBTL2|ENSG00000100395|turn|ENST00000216237|protein_coding|8/17|c.854-44_854-43insT||||||,C|upstream_gene_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000441316|antisense||n.-1_-1insG|||||3529|,T|upstream_gene_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000441316|antisense||n.-1dupA|||||3529|,C|upstream_gene_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000451176|antisense||n.-1_-1insG|||||3533|,T|upstream_gene_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000451176|antisense||n.-1dupA|||||3533|,C|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000489136|processed_transcript||n.*751_*751insC|||||3983|,T|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000489136|processed_transcript||n.*751_*751insT|||||3983|,C|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|7/16|c.854-44_854-43insC||||||,T|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|7/16|c.854-41dupT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron|7/13|n.977-44_977-43insC||||||,T|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron|7/13|n.977-41dupT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|7/15|n.908-44_908-43insC||||||,T|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|7/15|n.908-41dupT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|6/14|n.3112-44_3112-43insC||||||,T|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|6/14|n.3112-41dupT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|7/17|n.854-44_854-43insC||||||,T|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|7/17|n.854-41dupT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000449635|protein_coding|5/5|c.695-44_695-43insC||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000449635|protein_coding|5/5|c.695-41dupT||||||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay|5/6|n.*13-44_*13-43insC||||||,T|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay|5/6|n.*13-41dupT||||||INFO_REALIGN_3_PRIME 22 41617160 . T TG . . ANN=G|sequence_feature|LOW|L3MBTL2|ENSG00000100395|turn|ENST00000216237|protein_coding|7/17|c.854-43_854-42insG||||||,G|sequence_feature|LOW|L3MBTL2|ENSG00000100395|turn|ENST00000216237|protein_coding|8/17|c.854-43_854-42insG||||||,G|upstream_gene_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000441316|antisense||n.-1_-1insC|||||3530|,G|upstream_gene_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000451176|antisense||n.-1_-1insC|||||3534|,G|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000489136|processed_transcript||n.*751_*751insG|||||3984|,G|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|7/16|c.854-43_854-42insG||||||,G|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron|7/13|n.977-43_977-42insG||||||,G|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|7/15|n.908-43_908-42insG||||||,G|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|6/14|n.3112-43_3112-42insG||||||,G|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|7/17|n.854-43_854-42insG||||||,G|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000449635|protein_coding|5/5|c.695-43_695-42insG||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay|5/6|n.*13-43_*13-42insG|||||| 22 41617247 . C T . . ANN=T|missense_variant|MODERATE|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|8/17|c.898C>T|p.Arg300Trp|1056/3296|898/2118|300/705||,T|missense_variant|MODERATE|L3MBTL2|ENSG00000100395|transcript|ENST00000449635|protein_coding|6/6|c.739C>T|p.Arg247Trp|740/864|739/863|247/286||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_2|ENST00000216237|protein_coding|8/17|c.898C>T||||||,T|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_2|ENST00000216237|protein_coding|9/17|c.898C>T||||||,T|sequence_feature|LOW|L3MBTL2|ENSG00000100395|helix|ENST00000216237|protein_coding|8/17|c.898C>T||||||,T|3_prime_UTR_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay|6/7|n.*57C>T|||||387|,T|upstream_gene_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000441316|antisense||n.-1G>A|||||3616|,T|upstream_gene_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000451176|antisense||n.-1G>A|||||3620|,T|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000489136|processed_transcript||n.*751C>T|||||4070|,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron|8/14|n.1021C>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|8/16|n.952C>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|7/15|n.3156C>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|8/18|n.898C>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay|6/7|n.*57C>T|||||| 22 41617318 . G C . . ANN=C|synonymous_variant|LOW|L3MBTL2|ENSG00000100395|transcript|ENST00000449635|protein_coding|6/6|c.810G>C|p.Val270Val|811/864|810/863|270/286||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_2|ENST00000216237|protein_coding|8/17|c.942+27G>C||||||,C|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_2|ENST00000216237|protein_coding|9/17|c.942+27G>C||||||,C|sequence_feature|LOW|L3MBTL2|ENSG00000100395|helix|ENST00000216237|protein_coding|8/17|c.942+27G>C||||||,C|sequence_feature|LOW|L3MBTL2|ENSG00000100395|helix|ENST00000216237|protein_coding|9/17|c.942+27G>C||||||,C|upstream_gene_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000441316|antisense||n.-1C>G|||||3687|,C|upstream_gene_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000451176|antisense||n.-1C>G|||||3691|,C|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000489136|processed_transcript||n.*751G>C|||||4141|,C|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|8/16|c.942+27G>C||||||,C|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron|8/13|n.1065+27G>C||||||,C|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|8/15|n.996+27G>C||||||,C|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|7/14|n.3200+27G>C||||||,C|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|8/17|n.942+27G>C||||||,C|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay|6/6|n.*101+27G>C|||||| 22 41620091 . T C . . ANN=C|missense_variant|MODERATE|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|9/17|c.1010T>C|p.Val337Ala|1168/3296|1010/2118|337/705||,C|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_2|ENST00000216237|protein_coding|8/17|c.1010T>C||||||,C|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_2|ENST00000216237|protein_coding|9/17|c.1010T>C||||||,C|3_prime_UTR_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay|7/7|n.*169T>C|||||3231|,C|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000449635|protein_coding||c.*864T>C|||||2720|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron|9/14|n.1133T>C||||||,C|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|9/16|n.1064T>C||||||,C|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|8/15|n.3268T>C||||||,C|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|9/18|n.1010T>C||||||,C|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay|7/7|n.*169T>C|||||| 22 41620681 . G T . . ANN=T|downstream_gene_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000216241|protein_coding||c.*2342C>A|||||4836|,T|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000449635|protein_coding||c.*864G>T|||||3310|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay||n.*699G>T|||||512|,T|downstream_gene_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000417999|protein_coding||c.*2054C>A|||||4836|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|9/16|c.1175-48G>T||||||,T|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron|9/13|n.1298-48G>T||||||,T|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|9/15|n.1229-48G>T||||||,T|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|8/14|n.3433-48G>T||||||,T|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|9/17|n.1175-48G>T|||||| 22 41620825 . C T . . ANN=T|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_3|ENST00000216237|protein_coding|10/17|c.1251+20C>T||||||,T|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_3|ENST00000216237|protein_coding|12/17|c.1251+20C>T||||||,T|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_3|ENST00000216237|protein_coding|11/17|c.1251+20C>T||||||,T|downstream_gene_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000216241|protein_coding||c.*2342G>A|||||4692|,T|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000449635|protein_coding||c.*864C>T|||||3454|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay||n.*699C>T|||||656|,T|downstream_gene_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000417999|protein_coding||c.*2054G>A|||||4692|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|10/16|c.1251+20C>T||||||,T|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron|10/13|n.1374+20C>T||||||,T|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|10/15|n.1305+20C>T||||||,T|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|9/14|n.3509+20C>T||||||,T|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|10/17|n.1251+20C>T|||||| 22 41621057 . C T . . ANN=T|synonymous_variant|LOW|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|11/17|c.1338C>T|p.Cys446Cys|1496/3296|1338/2118|446/705||,T|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_3|ENST00000216237|protein_coding|10/17|c.1338C>T||||||,T|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_3|ENST00000216237|protein_coding|12/17|c.1338C>T||||||,T|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_3|ENST00000216237|protein_coding|11/17|c.1338C>T||||||,T|sequence_feature|LOW|L3MBTL2|ENSG00000100395|beta_strand|ENST00000216237|protein_coding|12/17|c.1338C>T||||||,T|sequence_feature|LOW|L3MBTL2|ENSG00000100395|beta_strand|ENST00000216237|protein_coding|11/17|c.1338C>T||||||,T|downstream_gene_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000216241|protein_coding||c.*2342G>A|||||4460|,T|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000449635|protein_coding||c.*864C>T|||||3686|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay||n.*699C>T|||||888|,T|downstream_gene_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000417999|protein_coding||c.*2054G>A|||||4460|WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron|11/14|n.1461C>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|11/16|n.1392C>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|10/15|n.3596C>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|11/18|n.1338C>T|||||| 22 41621086 . G A . . ANN=A|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_3|ENST00000216237|protein_coding|10/17|c.1356+11G>A||||||,A|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_3|ENST00000216237|protein_coding|12/17|c.1356+11G>A||||||,A|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_3|ENST00000216237|protein_coding|11/17|c.1356+11G>A||||||,A|sequence_feature|LOW|L3MBTL2|ENSG00000100395|beta_strand|ENST00000216237|protein_coding|12/17|c.1356+11G>A||||||,A|sequence_feature|LOW|L3MBTL2|ENSG00000100395|beta_strand|ENST00000216237|protein_coding|11/17|c.1356+11G>A||||||,A|downstream_gene_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000216241|protein_coding||c.*2342C>T|||||4431|,A|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000449635|protein_coding||c.*864G>A|||||3715|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay||n.*699G>A|||||917|,A|downstream_gene_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000417999|protein_coding||c.*2054C>T|||||4431|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|11/16|c.1356+11G>A||||||,A|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron|11/13|n.1479+11G>A||||||,A|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|11/15|n.1410+11G>A||||||,A|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|10/14|n.3614+11G>A||||||,A|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|11/17|n.1356+11G>A|||||| 22 41621751 . G T . . ANN=T|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_3|ENST00000216237|protein_coding|10/17|c.1357-47G>T||||||,T|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_3|ENST00000216237|protein_coding|12/17|c.1357-47G>T||||||,T|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_3|ENST00000216237|protein_coding|11/17|c.1357-47G>T||||||,T|sequence_feature|LOW|L3MBTL2|ENSG00000100395|beta_strand|ENST00000216237|protein_coding|12/17|c.1357-47G>T||||||,T|sequence_feature|LOW|L3MBTL2|ENSG00000100395|beta_strand|ENST00000216237|protein_coding|11/17|c.1357-47G>T||||||,T|downstream_gene_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000216241|protein_coding||c.*2342C>A|||||3766|,T|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000449635|protein_coding||c.*864G>T|||||4380|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay||n.*699G>T|||||1582|,T|downstream_gene_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000417999|protein_coding||c.*2054C>A|||||3766|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|11/16|c.1357-47G>T||||||,T|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron|11/13|n.1480-47G>T||||||,T|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|11/15|n.1411-47G>T||||||,T|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|10/14|n.3615-47G>T||||||,T|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|11/17|n.1357-47G>T|||||| 22 41621788 . C T . . ANN=T|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_3|ENST00000216237|protein_coding|10/17|c.1357-10C>T||||||,T|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_3|ENST00000216237|protein_coding|12/17|c.1357-10C>T||||||,T|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_3|ENST00000216237|protein_coding|11/17|c.1357-10C>T||||||,T|sequence_feature|LOW|L3MBTL2|ENSG00000100395|beta_strand|ENST00000216237|protein_coding|12/17|c.1357-10C>T||||||,T|sequence_feature|LOW|L3MBTL2|ENSG00000100395|beta_strand|ENST00000216237|protein_coding|11/17|c.1357-10C>T||||||,T|downstream_gene_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000216241|protein_coding||c.*2342G>A|||||3729|,T|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000449635|protein_coding||c.*864C>T|||||4417|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay||n.*699C>T|||||1619|,T|downstream_gene_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000417999|protein_coding||c.*2054G>A|||||3729|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|11/16|c.1357-10C>T||||||,T|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron|11/13|n.1480-10C>T||||||,T|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|11/15|n.1411-10C>T||||||,T|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|10/14|n.3615-10C>T||||||,T|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|11/17|n.1357-10C>T|||||| 22 41621871 . A C . . ANN=C|missense_variant|MODERATE|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|12/17|c.1430A>C|p.Tyr477Ser|1588/3296|1430/2118|477/705||,C|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_3|ENST00000216237|protein_coding|10/17|c.1430A>C||||||,C|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_3|ENST00000216237|protein_coding|12/17|c.1430A>C||||||,C|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_3|ENST00000216237|protein_coding|11/17|c.1430A>C||||||,C|sequence_feature|LOW|L3MBTL2|ENSG00000100395|beta_strand|ENST00000216237|protein_coding|12/17|c.1430A>C||||||,C|downstream_gene_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000216241|protein_coding||c.*2342T>G|||||3646|,C|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000449635|protein_coding||c.*864A>C|||||4500|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay||n.*699A>C|||||1702|,C|downstream_gene_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000417999|protein_coding||c.*2054T>G|||||3646|WARNING_TRANSCRIPT_NO_START_CODON,C|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron|12/14|n.1553A>C||||||,C|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|12/16|n.1484A>C||||||,C|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|11/15|n.3688A>C||||||,C|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|12/18|n.1430A>C|||||| 22 41622663 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|12/16|c.1505-3C>T||||||,T|splice_region_variant&intron_variant|LOW|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron|12/13|n.1628-3C>T||||||,T|splice_region_variant&intron_variant|LOW|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|12/15|n.1559-3C>T||||||,T|splice_region_variant&intron_variant|LOW|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|11/14|n.3763-3C>T||||||,T|splice_region_variant&intron_variant|LOW|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|12/17|n.1505-3C>T||||||,T|downstream_gene_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000216241|protein_coding||c.*2342G>A|||||2854|,T|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay||n.*699C>T|||||2494|,T|downstream_gene_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000417999|protein_coding||c.*2054G>A|||||2854|WARNING_TRANSCRIPT_NO_START_CODON 22 41622724 . C T . . ANN=T|synonymous_variant|LOW|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|13/17|c.1563C>T|p.Ala521Ala|1721/3296|1563/2118|521/705||,T|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_4|ENST00000216237|protein_coding|14/17|c.1563C>T||||||,T|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_4|ENST00000216237|protein_coding|13/17|c.1563C>T||||||,T|downstream_gene_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000216241|protein_coding||c.*2342G>A|||||2793|,T|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay||n.*699C>T|||||2555|,T|downstream_gene_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000417999|protein_coding||c.*2054G>A|||||2793|WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron|13/14|n.1686C>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|13/16|n.1617C>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|12/15|n.3821C>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|13/18|n.1563C>T|||||| 22 41622770 . A G . . ANN=G|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_4|ENST00000216237|protein_coding|14/17|c.1587+22A>G||||||,G|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_4|ENST00000216237|protein_coding|13/17|c.1587+22A>G||||||,G|downstream_gene_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000216241|protein_coding||c.*2342T>C|||||2747|,G|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay||n.*699A>G|||||2601|,G|downstream_gene_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000417999|protein_coding||c.*2054T>C|||||2747|WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|13/16|c.1587+22A>G||||||,G|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron|13/13|n.1710+22A>G||||||,G|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|13/15|n.1641+22A>G||||||,G|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|12/14|n.3845+22A>G||||||,G|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|13/17|n.1587+22A>G|||||| 22 41622781 . G A . . ANN=A|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_4|ENST00000216237|protein_coding|14/17|c.1587+33G>A||||||,A|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_4|ENST00000216237|protein_coding|13/17|c.1587+33G>A||||||,A|downstream_gene_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000216241|protein_coding||c.*2342C>T|||||2736|,A|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay||n.*699G>A|||||2612|,A|downstream_gene_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000417999|protein_coding||c.*2054C>T|||||2736|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|13/16|c.1587+33G>A||||||,A|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron|13/13|n.1710+33G>A||||||,A|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|13/15|n.1641+33G>A||||||,A|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|12/14|n.3845+33G>A||||||,A|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|13/17|n.1587+33G>A|||||| 22 41623179 . G A . . ANN=A|synonymous_variant|LOW|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|14/17|c.1674G>A|p.Val558Val|1832/3296|1674/2118|558/705||,A|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_4|ENST00000216237|protein_coding|14/17|c.1674G>A||||||,A|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_4|ENST00000216237|protein_coding|13/17|c.1674G>A||||||,A|sequence_feature|LOW|L3MBTL2|ENSG00000100395|beta_strand|ENST00000216237|protein_coding|14/17|c.1674G>A||||||,A|downstream_gene_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000216241|protein_coding||c.*2342C>T|||||2338|,A|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay||n.*699G>A|||||3010|,A|downstream_gene_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000417999|protein_coding||c.*2054C>T|||||2338|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron|14/14|n.1797G>A||||||,A|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|14/16|n.1728G>A||||||,A|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|13/15|n.3932G>A||||||,A|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|14/18|n.1674G>A|||||| 22 41623305 . G A . . ANN=A|synonymous_variant|LOW|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|14/17|c.1800G>A|p.Gln600Gln|1958/3296|1800/2118|600/705||,A|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_4|ENST00000216237|protein_coding|14/17|c.1800G>A||||||,A|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_4|ENST00000216237|protein_coding|13/17|c.1800G>A||||||,A|downstream_gene_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000216241|protein_coding||c.*2342C>T|||||2212|,A|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay||n.*699G>A|||||3136|,A|downstream_gene_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000417999|protein_coding||c.*2054C>T|||||2212|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron|14/14|n.1923G>A||||||,A|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|14/16|n.1854G>A||||||,A|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|13/15|n.4058G>A||||||,A|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|14/18|n.1800G>A|||||| 22 41623324 . G T . . ANN=T|missense_variant|MODERATE|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|14/17|c.1819G>T|p.Ala607Ser|1977/3296|1819/2118|607/705||,T|sequence_feature|LOW|L3MBTL2|ENSG00000100395|beta_strand|ENST00000216237|protein_coding|14/17|c.1819G>T||||||,T|downstream_gene_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000216241|protein_coding||c.*2342C>A|||||2193|,T|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay||n.*699G>T|||||3155|,T|downstream_gene_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000417999|protein_coding||c.*2054C>A|||||2193|WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron|14/14|n.1942G>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|14/16|n.1873G>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|13/15|n.4077G>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|14/18|n.1819G>T|||||| 22 41623346 . C T . . ANN=T|downstream_gene_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000216241|protein_coding||c.*2342G>A|||||2171|,T|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay||n.*699C>T|||||3177|,T|downstream_gene_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000417999|protein_coding||c.*2054G>A|||||2171|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|14/16|c.1822+19C>T||||||,T|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|14/17|n.1822+19C>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron|14/14|n.1964C>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|14/16|n.1895C>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|13/15|n.4099C>T|||||| 22 41623351 . A G . . ANN=G|downstream_gene_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000216241|protein_coding||c.*2342T>C|||||2166|,G|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay||n.*699A>G|||||3182|,G|downstream_gene_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000417999|protein_coding||c.*2054T>C|||||2166|WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|14/16|c.1822+24A>G||||||,G|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|14/17|n.1822+24A>G||||||,G|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron|14/14|n.1969A>G||||||,G|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|14/16|n.1900A>G||||||,G|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|13/15|n.4104A>G|||||| 22 41623773 . T C . . ANN=C|downstream_gene_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000216241|protein_coding||c.*2342A>G|||||1744|,C|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay||n.*699T>C|||||3604|,C|downstream_gene_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000417999|protein_coding||c.*2054A>G|||||1744|WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|14/16|c.1823-35T>C||||||,C|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|15/17|n.*83-35T>C||||||,C|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron|14/14|n.2391T>C||||||,C|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|14/16|n.2322T>C||||||,C|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|13/15|n.4526T>C|||||| 22 41623888 . G A . . ANN=A|downstream_gene_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000216241|protein_coding||c.*2342C>T|||||1629|,A|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron||n.*2432G>A|||||74|,A|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay||n.*699G>A|||||3719|,A|downstream_gene_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000417999|protein_coding||c.*2054C>T|||||1629|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|15/16|c.1888+15G>A||||||,A|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|14/15|n.2422+15G>A||||||,A|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|13/14|n.4626+15G>A||||||,A|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|16/17|n.*148+15G>A|||||| 22 41623890 . T A . . ANN=A|downstream_gene_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000216241|protein_coding||c.*2342A>T|||||1627|,A|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron||n.*2432T>A|||||76|,A|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay||n.*699T>A|||||3721|,A|downstream_gene_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000417999|protein_coding||c.*2054A>T|||||1627|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|15/16|c.1888+17T>A||||||,A|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|14/15|n.2422+17T>A||||||,A|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|13/14|n.4626+17T>A||||||,A|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|16/17|n.*148+17T>A|||||| 22 41625554 . C T . . ANN=T|synonymous_variant|LOW|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|16/17|c.1899C>T|p.Ile633Ile|2057/3296|1899/2118|633/705||,T|3_prime_UTR_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000216241|protein_coding|6/6|c.*154G>A|||||154|,T|3_prime_UTR_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|17/18|n.*159C>T|||||1953|,T|3_prime_UTR_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000417999|protein_coding|5/5|c.*154G>A|||||154|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron||n.*2432C>T|||||1740|,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|15/16|n.2433C>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|14/15|n.4637C>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|17/18|n.*159C>T|||||| 22 41625582 . CAG C . . ANN=|frameshift_variant|HIGH|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|16/17|c.1928_1929delAG|p.Gln643fs|2086/3296|1928/2118|643/705||,|3_prime_UTR_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000216241|protein_coding|6/6|c.*124_*125delCT|||||124|,|3_prime_UTR_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|17/18|n.*188_*189delAG|||||1982|,|3_prime_UTR_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000417999|protein_coding|5/5|c.*124_*125delCT|||||124|WARNING_TRANSCRIPT_NO_START_CODON,|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron||n.*2432_*2432delAG|||||1769|,|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|15/16|n.2462_2463delAG||||||,|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|14/15|n.4666_4667delAG||||||,|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|17/18|n.*188_*189delAG||||||;LOF=(L3MBTL2|ENSG00000100395|9|0.11) 22 41625590 . C T . . ANN=T|synonymous_variant|LOW|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|16/17|c.1935C>T|p.Ser645Ser|2093/3296|1935/2118|645/705||,T|3_prime_UTR_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000216241|protein_coding|6/6|c.*118G>A|||||118|,T|3_prime_UTR_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|17/18|n.*195C>T|||||1989|,T|3_prime_UTR_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000417999|protein_coding|5/5|c.*118G>A|||||118|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron||n.*2432C>T|||||1776|,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|15/16|n.2469C>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|14/15|n.4673C>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|17/18|n.*195C>T|||||| 22 41625611 . C T . . ANN=T|synonymous_variant|LOW|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|16/17|c.1956C>T|p.Asp652Asp|2114/3296|1956/2118|652/705||,T|3_prime_UTR_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000216241|protein_coding|6/6|c.*97G>A|||||97|,T|3_prime_UTR_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|17/18|n.*216C>T|||||2010|,T|3_prime_UTR_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000417999|protein_coding|5/5|c.*97G>A|||||97|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron||n.*2432C>T|||||1797|,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|15/16|n.2490C>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|14/15|n.4694C>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|17/18|n.*216C>T|||||| 22 41625709 . C CA . . ANN=A|frameshift_variant&stop_lost|HIGH|CHADL|ENSG00000100399|transcript|ENST00000216241|protein_coding|6/6|c.2287dupT|p.Ter763fs|2340/2533|2287/2289|763/762||,A|frameshift_variant&stop_lost|HIGH|CHADL|ENSG00000100399|transcript|ENST00000417999|protein_coding|5/5|c.2050dupT|p.Ter684fs|2052/2245|2050/2052|684/683||WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron||n.*2432_*2432insA|||||1896|,A|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|16/16|c.2005+50dupA||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|15/15|n.2539+50dupA||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|14/14|n.4743+50dupA||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|17/17|n.*265+50dupA||||||INFO_REALIGN_3_PRIME 22 41626111 . C A . . ANN=A|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron||n.*2432C>A|||||2297|,A|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|16/16|c.2006-32C>A||||||,A|intron_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000216241|protein_coding|5/5|c.2263-377G>T||||||,A|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|15/15|n.2540-32C>A||||||,A|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|14/14|n.4744-32C>A||||||,A|intron_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|17/17|n.*266-32C>A||||||,A|intron_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000417999|protein_coding|4/4|c.2026-377G>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 41626190 . G A . . ANN=A|missense_variant|MODERATE|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|17/17|c.2053G>A|p.Asp685Asn|2211/3296|2053/2118|685/705||,A|3_prime_UTR_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|18/18|n.*313G>A|||||2589|,A|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron||n.*2432G>A|||||2376|,A|downstream_gene_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000455425|protein_coding||c.*758C>T|||||4954|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000216241|protein_coding|5/5|c.2263-456C>T||||||,A|intron_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000417999|protein_coding|4/4|c.2026-456C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|16/16|n.2587G>A||||||,A|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|15/15|n.4791G>A||||||,A|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|18/18|n.*313G>A|||||| 22 41626245 . C T . . ANN=T|missense_variant|MODERATE|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|17/17|c.2108C>T|p.Thr703Ile|2266/3296|2108/2118|703/705||,T|3_prime_UTR_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|18/18|n.*368C>T|||||2644|,T|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron||n.*2432C>T|||||2431|,T|downstream_gene_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000455425|protein_coding||c.*758G>A|||||4899|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000216241|protein_coding|5/5|c.2263-511G>A||||||,T|intron_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000417999|protein_coding|4/4|c.2026-511G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|16/16|n.2642C>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|15/15|n.4846C>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|18/18|n.*368C>T|||||| 22 41626255 . A G . . ANN=G|stop_lost|HIGH|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|17/17|c.2118A>G|p.Ter706Trpext*?|2276/3296|2118/2118|706/705||,G|3_prime_UTR_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|18/18|n.*378A>G|||||2654|,G|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron||n.*2432A>G|||||2441|,G|downstream_gene_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000455425|protein_coding||c.*758T>C|||||4889|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000216241|protein_coding|5/5|c.2263-521T>C||||||,G|intron_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000417999|protein_coding|4/4|c.2026-521T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|16/16|n.2652A>G||||||,G|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|15/15|n.4856A>G||||||,G|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|18/18|n.*378A>G|||||| 22 41626269 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|17/17|c.*14C>T|||||14|,T|3_prime_UTR_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|18/18|n.*392C>T|||||2668|,T|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron||n.*2432C>T|||||2455|,T|downstream_gene_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000455425|protein_coding||c.*758G>A|||||4875|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000216241|protein_coding|5/5|c.2263-535G>A||||||,T|intron_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000417999|protein_coding|4/4|c.2026-535G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|16/16|n.2666C>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|15/15|n.4870C>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|18/18|n.*392C>T|||||| 22 41642642 . G A . . ANN=A|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|16/16|c.1729C>T|p.Arg577Cys|2033/3060|1729/1764|577/587||,A|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|17/17|c.1729C>T|p.Arg577Cys|2442/3469|1729/1764|577/587||,A|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|15/15|c.1729C>T|p.Arg577Cys|3199/4222|1729/1764|577/587||,A|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|15/15|c.1564C>T|p.Arg522Cys|1597/1792|1564/1599|522/532||,A|sequence_feature|LOW|RANGAP1|ENSG00000100401|helix|ENST00000356244|protein_coding|16/16|c.1729C>T|||||| 22 41645303 . G T . . ANN=T|sequence_feature|LOW|RANGAP1|ENSG00000100401|site:Hydrophobic_interaction_with_UBC9|ENST00000356244|protein_coding|16/16|c.1694+31C>A||||||,T|sequence_feature|LOW|RANGAP1|ENSG00000100401|site:Hydrophobic_interaction_with_UBC9|ENST00000356244|protein_coding|15/16|c.1694+31C>A||||||,T|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|15/15|c.1694+31C>A||||||,T|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|16/16|c.1694+31C>A||||||,T|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|14/14|c.1694+31C>A||||||,T|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|14/14|c.1529+31C>A|||||| 22 41645309 . G A . . ANN=A|sequence_feature|LOW|RANGAP1|ENSG00000100401|site:Hydrophobic_interaction_with_UBC9|ENST00000356244|protein_coding|16/16|c.1694+25C>T||||||,A|sequence_feature|LOW|RANGAP1|ENSG00000100401|site:Hydrophobic_interaction_with_UBC9|ENST00000356244|protein_coding|15/16|c.1694+25C>T||||||,A|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|15/15|c.1694+25C>T||||||,A|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|16/16|c.1694+25C>T||||||,A|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|14/14|c.1694+25C>T||||||,A|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|14/14|c.1529+25C>T|||||| 22 41645341 . C G . . ANN=G|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|15/16|c.1687G>C|p.Val563Leu|1991/3060|1687/1764|563/587||,G|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|16/17|c.1687G>C|p.Val563Leu|2400/3469|1687/1764|563/587||,G|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|14/15|c.1687G>C|p.Val563Leu|3157/4222|1687/1764|563/587||,G|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|14/15|c.1522G>C|p.Val508Leu|1555/1792|1522/1599|508/532||,G|sequence_feature|LOW|RANGAP1|ENSG00000100401|helix|ENST00000356244|protein_coding|15/16|c.1687G>C|||||| 22 41645500 . TG T . . ANN=|sequence_feature|LOW|RANGAP1|ENSG00000100401|short_sequence_motif:SUMO_conjugation|ENST00000356244|protein_coding|15/16|c.1573-46delC||||||,|sequence_feature|LOW|RANGAP1|ENSG00000100401|short_sequence_motif:SUMO_conjugation|ENST00000356244|protein_coding|14/16|c.1573-46delC||||||,|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|14/15|c.1573-46delC||||||,|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|15/16|c.1573-46delC||||||,|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|13/14|c.1573-46delC||||||,|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|13/14|c.1408-46delC|||||| 22 41645707 . G A . . ANN=A|sequence_feature|LOW|RANGAP1|ENSG00000100401|short_sequence_motif:SUMO_conjugation|ENST00000356244|protein_coding|15/16|c.1572+26C>T||||||,A|sequence_feature|LOW|RANGAP1|ENSG00000100401|short_sequence_motif:SUMO_conjugation|ENST00000356244|protein_coding|14/16|c.1572+26C>T||||||,A|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|14/15|c.1572+26C>T||||||,A|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|15/16|c.1572+26C>T||||||,A|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|13/14|c.1572+26C>T||||||,A|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|13/14|c.1407+26C>T|||||| 22 41645724 . C T . . ANN=T|sequence_feature|LOW|RANGAP1|ENSG00000100401|short_sequence_motif:SUMO_conjugation|ENST00000356244|protein_coding|15/16|c.1572+9G>A||||||,T|sequence_feature|LOW|RANGAP1|ENSG00000100401|short_sequence_motif:SUMO_conjugation|ENST00000356244|protein_coding|14/16|c.1572+9G>A||||||,T|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|14/15|c.1572+9G>A||||||,T|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|15/16|c.1572+9G>A||||||,T|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|13/14|c.1572+9G>A||||||,T|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|13/14|c.1407+9G>A|||||| 22 41645757 . C G . . ANN=G|synonymous_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|14/16|c.1548G>C|p.Leu516Leu|1852/3060|1548/1764|516/587||,G|synonymous_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|15/17|c.1548G>C|p.Leu516Leu|2261/3469|1548/1764|516/587||,G|synonymous_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|13/15|c.1548G>C|p.Leu516Leu|3018/4222|1548/1764|516/587||,G|synonymous_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|13/15|c.1383G>C|p.Leu461Leu|1416/1792|1383/1599|461/532||,G|sequence_feature|LOW|RANGAP1|ENSG00000100401|helix|ENST00000356244|protein_coding|14/16|c.1548G>C|||||| 22 41645827 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|13/15|c.1484-6C>T||||||,A|splice_region_variant&intron_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|14/16|c.1484-6C>T||||||,A|splice_region_variant&intron_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|12/14|c.1484-6C>T||||||,A|splice_region_variant&intron_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|12/14|c.1319-6C>T||||||,A|sequence_feature|LOW|RANGAP1|ENSG00000100401|helix|ENST00000356244|protein_coding|13/16|c.1484-6C>T||||||,A|sequence_feature|LOW|RANGAP1|ENSG00000100401|helix|ENST00000356244|protein_coding|14/16|c.1484-6C>T|||||| 22 41645871 . G A . . ANN=A|sequence_feature|LOW|RANGAP1|ENSG00000100401|helix|ENST00000356244|protein_coding|13/16|c.1484-50C>T||||||,A|sequence_feature|LOW|RANGAP1|ENSG00000100401|helix|ENST00000356244|protein_coding|14/16|c.1484-50C>T||||||,A|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|13/15|c.1484-50C>T||||||,A|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|14/16|c.1484-50C>T||||||,A|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|12/14|c.1484-50C>T||||||,A|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|12/14|c.1319-50C>T|||||| 22 41648860 . G A . . ANN=A|downstream_gene_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000446258|protein_coding||c.*759C>T|||||3165|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|12/15|c.1380+16C>T||||||,A|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|13/16|c.1380+16C>T||||||,A|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|11/14|c.1380+16C>T||||||,A|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|11/14|c.1215+16C>T|||||| 22 41648966 . A G . . ANN=G|synonymous_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|12/16|c.1290T>C|p.Pro430Pro|1594/3060|1290/1764|430/587||,G|synonymous_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|13/17|c.1290T>C|p.Pro430Pro|2003/3469|1290/1764|430/587||,G|synonymous_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|11/15|c.1290T>C|p.Pro430Pro|2760/4222|1290/1764|430/587||,G|synonymous_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|11/15|c.1125T>C|p.Pro375Pro|1158/1792|1125/1599|375/532||,G|downstream_gene_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000446258|protein_coding||c.*759T>C|||||3059|WARNING_TRANSCRIPT_INCOMPLETE 22 41648994 . T C . . ANN=C|missense_variant&splice_region_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|12/16|c.1262A>G|p.Glu421Gly|1566/3060|1262/1764|421/587||,C|missense_variant&splice_region_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|13/17|c.1262A>G|p.Glu421Gly|1975/3469|1262/1764|421/587||,C|missense_variant&splice_region_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|11/15|c.1262A>G|p.Glu421Gly|2732/4222|1262/1764|421/587||,C|missense_variant&splice_region_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|11/15|c.1097A>G|p.Glu366Gly|1130/1792|1097/1599|366/532||,C|downstream_gene_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000446258|protein_coding||c.*759A>G|||||3031|WARNING_TRANSCRIPT_INCOMPLETE 22 41650338 . G A,C,T . . ANN=A|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|11/16|c.1234C>T|p.Arg412Trp|1538/3060|1234/1764|412/587||,C|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|11/16|c.1234C>G|p.Arg412Gly|1538/3060|1234/1764|412/587||,A|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|12/17|c.1234C>T|p.Arg412Trp|1947/3469|1234/1764|412/587||,C|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|12/17|c.1234C>G|p.Arg412Gly|1947/3469|1234/1764|412/587||,A|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|10/15|c.1234C>T|p.Arg412Trp|2704/4222|1234/1764|412/587||,C|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|10/15|c.1234C>G|p.Arg412Gly|2704/4222|1234/1764|412/587||,A|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|10/15|c.1069C>T|p.Arg357Trp|1102/1792|1069/1599|357/532||,C|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|10/15|c.1069C>G|p.Arg357Gly|1102/1792|1069/1599|357/532||,T|synonymous_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|11/16|c.1234C>A|p.Arg412Arg|1538/3060|1234/1764|412/587||,T|synonymous_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|12/17|c.1234C>A|p.Arg412Arg|1947/3469|1234/1764|412/587||,T|synonymous_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|10/15|c.1234C>A|p.Arg412Arg|2704/4222|1234/1764|412/587||,T|synonymous_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|10/15|c.1069C>A|p.Arg357Arg|1102/1792|1069/1599|357/532||,A|downstream_gene_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000446258|protein_coding||c.*759C>T|||||1687|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000446258|protein_coding||c.*759C>G|||||1687|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000446258|protein_coding||c.*759C>A|||||1687|WARNING_TRANSCRIPT_INCOMPLETE 22 41650371 . G C . . ANN=C|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|11/16|c.1201C>G|p.Arg401Gly|1505/3060|1201/1764|401/587||,C|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|12/17|c.1201C>G|p.Arg401Gly|1914/3469|1201/1764|401/587||,C|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|10/15|c.1201C>G|p.Arg401Gly|2671/4222|1201/1764|401/587||,C|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|10/15|c.1036C>G|p.Arg346Gly|1069/1792|1036/1599|346/532||,C|downstream_gene_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000446258|protein_coding||c.*759C>G|||||1654|WARNING_TRANSCRIPT_INCOMPLETE 22 41650387 . TTCC T . . ANN=|disruptive_inframe_deletion|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|11/16|c.1182_1184delGGA|p.Glu395del|1488/3060|1182/1764|394/587||,|disruptive_inframe_deletion|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|12/17|c.1182_1184delGGA|p.Glu395del|1897/3469|1182/1764|394/587||,|disruptive_inframe_deletion|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|10/15|c.1182_1184delGGA|p.Glu395del|2654/4222|1182/1764|394/587||,|disruptive_inframe_deletion|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|10/15|c.1017_1019delGGA|p.Glu340del|1052/1792|1017/1599|339/532||,|sequence_feature|LOW|RANGAP1|ENSG00000100401|compositionally_biased_region:Asp/Glu-rich__highly_acidic_|ENST00000356244|protein_coding|11/16|c.1182_1184delGGA||||||,|downstream_gene_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000446258|protein_coding||c.*759_*759delGGA|||||1637|WARNING_TRANSCRIPT_INCOMPLETE 22 41650414 . CTCTTCCTCA C . . ANN=|disruptive_inframe_deletion|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|11/16|c.1149_1157delTGAGGAAGA|p.Asp383_Glu385del|1461/3060|1149/1764|383/587||,|disruptive_inframe_deletion|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|12/17|c.1149_1157delTGAGGAAGA|p.Asp383_Glu385del|1870/3469|1149/1764|383/587||,|disruptive_inframe_deletion|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|10/15|c.1149_1157delTGAGGAAGA|p.Asp383_Glu385del|2627/4222|1149/1764|383/587||,|disruptive_inframe_deletion|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|10/15|c.984_992delTGAGGAAGA|p.Asp328_Glu330del|1025/1792|984/1599|328/532||,|sequence_feature|LOW|RANGAP1|ENSG00000100401|compositionally_biased_region:Asp/Glu-rich__highly_acidic_|ENST00000356244|protein_coding|11/16|c.1149_1157delTGAGGAAGA||||||,|downstream_gene_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000446258|protein_coding||c.*759_*759delTGAGGAAGA|||||1610|WARNING_TRANSCRIPT_INCOMPLETE 22 41650417 . TTCC T . . ANN=|disruptive_inframe_deletion|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|11/16|c.1152_1154delGGA|p.Glu385del|1458/3060|1152/1764|384/587||,|disruptive_inframe_deletion|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|12/17|c.1152_1154delGGA|p.Glu385del|1867/3469|1152/1764|384/587||,|disruptive_inframe_deletion|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|10/15|c.1152_1154delGGA|p.Glu385del|2624/4222|1152/1764|384/587||,|disruptive_inframe_deletion|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|10/15|c.987_989delGGA|p.Glu330del|1022/1792|987/1599|329/532||,|sequence_feature|LOW|RANGAP1|ENSG00000100401|compositionally_biased_region:Asp/Glu-rich__highly_acidic_|ENST00000356244|protein_coding|11/16|c.1152_1154delGGA||||||,|downstream_gene_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000446258|protein_coding||c.*759_*759delGGA|||||1607|WARNING_TRANSCRIPT_INCOMPLETE 22 41650548 . T G . . ANN=G|sequence_feature|MODERATE|RANGAP1|ENSG00000100401|amino_acid_modification:Phosphoserine|ENST00000356244|protein_coding|11/16|c.1074-50A>C||||||,G|sequence_feature|MODERATE|RANGAP1|ENSG00000100401|amino_acid_modification:Phosphoserine|ENST00000356244|protein_coding|10/16|c.1074-50A>C||||||,G|downstream_gene_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000446258|protein_coding||c.*759A>C|||||1477|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|10/15|c.1074-50A>C||||||,G|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|11/16|c.1074-50A>C||||||,G|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|9/14|c.1074-50A>C||||||,G|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|9/14|c.909-50A>C|||||| 22 41651996 . G A . . ANN=A|sequence_feature|MODERATE|RANGAP1|ENSG00000100401|amino_acid_modification:Phosphoserine|ENST00000356244|protein_coding|11/16|c.1073+29C>T||||||,A|sequence_feature|MODERATE|RANGAP1|ENSG00000100401|amino_acid_modification:Phosphoserine|ENST00000356244|protein_coding|10/16|c.1073+29C>T||||||,A|downstream_gene_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000446258|protein_coding||c.*759C>T|||||29|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|10/15|c.1073+29C>T||||||,A|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|11/16|c.1073+29C>T||||||,A|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|9/14|c.1073+29C>T||||||,A|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|9/14|c.908+29C>T|||||| 22 41652030 . G C . . ANN=C|synonymous_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|10/16|c.1068C>G|p.Ser356Ser|1372/3060|1068/1764|356/587||,C|synonymous_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|11/17|c.1068C>G|p.Ser356Ser|1781/3469|1068/1764|356/587||,C|synonymous_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|9/15|c.1068C>G|p.Ser356Ser|2538/4222|1068/1764|356/587||,C|synonymous_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|9/15|c.903C>G|p.Ser301Ser|936/1792|903/1599|301/532||,C|synonymous_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000446258|protein_coding|7/7|c.753C>G|p.Ser251Ser|754/759|753/758|251/251||WARNING_TRANSCRIPT_INCOMPLETE 22 41652080 . G C . . ANN=C|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|10/16|c.1018C>G|p.Gln340Glu|1322/3060|1018/1764|340/587||,C|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|11/17|c.1018C>G|p.Gln340Glu|1731/3469|1018/1764|340/587||,C|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|9/15|c.1018C>G|p.Gln340Glu|2488/4222|1018/1764|340/587||,C|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|9/15|c.853C>G|p.Gln285Glu|886/1792|853/1599|285/532||,C|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000446258|protein_coding|7/7|c.703C>G|p.Gln235Glu|704/759|703/758|235/251||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|RANGAP1|ENSG00000100401|repeat:LRR_6|ENST00000356244|protein_coding|9/16|c.1018C>G||||||,C|sequence_feature|LOW|RANGAP1|ENSG00000100401|repeat:LRR_6|ENST00000356244|protein_coding|10/16|c.1018C>G|||||| 22 41652120 . G A . . ANN=A|sequence_feature|LOW|RANGAP1|ENSG00000100401|repeat:LRR_6|ENST00000356244|protein_coding|9/16|c.989-11C>T||||||,A|sequence_feature|LOW|RANGAP1|ENSG00000100401|repeat:LRR_6|ENST00000356244|protein_coding|10/16|c.989-11C>T||||||,A|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|9/15|c.989-11C>T||||||,A|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|10/16|c.989-11C>T||||||,A|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|8/14|c.989-11C>T||||||,A|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|8/14|c.824-11C>T||||||,A|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000446258|protein_coding|6/6|c.674-11C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 41652250 . C T . . ANN=T|synonymous_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|9/16|c.933G>A|p.Leu311Leu|1237/3060|933/1764|311/587||,T|synonymous_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|10/17|c.933G>A|p.Leu311Leu|1646/3469|933/1764|311/587||,T|synonymous_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|8/15|c.933G>A|p.Leu311Leu|2403/4222|933/1764|311/587||,T|synonymous_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|8/15|c.768G>A|p.Leu256Leu|801/1792|768/1599|256/532||,T|synonymous_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000446258|protein_coding|6/7|c.618G>A|p.Leu206Leu|619/759|618/758|206/251||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|RANGAP1|ENSG00000100401|repeat:LRR_5|ENST00000356244|protein_coding|9/16|c.933G>A||||||,T|sequence_feature|LOW|RANGAP1|ENSG00000100401|repeat:LRR_5|ENST00000356244|protein_coding|8/16|c.933G>A|||||| 22 41652257 . G C . . ANN=C|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|9/16|c.926C>G|p.Ala309Gly|1230/3060|926/1764|309/587||,C|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|10/17|c.926C>G|p.Ala309Gly|1639/3469|926/1764|309/587||,C|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|8/15|c.926C>G|p.Ala309Gly|2396/4222|926/1764|309/587||,C|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|8/15|c.761C>G|p.Ala254Gly|794/1792|761/1599|254/532||,C|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000446258|protein_coding|6/7|c.611C>G|p.Ala204Gly|612/759|611/758|204/251||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|RANGAP1|ENSG00000100401|repeat:LRR_5|ENST00000356244|protein_coding|9/16|c.926C>G||||||,C|sequence_feature|LOW|RANGAP1|ENSG00000100401|repeat:LRR_5|ENST00000356244|protein_coding|8/16|c.926C>G|||||| 22 41652332 . C T . . ANN=T|sequence_feature|LOW|RANGAP1|ENSG00000100401|repeat:LRR_5|ENST00000356244|protein_coding|9/16|c.889-38G>A||||||,T|sequence_feature|LOW|RANGAP1|ENSG00000100401|repeat:LRR_5|ENST00000356244|protein_coding|8/16|c.889-38G>A||||||,T|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|8/15|c.889-38G>A||||||,T|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|9/16|c.889-38G>A||||||,T|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|7/14|c.889-38G>A||||||,T|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|7/14|c.724-38G>A||||||,T|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000446258|protein_coding|5/6|c.574-38G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 41652679 . C A . . ANN=A|sequence_feature|LOW|RANGAP1|ENSG00000100401|repeat:LRR_5|ENST00000356244|protein_coding|9/16|c.888+36G>T||||||,A|sequence_feature|LOW|RANGAP1|ENSG00000100401|repeat:LRR_5|ENST00000356244|protein_coding|8/16|c.888+36G>T||||||,A|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|8/15|c.888+36G>T||||||,A|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|9/16|c.888+36G>T||||||,A|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|7/14|c.888+36G>T||||||,A|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|7/14|c.723+36G>T||||||,A|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000446258|protein_coding|5/6|c.573+36G>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 41652733 . G A . . ANN=A|synonymous_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|8/16|c.870C>T|p.Gly290Gly|1174/3060|870/1764|290/587||,A|synonymous_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|9/17|c.870C>T|p.Gly290Gly|1583/3469|870/1764|290/587||,A|synonymous_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|7/15|c.870C>T|p.Gly290Gly|2340/4222|870/1764|290/587||,A|synonymous_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|7/15|c.705C>T|p.Gly235Gly|738/1792|705/1599|235/532||,A|synonymous_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000446258|protein_coding|5/7|c.555C>T|p.Gly185Gly|556/759|555/758|185/251||WARNING_TRANSCRIPT_INCOMPLETE 22 41652846 . G T . . ANN=T|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|7/15|c.775-18C>A||||||,T|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|8/16|c.775-18C>A||||||,T|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|6/14|c.775-18C>A||||||,T|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|6/14|c.610-18C>A||||||,T|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000446258|protein_coding|4/6|c.460-18C>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 41653902 . G A . . ANN=A|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|7/15|c.774+50C>T||||||,A|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|8/16|c.774+50C>T||||||,A|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|6/14|c.774+50C>T||||||,A|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|6/14|c.609+50C>T||||||,A|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000446258|protein_coding|4/6|c.459+50C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 41653910 . C T . . ANN=T|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|7/15|c.774+42G>A||||||,T|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|8/16|c.774+42G>A||||||,T|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|6/14|c.774+42G>A||||||,T|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|6/14|c.609+42G>A||||||,T|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000446258|protein_coding|4/6|c.459+42G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 41653946 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|7/15|c.774+6G>A||||||,T|splice_region_variant&intron_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|8/16|c.774+6G>A||||||,T|splice_region_variant&intron_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|6/14|c.774+6G>A||||||,T|splice_region_variant&intron_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|6/14|c.609+6G>A||||||,T|splice_region_variant&intron_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000446258|protein_coding|4/6|c.459+6G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 41654030 . G A . . ANN=A|synonymous_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|7/16|c.696C>T|p.Phe232Phe|1000/3060|696/1764|232/587||,A|synonymous_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|8/17|c.696C>T|p.Phe232Phe|1409/3469|696/1764|232/587||,A|synonymous_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|6/15|c.696C>T|p.Phe232Phe|2166/4222|696/1764|232/587||,A|synonymous_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|6/15|c.531C>T|p.Phe177Phe|564/1792|531/1599|177/532||,A|synonymous_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000446258|protein_coding|4/7|c.381C>T|p.Phe127Phe|382/759|381/758|127/251||WARNING_TRANSCRIPT_INCOMPLETE 22 41654123 . G A . . ANN=A|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|6/15|c.616-13C>T||||||,A|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|7/16|c.616-13C>T||||||,A|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|5/14|c.616-13C>T||||||,A|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|5/14|c.451-13C>T||||||,A|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000446258|protein_coding|3/6|c.301-13C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 41657442 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|6/15|c.615+8G>A||||||,T|splice_region_variant&intron_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|7/16|c.615+8G>A||||||,T|splice_region_variant&intron_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|5/14|c.615+8G>A||||||,T|downstream_gene_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000452543|protein_coding||c.*603G>A|||||3306|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|5/14|c.450+3226G>A||||||,T|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000446258|protein_coding|3/6|c.300+3226G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 41657451 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|6/16|c.614G>A|p.Arg205Lys|918/3060|614/1764|205/587||,T|missense_variant&splice_region_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|7/17|c.614G>A|p.Arg205Lys|1327/3469|614/1764|205/587||,T|missense_variant&splice_region_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|5/15|c.614G>A|p.Arg205Lys|2084/4222|614/1764|205/587||,T|downstream_gene_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000452543|protein_coding||c.*603G>A|||||3297|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|5/14|c.450+3217G>A||||||,T|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000446258|protein_coding|3/6|c.300+3217G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 41657477 . G A . . ANN=A|synonymous_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|6/16|c.588C>T|p.Gly196Gly|892/3060|588/1764|196/587||,A|synonymous_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|7/17|c.588C>T|p.Gly196Gly|1301/3469|588/1764|196/587||,A|synonymous_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|5/15|c.588C>T|p.Gly196Gly|2058/4222|588/1764|196/587||,A|downstream_gene_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000452543|protein_coding||c.*603C>T|||||3271|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|5/14|c.450+3191C>T||||||,A|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000446258|protein_coding|3/6|c.300+3191C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 41657511 . A G . . ANN=G|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|6/16|c.554T>C|p.Phe185Ser|858/3060|554/1764|185/587||,G|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|7/17|c.554T>C|p.Phe185Ser|1267/3469|554/1764|185/587||,G|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|5/15|c.554T>C|p.Phe185Ser|2024/4222|554/1764|185/587||,G|downstream_gene_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000452543|protein_coding||c.*603T>C|||||3237|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|5/14|c.450+3157T>C||||||,G|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000446258|protein_coding|3/6|c.300+3157T>C||||||WARNING_TRANSCRIPT_INCOMPLETE 22 41657598 . C T . . ANN=T|downstream_gene_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000452543|protein_coding||c.*603G>A|||||3150|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|5/15|c.481-14G>A||||||,T|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|6/16|c.481-14G>A||||||,T|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|4/14|c.481-14G>A||||||,T|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|5/14|c.450+3070G>A||||||,T|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000446258|protein_coding|3/6|c.300+3070G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 41657608 . T C . . ANN=C|downstream_gene_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000452543|protein_coding||c.*603A>G|||||3140|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|5/15|c.481-24A>G||||||,C|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|6/16|c.481-24A>G||||||,C|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|4/14|c.481-24A>G||||||,C|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|5/14|c.450+3060A>G||||||,C|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000446258|protein_coding|3/6|c.300+3060A>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 41657626 . C T . . ANN=T|downstream_gene_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000452543|protein_coding||c.*603G>A|||||3122|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|5/15|c.481-42G>A||||||,T|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|6/16|c.481-42G>A||||||,T|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|4/14|c.481-42G>A||||||,T|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|5/14|c.450+3042G>A||||||,T|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000446258|protein_coding|3/6|c.300+3042G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 41660645 . G A . . ANN=A|downstream_gene_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000452543|protein_coding||c.*603C>T|||||103|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000418067|protein_coding||c.*650C>T|||||3456|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|5/15|c.480+23C>T||||||,A|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|6/16|c.480+23C>T||||||,A|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|4/14|c.480+23C>T||||||,A|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|5/14|c.450+23C>T||||||,A|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000446258|protein_coding|3/6|c.300+23C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 41660665 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|5/15|c.480+3G>A||||||,T|splice_region_variant&intron_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|6/16|c.480+3G>A||||||,T|splice_region_variant&intron_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|4/14|c.480+3G>A||||||,T|splice_region_variant&intron_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|5/14|c.450+3G>A||||||,T|splice_region_variant&intron_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000446258|protein_coding|3/6|c.300+3G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000452543|protein_coding||c.*603G>A|||||83|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000418067|protein_coding||c.*650G>A|||||3436|WARNING_TRANSCRIPT_NO_STOP_CODON 22 41660751 . C G . . ANN=G|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|5/16|c.397G>C|p.Glu133Gln|701/3060|397/1764|133/587||,G|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|6/17|c.397G>C|p.Glu133Gln|1110/3469|397/1764|133/587||,G|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|4/15|c.397G>C|p.Glu133Gln|1867/4222|397/1764|133/587||,G|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|5/15|c.367G>C|p.Glu123Gln|400/1792|367/1599|123/532||,G|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000446258|protein_coding|3/7|c.217G>C|p.Glu73Gln|218/759|217/758|73/251||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000452543|protein_coding|5/5|c.397G>C|p.Glu133Gln|600/603|397/400|133/132||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|RANGAP1|ENSG00000100401|repeat:LRR_2|ENST00000356244|protein_coding|5/16|c.397G>C||||||,G|downstream_gene_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000418067|protein_coding||c.*650G>C|||||3350|WARNING_TRANSCRIPT_NO_STOP_CODON 22 41660879 . T C . . ANN=C|downstream_gene_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000418067|protein_coding||c.*650A>G|||||3222|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|4/15|c.301-32A>G||||||,C|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|5/16|c.301-32A>G||||||,C|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|3/14|c.301-32A>G||||||,C|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|4/14|c.271-32A>G||||||,C|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000446258|protein_coding|2/6|c.121-32A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000452543|protein_coding|4/4|c.301-32A>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 41664071 . G A . . ANN=A|downstream_gene_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000418067|protein_coding||c.*650C>T|||||30|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|4/15|c.300+30C>T||||||,A|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|5/16|c.300+30C>T||||||,A|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|3/14|c.300+30C>T||||||,A|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|4/14|c.270+30C>T||||||,A|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000446258|protein_coding|2/6|c.120+30C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000452543|protein_coding|4/4|c.300+30C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 41664085 . C G . . ANN=G|downstream_gene_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000418067|protein_coding||c.*650G>C|||||16|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|4/15|c.300+16G>C||||||,G|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|5/16|c.300+16G>C||||||,G|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|3/14|c.300+16G>C||||||,G|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|4/14|c.270+16G>C||||||,G|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000446258|protein_coding|2/6|c.120+16G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000452543|protein_coding|4/4|c.300+16G>C||||||WARNING_TRANSCRIPT_INCOMPLETE 22 41670623 . T C . . ANN=C|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|3/16|c.221A>G|p.Glu74Gly|525/3060|221/1764|74/587||,C|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|4/17|c.221A>G|p.Glu74Gly|934/3469|221/1764|74/587||,C|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|2/15|c.221A>G|p.Glu74Gly|1691/4222|221/1764|74/587||,C|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|3/15|c.191A>G|p.Glu64Gly|224/1792|191/1599|64/532||,C|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000446258|protein_coding|1/7|c.41A>G|p.Glu14Gly|42/759|41/758|14/251||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000452543|protein_coding|3/5|c.221A>G|p.Glu74Gly|424/603|221/400|74/132||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000418067|protein_coding|3/4|c.221A>G|p.Glu74Gly|571/650|221/300|74/99||WARNING_TRANSCRIPT_NO_STOP_CODON 22 41676968 . G C . . ANN=C|synonymous_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|2/16|c.81C>G|p.Gly27Gly|385/3060|81/1764|27/587||,C|synonymous_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|3/17|c.81C>G|p.Gly27Gly|794/3469|81/1764|27/587||,C|synonymous_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|1/15|c.81C>G|p.Gly27Gly|1551/4222|81/1764|27/587||,C|synonymous_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000452543|protein_coding|2/5|c.81C>G|p.Gly27Gly|284/603|81/400|27/132||WARNING_TRANSCRIPT_INCOMPLETE,C|synonymous_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000418067|protein_coding|2/4|c.81C>G|p.Gly27Gly|431/650|81/300|27/99||WARNING_TRANSCRIPT_NO_STOP_CODON,C|synonymous_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000422838|protein_coding|3/3|c.81C>G|p.Gly27Gly|915/946|81/112|27/36||WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding||c.-34C>G|||||195| 22 41676991 . C T . . ANN=T|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|2/16|c.58G>A|p.Gly20Arg|362/3060|58/1764|20/587||,T|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|3/17|c.58G>A|p.Gly20Arg|771/3469|58/1764|20/587||,T|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|1/15|c.58G>A|p.Gly20Arg|1528/4222|58/1764|20/587||,T|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000452543|protein_coding|2/5|c.58G>A|p.Gly20Arg|261/603|58/400|20/132||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000418067|protein_coding|2/4|c.58G>A|p.Gly20Arg|408/650|58/300|20/99||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000422838|protein_coding|3/3|c.58G>A|p.Gly20Arg|892/946|58/112|20/36||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding||c.-34G>A|||||218| 22 41677050 . T C . . ANN=C|5_prime_UTR_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|2/16|c.-2A>G|||||2|,C|5_prime_UTR_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|3/17|c.-2A>G|||||2|,C|5_prime_UTR_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|1/15|c.-2A>G|||||2|,C|5_prime_UTR_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000452543|protein_coding|2/5|c.-2A>G|||||2|WARNING_TRANSCRIPT_INCOMPLETE,C|5_prime_UTR_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000418067|protein_coding|2/4|c.-2A>G|||||2|WARNING_TRANSCRIPT_NO_STOP_CODON,C|5_prime_UTR_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000422838|protein_coding|3/3|c.-2A>G|||||2|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding||c.-34A>G|||||277| 22 41721539 . C T . . ANN=T|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|1/21|c.54-29C>T||||||,T|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|2/22|c.54-29C>T||||||,T|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000486331|retained_intron|2/6|n.118-29C>T|||||| 22 41721792 . A G . . ANN=G|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|3/22|c.155A>G|p.Tyr52Cys|155/5608|155/2934|52/977||,G|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|4/23|c.155A>G|p.Tyr52Cys|412/5909|155/2934|52/977||,G|sequence_feature|LOW|ZC3H7B|ENSG00000100403|repeat:TPR_1|ENST00000351589|protein_coding|3/22|c.155A>G||||||,G|non_coding_exon_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000486331|retained_intron|4/7|n.219A>G|||||| 22 41721853 . C T . . ANN=T|synonymous_variant|LOW|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|3/22|c.216C>T|p.Asp72Asp|216/5608|216/2934|72/977||,T|synonymous_variant|LOW|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|4/23|c.216C>T|p.Asp72Asp|473/5909|216/2934|72/977||,T|non_coding_exon_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000486331|retained_intron|4/7|n.280C>T|||||| 22 41721905 . G A . . ANN=A|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|3/22|c.268G>A|p.Ala90Thr|268/5608|268/2934|90/977||,A|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|4/23|c.268G>A|p.Ala90Thr|525/5909|268/2934|90/977||,A|sequence_feature|LOW|ZC3H7B|ENSG00000100403|repeat:TPR_2|ENST00000351589|protein_coding|3/22|c.268G>A||||||,A|sequence_feature|LOW|ZC3H7B|ENSG00000100403|repeat:TPR_2|ENST00000351589|protein_coding|4/22|c.268G>A||||||,A|non_coding_exon_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000486331|retained_intron|4/7|n.332G>A|||||| 22 41721949 . C G . . ANN=G|sequence_feature|LOW|ZC3H7B|ENSG00000100403|repeat:TPR_2|ENST00000351589|protein_coding|3/22|c.285+27C>G||||||,G|sequence_feature|LOW|ZC3H7B|ENSG00000100403|repeat:TPR_2|ENST00000351589|protein_coding|4/22|c.285+27C>G||||||,G|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|3/21|c.285+27C>G||||||,G|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|4/22|c.285+27C>G||||||,G|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000486331|retained_intron|4/6|n.349+27C>G|||||| 22 41723248 . G A . . ANN=A|synonymous_variant|LOW|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|4/22|c.324G>A|p.Ala108Ala|324/5608|324/2934|108/977||,A|synonymous_variant|LOW|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|5/23|c.324G>A|p.Ala108Ala|581/5909|324/2934|108/977||,A|sequence_feature|LOW|ZC3H7B|ENSG00000100403|repeat:TPR_2|ENST00000351589|protein_coding|3/22|c.324G>A||||||,A|sequence_feature|LOW|ZC3H7B|ENSG00000100403|repeat:TPR_2|ENST00000351589|protein_coding|4/22|c.324G>A||||||,A|non_coding_exon_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000486331|retained_intron|5/7|n.388G>A|||||| 22 41723315 . C T . . ANN=T|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|4/22|c.391C>T|p.Arg131Cys|391/5608|391/2934|131/977||,T|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|5/23|c.391C>T|p.Arg131Cys|648/5909|391/2934|131/977||,T|sequence_feature|LOW|ZC3H7B|ENSG00000100403|repeat:TPR_3|ENST00000351589|protein_coding|5/22|c.391C>T||||||,T|sequence_feature|LOW|ZC3H7B|ENSG00000100403|repeat:TPR_3|ENST00000351589|protein_coding|4/22|c.391C>T||||||,T|non_coding_exon_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000486331|retained_intron|5/7|n.455C>T|||||| 22 41723316 . G A . . ANN=A|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|4/22|c.392G>A|p.Arg131His|392/5608|392/2934|131/977||,A|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|5/23|c.392G>A|p.Arg131His|649/5909|392/2934|131/977||,A|sequence_feature|LOW|ZC3H7B|ENSG00000100403|repeat:TPR_3|ENST00000351589|protein_coding|5/22|c.392G>A||||||,A|sequence_feature|LOW|ZC3H7B|ENSG00000100403|repeat:TPR_3|ENST00000351589|protein_coding|4/22|c.392G>A||||||,A|non_coding_exon_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000486331|retained_intron|5/7|n.456G>A|||||| 22 41723393 . C T . . ANN=T|sequence_feature|LOW|ZC3H7B|ENSG00000100403|repeat:TPR_3|ENST00000351589|protein_coding|5/22|c.444+25C>T||||||,T|sequence_feature|LOW|ZC3H7B|ENSG00000100403|repeat:TPR_3|ENST00000351589|protein_coding|4/22|c.444+25C>T||||||,T|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|4/21|c.444+25C>T||||||,T|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|5/22|c.444+25C>T||||||,T|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000486331|retained_intron|5/6|n.508+25C>T|||||| 22 41726003 . C T . . ANN=T|sequence_feature|LOW|ZC3H7B|ENSG00000100403|repeat:TPR_3|ENST00000351589|protein_coding|5/22|c.445-24C>T||||||,T|sequence_feature|LOW|ZC3H7B|ENSG00000100403|repeat:TPR_3|ENST00000351589|protein_coding|4/22|c.445-24C>T||||||,T|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|4/21|c.445-24C>T||||||,T|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|5/22|c.445-24C>T||||||,T|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000486331|retained_intron|5/6|n.509-24C>T|||||| 22 41726004 . G A . . ANN=A|sequence_feature|LOW|ZC3H7B|ENSG00000100403|repeat:TPR_3|ENST00000351589|protein_coding|5/22|c.445-23G>A||||||,A|sequence_feature|LOW|ZC3H7B|ENSG00000100403|repeat:TPR_3|ENST00000351589|protein_coding|4/22|c.445-23G>A||||||,A|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|4/21|c.445-23G>A||||||,A|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|5/22|c.445-23G>A||||||,A|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000486331|retained_intron|5/6|n.509-23G>A|||||| 22 41726053 . G A . . ANN=A|synonymous_variant|LOW|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|5/22|c.471G>A|p.Gln157Gln|471/5608|471/2934|157/977||,A|synonymous_variant|LOW|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|6/23|c.471G>A|p.Gln157Gln|728/5909|471/2934|157/977||,A|non_coding_exon_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000486331|retained_intron|6/7|n.535G>A|||||| 22 41726079 . G A . . ANN=A|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|5/22|c.497G>A|p.Arg166Gln|497/5608|497/2934|166/977||,A|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|6/23|c.497G>A|p.Arg166Gln|754/5909|497/2934|166/977||,A|non_coding_exon_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000486331|retained_intron|6/7|n.561G>A|||||| 22 41726080 . A G . . ANN=G|synonymous_variant|LOW|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|5/22|c.498A>G|p.Arg166Arg|498/5608|498/2934|166/977||,G|synonymous_variant|LOW|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|6/23|c.498A>G|p.Arg166Arg|755/5909|498/2934|166/977||,G|non_coding_exon_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000486331|retained_intron|6/7|n.562A>G|||||| 22 41728205 . G A . . ANN=A|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|6/22|c.556G>A|p.Gly186Ser|556/5608|556/2934|186/977||,A|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|7/23|c.556G>A|p.Gly186Ser|813/5909|556/2934|186/977||,A|non_coding_exon_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000486331|retained_intron|7/7|n.620G>A|||||| 22 41728213 . G A . . ANN=A|synonymous_variant|LOW|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|6/22|c.564G>A|p.Ala188Ala|564/5608|564/2934|188/977||,A|synonymous_variant|LOW|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|7/23|c.564G>A|p.Ala188Ala|821/5909|564/2934|188/977||,A|non_coding_exon_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000486331|retained_intron|7/7|n.628G>A|||||| 22 41728239 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|6/21|c.582+8C>T||||||,T|splice_region_variant&intron_variant|LOW|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|7/22|c.582+8C>T||||||,T|non_coding_exon_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000486331|retained_intron|7/7|n.654C>T|||||| 22 41728242 . G T . . ANN=T|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|6/21|c.582+11G>T||||||,T|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|7/22|c.582+11G>T||||||,T|non_coding_exon_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000486331|retained_intron|7/7|n.657G>T|||||| 22 41728274 . T C . . ANN=C|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|6/21|c.582+43T>C||||||,C|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|7/22|c.582+43T>C||||||,C|non_coding_exon_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000486331|retained_intron|7/7|n.689T>C|||||| 22 41734292 . CGCCA C . . ANN=|downstream_gene_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000486331|retained_intron||n.*5262_*5262delGCCA|||||1446|,|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|6/21|c.583-24_583-21delGCCA||||||,|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|7/22|c.583-24_583-21delGCCA|||||| 22 41734296 . A T . . ANN=T|downstream_gene_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000486331|retained_intron||n.*5262A>T|||||1449|,T|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|6/21|c.583-21A>T||||||,T|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|7/22|c.583-21A>T|||||| 22 41734988 . G C . . ANN=C|downstream_gene_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000486331|retained_intron||n.*5262G>C|||||2141|,C|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|7/21|c.626-17G>C||||||,C|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|8/22|c.626-17G>C|||||| 22 41735050 . C T . . ANN=T|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|8/22|c.671C>T|p.Thr224Met|671/5608|671/2934|224/977||,T|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|9/23|c.671C>T|p.Thr224Met|928/5909|671/2934|224/977||,T|downstream_gene_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000486331|retained_intron||n.*5262C>T|||||2203| 22 41735075 . C T . . ANN=T|synonymous_variant|LOW|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|8/22|c.696C>T|p.His232His|696/5608|696/2934|232/977||,T|synonymous_variant|LOW|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|9/23|c.696C>T|p.His232His|953/5909|696/2934|232/977||,T|downstream_gene_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000486331|retained_intron||n.*5262C>T|||||2228| 22 41735108 . C T . . ANN=T|synonymous_variant|LOW|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|8/22|c.729C>T|p.Ser243Ser|729/5608|729/2934|243/977||,T|synonymous_variant|LOW|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|9/23|c.729C>T|p.Ser243Ser|986/5909|729/2934|243/977||,T|downstream_gene_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000486331|retained_intron||n.*5262C>T|||||2261| 22 41735958 . G A . . ANN=A|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|9/22|c.955G>A|p.Ala319Thr|955/5608|955/2934|319/977||,A|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|10/23|c.955G>A|p.Ala319Thr|1212/5909|955/2934|319/977||,A|downstream_gene_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000486331|retained_intron||n.*5262G>A|||||3111| 22 41735999 . C T . . ANN=T|synonymous_variant|LOW|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|9/22|c.996C>T|p.Ala332Ala|996/5608|996/2934|332/977||,T|synonymous_variant|LOW|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|10/23|c.996C>T|p.Ala332Ala|1253/5909|996/2934|332/977||,T|downstream_gene_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000486331|retained_intron||n.*5262C>T|||||3152| 22 41736090 . G A . . ANN=A|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|9/22|c.1087G>A|p.Asp363Asn|1087/5608|1087/2934|363/977||,A|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|10/23|c.1087G>A|p.Asp363Asn|1344/5909|1087/2934|363/977||,A|downstream_gene_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000486331|retained_intron||n.*5262G>A|||||3243| 22 41736138 . A C . . ANN=C|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|9/22|c.1135A>C|p.Met379Leu|1135/5608|1135/2934|379/977||,C|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|10/23|c.1135A>C|p.Met379Leu|1392/5909|1135/2934|379/977||,C|downstream_gene_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000486331|retained_intron||n.*5262A>C|||||3291| 22 41736188 . A C . . ANN=C|downstream_gene_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000486331|retained_intron||n.*5262A>C|||||3341|,C|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|9/21|c.1138+47A>C||||||,C|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|10/22|c.1138+47A>C|||||| 22 41737045 . C T . . ANN=T|downstream_gene_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000486331|retained_intron||n.*5262C>T|||||4198|,T|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|9/21|c.1139-47C>T||||||,T|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|10/22|c.1139-47C>T|||||| 22 41737126 . C T . . ANN=T|synonymous_variant|LOW|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|10/22|c.1173C>T|p.Ser391Ser|1173/5608|1173/2934|391/977||,T|synonymous_variant|LOW|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|11/23|c.1173C>T|p.Ser391Ser|1430/5909|1173/2934|391/977||,T|downstream_gene_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000486331|retained_intron||n.*5262C>T|||||4279| 22 41737160 . T C . . ANN=C|downstream_gene_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000486331|retained_intron||n.*5262T>C|||||4313|,C|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|10/21|c.1197+10T>C||||||,C|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|11/22|c.1197+10T>C|||||| 22 41738660 . C G . . ANN=G|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|11/21|c.1297+28C>G||||||,G|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|12/22|c.1297+28C>G|||||| 22 41738668 . A G . . ANN=G|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|11/21|c.1297+36A>G||||||,G|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|12/22|c.1297+36A>G|||||| 22 41739370 . T C . . ANN=C|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|11/21|c.1298-49T>C||||||,C|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|12/22|c.1298-49T>C|||||| 22 41739451 . G A . . ANN=A|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|12/22|c.1330G>A|p.Gly444Ser|1330/5608|1330/2934|444/977||,A|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|13/23|c.1330G>A|p.Gly444Ser|1587/5909|1330/2934|444/977|| 22 41739486 . C T . . ANN=T|synonymous_variant|LOW|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|12/22|c.1365C>T|p.Leu455Leu|1365/5608|1365/2934|455/977||,T|synonymous_variant|LOW|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|13/23|c.1365C>T|p.Leu455Leu|1622/5909|1365/2934|455/977|| 22 41739597 . G A . . ANN=A|sequence_feature|LOW|ZC3H7B|ENSG00000100403|zinc_finger_region:C3H1-type_1|ENST00000351589|protein_coding|13/22|c.1459+17G>A||||||,A|sequence_feature|LOW|ZC3H7B|ENSG00000100403|zinc_finger_region:C3H1-type_1|ENST00000351589|protein_coding|12/22|c.1459+17G>A||||||,A|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|12/21|c.1459+17G>A||||||,A|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|13/22|c.1459+17G>A|||||| 22 41739610 . C T . . ANN=T|sequence_feature|LOW|ZC3H7B|ENSG00000100403|zinc_finger_region:C3H1-type_1|ENST00000351589|protein_coding|13/22|c.1459+30C>T||||||,T|sequence_feature|LOW|ZC3H7B|ENSG00000100403|zinc_finger_region:C3H1-type_1|ENST00000351589|protein_coding|12/22|c.1459+30C>T||||||,T|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|12/21|c.1459+30C>T||||||,T|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|13/22|c.1459+30C>T|||||| 22 41739618 . G A . . ANN=A|sequence_feature|LOW|ZC3H7B|ENSG00000100403|zinc_finger_region:C3H1-type_1|ENST00000351589|protein_coding|13/22|c.1459+38G>A||||||,A|sequence_feature|LOW|ZC3H7B|ENSG00000100403|zinc_finger_region:C3H1-type_1|ENST00000351589|protein_coding|12/22|c.1459+38G>A||||||,A|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|12/21|c.1459+38G>A||||||,A|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|13/22|c.1459+38G>A|||||| 22 41741970 . C T . . ANN=T|sequence_feature|LOW|ZC3H7B|ENSG00000100403|zinc_finger_region:C3H1-type_1|ENST00000351589|protein_coding|13/22|c.1460-37C>T||||||,T|sequence_feature|LOW|ZC3H7B|ENSG00000100403|zinc_finger_region:C3H1-type_1|ENST00000351589|protein_coding|12/22|c.1460-37C>T||||||,T|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|12/21|c.1460-37C>T||||||,T|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|13/22|c.1460-37C>T|||||| 22 41742139 . G A . . ANN=A|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|13/22|c.1592G>A|p.Gly531Asp|1592/5608|1592/2934|531/977||,A|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|14/23|c.1592G>A|p.Gly531Asp|1849/5909|1592/2934|531/977|| 22 41742149 . C T . . ANN=T|synonymous_variant|LOW|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|13/22|c.1602C>T|p.Arg534Arg|1602/5608|1602/2934|534/977||,T|synonymous_variant|LOW|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|14/23|c.1602C>T|p.Arg534Arg|1859/5909|1602/2934|534/977|| 22 41742150 . G A . . ANN=A|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|13/22|c.1603G>A|p.Gly535Ser|1603/5608|1603/2934|535/977||,A|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|14/23|c.1603G>A|p.Gly535Ser|1860/5909|1603/2934|535/977|| 22 41742164 . C T . . ANN=T|synonymous_variant|LOW|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|13/22|c.1617C>T|p.Ile539Ile|1617/5608|1617/2934|539/977||,T|synonymous_variant|LOW|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|14/23|c.1617C>T|p.Ile539Ile|1874/5909|1617/2934|539/977|| 22 41742209 . C T . . ANN=T|synonymous_variant|LOW|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|13/22|c.1662C>T|p.Cys554Cys|1662/5608|1662/2934|554/977||,T|synonymous_variant|LOW|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|14/23|c.1662C>T|p.Cys554Cys|1919/5909|1662/2934|554/977|| 22 41742229 . C G . . ANN=G|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|13/21|c.1665+17C>G||||||,G|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|14/22|c.1665+17C>G|||||| 22 41742237 . C T . . ANN=T|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|13/21|c.1665+25C>T||||||,T|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|14/22|c.1665+25C>T|||||| 22 41742241 . A G . . ANN=G|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|13/21|c.1665+29A>G||||||,G|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|14/22|c.1665+29A>G|||||| 22 41744022 . C G . . ANN=G|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|13/21|c.1666-49C>G||||||,G|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|14/22|c.1666-49C>G|||||| 22 41744145 . T G . . ANN=G|synonymous_variant|LOW|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|14/22|c.1740T>G|p.Ala580Ala|1740/5608|1740/2934|580/977||,G|synonymous_variant|LOW|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|15/23|c.1740T>G|p.Ala580Ala|1997/5909|1740/2934|580/977|| 22 41745095 . C T . . ANN=T|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|14/21|c.1767-29C>T||||||,T|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|15/22|c.1767-29C>T|||||| 22 41745115 . GC G . . ANN=|splice_region_variant&intron_variant|LOW|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|14/21|c.1767-6delC||||||INFO_REALIGN_3_PRIME,|splice_region_variant&intron_variant|LOW|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|15/22|c.1767-6delC||||||INFO_REALIGN_3_PRIME 22 41745316 . G A . . ANN=A|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|15/21|c.1948+11G>A||||||,A|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|16/22|c.1948+11G>A|||||| 22 41745355 . A G . . ANN=G|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|15/21|c.1948+50A>G||||||,G|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|16/22|c.1948+50A>G|||||| 22 41747576 . G A . . ANN=A|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|16/22|c.1960G>A|p.Glu654Lys|1960/5608|1960/2934|654/977||,A|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|17/23|c.1960G>A|p.Glu654Lys|2217/5909|1960/2934|654/977|| 22 41751437 . G A . . ANN=A|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|16/21|c.2035-36G>A||||||,A|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|17/22|c.2035-36G>A|||||| 22 41751488 . C T . . ANN=T|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|17/22|c.2050C>T|p.His684Tyr|2050/5608|2050/2934|684/977||,T|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|18/23|c.2050C>T|p.His684Tyr|2307/5909|2050/2934|684/977|| 22 41751526 . A G . . ANN=G|synonymous_variant|LOW|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|17/22|c.2088A>G|p.Val696Val|2088/5608|2088/2934|696/977||,G|synonymous_variant|LOW|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|18/23|c.2088A>G|p.Val696Val|2345/5909|2088/2934|696/977|| 22 41751599 . C T . . ANN=T|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|17/22|c.2161C>T|p.Arg721Trp|2161/5608|2161/2934|721/977||,T|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|18/23|c.2161C>T|p.Arg721Trp|2418/5909|2161/2934|721/977|| 22 41751910 . G A . . ANN=A|sequence_feature|LOW|ZC3H7B|ENSG00000100403|zinc_finger_region:C3H1-type_3|ENST00000351589|protein_coding|19/22|c.2274+44G>A||||||,A|sequence_feature|LOW|ZC3H7B|ENSG00000100403|zinc_finger_region:C3H1-type_3|ENST00000351589|protein_coding|18/22|c.2274+44G>A||||||,A|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|18/21|c.2274+44G>A||||||,A|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|19/22|c.2274+44G>A|||||| 22 41752102 . G A . . ANN=A|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|19/21|c.2383+36G>A||||||,A|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|20/22|c.2383+36G>A|||||| 22 41752113 . A G . . ANN=G|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|19/21|c.2383+47A>G||||||,G|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|20/22|c.2383+47A>G|||||| 22 41752302 . TGGA T . . ANN=|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|19/21|c.2384-43_2384-41delGAG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|20/22|c.2384-43_2384-41delGAG||||||INFO_REALIGN_3_PRIME 22 41752493 . C T . . ANN=T|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|20/21|c.2517+13C>T||||||,T|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|21/22|c.2517+13C>T|||||| 22 41752505 . G A . . ANN=A|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|20/21|c.2517+25G>A||||||,A|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|21/22|c.2517+25G>A|||||| 22 41752513 . G A . . ANN=A|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|20/21|c.2517+33G>A||||||,A|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|21/22|c.2517+33G>A|||||| 22 41752645 . C G . . ANN=G|splice_region_variant&intron_variant|LOW|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|20/21|c.2518-4C>G||||||,G|splice_region_variant&intron_variant|LOW|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|21/22|c.2518-4C>G|||||| 22 41752747 . G A . . ANN=A|synonymous_variant|LOW|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|21/22|c.2616G>A|p.Thr872Thr|2616/5608|2616/2934|872/977||,A|synonymous_variant|LOW|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|22/23|c.2616G>A|p.Thr872Thr|2873/5909|2616/2934|872/977|| 22 41752804 . C T . . ANN=T|synonymous_variant|LOW|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|21/22|c.2673C>T|p.Leu891Leu|2673/5608|2673/2934|891/977||,T|synonymous_variant|LOW|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|22/23|c.2673C>T|p.Leu891Leu|2930/5909|2673/2934|891/977||,T|sequence_feature|LOW|ZC3H7B|ENSG00000100403|zinc_finger_region:C3H1-type_4|ENST00000351589|protein_coding|22/22|c.2673C>T||||||,T|sequence_feature|LOW|ZC3H7B|ENSG00000100403|zinc_finger_region:C3H1-type_4|ENST00000351589|protein_coding|21/22|c.2673C>T|||||| 22 41752838 . C T . . ANN=T|sequence_feature|LOW|ZC3H7B|ENSG00000100403|zinc_finger_region:C3H1-type_4|ENST00000351589|protein_coding|22/22|c.2681+26C>T||||||,T|sequence_feature|LOW|ZC3H7B|ENSG00000100403|zinc_finger_region:C3H1-type_4|ENST00000351589|protein_coding|21/22|c.2681+26C>T||||||,T|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|21/21|c.2681+26C>T||||||,T|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|22/22|c.2681+26C>T|||||| 22 41753135 . T A . . ANN=A|sequence_feature|LOW|ZC3H7B|ENSG00000100403|zinc_finger_region:C3H1-type_4|ENST00000351589|protein_coding|22/22|c.2682-46T>A||||||,A|sequence_feature|LOW|ZC3H7B|ENSG00000100403|zinc_finger_region:C3H1-type_4|ENST00000351589|protein_coding|21/22|c.2682-46T>A||||||,A|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|21/21|c.2682-46T>A||||||,A|intron_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|22/22|c.2682-46T>A|||||| 22 41753444 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|22/22|c.*11T>C|||||11|,C|3_prime_UTR_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|23/23|c.*11T>C|||||11| 22 41753466 . G T . . ANN=T|3_prime_UTR_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|22/22|c.*33G>T|||||33|,T|3_prime_UTR_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|23/23|c.*33G>T|||||33| 22 41778228 . C A . . ANN=A|upstream_gene_variant|MODIFIER|RNU6-495P|ENSG00000199865|transcript|ENST00000362995|snRNA||n.-1G>T|||||4941|,A|upstream_gene_variant|MODIFIER|TEF|ENSG00000167074|transcript|ENST00000413942|protein_coding||c.-3C>A|||||711|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|TEF|ENSG00000167074|transcript|ENST00000266304|protein_coding|1/3|c.157+23C>A||||||,A|intron_variant|MODIFIER|TEF|ENSG00000167074|transcript|ENST00000406644|protein_coding|1/3|c.68-5127C>A|||||| 22 41778236 . G T . . ANN=T|upstream_gene_variant|MODIFIER|RNU6-495P|ENSG00000199865|transcript|ENST00000362995|snRNA||n.-1C>A|||||4949|,T|upstream_gene_variant|MODIFIER|TEF|ENSG00000167074|transcript|ENST00000413942|protein_coding||c.-3G>T|||||703|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|TEF|ENSG00000167074|transcript|ENST00000266304|protein_coding|1/3|c.157+31G>T||||||,T|intron_variant|MODIFIER|TEF|ENSG00000167074|transcript|ENST00000406644|protein_coding|1/3|c.68-5119G>T|||||| 22 41778250 . T C . . ANN=C|upstream_gene_variant|MODIFIER|RNU6-495P|ENSG00000199865|transcript|ENST00000362995|snRNA||n.-1A>G|||||4963|,C|upstream_gene_variant|MODIFIER|TEF|ENSG00000167074|transcript|ENST00000413942|protein_coding||c.-3T>C|||||689|WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|TEF|ENSG00000167074|transcript|ENST00000266304|protein_coding|1/3|c.157+45T>C||||||,C|intron_variant|MODIFIER|TEF|ENSG00000167074|transcript|ENST00000406644|protein_coding|1/3|c.68-5105T>C|||||| 22 41783389 . C T . . ANN=T|synonymous_variant|LOW|TEF|ENSG00000167074|transcript|ENST00000266304|protein_coding|2/4|c.192C>T|p.Asp64Asp|308/4394|192/912|64/303||,T|synonymous_variant|LOW|TEF|ENSG00000167074|transcript|ENST00000406644|protein_coding|2/4|c.102C>T|p.Asp34Asp|302/4386|102/822|34/273||,T|synonymous_variant|LOW|TEF|ENSG00000167074|transcript|ENST00000413942|protein_coding|2/3|c.87C>T|p.Asp29Asp|89/551|87/549|29/182||WARNING_TRANSCRIPT_NO_START_CODON 22 41783530 . C T . . ANN=T|synonymous_variant|LOW|TEF|ENSG00000167074|transcript|ENST00000266304|protein_coding|2/4|c.333C>T|p.Pro111Pro|449/4394|333/912|111/303||,T|synonymous_variant|LOW|TEF|ENSG00000167074|transcript|ENST00000406644|protein_coding|2/4|c.243C>T|p.Pro81Pro|443/4386|243/822|81/273||,T|synonymous_variant|LOW|TEF|ENSG00000167074|transcript|ENST00000413942|protein_coding|2/3|c.228C>T|p.Pro76Pro|230/551|228/549|76/182||WARNING_TRANSCRIPT_NO_START_CODON 22 41783610 . C T . . ANN=T|missense_variant|MODERATE|TEF|ENSG00000167074|transcript|ENST00000266304|protein_coding|2/4|c.413C>T|p.Thr138Ile|529/4394|413/912|138/303||,T|missense_variant|MODERATE|TEF|ENSG00000167074|transcript|ENST00000406644|protein_coding|2/4|c.323C>T|p.Thr108Ile|523/4386|323/822|108/273||,T|missense_variant|MODERATE|TEF|ENSG00000167074|transcript|ENST00000413942|protein_coding|2/3|c.308C>T|p.Thr103Ile|310/551|308/549|103/182||WARNING_TRANSCRIPT_NO_START_CODON 22 41783659 . C T . . ANN=T|synonymous_variant|LOW|TEF|ENSG00000167074|transcript|ENST00000266304|protein_coding|2/4|c.462C>T|p.Thr154Thr|578/4394|462/912|154/303||,T|synonymous_variant|LOW|TEF|ENSG00000167074|transcript|ENST00000406644|protein_coding|2/4|c.372C>T|p.Thr124Thr|572/4386|372/822|124/273||,T|synonymous_variant|LOW|TEF|ENSG00000167074|transcript|ENST00000413942|protein_coding|2/3|c.357C>T|p.Thr119Thr|359/551|357/549|119/182||WARNING_TRANSCRIPT_NO_START_CODON 22 41790179 . G A . . ANN=A|synonymous_variant|LOW|TEF|ENSG00000167074|transcript|ENST00000266304|protein_coding|3/4|c.555G>A|p.Pro185Pro|671/4394|555/912|185/303||,A|synonymous_variant|LOW|TEF|ENSG00000167074|transcript|ENST00000406644|protein_coding|3/4|c.465G>A|p.Pro155Pro|665/4386|465/822|155/273||,A|synonymous_variant|LOW|TEF|ENSG00000167074|transcript|ENST00000413942|protein_coding|3/3|c.450G>A|p.Pro150Pro|452/551|450/549|150/182||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|TEF|ENSG00000167074|compositionally_biased_region:Pro-rich__proline/acidic_region__PAR__|ENST00000266304|protein_coding|3/4|c.555G>A||||||,A|sequence_feature|LOW|TEF|ENSG00000167074|compositionally_biased_region:Pro-rich__proline/acidic_region__PAR__|ENST00000406644|protein_coding|3/4|c.465G>A|||||| 22 41790308 . C T . . ANN=T|synonymous_variant|LOW|TEF|ENSG00000167074|transcript|ENST00000266304|protein_coding|3/4|c.684C>T|p.Pro228Pro|800/4394|684/912|228/303||,T|synonymous_variant|LOW|TEF|ENSG00000167074|transcript|ENST00000406644|protein_coding|3/4|c.594C>T|p.Pro198Pro|794/4386|594/822|198/273||,T|downstream_gene_variant|MODIFIER|TEF|ENSG00000167074|transcript|ENST00000413942|protein_coding||c.*551C>T|||||30|WARNING_TRANSCRIPT_NO_START_CODON 22 41790354 . C T . . ANN=T|downstream_gene_variant|MODIFIER|TEF|ENSG00000167074|transcript|ENST00000413942|protein_coding||c.*551C>T|||||76|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|TEF|ENSG00000167074|transcript|ENST00000266304|protein_coding|3/3|c.696+34C>T||||||,T|intron_variant|MODIFIER|TEF|ENSG00000167074|transcript|ENST00000406644|protein_coding|3/3|c.606+34C>T|||||| 22 41790359 . G A . . ANN=A|downstream_gene_variant|MODIFIER|TEF|ENSG00000167074|transcript|ENST00000413942|protein_coding||c.*551G>A|||||81|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|TEF|ENSG00000167074|transcript|ENST00000266304|protein_coding|3/3|c.696+39G>A||||||,A|intron_variant|MODIFIER|TEF|ENSG00000167074|transcript|ENST00000406644|protein_coding|3/3|c.606+39G>A|||||| 22 41791719 . G A . . ANN=A|downstream_gene_variant|MODIFIER|TEF|ENSG00000167074|transcript|ENST00000413942|protein_coding||c.*551G>A|||||1441|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|TEF|ENSG00000167074|transcript|ENST00000266304|protein_coding|3/3|c.697-30G>A||||||,A|intron_variant|MODIFIER|TEF|ENSG00000167074|transcript|ENST00000406644|protein_coding|3/3|c.607-30G>A|||||| 22 41791972 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|TEF|ENSG00000167074|transcript|ENST00000266304|protein_coding|4/4|c.*8C>T|||||8|,T|3_prime_UTR_variant|MODIFIER|TEF|ENSG00000167074|transcript|ENST00000406644|protein_coding|4/4|c.*8C>T|||||8|,T|downstream_gene_variant|MODIFIER|TEF|ENSG00000167074|transcript|ENST00000413942|protein_coding||c.*551C>T|||||1694|WARNING_TRANSCRIPT_NO_START_CODON 22 41791983 . GC G . . ANN=|3_prime_UTR_variant|MODIFIER|TEF|ENSG00000167074|transcript|ENST00000266304|protein_coding|4/4|c.*20delC|||||20|,|3_prime_UTR_variant|MODIFIER|TEF|ENSG00000167074|transcript|ENST00000406644|protein_coding|4/4|c.*20delC|||||20|,|downstream_gene_variant|MODIFIER|TEF|ENSG00000167074|transcript|ENST00000413942|protein_coding||c.*551delC|||||1706|WARNING_TRANSCRIPT_NO_START_CODON 22 41791985 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|TEF|ENSG00000167074|transcript|ENST00000266304|protein_coding|4/4|c.*21G>A|||||21|,A|3_prime_UTR_variant|MODIFIER|TEF|ENSG00000167074|transcript|ENST00000406644|protein_coding|4/4|c.*21G>A|||||21|,A|downstream_gene_variant|MODIFIER|TEF|ENSG00000167074|transcript|ENST00000413942|protein_coding||c.*551G>A|||||1707|WARNING_TRANSCRIPT_NO_START_CODON 22 41791990 . A G . . ANN=G|3_prime_UTR_variant|MODIFIER|TEF|ENSG00000167074|transcript|ENST00000266304|protein_coding|4/4|c.*26A>G|||||26|,G|3_prime_UTR_variant|MODIFIER|TEF|ENSG00000167074|transcript|ENST00000406644|protein_coding|4/4|c.*26A>G|||||26|,G|downstream_gene_variant|MODIFIER|TEF|ENSG00000167074|transcript|ENST00000413942|protein_coding||c.*551A>G|||||1712|WARNING_TRANSCRIPT_NO_START_CODON 22 41832484 . C T . . ANN=T|missense_variant|MODERATE|TOB2|ENSG00000183864|transcript|ENST00000327492|protein_coding|2/2|c.866G>A|p.Ser289Asn|1573/4561|866/1035|289/344||,T|downstream_gene_variant|MODIFIER|TOB2|ENSG00000183864|transcript|ENST00000434408|protein_coding||c.*777G>A|||||562|WARNING_TRANSCRIPT_INCOMPLETE 22 41832485 . T C . . ANN=C|missense_variant|MODERATE|TOB2|ENSG00000183864|transcript|ENST00000327492|protein_coding|2/2|c.865A>G|p.Ser289Gly|1572/4561|865/1035|289/344||,C|downstream_gene_variant|MODIFIER|TOB2|ENSG00000183864|transcript|ENST00000434408|protein_coding||c.*777A>G|||||561|WARNING_TRANSCRIPT_INCOMPLETE 22 41832498 . G C . . ANN=C|synonymous_variant|LOW|TOB2|ENSG00000183864|transcript|ENST00000327492|protein_coding|2/2|c.852C>G|p.Gly284Gly|1559/4561|852/1035|284/344||,C|downstream_gene_variant|MODIFIER|TOB2|ENSG00000183864|transcript|ENST00000434408|protein_coding||c.*777C>G|||||548|WARNING_TRANSCRIPT_INCOMPLETE 22 41832522 . A G . . ANN=G|synonymous_variant|LOW|TOB2|ENSG00000183864|transcript|ENST00000327492|protein_coding|2/2|c.828T>C|p.Asp276Asp|1535/4561|828/1035|276/344||,G|downstream_gene_variant|MODIFIER|TOB2|ENSG00000183864|transcript|ENST00000434408|protein_coding||c.*777T>C|||||524|WARNING_TRANSCRIPT_INCOMPLETE 22 41832561 . G A . . ANN=A|synonymous_variant|LOW|TOB2|ENSG00000183864|transcript|ENST00000327492|protein_coding|2/2|c.789C>T|p.Asn263Asn|1496/4561|789/1035|263/344||,A|downstream_gene_variant|MODIFIER|TOB2|ENSG00000183864|transcript|ENST00000434408|protein_coding||c.*777C>T|||||485|WARNING_TRANSCRIPT_INCOMPLETE 22 41832562 . T C . . ANN=C|missense_variant|MODERATE|TOB2|ENSG00000183864|transcript|ENST00000327492|protein_coding|2/2|c.788A>G|p.Asn263Ser|1495/4561|788/1035|263/344||,C|downstream_gene_variant|MODIFIER|TOB2|ENSG00000183864|transcript|ENST00000434408|protein_coding||c.*777A>G|||||484|WARNING_TRANSCRIPT_INCOMPLETE 22 41832698 . G A . . ANN=A|missense_variant|MODERATE|TOB2|ENSG00000183864|transcript|ENST00000327492|protein_coding|2/2|c.652C>T|p.Arg218Cys|1359/4561|652/1035|218/344||,A|downstream_gene_variant|MODIFIER|TOB2|ENSG00000183864|transcript|ENST00000434408|protein_coding||c.*777C>T|||||348|WARNING_TRANSCRIPT_INCOMPLETE 22 41832726 . C T . . ANN=T|synonymous_variant|LOW|TOB2|ENSG00000183864|transcript|ENST00000327492|protein_coding|2/2|c.624G>A|p.Ala208Ala|1331/4561|624/1035|208/344||,T|downstream_gene_variant|MODIFIER|TOB2|ENSG00000183864|transcript|ENST00000434408|protein_coding||c.*777G>A|||||320|WARNING_TRANSCRIPT_INCOMPLETE 22 41832816 . G A . . ANN=A|synonymous_variant|LOW|TOB2|ENSG00000183864|transcript|ENST00000327492|protein_coding|2/2|c.534C>T|p.Thr178Thr|1241/4561|534/1035|178/344||,A|downstream_gene_variant|MODIFIER|TOB2|ENSG00000183864|transcript|ENST00000434408|protein_coding||c.*777C>T|||||230|WARNING_TRANSCRIPT_INCOMPLETE 22 41832989 . C T . . ANN=T|missense_variant|MODERATE|TOB2|ENSG00000183864|transcript|ENST00000327492|protein_coding|2/2|c.361G>A|p.Gly121Ser|1068/4561|361/1035|121/344||,T|downstream_gene_variant|MODIFIER|TOB2|ENSG00000183864|transcript|ENST00000434408|protein_coding||c.*777G>A|||||57|WARNING_TRANSCRIPT_INCOMPLETE 22 41832990 . G A . . ANN=A|synonymous_variant|LOW|TOB2|ENSG00000183864|transcript|ENST00000327492|protein_coding|2/2|c.360C>T|p.Cys120Cys|1067/4561|360/1035|120/344||,A|downstream_gene_variant|MODIFIER|TOB2|ENSG00000183864|transcript|ENST00000434408|protein_coding||c.*777C>T|||||56|WARNING_TRANSCRIPT_INCOMPLETE 22 41833080 . C T . . ANN=T|synonymous_variant|LOW|TOB2|ENSG00000183864|transcript|ENST00000327492|protein_coding|2/2|c.270G>A|p.Leu90Leu|977/4561|270/1035|90/344||,T|synonymous_variant|LOW|TOB2|ENSG00000183864|transcript|ENST00000434408|protein_coding|2/2|c.270G>A|p.Leu90Leu|743/777|270/304|90/100||WARNING_TRANSCRIPT_INCOMPLETE 22 41833116 . C T . . ANN=T|synonymous_variant|LOW|TOB2|ENSG00000183864|transcript|ENST00000327492|protein_coding|2/2|c.234G>A|p.Ala78Ala|941/4561|234/1035|78/344||,T|synonymous_variant|LOW|TOB2|ENSG00000183864|transcript|ENST00000434408|protein_coding|2/2|c.234G>A|p.Ala78Ala|707/777|234/304|78/100||WARNING_TRANSCRIPT_INCOMPLETE 22 41833136 . C T . . ANN=T|missense_variant|MODERATE|TOB2|ENSG00000183864|transcript|ENST00000327492|protein_coding|2/2|c.214G>A|p.Ala72Thr|921/4561|214/1035|72/344||,T|missense_variant|MODERATE|TOB2|ENSG00000183864|transcript|ENST00000434408|protein_coding|2/2|c.214G>A|p.Ala72Thr|687/777|214/304|72/100||WARNING_TRANSCRIPT_INCOMPLETE 22 41833225 . C G . . ANN=G|missense_variant|MODERATE|TOB2|ENSG00000183864|transcript|ENST00000327492|protein_coding|2/2|c.125G>C|p.Gly42Ala|832/4561|125/1035|42/344||,G|missense_variant|MODERATE|TOB2|ENSG00000183864|transcript|ENST00000434408|protein_coding|2/2|c.125G>C|p.Gly42Ala|598/777|125/304|42/100||WARNING_TRANSCRIPT_INCOMPLETE 22 41856377 . G T . . ANN=T|3_prime_UTR_variant|MODIFIER|PHF5A|ENSG00000100410|transcript|ENST00000216252|protein_coding|4/4|c.*25C>A|||||25|,T|downstream_gene_variant|MODIFIER|PHF5A|ENSG00000100410|transcript|ENST00000491254|processed_transcript||n.*292C>A|||||59|,T|non_coding_exon_variant|MODIFIER|PHF5A|ENSG00000100410|transcript|ENST00000459687|retained_intron|4/4|n.434C>A|||||| 22 41856513 . T C . . ANN=C|intron_variant|MODIFIER|PHF5A|ENSG00000100410|transcript|ENST00000216252|protein_coding|3/3|c.244-22A>G||||||,C|intron_variant|MODIFIER|PHF5A|ENSG00000100410|transcript|ENST00000459687|retained_intron|3/3|n.320-22A>G||||||,C|intron_variant|MODIFIER|PHF5A|ENSG00000100410|transcript|ENST00000491254|processed_transcript|3/3|n.237-22A>G|||||| 22 41856527 . A G . . ANN=G|intron_variant|MODIFIER|PHF5A|ENSG00000100410|transcript|ENST00000216252|protein_coding|3/3|c.244-36T>C||||||,G|intron_variant|MODIFIER|PHF5A|ENSG00000100410|transcript|ENST00000459687|retained_intron|3/3|n.320-36T>C||||||,G|intron_variant|MODIFIER|PHF5A|ENSG00000100410|transcript|ENST00000491254|processed_transcript|3/3|n.237-36T>C|||||| 22 41863423 . A G . . ANN=G|upstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding||c.-18A>G|||||1711|,G|upstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding||c.-23A>G|||||1706|,G|upstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000471094|processed_transcript||n.-1A>G|||||1741|,G|intron_variant|MODIFIER|PHF5A|ENSG00000100410|transcript|ENST00000216252|protein_coding|3/3|c.243+29T>C||||||,G|intron_variant|MODIFIER|PHF5A|ENSG00000100410|transcript|ENST00000459687|retained_intron|3/3|n.319+29T>C||||||,G|intron_variant|MODIFIER|PHF5A|ENSG00000100410|transcript|ENST00000491254|processed_transcript|3/3|n.236+29T>C|||||| 22 41863427 . G A . . ANN=A|upstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding||c.-18G>A|||||1707|,A|upstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding||c.-23G>A|||||1702|,A|upstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000471094|processed_transcript||n.-1G>A|||||1737|,A|intron_variant|MODIFIER|PHF5A|ENSG00000100410|transcript|ENST00000216252|protein_coding|3/3|c.243+25C>T||||||,A|intron_variant|MODIFIER|PHF5A|ENSG00000100410|transcript|ENST00000459687|retained_intron|3/3|n.319+25C>T||||||,A|intron_variant|MODIFIER|PHF5A|ENSG00000100410|transcript|ENST00000491254|processed_transcript|3/3|n.236+25C>T|||||| 22 41864114 . T C . . ANN=C|upstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding||c.-18T>C|||||1020|,C|upstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding||c.-23T>C|||||1015|,C|upstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000471094|processed_transcript||n.-1T>C|||||1050|,C|intron_variant|MODIFIER|PHF5A|ENSG00000100410|transcript|ENST00000216252|protein_coding|2/3|c.76+14A>G||||||,C|intron_variant|MODIFIER|PHF5A|ENSG00000100410|transcript|ENST00000491254|processed_transcript|2/3|n.69+14A>G||||||,C|non_coding_exon_variant|MODIFIER|PHF5A|ENSG00000100410|transcript|ENST00000459687|retained_intron|2/4|n.62A>G|||||| 22 41864190 . A T . . ANN=T|upstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding||c.-18A>T|||||944|,T|upstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding||c.-23A>T|||||939|,T|upstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000471094|processed_transcript||n.-1A>T|||||974|,T|intron_variant|MODIFIER|PHF5A|ENSG00000100410|transcript|ENST00000216252|protein_coding|1/3|c.53-39T>A||||||,T|intron_variant|MODIFIER|PHF5A|ENSG00000100410|transcript|ENST00000459687|retained_intron|1/3|n.25-39T>A||||||,T|intron_variant|MODIFIER|PHF5A|ENSG00000100410|transcript|ENST00000491254|processed_transcript|1/3|n.46-39T>A|||||| 22 41864658 . A T . . ANN=T|5_prime_UTR_variant|MODIFIER|PHF5A|ENSG00000100410|transcript|ENST00000216252|protein_coding|1/4|c.-1T>A|||||1|,T|upstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding||c.-18A>T|||||476|,T|upstream_gene_variant|MODIFIER|PHF5A|ENSG00000100410|transcript|ENST00000459687|retained_intron||n.-1T>A|||||29|,T|upstream_gene_variant|MODIFIER|PHF5A|ENSG00000100410|transcript|ENST00000491254|processed_transcript||n.-1T>A|||||155|,T|upstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding||c.-23A>T|||||471|,T|upstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000471094|processed_transcript||n.-1A>T|||||506| 22 41864688 . T C . . ANN=C|5_prime_UTR_variant|MODIFIER|PHF5A|ENSG00000100410|transcript|ENST00000216252|protein_coding|1/4|c.-31A>G|||||31|,C|upstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding||c.-18T>C|||||446|,C|upstream_gene_variant|MODIFIER|PHF5A|ENSG00000100410|transcript|ENST00000459687|retained_intron||n.-1A>G|||||59|,C|upstream_gene_variant|MODIFIER|PHF5A|ENSG00000100410|transcript|ENST00000491254|processed_transcript||n.-1A>G|||||185|,C|upstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding||c.-23T>C|||||441|,C|upstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000471094|processed_transcript||n.-1T>C|||||476|,C|TF_binding_site_variant|MODIFIER|||Gabp|MA0062.2||||||||| 22 41864700 . G C . . ANN=C|5_prime_UTR_variant|MODIFIER|PHF5A|ENSG00000100410|transcript|ENST00000216252|protein_coding|1/4|c.-43C>G|||||43|,C|upstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding||c.-18G>C|||||434|,C|upstream_gene_variant|MODIFIER|PHF5A|ENSG00000100410|transcript|ENST00000459687|retained_intron||n.-1C>G|||||71|,C|upstream_gene_variant|MODIFIER|PHF5A|ENSG00000100410|transcript|ENST00000491254|processed_transcript||n.-1C>G|||||197|,C|upstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding||c.-23G>C|||||429|,C|upstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000471094|processed_transcript||n.-1G>C|||||464| 22 41865217 . G C . . ANN=C|TF_binding_site_variant|LOW|||SP1|MA0079.2|||||||||,C|sequence_feature|LOW|ACO2|ENSG00000100412|transit_peptide:Mitochondrion|ENST00000216254|protein_coding|2/18|c.36+31G>C||||||,C|sequence_feature|LOW|ACO2|ENSG00000100412|transit_peptide:Mitochondrion|ENST00000216254|protein_coding|1/18|c.36+31G>C||||||,C|upstream_gene_variant|MODIFIER|PHF5A|ENSG00000100410|transcript|ENST00000216252|protein_coding||c.-73C>G|||||488|,C|upstream_gene_variant|MODIFIER|PHF5A|ENSG00000100410|transcript|ENST00000459687|retained_intron||n.-1C>G|||||588|,C|upstream_gene_variant|MODIFIER|PHF5A|ENSG00000100410|transcript|ENST00000491254|processed_transcript||n.-1C>G|||||714|,C|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|1/17|c.36+31G>C||||||,C|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|1/17|c.36+31G>C||||||,C|non_coding_exon_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000471094|processed_transcript|1/3|n.54G>C|||||| 22 41895686 . C T . . ANN=T|sequence_feature|LOW|ACO2|ENSG00000100412|transit_peptide:Mitochondrion|ENST00000216254|protein_coding|2/18|c.37-44C>T||||||,T|sequence_feature|LOW|ACO2|ENSG00000100412|transit_peptide:Mitochondrion|ENST00000216254|protein_coding|1/18|c.37-44C>T||||||,T|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|1/17|c.37-44C>T||||||,T|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|1/17|c.37-44C>T||||||,T|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000471094|processed_transcript|1/2|n.350-8109C>T|||||| 22 41895777 . A G . . ANN=G|sequence_feature|MODERATE|ACO2|ENSG00000100412|amino_acid_modification:Pyrrolidone_carboxylic_acid|ENST00000216254|protein_coding|2/18|c.84A>G||||||,G|synonymous_variant|LOW|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|2/18|c.84A>G|p.Gln28Gln|101/2811|84/2418|28/805||,G|synonymous_variant|LOW|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|2/18|c.84A>G|p.Gln28Gln|106/2741|84/2343|28/780||,G|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000471094|processed_transcript|1/2|n.350-8018A>G|||||| 22 41895813 . C T . . ANN=T|synonymous_variant|LOW|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|2/18|c.120C>T|p.Asn40Asn|137/2811|120/2418|40/805||,T|synonymous_variant|LOW|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|2/18|c.120C>T|p.Asn40Asn|142/2741|120/2343|40/780||,T|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000471094|processed_transcript|1/2|n.350-7982C>T|||||| 22 41895908 . C T . . ANN=T|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|2/17|c.173+42C>T||||||,T|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|2/17|c.173+42C>T||||||,T|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000471094|processed_transcript|1/2|n.350-7887C>T|||||| 22 41903813 . A C . . ANN=C|synonymous_variant|LOW|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|3/18|c.192A>C|p.Thr64Thr|209/2811|192/2418|64/805||,C|synonymous_variant|LOW|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|3/18|c.192A>C|p.Thr64Thr|214/2741|192/2343|64/780||,C|upstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000482208|retained_intron||n.-1A>C|||||29|,C|upstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000478010|retained_intron||n.-1A>C|||||206|,C|non_coding_exon_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000471094|processed_transcript|2/3|n.368A>C|||||| 22 41903841 . C G . . ANN=G|missense_variant|MODERATE|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|3/18|c.220C>G|p.Leu74Val|237/2811|220/2418|74/805||,G|missense_variant|MODERATE|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|3/18|c.220C>G|p.Leu74Val|242/2741|220/2343|74/780||,G|upstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000482208|retained_intron||n.-1C>G|||||1|,G|upstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000478010|retained_intron||n.-1C>G|||||178|,G|non_coding_exon_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000471094|processed_transcript|2/3|n.396C>G|||||| 22 41903852 . C T . . ANN=T|synonymous_variant|LOW|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|3/18|c.231C>T|p.Pro77Pro|248/2811|231/2418|77/805||,T|synonymous_variant|LOW|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|3/18|c.231C>T|p.Pro77Pro|253/2741|231/2343|77/780||,T|upstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000478010|retained_intron||n.-1C>T|||||167|,T|non_coding_exon_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000471094|processed_transcript|2/3|n.407C>T||||||,T|non_coding_exon_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000482208|retained_intron|1/2|n.11C>T|||||| 22 41903960 . C T . . ANN=T|synonymous_variant|LOW|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|3/18|c.339C>T|p.Ser113Ser|356/2811|339/2418|113/805||,T|synonymous_variant|LOW|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|3/18|c.339C>T|p.Ser113Ser|361/2741|339/2343|113/780||,T|upstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000478010|retained_intron||n.-1C>T|||||59|,T|non_coding_exon_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000471094|processed_transcript|2/3|n.515C>T||||||,T|non_coding_exon_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000482208|retained_intron|1/2|n.119C>T|||||| 22 41904072 . T C . . ANN=C|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|3/17|c.432+19T>C||||||,C|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|3/17|c.432+19T>C||||||,C|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000471094|processed_transcript|2/2|n.608+19T>C||||||,C|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000482208|retained_intron|1/1|n.212+19T>C||||||,C|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000478010|retained_intron|1/3|n.35+19T>C|||||| 22 41907930 . T C . . ANN=C|synonymous_variant|LOW|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|4/18|c.483T>C|p.Tyr161Tyr|500/2811|483/2418|161/805||,C|synonymous_variant|LOW|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|4/18|c.483T>C|p.Tyr161Tyr|505/2741|483/2343|161/780||,C|upstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000481310|processed_transcript||n.-1T>C|||||3587|,C|upstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000466237|processed_transcript||n.-1T>C|||||3840|,C|non_coding_exon_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000471094|processed_transcript|3/3|n.659T>C||||||,C|non_coding_exon_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000482208|retained_intron|2/2|n.263T>C||||||,C|non_coding_exon_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000478010|retained_intron|2/4|n.86T>C|||||| 22 41907933 . C T . . ANN=T|synonymous_variant|LOW|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|4/18|c.486C>T|p.Gly162Gly|503/2811|486/2418|162/805||,T|synonymous_variant|LOW|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|4/18|c.486C>T|p.Gly162Gly|508/2741|486/2343|162/780||,T|upstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000481310|processed_transcript||n.-1C>T|||||3584|,T|upstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000466237|processed_transcript||n.-1C>T|||||3837|,T|non_coding_exon_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000471094|processed_transcript|3/3|n.662C>T||||||,T|non_coding_exon_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000482208|retained_intron|2/2|n.266C>T||||||,T|non_coding_exon_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000478010|retained_intron|2/4|n.89C>T|||||| 22 41911426 . A C . . ANN=C|missense_variant|MODERATE|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|5/18|c.571A>C|p.Thr191Pro|588/2811|571/2418|191/805||,C|missense_variant|MODERATE|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|5/18|c.571A>C|p.Thr191Pro|593/2741|571/2343|191/780||,C|upstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000481310|processed_transcript||n.-1A>C|||||91|,C|upstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000466237|processed_transcript||n.-1A>C|||||344|,C|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000471094|processed_transcript||n.*699A>C|||||3456|,C|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000482208|retained_intron||n.*624A>C|||||3135|,C|non_coding_exon_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000478010|retained_intron|3/4|n.174A>C|||||| 22 41911525 . C T . . ANN=T|synonymous_variant|LOW|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|5/18|c.670C>T|p.Leu224Leu|687/2811|670/2418|224/805||,T|synonymous_variant|LOW|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|5/18|c.670C>T|p.Leu224Leu|692/2741|670/2343|224/780||,T|upstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000466237|processed_transcript||n.-1C>T|||||245|,T|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000471094|processed_transcript||n.*699C>T|||||3555|,T|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000482208|retained_intron||n.*624C>T|||||3234|,T|non_coding_exon_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000478010|retained_intron|3/4|n.273C>T||||||,T|non_coding_exon_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000481310|processed_transcript|1/3|n.9C>T|||||| 22 41911570 . G C . . ANN=C|upstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000466237|processed_transcript||n.-1G>C|||||200|,C|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000471094|processed_transcript||n.*699G>C|||||3600|,C|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000482208|retained_intron||n.*624G>C|||||3279|,C|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|5/17|c.684+31G>C||||||,C|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|5/17|c.684+31G>C||||||,C|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000478010|retained_intron|3/3|n.287+31G>C||||||,C|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000481310|processed_transcript|1/2|n.23+31G>C|||||| 22 41911805 . G C . . ANN=C|missense_variant|MODERATE|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|6/18|c.719G>C|p.Gly240Ala|736/2811|719/2418|240/805||,C|missense_variant|MODERATE|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|6/18|c.719G>C|p.Gly240Ala|741/2741|719/2343|240/780||,C|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000471094|processed_transcript||n.*699G>C|||||3835|,C|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000482208|retained_intron||n.*624G>C|||||3514|,C|non_coding_exon_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000478010|retained_intron|4/4|n.322G>C||||||,C|non_coding_exon_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000481310|processed_transcript|2/3|n.58G>C||||||,C|non_coding_exon_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000466237|processed_transcript|1/5|n.36G>C|||||| 22 41911941 . G A . . ANN=A|synonymous_variant|LOW|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|6/18|c.855G>A|p.Ala285Ala|872/2811|855/2418|285/805||,A|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000471094|processed_transcript||n.*699G>A|||||3971|,A|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000482208|retained_intron||n.*624G>A|||||3650|,A|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|6/17|c.835+20G>A||||||,A|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000481310|processed_transcript|2/2|n.174+20G>A||||||,A|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000466237|processed_transcript|1/4|n.152+20G>A||||||,A|non_coding_exon_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000478010|retained_intron|4/4|n.458G>A|||||| 22 41913649 . G C . . ANN=C|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000478010|retained_intron||n.*644G>C|||||1522|,C|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000481310|processed_transcript||n.*330G>C|||||193|,C|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|7/17|c.1015+14G>C||||||,C|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|7/17|c.940+14G>C||||||,C|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000466237|processed_transcript|2/4|n.257+14G>C|||||| 22 41914453 . C A . . ANN=A|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000478010|retained_intron||n.*644C>A|||||2326|,A|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000481310|processed_transcript||n.*330C>A|||||997|,A|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|7/17|c.1016-32C>A||||||,A|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|7/17|c.941-32C>A||||||,A|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000466237|processed_transcript|2/4|n.258-32C>A|||||| 22 41914593 . C T . . ANN=T|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000478010|retained_intron||n.*644C>T|||||2466|,T|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000481310|processed_transcript||n.*330C>T|||||1137|,T|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|8/17|c.1107+17C>T||||||,T|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|8/17|c.1032+17C>T||||||,T|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000466237|processed_transcript|3/4|n.349+17C>T|||||| 22 41916140 . C T . . ANN=T|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000478010|retained_intron||n.*644C>T|||||4013|,T|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000481310|processed_transcript||n.*330C>T|||||2684|,T|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|8/17|c.1108-35C>T||||||,T|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|8/17|c.1033-35C>T||||||,T|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000466237|processed_transcript|3/4|n.350-35C>T|||||| 22 41919009 . C T . . ANN=T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding||c.*959G>A|||||2821|,T|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000466237|processed_transcript||n.*747C>T|||||1415|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding||c.*680G>A|||||2799|,T|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|10/17|c.1371+18C>T||||||,T|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|10/17|c.1296+18C>T|||||| 22 41919029 . C G . . ANN=G|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding||c.*959G>C|||||2801|,G|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000466237|processed_transcript||n.*747C>G|||||1435|,G|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding||c.*680G>C|||||2779|,G|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|10/17|c.1371+38C>G||||||,G|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|10/17|c.1296+38C>G|||||| 22 41919182 . C T . . ANN=T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding||c.*959G>A|||||2648|,T|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000466237|processed_transcript||n.*747C>T|||||1588|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding||c.*680G>A|||||2626|,T|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|10/17|c.1372-27C>T||||||,T|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|10/17|c.1297-27C>T|||||| 22 41919330 . A G . . ANN=G|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding||c.*959T>C|||||2500|,G|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000466237|processed_transcript||n.*747A>G|||||1736|,G|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding||c.*680T>C|||||2478|,G|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|11/17|c.1445+48A>G||||||,G|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|11/17|c.1370+48A>G|||||| 22 41919787 . G T . . ANN=T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding||c.*959C>A|||||2043|,T|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000466237|processed_transcript||n.*747G>T|||||2193|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding||c.*680C>A|||||2021|,T|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|11/17|c.1446-47G>T||||||,T|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|11/17|c.1371-47G>T|||||| 22 41919850 . G T . . ANN=T|missense_variant|MODERATE|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|12/18|c.1462G>T|p.Gly488Trp|1479/2811|1462/2418|488/805||,T|missense_variant|MODERATE|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|12/18|c.1387G>T|p.Gly463Trp|1409/2741|1387/2343|463/780||,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding||c.*959C>A|||||1980|,T|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000466237|processed_transcript||n.*747G>T|||||2256|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding||c.*680C>A|||||1958|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000337566|protein_coding||c.*889C>A|||||4996|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay||n.*726C>A|||||4997| 22 41919893 . C T . . ANN=T|missense_variant|MODERATE|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|12/18|c.1505C>T|p.Thr502Met|1522/2811|1505/2418|502/805||,T|missense_variant|MODERATE|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|12/18|c.1430C>T|p.Thr477Met|1452/2741|1430/2343|477/780||,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding||c.*959G>A|||||1937|,T|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000466237|processed_transcript||n.*747C>T|||||2299|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding||c.*680G>A|||||1915|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000337566|protein_coding||c.*889G>A|||||4953|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay||n.*726G>A|||||4954|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay||n.*809G>A|||||4976| 22 41919894 . G A . . ANN=A|synonymous_variant|LOW|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|12/18|c.1506G>A|p.Thr502Thr|1523/2811|1506/2418|502/805||,A|synonymous_variant|LOW|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|12/18|c.1431G>A|p.Thr477Thr|1453/2741|1431/2343|477/780||,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding||c.*959C>T|||||1936|,A|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000466237|processed_transcript||n.*747G>A|||||2300|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding||c.*680C>T|||||1914|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000337566|protein_coding||c.*889C>T|||||4952|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay||n.*726C>T|||||4953|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay||n.*809C>T|||||4975| 22 41919961 . T C . . ANN=C|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding||c.*959A>G|||||1869|,C|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000466237|processed_transcript||n.*747T>C|||||2367|,C|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding||c.*680A>G|||||1847|,C|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000337566|protein_coding||c.*889A>G|||||4885|,C|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay||n.*726A>G|||||4886|,C|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay||n.*809A>G|||||4908|,C|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|12/17|c.1557+16T>C||||||,C|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|12/17|c.1482+16T>C|||||| 22 41919978 . T C . . ANN=C|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding||c.*959A>G|||||1852|,C|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000466237|processed_transcript||n.*747T>C|||||2384|,C|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding||c.*680A>G|||||1830|,C|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000337566|protein_coding||c.*889A>G|||||4868|,C|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay||n.*726A>G|||||4869|,C|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay||n.*809A>G|||||4891|,C|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|12/17|c.1557+33T>C||||||,C|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|12/17|c.1482+33T>C|||||| 22 41920984 . C T . . ANN=T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding||c.*959G>A|||||846|,T|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000466237|processed_transcript||n.*747C>T|||||3390|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding||c.*680G>A|||||824|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000337566|protein_coding||c.*889G>A|||||3862|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay||n.*726G>A|||||3863|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay||n.*809G>A|||||3885|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000407461|protein_coding||c.*731G>A|||||4232|,T|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|13/17|c.1680+12C>T||||||,T|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|13/17|c.1605+12C>T|||||| 22 41920995 . T C . . ANN=C|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding||c.*959A>G|||||835|,C|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000466237|processed_transcript||n.*747T>C|||||3401|,C|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding||c.*680A>G|||||813|,C|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000337566|protein_coding||c.*889A>G|||||3851|,C|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay||n.*726A>G|||||3852|,C|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay||n.*809A>G|||||3874|,C|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000407461|protein_coding||c.*731A>G|||||4221|,C|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|13/17|c.1680+23T>C||||||,C|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|13/17|c.1605+23T>C|||||| 22 41921151 . G A . . ANN=A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding||c.*959C>T|||||679|,A|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000466237|processed_transcript||n.*747G>A|||||3557|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding||c.*680C>T|||||657|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000337566|protein_coding||c.*889C>T|||||3695|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay||n.*726C>T|||||3696|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay||n.*809C>T|||||3718|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000407461|protein_coding||c.*731C>T|||||4065|,A|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|13/17|c.1681-46G>A||||||,A|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|13/17|c.1606-46G>A|||||| 22 41921177 . A G . . ANN=G|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding||c.*959T>C|||||653|,G|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000466237|processed_transcript||n.*747A>G|||||3583|,G|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding||c.*680T>C|||||631|,G|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000337566|protein_coding||c.*889T>C|||||3669|,G|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay||n.*726T>C|||||3670|,G|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay||n.*809T>C|||||3692|,G|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000407461|protein_coding||c.*731T>C|||||4039|,G|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|13/17|c.1681-20A>G||||||,G|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|13/17|c.1606-20A>G|||||| 22 41921234 . C G . . ANN=G|missense_variant|MODERATE|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|14/18|c.1718C>G|p.Pro573Arg|1735/2811|1718/2418|573/805||,G|missense_variant|MODERATE|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|14/18|c.1643C>G|p.Pro548Arg|1665/2741|1643/2343|548/780||,G|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding||c.*959G>C|||||596|,G|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000466237|processed_transcript||n.*747C>G|||||3640|,G|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding||c.*680G>C|||||574|,G|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000337566|protein_coding||c.*889G>C|||||3612|,G|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay||n.*726G>C|||||3613|,G|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay||n.*809G>C|||||3635|,G|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000407461|protein_coding||c.*731G>C|||||3982| 22 41921247 . C T . . ANN=T|synonymous_variant|LOW|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|14/18|c.1731C>T|p.Ser577Ser|1748/2811|1731/2418|577/805||,T|synonymous_variant|LOW|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|14/18|c.1656C>T|p.Ser552Ser|1678/2741|1656/2343|552/780||,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding||c.*959G>A|||||583|,T|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000466237|processed_transcript||n.*747C>T|||||3653|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding||c.*680G>A|||||561|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000337566|protein_coding||c.*889G>A|||||3599|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay||n.*726G>A|||||3600|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay||n.*809G>A|||||3622|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000407461|protein_coding||c.*731G>A|||||3969| 22 41921369 . C T . . ANN=T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding||c.*959G>A|||||461|,T|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000466237|processed_transcript||n.*747C>T|||||3775|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding||c.*680G>A|||||439|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000337566|protein_coding||c.*889G>A|||||3477|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay||n.*726G>A|||||3478|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay||n.*809G>A|||||3500|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000407461|protein_coding||c.*731G>A|||||3847|,T|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|14/17|c.1836+17C>T||||||,T|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|14/17|c.1761+17C>T|||||| 22 41922216 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding|6/6|c.*3071G>A|||||3071|,T|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding|7/7|c.*3071G>A|||||3071|,T|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000466237|processed_transcript||n.*747C>T|||||4622|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000337566|protein_coding||c.*889G>A|||||2630|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay||n.*726G>A|||||2631|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay||n.*809G>A|||||2653|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000407461|protein_coding||c.*731G>A|||||3000|,T|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|14/17|c.1837-50C>T||||||,T|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|14/17|c.1762-50C>T|||||| 22 41922376 . T A . . ANN=A|synonymous_variant|LOW|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|15/18|c.1947T>A|p.Ile649Ile|1964/2811|1947/2418|649/805||,A|synonymous_variant|LOW|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|15/18|c.1872T>A|p.Ile624Ile|1894/2741|1872/2343|624/780||,A|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding|6/6|c.*2911A>T|||||2911|,A|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding|7/7|c.*2911A>T|||||2911|,A|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000466237|processed_transcript||n.*747T>A|||||4782|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000337566|protein_coding||c.*889A>T|||||2470|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay||n.*726A>T|||||2471|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay||n.*809A>T|||||2493|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000407461|protein_coding||c.*731A>T|||||2840| 22 41922488 . TG T . . ANN=|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding|6/6|c.*2798delC|||||2798|,|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding|7/7|c.*2798delC|||||2798|,|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000466237|processed_transcript||n.*747delG|||||4895|,|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000337566|protein_coding||c.*889delC|||||2357|,|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay||n.*726delC|||||2358|,|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay||n.*809delC|||||2380|,|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000407461|protein_coding||c.*731delC|||||2727|,|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|15/17|c.2028+33delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|15/17|c.1953+33delG||||||INFO_REALIGN_3_PRIME 22 41923260 . G C . . ANN=C|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding|6/6|c.*2027C>G|||||2027|,C|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding|7/7|c.*2027C>G|||||2027|,C|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000337566|protein_coding||c.*889C>G|||||1586|,C|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay||n.*726C>G|||||1587|,C|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay||n.*809C>G|||||1609|,C|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000407461|protein_coding||c.*731C>G|||||1956|,C|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000442616|nonsense_mediated_decay||n.*266C>G|||||4863|,C|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|15/17|c.2029-32G>C||||||,C|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|15/17|c.1954-32G>C|||||| 22 41923279 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding|6/6|c.*2008C>T|||||2008|,A|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding|7/7|c.*2008C>T|||||2008|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000337566|protein_coding||c.*889C>T|||||1567|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay||n.*726C>T|||||1568|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay||n.*809C>T|||||1590|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000407461|protein_coding||c.*731C>T|||||1937|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000442616|nonsense_mediated_decay||n.*266C>T|||||4844|,A|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|15/17|c.2029-13G>A||||||,A|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|15/17|c.1954-13G>A|||||| 22 41923280 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding|6/6|c.*2007G>A|||||2007|,T|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding|7/7|c.*2007G>A|||||2007|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000337566|protein_coding||c.*889G>A|||||1566|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay||n.*726G>A|||||1567|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay||n.*809G>A|||||1589|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000407461|protein_coding||c.*731G>A|||||1936|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000442616|nonsense_mediated_decay||n.*266G>A|||||4843|,T|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|15/17|c.2029-12C>T||||||,T|intron_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|15/17|c.1954-12C>T|||||| 22 41923318 . C T . . ANN=T|synonymous_variant|LOW|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|16/18|c.2055C>T|p.Ile685Ile|2072/2811|2055/2418|685/805||,T|synonymous_variant|LOW|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|16/18|c.1980C>T|p.Ile660Ile|2002/2741|1980/2343|660/780||,T|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding|6/6|c.*1969G>A|||||1969|,T|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding|7/7|c.*1969G>A|||||1969|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000337566|protein_coding||c.*889G>A|||||1528|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay||n.*726G>A|||||1529|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay||n.*809G>A|||||1551|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000407461|protein_coding||c.*731G>A|||||1898|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000442616|nonsense_mediated_decay||n.*266G>A|||||4805| 22 41923407 . G A . . ANN=A|missense_variant|MODERATE|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|16/18|c.2144G>A|p.Ser715Asn|2161/2811|2144/2418|715/805||,A|missense_variant|MODERATE|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|16/18|c.2069G>A|p.Ser690Asn|2091/2741|2069/2343|690/780||,A|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding|6/6|c.*1880C>T|||||1880|,A|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding|7/7|c.*1880C>T|||||1880|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000337566|protein_coding||c.*889C>T|||||1439|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay||n.*726C>T|||||1440|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay||n.*809C>T|||||1462|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000407461|protein_coding||c.*731C>T|||||1809|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000442616|nonsense_mediated_decay||n.*266C>T|||||4716| 22 41924483 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|18/18|c.2284C>T|p.Pro762Ser|2301/2811|2284/2418|762/805||,T|missense_variant&splice_region_variant|MODERATE|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|18/18|c.2209C>T|p.Pro737Ser|2231/2741|2209/2343|737/780||,T|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding|6/6|c.*804G>A|||||804|,T|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding|7/7|c.*804G>A|||||804|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000337566|protein_coding||c.*889G>A|||||363|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay||n.*726G>A|||||364|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay||n.*809G>A|||||386|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000407461|protein_coding||c.*731G>A|||||733|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000442616|nonsense_mediated_decay||n.*266G>A|||||3640|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000420561|processed_transcript||n.*517G>A|||||4146| 22 41924552 . G A . . ANN=A|missense_variant|MODERATE|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|18/18|c.2353G>A|p.Glu785Lys|2370/2811|2353/2418|785/805||,A|missense_variant|MODERATE|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|18/18|c.2278G>A|p.Glu760Lys|2300/2741|2278/2343|760/780||,A|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding|6/6|c.*735C>T|||||735|,A|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding|7/7|c.*735C>T|||||735|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000337566|protein_coding||c.*889C>T|||||294|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay||n.*726C>T|||||295|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay||n.*809C>T|||||317|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000407461|protein_coding||c.*731C>T|||||664|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000442616|nonsense_mediated_decay||n.*266C>T|||||3571|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000420561|processed_transcript||n.*517C>T|||||4077| 22 41924557 . G A . . ANN=A|synonymous_variant|LOW|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|18/18|c.2358G>A|p.Thr786Thr|2375/2811|2358/2418|786/805||,A|synonymous_variant|LOW|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|18/18|c.2283G>A|p.Thr761Thr|2305/2741|2283/2343|761/780||,A|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding|6/6|c.*730C>T|||||730|,A|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding|7/7|c.*730C>T|||||730|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000337566|protein_coding||c.*889C>T|||||289|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay||n.*726C>T|||||290|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay||n.*809C>T|||||312|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000407461|protein_coding||c.*731C>T|||||659|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000442616|nonsense_mediated_decay||n.*266C>T|||||3566|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000420561|processed_transcript||n.*517C>T|||||4072| 22 41924620 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|18/18|c.*3G>A|||||3|,A|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding|6/6|c.*667C>T|||||667|,A|3_prime_UTR_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|18/18|c.*3G>A|||||3|,A|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding|7/7|c.*667C>T|||||667|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000337566|protein_coding||c.*889C>T|||||226|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay||n.*726C>T|||||227|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay||n.*809C>T|||||249|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000407461|protein_coding||c.*731C>T|||||596|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000442616|nonsense_mediated_decay||n.*266C>T|||||3503|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000420561|processed_transcript||n.*517C>T|||||4009| 22 41924640 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|18/18|c.*23C>T|||||23|,T|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding|6/6|c.*647G>A|||||647|,T|3_prime_UTR_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|18/18|c.*23C>T|||||23|,T|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding|7/7|c.*647G>A|||||647|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000337566|protein_coding||c.*889G>A|||||206|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay||n.*726G>A|||||207|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay||n.*809G>A|||||229|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000407461|protein_coding||c.*731G>A|||||576|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000442616|nonsense_mediated_decay||n.*266G>A|||||3483|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000420561|processed_transcript||n.*517G>A|||||3989| 22 41925266 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding|6/6|c.*21C>T|||||21|,A|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding|7/7|c.*21C>T|||||21|,A|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000337566|protein_coding|5/5|c.*21C>T|||||21|,A|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay|6/6|n.*319C>T|||||2874|,A|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay|6/6|n.*392C>T|||||3448|,A|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000407461|protein_coding|7/7|c.*21C>T|||||21|,A|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding||c.*2435G>A|||||273|,A|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding||c.*2365G>A|||||273|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000442616|nonsense_mediated_decay||n.*266C>T|||||2857|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000420561|processed_transcript||n.*517C>T|||||3363|,A|non_coding_exon_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay|6/6|n.*319C>T||||||,A|non_coding_exon_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay|6/6|n.*392C>T|||||| 22 41925342 . T C . . ANN=C|splice_acceptor_variant&intron_variant|HIGH|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding|5/5|c.562-2A>G||||||,C|splice_acceptor_variant&intron_variant|HIGH|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding|6/6|c.562-2A>G||||||,C|splice_acceptor_variant&intron_variant|HIGH|POLR3H|ENSG00000100413|transcript|ENST00000337566|protein_coding|4/4|c.475-2A>G||||||,C|splice_acceptor_variant&intron_variant|HIGH|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay|5/5|n.*245-2A>G||||||,C|splice_acceptor_variant&intron_variant|HIGH|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay|5/5|n.*318-2A>G||||||,C|splice_acceptor_variant&intron_variant|HIGH|POLR3H|ENSG00000100413|transcript|ENST00000407461|protein_coding|6/6|c.562-2A>G||||||,C|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding||c.*2435T>C|||||349|,C|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding||c.*2365T>C|||||349|,C|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000442616|nonsense_mediated_decay||n.*266A>G|||||2781|,C|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000420561|processed_transcript||n.*517A>G|||||3287|;LOF=(POLR3H|ENSG00000100413|9|0.44) 22 41926645 . G A . . ANN=A|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding||c.*2435G>A|||||1652|,A|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding||c.*2365G>A|||||1652|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000442616|nonsense_mediated_decay||n.*266C>T|||||1478|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000420561|processed_transcript||n.*517C>T|||||1984|,A|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding|5/5|c.561+46C>T||||||,A|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding|6/6|c.561+46C>T||||||,A|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000337566|protein_coding|4/4|c.474+46C>T||||||,A|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay|5/5|n.*244+46C>T||||||,A|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay|5/5|n.*317+46C>T||||||,A|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000407461|protein_coding|6/6|c.561+46C>T|||||| 22 41926698 . G A . . ANN=A|missense_variant|MODERATE|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding|5/6|c.554C>T|p.Thr185Met|898/4416|554/615|185/204||,A|missense_variant|MODERATE|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding|6/7|c.554C>T|p.Thr185Met|619/4159|554/615|185/204||,A|missense_variant|MODERATE|POLR3H|ENSG00000100413|transcript|ENST00000337566|protein_coding|4/5|c.467C>T|p.Thr156Met|828/1330|467/528|156/175||,A|missense_variant|MODERATE|POLR3H|ENSG00000100413|transcript|ENST00000407461|protein_coding|6/7|c.554C>T|p.Thr185Met|670/802|554/615|185/204||,A|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay|5/6|n.*237C>T|||||1442|,A|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay|5/6|n.*310C>T|||||2016|,A|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding||c.*2435G>A|||||1705|,A|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding||c.*2365G>A|||||1705|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000442616|nonsense_mediated_decay||n.*266C>T|||||1425|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000420561|processed_transcript||n.*517C>T|||||1931|,A|non_coding_exon_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay|5/6|n.*237C>T||||||,A|non_coding_exon_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay|5/6|n.*310C>T|||||| 22 41926730 . A C . . ANN=C|missense_variant|MODERATE|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding|5/6|c.522T>G|p.Ser174Arg|866/4416|522/615|174/204||,C|missense_variant|MODERATE|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding|6/7|c.522T>G|p.Ser174Arg|587/4159|522/615|174/204||,C|missense_variant|MODERATE|POLR3H|ENSG00000100413|transcript|ENST00000337566|protein_coding|4/5|c.435T>G|p.Ser145Arg|796/1330|435/528|145/175||,C|missense_variant|MODERATE|POLR3H|ENSG00000100413|transcript|ENST00000407461|protein_coding|6/7|c.522T>G|p.Ser174Arg|638/802|522/615|174/204||,C|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay|5/6|n.*205T>G|||||1410|,C|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay|5/6|n.*278T>G|||||1984|,C|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding||c.*2435A>C|||||1737|,C|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding||c.*2365A>C|||||1737|,C|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000442616|nonsense_mediated_decay||n.*266T>G|||||1393|,C|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000420561|processed_transcript||n.*517T>G|||||1899|,C|non_coding_exon_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay|5/6|n.*205T>G||||||,C|non_coding_exon_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay|5/6|n.*278T>G|||||| 22 41926756 . T C . . ANN=C|missense_variant|MODERATE|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding|5/6|c.496A>G|p.Ser166Gly|840/4416|496/615|166/204||,C|missense_variant|MODERATE|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding|6/7|c.496A>G|p.Ser166Gly|561/4159|496/615|166/204||,C|missense_variant|MODERATE|POLR3H|ENSG00000100413|transcript|ENST00000337566|protein_coding|4/5|c.409A>G|p.Ser137Gly|770/1330|409/528|137/175||,C|missense_variant|MODERATE|POLR3H|ENSG00000100413|transcript|ENST00000407461|protein_coding|6/7|c.496A>G|p.Ser166Gly|612/802|496/615|166/204||,C|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay|5/6|n.*179A>G|||||1384|,C|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay|5/6|n.*252A>G|||||1958|,C|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding||c.*2435T>C|||||1763|,C|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding||c.*2365T>C|||||1763|,C|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000442616|nonsense_mediated_decay||n.*266A>G|||||1367|,C|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000420561|processed_transcript||n.*517A>G|||||1873|,C|non_coding_exon_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay|5/6|n.*179A>G||||||,C|non_coding_exon_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay|5/6|n.*252A>G|||||| 22 41926757 . G A . . ANN=A|synonymous_variant|LOW|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding|5/6|c.495C>T|p.Pro165Pro|839/4416|495/615|165/204||,A|synonymous_variant|LOW|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding|6/7|c.495C>T|p.Pro165Pro|560/4159|495/615|165/204||,A|synonymous_variant|LOW|POLR3H|ENSG00000100413|transcript|ENST00000337566|protein_coding|4/5|c.408C>T|p.Pro136Pro|769/1330|408/528|136/175||,A|synonymous_variant|LOW|POLR3H|ENSG00000100413|transcript|ENST00000407461|protein_coding|6/7|c.495C>T|p.Pro165Pro|611/802|495/615|165/204||,A|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay|5/6|n.*178C>T|||||1383|,A|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay|5/6|n.*251C>T|||||1957|,A|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding||c.*2435G>A|||||1764|,A|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding||c.*2365G>A|||||1764|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000442616|nonsense_mediated_decay||n.*266C>T|||||1366|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000420561|processed_transcript||n.*517C>T|||||1872|,A|non_coding_exon_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay|5/6|n.*178C>T||||||,A|non_coding_exon_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay|5/6|n.*251C>T|||||| 22 41926859 . G A . . ANN=A|synonymous_variant|LOW|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding|5/6|c.393C>T|p.Tyr131Tyr|737/4416|393/615|131/204||,A|synonymous_variant|LOW|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding|6/7|c.393C>T|p.Tyr131Tyr|458/4159|393/615|131/204||,A|synonymous_variant|LOW|POLR3H|ENSG00000100413|transcript|ENST00000337566|protein_coding|4/5|c.306C>T|p.Tyr102Tyr|667/1330|306/528|102/175||,A|synonymous_variant|LOW|POLR3H|ENSG00000100413|transcript|ENST00000407461|protein_coding|6/7|c.393C>T|p.Tyr131Tyr|509/802|393/615|131/204||,A|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay|5/6|n.*76C>T|||||1281|,A|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay|5/6|n.*149C>T|||||1855|,A|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding||c.*2435G>A|||||1866|,A|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding||c.*2365G>A|||||1866|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000442616|nonsense_mediated_decay||n.*266C>T|||||1264|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000420561|processed_transcript||n.*517C>T|||||1770|,A|non_coding_exon_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay|5/6|n.*76C>T||||||,A|non_coding_exon_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay|5/6|n.*149C>T|||||| 22 41926892 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding|5/6|c.360C>T|p.Phe120Phe|704/4416|360/615|120/204||,A|splice_region_variant&synonymous_variant|LOW|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding|6/7|c.360C>T|p.Phe120Phe|425/4159|360/615|120/204||,A|splice_region_variant&synonymous_variant|LOW|POLR3H|ENSG00000100413|transcript|ENST00000337566|protein_coding|4/5|c.273C>T|p.Phe91Phe|634/1330|273/528|91/175||,A|splice_region_variant&non_coding_exon_variant|LOW|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay|5/6|n.*43C>T||||||,A|splice_region_variant&non_coding_exon_variant|LOW|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay|5/6|n.*116C>T||||||,A|splice_region_variant&synonymous_variant|LOW|POLR3H|ENSG00000100413|transcript|ENST00000407461|protein_coding|6/7|c.360C>T|p.Phe120Phe|476/802|360/615|120/204||,A|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay|5/6|n.*43C>T|||||1248|,A|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay|5/6|n.*116C>T|||||1822|,A|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding||c.*2435G>A|||||1899|,A|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding||c.*2365G>A|||||1899|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000442616|nonsense_mediated_decay||n.*266C>T|||||1231|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000420561|processed_transcript||n.*517C>T|||||1737| 22 41926924 . G C . . ANN=C|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding||c.*2435G>C|||||1931|,C|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding||c.*2365G>C|||||1931|,C|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000442616|nonsense_mediated_decay||n.*266C>G|||||1199|,C|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000420561|processed_transcript||n.*517C>G|||||1705|,C|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding|4/5|c.360-32C>G||||||,C|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding|5/6|c.360-32C>G||||||,C|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000337566|protein_coding|3/4|c.273-32C>G||||||,C|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay|4/5|n.*43-32C>G||||||,C|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay|4/5|n.*116-32C>G||||||,C|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000407461|protein_coding|5/6|c.360-32C>G|||||| 22 41928058 . G C . . ANN=C|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding||c.*2435G>C|||||3065|,C|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding||c.*2365G>C|||||3065|,C|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000442616|nonsense_mediated_decay||n.*266C>G|||||65|,C|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000420561|processed_transcript||n.*517C>G|||||571|,C|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding|4/5|c.359+40C>G||||||,C|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding|5/6|c.359+40C>G||||||,C|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000337566|protein_coding|3/4|c.272+40C>G||||||,C|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay|4/5|n.*42+40C>G||||||,C|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay|4/5|n.*115+40C>G||||||,C|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000407461|protein_coding|5/6|c.359+40C>G|||||| 22 41928086 . C T . . ANN=T|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding||c.*2435C>T|||||3093|,T|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding||c.*2365C>T|||||3093|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000442616|nonsense_mediated_decay||n.*266G>A|||||37|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000420561|processed_transcript||n.*517G>A|||||543|,T|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding|4/5|c.359+12G>A||||||,T|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding|5/6|c.359+12G>A||||||,T|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000337566|protein_coding|3/4|c.272+12G>A||||||,T|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay|4/5|n.*42+12G>A||||||,T|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay|4/5|n.*115+12G>A||||||,T|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000407461|protein_coding|5/6|c.359+12G>A|||||| 22 41928145 . G A . . ANN=A|synonymous_variant|LOW|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding|4/6|c.312C>T|p.Phe104Phe|656/4416|312/615|104/204||,A|synonymous_variant|LOW|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding|5/7|c.312C>T|p.Phe104Phe|377/4159|312/615|104/204||,A|synonymous_variant|LOW|POLR3H|ENSG00000100413|transcript|ENST00000337566|protein_coding|3/5|c.225C>T|p.Phe75Phe|586/1330|225/528|75/175||,A|synonymous_variant|LOW|POLR3H|ENSG00000100413|transcript|ENST00000407461|protein_coding|5/7|c.312C>T|p.Phe104Phe|428/802|312/615|104/204||,A|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay|4/6|n.*68C>T|||||569|,A|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000442616|nonsense_mediated_decay|6/6|n.*265C>T|||||1542|,A|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding||c.*2435G>A|||||3152|,A|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding||c.*2365G>A|||||3152|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000420561|processed_transcript||n.*517C>T|||||484|,A|non_coding_exon_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay|4/6|n.367C>T||||||,A|non_coding_exon_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay|4/6|n.*68C>T||||||,A|non_coding_exon_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000442616|nonsense_mediated_decay|6/6|n.*265C>T|||||| 22 41928211 . G A . . ANN=A|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding||c.*2435G>A|||||3218|,A|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding||c.*2365G>A|||||3218|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000420561|processed_transcript||n.*517C>T|||||418|,A|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding|3/5|c.296-50C>T||||||,A|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding|4/6|c.296-50C>T||||||,A|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000337566|protein_coding|2/4|c.209-50C>T||||||,A|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay|3/5|n.351-50C>T||||||,A|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay|3/5|n.*52-50C>T||||||,A|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000407461|protein_coding|4/6|c.296-50C>T||||||,A|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000442616|nonsense_mediated_decay|5/5|n.*249-50C>T|||||| 22 41928740 . C T . . ANN=T|missense_variant|MODERATE|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding|3/6|c.218G>A|p.Arg73His|562/4416|218/615|73/204||,T|missense_variant|MODERATE|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding|4/7|c.218G>A|p.Arg73His|283/4159|218/615|73/204||,T|missense_variant|MODERATE|POLR3H|ENSG00000100413|transcript|ENST00000407461|protein_coding|4/7|c.218G>A|p.Arg73His|334/802|218/615|73/204||,T|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000442616|nonsense_mediated_decay|5/6|n.*171G>A|||||947|,T|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding||c.*2435C>T|||||3747|,T|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding||c.*2365C>T|||||3747|,T|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000337566|protein_coding|2/4|c.209-579G>A||||||,T|non_coding_exon_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay|3/6|n.218G>A||||||,T|non_coding_exon_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay|3/6|n.457G>A||||||,T|non_coding_exon_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000442616|nonsense_mediated_decay|5/6|n.*171G>A||||||,T|non_coding_exon_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000420561|processed_transcript|2/2|n.406G>A|||||| 22 41928785 . G A . . ANN=A|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding||c.*2435G>A|||||3792|,A|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding||c.*2365G>A|||||3792|,A|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding|2/5|c.209-36C>T||||||,A|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding|3/6|c.209-36C>T||||||,A|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000337566|protein_coding|2/4|c.209-624C>T||||||,A|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay|2/5|n.209-36C>T||||||,A|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay|2/5|n.448-36C>T||||||,A|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000407461|protein_coding|3/6|c.209-36C>T||||||,A|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000442616|nonsense_mediated_decay|4/5|n.*162-36C>T||||||,A|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000420561|processed_transcript|1/1|n.397-36C>T|||||| 22 41928797 . C T . . ANN=T|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding||c.*2435C>T|||||3804|,T|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding||c.*2365C>T|||||3804|,T|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding|2/5|c.209-48G>A||||||,T|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding|3/6|c.209-48G>A||||||,T|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000337566|protein_coding|2/4|c.209-636G>A||||||,T|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay|2/5|n.209-48G>A||||||,T|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay|2/5|n.448-48G>A||||||,T|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000407461|protein_coding|3/6|c.209-48G>A||||||,T|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000442616|nonsense_mediated_decay|4/5|n.*162-48G>A||||||,T|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000420561|processed_transcript|1/1|n.397-48G>A|||||| 22 41928798 . G A . . ANN=A|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding||c.*2435G>A|||||3805|,A|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding||c.*2365G>A|||||3805|,A|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding|2/5|c.209-49C>T||||||,A|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding|3/6|c.209-49C>T||||||,A|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000337566|protein_coding|2/4|c.209-637C>T||||||,A|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay|2/5|n.209-49C>T||||||,A|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay|2/5|n.448-49C>T||||||,A|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000407461|protein_coding|3/6|c.209-49C>T||||||,A|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000442616|nonsense_mediated_decay|4/5|n.*162-49C>T||||||,A|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000420561|processed_transcript|1/1|n.397-49C>T|||||| 22 41936710 . G A . . ANN=A|synonymous_variant|LOW|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding|2/6|c.201C>T|p.His67His|545/4416|201/615|67/204||,A|synonymous_variant|LOW|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding|3/7|c.201C>T|p.His67His|266/4159|201/615|67/204||,A|synonymous_variant|LOW|POLR3H|ENSG00000100413|transcript|ENST00000337566|protein_coding|2/5|c.201C>T|p.His67His|562/1330|201/528|67/175||,A|synonymous_variant|LOW|POLR3H|ENSG00000100413|transcript|ENST00000407461|protein_coding|3/7|c.201C>T|p.His67His|317/802|201/615|67/204||,A|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000420561|processed_transcript|1/1|n.396+3285C>T||||||,A|non_coding_exon_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay|2/6|n.201C>T||||||,A|non_coding_exon_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay|2/6|n.440C>T||||||,A|non_coding_exon_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000442616|nonsense_mediated_decay|3/6|n.201C>T||||||,A|non_coding_exon_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000483837|retained_intron|3/3|n.266C>T|||||| 22 41936720 . C G . . ANN=G|missense_variant|MODERATE|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding|2/6|c.191G>C|p.Gly64Ala|535/4416|191/615|64/204||,G|missense_variant|MODERATE|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding|3/7|c.191G>C|p.Gly64Ala|256/4159|191/615|64/204||,G|missense_variant|MODERATE|POLR3H|ENSG00000100413|transcript|ENST00000337566|protein_coding|2/5|c.191G>C|p.Gly64Ala|552/1330|191/528|64/175||,G|missense_variant|MODERATE|POLR3H|ENSG00000100413|transcript|ENST00000407461|protein_coding|3/7|c.191G>C|p.Gly64Ala|307/802|191/615|64/204||,G|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000420561|processed_transcript|1/1|n.396+3275G>C||||||,G|non_coding_exon_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay|2/6|n.191G>C||||||,G|non_coding_exon_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay|2/6|n.430G>C||||||,G|non_coding_exon_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000442616|nonsense_mediated_decay|3/6|n.191G>C||||||,G|non_coding_exon_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000483837|retained_intron|3/3|n.256G>C|||||| 22 41936799 . C A . . ANN=A|missense_variant&splice_region_variant|MODERATE|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding|2/6|c.112G>T|p.Val38Phe|456/4416|112/615|38/204||,A|missense_variant&splice_region_variant|MODERATE|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding|3/7|c.112G>T|p.Val38Phe|177/4159|112/615|38/204||,A|missense_variant&splice_region_variant|MODERATE|POLR3H|ENSG00000100413|transcript|ENST00000337566|protein_coding|2/5|c.112G>T|p.Val38Phe|473/1330|112/528|38/175||,A|missense_variant&splice_region_variant|MODERATE|POLR3H|ENSG00000100413|transcript|ENST00000407461|protein_coding|3/7|c.112G>T|p.Val38Phe|228/802|112/615|38/204||,A|splice_region_variant&non_coding_exon_variant|LOW|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay|2/6|n.112G>T||||||,A|splice_region_variant&non_coding_exon_variant|LOW|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay|2/6|n.351G>T||||||,A|splice_region_variant&non_coding_exon_variant|LOW|POLR3H|ENSG00000100413|transcript|ENST00000442616|nonsense_mediated_decay|3/6|n.112G>T||||||,A|splice_region_variant&non_coding_exon_variant|LOW|POLR3H|ENSG00000100413|transcript|ENST00000483837|retained_intron|3/3|n.177G>T||||||,A|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000420561|processed_transcript|1/1|n.396+3196G>T|||||| 22 41968168 . G A . . ANN=A|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000216259|protein_coding||c.*874C>T|||||4730|,A|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000463617|retained_intron||n.*2538C>T|||||4739|,A|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000482178|retained_intron||n.*2020C>T|||||4739|,A|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000472620|retained_intron||n.*1576C>T|||||4767|,A|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000485648|retained_intron||n.*1405C>T|||||4773|,A|intron_variant|MODIFIER|CSDC2|ENSG00000172346|transcript|ENST00000306149|protein_coding|2/3|c.176+23G>A||||||,A|intron_variant|MODIFIER|CSDC2|ENSG00000172346|transcript|ENST00000460790|protein_coding|1/2|c.125+23G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 41969683 . C G . . ANN=G|synonymous_variant|LOW|CSDC2|ENSG00000172346|transcript|ENST00000306149|protein_coding|3/4|c.201C>G|p.Pro67Pro|745/2777|201/462|67/153||,G|synonymous_variant|LOW|CSDC2|ENSG00000172346|transcript|ENST00000460790|protein_coding|2/3|c.150C>G|p.Pro50Pro|150/721|150/456|50/151||WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000216259|protein_coding||c.*874G>C|||||3215|,G|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000463617|retained_intron||n.*2538G>C|||||3224|,G|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000482178|retained_intron||n.*2020G>C|||||3224|,G|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000472620|retained_intron||n.*1576G>C|||||3252|,G|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000485648|retained_intron||n.*1405G>C|||||3258| 22 41969745 . A C . . ANN=C|missense_variant|MODERATE|CSDC2|ENSG00000172346|transcript|ENST00000306149|protein_coding|3/4|c.263A>C|p.Glu88Ala|807/2777|263/462|88/153||,C|missense_variant|MODERATE|CSDC2|ENSG00000172346|transcript|ENST00000460790|protein_coding|2/3|c.212A>C|p.Glu71Ala|212/721|212/456|71/151||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|CSDC2|ENSG00000172346|domain:CSD|ENST00000306149|protein_coding|3/4|c.263A>C||||||,C|sequence_feature|LOW|CSDC2|ENSG00000172346|domain:CSD|ENST00000306149|protein_coding|4/4|c.263A>C||||||,C|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000216259|protein_coding||c.*874T>G|||||3153|,C|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000463617|retained_intron||n.*2538T>G|||||3162|,C|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000482178|retained_intron||n.*2020T>G|||||3162|,C|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000472620|retained_intron||n.*1576T>G|||||3190|,C|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000485648|retained_intron||n.*1405T>G|||||3196| 22 41969823 . T G . . ANN=G|sequence_feature|LOW|CSDC2|ENSG00000172346|domain:CSD|ENST00000306149|protein_coding|3/4|c.299+42T>G||||||,G|sequence_feature|LOW|CSDC2|ENSG00000172346|domain:CSD|ENST00000306149|protein_coding|4/4|c.299+42T>G||||||,G|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000216259|protein_coding||c.*874A>C|||||3075|,G|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000463617|retained_intron||n.*2538A>C|||||3084|,G|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000482178|retained_intron||n.*2020A>C|||||3084|,G|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000472620|retained_intron||n.*1576A>C|||||3112|,G|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000485648|retained_intron||n.*1405A>C|||||3118|,G|intron_variant|MODIFIER|CSDC2|ENSG00000172346|transcript|ENST00000306149|protein_coding|3/3|c.299+42T>G||||||,G|intron_variant|MODIFIER|CSDC2|ENSG00000172346|transcript|ENST00000460790|protein_coding|2/2|c.248+42T>G||||||WARNING_TRANSCRIPT_NO_START_CODON 22 41969831 . A G . . ANN=G|sequence_feature|LOW|CSDC2|ENSG00000172346|domain:CSD|ENST00000306149|protein_coding|3/4|c.299+50A>G||||||,G|sequence_feature|LOW|CSDC2|ENSG00000172346|domain:CSD|ENST00000306149|protein_coding|4/4|c.299+50A>G||||||,G|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000216259|protein_coding||c.*874T>C|||||3067|,G|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000463617|retained_intron||n.*2538T>C|||||3076|,G|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000482178|retained_intron||n.*2020T>C|||||3076|,G|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000472620|retained_intron||n.*1576T>C|||||3104|,G|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000485648|retained_intron||n.*1405T>C|||||3110|,G|intron_variant|MODIFIER|CSDC2|ENSG00000172346|transcript|ENST00000306149|protein_coding|3/3|c.299+50A>G||||||,G|intron_variant|MODIFIER|CSDC2|ENSG00000172346|transcript|ENST00000460790|protein_coding|2/2|c.248+50A>G||||||WARNING_TRANSCRIPT_NO_START_CODON 22 41970731 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|CSDC2|ENSG00000172346|transcript|ENST00000306149|protein_coding|3/3|c.300-6C>T||||||,T|sequence_feature|LOW|CSDC2|ENSG00000172346|domain:CSD|ENST00000306149|protein_coding|3/4|c.300-6C>T||||||,T|sequence_feature|LOW|CSDC2|ENSG00000172346|domain:CSD|ENST00000306149|protein_coding|4/4|c.300-6C>T||||||,T|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000216259|protein_coding||c.*874G>A|||||2167|,T|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000463617|retained_intron||n.*2538G>A|||||2176|,T|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000482178|retained_intron||n.*2020G>A|||||2176|,T|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000472620|retained_intron||n.*1576G>A|||||2204|,T|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000485648|retained_intron||n.*1405G>A|||||2210|,T|intron_variant|MODIFIER|CSDC2|ENSG00000172346|transcript|ENST00000460790|protein_coding|2/2|c.248+950C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 41970752 . C T . . ANN=T|synonymous_variant|LOW|CSDC2|ENSG00000172346|transcript|ENST00000306149|protein_coding|4/4|c.315C>T|p.Tyr105Tyr|859/2777|315/462|105/153||,T|sequence_feature|LOW|CSDC2|ENSG00000172346|domain:CSD|ENST00000306149|protein_coding|3/4|c.315C>T||||||,T|sequence_feature|LOW|CSDC2|ENSG00000172346|domain:CSD|ENST00000306149|protein_coding|4/4|c.315C>T||||||,T|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000216259|protein_coding||c.*874G>A|||||2146|,T|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000463617|retained_intron||n.*2538G>A|||||2155|,T|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000482178|retained_intron||n.*2020G>A|||||2155|,T|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000472620|retained_intron||n.*1576G>A|||||2183|,T|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000485648|retained_intron||n.*1405G>A|||||2189|,T|intron_variant|MODIFIER|CSDC2|ENSG00000172346|transcript|ENST00000460790|protein_coding|2/2|c.248+971C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 41970770 . C T . . ANN=T|synonymous_variant|LOW|CSDC2|ENSG00000172346|transcript|ENST00000306149|protein_coding|4/4|c.333C>T|p.Asp111Asp|877/2777|333/462|111/153||,T|sequence_feature|LOW|CSDC2|ENSG00000172346|domain:CSD|ENST00000306149|protein_coding|3/4|c.333C>T||||||,T|sequence_feature|LOW|CSDC2|ENSG00000172346|domain:CSD|ENST00000306149|protein_coding|4/4|c.333C>T||||||,T|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000216259|protein_coding||c.*874G>A|||||2128|,T|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000463617|retained_intron||n.*2538G>A|||||2137|,T|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000482178|retained_intron||n.*2020G>A|||||2137|,T|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000472620|retained_intron||n.*1576G>A|||||2165|,T|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000485648|retained_intron||n.*1405G>A|||||2171|,T|intron_variant|MODIFIER|CSDC2|ENSG00000172346|transcript|ENST00000460790|protein_coding|2/2|c.248+989C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 41970872 . G A . . ANN=A|synonymous_variant|LOW|CSDC2|ENSG00000172346|transcript|ENST00000306149|protein_coding|4/4|c.435G>A|p.Thr145Thr|979/2777|435/462|145/153||,A|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000216259|protein_coding||c.*874C>T|||||2026|,A|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000463617|retained_intron||n.*2538C>T|||||2035|,A|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000482178|retained_intron||n.*2020C>T|||||2035|,A|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000472620|retained_intron||n.*1576C>T|||||2063|,A|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000485648|retained_intron||n.*1405C>T|||||2069|,A|intron_variant|MODIFIER|CSDC2|ENSG00000172346|transcript|ENST00000460790|protein_coding|2/2|c.248+1091G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 41970909 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|CSDC2|ENSG00000172346|transcript|ENST00000306149|protein_coding|4/4|c.*10T>C|||||10|,C|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000216259|protein_coding||c.*874A>G|||||1989|,C|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000463617|retained_intron||n.*2538A>G|||||1998|,C|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000482178|retained_intron||n.*2020A>G|||||1998|,C|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000472620|retained_intron||n.*1576A>G|||||2026|,C|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000485648|retained_intron||n.*1405A>G|||||2032|,C|intron_variant|MODIFIER|CSDC2|ENSG00000172346|transcript|ENST00000460790|protein_coding|2/2|c.248+1128T>C||||||WARNING_TRANSCRIPT_NO_START_CODON 22 41970939 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|CSDC2|ENSG00000172346|transcript|ENST00000306149|protein_coding|4/4|c.*40G>A|||||40|,A|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000216259|protein_coding||c.*874C>T|||||1959|,A|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000463617|retained_intron||n.*2538C>T|||||1968|,A|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000482178|retained_intron||n.*2020C>T|||||1968|,A|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000472620|retained_intron||n.*1576C>T|||||1996|,A|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000485648|retained_intron||n.*1405C>T|||||2002|,A|intron_variant|MODIFIER|CSDC2|ENSG00000172346|transcript|ENST00000460790|protein_coding|2/2|c.248+1158G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 41973290 . C T . . ANN=T|missense_variant|MODERATE|CSDC2|ENSG00000172346|transcript|ENST00000460790|protein_coding|3/3|c.266C>T|p.Ser89Leu|266/721|266/456|89/151||WARNING_TRANSCRIPT_NO_START_CODON,T|3_prime_UTR_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000216259|protein_coding|8/8|c.*32G>A|||||32|,T|downstream_gene_variant|MODIFIER|CSDC2|ENSG00000172346|transcript|ENST00000306149|protein_coding||c.*1006C>T|||||620|,T|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000463617|retained_intron|3/3|n.2155G>A||||||,T|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000482178|retained_intron|5/5|n.1637G>A||||||,T|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000472620|retained_intron|8/8|n.1221G>A||||||,T|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000485648|retained_intron|7/7|n.1056G>A|||||| 22 41973374 . G A . . ANN=A|missense_variant|MODERATE|PMM1|ENSG00000100417|transcript|ENST00000216259|protein_coding|8/8|c.737C>T|p.Thr246Met|822/1298|737/789|246/262||,A|missense_variant|MODERATE|CSDC2|ENSG00000172346|transcript|ENST00000460790|protein_coding|3/3|c.350G>A|p.Arg117His|350/721|350/456|117/151||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|PMM1|ENSG00000100417|helix|ENST00000216259|protein_coding|8/8|c.737C>T||||||,A|downstream_gene_variant|MODIFIER|CSDC2|ENSG00000172346|transcript|ENST00000306149|protein_coding||c.*1006G>A|||||704|,A|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000463617|retained_intron|3/3|n.2071C>T||||||,A|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000482178|retained_intron|5/5|n.1553C>T||||||,A|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000472620|retained_intron|8/8|n.1137C>T||||||,A|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000485648|retained_intron|7/7|n.972C>T|||||| 22 41973390 . C T . . ANN=T|missense_variant|MODERATE|PMM1|ENSG00000100417|transcript|ENST00000216259|protein_coding|8/8|c.721G>A|p.Val241Met|806/1298|721/789|241/262||,T|synonymous_variant|LOW|CSDC2|ENSG00000172346|transcript|ENST00000460790|protein_coding|3/3|c.366C>T|p.His122His|366/721|366/456|122/151||WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|CSDC2|ENSG00000172346|transcript|ENST00000306149|protein_coding||c.*1006C>T|||||720|,T|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000463617|retained_intron|3/3|n.2055G>A||||||,T|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000482178|retained_intron|5/5|n.1537G>A||||||,T|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000472620|retained_intron|8/8|n.1121G>A||||||,T|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000485648|retained_intron|7/7|n.956G>A|||||| 22 41973452 . C T . . ANN=T|missense_variant|MODERATE|CSDC2|ENSG00000172346|transcript|ENST00000460790|protein_coding|3/3|c.428C>T|p.Thr143Ile|428/721|428/456|143/151||WARNING_TRANSCRIPT_NO_START_CODON,T|splice_region_variant&intron_variant|LOW|PMM1|ENSG00000100417|transcript|ENST00000216259|protein_coding|7/7|c.667-8G>A||||||,T|splice_region_variant&intron_variant|LOW|PMM1|ENSG00000100417|transcript|ENST00000463617|retained_intron|2/2|n.2001-8G>A||||||,T|splice_region_variant&intron_variant|LOW|PMM1|ENSG00000100417|transcript|ENST00000482178|retained_intron|4/4|n.1483-8G>A||||||,T|splice_region_variant&intron_variant|LOW|PMM1|ENSG00000100417|transcript|ENST00000472620|retained_intron|7/7|n.1067-8G>A||||||,T|splice_region_variant&intron_variant|LOW|PMM1|ENSG00000100417|transcript|ENST00000485648|retained_intron|6/6|n.902-8G>A||||||,T|downstream_gene_variant|MODIFIER|CSDC2|ENSG00000172346|transcript|ENST00000306149|protein_coding||c.*1006C>T|||||782| 22 41973780 . G A . . ANN=A|downstream_gene_variant|MODIFIER|CSDC2|ENSG00000172346|transcript|ENST00000306149|protein_coding||c.*1006G>A|||||1110|,A|downstream_gene_variant|MODIFIER|CSDC2|ENSG00000172346|transcript|ENST00000460790|protein_coding||c.*456G>A|||||35|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000216259|protein_coding|7/7|c.666+32C>T||||||,A|intron_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000463617|retained_intron|2/2|n.2000+32C>T||||||,A|intron_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000482178|retained_intron|4/4|n.1482+32C>T||||||,A|intron_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000472620|retained_intron|7/7|n.1066+32C>T||||||,A|intron_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000485648|retained_intron|6/6|n.901+32C>T|||||| 22 41973824 . G A . . ANN=A|synonymous_variant|LOW|PMM1|ENSG00000100417|transcript|ENST00000216259|protein_coding|7/8|c.654C>T|p.Asn218Asn|739/1298|654/789|218/262||,A|sequence_feature|LOW|PMM1|ENSG00000100417|metal_ion-binding_site:Magnesium|ENST00000216259|protein_coding|7/8|c.654C>T||||||,A|sequence_feature|LOW|PMM1|ENSG00000100417|beta_strand|ENST00000216259|protein_coding|7/8|c.654C>T||||||,A|downstream_gene_variant|MODIFIER|CSDC2|ENSG00000172346|transcript|ENST00000306149|protein_coding||c.*1006G>A|||||1154|,A|downstream_gene_variant|MODIFIER|CSDC2|ENSG00000172346|transcript|ENST00000460790|protein_coding||c.*456G>A|||||79|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000463617|retained_intron|2/3|n.1988C>T||||||,A|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000482178|retained_intron|4/5|n.1470C>T||||||,A|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000472620|retained_intron|7/8|n.1054C>T||||||,A|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000485648|retained_intron|6/7|n.889C>T|||||| 22 41974805 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|PMM1|ENSG00000100417|transcript|ENST00000216259|protein_coding|6/7|c.550+5G>A||||||,T|splice_region_variant&intron_variant|LOW|PMM1|ENSG00000100417|transcript|ENST00000463617|retained_intron|1/2|n.1884+5G>A||||||,T|splice_region_variant&intron_variant|LOW|PMM1|ENSG00000100417|transcript|ENST00000482178|retained_intron|3/4|n.1366+5G>A||||||,T|splice_region_variant&intron_variant|LOW|PMM1|ENSG00000100417|transcript|ENST00000472620|retained_intron|6/7|n.950+5G>A||||||,T|splice_region_variant&intron_variant|LOW|PMM1|ENSG00000100417|transcript|ENST00000485648|retained_intron|5/6|n.785+5G>A||||||,T|downstream_gene_variant|MODIFIER|CSDC2|ENSG00000172346|transcript|ENST00000306149|protein_coding||c.*1006C>T|||||2135|,T|downstream_gene_variant|MODIFIER|CSDC2|ENSG00000172346|transcript|ENST00000460790|protein_coding||c.*456C>T|||||1060|WARNING_TRANSCRIPT_NO_START_CODON 22 41974904 . G A . . ANN=A|sequence_feature|LOW|PMM1|ENSG00000100417|helix|ENST00000216259|protein_coding|6/8|c.475-19C>T||||||,A|sequence_feature|LOW|PMM1|ENSG00000100417|helix|ENST00000216259|protein_coding|5/8|c.475-19C>T||||||,A|downstream_gene_variant|MODIFIER|CSDC2|ENSG00000172346|transcript|ENST00000306149|protein_coding||c.*1006G>A|||||2234|,A|downstream_gene_variant|MODIFIER|CSDC2|ENSG00000172346|transcript|ENST00000460790|protein_coding||c.*456G>A|||||1159|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000216259|protein_coding|5/7|c.475-19C>T||||||,A|intron_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000482178|retained_intron|2/4|n.1291-19C>T||||||,A|intron_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000472620|retained_intron|5/7|n.875-19C>T||||||,A|intron_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000485648|retained_intron|4/6|n.710-19C>T||||||,A|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000463617|retained_intron|1/3|n.1790C>T|||||| 22 41979929 . C T . . ANN=T|sequence_feature|LOW|PMM1|ENSG00000100417|helix|ENST00000216259|protein_coding|6/8|c.474+34G>A||||||,T|sequence_feature|LOW|PMM1|ENSG00000100417|helix|ENST00000216259|protein_coding|5/8|c.474+34G>A||||||,T|upstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000463617|retained_intron||n.-1G>A|||||3236|,T|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000466645|processed_transcript||n.*575G>A|||||58|,T|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000478337|retained_intron||n.*823G>A|||||81|,T|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000414636|nonsense_mediated_decay||n.*249G>A|||||95|,T|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000493389|retained_intron||n.*866G>A|||||2181|,T|intron_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000216259|protein_coding|5/7|c.474+34G>A||||||,T|intron_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000482178|retained_intron|2/4|n.1290+34G>A||||||,T|intron_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000472620|retained_intron|5/7|n.874+34G>A||||||,T|intron_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000485648|retained_intron|4/6|n.709+34G>A|||||| 22 41980043 . G A . . ANN=A|missense_variant|MODERATE|PMM1|ENSG00000100417|transcript|ENST00000216259|protein_coding|5/8|c.394C>T|p.Arg132Trp|479/1298|394/789|132/262||,A|sequence_feature|LOW|PMM1|ENSG00000100417|binding_site:Substrate|ENST00000216259|protein_coding|5/8|c.394C>T||||||,A|3_prime_UTR_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000414636|nonsense_mediated_decay|6/6|n.*299C>T|||||2147|,A|upstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000463617|retained_intron||n.-1C>T|||||3350|,A|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000493389|retained_intron||n.*866C>T|||||2067|,A|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000482178|retained_intron|2/5|n.1210C>T||||||,A|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000472620|retained_intron|5/8|n.794C>T||||||,A|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000485648|retained_intron|4/7|n.629C>T||||||,A|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000466645|processed_transcript|6/6|n.519C>T||||||,A|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000478337|retained_intron|3/3|n.790C>T||||||,A|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000414636|nonsense_mediated_decay|6/6|n.*299C>T|||||| 22 41980349 . G T . . ANN=T|missense_variant|MODERATE|PMM1|ENSG00000100417|transcript|ENST00000216259|protein_coding|4/8|c.310C>A|p.Leu104Met|395/1298|310/789|104/262||,T|sequence_feature|LOW|PMM1|ENSG00000100417|helix|ENST00000216259|protein_coding|4/8|c.310C>A||||||,T|3_prime_UTR_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000414636|nonsense_mediated_decay|5/6|n.*215C>A|||||1841|,T|upstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000463617|retained_intron||n.-1C>A|||||3656|,T|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000493389|retained_intron||n.*866C>A|||||1761|,T|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000482178|retained_intron|2/5|n.904C>A||||||,T|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000472620|retained_intron|5/8|n.488C>A||||||,T|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000485648|retained_intron|4/7|n.323C>A||||||,T|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000466645|processed_transcript|5/6|n.435C>A||||||,T|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000478337|retained_intron|3/3|n.484C>A||||||,T|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000414636|nonsense_mediated_decay|5/6|n.*215C>A|||||| 22 41980403 . C T . . ANN=T|upstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000463617|retained_intron||n.-1G>A|||||3710|,T|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000493389|retained_intron||n.*866G>A|||||1707|,T|intron_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000216259|protein_coding|3/7|c.283-27G>A||||||,T|intron_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000482178|retained_intron|1/4|n.877-27G>A||||||,T|intron_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000472620|retained_intron|4/7|n.461-27G>A||||||,T|intron_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000485648|retained_intron|3/6|n.296-27G>A||||||,T|intron_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000466645|processed_transcript|4/5|n.408-27G>A||||||,T|intron_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000414636|nonsense_mediated_decay|4/5|n.*188-27G>A||||||,T|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000478337|retained_intron|3/3|n.430G>A|||||| 22 41980567 . C T . . ANN=T|synonymous_variant|LOW|PMM1|ENSG00000100417|transcript|ENST00000216259|protein_coding|3/8|c.246G>A|p.Thr82Thr|331/1298|246/789|82/262||,T|3_prime_UTR_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000414636|nonsense_mediated_decay|4/6|n.*151G>A|||||1623|,T|upstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000463617|retained_intron||n.-1G>A|||||3874|,T|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000493389|retained_intron||n.*866G>A|||||1543|,T|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000482178|retained_intron|1/5|n.840G>A||||||,T|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000472620|retained_intron|4/8|n.424G>A||||||,T|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000485648|retained_intron|3/7|n.259G>A||||||,T|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000466645|processed_transcript|4/6|n.371G>A||||||,T|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000478337|retained_intron|3/3|n.266G>A||||||,T|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000414636|nonsense_mediated_decay|4/6|n.*151G>A|||||| 22 41982107 . C T . . ANN=T|missense_variant|MODERATE|PMM1|ENSG00000100417|transcript|ENST00000216259|protein_coding|2/8|c.178G>A|p.Ala60Thr|263/1298|178/789|60/262||,T|sequence_feature|LOW|PMM1|ENSG00000100417|helix|ENST00000216259|protein_coding|2/8|c.178G>A||||||,T|3_prime_UTR_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000414636|nonsense_mediated_decay|3/6|n.*83G>A|||||83|,T|upstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000482178|retained_intron||n.-1G>A|||||701|,T|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000493389|retained_intron||n.*866G>A|||||3|,T|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000472620|retained_intron|3/8|n.356G>A||||||,T|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000485648|retained_intron|2/7|n.191G>A||||||,T|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000466645|processed_transcript|3/6|n.303G>A||||||,T|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000478337|retained_intron|2/3|n.198G>A||||||,T|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000414636|nonsense_mediated_decay|3/6|n.*83G>A|||||| 22 41982136 . A G . . ANN=G|missense_variant|MODERATE|PMM1|ENSG00000100417|transcript|ENST00000216259|protein_coding|2/8|c.149T>C|p.Val50Ala|234/1298|149/789|50/262||,G|sequence_feature|LOW|PMM1|ENSG00000100417|beta_strand|ENST00000216259|protein_coding|2/8|c.149T>C||||||,G|3_prime_UTR_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000414636|nonsense_mediated_decay|3/6|n.*54T>C|||||54|,G|upstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000482178|retained_intron||n.-1T>C|||||730|,G|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000472620|retained_intron|3/8|n.327T>C||||||,G|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000485648|retained_intron|2/7|n.162T>C||||||,G|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000466645|processed_transcript|3/6|n.274T>C||||||,G|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000478337|retained_intron|2/3|n.169T>C||||||,G|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000414636|nonsense_mediated_decay|3/6|n.*54T>C||||||,G|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000493389|retained_intron|2/2|n.840T>C|||||| 22 41982207 . G T . . ANN=T|upstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000482178|retained_intron||n.-1C>A|||||801|,T|intron_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000216259|protein_coding|1/7|c.88-10C>A||||||,T|intron_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000472620|retained_intron|2/7|n.266-10C>A||||||,T|intron_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000485648|retained_intron|1/6|n.101-10C>A||||||,T|intron_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000466645|processed_transcript|2/5|n.213-10C>A||||||,T|intron_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000478337|retained_intron|1/2|n.108-10C>A||||||,T|intron_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000414636|nonsense_mediated_decay|2/5|n.200-10C>A||||||,T|intron_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000493389|retained_intron|1/1|n.779-10C>A|||||| 22 41985797 . C A . . ANN=A|missense_variant|MODERATE|PMM1|ENSG00000100417|transcript|ENST00000216259|protein_coding|1/8|c.13G>T|p.Ala5Ser|98/1298|13/789|5/262||,A|upstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000482178|retained_intron||n.-1G>T|||||4391|,A|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000472620|retained_intron|1/8|n.79G>T||||||,A|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000485648|retained_intron|1/7|n.26G>T||||||,A|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000466645|processed_transcript|1/6|n.4G>T||||||,A|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000478337|retained_intron|1/3|n.33G>T||||||,A|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000414636|nonsense_mediated_decay|1/6|n.13G>T||||||,A|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000493389|retained_intron|1/2|n.37G>T|||||| 22 41985801 . G A . . ANN=A|synonymous_variant|LOW|PMM1|ENSG00000100417|transcript|ENST00000216259|protein_coding|1/8|c.9C>T|p.Val3Val|94/1298|9/789|3/262||,A|upstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000482178|retained_intron||n.-1C>T|||||4395|,A|upstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000466645|processed_transcript||n.-1C>T|||||1|,A|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000472620|retained_intron|1/8|n.75C>T||||||,A|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000485648|retained_intron|1/7|n.22C>T||||||,A|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000478337|retained_intron|1/3|n.29C>T||||||,A|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000414636|nonsense_mediated_decay|1/6|n.9C>T||||||,A|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000493389|retained_intron|1/2|n.33C>T|||||| 22 41997072 . G T . . ANN=T|3_prime_UTR_variant|MODIFIER|DESI1|ENSG00000100418|transcript|ENST00000263256|protein_coding|6/6|c.*29C>A|||||29|,T|downstream_gene_variant|MODIFIER|DESI1|ENSG00000100418|transcript|ENST00000463886|processed_transcript||n.*1088C>A|||||933|,T|downstream_gene_variant|MODIFIER|DESI1|ENSG00000100418|transcript|ENST00000482612|retained_intron||n.*451C>A|||||1907|,T|non_coding_exon_variant|MODIFIER|DESI1|ENSG00000100418|transcript|ENST00000468151|processed_transcript|2/2|n.223C>A|||||| 22 41997217 . GA G . . ANN=|sequence_feature|LOW|DESI1|ENSG00000100418|domain:PPPDE_peptidase|ENST00000263256|protein_coding|1/6|c.414-24delT||||||,|sequence_feature|LOW|DESI1|ENSG00000100418|domain:PPPDE_peptidase|ENST00000263256|protein_coding|4/6|c.414-24delT||||||,|sequence_feature|LOW|DESI1|ENSG00000100418|domain:PPPDE_peptidase|ENST00000263256|protein_coding|5/6|c.414-24delT||||||,|sequence_feature|LOW|DESI1|ENSG00000100418|domain:PPPDE_peptidase|ENST00000263256|protein_coding|3/6|c.414-24delT||||||,|sequence_feature|LOW|DESI1|ENSG00000100418|domain:PPPDE_peptidase|ENST00000263256|protein_coding|2/6|c.414-24delT||||||,|sequence_feature|LOW|DESI1|ENSG00000100418|domain:PPPDE_peptidase|ENST00000263256|protein_coding|6/6|c.414-24delT||||||,|downstream_gene_variant|MODIFIER|DESI1|ENSG00000100418|transcript|ENST00000463886|processed_transcript||n.*1088delT|||||787|,|downstream_gene_variant|MODIFIER|DESI1|ENSG00000100418|transcript|ENST00000482612|retained_intron||n.*451delT|||||1761|,|intron_variant|MODIFIER|DESI1|ENSG00000100418|transcript|ENST00000263256|protein_coding|5/5|c.414-24delT||||||,|intron_variant|MODIFIER|DESI1|ENSG00000100418|transcript|ENST00000468151|processed_transcript|1/1|n.101-24delT|||||| 22 41999432 . G A . . ANN=A|sequence_feature|LOW|DESI1|ENSG00000100418|domain:PPPDE_peptidase|ENST00000263256|protein_coding|1/6|c.291-47C>T||||||,A|sequence_feature|LOW|DESI1|ENSG00000100418|domain:PPPDE_peptidase|ENST00000263256|protein_coding|4/6|c.291-47C>T||||||,A|sequence_feature|LOW|DESI1|ENSG00000100418|domain:PPPDE_peptidase|ENST00000263256|protein_coding|5/6|c.291-47C>T||||||,A|sequence_feature|LOW|DESI1|ENSG00000100418|domain:PPPDE_peptidase|ENST00000263256|protein_coding|3/6|c.291-47C>T||||||,A|sequence_feature|LOW|DESI1|ENSG00000100418|domain:PPPDE_peptidase|ENST00000263256|protein_coding|2/6|c.291-47C>T||||||,A|sequence_feature|LOW|DESI1|ENSG00000100418|domain:PPPDE_peptidase|ENST00000263256|protein_coding|6/6|c.291-47C>T||||||,A|upstream_gene_variant|MODIFIER|DESI1|ENSG00000100418|transcript|ENST00000468151|processed_transcript||n.-1C>T|||||905|,A|intron_variant|MODIFIER|DESI1|ENSG00000100418|transcript|ENST00000263256|protein_coding|4/5|c.291-47C>T||||||,A|intron_variant|MODIFIER|DESI1|ENSG00000100418|transcript|ENST00000463886|processed_transcript|1/2|n.183-47C>T||||||,A|intron_variant|MODIFIER|DESI1|ENSG00000100418|transcript|ENST00000482612|retained_intron|1/1|n.45-47C>T|||||| 22 42000072 . G A . . ANN=A|missense_variant|MODERATE|DESI1|ENSG00000100418|transcript|ENST00000263256|protein_coding|4/6|c.266C>T|p.Ser89Phe|523/3833|266/507|89/168||,A|sequence_feature|LOW|DESI1|ENSG00000100418|domain:PPPDE_peptidase|ENST00000263256|protein_coding|1/6|c.266C>T||||||,A|sequence_feature|LOW|DESI1|ENSG00000100418|domain:PPPDE_peptidase|ENST00000263256|protein_coding|4/6|c.266C>T||||||,A|sequence_feature|LOW|DESI1|ENSG00000100418|domain:PPPDE_peptidase|ENST00000263256|protein_coding|5/6|c.266C>T||||||,A|sequence_feature|LOW|DESI1|ENSG00000100418|domain:PPPDE_peptidase|ENST00000263256|protein_coding|3/6|c.266C>T||||||,A|sequence_feature|LOW|DESI1|ENSG00000100418|domain:PPPDE_peptidase|ENST00000263256|protein_coding|2/6|c.266C>T||||||,A|sequence_feature|LOW|DESI1|ENSG00000100418|domain:PPPDE_peptidase|ENST00000263256|protein_coding|6/6|c.266C>T||||||,A|sequence_feature|LOW|DESI1|ENSG00000100418|helix|ENST00000263256|protein_coding|4/6|c.266C>T||||||,A|upstream_gene_variant|MODIFIER|DESI1|ENSG00000100418|transcript|ENST00000468151|processed_transcript||n.-1C>T|||||1545|,A|non_coding_exon_variant|MODIFIER|DESI1|ENSG00000100418|transcript|ENST00000463886|processed_transcript|1/3|n.158C>T||||||,A|non_coding_exon_variant|MODIFIER|DESI1|ENSG00000100418|transcript|ENST00000482612|retained_intron|1/2|n.20C>T|||||| 22 42003243 . A G . . ANN=G|sequence_feature|LOW|DESI1|ENSG00000100418|domain:PPPDE_peptidase|ENST00000263256|protein_coding|1/6|c.180+23T>C||||||,G|sequence_feature|LOW|DESI1|ENSG00000100418|domain:PPPDE_peptidase|ENST00000263256|protein_coding|4/6|c.180+23T>C||||||,G|sequence_feature|LOW|DESI1|ENSG00000100418|domain:PPPDE_peptidase|ENST00000263256|protein_coding|5/6|c.180+23T>C||||||,G|sequence_feature|LOW|DESI1|ENSG00000100418|domain:PPPDE_peptidase|ENST00000263256|protein_coding|3/6|c.180+23T>C||||||,G|sequence_feature|LOW|DESI1|ENSG00000100418|domain:PPPDE_peptidase|ENST00000263256|protein_coding|2/6|c.180+23T>C||||||,G|sequence_feature|LOW|DESI1|ENSG00000100418|domain:PPPDE_peptidase|ENST00000263256|protein_coding|6/6|c.180+23T>C||||||,G|upstream_gene_variant|MODIFIER|DESI1|ENSG00000100418|transcript|ENST00000468151|processed_transcript||n.-1T>C|||||4716|,G|upstream_gene_variant|MODIFIER|DESI1|ENSG00000100418|transcript|ENST00000463886|processed_transcript||n.-1T>C|||||3014|,G|upstream_gene_variant|MODIFIER|DESI1|ENSG00000100418|transcript|ENST00000482612|retained_intron||n.-1T>C|||||3152|,G|intron_variant|MODIFIER|DESI1|ENSG00000100418|transcript|ENST00000263256|protein_coding|3/5|c.180+23T>C|||||| 22 42003362 . G A . . ANN=A|sequence_feature|LOW|DESI1|ENSG00000100418|domain:PPPDE_peptidase|ENST00000263256|protein_coding|1/6|c.111-27C>T||||||,A|sequence_feature|LOW|DESI1|ENSG00000100418|domain:PPPDE_peptidase|ENST00000263256|protein_coding|4/6|c.111-27C>T||||||,A|sequence_feature|LOW|DESI1|ENSG00000100418|domain:PPPDE_peptidase|ENST00000263256|protein_coding|5/6|c.111-27C>T||||||,A|sequence_feature|LOW|DESI1|ENSG00000100418|domain:PPPDE_peptidase|ENST00000263256|protein_coding|3/6|c.111-27C>T||||||,A|sequence_feature|LOW|DESI1|ENSG00000100418|domain:PPPDE_peptidase|ENST00000263256|protein_coding|2/6|c.111-27C>T||||||,A|sequence_feature|LOW|DESI1|ENSG00000100418|domain:PPPDE_peptidase|ENST00000263256|protein_coding|6/6|c.111-27C>T||||||,A|sequence_feature|LOW|DESI1|ENSG00000100418|beta_strand|ENST00000263256|protein_coding|3/6|c.111-27C>T||||||,A|sequence_feature|LOW|DESI1|ENSG00000100418|beta_strand|ENST00000263256|protein_coding|2/6|c.111-27C>T||||||,A|upstream_gene_variant|MODIFIER|DESI1|ENSG00000100418|transcript|ENST00000468151|processed_transcript||n.-1C>T|||||4835|,A|upstream_gene_variant|MODIFIER|DESI1|ENSG00000100418|transcript|ENST00000463886|processed_transcript||n.-1C>T|||||3133|,A|upstream_gene_variant|MODIFIER|DESI1|ENSG00000100418|transcript|ENST00000482612|retained_intron||n.-1C>T|||||3271|,A|intron_variant|MODIFIER|DESI1|ENSG00000100418|transcript|ENST00000263256|protein_coding|2/5|c.111-27C>T|||||| 22 42003373 . T C . . ANN=C|sequence_feature|LOW|DESI1|ENSG00000100418|domain:PPPDE_peptidase|ENST00000263256|protein_coding|1/6|c.111-38A>G||||||,C|sequence_feature|LOW|DESI1|ENSG00000100418|domain:PPPDE_peptidase|ENST00000263256|protein_coding|4/6|c.111-38A>G||||||,C|sequence_feature|LOW|DESI1|ENSG00000100418|domain:PPPDE_peptidase|ENST00000263256|protein_coding|5/6|c.111-38A>G||||||,C|sequence_feature|LOW|DESI1|ENSG00000100418|domain:PPPDE_peptidase|ENST00000263256|protein_coding|3/6|c.111-38A>G||||||,C|sequence_feature|LOW|DESI1|ENSG00000100418|domain:PPPDE_peptidase|ENST00000263256|protein_coding|2/6|c.111-38A>G||||||,C|sequence_feature|LOW|DESI1|ENSG00000100418|domain:PPPDE_peptidase|ENST00000263256|protein_coding|6/6|c.111-38A>G||||||,C|sequence_feature|LOW|DESI1|ENSG00000100418|beta_strand|ENST00000263256|protein_coding|3/6|c.111-38A>G||||||,C|sequence_feature|LOW|DESI1|ENSG00000100418|beta_strand|ENST00000263256|protein_coding|2/6|c.111-38A>G||||||,C|upstream_gene_variant|MODIFIER|DESI1|ENSG00000100418|transcript|ENST00000468151|processed_transcript||n.-1A>G|||||4846|,C|upstream_gene_variant|MODIFIER|DESI1|ENSG00000100418|transcript|ENST00000463886|processed_transcript||n.-1A>G|||||3144|,C|upstream_gene_variant|MODIFIER|DESI1|ENSG00000100418|transcript|ENST00000482612|retained_intron||n.-1A>G|||||3282|,C|intron_variant|MODIFIER|DESI1|ENSG00000100418|transcript|ENST00000263256|protein_coding|2/5|c.111-38A>G|||||| 22 42003820 . A G . . ANN=G|sequence_feature|LOW|DESI1|ENSG00000100418|domain:PPPDE_peptidase|ENST00000263256|protein_coding|1/6|c.110+24T>C||||||,G|sequence_feature|LOW|DESI1|ENSG00000100418|domain:PPPDE_peptidase|ENST00000263256|protein_coding|4/6|c.110+24T>C||||||,G|sequence_feature|LOW|DESI1|ENSG00000100418|domain:PPPDE_peptidase|ENST00000263256|protein_coding|5/6|c.110+24T>C||||||,G|sequence_feature|LOW|DESI1|ENSG00000100418|domain:PPPDE_peptidase|ENST00000263256|protein_coding|3/6|c.110+24T>C||||||,G|sequence_feature|LOW|DESI1|ENSG00000100418|domain:PPPDE_peptidase|ENST00000263256|protein_coding|2/6|c.110+24T>C||||||,G|sequence_feature|LOW|DESI1|ENSG00000100418|domain:PPPDE_peptidase|ENST00000263256|protein_coding|6/6|c.110+24T>C||||||,G|sequence_feature|LOW|DESI1|ENSG00000100418|beta_strand|ENST00000263256|protein_coding|3/6|c.110+24T>C||||||,G|sequence_feature|LOW|DESI1|ENSG00000100418|beta_strand|ENST00000263256|protein_coding|2/6|c.110+24T>C||||||,G|upstream_gene_variant|MODIFIER|DESI1|ENSG00000100418|transcript|ENST00000463886|processed_transcript||n.-1T>C|||||3591|,G|upstream_gene_variant|MODIFIER|DESI1|ENSG00000100418|transcript|ENST00000482612|retained_intron||n.-1T>C|||||3729|,G|intron_variant|MODIFIER|DESI1|ENSG00000100418|transcript|ENST00000263256|protein_coding|2/5|c.110+24T>C|||||| 22 42016808 . G A . . ANN=A|synonymous_variant|LOW|DESI1|ENSG00000100418|transcript|ENST00000263256|protein_coding|1/6|c.36C>T|p.Tyr12Tyr|293/3833|36/507|12/168||,A|sequence_feature|LOW|DESI1|ENSG00000100418|domain:PPPDE_peptidase|ENST00000263256|protein_coding|1/6|c.36C>T||||||,A|sequence_feature|LOW|DESI1|ENSG00000100418|domain:PPPDE_peptidase|ENST00000263256|protein_coding|4/6|c.36C>T||||||,A|sequence_feature|LOW|DESI1|ENSG00000100418|domain:PPPDE_peptidase|ENST00000263256|protein_coding|5/6|c.36C>T||||||,A|sequence_feature|LOW|DESI1|ENSG00000100418|domain:PPPDE_peptidase|ENST00000263256|protein_coding|3/6|c.36C>T||||||,A|sequence_feature|LOW|DESI1|ENSG00000100418|domain:PPPDE_peptidase|ENST00000263256|protein_coding|2/6|c.36C>T||||||,A|sequence_feature|LOW|DESI1|ENSG00000100418|domain:PPPDE_peptidase|ENST00000263256|protein_coding|6/6|c.36C>T||||||,A|sequence_feature|LOW|DESI1|ENSG00000100418|beta_strand|ENST00000263256|protein_coding|1/6|c.36C>T||||||,A|upstream_gene_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000359308|protein_coding||c.-656G>A|||||546|,A|upstream_gene_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000360079|protein_coding||c.-243G>A|||||315|,A|upstream_gene_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000464116|retained_intron||n.-1G>A|||||481|,A|upstream_gene_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000402580|protein_coding||c.-67G>A|||||491|,A|upstream_gene_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000428575|protein_coding||c.-342G>A|||||502|,A|upstream_gene_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000405878|protein_coding||c.-147G>A|||||657|,A|upstream_gene_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000405506|protein_coding||c.-60G>A|||||1179| 22 42016862 . C G . . ANN=G|5_prime_UTR_variant|MODIFIER|DESI1|ENSG00000100418|transcript|ENST00000263256|protein_coding|1/6|c.-19G>C|||||19|,G|upstream_gene_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000359308|protein_coding||c.-656C>G|||||492|,G|upstream_gene_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000360079|protein_coding||c.-243C>G|||||261|,G|upstream_gene_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000464116|retained_intron||n.-1C>G|||||427|,G|upstream_gene_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000402580|protein_coding||c.-67C>G|||||437|,G|upstream_gene_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000428575|protein_coding||c.-342C>G|||||448|,G|upstream_gene_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000405878|protein_coding||c.-147C>G|||||603|,G|upstream_gene_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000405506|protein_coding||c.-60C>G|||||1125| 22 42024073 . CAAAT C . . ANN=|sequence_feature|LOW|XRCC6|ENSG00000196419|compositionally_biased_region:Ser-rich__potentially_targets_for_phosphorylation_|ENST00000405878|protein_coding|2/13|c.83-48_83-45delAAAT||||||,|sequence_feature|LOW|XRCC6|ENSG00000196419|compositionally_biased_region:Ser-rich__potentially_targets_for_phosphorylation_|ENST00000405878|protein_coding|3/13|c.83-48_83-45delAAAT||||||,|sequence_feature|LOW|XRCC6|ENSG00000196419|compositionally_biased_region:Asp/Glu-rich__acidic_|ENST00000405878|protein_coding|2/13|c.83-48_83-45delAAAT||||||,|sequence_feature|LOW|XRCC6|ENSG00000196419|compositionally_biased_region:Asp/Glu-rich__acidic_|ENST00000405878|protein_coding|3/13|c.83-48_83-45delAAAT||||||,|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000359308|protein_coding|1/11|c.83-47_83-44delAATA||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000360079|protein_coding|2/12|c.83-47_83-44delAATA||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000464116|retained_intron|2/2|n.159-47_159-44delAATA||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000402580|protein_coding|2/12|c.83-47_83-44delAATA||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000428575|protein_coding|2/11|c.-205+5985_-205+5988delAATA||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000405878|protein_coding|2/12|c.83-47_83-44delAATA||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000405506|protein_coding|1/10|c.45+5985_45+5988delAATA||||||INFO_REALIGN_3_PRIME 22 42024106 . A AT . . ANN=T|splice_region_variant&intron_variant|LOW|XRCC6|ENSG00000196419|transcript|ENST00000359308|protein_coding|1/11|c.83-9dupT||||||INFO_REALIGN_3_PRIME,T|splice_region_variant&intron_variant|LOW|XRCC6|ENSG00000196419|transcript|ENST00000360079|protein_coding|2/12|c.83-9dupT||||||INFO_REALIGN_3_PRIME,T|splice_region_variant&intron_variant|LOW|XRCC6|ENSG00000196419|transcript|ENST00000464116|retained_intron|2/2|n.159-9dupT||||||INFO_REALIGN_3_PRIME,T|splice_region_variant&intron_variant|LOW|XRCC6|ENSG00000196419|transcript|ENST00000402580|protein_coding|2/12|c.83-9dupT||||||INFO_REALIGN_3_PRIME,T|splice_region_variant&intron_variant|LOW|XRCC6|ENSG00000196419|transcript|ENST00000405878|protein_coding|2/12|c.83-9dupT||||||INFO_REALIGN_3_PRIME,T|sequence_feature|LOW|XRCC6|ENSG00000196419|compositionally_biased_region:Ser-rich__potentially_targets_for_phosphorylation_|ENST00000405878|protein_coding|2/13|c.83-16_83-15insT||||||,T|sequence_feature|LOW|XRCC6|ENSG00000196419|compositionally_biased_region:Ser-rich__potentially_targets_for_phosphorylation_|ENST00000405878|protein_coding|3/13|c.83-16_83-15insT||||||,T|sequence_feature|LOW|XRCC6|ENSG00000196419|compositionally_biased_region:Asp/Glu-rich__acidic_|ENST00000405878|protein_coding|2/13|c.83-16_83-15insT||||||,T|sequence_feature|LOW|XRCC6|ENSG00000196419|compositionally_biased_region:Asp/Glu-rich__acidic_|ENST00000405878|protein_coding|3/13|c.83-16_83-15insT||||||,T|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000428575|protein_coding|2/11|c.-205+6023dupT||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000405506|protein_coding|1/10|c.45+6023dupT||||||INFO_REALIGN_3_PRIME 22 42032101 . G A . . ANN=A|sequence_feature|LOW|XRCC6|ENSG00000196419|helix|ENST00000405878|protein_coding|4/13|c.196-16G>A||||||,A|sequence_feature|LOW|XRCC6|ENSG00000196419|helix|ENST00000405878|protein_coding|3/13|c.196-16G>A||||||,A|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000359308|protein_coding|2/11|c.196-16G>A||||||,A|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000360079|protein_coding|3/12|c.196-16G>A||||||,A|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000402580|protein_coding|3/12|c.196-139G>A||||||,A|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000428575|protein_coding|2/11|c.-204-16G>A||||||,A|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000405878|protein_coding|3/12|c.196-16G>A||||||,A|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000405506|protein_coding|1/10|c.46-16G>A|||||| 22 42032103 . A AT . . ANN=T|splice_region_variant&intron_variant|LOW|XRCC6|ENSG00000196419|transcript|ENST00000359308|protein_coding|2/11|c.196-4dupT||||||INFO_REALIGN_3_PRIME,T|splice_region_variant&intron_variant|LOW|XRCC6|ENSG00000196419|transcript|ENST00000360079|protein_coding|3/12|c.196-4dupT||||||INFO_REALIGN_3_PRIME,T|splice_region_variant&intron_variant|LOW|XRCC6|ENSG00000196419|transcript|ENST00000428575|protein_coding|2/11|c.-204-4dupT||||||INFO_REALIGN_3_PRIME,T|splice_region_variant&intron_variant|LOW|XRCC6|ENSG00000196419|transcript|ENST00000405878|protein_coding|3/12|c.196-4dupT||||||INFO_REALIGN_3_PRIME,T|splice_region_variant&intron_variant|LOW|XRCC6|ENSG00000196419|transcript|ENST00000405506|protein_coding|1/10|c.46-4dupT||||||INFO_REALIGN_3_PRIME,T|sequence_feature|LOW|XRCC6|ENSG00000196419|helix|ENST00000405878|protein_coding|4/13|c.196-14_196-13insT||||||,T|sequence_feature|LOW|XRCC6|ENSG00000196419|helix|ENST00000405878|protein_coding|3/13|c.196-14_196-13insT||||||,T|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000402580|protein_coding|3/12|c.196-127dupT||||||INFO_REALIGN_3_PRIME 22 42032277 . G C . . ANN=C|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000359308|protein_coding|3/11|c.334+22G>C||||||,C|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000360079|protein_coding|4/12|c.334+22G>C||||||,C|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000402580|protein_coding|4/12|c.211+22G>C||||||,C|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000428575|protein_coding|3/11|c.-66+22G>C||||||,C|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000405878|protein_coding|4/12|c.334+22G>C||||||,C|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000405506|protein_coding|2/10|c.184+22G>C|||||| 22 42032481 . C T . . ANN=T|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000359308|protein_coding|3/11|c.335-39C>T||||||,T|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000360079|protein_coding|4/12|c.335-39C>T||||||,T|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000402580|protein_coding|4/12|c.212-39C>T||||||,T|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000428575|protein_coding|3/11|c.-65-39C>T||||||,T|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000405878|protein_coding|4/12|c.335-39C>T||||||,T|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000405506|protein_coding|2/10|c.185-39C>T|||||| 22 42032610 . C T . . ANN=T|missense_variant|MODERATE|XRCC6|ENSG00000196419|transcript|ENST00000359308|protein_coding|4/12|c.425C>T|p.Ser142Leu|1080/2709|425/1830|142/609||,T|missense_variant|MODERATE|XRCC6|ENSG00000196419|transcript|ENST00000360079|protein_coding|5/13|c.425C>T|p.Ser142Leu|667/2296|425/1830|142/609||,T|missense_variant|MODERATE|XRCC6|ENSG00000196419|transcript|ENST00000402580|protein_coding|5/13|c.302C>T|p.Ser101Leu|368/1998|302/1707|101/568||,T|missense_variant|MODERATE|XRCC6|ENSG00000196419|transcript|ENST00000428575|protein_coding|4/12|c.26C>T|p.Ser9Leu|367/1995|26/1431|9/476||,T|missense_variant|MODERATE|XRCC6|ENSG00000196419|transcript|ENST00000405878|protein_coding|5/13|c.425C>T|p.Ser142Leu|571/2200|425/1830|142/609||,T|missense_variant|MODERATE|XRCC6|ENSG00000196419|transcript|ENST00000405506|protein_coding|3/11|c.275C>T|p.Ser92Leu|334/1958|275/1680|92/559|| 22 42032806 . C T . . ANN=T|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000359308|protein_coding|4/11|c.589+32C>T||||||,T|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000360079|protein_coding|5/12|c.589+32C>T||||||,T|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000402580|protein_coding|5/12|c.466+32C>T||||||,T|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000428575|protein_coding|4/11|c.190+32C>T||||||,T|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000405878|protein_coding|5/12|c.589+32C>T||||||,T|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000405506|protein_coding|3/10|c.439+32C>T|||||| 22 42032815 . A G . . ANN=G|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000359308|protein_coding|4/11|c.589+41A>G||||||,G|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000360079|protein_coding|5/12|c.589+41A>G||||||,G|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000402580|protein_coding|5/12|c.466+41A>G||||||,G|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000428575|protein_coding|4/11|c.190+41A>G||||||,G|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000405878|protein_coding|5/12|c.589+41A>G||||||,G|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000405506|protein_coding|3/10|c.439+41A>G|||||| 22 42033686 . A G . . ANN=G|missense_variant|MODERATE|XRCC6|ENSG00000196419|transcript|ENST00000359308|protein_coding|5/12|c.664A>G|p.Ser222Gly|1319/2709|664/1830|222/609||,G|missense_variant|MODERATE|XRCC6|ENSG00000196419|transcript|ENST00000360079|protein_coding|6/13|c.664A>G|p.Ser222Gly|906/2296|664/1830|222/609||,G|missense_variant|MODERATE|XRCC6|ENSG00000196419|transcript|ENST00000402580|protein_coding|6/13|c.541A>G|p.Ser181Gly|607/1998|541/1707|181/568||,G|missense_variant|MODERATE|XRCC6|ENSG00000196419|transcript|ENST00000428575|protein_coding|5/12|c.265A>G|p.Ser89Gly|606/1995|265/1431|89/476||,G|missense_variant|MODERATE|XRCC6|ENSG00000196419|transcript|ENST00000405878|protein_coding|6/13|c.664A>G|p.Ser222Gly|810/2200|664/1830|222/609||,G|missense_variant|MODERATE|XRCC6|ENSG00000196419|transcript|ENST00000405506|protein_coding|4/11|c.514A>G|p.Ser172Gly|573/1958|514/1680|172/559|| 22 42033821 . C A . . ANN=A|sequence_feature|LOW|XRCC6|ENSG00000196419|beta_strand|ENST00000405878|protein_coding|7/13|c.773+26C>A||||||,A|sequence_feature|LOW|XRCC6|ENSG00000196419|beta_strand|ENST00000405878|protein_coding|6/13|c.773+26C>A||||||,A|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000359308|protein_coding|5/11|c.773+26C>A||||||,A|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000360079|protein_coding|6/12|c.773+26C>A||||||,A|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000402580|protein_coding|6/12|c.650+26C>A||||||,A|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000428575|protein_coding|5/11|c.374+26C>A||||||,A|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000405878|protein_coding|6/12|c.773+26C>A||||||,A|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000405506|protein_coding|4/10|c.623+26C>A|||||| 22 42042889 . T G . . ANN=G|sequence_feature|LOW|XRCC6|ENSG00000196419|beta_strand|ENST00000405878|protein_coding|7/13|c.774-11T>G||||||,G|sequence_feature|LOW|XRCC6|ENSG00000196419|beta_strand|ENST00000405878|protein_coding|6/13|c.774-11T>G||||||,G|downstream_gene_variant|MODIFIER|Y_RNA|ENSG00000200332|transcript|ENST00000363462|misc_RNA||n.*102A>C|||||1204|,G|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000359308|protein_coding|5/11|c.774-11T>G||||||,G|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000360079|protein_coding|6/12|c.774-11T>G||||||,G|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000402580|protein_coding|6/12|c.651-11T>G||||||,G|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000428575|protein_coding|5/11|c.375-11T>G||||||,G|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000405878|protein_coding|6/12|c.774-11T>G||||||,G|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000405506|protein_coding|4/10|c.624-11T>G|||||| 22 42043096 . G A . . ANN=A|sequence_feature|LOW|XRCC6|ENSG00000196419|domain:Ku|ENST00000405878|protein_coding|9/13|c.960+10G>A||||||,A|sequence_feature|LOW|XRCC6|ENSG00000196419|domain:Ku|ENST00000405878|protein_coding|10/13|c.960+10G>A||||||,A|sequence_feature|LOW|XRCC6|ENSG00000196419|domain:Ku|ENST00000405878|protein_coding|8/13|c.960+10G>A||||||,A|sequence_feature|LOW|XRCC6|ENSG00000196419|domain:Ku|ENST00000405878|protein_coding|7/13|c.960+10G>A||||||,A|sequence_feature|LOW|XRCC6|ENSG00000196419|beta_strand|ENST00000405878|protein_coding|8/13|c.960+10G>A||||||,A|sequence_feature|LOW|XRCC6|ENSG00000196419|beta_strand|ENST00000405878|protein_coding|7/13|c.960+10G>A||||||,A|downstream_gene_variant|MODIFIER|Y_RNA|ENSG00000200332|transcript|ENST00000363462|misc_RNA||n.*102C>T|||||997|,A|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000359308|protein_coding|6/11|c.960+10G>A||||||,A|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000360079|protein_coding|7/12|c.960+10G>A||||||,A|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000402580|protein_coding|7/12|c.837+10G>A||||||,A|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000428575|protein_coding|6/11|c.561+10G>A||||||,A|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000405878|protein_coding|7/12|c.960+10G>A||||||,A|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000405506|protein_coding|5/10|c.810+10G>A|||||| 22 42046861 . C T . . ANN=T|synonymous_variant|LOW|XRCC6|ENSG00000196419|transcript|ENST00000359308|protein_coding|7/12|c.1095C>T|p.Ser365Ser|1750/2709|1095/1830|365/609||,T|synonymous_variant|LOW|XRCC6|ENSG00000196419|transcript|ENST00000360079|protein_coding|8/13|c.1095C>T|p.Ser365Ser|1337/2296|1095/1830|365/609||,T|synonymous_variant|LOW|XRCC6|ENSG00000196419|transcript|ENST00000402580|protein_coding|8/13|c.972C>T|p.Ser324Ser|1038/1998|972/1707|324/568||,T|synonymous_variant|LOW|XRCC6|ENSG00000196419|transcript|ENST00000428575|protein_coding|7/12|c.696C>T|p.Ser232Ser|1037/1995|696/1431|232/476||,T|synonymous_variant|LOW|XRCC6|ENSG00000196419|transcript|ENST00000405878|protein_coding|8/13|c.1095C>T|p.Ser365Ser|1241/2200|1095/1830|365/609||,T|synonymous_variant|LOW|XRCC6|ENSG00000196419|transcript|ENST00000405506|protein_coding|6/11|c.945C>T|p.Ser315Ser|1004/1958|945/1680|315/559||,T|sequence_feature|LOW|XRCC6|ENSG00000196419|domain:Ku|ENST00000405878|protein_coding|9/13|c.1095C>T||||||,T|sequence_feature|LOW|XRCC6|ENSG00000196419|domain:Ku|ENST00000405878|protein_coding|10/13|c.1095C>T||||||,T|sequence_feature|LOW|XRCC6|ENSG00000196419|domain:Ku|ENST00000405878|protein_coding|8/13|c.1095C>T||||||,T|sequence_feature|LOW|XRCC6|ENSG00000196419|domain:Ku|ENST00000405878|protein_coding|7/13|c.1095C>T||||||,T|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000200332|transcript|ENST00000363462|misc_RNA||n.-1G>A|||||2667| 22 42046910 . C G . . ANN=G|sequence_feature|LOW|XRCC6|ENSG00000196419|domain:Ku|ENST00000405878|protein_coding|9/13|c.1129+15C>G||||||,G|sequence_feature|LOW|XRCC6|ENSG00000196419|domain:Ku|ENST00000405878|protein_coding|10/13|c.1129+15C>G||||||,G|sequence_feature|LOW|XRCC6|ENSG00000196419|domain:Ku|ENST00000405878|protein_coding|8/13|c.1129+15C>G||||||,G|sequence_feature|LOW|XRCC6|ENSG00000196419|domain:Ku|ENST00000405878|protein_coding|7/13|c.1129+15C>G||||||,G|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000200332|transcript|ENST00000363462|misc_RNA||n.-1G>C|||||2716|,G|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000359308|protein_coding|7/11|c.1129+15C>G||||||,G|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000360079|protein_coding|8/12|c.1129+15C>G||||||,G|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000402580|protein_coding|8/12|c.1006+15C>G||||||,G|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000428575|protein_coding|7/11|c.730+15C>G||||||,G|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000405878|protein_coding|8/12|c.1129+15C>G||||||,G|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000405506|protein_coding|6/10|c.979+15C>G|||||| 22 42046936 . G C . . ANN=C|sequence_feature|LOW|XRCC6|ENSG00000196419|domain:Ku|ENST00000405878|protein_coding|9/13|c.1129+41G>C||||||,C|sequence_feature|LOW|XRCC6|ENSG00000196419|domain:Ku|ENST00000405878|protein_coding|10/13|c.1129+41G>C||||||,C|sequence_feature|LOW|XRCC6|ENSG00000196419|domain:Ku|ENST00000405878|protein_coding|8/13|c.1129+41G>C||||||,C|sequence_feature|LOW|XRCC6|ENSG00000196419|domain:Ku|ENST00000405878|protein_coding|7/13|c.1129+41G>C||||||,C|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000200332|transcript|ENST00000363462|misc_RNA||n.-1C>G|||||2742|,C|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000359308|protein_coding|7/11|c.1129+41G>C||||||,C|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000360079|protein_coding|8/12|c.1129+41G>C||||||,C|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000402580|protein_coding|8/12|c.1006+41G>C||||||,C|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000428575|protein_coding|7/11|c.730+41G>C||||||,C|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000405878|protein_coding|8/12|c.1129+41G>C||||||,C|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000405506|protein_coding|6/10|c.979+41G>C|||||| 22 42049736 . A G . . ANN=G|sequence_feature|LOW|XRCC6|ENSG00000196419|domain:Ku|ENST00000405878|protein_coding|9/13|c.1291+42A>G||||||,G|sequence_feature|LOW|XRCC6|ENSG00000196419|domain:Ku|ENST00000405878|protein_coding|10/13|c.1291+42A>G||||||,G|sequence_feature|LOW|XRCC6|ENSG00000196419|domain:Ku|ENST00000405878|protein_coding|8/13|c.1291+42A>G||||||,G|sequence_feature|LOW|XRCC6|ENSG00000196419|domain:Ku|ENST00000405878|protein_coding|7/13|c.1291+42A>G||||||,G|sequence_feature|LOW|XRCC6|ENSG00000196419|beta_strand|ENST00000405878|protein_coding|9/13|c.1291+42A>G||||||,G|sequence_feature|LOW|XRCC6|ENSG00000196419|beta_strand|ENST00000405878|protein_coding|10/13|c.1291+42A>G||||||,G|upstream_gene_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000478914|retained_intron||n.-1A>G|||||3221|,G|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000359308|protein_coding|8/11|c.1291+42A>G||||||,G|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000360079|protein_coding|9/12|c.1291+42A>G||||||,G|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000402580|protein_coding|9/12|c.1168+42A>G||||||,G|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000428575|protein_coding|8/11|c.892+42A>G||||||,G|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000405878|protein_coding|9/12|c.1291+42A>G||||||,G|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000405506|protein_coding|7/10|c.1141+42A>G|||||| 22 42052872 . A C . . ANN=C|sequence_feature|LOW|XRCC6|ENSG00000196419|domain:Ku|ENST00000405878|protein_coding|9/13|c.1292-35A>C||||||,C|sequence_feature|LOW|XRCC6|ENSG00000196419|domain:Ku|ENST00000405878|protein_coding|10/13|c.1292-35A>C||||||,C|sequence_feature|LOW|XRCC6|ENSG00000196419|domain:Ku|ENST00000405878|protein_coding|8/13|c.1292-35A>C||||||,C|sequence_feature|LOW|XRCC6|ENSG00000196419|domain:Ku|ENST00000405878|protein_coding|7/13|c.1292-35A>C||||||,C|sequence_feature|LOW|XRCC6|ENSG00000196419|beta_strand|ENST00000405878|protein_coding|9/13|c.1292-35A>C||||||,C|sequence_feature|LOW|XRCC6|ENSG00000196419|beta_strand|ENST00000405878|protein_coding|10/13|c.1292-35A>C||||||,C|upstream_gene_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000478914|retained_intron||n.-1A>C|||||85|,C|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000359308|protein_coding|8/11|c.1292-35A>C||||||,C|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000360079|protein_coding|9/12|c.1292-35A>C||||||,C|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000402580|protein_coding|9/12|c.1169-35A>C||||||,C|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000428575|protein_coding|8/11|c.893-35A>C||||||,C|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000405878|protein_coding|9/12|c.1292-35A>C||||||,C|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000405506|protein_coding|7/10|c.1142-35A>C|||||| 22 42054239 . CATT C . . ANN=|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000359308|protein_coding|9/11|c.1422-13_1422-11delATT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000360079|protein_coding|10/12|c.1422-13_1422-11delATT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000402580|protein_coding|10/12|c.1299-13_1299-11delATT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000428575|protein_coding|9/11|c.1023-13_1023-11delATT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000405878|protein_coding|10/12|c.1422-13_1422-11delATT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000405506|protein_coding|8/10|c.1272-13_1272-11delATT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000478914|retained_intron|1/2|n.81-13_81-11delATT||||||INFO_REALIGN_3_PRIME 22 42054365 . G A . . ANN=A|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000359308|protein_coding|10/11|c.1522+9G>A||||||,A|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000360079|protein_coding|11/12|c.1522+9G>A||||||,A|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000402580|protein_coding|11/12|c.1399+9G>A||||||,A|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000428575|protein_coding|10/11|c.1123+9G>A||||||,A|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000405878|protein_coding|11/12|c.1522+9G>A||||||,A|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000405506|protein_coding|9/10|c.1372+9G>A||||||,A|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000478914|retained_intron|2/2|n.181+9G>A|||||| 22 42054366 . T C . . ANN=C|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000359308|protein_coding|10/11|c.1522+10T>C||||||,C|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000360079|protein_coding|11/12|c.1522+10T>C||||||,C|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000402580|protein_coding|11/12|c.1399+10T>C||||||,C|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000428575|protein_coding|10/11|c.1123+10T>C||||||,C|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000405878|protein_coding|11/12|c.1522+10T>C||||||,C|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000405506|protein_coding|9/10|c.1372+10T>C||||||,C|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000478914|retained_intron|2/2|n.181+10T>C|||||| 22 42054373 . G C . . ANN=C|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000359308|protein_coding|10/11|c.1522+17G>C||||||,C|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000360079|protein_coding|11/12|c.1522+17G>C||||||,C|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000402580|protein_coding|11/12|c.1399+17G>C||||||,C|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000428575|protein_coding|10/11|c.1123+17G>C||||||,C|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000405878|protein_coding|11/12|c.1522+17G>C||||||,C|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000405506|protein_coding|9/10|c.1372+17G>C||||||,C|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000478914|retained_intron|2/2|n.181+17G>C|||||| 22 42057294 . C T . . ANN=T|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000359308|protein_coding|10/11|c.1523-41C>T||||||,T|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000360079|protein_coding|11/12|c.1523-41C>T||||||,T|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000402580|protein_coding|11/12|c.1400-41C>T||||||,T|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000428575|protein_coding|10/11|c.1124-41C>T||||||,T|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000405878|protein_coding|11/12|c.1523-41C>T||||||,T|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000405506|protein_coding|9/10|c.1373-41C>T||||||,T|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000478914|retained_intron|2/2|n.182-41C>T|||||| 22 42057295 . G C . . ANN=C|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000359308|protein_coding|10/11|c.1523-40G>C||||||,C|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000360079|protein_coding|11/12|c.1523-40G>C||||||,C|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000402580|protein_coding|11/12|c.1400-40G>C||||||,C|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000428575|protein_coding|10/11|c.1124-40G>C||||||,C|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000405878|protein_coding|11/12|c.1523-40G>C||||||,C|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000405506|protein_coding|9/10|c.1373-40G>C||||||,C|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000478914|retained_intron|2/2|n.182-40G>C|||||| 22 42057308 . C G . . ANN=G|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000359308|protein_coding|10/11|c.1523-27C>G||||||,G|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000360079|protein_coding|11/12|c.1523-27C>G||||||,G|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000402580|protein_coding|11/12|c.1400-27C>G||||||,G|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000428575|protein_coding|10/11|c.1124-27C>G||||||,G|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000405878|protein_coding|11/12|c.1523-27C>G||||||,G|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000405506|protein_coding|9/10|c.1373-27C>G||||||,G|intron_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000478914|retained_intron|2/2|n.182-27C>G|||||| 22 42059768 . G T . . ANN=T|synonymous_variant|LOW|XRCC6|ENSG00000196419|transcript|ENST00000359308|protein_coding|12/12|c.1779G>T|p.Gly593Gly|2434/2709|1779/1830|593/609||,T|synonymous_variant|LOW|XRCC6|ENSG00000196419|transcript|ENST00000360079|protein_coding|13/13|c.1779G>T|p.Gly593Gly|2021/2296|1779/1830|593/609||,T|synonymous_variant|LOW|XRCC6|ENSG00000196419|transcript|ENST00000402580|protein_coding|13/13|c.1656G>T|p.Gly552Gly|1722/1998|1656/1707|552/568||,T|synonymous_variant|LOW|XRCC6|ENSG00000196419|transcript|ENST00000428575|protein_coding|12/12|c.1380G>T|p.Gly460Gly|1721/1995|1380/1431|460/476||,T|synonymous_variant|LOW|XRCC6|ENSG00000196419|transcript|ENST00000405878|protein_coding|13/13|c.1779G>T|p.Gly593Gly|1925/2200|1779/1830|593/609||,T|synonymous_variant|LOW|XRCC6|ENSG00000196419|transcript|ENST00000405506|protein_coding|11/11|c.1629G>T|p.Gly543Gly|1688/1958|1629/1680|543/559||,T|sequence_feature|LOW|XRCC6|ENSG00000196419|interacting_region:Interaction_with_DEAF1|ENST00000405878|protein_coding|13/13|c.1779G>T||||||,T|sequence_feature|LOW|XRCC6|ENSG00000196419|domain:SAP|ENST00000405878|protein_coding|13/13|c.1779G>T||||||,T|downstream_gene_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000478914|retained_intron||n.*550G>T|||||2065| 22 42059828 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000359308|protein_coding|12/12|c.*9C>T|||||9|,T|3_prime_UTR_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000360079|protein_coding|13/13|c.*9C>T|||||9|,T|3_prime_UTR_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000402580|protein_coding|13/13|c.*9C>T|||||9|,T|3_prime_UTR_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000428575|protein_coding|12/12|c.*9C>T|||||9|,T|3_prime_UTR_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000405878|protein_coding|13/13|c.*9C>T|||||9|,T|3_prime_UTR_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000405506|protein_coding|11/11|c.*9C>T|||||9|,T|downstream_gene_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000478914|retained_intron||n.*550C>T|||||2125| 22 42059854 . G T . . ANN=T|3_prime_UTR_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000359308|protein_coding|12/12|c.*35G>T|||||35|,T|3_prime_UTR_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000360079|protein_coding|13/13|c.*35G>T|||||35|,T|3_prime_UTR_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000402580|protein_coding|13/13|c.*35G>T|||||35|,T|3_prime_UTR_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000428575|protein_coding|12/12|c.*35G>T|||||35|,T|3_prime_UTR_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000405878|protein_coding|13/13|c.*35G>T|||||35|,T|3_prime_UTR_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000405506|protein_coding|11/11|c.*35G>T|||||35|,T|downstream_gene_variant|MODIFIER|XRCC6|ENSG00000196419|transcript|ENST00000478914|retained_intron||n.*550G>T|||||2151| 22 42076318 . G A . . ANN=A|synonymous_variant|LOW|NHP2L1|ENSG00000100138|transcript|ENST00000402458|protein_coding|2/3|c.66C>T|p.Leu22Leu|121/462|66/399|22/132||,A|synonymous_variant|LOW|NHP2L1|ENSG00000100138|transcript|ENST00000355257|protein_coding|2/3|c.54C>T|p.Leu18Leu|167/1503|54/387|18/128||,A|synonymous_variant|LOW|NHP2L1|ENSG00000100138|transcript|ENST00000215956|protein_coding|2/3|c.54C>T|p.Leu18Leu|318/1630|54/387|18/128||,A|synonymous_variant|LOW|NHP2L1|ENSG00000100138|transcript|ENST00000401959|protein_coding|3/4|c.54C>T|p.Leu18Leu|371/1670|54/387|18/128||,A|sequence_feature|LOW|NHP2L1|ENSG00000100138|helix|ENST00000355257|protein_coding|2/3|c.54C>T||||||,A|downstream_gene_variant|MODIFIER|RNU6-476P|ENSG00000207457|transcript|ENST00000384726|snRNA||n.*107G>A|||||497|,A|non_coding_exon_variant|MODIFIER|NHP2L1|ENSG00000100138|transcript|ENST00000463675|processed_transcript|3/4|n.311C>T||||||,A|non_coding_exon_variant|MODIFIER|NHP2L1|ENSG00000100138|transcript|ENST00000488571|processed_transcript|3/3|n.486C>T||||||,A|non_coding_exon_variant|MODIFIER|NHP2L1|ENSG00000100138|transcript|ENST00000469028|processed_transcript|3/3|n.668C>T|||||| 22 42076330 . G A . . ANN=A|synonymous_variant|LOW|NHP2L1|ENSG00000100138|transcript|ENST00000402458|protein_coding|2/3|c.54C>T|p.Ala18Ala|109/462|54/399|18/132||,A|synonymous_variant|LOW|NHP2L1|ENSG00000100138|transcript|ENST00000355257|protein_coding|2/3|c.42C>T|p.Ala14Ala|155/1503|42/387|14/128||,A|synonymous_variant|LOW|NHP2L1|ENSG00000100138|transcript|ENST00000215956|protein_coding|2/3|c.42C>T|p.Ala14Ala|306/1630|42/387|14/128||,A|synonymous_variant|LOW|NHP2L1|ENSG00000100138|transcript|ENST00000401959|protein_coding|3/4|c.42C>T|p.Ala14Ala|359/1670|42/387|14/128||,A|downstream_gene_variant|MODIFIER|RNU6-476P|ENSG00000207457|transcript|ENST00000384726|snRNA||n.*107G>A|||||509|,A|non_coding_exon_variant|MODIFIER|NHP2L1|ENSG00000100138|transcript|ENST00000463675|processed_transcript|3/4|n.299C>T||||||,A|non_coding_exon_variant|MODIFIER|NHP2L1|ENSG00000100138|transcript|ENST00000488571|processed_transcript|3/3|n.474C>T||||||,A|non_coding_exon_variant|MODIFIER|NHP2L1|ENSG00000100138|transcript|ENST00000469028|processed_transcript|3/3|n.656C>T|||||| 22 42076372 . T TG . . ANN=G|splice_region_variant&intron_variant|LOW|NHP2L1|ENSG00000100138|transcript|ENST00000402458|protein_coding|1/2|c.16-5dupC||||||,G|splice_region_variant&intron_variant|LOW|NHP2L1|ENSG00000100138|transcript|ENST00000355257|protein_coding|1/2|c.4-5dupC||||||,G|splice_region_variant&intron_variant|LOW|NHP2L1|ENSG00000100138|transcript|ENST00000215956|protein_coding|1/2|c.4-5dupC||||||,G|splice_region_variant&intron_variant|LOW|NHP2L1|ENSG00000100138|transcript|ENST00000401959|protein_coding|2/3|c.4-5dupC||||||,G|splice_region_variant&intron_variant|LOW|NHP2L1|ENSG00000100138|transcript|ENST00000463675|processed_transcript|2/3|n.261-5dupC||||||,G|splice_region_variant&intron_variant|LOW|NHP2L1|ENSG00000100138|transcript|ENST00000488571|processed_transcript|2/2|n.436-5dupC||||||,G|splice_region_variant&intron_variant|LOW|NHP2L1|ENSG00000100138|transcript|ENST00000469028|processed_transcript|2/2|n.618-5dupC||||||,G|downstream_gene_variant|MODIFIER|RNU6-476P|ENSG00000207457|transcript|ENST00000384726|snRNA||n.*107_*107insG|||||552| 22 42076381 . C A . . ANN=A|downstream_gene_variant|MODIFIER|RNU6-476P|ENSG00000207457|transcript|ENST00000384726|snRNA||n.*107C>A|||||560|,A|intron_variant|MODIFIER|NHP2L1|ENSG00000100138|transcript|ENST00000402458|protein_coding|1/2|c.16-13G>T||||||,A|intron_variant|MODIFIER|NHP2L1|ENSG00000100138|transcript|ENST00000355257|protein_coding|1/2|c.4-13G>T||||||,A|intron_variant|MODIFIER|NHP2L1|ENSG00000100138|transcript|ENST00000215956|protein_coding|1/2|c.4-13G>T||||||,A|intron_variant|MODIFIER|NHP2L1|ENSG00000100138|transcript|ENST00000401959|protein_coding|2/3|c.4-13G>T||||||,A|intron_variant|MODIFIER|NHP2L1|ENSG00000100138|transcript|ENST00000463675|processed_transcript|2/3|n.261-13G>T||||||,A|intron_variant|MODIFIER|NHP2L1|ENSG00000100138|transcript|ENST00000488571|processed_transcript|2/2|n.436-13G>T||||||,A|intron_variant|MODIFIER|NHP2L1|ENSG00000100138|transcript|ENST00000469028|processed_transcript|2/2|n.618-13G>T|||||| 22 42078409 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|NHP2L1|ENSG00000100138|transcript|ENST00000215956|protein_coding|1/3|c.-47C>T|||||47|,A|5_prime_UTR_variant|MODIFIER|NHP2L1|ENSG00000100138|transcript|ENST00000401959|protein_coding|2/4|c.-47C>T|||||47|,A|downstream_gene_variant|MODIFIER|RNU6-476P|ENSG00000207457|transcript|ENST00000384726|snRNA||n.*107G>A|||||2588|,A|intron_variant|MODIFIER|NHP2L1|ENSG00000100138|transcript|ENST00000402458|protein_coding|1/2|c.16-2041C>T||||||,A|intron_variant|MODIFIER|NHP2L1|ENSG00000100138|transcript|ENST00000355257|protein_coding|1/2|c.4-2041C>T||||||,A|intron_variant|MODIFIER|NHP2L1|ENSG00000100138|transcript|ENST00000463675|processed_transcript|2/3|n.261-2041C>T||||||,A|intron_variant|MODIFIER|NHP2L1|ENSG00000100138|transcript|ENST00000469028|processed_transcript|2/2|n.618-2041C>T||||||,A|non_coding_exon_variant|MODIFIER|NHP2L1|ENSG00000100138|transcript|ENST00000488571|processed_transcript|1/3|n.52C>T|||||| 22 42084790 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|NHP2L1|ENSG00000100138|transcript|ENST00000355257|protein_coding|1/2|c.3+8C>T||||||,A|splice_region_variant&intron_variant|LOW|NHP2L1|ENSG00000100138|transcript|ENST00000401959|protein_coding|1/3|c.-230+8C>T||||||,A|splice_region_variant&intron_variant|LOW|NHP2L1|ENSG00000100138|transcript|ENST00000463675|processed_transcript|1/3|n.11+8C>T||||||,A|splice_region_variant&intron_variant|LOW|NHP2L1|ENSG00000100138|transcript|ENST00000469028|processed_transcript|1/2|n.11+8C>T||||||,A|splice_region_variant&intron_variant|LOW|NHP2L1|ENSG00000100138|transcript|ENST00000469522|retained_intron|1/1|n.54+8C>T||||||,A|upstream_gene_variant|MODIFIER|C22orf46|ENSG00000184208|transcript|ENST00000402966|protein_coding||c.-86G>A|||||1757|,A|upstream_gene_variant|MODIFIER|C22orf46|ENSG00000184208|transcript|ENST00000472110|processed_transcript||n.-1G>A|||||153|,A|intron_variant|MODIFIER|NHP2L1|ENSG00000100138|transcript|ENST00000402458|protein_coding|1/2|c.15+1649C>T|||||| 22 42095517 . C T . . ANN=T|5_prime_UTR_premature_start_codon_gain_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|1/31|c.-26C>T||||||,T|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|1/31|c.-26C>T|||||26|,T|upstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding||c.-806C>T|||||1|,T|upstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding||c.-3002C>T|||||1|,T|upstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding||c.-1922C>T|||||1|,T|downstream_gene_variant|MODIFIER|C22orf46|ENSG00000184208|transcript|ENST00000402966|protein_coding||c.*817C>T|||||1377|,T|downstream_gene_variant|MODIFIER|Z83840.1|ENSG00000255782|transcript|ENST00000539984|pseudogene||n.*1857C>T|||||3469| 22 42095539 . G GGA . . ANN=GA|frameshift_variant&start_lost|HIGH|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|1/31|c.-1_1dupGA|p.Met1fs|42/4020|2/3825|1/1274||INFO_REALIGN_3_PRIME,GA|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|1/20|c.-781_-780dupGA|||||24450|INFO_REALIGN_3_PRIME,GA|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|1/30|c.-2977_-2976dupGA|||||82195|INFO_REALIGN_3_PRIME,GA|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|1/30|c.-1897_-1896dupGA|||||54452|INFO_REALIGN_3_PRIME,GA|downstream_gene_variant|MODIFIER|C22orf46|ENSG00000184208|transcript|ENST00000402966|protein_coding||c.*817_*817insGA|||||1400|,GA|downstream_gene_variant|MODIFIER|Z83840.1|ENSG00000255782|transcript|ENST00000539984|pseudogene||n.*1857_*1857insGA|||||3492|;LOF=(MEI1|ENSG00000167077|18|0.06) 22 42095573 . A G . . ANN=G|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|1/31|c.31A>G|p.Thr11Ala|71/4020|31/3825|11/1274||,G|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|1/20|c.-750A>G|||||24421|,G|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|1/30|c.-2946A>G|||||82166|,G|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|1/30|c.-1866A>G|||||54423|,G|downstream_gene_variant|MODIFIER|C22orf46|ENSG00000184208|transcript|ENST00000402966|protein_coding||c.*817A>G|||||1433|,G|downstream_gene_variant|MODIFIER|Z83840.1|ENSG00000255782|transcript|ENST00000539984|pseudogene||n.*1857A>G|||||3525| 22 42095603 . G A . . ANN=A|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|1/31|c.61G>A|p.Ala21Thr|101/4020|61/3825|21/1274||,A|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|1/20|c.-720G>A|||||24391|,A|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|1/30|c.-2916G>A|||||82136|,A|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|1/30|c.-1836G>A|||||54393|,A|downstream_gene_variant|MODIFIER|C22orf46|ENSG00000184208|transcript|ENST00000402966|protein_coding||c.*817G>A|||||1463|,A|downstream_gene_variant|MODIFIER|Z83840.1|ENSG00000255782|transcript|ENST00000539984|pseudogene||n.*1857G>A|||||3555| 22 42095644 . C T . . ANN=T|synonymous_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|1/31|c.102C>T|p.Arg34Arg|142/4020|102/3825|34/1274||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|1/20|c.-679C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|1/30|c.-2875C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|1/30|c.-1795C>T||||||,T|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|1/20|c.-679C>T|||||24350|,T|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|1/30|c.-2875C>T|||||82095|,T|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|1/30|c.-1795C>T|||||54352|,T|downstream_gene_variant|MODIFIER|C22orf46|ENSG00000184208|transcript|ENST00000402966|protein_coding||c.*817C>T|||||1504|,T|downstream_gene_variant|MODIFIER|Z83840.1|ENSG00000255782|transcript|ENST00000539984|pseudogene||n.*1857C>T|||||3596| 22 42095658 . T G . . ANN=G|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|1/31|c.116T>G|p.Val39Gly|156/4020|116/3825|39/1274||,G|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|1/20|c.-665T>G|||||24336|,G|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|1/30|c.-2861T>G|||||82081|,G|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|1/30|c.-1781T>G|||||54338|,G|downstream_gene_variant|MODIFIER|C22orf46|ENSG00000184208|transcript|ENST00000402966|protein_coding||c.*817T>G|||||1518|,G|downstream_gene_variant|MODIFIER|Z83840.1|ENSG00000255782|transcript|ENST00000539984|pseudogene||n.*1857T>G|||||3610| 22 42095711 . G C . . ANN=C|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|1/31|c.169G>C|p.Val57Leu|209/4020|169/3825|57/1274||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|1/20|c.-612G>C||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|1/30|c.-2808G>C||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|1/30|c.-1728G>C||||||,C|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|1/20|c.-612G>C|||||24283|,C|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|1/30|c.-2808G>C|||||82028|,C|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|1/30|c.-1728G>C|||||54285|,C|downstream_gene_variant|MODIFIER|C22orf46|ENSG00000184208|transcript|ENST00000402966|protein_coding||c.*817G>C|||||1571|,C|downstream_gene_variant|MODIFIER|Z83840.1|ENSG00000255782|transcript|ENST00000539984|pseudogene||n.*1857G>C|||||3663| 22 42095725 . G A . . ANN=A|downstream_gene_variant|MODIFIER|C22orf46|ENSG00000184208|transcript|ENST00000402966|protein_coding||c.*817G>A|||||1585|,A|downstream_gene_variant|MODIFIER|Z83840.1|ENSG00000255782|transcript|ENST00000539984|pseudogene||n.*1857G>A|||||3677|,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|1/30|c.174+9G>A||||||,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|1/19|c.-607+9G>A||||||,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|1/29|c.-2803+9G>A||||||,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|1/29|c.-1723+9G>A|||||| 22 42099300 . G A . . ANN=A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|1/30|c.175-35G>A||||||,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|1/19|c.-606-35G>A||||||,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|1/29|c.-2802-35G>A||||||,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|1/29|c.-1722-35G>A|||||| 22 42099371 . G C . . ANN=C|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|2/31|c.211G>C|p.Asp71His|251/4020|211/3825|71/1274||,C|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|2/20|c.-570G>C|||||20623|,C|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|2/30|c.-2766G>C|||||78368|,C|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|2/30|c.-1686G>C|||||50625| 22 42099494 . A C . . ANN=C|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|2/30|c.298+36A>C||||||,C|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|2/19|c.-483+36A>C||||||,C|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|2/29|c.-2679+36A>C||||||,C|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|2/29|c.-1599+36A>C|||||| 22 42101465 . C T . . ANN=T|downstream_gene_variant|MODIFIER|HMGN2P10|ENSG00000231261|transcript|ENST00000448085|processed_pseudogene||n.*265G>A|||||3764|,T|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|2/30|c.299-43C>T||||||,T|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|2/19|c.-482-43C>T||||||,T|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|2/29|c.-2678-43C>T||||||,T|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|2/29|c.-1598-43C>T|||||| 22 42101594 . A G . . ANN=G|downstream_gene_variant|MODIFIER|HMGN2P10|ENSG00000231261|transcript|ENST00000448085|processed_pseudogene||n.*265T>C|||||3635|,G|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|3/30|c.349+36A>G||||||,G|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|3/19|c.-432+36A>G||||||,G|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|3/29|c.-2628+36A>G||||||,G|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|3/29|c.-1548+36A>G|||||| 22 42110049 . C T . . ANN=T|synonymous_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|4/31|c.393C>T|p.Ile131Ile|433/4020|393/3825|131/1274||,T|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|4/20|c.-388C>T|||||9945|,T|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|4/30|c.-2584C>T|||||67690|,T|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|4/30|c.-1504C>T|||||39947|,T|upstream_gene_variant|MODIFIER|HMGN2P10|ENSG00000231261|transcript|ENST00000448085|processed_pseudogene||n.-1G>A|||||4556| 22 42112035 . C T . . ANN=T|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|4/30|c.424-10C>T||||||,T|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|4/19|c.-357-10C>T||||||,T|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|4/29|c.-2553-10C>T||||||,T|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|4/29|c.-1473-10C>T|||||| 22 42114027 . G A . . ANN=A|downstream_gene_variant|MODIFIER|RNU6ATAC22P|ENSG00000252603|transcript|ENST00000516794|snRNA||n.*89C>T|||||4020|,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|5/30|c.530-48G>A||||||,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|5/19|c.-251-48G>A||||||,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|5/29|c.-2447-48G>A||||||,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|5/29|c.-1367-48G>A|||||| 22 42114112 . C G . . ANN=G|stop_gained|HIGH|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|6/31|c.567C>G|p.Tyr189*|607/4020|567/3825|189/1274||,G|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|6/20|c.-214C>G|||||5882|,G|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|6/30|c.-2410C>G|||||63627|,G|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|6/30|c.-1330C>G|||||35884|,G|downstream_gene_variant|MODIFIER|RNU6ATAC22P|ENSG00000252603|transcript|ENST00000516794|snRNA||n.*89G>C|||||3935|;LOF=(MEI1|ENSG00000167077|18|0.06);NMD=(MEI1|ENSG00000167077|18|0.06) 22 42114122 . G T . . ANN=T|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|6/31|c.577G>T|p.Gly193Cys|617/4020|577/3825|193/1274||,T|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|6/20|c.-204G>T|||||5872|,T|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|6/30|c.-2400G>T|||||63617|,T|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|6/30|c.-1320G>T|||||35874|,T|downstream_gene_variant|MODIFIER|RNU6ATAC22P|ENSG00000252603|transcript|ENST00000516794|snRNA||n.*89C>A|||||3925| 22 42114160 . A G . . ANN=G|synonymous_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|6/31|c.615A>G|p.Leu205Leu|655/4020|615/3825|205/1274||,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|6/20|c.-166A>G||||||,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|6/30|c.-2362A>G||||||,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|6/30|c.-1282A>G||||||,G|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|6/20|c.-166A>G|||||5834|,G|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|6/30|c.-2362A>G|||||63579|,G|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|6/30|c.-1282A>G|||||35836|,G|downstream_gene_variant|MODIFIER|RNU6ATAC22P|ENSG00000252603|transcript|ENST00000516794|snRNA||n.*89T>C|||||3887| 22 42114306 . G A . . ANN=A|downstream_gene_variant|MODIFIER|RNU6ATAC22P|ENSG00000252603|transcript|ENST00000516794|snRNA||n.*89C>T|||||3741|,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|6/30|c.733+28G>A||||||,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|6/19|c.-48+28G>A||||||,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|6/29|c.-2244+28G>A||||||,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|6/29|c.-1164+28G>A|||||| 22 42120121 . G T . . ANN=T|upstream_gene_variant|MODIFIER|RNU6ATAC22P|ENSG00000252603|transcript|ENST00000516794|snRNA||n.-1C>A|||||1986|,T|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|7/30|c.864+44G>T||||||,T|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|7/19|c.84+44G>T||||||,T|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|7/29|c.-2113+44G>T||||||,T|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|7/29|c.-1033+44G>T|||||| 22 42125754 . C T . . ANN=T|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|8/31|c.950C>T|p.Ala317Val|990/4020|950/3825|317/1274||,T|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|8/20|c.170C>T|p.Ala57Val|975/2326|170/1521|57/506||,T|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|8/30|c.-2027C>T|||||51985|,T|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|8/30|c.-947C>T|||||24242| 22 42126652 . A G . . ANN=G|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|9/30|c.1096+11A>G||||||,G|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|9/19|c.316+11A>G||||||,G|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|9/29|c.-1881+11A>G||||||,G|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|9/29|c.-801+11A>G|||||| 22 42126683 . C T . . ANN=T|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|9/30|c.1096+42C>T||||||,T|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|9/19|c.316+42C>T||||||,T|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|9/29|c.-1881+42C>T||||||,T|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|9/29|c.-801+42C>T|||||| 22 42128343 . G C . . ANN=C|synonymous_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|10/31|c.1191G>C|p.Leu397Leu|1231/4020|1191/3825|397/1274||,C|synonymous_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|10/20|c.411G>C|p.Leu137Leu|1216/2326|411/1521|137/506||,C|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|10/30|c.-1786G>C|||||49396|,C|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|10/30|c.-706G>C|||||21653| 22 42128450 . G A . . ANN=A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|10/30|c.1197-23G>A||||||,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|10/19|c.417-23G>A||||||,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|10/29|c.-1780-23G>A||||||,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|10/29|c.-700-23G>A|||||| 22 42128461 . T A . . ANN=A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|10/30|c.1197-12T>A||||||,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|10/19|c.417-12T>A||||||,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|10/29|c.-1780-12T>A||||||,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|10/29|c.-700-12T>A|||||| 22 42128468 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|10/30|c.1197-5C>T||||||,T|splice_region_variant&intron_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|10/19|c.417-5C>T||||||,T|splice_region_variant&intron_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|10/29|c.-1780-5C>T||||||,T|splice_region_variant&intron_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|10/29|c.-700-5C>T|||||| 22 42139043 . G A . . ANN=A|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000206813|transcript|ENST00000384086|misc_RNA||n.-1G>A|||||4273|,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|11/30|c.1332-41G>A||||||,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|11/19|c.552-41G>A||||||,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|11/29|c.-1645-41G>A||||||,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|11/29|c.-565-41G>A|||||| 22 42139054 . G A . . ANN=A|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000206813|transcript|ENST00000384086|misc_RNA||n.-1G>A|||||4262|,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|11/30|c.1332-30G>A||||||,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|11/19|c.552-30G>A||||||,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|11/29|c.-1645-30G>A||||||,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|11/29|c.-565-30G>A|||||| 22 42139078 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|11/30|c.1332-6A>G||||||,G|splice_region_variant&intron_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|11/19|c.552-6A>G||||||,G|splice_region_variant&intron_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|11/29|c.-1645-6A>G||||||,G|splice_region_variant&intron_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|11/29|c.-565-6A>G||||||,G|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000206813|transcript|ENST00000384086|misc_RNA||n.-1A>G|||||4238| 22 42139175 . A C . . ANN=C|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|12/31|c.1423A>C|p.Thr475Pro|1463/4020|1423/3825|475/1274||,C|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|12/20|c.643A>C|p.Thr215Pro|1448/2326|643/1521|215/506||,C|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|12/30|c.-1554A>C|||||38564|,C|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|12/30|c.-474A>C|||||10821|,C|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000206813|transcript|ENST00000384086|misc_RNA||n.-1A>C|||||4141| 22 42139215 . C T . . ANN=T|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000206813|transcript|ENST00000384086|misc_RNA||n.-1C>T|||||4101|,T|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|12/30|c.1446+17C>T||||||,T|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|12/19|c.666+17C>T||||||,T|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|12/29|c.-1531+17C>T||||||,T|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|12/29|c.-451+17C>T|||||| 22 42141069 . G A . . ANN=A|splice_donor_variant&intron_variant|HIGH|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|13/30|c.1538+1G>A||||||,A|splice_donor_variant&intron_variant|HIGH|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|13/19|c.758+1G>A||||||,A|splice_donor_variant&intron_variant|HIGH|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|13/29|c.-1439+1G>A||||||,A|splice_donor_variant&intron_variant|HIGH|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|13/29|c.-359+1G>A||||||,A|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000206813|transcript|ENST00000384086|misc_RNA||n.-1G>A|||||2247|;LOF=(MEI1|ENSG00000167077|18|0.22) 22 42141111 . G A . . ANN=A|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000206813|transcript|ENST00000384086|misc_RNA||n.-1G>A|||||2205|,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|13/30|c.1538+43G>A||||||,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|13/19|c.758+43G>A||||||,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|13/29|c.-1439+43G>A||||||,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|13/29|c.-359+43G>A|||||| 22 42141117 . G A . . ANN=A|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000206813|transcript|ENST00000384086|misc_RNA||n.-1G>A|||||2199|,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|13/30|c.1538+49G>A||||||,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|13/19|c.758+49G>A||||||,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|13/29|c.-1439+49G>A||||||,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|13/29|c.-359+49G>A|||||| 22 42141871 . C CA . . ANN=A|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000206813|transcript|ENST00000384086|misc_RNA||n.-1_-1insA|||||1444|,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|13/30|c.1539-17dupA||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|13/19|c.759-17dupA||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|13/29|c.-1438-17dupA||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|13/29|c.-358-17dupA||||||INFO_REALIGN_3_PRIME 22 42141949 . C T . . ANN=T|synonymous_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|14/31|c.1599C>T|p.Ser533Ser|1639/4020|1599/3825|533/1274||,T|synonymous_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|14/20|c.819C>T|p.Ser273Ser|1624/2326|819/1521|273/506||,T|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|14/30|c.-1378C>T|||||35790|,T|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|14/30|c.-298C>T|||||8047|,T|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000206813|transcript|ENST00000384086|misc_RNA||n.-1C>T|||||1367| 22 42148633 . G A . . ANN=A|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|16/31|c.1831G>A|p.Ala611Thr|1871/4020|1831/3825|611/1274||,A|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|16/20|c.1051G>A|p.Ala351Thr|1856/2326|1051/1521|351/506||,A|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|16/30|c.-1146G>A|||||29106|,A|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|16/30|c.-66G>A|||||1363|,A|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540880|protein_coding|1/8|c.-118G>A|||||5831|,A|upstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000460702|retained_intron||n.-1G>A|||||954|,A|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000492484|processed_transcript|1/5|n.170G>A||||||,A|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000482055|processed_transcript|1/4|n.126G>A||||||,A|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000476614|processed_transcript|1/5|n.113G>A|||||| 22 42148678 . T C . . ANN=C|upstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000460702|retained_intron||n.-1T>C|||||909|,C|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|16/30|c.1853+23T>C||||||,C|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|16/19|c.1073+23T>C||||||,C|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|16/29|c.-1124+23T>C||||||,C|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|16/29|c.-44+23T>C||||||,C|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000492484|processed_transcript|1/4|n.192+23T>C||||||,C|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000482055|processed_transcript|1/3|n.148+23T>C||||||,C|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540880|protein_coding|1/7|c.-96+23T>C||||||,C|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000476614|processed_transcript|1/4|n.135+23T>C|||||| 22 42148689 . A G . . ANN=G|upstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000460702|retained_intron||n.-1A>G|||||898|,G|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|16/30|c.1853+34A>G||||||,G|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|16/19|c.1073+34A>G||||||,G|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|16/29|c.-1124+34A>G||||||,G|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|16/29|c.-44+34A>G||||||,G|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000492484|processed_transcript|1/4|n.192+34A>G||||||,G|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000482055|processed_transcript|1/3|n.148+34A>G||||||,G|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540880|protein_coding|1/7|c.-96+34A>G||||||,G|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000476614|processed_transcript|1/4|n.135+34A>G|||||| 22 42149910 . T C . . ANN=C|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|16/30|c.1854-43T>C||||||,C|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|16/19|c.1074-43T>C||||||,C|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|16/29|c.-1123-43T>C||||||,C|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|16/29|c.-43-43T>C||||||,C|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000492484|processed_transcript|1/4|n.193-43T>C||||||,C|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000482055|processed_transcript|1/3|n.148+1255T>C||||||,C|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540880|protein_coding|1/7|c.-96+1255T>C||||||,C|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000476614|processed_transcript|1/4|n.136-43T>C||||||,C|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000460702|retained_intron|1/2|n.324T>C|||||| 22 42149991 . A G . . ANN=G|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|17/31|c.1892A>G|p.Tyr631Cys|1932/4020|1892/3825|631/1274||,G|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|17/20|c.1112A>G|p.Tyr371Cys|1917/2326|1112/1521|371/506||,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|17/30|c.-1085A>G||||||,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|17/30|c.-5A>G||||||,G|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|17/30|c.-1085A>G|||||27748|,G|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|17/30|c.-5A>G|||||5|,G|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000482055|processed_transcript|1/3|n.148+1336A>G||||||,G|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540880|protein_coding|1/7|c.-96+1336A>G||||||,G|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000492484|processed_transcript|2/5|n.231A>G||||||,G|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000476614|processed_transcript|2/5|n.174A>G||||||,G|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000460702|retained_intron|1/2|n.405A>G|||||| 22 42154380 . G A . . ANN=A|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|18/31|c.1963G>A|p.Val655Met|2003/4020|1963/3825|655/1274||,A|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|18/20|c.1183G>A|p.Val395Met|1988/2326|1183/1521|395/506||,A|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|18/30|c.67G>A|p.Val23Met|1988/3901|67/1824|23/607||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|18/30|c.-1014G>A||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000540880|protein_coding|2/8|c.-84G>A||||||,A|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|18/30|c.-1014G>A|||||23359|,A|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540880|protein_coding|2/8|c.-84G>A|||||84|,A|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000492484|processed_transcript|3/5|n.302G>A||||||,A|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000482055|processed_transcript|2/4|n.160G>A||||||,A|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000476614|processed_transcript|3/5|n.245G>A||||||,A|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000460702|retained_intron|2/2|n.476G>A|||||| 22 42154386 . G C . . ANN=C|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|18/31|c.1969G>C|p.Glu657Gln|2009/4020|1969/3825|657/1274||,C|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|18/20|c.1189G>C|p.Glu397Gln|1994/2326|1189/1521|397/506||,C|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|18/30|c.73G>C|p.Glu25Gln|1994/3901|73/1824|25/607||,C|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|18/30|c.-1008G>C|||||23353|,C|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540880|protein_coding|2/8|c.-78G>C|||||78|,C|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000492484|processed_transcript|3/5|n.308G>C||||||,C|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000482055|processed_transcript|2/4|n.166G>C||||||,C|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000476614|processed_transcript|3/5|n.251G>C||||||,C|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000460702|retained_intron|2/2|n.482G>C|||||| 22 42154430 . T C . . ANN=C|synonymous_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|18/31|c.2013T>C|p.Pro671Pro|2053/4020|2013/3825|671/1274||,C|synonymous_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|18/20|c.1233T>C|p.Pro411Pro|2038/2326|1233/1521|411/506||,C|synonymous_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|18/30|c.117T>C|p.Pro39Pro|2038/3901|117/1824|39/607||,C|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|18/30|c.-964T>C|||||23309|,C|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540880|protein_coding|2/8|c.-34T>C|||||34|,C|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000492484|processed_transcript|3/5|n.352T>C||||||,C|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000482055|processed_transcript|2/4|n.210T>C||||||,C|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000476614|processed_transcript|3/5|n.295T>C||||||,C|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000460702|retained_intron|2/2|n.526T>C|||||| 22 42154546 . A G . . ANN=G|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000460702|retained_intron||n.*578A>G|||||64|,G|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|18/30|c.2120+9A>G||||||,G|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|18/19|c.1340+9A>G||||||,G|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|18/29|c.-857+9A>G||||||,G|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|18/29|c.224+9A>G||||||,G|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000482055|processed_transcript|2/3|n.317+9A>G||||||,G|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540880|protein_coding|2/7|c.74+9A>G||||||,G|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000476614|processed_transcript|3/4|n.402+9A>G||||||,G|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000492484|processed_transcript|3/5|n.468A>G|||||| 22 42154579 . C A . . ANN=A|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000460702|retained_intron||n.*578C>A|||||97|,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|18/30|c.2120+42C>A||||||,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|18/19|c.1340+42C>A||||||,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|18/29|c.-857+42C>A||||||,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|18/29|c.224+42C>A||||||,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000492484|processed_transcript|3/4|n.473+28C>A||||||,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000482055|processed_transcript|2/3|n.317+42C>A||||||,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540880|protein_coding|2/7|c.74+42C>A||||||,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000476614|processed_transcript|3/4|n.402+42C>A|||||| 22 42159229 . G T . . ANN=T|splice_region_variant&intron_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000492484|processed_transcript|4/4|n.572-7G>T||||||,T|synonymous_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|19/31|c.2172G>T|p.Ser724Ser|2212/4020|2172/3825|724/1274||,T|synonymous_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|19/20|c.1392G>T|p.Ser464Ser|2197/2326|1392/1521|464/506||,T|synonymous_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|19/30|c.276G>T|p.Ser92Ser|2197/3901|276/1824|92/607||,T|synonymous_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000540880|protein_coding|3/8|c.126G>T|p.Ser42Ser|359/1358|126/810|42/269||,T|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|19/30|c.-805G>T|||||18510|,T|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000460702|retained_intron||n.*578G>T|||||4747|,T|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000482055|processed_transcript|3/4|n.369G>T||||||,T|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000476614|processed_transcript|4/5|n.454G>T|||||| 22 42159255 . C T . . ANN=T|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|19/31|c.2198C>T|p.Pro733Leu|2238/4020|2198/3825|733/1274||,T|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|19/20|c.1418C>T|p.Pro473Leu|2223/2326|1418/1521|473/506||,T|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|19/30|c.302C>T|p.Pro101Leu|2223/3901|302/1824|101/607||,T|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000540880|protein_coding|3/8|c.152C>T|p.Pro51Leu|385/1358|152/810|51/269||,T|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|19/30|c.-779C>T|||||18484|,T|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000492484|processed_transcript||n.*589C>T|||||2|,T|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000460702|retained_intron||n.*578C>T|||||4773|,T|TF_binding_site_variant|MODIFIER|||CTCF|MA0139.1|||||||||,T|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000482055|processed_transcript|3/4|n.395C>T||||||,T|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000476614|processed_transcript|4/5|n.480C>T|||||| 22 42159270 . A G . . ANN=G|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|19/31|c.2213A>G|p.Lys738Arg|2253/4020|2213/3825|738/1274||,G|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|19/20|c.1433A>G|p.Lys478Arg|2238/2326|1433/1521|478/506||,G|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|19/30|c.317A>G|p.Lys106Arg|2238/3901|317/1824|106/607||,G|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000540880|protein_coding|3/8|c.167A>G|p.Lys56Arg|400/1358|167/810|56/269||,G|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|19/30|c.-764A>G|||||18469|,G|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000492484|processed_transcript||n.*589A>G|||||17|,G|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000460702|retained_intron||n.*578A>G|||||4788|,G|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000482055|processed_transcript|3/4|n.410A>G||||||,G|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000476614|processed_transcript|4/5|n.495A>G|||||| 22 42159297 . G C . . ANN=C|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|19/31|c.2240G>C|p.Cys747Ser|2280/4020|2240/3825|747/1274||,C|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|19/20|c.1460G>C|p.Cys487Ser|2265/2326|1460/1521|487/506||,C|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|19/30|c.344G>C|p.Cys115Ser|2265/3901|344/1824|115/607||,C|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000540880|protein_coding|3/8|c.194G>C|p.Cys65Ser|427/1358|194/810|65/269||,C|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|19/30|c.-737G>C|||||18442|,C|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000492484|processed_transcript||n.*589G>C|||||44|,C|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000460702|retained_intron||n.*578G>C|||||4815|,C|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000482055|processed_transcript|3/4|n.437G>C||||||,C|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000476614|processed_transcript|4/5|n.522G>C|||||| 22 42166724 . G A . . ANN=A|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|20/31|c.2303G>A|p.Gly768Asp|2343/4020|2303/3825|768/1274||,A|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|20/30|c.407G>A|p.Gly136Asp|2328/3901|407/1824|136/607||,A|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000540880|protein_coding|4/8|c.257G>A|p.Gly86Asp|490/1358|257/810|86/269||,A|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|20/30|c.-674G>A|||||11015|,A|upstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000462246|processed_transcript||n.-1G>A|||||3460|,A|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding||c.*2326G>A|||||3112|,A|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000476614|processed_transcript||n.*571G>A|||||14|,A|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000482055|processed_transcript|4/4|n.500G>A|||||| 22 42166729 . C T . . ANN=T|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|20/31|c.2308C>T|p.Pro770Ser|2348/4020|2308/3825|770/1274||,T|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|20/30|c.412C>T|p.Pro138Ser|2333/3901|412/1824|138/607||,T|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000540880|protein_coding|4/8|c.262C>T|p.Pro88Ser|495/1358|262/810|88/269||,T|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|20/30|c.-669C>T|||||11010|,T|upstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000462246|processed_transcript||n.-1C>T|||||3455|,T|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding||c.*2326C>T|||||3117|,T|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000476614|processed_transcript||n.*571C>T|||||19|,T|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000482055|processed_transcript|4/4|n.505C>T|||||| 22 42166956 . C T . . ANN=T|synonymous_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|20/31|c.2535C>T|p.Leu845Leu|2575/4020|2535/3825|845/1274||,T|synonymous_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|20/30|c.639C>T|p.Leu213Leu|2560/3901|639/1824|213/607||,T|synonymous_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000540880|protein_coding|4/8|c.489C>T|p.Leu163Leu|722/1358|489/810|163/269||,T|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|20/30|c.-442C>T|||||10783|,T|upstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000462246|processed_transcript||n.-1C>T|||||3228|,T|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding||c.*2326C>T|||||3344|,T|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000482055|processed_transcript||n.*589C>T|||||143|,T|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000476614|processed_transcript||n.*571C>T|||||246| 22 42172056 . TC T . . ANN=|upstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000498456|processed_transcript||n.-1delC|||||58|,|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|20/30|c.2545-46delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|20/29|c.-432-46delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|20/29|c.649-46delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540880|protein_coding|4/7|c.499-46delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000462246|processed_transcript|1/4|n.320-46delC||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000473736|retained_intron|1/3|n.10delC||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000462450|retained_intron|1/4|n.8delC||||||INFO_REALIGN_3_PRIME 22 42172080 . C T . . ANN=T|upstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000498456|processed_transcript||n.-1C>T|||||35|,T|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|20/30|c.2545-26C>T||||||,T|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|20/29|c.-432-26C>T||||||,T|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|20/29|c.649-26C>T||||||,T|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540880|protein_coding|4/7|c.499-26C>T||||||,T|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000462246|processed_transcript|1/4|n.320-26C>T||||||,T|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000473736|retained_intron|1/3|n.30C>T||||||,T|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000462450|retained_intron|1/4|n.28C>T|||||| 22 42172118 . T A . . ANN=A|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|21/31|c.2557T>A|p.Ser853Thr|2597/4020|2557/3825|853/1274||,A|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|21/30|c.661T>A|p.Ser221Thr|2582/3901|661/1824|221/607||,A|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000540880|protein_coding|5/8|c.511T>A|p.Ser171Thr|744/1358|511/810|171/269||,A|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|21/30|c.-420T>A|||||5621|,A|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000462246|processed_transcript|2/5|n.332T>A||||||,A|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000473736|retained_intron|1/3|n.68T>A||||||,A|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000462450|retained_intron|1/4|n.66T>A||||||,A|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000498456|processed_transcript|1/5|n.4T>A|||||| 22 42174779 . A G . . ANN=G|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000540880|protein_coding|6/8|c.751A>G|p.Arg251Gly|984/1358|751/810|251/269||,G|synonymous_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|22/31|c.2778A>G|p.Gln926Gln|2818/4020|2778/3825|926/1274||,G|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|22/30|c.-199A>G|||||2960|,G|upstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000487535|processed_transcript||n.-1A>G|||||2576|,G|upstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000476893|processed_transcript||n.-1A>G|||||2624|,G|upstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000484966|processed_transcript||n.-1A>G|||||2671|,G|upstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000403492|protein_coding||c.-1A>G|||||2960|,G|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|21/29|c.814+2508A>G||||||,G|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000462246|processed_transcript|3/5|n.553A>G||||||,G|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000473736|retained_intron|2/3|n.289A>G||||||,G|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000462450|retained_intron|2/4|n.287A>G||||||,G|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000498456|processed_transcript|2/5|n.225A>G|||||| 22 42177317 . A G . . ANN=G|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|23/31|c.2845A>G|p.Thr949Ala|2885/4020|2845/3825|949/1274||,G|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|22/30|c.844A>G|p.Thr282Ala|2765/3901|844/1824|282/607||,G|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|23/30|c.-132A>G|||||422|,G|3_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540880|protein_coding|7/8|c.*73A>G|||||2479|,G|upstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000487535|processed_transcript||n.-1A>G|||||38|,G|upstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000476893|processed_transcript||n.-1A>G|||||86|,G|upstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000484966|processed_transcript||n.-1A>G|||||133|,G|upstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000403492|protein_coding||c.-1A>G|||||422|,G|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000462246|processed_transcript|4/5|n.620A>G||||||,G|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000473736|retained_intron|3/3|n.421A>G||||||,G|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000462450|retained_intron|3/4|n.354A>G||||||,G|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000498456|processed_transcript|3/5|n.357A>G|||||| 22 42177684 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|23/30|c.2927-5G>A||||||,A|splice_region_variant&intron_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|23/29|c.-50-5G>A||||||,A|splice_region_variant&intron_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|22/29|c.926-5G>A||||||,A|splice_region_variant&intron_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000540880|protein_coding|7/7|c.*155-5G>A||||||,A|splice_region_variant&intron_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000462246|processed_transcript|4/4|n.702-5G>A||||||,A|splice_region_variant&intron_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000462450|retained_intron|3/3|n.436-5G>A||||||,A|splice_region_variant&intron_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000498456|processed_transcript|3/4|n.439-5G>A||||||,A|upstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000403492|protein_coding||c.-1G>A|||||55|,A|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000473736|retained_intron||n.*471G>A|||||317|,A|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000487535|processed_transcript|1/6|n.330G>A||||||,A|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000476893|processed_transcript|1/8|n.282G>A||||||,A|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000484966|processed_transcript|1/6|n.235G>A|||||| 22 42177816 . C A . . ANN=A|synonymous_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|24/31|c.3054C>A|p.Ser1018Ser|3094/4020|3054/3825|1018/1274||,A|synonymous_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|24/30|c.78C>A|p.Ser26Ser|3079/3874|78/717|26/238||,A|synonymous_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|23/30|c.1053C>A|p.Ser351Ser|2974/3901|1053/1824|351/607||,A|synonymous_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000403492|protein_coding|1/7|c.78C>A|p.Ser26Ser|78/874|78/717|26/238||,A|3_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540880|protein_coding|8/8|c.*282C>A|||||2978|,A|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000462246|processed_transcript||n.*754C>A|||||75|,A|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000473736|retained_intron||n.*471C>A|||||449|,A|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000462450|retained_intron|4/4|n.563C>A||||||,A|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000498456|processed_transcript|4/5|n.566C>A||||||,A|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000487535|processed_transcript|1/6|n.462C>A||||||,A|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000476893|processed_transcript|1/8|n.414C>A||||||,A|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000484966|processed_transcript|1/6|n.367C>A|||||| 22 42177822 . T C . . ANN=C|synonymous_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|24/31|c.3060T>C|p.Ser1020Ser|3100/4020|3060/3825|1020/1274||,C|synonymous_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|24/30|c.84T>C|p.Ser28Ser|3085/3874|84/717|28/238||,C|synonymous_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|23/30|c.1059T>C|p.Ser353Ser|2980/3901|1059/1824|353/607||,C|synonymous_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000403492|protein_coding|1/7|c.84T>C|p.Ser28Ser|84/874|84/717|28/238||,C|3_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540880|protein_coding|8/8|c.*288T>C|||||2984|,C|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000462246|processed_transcript||n.*754T>C|||||81|,C|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000473736|retained_intron||n.*471T>C|||||455|,C|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000462450|retained_intron|4/4|n.569T>C||||||,C|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000498456|processed_transcript|4/5|n.572T>C||||||,C|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000487535|processed_transcript|1/6|n.468T>C||||||,C|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000476893|processed_transcript|1/8|n.420T>C||||||,C|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000484966|processed_transcript|1/6|n.373T>C|||||| 22 42177825 . C T . . ANN=T|synonymous_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|24/31|c.3063C>T|p.Ala1021Ala|3103/4020|3063/3825|1021/1274||,T|synonymous_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|24/30|c.87C>T|p.Ala29Ala|3088/3874|87/717|29/238||,T|synonymous_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|23/30|c.1062C>T|p.Ala354Ala|2983/3901|1062/1824|354/607||,T|synonymous_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000403492|protein_coding|1/7|c.87C>T|p.Ala29Ala|87/874|87/717|29/238||,T|3_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540880|protein_coding|8/8|c.*291C>T|||||2987|,T|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000462246|processed_transcript||n.*754C>T|||||84|,T|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000473736|retained_intron||n.*471C>T|||||458|,T|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000462450|retained_intron|4/4|n.572C>T||||||,T|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000498456|processed_transcript|4/5|n.575C>T||||||,T|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000487535|processed_transcript|1/6|n.471C>T||||||,T|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000476893|processed_transcript|1/8|n.423C>T||||||,T|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000484966|processed_transcript|1/6|n.376C>T|||||| 22 42177841 . A G . . ANN=G|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|24/31|c.3079A>G|p.Ser1027Gly|3119/4020|3079/3825|1027/1274||,G|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|24/30|c.103A>G|p.Ser35Gly|3104/3874|103/717|35/238||,G|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|23/30|c.1078A>G|p.Ser360Gly|2999/3901|1078/1824|360/607||,G|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000403492|protein_coding|1/7|c.103A>G|p.Ser35Gly|103/874|103/717|35/238||,G|3_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540880|protein_coding|8/8|c.*307A>G|||||3003|,G|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000462246|processed_transcript||n.*754A>G|||||100|,G|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000473736|retained_intron||n.*471A>G|||||474|,G|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000462450|retained_intron||n.*575A>G|||||13|,G|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000498456|processed_transcript|4/5|n.591A>G||||||,G|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000487535|processed_transcript|1/6|n.487A>G||||||,G|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000476893|processed_transcript|1/8|n.439A>G||||||,G|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000484966|processed_transcript|1/6|n.392A>G|||||| 22 42177899 . A G . . ANN=G|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540880|protein_coding||c.*1043A>G|||||50|,G|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000462246|processed_transcript||n.*754A>G|||||158|,G|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000473736|retained_intron||n.*471A>G|||||532|,G|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000462450|retained_intron||n.*575A>G|||||71|,G|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|24/30|c.3087+50A>G||||||,G|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|24/29|c.111+50A>G||||||,G|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|23/29|c.1086+50A>G||||||,G|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000498456|processed_transcript|4/4|n.599+50A>G||||||,G|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000487535|processed_transcript|1/5|n.495+50A>G||||||,G|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000476893|processed_transcript|1/7|n.447+50A>G||||||,G|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000484966|processed_transcript|1/5|n.400+50A>G||||||,G|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000403492|protein_coding|1/6|c.111+50A>G|||||| 22 42180400 . A G . . ANN=G|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|25/31|c.3145A>G|p.Lys1049Glu|3185/4020|3145/3825|1049/1274||,G|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|25/30|c.169A>G|p.Lys57Glu|3170/3874|169/717|57/238||,G|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|24/30|c.1144A>G|p.Lys382Glu|3065/3901|1144/1824|382/607||,G|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000403492|protein_coding|2/7|c.169A>G|p.Lys57Glu|169/874|169/717|57/238||,G|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540880|protein_coding||c.*1043A>G|||||2551|,G|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000462246|processed_transcript||n.*754A>G|||||2659|,G|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000473736|retained_intron||n.*471A>G|||||3033|,G|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000462450|retained_intron||n.*575A>G|||||2572|,G|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000498456|processed_transcript||n.*621A>G|||||36|,G|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000487535|processed_transcript|1/5|n.495+2551A>G||||||,G|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000476893|processed_transcript|2/8|n.505A>G||||||,G|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000484966|processed_transcript|2/6|n.458A>G|||||| 22 42180441 . C A . . ANN=A|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540880|protein_coding||c.*1043C>A|||||2592|,A|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000462246|processed_transcript||n.*754C>A|||||2700|,A|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000473736|retained_intron||n.*471C>A|||||3074|,A|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000462450|retained_intron||n.*575C>A|||||2613|,A|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000498456|processed_transcript||n.*621C>A|||||77|,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|25/30|c.3169+17C>A||||||,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|25/29|c.193+17C>A||||||,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|24/29|c.1168+17C>A||||||,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000487535|processed_transcript|1/5|n.495+2592C>A||||||,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000476893|processed_transcript|2/7|n.529+17C>A||||||,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000484966|processed_transcript|2/5|n.482+17C>A||||||,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000403492|protein_coding|2/6|c.193+17C>A|||||| 22 42180458 . C T . . ANN=T|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540880|protein_coding||c.*1043C>T|||||2609|,T|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000462246|processed_transcript||n.*754C>T|||||2717|,T|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000473736|retained_intron||n.*471C>T|||||3091|,T|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000462450|retained_intron||n.*575C>T|||||2630|,T|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000498456|processed_transcript||n.*621C>T|||||94|,T|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|25/30|c.3169+34C>T||||||,T|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|25/29|c.193+34C>T||||||,T|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|24/29|c.1168+34C>T||||||,T|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000487535|processed_transcript|1/5|n.495+2609C>T||||||,T|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000476893|processed_transcript|2/7|n.529+34C>T||||||,T|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000484966|processed_transcript|2/5|n.482+34C>T||||||,T|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000403492|protein_coding|2/6|c.193+34C>T|||||| 22 42180584 . T C . . ANN=C|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540880|protein_coding||c.*1043T>C|||||2735|,C|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000462246|processed_transcript||n.*754T>C|||||2843|,C|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000473736|retained_intron||n.*471T>C|||||3217|,C|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000462450|retained_intron||n.*575T>C|||||2756|,C|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000498456|processed_transcript||n.*621T>C|||||220|,C|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|25/30|c.3170-28T>C||||||,C|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|25/29|c.194-28T>C||||||,C|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|24/29|c.1169-28T>C||||||,C|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000487535|processed_transcript|1/5|n.495+2735T>C||||||,C|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000476893|processed_transcript|2/7|n.530-28T>C||||||,C|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000484966|processed_transcript|2/5|n.482+160T>C||||||,C|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000403492|protein_coding|2/6|c.194-28T>C|||||| 22 42180679 . G A . . ANN=A|synonymous_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|26/31|c.3237G>A|p.Val1079Val|3277/4020|3237/3825|1079/1274||,A|synonymous_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|26/30|c.261G>A|p.Val87Val|3262/3874|261/717|87/238||,A|synonymous_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|25/30|c.1236G>A|p.Val412Val|3157/3901|1236/1824|412/607||,A|synonymous_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000403492|protein_coding|3/7|c.261G>A|p.Val87Val|261/874|261/717|87/238||,A|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540880|protein_coding||c.*1043G>A|||||2830|,A|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000462246|processed_transcript||n.*754G>A|||||2938|,A|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000473736|retained_intron||n.*471G>A|||||3312|,A|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000462450|retained_intron||n.*575G>A|||||2851|,A|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000498456|processed_transcript||n.*621G>A|||||315|,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000487535|processed_transcript|1/5|n.495+2830G>A||||||,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000484966|processed_transcript|2/5|n.482+255G>A||||||,A|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000476893|processed_transcript|3/8|n.597G>A|||||| 22 42189810 . A AT . . ANN=T|splice_region_variant&intron_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|26/30|c.3346-7dupT||||||INFO_REALIGN_3_PRIME,T|splice_region_variant&intron_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|26/29|c.370-7dupT||||||INFO_REALIGN_3_PRIME,T|splice_region_variant&intron_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|25/29|c.1345-7dupT||||||INFO_REALIGN_3_PRIME,T|splice_region_variant&intron_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000487535|processed_transcript|1/5|n.496-7dupT||||||INFO_REALIGN_3_PRIME,T|splice_region_variant&intron_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000476893|processed_transcript|3/7|n.706-7dupT||||||INFO_REALIGN_3_PRIME,T|splice_region_variant&intron_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000484966|processed_transcript|2/5|n.483-7dupT||||||INFO_REALIGN_3_PRIME,T|splice_region_variant&intron_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000403492|protein_coding|3/6|c.370-7dupT||||||INFO_REALIGN_3_PRIME,T|upstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000423900|protein_coding||c.-2_-2insT|||||1615|WARNING_TRANSCRIPT_NO_START_CODON 22 42190388 . C T . . ANN=T|synonymous_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|28/31|c.3441C>T|p.Ala1147Ala|3481/4020|3441/3825|1147/1274||,T|synonymous_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|28/30|c.465C>T|p.Ala155Ala|3466/3874|465/717|155/238||,T|synonymous_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|27/30|c.1440C>T|p.Ala480Ala|3361/3901|1440/1824|480/607||,T|synonymous_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000403492|protein_coding|5/7|c.465C>T|p.Ala155Ala|465/874|465/717|155/238||,T|upstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000423900|protein_coding||c.-2C>T|||||1038|WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000487535|processed_transcript|3/6|n.591C>T||||||,T|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000476893|processed_transcript|5/8|n.801C>T||||||,T|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000484966|processed_transcript|4/6|n.578C>T|||||| 22 42191507 . G A . . ANN=A|synonymous_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|29/31|c.3627G>A|p.Ser1209Ser|3667/4020|3627/3825|1209/1274||,A|synonymous_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|28/30|c.1626G>A|p.Ser542Ser|3547/3901|1626/1824|542/607||,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|28/29|c.559-232G>A||||||,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000403492|protein_coding|5/6|c.559-232G>A||||||,A|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000423900|protein_coding|1/2|c.30+51G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000487535|processed_transcript|4/6|n.777G>A||||||,A|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000476893|processed_transcript|6/8|n.987G>A||||||,A|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000484966|processed_transcript|5/6|n.764G>A|||||| 22 42191540 . C T . . ANN=T|synonymous_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|29/31|c.3660C>T|p.Phe1220Phe|3700/4020|3660/3825|1220/1274||,T|synonymous_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|28/30|c.1659C>T|p.Phe553Phe|3580/3901|1659/1824|553/607||,T|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|28/29|c.559-199C>T||||||,T|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000403492|protein_coding|5/6|c.559-199C>T||||||,T|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000423900|protein_coding|1/2|c.30+84C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000487535|processed_transcript|4/6|n.810C>T||||||,T|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000476893|processed_transcript|6/8|n.1020C>T||||||,T|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000484966|processed_transcript|5/6|n.797C>T|||||| 22 42191798 . G A . . ANN=A|synonymous_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|30/31|c.3726G>A|p.Leu1242Leu|3766/4020|3726/3825|1242/1274||,A|synonymous_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|29/30|c.618G>A|p.Leu206Leu|3619/3874|618/717|206/238||,A|synonymous_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|29/30|c.1725G>A|p.Leu575Leu|3646/3901|1725/1824|575/607||,A|synonymous_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000403492|protein_coding|6/7|c.618G>A|p.Leu206Leu|618/874|618/717|206/238||,A|synonymous_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000423900|protein_coding|2/3|c.90G>A|p.Leu30Leu|91/346|90/189|30/62||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|CCDC134|ENSG00000100147|transcript|ENST00000255784|protein_coding||c.-105G>A|||||4885|,A|upstream_gene_variant|MODIFIER|CCDC134|ENSG00000100147|transcript|ENST00000402061|protein_coding||c.-105G>A|||||4885|,A|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000484966|processed_transcript||n.*842G>A|||||21|,A|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000487535|processed_transcript|5/6|n.876G>A||||||,A|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000476893|processed_transcript|7/8|n.1086G>A|||||| 22 42191844 . G T . . ANN=T|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|30/31|c.3772G>T|p.Asp1258Tyr|3812/4020|3772/3825|1258/1274||,T|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|29/30|c.664G>T|p.Asp222Tyr|3665/3874|664/717|222/238||,T|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|29/30|c.1771G>T|p.Asp591Tyr|3692/3901|1771/1824|591/607||,T|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000403492|protein_coding|6/7|c.664G>T|p.Asp222Tyr|664/874|664/717|222/238||,T|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000423900|protein_coding|2/3|c.136G>T|p.Asp46Tyr|137/346|136/189|46/62||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|CCDC134|ENSG00000100147|transcript|ENST00000255784|protein_coding||c.-105G>T|||||4839|,T|upstream_gene_variant|MODIFIER|CCDC134|ENSG00000100147|transcript|ENST00000402061|protein_coding||c.-105G>T|||||4839|,T|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000484966|processed_transcript||n.*842G>T|||||67|,T|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000487535|processed_transcript|5/6|n.922G>T||||||,T|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000476893|processed_transcript|7/8|n.1132G>T|||||| 22 42195237 . C T . . ANN=T|upstream_gene_variant|MODIFIER|CCDC134|ENSG00000100147|transcript|ENST00000255784|protein_coding||c.-105C>T|||||1446|,T|upstream_gene_variant|MODIFIER|CCDC134|ENSG00000100147|transcript|ENST00000402061|protein_coding||c.-105C>T|||||1446|,T|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000484966|processed_transcript||n.*842C>T|||||3460|,T|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|30/30|c.3780-21C>T||||||,T|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|29/29|c.672-21C>T||||||,T|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|29/29|c.1779-21C>T||||||,T|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000487535|processed_transcript|5/5|n.930-21C>T||||||,T|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000476893|processed_transcript|7/7|n.1140-21C>T||||||,T|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000403492|protein_coding|6/6|c.672-21C>T||||||,T|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000423900|protein_coding|2/2|c.144-21C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 42195324 . A G . . ANN=G|3_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|31/31|c.*21A>G|||||21|,G|3_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|30/30|c.*21A>G|||||21|,G|3_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|30/30|c.*21A>G|||||21|,G|3_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000403492|protein_coding|7/7|c.*21A>G|||||21|,G|3_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000423900|protein_coding|3/3|c.*21A>G|||||21|WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|CCDC134|ENSG00000100147|transcript|ENST00000255784|protein_coding||c.-105A>G|||||1359|,G|upstream_gene_variant|MODIFIER|CCDC134|ENSG00000100147|transcript|ENST00000402061|protein_coding||c.-105A>G|||||1359|,G|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000476893|processed_transcript||n.*1191A>G|||||15|,G|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000484966|processed_transcript||n.*842A>G|||||3547|,G|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000487535|processed_transcript|6/6|n.996A>G|||||| 22 42195345 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|31/31|c.*42C>T|||||42|,T|3_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|30/30|c.*42C>T|||||42|,T|3_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|30/30|c.*42C>T|||||42|,T|3_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000403492|protein_coding|7/7|c.*42C>T|||||42|,T|3_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000423900|protein_coding|3/3|c.*42C>T|||||42|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|CCDC134|ENSG00000100147|transcript|ENST00000255784|protein_coding||c.-105C>T|||||1338|,T|upstream_gene_variant|MODIFIER|CCDC134|ENSG00000100147|transcript|ENST00000402061|protein_coding||c.-105C>T|||||1338|,T|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000487535|processed_transcript||n.*1016C>T|||||1|,T|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000476893|processed_transcript||n.*1191C>T|||||36|,T|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000484966|processed_transcript||n.*842C>T|||||3568| 22 42204854 . C T . . ANN=T|intron_variant|MODIFIER|CCDC134|ENSG00000100147|transcript|ENST00000255784|protein_coding|1/6|c.-16-25C>T||||||,T|intron_variant|MODIFIER|CCDC134|ENSG00000100147|transcript|ENST00000402061|protein_coding|1/3|c.-16-25C>T|||||| 22 42204918 . C A . . ANN=A|synonymous_variant|LOW|CCDC134|ENSG00000100147|transcript|ENST00000255784|protein_coding|2/7|c.24C>A|p.Ala8Ala|128/1270|24/690|8/229||,A|synonymous_variant|LOW|CCDC134|ENSG00000100147|transcript|ENST00000402061|protein_coding|2/4|c.24C>A|p.Ala8Ala|128/525|24/351|8/116||,A|sequence_feature|LOW|CCDC134|ENSG00000100147|signal_peptide|ENST00000255784|protein_coding|2/7|c.24C>A|||||| 22 42204946 . A T . . ANN=T|missense_variant|MODERATE|CCDC134|ENSG00000100147|transcript|ENST00000255784|protein_coding|2/7|c.52A>T|p.Met18Leu|156/1270|52/690|18/229||,T|missense_variant|MODERATE|CCDC134|ENSG00000100147|transcript|ENST00000402061|protein_coding|2/4|c.52A>T|p.Met18Leu|156/525|52/351|18/116||,T|sequence_feature|LOW|CCDC134|ENSG00000100147|signal_peptide|ENST00000255784|protein_coding|2/7|c.52A>T|||||| 22 42205043 . T C . . ANN=C|intron_variant|MODIFIER|CCDC134|ENSG00000100147|transcript|ENST00000255784|protein_coding|2/6|c.103+46T>C||||||,C|intron_variant|MODIFIER|CCDC134|ENSG00000100147|transcript|ENST00000402061|protein_coding|2/3|c.103+46T>C|||||| 22 42205863 . C T . . ANN=T|intron_variant|MODIFIER|CCDC134|ENSG00000100147|transcript|ENST00000255784|protein_coding|2/6|c.104-20C>T||||||,T|intron_variant|MODIFIER|CCDC134|ENSG00000100147|transcript|ENST00000402061|protein_coding|2/3|c.104-20C>T|||||| 22 42205957 . C T . . ANN=T|missense_variant|MODERATE|CCDC134|ENSG00000100147|transcript|ENST00000255784|protein_coding|3/7|c.178C>T|p.His60Tyr|282/1270|178/690|60/229||,T|missense_variant|MODERATE|CCDC134|ENSG00000100147|transcript|ENST00000402061|protein_coding|3/4|c.178C>T|p.His60Tyr|282/525|178/351|60/116|| 22 42206019 . G A . . ANN=A|intron_variant|MODIFIER|CCDC134|ENSG00000100147|transcript|ENST00000255784|protein_coding|3/6|c.225+15G>A||||||,A|intron_variant|MODIFIER|CCDC134|ENSG00000100147|transcript|ENST00000402061|protein_coding|3/3|c.225+15G>A|||||| 22 42206050 . C T . . ANN=T|intron_variant|MODIFIER|CCDC134|ENSG00000100147|transcript|ENST00000255784|protein_coding|3/6|c.225+46C>T||||||,T|intron_variant|MODIFIER|CCDC134|ENSG00000100147|transcript|ENST00000402061|protein_coding|3/3|c.225+46C>T|||||| 22 42206280 . G A . . ANN=A|missense_variant|MODERATE|CCDC134|ENSG00000100147|transcript|ENST00000255784|protein_coding|4/7|c.295G>A|p.Glu99Lys|399/1270|295/690|99/229||,A|intron_variant|MODIFIER|CCDC134|ENSG00000100147|transcript|ENST00000402061|protein_coding|3/3|c.225+276G>A|||||| 22 42206303 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|CCDC134|ENSG00000100147|transcript|ENST00000255784|protein_coding|4/6|c.310+8C>T||||||,T|intron_variant|MODIFIER|CCDC134|ENSG00000100147|transcript|ENST00000402061|protein_coding|3/3|c.225+299C>T|||||| 22 42209251 . C A . . ANN=A|intron_variant|MODIFIER|CCDC134|ENSG00000100147|transcript|ENST00000255784|protein_coding|4/6|c.311-17C>A||||||,A|intron_variant|MODIFIER|CCDC134|ENSG00000100147|transcript|ENST00000402061|protein_coding|3/3|c.225+3247C>A|||||| 22 42209258 . C T . . ANN=T|intron_variant|MODIFIER|CCDC134|ENSG00000100147|transcript|ENST00000255784|protein_coding|4/6|c.311-10C>T||||||,T|intron_variant|MODIFIER|CCDC134|ENSG00000100147|transcript|ENST00000402061|protein_coding|3/3|c.225+3254C>T|||||| 22 42209279 . G A . . ANN=A|missense_variant|MODERATE|CCDC134|ENSG00000100147|transcript|ENST00000255784|protein_coding|5/7|c.322G>A|p.Val108Met|426/1270|322/690|108/229||,A|intron_variant|MODIFIER|CCDC134|ENSG00000100147|transcript|ENST00000402061|protein_coding|3/3|c.225+3275G>A|||||| 22 42209326 . G A . . ANN=A|synonymous_variant|LOW|CCDC134|ENSG00000100147|transcript|ENST00000255784|protein_coding|5/7|c.369G>A|p.Pro123Pro|473/1270|369/690|123/229||,A|intron_variant|MODIFIER|CCDC134|ENSG00000100147|transcript|ENST00000402061|protein_coding|3/3|c.225+3322G>A|||||| 22 42209356 . C T . . ANN=T|synonymous_variant|LOW|CCDC134|ENSG00000100147|transcript|ENST00000255784|protein_coding|5/7|c.399C>T|p.Asn133Asn|503/1270|399/690|133/229||,T|intron_variant|MODIFIER|CCDC134|ENSG00000100147|transcript|ENST00000402061|protein_coding|3/3|c.225+3352C>T|||||| 22 42209418 . A G . . ANN=G|missense_variant|MODERATE|CCDC134|ENSG00000100147|transcript|ENST00000255784|protein_coding|5/7|c.461A>G|p.Asn154Ser|565/1270|461/690|154/229||,G|intron_variant|MODIFIER|CCDC134|ENSG00000100147|transcript|ENST00000402061|protein_coding|3/3|c.225+3414A>G|||||| 22 42221714 . A G . . ANN=G|missense_variant|MODERATE|CCDC134|ENSG00000100147|transcript|ENST00000255784|protein_coding|7/7|c.577A>G|p.Thr193Ala|681/1270|577/690|193/229||,G|missense_variant|MODERATE|CCDC134|ENSG00000100147|transcript|ENST00000402061|protein_coding|4/4|c.238A>G|p.Thr80Ala|342/525|238/351|80/116||,G|sequence_feature|LOW|CCDC134|ENSG00000100147|glycosylation_site:O-linked__GalNAc..._|ENST00000255784|protein_coding|7/7|c.577A>G|||||| 22 42221786 . C T . . ANN=T|stop_gained|HIGH|CCDC134|ENSG00000100147|transcript|ENST00000255784|protein_coding|7/7|c.649C>T|p.Arg217*|753/1270|649/690|217/229||,T|stop_gained|HIGH|CCDC134|ENSG00000100147|transcript|ENST00000402061|protein_coding|4/4|c.310C>T|p.Arg104*|414/525|310/351|104/116||,T|sequence_feature|LOW|CCDC134|ENSG00000100147|coiled-coil_region|ENST00000255784|protein_coding|7/7|c.649C>T||||||,T|sequence_feature|LOW|CCDC134|ENSG00000100147|compositionally_biased_region:Arg/Glu/Lys-rich__mixed_charge_|ENST00000255784|protein_coding|7/7|c.649C>T|||||| 22 42221808 . G A . . ANN=A|missense_variant|MODERATE|CCDC134|ENSG00000100147|transcript|ENST00000255784|protein_coding|7/7|c.671G>A|p.Arg224Lys|775/1270|671/690|224/229||,A|missense_variant|MODERATE|CCDC134|ENSG00000100147|transcript|ENST00000402061|protein_coding|4/4|c.332G>A|p.Arg111Lys|436/525|332/351|111/116|| 22 42221811 . C T . . ANN=T|missense_variant|MODERATE|CCDC134|ENSG00000100147|transcript|ENST00000255784|protein_coding|7/7|c.674C>T|p.Ser225Phe|778/1270|674/690|225/229||,T|missense_variant|MODERATE|CCDC134|ENSG00000100147|transcript|ENST00000402061|protein_coding|4/4|c.335C>T|p.Ser112Phe|439/525|335/351|112/116|| 22 42221836 . C A . . ANN=A|3_prime_UTR_variant|MODIFIER|CCDC134|ENSG00000100147|transcript|ENST00000255784|protein_coding|7/7|c.*9C>A|||||9|,A|3_prime_UTR_variant|MODIFIER|CCDC134|ENSG00000100147|transcript|ENST00000402061|protein_coding|4/4|c.*9C>A|||||9| 22 42221846 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|CCDC134|ENSG00000100147|transcript|ENST00000255784|protein_coding|7/7|c.*19C>T|||||19|,T|3_prime_UTR_variant|MODIFIER|CCDC134|ENSG00000100147|transcript|ENST00000402061|protein_coding|4/4|c.*19C>T|||||19| 22 42229249 . G T . . ANN=T|5_prime_UTR_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|1/19|c.-26G>T|||||26|,T|5_prime_UTR_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|1/22|n.-26G>T|||||26|,T|non_coding_exon_variant|MODIFIER|RP5-821D11.7|ENSG00000184068|transcript|ENST00000333487|antisense|2/2|n.959C>A||||||,T|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|1/22|n.-26G>T|||||| 22 42262921 . G A . . ANN=A|missense_variant|MODERATE|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|2/19|c.175G>A|p.Gly59Ser|341/5240|175/3426|59/1141||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|2/19|c.175G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|8/19|c.175G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|1/19|c.175G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|4/19|c.175G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|7/19|c.175G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|5/19|c.175G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|3/19|c.175G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|6/19|c.175G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|compositionally_biased_region:Gly/Pro/Ser-rich|ENST00000361204|protein_coding|2/19|c.175G>A||||||,A|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|2/22|n.175G>A|||||| 22 42262930 . AGCAGCAGCG A . . ANN=|disruptive_inframe_deletion|MODERATE|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|2/19|c.192_200delCGGCAGCAG|p.Gly65_Ser67del|358/5240|192/3426|64/1141||INFO_REALIGN_3_PRIME,|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|2/19|c.185_193delGCAGCAGCG||||||,|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|8/19|c.185_193delGCAGCAGCG||||||,|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|1/19|c.185_193delGCAGCAGCG||||||,|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|4/19|c.185_193delGCAGCAGCG||||||,|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|7/19|c.185_193delGCAGCAGCG||||||,|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|5/19|c.185_193delGCAGCAGCG||||||,|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|3/19|c.185_193delGCAGCAGCG||||||,|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|6/19|c.185_193delGCAGCAGCG||||||,|sequence_feature|LOW|SREBF2|ENSG00000198911|compositionally_biased_region:Gly/Pro/Ser-rich|ENST00000361204|protein_coding|2/19|c.185_193delGCAGCAGCG||||||,|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|2/22|n.192_200delCGGCAGCAG||||||INFO_REALIGN_3_PRIME 22 42263050 . C G . . ANN=G|missense_variant|MODERATE|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|2/19|c.304C>G|p.Pro102Ala|470/5240|304/3426|102/1141||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|2/19|c.304C>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|8/19|c.304C>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|1/19|c.304C>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|4/19|c.304C>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|7/19|c.304C>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|5/19|c.304C>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|3/19|c.304C>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|6/19|c.304C>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|compositionally_biased_region:Gly/Pro/Ser-rich|ENST00000361204|protein_coding|2/19|c.304C>G||||||,G|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|2/22|n.304C>G|||||| 22 42263112 . C A . . ANN=A|synonymous_variant|LOW|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|2/19|c.366C>A|p.Pro122Pro|532/5240|366/3426|122/1141||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|2/19|c.366C>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|8/19|c.366C>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|1/19|c.366C>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|4/19|c.366C>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|7/19|c.366C>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|5/19|c.366C>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|3/19|c.366C>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|6/19|c.366C>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|compositionally_biased_region:Gly/Pro/Ser-rich|ENST00000361204|protein_coding|2/19|c.366C>A||||||,A|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|2/22|n.366C>A|||||| 22 42264726 . A C . . ANN=C|missense_variant|MODERATE|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|3/19|c.650A>C|p.Asn217Thr|816/5240|650/3426|217/1141||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|2/19|c.650A>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|8/19|c.650A>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|1/19|c.650A>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|4/19|c.650A>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|7/19|c.650A>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|5/19|c.650A>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|3/19|c.650A>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|6/19|c.650A>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|compositionally_biased_region:Gln-rich|ENST00000361204|protein_coding|2/19|c.650A>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|compositionally_biased_region:Gln-rich|ENST00000361204|protein_coding|4/19|c.650A>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|compositionally_biased_region:Gln-rich|ENST00000361204|protein_coding|3/19|c.650A>C||||||,C|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000462539|retained_intron||n.-1A>C|||||4967|,C|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|3/22|n.650A>C|||||| 22 42264732 . C T . . ANN=T|missense_variant|MODERATE|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|3/19|c.656C>T|p.Thr219Met|822/5240|656/3426|219/1141||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|2/19|c.656C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|8/19|c.656C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|1/19|c.656C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|4/19|c.656C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|7/19|c.656C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|5/19|c.656C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|3/19|c.656C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|6/19|c.656C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|compositionally_biased_region:Gln-rich|ENST00000361204|protein_coding|2/19|c.656C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|compositionally_biased_region:Gln-rich|ENST00000361204|protein_coding|4/19|c.656C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|compositionally_biased_region:Gln-rich|ENST00000361204|protein_coding|3/19|c.656C>T||||||,T|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000462539|retained_intron||n.-1C>T|||||4961|,T|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|3/22|n.656C>T|||||| 22 42264751 . G A . . ANN=A|synonymous_variant|LOW|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|3/19|c.675G>A|p.Pro225Pro|841/5240|675/3426|225/1141||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|2/19|c.675G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|8/19|c.675G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|1/19|c.675G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|4/19|c.675G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|7/19|c.675G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|5/19|c.675G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|3/19|c.675G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|6/19|c.675G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|compositionally_biased_region:Gln-rich|ENST00000361204|protein_coding|2/19|c.675G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|compositionally_biased_region:Gln-rich|ENST00000361204|protein_coding|4/19|c.675G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|compositionally_biased_region:Gln-rich|ENST00000361204|protein_coding|3/19|c.675G>A||||||,A|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000462539|retained_intron||n.-1G>A|||||4942|,A|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|3/22|n.675G>A|||||| 22 42264775 . G A . . ANN=A|synonymous_variant|LOW|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|3/19|c.699G>A|p.Ala233Ala|865/5240|699/3426|233/1141||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|2/19|c.699G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|8/19|c.699G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|1/19|c.699G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|4/19|c.699G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|7/19|c.699G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|5/19|c.699G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|3/19|c.699G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|6/19|c.699G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|compositionally_biased_region:Gln-rich|ENST00000361204|protein_coding|2/19|c.699G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|compositionally_biased_region:Gln-rich|ENST00000361204|protein_coding|4/19|c.699G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|compositionally_biased_region:Gln-rich|ENST00000361204|protein_coding|3/19|c.699G>A||||||,A|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000462539|retained_intron||n.-1G>A|||||4918|,A|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|3/22|n.699G>A|||||| 22 42264796 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|3/19|c.720G>A|p.Pro240Pro|886/5240|720/3426|240/1141||,A|splice_region_variant&non_coding_exon_variant|LOW|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|3/22|n.720G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|2/19|c.720G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|8/19|c.720G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|1/19|c.720G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|4/19|c.720G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|7/19|c.720G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|5/19|c.720G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|3/19|c.720G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|6/19|c.720G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|compositionally_biased_region:Gln-rich|ENST00000361204|protein_coding|2/19|c.720G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|compositionally_biased_region:Gln-rich|ENST00000361204|protein_coding|4/19|c.720G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|compositionally_biased_region:Gln-rich|ENST00000361204|protein_coding|3/19|c.720G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|8/19|c.720G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|4/19|c.720G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|7/19|c.720G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|5/19|c.720G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|3/19|c.720G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|6/19|c.720G>A||||||,A|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000462539|retained_intron||n.-1G>A|||||4897| 22 42266992 . C T . . ANN=T|missense_variant|MODERATE|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|4/19|c.820C>T|p.Leu274Phe|986/5240|820/3426|274/1141||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|2/19|c.820C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|8/19|c.820C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|1/19|c.820C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|4/19|c.820C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|7/19|c.820C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|5/19|c.820C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|3/19|c.820C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|6/19|c.820C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|8/19|c.820C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|4/19|c.820C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|7/19|c.820C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|5/19|c.820C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|3/19|c.820C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|6/19|c.820C>T||||||,T|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000462539|retained_intron||n.-1C>T|||||2701|,T|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000464119|retained_intron||n.-1C>T|||||4443|,T|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|4/22|n.820C>T|||||| 22 42267054 . C T . . ANN=T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|2/19|c.867+15C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|8/19|c.867+15C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|1/19|c.867+15C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|4/19|c.867+15C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|7/19|c.867+15C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|5/19|c.867+15C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|3/19|c.867+15C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|6/19|c.867+15C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|8/19|c.867+15C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|4/19|c.867+15C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|7/19|c.867+15C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|5/19|c.867+15C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|3/19|c.867+15C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|6/19|c.867+15C>T||||||,T|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000462539|retained_intron||n.-1C>T|||||2639|,T|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000464119|retained_intron||n.-1C>T|||||4381|,T|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|4/18|c.867+15C>T||||||,T|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|4/21|n.867+15C>T|||||| 22 42269767 . G A . . ANN=A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|2/19|c.868-35G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|8/19|c.868-35G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|1/19|c.868-35G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|4/19|c.868-35G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|7/19|c.868-35G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|5/19|c.868-35G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|3/19|c.868-35G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|6/19|c.868-35G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|8/19|c.868-35G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|4/19|c.868-35G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|7/19|c.868-35G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|5/19|c.868-35G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|3/19|c.868-35G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|6/19|c.868-35G>A||||||,A|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000464119|retained_intron||n.-1G>A|||||1668|,A|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|4/18|c.868-35G>A||||||,A|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|4/21|n.868-35G>A||||||,A|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000462539|retained_intron|1/4|n.75G>A|||||| 22 42271293 . T C . . ANN=C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|2/19|c.1090-48T>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|8/19|c.1090-48T>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|1/19|c.1090-48T>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|4/19|c.1090-48T>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|7/19|c.1090-48T>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|5/19|c.1090-48T>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|3/19|c.1090-48T>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|6/19|c.1090-48T>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|8/19|c.1090-48T>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|4/19|c.1090-48T>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|7/19|c.1090-48T>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|5/19|c.1090-48T>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|3/19|c.1090-48T>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|6/19|c.1090-48T>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|domain:bHLH|ENST00000361204|protein_coding|5/19|c.1090-48T>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|domain:bHLH|ENST00000361204|protein_coding|6/19|c.1090-48T>C||||||,C|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000464119|retained_intron||n.-1T>C|||||142|,C|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|5/18|c.1090-48T>C||||||,C|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|5/21|n.1090-48T>C||||||,C|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000462539|retained_intron|1/3|n.332-48T>C|||||| 22 42271363 . G A . . ANN=A|missense_variant|MODERATE|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|6/19|c.1112G>A|p.Arg371Lys|1278/5240|1112/3426|371/1141||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|2/19|c.1112G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|8/19|c.1112G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|1/19|c.1112G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|4/19|c.1112G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|7/19|c.1112G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|5/19|c.1112G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|3/19|c.1112G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|6/19|c.1112G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|8/19|c.1112G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|4/19|c.1112G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|7/19|c.1112G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|5/19|c.1112G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|3/19|c.1112G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|6/19|c.1112G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|domain:bHLH|ENST00000361204|protein_coding|5/19|c.1112G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|domain:bHLH|ENST00000361204|protein_coding|6/19|c.1112G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|helix|ENST00000361204|protein_coding|6/19|c.1112G>A||||||,A|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000464119|retained_intron||n.-1G>A|||||72|,A|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|6/22|n.1112G>A||||||,A|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000462539|retained_intron|2/4|n.354G>A|||||| 22 42271491 . C T . . ANN=T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|2/19|c.1204+36C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|8/19|c.1204+36C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|1/19|c.1204+36C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|4/19|c.1204+36C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|7/19|c.1204+36C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|5/19|c.1204+36C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|3/19|c.1204+36C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|6/19|c.1204+36C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|8/19|c.1204+36C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|4/19|c.1204+36C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|7/19|c.1204+36C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|5/19|c.1204+36C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|3/19|c.1204+36C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|6/19|c.1204+36C>T||||||,T|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|6/18|c.1204+36C>T||||||,T|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|6/21|n.1204+36C>T||||||,T|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000462539|retained_intron|2/3|n.446+36C>T||||||,T|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000464119|retained_intron|1/2|n.57C>T|||||| 22 42271495 . G A . . ANN=A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|2/19|c.1204+40G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|8/19|c.1204+40G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|1/19|c.1204+40G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|4/19|c.1204+40G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|7/19|c.1204+40G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|5/19|c.1204+40G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|3/19|c.1204+40G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|6/19|c.1204+40G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|8/19|c.1204+40G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|4/19|c.1204+40G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|7/19|c.1204+40G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|5/19|c.1204+40G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|3/19|c.1204+40G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|6/19|c.1204+40G>A||||||,A|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|6/18|c.1204+40G>A||||||,A|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|6/21|n.1204+40G>A||||||,A|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000462539|retained_intron|2/3|n.446+40G>A||||||,A|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000464119|retained_intron|1/2|n.61G>A|||||| 22 42271533 . G A . . ANN=A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|2/19|c.1205-14G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|8/19|c.1205-14G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|1/19|c.1205-14G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|4/19|c.1205-14G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|7/19|c.1205-14G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|5/19|c.1205-14G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|3/19|c.1205-14G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|6/19|c.1205-14G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|8/19|c.1205-14G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|4/19|c.1205-14G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|7/19|c.1205-14G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|5/19|c.1205-14G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|3/19|c.1205-14G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|6/19|c.1205-14G>A||||||,A|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|6/18|c.1205-14G>A||||||,A|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|6/21|n.1205-14G>A||||||,A|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000462539|retained_intron|2/3|n.447-14G>A||||||,A|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000464119|retained_intron|1/2|n.99G>A|||||| 22 42271539 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|6/18|c.1205-8C>T||||||,T|splice_region_variant&intron_variant|LOW|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|6/21|n.1205-8C>T||||||,T|splice_region_variant&intron_variant|LOW|SREBF2|ENSG00000198911|transcript|ENST00000462539|retained_intron|2/3|n.447-8C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|2/19|c.1205-8C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|8/19|c.1205-8C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|1/19|c.1205-8C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|4/19|c.1205-8C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|7/19|c.1205-8C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|5/19|c.1205-8C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|3/19|c.1205-8C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|6/19|c.1205-8C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|8/19|c.1205-8C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|4/19|c.1205-8C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|7/19|c.1205-8C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|5/19|c.1205-8C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|3/19|c.1205-8C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|6/19|c.1205-8C>T||||||,T|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000464119|retained_intron|1/2|n.105C>T|||||| 22 42271653 . C A . . ANN=A|missense_variant|MODERATE|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|7/19|c.1311C>A|p.Asp437Glu|1477/5240|1311/3426|437/1141||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|2/19|c.1311C>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|8/19|c.1311C>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|1/19|c.1311C>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|4/19|c.1311C>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|7/19|c.1311C>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|5/19|c.1311C>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|3/19|c.1311C>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|6/19|c.1311C>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|8/19|c.1311C>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|4/19|c.1311C>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|7/19|c.1311C>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|5/19|c.1311C>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|3/19|c.1311C>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|6/19|c.1311C>A||||||,A|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|7/22|n.1311C>A||||||,A|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000462539|retained_intron|3/4|n.553C>A||||||,A|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000464119|retained_intron|1/2|n.219C>A|||||| 22 42271760 . A G . . ANN=G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|2/19|c.1386+32A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|8/19|c.1386+32A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|1/19|c.1386+32A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|4/19|c.1386+32A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|7/19|c.1386+32A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|5/19|c.1386+32A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|3/19|c.1386+32A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|6/19|c.1386+32A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|8/19|c.1386+32A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|4/19|c.1386+32A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|7/19|c.1386+32A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|5/19|c.1386+32A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|3/19|c.1386+32A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|6/19|c.1386+32A>G||||||,G|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|7/18|c.1386+32A>G||||||,G|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|7/21|n.1386+32A>G||||||,G|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000462539|retained_intron|3/3|n.628+32A>G||||||,G|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000464119|retained_intron|1/1|n.294+32A>G|||||| 22 42273264 . C T . . ANN=T|missense_variant|MODERATE|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|8/19|c.1418C>T|p.Ala473Val|1584/5240|1418/3426|473/1141||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|2/19|c.1418C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|8/19|c.1418C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|1/19|c.1418C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|4/19|c.1418C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|7/19|c.1418C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|5/19|c.1418C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|3/19|c.1418C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|6/19|c.1418C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|8/19|c.1418C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|4/19|c.1418C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|7/19|c.1418C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|5/19|c.1418C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|3/19|c.1418C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|6/19|c.1418C>T||||||,T|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|8/22|n.1418C>T||||||,T|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000462539|retained_intron|4/4|n.660C>T||||||,T|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000464119|retained_intron|2/2|n.326C>T|||||| 22 42273269 . G C . . ANN=C|missense_variant|MODERATE|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|8/19|c.1423G>C|p.Gly475Arg|1589/5240|1423/3426|475/1141||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|2/19|c.1423G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|8/19|c.1423G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|1/19|c.1423G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|4/19|c.1423G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|7/19|c.1423G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|5/19|c.1423G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|3/19|c.1423G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|6/19|c.1423G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|8/19|c.1423G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|4/19|c.1423G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|7/19|c.1423G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|5/19|c.1423G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|3/19|c.1423G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|6/19|c.1423G>C||||||,C|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|8/22|n.1423G>C||||||,C|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000462539|retained_intron|4/4|n.665G>C||||||,C|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000464119|retained_intron|2/2|n.331G>C|||||| 22 42273340 . T C . . ANN=C|synonymous_variant|LOW|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|8/19|c.1494T>C|p.Thr498Thr|1660/5240|1494/3426|498/1141||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|transmembrane_region:Transmembrane_region|ENST00000361204|protein_coding|8/19|c.1494T>C||||||,C|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|8/22|n.1494T>C||||||,C|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000462539|retained_intron|4/4|n.736T>C||||||,C|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000464119|retained_intron|2/2|n.402T>C|||||| 22 42273418 . C T . . ANN=T|synonymous_variant|LOW|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|8/19|c.1572C>T|p.Phe524Phe|1738/5240|1572/3426|524/1141||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Lumenal|ENST00000361204|protein_coding|8/19|c.1572C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Lumenal|ENST00000361204|protein_coding|9/19|c.1572C>T||||||,T|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000462539|retained_intron||n.*796C>T|||||18|,T|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000464119|retained_intron||n.*432C>T|||||48|,T|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|8/22|n.1572C>T|||||| 22 42273443 . G C . . ANN=C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Lumenal|ENST00000361204|protein_coding|8/19|c.1579+18G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Lumenal|ENST00000361204|protein_coding|9/19|c.1579+18G>C||||||,C|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000462539|retained_intron||n.*796G>C|||||43|,C|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000464119|retained_intron||n.*432G>C|||||73|,C|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|8/18|c.1579+18G>C||||||,C|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|8/21|n.1579+18G>C|||||| 22 42273462 . G A . . ANN=A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Lumenal|ENST00000361204|protein_coding|8/19|c.1579+37G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Lumenal|ENST00000361204|protein_coding|9/19|c.1579+37G>A||||||,A|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000462539|retained_intron||n.*796G>A|||||62|,A|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000464119|retained_intron||n.*432G>A|||||92|,A|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|8/18|c.1579+37G>A||||||,A|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|8/21|n.1579+37G>A|||||| 22 42273467 . A T . . ANN=T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Lumenal|ENST00000361204|protein_coding|8/19|c.1579+42A>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Lumenal|ENST00000361204|protein_coding|9/19|c.1579+42A>T||||||,T|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000462539|retained_intron||n.*796A>T|||||67|,T|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000464119|retained_intron||n.*432A>T|||||97|,T|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|8/18|c.1579+42A>T||||||,T|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|8/21|n.1579+42A>T|||||| 22 42273933 . C T . . ANN=T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Lumenal|ENST00000361204|protein_coding|8/19|c.1580-13C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Lumenal|ENST00000361204|protein_coding|9/19|c.1580-13C>T||||||,T|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000462539|retained_intron||n.*796C>T|||||533|,T|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000464119|retained_intron||n.*432C>T|||||563|,T|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|8/18|c.1580-13C>T||||||,T|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|8/21|n.1580-13C>T|||||| 22 42273963 . G A . . ANN=A|missense_variant|MODERATE|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|9/19|c.1597G>A|p.Asp533Asn|1763/5240|1597/3426|533/1141||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Lumenal|ENST00000361204|protein_coding|8/19|c.1597G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Lumenal|ENST00000361204|protein_coding|9/19|c.1597G>A||||||,A|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000462539|retained_intron||n.*796G>A|||||563|,A|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000464119|retained_intron||n.*432G>A|||||593|,A|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|9/22|n.1597G>A|||||| 22 42274034 . G T . . ANN=T|synonymous_variant|LOW|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|9/19|c.1668G>T|p.Leu556Leu|1834/5240|1668/3426|556/1141||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|14/19|c.1668G>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|13/19|c.1668G>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|9/19|c.1668G>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|18/19|c.1668G>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|15/19|c.1668G>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|19/19|c.1668G>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|17/19|c.1668G>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|11/19|c.1668G>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|12/19|c.1668G>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|10/19|c.1668G>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|16/19|c.1668G>T||||||,T|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000462539|retained_intron||n.*796G>T|||||634|,T|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000464119|retained_intron||n.*432G>T|||||664|,T|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|9/22|n.1668G>T|||||| 22 42274076 . C T . . ANN=T|synonymous_variant|LOW|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|9/19|c.1710C>T|p.Ser570Ser|1876/5240|1710/3426|570/1141||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|14/19|c.1710C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|13/19|c.1710C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|9/19|c.1710C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|18/19|c.1710C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|15/19|c.1710C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|19/19|c.1710C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|17/19|c.1710C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|11/19|c.1710C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|12/19|c.1710C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|10/19|c.1710C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|16/19|c.1710C>T||||||,T|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000462539|retained_intron||n.*796C>T|||||676|,T|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000464119|retained_intron||n.*432C>T|||||706|,T|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|9/22|n.1710C>T|||||| 22 42274135 . C A . . ANN=A|splice_region_variant&intron_variant|LOW|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|9/18|c.1761+8C>A||||||,A|splice_region_variant&intron_variant|LOW|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|9/21|n.1761+8C>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|14/19|c.1761+8C>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|13/19|c.1761+8C>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|9/19|c.1761+8C>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|18/19|c.1761+8C>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|15/19|c.1761+8C>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|19/19|c.1761+8C>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|17/19|c.1761+8C>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|11/19|c.1761+8C>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|12/19|c.1761+8C>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|10/19|c.1761+8C>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|16/19|c.1761+8C>A||||||,A|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000462539|retained_intron||n.*796C>A|||||735|,A|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000464119|retained_intron||n.*432C>A|||||765| 22 42276742 . G C . . ANN=C|missense_variant|MODERATE|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|10/19|c.1784G>C|p.Gly595Ala|1950/5240|1784/3426|595/1141||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|14/19|c.1784G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|13/19|c.1784G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|9/19|c.1784G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|18/19|c.1784G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|15/19|c.1784G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|19/19|c.1784G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|17/19|c.1784G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|11/19|c.1784G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|12/19|c.1784G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|10/19|c.1784G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|16/19|c.1784G>C||||||,C|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000491541|processed_transcript||n.-1G>C|||||4858|,C|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000462539|retained_intron||n.*796G>C|||||3342|,C|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000464119|retained_intron||n.*432G>C|||||3372|,C|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|11/22|n.1884G>C|||||| 22 42276792 . C T . . ANN=T|missense_variant|MODERATE|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|10/19|c.1834C>T|p.Arg612Cys|2000/5240|1834/3426|612/1141||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|14/19|c.1834C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|13/19|c.1834C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|9/19|c.1834C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|18/19|c.1834C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|15/19|c.1834C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|19/19|c.1834C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|17/19|c.1834C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|11/19|c.1834C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|12/19|c.1834C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|10/19|c.1834C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|16/19|c.1834C>T||||||,T|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000491541|processed_transcript||n.-1C>T|||||4808|,T|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000462539|retained_intron||n.*796C>T|||||3392|,T|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000464119|retained_intron||n.*432C>T|||||3422|,T|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|11/22|n.1934C>T|||||| 22 42276825 . G A . . ANN=A|missense_variant|MODERATE|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|10/19|c.1867G>A|p.Val623Met|2033/5240|1867/3426|623/1141||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|14/19|c.1867G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|13/19|c.1867G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|9/19|c.1867G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|18/19|c.1867G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|15/19|c.1867G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|19/19|c.1867G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|17/19|c.1867G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|11/19|c.1867G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|12/19|c.1867G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|10/19|c.1867G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|16/19|c.1867G>A||||||,A|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000491541|processed_transcript||n.-1G>A|||||4775|,A|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000462539|retained_intron||n.*796G>A|||||3425|,A|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000464119|retained_intron||n.*432G>A|||||3455|,A|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|11/22|n.1967G>A|||||| 22 42276857 . G A . . ANN=A|synonymous_variant|LOW|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|10/19|c.1899G>A|p.Leu633Leu|2065/5240|1899/3426|633/1141||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|14/19|c.1899G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|13/19|c.1899G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|9/19|c.1899G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|18/19|c.1899G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|15/19|c.1899G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|19/19|c.1899G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|17/19|c.1899G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|11/19|c.1899G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|12/19|c.1899G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|10/19|c.1899G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|16/19|c.1899G>A||||||,A|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000491541|processed_transcript||n.-1G>A|||||4743|,A|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000462539|retained_intron||n.*796G>A|||||3457|,A|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000464119|retained_intron||n.*432G>A|||||3487|,A|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|11/22|n.1999G>A|||||| 22 42276895 . G A . . ANN=A|missense_variant|MODERATE|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|10/19|c.1937G>A|p.Arg646Gln|2103/5240|1937/3426|646/1141||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|14/19|c.1937G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|13/19|c.1937G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|9/19|c.1937G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|18/19|c.1937G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|15/19|c.1937G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|19/19|c.1937G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|17/19|c.1937G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|11/19|c.1937G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|12/19|c.1937G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|10/19|c.1937G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|16/19|c.1937G>A||||||,A|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000491541|processed_transcript||n.-1G>A|||||4705|,A|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000462539|retained_intron||n.*796G>A|||||3495|,A|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000464119|retained_intron||n.*432G>A|||||3525|,A|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|11/22|n.2037G>A|||||| 22 42276957 . G T . . ANN=T|missense_variant|MODERATE|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|10/19|c.1999G>T|p.Ala667Ser|2165/5240|1999/3426|667/1141||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|14/19|c.1999G>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|13/19|c.1999G>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|9/19|c.1999G>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|18/19|c.1999G>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|15/19|c.1999G>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|19/19|c.1999G>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|17/19|c.1999G>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|11/19|c.1999G>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|12/19|c.1999G>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|10/19|c.1999G>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|16/19|c.1999G>T||||||,T|3_prime_UTR_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|11/22|n.*44G>T|||||44|,T|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000491541|processed_transcript||n.-1G>T|||||4643|,T|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000462539|retained_intron||n.*796G>T|||||3557|,T|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000464119|retained_intron||n.*432G>T|||||3587|,T|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|11/22|n.*44G>T|||||| 22 42280875 . G A . . ANN=A|missense_variant|MODERATE|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|11/19|c.2068G>A|p.Asp690Asn|2234/5240|2068/3426|690/1141||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|14/19|c.2068G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|13/19|c.2068G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|9/19|c.2068G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|18/19|c.2068G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|15/19|c.2068G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|19/19|c.2068G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|17/19|c.2068G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|11/19|c.2068G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|12/19|c.2068G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|10/19|c.2068G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|16/19|c.2068G>A||||||,A|3_prime_UTR_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|12/22|n.*113G>A|||||3962|,A|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000491541|processed_transcript||n.-1G>A|||||725|,A|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|12/22|n.*113G>A|||||| 22 42280889 . G A . . ANN=A|synonymous_variant|LOW|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|11/19|c.2082G>A|p.Ala694Ala|2248/5240|2082/3426|694/1141||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|14/19|c.2082G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|13/19|c.2082G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|9/19|c.2082G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|18/19|c.2082G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|15/19|c.2082G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|19/19|c.2082G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|17/19|c.2082G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|11/19|c.2082G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|12/19|c.2082G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|10/19|c.2082G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|16/19|c.2082G>A||||||,A|3_prime_UTR_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|12/22|n.*127G>A|||||3976|,A|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000491541|processed_transcript||n.-1G>A|||||711|,A|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|12/22|n.*127G>A|||||| 22 42289096 . A G . . ANN=G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|14/19|c.2209-25A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|13/19|c.2209-25A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|9/19|c.2209-25A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|18/19|c.2209-25A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|15/19|c.2209-25A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|19/19|c.2209-25A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|17/19|c.2209-25A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|11/19|c.2209-25A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|12/19|c.2209-25A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|10/19|c.2209-25A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|16/19|c.2209-25A>G||||||,G|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000463741|retained_intron||n.-1A>G|||||3976|,G|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|11/18|c.2209-25A>G||||||,G|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|12/21|n.*254-25A>G||||||,G|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000491541|processed_transcript|3/12|n.760-25A>G|||||| 22 42289164 . A G . . ANN=G|missense_variant|MODERATE|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|12/19|c.2252A>G|p.His751Arg|2418/5240|2252/3426|751/1141||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|14/19|c.2252A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|13/19|c.2252A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|9/19|c.2252A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|18/19|c.2252A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|15/19|c.2252A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|19/19|c.2252A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|17/19|c.2252A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|11/19|c.2252A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|12/19|c.2252A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|10/19|c.2252A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|16/19|c.2252A>G||||||,G|3_prime_UTR_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|13/22|n.*297A>G|||||12251|,G|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000463741|retained_intron||n.-1A>G|||||3908|,G|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|13/22|n.*297A>G||||||,G|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000491541|processed_transcript|4/13|n.803A>G|||||| 22 42289299 . C G . . ANN=G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|14/19|c.2377+10C>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|13/19|c.2377+10C>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|9/19|c.2377+10C>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|18/19|c.2377+10C>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|15/19|c.2377+10C>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|19/19|c.2377+10C>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|17/19|c.2377+10C>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|11/19|c.2377+10C>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|12/19|c.2377+10C>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|10/19|c.2377+10C>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|16/19|c.2377+10C>G||||||,G|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000463741|retained_intron||n.-1C>G|||||3773|,G|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|12/18|c.2377+10C>G||||||,G|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|13/21|n.*422+10C>G||||||,G|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000491541|processed_transcript|4/12|n.928+10C>G|||||| 22 42289317 . T C . . ANN=C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|14/19|c.2377+28T>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|13/19|c.2377+28T>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|9/19|c.2377+28T>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|18/19|c.2377+28T>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|15/19|c.2377+28T>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|19/19|c.2377+28T>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|17/19|c.2377+28T>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|11/19|c.2377+28T>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|12/19|c.2377+28T>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|10/19|c.2377+28T>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|16/19|c.2377+28T>C||||||,C|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000463741|retained_intron||n.-1T>C|||||3755|,C|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|12/18|c.2377+28T>C||||||,C|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|13/21|n.*422+28T>C||||||,C|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000491541|processed_transcript|4/12|n.928+28T>C|||||| 22 42290857 . G A . . ANN=A|missense_variant|MODERATE|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|13/19|c.2411G>A|p.Cys804Tyr|2577/5240|2411/3426|804/1141||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|14/19|c.2411G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|13/19|c.2411G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|9/19|c.2411G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|18/19|c.2411G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|15/19|c.2411G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|19/19|c.2411G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|17/19|c.2411G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|11/19|c.2411G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|12/19|c.2411G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|10/19|c.2411G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|16/19|c.2411G>A||||||,A|3_prime_UTR_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|14/22|n.*456G>A|||||13944|,A|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000463741|retained_intron||n.-1G>A|||||2215|,A|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000435061|protein_coding||c.-3G>A|||||3823|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|14/22|n.*456G>A||||||,A|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000491541|processed_transcript|5/13|n.962G>A|||||| 22 42290962 . C T . . ANN=T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|14/19|c.2495+21C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|13/19|c.2495+21C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|9/19|c.2495+21C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|18/19|c.2495+21C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|15/19|c.2495+21C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|19/19|c.2495+21C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|17/19|c.2495+21C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|11/19|c.2495+21C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|12/19|c.2495+21C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|10/19|c.2495+21C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|16/19|c.2495+21C>T||||||,T|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000463741|retained_intron||n.-1C>T|||||2110|,T|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000435061|protein_coding||c.-3C>T|||||3718|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|13/18|c.2495+21C>T||||||,T|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|14/21|n.*540+21C>T||||||,T|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000491541|processed_transcript|5/12|n.1046+21C>T|||||| 22 42290984 . C T . . ANN=T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|14/19|c.2495+43C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|13/19|c.2495+43C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|9/19|c.2495+43C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|18/19|c.2495+43C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|15/19|c.2495+43C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|19/19|c.2495+43C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|17/19|c.2495+43C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|11/19|c.2495+43C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|12/19|c.2495+43C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|10/19|c.2495+43C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|16/19|c.2495+43C>T||||||,T|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000463741|retained_intron||n.-1C>T|||||2088|,T|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000435061|protein_coding||c.-3C>T|||||3696|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|13/18|c.2495+43C>T||||||,T|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|14/21|n.*540+43C>T||||||,T|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000491541|processed_transcript|5/12|n.1046+43C>T|||||| 22 42293026 . T C . . ANN=C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|14/19|c.2496-30T>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|13/19|c.2496-30T>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|9/19|c.2496-30T>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|18/19|c.2496-30T>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|15/19|c.2496-30T>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|19/19|c.2496-30T>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|17/19|c.2496-30T>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|11/19|c.2496-30T>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|12/19|c.2496-30T>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|10/19|c.2496-30T>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|16/19|c.2496-30T>C||||||,C|upstream_gene_variant|MODIFIER|MIR33A|ENSG00000207932|transcript|ENST00000385197|miRNA||n.-1T>C|||||3922|,C|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000463741|retained_intron||n.-1T>C|||||46|,C|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000435061|protein_coding||c.-3T>C|||||1654|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000490262|retained_intron||n.-1T>C|||||3061|,C|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|13/18|c.2496-30T>C||||||,C|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|14/21|n.*541-30T>C||||||,C|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000491541|processed_transcript|5/12|n.1047-30T>C|||||| 22 42293140 . G C . . ANN=C|missense_variant|MODERATE|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|14/19|c.2580G>C|p.Arg860Ser|2746/5240|2580/3426|860/1141||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|14/19|c.2580G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|13/19|c.2580G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|9/19|c.2580G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|18/19|c.2580G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|15/19|c.2580G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|19/19|c.2580G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|17/19|c.2580G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|11/19|c.2580G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|12/19|c.2580G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|10/19|c.2580G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|16/19|c.2580G>C||||||,C|3_prime_UTR_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|15/22|n.*625G>C|||||16227|,C|upstream_gene_variant|MODIFIER|MIR33A|ENSG00000207932|transcript|ENST00000385197|miRNA||n.-1G>C|||||3808|,C|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000435061|protein_coding||c.-3G>C|||||1540|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000490262|retained_intron||n.-1G>C|||||2947|,C|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|15/22|n.*625G>C||||||,C|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000491541|processed_transcript|6/13|n.1131G>C||||||,C|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000463741|retained_intron|1/2|n.69G>C|||||| 22 42293178 . G A . . ANN=A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|14/19|c.2605+13G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|13/19|c.2605+13G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|9/19|c.2605+13G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|18/19|c.2605+13G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|15/19|c.2605+13G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|19/19|c.2605+13G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|17/19|c.2605+13G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|11/19|c.2605+13G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|12/19|c.2605+13G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|10/19|c.2605+13G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|16/19|c.2605+13G>A||||||,A|upstream_gene_variant|MODIFIER|MIR33A|ENSG00000207932|transcript|ENST00000385197|miRNA||n.-1G>A|||||3770|,A|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000435061|protein_coding||c.-3G>A|||||1502|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000490262|retained_intron||n.-1G>A|||||2909|,A|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|14/18|c.2605+13G>A||||||,A|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|15/21|n.*650+13G>A||||||,A|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000491541|processed_transcript|6/12|n.1156+13G>A||||||,A|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000463741|retained_intron|1/1|n.94+13G>A|||||| 22 42293205 . G T . . ANN=T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|14/19|c.2605+40G>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|13/19|c.2605+40G>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|9/19|c.2605+40G>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|18/19|c.2605+40G>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|15/19|c.2605+40G>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|19/19|c.2605+40G>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|17/19|c.2605+40G>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|11/19|c.2605+40G>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|12/19|c.2605+40G>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|10/19|c.2605+40G>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|16/19|c.2605+40G>T||||||,T|upstream_gene_variant|MODIFIER|MIR33A|ENSG00000207932|transcript|ENST00000385197|miRNA||n.-1G>T|||||3743|,T|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000435061|protein_coding||c.-3G>T|||||1475|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000490262|retained_intron||n.-1G>T|||||2882|,T|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|14/18|c.2605+40G>T||||||,T|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|15/21|n.*650+40G>T||||||,T|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000491541|processed_transcript|6/12|n.1156+40G>T||||||,T|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000463741|retained_intron|1/1|n.94+40G>T|||||| 22 42294613 . C T . . ANN=T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|14/19|c.2606-40C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|13/19|c.2606-40C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|9/19|c.2606-40C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|18/19|c.2606-40C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|15/19|c.2606-40C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|19/19|c.2606-40C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|17/19|c.2606-40C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|11/19|c.2606-40C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|12/19|c.2606-40C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|10/19|c.2606-40C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|16/19|c.2606-40C>T||||||,T|upstream_gene_variant|MODIFIER|MIR33A|ENSG00000207932|transcript|ENST00000385197|miRNA||n.-1C>T|||||2335|,T|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000435061|protein_coding||c.-3C>T|||||67|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000490262|retained_intron||n.-1C>T|||||1474|,T|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|14/18|c.2606-40C>T||||||,T|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|15/21|n.*651-40C>T||||||,T|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000491541|processed_transcript|6/12|n.1157-40C>T||||||,T|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000463741|retained_intron|1/1|n.95-40C>T|||||| 22 42294751 . G C . . ANN=C|missense_variant|MODERATE|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|15/19|c.2704G>C|p.Val902Leu|2870/5240|2704/3426|902/1141||,C|missense_variant|MODERATE|SREBF2|ENSG00000198911|transcript|ENST00000435061|protein_coding|1/5|c.70G>C|p.Val24Leu|72/770|70/768|24/255||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|14/19|c.2704G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|13/19|c.2704G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|9/19|c.2704G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|18/19|c.2704G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|15/19|c.2704G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|19/19|c.2704G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|17/19|c.2704G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|11/19|c.2704G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|12/19|c.2704G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|10/19|c.2704G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|16/19|c.2704G>C||||||,C|3_prime_UTR_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|16/22|n.*749G>C|||||17838|,C|upstream_gene_variant|MODIFIER|MIR33A|ENSG00000207932|transcript|ENST00000385197|miRNA||n.-1G>C|||||2197|,C|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000490262|retained_intron||n.-1G>C|||||1336|,C|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|16/22|n.*749G>C||||||,C|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000491541|processed_transcript|7/13|n.1255G>C||||||,C|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000463741|retained_intron|2/2|n.193G>C|||||| 22 42294806 . A G . . ANN=G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|14/19|c.2738+21A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|13/19|c.2738+21A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|9/19|c.2738+21A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|18/19|c.2738+21A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|15/19|c.2738+21A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|19/19|c.2738+21A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|17/19|c.2738+21A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|11/19|c.2738+21A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|12/19|c.2738+21A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|10/19|c.2738+21A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|16/19|c.2738+21A>G||||||,G|upstream_gene_variant|MODIFIER|MIR33A|ENSG00000207932|transcript|ENST00000385197|miRNA||n.-1A>G|||||2142|,G|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000490262|retained_intron||n.-1A>G|||||1281|,G|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|15/18|c.2738+21A>G||||||,G|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|16/21|n.*783+21A>G||||||,G|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000491541|processed_transcript|7/12|n.1289+21A>G||||||,G|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000435061|protein_coding|1/4|c.104+21A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,G|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000463741|retained_intron|2/2|n.248A>G|||||| 22 42296330 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|15/18|c.2739-4G>A||||||,A|splice_region_variant&intron_variant|LOW|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|18/21|n.*1204-4G>A||||||,A|splice_region_variant&intron_variant|LOW|SREBF2|ENSG00000198911|transcript|ENST00000491541|processed_transcript|9/12|n.1710-4G>A||||||,A|splice_region_variant&intron_variant|LOW|SREBF2|ENSG00000198911|transcript|ENST00000435061|protein_coding|1/4|c.105-4G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|14/19|c.2739-4G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|13/19|c.2739-4G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|9/19|c.2739-4G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|18/19|c.2739-4G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|15/19|c.2739-4G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|19/19|c.2739-4G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|17/19|c.2739-4G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|11/19|c.2739-4G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|12/19|c.2739-4G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|10/19|c.2739-4G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|16/19|c.2739-4G>A||||||,A|upstream_gene_variant|MODIFIER|MIR33A|ENSG00000207932|transcript|ENST00000385197|miRNA||n.-1G>A|||||618|,A|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000463741|retained_intron||n.*634G>A|||||1138|,A|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000490262|retained_intron|1/2|n.244G>A|||||| 22 42298957 . C T . . ANN=T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|14/19|c.2908-17C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|13/19|c.2908-17C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|9/19|c.2908-17C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|18/19|c.2908-17C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|15/19|c.2908-17C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|19/19|c.2908-17C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|17/19|c.2908-17C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|11/19|c.2908-17C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|12/19|c.2908-17C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|10/19|c.2908-17C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|16/19|c.2908-17C>T||||||,T|downstream_gene_variant|MODIFIER|MIR33A|ENSG00000207932|transcript|ENST00000385197|miRNA||n.*69C>T|||||1941|,T|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000463741|retained_intron||n.*634C>T|||||3765|,T|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|16/18|c.2908-17C>T||||||,T|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|19/21|n.*1373-17C>T||||||,T|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000491541|processed_transcript|10/12|n.1879-17C>T||||||,T|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000435061|protein_coding|2/4|c.274-17C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000490262|retained_intron|1/1|n.417-17C>T|||||| 22 42299074 . C T . . ANN=T|missense_variant|MODERATE|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|17/19|c.3008C>T|p.Ala1003Val|3174/5240|3008/3426|1003/1141||,T|missense_variant|MODERATE|SREBF2|ENSG00000198911|transcript|ENST00000435061|protein_coding|3/5|c.374C>T|p.Ala125Val|376/770|374/768|125/255||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|14/19|c.3008C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|13/19|c.3008C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|9/19|c.3008C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|18/19|c.3008C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|15/19|c.3008C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|19/19|c.3008C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|17/19|c.3008C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|11/19|c.3008C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|12/19|c.3008C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|10/19|c.3008C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|16/19|c.3008C>T||||||,T|3_prime_UTR_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|20/22|n.*1473C>T|||||22161|,T|downstream_gene_variant|MODIFIER|MIR33A|ENSG00000207932|transcript|ENST00000385197|miRNA||n.*69C>T|||||2058|,T|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000463741|retained_intron||n.*634C>T|||||3882|,T|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000490262|retained_intron||n.*450C>T|||||67|,T|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|20/22|n.*1473C>T||||||,T|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000491541|processed_transcript|11/13|n.1979C>T|||||| 22 42299116 . G A . . ANN=A|missense_variant|MODERATE|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|17/19|c.3050G>A|p.Ser1017Asn|3216/5240|3050/3426|1017/1141||,A|missense_variant|MODERATE|SREBF2|ENSG00000198911|transcript|ENST00000435061|protein_coding|3/5|c.416G>A|p.Ser139Asn|418/770|416/768|139/255||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|14/19|c.3050G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|13/19|c.3050G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|9/19|c.3050G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|18/19|c.3050G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|15/19|c.3050G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|19/19|c.3050G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|17/19|c.3050G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|11/19|c.3050G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|12/19|c.3050G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|10/19|c.3050G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|16/19|c.3050G>A||||||,A|3_prime_UTR_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|20/22|n.*1515G>A|||||22203|,A|downstream_gene_variant|MODIFIER|MIR33A|ENSG00000207932|transcript|ENST00000385197|miRNA||n.*69G>A|||||2100|,A|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000463741|retained_intron||n.*634G>A|||||3924|,A|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000490262|retained_intron||n.*450G>A|||||109|,A|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|20/22|n.*1515G>A||||||,A|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000491541|processed_transcript|11/13|n.2021G>A|||||| 22 42299177 . G C . . ANN=C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|14/19|c.3093+18G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|13/19|c.3093+18G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|9/19|c.3093+18G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|18/19|c.3093+18G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|15/19|c.3093+18G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|19/19|c.3093+18G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|17/19|c.3093+18G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|11/19|c.3093+18G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|12/19|c.3093+18G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|10/19|c.3093+18G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|16/19|c.3093+18G>C||||||,C|downstream_gene_variant|MODIFIER|MIR33A|ENSG00000207932|transcript|ENST00000385197|miRNA||n.*69G>C|||||2161|,C|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000463741|retained_intron||n.*634G>C|||||3985|,C|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000490262|retained_intron||n.*450G>C|||||170|,C|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|17/18|c.3093+18G>C||||||,C|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|20/21|n.*1558+18G>C||||||,C|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000491541|processed_transcript|11/12|n.2064+18G>C||||||,C|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000435061|protein_coding|3/4|c.459+18G>C||||||WARNING_TRANSCRIPT_NO_START_CODON 22 42299183 . G A . . ANN=A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|14/19|c.3093+24G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|13/19|c.3093+24G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|9/19|c.3093+24G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|18/19|c.3093+24G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|15/19|c.3093+24G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|19/19|c.3093+24G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|17/19|c.3093+24G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|11/19|c.3093+24G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|12/19|c.3093+24G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|10/19|c.3093+24G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|16/19|c.3093+24G>A||||||,A|downstream_gene_variant|MODIFIER|MIR33A|ENSG00000207932|transcript|ENST00000385197|miRNA||n.*69G>A|||||2167|,A|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000463741|retained_intron||n.*634G>A|||||3991|,A|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000490262|retained_intron||n.*450G>A|||||176|,A|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|17/18|c.3093+24G>A||||||,A|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|20/21|n.*1558+24G>A||||||,A|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000491541|processed_transcript|11/12|n.2064+24G>A||||||,A|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000435061|protein_coding|3/4|c.459+24G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 42300878 . T C . . ANN=C|synonymous_variant|LOW|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|18/19|c.3105T>C|p.His1035His|3271/5240|3105/3426|1035/1141||,C|synonymous_variant|LOW|SREBF2|ENSG00000198911|transcript|ENST00000435061|protein_coding|5/5|c.669T>C|p.His223His|671/770|669/768|223/255||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|14/19|c.3105T>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|13/19|c.3105T>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|9/19|c.3105T>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|18/19|c.3105T>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|15/19|c.3105T>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|19/19|c.3105T>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|17/19|c.3105T>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|11/19|c.3105T>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|12/19|c.3105T>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|10/19|c.3105T>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|16/19|c.3105T>C||||||,C|3_prime_UTR_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|21/22|n.*1570T>C|||||23965|,C|downstream_gene_variant|MODIFIER|MIR33A|ENSG00000207932|transcript|ENST00000385197|miRNA||n.*69T>C|||||3862|,C|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000490262|retained_intron||n.*450T>C|||||1871|,C|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|21/22|n.*1570T>C||||||,C|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000491541|processed_transcript|12/13|n.2076T>C|||||| 22 42300948 . C A . . ANN=A|synonymous_variant|LOW|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|18/19|c.3175C>A|p.Arg1059Arg|3341/5240|3175/3426|1059/1141||,A|synonymous_variant|LOW|SREBF2|ENSG00000198911|transcript|ENST00000435061|protein_coding|5/5|c.739C>A|p.Arg247Arg|741/770|739/768|247/255||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|14/19|c.3175C>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|13/19|c.3175C>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|9/19|c.3175C>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|18/19|c.3175C>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|15/19|c.3175C>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|19/19|c.3175C>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|17/19|c.3175C>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|11/19|c.3175C>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|12/19|c.3175C>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|10/19|c.3175C>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|16/19|c.3175C>A||||||,A|3_prime_UTR_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|21/22|n.*1640C>A|||||24035|,A|downstream_gene_variant|MODIFIER|MIR33A|ENSG00000207932|transcript|ENST00000385197|miRNA||n.*69C>A|||||3932|,A|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000490262|retained_intron||n.*450C>A|||||1941|,A|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|21/22|n.*1640C>A||||||,A|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000491541|processed_transcript|12/13|n.2146C>A|||||| 22 42301014 . A G . . ANN=G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|14/19|c.3205+36A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|13/19|c.3205+36A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|9/19|c.3205+36A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|18/19|c.3205+36A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|15/19|c.3205+36A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|19/19|c.3205+36A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|17/19|c.3205+36A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|11/19|c.3205+36A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|12/19|c.3205+36A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|10/19|c.3205+36A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|16/19|c.3205+36A>G||||||,G|downstream_gene_variant|MODIFIER|MIR33A|ENSG00000207932|transcript|ENST00000385197|miRNA||n.*69A>G|||||3998|,G|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000435061|protein_coding||c.*770A>G|||||37|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000490262|retained_intron||n.*450A>G|||||2007|,G|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|18/18|c.3205+36A>G||||||,G|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|21/21|n.*1670+36A>G||||||,G|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000491541|processed_transcript|12/12|n.2176+36A>G|||||| 22 42301409 . G A . . ANN=A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|14/19|c.3206-35G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|13/19|c.3206-35G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|9/19|c.3206-35G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|18/19|c.3206-35G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|15/19|c.3206-35G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|19/19|c.3206-35G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|17/19|c.3206-35G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|11/19|c.3206-35G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|12/19|c.3206-35G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|10/19|c.3206-35G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|16/19|c.3206-35G>A||||||,A|downstream_gene_variant|MODIFIER|MIR33A|ENSG00000207932|transcript|ENST00000385197|miRNA||n.*69G>A|||||4393|,A|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000435061|protein_coding||c.*770G>A|||||432|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000490262|retained_intron||n.*450G>A|||||2402|,A|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|18/18|c.3206-35G>A||||||,A|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|21/21|n.*1671-35G>A||||||,A|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000491541|processed_transcript|12/12|n.2177-35G>A|||||| 22 42301434 . C T . . ANN=T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|14/19|c.3206-10C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|13/19|c.3206-10C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|9/19|c.3206-10C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|18/19|c.3206-10C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|15/19|c.3206-10C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|19/19|c.3206-10C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|17/19|c.3206-10C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|11/19|c.3206-10C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|12/19|c.3206-10C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|10/19|c.3206-10C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|16/19|c.3206-10C>T||||||,T|downstream_gene_variant|MODIFIER|MIR33A|ENSG00000207932|transcript|ENST00000385197|miRNA||n.*69C>T|||||4418|,T|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000435061|protein_coding||c.*770C>T|||||457|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000490262|retained_intron||n.*450C>T|||||2427|,T|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|18/18|c.3206-10C>T||||||,T|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|21/21|n.*1671-10C>T||||||,T|intron_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000491541|processed_transcript|12/12|n.2177-10C>T|||||| 22 42301477 . G A . . ANN=A|missense_variant|MODERATE|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|19/19|c.3239G>A|p.Arg1080Gln|3405/5240|3239/3426|1080/1141||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|14/19|c.3239G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|13/19|c.3239G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|9/19|c.3239G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|18/19|c.3239G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|15/19|c.3239G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|19/19|c.3239G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|17/19|c.3239G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|11/19|c.3239G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|12/19|c.3239G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|10/19|c.3239G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|16/19|c.3239G>A||||||,A|3_prime_UTR_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|22/22|n.*1704G>A|||||24564|,A|downstream_gene_variant|MODIFIER|MIR33A|ENSG00000207932|transcript|ENST00000385197|miRNA||n.*69G>A|||||4461|,A|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000435061|protein_coding||c.*770G>A|||||500|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000490262|retained_intron||n.*450G>A|||||2470|,A|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|22/22|n.*1704G>A||||||,A|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000491541|processed_transcript|13/13|n.2210G>A|||||| 22 42301535 . G A . . ANN=A|synonymous_variant|LOW|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|19/19|c.3297G>A|p.Pro1099Pro|3463/5240|3297/3426|1099/1141||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|14/19|c.3297G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|13/19|c.3297G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|9/19|c.3297G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|18/19|c.3297G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|15/19|c.3297G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|19/19|c.3297G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|17/19|c.3297G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|11/19|c.3297G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|12/19|c.3297G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|10/19|c.3297G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|16/19|c.3297G>A||||||,A|3_prime_UTR_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|22/22|n.*1762G>A|||||24622|,A|downstream_gene_variant|MODIFIER|MIR33A|ENSG00000207932|transcript|ENST00000385197|miRNA||n.*69G>A|||||4519|,A|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000435061|protein_coding||c.*770G>A|||||558|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000490262|retained_intron||n.*450G>A|||||2528|,A|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|22/22|n.*1762G>A||||||,A|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000491541|processed_transcript|13/13|n.2268G>A|||||| 22 42301537 . G A . . ANN=A|missense_variant|MODERATE|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|19/19|c.3299G>A|p.Gly1100Asp|3465/5240|3299/3426|1100/1141||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|14/19|c.3299G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|13/19|c.3299G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|9/19|c.3299G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|18/19|c.3299G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|15/19|c.3299G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|19/19|c.3299G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|17/19|c.3299G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|11/19|c.3299G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|12/19|c.3299G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|10/19|c.3299G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|16/19|c.3299G>A||||||,A|3_prime_UTR_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|22/22|n.*1764G>A|||||24624|,A|downstream_gene_variant|MODIFIER|MIR33A|ENSG00000207932|transcript|ENST00000385197|miRNA||n.*69G>A|||||4521|,A|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000435061|protein_coding||c.*770G>A|||||560|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000490262|retained_intron||n.*450G>A|||||2530|,A|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|22/22|n.*1764G>A||||||,A|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000491541|processed_transcript|13/13|n.2270G>A|||||| 22 42301554 . C T . . ANN=T|synonymous_variant|LOW|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|19/19|c.3316C>T|p.Leu1106Leu|3482/5240|3316/3426|1106/1141||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|14/19|c.3316C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|13/19|c.3316C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|9/19|c.3316C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|18/19|c.3316C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|15/19|c.3316C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|19/19|c.3316C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|17/19|c.3316C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|11/19|c.3316C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|12/19|c.3316C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|10/19|c.3316C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|16/19|c.3316C>T||||||,T|3_prime_UTR_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|22/22|n.*1781C>T|||||24641|,T|downstream_gene_variant|MODIFIER|MIR33A|ENSG00000207932|transcript|ENST00000385197|miRNA||n.*69C>T|||||4538|,T|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000435061|protein_coding||c.*770C>T|||||577|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000490262|retained_intron||n.*450C>T|||||2547|,T|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|22/22|n.*1781C>T||||||,T|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000491541|processed_transcript|13/13|n.2287C>T|||||| 22 42301655 . C T . . ANN=T|synonymous_variant|LOW|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|19/19|c.3417C>T|p.Ala1139Ala|3583/5240|3417/3426|1139/1141||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|14/19|c.3417C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|13/19|c.3417C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|9/19|c.3417C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|18/19|c.3417C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|15/19|c.3417C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|19/19|c.3417C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|17/19|c.3417C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|11/19|c.3417C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|12/19|c.3417C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|10/19|c.3417C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|16/19|c.3417C>T||||||,T|3_prime_UTR_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|22/22|n.*1882C>T|||||24742|,T|downstream_gene_variant|MODIFIER|MIR33A|ENSG00000207932|transcript|ENST00000385197|miRNA||n.*69C>T|||||4639|,T|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000435061|protein_coding||c.*770C>T|||||678|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000490262|retained_intron||n.*450C>T|||||2648|,T|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|22/22|n.*1882C>T||||||,T|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000491541|processed_transcript|13/13|n.2388C>T|||||| 22 42301690 . CCTCTCTCTCGATTT C . . ANN=|3_prime_UTR_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|19/19|c.*36_*49delGATTTCTCTCTCTC|||||36|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|22/22|n.*1927_*1940delGATTTCTCTCTCTC|||||24787|INFO_REALIGN_3_PRIME,|downstream_gene_variant|MODIFIER|MIR33A|ENSG00000207932|transcript|ENST00000385197|miRNA||n.*69_*69delCTCTCTCTCGATTT|||||4675|,|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000435061|protein_coding||c.*770_*770delCTCTCTCTCGATTT|||||714|WARNING_TRANSCRIPT_NO_START_CODON,|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000490262|retained_intron||n.*450_*450delCTCTCTCTCGATTT|||||2684|,|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|22/22|n.*1927_*1940delGATTTCTCTCTCTC||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000491541|processed_transcript|13/13|n.2433_2446delGATTTCTCTCTCTC||||||INFO_REALIGN_3_PRIME 22 42301712 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|19/19|c.*48T>C|||||48|,C|3_prime_UTR_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|22/22|n.*1939T>C|||||24799|,C|downstream_gene_variant|MODIFIER|MIR33A|ENSG00000207932|transcript|ENST00000385197|miRNA||n.*69T>C|||||4696|,C|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000435061|protein_coding||c.*770T>C|||||735|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000490262|retained_intron||n.*450T>C|||||2705|,C|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|22/22|n.*1939T>C||||||,C|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000491541|processed_transcript|13/13|n.2445T>C|||||| 22 42321451 . G A . . ANN=A|missense_variant|MODERATE|TNFRSF13C|ENSG00000159958|transcript|ENST00000291232|protein_coding|3/3|c.475C>T|p.His159Tyr|520/926|475/555|159/184||,A|sequence_feature|LOW|TNFRSF13C|ENSG00000159958|topological_domain:Cytoplasmic|ENST00000291232|protein_coding|3/3|c.475C>T||||||,A|sequence_feature|LOW|TNFRSF13C|ENSG00000159958|topological_domain:Cytoplasmic|ENST00000291232|protein_coding|2/3|c.475C>T||||||,A|upstream_gene_variant|MODIFIER|CTA-250D10.23|ENSG00000260655|transcript|ENST00000566575|lincRNA||n.-1C>T|||||2347|,A|upstream_gene_variant|MODIFIER|MIR378I|ENSG00000263463|transcript|ENST00000582688|miRNA||n.-1C>T|||||2150| 22 42321584 . C T . . ANN=T|sequence_feature|LOW|TNFRSF13C|ENSG00000159958|topological_domain:Cytoplasmic|ENST00000291232|protein_coding|3/3|c.368-26G>A||||||,T|sequence_feature|LOW|TNFRSF13C|ENSG00000159958|topological_domain:Cytoplasmic|ENST00000291232|protein_coding|2/3|c.368-26G>A||||||,T|upstream_gene_variant|MODIFIER|CTA-250D10.23|ENSG00000260655|transcript|ENST00000566575|lincRNA||n.-1G>A|||||2480|,T|upstream_gene_variant|MODIFIER|MIR378I|ENSG00000263463|transcript|ENST00000582688|miRNA||n.-1G>A|||||2283|,T|intron_variant|MODIFIER|TNFRSF13C|ENSG00000159958|transcript|ENST00000291232|protein_coding|2/2|c.368-26G>A|||||| 22 42321591 . A G . . ANN=G|sequence_feature|LOW|TNFRSF13C|ENSG00000159958|topological_domain:Cytoplasmic|ENST00000291232|protein_coding|3/3|c.368-33T>C||||||,G|sequence_feature|LOW|TNFRSF13C|ENSG00000159958|topological_domain:Cytoplasmic|ENST00000291232|protein_coding|2/3|c.368-33T>C||||||,G|upstream_gene_variant|MODIFIER|CTA-250D10.23|ENSG00000260655|transcript|ENST00000566575|lincRNA||n.-1T>C|||||2487|,G|upstream_gene_variant|MODIFIER|MIR378I|ENSG00000263463|transcript|ENST00000582688|miRNA||n.-1T>C|||||2290|,G|intron_variant|MODIFIER|TNFRSF13C|ENSG00000159958|transcript|ENST00000291232|protein_coding|2/2|c.368-33T>C|||||| 22 42322087 . C T . . ANN=T|sequence_feature|LOW|TNFRSF13C|ENSG00000159958|topological_domain:Cytoplasmic|ENST00000291232|protein_coding|3/3|c.367+18G>A||||||,T|sequence_feature|LOW|TNFRSF13C|ENSG00000159958|topological_domain:Cytoplasmic|ENST00000291232|protein_coding|2/3|c.367+18G>A||||||,T|upstream_gene_variant|MODIFIER|CTA-250D10.23|ENSG00000260655|transcript|ENST00000566575|lincRNA||n.-1G>A|||||2983|,T|upstream_gene_variant|MODIFIER|MIR378I|ENSG00000263463|transcript|ENST00000582688|miRNA||n.-1G>A|||||2786|,T|intron_variant|MODIFIER|TNFRSF13C|ENSG00000159958|transcript|ENST00000291232|protein_coding|2/2|c.367+18G>A|||||| 22 42322155 . C T . . ANN=T|missense_variant|MODERATE|TNFRSF13C|ENSG00000159958|transcript|ENST00000291232|protein_coding|2/3|c.317G>A|p.Arg106Gln|362/926|317/555|106/184||,T|sequence_feature|LOW|TNFRSF13C|ENSG00000159958|topological_domain:Cytoplasmic|ENST00000291232|protein_coding|3/3|c.317G>A||||||,T|sequence_feature|LOW|TNFRSF13C|ENSG00000159958|topological_domain:Cytoplasmic|ENST00000291232|protein_coding|2/3|c.317G>A||||||,T|upstream_gene_variant|MODIFIER|CTA-250D10.23|ENSG00000260655|transcript|ENST00000566575|lincRNA||n.-1G>A|||||3051|,T|upstream_gene_variant|MODIFIER|MIR378I|ENSG00000263463|transcript|ENST00000582688|miRNA||n.-1G>A|||||2854| 22 42322190 . G A . . ANN=A|synonymous_variant|LOW|TNFRSF13C|ENSG00000159958|transcript|ENST00000291232|protein_coding|2/3|c.282C>T|p.Val94Val|327/926|282/555|94/184||,A|sequence_feature|LOW|TNFRSF13C|ENSG00000159958|transmembrane_region:Transmembrane_region|ENST00000291232|protein_coding|2/3|c.282C>T||||||,A|upstream_gene_variant|MODIFIER|CTA-250D10.23|ENSG00000260655|transcript|ENST00000566575|lincRNA||n.-1C>T|||||3086|,A|upstream_gene_variant|MODIFIER|MIR378I|ENSG00000263463|transcript|ENST00000582688|miRNA||n.-1C>T|||||2889| 22 42322243 . G A . . ANN=A|synonymous_variant|LOW|TNFRSF13C|ENSG00000159958|transcript|ENST00000291232|protein_coding|2/3|c.229C>T|p.Leu77Leu|274/926|229/555|77/184||,A|sequence_feature|LOW|TNFRSF13C|ENSG00000159958|topological_domain:Extracellular|ENST00000291232|protein_coding|1/3|c.229C>T||||||,A|sequence_feature|LOW|TNFRSF13C|ENSG00000159958|topological_domain:Extracellular|ENST00000291232|protein_coding|2/3|c.229C>T||||||,A|upstream_gene_variant|MODIFIER|CTA-250D10.23|ENSG00000260655|transcript|ENST00000566575|lincRNA||n.-1C>T|||||3139|,A|upstream_gene_variant|MODIFIER|MIR378I|ENSG00000263463|transcript|ENST00000582688|miRNA||n.-1C>T|||||2942| 22 42322716 . G C . . ANN=C|missense_variant|MODERATE|TNFRSF13C|ENSG00000159958|transcript|ENST00000291232|protein_coding|1/3|c.62C>G|p.Pro21Arg|107/926|62/555|21/184||,C|sequence_feature|LOW|TNFRSF13C|ENSG00000159958|topological_domain:Extracellular|ENST00000291232|protein_coding|1/3|c.62C>G||||||,C|sequence_feature|LOW|TNFRSF13C|ENSG00000159958|topological_domain:Extracellular|ENST00000291232|protein_coding|2/3|c.62C>G||||||,C|sequence_feature|LOW|TNFRSF13C|ENSG00000159958|repeat:TNFR-Cys|ENST00000291232|protein_coding|1/3|c.62C>G||||||,C|sequence_feature|LOW|TNFRSF13C|ENSG00000159958|disulfide_bond|ENST00000291232|protein_coding|1/3|c.62C>G||||||,C|upstream_gene_variant|MODIFIER|CTA-250D10.23|ENSG00000260655|transcript|ENST00000566575|lincRNA||n.-1C>G|||||3612|,C|upstream_gene_variant|MODIFIER|MIR378I|ENSG00000263463|transcript|ENST00000582688|miRNA||n.-1C>G|||||3415| 22 42335147 . G A . . ANN=A|synonymous_variant|LOW|CENPM|ENSG00000100162|transcript|ENST00000215980|protein_coding|6/6|c.456C>T|p.Ile152Ile|544/966|456/543|152/180||,A|synonymous_variant|LOW|CENPM|ENSG00000100162|transcript|ENST00000472374|protein_coding|2/2|c.90C>T|p.Ile30Ile|135/541|90/177|30/58||,A|synonymous_variant|LOW|CENPM|ENSG00000100162|transcript|ENST00000402338|protein_coding|5/5|c.354C>T|p.Ile118Ile|596/1002|354/441|118/146||,A|3_prime_UTR_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000404067|protein_coding|4/4|c.*40C>T|||||40|,A|3_prime_UTR_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000407253|protein_coding|5/5|c.*40C>T|||||40|,A|downstream_gene_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000402420|protein_coding||c.*656C>T|||||29| 22 42336172 . G A . . ANN=A|stop_gained|HIGH|CENPM|ENSG00000100162|transcript|ENST00000472374|protein_coding|1/2|c.7C>T|p.Arg3*|52/541|7/177|3/58||,A|downstream_gene_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000396437|retained_intron||n.*689C>T|||||4753|,A|intron_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000215980|protein_coding|5/5|c.403-972C>T||||||,A|intron_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000404067|protein_coding|3/3|c.209-972C>T||||||,A|intron_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000402338|protein_coding|4/4|c.301-972C>T||||||,A|intron_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000407253|protein_coding|4/4|c.311-972C>T||||||,A|intron_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000402420|protein_coding|4/4|c.*8-972C>T|||||| 22 42341201 . G T . . ANN=T|upstream_gene_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000472374|protein_coding||c.-46C>A|||||4978|,T|downstream_gene_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000460824|retained_intron||n.*303C>A|||||1111|,T|intron_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000215980|protein_coding|4/5|c.310+28C>A||||||,T|intron_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000404067|protein_coding|3/3|c.208+28C>A||||||,T|intron_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000402338|protein_coding|3/4|c.208+28C>A||||||,T|intron_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000407253|protein_coding|4/4|c.310+28C>A||||||,T|intron_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000402420|protein_coding|3/4|c.293+28C>A||||||,T|non_coding_exon_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000396437|retained_intron|4/4|n.413C>A|||||| 22 42341205 . G A . . ANN=A|upstream_gene_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000472374|protein_coding||c.-46C>T|||||4982|,A|downstream_gene_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000460824|retained_intron||n.*303C>T|||||1107|,A|intron_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000215980|protein_coding|4/5|c.310+24C>T||||||,A|intron_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000404067|protein_coding|3/3|c.208+24C>T||||||,A|intron_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000402338|protein_coding|3/4|c.208+24C>T||||||,A|intron_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000407253|protein_coding|4/4|c.310+24C>T||||||,A|intron_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000402420|protein_coding|3/4|c.293+24C>T||||||,A|non_coding_exon_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000396437|retained_intron|4/4|n.409C>T|||||| 22 42341308 . A G . . ANN=G|missense_variant|MODERATE|CENPM|ENSG00000100162|transcript|ENST00000402420|protein_coding|3/5|c.214T>C|p.Ser72Pro|492/688|214/378|72/125||,G|splice_region_variant&synonymous_variant|LOW|CENPM|ENSG00000100162|transcript|ENST00000215980|protein_coding|4/6|c.231T>C|p.Ser77Ser|319/966|231/543|77/180||,G|splice_region_variant&synonymous_variant|LOW|CENPM|ENSG00000100162|transcript|ENST00000404067|protein_coding|3/4|c.129T>C|p.Ser43Ser|366/905|129/222|43/73||,G|splice_region_variant&synonymous_variant|LOW|CENPM|ENSG00000100162|transcript|ENST00000402338|protein_coding|3/5|c.129T>C|p.Ser43Ser|371/1002|129/441|43/146||,G|splice_region_variant&synonymous_variant|LOW|CENPM|ENSG00000100162|transcript|ENST00000407253|protein_coding|4/5|c.231T>C|p.Ser77Ser|291/818|231/324|77/107||,G|splice_region_variant&non_coding_exon_variant|LOW|CENPM|ENSG00000100162|transcript|ENST00000396437|retained_intron|4/4|n.306T>C||||||,G|downstream_gene_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000460824|retained_intron||n.*303T>C|||||1004| 22 42341934 . A G . . ANN=G|synonymous_variant|LOW|CENPM|ENSG00000100162|transcript|ENST00000215980|protein_coding|3/6|c.213T>C|p.Asn71Asn|301/966|213/543|71/180||,G|synonymous_variant|LOW|CENPM|ENSG00000100162|transcript|ENST00000404067|protein_coding|2/4|c.111T>C|p.Asn37Asn|348/905|111/222|37/73||,G|synonymous_variant|LOW|CENPM|ENSG00000100162|transcript|ENST00000402338|protein_coding|2/5|c.111T>C|p.Asn37Asn|353/1002|111/441|37/146||,G|synonymous_variant|LOW|CENPM|ENSG00000100162|transcript|ENST00000407253|protein_coding|3/5|c.213T>C|p.Asn71Asn|273/818|213/324|71/107||,G|synonymous_variant|LOW|CENPM|ENSG00000100162|transcript|ENST00000402420|protein_coding|2/5|c.111T>C|p.Asn37Asn|389/688|111/378|37/125||,G|downstream_gene_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000460824|retained_intron||n.*303T>C|||||378|,G|non_coding_exon_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000396437|retained_intron|3/4|n.288T>C|||||| 22 42341979 . G A . . ANN=A|synonymous_variant|LOW|CENPM|ENSG00000100162|transcript|ENST00000215980|protein_coding|3/6|c.168C>T|p.Ser56Ser|256/966|168/543|56/180||,A|synonymous_variant|LOW|CENPM|ENSG00000100162|transcript|ENST00000404067|protein_coding|2/4|c.66C>T|p.Ser22Ser|303/905|66/222|22/73||,A|synonymous_variant|LOW|CENPM|ENSG00000100162|transcript|ENST00000402338|protein_coding|2/5|c.66C>T|p.Ser22Ser|308/1002|66/441|22/146||,A|synonymous_variant|LOW|CENPM|ENSG00000100162|transcript|ENST00000407253|protein_coding|3/5|c.168C>T|p.Ser56Ser|228/818|168/324|56/107||,A|synonymous_variant|LOW|CENPM|ENSG00000100162|transcript|ENST00000402420|protein_coding|2/5|c.66C>T|p.Ser22Ser|344/688|66/378|22/125||,A|downstream_gene_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000460824|retained_intron||n.*303C>T|||||333|,A|non_coding_exon_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000396437|retained_intron|3/4|n.243C>T|||||| 22 42342462 . C T . . ANN=T|synonymous_variant|LOW|CENPM|ENSG00000100162|transcript|ENST00000215980|protein_coding|2/6|c.96G>A|p.Ala32Ala|184/966|96/543|32/180||,T|synonymous_variant|LOW|CENPM|ENSG00000100162|transcript|ENST00000407253|protein_coding|2/5|c.96G>A|p.Ala32Ala|156/818|96/324|32/107||,T|5_prime_UTR_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000404067|protein_coding|1/4|c.-7G>A|||||7|,T|5_prime_UTR_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000402338|protein_coding|1/5|c.-7G>A|||||7|,T|5_prime_UTR_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000402420|protein_coding|1/5|c.-7G>A|||||7|,T|non_coding_exon_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000396437|retained_intron|2/4|n.171G>A||||||,T|non_coding_exon_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000460824|retained_intron|2/2|n.153G>A|||||| 22 42342470 . G A . . ANN=A|stop_gained|HIGH|CENPM|ENSG00000100162|transcript|ENST00000215980|protein_coding|2/6|c.88C>T|p.Gln30*|176/966|88/543|30/180||,A|stop_gained|HIGH|CENPM|ENSG00000100162|transcript|ENST00000407253|protein_coding|2/5|c.88C>T|p.Gln30*|148/818|88/324|30/107||,A|5_prime_UTR_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000404067|protein_coding|1/4|c.-15C>T|||||15|,A|5_prime_UTR_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000402338|protein_coding|1/5|c.-15C>T|||||15|,A|5_prime_UTR_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000402420|protein_coding|1/5|c.-15C>T|||||15|,A|non_coding_exon_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000396437|retained_intron|2/4|n.163C>T||||||,A|non_coding_exon_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000460824|retained_intron|2/2|n.145C>T||||||;LOF=(CENPM|ENSG00000100162|8|0.25);NMD=(CENPM|ENSG00000100162|8|0.25) 22 42342977 . G C . . ANN=C|upstream_gene_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000404067|protein_coding||c.-238C>G|||||285|,C|upstream_gene_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000402338|protein_coding||c.-243C>G|||||280|,C|upstream_gene_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000402420|protein_coding||c.-279C>G|||||244|,C|intron_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000215980|protein_coding|1/5|c.57+47C>G||||||,C|intron_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000407253|protein_coding|1/4|c.57+47C>G||||||,C|intron_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000396437|retained_intron|1/3|n.132+47C>G||||||,C|intron_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000460824|retained_intron|1/1|n.114+47C>G|||||| 22 42342995 . G T . . ANN=T|upstream_gene_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000404067|protein_coding||c.-238C>A|||||303|,T|upstream_gene_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000402338|protein_coding||c.-243C>A|||||298|,T|upstream_gene_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000402420|protein_coding||c.-279C>A|||||262|,T|intron_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000215980|protein_coding|1/5|c.57+29C>A||||||,T|intron_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000407253|protein_coding|1/4|c.57+29C>A||||||,T|intron_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000396437|retained_intron|1/3|n.132+29C>A||||||,T|intron_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000460824|retained_intron|1/1|n.114+29C>A|||||| 22 42342996 . C T . . ANN=T|upstream_gene_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000404067|protein_coding||c.-238G>A|||||304|,T|upstream_gene_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000402338|protein_coding||c.-243G>A|||||299|,T|upstream_gene_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000402420|protein_coding||c.-279G>A|||||263|,T|intron_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000215980|protein_coding|1/5|c.57+28G>A||||||,T|intron_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000407253|protein_coding|1/4|c.57+28G>A||||||,T|intron_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000396437|retained_intron|1/3|n.132+28G>A||||||,T|intron_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000460824|retained_intron|1/1|n.114+28G>A|||||| 22 42343017 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|CENPM|ENSG00000100162|transcript|ENST00000215980|protein_coding|1/5|c.57+7G>A||||||,T|splice_region_variant&intron_variant|LOW|CENPM|ENSG00000100162|transcript|ENST00000407253|protein_coding|1/4|c.57+7G>A||||||,T|splice_region_variant&intron_variant|LOW|CENPM|ENSG00000100162|transcript|ENST00000396437|retained_intron|1/3|n.132+7G>A||||||,T|splice_region_variant&intron_variant|LOW|CENPM|ENSG00000100162|transcript|ENST00000460824|retained_intron|1/1|n.114+7G>A||||||,T|upstream_gene_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000404067|protein_coding||c.-238G>A|||||325|,T|upstream_gene_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000402338|protein_coding||c.-243G>A|||||320|,T|upstream_gene_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000402420|protein_coding||c.-279G>A|||||284| 22 42343091 . G A . . ANN=A|5_prime_UTR_premature_start_codon_gain_variant|LOW|CENPM|ENSG00000100162|transcript|ENST00000215980|protein_coding|1/6|c.-11C>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|CENPM|ENSG00000100162|transcript|ENST00000407253|protein_coding|1/5|c.-11C>T||||||,A|5_prime_UTR_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000215980|protein_coding|1/6|c.-11C>T|||||11|,A|5_prime_UTR_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000407253|protein_coding|1/5|c.-11C>T|||||11|,A|upstream_gene_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000404067|protein_coding||c.-238C>T|||||399|,A|upstream_gene_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000402338|protein_coding||c.-243C>T|||||394|,A|upstream_gene_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000402420|protein_coding||c.-279C>T|||||358|,A|non_coding_exon_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000396437|retained_intron|1/4|n.65C>T||||||,A|non_coding_exon_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000460824|retained_intron|1/2|n.47C>T|||||| 22 42377667 . C A . . ANN=A|missense_variant|MODERATE|SEPT3|ENSG00000100167|transcript|ENST00000396426|protein_coding|2/11|c.29C>A|p.Thr10Lys|284/2586|29/1077|10/358||,A|missense_variant|MODERATE|SEPT3|ENSG00000100167|transcript|ENST00000328414|protein_coding|2/9|c.29C>A|p.Thr10Lys|167/2258|29/252|10/83||,A|missense_variant|MODERATE|SEPT3|ENSG00000100167|transcript|ENST00000396425|protein_coding|2/10|c.29C>A|p.Thr10Lys|160/4649|29/1053|10/350||,A|5_prime_UTR_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000449288|protein_coding|2/6|c.-11C>A|||||11|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000460267|retained_intron||n.-1C>A|||||3979|,A|intron_variant|MODIFIER|CTA-250D10.19|ENSG00000224883|transcript|ENST00000424613|antisense|2/2|n.263+83G>T||||||,A|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000406029|protein_coding|1/9|c.11-4321C>A||||||,A|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000291236|protein_coding|1/8|c.11-4321C>A||||||,A|non_coding_exon_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396417|nonsense_mediated_decay|2/9|n.29C>A|||||| 22 42377851 . C T . . ANN=T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|9/11|c.202+11C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|2/11|c.202+11C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|3/11|c.202+11C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|7/11|c.202+11C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|10/11|c.202+11C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|5/11|c.202+11C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|4/11|c.202+11C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|6/11|c.202+11C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|8/11|c.202+11C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|beta_strand|ENST00000396426|protein_coding|2/11|c.202+11C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|beta_strand|ENST00000396426|protein_coding|3/11|c.202+11C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|nucleotide_phosphate-binding_region:GTP|ENST00000396426|protein_coding|2/11|c.202+11C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|nucleotide_phosphate-binding_region:GTP|ENST00000396426|protein_coding|3/11|c.202+11C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|9/10|c.202+11C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|2/10|c.202+11C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|3/10|c.202+11C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|7/10|c.202+11C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|10/10|c.202+11C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|5/10|c.202+11C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|4/10|c.202+11C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|6/10|c.202+11C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|8/10|c.202+11C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|beta_strand|ENST00000396425|protein_coding|2/10|c.202+11C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|beta_strand|ENST00000396425|protein_coding|3/10|c.202+11C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|nucleotide_phosphate-binding_region:GTP|ENST00000396425|protein_coding|2/10|c.202+11C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|nucleotide_phosphate-binding_region:GTP|ENST00000396425|protein_coding|3/10|c.202+11C>T||||||,T|upstream_gene_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000460267|retained_intron||n.-1C>T|||||3795|,T|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396426|protein_coding|2/10|c.202+11C>T||||||,T|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000449288|protein_coding|2/5|c.163+11C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000406029|protein_coding|1/9|c.11-4137C>T||||||,T|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000328414|protein_coding|2/8|c.202+11C>T||||||,T|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396425|protein_coding|2/9|c.202+11C>T||||||,T|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000291236|protein_coding|1/8|c.11-4137C>T||||||,T|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396417|nonsense_mediated_decay|2/8|n.202+11C>T||||||,T|non_coding_exon_variant|MODIFIER|CTA-250D10.19|ENSG00000224883|transcript|ENST00000424613|antisense|2/3|n.162G>A|||||| 22 42377878 . G A . . ANN=A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|9/11|c.202+38G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|2/11|c.202+38G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|3/11|c.202+38G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|7/11|c.202+38G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|10/11|c.202+38G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|5/11|c.202+38G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|4/11|c.202+38G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|6/11|c.202+38G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|8/11|c.202+38G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|beta_strand|ENST00000396426|protein_coding|2/11|c.202+38G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|beta_strand|ENST00000396426|protein_coding|3/11|c.202+38G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|nucleotide_phosphate-binding_region:GTP|ENST00000396426|protein_coding|2/11|c.202+38G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|nucleotide_phosphate-binding_region:GTP|ENST00000396426|protein_coding|3/11|c.202+38G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|9/10|c.202+38G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|2/10|c.202+38G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|3/10|c.202+38G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|7/10|c.202+38G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|10/10|c.202+38G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|5/10|c.202+38G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|4/10|c.202+38G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|6/10|c.202+38G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|8/10|c.202+38G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|beta_strand|ENST00000396425|protein_coding|2/10|c.202+38G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|beta_strand|ENST00000396425|protein_coding|3/10|c.202+38G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|nucleotide_phosphate-binding_region:GTP|ENST00000396425|protein_coding|2/10|c.202+38G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|nucleotide_phosphate-binding_region:GTP|ENST00000396425|protein_coding|3/10|c.202+38G>A||||||,A|upstream_gene_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000460267|retained_intron||n.-1G>A|||||3768|,A|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396426|protein_coding|2/10|c.202+38G>A||||||,A|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000449288|protein_coding|2/5|c.163+38G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000406029|protein_coding|1/9|c.11-4110G>A||||||,A|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000328414|protein_coding|2/8|c.202+38G>A||||||,A|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396425|protein_coding|2/9|c.202+38G>A||||||,A|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000291236|protein_coding|1/8|c.11-4110G>A||||||,A|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396417|nonsense_mediated_decay|2/8|n.202+38G>A||||||,A|non_coding_exon_variant|MODIFIER|CTA-250D10.19|ENSG00000224883|transcript|ENST00000424613|antisense|2/3|n.135C>T|||||| 22 42382109 . C T . . ANN=T|synonymous_variant|LOW|SEPT3|ENSG00000100167|transcript|ENST00000396426|protein_coding|3/11|c.324C>T|p.Ile108Ile|579/2586|324/1077|108/358||,T|synonymous_variant|LOW|SEPT3|ENSG00000100167|transcript|ENST00000449288|protein_coding|3/6|c.285C>T|p.Ile95Ile|626/876|285/535|95/177||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|SEPT3|ENSG00000100167|transcript|ENST00000406029|protein_coding|2/10|c.132C>T|p.Ile44Ile|352/1866|132/885|44/294||,T|synonymous_variant|LOW|SEPT3|ENSG00000100167|transcript|ENST00000396425|protein_coding|3/10|c.324C>T|p.Ile108Ile|455/4649|324/1053|108/350||,T|synonymous_variant|LOW|SEPT3|ENSG00000100167|transcript|ENST00000291236|protein_coding|2/9|c.132C>T|p.Ile44Ile|207/991|132/861|44/286||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|9/11|c.324C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|2/11|c.324C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|3/11|c.324C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|7/11|c.324C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|10/11|c.324C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|5/11|c.324C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|4/11|c.324C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|6/11|c.324C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|8/11|c.324C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|beta_strand|ENST00000396426|protein_coding|3/11|c.324C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|beta_strand|ENST00000396426|protein_coding|4/11|c.324C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|9/10|c.324C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|2/10|c.324C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|3/10|c.324C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|7/10|c.324C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|10/10|c.324C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|5/10|c.324C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|4/10|c.324C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|6/10|c.324C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|8/10|c.324C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|beta_strand|ENST00000396425|protein_coding|3/10|c.324C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|beta_strand|ENST00000396425|protein_coding|4/10|c.324C>T||||||,T|upstream_gene_variant|MODIFIER|CTA-250D10.19|ENSG00000224883|transcript|ENST00000424613|antisense||n.-1G>A|||||3888|,T|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000328414|protein_coding|2/8|c.203-1517C>T||||||,T|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396417|nonsense_mediated_decay|2/8|n.203-1517C>T||||||,T|non_coding_exon_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000460267|retained_intron|1/3|n.464C>T|||||| 22 42382126 . A G . . ANN=G|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|9/11|c.331+10A>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|2/11|c.331+10A>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|3/11|c.331+10A>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|7/11|c.331+10A>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|10/11|c.331+10A>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|5/11|c.331+10A>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|4/11|c.331+10A>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|6/11|c.331+10A>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|8/11|c.331+10A>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|beta_strand|ENST00000396426|protein_coding|3/11|c.331+10A>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|beta_strand|ENST00000396426|protein_coding|4/11|c.331+10A>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|9/10|c.331+10A>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|2/10|c.331+10A>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|3/10|c.331+10A>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|7/10|c.331+10A>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|10/10|c.331+10A>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|5/10|c.331+10A>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|4/10|c.331+10A>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|6/10|c.331+10A>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|8/10|c.331+10A>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|beta_strand|ENST00000396425|protein_coding|3/10|c.331+10A>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|beta_strand|ENST00000396425|protein_coding|4/10|c.331+10A>G||||||,G|upstream_gene_variant|MODIFIER|CTA-250D10.19|ENSG00000224883|transcript|ENST00000424613|antisense||n.-1T>C|||||3905|,G|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396426|protein_coding|3/10|c.331+10A>G||||||,G|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000449288|protein_coding|3/5|c.292+10A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000406029|protein_coding|2/9|c.139+10A>G||||||,G|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000328414|protein_coding|2/8|c.203-1500A>G||||||,G|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396425|protein_coding|3/9|c.331+10A>G||||||,G|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000291236|protein_coding|2/8|c.139+10A>G||||||,G|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396417|nonsense_mediated_decay|2/8|n.203-1500A>G||||||,G|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000460267|retained_intron|1/2|n.471+10A>G|||||| 22 42383244 . C T . . ANN=T|synonymous_variant|LOW|SEPT3|ENSG00000100167|transcript|ENST00000396426|protein_coding|4/11|c.366C>T|p.Thr122Thr|621/2586|366/1077|122/358||,T|synonymous_variant|LOW|SEPT3|ENSG00000100167|transcript|ENST00000449288|protein_coding|4/6|c.327C>T|p.Thr109Thr|668/876|327/535|109/177||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|SEPT3|ENSG00000100167|transcript|ENST00000406029|protein_coding|3/10|c.174C>T|p.Thr58Thr|394/1866|174/885|58/294||,T|synonymous_variant|LOW|SEPT3|ENSG00000100167|transcript|ENST00000396425|protein_coding|4/10|c.366C>T|p.Thr122Thr|497/4649|366/1053|122/350||,T|synonymous_variant|LOW|SEPT3|ENSG00000100167|transcript|ENST00000291236|protein_coding|3/9|c.174C>T|p.Thr58Thr|249/991|174/861|58/286||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|9/11|c.366C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|2/11|c.366C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|3/11|c.366C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|7/11|c.366C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|10/11|c.366C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|5/11|c.366C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|4/11|c.366C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|6/11|c.366C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|8/11|c.366C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|beta_strand|ENST00000396426|protein_coding|4/11|c.366C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|9/10|c.366C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|2/10|c.366C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|3/10|c.366C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|7/10|c.366C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|10/10|c.366C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|5/10|c.366C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|4/10|c.366C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|6/10|c.366C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|8/10|c.366C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|beta_strand|ENST00000396425|protein_coding|4/10|c.366C>T||||||,T|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000328414|protein_coding|2/8|c.203-382C>T||||||,T|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396417|nonsense_mediated_decay|2/8|n.203-382C>T||||||,T|non_coding_exon_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000460267|retained_intron|2/3|n.506C>T|||||| 22 42383583 . T C . . ANN=C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|9/11|c.414-43T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|2/11|c.414-43T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|3/11|c.414-43T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|7/11|c.414-43T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|10/11|c.414-43T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|5/11|c.414-43T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|4/11|c.414-43T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|6/11|c.414-43T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|8/11|c.414-43T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|9/10|c.414-43T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|2/10|c.414-43T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|3/10|c.414-43T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|7/10|c.414-43T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|10/10|c.414-43T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|5/10|c.414-43T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|4/10|c.414-43T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|6/10|c.414-43T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|8/10|c.414-43T>C||||||,C|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396426|protein_coding|4/10|c.414-43T>C||||||,C|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000449288|protein_coding|4/5|c.375-43T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000406029|protein_coding|3/9|c.222-43T>C||||||,C|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000328414|protein_coding|2/8|c.203-43T>C||||||,C|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396425|protein_coding|4/9|c.414-43T>C||||||,C|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000291236|protein_coding|3/8|c.222-43T>C||||||,C|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396417|nonsense_mediated_decay|2/8|n.203-43T>C||||||,C|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000460267|retained_intron|2/2|n.554-43T>C|||||| 22 42385696 . G T . . ANN=T|splice_region_variant&intron_variant|LOW|SEPT3|ENSG00000100167|transcript|ENST00000396426|protein_coding|6/10|c.669+8G>T||||||,T|splice_region_variant&intron_variant|LOW|SEPT3|ENSG00000100167|transcript|ENST00000406029|protein_coding|5/9|c.477+8G>T||||||,T|splice_region_variant&intron_variant|LOW|SEPT3|ENSG00000100167|transcript|ENST00000328414|protein_coding|4/8|c.*206+8G>T||||||,T|splice_region_variant&intron_variant|LOW|SEPT3|ENSG00000100167|transcript|ENST00000396425|protein_coding|6/9|c.669+8G>T||||||,T|splice_region_variant&intron_variant|LOW|SEPT3|ENSG00000100167|transcript|ENST00000291236|protein_coding|5/8|c.477+8G>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|9/11|c.669+8G>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|2/11|c.669+8G>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|3/11|c.669+8G>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|7/11|c.669+8G>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|10/11|c.669+8G>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|5/11|c.669+8G>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|4/11|c.669+8G>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|6/11|c.669+8G>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|8/11|c.669+8G>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|helix|ENST00000396426|protein_coding|7/11|c.669+8G>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|helix|ENST00000396426|protein_coding|6/11|c.669+8G>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|9/10|c.669+8G>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|2/10|c.669+8G>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|3/10|c.669+8G>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|7/10|c.669+8G>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|10/10|c.669+8G>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|5/10|c.669+8G>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|4/10|c.669+8G>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|6/10|c.669+8G>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|8/10|c.669+8G>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|helix|ENST00000396425|protein_coding|7/10|c.669+8G>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|helix|ENST00000396425|protein_coding|6/10|c.669+8G>T||||||,T|downstream_gene_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000449288|protein_coding||c.*876G>T|||||103|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000460267|retained_intron||n.*621G>T|||||2003|,T|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396417|nonsense_mediated_decay|4/8|n.*131+83G>T|||||| 22 42385700 . C G . . ANN=G|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|9/11|c.669+12C>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|2/11|c.669+12C>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|3/11|c.669+12C>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|7/11|c.669+12C>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|10/11|c.669+12C>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|5/11|c.669+12C>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|4/11|c.669+12C>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|6/11|c.669+12C>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|8/11|c.669+12C>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|helix|ENST00000396426|protein_coding|7/11|c.669+12C>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|helix|ENST00000396426|protein_coding|6/11|c.669+12C>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|9/10|c.669+12C>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|2/10|c.669+12C>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|3/10|c.669+12C>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|7/10|c.669+12C>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|10/10|c.669+12C>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|5/10|c.669+12C>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|4/10|c.669+12C>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|6/10|c.669+12C>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|8/10|c.669+12C>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|helix|ENST00000396425|protein_coding|7/10|c.669+12C>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|helix|ENST00000396425|protein_coding|6/10|c.669+12C>G||||||,G|downstream_gene_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000449288|protein_coding||c.*876C>G|||||107|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000460267|retained_intron||n.*621C>G|||||2007|,G|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396426|protein_coding|6/10|c.669+12C>G||||||,G|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000406029|protein_coding|5/9|c.477+12C>G||||||,G|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000328414|protein_coding|4/8|c.*206+12C>G||||||,G|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396425|protein_coding|6/9|c.669+12C>G||||||,G|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000291236|protein_coding|5/8|c.477+12C>G||||||,G|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396417|nonsense_mediated_decay|4/8|n.*131+87C>G|||||| 22 42385701 . C G . . ANN=G|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|9/11|c.669+13C>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|2/11|c.669+13C>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|3/11|c.669+13C>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|7/11|c.669+13C>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|10/11|c.669+13C>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|5/11|c.669+13C>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|4/11|c.669+13C>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|6/11|c.669+13C>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|8/11|c.669+13C>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|helix|ENST00000396426|protein_coding|7/11|c.669+13C>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|helix|ENST00000396426|protein_coding|6/11|c.669+13C>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|9/10|c.669+13C>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|2/10|c.669+13C>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|3/10|c.669+13C>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|7/10|c.669+13C>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|10/10|c.669+13C>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|5/10|c.669+13C>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|4/10|c.669+13C>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|6/10|c.669+13C>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|8/10|c.669+13C>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|helix|ENST00000396425|protein_coding|7/10|c.669+13C>G||||||,G|sequence_feature|LOW|SEPT3|ENSG00000100167|helix|ENST00000396425|protein_coding|6/10|c.669+13C>G||||||,G|downstream_gene_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000449288|protein_coding||c.*876C>G|||||108|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000460267|retained_intron||n.*621C>G|||||2008|,G|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396426|protein_coding|6/10|c.669+13C>G||||||,G|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000406029|protein_coding|5/9|c.477+13C>G||||||,G|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000328414|protein_coding|4/8|c.*206+13C>G||||||,G|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396425|protein_coding|6/9|c.669+13C>G||||||,G|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000291236|protein_coding|5/8|c.477+13C>G||||||,G|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396417|nonsense_mediated_decay|4/8|n.*131+88C>G|||||| 22 42385720 . C T . . ANN=T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|9/11|c.669+32C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|2/11|c.669+32C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|3/11|c.669+32C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|7/11|c.669+32C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|10/11|c.669+32C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|5/11|c.669+32C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|4/11|c.669+32C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|6/11|c.669+32C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|8/11|c.669+32C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|helix|ENST00000396426|protein_coding|7/11|c.669+32C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|helix|ENST00000396426|protein_coding|6/11|c.669+32C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|9/10|c.669+32C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|2/10|c.669+32C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|3/10|c.669+32C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|7/10|c.669+32C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|10/10|c.669+32C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|5/10|c.669+32C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|4/10|c.669+32C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|6/10|c.669+32C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|8/10|c.669+32C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|helix|ENST00000396425|protein_coding|7/10|c.669+32C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|helix|ENST00000396425|protein_coding|6/10|c.669+32C>T||||||,T|downstream_gene_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000449288|protein_coding||c.*876C>T|||||127|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000460267|retained_intron||n.*621C>T|||||2027|,T|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396426|protein_coding|6/10|c.669+32C>T||||||,T|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000406029|protein_coding|5/9|c.477+32C>T||||||,T|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000328414|protein_coding|4/8|c.*206+32C>T||||||,T|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396425|protein_coding|6/9|c.669+32C>T||||||,T|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000291236|protein_coding|5/8|c.477+32C>T||||||,T|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396417|nonsense_mediated_decay|4/8|n.*131+107C>T|||||| 22 42385731 . C T . . ANN=T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|9/11|c.669+43C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|2/11|c.669+43C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|3/11|c.669+43C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|7/11|c.669+43C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|10/11|c.669+43C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|5/11|c.669+43C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|4/11|c.669+43C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|6/11|c.669+43C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|8/11|c.669+43C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|helix|ENST00000396426|protein_coding|7/11|c.669+43C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|helix|ENST00000396426|protein_coding|6/11|c.669+43C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|9/10|c.669+43C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|2/10|c.669+43C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|3/10|c.669+43C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|7/10|c.669+43C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|10/10|c.669+43C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|5/10|c.669+43C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|4/10|c.669+43C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|6/10|c.669+43C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|8/10|c.669+43C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|helix|ENST00000396425|protein_coding|7/10|c.669+43C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|helix|ENST00000396425|protein_coding|6/10|c.669+43C>T||||||,T|downstream_gene_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000449288|protein_coding||c.*876C>T|||||138|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000460267|retained_intron||n.*621C>T|||||2038|,T|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396426|protein_coding|6/10|c.669+43C>T||||||,T|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000406029|protein_coding|5/9|c.477+43C>T||||||,T|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000328414|protein_coding|4/8|c.*206+43C>T||||||,T|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396425|protein_coding|6/9|c.669+43C>T||||||,T|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000291236|protein_coding|5/8|c.477+43C>T||||||,T|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396417|nonsense_mediated_decay|4/8|n.*131+118C>T|||||| 22 42387568 . C T . . ANN=T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|9/11|c.670-9C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|2/11|c.670-9C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|3/11|c.670-9C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|7/11|c.670-9C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|10/11|c.670-9C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|5/11|c.670-9C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|4/11|c.670-9C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|6/11|c.670-9C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|8/11|c.670-9C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|helix|ENST00000396426|protein_coding|7/11|c.670-9C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|helix|ENST00000396426|protein_coding|6/11|c.670-9C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|9/10|c.670-9C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|2/10|c.670-9C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|3/10|c.670-9C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|7/10|c.670-9C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|10/10|c.670-9C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|5/10|c.670-9C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|4/10|c.670-9C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|6/10|c.670-9C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|8/10|c.670-9C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|helix|ENST00000396425|protein_coding|7/10|c.670-9C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|helix|ENST00000396425|protein_coding|6/10|c.670-9C>T||||||,T|downstream_gene_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000449288|protein_coding||c.*876C>T|||||1975|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000460267|retained_intron||n.*621C>T|||||3875|,T|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396426|protein_coding|6/10|c.670-9C>T||||||,T|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000406029|protein_coding|5/9|c.478-9C>T||||||,T|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000328414|protein_coding|4/8|c.*207-9C>T||||||,T|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396425|protein_coding|6/9|c.670-9C>T||||||,T|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000291236|protein_coding|5/8|c.478-9C>T||||||,T|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396417|nonsense_mediated_decay|4/8|n.*132-18C>T|||||| 22 42387596 . T C . . ANN=C|missense_variant|MODERATE|SEPT3|ENSG00000100167|transcript|ENST00000396426|protein_coding|7/11|c.689T>C|p.Val230Ala|944/2586|689/1077|230/358||,C|missense_variant|MODERATE|SEPT3|ENSG00000100167|transcript|ENST00000406029|protein_coding|6/10|c.497T>C|p.Val166Ala|717/1866|497/885|166/294||,C|missense_variant|MODERATE|SEPT3|ENSG00000100167|transcript|ENST00000396425|protein_coding|7/10|c.689T>C|p.Val230Ala|820/4649|689/1053|230/350||,C|missense_variant|MODERATE|SEPT3|ENSG00000100167|transcript|ENST00000291236|protein_coding|6/9|c.497T>C|p.Val166Ala|572/991|497/861|166/286||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|9/11|c.689T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|2/11|c.689T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|3/11|c.689T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|7/11|c.689T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|10/11|c.689T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|5/11|c.689T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|4/11|c.689T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|6/11|c.689T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|8/11|c.689T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|helix|ENST00000396426|protein_coding|7/11|c.689T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|helix|ENST00000396426|protein_coding|6/11|c.689T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|9/10|c.689T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|2/10|c.689T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|3/10|c.689T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|7/10|c.689T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|10/10|c.689T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|5/10|c.689T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|4/10|c.689T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|6/10|c.689T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|8/10|c.689T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|helix|ENST00000396425|protein_coding|7/10|c.689T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|helix|ENST00000396425|protein_coding|6/10|c.689T>C||||||,C|3_prime_UTR_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000328414|protein_coding|5/9|c.*226T>C|||||3921|,C|3_prime_UTR_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396417|nonsense_mediated_decay|5/9|n.*142T>C|||||3921|,C|downstream_gene_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000449288|protein_coding||c.*876T>C|||||2003|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000460267|retained_intron||n.*621T>C|||||3903|,C|non_coding_exon_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396417|nonsense_mediated_decay|5/9|n.*142T>C|||||| 22 42387654 . G A . . ANN=A|synonymous_variant|LOW|SEPT3|ENSG00000100167|transcript|ENST00000396426|protein_coding|7/11|c.747G>A|p.Thr249Thr|1002/2586|747/1077|249/358||,A|synonymous_variant|LOW|SEPT3|ENSG00000100167|transcript|ENST00000406029|protein_coding|6/10|c.555G>A|p.Thr185Thr|775/1866|555/885|185/294||,A|synonymous_variant|LOW|SEPT3|ENSG00000100167|transcript|ENST00000396425|protein_coding|7/10|c.747G>A|p.Thr249Thr|878/4649|747/1053|249/350||,A|synonymous_variant|LOW|SEPT3|ENSG00000100167|transcript|ENST00000291236|protein_coding|6/9|c.555G>A|p.Thr185Thr|630/991|555/861|185/286||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|9/11|c.747G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|2/11|c.747G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|3/11|c.747G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|7/11|c.747G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|10/11|c.747G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|5/11|c.747G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|4/11|c.747G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|6/11|c.747G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|8/11|c.747G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|helix|ENST00000396426|protein_coding|7/11|c.747G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|helix|ENST00000396426|protein_coding|8/11|c.747G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|9/10|c.747G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|2/10|c.747G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|3/10|c.747G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|7/10|c.747G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|10/10|c.747G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|5/10|c.747G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|4/10|c.747G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|6/10|c.747G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|8/10|c.747G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|helix|ENST00000396425|protein_coding|7/10|c.747G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|helix|ENST00000396425|protein_coding|8/10|c.747G>A||||||,A|3_prime_UTR_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000328414|protein_coding|5/9|c.*284G>A|||||3979|,A|3_prime_UTR_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396417|nonsense_mediated_decay|5/9|n.*200G>A|||||3979|,A|downstream_gene_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000449288|protein_coding||c.*876G>A|||||2061|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000460267|retained_intron||n.*621G>A|||||3961|,A|non_coding_exon_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396417|nonsense_mediated_decay|5/9|n.*200G>A|||||| 22 42387681 . C T . . ANN=T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|9/11|c.765+9C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|2/11|c.765+9C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|3/11|c.765+9C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|7/11|c.765+9C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|10/11|c.765+9C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|5/11|c.765+9C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|4/11|c.765+9C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|6/11|c.765+9C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|8/11|c.765+9C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|helix|ENST00000396426|protein_coding|7/11|c.765+9C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|helix|ENST00000396426|protein_coding|8/11|c.765+9C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|9/10|c.765+9C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|2/10|c.765+9C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|3/10|c.765+9C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|7/10|c.765+9C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|10/10|c.765+9C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|5/10|c.765+9C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|4/10|c.765+9C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|6/10|c.765+9C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|8/10|c.765+9C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|helix|ENST00000396425|protein_coding|7/10|c.765+9C>T||||||,T|sequence_feature|LOW|SEPT3|ENSG00000100167|helix|ENST00000396425|protein_coding|8/10|c.765+9C>T||||||,T|downstream_gene_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000449288|protein_coding||c.*876C>T|||||2088|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000460267|retained_intron||n.*621C>T|||||3988|,T|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396426|protein_coding|7/10|c.765+9C>T||||||,T|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000406029|protein_coding|6/9|c.573+9C>T||||||,T|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000328414|protein_coding|5/8|c.*302+9C>T||||||,T|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396425|protein_coding|7/9|c.765+9C>T||||||,T|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000291236|protein_coding|6/8|c.573+9C>T||||||,T|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396417|nonsense_mediated_decay|5/8|n.*218+9C>T|||||| 22 42387705 . G A . . ANN=A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|9/11|c.765+33G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|2/11|c.765+33G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|3/11|c.765+33G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|7/11|c.765+33G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|10/11|c.765+33G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|5/11|c.765+33G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|4/11|c.765+33G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|6/11|c.765+33G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|8/11|c.765+33G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|helix|ENST00000396426|protein_coding|7/11|c.765+33G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|helix|ENST00000396426|protein_coding|8/11|c.765+33G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|9/10|c.765+33G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|2/10|c.765+33G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|3/10|c.765+33G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|7/10|c.765+33G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|10/10|c.765+33G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|5/10|c.765+33G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|4/10|c.765+33G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|6/10|c.765+33G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|8/10|c.765+33G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|helix|ENST00000396425|protein_coding|7/10|c.765+33G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|helix|ENST00000396425|protein_coding|8/10|c.765+33G>A||||||,A|downstream_gene_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000449288|protein_coding||c.*876G>A|||||2112|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000460267|retained_intron||n.*621G>A|||||4012|,A|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396426|protein_coding|7/10|c.765+33G>A||||||,A|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000406029|protein_coding|6/9|c.573+33G>A||||||,A|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000328414|protein_coding|5/8|c.*302+33G>A||||||,A|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396425|protein_coding|7/9|c.765+33G>A||||||,A|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000291236|protein_coding|6/8|c.573+33G>A||||||,A|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396417|nonsense_mediated_decay|5/8|n.*218+33G>A|||||| 22 42388638 . G A . . ANN=A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|9/11|c.766-30G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|2/11|c.766-30G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|3/11|c.766-30G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|7/11|c.766-30G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|10/11|c.766-30G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|5/11|c.766-30G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|4/11|c.766-30G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|6/11|c.766-30G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|8/11|c.766-30G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|helix|ENST00000396426|protein_coding|7/11|c.766-30G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|helix|ENST00000396426|protein_coding|8/11|c.766-30G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|9/10|c.766-30G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|2/10|c.766-30G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|3/10|c.766-30G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|7/10|c.766-30G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|10/10|c.766-30G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|5/10|c.766-30G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|4/10|c.766-30G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|6/10|c.766-30G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|8/10|c.766-30G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|helix|ENST00000396425|protein_coding|7/10|c.766-30G>A||||||,A|sequence_feature|LOW|SEPT3|ENSG00000100167|helix|ENST00000396425|protein_coding|8/10|c.766-30G>A||||||,A|downstream_gene_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000449288|protein_coding||c.*876G>A|||||3045|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000460267|retained_intron||n.*621G>A|||||4945|,A|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396426|protein_coding|7/10|c.766-30G>A||||||,A|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000406029|protein_coding|6/9|c.574-30G>A||||||,A|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000328414|protein_coding|5/8|c.*303-30G>A||||||,A|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396425|protein_coding|7/9|c.766-30G>A||||||,A|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000291236|protein_coding|6/8|c.574-30G>A||||||,A|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396417|nonsense_mediated_decay|5/8|n.*219-30G>A|||||| 22 42390393 . G C . . ANN=C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|9/11|c.917+48G>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|2/11|c.917+48G>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|3/11|c.917+48G>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|7/11|c.917+48G>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|10/11|c.917+48G>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|5/11|c.917+48G>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|4/11|c.917+48G>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|6/11|c.917+48G>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|8/11|c.917+48G>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|turn|ENST00000396426|protein_coding|9/11|c.917+48G>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|turn|ENST00000396426|protein_coding|10/11|c.917+48G>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|9/10|c.917+48G>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|2/10|c.917+48G>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|3/10|c.917+48G>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|7/10|c.917+48G>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|10/10|c.917+48G>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|5/10|c.917+48G>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|4/10|c.917+48G>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|6/10|c.917+48G>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|8/10|c.917+48G>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|turn|ENST00000396425|protein_coding|9/10|c.917+48G>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|turn|ENST00000396425|protein_coding|10/10|c.917+48G>C||||||,C|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000328823|protein_coding||c.-32G>C|||||4399|,C|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000412113|nonsense_mediated_decay||n.-95G>C|||||4336|,C|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000329620|nonsense_mediated_decay||n.-95G>C|||||4336|,C|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay||n.-48G>C|||||4383|,C|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000475341|processed_transcript||n.-1G>C|||||4399|,C|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000461730|processed_transcript||n.-1G>C|||||4404|,C|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay||n.-27G>C|||||4404|,C|downstream_gene_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000449288|protein_coding||c.*876G>C|||||4800|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396426|protein_coding|9/10|c.917+48G>C||||||,C|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000406029|protein_coding|8/9|c.725+48G>C||||||,C|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000328414|protein_coding|7/8|c.*454+48G>C||||||,C|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396425|protein_coding|9/9|c.917+48G>C||||||,C|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000291236|protein_coding|8/8|c.725+48G>C||||||,C|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396417|nonsense_mediated_decay|7/8|n.*370+48G>C|||||| 22 42390746 . G A . . ANN=A|missense_variant|MODERATE|SEPT3|ENSG00000100167|transcript|ENST00000396425|protein_coding|10/10|c.1039G>A|p.Asp347Asn|1170/4649|1039/1053|347/350||,A|missense_variant|MODERATE|SEPT3|ENSG00000100167|transcript|ENST00000291236|protein_coding|9/9|c.847G>A|p.Asp283Asn|922/991|847/861|283/286||,A|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000328823|protein_coding||c.-32G>A|||||4046|,A|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000412113|nonsense_mediated_decay||n.-95G>A|||||3983|,A|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000329620|nonsense_mediated_decay||n.-95G>A|||||3983|,A|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay||n.-48G>A|||||4030|,A|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000475341|processed_transcript||n.-1G>A|||||4046|,A|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000461730|processed_transcript||n.-1G>A|||||4051|,A|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay||n.-27G>A|||||4051|,A|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396426|protein_coding|10/10|c.1011+28G>A||||||,A|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000406029|protein_coding|9/9|c.819+28G>A||||||,A|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000328414|protein_coding|8/8|c.*548+28G>A||||||,A|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396417|nonsense_mediated_decay|8/8|n.*464+28G>A|||||| 22 42390786 . A C . . ANN=C|3_prime_UTR_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396425|protein_coding|10/10|c.*26A>C|||||26|,C|3_prime_UTR_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000291236|protein_coding|9/9|c.*26A>C|||||26|,C|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000328823|protein_coding||c.-32A>C|||||4006|,C|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000412113|nonsense_mediated_decay||n.-95A>C|||||3943|,C|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000329620|nonsense_mediated_decay||n.-95A>C|||||3943|,C|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay||n.-48A>C|||||3990|,C|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000475341|processed_transcript||n.-1A>C|||||4006|,C|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000461730|processed_transcript||n.-1A>C|||||4011|,C|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay||n.-27A>C|||||4011|,C|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396426|protein_coding|10/10|c.1011+68A>C||||||,C|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000406029|protein_coding|9/9|c.819+68A>C||||||,C|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000328414|protein_coding|8/8|c.*548+68A>C||||||,C|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396417|nonsense_mediated_decay|8/8|n.*464+68A>C|||||| 22 42392945 . G A . . ANN=A|missense_variant|MODERATE|SEPT3|ENSG00000100167|transcript|ENST00000396426|protein_coding|11/11|c.1051G>A|p.Ala351Thr|1306/2586|1051/1077|351/358||,A|missense_variant|MODERATE|SEPT3|ENSG00000100167|transcript|ENST00000406029|protein_coding|10/10|c.859G>A|p.Ala287Thr|1079/1866|859/885|287/294||,A|3_prime_UTR_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000328414|protein_coding|9/9|c.*588G>A|||||9270|,A|3_prime_UTR_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396425|protein_coding|10/10|c.*2185G>A|||||2185|,A|3_prime_UTR_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396417|nonsense_mediated_decay|9/9|n.*504G>A|||||9270|,A|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000328823|protein_coding||c.-32G>A|||||1847|,A|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000412113|nonsense_mediated_decay||n.-95G>A|||||1784|,A|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000329620|nonsense_mediated_decay||n.-95G>A|||||1784|,A|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay||n.-48G>A|||||1831|,A|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000475341|processed_transcript||n.-1G>A|||||1847|,A|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000461730|processed_transcript||n.-1G>A|||||1852|,A|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay||n.-27G>A|||||1852|,A|downstream_gene_variant|MODIFIER|SLC25A5P1|ENSG00000215347|transcript|ENST00000450250|processed_pseudogene||n.*898C>T|||||4128|,A|downstream_gene_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000291236|protein_coding||c.*936G>A|||||2130|,A|non_coding_exon_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396417|nonsense_mediated_decay|9/9|n.*504G>A|||||| 22 42394785 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000412113|nonsense_mediated_decay|1/9|n.-38C>T|||||38|,T|5_prime_UTR_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000329620|nonsense_mediated_decay|1/8|n.-38C>T|||||38|,T|5_prime_UTR_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay|1/9|n.-38C>T|||||38|,T|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000328823|protein_coding||c.-32C>T|||||7|,T|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000475341|processed_transcript||n.-1C>T|||||7|,T|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000461730|processed_transcript||n.-1C>T|||||12|,T|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay||n.-27C>T|||||12|,T|downstream_gene_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396426|protein_coding||c.*1332C>T|||||560|,T|downstream_gene_variant|MODIFIER|SLC25A5P1|ENSG00000215347|transcript|ENST00000450250|processed_pseudogene||n.*898G>A|||||2288|,T|downstream_gene_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000406029|protein_coding||c.*1105C>T|||||1053|,T|downstream_gene_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000328414|protein_coding||c.*390C>T|||||560|,T|downstream_gene_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396425|protein_coding||c.*1184C>T|||||560|,T|downstream_gene_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000291236|protein_coding||c.*936C>T|||||3970|,T|downstream_gene_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396417|nonsense_mediated_decay||n.*267C>T|||||715|,T|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000412113|nonsense_mediated_decay|1/9|n.-38C>T||||||,T|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000329620|nonsense_mediated_decay|1/8|n.-38C>T||||||,T|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay|1/9|n.-38C>T|||||| 22 42394794 . C G . . ANN=G|5_prime_UTR_premature_start_codon_gain_variant|LOW|WBP2NL|ENSG00000183066|transcript|ENST00000328823|protein_coding|1/6|c.-29C>G||||||,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|WBP2NL|ENSG00000183066|transcript|ENST00000412113|nonsense_mediated_decay|1/9|n.-29C>G||||||,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|WBP2NL|ENSG00000183066|transcript|ENST00000329620|nonsense_mediated_decay|1/8|n.-29C>G||||||,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay|1/9|n.-29C>G||||||,G|5_prime_UTR_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000328823|protein_coding|1/6|c.-29C>G|||||29|,G|5_prime_UTR_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000412113|nonsense_mediated_decay|1/9|n.-29C>G|||||29|,G|5_prime_UTR_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000329620|nonsense_mediated_decay|1/8|n.-29C>G|||||29|,G|5_prime_UTR_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay|1/9|n.-29C>G|||||29|,G|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000461730|processed_transcript||n.-1C>G|||||3|,G|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay||n.-27C>G|||||3|,G|downstream_gene_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396426|protein_coding||c.*1332C>G|||||569|,G|downstream_gene_variant|MODIFIER|SLC25A5P1|ENSG00000215347|transcript|ENST00000450250|processed_pseudogene||n.*898G>C|||||2279|,G|downstream_gene_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000406029|protein_coding||c.*1105C>G|||||1062|,G|downstream_gene_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000328414|protein_coding||c.*390C>G|||||569|,G|downstream_gene_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396425|protein_coding||c.*1184C>G|||||569|,G|downstream_gene_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000291236|protein_coding||c.*936C>G|||||3979|,G|downstream_gene_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396417|nonsense_mediated_decay||n.*267C>G|||||724|,G|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000412113|nonsense_mediated_decay|1/9|n.-29C>G||||||,G|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000329620|nonsense_mediated_decay|1/8|n.-29C>G||||||,G|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay|1/9|n.-29C>G||||||,G|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000475341|processed_transcript|1/4|n.3C>G|||||| 22 42394835 . C G . . ANN=G|missense_variant|MODERATE|WBP2NL|ENSG00000183066|transcript|ENST00000328823|protein_coding|1/6|c.13C>G|p.Gln5Glu|44/2255|13/930|5/309||,G|downstream_gene_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396426|protein_coding||c.*1332C>G|||||610|,G|downstream_gene_variant|MODIFIER|SLC25A5P1|ENSG00000215347|transcript|ENST00000450250|processed_pseudogene||n.*898G>C|||||2238|,G|downstream_gene_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000406029|protein_coding||c.*1105C>G|||||1103|,G|downstream_gene_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000328414|protein_coding||c.*390C>G|||||610|,G|downstream_gene_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396425|protein_coding||c.*1184C>G|||||610|,G|downstream_gene_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000291236|protein_coding||c.*936C>G|||||4020|,G|downstream_gene_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396417|nonsense_mediated_decay||n.*267C>G|||||765|,G|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000412113|nonsense_mediated_decay|1/9|n.13C>G||||||,G|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000329620|nonsense_mediated_decay|1/8|n.13C>G||||||,G|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay|1/9|n.13C>G||||||,G|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000475341|processed_transcript|1/4|n.44C>G||||||,G|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000461730|processed_transcript|1/4|n.39C>G||||||,G|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay|1/6|n.13C>G|||||| 22 42415292 . C G . . ANN=G|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000543212|protein_coding||c.-1C>G|||||425|,G|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000328823|protein_coding|1/5|c.63-23C>G||||||,G|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000412113|nonsense_mediated_decay|1/8|n.63-23C>G||||||,G|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000329620|nonsense_mediated_decay|1/7|n.63-23C>G||||||,G|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay|1/8|n.63-23C>G||||||,G|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000475341|processed_transcript|1/3|n.94-716C>G||||||,G|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay|1/5|n.63-23C>G|||||| 22 42415326 . G A . . ANN=A|missense_variant|MODERATE|WBP2NL|ENSG00000183066|transcript|ENST00000328823|protein_coding|2/6|c.74G>A|p.Arg25Gln|105/2255|74/930|25/309||,A|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000543212|protein_coding||c.-1G>A|||||391|,A|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000475341|processed_transcript|1/3|n.94-682G>A||||||,A|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000412113|nonsense_mediated_decay|2/9|n.74G>A||||||,A|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000329620|nonsense_mediated_decay|2/8|n.74G>A||||||,A|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay|2/9|n.74G>A||||||,A|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay|2/6|n.74G>A|||||| 22 42415359 . G A . . ANN=A|missense_variant|MODERATE|WBP2NL|ENSG00000183066|transcript|ENST00000328823|protein_coding|2/6|c.107G>A|p.Arg36Gln|138/2255|107/930|36/309||,A|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000543212|protein_coding||c.-1G>A|||||358|,A|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000475341|processed_transcript|1/3|n.94-649G>A||||||,A|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000412113|nonsense_mediated_decay|2/9|n.107G>A||||||,A|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000329620|nonsense_mediated_decay|2/8|n.107G>A||||||,A|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay|2/9|n.107G>A||||||,A|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay|2/6|n.107G>A|||||| 22 42415381 . T C . . ANN=C|synonymous_variant|LOW|WBP2NL|ENSG00000183066|transcript|ENST00000328823|protein_coding|2/6|c.129T>C|p.Phe43Phe|160/2255|129/930|43/309||,C|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000543212|protein_coding||c.-1T>C|||||336|,C|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000475341|processed_transcript|1/3|n.94-627T>C||||||,C|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000412113|nonsense_mediated_decay|2/9|n.129T>C||||||,C|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000329620|nonsense_mediated_decay|2/8|n.129T>C||||||,C|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay|2/9|n.129T>C||||||,C|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay|2/6|n.129T>C|||||| 22 42415433 . A G . . ANN=G|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000543212|protein_coding||c.-1A>G|||||284|,G|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000328823|protein_coding|2/5|c.171+10A>G||||||,G|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000412113|nonsense_mediated_decay|2/8|n.171+10A>G||||||,G|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000329620|nonsense_mediated_decay|2/7|n.171+10A>G||||||,G|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay|2/8|n.171+10A>G||||||,G|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000475341|processed_transcript|1/3|n.94-575A>G||||||,G|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay|2/5|n.171+10A>G|||||| 22 42415437 . C G . . ANN=G|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000543212|protein_coding||c.-1C>G|||||280|,G|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000328823|protein_coding|2/5|c.171+14C>G||||||,G|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000412113|nonsense_mediated_decay|2/8|n.171+14C>G||||||,G|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000329620|nonsense_mediated_decay|2/7|n.171+14C>G||||||,G|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay|2/8|n.171+14C>G||||||,G|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000475341|processed_transcript|1/3|n.94-571C>G||||||,G|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay|2/5|n.171+14C>G|||||| 22 42415457 . ACT A . . ANN=|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000543212|protein_coding||c.-1_-1delCT|||||259|,|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000328823|protein_coding|2/5|c.171+37_171+38delCT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000412113|nonsense_mediated_decay|2/8|n.171+37_171+38delCT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000329620|nonsense_mediated_decay|2/7|n.171+37_171+38delCT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay|2/8|n.171+37_171+38delCT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000475341|processed_transcript|1/3|n.94-548_94-547delCT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay|2/5|n.171+37_171+38delCT||||||INFO_REALIGN_3_PRIME 22 42415744 . A G . . ANN=G|missense_variant|MODERATE|WBP2NL|ENSG00000183066|transcript|ENST00000328823|protein_coding|3/6|c.250A>G|p.Thr84Ala|281/2255|250/930|84/309||,G|missense_variant|MODERATE|WBP2NL|ENSG00000183066|transcript|ENST00000543212|protein_coding|1/7|c.28A>G|p.Thr10Ala|28/1001|28/708|10/235||,G|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000475341|processed_transcript|1/3|n.94-264A>G||||||,G|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay|2/5|n.172-16A>G||||||,G|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000412113|nonsense_mediated_decay|3/9|n.250A>G||||||,G|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000329620|nonsense_mediated_decay|3/8|n.250A>G||||||,G|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay|3/9|n.250A>G|||||| 22 42415831 . T C . . ANN=C|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000328823|protein_coding|3/5|c.313+24T>C||||||,C|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000412113|nonsense_mediated_decay|3/8|n.313+24T>C||||||,C|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000329620|nonsense_mediated_decay|3/7|n.313+24T>C||||||,C|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay|3/8|n.313+24T>C||||||,C|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000475341|processed_transcript|1/3|n.94-177T>C||||||,C|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay|3/5|n.219+24T>C||||||,C|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000543212|protein_coding|1/6|c.91+24T>C|||||| 22 42415841 . TC T . . ANN=|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000328823|protein_coding|3/5|c.313+37delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000412113|nonsense_mediated_decay|3/8|n.313+37delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000329620|nonsense_mediated_decay|3/7|n.313+37delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay|3/8|n.313+37delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000475341|processed_transcript|1/3|n.94-164delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay|3/5|n.219+37delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000543212|protein_coding|1/6|c.91+37delC||||||INFO_REALIGN_3_PRIME 22 42416056 . A G . . ANN=G|missense_variant|MODERATE|WBP2NL|ENSG00000183066|transcript|ENST00000328823|protein_coding|4/6|c.362A>G|p.Asp121Gly|393/2255|362/930|121/309||,G|missense_variant|MODERATE|WBP2NL|ENSG00000183066|transcript|ENST00000543212|protein_coding|2/7|c.140A>G|p.Asp47Gly|140/1001|140/708|47/235||,G|3_prime_UTR_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay|4/6|n.*16A>G|||||16|,G|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000412113|nonsense_mediated_decay|4/9|n.362A>G||||||,G|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000329620|nonsense_mediated_decay|4/8|n.362A>G||||||,G|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay|4/9|n.362A>G||||||,G|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000475341|processed_transcript|2/4|n.142A>G||||||,G|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay|4/6|n.*16A>G|||||| 22 42416137 . G T . . ANN=T|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000328823|protein_coding|4/5|c.406+37G>T||||||,T|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000412113|nonsense_mediated_decay|4/8|n.406+37G>T||||||,T|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000329620|nonsense_mediated_decay|4/7|n.406+37G>T||||||,T|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay|4/8|n.406+37G>T||||||,T|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000475341|processed_transcript|2/3|n.186+37G>T||||||,T|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay|4/5|n.*60+37G>T||||||,T|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000543212|protein_coding|2/6|c.184+37G>T|||||| 22 42418204 . A G . . ANN=G|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000487176|processed_transcript||n.-1A>G|||||4963|,G|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000328823|protein_coding|4/5|c.407-49A>G||||||,G|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000412113|nonsense_mediated_decay|4/8|n.406+2104A>G||||||,G|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000329620|nonsense_mediated_decay|4/7|n.407-49A>G||||||,G|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay|4/8|n.407-49A>G||||||,G|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000475341|processed_transcript|2/3|n.187-49A>G||||||,G|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay|4/5|n.*61-49A>G||||||,G|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000543212|protein_coding|2/6|c.185-49A>G|||||| 22 42418249 . C G . . ANN=G|splice_region_variant&intron_variant|LOW|WBP2NL|ENSG00000183066|transcript|ENST00000328823|protein_coding|4/5|c.407-4C>G||||||,G|splice_region_variant&intron_variant|LOW|WBP2NL|ENSG00000183066|transcript|ENST00000329620|nonsense_mediated_decay|4/7|n.407-4C>G||||||,G|splice_region_variant&intron_variant|LOW|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay|4/8|n.407-4C>G||||||,G|splice_region_variant&intron_variant|LOW|WBP2NL|ENSG00000183066|transcript|ENST00000475341|processed_transcript|2/3|n.187-4C>G||||||,G|splice_region_variant&intron_variant|LOW|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay|4/5|n.*61-4C>G||||||,G|splice_region_variant&intron_variant|LOW|WBP2NL|ENSG00000183066|transcript|ENST00000543212|protein_coding|2/6|c.185-4C>G||||||,G|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000487176|processed_transcript||n.-1C>G|||||4918|,G|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000412113|nonsense_mediated_decay|4/8|n.406+2149C>G|||||| 22 42418265 . T G . . ANN=G|missense_variant|MODERATE|WBP2NL|ENSG00000183066|transcript|ENST00000328823|protein_coding|5/6|c.419T>G|p.Phe140Cys|450/2255|419/930|140/309||,G|missense_variant|MODERATE|WBP2NL|ENSG00000183066|transcript|ENST00000543212|protein_coding|3/7|c.197T>G|p.Phe66Cys|197/1001|197/708|66/235||,G|3_prime_UTR_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay|5/6|n.*73T>G|||||2225|,G|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000487176|processed_transcript||n.-1T>G|||||4902|,G|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000412113|nonsense_mediated_decay|4/8|n.406+2165T>G||||||,G|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000329620|nonsense_mediated_decay|5/8|n.419T>G||||||,G|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay|5/9|n.419T>G||||||,G|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000475341|processed_transcript|3/4|n.199T>G||||||,G|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay|5/6|n.*73T>G|||||| 22 42418294 . A C . . ANN=C|missense_variant|MODERATE|WBP2NL|ENSG00000183066|transcript|ENST00000328823|protein_coding|5/6|c.448A>C|p.Ser150Arg|479/2255|448/930|150/309||,C|missense_variant|MODERATE|WBP2NL|ENSG00000183066|transcript|ENST00000543212|protein_coding|3/7|c.226A>C|p.Ser76Arg|226/1001|226/708|76/235||,C|3_prime_UTR_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay|5/6|n.*102A>C|||||2254|,C|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000487176|processed_transcript||n.-1A>C|||||4873|,C|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000412113|nonsense_mediated_decay|4/8|n.406+2194A>C||||||,C|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000329620|nonsense_mediated_decay|5/8|n.448A>C||||||,C|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay|5/9|n.448A>C||||||,C|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000475341|processed_transcript|3/4|n.228A>C||||||,C|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay|5/6|n.*102A>C|||||| 22 42418333 . A C . . ANN=C|missense_variant|MODERATE|WBP2NL|ENSG00000183066|transcript|ENST00000328823|protein_coding|5/6|c.487A>C|p.Met163Leu|518/2255|487/930|163/309||,C|missense_variant|MODERATE|WBP2NL|ENSG00000183066|transcript|ENST00000543212|protein_coding|3/7|c.265A>C|p.Met89Leu|265/1001|265/708|89/235||,C|3_prime_UTR_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay|5/6|n.*141A>C|||||2293|,C|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000487176|processed_transcript||n.-1A>C|||||4834|,C|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000412113|nonsense_mediated_decay|4/8|n.406+2233A>C||||||,C|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000329620|nonsense_mediated_decay|5/8|n.487A>C||||||,C|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay|5/9|n.487A>C||||||,C|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000475341|processed_transcript|3/4|n.267A>C||||||,C|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay|5/6|n.*141A>C|||||| 22 42418340 . C G . . ANN=G|missense_variant|MODERATE|WBP2NL|ENSG00000183066|transcript|ENST00000328823|protein_coding|5/6|c.494C>G|p.Thr165Ser|525/2255|494/930|165/309||,G|missense_variant|MODERATE|WBP2NL|ENSG00000183066|transcript|ENST00000543212|protein_coding|3/7|c.272C>G|p.Thr91Ser|272/1001|272/708|91/235||,G|3_prime_UTR_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay|5/6|n.*148C>G|||||2300|,G|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000487176|processed_transcript||n.-1C>G|||||4827|,G|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000412113|nonsense_mediated_decay|4/8|n.406+2240C>G||||||,G|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000329620|nonsense_mediated_decay|5/8|n.494C>G||||||,G|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay|5/9|n.494C>G||||||,G|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000475341|processed_transcript|3/4|n.274C>G||||||,G|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay|5/6|n.*148C>G|||||| 22 42418355 . G T . . ANN=T|missense_variant|MODERATE|WBP2NL|ENSG00000183066|transcript|ENST00000328823|protein_coding|5/6|c.509G>T|p.Cys170Phe|540/2255|509/930|170/309||,T|missense_variant|MODERATE|WBP2NL|ENSG00000183066|transcript|ENST00000543212|protein_coding|3/7|c.287G>T|p.Cys96Phe|287/1001|287/708|96/235||,T|3_prime_UTR_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay|5/6|n.*163G>T|||||2315|,T|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000487176|processed_transcript||n.-1G>T|||||4812|,T|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000412113|nonsense_mediated_decay|4/8|n.406+2255G>T||||||,T|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000329620|nonsense_mediated_decay|5/8|n.509G>T||||||,T|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay|5/9|n.509G>T||||||,T|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000475341|processed_transcript|3/4|n.289G>T||||||,T|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay|5/6|n.*163G>T|||||| 22 42422777 . CTATGGAGCCCCACCTGCAGGA C . . ANN=|inframe_deletion|MODERATE|WBP2NL|ENSG00000183066|transcript|ENST00000328823|protein_coding|6/6|c.538_558delGCAGGATATGGAGCCCCACCT|p.Ala180_Pro186del|569/2255|538/930|180/309||INFO_REALIGN_3_PRIME,|inframe_deletion|MODERATE|WBP2NL|ENSG00000183066|transcript|ENST00000543212|protein_coding|4/7|c.316_336delGCAGGATATGGAGCCCCACCT|p.Ala106_Pro112del|316/1001|316/708|106/235||INFO_REALIGN_3_PRIME,|splice_region_variant&non_coding_exon_variant|LOW|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay|6/6|n.*192_*278delGCAGGATATGGAGCCCCACCT||||||INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay|6/6|n.*192_*278delGCAGGATATGGAGCCCCACCT|||||6753|INFO_REALIGN_3_PRIME,|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000487176|processed_transcript||n.-1_-1delTATGGAGCCCCACCTGCAGGA|||||389|,|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000470812|retained_intron||n.-1_-1delTATGGAGCCCCACCTGCAGGA|||||3772|,|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000412113|nonsense_mediated_decay|5/9|n.430_450delGCAGGATATGGAGCCCCACCT||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000329620|nonsense_mediated_decay|6/8|n.538_558delGCAGGATATGGAGCCCCACCT||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay|6/9|n.538_558delGCAGGATATGGAGCCCCACCT||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000475341|processed_transcript|4/4|n.318_338delGCAGGATATGGAGCCCCACCT||||||INFO_REALIGN_3_PRIME 22 42422876 . T C . . ANN=C|synonymous_variant|LOW|WBP2NL|ENSG00000183066|transcript|ENST00000328823|protein_coding|6/6|c.621T>C|p.Pro207Pro|652/2255|621/930|207/309||,C|synonymous_variant|LOW|WBP2NL|ENSG00000183066|transcript|ENST00000543212|protein_coding|4/7|c.399T>C|p.Pro133Pro|399/1001|399/708|133/235||,C|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000487176|processed_transcript||n.-1T>C|||||291|,C|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000470812|retained_intron||n.-1T>C|||||3674|,C|downstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay||n.*278T>C|||||78|,C|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000412113|nonsense_mediated_decay|5/9|n.513T>C||||||,C|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000329620|nonsense_mediated_decay|6/8|n.621T>C||||||,C|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay|6/9|n.621T>C||||||,C|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000475341|processed_transcript|4/4|n.401T>C|||||| 22 42422973 . GCCCCACCTCTTGGATATGGAA G . . ANN=|disruptive_inframe_deletion|MODERATE|WBP2NL|ENSG00000183066|transcript|ENST00000328823|protein_coding|6/6|c.729_749delTGGATATGGAACCCCACCTCT|p.Gly244_Leu250del|760/2255|729/930|243/309||INFO_REALIGN_3_PRIME,|disruptive_inframe_deletion|MODERATE|WBP2NL|ENSG00000183066|transcript|ENST00000543212|protein_coding|4/7|c.507_527delTGGATATGGAACCCCACCTCT|p.Gly170_Leu176del|507/1001|507/708|169/235||INFO_REALIGN_3_PRIME,|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000487176|processed_transcript||n.-1_-1delCCCCACCTCTTGGATATGGAA|||||193|,|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000470812|retained_intron||n.-1_-1delCCCCACCTCTTGGATATGGAA|||||3576|,|downstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay||n.*278_*278delCCCCACCTCTTGGATATGGAA|||||176|,|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000412113|nonsense_mediated_decay|5/9|n.621_641delTGGATATGGAACCCCACCTCT||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000329620|nonsense_mediated_decay|6/8|n.729_749delTGGATATGGAACCCCACCTCT||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay|6/9|n.729_749delTGGATATGGAACCCCACCTCT||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000475341|processed_transcript|4/4|n.509_529delTGGATATGGAACCCCACCTCT||||||INFO_REALIGN_3_PRIME 22 42423052 . A G . . ANN=G|missense_variant|MODERATE|WBP2NL|ENSG00000183066|transcript|ENST00000328823|protein_coding|6/6|c.797A>G|p.Asn266Ser|828/2255|797/930|266/309||,G|missense_variant|MODERATE|WBP2NL|ENSG00000183066|transcript|ENST00000543212|protein_coding|4/7|c.575A>G|p.Asn192Ser|575/1001|575/708|192/235||,G|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000487176|processed_transcript||n.-1A>G|||||115|,G|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000470812|retained_intron||n.-1A>G|||||3498|,G|downstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000475341|processed_transcript||n.*569A>G|||||8|,G|downstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay||n.*278A>G|||||254|,G|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000412113|nonsense_mediated_decay|5/9|n.689A>G||||||,G|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000329620|nonsense_mediated_decay|6/8|n.797A>G||||||,G|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay|6/9|n.797A>G|||||| 22 42423069 . G A . . ANN=A|missense_variant|MODERATE|WBP2NL|ENSG00000183066|transcript|ENST00000328823|protein_coding|6/6|c.814G>A|p.Gly272Arg|845/2255|814/930|272/309||,A|missense_variant|MODERATE|WBP2NL|ENSG00000183066|transcript|ENST00000543212|protein_coding|4/7|c.592G>A|p.Gly198Arg|592/1001|592/708|198/235||,A|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000487176|processed_transcript||n.-1G>A|||||98|,A|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000470812|retained_intron||n.-1G>A|||||3481|,A|downstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000475341|processed_transcript||n.*569G>A|||||25|,A|downstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay||n.*278G>A|||||271|,A|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000412113|nonsense_mediated_decay|5/9|n.706G>A||||||,A|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000329620|nonsense_mediated_decay|6/8|n.814G>A||||||,A|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay|6/9|n.814G>A|||||| 22 42423110 . G C . . ANN=C|missense_variant|MODERATE|WBP2NL|ENSG00000183066|transcript|ENST00000328823|protein_coding|6/6|c.855G>C|p.Gln285His|886/2255|855/930|285/309||,C|missense_variant|MODERATE|WBP2NL|ENSG00000183066|transcript|ENST00000543212|protein_coding|4/7|c.633G>C|p.Gln211His|633/1001|633/708|211/235||,C|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000487176|processed_transcript||n.-1G>C|||||57|,C|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000470812|retained_intron||n.-1G>C|||||3440|,C|downstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000475341|processed_transcript||n.*569G>C|||||66|,C|downstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay||n.*278G>C|||||312|,C|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000412113|nonsense_mediated_decay|5/9|n.747G>C||||||,C|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000329620|nonsense_mediated_decay|6/8|n.855G>C||||||,C|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay|6/9|n.855G>C|||||| 22 42456238 . C A . . ANN=A|3_prime_UTR_variant|MODIFIER|NAGA|ENSG00000198951|transcript|ENST00000396398|protein_coding|9/9|c.*45G>T|||||45|,A|3_prime_UTR_variant|MODIFIER|NAGA|ENSG00000198951|transcript|ENST00000403363|protein_coding|10/10|c.*45G>T|||||45|,A|3_prime_UTR_variant|MODIFIER|NAGA|ENSG00000198951|transcript|ENST00000402937|protein_coding|10/10|c.*45G>T|||||45|,A|downstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay||n.*977C>A|||||1778| 22 42456265 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|NAGA|ENSG00000198951|transcript|ENST00000396398|protein_coding|9/9|c.*18C>T|||||18|,A|3_prime_UTR_variant|MODIFIER|NAGA|ENSG00000198951|transcript|ENST00000403363|protein_coding|10/10|c.*18C>T|||||18|,A|3_prime_UTR_variant|MODIFIER|NAGA|ENSG00000198951|transcript|ENST00000402937|protein_coding|10/10|c.*18C>T|||||18|,A|downstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay||n.*977G>A|||||1805| 22 42456271 . T G . . ANN=G|3_prime_UTR_variant|MODIFIER|NAGA|ENSG00000198951|transcript|ENST00000396398|protein_coding|9/9|c.*12A>C|||||12|,G|3_prime_UTR_variant|MODIFIER|NAGA|ENSG00000198951|transcript|ENST00000403363|protein_coding|10/10|c.*12A>C|||||12|,G|3_prime_UTR_variant|MODIFIER|NAGA|ENSG00000198951|transcript|ENST00000402937|protein_coding|10/10|c.*12A>C|||||12|,G|downstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay||n.*977T>G|||||1811| 22 42456373 . A G . . ANN=G|synonymous_variant|LOW|NAGA|ENSG00000198951|transcript|ENST00000396398|protein_coding|9/9|c.1146T>C|p.Asp382Asp|1679/3694|1146/1236|382/411||,G|synonymous_variant|LOW|NAGA|ENSG00000198951|transcript|ENST00000403363|protein_coding|10/10|c.1146T>C|p.Asp382Asp|1283/1856|1146/1236|382/411||,G|synonymous_variant|LOW|NAGA|ENSG00000198951|transcript|ENST00000402937|protein_coding|10/10|c.1146T>C|p.Asp382Asp|1302/1869|1146/1236|382/411||,G|downstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay||n.*977A>G|||||1913| 22 42456461 . G T . . ANN=T|sequence_feature|LOW|NAGA|ENSG00000198951|beta_strand|ENST00000403363|protein_coding|9/10|c.1102-44C>A||||||,T|sequence_feature|LOW|NAGA|ENSG00000198951|beta_strand|ENST00000403363|protein_coding|10/10|c.1102-44C>A||||||,T|downstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay||n.*977G>T|||||2001|,T|intron_variant|MODIFIER|NAGA|ENSG00000198951|transcript|ENST00000396398|protein_coding|8/8|c.1102-44C>A||||||,T|intron_variant|MODIFIER|NAGA|ENSG00000198951|transcript|ENST00000403363|protein_coding|9/9|c.1102-44C>A||||||,T|intron_variant|MODIFIER|NAGA|ENSG00000198951|transcript|ENST00000402937|protein_coding|9/9|c.1102-44C>A|||||| 22 42456944 . C A . . ANN=A|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000396398|protein_coding|8/9|c.1085G>T|p.Gly362Val|1618/3694|1085/1236|362/411||,A|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000403363|protein_coding|9/10|c.1085G>T|p.Gly362Val|1222/1856|1085/1236|362/411||,A|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000402937|protein_coding|9/10|c.1085G>T|p.Gly362Val|1241/1869|1085/1236|362/411||,A|downstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay||n.*977C>A|||||2484| 22 42457043 . C T . . ANN=T|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000396398|protein_coding|8/9|c.986G>A|p.Arg329Gln|1519/3694|986/1236|329/411||,T|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000403363|protein_coding|9/10|c.986G>A|p.Arg329Gln|1123/1856|986/1236|329/411||,T|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000402937|protein_coding|9/10|c.986G>A|p.Arg329Gln|1142/1869|986/1236|329/411||,T|sequence_feature|LOW|NAGA|ENSG00000198951|beta_strand|ENST00000403363|protein_coding|9/10|c.986G>A||||||,T|downstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay||n.*977C>T|||||2583| 22 42458827 . G C . . ANN=C|splice_region_variant&intron_variant|LOW|NAGA|ENSG00000198951|transcript|ENST00000396398|protein_coding|7/8|c.957+4C>G||||||,C|splice_region_variant&intron_variant|LOW|NAGA|ENSG00000198951|transcript|ENST00000403363|protein_coding|8/9|c.957+4C>G||||||,C|splice_region_variant&intron_variant|LOW|NAGA|ENSG00000198951|transcript|ENST00000402937|protein_coding|8/9|c.957+4C>G||||||,C|downstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay||n.*977G>C|||||4367| 22 42458942 . C T . . ANN=T|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000396398|protein_coding|7/9|c.846G>A|p.Met282Ile|1379/3694|846/1236|282/411||,T|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000403363|protein_coding|8/10|c.846G>A|p.Met282Ile|983/1856|846/1236|282/411||,T|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000402937|protein_coding|8/10|c.846G>A|p.Met282Ile|1002/1869|846/1236|282/411||,T|sequence_feature|LOW|NAGA|ENSG00000198951|beta_strand|ENST00000403363|protein_coding|8/10|c.846G>A||||||,T|downstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay||n.*977C>T|||||4482| 22 42458951 . G T . . ANN=T|synonymous_variant|LOW|NAGA|ENSG00000198951|transcript|ENST00000396398|protein_coding|7/9|c.837C>A|p.Pro279Pro|1370/3694|837/1236|279/411||,T|synonymous_variant|LOW|NAGA|ENSG00000198951|transcript|ENST00000403363|protein_coding|8/10|c.837C>A|p.Pro279Pro|974/1856|837/1236|279/411||,T|synonymous_variant|LOW|NAGA|ENSG00000198951|transcript|ENST00000402937|protein_coding|8/10|c.837C>A|p.Pro279Pro|993/1869|837/1236|279/411||,T|downstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay||n.*977G>T|||||4491| 22 42459021 . A G . . ANN=G|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000396398|protein_coding|7/9|c.767T>C|p.Ile256Thr|1300/3694|767/1236|256/411||,G|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000403363|protein_coding|8/10|c.767T>C|p.Ile256Thr|904/1856|767/1236|256/411||,G|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000402937|protein_coding|8/10|c.767T>C|p.Ile256Thr|923/1869|767/1236|256/411||,G|downstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay||n.*977A>G|||||4561| 22 42459035 . G T . . ANN=T|splice_region_variant&intron_variant|LOW|NAGA|ENSG00000198951|transcript|ENST00000396398|protein_coding|6/8|c.760-7C>A||||||,T|splice_region_variant&intron_variant|LOW|NAGA|ENSG00000198951|transcript|ENST00000403363|protein_coding|7/9|c.760-7C>A||||||,T|splice_region_variant&intron_variant|LOW|NAGA|ENSG00000198951|transcript|ENST00000402937|protein_coding|7/9|c.760-7C>A||||||,T|downstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay||n.*977G>T|||||4575| 22 42461804 . C T . . ANN=T|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000396398|protein_coding|6/9|c.697G>A|p.Val233Met|1230/3694|697/1236|233/411||,T|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000403363|protein_coding|7/10|c.697G>A|p.Val233Met|834/1856|697/1236|233/411||,T|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000402937|protein_coding|7/10|c.697G>A|p.Val233Met|853/1869|697/1236|233/411||,T|sequence_feature|LOW|NAGA|ENSG00000198951|helix|ENST00000403363|protein_coding|7/10|c.697G>A|||||| 22 42461883 . C T . . ANN=T|synonymous_variant|LOW|NAGA|ENSG00000198951|transcript|ENST00000396398|protein_coding|6/9|c.618G>A|p.Ala206Ala|1151/3694|618/1236|206/411||,T|synonymous_variant|LOW|NAGA|ENSG00000198951|transcript|ENST00000403363|protein_coding|7/10|c.618G>A|p.Ala206Ala|755/1856|618/1236|206/411||,T|synonymous_variant|LOW|NAGA|ENSG00000198951|transcript|ENST00000402937|protein_coding|7/10|c.618G>A|p.Ala206Ala|774/1869|618/1236|206/411||,T|sequence_feature|LOW|NAGA|ENSG00000198951|disulfide_bond|ENST00000403363|protein_coding|7/10|c.618G>A||||||,T|sequence_feature|LOW|NAGA|ENSG00000198951|disulfide_bond|ENST00000403363|protein_coding|6/10|c.618G>A||||||,T|sequence_feature|LOW|NAGA|ENSG00000198951|helix|ENST00000403363|protein_coding|7/10|c.618G>A|||||| 22 42461918 . G A . . ANN=A|sequence_feature|LOW|NAGA|ENSG00000198951|disulfide_bond|ENST00000403363|protein_coding|7/10|c.598-15C>T||||||,A|sequence_feature|LOW|NAGA|ENSG00000198951|disulfide_bond|ENST00000403363|protein_coding|6/10|c.598-15C>T||||||,A|intron_variant|MODIFIER|NAGA|ENSG00000198951|transcript|ENST00000396398|protein_coding|5/8|c.598-15C>T||||||,A|intron_variant|MODIFIER|NAGA|ENSG00000198951|transcript|ENST00000403363|protein_coding|6/9|c.598-15C>T||||||,A|intron_variant|MODIFIER|NAGA|ENSG00000198951|transcript|ENST00000402937|protein_coding|6/9|c.598-15C>T|||||| 22 42462729 . G A . . ANN=A|synonymous_variant|LOW|NAGA|ENSG00000198951|transcript|ENST00000396398|protein_coding|5/9|c.582C>T|p.Gly194Gly|1115/3694|582/1236|194/411||,A|synonymous_variant|LOW|NAGA|ENSG00000198951|transcript|ENST00000403363|protein_coding|6/10|c.582C>T|p.Gly194Gly|719/1856|582/1236|194/411||,A|synonymous_variant|LOW|NAGA|ENSG00000198951|transcript|ENST00000402937|protein_coding|6/10|c.582C>T|p.Gly194Gly|738/1869|582/1236|194/411||,A|sequence_feature|LOW|NAGA|ENSG00000198951|disulfide_bond|ENST00000403363|protein_coding|7/10|c.582C>T||||||,A|sequence_feature|LOW|NAGA|ENSG00000198951|disulfide_bond|ENST00000403363|protein_coding|6/10|c.582C>T|||||| 22 42463071 . C T . . ANN=T|sequence_feature|LOW|NAGA|ENSG00000198951|helix|ENST00000403363|protein_coding|5/10|c.502+46G>A||||||,T|sequence_feature|LOW|NAGA|ENSG00000198951|helix|ENST00000403363|protein_coding|6/10|c.502+46G>A||||||,T|intron_variant|MODIFIER|NAGA|ENSG00000198951|transcript|ENST00000396398|protein_coding|4/8|c.502+46G>A||||||,T|intron_variant|MODIFIER|NAGA|ENSG00000198951|transcript|ENST00000403363|protein_coding|5/9|c.502+46G>A||||||,T|intron_variant|MODIFIER|NAGA|ENSG00000198951|transcript|ENST00000402937|protein_coding|5/9|c.502+46G>A|||||| 22 42463091 . G A . . ANN=A|sequence_feature|LOW|NAGA|ENSG00000198951|helix|ENST00000403363|protein_coding|5/10|c.502+26C>T||||||,A|sequence_feature|LOW|NAGA|ENSG00000198951|helix|ENST00000403363|protein_coding|6/10|c.502+26C>T||||||,A|intron_variant|MODIFIER|NAGA|ENSG00000198951|transcript|ENST00000396398|protein_coding|4/8|c.502+26C>T||||||,A|intron_variant|MODIFIER|NAGA|ENSG00000198951|transcript|ENST00000403363|protein_coding|5/9|c.502+26C>T||||||,A|intron_variant|MODIFIER|NAGA|ENSG00000198951|transcript|ENST00000402937|protein_coding|5/9|c.502+26C>T|||||| 22 42463114 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|NAGA|ENSG00000198951|transcript|ENST00000396398|protein_coding|4/8|c.502+3G>A||||||,T|splice_region_variant&intron_variant|LOW|NAGA|ENSG00000198951|transcript|ENST00000403363|protein_coding|5/9|c.502+3G>A||||||,T|splice_region_variant&intron_variant|LOW|NAGA|ENSG00000198951|transcript|ENST00000402937|protein_coding|5/9|c.502+3G>A||||||,T|sequence_feature|LOW|NAGA|ENSG00000198951|helix|ENST00000403363|protein_coding|5/10|c.502+3G>A||||||,T|sequence_feature|LOW|NAGA|ENSG00000198951|helix|ENST00000403363|protein_coding|6/10|c.502+3G>A|||||| 22 42463140 . G C . . ANN=C|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000396398|protein_coding|4/9|c.479C>G|p.Ser160Cys|1012/3694|479/1236|160/411||,C|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000403363|protein_coding|5/10|c.479C>G|p.Ser160Cys|616/1856|479/1236|160/411||,C|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000402937|protein_coding|5/10|c.479C>G|p.Ser160Cys|635/1869|479/1236|160/411|| 22 42463165 . T C . . ANN=C|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000396398|protein_coding|4/9|c.454A>G|p.Met152Val|987/3694|454/1236|152/411||,C|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000403363|protein_coding|5/10|c.454A>G|p.Met152Val|591/1856|454/1236|152/411||,C|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000402937|protein_coding|5/10|c.454A>G|p.Met152Val|610/1869|454/1236|152/411||,C|sequence_feature|LOW|NAGA|ENSG00000198951|disulfide_bond|ENST00000403363|protein_coding|5/10|c.454A>G||||||,C|sequence_feature|LOW|NAGA|ENSG00000198951|beta_strand|ENST00000403363|protein_coding|5/10|c.454A>G|||||| 22 42463213 . C T . . ANN=T|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000396398|protein_coding|4/9|c.406G>A|p.Asp136Asn|939/3694|406/1236|136/411||,T|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000403363|protein_coding|5/10|c.406G>A|p.Asp136Asn|543/1856|406/1236|136/411||,T|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000402937|protein_coding|5/10|c.406G>A|p.Asp136Asn|562/1869|406/1236|136/411||,T|sequence_feature|LOW|NAGA|ENSG00000198951|disulfide_bond|ENST00000403363|protein_coding|5/10|c.406G>A||||||,T|sequence_feature|LOW|NAGA|ENSG00000198951|helix|ENST00000403363|protein_coding|5/10|c.406G>A|||||| 22 42463244 . G A . . ANN=A|synonymous_variant|LOW|NAGA|ENSG00000198951|transcript|ENST00000396398|protein_coding|4/9|c.375C>T|p.Phe125Phe|908/3694|375/1236|125/411||,A|synonymous_variant|LOW|NAGA|ENSG00000198951|transcript|ENST00000403363|protein_coding|5/10|c.375C>T|p.Phe125Phe|512/1856|375/1236|125/411||,A|synonymous_variant|LOW|NAGA|ENSG00000198951|transcript|ENST00000402937|protein_coding|5/10|c.375C>T|p.Phe125Phe|531/1869|375/1236|125/411||,A|sequence_feature|LOW|NAGA|ENSG00000198951|beta_strand|ENST00000403363|protein_coding|5/10|c.375C>T|||||| 22 42463267 . T C . . ANN=C|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000396398|protein_coding|4/9|c.352A>G|p.Ile118Val|885/3694|352/1236|118/411||,C|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000403363|protein_coding|5/10|c.352A>G|p.Ile118Val|489/1856|352/1236|118/411||,C|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000402937|protein_coding|5/10|c.352A>G|p.Ile118Val|508/1869|352/1236|118/411||,C|sequence_feature|LOW|NAGA|ENSG00000198951|beta_strand|ENST00000403363|protein_coding|5/10|c.352A>G|||||| 22 42463302 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|NAGA|ENSG00000198951|transcript|ENST00000396398|protein_coding|3/8|c.325-8C>T||||||,A|splice_region_variant&intron_variant|LOW|NAGA|ENSG00000198951|transcript|ENST00000403363|protein_coding|4/9|c.325-8C>T||||||,A|splice_region_variant&intron_variant|LOW|NAGA|ENSG00000198951|transcript|ENST00000402937|protein_coding|4/9|c.325-8C>T||||||,A|sequence_feature|LOW|NAGA|ENSG00000198951|helix|ENST00000403363|protein_coding|5/10|c.325-8C>T||||||,A|sequence_feature|LOW|NAGA|ENSG00000198951|helix|ENST00000403363|protein_coding|4/10|c.325-8C>T|||||| 22 42463342 . G A . . ANN=A|sequence_feature|LOW|NAGA|ENSG00000198951|helix|ENST00000403363|protein_coding|5/10|c.325-48C>T||||||,A|sequence_feature|LOW|NAGA|ENSG00000198951|helix|ENST00000403363|protein_coding|4/10|c.325-48C>T||||||,A|intron_variant|MODIFIER|NAGA|ENSG00000198951|transcript|ENST00000396398|protein_coding|3/8|c.325-48C>T||||||,A|intron_variant|MODIFIER|NAGA|ENSG00000198951|transcript|ENST00000403363|protein_coding|4/9|c.325-48C>T||||||,A|intron_variant|MODIFIER|NAGA|ENSG00000198951|transcript|ENST00000402937|protein_coding|4/9|c.325-48C>T|||||| 22 42463736 . T C . . ANN=C|sequence_feature|LOW|NAGA|ENSG00000198951|helix|ENST00000403363|protein_coding|5/10|c.324+33A>G||||||,C|sequence_feature|LOW|NAGA|ENSG00000198951|helix|ENST00000403363|protein_coding|4/10|c.324+33A>G||||||,C|intron_variant|MODIFIER|NAGA|ENSG00000198951|transcript|ENST00000396398|protein_coding|3/8|c.324+33A>G||||||,C|intron_variant|MODIFIER|NAGA|ENSG00000198951|transcript|ENST00000403363|protein_coding|4/9|c.324+33A>G||||||,C|intron_variant|MODIFIER|NAGA|ENSG00000198951|transcript|ENST00000402937|protein_coding|4/9|c.324+33A>G|||||| 22 42463768 . C T . . ANN=T|splice_donor_variant&intron_variant|HIGH|NAGA|ENSG00000198951|transcript|ENST00000396398|protein_coding|3/8|c.324+1G>A||||||,T|splice_donor_variant&intron_variant|HIGH|NAGA|ENSG00000198951|transcript|ENST00000403363|protein_coding|4/9|c.324+1G>A||||||,T|splice_donor_variant&intron_variant|HIGH|NAGA|ENSG00000198951|transcript|ENST00000402937|protein_coding|4/9|c.324+1G>A||||||,T|sequence_feature|LOW|NAGA|ENSG00000198951|helix|ENST00000403363|protein_coding|5/10|c.324+1G>A||||||,T|sequence_feature|LOW|NAGA|ENSG00000198951|helix|ENST00000403363|protein_coding|4/10|c.324+1G>A||||||;LOF=(NAGA|ENSG00000198951|3|1.00) 22 42463769 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|NAGA|ENSG00000198951|transcript|ENST00000396398|protein_coding|3/9|c.324C>T|p.Tyr108Tyr|857/3694|324/1236|108/411||,A|splice_region_variant&synonymous_variant|LOW|NAGA|ENSG00000198951|transcript|ENST00000403363|protein_coding|4/10|c.324C>T|p.Tyr108Tyr|461/1856|324/1236|108/411||,A|splice_region_variant&synonymous_variant|LOW|NAGA|ENSG00000198951|transcript|ENST00000402937|protein_coding|4/10|c.324C>T|p.Tyr108Tyr|480/1869|324/1236|108/411||,A|sequence_feature|LOW|NAGA|ENSG00000198951|helix|ENST00000403363|protein_coding|5/10|c.324C>T||||||,A|sequence_feature|LOW|NAGA|ENSG00000198951|helix|ENST00000403363|protein_coding|4/10|c.324C>T|||||| 22 42463813 . C T . . ANN=T|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000396398|protein_coding|3/9|c.280G>A|p.Asp94Asn|813/3694|280/1236|94/411||,T|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000403363|protein_coding|4/10|c.280G>A|p.Asp94Asn|417/1856|280/1236|94/411||,T|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000402937|protein_coding|4/10|c.280G>A|p.Asp94Asn|436/1869|280/1236|94/411|| 22 42463814 . C T . . ANN=T|synonymous_variant|LOW|NAGA|ENSG00000198951|transcript|ENST00000396398|protein_coding|3/9|c.279G>A|p.Pro93Pro|812/3694|279/1236|93/411||,T|synonymous_variant|LOW|NAGA|ENSG00000198951|transcript|ENST00000403363|protein_coding|4/10|c.279G>A|p.Pro93Pro|416/1856|279/1236|93/411||,T|synonymous_variant|LOW|NAGA|ENSG00000198951|transcript|ENST00000402937|protein_coding|4/10|c.279G>A|p.Pro93Pro|435/1869|279/1236|93/411||,T|sequence_feature|LOW|NAGA|ENSG00000198951|beta_strand|ENST00000403363|protein_coding|4/10|c.279G>A|||||| 22 42463897 . C T . . ANN=T|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000396398|protein_coding|3/9|c.196G>A|p.Gly66Arg|729/3694|196/1236|66/411||,T|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000403363|protein_coding|4/10|c.196G>A|p.Gly66Arg|333/1856|196/1236|66/411||,T|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000402937|protein_coding|4/10|c.196G>A|p.Gly66Arg|352/1869|196/1236|66/411||,T|sequence_feature|LOW|NAGA|ENSG00000198951|disulfide_bond|ENST00000403363|protein_coding|3/10|c.196G>A||||||,T|sequence_feature|LOW|NAGA|ENSG00000198951|disulfide_bond|ENST00000403363|protein_coding|4/10|c.196G>A|||||| 22 42463976 . C T . . ANN=T|sequence_feature|LOW|NAGA|ENSG00000198951|disulfide_bond|ENST00000403363|protein_coding|3/10|c.153-36G>A||||||,T|sequence_feature|LOW|NAGA|ENSG00000198951|disulfide_bond|ENST00000403363|protein_coding|4/10|c.153-36G>A||||||,T|sequence_feature|LOW|NAGA|ENSG00000198951|beta_strand|ENST00000403363|protein_coding|3/10|c.153-36G>A||||||,T|sequence_feature|LOW|NAGA|ENSG00000198951|beta_strand|ENST00000403363|protein_coding|4/10|c.153-36G>A||||||,T|intron_variant|MODIFIER|NAGA|ENSG00000198951|transcript|ENST00000396398|protein_coding|2/8|c.153-36G>A||||||,T|intron_variant|MODIFIER|NAGA|ENSG00000198951|transcript|ENST00000403363|protein_coding|3/9|c.153-36G>A||||||,T|intron_variant|MODIFIER|NAGA|ENSG00000198951|transcript|ENST00000402937|protein_coding|3/9|c.153-36G>A|||||| 22 42464570 . G A . . ANN=A|synonymous_variant|LOW|NAGA|ENSG00000198951|transcript|ENST00000396398|protein_coding|2/9|c.25C>T|p.Leu9Leu|558/3694|25/1236|9/411||,A|synonymous_variant|LOW|NAGA|ENSG00000198951|transcript|ENST00000403363|protein_coding|3/10|c.25C>T|p.Leu9Leu|162/1856|25/1236|9/411||,A|synonymous_variant|LOW|NAGA|ENSG00000198951|transcript|ENST00000402937|protein_coding|3/10|c.25C>T|p.Leu9Leu|181/1869|25/1236|9/411||,A|sequence_feature|LOW|NAGA|ENSG00000198951|signal_peptide|ENST00000403363|protein_coding|3/10|c.25C>T||||||,A|sequence_feature|LOW|NAGA|ENSG00000198951|signal_peptide|ENST00000403363|protein_coding|2/10|c.25C>T|||||| 22 42464614 . G A . . ANN=A|sequence_feature|LOW|NAGA|ENSG00000198951|signal_peptide|ENST00000403363|protein_coding|3/10|c.17-36C>T||||||,A|sequence_feature|LOW|NAGA|ENSG00000198951|signal_peptide|ENST00000403363|protein_coding|2/10|c.17-36C>T||||||,A|intron_variant|MODIFIER|NAGA|ENSG00000198951|transcript|ENST00000396398|protein_coding|1/8|c.17-36C>T||||||,A|intron_variant|MODIFIER|NAGA|ENSG00000198951|transcript|ENST00000403363|protein_coding|2/9|c.17-36C>T||||||,A|intron_variant|MODIFIER|NAGA|ENSG00000198951|transcript|ENST00000402937|protein_coding|2/9|c.17-36C>T|||||| 22 42464617 . G T . . ANN=T|sequence_feature|LOW|NAGA|ENSG00000198951|signal_peptide|ENST00000403363|protein_coding|3/10|c.17-39C>A||||||,T|sequence_feature|LOW|NAGA|ENSG00000198951|signal_peptide|ENST00000403363|protein_coding|2/10|c.17-39C>A||||||,T|intron_variant|MODIFIER|NAGA|ENSG00000198951|transcript|ENST00000396398|protein_coding|1/8|c.17-39C>A||||||,T|intron_variant|MODIFIER|NAGA|ENSG00000198951|transcript|ENST00000403363|protein_coding|2/9|c.17-39C>A||||||,T|intron_variant|MODIFIER|NAGA|ENSG00000198951|transcript|ENST00000402937|protein_coding|2/9|c.17-39C>A|||||| 22 42464618 . C T . . ANN=T|sequence_feature|LOW|NAGA|ENSG00000198951|signal_peptide|ENST00000403363|protein_coding|3/10|c.17-40G>A||||||,T|sequence_feature|LOW|NAGA|ENSG00000198951|signal_peptide|ENST00000403363|protein_coding|2/10|c.17-40G>A||||||,T|intron_variant|MODIFIER|NAGA|ENSG00000198951|transcript|ENST00000396398|protein_coding|1/8|c.17-40G>A||||||,T|intron_variant|MODIFIER|NAGA|ENSG00000198951|transcript|ENST00000403363|protein_coding|2/9|c.17-40G>A||||||,T|intron_variant|MODIFIER|NAGA|ENSG00000198951|transcript|ENST00000402937|protein_coding|2/9|c.17-40G>A|||||| 22 42473288 . C T . . ANN=T|5_prime_UTR_premature_start_codon_gain_variant|LOW|FAM109B|ENSG00000177096|transcript|ENST00000321753|protein_coding|3/3|c.-10C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|FAM109B|ENSG00000177096|transcript|ENST00000419475|protein_coding|3/3|c.-10C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|FAM109B|ENSG00000177096|transcript|ENST00000321753|protein_coding|3/3|c.-10C>T|||||10|,T|5_prime_UTR_variant|MODIFIER|FAM109B|ENSG00000177096|transcript|ENST00000419475|protein_coding|3/3|c.-10C>T|||||10|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|snoU13|ENSG00000238498|transcript|ENST00000458891|snoRNA||n.-1G>A|||||1123|,T|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000331479|protein_coding||c.-75C>T|||||2411|,T|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000422252|nonsense_mediated_decay||n.-79C>T|||||2407|,T|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000484235|retained_intron||n.-1C>T|||||2416| 22 42473376 . TG T . . ANN=|frameshift_variant|HIGH|FAM109B|ENSG00000177096|transcript|ENST00000321753|protein_coding|3/3|c.86delG|p.Gly29fs|273/2335|86/780|29/259||INFO_REALIGN_3_PRIME,|frameshift_variant|HIGH|FAM109B|ENSG00000177096|transcript|ENST00000419475|protein_coding|3/3|c.86delG|p.Gly29fs|298/537|86/325|29/107||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME,|sequence_feature|LOW|FAM109B|ENSG00000177096|domain:PH|ENST00000321753|protein_coding|3/3|c.80delG||||||,|upstream_gene_variant|MODIFIER|snoU13|ENSG00000238498|transcript|ENST00000458891|snoRNA||n.-1delC|||||1212|,|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000331479|protein_coding||c.-75delG|||||2322|,|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000422252|nonsense_mediated_decay||n.-79delG|||||2318|,|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000484235|retained_intron||n.-1delG|||||2327|;LOF=(FAM109B|ENSG00000177096|2|1.00) 22 42473426 . C T . . ANN=T|synonymous_variant|LOW|FAM109B|ENSG00000177096|transcript|ENST00000321753|protein_coding|3/3|c.129C>T|p.Cys43Cys|316/2335|129/780|43/259||,T|synonymous_variant|LOW|FAM109B|ENSG00000177096|transcript|ENST00000419475|protein_coding|3/3|c.129C>T|p.Cys43Cys|341/537|129/325|43/107||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|FAM109B|ENSG00000177096|domain:PH|ENST00000321753|protein_coding|3/3|c.129C>T||||||,T|upstream_gene_variant|MODIFIER|snoU13|ENSG00000238498|transcript|ENST00000458891|snoRNA||n.-1G>A|||||1261|,T|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000331479|protein_coding||c.-75C>T|||||2273|,T|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000422252|nonsense_mediated_decay||n.-79C>T|||||2269|,T|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000484235|retained_intron||n.-1C>T|||||2278| 22 42473509 . G A . . ANN=A|missense_variant|MODERATE|FAM109B|ENSG00000177096|transcript|ENST00000321753|protein_coding|3/3|c.212G>A|p.Gly71Asp|399/2335|212/780|71/259||,A|missense_variant|MODERATE|FAM109B|ENSG00000177096|transcript|ENST00000419475|protein_coding|3/3|c.212G>A|p.Gly71Asp|424/537|212/325|71/107||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|FAM109B|ENSG00000177096|domain:PH|ENST00000321753|protein_coding|3/3|c.212G>A||||||,A|upstream_gene_variant|MODIFIER|snoU13|ENSG00000238498|transcript|ENST00000458891|snoRNA||n.-1C>T|||||1344|,A|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000331479|protein_coding||c.-75G>A|||||2190|,A|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000422252|nonsense_mediated_decay||n.-79G>A|||||2186|,A|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000484235|retained_intron||n.-1G>A|||||2195| 22 42473528 . C T . . ANN=T|synonymous_variant|LOW|FAM109B|ENSG00000177096|transcript|ENST00000321753|protein_coding|3/3|c.231C>T|p.Ala77Ala|418/2335|231/780|77/259||,T|synonymous_variant|LOW|FAM109B|ENSG00000177096|transcript|ENST00000419475|protein_coding|3/3|c.231C>T|p.Ala77Ala|443/537|231/325|77/107||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|FAM109B|ENSG00000177096|domain:PH|ENST00000321753|protein_coding|3/3|c.231C>T||||||,T|upstream_gene_variant|MODIFIER|snoU13|ENSG00000238498|transcript|ENST00000458891|snoRNA||n.-1G>A|||||1363|,T|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000331479|protein_coding||c.-75C>T|||||2171|,T|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000422252|nonsense_mediated_decay||n.-79C>T|||||2167|,T|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000484235|retained_intron||n.-1C>T|||||2176| 22 42473586 . C T . . ANN=T|missense_variant|MODERATE|FAM109B|ENSG00000177096|transcript|ENST00000321753|protein_coding|3/3|c.289C>T|p.Arg97Cys|476/2335|289/780|97/259||,T|missense_variant|MODERATE|FAM109B|ENSG00000177096|transcript|ENST00000419475|protein_coding|3/3|c.289C>T|p.Arg97Cys|501/537|289/325|97/107||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|FAM109B|ENSG00000177096|domain:PH|ENST00000321753|protein_coding|3/3|c.289C>T||||||,T|upstream_gene_variant|MODIFIER|snoU13|ENSG00000238498|transcript|ENST00000458891|snoRNA||n.-1G>A|||||1421|,T|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000331479|protein_coding||c.-75C>T|||||2113|,T|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000422252|nonsense_mediated_decay||n.-79C>T|||||2109|,T|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000484235|retained_intron||n.-1C>T|||||2118| 22 42473603 . C T . . ANN=T|synonymous_variant|LOW|FAM109B|ENSG00000177096|transcript|ENST00000321753|protein_coding|3/3|c.306C>T|p.Ala102Ala|493/2335|306/780|102/259||,T|synonymous_variant|LOW|FAM109B|ENSG00000177096|transcript|ENST00000419475|protein_coding|3/3|c.306C>T|p.Ala102Ala|518/537|306/325|102/107||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|FAM109B|ENSG00000177096|domain:PH|ENST00000321753|protein_coding|3/3|c.306C>T||||||,T|upstream_gene_variant|MODIFIER|snoU13|ENSG00000238498|transcript|ENST00000458891|snoRNA||n.-1G>A|||||1438|,T|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000331479|protein_coding||c.-75C>T|||||2096|,T|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000422252|nonsense_mediated_decay||n.-79C>T|||||2092|,T|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000484235|retained_intron||n.-1C>T|||||2101| 22 42473671 . G A . . ANN=A|missense_variant|MODERATE|FAM109B|ENSG00000177096|transcript|ENST00000321753|protein_coding|3/3|c.374G>A|p.Arg125His|561/2335|374/780|125/259||,A|sequence_feature|LOW|FAM109B|ENSG00000177096|coiled-coil_region|ENST00000321753|protein_coding|3/3|c.374G>A||||||,A|upstream_gene_variant|MODIFIER|snoU13|ENSG00000238498|transcript|ENST00000458891|snoRNA||n.-1C>T|||||1506|,A|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000331479|protein_coding||c.-75G>A|||||2028|,A|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000422252|nonsense_mediated_decay||n.-79G>A|||||2024|,A|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000484235|retained_intron||n.-1G>A|||||2033|,A|downstream_gene_variant|MODIFIER|FAM109B|ENSG00000177096|transcript|ENST00000419475|protein_coding||c.*537G>A|||||49|WARNING_TRANSCRIPT_INCOMPLETE 22 42473683 . G A . . ANN=A|missense_variant|MODERATE|FAM109B|ENSG00000177096|transcript|ENST00000321753|protein_coding|3/3|c.386G>A|p.Arg129His|573/2335|386/780|129/259||,A|sequence_feature|LOW|FAM109B|ENSG00000177096|coiled-coil_region|ENST00000321753|protein_coding|3/3|c.386G>A||||||,A|upstream_gene_variant|MODIFIER|snoU13|ENSG00000238498|transcript|ENST00000458891|snoRNA||n.-1C>T|||||1518|,A|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000331479|protein_coding||c.-75G>A|||||2016|,A|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000422252|nonsense_mediated_decay||n.-79G>A|||||2012|,A|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000484235|retained_intron||n.-1G>A|||||2021|,A|downstream_gene_variant|MODIFIER|FAM109B|ENSG00000177096|transcript|ENST00000419475|protein_coding||c.*537G>A|||||61|WARNING_TRANSCRIPT_INCOMPLETE 22 42473684 . C T . . ANN=T|synonymous_variant|LOW|FAM109B|ENSG00000177096|transcript|ENST00000321753|protein_coding|3/3|c.387C>T|p.Arg129Arg|574/2335|387/780|129/259||,T|sequence_feature|LOW|FAM109B|ENSG00000177096|coiled-coil_region|ENST00000321753|protein_coding|3/3|c.387C>T||||||,T|upstream_gene_variant|MODIFIER|snoU13|ENSG00000238498|transcript|ENST00000458891|snoRNA||n.-1G>A|||||1519|,T|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000331479|protein_coding||c.-75C>T|||||2015|,T|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000422252|nonsense_mediated_decay||n.-79C>T|||||2011|,T|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000484235|retained_intron||n.-1C>T|||||2020|,T|downstream_gene_variant|MODIFIER|FAM109B|ENSG00000177096|transcript|ENST00000419475|protein_coding||c.*537C>T|||||62|WARNING_TRANSCRIPT_INCOMPLETE 22 42473774 . C T . . ANN=T|synonymous_variant|LOW|FAM109B|ENSG00000177096|transcript|ENST00000321753|protein_coding|3/3|c.477C>T|p.Pro159Pro|664/2335|477/780|159/259||,T|upstream_gene_variant|MODIFIER|snoU13|ENSG00000238498|transcript|ENST00000458891|snoRNA||n.-1G>A|||||1609|,T|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000331479|protein_coding||c.-75C>T|||||1925|,T|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000422252|nonsense_mediated_decay||n.-79C>T|||||1921|,T|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000484235|retained_intron||n.-1C>T|||||1930|,T|downstream_gene_variant|MODIFIER|FAM109B|ENSG00000177096|transcript|ENST00000419475|protein_coding||c.*537C>T|||||152|WARNING_TRANSCRIPT_INCOMPLETE 22 42473860 . C G . . ANN=G|missense_variant|MODERATE|FAM109B|ENSG00000177096|transcript|ENST00000321753|protein_coding|3/3|c.563C>G|p.Ala188Gly|750/2335|563/780|188/259||,G|upstream_gene_variant|MODIFIER|snoU13|ENSG00000238498|transcript|ENST00000458891|snoRNA||n.-1G>C|||||1695|,G|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000331479|protein_coding||c.-75C>G|||||1839|,G|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000422252|nonsense_mediated_decay||n.-79C>G|||||1835|,G|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000484235|retained_intron||n.-1C>G|||||1844|,G|downstream_gene_variant|MODIFIER|FAM109B|ENSG00000177096|transcript|ENST00000419475|protein_coding||c.*537C>G|||||238|WARNING_TRANSCRIPT_INCOMPLETE 22 42473883 . G A . . ANN=A|missense_variant|MODERATE|FAM109B|ENSG00000177096|transcript|ENST00000321753|protein_coding|3/3|c.586G>A|p.Gly196Arg|773/2335|586/780|196/259||,A|upstream_gene_variant|MODIFIER|snoU13|ENSG00000238498|transcript|ENST00000458891|snoRNA||n.-1C>T|||||1718|,A|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000331479|protein_coding||c.-75G>A|||||1816|,A|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000422252|nonsense_mediated_decay||n.-79G>A|||||1812|,A|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000484235|retained_intron||n.-1G>A|||||1821|,A|downstream_gene_variant|MODIFIER|FAM109B|ENSG00000177096|transcript|ENST00000419475|protein_coding||c.*537G>A|||||261|WARNING_TRANSCRIPT_INCOMPLETE 22 42473927 . A C . . ANN=C|synonymous_variant|LOW|FAM109B|ENSG00000177096|transcript|ENST00000321753|protein_coding|3/3|c.630A>C|p.Leu210Leu|817/2335|630/780|210/259||,C|upstream_gene_variant|MODIFIER|snoU13|ENSG00000238498|transcript|ENST00000458891|snoRNA||n.-1T>G|||||1762|,C|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000331479|protein_coding||c.-75A>C|||||1772|,C|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000422252|nonsense_mediated_decay||n.-79A>C|||||1768|,C|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000484235|retained_intron||n.-1A>C|||||1777|,C|downstream_gene_variant|MODIFIER|FAM109B|ENSG00000177096|transcript|ENST00000419475|protein_coding||c.*537A>C|||||305|WARNING_TRANSCRIPT_INCOMPLETE 22 42473990 . T C . . ANN=C|synonymous_variant|LOW|FAM109B|ENSG00000177096|transcript|ENST00000321753|protein_coding|3/3|c.693T>C|p.Tyr231Tyr|880/2335|693/780|231/259||,C|sequence_feature|LOW|FAM109B|ENSG00000177096|short_sequence_motif:F&|ENST00000321753|protein_coding|3/3|c.693T>C||||||,C|upstream_gene_variant|MODIFIER|snoU13|ENSG00000238498|transcript|ENST00000458891|snoRNA||n.-1A>G|||||1825|,C|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000331479|protein_coding||c.-75T>C|||||1709|,C|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000422252|nonsense_mediated_decay||n.-79T>C|||||1705|,C|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000484235|retained_intron||n.-1T>C|||||1714|,C|downstream_gene_variant|MODIFIER|FAM109B|ENSG00000177096|transcript|ENST00000419475|protein_coding||c.*537T>C|||||368|WARNING_TRANSCRIPT_INCOMPLETE 22 42474002 . C T . . ANN=T|synonymous_variant|LOW|FAM109B|ENSG00000177096|transcript|ENST00000321753|protein_coding|3/3|c.705C>T|p.Ile235Ile|892/2335|705/780|235/259||,T|sequence_feature|LOW|FAM109B|ENSG00000177096|short_sequence_motif:F&|ENST00000321753|protein_coding|3/3|c.705C>T||||||,T|upstream_gene_variant|MODIFIER|snoU13|ENSG00000238498|transcript|ENST00000458891|snoRNA||n.-1G>A|||||1837|,T|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000331479|protein_coding||c.-75C>T|||||1697|,T|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000422252|nonsense_mediated_decay||n.-79C>T|||||1693|,T|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000484235|retained_intron||n.-1C>T|||||1702|,T|downstream_gene_variant|MODIFIER|FAM109B|ENSG00000177096|transcript|ENST00000419475|protein_coding||c.*537C>T|||||380|WARNING_TRANSCRIPT_INCOMPLETE 22 42474068 . T G . . ANN=G|missense_variant|MODERATE|FAM109B|ENSG00000177096|transcript|ENST00000321753|protein_coding|3/3|c.771T>G|p.Asp257Glu|958/2335|771/780|257/259||,G|upstream_gene_variant|MODIFIER|snoU13|ENSG00000238498|transcript|ENST00000458891|snoRNA||n.-1A>C|||||1903|,G|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000331479|protein_coding||c.-75T>G|||||1631|,G|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000422252|nonsense_mediated_decay||n.-79T>G|||||1627|,G|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000484235|retained_intron||n.-1T>G|||||1636|,G|downstream_gene_variant|MODIFIER|FAM109B|ENSG00000177096|transcript|ENST00000419475|protein_coding||c.*537T>G|||||446|WARNING_TRANSCRIPT_INCOMPLETE 22 42475797 . C T . . ANN=T|synonymous_variant|LOW|SMDT1|ENSG00000183172|transcript|ENST00000331479|protein_coding|1/3|c.25C>T|p.Leu9Leu|99/1567|25/324|9/107||,T|sequence_feature|LOW|SMDT1|ENSG00000183172|transit_peptide:Mitochondrion|ENST00000331479|protein_coding|1/3|c.25C>T||||||,T|upstream_gene_variant|MODIFIER|snoU13|ENSG00000238498|transcript|ENST00000458891|snoRNA||n.-1G>A|||||3632|,T|downstream_gene_variant|MODIFIER|FAM109B|ENSG00000177096|transcript|ENST00000321753|protein_coding||c.*967C>T|||||352|,T|downstream_gene_variant|MODIFIER|FAM109B|ENSG00000177096|transcript|ENST00000419475|protein_coding||c.*537C>T|||||2175|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000422252|nonsense_mediated_decay|1/3|n.25C>T||||||,T|non_coding_exon_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000484235|retained_intron|1/2|n.94C>T|||||| 22 42475860 . G A . . ANN=A|missense_variant|MODERATE|SMDT1|ENSG00000183172|transcript|ENST00000331479|protein_coding|1/3|c.88G>A|p.Asp30Asn|162/1567|88/324|30/107||,A|sequence_feature|LOW|SMDT1|ENSG00000183172|transit_peptide:Mitochondrion|ENST00000331479|protein_coding|1/3|c.88G>A||||||,A|upstream_gene_variant|MODIFIER|snoU13|ENSG00000238498|transcript|ENST00000458891|snoRNA||n.-1C>T|||||3695|,A|downstream_gene_variant|MODIFIER|FAM109B|ENSG00000177096|transcript|ENST00000321753|protein_coding||c.*967G>A|||||415|,A|downstream_gene_variant|MODIFIER|FAM109B|ENSG00000177096|transcript|ENST00000419475|protein_coding||c.*537G>A|||||2238|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000422252|nonsense_mediated_decay|1/3|n.88G>A||||||,A|non_coding_exon_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000484235|retained_intron|1/2|n.157G>A|||||| 22 42475898 . G C . . ANN=C|synonymous_variant|LOW|SMDT1|ENSG00000183172|transcript|ENST00000331479|protein_coding|1/3|c.126G>C|p.Leu42Leu|200/1567|126/324|42/107||,C|sequence_feature|LOW|SMDT1|ENSG00000183172|transit_peptide:Mitochondrion|ENST00000331479|protein_coding|1/3|c.126G>C||||||,C|upstream_gene_variant|MODIFIER|snoU13|ENSG00000238498|transcript|ENST00000458891|snoRNA||n.-1C>G|||||3733|,C|downstream_gene_variant|MODIFIER|FAM109B|ENSG00000177096|transcript|ENST00000321753|protein_coding||c.*967G>C|||||453|,C|downstream_gene_variant|MODIFIER|FAM109B|ENSG00000177096|transcript|ENST00000419475|protein_coding||c.*537G>C|||||2276|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000422252|nonsense_mediated_decay|1/3|n.126G>C||||||,C|non_coding_exon_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000484235|retained_intron|1/2|n.195G>C|||||| 22 42475948 . A G . . ANN=G|missense_variant|MODERATE|SMDT1|ENSG00000183172|transcript|ENST00000331479|protein_coding|1/3|c.176A>G|p.Lys59Arg|250/1567|176/324|59/107||,G|upstream_gene_variant|MODIFIER|snoU13|ENSG00000238498|transcript|ENST00000458891|snoRNA||n.-1T>C|||||3783|,G|downstream_gene_variant|MODIFIER|FAM109B|ENSG00000177096|transcript|ENST00000321753|protein_coding||c.*967A>G|||||503|,G|downstream_gene_variant|MODIFIER|FAM109B|ENSG00000177096|transcript|ENST00000419475|protein_coding||c.*537A>G|||||2326|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000422252|nonsense_mediated_decay|1/2|n.137+39A>G||||||,G|non_coding_exon_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000484235|retained_intron|1/2|n.245A>G|||||| 22 42475971 . C T . . ANN=T|upstream_gene_variant|MODIFIER|snoU13|ENSG00000238498|transcript|ENST00000458891|snoRNA||n.-1G>A|||||3806|,T|downstream_gene_variant|MODIFIER|FAM109B|ENSG00000177096|transcript|ENST00000321753|protein_coding||c.*967C>T|||||526|,T|downstream_gene_variant|MODIFIER|FAM109B|ENSG00000177096|transcript|ENST00000419475|protein_coding||c.*537C>T|||||2349|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000331479|protein_coding|1/2|c.186+13C>T||||||,T|intron_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000422252|nonsense_mediated_decay|1/2|n.137+62C>T||||||,T|intron_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000484235|retained_intron|1/1|n.255+13C>T|||||| 22 42476004 . T C . . ANN=C|upstream_gene_variant|MODIFIER|snoU13|ENSG00000238498|transcript|ENST00000458891|snoRNA||n.-1A>G|||||3839|,C|downstream_gene_variant|MODIFIER|FAM109B|ENSG00000177096|transcript|ENST00000321753|protein_coding||c.*967T>C|||||559|,C|downstream_gene_variant|MODIFIER|FAM109B|ENSG00000177096|transcript|ENST00000419475|protein_coding||c.*537T>C|||||2382|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000331479|protein_coding|1/2|c.186+46T>C||||||,C|intron_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000422252|nonsense_mediated_decay|1/2|n.137+95T>C||||||,C|intron_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000484235|retained_intron|1/1|n.255+46T>C|||||| 22 42477884 . A G . . ANN=G|downstream_gene_variant|MODIFIER|FAM109B|ENSG00000177096|transcript|ENST00000321753|protein_coding||c.*967A>G|||||2439|,G|downstream_gene_variant|MODIFIER|NDUFA6|ENSG00000184983|transcript|ENST00000498737|protein_coding||c.*598T>C|||||3645|,G|downstream_gene_variant|MODIFIER|FAM109B|ENSG00000177096|transcript|ENST00000419475|protein_coding||c.*537A>G|||||4262|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|NDUFA6|ENSG00000184983|transcript|ENST00000602404|protein_coding||c.*422T>C|||||3645|,G|downstream_gene_variant|MODIFIER|NDUFA6|ENSG00000184983|transcript|ENST00000470753|protein_coding||c.*408T>C|||||4236|,G|intron_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000331479|protein_coding|1/2|c.187-45A>G||||||,G|intron_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000422252|nonsense_mediated_decay|1/2|n.138-45A>G||||||,G|intron_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000484235|retained_intron|1/1|n.256-45A>G|||||| 22 42477935 . T A . . ANN=A|missense_variant|MODERATE|SMDT1|ENSG00000183172|transcript|ENST00000331479|protein_coding|2/3|c.193T>A|p.Phe65Ile|267/1567|193/324|65/107||,A|sequence_feature|LOW|SMDT1|ENSG00000183172|transmembrane_region:Transmembrane_region|ENST00000331479|protein_coding|2/3|c.193T>A||||||,A|downstream_gene_variant|MODIFIER|FAM109B|ENSG00000177096|transcript|ENST00000321753|protein_coding||c.*967T>A|||||2490|,A|downstream_gene_variant|MODIFIER|NDUFA6|ENSG00000184983|transcript|ENST00000498737|protein_coding||c.*598A>T|||||3594|,A|downstream_gene_variant|MODIFIER|FAM109B|ENSG00000177096|transcript|ENST00000419475|protein_coding||c.*537T>A|||||4313|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|NDUFA6|ENSG00000184983|transcript|ENST00000602404|protein_coding||c.*422A>T|||||3594|,A|downstream_gene_variant|MODIFIER|NDUFA6|ENSG00000184983|transcript|ENST00000470753|protein_coding||c.*408A>T|||||4185|,A|non_coding_exon_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000422252|nonsense_mediated_decay|2/3|n.144T>A||||||,A|non_coding_exon_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000484235|retained_intron|2/2|n.262T>A|||||| 22 42477982 . C T . . ANN=T|synonymous_variant|LOW|SMDT1|ENSG00000183172|transcript|ENST00000331479|protein_coding|2/3|c.240C>T|p.Val80Val|314/1567|240/324|80/107||,T|sequence_feature|LOW|SMDT1|ENSG00000183172|transmembrane_region:Transmembrane_region|ENST00000331479|protein_coding|2/3|c.240C>T||||||,T|3_prime_UTR_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000422252|nonsense_mediated_decay|2/3|n.*17C>T|||||17|,T|downstream_gene_variant|MODIFIER|FAM109B|ENSG00000177096|transcript|ENST00000321753|protein_coding||c.*967C>T|||||2537|,T|downstream_gene_variant|MODIFIER|NDUFA6|ENSG00000184983|transcript|ENST00000498737|protein_coding||c.*598G>A|||||3547|,T|downstream_gene_variant|MODIFIER|FAM109B|ENSG00000177096|transcript|ENST00000419475|protein_coding||c.*537C>T|||||4360|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|NDUFA6|ENSG00000184983|transcript|ENST00000602404|protein_coding||c.*422G>A|||||3547|,T|downstream_gene_variant|MODIFIER|NDUFA6|ENSG00000184983|transcript|ENST00000470753|protein_coding||c.*408G>A|||||4138|,T|non_coding_exon_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000422252|nonsense_mediated_decay|2/3|n.*17C>T||||||,T|non_coding_exon_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000484235|retained_intron|2/2|n.309C>T|||||| 22 42478045 . G C . . ANN=C|missense_variant|MODERATE|SMDT1|ENSG00000183172|transcript|ENST00000331479|protein_coding|2/3|c.303G>C|p.Glu101Asp|377/1567|303/324|101/107||,C|sequence_feature|LOW|SMDT1|ENSG00000183172|compositionally_biased_region:Asp/Glu-rich|ENST00000331479|protein_coding|2/3|c.303G>C||||||,C|3_prime_UTR_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000422252|nonsense_mediated_decay|2/3|n.*80G>C|||||80|,C|downstream_gene_variant|MODIFIER|FAM109B|ENSG00000177096|transcript|ENST00000321753|protein_coding||c.*967G>C|||||2600|,C|downstream_gene_variant|MODIFIER|NDUFA6|ENSG00000184983|transcript|ENST00000498737|protein_coding||c.*598C>G|||||3484|,C|downstream_gene_variant|MODIFIER|FAM109B|ENSG00000177096|transcript|ENST00000419475|protein_coding||c.*537G>C|||||4423|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|NDUFA6|ENSG00000184983|transcript|ENST00000602404|protein_coding||c.*422C>G|||||3484|,C|downstream_gene_variant|MODIFIER|NDUFA6|ENSG00000184983|transcript|ENST00000470753|protein_coding||c.*408C>G|||||4075|,C|non_coding_exon_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000422252|nonsense_mediated_decay|2/3|n.*80G>C||||||,C|non_coding_exon_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000484235|retained_intron|2/2|n.372G>C|||||| 22 42478099 . G A . . ANN=A|downstream_gene_variant|MODIFIER|FAM109B|ENSG00000177096|transcript|ENST00000321753|protein_coding||c.*967G>A|||||2654|,A|downstream_gene_variant|MODIFIER|NDUFA6|ENSG00000184983|transcript|ENST00000498737|protein_coding||c.*598C>T|||||3430|,A|downstream_gene_variant|MODIFIER|FAM109B|ENSG00000177096|transcript|ENST00000419475|protein_coding||c.*537G>A|||||4477|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|NDUFA6|ENSG00000184983|transcript|ENST00000602404|protein_coding||c.*422C>T|||||3430|,A|downstream_gene_variant|MODIFIER|NDUFA6|ENSG00000184983|transcript|ENST00000470753|protein_coding||c.*408C>T|||||4021|,A|intron_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000331479|protein_coding|2/2|c.*3+30G>A||||||,A|intron_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000422252|nonsense_mediated_decay|2/2|n.*104+30G>A||||||,A|non_coding_exon_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000484235|retained_intron|2/2|n.426G>A|||||| 22 42482164 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|NDUFA6|ENSG00000184983|transcript|ENST00000498737|protein_coding|3/3|c.*23C>T|||||23|,A|3_prime_UTR_variant|MODIFIER|NDUFA6|ENSG00000184983|transcript|ENST00000602404|protein_coding|3/3|c.*23C>T|||||23|,A|3_prime_UTR_variant|MODIFIER|NDUFA6|ENSG00000184983|transcript|ENST00000470753|protein_coding|2/2|c.*23C>T|||||23|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense||n.-1G>A|||||4771|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.-1G>A|||||4796|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense||n.-1G>A|||||4796|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608974|antisense||n.-1G>A|||||4807|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.-1G>A|||||4807|,A|downstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000331479|protein_coding||c.*398G>A|||||1876|,A|downstream_gene_variant|MODIFIER|RP1-257I20.14|ENSG00000270083|transcript|ENST00000602718|sense_intronic||n.*399C>T|||||3470|,A|downstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000422252|nonsense_mediated_decay||n.*252G>A|||||2807|,A|downstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000484235|retained_intron||n.*556G>A|||||3935| 22 42482177 . C A . . ANN=A|3_prime_UTR_variant|MODIFIER|NDUFA6|ENSG00000184983|transcript|ENST00000498737|protein_coding|3/3|c.*10G>T|||||10|,A|3_prime_UTR_variant|MODIFIER|NDUFA6|ENSG00000184983|transcript|ENST00000602404|protein_coding|3/3|c.*10G>T|||||10|,A|3_prime_UTR_variant|MODIFIER|NDUFA6|ENSG00000184983|transcript|ENST00000470753|protein_coding|2/2|c.*10G>T|||||10|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense||n.-1C>A|||||4758|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.-1C>A|||||4783|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense||n.-1C>A|||||4783|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608974|antisense||n.-1C>A|||||4794|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.-1C>A|||||4794|,A|downstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000331479|protein_coding||c.*398C>A|||||1889|,A|downstream_gene_variant|MODIFIER|RP1-257I20.14|ENSG00000270083|transcript|ENST00000602718|sense_intronic||n.*399G>T|||||3457|,A|downstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000422252|nonsense_mediated_decay||n.*252C>A|||||2820|,A|downstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000484235|retained_intron||n.*556C>A|||||3948| 22 42482195 . C T . . ANN=T|missense_variant|MODERATE|NDUFA6|ENSG00000184983|transcript|ENST00000498737|protein_coding|3/3|c.457G>A|p.Asp153Asn|590/1256|457/465|153/154||,T|missense_variant|MODERATE|NDUFA6|ENSG00000184983|transcript|ENST00000602404|protein_coding|3/3|c.379G>A|p.Asp127Asn|414/1080|379/387|127/128||,T|missense_variant|MODERATE|NDUFA6|ENSG00000184983|transcript|ENST00000470753|protein_coding|2/2|c.208G>A|p.Asp70Asn|400/475|208/216|70/71||,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense||n.-1C>T|||||4740|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.-1C>T|||||4765|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense||n.-1C>T|||||4765|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608974|antisense||n.-1C>T|||||4776|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.-1C>T|||||4776|,T|downstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000331479|protein_coding||c.*398C>T|||||1907|,T|downstream_gene_variant|MODIFIER|RP1-257I20.14|ENSG00000270083|transcript|ENST00000602718|sense_intronic||n.*399G>A|||||3439|,T|downstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000422252|nonsense_mediated_decay||n.*252C>T|||||2838|,T|downstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000484235|retained_intron||n.*556C>T|||||3966| 22 42482252 . G A . . ANN=A|missense_variant|MODERATE|NDUFA6|ENSG00000184983|transcript|ENST00000498737|protein_coding|3/3|c.400C>T|p.His134Tyr|533/1256|400/465|134/154||,A|missense_variant|MODERATE|NDUFA6|ENSG00000184983|transcript|ENST00000602404|protein_coding|3/3|c.322C>T|p.His108Tyr|357/1080|322/387|108/128||,A|missense_variant|MODERATE|NDUFA6|ENSG00000184983|transcript|ENST00000470753|protein_coding|2/2|c.151C>T|p.His51Tyr|343/475|151/216|51/71||,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense||n.-1G>A|||||4683|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.-1G>A|||||4708|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense||n.-1G>A|||||4708|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608974|antisense||n.-1G>A|||||4719|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.-1G>A|||||4719|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000595777|antisense||n.-1G>A|||||4956|,A|downstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000331479|protein_coding||c.*398G>A|||||1964|,A|downstream_gene_variant|MODIFIER|RP1-257I20.14|ENSG00000270083|transcript|ENST00000602718|sense_intronic||n.*399C>T|||||3382|,A|downstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000422252|nonsense_mediated_decay||n.*252G>A|||||2895|,A|downstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000484235|retained_intron||n.*556G>A|||||4023| 22 42482368 . A G . . ANN=G|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense||n.-1A>G|||||4567|,G|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.-1A>G|||||4592|,G|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense||n.-1A>G|||||4592|,G|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608974|antisense||n.-1A>G|||||4603|,G|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.-1A>G|||||4603|,G|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000595777|antisense||n.-1A>G|||||4840|,G|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000600968|antisense||n.-1A>G|||||4988|,G|downstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000331479|protein_coding||c.*398A>G|||||2080|,G|downstream_gene_variant|MODIFIER|RP1-257I20.14|ENSG00000270083|transcript|ENST00000602718|sense_intronic||n.*399T>C|||||3266|,G|downstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000422252|nonsense_mediated_decay||n.*252A>G|||||3011|,G|downstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000484235|retained_intron||n.*556A>G|||||4139|,G|intron_variant|MODIFIER|NDUFA6|ENSG00000184983|transcript|ENST00000498737|protein_coding|2/2|c.334-50T>C||||||,G|intron_variant|MODIFIER|NDUFA6|ENSG00000184983|transcript|ENST00000602404|protein_coding|2/2|c.256-50T>C||||||,G|intron_variant|MODIFIER|NDUFA6|ENSG00000184983|transcript|ENST00000470753|protein_coding|1/1|c.85-50T>C|||||| 22 42483046 . T G . . ANN=G|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense||n.-1T>G|||||3889|,G|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.-1T>G|||||3914|,G|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense||n.-1T>G|||||3914|,G|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608974|antisense||n.-1T>G|||||3925|,G|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.-1T>G|||||3925|,G|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000595777|antisense||n.-1T>G|||||4162|,G|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000600968|antisense||n.-1T>G|||||4310|,G|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000434834|antisense||n.-1T>G|||||4360|,G|downstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000331479|protein_coding||c.*398T>G|||||2758|,G|downstream_gene_variant|MODIFIER|RP1-257I20.14|ENSG00000270083|transcript|ENST00000602718|sense_intronic||n.*399A>C|||||2588|,G|downstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000422252|nonsense_mediated_decay||n.*252T>G|||||3689|,G|downstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000484235|retained_intron||n.*556T>G|||||4817|,G|intron_variant|MODIFIER|NDUFA6|ENSG00000184983|transcript|ENST00000498737|protein_coding|2/2|c.333+18A>C||||||,G|intron_variant|MODIFIER|NDUFA6|ENSG00000184983|transcript|ENST00000602404|protein_coding|2/2|c.255+18A>C||||||,G|intron_variant|MODIFIER|NDUFA6|ENSG00000184983|transcript|ENST00000470753|protein_coding|1/1|c.84+18A>C|||||| 22 42483090 . T C . . ANN=C|missense_variant|MODERATE|NDUFA6|ENSG00000184983|transcript|ENST00000498737|protein_coding|2/3|c.307A>G|p.Arg103Gly|440/1256|307/465|103/154||,C|missense_variant|MODERATE|NDUFA6|ENSG00000184983|transcript|ENST00000602404|protein_coding|2/3|c.229A>G|p.Arg77Gly|264/1080|229/387|77/128||,C|missense_variant|MODERATE|NDUFA6|ENSG00000184983|transcript|ENST00000470753|protein_coding|1/2|c.58A>G|p.Arg20Gly|250/475|58/216|20/71||,C|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense||n.-1T>C|||||3845|,C|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.-1T>C|||||3870|,C|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense||n.-1T>C|||||3870|,C|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608974|antisense||n.-1T>C|||||3881|,C|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.-1T>C|||||3881|,C|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000595777|antisense||n.-1T>C|||||4118|,C|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000600968|antisense||n.-1T>C|||||4266|,C|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000434834|antisense||n.-1T>C|||||4316|,C|downstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000331479|protein_coding||c.*398T>C|||||2802|,C|downstream_gene_variant|MODIFIER|RP1-257I20.14|ENSG00000270083|transcript|ENST00000602718|sense_intronic||n.*399A>G|||||2544|,C|downstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000422252|nonsense_mediated_decay||n.*252T>C|||||3733|,C|downstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000484235|retained_intron||n.*556T>C|||||4861| 22 42483134 . T G . . ANN=G|missense_variant|MODERATE|NDUFA6|ENSG00000184983|transcript|ENST00000498737|protein_coding|2/3|c.263A>C|p.Lys88Thr|396/1256|263/465|88/154||,G|missense_variant|MODERATE|NDUFA6|ENSG00000184983|transcript|ENST00000602404|protein_coding|2/3|c.185A>C|p.Lys62Thr|220/1080|185/387|62/128||,G|missense_variant|MODERATE|NDUFA6|ENSG00000184983|transcript|ENST00000470753|protein_coding|1/2|c.14A>C|p.Lys5Thr|206/475|14/216|5/71||,G|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense||n.-1T>G|||||3801|,G|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.-1T>G|||||3826|,G|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense||n.-1T>G|||||3826|,G|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608974|antisense||n.-1T>G|||||3837|,G|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.-1T>G|||||3837|,G|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000595777|antisense||n.-1T>G|||||4074|,G|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000600968|antisense||n.-1T>G|||||4222|,G|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000434834|antisense||n.-1T>G|||||4272|,G|downstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000331479|protein_coding||c.*398T>G|||||2846|,G|downstream_gene_variant|MODIFIER|RP1-257I20.14|ENSG00000270083|transcript|ENST00000602718|sense_intronic||n.*399A>C|||||2500|,G|downstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000422252|nonsense_mediated_decay||n.*252T>G|||||3777|,G|downstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000484235|retained_intron||n.*556T>G|||||4905| 22 42483169 . G T . . ANN=T|missense_variant|MODERATE|NDUFA6|ENSG00000184983|transcript|ENST00000498737|protein_coding|2/3|c.228C>A|p.Phe76Leu|361/1256|228/465|76/154||,T|missense_variant|MODERATE|NDUFA6|ENSG00000184983|transcript|ENST00000602404|protein_coding|2/3|c.150C>A|p.Phe50Leu|185/1080|150/387|50/128||,T|5_prime_UTR_variant|MODIFIER|NDUFA6|ENSG00000184983|transcript|ENST00000470753|protein_coding|1/2|c.-22C>A|||||22|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense||n.-1G>T|||||3766|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.-1G>T|||||3791|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense||n.-1G>T|||||3791|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608974|antisense||n.-1G>T|||||3802|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.-1G>T|||||3802|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000595777|antisense||n.-1G>T|||||4039|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000600968|antisense||n.-1G>T|||||4187|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000434834|antisense||n.-1G>T|||||4237|,T|downstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000331479|protein_coding||c.*398G>T|||||2881|,T|downstream_gene_variant|MODIFIER|RP1-257I20.14|ENSG00000270083|transcript|ENST00000602718|sense_intronic||n.*399C>A|||||2465|,T|downstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000422252|nonsense_mediated_decay||n.*252G>T|||||3812|,T|downstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000484235|retained_intron||n.*556G>T|||||4940| 22 42486611 . A G . . ANN=G|splice_region_variant&synonymous_variant|LOW|NDUFA6|ENSG00000184983|transcript|ENST00000498737|protein_coding|1/3|c.216T>C|p.Thr72Thr|349/1256|216/465|72/154||,G|splice_region_variant&synonymous_variant|LOW|NDUFA6|ENSG00000184983|transcript|ENST00000602404|protein_coding|1/3|c.138T>C|p.Thr46Thr|173/1080|138/387|46/128||,G|upstream_gene_variant|MODIFIER|RP1-257I20.14|ENSG00000270083|transcript|ENST00000602718|sense_intronic||n.-1T>C|||||579|,G|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense||n.-1A>G|||||324|,G|upstream_gene_variant|MODIFIER|NDUFA6|ENSG00000184983|transcript|ENST00000470753|protein_coding||c.-193T>C|||||3272|,G|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.-1A>G|||||349|,G|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense||n.-1A>G|||||349|,G|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608974|antisense||n.-1A>G|||||360|,G|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.-1A>G|||||360|,G|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000595777|antisense||n.-1A>G|||||597|,G|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000600968|antisense||n.-1A>G|||||745|,G|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000434834|antisense||n.-1A>G|||||795| 22 42486662 . C T . . ANN=T|synonymous_variant|LOW|NDUFA6|ENSG00000184983|transcript|ENST00000498737|protein_coding|1/3|c.165G>A|p.Lys55Lys|298/1256|165/465|55/154||,T|synonymous_variant|LOW|NDUFA6|ENSG00000184983|transcript|ENST00000602404|protein_coding|1/3|c.87G>A|p.Lys29Lys|122/1080|87/387|29/128||,T|upstream_gene_variant|MODIFIER|RP1-257I20.14|ENSG00000270083|transcript|ENST00000602718|sense_intronic||n.-1G>A|||||630|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense||n.-1C>T|||||273|,T|upstream_gene_variant|MODIFIER|NDUFA6|ENSG00000184983|transcript|ENST00000470753|protein_coding||c.-193G>A|||||3323|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.-1C>T|||||298|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense||n.-1C>T|||||298|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608974|antisense||n.-1C>T|||||309|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.-1C>T|||||309|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000595777|antisense||n.-1C>T|||||546|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000600968|antisense||n.-1C>T|||||694|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000434834|antisense||n.-1C>T|||||744| 22 42486701 . G A . . ANN=A|synonymous_variant|LOW|NDUFA6|ENSG00000184983|transcript|ENST00000498737|protein_coding|1/3|c.126C>T|p.Phe42Phe|259/1256|126/465|42/154||,A|synonymous_variant|LOW|NDUFA6|ENSG00000184983|transcript|ENST00000602404|protein_coding|1/3|c.48C>T|p.Phe16Phe|83/1080|48/387|16/128||,A|upstream_gene_variant|MODIFIER|RP1-257I20.14|ENSG00000270083|transcript|ENST00000602718|sense_intronic||n.-1C>T|||||669|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense||n.-1G>A|||||234|,A|upstream_gene_variant|MODIFIER|NDUFA6|ENSG00000184983|transcript|ENST00000470753|protein_coding||c.-193C>T|||||3362|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.-1G>A|||||259|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense||n.-1G>A|||||259|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608974|antisense||n.-1G>A|||||270|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.-1G>A|||||270|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000595777|antisense||n.-1G>A|||||507|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000600968|antisense||n.-1G>A|||||655|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000434834|antisense||n.-1G>A|||||705| 22 42486713 . G A . . ANN=A|synonymous_variant|LOW|NDUFA6|ENSG00000184983|transcript|ENST00000498737|protein_coding|1/3|c.114C>T|p.Thr38Thr|247/1256|114/465|38/154||,A|synonymous_variant|LOW|NDUFA6|ENSG00000184983|transcript|ENST00000602404|protein_coding|1/3|c.36C>T|p.Thr12Thr|71/1080|36/387|12/128||,A|upstream_gene_variant|MODIFIER|RP1-257I20.14|ENSG00000270083|transcript|ENST00000602718|sense_intronic||n.-1C>T|||||681|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense||n.-1G>A|||||222|,A|upstream_gene_variant|MODIFIER|NDUFA6|ENSG00000184983|transcript|ENST00000470753|protein_coding||c.-193C>T|||||3374|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.-1G>A|||||247|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense||n.-1G>A|||||247|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608974|antisense||n.-1G>A|||||258|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.-1G>A|||||258|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000595777|antisense||n.-1G>A|||||495|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000600968|antisense||n.-1G>A|||||643|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000434834|antisense||n.-1G>A|||||693| 22 42486723 . G A . . ANN=A|missense_variant|MODERATE|NDUFA6|ENSG00000184983|transcript|ENST00000498737|protein_coding|1/3|c.104C>T|p.Ala35Val|237/1256|104/465|35/154||,A|missense_variant|MODERATE|NDUFA6|ENSG00000184983|transcript|ENST00000602404|protein_coding|1/3|c.26C>T|p.Ala9Val|61/1080|26/387|9/128||,A|upstream_gene_variant|MODIFIER|RP1-257I20.14|ENSG00000270083|transcript|ENST00000602718|sense_intronic||n.-1C>T|||||691|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense||n.-1G>A|||||212|,A|upstream_gene_variant|MODIFIER|NDUFA6|ENSG00000184983|transcript|ENST00000470753|protein_coding||c.-193C>T|||||3384|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.-1G>A|||||237|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense||n.-1G>A|||||237|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608974|antisense||n.-1G>A|||||248|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.-1G>A|||||248|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000595777|antisense||n.-1G>A|||||485|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000600968|antisense||n.-1G>A|||||633|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000434834|antisense||n.-1G>A|||||683| 22 42486742 . C T . . ANN=T|missense_variant|MODERATE|NDUFA6|ENSG00000184983|transcript|ENST00000498737|protein_coding|1/3|c.85G>A|p.Gly29Arg|218/1256|85/465|29/154||,T|missense_variant|MODERATE|NDUFA6|ENSG00000184983|transcript|ENST00000602404|protein_coding|1/3|c.7G>A|p.Gly3Arg|42/1080|7/387|3/128||,T|upstream_gene_variant|MODIFIER|RP1-257I20.14|ENSG00000270083|transcript|ENST00000602718|sense_intronic||n.-1G>A|||||710|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense||n.-1C>T|||||193|,T|upstream_gene_variant|MODIFIER|NDUFA6|ENSG00000184983|transcript|ENST00000470753|protein_coding||c.-193G>A|||||3403|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.-1C>T|||||218|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense||n.-1C>T|||||218|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608974|antisense||n.-1C>T|||||229|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.-1C>T|||||229|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000595777|antisense||n.-1C>T|||||466|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000600968|antisense||n.-1C>T|||||614|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000434834|antisense||n.-1C>T|||||664| 22 42486755 . A C . . ANN=C|missense_variant|MODERATE|NDUFA6|ENSG00000184983|transcript|ENST00000498737|protein_coding|1/3|c.72T>G|p.Phe24Leu|205/1256|72/465|24/154||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|NDUFA6|ENSG00000184983|transcript|ENST00000602404|protein_coding|1/3|c.-7T>G||||||,C|5_prime_UTR_variant|MODIFIER|NDUFA6|ENSG00000184983|transcript|ENST00000602404|protein_coding|1/3|c.-7T>G|||||7|,C|upstream_gene_variant|MODIFIER|RP1-257I20.14|ENSG00000270083|transcript|ENST00000602718|sense_intronic||n.-1T>G|||||723|,C|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense||n.-1A>C|||||180|,C|upstream_gene_variant|MODIFIER|NDUFA6|ENSG00000184983|transcript|ENST00000470753|protein_coding||c.-193T>G|||||3416|,C|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.-1A>C|||||205|,C|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense||n.-1A>C|||||205|,C|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608974|antisense||n.-1A>C|||||216|,C|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.-1A>C|||||216|,C|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000595777|antisense||n.-1A>C|||||453|,C|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000600968|antisense||n.-1A>C|||||601|,C|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000434834|antisense||n.-1A>C|||||651| 22 42486789 . G A . . ANN=A|missense_variant|MODERATE|NDUFA6|ENSG00000184983|transcript|ENST00000498737|protein_coding|1/3|c.38C>T|p.Ala13Val|171/1256|38/465|13/154||,A|upstream_gene_variant|MODIFIER|RP1-257I20.14|ENSG00000270083|transcript|ENST00000602718|sense_intronic||n.-1C>T|||||757|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense||n.-1G>A|||||146|,A|upstream_gene_variant|MODIFIER|NDUFA6|ENSG00000184983|transcript|ENST00000602404|protein_coding||c.-36C>T|||||6|,A|upstream_gene_variant|MODIFIER|NDUFA6|ENSG00000184983|transcript|ENST00000470753|protein_coding||c.-193C>T|||||3450|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.-1G>A|||||171|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense||n.-1G>A|||||171|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608974|antisense||n.-1G>A|||||182|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.-1G>A|||||182|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000595777|antisense||n.-1G>A|||||419|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000600968|antisense||n.-1G>A|||||567|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000434834|antisense||n.-1G>A|||||617| 22 42486842 . G GC . . ANN=C|5_prime_UTR_variant|MODIFIER|NDUFA6|ENSG00000184983|transcript|ENST00000498737|protein_coding|1/3|c.-17dupG|||||17|,C|upstream_gene_variant|MODIFIER|RP1-257I20.14|ENSG00000270083|transcript|ENST00000602718|sense_intronic||n.-1dupG|||||811|,C|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense||n.-1_-1insC|||||92|,C|upstream_gene_variant|MODIFIER|NDUFA6|ENSG00000184983|transcript|ENST00000602404|protein_coding||c.-36dupG|||||60|,C|upstream_gene_variant|MODIFIER|NDUFA6|ENSG00000184983|transcript|ENST00000470753|protein_coding||c.-193dupG|||||3504|,C|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.-1_-1insC|||||117|,C|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense||n.-1_-1insC|||||117|,C|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608974|antisense||n.-1_-1insC|||||128|,C|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.-1_-1insC|||||128|,C|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000595777|antisense||n.-1_-1insC|||||365|,C|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000600968|antisense||n.-1_-1insC|||||513|,C|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000434834|antisense||n.-1_-1insC|||||563| 22 42522613 . G C . . ANN=C|missense_variant|MODERATE|CYP2D6|ENSG00000100197|transcript|ENST00000360608|protein_coding|9/9|c.1457C>G|p.Thr486Ser|1572/1684|1457/1494|486/497||,C|missense_variant|MODERATE|CYP2D6|ENSG00000100197|transcript|ENST00000389970|protein_coding|10/10|c.1457C>G|p.Thr486Ser|1547/1657|1457/1494|486/497||,C|missense_variant|MODERATE|CYP2D6|ENSG00000100197|transcript|ENST00000359033|protein_coding|8/8|c.1304C>G|p.Thr435Ser|1378/1433|1304/1341|435/446||,C|3_prime_UTR_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000360124|nonsense_mediated_decay|7/7|n.*532C>G|||||1291|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.*1521G>C|||||1259|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.*774G>C|||||1649|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000595777|antisense||n.*833G>C|||||1649|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000600968|antisense||n.*662G>C|||||1649|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000434834|antisense||n.*568G>C|||||1606|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000610250|antisense||n.*389G>C|||||1709|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000547929|retained_intron||n.*708G>C|||||1709|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609499|retained_intron||n.*364G>C|||||1709|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609833|retained_intron||n.*286G>C|||||1709|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608643|retained_intron||n.*877G>C|||||1724|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000451451|antisense||n.*594G>C|||||1580|,C|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense|5/6|n.1718+1201G>C||||||,C|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense|3/3|n.1046+2046G>C||||||,C|non_coding_exon_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000360124|nonsense_mediated_decay|7/7|n.*532C>G||||||,C|non_coding_exon_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000488442|retained_intron|8/8|n.2181C>G|||||| 22 42523639 . G GGACA . . ANN=GACA|splice_region_variant&intron_variant|LOW|CYP2D6|ENSG00000100197|transcript|ENST00000360608|protein_coding|6/8|c.986-7_986-4dupTGTC||||||,GACA|splice_region_variant&intron_variant|LOW|CYP2D6|ENSG00000100197|transcript|ENST00000360124|nonsense_mediated_decay|4/6|n.*61-7_*61-4dupTGTC||||||,GACA|splice_region_variant&intron_variant|LOW|CYP2D6|ENSG00000100197|transcript|ENST00000389970|protein_coding|7/9|c.986-7_986-4dupTGTC||||||,GACA|splice_region_variant&intron_variant|LOW|CYP2D6|ENSG00000100197|transcript|ENST00000488442|retained_intron|5/7|n.1710-7_1710-4dupTGTC||||||,GACA|splice_region_variant&intron_variant|LOW|CYP2D6|ENSG00000100197|transcript|ENST00000359033|protein_coding|5/7|c.833-7_833-4dupTGTC||||||,GACA|upstream_gene_variant|MODIFIER|RP4-669P10.19|ENSG00000227370|transcript|ENST00000417586|processed_pseudogene||n.-1_-1insGACA|||||4910|,GACA|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608288|antisense||n.-1_-1insGACA|||||4393|,GACA|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608491|antisense||n.-1_-1insGACA|||||4393|,GACA|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.*1521_*1521insGACA|||||2286|,GACA|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.*774_*774insGACA|||||2676|,GACA|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000595777|antisense||n.*833_*833insGACA|||||2676|,GACA|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000600968|antisense||n.*662_*662insGACA|||||2676|,GACA|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000434834|antisense||n.*568_*568insGACA|||||2633|,GACA|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000610250|antisense||n.*389_*389insGACA|||||2736|,GACA|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000547929|retained_intron||n.*708_*708insGACA|||||2736|,GACA|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609499|retained_intron||n.*364_*364insGACA|||||2736|,GACA|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609833|retained_intron||n.*286_*286insGACA|||||2736|,GACA|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608643|retained_intron||n.*877_*877insGACA|||||2751|,GACA|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000451451|antisense||n.*594_*594insGACA|||||2607|,GACA|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense|5/6|n.1718+2232_1718+2235dupGACA||||||INFO_REALIGN_3_PRIME,GACA|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense|3/3|n.1046+3077_1046+3080dupGACA||||||INFO_REALIGN_3_PRIME 22 42523805 . C T . . ANN=T|upstream_gene_variant|MODIFIER|RP4-669P10.19|ENSG00000227370|transcript|ENST00000417586|processed_pseudogene||n.-1C>T|||||4745|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608288|antisense||n.-1C>T|||||4228|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608491|antisense||n.-1C>T|||||4228|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.*1521C>T|||||2451|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.*774C>T|||||2841|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000595777|antisense||n.*833C>T|||||2841|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000600968|antisense||n.*662C>T|||||2841|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000434834|antisense||n.*568C>T|||||2798|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000610250|antisense||n.*389C>T|||||2901|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000547929|retained_intron||n.*708C>T|||||2901|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609499|retained_intron||n.*364C>T|||||2901|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609833|retained_intron||n.*286C>T|||||2901|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608643|retained_intron||n.*877C>T|||||2916|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000451451|antisense||n.*594C>T|||||2772|,T|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense|5/6|n.1718+2393C>T||||||,T|intron_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000360608|protein_coding|6/8|c.985+39G>A||||||,T|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense|3/3|n.1046+3238C>T||||||,T|intron_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000360124|nonsense_mediated_decay|4/6|n.*60+39G>A||||||,T|intron_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000389970|protein_coding|7/9|c.985+39G>A||||||,T|intron_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000488442|retained_intron|5/7|n.1709+39G>A||||||,T|intron_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000359033|protein_coding|5/7|c.832+39G>A|||||| 22 42523809 . C T . . ANN=T|upstream_gene_variant|MODIFIER|RP4-669P10.19|ENSG00000227370|transcript|ENST00000417586|processed_pseudogene||n.-1C>T|||||4741|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608288|antisense||n.-1C>T|||||4224|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608491|antisense||n.-1C>T|||||4224|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.*1521C>T|||||2455|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.*774C>T|||||2845|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000595777|antisense||n.*833C>T|||||2845|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000600968|antisense||n.*662C>T|||||2845|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000434834|antisense||n.*568C>T|||||2802|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000610250|antisense||n.*389C>T|||||2905|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000547929|retained_intron||n.*708C>T|||||2905|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609499|retained_intron||n.*364C>T|||||2905|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609833|retained_intron||n.*286C>T|||||2905|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608643|retained_intron||n.*877C>T|||||2920|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000451451|antisense||n.*594C>T|||||2776|,T|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense|5/6|n.1718+2397C>T||||||,T|intron_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000360608|protein_coding|6/8|c.985+35G>A||||||,T|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense|3/3|n.1046+3242C>T||||||,T|intron_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000360124|nonsense_mediated_decay|4/6|n.*60+35G>A||||||,T|intron_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000389970|protein_coding|7/9|c.985+35G>A||||||,T|intron_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000488442|retained_intron|5/7|n.1709+35G>A||||||,T|intron_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000359033|protein_coding|5/7|c.832+35G>A|||||| 22 42523813 . G A . . ANN=A|upstream_gene_variant|MODIFIER|RP4-669P10.19|ENSG00000227370|transcript|ENST00000417586|processed_pseudogene||n.-1G>A|||||4737|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608288|antisense||n.-1G>A|||||4220|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608491|antisense||n.-1G>A|||||4220|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.*1521G>A|||||2459|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.*774G>A|||||2849|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000595777|antisense||n.*833G>A|||||2849|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000600968|antisense||n.*662G>A|||||2849|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000434834|antisense||n.*568G>A|||||2806|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000610250|antisense||n.*389G>A|||||2909|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000547929|retained_intron||n.*708G>A|||||2909|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609499|retained_intron||n.*364G>A|||||2909|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609833|retained_intron||n.*286G>A|||||2909|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608643|retained_intron||n.*877G>A|||||2924|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000451451|antisense||n.*594G>A|||||2780|,A|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense|5/6|n.1718+2401G>A||||||,A|intron_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000360608|protein_coding|6/8|c.985+31C>T||||||,A|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense|3/3|n.1046+3246G>A||||||,A|intron_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000360124|nonsense_mediated_decay|4/6|n.*60+31C>T||||||,A|intron_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000389970|protein_coding|7/9|c.985+31C>T||||||,A|intron_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000488442|retained_intron|5/7|n.1709+31C>T||||||,A|intron_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000359033|protein_coding|5/7|c.832+31C>T|||||| 22 42523832 . A AGAT . . ANN=GAT|upstream_gene_variant|MODIFIER|RP4-669P10.19|ENSG00000227370|transcript|ENST00000417586|processed_pseudogene||n.-1_-1insGAT|||||4717|,GAT|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608288|antisense||n.-1_-1insGAT|||||4200|,GAT|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608491|antisense||n.-1_-1insGAT|||||4200|,GAT|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.*1521_*1521insGAT|||||2479|,GAT|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.*774_*774insGAT|||||2869|,GAT|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000595777|antisense||n.*833_*833insGAT|||||2869|,GAT|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000600968|antisense||n.*662_*662insGAT|||||2869|,GAT|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000434834|antisense||n.*568_*568insGAT|||||2826|,GAT|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000610250|antisense||n.*389_*389insGAT|||||2929|,GAT|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000547929|retained_intron||n.*708_*708insGAT|||||2929|,GAT|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609499|retained_intron||n.*364_*364insGAT|||||2929|,GAT|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609833|retained_intron||n.*286_*286insGAT|||||2929|,GAT|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608643|retained_intron||n.*877_*877insGAT|||||2944|,GAT|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000451451|antisense||n.*594_*594insGAT|||||2800|,ATG|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense|5/6|n.1718+2422_1718+2424dupATG||||||INFO_REALIGN_3_PRIME,GAT|intron_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000360608|protein_coding|6/8|c.985+9_985+11dupATC||||||,ATG|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense|3/3|n.1046+3267_1046+3269dupATG||||||INFO_REALIGN_3_PRIME,GAT|intron_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000360124|nonsense_mediated_decay|4/6|n.*60+9_*60+11dupATC||||||,GAT|intron_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000389970|protein_coding|7/9|c.985+9_985+11dupATC||||||,GAT|intron_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000488442|retained_intron|5/7|n.1709+9_1709+11dupATC||||||,GAT|intron_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000359033|protein_coding|5/7|c.832+9_832+11dupATC|||||| 22 42523833 . G A . . ANN=A|upstream_gene_variant|MODIFIER|RP4-669P10.19|ENSG00000227370|transcript|ENST00000417586|processed_pseudogene||n.-1G>A|||||4717|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608288|antisense||n.-1G>A|||||4200|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608491|antisense||n.-1G>A|||||4200|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.*1521G>A|||||2479|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.*774G>A|||||2869|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000595777|antisense||n.*833G>A|||||2869|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000600968|antisense||n.*662G>A|||||2869|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000434834|antisense||n.*568G>A|||||2826|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000610250|antisense||n.*389G>A|||||2929|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000547929|retained_intron||n.*708G>A|||||2929|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609499|retained_intron||n.*364G>A|||||2929|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609833|retained_intron||n.*286G>A|||||2929|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608643|retained_intron||n.*877G>A|||||2944|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000451451|antisense||n.*594G>A|||||2800|,A|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense|5/6|n.1718+2421G>A||||||,A|intron_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000360608|protein_coding|6/8|c.985+11C>T||||||,A|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense|3/3|n.1046+3266G>A||||||,A|intron_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000360124|nonsense_mediated_decay|4/6|n.*60+11C>T||||||,A|intron_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000389970|protein_coding|7/9|c.985+11C>T||||||,A|intron_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000488442|retained_intron|5/7|n.1709+11C>T||||||,A|intron_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000359033|protein_coding|5/7|c.832+11C>T|||||| 22 42523835 . T C . . ANN=C|upstream_gene_variant|MODIFIER|RP4-669P10.19|ENSG00000227370|transcript|ENST00000417586|processed_pseudogene||n.-1T>C|||||4715|,C|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608288|antisense||n.-1T>C|||||4198|,C|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608491|antisense||n.-1T>C|||||4198|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.*1521T>C|||||2481|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.*774T>C|||||2871|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000595777|antisense||n.*833T>C|||||2871|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000600968|antisense||n.*662T>C|||||2871|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000434834|antisense||n.*568T>C|||||2828|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000610250|antisense||n.*389T>C|||||2931|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000547929|retained_intron||n.*708T>C|||||2931|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609499|retained_intron||n.*364T>C|||||2931|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609833|retained_intron||n.*286T>C|||||2931|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608643|retained_intron||n.*877T>C|||||2946|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000451451|antisense||n.*594T>C|||||2802|,C|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense|5/6|n.1718+2423T>C||||||,C|intron_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000360608|protein_coding|6/8|c.985+9A>G||||||,C|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense|3/3|n.1046+3268T>C||||||,C|intron_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000360124|nonsense_mediated_decay|4/6|n.*60+9A>G||||||,C|intron_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000389970|protein_coding|7/9|c.985+9A>G||||||,C|intron_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000488442|retained_intron|5/7|n.1709+9A>G||||||,C|intron_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000359033|protein_coding|5/7|c.832+9A>G|||||| 22 42523854 . C T . . ANN=T|synonymous_variant|LOW|CYP2D6|ENSG00000100197|transcript|ENST00000360608|protein_coding|6/9|c.975G>A|p.Pro325Pro|1090/1684|975/1494|325/497||,T|synonymous_variant|LOW|CYP2D6|ENSG00000100197|transcript|ENST00000389970|protein_coding|7/10|c.975G>A|p.Pro325Pro|1065/1657|975/1494|325/497||,T|synonymous_variant|LOW|CYP2D6|ENSG00000100197|transcript|ENST00000359033|protein_coding|5/8|c.822G>A|p.Pro274Pro|896/1433|822/1341|274/446||,T|3_prime_UTR_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000360124|nonsense_mediated_decay|4/7|n.*50G>A|||||50|,T|upstream_gene_variant|MODIFIER|RP4-669P10.19|ENSG00000227370|transcript|ENST00000417586|processed_pseudogene||n.-1C>T|||||4696|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608288|antisense||n.-1C>T|||||4179|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608491|antisense||n.-1C>T|||||4179|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.*1521C>T|||||2500|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.*774C>T|||||2890|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000595777|antisense||n.*833C>T|||||2890|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000600968|antisense||n.*662C>T|||||2890|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000434834|antisense||n.*568C>T|||||2847|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000610250|antisense||n.*389C>T|||||2950|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000547929|retained_intron||n.*708C>T|||||2950|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609499|retained_intron||n.*364C>T|||||2950|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609833|retained_intron||n.*286C>T|||||2950|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608643|retained_intron||n.*877C>T|||||2965|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000451451|antisense||n.*594C>T|||||2821|,T|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense|5/6|n.1718+2442C>T||||||,T|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense|3/3|n.1046+3287C>T||||||,T|non_coding_exon_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000360124|nonsense_mediated_decay|4/7|n.*50G>A||||||,T|non_coding_exon_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000488442|retained_intron|5/8|n.1699G>A|||||| 22 42523871 . G A . . ANN=A|missense_variant|MODERATE|CYP2D6|ENSG00000100197|transcript|ENST00000360608|protein_coding|6/9|c.958C>T|p.Leu320Phe|1073/1684|958/1494|320/497||,A|missense_variant|MODERATE|CYP2D6|ENSG00000100197|transcript|ENST00000389970|protein_coding|7/10|c.958C>T|p.Leu320Phe|1048/1657|958/1494|320/497||,A|missense_variant|MODERATE|CYP2D6|ENSG00000100197|transcript|ENST00000359033|protein_coding|5/8|c.805C>T|p.Leu269Phe|879/1433|805/1341|269/446||,A|3_prime_UTR_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000360124|nonsense_mediated_decay|4/7|n.*33C>T|||||33|,A|upstream_gene_variant|MODIFIER|RP4-669P10.19|ENSG00000227370|transcript|ENST00000417586|processed_pseudogene||n.-1G>A|||||4679|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608288|antisense||n.-1G>A|||||4162|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608491|antisense||n.-1G>A|||||4162|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.*1521G>A|||||2517|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.*774G>A|||||2907|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000595777|antisense||n.*833G>A|||||2907|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000600968|antisense||n.*662G>A|||||2907|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000434834|antisense||n.*568G>A|||||2864|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000610250|antisense||n.*389G>A|||||2967|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000547929|retained_intron||n.*708G>A|||||2967|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609499|retained_intron||n.*364G>A|||||2967|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609833|retained_intron||n.*286G>A|||||2967|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608643|retained_intron||n.*877G>A|||||2982|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000451451|antisense||n.*594G>A|||||2838|,A|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense|5/6|n.1718+2459G>A||||||,A|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense|3/3|n.1046+3304G>A||||||,A|non_coding_exon_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000360124|nonsense_mediated_decay|4/7|n.*33C>T||||||,A|non_coding_exon_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000488442|retained_intron|5/8|n.1682C>T|||||| 22 42523872 . C T . . ANN=T|synonymous_variant|LOW|CYP2D6|ENSG00000100197|transcript|ENST00000360608|protein_coding|6/9|c.957G>A|p.Leu319Leu|1072/1684|957/1494|319/497||,T|synonymous_variant|LOW|CYP2D6|ENSG00000100197|transcript|ENST00000389970|protein_coding|7/10|c.957G>A|p.Leu319Leu|1047/1657|957/1494|319/497||,T|synonymous_variant|LOW|CYP2D6|ENSG00000100197|transcript|ENST00000359033|protein_coding|5/8|c.804G>A|p.Leu268Leu|878/1433|804/1341|268/446||,T|3_prime_UTR_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000360124|nonsense_mediated_decay|4/7|n.*32G>A|||||32|,T|upstream_gene_variant|MODIFIER|RP4-669P10.19|ENSG00000227370|transcript|ENST00000417586|processed_pseudogene||n.-1C>T|||||4678|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608288|antisense||n.-1C>T|||||4161|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608491|antisense||n.-1C>T|||||4161|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.*1521C>T|||||2518|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.*774C>T|||||2908|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000595777|antisense||n.*833C>T|||||2908|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000600968|antisense||n.*662C>T|||||2908|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000434834|antisense||n.*568C>T|||||2865|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000610250|antisense||n.*389C>T|||||2968|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000547929|retained_intron||n.*708C>T|||||2968|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609499|retained_intron||n.*364C>T|||||2968|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609833|retained_intron||n.*286C>T|||||2968|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608643|retained_intron||n.*877C>T|||||2983|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000451451|antisense||n.*594C>T|||||2839|,T|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense|5/6|n.1718+2460C>T||||||,T|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense|3/3|n.1046+3305C>T||||||,T|non_coding_exon_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000360124|nonsense_mediated_decay|4/7|n.*32G>A||||||,T|non_coding_exon_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000488442|retained_intron|5/8|n.1681G>A|||||| 22 42523896 . C T . . ANN=T|synonymous_variant|LOW|CYP2D6|ENSG00000100197|transcript|ENST00000360608|protein_coding|6/9|c.933G>A|p.Ser311Ser|1048/1684|933/1494|311/497||,T|synonymous_variant|LOW|CYP2D6|ENSG00000100197|transcript|ENST00000389970|protein_coding|7/10|c.933G>A|p.Ser311Ser|1023/1657|933/1494|311/497||,T|synonymous_variant|LOW|CYP2D6|ENSG00000100197|transcript|ENST00000359033|protein_coding|5/8|c.780G>A|p.Ser260Ser|854/1433|780/1341|260/446||,T|3_prime_UTR_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000360124|nonsense_mediated_decay|4/7|n.*8G>A|||||8|,T|upstream_gene_variant|MODIFIER|RP4-669P10.19|ENSG00000227370|transcript|ENST00000417586|processed_pseudogene||n.-1C>T|||||4654|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608288|antisense||n.-1C>T|||||4137|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608491|antisense||n.-1C>T|||||4137|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.*1521C>T|||||2542|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.*774C>T|||||2932|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000595777|antisense||n.*833C>T|||||2932|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000600968|antisense||n.*662C>T|||||2932|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000434834|antisense||n.*568C>T|||||2889|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000610250|antisense||n.*389C>T|||||2992|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000547929|retained_intron||n.*708C>T|||||2992|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609499|retained_intron||n.*364C>T|||||2992|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609833|retained_intron||n.*286C>T|||||2992|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608643|retained_intron||n.*877C>T|||||3007|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000451451|antisense||n.*594C>T|||||2863|,T|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense|5/6|n.1718+2484C>T||||||,T|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense|3/3|n.1046+3329C>T||||||,T|non_coding_exon_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000360124|nonsense_mediated_decay|4/7|n.*8G>A||||||,T|non_coding_exon_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000488442|retained_intron|5/8|n.1657G>A|||||| 22 42524033 . A T . . ANN=T|upstream_gene_variant|MODIFIER|RP4-669P10.19|ENSG00000227370|transcript|ENST00000417586|processed_pseudogene||n.-1A>T|||||4517|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608288|antisense||n.-1A>T|||||4000|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608491|antisense||n.-1A>T|||||4000|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.*1521A>T|||||2679|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.*774A>T|||||3069|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000595777|antisense||n.*833A>T|||||3069|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000600968|antisense||n.*662A>T|||||3069|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000434834|antisense||n.*568A>T|||||3026|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000610250|antisense||n.*389A>T|||||3129|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000547929|retained_intron||n.*708A>T|||||3129|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609499|retained_intron||n.*364A>T|||||3129|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609833|retained_intron||n.*286A>T|||||3129|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608643|retained_intron||n.*877A>T|||||3144|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000451451|antisense||n.*594A>T|||||3000|,T|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense|5/6|n.1718+2621A>T||||||,T|intron_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000360608|protein_coding|5/8|c.844-48T>A||||||,T|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense|3/3|n.1046+3466A>T||||||,T|intron_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000360124|nonsense_mediated_decay|3/6|n.511-97T>A||||||,T|intron_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000389970|protein_coding|6/9|c.844-48T>A||||||,T|intron_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000488442|retained_intron|4/7|n.1568-48T>A||||||,T|intron_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000359033|protein_coding|4/7|c.691-48T>A|||||| 22 42524130 . C T . . ANN=T|upstream_gene_variant|MODIFIER|RP4-669P10.19|ENSG00000227370|transcript|ENST00000417586|processed_pseudogene||n.-1C>T|||||4420|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608288|antisense||n.-1C>T|||||3903|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608491|antisense||n.-1C>T|||||3903|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.*1521C>T|||||2776|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.*774C>T|||||3166|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000595777|antisense||n.*833C>T|||||3166|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000600968|antisense||n.*662C>T|||||3166|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000434834|antisense||n.*568C>T|||||3123|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000610250|antisense||n.*389C>T|||||3226|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000547929|retained_intron||n.*708C>T|||||3226|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609499|retained_intron||n.*364C>T|||||3226|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609833|retained_intron||n.*286C>T|||||3226|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608643|retained_intron||n.*877C>T|||||3241|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000451451|antisense||n.*594C>T|||||3097|,T|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense|5/6|n.1718+2718C>T||||||,T|intron_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000360608|protein_coding|5/8|c.843+46G>A||||||,T|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense|3/3|n.1046+3563C>T||||||,T|intron_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000360124|nonsense_mediated_decay|3/6|n.510+46G>A||||||,T|intron_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000389970|protein_coding|6/9|c.843+46G>A||||||,T|intron_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000488442|retained_intron|4/7|n.1567+46G>A||||||,T|intron_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000359033|protein_coding|4/7|c.690+46G>A|||||| 22 42524175 . CCTT C . . ANN=|inframe_deletion&splice_region_variant|MODERATE|CYP2D6|ENSG00000100197|transcript|ENST00000360608|protein_coding|5/9|c.841_843delAAG|p.Lys281del|958/1684|841/1494|281/497||,|inframe_deletion&splice_region_variant|MODERATE|CYP2D6|ENSG00000100197|transcript|ENST00000389970|protein_coding|6/10|c.841_843delAAG|p.Lys281del|933/1657|841/1494|281/497||,|inframe_deletion&splice_region_variant|MODERATE|CYP2D6|ENSG00000100197|transcript|ENST00000359033|protein_coding|4/8|c.688_690delAAG|p.Lys230del|764/1433|688/1341|230/446||,|splice_region_variant&non_coding_exon_variant|LOW|CYP2D6|ENSG00000100197|transcript|ENST00000360124|nonsense_mediated_decay|3/7|n.508_510delAAG||||||,|splice_region_variant&non_coding_exon_variant|LOW|CYP2D6|ENSG00000100197|transcript|ENST00000488442|retained_intron|4/8|n.1565_1567delAAG||||||,|upstream_gene_variant|MODIFIER|RP4-669P10.19|ENSG00000227370|transcript|ENST00000417586|processed_pseudogene||n.-1_-1delCTT|||||4374|,|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608288|antisense||n.-1_-1delCTT|||||3857|,|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608491|antisense||n.-1_-1delCTT|||||3857|,|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.*1521_*1521delCTT|||||2822|,|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.*774_*774delCTT|||||3212|,|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000595777|antisense||n.*833_*833delCTT|||||3212|,|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000600968|antisense||n.*662_*662delCTT|||||3212|,|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000434834|antisense||n.*568_*568delCTT|||||3169|,|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000610250|antisense||n.*389_*389delCTT|||||3272|,|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000547929|retained_intron||n.*708_*708delCTT|||||3272|,|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609499|retained_intron||n.*364_*364delCTT|||||3272|,|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609833|retained_intron||n.*286_*286delCTT|||||3272|,|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608643|retained_intron||n.*877_*877delCTT|||||3287|,|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000451451|antisense||n.*594_*594delCTT|||||3143|,|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense|5/6|n.1718+2766_1718+2768delTCT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense|3/3|n.1046+3611_1046+3613delTCT||||||INFO_REALIGN_3_PRIME 22 42524191 . C A . . ANN=A|synonymous_variant|LOW|CYP2D6|ENSG00000100197|transcript|ENST00000360608|protein_coding|5/9|c.828G>T|p.Leu276Leu|943/1684|828/1494|276/497||,A|synonymous_variant|LOW|CYP2D6|ENSG00000100197|transcript|ENST00000389970|protein_coding|6/10|c.828G>T|p.Leu276Leu|918/1657|828/1494|276/497||,A|synonymous_variant|LOW|CYP2D6|ENSG00000100197|transcript|ENST00000359033|protein_coding|4/8|c.675G>T|p.Leu225Leu|749/1433|675/1341|225/446||,A|upstream_gene_variant|MODIFIER|RP4-669P10.19|ENSG00000227370|transcript|ENST00000417586|processed_pseudogene||n.-1C>A|||||4359|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608288|antisense||n.-1C>A|||||3842|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608491|antisense||n.-1C>A|||||3842|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.*1521C>A|||||2837|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.*774C>A|||||3227|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000595777|antisense||n.*833C>A|||||3227|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000600968|antisense||n.*662C>A|||||3227|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000434834|antisense||n.*568C>A|||||3184|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000610250|antisense||n.*389C>A|||||3287|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000547929|retained_intron||n.*708C>A|||||3287|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609499|retained_intron||n.*364C>A|||||3287|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609833|retained_intron||n.*286C>A|||||3287|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608643|retained_intron||n.*877C>A|||||3302|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000451451|antisense||n.*594C>A|||||3158|,A|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense|5/6|n.1718+2779C>A||||||,A|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense|3/3|n.1046+3624C>A||||||,A|non_coding_exon_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000360124|nonsense_mediated_decay|3/7|n.495G>T||||||,A|non_coding_exon_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000488442|retained_intron|4/8|n.1552G>T|||||| 22 42524213 . C CG . . ANN=G|frameshift_variant|HIGH|CYP2D6|ENSG00000100197|transcript|ENST00000360608|protein_coding|5/9|c.805dupC|p.Arg269fs|920/1684|805/1494|269/497||,G|frameshift_variant|HIGH|CYP2D6|ENSG00000100197|transcript|ENST00000389970|protein_coding|6/10|c.805dupC|p.Arg269fs|895/1657|805/1494|269/497||,G|frameshift_variant|HIGH|CYP2D6|ENSG00000100197|transcript|ENST00000359033|protein_coding|4/8|c.652dupC|p.Arg218fs|726/1433|652/1341|218/446||,G|upstream_gene_variant|MODIFIER|RP4-669P10.19|ENSG00000227370|transcript|ENST00000417586|processed_pseudogene||n.-1_-1insG|||||4336|,G|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608288|antisense||n.-1_-1insG|||||3819|,G|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608491|antisense||n.-1_-1insG|||||3819|,G|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.*1521_*1521insG|||||2860|,G|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.*774_*774insG|||||3250|,G|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000595777|antisense||n.*833_*833insG|||||3250|,G|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000600968|antisense||n.*662_*662insG|||||3250|,G|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000434834|antisense||n.*568_*568insG|||||3207|,G|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000610250|antisense||n.*389_*389insG|||||3310|,G|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000547929|retained_intron||n.*708_*708insG|||||3310|,G|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609499|retained_intron||n.*364_*364insG|||||3310|,G|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609833|retained_intron||n.*286_*286insG|||||3310|,G|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608643|retained_intron||n.*877_*877insG|||||3325|,G|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000451451|antisense||n.*594_*594insG|||||3181|,G|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense|5/6|n.1718+2808dupG||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense|3/3|n.1046+3653dupG||||||INFO_REALIGN_3_PRIME,G|non_coding_exon_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000360124|nonsense_mediated_decay|3/7|n.472dupC||||||,G|non_coding_exon_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000488442|retained_intron|4/8|n.1529dupC||||||;LOF=(CYP2D6|ENSG00000100197|5|0.60) 22 42524243 . CT C . . ANN=|frameshift_variant|HIGH|CYP2D6|ENSG00000100197|transcript|ENST00000360608|protein_coding|5/9|c.775delA|p.Arg259fs|890/1684|775/1494|259/497||,|frameshift_variant|HIGH|CYP2D6|ENSG00000100197|transcript|ENST00000389970|protein_coding|6/10|c.775delA|p.Arg259fs|865/1657|775/1494|259/497||,|frameshift_variant|HIGH|CYP2D6|ENSG00000100197|transcript|ENST00000359033|protein_coding|4/8|c.622delA|p.Arg208fs|696/1433|622/1341|208/446||,|upstream_gene_variant|MODIFIER|RP4-669P10.19|ENSG00000227370|transcript|ENST00000417586|processed_pseudogene||n.-1delT|||||4306|,|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608288|antisense||n.-1delT|||||3789|,|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608491|antisense||n.-1delT|||||3789|,|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.*1521delT|||||2890|,|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.*774delT|||||3280|,|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000595777|antisense||n.*833delT|||||3280|,|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000600968|antisense||n.*662delT|||||3280|,|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000434834|antisense||n.*568delT|||||3237|,|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000610250|antisense||n.*389delT|||||3340|,|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000547929|retained_intron||n.*708delT|||||3340|,|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609499|retained_intron||n.*364delT|||||3340|,|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609833|retained_intron||n.*286delT|||||3340|,|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608643|retained_intron||n.*877delT|||||3355|,|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000451451|antisense||n.*594delT|||||3211|,|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense|5/6|n.1718+2832delT||||||,|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense|3/3|n.1046+3677delT||||||,|non_coding_exon_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000360124|nonsense_mediated_decay|3/7|n.442delA||||||,|non_coding_exon_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000488442|retained_intron|4/8|n.1499delA||||||;LOF=(CYP2D6|ENSG00000100197|5|0.60) 22 42524322 . T G . . ANN=G|missense_variant|MODERATE|CYP2D6|ENSG00000100197|transcript|ENST00000360608|protein_coding|5/9|c.697A>C|p.Ile233Leu|812/1684|697/1494|233/497||,G|missense_variant|MODERATE|CYP2D6|ENSG00000100197|transcript|ENST00000389970|protein_coding|6/10|c.697A>C|p.Ile233Leu|787/1657|697/1494|233/497||,G|missense_variant|MODERATE|CYP2D6|ENSG00000100197|transcript|ENST00000359033|protein_coding|4/8|c.544A>C|p.Ile182Leu|618/1433|544/1341|182/446||,G|upstream_gene_variant|MODIFIER|RP4-669P10.19|ENSG00000227370|transcript|ENST00000417586|processed_pseudogene||n.-1T>G|||||4228|,G|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608288|antisense||n.-1T>G|||||3711|,G|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608491|antisense||n.-1T>G|||||3711|,G|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.*1521T>G|||||2968|,G|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.*774T>G|||||3358|,G|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000595777|antisense||n.*833T>G|||||3358|,G|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000600968|antisense||n.*662T>G|||||3358|,G|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000434834|antisense||n.*568T>G|||||3315|,G|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000610250|antisense||n.*389T>G|||||3418|,G|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000547929|retained_intron||n.*708T>G|||||3418|,G|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609499|retained_intron||n.*364T>G|||||3418|,G|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609833|retained_intron||n.*286T>G|||||3418|,G|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608643|retained_intron||n.*877T>G|||||3433|,G|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000451451|antisense||n.*594T>G|||||3289|,G|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense|5/6|n.1718+2910T>G||||||,G|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense|3/3|n.1046+3755T>G||||||,G|non_coding_exon_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000360124|nonsense_mediated_decay|3/7|n.364A>C||||||,G|non_coding_exon_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000488442|retained_intron|4/8|n.1421A>C|||||| 22 42524820 . T TC . . ANN=C|frameshift_variant|HIGH|CYP2D6|ENSG00000100197|transcript|ENST00000360608|protein_coding|4/9|c.631dupG|p.Glu211fs|746/1684|631/1494|211/497||,C|frameshift_variant|HIGH|CYP2D6|ENSG00000100197|transcript|ENST00000389970|protein_coding|5/10|c.631dupG|p.Glu211fs|721/1657|631/1494|211/497||,C|frameshift_variant|HIGH|CYP2D6|ENSG00000100197|transcript|ENST00000359033|protein_coding|3/8|c.478dupG|p.Glu160fs|552/1433|478/1341|160/446||,C|upstream_gene_variant|MODIFIER|RP4-669P10.19|ENSG00000227370|transcript|ENST00000417586|processed_pseudogene||n.-1_-1insC|||||3729|,C|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608288|antisense||n.-1_-1insC|||||3212|,C|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608491|antisense||n.-1_-1insC|||||3212|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.*1521_*1521insC|||||3467|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.*774_*774insC|||||3857|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000595777|antisense||n.*833_*833insC|||||3857|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000600968|antisense||n.*662_*662insC|||||3857|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000434834|antisense||n.*568_*568insC|||||3814|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000610250|antisense||n.*389_*389insC|||||3917|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000547929|retained_intron||n.*708_*708insC|||||3917|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609499|retained_intron||n.*364_*364insC|||||3917|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609833|retained_intron||n.*286_*286insC|||||3917|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608643|retained_intron||n.*877_*877insC|||||3932|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000451451|antisense||n.*594_*594insC|||||3788|,C|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense|5/6|n.1718+3410dupC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense|3/3|n.1046+4255dupC||||||INFO_REALIGN_3_PRIME,C|non_coding_exon_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000360124|nonsense_mediated_decay|2/7|n.298dupG||||||,C|non_coding_exon_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000488442|retained_intron|3/8|n.1355dupG||||||;LOF=(CYP2D6|ENSG00000100197|5|0.60) 22 42525046 . G A . . ANN=A|missense_variant|MODERATE|CYP2D6|ENSG00000100197|transcript|ENST00000360608|protein_coding|3/9|c.494C>T|p.Ala165Val|609/1684|494/1494|165/497||,A|missense_variant|MODERATE|CYP2D6|ENSG00000100197|transcript|ENST00000389970|protein_coding|4/10|c.494C>T|p.Ala165Val|584/1657|494/1494|165/497||,A|upstream_gene_variant|MODIFIER|RP4-669P10.19|ENSG00000227370|transcript|ENST00000417586|processed_pseudogene||n.-1G>A|||||3504|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608288|antisense||n.-1G>A|||||2987|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608491|antisense||n.-1G>A|||||2987|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.*1521G>A|||||3692|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.*774G>A|||||4082|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000595777|antisense||n.*833G>A|||||4082|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000600968|antisense||n.*662G>A|||||4082|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000434834|antisense||n.*568G>A|||||4039|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000610250|antisense||n.*389G>A|||||4142|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000547929|retained_intron||n.*708G>A|||||4142|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609499|retained_intron||n.*364G>A|||||4142|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609833|retained_intron||n.*286G>A|||||4142|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608643|retained_intron||n.*877G>A|||||4157|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000451451|antisense||n.*594G>A|||||4013|,A|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense|5/6|n.1718+3634G>A||||||,A|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense|3/3|n.1046+4479G>A||||||,A|intron_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000360124|nonsense_mediated_decay|1/6|n.173-100C>T||||||,A|intron_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000359033|protein_coding|2/7|c.353-100C>T||||||,A|non_coding_exon_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000488442|retained_intron|2/8|n.1218C>T|||||| 22 42525085 . CA C . . ANN=|frameshift_variant|HIGH|CYP2D6|ENSG00000100197|transcript|ENST00000360608|protein_coding|3/9|c.454delT|p.Trp152fs|569/1684|454/1494|152/497||,|frameshift_variant|HIGH|CYP2D6|ENSG00000100197|transcript|ENST00000389970|protein_coding|4/10|c.454delT|p.Trp152fs|544/1657|454/1494|152/497||,|upstream_gene_variant|MODIFIER|RP4-669P10.19|ENSG00000227370|transcript|ENST00000417586|processed_pseudogene||n.-1delA|||||3464|,|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608288|antisense||n.-1delA|||||2947|,|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608491|antisense||n.-1delA|||||2947|,|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.*1521delA|||||3732|,|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.*774delA|||||4122|,|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000595777|antisense||n.*833delA|||||4122|,|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000600968|antisense||n.*662delA|||||4122|,|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000434834|antisense||n.*568delA|||||4079|,|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000610250|antisense||n.*389delA|||||4182|,|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000547929|retained_intron||n.*708delA|||||4182|,|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609499|retained_intron||n.*364delA|||||4182|,|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609833|retained_intron||n.*286delA|||||4182|,|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608643|retained_intron||n.*877delA|||||4197|,|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000451451|antisense||n.*594delA|||||4053|,|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense|5/6|n.1718+3674delA||||||,|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense|3/3|n.1046+4519delA||||||,|intron_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000360124|nonsense_mediated_decay|1/6|n.173-140delT||||||,|intron_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000359033|protein_coding|2/7|c.353-140delT||||||,|non_coding_exon_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000488442|retained_intron|2/8|n.1178delT||||||;LOF=(CYP2D6|ENSG00000100197|5|0.40) 22 42525134 . C T . . ANN=T|missense_variant|MODERATE|CYP2D6|ENSG00000100197|transcript|ENST00000360608|protein_coding|3/9|c.406G>A|p.Val136Ile|521/1684|406/1494|136/497||,T|missense_variant|MODERATE|CYP2D6|ENSG00000100197|transcript|ENST00000389970|protein_coding|4/10|c.406G>A|p.Val136Ile|496/1657|406/1494|136/497||,T|upstream_gene_variant|MODIFIER|RP4-669P10.19|ENSG00000227370|transcript|ENST00000417586|processed_pseudogene||n.-1C>T|||||3416|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608288|antisense||n.-1C>T|||||2899|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608491|antisense||n.-1C>T|||||2899|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.*1521C>T|||||3780|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.*774C>T|||||4170|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000595777|antisense||n.*833C>T|||||4170|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000600968|antisense||n.*662C>T|||||4170|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000434834|antisense||n.*568C>T|||||4127|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000610250|antisense||n.*389C>T|||||4230|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000547929|retained_intron||n.*708C>T|||||4230|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609499|retained_intron||n.*364C>T|||||4230|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609833|retained_intron||n.*286C>T|||||4230|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608643|retained_intron||n.*877C>T|||||4245|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000451451|antisense||n.*594C>T|||||4101|,T|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense|5/6|n.1718+3722C>T||||||,T|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense|3/3|n.1046+4567C>T||||||,T|intron_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000360124|nonsense_mediated_decay|1/6|n.173-188G>A||||||,T|intron_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000359033|protein_coding|2/7|c.353-188G>A||||||,T|non_coding_exon_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000488442|retained_intron|2/8|n.1130G>A|||||| 22 42525728 . A C . . ANN=C|upstream_gene_variant|MODIFIER|RP4-669P10.19|ENSG00000227370|transcript|ENST00000417586|processed_pseudogene||n.-1A>C|||||2822|,C|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608288|antisense||n.-1A>C|||||2305|,C|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608491|antisense||n.-1A>C|||||2305|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.*1521A>C|||||4374|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.*774A>C|||||4764|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000595777|antisense||n.*833A>C|||||4764|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000600968|antisense||n.*662A>C|||||4764|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000434834|antisense||n.*568A>C|||||4721|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000610250|antisense||n.*389A>C|||||4824|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000547929|retained_intron||n.*708A>C|||||4824|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609499|retained_intron||n.*364A>C|||||4824|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609833|retained_intron||n.*286A>C|||||4824|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608643|retained_intron||n.*877A>C|||||4839|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000451451|antisense||n.*594A>C|||||4695|,C|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense|5/6|n.1718+4316A>C||||||,C|intron_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000360608|protein_coding|2/8|c.352+12T>G||||||,C|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense|3/3|n.1046+5161A>C||||||,C|intron_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000360124|nonsense_mediated_decay|1/6|n.172+12T>G||||||,C|intron_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000389970|protein_coding|2/9|c.343+21T>G||||||,C|intron_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000488442|retained_intron|1/7|n.1076+12T>G||||||,C|intron_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000359033|protein_coding|2/7|c.352+12T>G|||||| 22 42525756 . G A . . ANN=A|synonymous_variant|LOW|CYP2D6|ENSG00000100197|transcript|ENST00000360608|protein_coding|2/9|c.336C>T|p.Phe112Phe|451/1684|336/1494|112/497||,A|synonymous_variant|LOW|CYP2D6|ENSG00000100197|transcript|ENST00000389970|protein_coding|2/10|c.336C>T|p.Phe112Phe|426/1657|336/1494|112/497||,A|synonymous_variant|LOW|CYP2D6|ENSG00000100197|transcript|ENST00000359033|protein_coding|2/8|c.336C>T|p.Phe112Phe|410/1433|336/1341|112/446||,A|upstream_gene_variant|MODIFIER|RP4-669P10.19|ENSG00000227370|transcript|ENST00000417586|processed_pseudogene||n.-1G>A|||||2794|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608288|antisense||n.-1G>A|||||2277|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608491|antisense||n.-1G>A|||||2277|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.*1521G>A|||||4402|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.*774G>A|||||4792|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000595777|antisense||n.*833G>A|||||4792|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000600968|antisense||n.*662G>A|||||4792|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000434834|antisense||n.*568G>A|||||4749|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000610250|antisense||n.*389G>A|||||4852|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000547929|retained_intron||n.*708G>A|||||4852|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609499|retained_intron||n.*364G>A|||||4852|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609833|retained_intron||n.*286G>A|||||4852|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608643|retained_intron||n.*877G>A|||||4867|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000451451|antisense||n.*594G>A|||||4723|,A|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense|5/6|n.1718+4344G>A||||||,A|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense|3/3|n.1046+5189G>A||||||,A|non_coding_exon_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000360124|nonsense_mediated_decay|1/7|n.156C>T||||||,A|non_coding_exon_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000488442|retained_intron|1/8|n.1060C>T|||||| 22 42525772 . G A . . ANN=A|missense_variant|MODERATE|CYP2D6|ENSG00000100197|transcript|ENST00000360608|protein_coding|2/9|c.320C>T|p.Thr107Ile|435/1684|320/1494|107/497||,A|missense_variant|MODERATE|CYP2D6|ENSG00000100197|transcript|ENST00000389970|protein_coding|2/10|c.320C>T|p.Thr107Ile|410/1657|320/1494|107/497||,A|missense_variant|MODERATE|CYP2D6|ENSG00000100197|transcript|ENST00000359033|protein_coding|2/8|c.320C>T|p.Thr107Ile|394/1433|320/1341|107/446||,A|upstream_gene_variant|MODIFIER|RP4-669P10.19|ENSG00000227370|transcript|ENST00000417586|processed_pseudogene||n.-1G>A|||||2778|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608288|antisense||n.-1G>A|||||2261|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608491|antisense||n.-1G>A|||||2261|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.*1521G>A|||||4418|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.*774G>A|||||4808|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000595777|antisense||n.*833G>A|||||4808|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000600968|antisense||n.*662G>A|||||4808|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000434834|antisense||n.*568G>A|||||4765|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000610250|antisense||n.*389G>A|||||4868|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000547929|retained_intron||n.*708G>A|||||4868|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609499|retained_intron||n.*364G>A|||||4868|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609833|retained_intron||n.*286G>A|||||4868|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608643|retained_intron||n.*877G>A|||||4883|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000451451|antisense||n.*594G>A|||||4739|,A|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense|5/6|n.1718+4360G>A||||||,A|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense|3/3|n.1046+5205G>A||||||,A|non_coding_exon_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000360124|nonsense_mediated_decay|1/7|n.140C>T||||||,A|non_coding_exon_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000488442|retained_intron|1/8|n.1044C>T|||||| 22 42525801 . G C . . ANN=C|missense_variant|MODERATE|CYP2D6|ENSG00000100197|transcript|ENST00000360608|protein_coding|2/9|c.291C>G|p.Asp97Glu|406/1684|291/1494|97/497||,C|missense_variant|MODERATE|CYP2D6|ENSG00000100197|transcript|ENST00000389970|protein_coding|2/10|c.291C>G|p.Asp97Glu|381/1657|291/1494|97/497||,C|missense_variant|MODERATE|CYP2D6|ENSG00000100197|transcript|ENST00000359033|protein_coding|2/8|c.291C>G|p.Asp97Glu|365/1433|291/1341|97/446||,C|upstream_gene_variant|MODIFIER|RP4-669P10.19|ENSG00000227370|transcript|ENST00000417586|processed_pseudogene||n.-1G>C|||||2749|,C|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608288|antisense||n.-1G>C|||||2232|,C|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608491|antisense||n.-1G>C|||||2232|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.*1521G>C|||||4447|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.*774G>C|||||4837|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000595777|antisense||n.*833G>C|||||4837|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000600968|antisense||n.*662G>C|||||4837|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000434834|antisense||n.*568G>C|||||4794|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000610250|antisense||n.*389G>C|||||4897|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000547929|retained_intron||n.*708G>C|||||4897|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609499|retained_intron||n.*364G>C|||||4897|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609833|retained_intron||n.*286G>C|||||4897|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608643|retained_intron||n.*877G>C|||||4912|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000451451|antisense||n.*594G>C|||||4768|,C|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense|5/6|n.1718+4389G>C||||||,C|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense|3/3|n.1046+5234G>C||||||,C|non_coding_exon_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000360124|nonsense_mediated_decay|1/7|n.111C>G||||||,C|non_coding_exon_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000488442|retained_intron|1/8|n.1015C>G|||||| 22 42526763 . C T . . ANN=T|missense_variant|MODERATE|CYP2D6|ENSG00000100197|transcript|ENST00000360608|protein_coding|1/9|c.31G>A|p.Val11Met|146/1684|31/1494|11/497||,T|missense_variant|MODERATE|CYP2D6|ENSG00000100197|transcript|ENST00000389970|protein_coding|1/10|c.31G>A|p.Val11Met|121/1657|31/1494|11/497||,T|missense_variant|MODERATE|CYP2D6|ENSG00000100197|transcript|ENST00000359033|protein_coding|1/8|c.31G>A|p.Val11Met|105/1433|31/1341|11/446||,T|upstream_gene_variant|MODIFIER|RP4-669P10.19|ENSG00000227370|transcript|ENST00000417586|processed_pseudogene||n.-1C>T|||||1787|,T|upstream_gene_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000360124|nonsense_mediated_decay||n.-1G>A|||||852|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608288|antisense||n.-1C>T|||||1270|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608491|antisense||n.-1C>T|||||1270|,T|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense|5/6|n.1718+5351C>T||||||,T|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense|3/3|n.1046+6196C>T||||||,T|non_coding_exon_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000488442|retained_intron|1/8|n.53G>A|||||| 22 42526778 . G A . . ANN=A|synonymous_variant|LOW|CYP2D6|ENSG00000100197|transcript|ENST00000360608|protein_coding|1/9|c.16C>T|p.Leu6Leu|131/1684|16/1494|6/497||,A|synonymous_variant|LOW|CYP2D6|ENSG00000100197|transcript|ENST00000389970|protein_coding|1/10|c.16C>T|p.Leu6Leu|106/1657|16/1494|6/497||,A|synonymous_variant|LOW|CYP2D6|ENSG00000100197|transcript|ENST00000359033|protein_coding|1/8|c.16C>T|p.Leu6Leu|90/1433|16/1341|6/446||,A|upstream_gene_variant|MODIFIER|RP4-669P10.19|ENSG00000227370|transcript|ENST00000417586|processed_pseudogene||n.-1G>A|||||1772|,A|upstream_gene_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000360124|nonsense_mediated_decay||n.-1C>T|||||867|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608288|antisense||n.-1G>A|||||1255|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608491|antisense||n.-1G>A|||||1255|,A|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense|5/6|n.1718+5366G>A||||||,A|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense|3/3|n.1046+6211G>A||||||,A|non_coding_exon_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000488442|retained_intron|1/8|n.38C>T|||||| 22 42526836 . A AC . . ANN=C|5_prime_UTR_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000360608|protein_coding|1/9|c.-44dupG|||||44|,C|5_prime_UTR_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000389970|protein_coding|1/10|c.-44dupG|||||44|,C|5_prime_UTR_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000359033|protein_coding|1/8|c.-44dupG|||||44|,C|upstream_gene_variant|MODIFIER|RP4-669P10.19|ENSG00000227370|transcript|ENST00000417586|processed_pseudogene||n.-1_-1insC|||||1713|,C|upstream_gene_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000360124|nonsense_mediated_decay||n.-1dupG|||||926|,C|upstream_gene_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000488442|retained_intron||n.-1dupG|||||22|,C|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608288|antisense||n.-1_-1insC|||||1196|,C|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608491|antisense||n.-1_-1insC|||||1196|,C|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense|5/6|n.1719-5367dupC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense|3/3|n.1047-6195dupC||||||INFO_REALIGN_3_PRIME 22 42557344 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|5/5|c.*65A>G|||||7315|,C|3_prime_UTR_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|4/4|c.*3A>G|||||3|,C|3_prime_UTR_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding|5/5|c.*65A>G|||||7315| 22 42557356 . C T . . ANN=T|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|4/4|c.5808G>A|p.Leu1936Leu|5943/6237|5808/5817|1936/1938||,T|3_prime_UTR_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|5/5|c.*53G>A|||||7303|,T|3_prime_UTR_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding|5/5|c.*53G>A|||||7303| 22 42557363 . A G . . ANN=G|missense_variant&splice_region_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|4/4|c.5801T>C|p.Val1934Ala|5936/6237|5801/5817|1934/1938||,G|splice_region_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|5/5|c.*46T>C||||||,G|splice_region_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding|5/5|c.*46T>C||||||,G|3_prime_UTR_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|5/5|c.*46T>C|||||7296|,G|3_prime_UTR_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding|5/5|c.*46T>C|||||7296| 22 42557413 . C A . . ANN=A|intron_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|4/4|c.*45-49G>T||||||,A|intron_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|3/3|c.5800-49G>T||||||,A|intron_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding|4/4|c.*45-49G>T|||||| 22 42564698 . C T . . ANN=T|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|4/5|c.5844G>A|p.Ala1948Ala|5981/7410|5844/5883|1948/1960||,T|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding|4/5|c.714G>A|p.Ala238Ala|714/1058|714/753|238/250||,T|intron_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|3/3|c.5799+1155G>A|||||| 22 42564718 . G A,C,T . . ANN=A|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|4/5|c.5824C>T|p.Pro1942Ser|5961/7410|5824/5883|1942/1960||,C|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|4/5|c.5824C>G|p.Pro1942Ala|5961/7410|5824/5883|1942/1960||,T|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|4/5|c.5824C>A|p.Pro1942Thr|5961/7410|5824/5883|1942/1960||,A|intron_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|3/3|c.5799+1135C>T||||||,C|intron_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|3/3|c.5799+1135C>G||||||,T|intron_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|3/3|c.5799+1135C>A||||||,A|intron_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding|3/4|c.703-9C>T||||||,C|intron_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding|3/4|c.703-9C>G||||||,T|intron_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding|3/4|c.703-9C>A|||||| 22 42564732 . G A . . ANN=A|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|4/5|c.5810C>T|p.Pro1937Leu|5947/7410|5810/5883|1937/1960||,A|intron_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|3/3|c.5799+1121C>T||||||,A|intron_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding|3/4|c.703-23C>T|||||| 22 42564750 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|3/4|c.5800-8C>T||||||,A|sequence_feature|LOW|TCF20|ENSG00000100207|zinc_finger_region:PHD-type|ENST00000359486|protein_coding|4/5|c.5800-8C>T||||||,A|sequence_feature|LOW|TCF20|ENSG00000100207|zinc_finger_region:PHD-type|ENST00000359486|protein_coding|3/5|c.5800-8C>T||||||,A|sequence_feature|LOW|TCF20|ENSG00000100207|zinc_finger_region:PHD-type|ENST00000359486|protein_coding|2/5|c.5800-8C>T||||||,A|sequence_feature|LOW|TCF20|ENSG00000100207|zinc_finger_region:PHD-type|ENST00000359486|protein_coding|1/5|c.5800-8C>T||||||,A|intron_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|3/3|c.5799+1103C>T||||||,A|intron_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding|3/4|c.703-41C>T|||||| 22 42565835 . T C . . ANN=C|sequence_feature|LOW|TCF20|ENSG00000100207|zinc_finger_region:PHD-type|ENST00000359486|protein_coding|4/5|c.5799+18A>G||||||,C|sequence_feature|LOW|TCF20|ENSG00000100207|zinc_finger_region:PHD-type|ENST00000359486|protein_coding|3/5|c.5799+18A>G||||||,C|sequence_feature|LOW|TCF20|ENSG00000100207|zinc_finger_region:PHD-type|ENST00000359486|protein_coding|2/5|c.5799+18A>G||||||,C|sequence_feature|LOW|TCF20|ENSG00000100207|zinc_finger_region:PHD-type|ENST00000359486|protein_coding|1/5|c.5799+18A>G||||||,C|intron_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|3/4|c.5799+18A>G||||||,C|intron_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|3/3|c.5799+18A>G||||||,C|intron_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding|3/4|c.702+18A>G|||||| 22 42565950 . T C . . ANN=C|sequence_feature|LOW|TCF20|ENSG00000100207|zinc_finger_region:PHD-type|ENST00000359486|protein_coding|4/5|c.5750-48A>G||||||,C|sequence_feature|LOW|TCF20|ENSG00000100207|zinc_finger_region:PHD-type|ENST00000359486|protein_coding|3/5|c.5750-48A>G||||||,C|sequence_feature|LOW|TCF20|ENSG00000100207|zinc_finger_region:PHD-type|ENST00000359486|protein_coding|2/5|c.5750-48A>G||||||,C|sequence_feature|LOW|TCF20|ENSG00000100207|zinc_finger_region:PHD-type|ENST00000359486|protein_coding|1/5|c.5750-48A>G||||||,C|intron_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|2/4|c.5750-48A>G||||||,C|intron_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|2/3|c.5750-48A>G||||||,C|intron_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding|2/4|c.653-48A>G|||||| 22 42575632 . G A . . ANN=A|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|2/5|c.5732C>T|p.Pro1911Leu|5869/7410|5732/5883|1911/1960||,A|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|2/4|c.5732C>T|p.Pro1911Leu|5867/6237|5732/5817|1911/1938||,A|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding|2/5|c.635C>T|p.Pro212Leu|635/1058|635/753|212/250||,A|sequence_feature|LOW|TCF20|ENSG00000100207|zinc_finger_region:PHD-type|ENST00000359486|protein_coding|4/5|c.5732C>T||||||,A|sequence_feature|LOW|TCF20|ENSG00000100207|zinc_finger_region:PHD-type|ENST00000359486|protein_coding|3/5|c.5732C>T||||||,A|sequence_feature|LOW|TCF20|ENSG00000100207|zinc_finger_region:PHD-type|ENST00000359486|protein_coding|2/5|c.5732C>T||||||,A|sequence_feature|LOW|TCF20|ENSG00000100207|zinc_finger_region:PHD-type|ENST00000359486|protein_coding|1/5|c.5732C>T|||||| 22 42575687 . C T . . ANN=T|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|2/5|c.5677G>A|p.Ala1893Thr|5814/7410|5677/5883|1893/1960||,T|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|2/4|c.5677G>A|p.Ala1893Thr|5812/6237|5677/5817|1893/1938||,T|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding|2/5|c.580G>A|p.Ala194Thr|580/1058|580/753|194/250||,T|sequence_feature|LOW|TCF20|ENSG00000100207|zinc_finger_region:PHD-type|ENST00000359486|protein_coding|4/5|c.5677G>A||||||,T|sequence_feature|LOW|TCF20|ENSG00000100207|zinc_finger_region:PHD-type|ENST00000359486|protein_coding|3/5|c.5677G>A||||||,T|sequence_feature|LOW|TCF20|ENSG00000100207|zinc_finger_region:PHD-type|ENST00000359486|protein_coding|2/5|c.5677G>A||||||,T|sequence_feature|LOW|TCF20|ENSG00000100207|zinc_finger_region:PHD-type|ENST00000359486|protein_coding|1/5|c.5677G>A|||||| 22 42575719 . G A . . ANN=A|sequence_feature|LOW|TCF20|ENSG00000100207|zinc_finger_region:PHD-type|ENST00000359486|protein_coding|4/5|c.5656-11C>T||||||,A|sequence_feature|LOW|TCF20|ENSG00000100207|zinc_finger_region:PHD-type|ENST00000359486|protein_coding|3/5|c.5656-11C>T||||||,A|sequence_feature|LOW|TCF20|ENSG00000100207|zinc_finger_region:PHD-type|ENST00000359486|protein_coding|2/5|c.5656-11C>T||||||,A|sequence_feature|LOW|TCF20|ENSG00000100207|zinc_finger_region:PHD-type|ENST00000359486|protein_coding|1/5|c.5656-11C>T||||||,A|intron_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/4|c.5656-11C>T||||||,A|intron_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/3|c.5656-11C>T||||||,A|intron_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding|1/4|c.559-11C>T|||||| 22 42605724 . T C . . ANN=C|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.5588A>G|p.Asn1863Ser|5725/7410|5588/5883|1863/1960||,C|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.5588A>G|p.Asn1863Ser|5723/6237|5588/5817|1863/1938||,C|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding|1/5|c.491A>G|p.Asn164Ser|491/1058|491/753|164/250|| 22 42605821 . T C . . ANN=C|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.5491A>G|p.Thr1831Ala|5628/7410|5491/5883|1831/1960||,C|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.5491A>G|p.Thr1831Ala|5626/6237|5491/5817|1831/1938||,C|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding|1/5|c.394A>G|p.Thr132Ala|394/1058|394/753|132/250|| 22 42605878 . C T . . ANN=T|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.5434G>A|p.Ala1812Thr|5571/7410|5434/5883|1812/1960||,T|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.5434G>A|p.Ala1812Thr|5569/6237|5434/5817|1812/1938||,T|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding|1/5|c.337G>A|p.Ala113Thr|337/1058|337/753|113/250||,T|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633G>A|||||4975|WARNING_TRANSCRIPT_NO_STOP_CODON 22 42606257 . C T . . ANN=T|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.5055G>A|p.Ser1685Ser|5192/7410|5055/5883|1685/1960||,T|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.5055G>A|p.Ser1685Ser|5190/6237|5055/5817|1685/1938||,T|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1G>A|||||43|,T|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633G>A|||||4596|WARNING_TRANSCRIPT_NO_STOP_CODON 22 42606263 . C T . . ANN=T|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.5049G>A|p.Pro1683Pro|5186/7410|5049/5883|1683/1960||,T|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.5049G>A|p.Pro1683Pro|5184/6237|5049/5817|1683/1938||,T|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1G>A|||||49|,T|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633G>A|||||4590|WARNING_TRANSCRIPT_NO_STOP_CODON 22 42606744 . G A . . ANN=A|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.4568C>T|p.Pro1523Leu|4705/7410|4568/5883|1523/1960||,A|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.4568C>T|p.Pro1523Leu|4703/6237|4568/5817|1523/1938||,A|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1C>T|||||530|,A|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633C>T|||||4109|WARNING_TRANSCRIPT_NO_STOP_CODON 22 42606818 . A G . . ANN=G|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.4494T>C|p.Pro1498Pro|4631/7410|4494/5883|1498/1960||,G|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.4494T>C|p.Pro1498Pro|4629/6237|4494/5817|1498/1938||,G|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1T>C|||||604|,G|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633T>C|||||4035|WARNING_TRANSCRIPT_NO_STOP_CODON 22 42606905 . T C . . ANN=C|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.4407A>G|p.Ser1469Ser|4544/7410|4407/5883|1469/1960||,C|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.4407A>G|p.Ser1469Ser|4542/6237|4407/5817|1469/1938||,C|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1A>G|||||691|,C|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633A>G|||||3948|WARNING_TRANSCRIPT_NO_STOP_CODON 22 42606992 . G A . . ANN=A|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.4320C>T|p.Ser1440Ser|4457/7410|4320/5883|1440/1960||,A|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.4320C>T|p.Ser1440Ser|4455/6237|4320/5817|1440/1938||,A|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1C>T|||||778|,A|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633C>T|||||3861|WARNING_TRANSCRIPT_NO_STOP_CODON 22 42607071 . G A . . ANN=A|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.4241C>T|p.Ser1414Leu|4378/7410|4241/5883|1414/1960||,A|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.4241C>T|p.Ser1414Leu|4376/6237|4241/5817|1414/1938||,A|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1C>T|||||857|,A|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633C>T|||||3782|WARNING_TRANSCRIPT_NO_STOP_CODON 22 42607085 . T C . . ANN=C|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.4227A>G|p.Lys1409Lys|4364/7410|4227/5883|1409/1960||,C|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.4227A>G|p.Lys1409Lys|4362/6237|4227/5817|1409/1938||,C|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1A>G|||||871|,C|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633A>G|||||3768|WARNING_TRANSCRIPT_NO_STOP_CODON 22 42607160 . A G . . ANN=G|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.4152T>C|p.Asp1384Asp|4289/7410|4152/5883|1384/1960||,G|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.4152T>C|p.Asp1384Asp|4287/6237|4152/5817|1384/1938||,G|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1T>C|||||946|,G|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633T>C|||||3693|WARNING_TRANSCRIPT_NO_STOP_CODON 22 42607194 . G A . . ANN=A|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.4118C>T|p.Ala1373Val|4255/7410|4118/5883|1373/1960||,A|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.4118C>T|p.Ala1373Val|4253/6237|4118/5817|1373/1938||,A|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1C>T|||||980|,A|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633C>T|||||3659|WARNING_TRANSCRIPT_NO_STOP_CODON 22 42607338 . C T . . ANN=T|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.3974G>A|p.Ser1325Asn|4111/7410|3974/5883|1325/1960||,T|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.3974G>A|p.Ser1325Asn|4109/6237|3974/5817|1325/1938||,T|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1G>A|||||1124|,T|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633G>A|||||3515|WARNING_TRANSCRIPT_NO_STOP_CODON 22 42607451 . T A . . ANN=A|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.3861A>T|p.Ser1287Ser|3998/7410|3861/5883|1287/1960||,A|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.3861A>T|p.Ser1287Ser|3996/6237|3861/5817|1287/1938||,A|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1A>T|||||1237|,A|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633A>T|||||3402|WARNING_TRANSCRIPT_NO_STOP_CODON 22 42607652 . T A . . ANN=A|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.3660A>T|p.Gly1220Gly|3797/7410|3660/5883|1220/1960||,A|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.3660A>T|p.Gly1220Gly|3795/6237|3660/5817|1220/1938||,A|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1A>T|||||1438|,A|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633A>T|||||3201|WARNING_TRANSCRIPT_NO_STOP_CODON 22 42607690 . T C . . ANN=C|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.3622A>G|p.Ser1208Gly|3759/7410|3622/5883|1208/1960||,C|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.3622A>G|p.Ser1208Gly|3757/6237|3622/5817|1208/1938||,C|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1A>G|||||1476|,C|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633A>G|||||3163|WARNING_TRANSCRIPT_NO_STOP_CODON 22 42607817 . C T . . ANN=T|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.3495G>A|p.Met1165Ile|3632/7410|3495/5883|1165/1960||,T|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.3495G>A|p.Met1165Ile|3630/6237|3495/5817|1165/1938||,T|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1G>A|||||1603|,T|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633G>A|||||3036|WARNING_TRANSCRIPT_NO_STOP_CODON 22 42607937 . C T . . ANN=T|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.3375G>A|p.Gln1125Gln|3512/7410|3375/5883|1125/1960||,T|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.3375G>A|p.Gln1125Gln|3510/6237|3375/5817|1125/1938||,T|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1G>A|||||1723|,T|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633G>A|||||2916|WARNING_TRANSCRIPT_NO_STOP_CODON 22 42607947 . C G . . ANN=G|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.3365G>C|p.Ser1122Thr|3502/7410|3365/5883|1122/1960||,G|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.3365G>C|p.Ser1122Thr|3500/6237|3365/5817|1122/1938||,G|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1G>C|||||1733|,G|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633G>C|||||2906|WARNING_TRANSCRIPT_NO_STOP_CODON 22 42608024 . C T . . ANN=T|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.3288G>A|p.Glu1096Glu|3425/7410|3288/5883|1096/1960||,T|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.3288G>A|p.Glu1096Glu|3423/6237|3288/5817|1096/1938||,T|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1G>A|||||1810|,T|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633G>A|||||2829|WARNING_TRANSCRIPT_NO_STOP_CODON 22 42608203 . T C . . ANN=C|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.3109A>G|p.Met1037Val|3246/7410|3109/5883|1037/1960||,C|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.3109A>G|p.Met1037Val|3244/6237|3109/5817|1037/1938||,C|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1A>G|||||1989|,C|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633A>G|||||2650|WARNING_TRANSCRIPT_NO_STOP_CODON 22 42608238 . C A . . ANN=A|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.3074G>T|p.Gly1025Val|3211/7410|3074/5883|1025/1960||,A|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.3074G>T|p.Gly1025Val|3209/6237|3074/5817|1025/1938||,A|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1G>T|||||2024|,A|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633G>T|||||2615|WARNING_TRANSCRIPT_NO_STOP_CODON 22 42608314 . C G . . ANN=G|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.2998G>C|p.Gly1000Arg|3135/7410|2998/5883|1000/1960||,G|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.2998G>C|p.Gly1000Arg|3133/6237|2998/5817|1000/1938||,G|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1G>C|||||2100|,G|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633G>C|||||2539|WARNING_TRANSCRIPT_NO_STOP_CODON 22 42608432 . A G . . ANN=G|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.2880T>C|p.Ser960Ser|3017/7410|2880/5883|960/1960||,G|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.2880T>C|p.Ser960Ser|3015/6237|2880/5817|960/1938||,G|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1T>C|||||2218|,G|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633T>C|||||2421|WARNING_TRANSCRIPT_NO_STOP_CODON 22 42608515 . A G . . ANN=G|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.2797T>C|p.Phe933Leu|2934/7410|2797/5883|933/1960||,G|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.2797T>C|p.Phe933Leu|2932/6237|2797/5817|933/1938||,G|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1T>C|||||2301|,G|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633T>C|||||2338|WARNING_TRANSCRIPT_NO_STOP_CODON 22 42608568 . A C . . ANN=C|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.2744T>G|p.Val915Gly|2881/7410|2744/5883|915/1960||,C|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.2744T>G|p.Val915Gly|2879/6237|2744/5817|915/1938||,C|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1T>G|||||2354|,C|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633T>G|||||2285|WARNING_TRANSCRIPT_NO_STOP_CODON 22 42608574 . C T . . ANN=T|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.2738G>A|p.Gly913Asp|2875/7410|2738/5883|913/1960||,T|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.2738G>A|p.Gly913Asp|2873/6237|2738/5817|913/1938||,T|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1G>A|||||2360|,T|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633G>A|||||2279|WARNING_TRANSCRIPT_NO_STOP_CODON 22 42609148 . T C . . ANN=C|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.2164A>G|p.Ser722Gly|2301/7410|2164/5883|722/1960||,C|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.2164A>G|p.Ser722Gly|2299/6237|2164/5817|722/1938||,C|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1A>G|||||2934|,C|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633A>G|||||1705|WARNING_TRANSCRIPT_NO_STOP_CODON 22 42609249 . G A . . ANN=A|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.2063C>T|p.Ala688Val|2200/7410|2063/5883|688/1960||,A|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.2063C>T|p.Ala688Val|2198/6237|2063/5817|688/1938||,A|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1C>T|||||3035|,A|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633C>T|||||1604|WARNING_TRANSCRIPT_NO_STOP_CODON 22 42609539 . C T . . ANN=T|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.1773G>A|p.Leu591Leu|1910/7410|1773/5883|591/1960||,T|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.1773G>A|p.Leu591Leu|1908/6237|1773/5817|591/1938||,T|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1G>A|||||3325|,T|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633G>A|||||1314|WARNING_TRANSCRIPT_NO_STOP_CODON 22 42609579 . C G . . ANN=G|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.1733G>C|p.Arg578Thr|1870/7410|1733/5883|578/1960||,G|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.1733G>C|p.Arg578Thr|1868/6237|1733/5817|578/1938||,G|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1G>C|||||3365|,G|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633G>C|||||1274|WARNING_TRANSCRIPT_NO_STOP_CODON 22 42609845 . G A . . ANN=A|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.1467C>T|p.Pro489Pro|1604/7410|1467/5883|489/1960||,A|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.1467C>T|p.Pro489Pro|1602/6237|1467/5817|489/1938||,A|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1C>T|||||3631|,A|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633C>T|||||1008|WARNING_TRANSCRIPT_NO_STOP_CODON 22 42609858 . G T . . ANN=T|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.1454C>A|p.Thr485Asn|1591/7410|1454/5883|485/1960||,T|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.1454C>A|p.Thr485Asn|1589/6237|1454/5817|485/1938||,T|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1C>A|||||3644|,T|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633C>A|||||995|WARNING_TRANSCRIPT_NO_STOP_CODON 22 42609871 . G A . . ANN=A|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.1441C>T|p.Pro481Ser|1578/7410|1441/5883|481/1960||,A|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.1441C>T|p.Pro481Ser|1576/6237|1441/5817|481/1938||,A|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1C>T|||||3657|,A|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633C>T|||||982|WARNING_TRANSCRIPT_NO_STOP_CODON 22 42609872 . A C . . ANN=C|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.1440T>G|p.Thr480Thr|1577/7410|1440/5883|480/1960||,C|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.1440T>G|p.Thr480Thr|1575/6237|1440/5817|480/1938||,C|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1T>G|||||3658|,C|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633T>G|||||981|WARNING_TRANSCRIPT_NO_STOP_CODON 22 42610099 . T C . . ANN=C|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.1213A>G|p.Met405Val|1350/7410|1213/5883|405/1960||,C|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.1213A>G|p.Met405Val|1348/6237|1213/5817|405/1938||,C|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1A>G|||||3885|,C|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633A>G|||||754|WARNING_TRANSCRIPT_NO_STOP_CODON 22 42610256 . A G . . ANN=G|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.1056T>C|p.Val352Val|1193/7410|1056/5883|352/1960||,G|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.1056T>C|p.Val352Val|1191/6237|1056/5817|352/1938||,G|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1T>C|||||4042|,G|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633T>C|||||597|WARNING_TRANSCRIPT_NO_STOP_CODON 22 42610336 . G C . . ANN=C|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.976C>G|p.Gln326Glu|1113/7410|976/5883|326/1960||,C|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.976C>G|p.Gln326Glu|1111/6237|976/5817|326/1938||,C|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1C>G|||||4122|,C|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633C>G|||||517|WARNING_TRANSCRIPT_NO_STOP_CODON 22 42610343 . GTGT G . . ANN=|disruptive_inframe_deletion|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.966_968delACA|p.Gln322del|1105/7410|966/5883|322/1960||,|disruptive_inframe_deletion|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.966_968delACA|p.Gln322del|1103/6237|966/5817|322/1938||,|sequence_feature|LOW|TCF20|ENSG00000100207|compositionally_biased_region:Poly-Gln|ENST00000359486|protein_coding|1/5|c.966_968delACA||||||,|sequence_feature|LOW|TCF20|ENSG00000100207|compositionally_biased_region:Poly-Gln|ENST00000335626|protein_coding|1/4|c.966_968delACA||||||,|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1_-1delACA|||||4130|,|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633_*633delACA|||||509|WARNING_TRANSCRIPT_NO_STOP_CODON 22 42610547 . C T . . ANN=T|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.765G>A|p.Gln255Gln|902/7410|765/5883|255/1960||,T|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.765G>A|p.Gln255Gln|900/6237|765/5817|255/1938||,T|sequence_feature|LOW|TCF20|ENSG00000100207|compositionally_biased_region:Ser-rich|ENST00000359486|protein_coding|1/5|c.765G>A||||||,T|sequence_feature|LOW|TCF20|ENSG00000100207|compositionally_biased_region:Ser-rich|ENST00000335626|protein_coding|1/4|c.765G>A||||||,T|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1G>A|||||4333|,T|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633G>A|||||306|WARNING_TRANSCRIPT_NO_STOP_CODON 22 42610583 . G A . . ANN=A|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.729C>T|p.Ser243Ser|866/7410|729/5883|243/1960||,A|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.729C>T|p.Ser243Ser|864/6237|729/5817|243/1938||,A|sequence_feature|LOW|TCF20|ENSG00000100207|compositionally_biased_region:Ser-rich|ENST00000359486|protein_coding|1/5|c.729C>T||||||,A|sequence_feature|LOW|TCF20|ENSG00000100207|compositionally_biased_region:Ser-rich|ENST00000335626|protein_coding|1/4|c.729C>T||||||,A|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1C>T|||||4369|,A|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633C>T|||||270|WARNING_TRANSCRIPT_NO_STOP_CODON 22 42610653 . G A . . ANN=A|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.659C>T|p.Ser220Phe|796/7410|659/5883|220/1960||,A|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.659C>T|p.Ser220Phe|794/6237|659/5817|220/1938||,A|sequence_feature|LOW|TCF20|ENSG00000100207|compositionally_biased_region:Ser-rich|ENST00000359486|protein_coding|1/5|c.659C>T||||||,A|sequence_feature|LOW|TCF20|ENSG00000100207|compositionally_biased_region:Ser-rich|ENST00000335626|protein_coding|1/4|c.659C>T||||||,A|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1C>T|||||4439|,A|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633C>T|||||200|WARNING_TRANSCRIPT_NO_STOP_CODON 22 42610728 . G T . . ANN=T|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.584C>A|p.Pro195Gln|721/7410|584/5883|195/1960||,T|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.584C>A|p.Pro195Gln|719/6237|584/5817|195/1938||,T|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1C>A|||||4514|,T|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633C>A|||||125|WARNING_TRANSCRIPT_NO_STOP_CODON 22 42610793 . G A . . ANN=A|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.519C>T|p.Ser173Ser|656/7410|519/5883|173/1960||,A|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.519C>T|p.Ser173Ser|654/6237|519/5817|173/1938||,A|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1C>T|||||4579|,A|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633C>T|||||60|WARNING_TRANSCRIPT_NO_STOP_CODON 22 42610871 . G A . . ANN=A|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.441C>T|p.Gly147Gly|578/7410|441/5883|147/1960||,A|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.441C>T|p.Gly147Gly|576/6237|441/5817|147/1938||,A|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding|2/2|c.441C>T|p.Gly147Gly|615/633|441/459|147/152||WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1C>T|||||4657| 22 42610958 . A G . . ANN=G|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.354T>C|p.Tyr118Tyr|491/7410|354/5883|118/1960||,G|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.354T>C|p.Tyr118Tyr|489/6237|354/5817|118/1938||,G|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding|2/2|c.354T>C|p.Tyr118Tyr|528/633|354/459|118/152||WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1T>C|||||4744| 22 42610968 . A G . . ANN=G|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.344T>C|p.Val115Ala|481/7410|344/5883|115/1960||,G|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.344T>C|p.Val115Ala|479/6237|344/5817|115/1938||,G|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding|2/2|c.344T>C|p.Val115Ala|518/633|344/459|115/152||WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1T>C|||||4754| 22 42611053 . C T . . ANN=T|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.259G>A|p.Gly87Arg|396/7410|259/5883|87/1960||,T|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.259G>A|p.Gly87Arg|394/6237|259/5817|87/1938||,T|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding|2/2|c.259G>A|p.Gly87Arg|433/633|259/459|87/152||WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1G>A|||||4839| 22 42611077 . A AACC . . ANN=ACC|inframe_insertion|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.232_234dupGGT|p.Gly78dup|371/7410|234/5883|78/1960||,ACC|inframe_insertion|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.232_234dupGGT|p.Gly78dup|369/6237|234/5817|78/1938||,ACC|inframe_insertion|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding|2/2|c.232_234dupGGT|p.Gly78dup|408/633|234/459|78/152||WARNING_TRANSCRIPT_NO_STOP_CODON,ACC|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1_-1dupGGT|||||4864| 22 42611099 . G A . . ANN=A|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.213C>T|p.Ser71Ser|350/7410|213/5883|71/1960||,A|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.213C>T|p.Ser71Ser|348/6237|213/5817|71/1938||,A|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding|2/2|c.213C>T|p.Ser71Ser|387/633|213/459|71/152||WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1C>T|||||4885| 22 42611108 . C T . . ANN=T|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.204G>A|p.Ala68Ala|341/7410|204/5883|68/1960||,T|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.204G>A|p.Ala68Ala|339/6237|204/5817|68/1938||,T|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding|2/2|c.204G>A|p.Ala68Ala|378/633|204/459|68/152||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|TCF20|ENSG00000100207|compositionally_biased_region:Poly-Ala|ENST00000359486|protein_coding|1/5|c.204G>A||||||,T|sequence_feature|LOW|TCF20|ENSG00000100207|compositionally_biased_region:Poly-Ala|ENST00000335626|protein_coding|1/4|c.204G>A||||||,T|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1G>A|||||4894| 22 42611113 . C A . . ANN=A|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.199G>T|p.Ala67Ser|336/7410|199/5883|67/1960||,A|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.199G>T|p.Ala67Ser|334/6237|199/5817|67/1938||,A|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding|2/2|c.199G>T|p.Ala67Ser|373/633|199/459|67/152||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|TCF20|ENSG00000100207|compositionally_biased_region:Poly-Ala|ENST00000359486|protein_coding|1/5|c.199G>T||||||,A|sequence_feature|LOW|TCF20|ENSG00000100207|compositionally_biased_region:Poly-Ala|ENST00000335626|protein_coding|1/4|c.199G>T||||||,A|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1G>T|||||4899| 22 42611114 . C T . . ANN=T|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.198G>A|p.Ala66Ala|335/7410|198/5883|66/1960||,T|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.198G>A|p.Ala66Ala|333/6237|198/5817|66/1938||,T|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding|2/2|c.198G>A|p.Ala66Ala|372/633|198/459|66/152||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|TCF20|ENSG00000100207|compositionally_biased_region:Poly-Ala|ENST00000359486|protein_coding|1/5|c.198G>A||||||,T|sequence_feature|LOW|TCF20|ENSG00000100207|compositionally_biased_region:Poly-Ala|ENST00000335626|protein_coding|1/4|c.198G>A||||||,T|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1G>A|||||4900| 22 42611115 . G A . . ANN=A|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.197C>T|p.Ala66Val|334/7410|197/5883|66/1960||,A|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.197C>T|p.Ala66Val|332/6237|197/5817|66/1938||,A|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding|2/2|c.197C>T|p.Ala66Val|371/633|197/459|66/152||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|TCF20|ENSG00000100207|compositionally_biased_region:Poly-Ala|ENST00000359486|protein_coding|1/5|c.197C>T||||||,A|sequence_feature|LOW|TCF20|ENSG00000100207|compositionally_biased_region:Poly-Ala|ENST00000335626|protein_coding|1/4|c.197C>T||||||,A|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1C>T|||||4901| 22 42611144 . ACCACTG A . . ANN=|disruptive_inframe_deletion|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.162_167delCAGTGG|p.Ser55_Gly56del|304/7410|162/5883|54/1960||,|disruptive_inframe_deletion|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.162_167delCAGTGG|p.Ser55_Gly56del|302/6237|162/5817|54/1938||,|disruptive_inframe_deletion|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding|2/2|c.162_167delCAGTGG|p.Ser55_Gly56del|341/633|162/459|54/152||WARNING_TRANSCRIPT_NO_STOP_CODON,|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1_-1delCAGTGG|||||4931| 22 42611174 . G A . . ANN=A|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.138C>T|p.Gly46Gly|275/7410|138/5883|46/1960||,A|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.138C>T|p.Gly46Gly|273/6237|138/5817|46/1938||,A|synonymous_variant|LOW|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding|2/2|c.138C>T|p.Gly46Gly|312/633|138/459|46/152||WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1C>T|||||4960| 22 42611265 . C G . . ANN=G|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.47G>C|p.Ser16Thr|184/7410|47/5883|16/1960||,G|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.47G>C|p.Ser16Thr|182/6237|47/5817|16/1938||,G|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding|2/2|c.47G>C|p.Ser16Thr|221/633|47/459|16/152||WARNING_TRANSCRIPT_NO_STOP_CODON 22 42611360 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.-49C>T|||||49|,A|5_prime_UTR_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.-49C>T|||||49|,A|intron_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding|1/1|c.-36-13C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 42781187 . G A . . ANN=A|synonymous_variant|LOW|NFAM1|ENSG00000235568|transcript|ENST00000329021|protein_coding|6/6|c.793C>T|p.Leu265Leu|831/5602|793/813|265/270||,A|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|4/6|c.793C>T||||||,A|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|6/6|c.793C>T||||||,A|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|3/6|c.793C>T||||||,A|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|5/6|c.793C>T|||||| 22 42781198 . C G . . ANN=G|missense_variant|MODERATE|NFAM1|ENSG00000235568|transcript|ENST00000329021|protein_coding|6/6|c.782G>C|p.Gly261Ala|820/5602|782/813|261/270||,G|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|4/6|c.782G>C||||||,G|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|6/6|c.782G>C||||||,G|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|3/6|c.782G>C||||||,G|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|5/6|c.782G>C|||||| 22 42781200 . A G . . ANN=G|synonymous_variant|LOW|NFAM1|ENSG00000235568|transcript|ENST00000329021|protein_coding|6/6|c.780T>C|p.Asp260Asp|818/5602|780/813|260/270||,G|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|4/6|c.780T>C||||||,G|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|6/6|c.780T>C||||||,G|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|3/6|c.780T>C||||||,G|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|5/6|c.780T>C|||||| 22 42781208 . C T . . ANN=T|missense_variant|MODERATE|NFAM1|ENSG00000235568|transcript|ENST00000329021|protein_coding|6/6|c.772G>A|p.Glu258Lys|810/5602|772/813|258/270||,T|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|4/6|c.772G>A||||||,T|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|6/6|c.772G>A||||||,T|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|3/6|c.772G>A||||||,T|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|5/6|c.772G>A|||||| 22 42781209 . G A . . ANN=A|synonymous_variant|LOW|NFAM1|ENSG00000235568|transcript|ENST00000329021|protein_coding|6/6|c.771C>T|p.Phe257Phe|809/5602|771/813|257/270||,A|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|4/6|c.771C>T||||||,A|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|6/6|c.771C>T||||||,A|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|3/6|c.771C>T||||||,A|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|5/6|c.771C>T|||||| 22 42781219 . G A . . ANN=A|missense_variant|MODERATE|NFAM1|ENSG00000235568|transcript|ENST00000329021|protein_coding|6/6|c.761C>T|p.Pro254Leu|799/5602|761/813|254/270||,A|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|4/6|c.761C>T||||||,A|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|6/6|c.761C>T||||||,A|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|3/6|c.761C>T||||||,A|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|5/6|c.761C>T|||||| 22 42782982 . A T . . ANN=T|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|4/6|c.753+13T>A||||||,T|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|6/6|c.753+13T>A||||||,T|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|3/6|c.753+13T>A||||||,T|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|5/6|c.753+13T>A||||||,T|intron_variant|MODIFIER|NFAM1|ENSG00000235568|transcript|ENST00000329021|protein_coding|5/5|c.753+13T>A|||||| 22 42782985 . G A . . ANN=A|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|4/6|c.753+10C>T||||||,A|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|6/6|c.753+10C>T||||||,A|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|3/6|c.753+10C>T||||||,A|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|5/6|c.753+10C>T||||||,A|intron_variant|MODIFIER|NFAM1|ENSG00000235568|transcript|ENST00000329021|protein_coding|5/5|c.753+10C>T|||||| 22 42783019 . G A . . ANN=A|synonymous_variant|LOW|NFAM1|ENSG00000235568|transcript|ENST00000329021|protein_coding|5/6|c.729C>T|p.Thr243Thr|767/5602|729/813|243/270||,A|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|4/6|c.729C>T||||||,A|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|6/6|c.729C>T||||||,A|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|3/6|c.729C>T||||||,A|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|5/6|c.729C>T|||||| 22 42783064 . G A . . ANN=A|synonymous_variant|LOW|NFAM1|ENSG00000235568|transcript|ENST00000329021|protein_coding|5/6|c.684C>T|p.Thr228Thr|722/5602|684/813|228/270||,A|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|4/6|c.684C>T||||||,A|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|6/6|c.684C>T||||||,A|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|3/6|c.684C>T||||||,A|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|5/6|c.684C>T||||||,A|sequence_feature|LOW|NFAM1|ENSG00000235568|domain:ITAM|ENST00000329021|protein_coding|4/6|c.684C>T||||||,A|sequence_feature|LOW|NFAM1|ENSG00000235568|domain:ITAM|ENST00000329021|protein_coding|5/6|c.684C>T|||||| 22 42783070 . G A . . ANN=A|synonymous_variant|LOW|NFAM1|ENSG00000235568|transcript|ENST00000329021|protein_coding|5/6|c.678C>T|p.Arg226Arg|716/5602|678/813|226/270||,A|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|4/6|c.678C>T||||||,A|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|6/6|c.678C>T||||||,A|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|3/6|c.678C>T||||||,A|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|5/6|c.678C>T||||||,A|sequence_feature|LOW|NFAM1|ENSG00000235568|domain:ITAM|ENST00000329021|protein_coding|4/6|c.678C>T||||||,A|sequence_feature|LOW|NFAM1|ENSG00000235568|domain:ITAM|ENST00000329021|protein_coding|5/6|c.678C>T|||||| 22 42783096 . G A . . ANN=A|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|4/6|c.664-12C>T||||||,A|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|6/6|c.664-12C>T||||||,A|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|3/6|c.664-12C>T||||||,A|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|5/6|c.664-12C>T||||||,A|sequence_feature|LOW|NFAM1|ENSG00000235568|domain:ITAM|ENST00000329021|protein_coding|4/6|c.664-12C>T||||||,A|sequence_feature|LOW|NFAM1|ENSG00000235568|domain:ITAM|ENST00000329021|protein_coding|5/6|c.664-12C>T||||||,A|intron_variant|MODIFIER|NFAM1|ENSG00000235568|transcript|ENST00000329021|protein_coding|4/5|c.664-12C>T|||||| 22 42783130 . G T . . ANN=T|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|4/6|c.664-46C>A||||||,T|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|6/6|c.664-46C>A||||||,T|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|3/6|c.664-46C>A||||||,T|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|5/6|c.664-46C>A||||||,T|sequence_feature|LOW|NFAM1|ENSG00000235568|domain:ITAM|ENST00000329021|protein_coding|4/6|c.664-46C>A||||||,T|sequence_feature|LOW|NFAM1|ENSG00000235568|domain:ITAM|ENST00000329021|protein_coding|5/6|c.664-46C>A||||||,T|intron_variant|MODIFIER|NFAM1|ENSG00000235568|transcript|ENST00000329021|protein_coding|4/5|c.664-46C>A|||||| 22 42793845 . C T . . ANN=T|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|4/6|c.663+19G>A||||||,T|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|6/6|c.663+19G>A||||||,T|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|3/6|c.663+19G>A||||||,T|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|5/6|c.663+19G>A||||||,T|sequence_feature|LOW|NFAM1|ENSG00000235568|domain:ITAM|ENST00000329021|protein_coding|4/6|c.663+19G>A||||||,T|sequence_feature|LOW|NFAM1|ENSG00000235568|domain:ITAM|ENST00000329021|protein_coding|5/6|c.663+19G>A||||||,T|intron_variant|MODIFIER|NFAM1|ENSG00000235568|transcript|ENST00000329021|protein_coding|4/5|c.663+19G>A|||||| 22 42793846 . G A . . ANN=A|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|4/6|c.663+18C>T||||||,A|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|6/6|c.663+18C>T||||||,A|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|3/6|c.663+18C>T||||||,A|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|5/6|c.663+18C>T||||||,A|sequence_feature|LOW|NFAM1|ENSG00000235568|domain:ITAM|ENST00000329021|protein_coding|4/6|c.663+18C>T||||||,A|sequence_feature|LOW|NFAM1|ENSG00000235568|domain:ITAM|ENST00000329021|protein_coding|5/6|c.663+18C>T||||||,A|intron_variant|MODIFIER|NFAM1|ENSG00000235568|transcript|ENST00000329021|protein_coding|4/5|c.663+18C>T|||||| 22 42793873 . A G . . ANN=G|synonymous_variant|LOW|NFAM1|ENSG00000235568|transcript|ENST00000329021|protein_coding|4/6|c.654T>C|p.Ser218Ser|692/5602|654/813|218/270||,G|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|4/6|c.654T>C||||||,G|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|6/6|c.654T>C||||||,G|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|3/6|c.654T>C||||||,G|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|5/6|c.654T>C||||||,G|sequence_feature|LOW|NFAM1|ENSG00000235568|domain:ITAM|ENST00000329021|protein_coding|4/6|c.654T>C||||||,G|sequence_feature|LOW|NFAM1|ENSG00000235568|domain:ITAM|ENST00000329021|protein_coding|5/6|c.654T>C|||||| 22 42793987 . C T . . ANN=T|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|4/6|c.565-25G>A||||||,T|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|6/6|c.565-25G>A||||||,T|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|3/6|c.565-25G>A||||||,T|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|5/6|c.565-25G>A||||||,T|intron_variant|MODIFIER|NFAM1|ENSG00000235568|transcript|ENST00000329021|protein_coding|3/5|c.565-25G>A|||||| 22 42794001 . T C . . ANN=C|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|4/6|c.565-39A>G||||||,C|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|6/6|c.565-39A>G||||||,C|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|3/6|c.565-39A>G||||||,C|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|5/6|c.565-39A>G||||||,C|intron_variant|MODIFIER|NFAM1|ENSG00000235568|transcript|ENST00000329021|protein_coding|3/5|c.565-39A>G|||||| 22 42805436 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|NFAM1|ENSG00000235568|transcript|ENST00000329021|protein_coding|3/5|c.564+5G>A||||||,T|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|4/6|c.564+5G>A||||||,T|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|6/6|c.564+5G>A||||||,T|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|3/6|c.564+5G>A||||||,T|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|5/6|c.564+5G>A||||||,T|downstream_gene_variant|MODIFIER|NFAM1|ENSG00000235568|transcript|ENST00000355469|nonsense_mediated_decay||n.*500G>A|||||847| 22 42805437 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|NFAM1|ENSG00000235568|transcript|ENST00000329021|protein_coding|3/5|c.564+4C>T||||||,A|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|4/6|c.564+4C>T||||||,A|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|6/6|c.564+4C>T||||||,A|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|3/6|c.564+4C>T||||||,A|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|5/6|c.564+4C>T||||||,A|downstream_gene_variant|MODIFIER|NFAM1|ENSG00000235568|transcript|ENST00000355469|nonsense_mediated_decay||n.*500C>T|||||846| 22 42805444 . G C . . ANN=C|missense_variant|MODERATE|NFAM1|ENSG00000235568|transcript|ENST00000329021|protein_coding|3/6|c.561C>G|p.Asn187Lys|599/5602|561/813|187/270||,C|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|4/6|c.561C>G||||||,C|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|6/6|c.561C>G||||||,C|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|3/6|c.561C>G||||||,C|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|5/6|c.561C>G||||||,C|downstream_gene_variant|MODIFIER|NFAM1|ENSG00000235568|transcript|ENST00000355469|nonsense_mediated_decay||n.*500C>G|||||839| 22 42805496 . G GTGA . . ANN=TGA|inframe_insertion|MODERATE|NFAM1|ENSG00000235568|transcript|ENST00000329021|protein_coding|3/6|c.506_508dupTCA|p.Phe169_Thr170insIle|546/5602|508/813|170/270||,TGA|sequence_feature|LOW|NFAM1|ENSG00000235568|transmembrane_region:Transmembrane_region|ENST00000329021|protein_coding|3/6|c.506_508dupTCA||||||,TGA|downstream_gene_variant|MODIFIER|NFAM1|ENSG00000235568|transcript|ENST00000355469|nonsense_mediated_decay||n.*500_*500dupTCA|||||786| 22 42805531 . C T . . ANN=T|synonymous_variant|LOW|NFAM1|ENSG00000235568|transcript|ENST00000329021|protein_coding|3/6|c.474G>A|p.Pro158Pro|512/5602|474/813|158/270||,T|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Extracellular|ENST00000329021|protein_coding|3/6|c.474G>A||||||,T|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Extracellular|ENST00000329021|protein_coding|2/6|c.474G>A||||||,T|downstream_gene_variant|MODIFIER|NFAM1|ENSG00000235568|transcript|ENST00000355469|nonsense_mediated_decay||n.*500G>A|||||752| 22 42805580 . G T . . ANN=T|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Extracellular|ENST00000329021|protein_coding|3/6|c.452-27C>A||||||,T|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Extracellular|ENST00000329021|protein_coding|2/6|c.452-27C>A||||||,T|downstream_gene_variant|MODIFIER|NFAM1|ENSG00000235568|transcript|ENST00000355469|nonsense_mediated_decay||n.*500C>A|||||703|,T|intron_variant|MODIFIER|NFAM1|ENSG00000235568|transcript|ENST00000329021|protein_coding|2/5|c.452-27C>A|||||| 22 42807401 . A G . . ANN=G|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Extracellular|ENST00000329021|protein_coding|3/6|c.451+12T>C||||||,G|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Extracellular|ENST00000329021|protein_coding|2/6|c.451+12T>C||||||,G|intron_variant|MODIFIER|NFAM1|ENSG00000235568|transcript|ENST00000329021|protein_coding|2/5|c.451+12T>C||||||,G|intron_variant|MODIFIER|NFAM1|ENSG00000235568|transcript|ENST00000355469|nonsense_mediated_decay|2/2|n.451+12T>C|||||| 22 42807455 . G A . . ANN=A|missense_variant|MODERATE|NFAM1|ENSG00000235568|transcript|ENST00000329021|protein_coding|2/6|c.409C>T|p.His137Tyr|447/5602|409/813|137/270||,A|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Extracellular|ENST00000329021|protein_coding|3/6|c.409C>T||||||,A|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Extracellular|ENST00000329021|protein_coding|2/6|c.409C>T||||||,A|sequence_feature|LOW|NFAM1|ENSG00000235568|domain:Ig-like_V-type|ENST00000329021|protein_coding|2/6|c.409C>T||||||,A|non_coding_exon_variant|MODIFIER|NFAM1|ENSG00000235568|transcript|ENST00000355469|nonsense_mediated_decay|2/3|n.409C>T|||||| 22 42807612 . A G . . ANN=G|synonymous_variant|LOW|NFAM1|ENSG00000235568|transcript|ENST00000329021|protein_coding|2/6|c.252T>C|p.His84His|290/5602|252/813|84/270||,G|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Extracellular|ENST00000329021|protein_coding|3/6|c.252T>C||||||,G|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Extracellular|ENST00000329021|protein_coding|2/6|c.252T>C||||||,G|sequence_feature|LOW|NFAM1|ENSG00000235568|domain:Ig-like_V-type|ENST00000329021|protein_coding|2/6|c.252T>C||||||,G|sequence_feature|LOW|NFAM1|ENSG00000235568|disulfide_bond|ENST00000329021|protein_coding|2/6|c.252T>C||||||,G|non_coding_exon_variant|MODIFIER|NFAM1|ENSG00000235568|transcript|ENST00000355469|nonsense_mediated_decay|2/3|n.252T>C|||||| 22 42828212 . G T . . ANN=T|sequence_feature|LOW|NFAM1|ENSG00000235568|signal_peptide|ENST00000329021|protein_coding|2/6|c.121+31C>A||||||,T|sequence_feature|LOW|NFAM1|ENSG00000235568|signal_peptide|ENST00000329021|protein_coding|1/6|c.121+31C>A||||||,T|intron_variant|MODIFIER|NFAM1|ENSG00000235568|transcript|ENST00000329021|protein_coding|1/5|c.121+31C>A||||||,T|intron_variant|MODIFIER|NFAM1|ENSG00000235568|transcript|ENST00000355469|nonsense_mediated_decay|1/2|n.121+31C>A|||||| 22 42828277 . G A . . ANN=A|synonymous_variant|LOW|NFAM1|ENSG00000235568|transcript|ENST00000329021|protein_coding|1/6|c.87C>T|p.Gly29Gly|125/5602|87/813|29/270||,A|sequence_feature|LOW|NFAM1|ENSG00000235568|signal_peptide|ENST00000329021|protein_coding|2/6|c.87C>T||||||,A|sequence_feature|LOW|NFAM1|ENSG00000235568|signal_peptide|ENST00000329021|protein_coding|1/6|c.87C>T||||||,A|non_coding_exon_variant|MODIFIER|NFAM1|ENSG00000235568|transcript|ENST00000355469|nonsense_mediated_decay|1/3|n.87C>T|||||| 22 42828404 . G A . . ANN=A|upstream_gene_variant|MODIFIER|NFAM1|ENSG00000235568|transcript|ENST00000329021|protein_coding||c.-39C>T|||||3|,A|upstream_gene_variant|MODIFIER|NFAM1|ENSG00000235568|transcript|ENST00000355469|nonsense_mediated_decay||n.-6C>T|||||36|,A|intergenic_region|MODIFIER|NFAM1-CTA-126B4.7|ENSG00000235568-ENSG00000230107|intergenic_region|ENSG00000235568-ENSG00000230107||||||||| 22 42908870 . T G . . ANN=G|3_prime_UTR_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000323013|protein_coding|7/7|c.*46A>C|||||46|,G|downstream_gene_variant|MODIFIER|SERHL|ENSG00000172250|transcript|ENST00000455578|retained_intron||n.*1712T>G|||||305|,G|downstream_gene_variant|MODIFIER|SERHL|ENSG00000172250|transcript|ENST00000359906|antisense||n.*1346T>G|||||304|,G|downstream_gene_variant|MODIFIER|SERHL|ENSG00000172250|transcript|ENST00000421475|processed_transcript||n.*684T>G|||||2212|,G|downstream_gene_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000416699|nonsense_mediated_decay||n.*170A>C|||||1813|,G|downstream_gene_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000483303|retained_intron||n.*580A>C|||||2337| 22 42908897 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000323013|protein_coding|7/7|c.*19A>G|||||19|,C|downstream_gene_variant|MODIFIER|SERHL|ENSG00000172250|transcript|ENST00000455578|retained_intron||n.*1712T>C|||||332|,C|downstream_gene_variant|MODIFIER|SERHL|ENSG00000172250|transcript|ENST00000359906|antisense||n.*1346T>C|||||331|,C|downstream_gene_variant|MODIFIER|SERHL|ENSG00000172250|transcript|ENST00000421475|processed_transcript||n.*684T>C|||||2239|,C|downstream_gene_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000416699|nonsense_mediated_decay||n.*170A>G|||||1786|,C|downstream_gene_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000483303|retained_intron||n.*580A>G|||||2310| 22 42908903 . C A . . ANN=A|3_prime_UTR_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000323013|protein_coding|7/7|c.*13G>T|||||13|,A|downstream_gene_variant|MODIFIER|SERHL|ENSG00000172250|transcript|ENST00000455578|retained_intron||n.*1712C>A|||||338|,A|downstream_gene_variant|MODIFIER|SERHL|ENSG00000172250|transcript|ENST00000359906|antisense||n.*1346C>A|||||337|,A|downstream_gene_variant|MODIFIER|SERHL|ENSG00000172250|transcript|ENST00000421475|processed_transcript||n.*684C>A|||||2245|,A|downstream_gene_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000416699|nonsense_mediated_decay||n.*170G>T|||||1780|,A|downstream_gene_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000483303|retained_intron||n.*580G>T|||||2304| 22 42910142 . C T . . ANN=T|missense_variant|MODERATE|RRP7A|ENSG00000189306|transcript|ENST00000323013|protein_coding|6/7|c.727G>A|p.Ala243Thr|743/3801|727/843|243/280||,T|downstream_gene_variant|MODIFIER|SERHL|ENSG00000172250|transcript|ENST00000455578|retained_intron||n.*1712C>T|||||1577|,T|downstream_gene_variant|MODIFIER|SERHL|ENSG00000172250|transcript|ENST00000359906|antisense||n.*1346C>T|||||1576|,T|downstream_gene_variant|MODIFIER|SERHL|ENSG00000172250|transcript|ENST00000421475|processed_transcript||n.*684C>T|||||3484|,T|downstream_gene_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000416699|nonsense_mediated_decay||n.*170G>A|||||541|,T|downstream_gene_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000483303|retained_intron||n.*580G>A|||||1065| 22 42910685 . T TA . . ANN=A|splice_donor_variant&intron_variant|HIGH|RRP7A|ENSG00000189306|transcript|ENST00000323013|protein_coding|5/6|c.558+2dupT||||||,A|3_prime_UTR_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000416699|nonsense_mediated_decay|6/6|n.*514dupT|||||3960|,A|downstream_gene_variant|MODIFIER|SERHL|ENSG00000172250|transcript|ENST00000455578|retained_intron||n.*1712_*1712insA|||||2121|,A|downstream_gene_variant|MODIFIER|SERHL|ENSG00000172250|transcript|ENST00000359906|antisense||n.*1346_*1346insA|||||2120|,A|downstream_gene_variant|MODIFIER|SERHL|ENSG00000172250|transcript|ENST00000421475|processed_transcript||n.*684_*684insA|||||4028|,A|downstream_gene_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000483303|retained_intron||n.*580dupT|||||521|,A|non_coding_exon_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000416699|nonsense_mediated_decay|6/6|n.*514dupT||||||;LOF=(RRP7A|ENSG00000189306|3|0.33) 22 42910786 . C CT . . ANN=T|splice_acceptor_variant&intron_variant|HIGH|RRP7A|ENSG00000189306|transcript|ENST00000323013|protein_coding|4/6|c.461-2dupA||||||,T|splice_acceptor_variant&intron_variant|HIGH|RRP7A|ENSG00000189306|transcript|ENST00000416699|nonsense_mediated_decay|5/5|n.*415-2dupA||||||,T|downstream_gene_variant|MODIFIER|SERHL|ENSG00000172250|transcript|ENST00000455578|retained_intron||n.*1712_*1712insT|||||2222|,T|downstream_gene_variant|MODIFIER|SERHL|ENSG00000172250|transcript|ENST00000359906|antisense||n.*1346_*1346insT|||||2221|,T|downstream_gene_variant|MODIFIER|SERHL|ENSG00000172250|transcript|ENST00000421475|processed_transcript||n.*684_*684insT|||||4129|,T|downstream_gene_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000483303|retained_intron||n.*580dupA|||||420|;LOF=(RRP7A|ENSG00000189306|3|0.33) 22 42911973 . C CCCA . . ANN=CCA|downstream_gene_variant|MODIFIER|SERHL|ENSG00000172250|transcript|ENST00000455578|retained_intron||n.*1712_*1712insCCA|||||3409|,CCA|downstream_gene_variant|MODIFIER|SERHL|ENSG00000172250|transcript|ENST00000359906|antisense||n.*1346_*1346insCCA|||||3408|,CCA|intron_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000323013|protein_coding|3/6|c.342+41_342+43dupTGG||||||,CCA|intron_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000416699|nonsense_mediated_decay|4/5|n.*296+41_*296+43dupTGG||||||,CCA|intron_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000483303|retained_intron|3/3|n.512+41_512+43dupTGG|||||| 22 42911980 . C G . . ANN=G|downstream_gene_variant|MODIFIER|SERHL|ENSG00000172250|transcript|ENST00000455578|retained_intron||n.*1712C>G|||||3415|,G|downstream_gene_variant|MODIFIER|SERHL|ENSG00000172250|transcript|ENST00000359906|antisense||n.*1346C>G|||||3414|,G|intron_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000323013|protein_coding|3/6|c.342+37G>C||||||,G|intron_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000416699|nonsense_mediated_decay|4/5|n.*296+37G>C||||||,G|intron_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000483303|retained_intron|3/3|n.512+37G>C|||||| 22 42911981 . C G . . ANN=G|downstream_gene_variant|MODIFIER|SERHL|ENSG00000172250|transcript|ENST00000455578|retained_intron||n.*1712C>G|||||3416|,G|downstream_gene_variant|MODIFIER|SERHL|ENSG00000172250|transcript|ENST00000359906|antisense||n.*1346C>G|||||3415|,G|intron_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000323013|protein_coding|3/6|c.342+36G>C||||||,G|intron_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000416699|nonsense_mediated_decay|4/5|n.*296+36G>C||||||,G|intron_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000483303|retained_intron|3/3|n.512+36G>C|||||| 22 42912011 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|RRP7A|ENSG00000189306|transcript|ENST00000323013|protein_coding|3/6|c.342+6C>T||||||,A|splice_region_variant&intron_variant|LOW|RRP7A|ENSG00000189306|transcript|ENST00000416699|nonsense_mediated_decay|4/5|n.*296+6C>T||||||,A|splice_region_variant&intron_variant|LOW|RRP7A|ENSG00000189306|transcript|ENST00000483303|retained_intron|3/3|n.512+6C>T||||||,A|downstream_gene_variant|MODIFIER|SERHL|ENSG00000172250|transcript|ENST00000455578|retained_intron||n.*1712G>A|||||3446|,A|downstream_gene_variant|MODIFIER|SERHL|ENSG00000172250|transcript|ENST00000359906|antisense||n.*1346G>A|||||3445| 22 42912024 . G A . . ANN=A|missense_variant|MODERATE|RRP7A|ENSG00000189306|transcript|ENST00000323013|protein_coding|3/7|c.335C>T|p.Pro112Leu|351/3801|335/843|112/280||,A|3_prime_UTR_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000416699|nonsense_mediated_decay|4/6|n.*289C>T|||||2622|,A|downstream_gene_variant|MODIFIER|SERHL|ENSG00000172250|transcript|ENST00000455578|retained_intron||n.*1712G>A|||||3459|,A|downstream_gene_variant|MODIFIER|SERHL|ENSG00000172250|transcript|ENST00000359906|antisense||n.*1346G>A|||||3458|,A|non_coding_exon_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000416699|nonsense_mediated_decay|4/6|n.*289C>T||||||,A|non_coding_exon_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000483303|retained_intron|3/4|n.505C>T|||||| 22 42912029 . G T . . ANN=T|synonymous_variant|LOW|RRP7A|ENSG00000189306|transcript|ENST00000323013|protein_coding|3/7|c.330C>A|p.Pro110Pro|346/3801|330/843|110/280||,T|3_prime_UTR_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000416699|nonsense_mediated_decay|4/6|n.*284C>A|||||2617|,T|downstream_gene_variant|MODIFIER|SERHL|ENSG00000172250|transcript|ENST00000455578|retained_intron||n.*1712G>T|||||3464|,T|downstream_gene_variant|MODIFIER|SERHL|ENSG00000172250|transcript|ENST00000359906|antisense||n.*1346G>T|||||3463|,T|non_coding_exon_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000416699|nonsense_mediated_decay|4/6|n.*284C>A||||||,T|non_coding_exon_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000483303|retained_intron|3/4|n.500C>A|||||| 22 42912091 . A G . . ANN=G|synonymous_variant|LOW|RRP7A|ENSG00000189306|transcript|ENST00000323013|protein_coding|3/7|c.268T>C|p.Leu90Leu|284/3801|268/843|90/280||,G|sequence_feature|LOW|RRP7A|ENSG00000189306|domain:RRM|ENST00000323013|protein_coding|3/7|c.268T>C||||||,G|sequence_feature|LOW|RRP7A|ENSG00000189306|domain:RRM|ENST00000323013|protein_coding|2/7|c.268T>C||||||,G|3_prime_UTR_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000416699|nonsense_mediated_decay|4/6|n.*222T>C|||||2555|,G|downstream_gene_variant|MODIFIER|SERHL|ENSG00000172250|transcript|ENST00000455578|retained_intron||n.*1712A>G|||||3526|,G|downstream_gene_variant|MODIFIER|SERHL|ENSG00000172250|transcript|ENST00000359906|antisense||n.*1346A>G|||||3525|,G|non_coding_exon_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000416699|nonsense_mediated_decay|4/6|n.*222T>C||||||,G|non_coding_exon_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000483303|retained_intron|3/4|n.438T>C|||||| 22 42912097 . C T . . ANN=T|missense_variant|MODERATE|RRP7A|ENSG00000189306|transcript|ENST00000323013|protein_coding|3/7|c.262G>A|p.Val88Ile|278/3801|262/843|88/280||,T|sequence_feature|LOW|RRP7A|ENSG00000189306|domain:RRM|ENST00000323013|protein_coding|3/7|c.262G>A||||||,T|sequence_feature|LOW|RRP7A|ENSG00000189306|domain:RRM|ENST00000323013|protein_coding|2/7|c.262G>A||||||,T|3_prime_UTR_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000416699|nonsense_mediated_decay|4/6|n.*216G>A|||||2549|,T|downstream_gene_variant|MODIFIER|SERHL|ENSG00000172250|transcript|ENST00000455578|retained_intron||n.*1712C>T|||||3532|,T|downstream_gene_variant|MODIFIER|SERHL|ENSG00000172250|transcript|ENST00000359906|antisense||n.*1346C>T|||||3531|,T|non_coding_exon_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000416699|nonsense_mediated_decay|4/6|n.*216G>A||||||,T|non_coding_exon_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000483303|retained_intron|3/4|n.432G>A|||||| 22 42912106 . C T . . ANN=T|missense_variant|MODERATE|RRP7A|ENSG00000189306|transcript|ENST00000323013|protein_coding|3/7|c.253G>A|p.Val85Ile|269/3801|253/843|85/280||,T|sequence_feature|LOW|RRP7A|ENSG00000189306|domain:RRM|ENST00000323013|protein_coding|3/7|c.253G>A||||||,T|sequence_feature|LOW|RRP7A|ENSG00000189306|domain:RRM|ENST00000323013|protein_coding|2/7|c.253G>A||||||,T|3_prime_UTR_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000416699|nonsense_mediated_decay|4/6|n.*207G>A|||||2540|,T|downstream_gene_variant|MODIFIER|SERHL|ENSG00000172250|transcript|ENST00000455578|retained_intron||n.*1712C>T|||||3541|,T|downstream_gene_variant|MODIFIER|SERHL|ENSG00000172250|transcript|ENST00000359906|antisense||n.*1346C>T|||||3540|,T|non_coding_exon_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000416699|nonsense_mediated_decay|4/6|n.*207G>A||||||,T|non_coding_exon_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000483303|retained_intron|3/4|n.423G>A|||||| 22 42912136 . G T . . ANN=T|missense_variant|MODERATE|RRP7A|ENSG00000189306|transcript|ENST00000323013|protein_coding|3/7|c.223C>A|p.Leu75Met|239/3801|223/843|75/280||,T|sequence_feature|LOW|RRP7A|ENSG00000189306|domain:RRM|ENST00000323013|protein_coding|3/7|c.223C>A||||||,T|sequence_feature|LOW|RRP7A|ENSG00000189306|domain:RRM|ENST00000323013|protein_coding|2/7|c.223C>A||||||,T|3_prime_UTR_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000416699|nonsense_mediated_decay|4/6|n.*177C>A|||||2510|,T|downstream_gene_variant|MODIFIER|SERHL|ENSG00000172250|transcript|ENST00000455578|retained_intron||n.*1712G>T|||||3571|,T|downstream_gene_variant|MODIFIER|SERHL|ENSG00000172250|transcript|ENST00000359906|antisense||n.*1346G>T|||||3570|,T|non_coding_exon_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000416699|nonsense_mediated_decay|4/6|n.*177C>A||||||,T|non_coding_exon_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000483303|retained_intron|3/4|n.393C>A|||||| 22 42913971 . T C . . ANN=C|sequence_feature|LOW|RRP7A|ENSG00000189306|domain:RRM|ENST00000323013|protein_coding|3/7|c.216+40A>G||||||,C|sequence_feature|LOW|RRP7A|ENSG00000189306|domain:RRM|ENST00000323013|protein_coding|2/7|c.216+40A>G||||||,C|intron_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000323013|protein_coding|2/6|c.216+40A>G||||||,C|intron_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000416699|nonsense_mediated_decay|3/5|n.*170+40A>G||||||,C|intron_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000483303|retained_intron|2/3|n.226+40A>G|||||| 22 42915711 . G T . . ANN=T|intron_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000323013|protein_coding|1/6|c.73+9C>A||||||,T|intron_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000416699|nonsense_mediated_decay|1/5|n.73+9C>A||||||,T|intron_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000483303|retained_intron|1/3|n.83+9C>A|||||| 22 42915803 . G A . . ANN=A|5_prime_UTR_premature_start_codon_gain_variant|LOW|RRP7A|ENSG00000189306|transcript|ENST00000323013|protein_coding|1/7|c.-11C>T||||||,A|5_prime_UTR_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000323013|protein_coding|1/7|c.-11C>T|||||11|,A|upstream_gene_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000416699|nonsense_mediated_decay||n.-9C>T|||||3|,A|upstream_gene_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000483303|retained_intron||n.-1C>T|||||1| 22 42949982 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000327678|protein_coding|1/12|c.-45C>T|||||45|,T|5_prime_UTR_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000477564|nonsense_mediated_decay|1/11|n.-45C>T|||||45|,T|5_prime_UTR_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000416156|nonsense_mediated_decay|1/11|n.-45C>T|||||45|,T|5_prime_UTR_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000340239|protein_coding|1/10|c.-45C>T|||||45|,T|upstream_gene_variant|MODIFIER|Z93241.1|ENSG00000265106|transcript|ENST00000580472|miRNA||n.-1G>A|||||1703|,T|upstream_gene_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000407614|protein_coding||c.-7C>T|||||39|,T|upstream_gene_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000335879|protein_coding||c.-1C>T|||||45|,T|upstream_gene_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000472589|retained_intron||n.-1C>T|||||933|,T|downstream_gene_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000357802|processed_transcript||n.*2375G>A|||||1247|,T|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000447870|protein_coding|1/6|c.-168+263C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000477564|nonsense_mediated_decay|1/11|n.-45C>T||||||,T|non_coding_exon_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000534080|retained_intron|1/10|n.92C>T||||||,T|non_coding_exon_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000416156|nonsense_mediated_decay|1/11|n.-45C>T||||||,T|non_coding_exon_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000527167|retained_intron|1/10|n.42C>T|||||| 22 42950004 . A G . . ANN=G|5_prime_UTR_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000327678|protein_coding|1/12|c.-23A>G|||||23|,G|5_prime_UTR_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000477564|nonsense_mediated_decay|1/11|n.-23A>G|||||23|,G|5_prime_UTR_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000416156|nonsense_mediated_decay|1/11|n.-23A>G|||||23|,G|5_prime_UTR_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000340239|protein_coding|1/10|c.-23A>G|||||23|,G|upstream_gene_variant|MODIFIER|Z93241.1|ENSG00000265106|transcript|ENST00000580472|miRNA||n.-1T>C|||||1725|,G|upstream_gene_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000407614|protein_coding||c.-7A>G|||||17|,G|upstream_gene_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000335879|protein_coding||c.-1A>G|||||23|,G|upstream_gene_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000472589|retained_intron||n.-1A>G|||||911|,G|downstream_gene_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000357802|processed_transcript||n.*2375T>C|||||1225|,G|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000447870|protein_coding|1/6|c.-168+285A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000477564|nonsense_mediated_decay|1/11|n.-23A>G||||||,G|non_coding_exon_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000534080|retained_intron|1/10|n.114A>G||||||,G|non_coding_exon_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000416156|nonsense_mediated_decay|1/11|n.-23A>G||||||,G|non_coding_exon_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000527167|retained_intron|1/10|n.64A>G|||||| 22 42950033 . G A . . ANN=A|missense_variant|MODERATE|SERHL2|ENSG00000183569|transcript|ENST00000327678|protein_coding|1/12|c.7G>A|p.Glu3Lys|109/1374|7/945|3/314||,A|missense_variant|MODERATE|SERHL2|ENSG00000183569|transcript|ENST00000340239|protein_coding|1/10|c.7G>A|p.Glu3Lys|109/1259|7/612|3/203||,A|missense_variant|MODERATE|SERHL2|ENSG00000183569|transcript|ENST00000407614|protein_coding|1/7|c.7G>A|p.Glu3Lys|13/521|7/405|3/134||,A|missense_variant|MODERATE|SERHL2|ENSG00000183569|transcript|ENST00000335879|protein_coding|1/10|c.7G>A|p.Glu3Lys|7/753|7/753|3/250||,A|upstream_gene_variant|MODIFIER|Z93241.1|ENSG00000265106|transcript|ENST00000580472|miRNA||n.-1C>T|||||1754|,A|upstream_gene_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000472589|retained_intron||n.-1G>A|||||882|,A|downstream_gene_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000357802|processed_transcript||n.*2375C>T|||||1196|,A|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000447870|protein_coding|1/6|c.-168+314G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000477564|nonsense_mediated_decay|1/11|n.7G>A||||||,A|non_coding_exon_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000534080|retained_intron|1/10|n.143G>A||||||,A|non_coding_exon_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000416156|nonsense_mediated_decay|1/11|n.7G>A||||||,A|non_coding_exon_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000527167|retained_intron|1/10|n.93G>A|||||| 22 42950055 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|SERHL2|ENSG00000183569|transcript|ENST00000327678|protein_coding|1/11|c.22+7C>T||||||,T|splice_region_variant&intron_variant|LOW|SERHL2|ENSG00000183569|transcript|ENST00000477564|nonsense_mediated_decay|1/10|n.22+7C>T||||||,T|splice_region_variant&intron_variant|LOW|SERHL2|ENSG00000183569|transcript|ENST00000534080|retained_intron|1/9|n.158+7C>T||||||,T|splice_region_variant&intron_variant|LOW|SERHL2|ENSG00000183569|transcript|ENST00000416156|nonsense_mediated_decay|1/10|n.22+7C>T||||||,T|splice_region_variant&intron_variant|LOW|SERHL2|ENSG00000183569|transcript|ENST00000340239|protein_coding|1/9|c.22+7C>T||||||,T|splice_region_variant&intron_variant|LOW|SERHL2|ENSG00000183569|transcript|ENST00000527167|retained_intron|1/9|n.108+7C>T||||||,T|splice_region_variant&intron_variant|LOW|SERHL2|ENSG00000183569|transcript|ENST00000407614|protein_coding|1/6|c.22+7C>T||||||,T|splice_region_variant&intron_variant|LOW|SERHL2|ENSG00000183569|transcript|ENST00000335879|protein_coding|1/9|c.22+7C>T||||||,T|upstream_gene_variant|MODIFIER|Z93241.1|ENSG00000265106|transcript|ENST00000580472|miRNA||n.-1G>A|||||1776|,T|upstream_gene_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000472589|retained_intron||n.-1C>T|||||860|,T|downstream_gene_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000357802|processed_transcript||n.*2375G>A|||||1174|,T|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000447870|protein_coding|1/6|c.-168+336C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 42952488 . CT C . . ANN=|upstream_gene_variant|MODIFIER|Z93241.1|ENSG00000265106|transcript|ENST00000580472|miRNA||n.-1delA|||||4210|,|downstream_gene_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000472589|retained_intron||n.*596delT|||||517|,|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000327678|protein_coding|5/11|c.349-31delT||||||,|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000447870|protein_coding|5/6|c.160-31delT||||||WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000477564|nonsense_mediated_decay|5/10|n.349-31delT||||||,|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000534080|retained_intron|4/9|n.443-31delT||||||,|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000416156|nonsense_mediated_decay|5/10|n.365-31delT||||||,|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000340239|protein_coding|5/9|c.349-31delT||||||,|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000527167|retained_intron|4/9|n.793-31delT||||||,|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000407614|protein_coding|2/6|c.36+1532delT||||||,|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000335879|protein_coding|3/9|c.157-31delT||||||,|non_coding_exon_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000357802|processed_transcript|8/8|n.1115delA|||||| 22 42956183 . TC T . . ANN=|splice_region_variant&intron_variant|LOW|SERHL2|ENSG00000183569|transcript|ENST00000327678|protein_coding|7/11|c.534-3delC||||||INFO_REALIGN_3_PRIME,|splice_region_variant&intron_variant|LOW|SERHL2|ENSG00000183569|transcript|ENST00000477564|nonsense_mediated_decay|7/10|n.534-3delC||||||INFO_REALIGN_3_PRIME,|splice_region_variant&intron_variant|LOW|SERHL2|ENSG00000183569|transcript|ENST00000534080|retained_intron|6/9|n.628-3delC||||||INFO_REALIGN_3_PRIME,|splice_region_variant&intron_variant|LOW|SERHL2|ENSG00000183569|transcript|ENST00000416156|nonsense_mediated_decay|7/10|n.*154-3delC||||||INFO_REALIGN_3_PRIME,|splice_region_variant&intron_variant|LOW|SERHL2|ENSG00000183569|transcript|ENST00000335879|protein_coding|5/9|c.342-3delC||||||INFO_REALIGN_3_PRIME,|downstream_gene_variant|MODIFIER|RN7SKP80|ENSG00000202058|transcript|ENST00000365188|misc_RNA||n.*283delG|||||4870|,|downstream_gene_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000447870|protein_coding||c.*563delC|||||1766|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000472589|retained_intron||n.*596delC|||||4212|,|intron_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000357802|processed_transcript|7/7|n.924-3504delG||||||,|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000340239|protein_coding|7/9|c.533+1726delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000527167|retained_intron|6/9|n.977+1726delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000407614|protein_coding|2/6|c.37-46delC||||||INFO_REALIGN_3_PRIME 22 42956189 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|SERHL2|ENSG00000183569|transcript|ENST00000327678|protein_coding|7/11|c.534-3C>T||||||,T|splice_region_variant&intron_variant|LOW|SERHL2|ENSG00000183569|transcript|ENST00000477564|nonsense_mediated_decay|7/10|n.534-3C>T||||||,T|splice_region_variant&intron_variant|LOW|SERHL2|ENSG00000183569|transcript|ENST00000534080|retained_intron|6/9|n.628-3C>T||||||,T|splice_region_variant&intron_variant|LOW|SERHL2|ENSG00000183569|transcript|ENST00000416156|nonsense_mediated_decay|7/10|n.*154-3C>T||||||,T|splice_region_variant&intron_variant|LOW|SERHL2|ENSG00000183569|transcript|ENST00000335879|protein_coding|5/9|c.342-3C>T||||||,T|downstream_gene_variant|MODIFIER|RN7SKP80|ENSG00000202058|transcript|ENST00000365188|misc_RNA||n.*283G>A|||||4865|,T|downstream_gene_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000447870|protein_coding||c.*563C>T|||||1771|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000472589|retained_intron||n.*596C>T|||||4217|,T|intron_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000357802|processed_transcript|7/7|n.924-3509G>A||||||,T|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000340239|protein_coding|7/9|c.533+1726C>T||||||,T|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000527167|retained_intron|6/9|n.977+1726C>T||||||,T|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000407614|protein_coding|2/6|c.37-46C>T|||||| 22 42956211 . C T . . ANN=T|missense_variant|MODERATE|SERHL2|ENSG00000183569|transcript|ENST00000327678|protein_coding|8/12|c.553C>T|p.His185Tyr|655/1374|553/945|185/314||,T|missense_variant|MODERATE|SERHL2|ENSG00000183569|transcript|ENST00000335879|protein_coding|6/10|c.361C>T|p.His121Tyr|361/753|361/753|121/250||,T|3_prime_UTR_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000416156|nonsense_mediated_decay|8/11|n.*173C>T|||||3660|,T|downstream_gene_variant|MODIFIER|RN7SKP80|ENSG00000202058|transcript|ENST00000365188|misc_RNA||n.*283G>A|||||4843|,T|downstream_gene_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000447870|protein_coding||c.*563C>T|||||1793|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000472589|retained_intron||n.*596C>T|||||4239|,T|intron_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000357802|processed_transcript|7/7|n.924-3531G>A||||||,T|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000340239|protein_coding|7/9|c.533+1748C>T||||||,T|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000527167|retained_intron|6/9|n.977+1748C>T||||||,T|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000407614|protein_coding|2/6|c.37-24C>T||||||,T|non_coding_exon_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000477564|nonsense_mediated_decay|8/11|n.553C>T||||||,T|non_coding_exon_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000534080|retained_intron|7/10|n.647C>T||||||,T|non_coding_exon_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000416156|nonsense_mediated_decay|8/11|n.*173C>T|||||| 22 42956224 . A C . . ANN=C|missense_variant|MODERATE|SERHL2|ENSG00000183569|transcript|ENST00000327678|protein_coding|8/12|c.566A>C|p.Glu189Ala|668/1374|566/945|189/314||,C|missense_variant|MODERATE|SERHL2|ENSG00000183569|transcript|ENST00000335879|protein_coding|6/10|c.374A>C|p.Glu125Ala|374/753|374/753|125/250||,C|3_prime_UTR_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000416156|nonsense_mediated_decay|8/11|n.*186A>C|||||3673|,C|downstream_gene_variant|MODIFIER|RN7SKP80|ENSG00000202058|transcript|ENST00000365188|misc_RNA||n.*283T>G|||||4830|,C|downstream_gene_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000447870|protein_coding||c.*563A>C|||||1806|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000472589|retained_intron||n.*596A>C|||||4252|,C|intron_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000357802|processed_transcript|7/7|n.924-3544T>G||||||,C|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000340239|protein_coding|7/9|c.533+1761A>C||||||,C|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000527167|retained_intron|6/9|n.977+1761A>C||||||,C|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000407614|protein_coding|2/6|c.37-11A>C||||||,C|non_coding_exon_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000477564|nonsense_mediated_decay|8/11|n.566A>C||||||,C|non_coding_exon_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000534080|retained_intron|7/10|n.660A>C||||||,C|non_coding_exon_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000416156|nonsense_mediated_decay|8/11|n.*186A>C|||||| 22 42956273 . T A . . ANN=A|splice_donor_variant&intron_variant|HIGH|SERHL2|ENSG00000183569|transcript|ENST00000327678|protein_coding|8/11|c.613+2T>A||||||,A|splice_donor_variant&intron_variant|HIGH|SERHL2|ENSG00000183569|transcript|ENST00000477564|nonsense_mediated_decay|8/10|n.613+2T>A||||||,A|splice_donor_variant&intron_variant|HIGH|SERHL2|ENSG00000183569|transcript|ENST00000534080|retained_intron|7/9|n.707+2T>A||||||,A|splice_donor_variant&intron_variant|HIGH|SERHL2|ENSG00000183569|transcript|ENST00000416156|nonsense_mediated_decay|8/10|n.*233+2T>A||||||,A|splice_donor_variant&intron_variant|HIGH|SERHL2|ENSG00000183569|transcript|ENST00000407614|protein_coding|3/6|c.73+2T>A||||||,A|splice_donor_variant&intron_variant|HIGH|SERHL2|ENSG00000183569|transcript|ENST00000335879|protein_coding|6/9|c.421+2T>A||||||,A|downstream_gene_variant|MODIFIER|RN7SKP80|ENSG00000202058|transcript|ENST00000365188|misc_RNA||n.*283A>T|||||4781|,A|downstream_gene_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000447870|protein_coding||c.*563T>A|||||1855|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000472589|retained_intron||n.*596T>A|||||4301|,A|intron_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000357802|processed_transcript|7/7|n.924-3593A>T||||||,A|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000340239|protein_coding|7/9|c.533+1810T>A||||||,A|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000527167|retained_intron|6/9|n.977+1810T>A||||||;LOF=(SERHL2|ENSG00000183569|10|0.30) 22 42956284 . A G . . ANN=G|downstream_gene_variant|MODIFIER|RN7SKP80|ENSG00000202058|transcript|ENST00000365188|misc_RNA||n.*283T>C|||||4770|,G|downstream_gene_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000447870|protein_coding||c.*563A>G|||||1866|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000472589|retained_intron||n.*596A>G|||||4312|,G|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000327678|protein_coding|8/11|c.613+13A>G||||||,G|intron_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000357802|processed_transcript|7/7|n.924-3604T>C||||||,G|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000477564|nonsense_mediated_decay|8/10|n.613+13A>G||||||,G|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000534080|retained_intron|7/9|n.707+13A>G||||||,G|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000416156|nonsense_mediated_decay|8/10|n.*233+13A>G||||||,G|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000340239|protein_coding|7/9|c.533+1821A>G||||||,G|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000527167|retained_intron|6/9|n.977+1821A>G||||||,G|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000407614|protein_coding|3/6|c.73+13A>G||||||,G|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000335879|protein_coding|6/9|c.421+13A>G|||||| 22 42962329 . C T . . ANN=T|synonymous_variant|LOW|SERHL2|ENSG00000183569|transcript|ENST00000327678|protein_coding|9/12|c.633C>T|p.Asp211Asp|735/1374|633/945|211/314||,T|synonymous_variant|LOW|SERHL2|ENSG00000183569|transcript|ENST00000407614|protein_coding|4/7|c.93C>T|p.Asp31Asp|99/521|93/405|31/134||,T|synonymous_variant|LOW|SERHL2|ENSG00000183569|transcript|ENST00000335879|protein_coding|7/10|c.441C>T|p.Asp147Asp|441/753|441/753|147/250||,T|upstream_gene_variant|MODIFIER|RN7SKP80|ENSG00000202058|transcript|ENST00000365188|misc_RNA||n.-1G>A|||||993|,T|downstream_gene_variant|MODIFIER|RNU6-513P|ENSG00000251913|transcript|ENST00000516104|snRNA||n.*104G>A|||||2824|,T|downstream_gene_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000437211|processed_transcript||n.*1778G>A|||||2806|,T|intron_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000357802|processed_transcript|7/7|n.923+8357G>A||||||,T|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000477564|nonsense_mediated_decay|8/10|n.614-4798C>T||||||,T|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000416156|nonsense_mediated_decay|8/10|n.*234-4798C>T||||||,T|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000340239|protein_coding|7/9|c.534-4798C>T||||||,T|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000527167|retained_intron|6/9|n.978-4798C>T||||||,T|non_coding_exon_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000534080|retained_intron|9/10|n.820C>T|||||| 22 42962330 . C T . . ANN=T|stop_gained|HIGH|SERHL2|ENSG00000183569|transcript|ENST00000327678|protein_coding|9/12|c.634C>T|p.Gln212*|736/1374|634/945|212/314||,T|stop_gained|HIGH|SERHL2|ENSG00000183569|transcript|ENST00000407614|protein_coding|4/7|c.94C>T|p.Gln32*|100/521|94/405|32/134||,T|stop_gained|HIGH|SERHL2|ENSG00000183569|transcript|ENST00000335879|protein_coding|7/10|c.442C>T|p.Gln148*|442/753|442/753|148/250||,T|upstream_gene_variant|MODIFIER|RN7SKP80|ENSG00000202058|transcript|ENST00000365188|misc_RNA||n.-1G>A|||||994|,T|downstream_gene_variant|MODIFIER|RNU6-513P|ENSG00000251913|transcript|ENST00000516104|snRNA||n.*104G>A|||||2823|,T|downstream_gene_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000437211|processed_transcript||n.*1778G>A|||||2805|,T|intron_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000357802|processed_transcript|7/7|n.923+8356G>A||||||,T|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000477564|nonsense_mediated_decay|8/10|n.614-4797C>T||||||,T|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000416156|nonsense_mediated_decay|8/10|n.*234-4797C>T||||||,T|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000340239|protein_coding|7/9|c.534-4797C>T||||||,T|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000527167|retained_intron|6/9|n.978-4797C>T||||||,T|non_coding_exon_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000534080|retained_intron|9/10|n.821C>T||||||;LOF=(SERHL2|ENSG00000183569|10|0.30);NMD=(SERHL2|ENSG00000183569|10|0.30) 22 42962356 . T G . . ANN=G|upstream_gene_variant|MODIFIER|RN7SKP80|ENSG00000202058|transcript|ENST00000365188|misc_RNA||n.-1A>C|||||1020|,G|downstream_gene_variant|MODIFIER|RNU6-513P|ENSG00000251913|transcript|ENST00000516104|snRNA||n.*104A>C|||||2797|,G|downstream_gene_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000437211|processed_transcript||n.*1778A>C|||||2779|,G|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000327678|protein_coding|9/11|c.648+12T>G||||||,G|intron_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000357802|processed_transcript|7/7|n.923+8330A>C||||||,G|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000477564|nonsense_mediated_decay|8/10|n.614-4771T>G||||||,G|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000534080|retained_intron|9/9|n.835+12T>G||||||,G|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000416156|nonsense_mediated_decay|8/10|n.*234-4771T>G||||||,G|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000340239|protein_coding|7/9|c.534-4771T>G||||||,G|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000527167|retained_intron|6/9|n.978-4771T>G||||||,G|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000407614|protein_coding|4/6|c.108+12T>G||||||,G|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000335879|protein_coding|7/9|c.456+12T>G|||||| 22 42962359 . C T . . ANN=T|upstream_gene_variant|MODIFIER|RN7SKP80|ENSG00000202058|transcript|ENST00000365188|misc_RNA||n.-1G>A|||||1023|,T|downstream_gene_variant|MODIFIER|RNU6-513P|ENSG00000251913|transcript|ENST00000516104|snRNA||n.*104G>A|||||2794|,T|downstream_gene_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000437211|processed_transcript||n.*1778G>A|||||2776|,T|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000327678|protein_coding|9/11|c.648+15C>T||||||,T|intron_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000357802|processed_transcript|7/7|n.923+8327G>A||||||,T|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000477564|nonsense_mediated_decay|8/10|n.614-4768C>T||||||,T|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000534080|retained_intron|9/9|n.835+15C>T||||||,T|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000416156|nonsense_mediated_decay|8/10|n.*234-4768C>T||||||,T|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000340239|protein_coding|7/9|c.534-4768C>T||||||,T|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000527167|retained_intron|6/9|n.978-4768C>T||||||,T|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000407614|protein_coding|4/6|c.108+15C>T||||||,T|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000335879|protein_coding|7/9|c.456+15C>T|||||| 22 42967257 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000477564|nonsense_mediated_decay|9/11|n.*114C>T|||||114|,T|3_prime_UTR_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000416156|nonsense_mediated_decay|9/11|n.*364C>T|||||14706|,T|upstream_gene_variant|MODIFIER|RNU6-513P|ENSG00000251913|transcript|ENST00000516104|snRNA||n.-1G>A|||||2001|,T|downstream_gene_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000458605|processed_transcript||n.*2332G>A|||||1993|,T|downstream_gene_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000566851|transcribed_unprocessed_pseudogene||n.*833G>A|||||3482|,T|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000327678|protein_coding|10/11|c.731+48C>T||||||,T|intron_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000357802|processed_transcript|7/7|n.923+3429G>A||||||,T|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000340239|protein_coding|8/9|c.*4+48C>T||||||,T|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000527167|retained_intron|7/9|n.1060+48C>T||||||,T|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000407614|protein_coding|5/6|c.191+48C>T||||||,T|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000335879|protein_coding|8/9|c.539+48C>T||||||,T|intron_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000437211|processed_transcript|7/7|n.895-1239G>A||||||,T|non_coding_exon_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000477564|nonsense_mediated_decay|9/11|n.*114C>T||||||,T|non_coding_exon_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000534080|retained_intron|10/10|n.966C>T||||||,T|non_coding_exon_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000416156|nonsense_mediated_decay|9/11|n.*364C>T|||||| 22 42968536 . G A . . ANN=A|splice_donor_variant&intron_variant|HIGH|SERHL2|ENSG00000183569|transcript|ENST00000327678|protein_coding|11/11|c.825+1G>A||||||,A|splice_donor_variant&intron_variant|HIGH|SERHL2|ENSG00000183569|transcript|ENST00000477564|nonsense_mediated_decay|10/10|n.*858+1G>A||||||,A|splice_donor_variant&intron_variant|HIGH|SERHL2|ENSG00000183569|transcript|ENST00000416156|nonsense_mediated_decay|10/10|n.*1108+1G>A||||||,A|splice_donor_variant&intron_variant|HIGH|SERHL2|ENSG00000183569|transcript|ENST00000340239|protein_coding|9/9|c.*98+1G>A||||||,A|splice_donor_variant&intron_variant|HIGH|SERHL2|ENSG00000183569|transcript|ENST00000527167|retained_intron|8/9|n.1154+1G>A||||||,A|splice_donor_variant&intron_variant|HIGH|SERHL2|ENSG00000183569|transcript|ENST00000407614|protein_coding|6/6|c.285+1G>A||||||,A|splice_donor_variant&intron_variant|HIGH|SERHL2|ENSG00000183569|transcript|ENST00000335879|protein_coding|9/9|c.633+1G>A||||||,A|upstream_gene_variant|MODIFIER|RNU6-513P|ENSG00000251913|transcript|ENST00000516104|snRNA||n.-1C>T|||||3280|,A|downstream_gene_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000534080|retained_intron||n.*1379G>A|||||866|,A|downstream_gene_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000458605|processed_transcript||n.*2332C>T|||||714|,A|downstream_gene_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000566851|transcribed_unprocessed_pseudogene||n.*833C>T|||||2203|,A|downstream_gene_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000421116|processed_transcript||n.*729C>T|||||4568|,A|intron_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000357802|processed_transcript|7/7|n.923+2150C>T||||||,A|intron_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000437211|processed_transcript|7/7|n.894+2150C>T||||||;LOF=(SERHL2|ENSG00000183569|10|0.40) 22 42969938 . CCAG C . . ANN=|inframe_deletion&splice_region_variant|MODERATE|SERHL2|ENSG00000183569|transcript|ENST00000327678|protein_coding|12/12|c.826_828delCAG|p.Gln276del|928/1374|826/945|276/314||INFO_REALIGN_3_PRIME,|inframe_deletion&splice_region_variant|MODERATE|SERHL2|ENSG00000183569|transcript|ENST00000407614|protein_coding|7/7|c.286_288delCAG|p.Gln96del|292/521|286/405|96/134||INFO_REALIGN_3_PRIME,|inframe_deletion&splice_region_variant|MODERATE|SERHL2|ENSG00000183569|transcript|ENST00000335879|protein_coding|10/10|c.634_636delCAG|p.Gln212del|634/753|634/753|212/250||INFO_REALIGN_3_PRIME,|splice_region_variant&non_coding_exon_variant|LOW|SERHL2|ENSG00000183569|transcript|ENST00000477564|nonsense_mediated_decay|11/11|n.*859_*861delCAG||||||INFO_REALIGN_3_PRIME,|splice_region_variant&non_coding_exon_variant|LOW|SERHL2|ENSG00000183569|transcript|ENST00000416156|nonsense_mediated_decay|11/11|n.*1109_*1111delCAG||||||INFO_REALIGN_3_PRIME,|splice_region_variant|LOW|SERHL2|ENSG00000183569|transcript|ENST00000340239|protein_coding|10/10|c.*99_*101delCAG||||||INFO_REALIGN_3_PRIME,|splice_region_variant&non_coding_exon_variant|LOW|SERHL2|ENSG00000183569|transcript|ENST00000527167|retained_intron|10/10|n.1267_1269delCAG||||||INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000477564|nonsense_mediated_decay|11/11|n.*859_*861delCAG|||||2799|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000416156|nonsense_mediated_decay|11/11|n.*1109_*1111delCAG|||||17391|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000340239|protein_coding|10/10|c.*99_*101delCAG|||||2737|INFO_REALIGN_3_PRIME,|upstream_gene_variant|MODIFIER|RNU6-513P|ENSG00000251913|transcript|ENST00000516104|snRNA||n.-1_-1delCTG|||||4683|,|downstream_gene_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000534080|retained_intron||n.*1379_*1379delCAG|||||2269|,|downstream_gene_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000566851|transcribed_unprocessed_pseudogene||n.*833_*833delCTG|||||800|,|downstream_gene_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000421116|processed_transcript||n.*729_*729delCTG|||||3165|,|intron_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000357802|processed_transcript|7/7|n.923+745_923+747delCTG||||||,|intron_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000437211|processed_transcript|7/7|n.894+745_894+747delCTG||||||,|non_coding_exon_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000458605|processed_transcript|7/7|n.1641_1643delCTG|||||| 22 42981795 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000252115|protein_coding|9/9|c.*2C>T|||||2|,A|3_prime_UTR_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|9/9|n.*411C>T|||||9782|,A|3_prime_UTR_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000348657|protein_coding|8/8|c.*2C>T|||||2|,A|3_prime_UTR_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000451060|protein_coding|7/7|c.*172C>T|||||172|,A|upstream_gene_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000357802|processed_transcript||n.-1C>T|||||3751|,A|upstream_gene_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000437211|processed_transcript||n.-1C>T|||||3780|,A|upstream_gene_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000458605|processed_transcript||n.-1C>T|||||3778|,A|upstream_gene_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000566851|transcribed_unprocessed_pseudogene||n.-1C>T|||||3788|,A|upstream_gene_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000421116|processed_transcript||n.-1C>T|||||3792|,A|downstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000491021|processed_transcript||n.*1028C>T|||||98|,A|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000339677|protein_coding|2/2|c.451-473C>T||||||,A|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|9/9|n.*411C>T|||||| 22 42981840 . G A . . ANN=A|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000252115|protein_coding|9/9|c.1223C>T|p.Ala408Val|1328/3441|1223/1266|408/421||,A|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000348657|protein_coding|8/8|c.1136C>T|p.Ala379Val|1210/3323|1136/1179|379/392||,A|3_prime_UTR_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|9/9|n.*366C>T|||||9737|,A|3_prime_UTR_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000451060|protein_coding|7/7|c.*127C>T|||||127|,A|upstream_gene_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000357802|processed_transcript||n.-1C>T|||||3796|,A|upstream_gene_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000437211|processed_transcript||n.-1C>T|||||3825|,A|upstream_gene_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000458605|processed_transcript||n.-1C>T|||||3823|,A|upstream_gene_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000566851|transcribed_unprocessed_pseudogene||n.-1C>T|||||3833|,A|upstream_gene_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000421116|processed_transcript||n.-1C>T|||||3837|,A|downstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000491021|processed_transcript||n.*1028C>T|||||53|,A|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000339677|protein_coding|2/2|c.451-518C>T||||||,A|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|9/9|n.*366C>T|||||| 22 42981860 . T C . . ANN=C|synonymous_variant|LOW|POLDIP3|ENSG00000100227|transcript|ENST00000252115|protein_coding|9/9|c.1203A>G|p.Ala401Ala|1308/3441|1203/1266|401/421||,C|synonymous_variant|LOW|POLDIP3|ENSG00000100227|transcript|ENST00000348657|protein_coding|8/8|c.1116A>G|p.Ala372Ala|1190/3323|1116/1179|372/392||,C|3_prime_UTR_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|9/9|n.*346A>G|||||9717|,C|3_prime_UTR_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000451060|protein_coding|7/7|c.*107A>G|||||107|,C|upstream_gene_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000357802|processed_transcript||n.-1A>G|||||3816|,C|upstream_gene_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000437211|processed_transcript||n.-1A>G|||||3845|,C|upstream_gene_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000458605|processed_transcript||n.-1A>G|||||3843|,C|upstream_gene_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000566851|transcribed_unprocessed_pseudogene||n.-1A>G|||||3853|,C|upstream_gene_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000421116|processed_transcript||n.-1A>G|||||3857|,C|downstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000491021|processed_transcript||n.*1028A>G|||||33|,C|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000339677|protein_coding|2/2|c.451-538A>G||||||,C|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|9/9|n.*346A>G|||||| 22 42981890 . G A . . ANN=A|synonymous_variant|LOW|POLDIP3|ENSG00000100227|transcript|ENST00000252115|protein_coding|9/9|c.1173C>T|p.Ala391Ala|1278/3441|1173/1266|391/421||,A|synonymous_variant|LOW|POLDIP3|ENSG00000100227|transcript|ENST00000348657|protein_coding|8/8|c.1086C>T|p.Ala362Ala|1160/3323|1086/1179|362/392||,A|3_prime_UTR_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|9/9|n.*316C>T|||||9687|,A|3_prime_UTR_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000451060|protein_coding|7/7|c.*77C>T|||||77|,A|upstream_gene_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000357802|processed_transcript||n.-1C>T|||||3846|,A|upstream_gene_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000437211|processed_transcript||n.-1C>T|||||3875|,A|upstream_gene_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000458605|processed_transcript||n.-1C>T|||||3873|,A|upstream_gene_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000566851|transcribed_unprocessed_pseudogene||n.-1C>T|||||3883|,A|upstream_gene_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000421116|processed_transcript||n.-1C>T|||||3887|,A|downstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000491021|processed_transcript||n.*1028C>T|||||3|,A|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000339677|protein_coding|2/2|c.451-568C>T||||||,A|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|9/9|n.*316C>T|||||| 22 42981961 . T A . . ANN=A|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000252115|protein_coding|9/9|c.1102A>T|p.Ser368Cys|1207/3441|1102/1266|368/421||,A|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000348657|protein_coding|8/8|c.1015A>T|p.Ser339Cys|1089/3323|1015/1179|339/392||,A|sequence_feature|MODERATE|POLDIP3|ENSG00000100227|amino_acid_modification:Phosphoserine|ENST00000252115|protein_coding|9/9|c.1102A>T||||||,A|sequence_feature|MODERATE|POLDIP3|ENSG00000100227|amino_acid_modification:Phosphoserine|ENST00000348657|protein_coding|8/8|c.1015A>T||||||,A|3_prime_UTR_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|9/9|n.*245A>T|||||9616|,A|3_prime_UTR_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000451060|protein_coding|7/7|c.*6A>T|||||6|,A|upstream_gene_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000357802|processed_transcript||n.-1A>T|||||3917|,A|upstream_gene_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000437211|processed_transcript||n.-1A>T|||||3946|,A|upstream_gene_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000458605|processed_transcript||n.-1A>T|||||3944|,A|upstream_gene_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000566851|transcribed_unprocessed_pseudogene||n.-1A>T|||||3954|,A|upstream_gene_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000421116|processed_transcript||n.-1A>T|||||3958|,A|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000339677|protein_coding|2/2|c.451-639A>T||||||,A|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|9/9|n.*245A>T||||||,A|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000491021|processed_transcript|9/9|n.960A>T|||||| 22 42982018 . C T . . ANN=T|upstream_gene_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000357802|processed_transcript||n.-1G>A|||||3974|,T|upstream_gene_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000437211|processed_transcript||n.-1G>A|||||4003|,T|upstream_gene_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000458605|processed_transcript||n.-1G>A|||||4001|,T|upstream_gene_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000566851|transcribed_unprocessed_pseudogene||n.-1G>A|||||4011|,T|upstream_gene_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000421116|processed_transcript||n.-1G>A|||||4015|,T|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000252115|protein_coding|8/8|c.1089-44G>A||||||,T|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|8/8|n.*232-44G>A||||||,T|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000348657|protein_coding|7/7|c.1002-44G>A||||||,T|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000339677|protein_coding|2/2|c.451-696G>A||||||,T|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000451060|protein_coding|6/6|c.554-44G>A||||||,T|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000491021|processed_transcript|8/8|n.947-44G>A|||||| 22 42983467 . A G . . ANN=G|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000252115|protein_coding|8/8|c.1088+45T>C||||||,G|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|8/8|n.*231+45T>C||||||,G|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000348657|protein_coding|7/7|c.1001+45T>C||||||,G|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000339677|protein_coding|2/2|c.451-2145T>C||||||,G|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000451060|protein_coding|6/6|c.554-1493T>C||||||,G|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000491021|processed_transcript|8/8|n.946+45T>C|||||| 22 42983472 . C T . . ANN=T|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000252115|protein_coding|8/8|c.1088+40G>A||||||,T|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|8/8|n.*231+40G>A||||||,T|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000348657|protein_coding|7/7|c.1001+40G>A||||||,T|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000339677|protein_coding|2/2|c.451-2150G>A||||||,T|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000451060|protein_coding|6/6|c.554-1498G>A||||||,T|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000491021|processed_transcript|8/8|n.946+40G>A|||||| 22 42983560 . T C . . ANN=C|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000252115|protein_coding|8/9|c.1040A>G|p.Asn347Ser|1145/3441|1040/1266|347/421||,C|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000348657|protein_coding|7/8|c.953A>G|p.Asn318Ser|1027/3323|953/1179|318/392||,C|sequence_feature|LOW|POLDIP3|ENSG00000100227|domain:RRM|ENST00000252115|protein_coding|6/9|c.1040A>G||||||,C|sequence_feature|LOW|POLDIP3|ENSG00000100227|domain:RRM|ENST00000252115|protein_coding|7/9|c.1040A>G||||||,C|sequence_feature|LOW|POLDIP3|ENSG00000100227|domain:RRM|ENST00000252115|protein_coding|8/9|c.1040A>G||||||,C|sequence_feature|LOW|POLDIP3|ENSG00000100227|domain:RRM|ENST00000348657|protein_coding|5/8|c.953A>G||||||,C|sequence_feature|LOW|POLDIP3|ENSG00000100227|domain:RRM|ENST00000348657|protein_coding|6/8|c.953A>G||||||,C|sequence_feature|LOW|POLDIP3|ENSG00000100227|domain:RRM|ENST00000348657|protein_coding|7/8|c.953A>G||||||,C|3_prime_UTR_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|8/9|n.*183A>G|||||8017|,C|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000339677|protein_coding|2/2|c.451-2238A>G||||||,C|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000451060|protein_coding|6/6|c.554-1586A>G||||||,C|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|8/9|n.*183A>G||||||,C|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000491021|processed_transcript|8/9|n.898A>G|||||| 22 42983620 . C T . . ANN=T|sequence_feature|LOW|POLDIP3|ENSG00000100227|domain:RRM|ENST00000252115|protein_coding|6/9|c.1022-42G>A||||||,T|sequence_feature|LOW|POLDIP3|ENSG00000100227|domain:RRM|ENST00000252115|protein_coding|7/9|c.1022-42G>A||||||,T|sequence_feature|LOW|POLDIP3|ENSG00000100227|domain:RRM|ENST00000252115|protein_coding|8/9|c.1022-42G>A||||||,T|sequence_feature|LOW|POLDIP3|ENSG00000100227|domain:RRM|ENST00000348657|protein_coding|5/8|c.935-42G>A||||||,T|sequence_feature|LOW|POLDIP3|ENSG00000100227|domain:RRM|ENST00000348657|protein_coding|6/8|c.935-42G>A||||||,T|sequence_feature|LOW|POLDIP3|ENSG00000100227|domain:RRM|ENST00000348657|protein_coding|7/8|c.935-42G>A||||||,T|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000252115|protein_coding|7/8|c.1022-42G>A||||||,T|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|7/8|n.*165-42G>A||||||,T|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000348657|protein_coding|6/7|c.935-42G>A||||||,T|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000339677|protein_coding|2/2|c.451-2298G>A||||||,T|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000451060|protein_coding|6/6|c.554-1646G>A||||||,T|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000491021|processed_transcript|7/8|n.880-42G>A|||||| 22 42988031 . C T . . ANN=T|synonymous_variant|LOW|POLDIP3|ENSG00000100227|transcript|ENST00000252115|protein_coding|7/9|c.951G>A|p.Ala317Ala|1056/3441|951/1266|317/421||,T|synonymous_variant|LOW|POLDIP3|ENSG00000100227|transcript|ENST00000348657|protein_coding|6/8|c.864G>A|p.Ala288Ala|938/3323|864/1179|288/392||,T|synonymous_variant|LOW|POLDIP3|ENSG00000100227|transcript|ENST00000451060|protein_coding|6/7|c.483G>A|p.Ala161Ala|749/1351|483/561|161/186||,T|sequence_feature|LOW|POLDIP3|ENSG00000100227|domain:RRM|ENST00000252115|protein_coding|6/9|c.951G>A||||||,T|sequence_feature|LOW|POLDIP3|ENSG00000100227|domain:RRM|ENST00000252115|protein_coding|7/9|c.951G>A||||||,T|sequence_feature|LOW|POLDIP3|ENSG00000100227|domain:RRM|ENST00000252115|protein_coding|8/9|c.951G>A||||||,T|sequence_feature|LOW|POLDIP3|ENSG00000100227|domain:RRM|ENST00000348657|protein_coding|5/8|c.864G>A||||||,T|sequence_feature|LOW|POLDIP3|ENSG00000100227|domain:RRM|ENST00000348657|protein_coding|6/8|c.864G>A||||||,T|sequence_feature|LOW|POLDIP3|ENSG00000100227|domain:RRM|ENST00000348657|protein_coding|7/8|c.864G>A||||||,T|3_prime_UTR_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|7/9|n.*94G>A|||||3546|,T|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000339677|protein_coding|2/2|c.451-6709G>A||||||,T|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|7/9|n.*94G>A||||||,T|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000491021|processed_transcript|7/9|n.809G>A|||||| 22 42988076 . C T . . ANN=T|synonymous_variant|LOW|POLDIP3|ENSG00000100227|transcript|ENST00000252115|protein_coding|7/9|c.906G>A|p.Val302Val|1011/3441|906/1266|302/421||,T|synonymous_variant|LOW|POLDIP3|ENSG00000100227|transcript|ENST00000348657|protein_coding|6/8|c.819G>A|p.Val273Val|893/3323|819/1179|273/392||,T|synonymous_variant|LOW|POLDIP3|ENSG00000100227|transcript|ENST00000451060|protein_coding|6/7|c.438G>A|p.Val146Val|704/1351|438/561|146/186||,T|sequence_feature|LOW|POLDIP3|ENSG00000100227|domain:RRM|ENST00000252115|protein_coding|6/9|c.906G>A||||||,T|sequence_feature|LOW|POLDIP3|ENSG00000100227|domain:RRM|ENST00000252115|protein_coding|7/9|c.906G>A||||||,T|sequence_feature|LOW|POLDIP3|ENSG00000100227|domain:RRM|ENST00000252115|protein_coding|8/9|c.906G>A||||||,T|sequence_feature|LOW|POLDIP3|ENSG00000100227|domain:RRM|ENST00000348657|protein_coding|5/8|c.819G>A||||||,T|sequence_feature|LOW|POLDIP3|ENSG00000100227|domain:RRM|ENST00000348657|protein_coding|6/8|c.819G>A||||||,T|sequence_feature|LOW|POLDIP3|ENSG00000100227|domain:RRM|ENST00000348657|protein_coding|7/8|c.819G>A||||||,T|3_prime_UTR_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|7/9|n.*49G>A|||||3501|,T|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000339677|protein_coding|2/2|c.451-6754G>A||||||,T|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|7/9|n.*49G>A||||||,T|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000491021|processed_transcript|7/9|n.764G>A|||||| 22 42988117 . T C . . ANN=C|sequence_feature|LOW|POLDIP3|ENSG00000100227|domain:RRM|ENST00000252115|protein_coding|6/9|c.892-27A>G||||||,C|sequence_feature|LOW|POLDIP3|ENSG00000100227|domain:RRM|ENST00000252115|protein_coding|7/9|c.892-27A>G||||||,C|sequence_feature|LOW|POLDIP3|ENSG00000100227|domain:RRM|ENST00000252115|protein_coding|8/9|c.892-27A>G||||||,C|sequence_feature|LOW|POLDIP3|ENSG00000100227|domain:RRM|ENST00000348657|protein_coding|5/8|c.805-27A>G||||||,C|sequence_feature|LOW|POLDIP3|ENSG00000100227|domain:RRM|ENST00000348657|protein_coding|6/8|c.805-27A>G||||||,C|sequence_feature|LOW|POLDIP3|ENSG00000100227|domain:RRM|ENST00000348657|protein_coding|7/8|c.805-27A>G||||||,C|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000252115|protein_coding|6/8|c.892-27A>G||||||,C|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|6/8|n.*35-27A>G||||||,C|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000348657|protein_coding|5/7|c.805-27A>G||||||,C|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000339677|protein_coding|2/2|c.451-6795A>G||||||,C|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000451060|protein_coding|5/6|c.424-27A>G||||||,C|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000491021|processed_transcript|6/8|n.750-27A>G|||||| 22 42988118 . G C . . ANN=C|sequence_feature|LOW|POLDIP3|ENSG00000100227|domain:RRM|ENST00000252115|protein_coding|6/9|c.892-28C>G||||||,C|sequence_feature|LOW|POLDIP3|ENSG00000100227|domain:RRM|ENST00000252115|protein_coding|7/9|c.892-28C>G||||||,C|sequence_feature|LOW|POLDIP3|ENSG00000100227|domain:RRM|ENST00000252115|protein_coding|8/9|c.892-28C>G||||||,C|sequence_feature|LOW|POLDIP3|ENSG00000100227|domain:RRM|ENST00000348657|protein_coding|5/8|c.805-28C>G||||||,C|sequence_feature|LOW|POLDIP3|ENSG00000100227|domain:RRM|ENST00000348657|protein_coding|6/8|c.805-28C>G||||||,C|sequence_feature|LOW|POLDIP3|ENSG00000100227|domain:RRM|ENST00000348657|protein_coding|7/8|c.805-28C>G||||||,C|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000252115|protein_coding|6/8|c.892-28C>G||||||,C|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|6/8|n.*35-28C>G||||||,C|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000348657|protein_coding|5/7|c.805-28C>G||||||,C|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000339677|protein_coding|2/2|c.451-6796C>G||||||,C|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000451060|protein_coding|5/6|c.424-28C>G||||||,C|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000491021|processed_transcript|6/8|n.750-28C>G|||||| 22 42992147 . C T . . ANN=T|downstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000454057|nonsense_mediated_decay||n.*573G>A|||||1567|,T|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000252115|protein_coding|5/8|c.813+45G>A||||||,T|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|5/8|n.813+45G>A||||||,T|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000348657|protein_coding|4/7|c.726+45G>A||||||,T|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000339677|protein_coding|2/2|c.450+6629G>A||||||,T|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000451060|protein_coding|4/6|c.345+45G>A||||||,T|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000491021|processed_transcript|5/8|n.671+45G>A|||||| 22 42992251 . T C . . ANN=C|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000252115|protein_coding|5/9|c.754A>G|p.Asn252Asp|859/3441|754/1266|252/421||,C|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000348657|protein_coding|4/8|c.667A>G|p.Asn223Asp|741/3323|667/1179|223/392||,C|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000451060|protein_coding|4/7|c.286A>G|p.Asn96Asp|552/1351|286/561|96/186||,C|downstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000454057|nonsense_mediated_decay||n.*573A>G|||||1463|,C|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000339677|protein_coding|2/2|c.450+6525A>G||||||,C|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|5/9|n.754A>G||||||,C|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000491021|processed_transcript|5/9|n.612A>G|||||| 22 42992275 . A C . . ANN=C|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000252115|protein_coding|5/9|c.730T>G|p.Ser244Ala|835/3441|730/1266|244/421||,C|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000348657|protein_coding|4/8|c.643T>G|p.Ser215Ala|717/3323|643/1179|215/392||,C|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000451060|protein_coding|4/7|c.262T>G|p.Ser88Ala|528/1351|262/561|88/186||,C|downstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000454057|nonsense_mediated_decay||n.*573T>G|||||1439|,C|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000339677|protein_coding|2/2|c.450+6501T>G||||||,C|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|5/9|n.730T>G||||||,C|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000491021|processed_transcript|5/9|n.588T>G|||||| 22 42992355 . GA G . . ANN=|frameshift_variant|HIGH|POLDIP3|ENSG00000100227|transcript|ENST00000252115|protein_coding|5/9|c.649delT|p.Ser217fs|754/3441|649/1266|217/421||,|frameshift_variant|HIGH|POLDIP3|ENSG00000100227|transcript|ENST00000348657|protein_coding|4/8|c.562delT|p.Ser188fs|636/3323|562/1179|188/392||,|frameshift_variant|HIGH|POLDIP3|ENSG00000100227|transcript|ENST00000451060|protein_coding|4/7|c.181delT|p.Ser61fs|447/1351|181/561|61/186||,|downstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000454057|nonsense_mediated_decay||n.*573delT|||||1358|,|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000339677|protein_coding|2/2|c.450+6420delT||||||,|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|5/9|n.649delT||||||,|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000491021|processed_transcript|5/9|n.507delT||||||;LOF=(POLDIP3|ENSG00000100227|8|0.38) 22 42992386 . A G . . ANN=G|downstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000454057|nonsense_mediated_decay||n.*573T>C|||||1328|,G|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000252115|protein_coding|4/8|c.634-15T>C||||||,G|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|4/8|n.634-15T>C||||||,G|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000348657|protein_coding|3/7|c.547-15T>C||||||,G|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000339677|protein_coding|2/2|c.450+6390T>C||||||,G|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000451060|protein_coding|3/6|c.166-15T>C||||||,G|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000491021|processed_transcript|4/8|n.492-15T>C|||||| 22 42992387 . GA G . . ANN=|downstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000454057|nonsense_mediated_decay||n.*573delT|||||1326|,|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000252115|protein_coding|4/8|c.634-17delT||||||,|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|4/8|n.634-17delT||||||,|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000348657|protein_coding|3/7|c.547-17delT||||||,|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000339677|protein_coding|2/2|c.450+6388delT||||||,|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000451060|protein_coding|3/6|c.166-17delT||||||,|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000491021|processed_transcript|4/8|n.492-17delT|||||| 22 42995674 . C T . . ANN=T|downstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000463133|processed_transcript||n.*563G>A|||||3100|,T|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000252115|protein_coding|4/8|c.633+30G>A||||||,T|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|4/8|n.633+30G>A||||||,T|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000348657|protein_coding|3/7|c.546+30G>A||||||,T|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000339677|protein_coding|2/2|c.450+3102G>A||||||,T|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000451060|protein_coding|3/6|c.165+30G>A||||||,T|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000491021|processed_transcript|3/8|n.426+30G>A||||||,T|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000454057|nonsense_mediated_decay|3/3|n.546+30G>A|||||| 22 42995724 . C T . . ANN=T|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000252115|protein_coding|4/9|c.613G>A|p.Gly205Ser|718/3441|613/1266|205/421||,T|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000348657|protein_coding|3/8|c.526G>A|p.Gly176Ser|600/3323|526/1179|176/392||,T|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000451060|protein_coding|3/7|c.145G>A|p.Gly49Ser|411/1351|145/561|49/186||,T|downstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000463133|processed_transcript||n.*563G>A|||||3050|,T|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000339677|protein_coding|2/2|c.450+3052G>A||||||,T|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|4/9|n.613G>A||||||,T|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000491021|processed_transcript|3/9|n.406G>A||||||,T|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000454057|nonsense_mediated_decay|3/4|n.526G>A|||||| 22 42995754 . G C . . ANN=C|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000252115|protein_coding|4/9|c.583C>G|p.Pro195Ala|688/3441|583/1266|195/421||,C|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000348657|protein_coding|3/8|c.496C>G|p.Pro166Ala|570/3323|496/1179|166/392||,C|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000451060|protein_coding|3/7|c.115C>G|p.Pro39Ala|381/1351|115/561|39/186||,C|downstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000463133|processed_transcript||n.*563C>G|||||3020|,C|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000339677|protein_coding|2/2|c.450+3022C>G||||||,C|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|4/9|n.583C>G||||||,C|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000491021|processed_transcript|3/9|n.376C>G||||||,C|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000454057|nonsense_mediated_decay|3/4|n.496C>G|||||| 22 42997957 . T TCTCA . . ANN=CTCA|downstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000463133|processed_transcript||n.*563_*563dupTGAG|||||816|,CTCA|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000252115|protein_coding|3/8|c.537+15_537+18dupTGAG||||||,CTCA|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|3/8|n.537+15_537+18dupTGAG||||||,CTCA|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000348657|protein_coding|2/7|c.450+815_450+818dupTGAG||||||,CTCA|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000339677|protein_coding|2/2|c.450+815_450+818dupTGAG||||||,CTCA|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000451060|protein_coding|2/6|c.69+15_69+18dupTGAG||||||,CTCA|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000491021|processed_transcript|2/8|n.330+15_330+18dupTGAG||||||,CTCA|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000454057|nonsense_mediated_decay|2/3|n.450+815_450+818dupTGAG|||||| 22 42998007 . A G . . ANN=G|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000252115|protein_coding|3/9|c.506T>C|p.Ile169Thr|611/3441|506/1266|169/421||,G|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000451060|protein_coding|2/7|c.38T>C|p.Ile13Thr|304/1351|38/561|13/186||,G|downstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000463133|processed_transcript||n.*563T>C|||||767|,G|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000348657|protein_coding|2/7|c.450+769T>C||||||,G|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000339677|protein_coding|2/2|c.450+769T>C||||||,G|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000454057|nonsense_mediated_decay|2/3|n.450+769T>C||||||,G|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|3/9|n.506T>C||||||,G|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000491021|processed_transcript|2/9|n.299T>C|||||| 22 42998030 . A G . . ANN=G|synonymous_variant|LOW|POLDIP3|ENSG00000100227|transcript|ENST00000252115|protein_coding|3/9|c.483T>C|p.His161His|588/3441|483/1266|161/421||,G|synonymous_variant|LOW|POLDIP3|ENSG00000100227|transcript|ENST00000451060|protein_coding|2/7|c.15T>C|p.His5His|281/1351|15/561|5/186||,G|downstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000463133|processed_transcript||n.*563T>C|||||744|,G|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000348657|protein_coding|2/7|c.450+746T>C||||||,G|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000339677|protein_coding|2/2|c.450+746T>C||||||,G|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000454057|nonsense_mediated_decay|2/3|n.450+746T>C||||||,G|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|3/9|n.483T>C||||||,G|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000491021|processed_transcript|2/9|n.276T>C|||||| 22 42998054 . C T . . ANN=T|synonymous_variant|LOW|POLDIP3|ENSG00000100227|transcript|ENST00000252115|protein_coding|3/9|c.459G>A|p.Gln153Gln|564/3441|459/1266|153/421||,T|5_prime_UTR_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000451060|protein_coding|2/7|c.-10G>A|||||10|,T|downstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000463133|processed_transcript||n.*563G>A|||||720|,T|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000348657|protein_coding|2/7|c.450+722G>A||||||,T|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000339677|protein_coding|2/2|c.450+722G>A||||||,T|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000454057|nonsense_mediated_decay|2/3|n.450+722G>A||||||,T|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|3/9|n.459G>A||||||,T|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000491021|processed_transcript|2/9|n.252G>A|||||| 22 42998731 . T G . . ANN=G|downstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000463133|processed_transcript||n.*563A>C|||||43|,G|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000252115|protein_coding|2/8|c.450+45A>C||||||,G|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|2/8|n.450+45A>C||||||,G|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000348657|protein_coding|2/7|c.450+45A>C||||||,G|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000339677|protein_coding|2/2|c.450+45A>C||||||,G|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000451060|protein_coding|1/6|c.-70+45A>C||||||,G|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000491021|processed_transcript|1/8|n.243+45A>C||||||,G|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000454057|nonsense_mediated_decay|2/3|n.450+45A>C|||||| 22 42998740 . G A . . ANN=A|downstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000463133|processed_transcript||n.*563C>T|||||34|,A|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000252115|protein_coding|2/8|c.450+36C>T||||||,A|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|2/8|n.450+36C>T||||||,A|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000348657|protein_coding|2/7|c.450+36C>T||||||,A|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000339677|protein_coding|2/2|c.450+36C>T||||||,A|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000451060|protein_coding|1/6|c.-70+36C>T||||||,A|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000491021|processed_transcript|1/8|n.243+36C>T||||||,A|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000454057|nonsense_mediated_decay|2/3|n.450+36C>T|||||| 22 42998759 . C CA . . ANN=A|downstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000463133|processed_transcript||n.*563dupT|||||14|,A|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000252115|protein_coding|2/8|c.450+16dupT||||||,A|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|2/8|n.450+16dupT||||||,A|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000348657|protein_coding|2/7|c.450+16dupT||||||,A|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000339677|protein_coding|2/2|c.450+16dupT||||||,A|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000451060|protein_coding|1/6|c.-70+16dupT||||||,A|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000491021|processed_transcript|1/8|n.243+16dupT||||||,A|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000454057|nonsense_mediated_decay|2/3|n.450+16dupT|||||| 22 42998846 . G A . . ANN=A|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000252115|protein_coding|2/9|c.380C>T|p.Ser127Phe|485/3441|380/1266|127/421||,A|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000348657|protein_coding|2/8|c.380C>T|p.Ser127Phe|454/3323|380/1179|127/392||,A|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000339677|protein_coding|2/3|c.380C>T|p.Ser127Phe|380/783|380/558|127/185||,A|sequence_feature|MODERATE|POLDIP3|ENSG00000100227|amino_acid_modification:Phosphoserine|ENST00000252115|protein_coding|2/9|c.380C>T||||||,A|sequence_feature|MODERATE|POLDIP3|ENSG00000100227|amino_acid_modification:Phosphoserine|ENST00000348657|protein_coding|2/8|c.380C>T||||||,A|5_prime_UTR_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000451060|protein_coding|1/7|c.-140C>T|||||802|,A|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|2/9|n.380C>T||||||,A|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000491021|processed_transcript|1/9|n.173C>T||||||,A|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000454057|nonsense_mediated_decay|2/4|n.380C>T||||||,A|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000463133|processed_transcript|3/3|n.491C>T|||||| 22 42998902 . G T . . ANN=T|synonymous_variant|LOW|POLDIP3|ENSG00000100227|transcript|ENST00000252115|protein_coding|2/9|c.324C>A|p.Pro108Pro|429/3441|324/1266|108/421||,T|synonymous_variant|LOW|POLDIP3|ENSG00000100227|transcript|ENST00000348657|protein_coding|2/8|c.324C>A|p.Pro108Pro|398/3323|324/1179|108/392||,T|synonymous_variant|LOW|POLDIP3|ENSG00000100227|transcript|ENST00000339677|protein_coding|2/3|c.324C>A|p.Pro108Pro|324/783|324/558|108/185||,T|5_prime_UTR_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000451060|protein_coding|1/7|c.-196C>A|||||858|,T|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|2/9|n.324C>A||||||,T|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000491021|processed_transcript|1/9|n.117C>A||||||,T|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000454057|nonsense_mediated_decay|2/4|n.324C>A||||||,T|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000463133|processed_transcript|3/3|n.435C>A|||||| 22 42999138 . C T . . ANN=T|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000252115|protein_coding|2/9|c.88G>A|p.Val30Ile|193/3441|88/1266|30/421||,T|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000348657|protein_coding|2/8|c.88G>A|p.Val30Ile|162/3323|88/1179|30/392||,T|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000339677|protein_coding|2/3|c.88G>A|p.Val30Ile|88/783|88/558|30/185||,T|upstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000451060|protein_coding||c.-267G>A|||||166|,T|upstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000491021|processed_transcript||n.-1G>A|||||120|,T|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|2/9|n.88G>A||||||,T|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000454057|nonsense_mediated_decay|2/4|n.88G>A||||||,T|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000463133|processed_transcript|3/3|n.199G>A|||||| 22 43010817 . G A . . ANN=A|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000252115|protein_coding|1/9|c.47C>T|p.Ala16Val|152/3441|47/1266|16/421||,A|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000348657|protein_coding|1/8|c.47C>T|p.Ala16Val|121/3323|47/1179|16/392||,A|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000339677|protein_coding|1/3|c.47C>T|p.Ala16Val|47/783|47/558|16/185||,A|upstream_gene_variant|MODIFIER|RNU12|ENSG00000270022|transcript|ENST00000602478|lincRNA||n.-1G>A|||||433|,A|upstream_gene_variant|MODIFIER|RNU12|ENSG00000270022|transcript|ENST00000362512|snRNA||n.-1G>A|||||433|,A|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000361740|protein_coding||c.*1005C>T|||||3029|,A|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000396303|protein_coding||c.*989C>T|||||3029|,A|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000352397|protein_coding||c.*1159C>T|||||3997|,A|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000407623|protein_coding||c.*1222C>T|||||4031|,A|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000407332|protein_coding||c.*929C>T|||||4042|,A|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000470741|retained_intron||n.*3938C>T|||||4064|,A|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000402438|protein_coding||c.*1021C>T|||||4933|,A|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|1/9|n.47C>T||||||,A|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000454057|nonsense_mediated_decay|1/4|n.47C>T||||||,A|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000463133|processed_transcript|1/3|n.67C>T|||||| 22 43010821 . C T . . ANN=T|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000252115|protein_coding|1/9|c.43G>A|p.Ala15Thr|148/3441|43/1266|15/421||,T|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000348657|protein_coding|1/8|c.43G>A|p.Ala15Thr|117/3323|43/1179|15/392||,T|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000339677|protein_coding|1/3|c.43G>A|p.Ala15Thr|43/783|43/558|15/185||,T|upstream_gene_variant|MODIFIER|RNU12|ENSG00000270022|transcript|ENST00000602478|lincRNA||n.-1C>T|||||429|,T|upstream_gene_variant|MODIFIER|RNU12|ENSG00000270022|transcript|ENST00000362512|snRNA||n.-1C>T|||||429|,T|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000361740|protein_coding||c.*1005G>A|||||3025|,T|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000396303|protein_coding||c.*989G>A|||||3025|,T|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000352397|protein_coding||c.*1159G>A|||||3993|,T|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000407623|protein_coding||c.*1222G>A|||||4027|,T|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000407332|protein_coding||c.*929G>A|||||4038|,T|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000470741|retained_intron||n.*3938G>A|||||4060|,T|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000402438|protein_coding||c.*1021G>A|||||4929|,T|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|1/9|n.43G>A||||||,T|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000454057|nonsense_mediated_decay|1/4|n.43G>A||||||,T|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000463133|processed_transcript|1/3|n.63G>A|||||| 22 43010889 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000252115|protein_coding|1/9|c.-26G>A|||||26|,T|5_prime_UTR_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000348657|protein_coding|1/8|c.-26G>A|||||26|,T|upstream_gene_variant|MODIFIER|RNU12|ENSG00000270022|transcript|ENST00000602478|lincRNA||n.-1C>T|||||361|,T|upstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay||n.-13G>A|||||14|,T|upstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000339677|protein_coding||c.-1G>A|||||26|,T|upstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000454057|nonsense_mediated_decay||n.-4G>A|||||23|,T|upstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000463133|processed_transcript||n.-1G>A|||||6|,T|upstream_gene_variant|MODIFIER|RNU12|ENSG00000270022|transcript|ENST00000362512|snRNA||n.-1C>T|||||361|,T|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000361740|protein_coding||c.*1005G>A|||||2957|,T|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000396303|protein_coding||c.*989G>A|||||2957|,T|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000352397|protein_coding||c.*1159G>A|||||3925|,T|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000407623|protein_coding||c.*1222G>A|||||3959|,T|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000407332|protein_coding||c.*929G>A|||||3970|,T|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000470741|retained_intron||n.*3938G>A|||||3992|,T|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000402438|protein_coding||c.*1021G>A|||||4861| 22 43010909 . C A . . ANN=A|5_prime_UTR_premature_start_codon_gain_variant|LOW|POLDIP3|ENSG00000100227|transcript|ENST00000252115|protein_coding|1/9|c.-46G>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|POLDIP3|ENSG00000100227|transcript|ENST00000348657|protein_coding|1/8|c.-46G>T||||||,A|TF_binding_site_variant|LOW|||SP1|MA0079.1|||||||||,A|5_prime_UTR_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000252115|protein_coding|1/9|c.-46G>T|||||46|,A|5_prime_UTR_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000348657|protein_coding|1/8|c.-46G>T|||||46|,A|upstream_gene_variant|MODIFIER|RNU12|ENSG00000270022|transcript|ENST00000602478|lincRNA||n.-1C>A|||||341|,A|upstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay||n.-13G>T|||||34|,A|upstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000339677|protein_coding||c.-1G>T|||||46|,A|upstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000454057|nonsense_mediated_decay||n.-4G>T|||||43|,A|upstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000463133|processed_transcript||n.-1G>T|||||26|,A|upstream_gene_variant|MODIFIER|RNU12|ENSG00000270022|transcript|ENST00000362512|snRNA||n.-1C>A|||||341|,A|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000361740|protein_coding||c.*1005G>T|||||2937|,A|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000396303|protein_coding||c.*989G>T|||||2937|,A|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000352397|protein_coding||c.*1159G>T|||||3905|,A|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000407623|protein_coding||c.*1222G>T|||||3939|,A|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000407332|protein_coding||c.*929G>T|||||3950|,A|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000470741|retained_intron||n.*3938G>T|||||3972|,A|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000402438|protein_coding||c.*1021G>T|||||4841| 22 43015787 . C T . . ANN=T|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000361740|protein_coding|9/9|c.997G>A|p.Val333Ile|997/2938|997/1005|333/334||,T|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000396303|protein_coding|9/9|c.829G>A|p.Val277Ile|981/2922|829/837|277/278||,T|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000352397|protein_coding|9/9|c.898G>A|p.Val300Ile|1151/2124|898/906|300/301||,T|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000407623|protein_coding|9/9|c.829G>A|p.Val277Ile|1214/2153|829/837|277/278||,T|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000407332|protein_coding|8/8|c.829G>A|p.Val277Ile|921/1849|829/837|277/278||,T|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000402438|protein_coding|10/10|c.829G>A|p.Val277Ile|1013/1050|829/837|277/278||,T|sequence_feature|LOW|CYB5R3|ENSG00000100243|beta_strand|ENST00000352397|protein_coding|9/9|c.898G>A||||||,T|upstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000252115|protein_coding||c.-106G>A|||||4819|,T|upstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay||n.-13G>A|||||4912|,T|upstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000348657|protein_coding||c.-75G>A|||||4850|,T|upstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000339677|protein_coding||c.-1G>A|||||4924|,T|upstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000454057|nonsense_mediated_decay||n.-4G>A|||||4921|,T|upstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000463133|processed_transcript||n.-1G>A|||||4904|,T|downstream_gene_variant|MODIFIER|RNU12|ENSG00000270022|transcript|ENST00000602478|lincRNA||n.*664C>T|||||3874|,T|downstream_gene_variant|MODIFIER|RNU12|ENSG00000270022|transcript|ENST00000362512|snRNA||n.*150C>T|||||4388|,T|non_coding_exon_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000470741|retained_intron|6/6|n.3032G>A|||||| 22 43015795 . C T . . ANN=T|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000361740|protein_coding|9/9|c.989G>A|p.Arg330His|989/2938|989/1005|330/334||,T|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000396303|protein_coding|9/9|c.821G>A|p.Arg274His|973/2922|821/837|274/278||,T|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000352397|protein_coding|9/9|c.890G>A|p.Arg297His|1143/2124|890/906|297/301||,T|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000407623|protein_coding|9/9|c.821G>A|p.Arg274His|1206/2153|821/837|274/278||,T|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000407332|protein_coding|8/8|c.821G>A|p.Arg274His|913/1849|821/837|274/278||,T|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000402438|protein_coding|10/10|c.821G>A|p.Arg274His|1005/1050|821/837|274/278||,T|sequence_feature|LOW|CYB5R3|ENSG00000100243|helix|ENST00000352397|protein_coding|9/9|c.890G>A||||||,T|upstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000252115|protein_coding||c.-106G>A|||||4827|,T|upstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay||n.-13G>A|||||4920|,T|upstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000348657|protein_coding||c.-75G>A|||||4858|,T|upstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000339677|protein_coding||c.-1G>A|||||4932|,T|upstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000454057|nonsense_mediated_decay||n.-4G>A|||||4929|,T|upstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000463133|processed_transcript||n.-1G>A|||||4912|,T|downstream_gene_variant|MODIFIER|RNU12|ENSG00000270022|transcript|ENST00000602478|lincRNA||n.*664C>T|||||3882|,T|downstream_gene_variant|MODIFIER|RNU12|ENSG00000270022|transcript|ENST00000362512|snRNA||n.*150C>T|||||4396|,T|non_coding_exon_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000470741|retained_intron|6/6|n.3024G>A|||||| 22 43015977 . T G . . ANN=G|downstream_gene_variant|MODIFIER|RNU12|ENSG00000270022|transcript|ENST00000602478|lincRNA||n.*664T>G|||||4064|,G|downstream_gene_variant|MODIFIER|RNU12|ENSG00000270022|transcript|ENST00000362512|snRNA||n.*150T>G|||||4578|,G|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000361740|protein_coding|8/8|c.833-26A>C||||||,G|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000396303|protein_coding|8/8|c.665-26A>C||||||,G|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000352397|protein_coding|8/8|c.734-26A>C||||||,G|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000407623|protein_coding|8/8|c.665-26A>C||||||,G|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000407332|protein_coding|7/7|c.665-26A>C||||||,G|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000470741|retained_intron|5/5|n.2868-26A>C||||||,G|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000402438|protein_coding|9/9|c.665-26A>C|||||| 22 43019769 . C T . . ANN=T|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000438270|protein_coding||c.*675G>A|||||3878|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000361740|protein_coding|8/8|c.832+26G>A||||||,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000396303|protein_coding|8/8|c.664+26G>A||||||,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000352397|protein_coding|8/8|c.733+26G>A||||||,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000407623|protein_coding|8/8|c.664+26G>A||||||,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000407332|protein_coding|7/7|c.664+26G>A||||||,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000470741|retained_intron|5/5|n.2867+26G>A||||||,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000402438|protein_coding|9/9|c.664+26G>A|||||| 22 43019817 . GTACCAGAGCTTGAAGCGTGCA G . . ANN=|disruptive_inframe_deletion|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000361740|protein_coding|8/9|c.789_809delTGCACGCTTCAAGCTCTGGTA|p.Ala264_Tyr270del|809/2938|789/1005|263/334||,|disruptive_inframe_deletion|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000396303|protein_coding|8/9|c.621_641delTGCACGCTTCAAGCTCTGGTA|p.Ala208_Tyr214del|793/2922|621/837|207/278||,|disruptive_inframe_deletion|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000352397|protein_coding|8/9|c.690_710delTGCACGCTTCAAGCTCTGGTA|p.Ala231_Tyr237del|963/2124|690/906|230/301||,|disruptive_inframe_deletion|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000407623|protein_coding|8/9|c.621_641delTGCACGCTTCAAGCTCTGGTA|p.Ala208_Tyr214del|1026/2153|621/837|207/278||,|disruptive_inframe_deletion|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000407332|protein_coding|7/8|c.621_641delTGCACGCTTCAAGCTCTGGTA|p.Ala208_Tyr214del|733/1849|621/837|207/278||,|disruptive_inframe_deletion|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000402438|protein_coding|9/10|c.621_641delTGCACGCTTCAAGCTCTGGTA|p.Ala208_Tyr214del|825/1050|621/837|207/278||,|sequence_feature|MODERATE|CYB5R3|ENSG00000100243|cross-link:Glycyl_lysine_isopeptide__Lys-Gly___interchain_with_G-Cter_in_ubiquitin_|ENST00000352397|protein_coding|8/9|c.690_710delTGCACGCTTCAAGCTCTGGTA||||||,|sequence_feature|LOW|CYB5R3|ENSG00000100243|beta_strand|ENST00000352397|protein_coding|8/9|c.690_710delTGCACGCTTCAAGCTCTGGTA||||||,|sequence_feature|LOW|CYB5R3|ENSG00000100243|turn|ENST00000352397|protein_coding|8/9|c.690_710delTGCACGCTTCAAGCTCTGGTA||||||,|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000438270|protein_coding||c.*675_*675delTGCACGCTTCAAGCTCTGGTA|||||3829|WARNING_TRANSCRIPT_INCOMPLETE,|non_coding_exon_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000470741|retained_intron|5/6|n.2824_2844delTGCACGCTTCAAGCTCTGGTA|||||| 22 43019826 . C T . . ANN=T|sequence_feature|MODERATE|CYB5R3|ENSG00000100243|cross-link:Glycyl_lysine_isopeptide__Lys-Gly___interchain_with_G-Cter_in_ubiquitin_|ENST00000352397|protein_coding|8/9|c.702G>A||||||,T|synonymous_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000361740|protein_coding|8/9|c.801G>A|p.Lys267Lys|801/2938|801/1005|267/334||,T|synonymous_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000396303|protein_coding|8/9|c.633G>A|p.Lys211Lys|785/2922|633/837|211/278||,T|synonymous_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000352397|protein_coding|8/9|c.702G>A|p.Lys234Lys|955/2124|702/906|234/301||,T|synonymous_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000407623|protein_coding|8/9|c.633G>A|p.Lys211Lys|1018/2153|633/837|211/278||,T|synonymous_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000407332|protein_coding|7/8|c.633G>A|p.Lys211Lys|725/1849|633/837|211/278||,T|synonymous_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000402438|protein_coding|9/10|c.633G>A|p.Lys211Lys|817/1050|633/837|211/278||,T|sequence_feature|LOW|CYB5R3|ENSG00000100243|beta_strand|ENST00000352397|protein_coding|8/9|c.702G>A||||||,T|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000438270|protein_coding||c.*675G>A|||||3821|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000470741|retained_intron|5/6|n.2836G>A|||||| 22 43019843 . G A . . ANN=A|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000361740|protein_coding|8/9|c.784C>T|p.His262Tyr|784/2938|784/1005|262/334||,A|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000396303|protein_coding|8/9|c.616C>T|p.His206Tyr|768/2922|616/837|206/278||,A|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000352397|protein_coding|8/9|c.685C>T|p.His229Tyr|938/2124|685/906|229/301||,A|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000407623|protein_coding|8/9|c.616C>T|p.His206Tyr|1001/2153|616/837|206/278||,A|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000407332|protein_coding|7/8|c.616C>T|p.His206Tyr|708/1849|616/837|206/278||,A|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000402438|protein_coding|9/10|c.616C>T|p.His206Tyr|800/1050|616/837|206/278||,A|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000438270|protein_coding||c.*675C>T|||||3804|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000470741|retained_intron|5/6|n.2819C>T|||||| 22 43019943 . C G . . ANN=G|sequence_feature|LOW|CYB5R3|ENSG00000100243|beta_strand|ENST00000352397|protein_coding|7/9|c.634-49G>C||||||,G|sequence_feature|LOW|CYB5R3|ENSG00000100243|beta_strand|ENST00000352397|protein_coding|8/9|c.634-49G>C||||||,G|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000438270|protein_coding||c.*675G>C|||||3704|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000361740|protein_coding|7/8|c.733-49G>C||||||,G|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000396303|protein_coding|7/8|c.565-49G>C||||||,G|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000352397|protein_coding|7/8|c.634-49G>C||||||,G|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000407623|protein_coding|7/8|c.565-49G>C||||||,G|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000407332|protein_coding|6/7|c.565-49G>C||||||,G|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000470741|retained_intron|4/5|n.2768-49G>C||||||,G|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000402438|protein_coding|8/9|c.565-49G>C|||||| 22 43023263 . C T . . ANN=T|sequence_feature|LOW|CYB5R3|ENSG00000100243|beta_strand|ENST00000352397|protein_coding|7/9|c.633+47G>A||||||,T|sequence_feature|LOW|CYB5R3|ENSG00000100243|beta_strand|ENST00000352397|protein_coding|8/9|c.633+47G>A||||||,T|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000438270|protein_coding||c.*675G>A|||||384|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000466276|retained_intron||n.*581G>A|||||3784|,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000361740|protein_coding|7/8|c.732+47G>A||||||,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000396303|protein_coding|7/8|c.564+47G>A||||||,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000352397|protein_coding|7/8|c.633+47G>A||||||,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000407623|protein_coding|7/8|c.564+47G>A||||||,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000407332|protein_coding|6/7|c.564+47G>A||||||,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000470741|retained_intron|4/5|n.2767+47G>A||||||,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000402438|protein_coding|8/9|c.564+47G>A|||||| 22 43023295 . G A . . ANN=A|sequence_feature|LOW|CYB5R3|ENSG00000100243|beta_strand|ENST00000352397|protein_coding|7/9|c.633+15C>T||||||,A|sequence_feature|LOW|CYB5R3|ENSG00000100243|beta_strand|ENST00000352397|protein_coding|8/9|c.633+15C>T||||||,A|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000438270|protein_coding||c.*675C>T|||||352|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000466276|retained_intron||n.*581C>T|||||3752|,A|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000361740|protein_coding|7/8|c.732+15C>T||||||,A|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000396303|protein_coding|7/8|c.564+15C>T||||||,A|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000352397|protein_coding|7/8|c.633+15C>T||||||,A|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000407623|protein_coding|7/8|c.564+15C>T||||||,A|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000407332|protein_coding|6/7|c.564+15C>T||||||,A|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000470741|retained_intron|4/5|n.2767+15C>T||||||,A|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000402438|protein_coding|8/9|c.564+15C>T|||||| 22 43023368 . C T . . ANN=T|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000361740|protein_coding|7/9|c.674G>A|p.Arg225His|674/2938|674/1005|225/334||,T|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000396303|protein_coding|7/9|c.506G>A|p.Arg169His|658/2922|506/837|169/278||,T|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000352397|protein_coding|7/9|c.575G>A|p.Arg192His|828/2124|575/906|192/301||,T|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000407623|protein_coding|7/9|c.506G>A|p.Arg169His|891/2153|506/837|169/278||,T|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000407332|protein_coding|6/8|c.506G>A|p.Arg169His|598/1849|506/837|169/278||,T|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000402438|protein_coding|8/10|c.506G>A|p.Arg169His|690/1050|506/837|169/278||,T|sequence_feature|LOW|CYB5R3|ENSG00000100243|nucleotide_phosphate-binding_region:FAD|ENST00000352397|protein_coding|6/9|c.575G>A||||||,T|sequence_feature|LOW|CYB5R3|ENSG00000100243|nucleotide_phosphate-binding_region:FAD|ENST00000352397|protein_coding|7/9|c.575G>A||||||,T|sequence_feature|LOW|CYB5R3|ENSG00000100243|helix|ENST00000352397|protein_coding|7/9|c.575G>A||||||,T|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000438270|protein_coding||c.*675G>A|||||279|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000466276|retained_intron||n.*581G>A|||||3679|,T|non_coding_exon_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000470741|retained_intron|4/6|n.2709G>A|||||| 22 43023409 . G C . . ANN=C|sequence_feature|LOW|CYB5R3|ENSG00000100243|nucleotide_phosphate-binding_region:FAD|ENST00000352397|protein_coding|6/9|c.548-14C>G||||||,C|sequence_feature|LOW|CYB5R3|ENSG00000100243|nucleotide_phosphate-binding_region:FAD|ENST00000352397|protein_coding|7/9|c.548-14C>G||||||,C|sequence_feature|LOW|CYB5R3|ENSG00000100243|helix|ENST00000352397|protein_coding|6/9|c.548-14C>G||||||,C|sequence_feature|LOW|CYB5R3|ENSG00000100243|helix|ENST00000352397|protein_coding|7/9|c.548-14C>G||||||,C|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000438270|protein_coding||c.*675C>G|||||238|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000466276|retained_intron||n.*581C>G|||||3638|,C|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000361740|protein_coding|6/8|c.647-14C>G||||||,C|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000396303|protein_coding|6/8|c.479-14C>G||||||,C|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000352397|protein_coding|6/8|c.548-14C>G||||||,C|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000407623|protein_coding|6/8|c.479-14C>G||||||,C|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000407332|protein_coding|5/7|c.479-14C>G||||||,C|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000470741|retained_intron|3/5|n.2682-14C>G||||||,C|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000402438|protein_coding|7/9|c.479-14C>G|||||| 22 43023429 . G C . . ANN=C|sequence_feature|LOW|CYB5R3|ENSG00000100243|nucleotide_phosphate-binding_region:FAD|ENST00000352397|protein_coding|6/9|c.548-34C>G||||||,C|sequence_feature|LOW|CYB5R3|ENSG00000100243|nucleotide_phosphate-binding_region:FAD|ENST00000352397|protein_coding|7/9|c.548-34C>G||||||,C|sequence_feature|LOW|CYB5R3|ENSG00000100243|helix|ENST00000352397|protein_coding|6/9|c.548-34C>G||||||,C|sequence_feature|LOW|CYB5R3|ENSG00000100243|helix|ENST00000352397|protein_coding|7/9|c.548-34C>G||||||,C|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000438270|protein_coding||c.*675C>G|||||218|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000466276|retained_intron||n.*581C>G|||||3618|,C|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000361740|protein_coding|6/8|c.647-34C>G||||||,C|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000396303|protein_coding|6/8|c.479-34C>G||||||,C|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000352397|protein_coding|6/8|c.548-34C>G||||||,C|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000407623|protein_coding|6/8|c.479-34C>G||||||,C|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000407332|protein_coding|5/7|c.479-34C>G||||||,C|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000470741|retained_intron|3/5|n.2682-34C>G||||||,C|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000402438|protein_coding|7/9|c.479-34C>G|||||| 22 43023432 . C T . . ANN=T|sequence_feature|LOW|CYB5R3|ENSG00000100243|nucleotide_phosphate-binding_region:FAD|ENST00000352397|protein_coding|6/9|c.548-37G>A||||||,T|sequence_feature|LOW|CYB5R3|ENSG00000100243|nucleotide_phosphate-binding_region:FAD|ENST00000352397|protein_coding|7/9|c.548-37G>A||||||,T|sequence_feature|LOW|CYB5R3|ENSG00000100243|helix|ENST00000352397|protein_coding|6/9|c.548-37G>A||||||,T|sequence_feature|LOW|CYB5R3|ENSG00000100243|helix|ENST00000352397|protein_coding|7/9|c.548-37G>A||||||,T|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000438270|protein_coding||c.*675G>A|||||215|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000466276|retained_intron||n.*581G>A|||||3615|,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000361740|protein_coding|6/8|c.647-37G>A||||||,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000396303|protein_coding|6/8|c.479-37G>A||||||,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000352397|protein_coding|6/8|c.548-37G>A||||||,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000407623|protein_coding|6/8|c.479-37G>A||||||,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000407332|protein_coding|5/7|c.479-37G>A||||||,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000470741|retained_intron|3/5|n.2682-37G>A||||||,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000402438|protein_coding|7/9|c.479-37G>A|||||| 22 43023563 . C T . . ANN=T|sequence_feature|LOW|CYB5R3|ENSG00000100243|nucleotide_phosphate-binding_region:FAD|ENST00000352397|protein_coding|6/9|c.547+48G>A||||||,T|sequence_feature|LOW|CYB5R3|ENSG00000100243|nucleotide_phosphate-binding_region:FAD|ENST00000352397|protein_coding|7/9|c.547+48G>A||||||,T|sequence_feature|LOW|CYB5R3|ENSG00000100243|helix|ENST00000352397|protein_coding|6/9|c.547+48G>A||||||,T|sequence_feature|LOW|CYB5R3|ENSG00000100243|helix|ENST00000352397|protein_coding|7/9|c.547+48G>A||||||,T|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000438270|protein_coding||c.*675G>A|||||84|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000466276|retained_intron||n.*581G>A|||||3484|,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000361740|protein_coding|6/8|c.646+48G>A||||||,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000396303|protein_coding|6/8|c.478+48G>A||||||,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000352397|protein_coding|6/8|c.547+48G>A||||||,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000407623|protein_coding|6/8|c.478+48G>A||||||,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000407332|protein_coding|5/7|c.478+48G>A||||||,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000470741|retained_intron|3/5|n.2681+48G>A||||||,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000402438|protein_coding|7/9|c.478+48G>A|||||| 22 43023579 . C T . . ANN=T|sequence_feature|LOW|CYB5R3|ENSG00000100243|nucleotide_phosphate-binding_region:FAD|ENST00000352397|protein_coding|6/9|c.547+32G>A||||||,T|sequence_feature|LOW|CYB5R3|ENSG00000100243|nucleotide_phosphate-binding_region:FAD|ENST00000352397|protein_coding|7/9|c.547+32G>A||||||,T|sequence_feature|LOW|CYB5R3|ENSG00000100243|helix|ENST00000352397|protein_coding|6/9|c.547+32G>A||||||,T|sequence_feature|LOW|CYB5R3|ENSG00000100243|helix|ENST00000352397|protein_coding|7/9|c.547+32G>A||||||,T|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000438270|protein_coding||c.*675G>A|||||68|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000466276|retained_intron||n.*581G>A|||||3468|,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000361740|protein_coding|6/8|c.646+32G>A||||||,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000396303|protein_coding|6/8|c.478+32G>A||||||,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000352397|protein_coding|6/8|c.547+32G>A||||||,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000407623|protein_coding|6/8|c.478+32G>A||||||,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000407332|protein_coding|5/7|c.478+32G>A||||||,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000470741|retained_intron|3/5|n.2681+32G>A||||||,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000402438|protein_coding|7/9|c.478+32G>A|||||| 22 43023586 . C G . . ANN=G|sequence_feature|LOW|CYB5R3|ENSG00000100243|nucleotide_phosphate-binding_region:FAD|ENST00000352397|protein_coding|6/9|c.547+25G>C||||||,G|sequence_feature|LOW|CYB5R3|ENSG00000100243|nucleotide_phosphate-binding_region:FAD|ENST00000352397|protein_coding|7/9|c.547+25G>C||||||,G|sequence_feature|LOW|CYB5R3|ENSG00000100243|helix|ENST00000352397|protein_coding|6/9|c.547+25G>C||||||,G|sequence_feature|LOW|CYB5R3|ENSG00000100243|helix|ENST00000352397|protein_coding|7/9|c.547+25G>C||||||,G|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000438270|protein_coding||c.*675G>C|||||61|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000466276|retained_intron||n.*581G>C|||||3461|,G|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000361740|protein_coding|6/8|c.646+25G>C||||||,G|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000396303|protein_coding|6/8|c.478+25G>C||||||,G|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000352397|protein_coding|6/8|c.547+25G>C||||||,G|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000407623|protein_coding|6/8|c.478+25G>C||||||,G|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000407332|protein_coding|5/7|c.478+25G>C||||||,G|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000470741|retained_intron|3/5|n.2681+25G>C||||||,G|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000402438|protein_coding|7/9|c.478+25G>C|||||| 22 43023599 . G T . . ANN=T|sequence_feature|LOW|CYB5R3|ENSG00000100243|nucleotide_phosphate-binding_region:FAD|ENST00000352397|protein_coding|6/9|c.547+12C>A||||||,T|sequence_feature|LOW|CYB5R3|ENSG00000100243|nucleotide_phosphate-binding_region:FAD|ENST00000352397|protein_coding|7/9|c.547+12C>A||||||,T|sequence_feature|LOW|CYB5R3|ENSG00000100243|helix|ENST00000352397|protein_coding|6/9|c.547+12C>A||||||,T|sequence_feature|LOW|CYB5R3|ENSG00000100243|helix|ENST00000352397|protein_coding|7/9|c.547+12C>A||||||,T|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000438270|protein_coding||c.*675C>A|||||48|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000466276|retained_intron||n.*581C>A|||||3448|,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000361740|protein_coding|6/8|c.646+12C>A||||||,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000396303|protein_coding|6/8|c.478+12C>A||||||,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000352397|protein_coding|6/8|c.547+12C>A||||||,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000407623|protein_coding|6/8|c.478+12C>A||||||,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000407332|protein_coding|5/7|c.478+12C>A||||||,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000470741|retained_intron|3/5|n.2681+12C>A||||||,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000402438|protein_coding|7/9|c.478+12C>A|||||| 22 43023621 . C T . . ANN=T|synonymous_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000361740|protein_coding|6/9|c.636G>A|p.Ala212Ala|636/2938|636/1005|212/334||,T|synonymous_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000396303|protein_coding|6/9|c.468G>A|p.Ala156Ala|620/2922|468/837|156/278||,T|synonymous_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000352397|protein_coding|6/9|c.537G>A|p.Ala179Ala|790/2124|537/906|179/301||,T|synonymous_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000407623|protein_coding|6/9|c.468G>A|p.Ala156Ala|853/2153|468/837|156/278||,T|synonymous_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000407332|protein_coding|5/8|c.468G>A|p.Ala156Ala|560/1849|468/837|156/278||,T|synonymous_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000402438|protein_coding|7/10|c.468G>A|p.Ala156Ala|652/1050|468/837|156/278||,T|sequence_feature|LOW|CYB5R3|ENSG00000100243|nucleotide_phosphate-binding_region:FAD|ENST00000352397|protein_coding|6/9|c.537G>A||||||,T|sequence_feature|LOW|CYB5R3|ENSG00000100243|nucleotide_phosphate-binding_region:FAD|ENST00000352397|protein_coding|7/9|c.537G>A||||||,T|sequence_feature|LOW|CYB5R3|ENSG00000100243|beta_strand|ENST00000352397|protein_coding|6/9|c.537G>A||||||,T|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000438270|protein_coding||c.*675G>A|||||26|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000466276|retained_intron||n.*581G>A|||||3426|,T|non_coding_exon_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000470741|retained_intron|3/6|n.2671G>A|||||| 22 43023622 . G A . . ANN=A|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000361740|protein_coding|6/9|c.635C>T|p.Ala212Val|635/2938|635/1005|212/334||,A|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000396303|protein_coding|6/9|c.467C>T|p.Ala156Val|619/2922|467/837|156/278||,A|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000352397|protein_coding|6/9|c.536C>T|p.Ala179Val|789/2124|536/906|179/301||,A|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000407623|protein_coding|6/9|c.467C>T|p.Ala156Val|852/2153|467/837|156/278||,A|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000407332|protein_coding|5/8|c.467C>T|p.Ala156Val|559/1849|467/837|156/278||,A|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000402438|protein_coding|7/10|c.467C>T|p.Ala156Val|651/1050|467/837|156/278||,A|sequence_feature|LOW|CYB5R3|ENSG00000100243|nucleotide_phosphate-binding_region:FAD|ENST00000352397|protein_coding|6/9|c.536C>T||||||,A|sequence_feature|LOW|CYB5R3|ENSG00000100243|nucleotide_phosphate-binding_region:FAD|ENST00000352397|protein_coding|7/9|c.536C>T||||||,A|sequence_feature|LOW|CYB5R3|ENSG00000100243|beta_strand|ENST00000352397|protein_coding|6/9|c.536C>T||||||,A|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000438270|protein_coding||c.*675C>T|||||25|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000466276|retained_intron||n.*581C>T|||||3425|,A|non_coding_exon_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000470741|retained_intron|3/6|n.2670C>T|||||| 22 43023687 . G A . . ANN=A|synonymous_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000361740|protein_coding|6/9|c.570C>T|p.Phe190Phe|570/2938|570/1005|190/334||,A|synonymous_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000396303|protein_coding|6/9|c.402C>T|p.Phe134Phe|554/2922|402/837|134/278||,A|synonymous_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000352397|protein_coding|6/9|c.471C>T|p.Phe157Phe|724/2124|471/906|157/301||,A|synonymous_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000407623|protein_coding|6/9|c.402C>T|p.Phe134Phe|787/2153|402/837|134/278||,A|synonymous_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000407332|protein_coding|5/8|c.402C>T|p.Phe134Phe|494/1849|402/837|134/278||,A|synonymous_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000402438|protein_coding|7/10|c.402C>T|p.Phe134Phe|586/1050|402/837|134/278||,A|synonymous_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000438270|protein_coding|6/6|c.402C>T|p.Phe134Phe|635/675|402/442|134/146||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|CYB5R3|ENSG00000100243|beta_strand|ENST00000352397|protein_coding|6/9|c.471C>T||||||,A|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000466276|retained_intron||n.*581C>T|||||3360|,A|non_coding_exon_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000470741|retained_intron|3/6|n.2605C>T|||||| 22 43024119 . G A . . ANN=A|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000466276|retained_intron||n.*581C>T|||||2928|,A|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000361740|protein_coding|5/8|c.562+39C>T||||||,A|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000396303|protein_coding|5/8|c.394+39C>T||||||,A|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000352397|protein_coding|5/8|c.463+39C>T||||||,A|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000407623|protein_coding|5/8|c.394+39C>T||||||,A|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000407332|protein_coding|4/7|c.394+39C>T||||||,A|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000470741|retained_intron|2/5|n.2597+39C>T||||||,A|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000402438|protein_coding|6/9|c.394+39C>T||||||,A|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000438270|protein_coding|5/5|c.394+39C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 43024145 . C T . . ANN=T|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000466276|retained_intron||n.*581G>A|||||2902|,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000361740|protein_coding|5/8|c.562+13G>A||||||,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000396303|protein_coding|5/8|c.394+13G>A||||||,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000352397|protein_coding|5/8|c.463+13G>A||||||,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000407623|protein_coding|5/8|c.394+13G>A||||||,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000407332|protein_coding|4/7|c.394+13G>A||||||,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000470741|retained_intron|2/5|n.2597+13G>A||||||,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000402438|protein_coding|6/9|c.394+13G>A||||||,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000438270|protein_coding|5/5|c.394+13G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 43024189 . G A . . ANN=A|synonymous_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000361740|protein_coding|5/9|c.531C>T|p.Gly177Gly|531/2938|531/1005|177/334||,A|synonymous_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000396303|protein_coding|5/9|c.363C>T|p.Gly121Gly|515/2922|363/837|121/278||,A|synonymous_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000352397|protein_coding|5/9|c.432C>T|p.Gly144Gly|685/2124|432/906|144/301||,A|synonymous_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000407623|protein_coding|5/9|c.363C>T|p.Gly121Gly|748/2153|363/837|121/278||,A|synonymous_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000407332|protein_coding|4/8|c.363C>T|p.Gly121Gly|455/1849|363/837|121/278||,A|synonymous_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000402438|protein_coding|6/10|c.363C>T|p.Gly121Gly|547/1050|363/837|121/278||,A|synonymous_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000438270|protein_coding|5/6|c.363C>T|p.Gly121Gly|596/675|363/442|121/146||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|CYB5R3|ENSG00000100243|domain:FAD-binding_FR-type|ENST00000352397|protein_coding|4/9|c.432C>T||||||,A|sequence_feature|LOW|CYB5R3|ENSG00000100243|domain:FAD-binding_FR-type|ENST00000352397|protein_coding|5/9|c.432C>T||||||,A|sequence_feature|LOW|CYB5R3|ENSG00000100243|domain:FAD-binding_FR-type|ENST00000352397|protein_coding|2/9|c.432C>T||||||,A|sequence_feature|LOW|CYB5R3|ENSG00000100243|domain:FAD-binding_FR-type|ENST00000352397|protein_coding|3/9|c.432C>T||||||,A|sequence_feature|LOW|CYB5R3|ENSG00000100243|nucleotide_phosphate-binding_region:FAD|ENST00000352397|protein_coding|5/9|c.432C>T||||||,A|sequence_feature|LOW|CYB5R3|ENSG00000100243|beta_strand|ENST00000352397|protein_coding|5/9|c.432C>T||||||,A|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000466276|retained_intron||n.*581C>T|||||2858|,A|non_coding_exon_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000470741|retained_intron|2/6|n.2566C>T|||||| 22 43024214 . A G . . ANN=G|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000361740|protein_coding|5/9|c.506T>C|p.Ile169Thr|506/2938|506/1005|169/334||,G|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000396303|protein_coding|5/9|c.338T>C|p.Ile113Thr|490/2922|338/837|113/278||,G|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000352397|protein_coding|5/9|c.407T>C|p.Ile136Thr|660/2124|407/906|136/301||,G|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000407623|protein_coding|5/9|c.338T>C|p.Ile113Thr|723/2153|338/837|113/278||,G|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000407332|protein_coding|4/8|c.338T>C|p.Ile113Thr|430/1849|338/837|113/278||,G|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000402438|protein_coding|6/10|c.338T>C|p.Ile113Thr|522/1050|338/837|113/278||,G|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000438270|protein_coding|5/6|c.338T>C|p.Ile113Thr|571/675|338/442|113/146||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|CYB5R3|ENSG00000100243|domain:FAD-binding_FR-type|ENST00000352397|protein_coding|4/9|c.407T>C||||||,G|sequence_feature|LOW|CYB5R3|ENSG00000100243|domain:FAD-binding_FR-type|ENST00000352397|protein_coding|5/9|c.407T>C||||||,G|sequence_feature|LOW|CYB5R3|ENSG00000100243|domain:FAD-binding_FR-type|ENST00000352397|protein_coding|2/9|c.407T>C||||||,G|sequence_feature|LOW|CYB5R3|ENSG00000100243|domain:FAD-binding_FR-type|ENST00000352397|protein_coding|3/9|c.407T>C||||||,G|sequence_feature|LOW|CYB5R3|ENSG00000100243|nucleotide_phosphate-binding_region:FAD|ENST00000352397|protein_coding|5/9|c.407T>C||||||,G|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000466276|retained_intron||n.*581T>C|||||2833|,G|non_coding_exon_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000470741|retained_intron|2/6|n.2541T>C|||||| 22 43024271 . G C . . ANN=C|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000361740|protein_coding|5/9|c.449C>G|p.Thr150Ser|449/2938|449/1005|150/334||,C|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000396303|protein_coding|5/9|c.281C>G|p.Thr94Ser|433/2922|281/837|94/278||,C|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000352397|protein_coding|5/9|c.350C>G|p.Thr117Ser|603/2124|350/906|117/301||,C|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000407623|protein_coding|5/9|c.281C>G|p.Thr94Ser|666/2153|281/837|94/278||,C|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000407332|protein_coding|4/8|c.281C>G|p.Thr94Ser|373/1849|281/837|94/278||,C|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000402438|protein_coding|6/10|c.281C>G|p.Thr94Ser|465/1050|281/837|94/278||,C|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000438270|protein_coding|5/6|c.281C>G|p.Thr94Ser|514/675|281/442|94/146||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|CYB5R3|ENSG00000100243|domain:FAD-binding_FR-type|ENST00000352397|protein_coding|4/9|c.350C>G||||||,C|sequence_feature|LOW|CYB5R3|ENSG00000100243|domain:FAD-binding_FR-type|ENST00000352397|protein_coding|5/9|c.350C>G||||||,C|sequence_feature|LOW|CYB5R3|ENSG00000100243|domain:FAD-binding_FR-type|ENST00000352397|protein_coding|2/9|c.350C>G||||||,C|sequence_feature|LOW|CYB5R3|ENSG00000100243|domain:FAD-binding_FR-type|ENST00000352397|protein_coding|3/9|c.350C>G||||||,C|sequence_feature|LOW|CYB5R3|ENSG00000100243|beta_strand|ENST00000352397|protein_coding|5/9|c.350C>G||||||,C|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000466276|retained_intron||n.*581C>G|||||2776|,C|non_coding_exon_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000470741|retained_intron|2/6|n.2484C>G|||||| 22 43024318 . C T . . ANN=T|sequence_feature|LOW|CYB5R3|ENSG00000100243|domain:FAD-binding_FR-type|ENST00000352397|protein_coding|4/9|c.334-31G>A||||||,T|sequence_feature|LOW|CYB5R3|ENSG00000100243|domain:FAD-binding_FR-type|ENST00000352397|protein_coding|5/9|c.334-31G>A||||||,T|sequence_feature|LOW|CYB5R3|ENSG00000100243|domain:FAD-binding_FR-type|ENST00000352397|protein_coding|2/9|c.334-31G>A||||||,T|sequence_feature|LOW|CYB5R3|ENSG00000100243|domain:FAD-binding_FR-type|ENST00000352397|protein_coding|3/9|c.334-31G>A||||||,T|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000466276|retained_intron||n.*581G>A|||||2729|,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000361740|protein_coding|4/8|c.433-31G>A||||||,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000396303|protein_coding|4/8|c.265-31G>A||||||,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000352397|protein_coding|4/8|c.334-31G>A||||||,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000407623|protein_coding|4/8|c.265-31G>A||||||,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000407332|protein_coding|3/7|c.265-31G>A||||||,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000470741|retained_intron|1/5|n.2468-31G>A||||||,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000402438|protein_coding|5/9|c.265-31G>A||||||,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000438270|protein_coding|4/5|c.265-31G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 43026905 . C T . . ANN=T|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000361740|protein_coding|4/9|c.415G>A|p.Val139Met|415/2938|415/1005|139/334||,T|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000396303|protein_coding|4/9|c.247G>A|p.Val83Met|399/2922|247/837|83/278||,T|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000352397|protein_coding|4/9|c.316G>A|p.Val106Met|569/2124|316/906|106/301||,T|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000407623|protein_coding|4/9|c.247G>A|p.Val83Met|632/2153|247/837|83/278||,T|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000407332|protein_coding|3/8|c.247G>A|p.Val83Met|339/1849|247/837|83/278||,T|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000402438|protein_coding|5/10|c.247G>A|p.Val83Met|431/1050|247/837|83/278||,T|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000438270|protein_coding|4/6|c.247G>A|p.Val83Met|480/675|247/442|83/146||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|CYB5R3|ENSG00000100243|domain:FAD-binding_FR-type|ENST00000352397|protein_coding|4/9|c.316G>A||||||,T|sequence_feature|LOW|CYB5R3|ENSG00000100243|domain:FAD-binding_FR-type|ENST00000352397|protein_coding|5/9|c.316G>A||||||,T|sequence_feature|LOW|CYB5R3|ENSG00000100243|domain:FAD-binding_FR-type|ENST00000352397|protein_coding|2/9|c.316G>A||||||,T|sequence_feature|LOW|CYB5R3|ENSG00000100243|domain:FAD-binding_FR-type|ENST00000352397|protein_coding|3/9|c.316G>A||||||,T|sequence_feature|LOW|CYB5R3|ENSG00000100243|beta_strand|ENST00000352397|protein_coding|4/9|c.316G>A||||||,T|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000466276|retained_intron||n.*581G>A|||||142|,T|non_coding_exon_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000470741|retained_intron|1/6|n.2450G>A|||||| 22 43026908 . A C . . ANN=C|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000361740|protein_coding|4/9|c.412T>G|p.Phe138Val|412/2938|412/1005|138/334||,C|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000396303|protein_coding|4/9|c.244T>G|p.Phe82Val|396/2922|244/837|82/278||,C|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000352397|protein_coding|4/9|c.313T>G|p.Phe105Val|566/2124|313/906|105/301||,C|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000407623|protein_coding|4/9|c.244T>G|p.Phe82Val|629/2153|244/837|82/278||,C|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000407332|protein_coding|3/8|c.244T>G|p.Phe82Val|336/1849|244/837|82/278||,C|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000402438|protein_coding|5/10|c.244T>G|p.Phe82Val|428/1050|244/837|82/278||,C|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000438270|protein_coding|4/6|c.244T>G|p.Phe82Val|477/675|244/442|82/146||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|CYB5R3|ENSG00000100243|domain:FAD-binding_FR-type|ENST00000352397|protein_coding|4/9|c.313T>G||||||,C|sequence_feature|LOW|CYB5R3|ENSG00000100243|domain:FAD-binding_FR-type|ENST00000352397|protein_coding|5/9|c.313T>G||||||,C|sequence_feature|LOW|CYB5R3|ENSG00000100243|domain:FAD-binding_FR-type|ENST00000352397|protein_coding|2/9|c.313T>G||||||,C|sequence_feature|LOW|CYB5R3|ENSG00000100243|domain:FAD-binding_FR-type|ENST00000352397|protein_coding|3/9|c.313T>G||||||,C|sequence_feature|LOW|CYB5R3|ENSG00000100243|beta_strand|ENST00000352397|protein_coding|4/9|c.313T>G||||||,C|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000466276|retained_intron||n.*581T>G|||||139|,C|non_coding_exon_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000470741|retained_intron|1/6|n.2447T>G|||||| 22 43026924 . G A . . ANN=A|synonymous_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000361740|protein_coding|4/9|c.396C>T|p.Ser132Ser|396/2938|396/1005|132/334||,A|synonymous_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000396303|protein_coding|4/9|c.228C>T|p.Ser76Ser|380/2922|228/837|76/278||,A|synonymous_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000352397|protein_coding|4/9|c.297C>T|p.Ser99Ser|550/2124|297/906|99/301||,A|synonymous_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000407623|protein_coding|4/9|c.228C>T|p.Ser76Ser|613/2153|228/837|76/278||,A|synonymous_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000407332|protein_coding|3/8|c.228C>T|p.Ser76Ser|320/1849|228/837|76/278||,A|synonymous_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000402438|protein_coding|5/10|c.228C>T|p.Ser76Ser|412/1050|228/837|76/278||,A|synonymous_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000438270|protein_coding|4/6|c.228C>T|p.Ser76Ser|461/675|228/442|76/146||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|CYB5R3|ENSG00000100243|domain:FAD-binding_FR-type|ENST00000352397|protein_coding|4/9|c.297C>T||||||,A|sequence_feature|LOW|CYB5R3|ENSG00000100243|domain:FAD-binding_FR-type|ENST00000352397|protein_coding|5/9|c.297C>T||||||,A|sequence_feature|LOW|CYB5R3|ENSG00000100243|domain:FAD-binding_FR-type|ENST00000352397|protein_coding|2/9|c.297C>T||||||,A|sequence_feature|LOW|CYB5R3|ENSG00000100243|domain:FAD-binding_FR-type|ENST00000352397|protein_coding|3/9|c.297C>T||||||,A|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000466276|retained_intron||n.*581C>T|||||123|,A|non_coding_exon_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000470741|retained_intron|1/6|n.2431C>T|||||| 22 43027000 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000361740|protein_coding|3/8|c.326-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000396303|protein_coding|3/8|c.158-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000352397|protein_coding|3/8|c.227-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000407623|protein_coding|3/8|c.158-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000407332|protein_coding|2/7|c.158-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000402438|protein_coding|4/9|c.158-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000438270|protein_coding|3/5|c.158-6C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|CYB5R3|ENSG00000100243|domain:FAD-binding_FR-type|ENST00000352397|protein_coding|4/9|c.227-6C>T||||||,A|sequence_feature|LOW|CYB5R3|ENSG00000100243|domain:FAD-binding_FR-type|ENST00000352397|protein_coding|5/9|c.227-6C>T||||||,A|sequence_feature|LOW|CYB5R3|ENSG00000100243|domain:FAD-binding_FR-type|ENST00000352397|protein_coding|2/9|c.227-6C>T||||||,A|sequence_feature|LOW|CYB5R3|ENSG00000100243|domain:FAD-binding_FR-type|ENST00000352397|protein_coding|3/9|c.227-6C>T||||||,A|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000466276|retained_intron||n.*581C>T|||||47|,A|non_coding_exon_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000470741|retained_intron|1/6|n.2355C>T|||||| 22 43027356 . G A . . ANN=A|sequence_feature|LOW|CYB5R3|ENSG00000100243|domain:FAD-binding_FR-type|ENST00000352397|protein_coding|4/9|c.226+28C>T||||||,A|sequence_feature|LOW|CYB5R3|ENSG00000100243|domain:FAD-binding_FR-type|ENST00000352397|protein_coding|5/9|c.226+28C>T||||||,A|sequence_feature|LOW|CYB5R3|ENSG00000100243|domain:FAD-binding_FR-type|ENST00000352397|protein_coding|2/9|c.226+28C>T||||||,A|sequence_feature|LOW|CYB5R3|ENSG00000100243|domain:FAD-binding_FR-type|ENST00000352397|protein_coding|3/9|c.226+28C>T||||||,A|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000361740|protein_coding|3/8|c.325+28C>T||||||,A|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000396303|protein_coding|3/8|c.157+28C>T||||||,A|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000352397|protein_coding|3/8|c.226+28C>T||||||,A|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000407623|protein_coding|3/8|c.157+28C>T||||||,A|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000407332|protein_coding|2/7|c.157+28C>T||||||,A|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000402438|protein_coding|4/9|c.157+28C>T||||||,A|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000438270|protein_coding|3/5|c.157+28C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000470741|retained_intron|1/6|n.1999C>T||||||,A|non_coding_exon_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000466276|retained_intron|3/3|n.272C>T|||||| 22 43032742 . C T . . ANN=T|synonymous_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000361740|protein_coding|2/9|c.231G>A|p.Pro77Pro|231/2938|231/1005|77/334||,T|synonymous_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000396303|protein_coding|2/9|c.63G>A|p.Pro21Pro|215/2922|63/837|21/278||,T|synonymous_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000352397|protein_coding|2/9|c.132G>A|p.Pro44Pro|385/2124|132/906|44/301||,T|synonymous_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000407623|protein_coding|2/9|c.63G>A|p.Pro21Pro|448/2153|63/837|21/278||,T|synonymous_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000407332|protein_coding|1/8|c.63G>A|p.Pro21Pro|155/1849|63/837|21/278||,T|synonymous_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000402438|protein_coding|3/10|c.63G>A|p.Pro21Pro|247/1050|63/837|21/278||,T|synonymous_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000438270|protein_coding|2/6|c.63G>A|p.Pro21Pro|296/675|63/442|21/146||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|CYB5R3|ENSG00000100243|domain:FAD-binding_FR-type|ENST00000352397|protein_coding|4/9|c.132G>A||||||,T|sequence_feature|LOW|CYB5R3|ENSG00000100243|domain:FAD-binding_FR-type|ENST00000352397|protein_coding|5/9|c.132G>A||||||,T|sequence_feature|LOW|CYB5R3|ENSG00000100243|domain:FAD-binding_FR-type|ENST00000352397|protein_coding|2/9|c.132G>A||||||,T|sequence_feature|LOW|CYB5R3|ENSG00000100243|domain:FAD-binding_FR-type|ENST00000352397|protein_coding|3/9|c.132G>A||||||,T|sequence_feature|LOW|CYB5R3|ENSG00000100243|beta_strand|ENST00000352397|protein_coding|2/9|c.132G>A||||||,T|sequence_feature|LOW|CYB5R3|ENSG00000100243|beta_strand|ENST00000352397|protein_coding|3/9|c.132G>A||||||,T|upstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000470741|retained_intron||n.-1G>A|||||3388|,T|downstream_gene_variant|MODIFIER|ATP5L2|ENSG00000249222|transcript|ENST00000505920|protein_coding||c.*630G>A|||||3067|,T|non_coding_exon_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000466276|retained_intron|2/3|n.150G>A|||||| 22 43032757 . C T . . ANN=T|synonymous_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000361740|protein_coding|2/9|c.216G>A|p.Pro72Pro|216/2938|216/1005|72/334||,T|synonymous_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000396303|protein_coding|2/9|c.48G>A|p.Pro16Pro|200/2922|48/837|16/278||,T|synonymous_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000352397|protein_coding|2/9|c.117G>A|p.Pro39Pro|370/2124|117/906|39/301||,T|synonymous_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000407623|protein_coding|2/9|c.48G>A|p.Pro16Pro|433/2153|48/837|16/278||,T|synonymous_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000407332|protein_coding|1/8|c.48G>A|p.Pro16Pro|140/1849|48/837|16/278||,T|synonymous_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000402438|protein_coding|3/10|c.48G>A|p.Pro16Pro|232/1050|48/837|16/278||,T|synonymous_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000438270|protein_coding|2/6|c.48G>A|p.Pro16Pro|281/675|48/442|16/146||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000470741|retained_intron||n.-1G>A|||||3403|,T|downstream_gene_variant|MODIFIER|ATP5L2|ENSG00000249222|transcript|ENST00000505920|protein_coding||c.*630G>A|||||3052|,T|non_coding_exon_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000466276|retained_intron|2/3|n.135G>A|||||| 22 43032829 . T C . . ANN=C|synonymous_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000361740|protein_coding|2/9|c.144A>G|p.Pro48Pro|144/2938|144/1005|48/334||,C|synonymous_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000352397|protein_coding|2/9|c.45A>G|p.Pro15Pro|298/2124|45/906|15/301||,C|5_prime_UTR_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000396303|protein_coding|2/9|c.-25A>G|||||25|,C|5_prime_UTR_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000407623|protein_coding|2/9|c.-25A>G|||||25|,C|5_prime_UTR_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000407332|protein_coding|1/8|c.-25A>G|||||25|,C|5_prime_UTR_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000402438|protein_coding|3/10|c.-25A>G|||||25|,C|5_prime_UTR_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000438270|protein_coding|2/6|c.-25A>G|||||25|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000470741|retained_intron||n.-1A>G|||||3475|,C|downstream_gene_variant|MODIFIER|ATP5L2|ENSG00000249222|transcript|ENST00000505920|protein_coding||c.*630A>G|||||2980|,C|non_coding_exon_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000466276|retained_intron|2/3|n.63A>G|||||| 22 43032843 . T C . . ANN=C|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000361740|protein_coding|2/9|c.130A>G|p.Met44Val|130/2938|130/1005|44/334||,C|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000352397|protein_coding|2/9|c.31A>G|p.Met11Val|284/2124|31/906|11/301||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000396303|protein_coding|2/9|c.-39A>G||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000407623|protein_coding|2/9|c.-39A>G||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000407332|protein_coding|1/8|c.-39A>G||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000402438|protein_coding|3/10|c.-39A>G||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000438270|protein_coding|2/6|c.-39A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|5_prime_UTR_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000396303|protein_coding|2/9|c.-39A>G|||||39|,C|5_prime_UTR_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000407623|protein_coding|2/9|c.-39A>G|||||39|,C|5_prime_UTR_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000407332|protein_coding|1/8|c.-39A>G|||||39|,C|5_prime_UTR_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000402438|protein_coding|3/10|c.-39A>G|||||39|,C|5_prime_UTR_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000438270|protein_coding|2/6|c.-39A>G|||||39|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000470741|retained_intron||n.-1A>G|||||3489|,C|downstream_gene_variant|MODIFIER|ATP5L2|ENSG00000249222|transcript|ENST00000505920|protein_coding||c.*630A>G|||||2966|,C|non_coding_exon_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000466276|retained_intron|2/3|n.49A>G|||||| 22 43032870 . G T . . ANN=T|5_prime_UTR_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000407332|protein_coding|1/8|c.-66C>A|||||66|,T|upstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000470741|retained_intron||n.-1C>A|||||3516|,T|downstream_gene_variant|MODIFIER|ATP5L2|ENSG00000249222|transcript|ENST00000505920|protein_coding||c.*630C>A|||||2939|,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000361740|protein_coding|1/8|c.121-18C>A||||||,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000396303|protein_coding|1/8|c.-48-18C>A||||||,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000352397|protein_coding|1/8|c.22-18C>A||||||,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000407623|protein_coding|1/8|c.-48-18C>A||||||,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000402438|protein_coding|2/9|c.-48-18C>A||||||,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000438270|protein_coding|1/5|c.-48-18C>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000466276|retained_intron|1/2|n.40-18C>A|||||| 22 43088856 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000249005|protein_coding|2/2|c.*40G>A|||||40|,T|3_prime_UTR_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000401850|protein_coding|2/2|c.*40G>A|||||40|,T|3_prime_UTR_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000381278|protein_coding|2/2|c.*40G>A|||||40|,T|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000483026|processed_transcript||n.*515G>A|||||1121|,T|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000465765|processed_transcript||n.*595G>A|||||2321| 22 43088890 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000249005|protein_coding|2/2|c.*6C>T|||||6|,A|3_prime_UTR_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000401850|protein_coding|2/2|c.*6C>T|||||6|,A|3_prime_UTR_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000381278|protein_coding|2/2|c.*6C>T|||||6|,A|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000483026|processed_transcript||n.*515C>T|||||1087|,A|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000465765|processed_transcript||n.*595C>T|||||2287| 22 43088902 . G A . . ANN=A|synonymous_variant|LOW|A4GALT|ENSG00000128274|transcript|ENST00000249005|protein_coding|2/2|c.1056C>T|p.Tyr352Tyr|1245/2020|1056/1062|352/353||,A|synonymous_variant|LOW|A4GALT|ENSG00000128274|transcript|ENST00000401850|protein_coding|2/2|c.1056C>T|p.Tyr352Tyr|1546/2321|1056/1062|352/353||,A|synonymous_variant|LOW|A4GALT|ENSG00000128274|transcript|ENST00000381278|protein_coding|2/2|c.1056C>T|p.Tyr352Tyr|1161/1935|1056/1062|352/353||,A|sequence_feature|LOW|A4GALT|ENSG00000128274|topological_domain:Lumenal|ENST00000381278|protein_coding|2/2|c.1056C>T||||||,A|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000483026|processed_transcript||n.*515C>T|||||1075|,A|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000465765|processed_transcript||n.*595C>T|||||2275| 22 43088928 . T TG . . ANN=G|frameshift_variant|HIGH|A4GALT|ENSG00000128274|transcript|ENST00000249005|protein_coding|2/2|c.1029dupC|p.Thr344fs|1218/2020|1029/1062|343/353||,G|frameshift_variant|HIGH|A4GALT|ENSG00000128274|transcript|ENST00000401850|protein_coding|2/2|c.1029dupC|p.Thr344fs|1519/2321|1029/1062|343/353||,G|frameshift_variant|HIGH|A4GALT|ENSG00000128274|transcript|ENST00000381278|protein_coding|2/2|c.1029dupC|p.Thr344fs|1134/1935|1029/1062|343/353||,G|sequence_feature|LOW|A4GALT|ENSG00000128274|topological_domain:Lumenal|ENST00000381278|protein_coding|2/2|c.1029dupC||||||,G|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000483026|processed_transcript||n.*515dupC|||||1048|,G|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000465765|processed_transcript||n.*595dupC|||||2248| 22 43088971 . C T . . ANN=T|synonymous_variant|LOW|A4GALT|ENSG00000128274|transcript|ENST00000249005|protein_coding|2/2|c.987G>A|p.Thr329Thr|1176/2020|987/1062|329/353||,T|synonymous_variant|LOW|A4GALT|ENSG00000128274|transcript|ENST00000401850|protein_coding|2/2|c.987G>A|p.Thr329Thr|1477/2321|987/1062|329/353||,T|synonymous_variant|LOW|A4GALT|ENSG00000128274|transcript|ENST00000381278|protein_coding|2/2|c.987G>A|p.Thr329Thr|1092/1935|987/1062|329/353||,T|sequence_feature|LOW|A4GALT|ENSG00000128274|topological_domain:Lumenal|ENST00000381278|protein_coding|2/2|c.987G>A||||||,T|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000483026|processed_transcript||n.*515G>A|||||1006|,T|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000465765|processed_transcript||n.*595G>A|||||2206| 22 43089044 . G A . . ANN=A|missense_variant|MODERATE|A4GALT|ENSG00000128274|transcript|ENST00000249005|protein_coding|2/2|c.914C>T|p.Pro305Leu|1103/2020|914/1062|305/353||,A|missense_variant|MODERATE|A4GALT|ENSG00000128274|transcript|ENST00000401850|protein_coding|2/2|c.914C>T|p.Pro305Leu|1404/2321|914/1062|305/353||,A|missense_variant|MODERATE|A4GALT|ENSG00000128274|transcript|ENST00000381278|protein_coding|2/2|c.914C>T|p.Pro305Leu|1019/1935|914/1062|305/353||,A|sequence_feature|LOW|A4GALT|ENSG00000128274|topological_domain:Lumenal|ENST00000381278|protein_coding|2/2|c.914C>T||||||,A|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000483026|processed_transcript||n.*515C>T|||||933|,A|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000465765|processed_transcript||n.*595C>T|||||2133| 22 43089055 . G C . . ANN=C|synonymous_variant|LOW|A4GALT|ENSG00000128274|transcript|ENST00000249005|protein_coding|2/2|c.903C>G|p.Pro301Pro|1092/2020|903/1062|301/353||,C|synonymous_variant|LOW|A4GALT|ENSG00000128274|transcript|ENST00000401850|protein_coding|2/2|c.903C>G|p.Pro301Pro|1393/2321|903/1062|301/353||,C|synonymous_variant|LOW|A4GALT|ENSG00000128274|transcript|ENST00000381278|protein_coding|2/2|c.903C>G|p.Pro301Pro|1008/1935|903/1062|301/353||,C|sequence_feature|LOW|A4GALT|ENSG00000128274|topological_domain:Lumenal|ENST00000381278|protein_coding|2/2|c.903C>G||||||,C|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000483026|processed_transcript||n.*515C>G|||||922|,C|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000465765|processed_transcript||n.*595C>G|||||2122| 22 43089066 . C A . . ANN=A|missense_variant|MODERATE|A4GALT|ENSG00000128274|transcript|ENST00000249005|protein_coding|2/2|c.892G>T|p.Asp298Tyr|1081/2020|892/1062|298/353||,A|missense_variant|MODERATE|A4GALT|ENSG00000128274|transcript|ENST00000401850|protein_coding|2/2|c.892G>T|p.Asp298Tyr|1382/2321|892/1062|298/353||,A|missense_variant|MODERATE|A4GALT|ENSG00000128274|transcript|ENST00000381278|protein_coding|2/2|c.892G>T|p.Asp298Tyr|997/1935|892/1062|298/353||,A|sequence_feature|LOW|A4GALT|ENSG00000128274|topological_domain:Lumenal|ENST00000381278|protein_coding|2/2|c.892G>T||||||,A|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000483026|processed_transcript||n.*515G>T|||||911|,A|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000465765|processed_transcript||n.*595G>T|||||2111| 22 43089109 . G A . . ANN=A|synonymous_variant|LOW|A4GALT|ENSG00000128274|transcript|ENST00000249005|protein_coding|2/2|c.849C>T|p.Ala283Ala|1038/2020|849/1062|283/353||,A|synonymous_variant|LOW|A4GALT|ENSG00000128274|transcript|ENST00000401850|protein_coding|2/2|c.849C>T|p.Ala283Ala|1339/2321|849/1062|283/353||,A|synonymous_variant|LOW|A4GALT|ENSG00000128274|transcript|ENST00000381278|protein_coding|2/2|c.849C>T|p.Ala283Ala|954/1935|849/1062|283/353||,A|sequence_feature|LOW|A4GALT|ENSG00000128274|topological_domain:Lumenal|ENST00000381278|protein_coding|2/2|c.849C>T||||||,A|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000483026|processed_transcript||n.*515C>T|||||868|,A|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000465765|processed_transcript||n.*595C>T|||||2068| 22 43089281 . C T . . ANN=T|missense_variant|MODERATE|A4GALT|ENSG00000128274|transcript|ENST00000249005|protein_coding|2/2|c.677G>A|p.Arg226Gln|866/2020|677/1062|226/353||,T|missense_variant|MODERATE|A4GALT|ENSG00000128274|transcript|ENST00000401850|protein_coding|2/2|c.677G>A|p.Arg226Gln|1167/2321|677/1062|226/353||,T|missense_variant|MODERATE|A4GALT|ENSG00000128274|transcript|ENST00000381278|protein_coding|2/2|c.677G>A|p.Arg226Gln|782/1935|677/1062|226/353||,T|sequence_feature|LOW|A4GALT|ENSG00000128274|topological_domain:Lumenal|ENST00000381278|protein_coding|2/2|c.677G>A||||||,T|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000483026|processed_transcript||n.*515G>A|||||696|,T|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000465765|processed_transcript||n.*595G>A|||||1896| 22 43089289 . G A . . ANN=A|synonymous_variant|LOW|A4GALT|ENSG00000128274|transcript|ENST00000249005|protein_coding|2/2|c.669C>T|p.Phe223Phe|858/2020|669/1062|223/353||,A|synonymous_variant|LOW|A4GALT|ENSG00000128274|transcript|ENST00000401850|protein_coding|2/2|c.669C>T|p.Phe223Phe|1159/2321|669/1062|223/353||,A|synonymous_variant|LOW|A4GALT|ENSG00000128274|transcript|ENST00000381278|protein_coding|2/2|c.669C>T|p.Phe223Phe|774/1935|669/1062|223/353||,A|sequence_feature|LOW|A4GALT|ENSG00000128274|topological_domain:Lumenal|ENST00000381278|protein_coding|2/2|c.669C>T||||||,A|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000483026|processed_transcript||n.*515C>T|||||688|,A|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000465765|processed_transcript||n.*595C>T|||||1888| 22 43089400 . G A . . ANN=A|synonymous_variant|LOW|A4GALT|ENSG00000128274|transcript|ENST00000249005|protein_coding|2/2|c.558C>T|p.Phe186Phe|747/2020|558/1062|186/353||,A|synonymous_variant|LOW|A4GALT|ENSG00000128274|transcript|ENST00000401850|protein_coding|2/2|c.558C>T|p.Phe186Phe|1048/2321|558/1062|186/353||,A|synonymous_variant|LOW|A4GALT|ENSG00000128274|transcript|ENST00000381278|protein_coding|2/2|c.558C>T|p.Phe186Phe|663/1935|558/1062|186/353||,A|sequence_feature|LOW|A4GALT|ENSG00000128274|topological_domain:Lumenal|ENST00000381278|protein_coding|2/2|c.558C>T||||||,A|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000483026|processed_transcript||n.*515C>T|||||577|,A|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000465765|processed_transcript||n.*595C>T|||||1777| 22 43089464 . C T . . ANN=T|missense_variant|MODERATE|A4GALT|ENSG00000128274|transcript|ENST00000249005|protein_coding|2/2|c.494G>A|p.Arg165His|683/2020|494/1062|165/353||,T|missense_variant|MODERATE|A4GALT|ENSG00000128274|transcript|ENST00000401850|protein_coding|2/2|c.494G>A|p.Arg165His|984/2321|494/1062|165/353||,T|missense_variant|MODERATE|A4GALT|ENSG00000128274|transcript|ENST00000381278|protein_coding|2/2|c.494G>A|p.Arg165His|599/1935|494/1062|165/353||,T|sequence_feature|LOW|A4GALT|ENSG00000128274|topological_domain:Lumenal|ENST00000381278|protein_coding|2/2|c.494G>A||||||,T|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000483026|processed_transcript||n.*515G>A|||||513|,T|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000465765|processed_transcript||n.*595G>A|||||1713| 22 43089470 . T C . . ANN=C|missense_variant|MODERATE|A4GALT|ENSG00000128274|transcript|ENST00000249005|protein_coding|2/2|c.488A>G|p.Gln163Arg|677/2020|488/1062|163/353||,C|missense_variant|MODERATE|A4GALT|ENSG00000128274|transcript|ENST00000401850|protein_coding|2/2|c.488A>G|p.Gln163Arg|978/2321|488/1062|163/353||,C|missense_variant|MODERATE|A4GALT|ENSG00000128274|transcript|ENST00000381278|protein_coding|2/2|c.488A>G|p.Gln163Arg|593/1935|488/1062|163/353||,C|sequence_feature|LOW|A4GALT|ENSG00000128274|topological_domain:Lumenal|ENST00000381278|protein_coding|2/2|c.488A>G||||||,C|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000483026|processed_transcript||n.*515A>G|||||507|,C|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000465765|processed_transcript||n.*595A>G|||||1707| 22 43089517 . C T . . ANN=T|synonymous_variant|LOW|A4GALT|ENSG00000128274|transcript|ENST00000249005|protein_coding|2/2|c.441G>A|p.Arg147Arg|630/2020|441/1062|147/353||,T|synonymous_variant|LOW|A4GALT|ENSG00000128274|transcript|ENST00000401850|protein_coding|2/2|c.441G>A|p.Arg147Arg|931/2321|441/1062|147/353||,T|synonymous_variant|LOW|A4GALT|ENSG00000128274|transcript|ENST00000381278|protein_coding|2/2|c.441G>A|p.Arg147Arg|546/1935|441/1062|147/353||,T|sequence_feature|LOW|A4GALT|ENSG00000128274|topological_domain:Lumenal|ENST00000381278|protein_coding|2/2|c.441G>A||||||,T|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000483026|processed_transcript||n.*515G>A|||||460|,T|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000465765|processed_transcript||n.*595G>A|||||1660| 22 43089591 . A G . . ANN=G|missense_variant|MODERATE|A4GALT|ENSG00000128274|transcript|ENST00000249005|protein_coding|2/2|c.367T>C|p.Ser123Pro|556/2020|367/1062|123/353||,G|missense_variant|MODERATE|A4GALT|ENSG00000128274|transcript|ENST00000401850|protein_coding|2/2|c.367T>C|p.Ser123Pro|857/2321|367/1062|123/353||,G|missense_variant|MODERATE|A4GALT|ENSG00000128274|transcript|ENST00000381278|protein_coding|2/2|c.367T>C|p.Ser123Pro|472/1935|367/1062|123/353||,G|sequence_feature|LOW|A4GALT|ENSG00000128274|topological_domain:Lumenal|ENST00000381278|protein_coding|2/2|c.367T>C||||||,G|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000483026|processed_transcript||n.*515T>C|||||386|,G|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000465765|processed_transcript||n.*595T>C|||||1586| 22 43089658 . C G . . ANN=G|synonymous_variant|LOW|A4GALT|ENSG00000128274|transcript|ENST00000249005|protein_coding|2/2|c.300G>C|p.Ser100Ser|489/2020|300/1062|100/353||,G|synonymous_variant|LOW|A4GALT|ENSG00000128274|transcript|ENST00000401850|protein_coding|2/2|c.300G>C|p.Ser100Ser|790/2321|300/1062|100/353||,G|synonymous_variant|LOW|A4GALT|ENSG00000128274|transcript|ENST00000381278|protein_coding|2/2|c.300G>C|p.Ser100Ser|405/1935|300/1062|100/353||,G|sequence_feature|LOW|A4GALT|ENSG00000128274|topological_domain:Lumenal|ENST00000381278|protein_coding|2/2|c.300G>C||||||,G|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000483026|processed_transcript||n.*515G>C|||||319|,G|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000465765|processed_transcript||n.*595G>C|||||1519| 22 43089753 . G A . . ANN=A|missense_variant|MODERATE|A4GALT|ENSG00000128274|transcript|ENST00000249005|protein_coding|2/2|c.205C>T|p.Pro69Ser|394/2020|205/1062|69/353||,A|missense_variant|MODERATE|A4GALT|ENSG00000128274|transcript|ENST00000401850|protein_coding|2/2|c.205C>T|p.Pro69Ser|695/2321|205/1062|69/353||,A|missense_variant|MODERATE|A4GALT|ENSG00000128274|transcript|ENST00000381278|protein_coding|2/2|c.205C>T|p.Pro69Ser|310/1935|205/1062|69/353||,A|sequence_feature|LOW|A4GALT|ENSG00000128274|topological_domain:Lumenal|ENST00000381278|protein_coding|2/2|c.205C>T||||||,A|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000483026|processed_transcript||n.*515C>T|||||224|,A|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000465765|processed_transcript||n.*595C>T|||||1424| 22 43089757 . G C . . ANN=C|synonymous_variant|LOW|A4GALT|ENSG00000128274|transcript|ENST00000249005|protein_coding|2/2|c.201C>G|p.Pro67Pro|390/2020|201/1062|67/353||,C|synonymous_variant|LOW|A4GALT|ENSG00000128274|transcript|ENST00000401850|protein_coding|2/2|c.201C>G|p.Pro67Pro|691/2321|201/1062|67/353||,C|synonymous_variant|LOW|A4GALT|ENSG00000128274|transcript|ENST00000381278|protein_coding|2/2|c.201C>G|p.Pro67Pro|306/1935|201/1062|67/353||,C|sequence_feature|LOW|A4GALT|ENSG00000128274|topological_domain:Lumenal|ENST00000381278|protein_coding|2/2|c.201C>G||||||,C|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000483026|processed_transcript||n.*515C>G|||||220|,C|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000465765|processed_transcript||n.*595C>G|||||1420| 22 43089849 . T C . . ANN=C|missense_variant|MODERATE|A4GALT|ENSG00000128274|transcript|ENST00000249005|protein_coding|2/2|c.109A>G|p.Met37Val|298/2020|109/1062|37/353||,C|missense_variant|MODERATE|A4GALT|ENSG00000128274|transcript|ENST00000401850|protein_coding|2/2|c.109A>G|p.Met37Val|599/2321|109/1062|37/353||,C|missense_variant|MODERATE|A4GALT|ENSG00000128274|transcript|ENST00000381278|protein_coding|2/2|c.109A>G|p.Met37Val|214/1935|109/1062|37/353||,C|sequence_feature|LOW|A4GALT|ENSG00000128274|transmembrane_region:Transmembrane_region|ENST00000381278|protein_coding|2/2|c.109A>G||||||,C|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000483026|processed_transcript||n.*515A>G|||||128|,C|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000465765|processed_transcript||n.*595A>G|||||1328| 22 43089858 . C T . . ANN=T|missense_variant|MODERATE|A4GALT|ENSG00000128274|transcript|ENST00000249005|protein_coding|2/2|c.100G>A|p.Val34Ile|289/2020|100/1062|34/353||,T|missense_variant|MODERATE|A4GALT|ENSG00000128274|transcript|ENST00000401850|protein_coding|2/2|c.100G>A|p.Val34Ile|590/2321|100/1062|34/353||,T|missense_variant|MODERATE|A4GALT|ENSG00000128274|transcript|ENST00000381278|protein_coding|2/2|c.100G>A|p.Val34Ile|205/1935|100/1062|34/353||,T|sequence_feature|LOW|A4GALT|ENSG00000128274|transmembrane_region:Transmembrane_region|ENST00000381278|protein_coding|2/2|c.100G>A||||||,T|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000483026|processed_transcript||n.*515G>A|||||119|,T|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000465765|processed_transcript||n.*595G>A|||||1319| 22 43089997 . G A . . ANN=A|5_prime_UTR_premature_start_codon_gain_variant|LOW|A4GALT|ENSG00000128274|transcript|ENST00000249005|protein_coding|2/2|c.-40C>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|A4GALT|ENSG00000128274|transcript|ENST00000401850|protein_coding|2/2|c.-40C>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|A4GALT|ENSG00000128274|transcript|ENST00000381278|protein_coding|2/2|c.-40C>T||||||,A|5_prime_UTR_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000249005|protein_coding|2/2|c.-40C>T|||||40|,A|5_prime_UTR_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000401850|protein_coding|2/2|c.-40C>T|||||40|,A|5_prime_UTR_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000381278|protein_coding|2/2|c.-40C>T|||||40|,A|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000465765|processed_transcript||n.*595C>T|||||1180|,A|non_coding_exon_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000483026|processed_transcript|2/2|n.495C>T|||||| 22 43193576 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|16/16|c.*18G>A|||||18|,T|3_prime_UTR_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|14/14|c.*18G>A|||||18|,T|3_prime_UTR_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|15/15|c.*18G>A|||||18| 22 43193579 . A G . . ANN=G|3_prime_UTR_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|16/16|c.*15T>C|||||15|,G|3_prime_UTR_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|14/14|c.*15T>C|||||15|,G|3_prime_UTR_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|15/15|c.*15T>C|||||15| 22 43193590 . A G . . ANN=G|3_prime_UTR_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|16/16|c.*4T>C|||||4|,G|3_prime_UTR_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|14/14|c.*4T>C|||||4|,G|3_prime_UTR_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|15/15|c.*4T>C|||||4| 22 43193603 . G A . . ANN=A|synonymous_variant|LOW|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|16/16|c.1542C>T|p.Tyr514Tyr|1762/2857|1542/1551|514/516||,A|synonymous_variant|LOW|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|14/14|c.1326C>T|p.Tyr442Tyr|1412/1640|1326/1335|442/444||,A|synonymous_variant|LOW|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|15/15|c.1410C>T|p.Tyr470Tyr|1467/1650|1410/1419|470/472|| 22 43193641 . G A . . ANN=A|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|15/15|c.1534-30C>T||||||,A|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|13/13|c.1318-30C>T||||||,A|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|14/14|c.1402-30C>T|||||| 22 43195109 . T C . . ANN=C|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|15/16|c.1469A>G|p.Gln490Arg|1689/2857|1469/1551|490/516||,C|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|13/14|c.1253A>G|p.Gln418Arg|1339/1640|1253/1335|418/444||,C|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|14/15|c.1337A>G|p.Gln446Arg|1394/1650|1337/1419|446/472|| 22 43195114 . G C . . ANN=C|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|15/16|c.1464C>G|p.Phe488Leu|1684/2857|1464/1551|488/516||,C|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|13/14|c.1248C>G|p.Phe416Leu|1334/1640|1248/1335|416/444||,C|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|14/15|c.1332C>G|p.Phe444Leu|1389/1650|1332/1419|444/472|| 22 43195134 . C T . . ANN=T|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|15/16|c.1444G>A|p.Ala482Thr|1664/2857|1444/1551|482/516||,T|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|13/14|c.1228G>A|p.Ala410Thr|1314/1640|1228/1335|410/444||,T|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|14/15|c.1312G>A|p.Ala438Thr|1369/1650|1312/1419|438/472|| 22 43195147 . A G . . ANN=G|synonymous_variant|LOW|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|15/16|c.1431T>C|p.Ser477Ser|1651/2857|1431/1551|477/516||,G|synonymous_variant|LOW|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|13/14|c.1215T>C|p.Ser405Ser|1301/1640|1215/1335|405/444||,G|synonymous_variant|LOW|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|14/15|c.1299T>C|p.Ser433Ser|1356/1650|1299/1419|433/472|| 22 43195164 . T C . . ANN=C|missense_variant&splice_region_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|15/16|c.1414A>G|p.Asn472Asp|1634/2857|1414/1551|472/516||,C|missense_variant&splice_region_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|13/14|c.1198A>G|p.Asn400Asp|1284/1640|1198/1335|400/444||,C|missense_variant&splice_region_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|14/15|c.1282A>G|p.Asn428Asp|1339/1650|1282/1419|428/472|| 22 43195172 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|14/15|c.1412-6G>A||||||,T|splice_region_variant&intron_variant|LOW|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|12/13|c.1196-6G>A||||||,T|splice_region_variant&intron_variant|LOW|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|13/14|c.1280-6G>A|||||| 22 43195179 . A G . . ANN=G|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|14/15|c.1412-13T>C||||||,G|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|12/13|c.1196-13T>C||||||,G|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|13/14|c.1280-13T>C|||||| 22 43195194 . A T . . ANN=T|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|14/15|c.1412-28T>A||||||,T|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|12/13|c.1196-28T>A||||||,T|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|13/14|c.1280-28T>A|||||| 22 43203086 . C A . . ANN=A|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|14/16|c.1404G>T|p.Gln468His|1624/2857|1404/1551|468/516||,A|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|12/14|c.1188G>T|p.Gln396His|1274/1640|1188/1335|396/444||,A|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|13/15|c.1272G>T|p.Gln424His|1329/1650|1272/1419|424/472||,A|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000453516|protein_coding|8/8|c.810G>T|p.Gln270His|811/817|810/816|270/271||WARNING_TRANSCRIPT_NO_START_CODON 22 43203137 . C T . . ANN=T|synonymous_variant|LOW|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|14/16|c.1353G>A|p.Ser451Ser|1573/2857|1353/1551|451/516||,T|synonymous_variant|LOW|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|12/14|c.1137G>A|p.Ser379Ser|1223/1640|1137/1335|379/444||,T|synonymous_variant|LOW|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|13/15|c.1221G>A|p.Ser407Ser|1278/1650|1221/1419|407/472||,T|synonymous_variant|LOW|ARFGAP3|ENSG00000242247|transcript|ENST00000453516|protein_coding|8/8|c.759G>A|p.Ser253Ser|760/817|759/816|253/271||WARNING_TRANSCRIPT_NO_START_CODON 22 43203210 . T C . . ANN=C|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|13/15|c.1321-41A>G||||||,C|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|11/13|c.1105-41A>G||||||,C|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|12/14|c.1189-41A>G||||||,C|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000453516|protein_coding|7/7|c.727-41A>G||||||WARNING_TRANSCRIPT_NO_START_CODON 22 43204800 . C T . . ANN=T|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|13/16|c.1293G>A|p.Met431Ile|1513/2857|1293/1551|431/516||,T|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|11/14|c.1077G>A|p.Met359Ile|1163/1640|1077/1335|359/444||,T|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|12/15|c.1161G>A|p.Met387Ile|1218/1650|1161/1419|387/472||,T|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000453516|protein_coding|7/8|c.699G>A|p.Met233Ile|700/817|699/816|233/271||WARNING_TRANSCRIPT_NO_START_CODON 22 43204801 . A G . . ANN=G|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|13/16|c.1292T>C|p.Met431Thr|1512/2857|1292/1551|431/516||,G|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|11/14|c.1076T>C|p.Met359Thr|1162/1640|1076/1335|359/444||,G|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|12/15|c.1160T>C|p.Met387Thr|1217/1650|1160/1419|387/472||,G|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000453516|protein_coding|7/8|c.698T>C|p.Met233Thr|699/817|698/816|233/271||WARNING_TRANSCRIPT_NO_START_CODON 22 43204809 . T C . . ANN=C|synonymous_variant|LOW|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|13/16|c.1284A>G|p.Ser428Ser|1504/2857|1284/1551|428/516||,C|synonymous_variant|LOW|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|11/14|c.1068A>G|p.Ser356Ser|1154/1640|1068/1335|356/444||,C|synonymous_variant|LOW|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|12/15|c.1152A>G|p.Ser384Ser|1209/1650|1152/1419|384/472||,C|synonymous_variant|LOW|ARFGAP3|ENSG00000242247|transcript|ENST00000453516|protein_coding|7/8|c.690A>G|p.Ser230Ser|691/817|690/816|230/271||WARNING_TRANSCRIPT_NO_START_CODON 22 43204882 . C T . . ANN=T|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|13/16|c.1211G>A|p.Arg404His|1431/2857|1211/1551|404/516||,T|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|11/14|c.995G>A|p.Arg332His|1081/1640|995/1335|332/444||,T|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|12/15|c.1079G>A|p.Arg360His|1136/1650|1079/1419|360/472||,T|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000453516|protein_coding|7/8|c.617G>A|p.Arg206His|618/817|617/816|206/271||WARNING_TRANSCRIPT_NO_START_CODON 22 43206775 . A G . . ANN=G|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|12/15|c.1196+44T>C||||||,G|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|10/13|c.980+44T>C||||||,G|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|11/14|c.1064+44T>C||||||,G|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000453516|protein_coding|6/7|c.603-1879T>C||||||WARNING_TRANSCRIPT_NO_START_CODON 22 43206781 . G T . . ANN=T|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|12/15|c.1196+38C>A||||||,T|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|10/13|c.980+38C>A||||||,T|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|11/14|c.1064+38C>A||||||,T|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000453516|protein_coding|6/7|c.603-1885C>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 43206882 . T C . . ANN=C|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|12/16|c.1133A>G|p.Tyr378Cys|1353/2857|1133/1551|378/516||,C|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|10/14|c.917A>G|p.Tyr306Cys|1003/1640|917/1335|306/444||,C|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|11/15|c.1001A>G|p.Tyr334Cys|1058/1650|1001/1419|334/472||,C|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000453516|protein_coding|6/7|c.603-1986A>G||||||WARNING_TRANSCRIPT_NO_START_CODON 22 43206950 . A C . . ANN=C|missense_variant&splice_region_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|12/16|c.1065T>G|p.Ser355Arg|1285/2857|1065/1551|355/516||,C|missense_variant&splice_region_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|10/14|c.849T>G|p.Ser283Arg|935/1640|849/1335|283/444||,C|missense_variant&splice_region_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|11/15|c.933T>G|p.Ser311Arg|990/1650|933/1419|311/472||,C|sequence_feature|LOW|ARFGAP3|ENSG00000242247|compositionally_biased_region:Ser-rich|ENST00000263245|protein_coding|11/16|c.1065T>G||||||,C|sequence_feature|LOW|ARFGAP3|ENSG00000242247|compositionally_biased_region:Ser-rich|ENST00000263245|protein_coding|12/16|c.1065T>G||||||,C|sequence_feature|LOW|ARFGAP3|ENSG00000242247|compositionally_biased_region:Ser-rich|ENST00000437119|protein_coding|10/15|c.933T>G||||||,C|sequence_feature|LOW|ARFGAP3|ENSG00000242247|compositionally_biased_region:Ser-rich|ENST00000437119|protein_coding|11/15|c.933T>G||||||,C|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000453516|protein_coding|6/7|c.603-2054T>G||||||WARNING_TRANSCRIPT_NO_START_CODON 22 43213215 . T G . . ANN=G|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|11/16|c.997A>C|p.Ile333Leu|1217/2857|997/1551|333/516||,G|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|9/14|c.781A>C|p.Ile261Leu|867/1640|781/1335|261/444||,G|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|10/15|c.865A>C|p.Ile289Leu|922/1650|865/1419|289/472||,G|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000453516|protein_coding|6/8|c.535A>C|p.Ile179Leu|536/817|535/816|179/271||WARNING_TRANSCRIPT_NO_START_CODON 22 43213217 . G A . . ANN=A|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|11/16|c.995C>T|p.Pro332Leu|1215/2857|995/1551|332/516||,A|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|9/14|c.779C>T|p.Pro260Leu|865/1640|779/1335|260/444||,A|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|10/15|c.863C>T|p.Pro288Leu|920/1650|863/1419|288/472||,A|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000453516|protein_coding|6/8|c.533C>T|p.Pro178Leu|534/817|533/816|178/271||WARNING_TRANSCRIPT_NO_START_CODON 22 43213262 . G A . . ANN=A|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|11/16|c.950C>T|p.Ser317Leu|1170/2857|950/1551|317/516||,A|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|9/14|c.734C>T|p.Ser245Leu|820/1640|734/1335|245/444||,A|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|10/15|c.818C>T|p.Ser273Leu|875/1650|818/1419|273/472||,A|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000453516|protein_coding|6/8|c.488C>T|p.Ser163Leu|489/817|488/816|163/271||WARNING_TRANSCRIPT_NO_START_CODON 22 43213266 . T A . . ANN=A|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|11/16|c.946A>T|p.Ile316Phe|1166/2857|946/1551|316/516||,A|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|9/14|c.730A>T|p.Ile244Phe|816/1640|730/1335|244/444||,A|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|10/15|c.814A>T|p.Ile272Phe|871/1650|814/1419|272/472||,A|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000453516|protein_coding|6/8|c.484A>T|p.Ile162Phe|485/817|484/816|162/271||WARNING_TRANSCRIPT_NO_START_CODON 22 43213278 . A T . . ANN=T|splice_region_variant&intron_variant|LOW|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|10/15|c.942-8T>A||||||,T|splice_region_variant&intron_variant|LOW|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|8/13|c.726-8T>A||||||,T|splice_region_variant&intron_variant|LOW|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|9/14|c.810-8T>A||||||,T|splice_region_variant&intron_variant|LOW|ARFGAP3|ENSG00000242247|transcript|ENST00000453516|protein_coding|5/7|c.480-8T>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 43213761 . G A . . ANN=A|synonymous_variant|LOW|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|10/16|c.915C>T|p.Leu305Leu|1135/2857|915/1551|305/516||,A|synonymous_variant|LOW|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|8/14|c.699C>T|p.Leu233Leu|785/1640|699/1335|233/444||,A|synonymous_variant|LOW|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|9/15|c.783C>T|p.Leu261Leu|840/1650|783/1419|261/472||,A|synonymous_variant|LOW|ARFGAP3|ENSG00000242247|transcript|ENST00000453516|protein_coding|5/8|c.453C>T|p.Leu151Leu|454/817|453/816|151/271||WARNING_TRANSCRIPT_NO_START_CODON 22 43218227 . A G . . ANN=G|downstream_gene_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000454099|protein_coding||c.*542T>C|||||1435|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|9/15|c.812+49T>C||||||,G|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|7/13|c.596+49T>C||||||,G|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|8/14|c.680+49T>C||||||,G|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000453516|protein_coding|4/7|c.350+49T>C||||||WARNING_TRANSCRIPT_NO_START_CODON 22 43218254 . A G . . ANN=G|downstream_gene_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000454099|protein_coding||c.*542T>C|||||1408|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|9/15|c.812+22T>C||||||,G|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|7/13|c.596+22T>C||||||,G|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|8/14|c.680+22T>C||||||,G|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000453516|protein_coding|4/7|c.350+22T>C||||||WARNING_TRANSCRIPT_NO_START_CODON 22 43218397 . T C . . ANN=C|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|9/16|c.691A>G|p.Ser231Gly|911/2857|691/1551|231/516||,C|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|7/14|c.475A>G|p.Ser159Gly|561/1640|475/1335|159/444||,C|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|8/15|c.559A>G|p.Ser187Gly|616/1650|559/1419|187/472||,C|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000453516|protein_coding|4/8|c.229A>G|p.Ser77Gly|230/817|229/816|77/271||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|MODERATE|ARFGAP3|ENSG00000242247|amino_acid_modification:Phosphoserine|ENST00000263245|protein_coding|9/16|c.691A>G||||||,C|sequence_feature|MODERATE|ARFGAP3|ENSG00000242247|amino_acid_modification:Phosphoserine|ENST00000437119|protein_coding|8/15|c.559A>G||||||,C|downstream_gene_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000454099|protein_coding||c.*542A>G|||||1265|WARNING_TRANSCRIPT_NO_STOP_CODON 22 43218435 . A G . . ANN=G|downstream_gene_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000454099|protein_coding||c.*542T>C|||||1227|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|8/15|c.673-20T>C||||||,G|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|6/13|c.457-20T>C||||||,G|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|7/14|c.541-20T>C||||||,G|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000453516|protein_coding|3/7|c.211-20T>C||||||WARNING_TRANSCRIPT_NO_START_CODON 22 43218446 . G A . . ANN=A|downstream_gene_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000454099|protein_coding||c.*542C>T|||||1216|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|8/15|c.673-31C>T||||||,A|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|6/13|c.457-31C>T||||||,A|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|7/14|c.541-31C>T||||||,A|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000453516|protein_coding|3/7|c.211-31C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 43218463 . C T . . ANN=T|downstream_gene_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000454099|protein_coding||c.*542G>A|||||1199|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|8/15|c.673-48G>A||||||,T|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|6/13|c.457-48G>A||||||,T|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|7/14|c.541-48G>A||||||,T|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000453516|protein_coding|3/7|c.211-48G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 43219712 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|7/15|c.626-4G>A||||||,T|splice_region_variant&intron_variant|LOW|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|5/13|c.410-4G>A||||||,T|splice_region_variant&intron_variant|LOW|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|6/14|c.494-4G>A||||||,T|splice_region_variant&intron_variant|LOW|ARFGAP3|ENSG00000242247|transcript|ENST00000453516|protein_coding|2/7|c.164-4G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|splice_region_variant&intron_variant|LOW|ARFGAP3|ENSG00000242247|transcript|ENST00000454099|protein_coding|5/5|c.410-4G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 43222925 . G A . . ANN=A|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|7/15|c.625+21C>T||||||,A|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|5/13|c.409+21C>T||||||,A|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|6/14|c.493+21C>T||||||,A|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000453516|protein_coding|2/7|c.163+21C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000454099|protein_coding|5/5|c.409+21C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 43222927 . A G . . ANN=G|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|7/15|c.625+19T>C||||||,G|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|5/13|c.409+19T>C||||||,G|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|6/14|c.493+19T>C||||||,G|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000453516|protein_coding|2/7|c.163+19T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000454099|protein_coding|5/5|c.409+19T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 43223032 . C T . . ANN=T|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|6/15|c.566-27G>A||||||,T|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|4/13|c.350-27G>A||||||,T|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|5/14|c.434-27G>A||||||,T|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000453516|protein_coding|1/7|c.104-27G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000454099|protein_coding|4/5|c.350-27G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 43227519 . T C . . ANN=C|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000507586|nonsense_mediated_decay||n.*178A>G|||||3899|,C|downstream_gene_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000435208|protein_coding||c.*501A>G|||||3900|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|6/15|c.565+36A>G||||||,C|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|4/13|c.349+36A>G||||||,C|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|5/14|c.433+36A>G||||||,C|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000453516|protein_coding|1/7|c.103+36A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000454099|protein_coding|4/5|c.349+36A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 43227524 . T C . . ANN=C|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000507586|nonsense_mediated_decay||n.*178A>G|||||3894|,C|downstream_gene_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000435208|protein_coding||c.*501A>G|||||3895|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|6/15|c.565+31A>G||||||,C|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|4/13|c.349+31A>G||||||,C|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|5/14|c.433+31A>G||||||,C|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000453516|protein_coding|1/7|c.103+31A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000454099|protein_coding|4/5|c.349+31A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 43227529 . T C . . ANN=C|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000507586|nonsense_mediated_decay||n.*178A>G|||||3889|,C|downstream_gene_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000435208|protein_coding||c.*501A>G|||||3890|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|6/15|c.565+26A>G||||||,C|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|4/13|c.349+26A>G||||||,C|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|5/14|c.433+26A>G||||||,C|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000453516|protein_coding|1/7|c.103+26A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000454099|protein_coding|4/5|c.349+26A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 43227577 . T C . . ANN=C|synonymous_variant|LOW|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|6/16|c.543A>G|p.Glu181Glu|763/2857|543/1551|181/516||,C|synonymous_variant|LOW|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|4/14|c.327A>G|p.Glu109Glu|413/1640|327/1335|109/444||,C|synonymous_variant|LOW|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|5/15|c.411A>G|p.Glu137Glu|468/1650|411/1419|137/472||,C|synonymous_variant|LOW|ARFGAP3|ENSG00000242247|transcript|ENST00000453516|protein_coding|1/8|c.81A>G|p.Glu27Glu|82/817|81/816|27/271||WARNING_TRANSCRIPT_NO_START_CODON,C|synonymous_variant|LOW|ARFGAP3|ENSG00000242247|transcript|ENST00000454099|protein_coding|4/6|c.327A>G|p.Glu109Glu|413/542|327/456|109/151||WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000507586|nonsense_mediated_decay||n.*178A>G|||||3841|,C|downstream_gene_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000435208|protein_coding||c.*501A>G|||||3842|WARNING_TRANSCRIPT_NO_STOP_CODON 22 43227592 . T C . . ANN=C|synonymous_variant|LOW|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|6/16|c.528A>G|p.Thr176Thr|748/2857|528/1551|176/516||,C|synonymous_variant|LOW|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|4/14|c.312A>G|p.Thr104Thr|398/1640|312/1335|104/444||,C|synonymous_variant|LOW|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|5/15|c.396A>G|p.Thr132Thr|453/1650|396/1419|132/472||,C|synonymous_variant|LOW|ARFGAP3|ENSG00000242247|transcript|ENST00000453516|protein_coding|1/8|c.66A>G|p.Thr22Thr|67/817|66/816|22/271||WARNING_TRANSCRIPT_NO_START_CODON,C|synonymous_variant|LOW|ARFGAP3|ENSG00000242247|transcript|ENST00000454099|protein_coding|4/6|c.312A>G|p.Thr104Thr|398/542|312/456|104/151||WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000507586|nonsense_mediated_decay||n.*178A>G|||||3826|,C|downstream_gene_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000435208|protein_coding||c.*501A>G|||||3827|WARNING_TRANSCRIPT_NO_STOP_CODON 22 43227654 . C T . . ANN=T|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000453516|protein_coding|1/8|c.4G>A|p.Ala2Thr|5/817|4/816|2/271||WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000507586|nonsense_mediated_decay||n.*178G>A|||||3764|,T|downstream_gene_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000435208|protein_coding||c.*501G>A|||||3765|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|5/15|c.478-12G>A||||||,T|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|3/13|c.262-12G>A||||||,T|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|4/14|c.346-12G>A||||||,T|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000454099|protein_coding|3/5|c.262-12G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 43230224 . AATGATGTGAAGCATAAT A . . ANN=|splice_region_variant&intron_variant|LOW|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|5/15|c.477+7_477+23delATTATGCTTCACATCAT||||||,|splice_region_variant&intron_variant|LOW|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|4/14|c.345+7_345+23delATTATGCTTCACATCAT||||||,|upstream_gene_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000453516|protein_coding||c.-2_-2delATTATGCTTCACATCAT|||||2567|WARNING_TRANSCRIPT_NO_START_CODON,|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000507586|nonsense_mediated_decay||n.*178_*178delATTATGCTTCACATCAT|||||1193|,|downstream_gene_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000435208|protein_coding||c.*501_*501delATTATGCTTCACATCAT|||||1194|WARNING_TRANSCRIPT_NO_STOP_CODON,|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|3/13|c.262-2599_262-2583delATTATGCTTCACATCAT||||||,|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000454099|protein_coding|3/5|c.262-2599_262-2583delATTATGCTTCACATCAT||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 43230229 . T C . . ANN=C|upstream_gene_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000453516|protein_coding||c.-2A>G|||||2571|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000507586|nonsense_mediated_decay||n.*178A>G|||||1189|,C|downstream_gene_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000435208|protein_coding||c.*501A>G|||||1190|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|5/15|c.477+19A>G||||||,C|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|3/13|c.262-2587A>G||||||,C|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|4/14|c.345+19A>G||||||,C|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000454099|protein_coding|3/5|c.262-2587A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 43230266 . G A . . ANN=A|synonymous_variant|LOW|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|5/16|c.459C>T|p.Ala153Ala|679/2857|459/1551|153/516||,A|synonymous_variant|LOW|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|4/15|c.327C>T|p.Ala109Ala|384/1650|327/1419|109/472||,A|upstream_gene_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000453516|protein_coding||c.-2C>T|||||2608|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000507586|nonsense_mediated_decay||n.*178C>T|||||1152|,A|downstream_gene_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000435208|protein_coding||c.*501C>T|||||1153|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|3/13|c.262-2624C>T||||||,A|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000454099|protein_coding|3/5|c.262-2624C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 43230278 . T C . . ANN=C|synonymous_variant|LOW|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|5/16|c.447A>G|p.Glu149Glu|667/2857|447/1551|149/516||,C|synonymous_variant|LOW|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|4/15|c.315A>G|p.Glu105Glu|372/1650|315/1419|105/472||,C|upstream_gene_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000453516|protein_coding||c.-2A>G|||||2620|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000507586|nonsense_mediated_decay||n.*178A>G|||||1140|,C|downstream_gene_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000435208|protein_coding||c.*501A>G|||||1141|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|3/13|c.262-2636A>G||||||,C|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000454099|protein_coding|3/5|c.262-2636A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 43231360 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|4/15|c.393+8A>G||||||,C|upstream_gene_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000453516|protein_coding||c.-2A>G|||||3702|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000507586|nonsense_mediated_decay||n.*178A>G|||||58|,C|downstream_gene_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000435208|protein_coding||c.*501A>G|||||59|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|3/13|c.262-3718A>G||||||,C|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|3/14|c.262-1029A>G||||||,C|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000454099|protein_coding|3/5|c.262-3718A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 43231515 . T C . . ANN=C|sequence_feature|LOW|ARFGAP3|ENSG00000242247|domain:Arf-GAP|ENST00000263245|protein_coding|3/16|c.262-16A>G||||||,C|sequence_feature|LOW|ARFGAP3|ENSG00000242247|domain:Arf-GAP|ENST00000263245|protein_coding|4/16|c.262-16A>G||||||,C|sequence_feature|LOW|ARFGAP3|ENSG00000242247|domain:Arf-GAP|ENST00000263245|protein_coding|2/16|c.262-16A>G||||||,C|sequence_feature|LOW|ARFGAP3|ENSG00000242247|domain:Arf-GAP|ENST00000263245|protein_coding|1/16|c.262-16A>G||||||,C|sequence_feature|LOW|ARFGAP3|ENSG00000242247|helix|ENST00000263245|protein_coding|3/16|c.262-16A>G||||||,C|sequence_feature|LOW|ARFGAP3|ENSG00000242247|helix|ENST00000263245|protein_coding|4/16|c.262-16A>G||||||,C|upstream_gene_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000453516|protein_coding||c.-2A>G|||||3857|WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|3/15|c.262-16A>G||||||,C|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|3/13|c.262-3873A>G||||||,C|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|3/14|c.262-1184A>G||||||,C|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000454099|protein_coding|3/5|c.262-3873A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000507586|nonsense_mediated_decay|3/3|n.*103-16A>G||||||,C|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000435208|protein_coding|3/3|c.196-16A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 43231532 . G C . . ANN=C|sequence_feature|LOW|ARFGAP3|ENSG00000242247|domain:Arf-GAP|ENST00000263245|protein_coding|3/16|c.262-33C>G||||||,C|sequence_feature|LOW|ARFGAP3|ENSG00000242247|domain:Arf-GAP|ENST00000263245|protein_coding|4/16|c.262-33C>G||||||,C|sequence_feature|LOW|ARFGAP3|ENSG00000242247|domain:Arf-GAP|ENST00000263245|protein_coding|2/16|c.262-33C>G||||||,C|sequence_feature|LOW|ARFGAP3|ENSG00000242247|domain:Arf-GAP|ENST00000263245|protein_coding|1/16|c.262-33C>G||||||,C|sequence_feature|LOW|ARFGAP3|ENSG00000242247|helix|ENST00000263245|protein_coding|3/16|c.262-33C>G||||||,C|sequence_feature|LOW|ARFGAP3|ENSG00000242247|helix|ENST00000263245|protein_coding|4/16|c.262-33C>G||||||,C|upstream_gene_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000453516|protein_coding||c.-2C>G|||||3874|WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|3/15|c.262-33C>G||||||,C|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|3/13|c.262-3890C>G||||||,C|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|3/14|c.262-1201C>G||||||,C|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000454099|protein_coding|3/5|c.262-3890C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000507586|nonsense_mediated_decay|3/3|n.*103-33C>G||||||,C|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000435208|protein_coding|3/3|c.196-33C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 43231541 . C T . . ANN=T|sequence_feature|LOW|ARFGAP3|ENSG00000242247|domain:Arf-GAP|ENST00000263245|protein_coding|3/16|c.262-42G>A||||||,T|sequence_feature|LOW|ARFGAP3|ENSG00000242247|domain:Arf-GAP|ENST00000263245|protein_coding|4/16|c.262-42G>A||||||,T|sequence_feature|LOW|ARFGAP3|ENSG00000242247|domain:Arf-GAP|ENST00000263245|protein_coding|2/16|c.262-42G>A||||||,T|sequence_feature|LOW|ARFGAP3|ENSG00000242247|domain:Arf-GAP|ENST00000263245|protein_coding|1/16|c.262-42G>A||||||,T|sequence_feature|LOW|ARFGAP3|ENSG00000242247|helix|ENST00000263245|protein_coding|3/16|c.262-42G>A||||||,T|sequence_feature|LOW|ARFGAP3|ENSG00000242247|helix|ENST00000263245|protein_coding|4/16|c.262-42G>A||||||,T|upstream_gene_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000453516|protein_coding||c.-2G>A|||||3883|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|3/15|c.262-42G>A||||||,T|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|3/13|c.262-3899G>A||||||,T|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|3/14|c.262-1210G>A||||||,T|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000454099|protein_coding|3/5|c.262-3899G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000507586|nonsense_mediated_decay|3/3|n.*103-42G>A||||||,T|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000435208|protein_coding|3/3|c.196-42G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 43237072 . C A . . ANN=A|sequence_feature|LOW|ARFGAP3|ENSG00000242247|domain:Arf-GAP|ENST00000263245|protein_coding|3/16|c.189-50G>T||||||,A|sequence_feature|LOW|ARFGAP3|ENSG00000242247|domain:Arf-GAP|ENST00000263245|protein_coding|4/16|c.189-50G>T||||||,A|sequence_feature|LOW|ARFGAP3|ENSG00000242247|domain:Arf-GAP|ENST00000263245|protein_coding|2/16|c.189-50G>T||||||,A|sequence_feature|LOW|ARFGAP3|ENSG00000242247|domain:Arf-GAP|ENST00000263245|protein_coding|1/16|c.189-50G>T||||||,A|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|2/15|c.189-50G>T||||||,A|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|2/13|c.189-50G>T||||||,A|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|2/14|c.189-50G>T||||||,A|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000454099|protein_coding|2/5|c.189-50G>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000507586|nonsense_mediated_decay|2/3|n.*30-50G>T||||||,A|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000435208|protein_coding|2/3|c.123-50G>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 43243552 . G A . . ANN=A|synonymous_variant|LOW|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|2/16|c.156C>T|p.His52His|376/2857|156/1551|52/516||,A|synonymous_variant|LOW|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|2/14|c.156C>T|p.His52His|242/1640|156/1335|52/444||,A|synonymous_variant|LOW|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|2/15|c.156C>T|p.His52His|213/1650|156/1419|52/472||,A|synonymous_variant|LOW|ARFGAP3|ENSG00000242247|transcript|ENST00000454099|protein_coding|2/6|c.156C>T|p.His52His|242/542|156/456|52/151||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|ARFGAP3|ENSG00000242247|transcript|ENST00000435208|protein_coding|2/4|c.90C>T|p.His30His|315/501|90/276|30/91||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|ARFGAP3|ENSG00000242247|domain:Arf-GAP|ENST00000263245|protein_coding|3/16|c.156C>T||||||,A|sequence_feature|LOW|ARFGAP3|ENSG00000242247|domain:Arf-GAP|ENST00000263245|protein_coding|4/16|c.156C>T||||||,A|sequence_feature|LOW|ARFGAP3|ENSG00000242247|domain:Arf-GAP|ENST00000263245|protein_coding|2/16|c.156C>T||||||,A|sequence_feature|LOW|ARFGAP3|ENSG00000242247|domain:Arf-GAP|ENST00000263245|protein_coding|1/16|c.156C>T||||||,A|sequence_feature|LOW|ARFGAP3|ENSG00000242247|helix|ENST00000263245|protein_coding|2/16|c.156C>T||||||,A|sequence_feature|LOW|ARFGAP3|ENSG00000242247|helix|ENST00000437119|protein_coding|2/15|c.156C>T||||||,A|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000507586|nonsense_mediated_decay|2/3|n.*30-6530C>T||||||,A|non_coding_exon_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000493606|retained_intron|2/2|n.268C>T|||||| 22 43253126 . A C . . ANN=C|synonymous_variant|LOW|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|1/16|c.63T>G|p.Thr21Thr|283/2857|63/1551|21/516||,C|synonymous_variant|LOW|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|1/14|c.63T>G|p.Thr21Thr|149/1640|63/1335|21/444||,C|synonymous_variant|LOW|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|1/15|c.63T>G|p.Thr21Thr|120/1650|63/1419|21/472||,C|synonymous_variant|LOW|ARFGAP3|ENSG00000242247|transcript|ENST00000454099|protein_coding|1/6|c.63T>G|p.Thr21Thr|149/542|63/456|21/151||WARNING_TRANSCRIPT_NO_STOP_CODON,C|sequence_feature|LOW|ARFGAP3|ENSG00000242247|domain:Arf-GAP|ENST00000263245|protein_coding|3/16|c.63T>G||||||,C|sequence_feature|LOW|ARFGAP3|ENSG00000242247|domain:Arf-GAP|ENST00000263245|protein_coding|4/16|c.63T>G||||||,C|sequence_feature|LOW|ARFGAP3|ENSG00000242247|domain:Arf-GAP|ENST00000263245|protein_coding|2/16|c.63T>G||||||,C|sequence_feature|LOW|ARFGAP3|ENSG00000242247|domain:Arf-GAP|ENST00000263245|protein_coding|1/16|c.63T>G||||||,C|sequence_feature|LOW|ARFGAP3|ENSG00000242247|turn|ENST00000263245|protein_coding|1/16|c.63T>G||||||,C|sequence_feature|LOW|ARFGAP3|ENSG00000242247|turn|ENST00000437119|protein_coding|1/15|c.63T>G||||||,C|upstream_gene_variant|MODIFIER|AL049758.2|ENSG00000226989|transcript|ENST00000423154|processed_pseudogene||n.-1T>G|||||3321|,C|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000507586|nonsense_mediated_decay|2/3|n.*29+1267T>G||||||,C|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000435208|protein_coding|1/3|c.3+759T>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|non_coding_exon_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000493606|retained_intron|1/2|n.175T>G|||||| 22 43253204 . G A,C,T . . ANN=A|5_prime_UTR_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|1/16|c.-16C>T|||||16|,C|5_prime_UTR_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|1/16|c.-16C>G|||||16|,T|5_prime_UTR_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|1/16|c.-16C>A|||||16|,A|5_prime_UTR_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|1/14|c.-16C>T|||||16|,C|5_prime_UTR_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|1/14|c.-16C>G|||||16|,T|5_prime_UTR_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|1/14|c.-16C>A|||||16|,A|5_prime_UTR_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|1/15|c.-16C>T|||||16|,C|5_prime_UTR_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|1/15|c.-16C>G|||||16|,T|5_prime_UTR_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|1/15|c.-16C>A|||||16|,A|5_prime_UTR_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000454099|protein_coding|1/6|c.-16C>T|||||16|WARNING_TRANSCRIPT_NO_STOP_CODON,C|5_prime_UTR_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000454099|protein_coding|1/6|c.-16C>G|||||16|WARNING_TRANSCRIPT_NO_STOP_CODON,T|5_prime_UTR_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000454099|protein_coding|1/6|c.-16C>A|||||16|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|AL049758.2|ENSG00000226989|transcript|ENST00000423154|processed_pseudogene||n.-1C>T|||||3399|,C|upstream_gene_variant|MODIFIER|AL049758.2|ENSG00000226989|transcript|ENST00000423154|processed_pseudogene||n.-1C>G|||||3399|,T|upstream_gene_variant|MODIFIER|AL049758.2|ENSG00000226989|transcript|ENST00000423154|processed_pseudogene||n.-1C>A|||||3399|,A|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000507586|nonsense_mediated_decay|2/3|n.*29+1189C>T||||||,C|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000507586|nonsense_mediated_decay|2/3|n.*29+1189C>G||||||,T|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000507586|nonsense_mediated_decay|2/3|n.*29+1189C>A||||||,A|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000435208|protein_coding|1/3|c.3+681C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000435208|protein_coding|1/3|c.3+681C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000435208|protein_coding|1/3|c.3+681C>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000493606|retained_intron|1/2|n.97C>T||||||,C|non_coding_exon_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000493606|retained_intron|1/2|n.97C>G||||||,T|non_coding_exon_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000493606|retained_intron|1/2|n.97C>A|||||| 22 43267326 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000263246|protein_coding|11/11|c.*37C>T|||||37|,A|3_prime_UTR_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000337959|protein_coding|10/10|c.*37C>T|||||37|,A|3_prime_UTR_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000407585|protein_coding|10/10|c.*37C>T|||||37|,A|3_prime_UTR_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000403744|protein_coding|11/11|c.*37C>T|||||37|,A|3_prime_UTR_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000402229|protein_coding|11/11|c.*37C>T|||||37|,A|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000507586|nonsense_mediated_decay|1/3|n.70+4817C>T|||||| 22 43267328 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000263246|protein_coding|11/11|c.*35G>A|||||35|,T|3_prime_UTR_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000337959|protein_coding|10/10|c.*35G>A|||||35|,T|3_prime_UTR_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000407585|protein_coding|10/10|c.*35G>A|||||35|,T|3_prime_UTR_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000403744|protein_coding|11/11|c.*35G>A|||||35|,T|3_prime_UTR_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000402229|protein_coding|11/11|c.*35G>A|||||35|,T|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000507586|nonsense_mediated_decay|1/3|n.70+4815G>A|||||| 22 43267336 . T TC . . ANN=C|3_prime_UTR_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000263246|protein_coding|11/11|c.*26dupG|||||26|,C|3_prime_UTR_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000337959|protein_coding|10/10|c.*26dupG|||||26|,C|3_prime_UTR_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000407585|protein_coding|10/10|c.*26dupG|||||26|,C|3_prime_UTR_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000403744|protein_coding|11/11|c.*26dupG|||||26|,C|3_prime_UTR_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000402229|protein_coding|11/11|c.*26dupG|||||26|,C|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000507586|nonsense_mediated_decay|1/3|n.70+4806dupG|||||| 22 43267356 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000263246|protein_coding|11/11|c.*7G>A|||||7|,T|3_prime_UTR_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000337959|protein_coding|10/10|c.*7G>A|||||7|,T|3_prime_UTR_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000407585|protein_coding|10/10|c.*7G>A|||||7|,T|3_prime_UTR_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000403744|protein_coding|11/11|c.*7G>A|||||7|,T|3_prime_UTR_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000402229|protein_coding|11/11|c.*7G>A|||||7|,T|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000507586|nonsense_mediated_decay|1/3|n.70+4787G>A|||||| 22 43267405 . T C . . ANN=C|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000263246|protein_coding|11/11|c.1419A>G|p.Gln473Gln|1621/3249|1419/1461|473/486||,C|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000337959|protein_coding|10/10|c.1296A>G|p.Gln432Gln|1498/3126|1296/1338|432/445||,C|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000407585|protein_coding|10/10|c.1296A>G|p.Gln432Gln|1456/3080|1296/1338|432/445||,C|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000403744|protein_coding|11/11|c.1419A>G|p.Gln473Gln|1641/2110|1419/1461|473/486||,C|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000402229|protein_coding|11/11|c.1419A>G|p.Gln473Gln|1612/1883|1419/1461|473/486||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|domain:SH3|ENST00000407585|protein_coding|9/10|c.1296A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|domain:SH3|ENST00000407585|protein_coding|10/10|c.1296A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|domain:SH3|ENST00000402229|protein_coding|11/11|c.1419A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|domain:SH3|ENST00000402229|protein_coding|10/11|c.1419A>G||||||,C|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000507586|nonsense_mediated_decay|1/3|n.70+4738A>G|||||| 22 43267515 . A G . . ANN=G|sequence_feature|LOW|PACSIN2|ENSG00000100266|domain:SH3|ENST00000407585|protein_coding|9/10|c.1226-40T>C||||||,G|sequence_feature|LOW|PACSIN2|ENSG00000100266|domain:SH3|ENST00000407585|protein_coding|10/10|c.1226-40T>C||||||,G|sequence_feature|LOW|PACSIN2|ENSG00000100266|domain:SH3|ENST00000402229|protein_coding|11/11|c.1349-40T>C||||||,G|sequence_feature|LOW|PACSIN2|ENSG00000100266|domain:SH3|ENST00000402229|protein_coding|10/11|c.1349-40T>C||||||,G|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000263246|protein_coding|10/10|c.1349-40T>C||||||,G|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000507586|nonsense_mediated_decay|1/3|n.70+4628T>C||||||,G|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000337959|protein_coding|9/9|c.1226-40T>C||||||,G|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000407585|protein_coding|9/9|c.1226-40T>C||||||,G|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000403744|protein_coding|10/10|c.1349-40T>C||||||,G|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000402229|protein_coding|10/10|c.1349-40T>C|||||| 22 43267522 . C T . . ANN=T|sequence_feature|LOW|PACSIN2|ENSG00000100266|domain:SH3|ENST00000407585|protein_coding|9/10|c.1226-47G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|domain:SH3|ENST00000407585|protein_coding|10/10|c.1226-47G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|domain:SH3|ENST00000402229|protein_coding|11/11|c.1349-47G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|domain:SH3|ENST00000402229|protein_coding|10/11|c.1349-47G>A||||||,T|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000263246|protein_coding|10/10|c.1349-47G>A||||||,T|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000507586|nonsense_mediated_decay|1/3|n.70+4621G>A||||||,T|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000337959|protein_coding|9/9|c.1226-47G>A||||||,T|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000407585|protein_coding|9/9|c.1226-47G>A||||||,T|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000403744|protein_coding|10/10|c.1349-47G>A||||||,T|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000402229|protein_coding|10/10|c.1349-47G>A|||||| 22 43272108 . C A . . ANN=A|sequence_feature|LOW|PACSIN2|ENSG00000100266|domain:SH3|ENST00000407585|protein_coding|9/10|c.1225+35G>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|domain:SH3|ENST00000407585|protein_coding|10/10|c.1225+35G>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|domain:SH3|ENST00000402229|protein_coding|11/11|c.1348+35G>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|domain:SH3|ENST00000402229|protein_coding|10/11|c.1348+35G>T||||||,A|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000263246|protein_coding|10/10|c.1348+35G>T||||||,A|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000507586|nonsense_mediated_decay|1/3|n.70+35G>T||||||,A|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000337959|protein_coding|9/9|c.1225+35G>T||||||,A|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000407585|protein_coding|9/9|c.1225+35G>T||||||,A|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000403744|protein_coding|10/10|c.1348+35G>T||||||,A|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000402229|protein_coding|10/10|c.1348+35G>T|||||| 22 43272116 . C T . . ANN=T|sequence_feature|LOW|PACSIN2|ENSG00000100266|domain:SH3|ENST00000407585|protein_coding|9/10|c.1225+27G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|domain:SH3|ENST00000407585|protein_coding|10/10|c.1225+27G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|domain:SH3|ENST00000402229|protein_coding|11/11|c.1348+27G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|domain:SH3|ENST00000402229|protein_coding|10/11|c.1348+27G>A||||||,T|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000263246|protein_coding|10/10|c.1348+27G>A||||||,T|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000507586|nonsense_mediated_decay|1/3|n.70+27G>A||||||,T|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000337959|protein_coding|9/9|c.1225+27G>A||||||,T|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000407585|protein_coding|9/9|c.1225+27G>A||||||,T|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000403744|protein_coding|10/10|c.1348+27G>A||||||,T|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000402229|protein_coding|10/10|c.1348+27G>A|||||| 22 43272195 . C G . . ANN=G|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000263246|protein_coding|10/11|c.1296G>C|p.Arg432Arg|1498/3249|1296/1461|432/486||,G|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000337959|protein_coding|9/10|c.1173G>C|p.Arg391Arg|1375/3126|1173/1338|391/445||,G|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000407585|protein_coding|9/10|c.1173G>C|p.Arg391Arg|1333/3080|1173/1338|391/445||,G|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000403744|protein_coding|10/11|c.1296G>C|p.Arg432Arg|1518/2110|1296/1461|432/486||,G|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000402229|protein_coding|10/11|c.1296G>C|p.Arg432Arg|1489/1883|1296/1461|432/486||,G|sequence_feature|LOW|PACSIN2|ENSG00000100266|domain:SH3|ENST00000407585|protein_coding|9/10|c.1173G>C||||||,G|sequence_feature|LOW|PACSIN2|ENSG00000100266|domain:SH3|ENST00000407585|protein_coding|10/10|c.1173G>C||||||,G|sequence_feature|LOW|PACSIN2|ENSG00000100266|domain:SH3|ENST00000402229|protein_coding|11/11|c.1296G>C||||||,G|sequence_feature|LOW|PACSIN2|ENSG00000100266|domain:SH3|ENST00000402229|protein_coding|10/11|c.1296G>C||||||,G|non_coding_exon_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000507586|nonsense_mediated_decay|1/4|n.18G>C|||||| 22 43272283 . G A . . ANN=A|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000263246|protein_coding|10/11|c.1208C>T|p.Ser403Phe|1410/3249|1208/1461|403/486||,A|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000337959|protein_coding|9/10|c.1085C>T|p.Ser362Phe|1287/3126|1085/1338|362/445||,A|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000407585|protein_coding|9/10|c.1085C>T|p.Ser362Phe|1245/3080|1085/1338|362/445||,A|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000403744|protein_coding|10/11|c.1208C>T|p.Ser403Phe|1430/2110|1208/1461|403/486||,A|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000402229|protein_coding|10/11|c.1208C>T|p.Ser403Phe|1401/1883|1208/1461|403/486||,A|upstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000507586|nonsense_mediated_decay||n.-2C>T|||||70| 22 43272291 . G A . . ANN=A|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000263246|protein_coding|10/11|c.1200C>T|p.Asp400Asp|1402/3249|1200/1461|400/486||,A|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000337959|protein_coding|9/10|c.1077C>T|p.Asp359Asp|1279/3126|1077/1338|359/445||,A|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000407585|protein_coding|9/10|c.1077C>T|p.Asp359Asp|1237/3080|1077/1338|359/445||,A|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000403744|protein_coding|10/11|c.1200C>T|p.Asp400Asp|1422/2110|1200/1461|400/486||,A|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000402229|protein_coding|10/11|c.1200C>T|p.Asp400Asp|1393/1883|1200/1461|400/486||,A|upstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000507586|nonsense_mediated_decay||n.-2C>T|||||78| 22 43272384 . G A . . ANN=A|upstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000507586|nonsense_mediated_decay||n.-2C>T|||||171|,A|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000263246|protein_coding|9/10|c.1152-45C>T||||||,A|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000337959|protein_coding|8/9|c.1029-45C>T||||||,A|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000407585|protein_coding|8/9|c.1029-45C>T||||||,A|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000403744|protein_coding|9/10|c.1152-45C>T||||||,A|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000402229|protein_coding|9/10|c.1152-45C>T|||||| 22 43272854 . G C . . ANN=C|upstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000507586|nonsense_mediated_decay||n.-2C>G|||||641|,C|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000263246|protein_coding|9/10|c.1151+40C>G||||||,C|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000337959|protein_coding|8/9|c.1029-515C>G||||||,C|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000407585|protein_coding|8/9|c.1029-515C>G||||||,C|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000403744|protein_coding|9/10|c.1151+40C>G||||||,C|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000402229|protein_coding|9/10|c.1151+40C>G|||||| 22 43272856 . G A . . ANN=A|upstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000507586|nonsense_mediated_decay||n.-2C>T|||||643|,A|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000263246|protein_coding|9/10|c.1151+38C>T||||||,A|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000337959|protein_coding|8/9|c.1029-517C>T||||||,A|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000407585|protein_coding|8/9|c.1029-517C>T||||||,A|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000403744|protein_coding|9/10|c.1151+38C>T||||||,A|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000402229|protein_coding|9/10|c.1151+38C>T|||||| 22 43272982 . C T . . ANN=T|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000263246|protein_coding|9/11|c.1063G>A|p.Ala355Thr|1265/3249|1063/1461|355/486||,T|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000403744|protein_coding|9/11|c.1063G>A|p.Ala355Thr|1285/2110|1063/1461|355/486||,T|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000402229|protein_coding|9/11|c.1063G>A|p.Ala355Thr|1256/1883|1063/1461|355/486||,T|upstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000507586|nonsense_mediated_decay||n.-2G>A|||||769|,T|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000337959|protein_coding|8/9|c.1029-643G>A||||||,T|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000407585|protein_coding|8/9|c.1029-643G>A|||||| 22 43273063 . C A . . ANN=A|upstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000507586|nonsense_mediated_decay||n.-2G>T|||||850|,A|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000263246|protein_coding|8/10|c.1029-47G>T||||||,A|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000337959|protein_coding|8/9|c.1029-724G>T||||||,A|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000407585|protein_coding|8/9|c.1029-724G>T||||||,A|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000403744|protein_coding|8/10|c.1029-47G>T||||||,A|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000402229|protein_coding|8/10|c.1029-47G>T|||||| 22 43275010 . C T . . ANN=T|upstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000507586|nonsense_mediated_decay||n.-2G>A|||||2797|,T|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000263246|protein_coding|8/10|c.1028+44G>A||||||,T|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000337959|protein_coding|8/9|c.1028+44G>A||||||,T|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000407585|protein_coding|8/9|c.1028+44G>A||||||,T|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000403744|protein_coding|8/10|c.1028+44G>A||||||,T|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000402229|protein_coding|8/10|c.1028+44G>A|||||| 22 43275082 . C T . . ANN=T|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000263246|protein_coding|8/11|c.1000G>A|p.Asp334Asn|1202/3249|1000/1461|334/486||,T|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000337959|protein_coding|8/10|c.1000G>A|p.Asp334Asn|1202/3126|1000/1338|334/445||,T|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000407585|protein_coding|8/10|c.1000G>A|p.Asp334Asn|1160/3080|1000/1338|334/445||,T|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000403744|protein_coding|8/11|c.1000G>A|p.Asp334Asn|1222/2110|1000/1461|334/486||,T|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000402229|protein_coding|8/11|c.1000G>A|p.Asp334Asn|1193/1883|1000/1461|334/486||,T|upstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000507586|nonsense_mediated_decay||n.-2G>A|||||2869| 22 43275083 . G A . . ANN=A|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000263246|protein_coding|8/11|c.999C>T|p.Gly333Gly|1201/3249|999/1461|333/486||,A|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000337959|protein_coding|8/10|c.999C>T|p.Gly333Gly|1201/3126|999/1338|333/445||,A|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000407585|protein_coding|8/10|c.999C>T|p.Gly333Gly|1159/3080|999/1338|333/445||,A|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000403744|protein_coding|8/11|c.999C>T|p.Gly333Gly|1221/2110|999/1461|333/486||,A|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000402229|protein_coding|8/11|c.999C>T|p.Gly333Gly|1192/1883|999/1461|333/486||,A|upstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000507586|nonsense_mediated_decay||n.-2C>T|||||2870| 22 43275113 . G A . . ANN=A|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000263246|protein_coding|8/11|c.969C>T|p.Gly323Gly|1171/3249|969/1461|323/486||,A|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000337959|protein_coding|8/10|c.969C>T|p.Gly323Gly|1171/3126|969/1338|323/445||,A|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000407585|protein_coding|8/10|c.969C>T|p.Gly323Gly|1129/3080|969/1338|323/445||,A|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000403744|protein_coding|8/11|c.969C>T|p.Gly323Gly|1191/2110|969/1461|323/486||,A|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000402229|protein_coding|8/11|c.969C>T|p.Gly323Gly|1162/1883|969/1461|323/486||,A|upstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000507586|nonsense_mediated_decay||n.-2C>T|||||2900| 22 43278148 . C T . . ANN=T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|2/10|c.906+42G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|4/10|c.906+42G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|5/10|c.906+42G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|3/10|c.906+42G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|6/10|c.906+42G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|7/10|c.906+42G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|8/10|c.906+42G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|2/11|c.906+42G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|4/11|c.906+42G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|5/11|c.906+42G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|3/11|c.906+42G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|6/11|c.906+42G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|7/11|c.906+42G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|8/11|c.906+42G>A||||||,T|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000263246|protein_coding|7/10|c.906+42G>A||||||,T|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000337959|protein_coding|7/9|c.906+42G>A||||||,T|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000407585|protein_coding|7/9|c.906+42G>A||||||,T|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000403744|protein_coding|7/10|c.906+42G>A||||||,T|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000402229|protein_coding|7/10|c.906+42G>A|||||| 22 43278162 . T C . . ANN=C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|2/10|c.906+28A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|4/10|c.906+28A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|5/10|c.906+28A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|3/10|c.906+28A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|6/10|c.906+28A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|7/10|c.906+28A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|8/10|c.906+28A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|2/11|c.906+28A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|4/11|c.906+28A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|5/11|c.906+28A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|3/11|c.906+28A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|6/11|c.906+28A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|7/11|c.906+28A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|8/11|c.906+28A>G||||||,C|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000263246|protein_coding|7/10|c.906+28A>G||||||,C|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000337959|protein_coding|7/9|c.906+28A>G||||||,C|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000407585|protein_coding|7/9|c.906+28A>G||||||,C|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000403744|protein_coding|7/10|c.906+28A>G||||||,C|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000402229|protein_coding|7/10|c.906+28A>G|||||| 22 43278180 . C T . . ANN=T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|2/10|c.906+10G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|4/10|c.906+10G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|5/10|c.906+10G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|3/10|c.906+10G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|6/10|c.906+10G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|7/10|c.906+10G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|8/10|c.906+10G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|2/11|c.906+10G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|4/11|c.906+10G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|5/11|c.906+10G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|3/11|c.906+10G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|6/11|c.906+10G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|7/11|c.906+10G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|8/11|c.906+10G>A||||||,T|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000263246|protein_coding|7/10|c.906+10G>A||||||,T|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000337959|protein_coding|7/9|c.906+10G>A||||||,T|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000407585|protein_coding|7/9|c.906+10G>A||||||,T|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000403744|protein_coding|7/10|c.906+10G>A||||||,T|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000402229|protein_coding|7/10|c.906+10G>A|||||| 22 43278220 . C T . . ANN=T|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000263246|protein_coding|7/11|c.876G>A|p.Pro292Pro|1078/3249|876/1461|292/486||,T|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000337959|protein_coding|7/10|c.876G>A|p.Pro292Pro|1078/3126|876/1338|292/445||,T|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000407585|protein_coding|7/10|c.876G>A|p.Pro292Pro|1036/3080|876/1338|292/445||,T|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000403744|protein_coding|7/11|c.876G>A|p.Pro292Pro|1098/2110|876/1461|292/486||,T|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000402229|protein_coding|7/11|c.876G>A|p.Pro292Pro|1069/1883|876/1461|292/486||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|2/10|c.876G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|4/10|c.876G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|5/10|c.876G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|3/10|c.876G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|6/10|c.876G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|7/10|c.876G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|8/10|c.876G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|2/11|c.876G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|4/11|c.876G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|5/11|c.876G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|3/11|c.876G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|6/11|c.876G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|7/11|c.876G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|8/11|c.876G>A|||||| 22 43278230 . T C . . ANN=C|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000263246|protein_coding|7/11|c.866A>G|p.Asn289Ser|1068/3249|866/1461|289/486||,C|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000337959|protein_coding|7/10|c.866A>G|p.Asn289Ser|1068/3126|866/1338|289/445||,C|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000407585|protein_coding|7/10|c.866A>G|p.Asn289Ser|1026/3080|866/1338|289/445||,C|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000403744|protein_coding|7/11|c.866A>G|p.Asn289Ser|1088/2110|866/1461|289/486||,C|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000402229|protein_coding|7/11|c.866A>G|p.Asn289Ser|1059/1883|866/1461|289/486||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|2/10|c.866A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|4/10|c.866A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|5/10|c.866A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|3/10|c.866A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|6/10|c.866A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|7/10|c.866A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|8/10|c.866A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|helix|ENST00000407585|protein_coding|7/10|c.866A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|2/11|c.866A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|4/11|c.866A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|5/11|c.866A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|3/11|c.866A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|6/11|c.866A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|7/11|c.866A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|8/11|c.866A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|helix|ENST00000402229|protein_coding|7/11|c.866A>G|||||| 22 43280363 . G A . . ANN=A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|2/10|c.785+29C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|4/10|c.785+29C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|5/10|c.785+29C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|3/10|c.785+29C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|6/10|c.785+29C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|7/10|c.785+29C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|8/10|c.785+29C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|4/10|c.785+29C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|5/10|c.785+29C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|3/10|c.785+29C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|6/10|c.785+29C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|7/10|c.785+29C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|2/11|c.785+29C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|4/11|c.785+29C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|5/11|c.785+29C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|3/11|c.785+29C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|6/11|c.785+29C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|7/11|c.785+29C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|8/11|c.785+29C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|4/11|c.785+29C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|5/11|c.785+29C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|3/11|c.785+29C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|6/11|c.785+29C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|7/11|c.785+29C>T||||||,A|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000263246|protein_coding|6/10|c.785+29C>T||||||,A|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000337959|protein_coding|6/9|c.785+29C>T||||||,A|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000407585|protein_coding|6/9|c.785+29C>T||||||,A|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000403744|protein_coding|6/10|c.785+29C>T||||||,A|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000402229|protein_coding|6/10|c.785+29C>T|||||| 22 43280466 . C T . . ANN=T|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000263246|protein_coding|6/11|c.711G>A|p.Glu237Glu|913/3249|711/1461|237/486||,T|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000337959|protein_coding|6/10|c.711G>A|p.Glu237Glu|913/3126|711/1338|237/445||,T|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000407585|protein_coding|6/10|c.711G>A|p.Glu237Glu|871/3080|711/1338|237/445||,T|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000403744|protein_coding|6/11|c.711G>A|p.Glu237Glu|933/2110|711/1461|237/486||,T|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000402229|protein_coding|6/11|c.711G>A|p.Glu237Glu|904/1883|711/1461|237/486||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|2/10|c.711G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|4/10|c.711G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|5/10|c.711G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|3/10|c.711G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|6/10|c.711G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|7/10|c.711G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|8/10|c.711G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|4/10|c.711G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|5/10|c.711G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|3/10|c.711G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|6/10|c.711G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|7/10|c.711G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|helix|ENST00000407585|protein_coding|5/10|c.711G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|helix|ENST00000407585|protein_coding|6/10|c.711G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|2/11|c.711G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|4/11|c.711G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|5/11|c.711G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|3/11|c.711G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|6/11|c.711G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|7/11|c.711G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|8/11|c.711G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|4/11|c.711G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|5/11|c.711G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|3/11|c.711G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|6/11|c.711G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|7/11|c.711G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|helix|ENST00000402229|protein_coding|5/11|c.711G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|helix|ENST00000402229|protein_coding|6/11|c.711G>A|||||| 22 43284643 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000263246|protein_coding|5/10|c.609+6C>T||||||,A|splice_region_variant&intron_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000337959|protein_coding|5/9|c.609+6C>T||||||,A|splice_region_variant&intron_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000407585|protein_coding|5/9|c.609+6C>T||||||,A|splice_region_variant&intron_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000403744|protein_coding|5/10|c.609+6C>T||||||,A|splice_region_variant&intron_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000402229|protein_coding|5/10|c.609+6C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|2/10|c.609+6C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|4/10|c.609+6C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|5/10|c.609+6C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|3/10|c.609+6C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|6/10|c.609+6C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|7/10|c.609+6C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|8/10|c.609+6C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|4/10|c.609+6C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|5/10|c.609+6C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|3/10|c.609+6C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|6/10|c.609+6C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|7/10|c.609+6C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|helix|ENST00000407585|protein_coding|5/10|c.609+6C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|helix|ENST00000407585|protein_coding|6/10|c.609+6C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|2/11|c.609+6C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|4/11|c.609+6C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|5/11|c.609+6C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|3/11|c.609+6C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|6/11|c.609+6C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|7/11|c.609+6C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|8/11|c.609+6C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|4/11|c.609+6C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|5/11|c.609+6C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|3/11|c.609+6C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|6/11|c.609+6C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|7/11|c.609+6C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|helix|ENST00000402229|protein_coding|5/11|c.609+6C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|helix|ENST00000402229|protein_coding|6/11|c.609+6C>T||||||,A|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000453643|protein_coding||c.*818C>T|||||2298|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000418133|protein_coding||c.*622C>T|||||2307|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000422336|protein_coding||c.*664C>T|||||2307|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000445706|nonsense_mediated_decay||n.*260C>T|||||4820|,A|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000453079|protein_coding||c.*505C>T|||||4937|WARNING_TRANSCRIPT_INCOMPLETE 22 43284734 . T C . . ANN=C|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000263246|protein_coding|5/11|c.524A>G|p.Asn175Ser|726/3249|524/1461|175/486||,C|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000337959|protein_coding|5/10|c.524A>G|p.Asn175Ser|726/3126|524/1338|175/445||,C|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000407585|protein_coding|5/10|c.524A>G|p.Asn175Ser|684/3080|524/1338|175/445||,C|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000403744|protein_coding|5/11|c.524A>G|p.Asn175Ser|746/2110|524/1461|175/486||,C|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000402229|protein_coding|5/11|c.524A>G|p.Asn175Ser|717/1883|524/1461|175/486||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|2/10|c.524A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|4/10|c.524A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|5/10|c.524A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|3/10|c.524A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|6/10|c.524A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|7/10|c.524A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|8/10|c.524A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|4/10|c.524A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|5/10|c.524A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|3/10|c.524A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|6/10|c.524A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|7/10|c.524A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|helix|ENST00000407585|protein_coding|5/10|c.524A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|2/11|c.524A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|4/11|c.524A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|5/11|c.524A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|3/11|c.524A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|6/11|c.524A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|7/11|c.524A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|8/11|c.524A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|4/11|c.524A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|5/11|c.524A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|3/11|c.524A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|6/11|c.524A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|7/11|c.524A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|helix|ENST00000402229|protein_coding|5/11|c.524A>G||||||,C|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000453643|protein_coding||c.*818A>G|||||2207|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000418133|protein_coding||c.*622A>G|||||2216|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000422336|protein_coding||c.*664A>G|||||2216|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000445706|nonsense_mediated_decay||n.*260A>G|||||4729|,C|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000453079|protein_coding||c.*505A>G|||||4846|WARNING_TRANSCRIPT_INCOMPLETE 22 43284802 . T C . . ANN=C|splice_region_variant&synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000263246|protein_coding|5/11|c.456A>G|p.Val152Val|658/3249|456/1461|152/486||,C|splice_region_variant&synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000337959|protein_coding|5/10|c.456A>G|p.Val152Val|658/3126|456/1338|152/445||,C|splice_region_variant&synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000407585|protein_coding|5/10|c.456A>G|p.Val152Val|616/3080|456/1338|152/445||,C|splice_region_variant&synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000403744|protein_coding|5/11|c.456A>G|p.Val152Val|678/2110|456/1461|152/486||,C|splice_region_variant&synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000402229|protein_coding|5/11|c.456A>G|p.Val152Val|649/1883|456/1461|152/486||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|2/10|c.456A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|4/10|c.456A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|5/10|c.456A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|3/10|c.456A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|6/10|c.456A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|7/10|c.456A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|8/10|c.456A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|4/10|c.456A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|5/10|c.456A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|3/10|c.456A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|6/10|c.456A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|7/10|c.456A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|helix|ENST00000407585|protein_coding|4/10|c.456A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|helix|ENST00000407585|protein_coding|5/10|c.456A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|2/11|c.456A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|4/11|c.456A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|5/11|c.456A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|3/11|c.456A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|6/11|c.456A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|7/11|c.456A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|8/11|c.456A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|4/11|c.456A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|5/11|c.456A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|3/11|c.456A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|6/11|c.456A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|7/11|c.456A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|helix|ENST00000402229|protein_coding|4/11|c.456A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|helix|ENST00000402229|protein_coding|5/11|c.456A>G||||||,C|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000453643|protein_coding||c.*818A>G|||||2139|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000418133|protein_coding||c.*622A>G|||||2148|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000422336|protein_coding||c.*664A>G|||||2148|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000445706|nonsense_mediated_decay||n.*260A>G|||||4661|,C|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000453079|protein_coding||c.*505A>G|||||4778|WARNING_TRANSCRIPT_INCOMPLETE 22 43286904 . G A . . ANN=A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|2/10|c.453+49C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|4/10|c.453+49C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|5/10|c.453+49C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|3/10|c.453+49C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|6/10|c.453+49C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|7/10|c.453+49C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|8/10|c.453+49C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|4/10|c.453+49C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|5/10|c.453+49C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|3/10|c.453+49C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|6/10|c.453+49C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|7/10|c.453+49C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|helix|ENST00000407585|protein_coding|4/10|c.453+49C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|helix|ENST00000407585|protein_coding|5/10|c.453+49C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|2/11|c.453+49C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|4/11|c.453+49C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|5/11|c.453+49C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|3/11|c.453+49C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|6/11|c.453+49C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|7/11|c.453+49C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|8/11|c.453+49C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|4/11|c.453+49C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|5/11|c.453+49C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|3/11|c.453+49C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|6/11|c.453+49C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|7/11|c.453+49C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|helix|ENST00000402229|protein_coding|4/11|c.453+49C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|helix|ENST00000402229|protein_coding|5/11|c.453+49C>T||||||,A|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000453643|protein_coding||c.*818C>T|||||37|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000418133|protein_coding||c.*622C>T|||||46|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000422336|protein_coding||c.*664C>T|||||46|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000445706|nonsense_mediated_decay||n.*260C>T|||||2559|,A|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000453079|protein_coding||c.*505C>T|||||2676|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000263246|protein_coding|4/10|c.453+49C>T||||||,A|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000337959|protein_coding|4/9|c.453+49C>T||||||,A|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000407585|protein_coding|4/9|c.453+49C>T||||||,A|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000403744|protein_coding|4/10|c.453+49C>T||||||,A|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000402229|protein_coding|4/10|c.453+49C>T|||||| 22 43286924 . G A . . ANN=A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|2/10|c.453+29C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|4/10|c.453+29C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|5/10|c.453+29C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|3/10|c.453+29C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|6/10|c.453+29C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|7/10|c.453+29C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|8/10|c.453+29C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|4/10|c.453+29C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|5/10|c.453+29C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|3/10|c.453+29C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|6/10|c.453+29C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|7/10|c.453+29C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|helix|ENST00000407585|protein_coding|4/10|c.453+29C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|helix|ENST00000407585|protein_coding|5/10|c.453+29C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|2/11|c.453+29C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|4/11|c.453+29C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|5/11|c.453+29C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|3/11|c.453+29C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|6/11|c.453+29C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|7/11|c.453+29C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|8/11|c.453+29C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|4/11|c.453+29C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|5/11|c.453+29C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|3/11|c.453+29C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|6/11|c.453+29C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|7/11|c.453+29C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|helix|ENST00000402229|protein_coding|4/11|c.453+29C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|helix|ENST00000402229|protein_coding|5/11|c.453+29C>T||||||,A|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000453643|protein_coding||c.*818C>T|||||17|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000418133|protein_coding||c.*622C>T|||||26|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000422336|protein_coding||c.*664C>T|||||26|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000445706|nonsense_mediated_decay||n.*260C>T|||||2539|,A|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000453079|protein_coding||c.*505C>T|||||2656|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000263246|protein_coding|4/10|c.453+29C>T||||||,A|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000337959|protein_coding|4/9|c.453+29C>T||||||,A|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000407585|protein_coding|4/9|c.453+29C>T||||||,A|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000403744|protein_coding|4/10|c.453+29C>T||||||,A|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000402229|protein_coding|4/10|c.453+29C>T|||||| 22 43287108 . C A,T . . ANN=A|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000263246|protein_coding|4/11|c.298G>T|p.Val100Leu|500/3249|298/1461|100/486||,T|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000263246|protein_coding|4/11|c.298G>A|p.Val100Met|500/3249|298/1461|100/486||,A|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000337959|protein_coding|4/10|c.298G>T|p.Val100Leu|500/3126|298/1338|100/445||,T|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000337959|protein_coding|4/10|c.298G>A|p.Val100Met|500/3126|298/1338|100/445||,A|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000407585|protein_coding|4/10|c.298G>T|p.Val100Leu|458/3080|298/1338|100/445||,T|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000407585|protein_coding|4/10|c.298G>A|p.Val100Met|458/3080|298/1338|100/445||,A|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000403744|protein_coding|4/11|c.298G>T|p.Val100Leu|520/2110|298/1461|100/486||,T|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000403744|protein_coding|4/11|c.298G>A|p.Val100Met|520/2110|298/1461|100/486||,A|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000402229|protein_coding|4/11|c.298G>T|p.Val100Leu|491/1883|298/1461|100/486||,T|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000402229|protein_coding|4/11|c.298G>A|p.Val100Met|491/1883|298/1461|100/486||,A|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000453643|protein_coding|5/5|c.298G>T|p.Val100Leu|651/818|298/465|100/154||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000453643|protein_coding|5/5|c.298G>A|p.Val100Met|651/818|298/465|100/154||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000418133|protein_coding|4/4|c.298G>T|p.Val100Leu|464/622|298/456|100/151||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000418133|protein_coding|4/4|c.298G>A|p.Val100Met|464/622|298/456|100/151||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000422336|protein_coding|4/4|c.298G>T|p.Val100Leu|506/664|298/456|100/151||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000422336|protein_coding|4/4|c.298G>A|p.Val100Met|506/664|298/456|100/151||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|2/10|c.298G>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|4/10|c.298G>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|5/10|c.298G>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|3/10|c.298G>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|6/10|c.298G>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|7/10|c.298G>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|8/10|c.298G>T||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|2/10|c.298G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|4/10|c.298G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|5/10|c.298G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|3/10|c.298G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|6/10|c.298G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|7/10|c.298G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|8/10|c.298G>A||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|4/10|c.298G>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|5/10|c.298G>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|3/10|c.298G>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|6/10|c.298G>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|7/10|c.298G>T||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|4/10|c.298G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|5/10|c.298G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|3/10|c.298G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|6/10|c.298G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|7/10|c.298G>A||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|helix|ENST00000407585|protein_coding|4/10|c.298G>T||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|helix|ENST00000407585|protein_coding|4/10|c.298G>A||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|2/11|c.298G>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|4/11|c.298G>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|5/11|c.298G>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|3/11|c.298G>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|6/11|c.298G>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|7/11|c.298G>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|8/11|c.298G>T||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|2/11|c.298G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|4/11|c.298G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|5/11|c.298G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|3/11|c.298G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|6/11|c.298G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|7/11|c.298G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|8/11|c.298G>A||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|4/11|c.298G>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|5/11|c.298G>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|3/11|c.298G>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|6/11|c.298G>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|7/11|c.298G>T||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|4/11|c.298G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|5/11|c.298G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|3/11|c.298G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|6/11|c.298G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|7/11|c.298G>A||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|helix|ENST00000402229|protein_coding|4/11|c.298G>T||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|helix|ENST00000402229|protein_coding|4/11|c.298G>A||||||,A|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000445706|nonsense_mediated_decay||n.*260G>T|||||2355|,T|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000445706|nonsense_mediated_decay||n.*260G>A|||||2355|,A|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000453079|protein_coding||c.*505G>T|||||2472|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000453079|protein_coding||c.*505G>A|||||2472|WARNING_TRANSCRIPT_INCOMPLETE 22 43287160 . G C . . ANN=C|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000263246|protein_coding|4/11|c.246C>G|p.Ala82Ala|448/3249|246/1461|82/486||,C|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000337959|protein_coding|4/10|c.246C>G|p.Ala82Ala|448/3126|246/1338|82/445||,C|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000407585|protein_coding|4/10|c.246C>G|p.Ala82Ala|406/3080|246/1338|82/445||,C|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000403744|protein_coding|4/11|c.246C>G|p.Ala82Ala|468/2110|246/1461|82/486||,C|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000402229|protein_coding|4/11|c.246C>G|p.Ala82Ala|439/1883|246/1461|82/486||,C|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000453643|protein_coding|5/5|c.246C>G|p.Ala82Ala|599/818|246/465|82/154||WARNING_TRANSCRIPT_NO_STOP_CODON,C|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000418133|protein_coding|4/4|c.246C>G|p.Ala82Ala|412/622|246/456|82/151||WARNING_TRANSCRIPT_NO_STOP_CODON,C|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000422336|protein_coding|4/4|c.246C>G|p.Ala82Ala|454/664|246/456|82/151||WARNING_TRANSCRIPT_NO_STOP_CODON,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|2/10|c.246C>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|4/10|c.246C>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|5/10|c.246C>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|3/10|c.246C>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|6/10|c.246C>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|7/10|c.246C>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|8/10|c.246C>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|4/10|c.246C>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|5/10|c.246C>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|3/10|c.246C>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|6/10|c.246C>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|7/10|c.246C>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|helix|ENST00000407585|protein_coding|4/10|c.246C>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|2/11|c.246C>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|4/11|c.246C>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|5/11|c.246C>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|3/11|c.246C>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|6/11|c.246C>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|7/11|c.246C>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|8/11|c.246C>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|4/11|c.246C>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|5/11|c.246C>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|3/11|c.246C>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|6/11|c.246C>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|7/11|c.246C>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|helix|ENST00000402229|protein_coding|4/11|c.246C>G||||||,C|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000445706|nonsense_mediated_decay||n.*260C>G|||||2303|,C|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000453079|protein_coding||c.*505C>G|||||2420|WARNING_TRANSCRIPT_INCOMPLETE 22 43287173 . G A . . ANN=A|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000263246|protein_coding|4/11|c.233C>T|p.Thr78Ile|435/3249|233/1461|78/486||,A|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000337959|protein_coding|4/10|c.233C>T|p.Thr78Ile|435/3126|233/1338|78/445||,A|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000407585|protein_coding|4/10|c.233C>T|p.Thr78Ile|393/3080|233/1338|78/445||,A|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000403744|protein_coding|4/11|c.233C>T|p.Thr78Ile|455/2110|233/1461|78/486||,A|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000402229|protein_coding|4/11|c.233C>T|p.Thr78Ile|426/1883|233/1461|78/486||,A|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000453643|protein_coding|5/5|c.233C>T|p.Thr78Ile|586/818|233/465|78/154||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000418133|protein_coding|4/4|c.233C>T|p.Thr78Ile|399/622|233/456|78/151||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000422336|protein_coding|4/4|c.233C>T|p.Thr78Ile|441/664|233/456|78/151||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|2/10|c.233C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|4/10|c.233C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|5/10|c.233C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|3/10|c.233C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|6/10|c.233C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|7/10|c.233C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|8/10|c.233C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|4/10|c.233C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|5/10|c.233C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|3/10|c.233C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|6/10|c.233C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|7/10|c.233C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|helix|ENST00000407585|protein_coding|4/10|c.233C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|2/11|c.233C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|4/11|c.233C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|5/11|c.233C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|3/11|c.233C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|6/11|c.233C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|7/11|c.233C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|8/11|c.233C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|4/11|c.233C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|5/11|c.233C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|3/11|c.233C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|6/11|c.233C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|7/11|c.233C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|helix|ENST00000402229|protein_coding|4/11|c.233C>T||||||,A|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000445706|nonsense_mediated_decay||n.*260C>T|||||2290|,A|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000453079|protein_coding||c.*505C>T|||||2407|WARNING_TRANSCRIPT_INCOMPLETE 22 43287237 . G A . . ANN=A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|2/10|c.218-49C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|4/10|c.218-49C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|5/10|c.218-49C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|3/10|c.218-49C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|6/10|c.218-49C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|7/10|c.218-49C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|8/10|c.218-49C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|4/10|c.218-49C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|5/10|c.218-49C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|3/10|c.218-49C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|6/10|c.218-49C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|7/10|c.218-49C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|domain:FCH|ENST00000407585|protein_coding|2/10|c.218-49C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|domain:FCH|ENST00000407585|protein_coding|4/10|c.218-49C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|domain:FCH|ENST00000407585|protein_coding|3/10|c.218-49C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|2/11|c.218-49C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|4/11|c.218-49C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|5/11|c.218-49C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|3/11|c.218-49C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|6/11|c.218-49C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|7/11|c.218-49C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|8/11|c.218-49C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|4/11|c.218-49C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|5/11|c.218-49C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|3/11|c.218-49C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|6/11|c.218-49C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|7/11|c.218-49C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|domain:FCH|ENST00000402229|protein_coding|2/11|c.218-49C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|domain:FCH|ENST00000402229|protein_coding|4/11|c.218-49C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|domain:FCH|ENST00000402229|protein_coding|3/11|c.218-49C>T||||||,A|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000445706|nonsense_mediated_decay||n.*260C>T|||||2226|,A|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000453079|protein_coding||c.*505C>T|||||2343|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000263246|protein_coding|3/10|c.218-49C>T||||||,A|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000337959|protein_coding|3/9|c.218-49C>T||||||,A|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000407585|protein_coding|3/9|c.218-49C>T||||||,A|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000403744|protein_coding|3/10|c.218-49C>T||||||,A|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000402229|protein_coding|3/10|c.218-49C>T||||||,A|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000453643|protein_coding|4/4|c.218-49C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000418133|protein_coding|3/3|c.218-49C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000422336|protein_coding|3/3|c.218-49C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 43289453 . G A . . ANN=A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|2/10|c.217+10C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|4/10|c.217+10C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|5/10|c.217+10C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|3/10|c.217+10C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|6/10|c.217+10C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|7/10|c.217+10C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|8/10|c.217+10C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|4/10|c.217+10C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|5/10|c.217+10C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|3/10|c.217+10C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|6/10|c.217+10C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|7/10|c.217+10C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|domain:FCH|ENST00000407585|protein_coding|2/10|c.217+10C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|domain:FCH|ENST00000407585|protein_coding|4/10|c.217+10C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|domain:FCH|ENST00000407585|protein_coding|3/10|c.217+10C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|2/11|c.217+10C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|4/11|c.217+10C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|5/11|c.217+10C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|3/11|c.217+10C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|6/11|c.217+10C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|7/11|c.217+10C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|8/11|c.217+10C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|4/11|c.217+10C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|5/11|c.217+10C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|3/11|c.217+10C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|6/11|c.217+10C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|7/11|c.217+10C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|domain:FCH|ENST00000402229|protein_coding|2/11|c.217+10C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|domain:FCH|ENST00000402229|protein_coding|4/11|c.217+10C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|domain:FCH|ENST00000402229|protein_coding|3/11|c.217+10C>T||||||,A|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000445706|nonsense_mediated_decay||n.*260C>T|||||10|,A|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000453079|protein_coding||c.*505C>T|||||127|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000263246|protein_coding|3/10|c.217+10C>T||||||,A|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000337959|protein_coding|3/9|c.217+10C>T||||||,A|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000407585|protein_coding|3/9|c.217+10C>T||||||,A|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000403744|protein_coding|3/10|c.217+10C>T||||||,A|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000402229|protein_coding|3/10|c.217+10C>T||||||,A|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000453643|protein_coding|4/4|c.217+10C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000418133|protein_coding|3/3|c.217+10C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000422336|protein_coding|3/3|c.217+10C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 43289473 . G A . . ANN=A|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000263246|protein_coding|3/11|c.207C>T|p.Leu69Leu|409/3249|207/1461|69/486||,A|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000337959|protein_coding|3/10|c.207C>T|p.Leu69Leu|409/3126|207/1338|69/445||,A|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000407585|protein_coding|3/10|c.207C>T|p.Leu69Leu|367/3080|207/1338|69/445||,A|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000403744|protein_coding|3/11|c.207C>T|p.Leu69Leu|429/2110|207/1461|69/486||,A|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000402229|protein_coding|3/11|c.207C>T|p.Leu69Leu|400/1883|207/1461|69/486||,A|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000453643|protein_coding|4/5|c.207C>T|p.Leu69Leu|560/818|207/465|69/154||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000418133|protein_coding|3/4|c.207C>T|p.Leu69Leu|373/622|207/456|69/151||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000422336|protein_coding|3/4|c.207C>T|p.Leu69Leu|415/664|207/456|69/151||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|2/10|c.207C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|4/10|c.207C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|5/10|c.207C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|3/10|c.207C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|6/10|c.207C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|7/10|c.207C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|8/10|c.207C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|4/10|c.207C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|5/10|c.207C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|3/10|c.207C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|6/10|c.207C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|7/10|c.207C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|domain:FCH|ENST00000407585|protein_coding|2/10|c.207C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|domain:FCH|ENST00000407585|protein_coding|4/10|c.207C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|domain:FCH|ENST00000407585|protein_coding|3/10|c.207C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|helix|ENST00000407585|protein_coding|3/10|c.207C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|2/11|c.207C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|4/11|c.207C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|5/11|c.207C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|3/11|c.207C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|6/11|c.207C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|7/11|c.207C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|8/11|c.207C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|4/11|c.207C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|5/11|c.207C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|3/11|c.207C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|6/11|c.207C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|7/11|c.207C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|domain:FCH|ENST00000402229|protein_coding|2/11|c.207C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|domain:FCH|ENST00000402229|protein_coding|4/11|c.207C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|domain:FCH|ENST00000402229|protein_coding|3/11|c.207C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|helix|ENST00000402229|protein_coding|3/11|c.207C>T||||||,A|3_prime_UTR_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000445706|nonsense_mediated_decay|4/4|n.*241C>T|||||16054|,A|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000453079|protein_coding||c.*505C>T|||||107|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000445706|nonsense_mediated_decay|4/4|n.*241C>T|||||| 22 43289518 . C T . . ANN=T|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000263246|protein_coding|3/11|c.162G>A|p.Ala54Ala|364/3249|162/1461|54/486||,T|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000337959|protein_coding|3/10|c.162G>A|p.Ala54Ala|364/3126|162/1338|54/445||,T|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000407585|protein_coding|3/10|c.162G>A|p.Ala54Ala|322/3080|162/1338|54/445||,T|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000403744|protein_coding|3/11|c.162G>A|p.Ala54Ala|384/2110|162/1461|54/486||,T|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000402229|protein_coding|3/11|c.162G>A|p.Ala54Ala|355/1883|162/1461|54/486||,T|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000453643|protein_coding|4/5|c.162G>A|p.Ala54Ala|515/818|162/465|54/154||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000418133|protein_coding|3/4|c.162G>A|p.Ala54Ala|328/622|162/456|54/151||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000422336|protein_coding|3/4|c.162G>A|p.Ala54Ala|370/664|162/456|54/151||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|2/10|c.162G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|4/10|c.162G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|5/10|c.162G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|3/10|c.162G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|6/10|c.162G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|7/10|c.162G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|8/10|c.162G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|4/10|c.162G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|5/10|c.162G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|3/10|c.162G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|6/10|c.162G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|7/10|c.162G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|domain:FCH|ENST00000407585|protein_coding|2/10|c.162G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|domain:FCH|ENST00000407585|protein_coding|4/10|c.162G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|domain:FCH|ENST00000407585|protein_coding|3/10|c.162G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|helix|ENST00000407585|protein_coding|3/10|c.162G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|2/11|c.162G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|4/11|c.162G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|5/11|c.162G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|3/11|c.162G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|6/11|c.162G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|7/11|c.162G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|8/11|c.162G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|4/11|c.162G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|5/11|c.162G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|3/11|c.162G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|6/11|c.162G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|7/11|c.162G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|domain:FCH|ENST00000402229|protein_coding|2/11|c.162G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|domain:FCH|ENST00000402229|protein_coding|4/11|c.162G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|domain:FCH|ENST00000402229|protein_coding|3/11|c.162G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|helix|ENST00000402229|protein_coding|3/11|c.162G>A||||||,T|3_prime_UTR_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000445706|nonsense_mediated_decay|4/4|n.*196G>A|||||16009|,T|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000453079|protein_coding||c.*505G>A|||||62|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000445706|nonsense_mediated_decay|4/4|n.*196G>A|||||| 22 43308063 . G A . . ANN=A|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000263246|protein_coding|2/11|c.24C>T|p.Ser8Ser|226/3249|24/1461|8/486||,A|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000337959|protein_coding|2/10|c.24C>T|p.Ser8Ser|226/3126|24/1338|8/445||,A|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000407585|protein_coding|2/10|c.24C>T|p.Ser8Ser|184/3080|24/1338|8/445||,A|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000403744|protein_coding|2/11|c.24C>T|p.Ser8Ser|246/2110|24/1461|8/486||,A|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000402229|protein_coding|2/11|c.24C>T|p.Ser8Ser|217/1883|24/1461|8/486||,A|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000453643|protein_coding|3/5|c.24C>T|p.Ser8Ser|377/818|24/465|8/154||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000418133|protein_coding|2/4|c.24C>T|p.Ser8Ser|190/622|24/456|8/151||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000422336|protein_coding|2/4|c.24C>T|p.Ser8Ser|232/664|24/456|8/151||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000453079|protein_coding|2/3|c.24C>T|p.Ser8Ser|429/505|24/100|8/32||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|2/10|c.24C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|4/10|c.24C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|5/10|c.24C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|3/10|c.24C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|6/10|c.24C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|7/10|c.24C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|8/10|c.24C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|2/11|c.24C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|4/11|c.24C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|5/11|c.24C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|3/11|c.24C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|6/11|c.24C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|7/11|c.24C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|8/11|c.24C>T||||||,A|non_coding_exon_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000445706|nonsense_mediated_decay|2/4|n.24C>T|||||| 22 43308084 . C A . . ANN=A|start_lost|HIGH|PACSIN2|ENSG00000100266|transcript|ENST00000263246|protein_coding|2/11|c.3G>T|p.Met1?|205/3249|3/1461|1/486||,A|start_lost|HIGH|PACSIN2|ENSG00000100266|transcript|ENST00000337959|protein_coding|2/10|c.3G>T|p.Met1?|205/3126|3/1338|1/445||,A|start_lost|HIGH|PACSIN2|ENSG00000100266|transcript|ENST00000407585|protein_coding|2/10|c.3G>T|p.Met1?|163/3080|3/1338|1/445||,A|start_lost|HIGH|PACSIN2|ENSG00000100266|transcript|ENST00000403744|protein_coding|2/11|c.3G>T|p.Met1?|225/2110|3/1461|1/486||,A|start_lost|HIGH|PACSIN2|ENSG00000100266|transcript|ENST00000402229|protein_coding|2/11|c.3G>T|p.Met1?|196/1883|3/1461|1/486||,A|start_lost|HIGH|PACSIN2|ENSG00000100266|transcript|ENST00000453643|protein_coding|3/5|c.3G>T|p.Met1?|356/818|3/465|1/154||WARNING_TRANSCRIPT_NO_STOP_CODON,A|start_lost|HIGH|PACSIN2|ENSG00000100266|transcript|ENST00000418133|protein_coding|2/4|c.3G>T|p.Met1?|169/622|3/456|1/151||WARNING_TRANSCRIPT_NO_STOP_CODON,A|start_lost|HIGH|PACSIN2|ENSG00000100266|transcript|ENST00000422336|protein_coding|2/4|c.3G>T|p.Met1?|211/664|3/456|1/151||WARNING_TRANSCRIPT_NO_STOP_CODON,A|start_lost|HIGH|PACSIN2|ENSG00000100266|transcript|ENST00000453079|protein_coding|2/3|c.3G>T|p.Met1?|408/505|3/100|1/32||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|2/10|c.3G>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|4/10|c.3G>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|5/10|c.3G>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|3/10|c.3G>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|6/10|c.3G>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|7/10|c.3G>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|8/10|c.3G>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|2/11|c.3G>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|4/11|c.3G>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|5/11|c.3G>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|3/11|c.3G>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|6/11|c.3G>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|7/11|c.3G>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|8/11|c.3G>T||||||,A|non_coding_exon_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000445706|nonsense_mediated_decay|2/4|n.3G>T||||||;LOF=(PACSIN2|ENSG00000100266|11|0.82) 22 43308112 . A C . . ANN=C|5_prime_UTR_premature_start_codon_gain_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000263246|protein_coding|2/11|c.-26T>G||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000337959|protein_coding|2/10|c.-26T>G||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000407585|protein_coding|2/10|c.-26T>G||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000403744|protein_coding|2/11|c.-26T>G||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000402229|protein_coding|2/11|c.-26T>G||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000453643|protein_coding|3/5|c.-26T>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000418133|protein_coding|2/4|c.-26T>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000422336|protein_coding|2/4|c.-26T>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000445706|nonsense_mediated_decay|2/4|n.-26T>G||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|PACSIN2|ENSG00000100266|transcript|ENST00000453079|protein_coding|2/3|c.-26T>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|5_prime_UTR_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000263246|protein_coding|2/11|c.-26T>G|||||26|,C|5_prime_UTR_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000337959|protein_coding|2/10|c.-26T>G|||||26|,C|5_prime_UTR_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000407585|protein_coding|2/10|c.-26T>G|||||26|,C|5_prime_UTR_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000403744|protein_coding|2/11|c.-26T>G|||||26|,C|5_prime_UTR_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000402229|protein_coding|2/11|c.-26T>G|||||26|,C|5_prime_UTR_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000453643|protein_coding|3/5|c.-26T>G|||||26|WARNING_TRANSCRIPT_NO_STOP_CODON,C|5_prime_UTR_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000418133|protein_coding|2/4|c.-26T>G|||||26|WARNING_TRANSCRIPT_NO_STOP_CODON,C|5_prime_UTR_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000422336|protein_coding|2/4|c.-26T>G|||||26|WARNING_TRANSCRIPT_NO_STOP_CODON,C|5_prime_UTR_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000445706|nonsense_mediated_decay|2/4|n.-26T>G|||||26|,C|5_prime_UTR_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000453079|protein_coding|2/3|c.-26T>G|||||26|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000445706|nonsense_mediated_decay|2/4|n.-26T>G|||||| 22 43435812 . C T . . ANN=T|synonymous_variant|LOW|TTLL1|ENSG00000100271|transcript|ENST00000266254|protein_coding|11/11|c.1242G>A|p.Ser414Ser|1483/1645|1242/1272|414/423||,T|synonymous_variant|LOW|TTLL1|ENSG00000100271|transcript|ENST00000331018|protein_coding|10/10|c.1155G>A|p.Ser385Ser|1396/1686|1155/1185|385/394||,T|3_prime_UTR_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|12/12|n.*1166G>A|||||30370|,T|3_prime_UTR_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|12/12|n.*1134G>A|||||30370|,T|non_coding_exon_variant|MODIFIER|AL022476.2|ENSG00000230319|transcript|ENST00000443063|antisense|1/3|n.1222C>T||||||,T|non_coding_exon_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|12/12|n.*1166G>A||||||,T|non_coding_exon_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|12/12|n.*1134G>A|||||| 22 43435821 . C T . . ANN=T|synonymous_variant|LOW|TTLL1|ENSG00000100271|transcript|ENST00000266254|protein_coding|11/11|c.1233G>A|p.Ser411Ser|1474/1645|1233/1272|411/423||,T|synonymous_variant|LOW|TTLL1|ENSG00000100271|transcript|ENST00000331018|protein_coding|10/10|c.1146G>A|p.Ser382Ser|1387/1686|1146/1185|382/394||,T|3_prime_UTR_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|12/12|n.*1157G>A|||||30361|,T|3_prime_UTR_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|12/12|n.*1125G>A|||||30361|,T|non_coding_exon_variant|MODIFIER|AL022476.2|ENSG00000230319|transcript|ENST00000443063|antisense|1/3|n.1231C>T||||||,T|non_coding_exon_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|12/12|n.*1157G>A||||||,T|non_coding_exon_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|12/12|n.*1125G>A|||||| 22 43435875 . G A . . ANN=A|synonymous_variant|LOW|TTLL1|ENSG00000100271|transcript|ENST00000266254|protein_coding|11/11|c.1179C>T|p.Asp393Asp|1420/1645|1179/1272|393/423||,A|synonymous_variant|LOW|TTLL1|ENSG00000100271|transcript|ENST00000331018|protein_coding|10/10|c.1092C>T|p.Asp364Asp|1333/1686|1092/1185|364/394||,A|3_prime_UTR_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|12/12|n.*1103C>T|||||30307|,A|3_prime_UTR_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|12/12|n.*1071C>T|||||30307|,A|non_coding_exon_variant|MODIFIER|AL022476.2|ENSG00000230319|transcript|ENST00000443063|antisense|1/3|n.1285G>A||||||,A|non_coding_exon_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|12/12|n.*1103C>T||||||,A|non_coding_exon_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|12/12|n.*1071C>T|||||| 22 43435918 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|TTLL1|ENSG00000100271|transcript|ENST00000266254|protein_coding|10/10|c.1143-7T>C||||||,G|splice_region_variant&intron_variant|LOW|TTLL1|ENSG00000100271|transcript|ENST00000331018|protein_coding|9/9|c.1056-7T>C||||||,G|splice_region_variant&intron_variant|LOW|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|11/11|n.*1067-7T>C||||||,G|splice_region_variant&intron_variant|LOW|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|11/11|n.*1035-7T>C||||||,G|non_coding_exon_variant|MODIFIER|AL022476.2|ENSG00000230319|transcript|ENST00000443063|antisense|1/3|n.1328A>G|||||| 22 43442376 . A G . . ANN=G|intron_variant|MODIFIER|AL022476.2|ENSG00000230319|transcript|ENST00000443063|antisense|2/2|n.1771+5069A>G||||||,G|intron_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000266254|protein_coding|10/10|c.1142+40T>C||||||,G|intron_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000331018|protein_coding|9/9|c.1055+40T>C||||||,G|intron_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|11/11|n.*1066+40T>C||||||,G|intron_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|11/11|n.*1034+40T>C|||||| 22 43442393 . C T . . ANN=T|intron_variant|MODIFIER|AL022476.2|ENSG00000230319|transcript|ENST00000443063|antisense|2/2|n.1771+5086C>T||||||,T|intron_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000266254|protein_coding|10/10|c.1142+23G>A||||||,T|intron_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000331018|protein_coding|9/9|c.1055+23G>A||||||,T|intron_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|11/11|n.*1066+23G>A||||||,T|intron_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|11/11|n.*1034+23G>A|||||| 22 43442542 . T C . . ANN=C|missense_variant|MODERATE|TTLL1|ENSG00000100271|transcript|ENST00000266254|protein_coding|10/11|c.1016A>G|p.Asn339Ser|1257/1645|1016/1272|339/423||,C|missense_variant|MODERATE|TTLL1|ENSG00000100271|transcript|ENST00000331018|protein_coding|9/10|c.929A>G|p.Asn310Ser|1170/1686|929/1185|310/394||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|3/11|c.1016A>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|10/11|c.1016A>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|8/11|c.1016A>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|4/11|c.1016A>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|6/11|c.1016A>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|9/11|c.1016A>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|7/11|c.1016A>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|5/11|c.1016A>G||||||,C|3_prime_UTR_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|11/12|n.*940A>G|||||23640|,C|3_prime_UTR_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|11/12|n.*908A>G|||||23640|,C|intron_variant|MODIFIER|AL022476.2|ENSG00000230319|transcript|ENST00000443063|antisense|2/2|n.1771+5235T>C||||||,C|non_coding_exon_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|11/12|n.*940A>G||||||,C|non_coding_exon_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|11/12|n.*908A>G|||||| 22 43442557 . G A . . ANN=A|missense_variant|MODERATE|TTLL1|ENSG00000100271|transcript|ENST00000266254|protein_coding|10/11|c.1001C>T|p.Thr334Met|1242/1645|1001/1272|334/423||,A|missense_variant|MODERATE|TTLL1|ENSG00000100271|transcript|ENST00000331018|protein_coding|9/10|c.914C>T|p.Thr305Met|1155/1686|914/1185|305/394||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|3/11|c.1001C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|10/11|c.1001C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|8/11|c.1001C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|4/11|c.1001C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|6/11|c.1001C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|9/11|c.1001C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|7/11|c.1001C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|5/11|c.1001C>T||||||,A|3_prime_UTR_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|11/12|n.*925C>T|||||23625|,A|3_prime_UTR_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|11/12|n.*893C>T|||||23625|,A|intron_variant|MODIFIER|AL022476.2|ENSG00000230319|transcript|ENST00000443063|antisense|2/2|n.1771+5250G>A||||||,A|non_coding_exon_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|11/12|n.*925C>T||||||,A|non_coding_exon_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|11/12|n.*893C>T|||||| 22 43442599 . T C . . ANN=C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|3/11|c.979-20A>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|10/11|c.979-20A>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|8/11|c.979-20A>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|4/11|c.979-20A>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|6/11|c.979-20A>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|9/11|c.979-20A>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|7/11|c.979-20A>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|5/11|c.979-20A>G||||||,C|intron_variant|MODIFIER|AL022476.2|ENSG00000230319|transcript|ENST00000443063|antisense|2/2|n.1771+5292T>C||||||,C|intron_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000266254|protein_coding|9/10|c.979-20A>G||||||,C|intron_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000331018|protein_coding|8/9|c.892-20A>G||||||,C|intron_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|10/11|n.*903-20A>G||||||,C|intron_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|10/11|n.*871-20A>G|||||| 22 43442609 . C G . . ANN=G|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|3/11|c.979-30G>C||||||,G|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|10/11|c.979-30G>C||||||,G|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|8/11|c.979-30G>C||||||,G|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|4/11|c.979-30G>C||||||,G|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|6/11|c.979-30G>C||||||,G|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|9/11|c.979-30G>C||||||,G|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|7/11|c.979-30G>C||||||,G|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|5/11|c.979-30G>C||||||,G|intron_variant|MODIFIER|AL022476.2|ENSG00000230319|transcript|ENST00000443063|antisense|2/2|n.1771+5302C>G||||||,G|intron_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000266254|protein_coding|9/10|c.979-30G>C||||||,G|intron_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000331018|protein_coding|8/9|c.892-30G>C||||||,G|intron_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|10/11|n.*903-30G>C||||||,G|intron_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|10/11|n.*871-30G>C|||||| 22 43442620 . G A . . ANN=A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|3/11|c.979-41C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|10/11|c.979-41C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|8/11|c.979-41C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|4/11|c.979-41C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|6/11|c.979-41C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|9/11|c.979-41C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|7/11|c.979-41C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|5/11|c.979-41C>T||||||,A|intron_variant|MODIFIER|AL022476.2|ENSG00000230319|transcript|ENST00000443063|antisense|2/2|n.1771+5313G>A||||||,A|intron_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000266254|protein_coding|9/10|c.979-41C>T||||||,A|intron_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000331018|protein_coding|8/9|c.892-41C>T||||||,A|intron_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|10/11|n.*903-41C>T||||||,A|intron_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|10/11|n.*871-41C>T|||||| 22 43447827 . G A . . ANN=A|synonymous_variant|LOW|TTLL1|ENSG00000100271|transcript|ENST00000266254|protein_coding|9/11|c.958C>T|p.Leu320Leu|1199/1645|958/1272|320/423||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|3/11|c.958C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|10/11|c.958C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|8/11|c.958C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|4/11|c.958C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|6/11|c.958C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|9/11|c.958C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|7/11|c.958C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|5/11|c.958C>T||||||,A|3_prime_UTR_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|10/12|n.*882C>T|||||18355|,A|3_prime_UTR_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|10/12|n.*850C>T|||||18355|,A|intron_variant|MODIFIER|AL022476.2|ENSG00000230319|transcript|ENST00000443063|antisense|2/2|n.1772-234G>A||||||,A|intron_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000331018|protein_coding|8/9|c.892-5248C>T||||||,A|non_coding_exon_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|10/12|n.*882C>T||||||,A|non_coding_exon_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|10/12|n.*850C>T|||||| 22 43447870 . G A . . ANN=A|synonymous_variant|LOW|TTLL1|ENSG00000100271|transcript|ENST00000266254|protein_coding|9/11|c.915C>T|p.His305His|1156/1645|915/1272|305/423||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|3/11|c.915C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|10/11|c.915C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|8/11|c.915C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|4/11|c.915C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|6/11|c.915C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|9/11|c.915C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|7/11|c.915C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|5/11|c.915C>T||||||,A|3_prime_UTR_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|10/12|n.*839C>T|||||18312|,A|3_prime_UTR_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|10/12|n.*807C>T|||||18312|,A|intron_variant|MODIFIER|AL022476.2|ENSG00000230319|transcript|ENST00000443063|antisense|2/2|n.1772-191G>A||||||,A|intron_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000331018|protein_coding|8/9|c.892-5291C>T||||||,A|non_coding_exon_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|10/12|n.*839C>T||||||,A|non_coding_exon_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|10/12|n.*807C>T|||||| 22 43447891 . C T . . ANN=T|splice_region_variant&synonymous_variant|LOW|TTLL1|ENSG00000100271|transcript|ENST00000266254|protein_coding|9/11|c.894G>A|p.Pro298Pro|1135/1645|894/1272|298/423||,T|splice_region_variant&non_coding_exon_variant|LOW|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|10/12|n.*818G>A||||||,T|splice_region_variant&non_coding_exon_variant|LOW|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|10/12|n.*786G>A||||||,T|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|3/11|c.894G>A||||||,T|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|10/11|c.894G>A||||||,T|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|8/11|c.894G>A||||||,T|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|4/11|c.894G>A||||||,T|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|6/11|c.894G>A||||||,T|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|9/11|c.894G>A||||||,T|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|7/11|c.894G>A||||||,T|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|5/11|c.894G>A||||||,T|3_prime_UTR_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|10/12|n.*818G>A|||||18291|,T|3_prime_UTR_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|10/12|n.*786G>A|||||18291|,T|intron_variant|MODIFIER|AL022476.2|ENSG00000230319|transcript|ENST00000443063|antisense|2/2|n.1772-170C>T||||||,T|intron_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000331018|protein_coding|8/9|c.892-5312G>A|||||| 22 43447939 . C T . . ANN=T|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|3/11|c.892-46G>A||||||,T|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|10/11|c.892-46G>A||||||,T|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|8/11|c.892-46G>A||||||,T|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|4/11|c.892-46G>A||||||,T|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|6/11|c.892-46G>A||||||,T|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|9/11|c.892-46G>A||||||,T|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|7/11|c.892-46G>A||||||,T|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|5/11|c.892-46G>A||||||,T|intron_variant|MODIFIER|AL022476.2|ENSG00000230319|transcript|ENST00000443063|antisense|2/2|n.1772-122C>T||||||,T|intron_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000266254|protein_coding|8/10|c.892-46G>A||||||,T|intron_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000331018|protein_coding|8/9|c.892-5360G>A||||||,T|intron_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|9/11|n.*816-46G>A||||||,T|intron_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|9/11|n.*784-46G>A|||||| 22 43455432 . G A . . ANN=A|synonymous_variant|LOW|TTLL1|ENSG00000100271|transcript|ENST00000266254|protein_coding|8/11|c.849C>T|p.Asp283Asp|1090/1645|849/1272|283/423||,A|synonymous_variant|LOW|TTLL1|ENSG00000100271|transcript|ENST00000331018|protein_coding|8/10|c.849C>T|p.Asp283Asp|1090/1686|849/1185|283/394||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|3/11|c.849C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|10/11|c.849C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|8/11|c.849C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|4/11|c.849C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|6/11|c.849C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|9/11|c.849C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|7/11|c.849C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|5/11|c.849C>T||||||,A|3_prime_UTR_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|9/12|n.*773C>T|||||10750|,A|3_prime_UTR_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|9/12|n.*741C>T|||||10750|,A|non_coding_exon_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|9/12|n.*773C>T||||||,A|non_coding_exon_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|9/12|n.*741C>T|||||| 22 43455457 . T C . . ANN=C|missense_variant|MODERATE|TTLL1|ENSG00000100271|transcript|ENST00000266254|protein_coding|8/11|c.824A>G|p.Lys275Arg|1065/1645|824/1272|275/423||,C|missense_variant|MODERATE|TTLL1|ENSG00000100271|transcript|ENST00000331018|protein_coding|8/10|c.824A>G|p.Lys275Arg|1065/1686|824/1185|275/394||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|3/11|c.824A>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|10/11|c.824A>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|8/11|c.824A>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|4/11|c.824A>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|6/11|c.824A>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|9/11|c.824A>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|7/11|c.824A>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|5/11|c.824A>G||||||,C|3_prime_UTR_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|9/12|n.*748A>G|||||10725|,C|3_prime_UTR_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|9/12|n.*716A>G|||||10725|,C|non_coding_exon_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|9/12|n.*748A>G||||||,C|non_coding_exon_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|9/12|n.*716A>G|||||| 22 43455531 . C T . . ANN=T|splice_region_variant&synonymous_variant|LOW|TTLL1|ENSG00000100271|transcript|ENST00000266254|protein_coding|8/11|c.750G>A|p.Glu250Glu|991/1645|750/1272|250/423||,T|splice_region_variant&synonymous_variant|LOW|TTLL1|ENSG00000100271|transcript|ENST00000331018|protein_coding|8/10|c.750G>A|p.Glu250Glu|991/1686|750/1185|250/394||,T|splice_region_variant&non_coding_exon_variant|LOW|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|9/12|n.*674G>A||||||,T|splice_region_variant&non_coding_exon_variant|LOW|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|9/12|n.*642G>A||||||,T|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|3/11|c.750G>A||||||,T|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|10/11|c.750G>A||||||,T|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|8/11|c.750G>A||||||,T|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|4/11|c.750G>A||||||,T|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|6/11|c.750G>A||||||,T|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|9/11|c.750G>A||||||,T|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|7/11|c.750G>A||||||,T|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|5/11|c.750G>A||||||,T|3_prime_UTR_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|9/12|n.*674G>A|||||10651|,T|3_prime_UTR_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|9/12|n.*642G>A|||||10651| 22 43455537 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|TTLL1|ENSG00000100271|transcript|ENST00000266254|protein_coding|7/10|c.748-4C>T||||||,A|splice_region_variant&intron_variant|LOW|TTLL1|ENSG00000100271|transcript|ENST00000331018|protein_coding|7/9|c.748-4C>T||||||,A|splice_region_variant&intron_variant|LOW|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|8/11|n.*672-4C>T||||||,A|splice_region_variant&intron_variant|LOW|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|8/11|n.*640-4C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|3/11|c.748-4C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|10/11|c.748-4C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|8/11|c.748-4C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|4/11|c.748-4C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|6/11|c.748-4C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|9/11|c.748-4C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|7/11|c.748-4C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|5/11|c.748-4C>T|||||| 22 43455549 . C T . . ANN=T|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|3/11|c.748-16G>A||||||,T|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|10/11|c.748-16G>A||||||,T|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|8/11|c.748-16G>A||||||,T|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|4/11|c.748-16G>A||||||,T|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|6/11|c.748-16G>A||||||,T|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|9/11|c.748-16G>A||||||,T|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|7/11|c.748-16G>A||||||,T|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|5/11|c.748-16G>A||||||,T|intron_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000266254|protein_coding|7/10|c.748-16G>A||||||,T|intron_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000331018|protein_coding|7/9|c.748-16G>A||||||,T|intron_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|8/11|n.*672-16G>A||||||,T|intron_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|8/11|n.*640-16G>A|||||| 22 43459813 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|TTLL1|ENSG00000100271|transcript|ENST00000266254|protein_coding|7/10|c.747+6T>C||||||,G|splice_region_variant&intron_variant|LOW|TTLL1|ENSG00000100271|transcript|ENST00000331018|protein_coding|7/9|c.747+6T>C||||||,G|splice_region_variant&intron_variant|LOW|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|8/11|n.*671+6T>C||||||,G|splice_region_variant&intron_variant|LOW|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|8/11|n.*639+6T>C||||||,G|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|3/11|c.747+6T>C||||||,G|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|10/11|c.747+6T>C||||||,G|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|8/11|c.747+6T>C||||||,G|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|4/11|c.747+6T>C||||||,G|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|6/11|c.747+6T>C||||||,G|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|9/11|c.747+6T>C||||||,G|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|7/11|c.747+6T>C||||||,G|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|5/11|c.747+6T>C|||||| 22 43459846 . G A . . ANN=A|synonymous_variant|LOW|TTLL1|ENSG00000100271|transcript|ENST00000266254|protein_coding|7/11|c.720C>T|p.Leu240Leu|961/1645|720/1272|240/423||,A|synonymous_variant|LOW|TTLL1|ENSG00000100271|transcript|ENST00000331018|protein_coding|7/10|c.720C>T|p.Leu240Leu|961/1686|720/1185|240/394||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|3/11|c.720C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|10/11|c.720C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|8/11|c.720C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|4/11|c.720C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|6/11|c.720C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|9/11|c.720C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|7/11|c.720C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|5/11|c.720C>T||||||,A|3_prime_UTR_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|8/12|n.*644C>T|||||6336|,A|3_prime_UTR_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|8/12|n.*612C>T|||||6336|,A|non_coding_exon_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|8/12|n.*644C>T||||||,A|non_coding_exon_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|8/12|n.*612C>T|||||| 22 43459864 . G A . . ANN=A|synonymous_variant|LOW|TTLL1|ENSG00000100271|transcript|ENST00000266254|protein_coding|7/11|c.702C>T|p.Asp234Asp|943/1645|702/1272|234/423||,A|synonymous_variant|LOW|TTLL1|ENSG00000100271|transcript|ENST00000331018|protein_coding|7/10|c.702C>T|p.Asp234Asp|943/1686|702/1185|234/394||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|3/11|c.702C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|10/11|c.702C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|8/11|c.702C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|4/11|c.702C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|6/11|c.702C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|9/11|c.702C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|7/11|c.702C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|5/11|c.702C>T||||||,A|3_prime_UTR_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|8/12|n.*626C>T|||||6318|,A|3_prime_UTR_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|8/12|n.*594C>T|||||6318|,A|non_coding_exon_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|8/12|n.*626C>T||||||,A|non_coding_exon_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|8/12|n.*594C>T|||||| 22 43460215 . G A . . ANN=A|missense_variant|MODERATE|TTLL1|ENSG00000100271|transcript|ENST00000266254|protein_coding|6/11|c.619C>T|p.Arg207Cys|860/1645|619/1272|207/423||,A|missense_variant|MODERATE|TTLL1|ENSG00000100271|transcript|ENST00000331018|protein_coding|6/10|c.619C>T|p.Arg207Cys|860/1686|619/1185|207/394||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|3/11|c.619C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|10/11|c.619C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|8/11|c.619C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|4/11|c.619C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|6/11|c.619C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|9/11|c.619C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|7/11|c.619C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|5/11|c.619C>T||||||,A|3_prime_UTR_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|7/12|n.*543C>T|||||5967|,A|3_prime_UTR_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|7/12|n.*511C>T|||||5967|,A|non_coding_exon_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|7/12|n.*543C>T||||||,A|non_coding_exon_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|7/12|n.*511C>T|||||| 22 43460324 . C T . . ANN=T|synonymous_variant|LOW|TTLL1|ENSG00000100271|transcript|ENST00000266254|protein_coding|6/11|c.510G>A|p.Val170Val|751/1645|510/1272|170/423||,T|synonymous_variant|LOW|TTLL1|ENSG00000100271|transcript|ENST00000331018|protein_coding|6/10|c.510G>A|p.Val170Val|751/1686|510/1185|170/394||,T|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|3/11|c.510G>A||||||,T|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|10/11|c.510G>A||||||,T|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|8/11|c.510G>A||||||,T|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|4/11|c.510G>A||||||,T|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|6/11|c.510G>A||||||,T|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|9/11|c.510G>A||||||,T|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|7/11|c.510G>A||||||,T|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|5/11|c.510G>A||||||,T|3_prime_UTR_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|7/12|n.*434G>A|||||5858|,T|3_prime_UTR_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|7/12|n.*402G>A|||||5858|,T|non_coding_exon_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|7/12|n.*434G>A||||||,T|non_coding_exon_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|7/12|n.*402G>A|||||| 22 43460379 . C T . . ANN=T|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|3/11|c.504-49G>A||||||,T|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|10/11|c.504-49G>A||||||,T|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|8/11|c.504-49G>A||||||,T|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|4/11|c.504-49G>A||||||,T|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|6/11|c.504-49G>A||||||,T|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|9/11|c.504-49G>A||||||,T|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|7/11|c.504-49G>A||||||,T|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|5/11|c.504-49G>A||||||,T|intron_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000266254|protein_coding|5/10|c.504-49G>A||||||,T|intron_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000331018|protein_coding|5/9|c.504-49G>A||||||,T|intron_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|6/11|n.*428-49G>A||||||,T|intron_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|6/11|n.*396-49G>A|||||| 22 43464416 . G A . . ANN=A|missense_variant&splice_region_variant|MODERATE|TTLL1|ENSG00000100271|transcript|ENST00000266254|protein_coding|5/11|c.503C>T|p.Ser168Leu|744/1645|503/1272|168/423||,A|missense_variant&splice_region_variant|MODERATE|TTLL1|ENSG00000100271|transcript|ENST00000331018|protein_coding|5/10|c.503C>T|p.Ser168Leu|744/1686|503/1185|168/394||,A|splice_region_variant&non_coding_exon_variant|LOW|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|6/12|n.*427C>T||||||,A|splice_region_variant&non_coding_exon_variant|LOW|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|6/12|n.*395C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|3/11|c.503C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|10/11|c.503C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|8/11|c.503C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|4/11|c.503C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|6/11|c.503C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|9/11|c.503C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|7/11|c.503C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|5/11|c.503C>T||||||,A|3_prime_UTR_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|6/12|n.*427C>T|||||1766|,A|3_prime_UTR_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|6/12|n.*395C>T|||||1766|,A|downstream_gene_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000445824|protein_coding||c.*421C>T|||||1766| 22 43464436 . G C . . ANN=C|synonymous_variant|LOW|TTLL1|ENSG00000100271|transcript|ENST00000266254|protein_coding|5/11|c.483C>G|p.Ser161Ser|724/1645|483/1272|161/423||,C|synonymous_variant|LOW|TTLL1|ENSG00000100271|transcript|ENST00000331018|protein_coding|5/10|c.483C>G|p.Ser161Ser|724/1686|483/1185|161/394||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|3/11|c.483C>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|10/11|c.483C>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|8/11|c.483C>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|4/11|c.483C>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|6/11|c.483C>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|9/11|c.483C>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|7/11|c.483C>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|5/11|c.483C>G||||||,C|3_prime_UTR_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|6/12|n.*407C>G|||||1746|,C|3_prime_UTR_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|6/12|n.*375C>G|||||1746|,C|downstream_gene_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000445824|protein_coding||c.*421C>G|||||1746|,C|non_coding_exon_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|6/12|n.*407C>G||||||,C|non_coding_exon_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|6/12|n.*375C>G|||||| 22 43464544 . C T . . ANN=T|synonymous_variant|LOW|TTLL1|ENSG00000100271|transcript|ENST00000266254|protein_coding|5/11|c.375G>A|p.Glu125Glu|616/1645|375/1272|125/423||,T|synonymous_variant|LOW|TTLL1|ENSG00000100271|transcript|ENST00000331018|protein_coding|5/10|c.375G>A|p.Glu125Glu|616/1686|375/1185|125/394||,T|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|3/11|c.375G>A||||||,T|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|10/11|c.375G>A||||||,T|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|8/11|c.375G>A||||||,T|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|4/11|c.375G>A||||||,T|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|6/11|c.375G>A||||||,T|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|9/11|c.375G>A||||||,T|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|7/11|c.375G>A||||||,T|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|5/11|c.375G>A||||||,T|3_prime_UTR_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|6/12|n.*299G>A|||||1638|,T|3_prime_UTR_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|6/12|n.*267G>A|||||1638|,T|downstream_gene_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000445824|protein_coding||c.*421G>A|||||1638|,T|non_coding_exon_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|6/12|n.*299G>A||||||,T|non_coding_exon_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|6/12|n.*267G>A|||||| 22 43464621 . T G . . ANN=G|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|3/11|c.323-25A>C||||||,G|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|10/11|c.323-25A>C||||||,G|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|8/11|c.323-25A>C||||||,G|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|4/11|c.323-25A>C||||||,G|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|6/11|c.323-25A>C||||||,G|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|9/11|c.323-25A>C||||||,G|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|7/11|c.323-25A>C||||||,G|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|5/11|c.323-25A>C||||||,G|downstream_gene_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000445824|protein_coding||c.*421A>C|||||1561|,G|intron_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000266254|protein_coding|4/10|c.323-25A>C||||||,G|intron_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000331018|protein_coding|4/9|c.323-25A>C||||||,G|intron_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|5/11|n.*247-25A>C||||||,G|intron_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|5/11|n.*215-25A>C|||||| 22 43465650 . A C . . ANN=C|missense_variant|MODERATE|TTLL1|ENSG00000100271|transcript|ENST00000266254|protein_coding|4/11|c.314T>G|p.Leu105Arg|555/1645|314/1272|105/423||,C|missense_variant|MODERATE|TTLL1|ENSG00000100271|transcript|ENST00000331018|protein_coding|4/10|c.314T>G|p.Leu105Arg|555/1686|314/1185|105/394||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|3/11|c.314T>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|10/11|c.314T>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|8/11|c.314T>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|4/11|c.314T>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|6/11|c.314T>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|9/11|c.314T>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|7/11|c.314T>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|5/11|c.314T>G||||||,C|3_prime_UTR_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|5/12|n.*206T>G|||||532|,C|3_prime_UTR_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|5/12|n.*206T>G|||||532|,C|downstream_gene_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000445824|protein_coding||c.*421T>G|||||532|,C|non_coding_exon_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|5/12|n.*206T>G||||||,C|non_coding_exon_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|5/12|n.*206T>G|||||| 22 43465668 . T A . . ANN=A|missense_variant|MODERATE|TTLL1|ENSG00000100271|transcript|ENST00000266254|protein_coding|4/11|c.296A>T|p.Asp99Val|537/1645|296/1272|99/423||,A|missense_variant|MODERATE|TTLL1|ENSG00000100271|transcript|ENST00000331018|protein_coding|4/10|c.296A>T|p.Asp99Val|537/1686|296/1185|99/394||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|3/11|c.296A>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|10/11|c.296A>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|8/11|c.296A>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|4/11|c.296A>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|6/11|c.296A>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|9/11|c.296A>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|7/11|c.296A>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|5/11|c.296A>T||||||,A|3_prime_UTR_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|5/12|n.*188A>T|||||514|,A|3_prime_UTR_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|5/12|n.*188A>T|||||514|,A|downstream_gene_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000445824|protein_coding||c.*421A>T|||||514|,A|non_coding_exon_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|5/12|n.*188A>T||||||,A|non_coding_exon_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|5/12|n.*188A>T|||||| 22 43465814 . A G . . ANN=G|synonymous_variant|LOW|TTLL1|ENSG00000100271|transcript|ENST00000266254|protein_coding|4/11|c.150T>C|p.Val50Val|391/1645|150/1272|50/423||,G|synonymous_variant|LOW|TTLL1|ENSG00000100271|transcript|ENST00000331018|protein_coding|4/10|c.150T>C|p.Val50Val|391/1686|150/1185|50/394||,G|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|3/11|c.150T>C||||||,G|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|10/11|c.150T>C||||||,G|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|8/11|c.150T>C||||||,G|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|4/11|c.150T>C||||||,G|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|6/11|c.150T>C||||||,G|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|9/11|c.150T>C||||||,G|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|7/11|c.150T>C||||||,G|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|5/11|c.150T>C||||||,G|3_prime_UTR_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|5/12|n.*42T>C|||||368|,G|3_prime_UTR_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|5/12|n.*42T>C|||||368|,G|downstream_gene_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000445824|protein_coding||c.*421T>C|||||368|,G|non_coding_exon_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|5/12|n.*42T>C||||||,G|non_coding_exon_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|5/12|n.*42T>C|||||| 22 43465885 . G C . . ANN=C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|3/11|c.114-35C>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|10/11|c.114-35C>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|8/11|c.114-35C>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|4/11|c.114-35C>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|6/11|c.114-35C>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|9/11|c.114-35C>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|7/11|c.114-35C>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|5/11|c.114-35C>G||||||,C|downstream_gene_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000445824|protein_coding||c.*421C>G|||||297|,C|intron_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000266254|protein_coding|3/10|c.114-35C>G||||||,C|intron_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000331018|protein_coding|3/9|c.114-35C>G||||||,C|intron_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|4/11|n.*6-35C>G||||||,C|intron_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|4/11|n.*6-35C>G|||||| 22 43465887 . T C . . ANN=C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|3/11|c.114-37A>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|10/11|c.114-37A>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|8/11|c.114-37A>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|4/11|c.114-37A>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|6/11|c.114-37A>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|9/11|c.114-37A>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|7/11|c.114-37A>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|5/11|c.114-37A>G||||||,C|downstream_gene_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000445824|protein_coding||c.*421A>G|||||295|,C|intron_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000266254|protein_coding|3/10|c.114-37A>G||||||,C|intron_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000331018|protein_coding|3/9|c.114-37A>G||||||,C|intron_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|4/11|n.*6-37A>G||||||,C|intron_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|4/11|n.*6-37A>G|||||| 22 43471437 . G A . . ANN=A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|3/11|c.113+43C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|10/11|c.113+43C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|8/11|c.113+43C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|4/11|c.113+43C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|6/11|c.113+43C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|9/11|c.113+43C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|7/11|c.113+43C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|5/11|c.113+43C>T||||||,A|intron_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000266254|protein_coding|3/10|c.113+43C>T||||||,A|intron_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000331018|protein_coding|3/9|c.113+43C>T||||||,A|intron_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|3/11|n.113+43C>T||||||,A|intron_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|3/11|n.113+43C>T||||||,A|intron_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000445824|protein_coding|3/3|c.113+43C>T|||||| 22 43471560 . G A . . ANN=A|synonymous_variant|LOW|TTLL1|ENSG00000100271|transcript|ENST00000266254|protein_coding|3/11|c.33C>T|p.Ile11Ile|274/1645|33/1272|11/423||,A|synonymous_variant|LOW|TTLL1|ENSG00000100271|transcript|ENST00000331018|protein_coding|3/10|c.33C>T|p.Ile11Ile|274/1686|33/1185|11/394||,A|synonymous_variant|LOW|TTLL1|ENSG00000100271|transcript|ENST00000445824|protein_coding|3/4|c.33C>T|p.Ile11Ile|274/421|33/180|11/59||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|3/11|c.33C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|10/11|c.33C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|8/11|c.33C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|4/11|c.33C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|6/11|c.33C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|9/11|c.33C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|7/11|c.33C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|5/11|c.33C>T||||||,A|non_coding_exon_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|3/12|n.33C>T||||||,A|non_coding_exon_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|3/12|n.33C>T|||||| 22 43520017 . C G . . ANN=G|splice_region_variant&intron_variant|LOW|BIK|ENSG00000100290|transcript|ENST00000216115|protein_coding|1/4|c.-7-5C>G|||||| 22 43520105 . C T . . ANN=T|missense_variant|MODERATE|BIK|ENSG00000100290|transcript|ENST00000216115|protein_coding|2/5|c.77C>T|p.Thr26Ile|140/953|77/483|26/160|| 22 43520205 . C T . . ANN=T|intron_variant|MODIFIER|BIK|ENSG00000100290|transcript|ENST00000216115|protein_coding|2/4|c.161+16C>T|||||| 22 43520218 . T G . . ANN=G|intron_variant|MODIFIER|BIK|ENSG00000100290|transcript|ENST00000216115|protein_coding|2/4|c.161+29T>G|||||| 22 43523668 . C T . . ANN=T|downstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding||c.*1219G>A|||||4544|,T|intron_variant|MODIFIER|BIK|ENSG00000100290|transcript|ENST00000216115|protein_coding|2/4|c.162-35C>T|||||| 22 43523766 . G A . . ANN=A|synonymous_variant|LOW|BIK|ENSG00000100290|transcript|ENST00000216115|protein_coding|3/5|c.225G>A|p.Pro75Pro|288/953|225/483|75/160||,A|downstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding||c.*1219C>T|||||4446| 22 43524487 . CCT C . . ANN=|downstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding||c.*1219_*1219delAG|||||3724|,|downstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding||c.*559_*559delAG|||||4398|,|intron_variant|MODIFIER|BIK|ENSG00000100290|transcript|ENST00000216115|protein_coding|3/4|c.261-12_261-11delCT||||||INFO_REALIGN_3_PRIME 22 43524582 . T C . . ANN=C|missense_variant|MODERATE|BIK|ENSG00000100290|transcript|ENST00000216115|protein_coding|4/5|c.341T>C|p.Leu114Pro|404/953|341/483|114/160||,C|downstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding||c.*1219A>G|||||3630|,C|downstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding||c.*559A>G|||||4304| 22 43524587 . G A . . ANN=A|missense_variant|MODERATE|BIK|ENSG00000100290|transcript|ENST00000216115|protein_coding|4/5|c.346G>A|p.Glu116Lys|409/953|346/483|116/160||,A|downstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding||c.*1219C>T|||||3625|,A|downstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding||c.*559C>T|||||4299| 22 43524613 . C G . . ANN=G|synonymous_variant|LOW|BIK|ENSG00000100290|transcript|ENST00000216115|protein_coding|4/5|c.372C>G|p.Ser124Ser|435/953|372/483|124/160||,G|downstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding||c.*1219G>C|||||3599|,G|downstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding||c.*559G>C|||||4273| 22 43524655 . C G . . ANN=G|downstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding||c.*1219G>C|||||3557|,G|downstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding||c.*559G>C|||||4231|,G|intron_variant|MODIFIER|BIK|ENSG00000100290|transcript|ENST00000216115|protein_coding|4/4|c.390+24C>G|||||| 22 43524665 . G A . . ANN=A|downstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding||c.*1219C>T|||||3547|,A|downstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding||c.*559C>T|||||4221|,A|intron_variant|MODIFIER|BIK|ENSG00000100290|transcript|ENST00000216115|protein_coding|4/4|c.390+34G>A|||||| 22 43525176 . C T . . ANN=T|downstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding||c.*1219G>A|||||3036|,T|downstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding||c.*559G>A|||||3710|,T|intron_variant|MODIFIER|BIK|ENSG00000100290|transcript|ENST00000216115|protein_coding|4/4|c.391-43C>T|||||| 22 43525197 . C T . . ANN=T|downstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding||c.*1219G>A|||||3015|,T|downstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding||c.*559G>A|||||3689|,T|intron_variant|MODIFIER|BIK|ENSG00000100290|transcript|ENST00000216115|protein_coding|4/4|c.391-22C>T|||||| 22 43525231 . C T . . ANN=T|stop_gained|HIGH|BIK|ENSG00000100290|transcript|ENST00000216115|protein_coding|5/5|c.403C>T|p.Gln135*|466/953|403/483|135/160||,T|downstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding||c.*1219G>A|||||2981|,T|downstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding||c.*559G>A|||||3655| 22 43525234 . GTGCTGCTGGCGCTGCTGC G . . ANN=|disruptive_inframe_deletion|MODERATE|BIK|ENSG00000100290|transcript|ENST00000216115|protein_coding|5/5|c.428_445delTGCTGGCGCTGCTGCTGC|p.Leu143_Leu148del|491/953|428/483|143/160||INFO_REALIGN_3_PRIME,|sequence_feature|LOW|BIK|ENSG00000100290|transmembrane_region:Transmembrane_region|ENST00000216115|protein_coding|5/5|c.407_424delTGCTGCTGGCGCTGCTGC||||||,|sequence_feature|LOW|BIK|ENSG00000100290|region_of_interest:Leucine-zipper|ENST00000216115|protein_coding|5/5|c.407_424delTGCTGCTGGCGCTGCTGC||||||,|downstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding||c.*1219_*1219delGCAGCAGCGCCAGCAGCA|||||2977|,|downstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding||c.*559_*559delGCAGCAGCGCCAGCAGCA|||||3651| 22 43525262 . C T . . ANN=T|missense_variant|MODERATE|BIK|ENSG00000100290|transcript|ENST00000216115|protein_coding|5/5|c.434C>T|p.Ala145Val|497/953|434/483|145/160||,T|sequence_feature|LOW|BIK|ENSG00000100290|transmembrane_region:Transmembrane_region|ENST00000216115|protein_coding|5/5|c.434C>T||||||,T|sequence_feature|LOW|BIK|ENSG00000100290|region_of_interest:Leucine-zipper|ENST00000216115|protein_coding|5/5|c.434C>T||||||,T|downstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding||c.*1219G>A|||||2950|,T|downstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding||c.*559G>A|||||3624| 22 43525278 . G A . . ANN=A|synonymous_variant|LOW|BIK|ENSG00000100290|transcript|ENST00000216115|protein_coding|5/5|c.450G>A|p.Leu150Leu|513/953|450/483|150/160||,A|sequence_feature|LOW|BIK|ENSG00000100290|transmembrane_region:Transmembrane_region|ENST00000216115|protein_coding|5/5|c.450G>A||||||,A|sequence_feature|LOW|BIK|ENSG00000100290|region_of_interest:Leucine-zipper|ENST00000216115|protein_coding|5/5|c.450G>A||||||,A|downstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding||c.*1219C>T|||||2934|,A|downstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding||c.*559C>T|||||3608| 22 43525285 . G A . . ANN=A|missense_variant|MODERATE|BIK|ENSG00000100290|transcript|ENST00000216115|protein_coding|5/5|c.457G>A|p.Gly153Arg|520/953|457/483|153/160||,A|sequence_feature|LOW|BIK|ENSG00000100290|transmembrane_region:Transmembrane_region|ENST00000216115|protein_coding|5/5|c.457G>A||||||,A|sequence_feature|LOW|BIK|ENSG00000100290|region_of_interest:Leucine-zipper|ENST00000216115|protein_coding|5/5|c.457G>A||||||,A|sequence_feature|LOW|BIK|ENSG00000100290|cleavage_site:Cleavage|ENST00000216115|protein_coding|5/5|c.457G>A||||||,A|downstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding||c.*1219C>T|||||2927|,A|downstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding||c.*559C>T|||||3601| 22 43525315 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|BIK|ENSG00000100290|transcript|ENST00000216115|protein_coding|5/5|c.*4C>T|||||4|,T|downstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding||c.*1219G>A|||||2897|,T|downstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding||c.*559G>A|||||3571| 22 43525321 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|BIK|ENSG00000100290|transcript|ENST00000216115|protein_coding|5/5|c.*10G>A|||||10|,A|downstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding||c.*1219C>T|||||2891|,A|downstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding||c.*559C>T|||||3565| 22 43525331 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|BIK|ENSG00000100290|transcript|ENST00000216115|protein_coding|5/5|c.*20G>A|||||20|,A|downstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding||c.*1219C>T|||||2881|,A|downstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding||c.*559C>T|||||3555| 22 43525332 . G T . . ANN=T|3_prime_UTR_variant|MODIFIER|BIK|ENSG00000100290|transcript|ENST00000216115|protein_coding|5/5|c.*21G>T|||||21|,T|downstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding||c.*1219C>A|||||2880|,T|downstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding||c.*559C>A|||||3554| 22 43529016 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding|4/4|c.*33G>A|||||33|,T|3_prime_UTR_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding|3/3|c.*445G>A|||||445|,T|downstream_gene_variant|MODIFIER|BIK|ENSG00000100290|transcript|ENST00000216115|protein_coding||c.*546C>T|||||3298| 22 43529020 . G T . . ANN=T|3_prime_UTR_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding|4/4|c.*29C>A|||||29|,T|3_prime_UTR_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding|3/3|c.*441C>A|||||441|,T|downstream_gene_variant|MODIFIER|BIK|ENSG00000100290|transcript|ENST00000216115|protein_coding||c.*546G>T|||||3302| 22 43529024 . G T . . ANN=T|3_prime_UTR_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding|4/4|c.*25C>A|||||25|,T|3_prime_UTR_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding|3/3|c.*437C>A|||||437|,T|downstream_gene_variant|MODIFIER|BIK|ENSG00000100290|transcript|ENST00000216115|protein_coding||c.*546G>T|||||3306| 22 43529029 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding|4/4|c.*20G>A|||||20|,T|3_prime_UTR_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding|3/3|c.*432G>A|||||432|,T|downstream_gene_variant|MODIFIER|BIK|ENSG00000100290|transcript|ENST00000216115|protein_coding||c.*546C>T|||||3311| 22 43529059 . G A . . ANN=A|missense_variant|MODERATE|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding|4/4|c.1163C>T|p.Pro388Leu|1209/2056|1163/1173|388/390||,A|3_prime_UTR_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding|3/3|c.*402C>T|||||402|,A|downstream_gene_variant|MODIFIER|BIK|ENSG00000100290|transcript|ENST00000216115|protein_coding||c.*546G>A|||||3341| 22 43529061 . C A . . ANN=A|missense_variant|MODERATE|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding|4/4|c.1161G>T|p.Glu387Asp|1207/2056|1161/1173|387/390||,A|3_prime_UTR_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding|3/3|c.*400G>T|||||400|,A|downstream_gene_variant|MODIFIER|BIK|ENSG00000100290|transcript|ENST00000216115|protein_coding||c.*546C>A|||||3343| 22 43529094 . C G . . ANN=G|missense_variant|MODERATE|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding|4/4|c.1128G>C|p.Gln376His|1174/2056|1128/1173|376/390||,G|3_prime_UTR_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding|3/3|c.*367G>C|||||367|,G|downstream_gene_variant|MODIFIER|BIK|ENSG00000100290|transcript|ENST00000216115|protein_coding||c.*546C>G|||||3376| 22 43529138 . T C . . ANN=C|missense_variant|MODERATE|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding|4/4|c.1084A>G|p.Asn362Asp|1130/2056|1084/1173|362/390||,C|3_prime_UTR_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding|3/3|c.*323A>G|||||323|,C|downstream_gene_variant|MODIFIER|BIK|ENSG00000100290|transcript|ENST00000216115|protein_coding||c.*546T>C|||||3420| 22 43529314 . G C . . ANN=C|missense_variant|MODERATE|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding|4/4|c.908C>G|p.Ala303Gly|954/2056|908/1173|303/390||,C|sequence_feature|LOW|MCAT|ENSG00000100294|beta_strand|ENST00000290429|protein_coding|4/4|c.908C>G||||||,C|3_prime_UTR_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding|3/3|c.*147C>G|||||147|,C|downstream_gene_variant|MODIFIER|BIK|ENSG00000100290|transcript|ENST00000216115|protein_coding||c.*546G>C|||||3596| 22 43529321 . C T . . ANN=T|missense_variant|MODERATE|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding|4/4|c.901G>A|p.Val301Ile|947/2056|901/1173|301/390||,T|sequence_feature|LOW|MCAT|ENSG00000100294|turn|ENST00000290429|protein_coding|4/4|c.901G>A||||||,T|3_prime_UTR_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding|3/3|c.*140G>A|||||140|,T|downstream_gene_variant|MODIFIER|BIK|ENSG00000100290|transcript|ENST00000216115|protein_coding||c.*546C>T|||||3603| 22 43529322 . G A . . ANN=A|synonymous_variant|LOW|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding|4/4|c.900C>T|p.Asn300Asn|946/2056|900/1173|300/390||,A|sequence_feature|LOW|MCAT|ENSG00000100294|turn|ENST00000290429|protein_coding|4/4|c.900C>T||||||,A|3_prime_UTR_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding|3/3|c.*139C>T|||||139|,A|downstream_gene_variant|MODIFIER|BIK|ENSG00000100290|transcript|ENST00000216115|protein_coding||c.*546G>A|||||3604| 22 43529323 . T C . . ANN=C|missense_variant|MODERATE|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding|4/4|c.899A>G|p.Asn300Ser|945/2056|899/1173|300/390||,C|sequence_feature|LOW|MCAT|ENSG00000100294|turn|ENST00000290429|protein_coding|4/4|c.899A>G||||||,C|3_prime_UTR_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding|3/3|c.*138A>G|||||138|,C|downstream_gene_variant|MODIFIER|BIK|ENSG00000100290|transcript|ENST00000216115|protein_coding||c.*546T>C|||||3605| 22 43529393 . C T . . ANN=T|missense_variant|MODERATE|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding|4/4|c.829G>A|p.Ala277Thr|875/2056|829/1173|277/390||,T|sequence_feature|LOW|MCAT|ENSG00000100294|helix|ENST00000290429|protein_coding|4/4|c.829G>A||||||,T|3_prime_UTR_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding|3/3|c.*68G>A|||||68|,T|downstream_gene_variant|MODIFIER|BIK|ENSG00000100290|transcript|ENST00000216115|protein_coding||c.*546C>T|||||3675| 22 43529408 . G A . . ANN=A|missense_variant|MODERATE|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding|4/4|c.814C>T|p.Arg272Cys|860/2056|814/1173|272/390||,A|sequence_feature|LOW|MCAT|ENSG00000100294|helix|ENST00000290429|protein_coding|4/4|c.814C>T||||||,A|3_prime_UTR_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding|3/3|c.*53C>T|||||53|,A|downstream_gene_variant|MODIFIER|BIK|ENSG00000100290|transcript|ENST00000216115|protein_coding||c.*546G>A|||||3690| 22 43529517 . C T . . ANN=T|sequence_feature|LOW|MCAT|ENSG00000100294|helix|ENST00000290429|protein_coding|3/4|c.730-25G>A||||||,T|sequence_feature|LOW|MCAT|ENSG00000100294|helix|ENST00000290429|protein_coding|4/4|c.730-25G>A||||||,T|downstream_gene_variant|MODIFIER|BIK|ENSG00000100290|transcript|ENST00000216115|protein_coding||c.*546C>T|||||3799|,T|intron_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding|3/3|c.730-25G>A||||||,T|intron_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding|2/2|c.512-25G>A|||||| 22 43533044 . C T . . ANN=T|sequence_feature|LOW|MCAT|ENSG00000100294|helix|ENST00000290429|protein_coding|3/4|c.729+43G>A||||||,T|sequence_feature|LOW|MCAT|ENSG00000100294|helix|ENST00000290429|protein_coding|4/4|c.729+43G>A||||||,T|downstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000608052|protein_coding||c.*264G>A|||||3792|,T|downstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000464244|processed_transcript||n.*549G>A|||||4018|,T|intron_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding|3/3|c.729+43G>A||||||,T|intron_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding|2/2|c.512-3552G>A|||||| 22 43533105 . C G . . ANN=G|synonymous_variant|LOW|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding|3/4|c.711G>C|p.Val237Val|757/2056|711/1173|237/390||,G|sequence_feature|LOW|MCAT|ENSG00000100294|beta_strand|ENST00000290429|protein_coding|3/4|c.711G>C||||||,G|downstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000608052|protein_coding||c.*264G>C|||||3731|,G|downstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000464244|processed_transcript||n.*549G>C|||||3957|,G|intron_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding|2/2|c.512-3613G>C|||||| 22 43533146 . C T . . ANN=T|missense_variant|MODERATE|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding|3/4|c.670G>A|p.Val224Ile|716/2056|670/1173|224/390||,T|downstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000608052|protein_coding||c.*264G>A|||||3690|,T|downstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000464244|processed_transcript||n.*549G>A|||||3916|,T|intron_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding|2/2|c.512-3654G>A|||||| 22 43533221 . G A . . ANN=A|stop_gained|HIGH|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding|3/4|c.595C>T|p.Gln199*|641/2056|595/1173|199/390||,A|downstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000608052|protein_coding||c.*264C>T|||||3615|,A|downstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000464244|processed_transcript||n.*549C>T|||||3841|,A|intron_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding|2/2|c.512-3729C>T||||||;LOF=(MCAT|ENSG00000100294|4|0.25);NMD=(MCAT|ENSG00000100294|4|0.25) 22 43533222 . G A . . ANN=A|synonymous_variant|LOW|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding|3/4|c.594C>T|p.Gly198Gly|640/2056|594/1173|198/390||,A|downstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000608052|protein_coding||c.*264C>T|||||3614|,A|downstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000464244|processed_transcript||n.*549C>T|||||3840|,A|intron_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding|2/2|c.512-3730C>T|||||| 22 43538965 . G C . . ANN=C|synonymous_variant|LOW|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding|1/4|c.390C>G|p.Ala130Ala|436/2056|390/1173|130/390||,C|synonymous_variant|LOW|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding|1/3|c.390C>G|p.Ala130Ala|406/1134|390/543|130/180||,C|synonymous_variant|LOW|MCAT|ENSG00000100294|transcript|ENST00000608052|protein_coding|1/2|c.6C>G|p.Ala2Ala|6/459|6/264|2/87||,C|sequence_feature|LOW|MCAT|ENSG00000100294|helix|ENST00000290429|protein_coding|1/4|c.390C>G||||||,C|sequence_feature|LOW|MCAT|ENSG00000100294|helix|ENST00000327555|protein_coding|1/3|c.390C>G||||||,C|non_coding_exon_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000464244|processed_transcript|1/2|n.322C>G|||||| 22 43539120 . G C . . ANN=C|missense_variant|MODERATE|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding|1/4|c.235C>G|p.Arg79Gly|281/2056|235/1173|79/390||,C|missense_variant|MODERATE|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding|1/3|c.235C>G|p.Arg79Gly|251/1134|235/543|79/180||,C|sequence_feature|LOW|MCAT|ENSG00000100294|turn|ENST00000290429|protein_coding|1/4|c.235C>G||||||,C|sequence_feature|LOW|MCAT|ENSG00000100294|turn|ENST00000327555|protein_coding|1/3|c.235C>G||||||,C|upstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000608052|protein_coding||c.-1C>G|||||150|,C|non_coding_exon_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000464244|processed_transcript|1/2|n.167C>G|||||| 22 43539246 . C T . . ANN=T|missense_variant|MODERATE|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding|1/4|c.109G>A|p.Glu37Lys|155/2056|109/1173|37/390||,T|missense_variant|MODERATE|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding|1/3|c.109G>A|p.Glu37Lys|125/1134|109/543|37/180||,T|upstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000608052|protein_coding||c.-1G>A|||||276|,T|non_coding_exon_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000464244|processed_transcript|1/2|n.41G>A|||||| 22 43539279 . G A . . ANN=A|missense_variant|MODERATE|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding|1/4|c.76C>T|p.Pro26Ser|122/2056|76/1173|26/390||,A|missense_variant|MODERATE|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding|1/3|c.76C>T|p.Pro26Ser|92/1134|76/543|26/180||,A|upstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000608052|protein_coding||c.-1C>T|||||309|,A|non_coding_exon_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000464244|processed_transcript|1/2|n.8C>T|||||| 22 43539375 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding|1/4|c.-21C>T|||||21|,A|upstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding||c.-17C>T|||||5|,A|upstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000608052|protein_coding||c.-1C>T|||||405|,A|upstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000464244|processed_transcript||n.-1C>T|||||89| 22 43555285 . C T . . ANN=T|missense_variant|MODERATE|TSPO|ENSG00000100300|transcript|ENST00000329563|protein_coding|2/4|c.41C>T|p.Ala14Val|267/955|41/510|14/169||,T|missense_variant|MODERATE|TSPO|ENSG00000100300|transcript|ENST00000337554|protein_coding|2/4|c.41C>T|p.Ala14Val|161/881|41/510|14/169||,T|missense_variant|MODERATE|TSPO|ENSG00000100300|transcript|ENST00000428336|protein_coding|2/3|c.41C>T|p.Ala14Val|392/672|41/321|14/106||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|TSPO|ENSG00000100300|transmembrane_region:Transmembrane_region|ENST00000337554|protein_coding|2/4|c.41C>T||||||,T|intron_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000396265|protein_coding|1/2|c.-99-1773C>T||||||,T|intron_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000583777|protein_coding|1/2|c.-130-1773C>T||||||,T|non_coding_exon_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000472378|retained_intron|2/2|n.102C>T|||||| 22 43555337 . C T . . ANN=T|synonymous_variant|LOW|TSPO|ENSG00000100300|transcript|ENST00000329563|protein_coding|2/4|c.93C>T|p.Leu31Leu|319/955|93/510|31/169||,T|synonymous_variant|LOW|TSPO|ENSG00000100300|transcript|ENST00000337554|protein_coding|2/4|c.93C>T|p.Leu31Leu|213/881|93/510|31/169||,T|synonymous_variant|LOW|TSPO|ENSG00000100300|transcript|ENST00000428336|protein_coding|2/3|c.93C>T|p.Leu31Leu|444/672|93/321|31/106||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|TSPO|ENSG00000100300|topological_domain:Cytoplasmic|ENST00000337554|protein_coding|2/4|c.93C>T||||||,T|intron_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000396265|protein_coding|1/2|c.-99-1721C>T||||||,T|intron_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000583777|protein_coding|1/2|c.-130-1721C>T||||||,T|non_coding_exon_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000472378|retained_intron|2/2|n.154C>T|||||| 22 43555409 . G A . . ANN=A|synonymous_variant|LOW|TSPO|ENSG00000100300|transcript|ENST00000329563|protein_coding|2/4|c.165G>A|p.Thr55Thr|391/955|165/510|55/169||,A|synonymous_variant|LOW|TSPO|ENSG00000100300|transcript|ENST00000337554|protein_coding|2/4|c.165G>A|p.Thr55Thr|285/881|165/510|55/169||,A|synonymous_variant|LOW|TSPO|ENSG00000100300|transcript|ENST00000428336|protein_coding|2/3|c.165G>A|p.Thr55Thr|516/672|165/321|55/106||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|TSPO|ENSG00000100300|transmembrane_region:Transmembrane_region|ENST00000337554|protein_coding|2/4|c.165G>A||||||,A|sequence_feature|LOW|TSPO|ENSG00000100300|transmembrane_region:Transmembrane_region|ENST00000337554|protein_coding|3/4|c.165G>A||||||,A|intron_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000396265|protein_coding|1/2|c.-99-1649G>A||||||,A|intron_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000583777|protein_coding|1/2|c.-130-1649G>A||||||,A|non_coding_exon_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000472378|retained_intron|2/2|n.226G>A|||||| 22 43557008 . G A . . ANN=A|sequence_feature|LOW|TSPO|ENSG00000100300|transmembrane_region:Transmembrane_region|ENST00000337554|protein_coding|2/4|c.183-50G>A||||||,A|sequence_feature|LOW|TSPO|ENSG00000100300|transmembrane_region:Transmembrane_region|ENST00000337554|protein_coding|3/4|c.183-50G>A||||||,A|downstream_gene_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000472378|retained_intron||n.*495G>A|||||1330|,A|intron_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000329563|protein_coding|2/3|c.183-50G>A||||||,A|intron_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000337554|protein_coding|2/3|c.183-50G>A||||||,A|intron_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000396265|protein_coding|1/2|c.-99-50G>A||||||,A|intron_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000583777|protein_coding|1/2|c.-130-50G>A||||||,A|intron_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000428336|protein_coding|2/2|c.183-50G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 43557156 . C T . . ANN=T|missense_variant|MODERATE|TSPO|ENSG00000100300|transcript|ENST00000329563|protein_coding|3/4|c.281C>T|p.Ala94Val|507/955|281/510|94/169||,T|missense_variant|MODERATE|TSPO|ENSG00000100300|transcript|ENST00000337554|protein_coding|3/4|c.281C>T|p.Ala94Val|401/881|281/510|94/169||,T|missense_variant|MODERATE|TSPO|ENSG00000100300|transcript|ENST00000428336|protein_coding|3/3|c.281C>T|p.Ala94Val|632/672|281/321|94/106||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|TSPO|ENSG00000100300|transmembrane_region:Transmembrane_region|ENST00000337554|protein_coding|3/4|c.281C>T||||||,T|5_prime_UTR_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000396265|protein_coding|2/3|c.-1C>T|||||1|,T|5_prime_UTR_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000583777|protein_coding|2/3|c.-32C>T|||||32|,T|downstream_gene_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000472378|retained_intron||n.*495C>T|||||1478| 22 43558843 . C T . . ANN=T|missense_variant|MODERATE|TSPO|ENSG00000100300|transcript|ENST00000329563|protein_coding|4/4|c.356C>T|p.Ala119Val|582/955|356/510|119/169||,T|missense_variant|MODERATE|TSPO|ENSG00000100300|transcript|ENST00000337554|protein_coding|4/4|c.356C>T|p.Ala119Val|476/881|356/510|119/169||,T|missense_variant|MODERATE|TSPO|ENSG00000100300|transcript|ENST00000583777|protein_coding|3/3|c.44C>T|p.Ala15Val|232/636|44/198|15/65||,T|synonymous_variant|LOW|TSPO|ENSG00000100300|transcript|ENST00000396265|protein_coding|3/3|c.75C>T|p.Gly25Gly|250/654|75/309|25/102||,T|sequence_feature|LOW|TSPO|ENSG00000100300|transmembrane_region:Transmembrane_region|ENST00000337554|protein_coding|4/4|c.356C>T||||||,T|sequence_feature|LOW|TSPO|ENSG00000100300|transmembrane_region:Transmembrane_region|ENST00000337554|protein_coding|3/4|c.356C>T||||||,T|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding||c.*1999G>A|||||3785|,T|downstream_gene_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000472378|retained_intron||n.*495C>T|||||3165|,T|downstream_gene_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000428336|protein_coding||c.*672C>T|||||1647|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron||n.*2451G>A|||||3786|,T|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.*483G>A|||||4766| 22 43558926 . A G . . ANN=G|missense_variant|MODERATE|TSPO|ENSG00000100300|transcript|ENST00000329563|protein_coding|4/4|c.439A>G|p.Thr147Ala|665/955|439/510|147/169||,G|missense_variant|MODERATE|TSPO|ENSG00000100300|transcript|ENST00000337554|protein_coding|4/4|c.439A>G|p.Thr147Ala|559/881|439/510|147/169||,G|missense_variant|MODERATE|TSPO|ENSG00000100300|transcript|ENST00000396265|protein_coding|3/3|c.158A>G|p.His53Arg|333/654|158/309|53/102||,G|missense_variant|MODERATE|TSPO|ENSG00000100300|transcript|ENST00000583777|protein_coding|3/3|c.127A>G|p.Thr43Ala|315/636|127/198|43/65||,G|sequence_feature|LOW|TSPO|ENSG00000100300|transmembrane_region:Transmembrane_region|ENST00000337554|protein_coding|4/4|c.439A>G||||||,G|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding||c.*1999T>C|||||3702|,G|downstream_gene_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000472378|retained_intron||n.*495A>G|||||3248|,G|downstream_gene_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000428336|protein_coding||c.*672A>G|||||1730|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron||n.*2451T>C|||||3703|,G|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.*483T>C|||||4683| 22 43558972 . G A . . ANN=A|missense_variant|MODERATE|TSPO|ENSG00000100300|transcript|ENST00000329563|protein_coding|4/4|c.485G>A|p.Arg162His|711/955|485/510|162/169||,A|missense_variant|MODERATE|TSPO|ENSG00000100300|transcript|ENST00000337554|protein_coding|4/4|c.485G>A|p.Arg162His|605/881|485/510|162/169||,A|missense_variant|MODERATE|TSPO|ENSG00000100300|transcript|ENST00000583777|protein_coding|3/3|c.173G>A|p.Arg58His|361/636|173/198|58/65||,A|synonymous_variant|LOW|TSPO|ENSG00000100300|transcript|ENST00000396265|protein_coding|3/3|c.204G>A|p.Ala68Ala|379/654|204/309|68/102||,A|sequence_feature|LOW|TSPO|ENSG00000100300|topological_domain:Cytoplasmic|ENST00000337554|protein_coding|4/4|c.485G>A||||||,A|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding||c.*1999C>T|||||3656|,A|downstream_gene_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000472378|retained_intron||n.*495G>A|||||3294|,A|downstream_gene_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000428336|protein_coding||c.*672G>A|||||1776|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron||n.*2451C>T|||||3657|,A|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.*483C>T|||||4637| 22 43558999 . T G . . ANN=G|missense_variant|MODERATE|TSPO|ENSG00000100300|transcript|ENST00000396265|protein_coding|3/3|c.231T>G|p.Ser77Arg|406/654|231/309|77/102||,G|3_prime_UTR_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000329563|protein_coding|4/4|c.*2T>G|||||2|,G|3_prime_UTR_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000337554|protein_coding|4/4|c.*2T>G|||||2|,G|3_prime_UTR_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000583777|protein_coding|3/3|c.*2T>G|||||2|,G|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding||c.*1999A>C|||||3629|,G|downstream_gene_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000472378|retained_intron||n.*495T>G|||||3321|,G|downstream_gene_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000428336|protein_coding||c.*672T>G|||||1803|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron||n.*2451A>C|||||3630|,G|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.*483A>C|||||4610| 22 43559056 . G A . . ANN=A|synonymous_variant|LOW|TSPO|ENSG00000100300|transcript|ENST00000396265|protein_coding|3/3|c.288G>A|p.Val96Val|463/654|288/309|96/102||,A|3_prime_UTR_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000329563|protein_coding|4/4|c.*59G>A|||||59|,A|3_prime_UTR_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000337554|protein_coding|4/4|c.*59G>A|||||59|,A|3_prime_UTR_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000583777|protein_coding|3/3|c.*59G>A|||||59|,A|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding||c.*1999C>T|||||3572|,A|downstream_gene_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000472378|retained_intron||n.*495G>A|||||3378|,A|downstream_gene_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000428336|protein_coding||c.*672G>A|||||1860|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron||n.*2451C>T|||||3573|,A|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.*483C>T|||||4553| 22 43563998 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|14/14|c.*16A>G|||||16|,C|3_prime_UTR_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding|4/4|c.*16A>G|||||16|,C|downstream_gene_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000329563|protein_coding||c.*736T>C|||||4782|,C|downstream_gene_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000337554|protein_coding||c.*630T>C|||||4750|,C|downstream_gene_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000396265|protein_coding||c.*484T>C|||||4751|,C|downstream_gene_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000583777|protein_coding||c.*386T>C|||||4751|,C|non_coding_exon_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron|3/3|n.1082A>G|||||| 22 43564050 . G C . . ANN=C|missense_variant|MODERATE|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|14/14|c.1899C>G|p.Asp633Glu|1963/3385|1899/1935|633/644||,C|missense_variant|MODERATE|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding|4/4|c.162C>G|p.Asp54Glu|447/888|162/198|54/65||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.1899C>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.1899C>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.1899C>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.1899C>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.1899C>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.1899C>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.1899C>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.1899C>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.1899C>G||||||,C|downstream_gene_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000329563|protein_coding||c.*736G>C|||||4834|,C|downstream_gene_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000337554|protein_coding||c.*630G>C|||||4802|,C|downstream_gene_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000396265|protein_coding||c.*484G>C|||||4803|,C|downstream_gene_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000583777|protein_coding||c.*386G>C|||||4803|,C|non_coding_exon_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron|3/3|n.1030C>G|||||| 22 43564146 . C A . . ANN=A|synonymous_variant|LOW|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|14/14|c.1803G>T|p.Pro601Pro|1867/3385|1803/1935|601/644||,A|synonymous_variant|LOW|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding|4/4|c.66G>T|p.Pro22Pro|351/888|66/198|22/65||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.1803G>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.1803G>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.1803G>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.1803G>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.1803G>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.1803G>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.1803G>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.1803G>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.1803G>T||||||,A|downstream_gene_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000329563|protein_coding||c.*736C>A|||||4930|,A|downstream_gene_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000337554|protein_coding||c.*630C>A|||||4898|,A|downstream_gene_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000396265|protein_coding||c.*484C>A|||||4899|,A|downstream_gene_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000583777|protein_coding||c.*386C>A|||||4899|,A|non_coding_exon_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron|3/3|n.934G>T|||||| 22 43564733 . A AG . . ANN=G|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.1783+46dupC||||||,G|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.1783+46dupC||||||,G|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.1783+46dupC||||||,G|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.1783+46dupC||||||,G|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.1783+46dupC||||||,G|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.1783+46dupC||||||,G|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.1783+46dupC||||||,G|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.1783+46dupC||||||,G|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.1783+46dupC||||||,G|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|13/13|c.1783+46dupC||||||,G|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron|2/2|n.914+46dupC||||||,G|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding|3/3|c.46+46dupC|||||| 22 43564814 . G A . . ANN=A|synonymous_variant|LOW|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|13/14|c.1749C>T|p.Val583Val|1813/3385|1749/1935|583/644||,A|synonymous_variant|LOW|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding|3/4|c.12C>T|p.Val4Val|297/888|12/198|4/65||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.1749C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.1749C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.1749C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.1749C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.1749C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.1749C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.1749C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.1749C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.1749C>T||||||,A|non_coding_exon_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron|2/3|n.880C>T|||||| 22 43564860 . G A . . ANN=A|missense_variant|MODERATE|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|13/14|c.1703C>T|p.Pro568Leu|1767/3385|1703/1935|568/644||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.1703C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.1703C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.1703C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.1703C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.1703C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.1703C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.1703C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.1703C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.1703C>T||||||,A|5_prime_UTR_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding|3/4|c.-35C>T|||||35|,A|non_coding_exon_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron|2/3|n.834C>T|||||| 22 43564923 . G T . . ANN=T|splice_region_variant&intron_variant|LOW|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|12/13|c.1645-5C>A||||||,T|splice_region_variant&intron_variant|LOW|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron|1/2|n.776-5C>A||||||,T|splice_region_variant&intron_variant|LOW|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding|2/3|c.-93-5C>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.1645-5C>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.1645-5C>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.1645-5C>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.1645-5C>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.1645-5C>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.1645-5C>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.1645-5C>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.1645-5C>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.1645-5C>A|||||| 22 43564963 . C G . . ANN=G|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.1645-45G>C||||||,G|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.1645-45G>C||||||,G|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.1645-45G>C||||||,G|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.1645-45G>C||||||,G|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.1645-45G>C||||||,G|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.1645-45G>C||||||,G|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.1645-45G>C||||||,G|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.1645-45G>C||||||,G|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.1645-45G>C||||||,G|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|12/13|c.1645-45G>C||||||,G|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron|1/2|n.776-45G>C||||||,G|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding|2/3|c.-93-45G>C|||||| 22 43565459 . C T . . ANN=T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.1644+47G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.1644+47G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.1644+47G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.1644+47G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.1644+47G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.1644+47G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.1644+47G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.1644+47G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.1644+47G>A||||||,T|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.*636G>A|||||4840|,T|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|12/13|c.1644+47G>A||||||,T|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron|1/2|n.775+47G>A||||||,T|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding|2/3|c.-94+47G>A|||||| 22 43565460 . G A . . ANN=A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.1644+46C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.1644+46C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.1644+46C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.1644+46C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.1644+46C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.1644+46C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.1644+46C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.1644+46C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.1644+46C>T||||||,A|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.*636C>T|||||4839|,A|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|12/13|c.1644+46C>T||||||,A|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron|1/2|n.775+46C>T||||||,A|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding|2/3|c.-94+46C>T|||||| 22 43565473 . C T . . ANN=T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.1644+33G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.1644+33G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.1644+33G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.1644+33G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.1644+33G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.1644+33G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.1644+33G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.1644+33G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.1644+33G>A||||||,T|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.*636G>A|||||4826|,T|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|12/13|c.1644+33G>A||||||,T|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron|1/2|n.775+33G>A||||||,T|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding|2/3|c.-94+33G>A|||||| 22 43565515 . C T . . ANN=T|synonymous_variant|LOW|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|12/14|c.1635G>A|p.Thr545Thr|1699/3385|1635/1935|545/644||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.1635G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.1635G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.1635G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.1635G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.1635G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.1635G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.1635G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.1635G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.1635G>A||||||,T|5_prime_UTR_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding|2/4|c.-103G>A|||||690|,T|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.*636G>A|||||4784|,T|non_coding_exon_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron|1/3|n.766G>A|||||| 22 43565516 . G A . . ANN=A|missense_variant|MODERATE|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|12/14|c.1634C>T|p.Thr545Met|1698/3385|1634/1935|545/644||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding|2/4|c.-104C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.1634C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.1634C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.1634C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.1634C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.1634C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.1634C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.1634C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.1634C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.1634C>T||||||,A|5_prime_UTR_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding|2/4|c.-104C>T|||||691|,A|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.*636C>T|||||4783|,A|non_coding_exon_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron|1/3|n.765C>T|||||| 22 43565600 . G A . . ANN=A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.1576-26C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.1576-26C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.1576-26C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.1576-26C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.1576-26C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.1576-26C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.1576-26C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.1576-26C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.1576-26C>T||||||,A|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.*636C>T|||||4699|,A|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|11/13|c.1576-26C>T||||||,A|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding|1/3|c.-162-26C>T||||||,A|non_coding_exon_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron|1/3|n.681C>T|||||| 22 43567789 . T C . . ANN=C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.1575+36A>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.1575+36A>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.1575+36A>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.1575+36A>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.1575+36A>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.1575+36A>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.1575+36A>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.1575+36A>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.1575+36A>G||||||,C|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron||n.-1A>G|||||1509|,C|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.-286A>G|||||33|,C|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.*636A>G|||||2510|,C|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|11/13|c.1575+36A>G|||||| 22 43567813 . C T . . ANN=T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.1575+12G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.1575+12G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.1575+12G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.1575+12G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.1575+12G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.1575+12G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.1575+12G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.1575+12G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.1575+12G>A||||||,T|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron||n.-1G>A|||||1533|,T|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.-286G>A|||||57|,T|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.*636G>A|||||2486|,T|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|11/13|c.1575+12G>A|||||| 22 43567816 . A T . . ANN=T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.1575+9T>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.1575+9T>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.1575+9T>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.1575+9T>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.1575+9T>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.1575+9T>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.1575+9T>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.1575+9T>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.1575+9T>A||||||,T|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron||n.-1T>A|||||1536|,T|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.-286T>A|||||60|,T|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.*636T>A|||||2483|,T|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|11/13|c.1575+9T>A|||||| 22 43567861 . C T . . ANN=T|synonymous_variant|LOW|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|11/14|c.1539G>A|p.Thr513Thr|1603/3385|1539/1935|513/644||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.1539G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.1539G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.1539G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.1539G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.1539G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.1539G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.1539G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.1539G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.1539G>A||||||,T|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron||n.-1G>A|||||1581|,T|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.-286G>A|||||105|,T|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.*636G>A|||||2438| 22 43567876 . G A . . ANN=A|synonymous_variant|LOW|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|11/14|c.1524C>T|p.Tyr508Tyr|1588/3385|1524/1935|508/644||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.1524C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.1524C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.1524C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.1524C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.1524C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.1524C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.1524C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.1524C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.1524C>T||||||,A|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron||n.-1C>T|||||1596|,A|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.-286C>T|||||120|,A|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.*636C>T|||||2423| 22 43567936 . G A . . ANN=A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.1494-30C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.1494-30C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.1494-30C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.1494-30C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.1494-30C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.1494-30C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.1494-30C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.1494-30C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.1494-30C>T||||||,A|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron||n.-1C>T|||||1656|,A|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.-286C>T|||||180|,A|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.*636C>T|||||2363|,A|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|10/13|c.1494-30C>T|||||| 22 43567937 . T A . . ANN=A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.1494-31A>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.1494-31A>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.1494-31A>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.1494-31A>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.1494-31A>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.1494-31A>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.1494-31A>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.1494-31A>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.1494-31A>T||||||,A|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron||n.-1A>T|||||1657|,A|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.-286A>T|||||181|,A|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.*636A>T|||||2362|,A|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|10/13|c.1494-31A>T|||||| 22 43567954 . C A . . ANN=A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.1494-48G>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.1494-48G>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.1494-48G>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.1494-48G>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.1494-48G>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.1494-48G>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.1494-48G>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.1494-48G>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.1494-48G>T||||||,A|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron||n.-1G>T|||||1674|,A|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.-286G>T|||||198|,A|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.*636G>T|||||2345|,A|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|10/13|c.1494-48G>T|||||| 22 43568362 . C T . . ANN=T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.1493+47G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.1493+47G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.1493+47G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.1493+47G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.1493+47G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.1493+47G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.1493+47G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.1493+47G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.1493+47G>A||||||,T|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron||n.-1G>A|||||2082|,T|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.-286G>A|||||606|,T|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.*636G>A|||||1937|,T|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|10/13|c.1493+47G>A|||||| 22 43568439 . T C . . ANN=C|missense_variant|MODERATE|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|10/14|c.1463A>G|p.Tyr488Cys|1527/3385|1463/1935|488/644||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.1463A>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.1463A>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.1463A>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.1463A>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.1463A>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.1463A>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.1463A>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.1463A>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.1463A>G||||||,C|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron||n.-1A>G|||||2159|,C|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.-286A>G|||||683|,C|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.*636A>G|||||1860| 22 43568494 . C T . . ANN=T|missense_variant|MODERATE|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|10/14|c.1408G>A|p.Asp470Asn|1472/3385|1408/1935|470/644||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.1408G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.1408G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.1408G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.1408G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.1408G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.1408G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.1408G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.1408G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.1408G>A||||||,T|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron||n.-1G>A|||||2214|,T|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.-286G>A|||||738|,T|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.*636G>A|||||1805| 22 43568495 . G A . . ANN=A|synonymous_variant|LOW|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|10/14|c.1407C>T|p.Phe469Phe|1471/3385|1407/1935|469/644||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.1407C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.1407C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.1407C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.1407C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.1407C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.1407C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.1407C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.1407C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.1407C>T||||||,A|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron||n.-1C>T|||||2215|,A|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.-286C>T|||||739|,A|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.*636C>T|||||1804| 22 43568512 . C T . . ANN=T|missense_variant|MODERATE|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|10/14|c.1390G>A|p.Val464Met|1454/3385|1390/1935|464/644||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.1390G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.1390G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.1390G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.1390G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.1390G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.1390G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.1390G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.1390G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.1390G>A||||||,T|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron||n.-1G>A|||||2232|,T|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.-286G>A|||||756|,T|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.*636G>A|||||1787| 22 43568534 . G A . . ANN=A|synonymous_variant|LOW|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|10/14|c.1368C>T|p.Pro456Pro|1432/3385|1368/1935|456/644||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.1368C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.1368C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.1368C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.1368C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.1368C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.1368C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.1368C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.1368C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.1368C>T||||||,A|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron||n.-1C>T|||||2254|,A|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.-286C>T|||||778|,A|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.*636C>T|||||1765| 22 43568583 . C T . . ANN=T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.1342-23G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.1342-23G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.1342-23G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.1342-23G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.1342-23G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.1342-23G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.1342-23G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.1342-23G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.1342-23G>A||||||,T|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron||n.-1G>A|||||2303|,T|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.-286G>A|||||827|,T|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.*636G>A|||||1716|,T|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|9/13|c.1342-23G>A|||||| 22 43569673 . GT G . . ANN=|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.1341+47delA||||||,|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.1341+47delA||||||,|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.1341+47delA||||||,|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.1341+47delA||||||,|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.1341+47delA||||||,|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.1341+47delA||||||,|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.1341+47delA||||||,|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.1341+47delA||||||,|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.1341+47delA||||||,|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron||n.-1delA|||||3394|,|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.-286delA|||||1918|,|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.*636delA|||||625|,|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|9/13|c.1341+47delA|||||| 22 43569692 . C G . . ANN=G|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.1341+29G>C||||||,G|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.1341+29G>C||||||,G|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.1341+29G>C||||||,G|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.1341+29G>C||||||,G|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.1341+29G>C||||||,G|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.1341+29G>C||||||,G|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.1341+29G>C||||||,G|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.1341+29G>C||||||,G|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.1341+29G>C||||||,G|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron||n.-1G>C|||||3412|,G|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.-286G>C|||||1936|,G|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.*636G>C|||||607|,G|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|9/13|c.1341+29G>C|||||| 22 43569755 . T C . . ANN=C|missense_variant|MODERATE|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|9/14|c.1307A>G|p.His436Arg|1371/3385|1307/1935|436/644||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.1307A>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.1307A>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.1307A>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.1307A>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.1307A>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.1307A>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.1307A>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.1307A>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.1307A>G||||||,C|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron||n.-1A>G|||||3475|,C|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.-286A>G|||||1999|,C|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.*636A>G|||||544| 22 43569836 . G C . . ANN=C|splice_region_variant&intron_variant|LOW|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|8/13|c.1230-4C>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.1230-4C>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.1230-4C>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.1230-4C>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.1230-4C>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.1230-4C>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.1230-4C>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.1230-4C>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.1230-4C>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.1230-4C>G||||||,C|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron||n.-1C>G|||||3556|,C|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.-286C>G|||||2080|,C|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.*636C>G|||||463| 22 43569838 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|8/13|c.1230-6C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.1230-6C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.1230-6C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.1230-6C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.1230-6C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.1230-6C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.1230-6C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.1230-6C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.1230-6C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.1230-6C>T||||||,A|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron||n.-1C>T|||||3558|,A|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.-286C>T|||||2082|,A|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.*636C>T|||||461| 22 43569839 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|8/13|c.1230-7T>C||||||,G|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.1230-7T>C||||||,G|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.1230-7T>C||||||,G|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.1230-7T>C||||||,G|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.1230-7T>C||||||,G|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.1230-7T>C||||||,G|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.1230-7T>C||||||,G|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.1230-7T>C||||||,G|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.1230-7T>C||||||,G|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.1230-7T>C||||||,G|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron||n.-1T>C|||||3559|,G|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.-286T>C|||||2083|,G|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.*636T>C|||||460| 22 43569858 . G C . . ANN=C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.1230-26C>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.1230-26C>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.1230-26C>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.1230-26C>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.1230-26C>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.1230-26C>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.1230-26C>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.1230-26C>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.1230-26C>G||||||,C|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron||n.-1C>G|||||3578|,C|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.-286C>G|||||2102|,C|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.*636C>G|||||441|,C|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|8/13|c.1230-26C>G|||||| 22 43569861 . C T . . ANN=T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.1230-29G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.1230-29G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.1230-29G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.1230-29G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.1230-29G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.1230-29G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.1230-29G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.1230-29G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.1230-29G>A||||||,T|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron||n.-1G>A|||||3581|,T|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.-286G>A|||||2105|,T|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.*636G>A|||||438|,T|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|8/13|c.1230-29G>A|||||| 22 43570223 . C T . . ANN=T|synonymous_variant|LOW|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|8/14|c.1221G>A|p.Arg407Arg|1285/3385|1221/1935|407/644||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.1221G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.1221G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.1221G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.1221G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.1221G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.1221G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.1221G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.1221G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.1221G>A||||||,T|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron||n.-1G>A|||||3943|,T|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.-286G>A|||||2467|,T|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.*636G>A|||||76| 22 43570301 . G A . . ANN=A|splice_region_variant&non_coding_exon_variant|LOW|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript|3/3|n.634C>T||||||,A|synonymous_variant|LOW|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|8/14|c.1143C>T|p.Pro381Pro|1207/3385|1143/1935|381/644||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.1143C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.1143C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.1143C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.1143C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.1143C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.1143C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.1143C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.1143C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.1143C>T||||||,A|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron||n.-1C>T|||||4021|,A|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.-286C>T|||||2545| 22 43570322 . G A . . ANN=A|synonymous_variant|LOW|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|8/14|c.1122C>T|p.Ile374Ile|1186/3385|1122/1935|374/644||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.1122C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.1122C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.1122C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.1122C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.1122C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.1122C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.1122C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.1122C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.1122C>T||||||,A|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron||n.-1C>T|||||4042|,A|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.-286C>T|||||2566|,A|non_coding_exon_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript|3/3|n.613C>T|||||| 22 43570441 . G A . . ANN=A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.1035-32C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.1035-32C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.1035-32C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.1035-32C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.1035-32C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.1035-32C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.1035-32C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.1035-32C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.1035-32C>T||||||,A|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron||n.-1C>T|||||4161|,A|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.-286C>T|||||2685|,A|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|7/13|c.1035-32C>T||||||,A|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript|2/2|n.526-32C>T|||||| 22 43570454 . G A . . ANN=A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.1035-45C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.1035-45C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.1035-45C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.1035-45C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.1035-45C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.1035-45C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.1035-45C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.1035-45C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.1035-45C>T||||||,A|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron||n.-1C>T|||||4174|,A|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.-286C>T|||||2698|,A|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|7/13|c.1035-45C>T||||||,A|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript|2/2|n.526-45C>T|||||| 22 43570463 . A G . . ANN=G|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.1034+42T>C||||||,G|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.1034+42T>C||||||,G|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.1034+42T>C||||||,G|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.1034+42T>C||||||,G|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.1034+42T>C||||||,G|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.1034+42T>C||||||,G|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.1034+42T>C||||||,G|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.1034+42T>C||||||,G|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.1034+42T>C||||||,G|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron||n.-1T>C|||||4183|,G|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.-286T>C|||||2707|,G|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|7/13|c.1034+42T>C||||||,G|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript|2/2|n.525+42T>C|||||| 22 43570487 . G C . . ANN=C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.1034+18C>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.1034+18C>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.1034+18C>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.1034+18C>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.1034+18C>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.1034+18C>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.1034+18C>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.1034+18C>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.1034+18C>G||||||,C|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron||n.-1C>G|||||4207|,C|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.-286C>G|||||2731|,C|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|7/13|c.1034+18C>G||||||,C|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript|2/2|n.525+18C>G|||||| 22 43570498 . C A . . ANN=A|splice_region_variant&intron_variant|LOW|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|7/13|c.1034+7G>T||||||,A|splice_region_variant&intron_variant|LOW|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript|2/2|n.525+7G>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.1034+7G>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.1034+7G>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.1034+7G>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.1034+7G>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.1034+7G>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.1034+7G>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.1034+7G>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.1034+7G>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.1034+7G>T||||||,A|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron||n.-1G>T|||||4218|,A|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.-286G>T|||||2742| 22 43570531 . G A . . ANN=A|synonymous_variant|LOW|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|7/14|c.1008C>T|p.Phe336Phe|1072/3385|1008/1935|336/644||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.1008C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.1008C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.1008C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.1008C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.1008C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.1008C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.1008C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.1008C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.1008C>T||||||,A|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron||n.-1C>T|||||4251|,A|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.-286C>T|||||2775|,A|non_coding_exon_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript|2/3|n.499C>T|||||| 22 43570546 . G A . . ANN=A|synonymous_variant|LOW|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|7/14|c.993C>T|p.Asp331Asp|1057/3385|993/1935|331/644||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.993C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.993C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.993C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.993C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.993C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.993C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.993C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.993C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.993C>T||||||,A|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron||n.-1C>T|||||4266|,A|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.-286C>T|||||2790|,A|non_coding_exon_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript|2/3|n.484C>T|||||| 22 43570550 . G A . . ANN=A|missense_variant|MODERATE|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|7/14|c.989C>T|p.Ala330Val|1053/3385|989/1935|330/644||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.989C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.989C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.989C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.989C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.989C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.989C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.989C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.989C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.989C>T||||||,A|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron||n.-1C>T|||||4270|,A|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.-286C>T|||||2794|,A|non_coding_exon_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript|2/3|n.480C>T|||||| 22 43570583 . G A . . ANN=A|missense_variant|MODERATE|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|7/14|c.956C>T|p.Thr319Ile|1020/3385|956/1935|319/644||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.956C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.956C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.956C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.956C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.956C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.956C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.956C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.956C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.956C>T||||||,A|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron||n.-1C>T|||||4303|,A|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.-286C>T|||||2827|,A|non_coding_exon_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript|2/3|n.447C>T|||||| 22 43570602 . G C . . ANN=C|missense_variant|MODERATE|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|7/14|c.937C>G|p.Gln313Glu|1001/3385|937/1935|313/644||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.937C>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.937C>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.937C>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.937C>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.937C>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.937C>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.937C>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.937C>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.937C>G||||||,C|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron||n.-1C>G|||||4322|,C|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.-286C>G|||||2846|,C|non_coding_exon_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript|2/3|n.428C>G|||||| 22 43570659 . A C . . ANN=C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.918-38T>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.918-38T>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.918-38T>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.918-38T>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.918-38T>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.918-38T>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.918-38T>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.918-38T>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.918-38T>G||||||,C|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron||n.-1T>G|||||4379|,C|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.-286T>G|||||2903|,C|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|6/13|c.918-38T>G||||||,C|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript|1/2|n.409-38T>G|||||| 22 43570670 . C T . . ANN=T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.918-49G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.918-49G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.918-49G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.918-49G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.918-49G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.918-49G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.918-49G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.918-49G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.918-49G>A||||||,T|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron||n.-1G>A|||||4390|,T|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.-286G>A|||||2914|,T|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|6/13|c.918-49G>A||||||,T|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript|1/2|n.409-49G>A|||||| 22 43570671 . G A . . ANN=A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.918-50C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.918-50C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.918-50C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.918-50C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.918-50C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.918-50C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.918-50C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.918-50C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.918-50C>T||||||,A|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron||n.-1C>T|||||4391|,A|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.-286C>T|||||2915|,A|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|6/13|c.918-50C>T||||||,A|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript|1/2|n.409-50C>T|||||| 22 43572308 . TG T,TGG . . ANN=|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.917+17delC||||||,|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.917+17delC||||||,|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.917+17delC||||||,|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.917+17delC||||||,|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.917+17delC||||||,|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.917+17delC||||||,|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.917+17delC||||||,|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.917+17delC||||||,|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.917+17delC||||||,G|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.917+16dupC||||||,G|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.917+16dupC||||||,G|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.917+16dupC||||||,G|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.917+16dupC||||||,G|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.917+16dupC||||||,G|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.917+16dupC||||||,G|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.917+16dupC||||||,G|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.917+16dupC||||||,G|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.917+16dupC||||||,|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.-286delC|||||4553|,G|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.-286dupC|||||4554|,|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.-1delC|||||625|,G|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.-1dupC|||||626|,|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|6/13|c.917+17delC||||||,G|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|6/13|c.917+16dupC|||||| 22 43572311 . G A,T . . ANN=A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.917+15C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.917+15C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.917+15C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.917+15C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.917+15C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.917+15C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.917+15C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.917+15C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.917+15C>T||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.917+15C>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.917+15C>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.917+15C>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.917+15C>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.917+15C>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.917+15C>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.917+15C>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.917+15C>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.917+15C>A||||||,A|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.-286C>T|||||4555|,T|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.-286C>A|||||4555|,A|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.-1C>T|||||627|,T|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.-1C>A|||||627|,A|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|6/13|c.917+15C>T||||||,T|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|6/13|c.917+15C>A|||||| 22 43572322 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|6/13|c.917+4C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.917+4C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.917+4C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.917+4C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.917+4C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.917+4C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.917+4C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.917+4C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.917+4C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.917+4C>T||||||,A|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.-286C>T|||||4566|,A|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.-1C>T|||||638| 22 43572349 . C A . . ANN=A|synonymous_variant|LOW|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|6/14|c.894G>T|p.Val298Val|958/3385|894/1935|298/644||,A|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.-286G>T|||||4593|,A|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.-1G>T|||||665| 22 43572354 . C T . . ANN=T|missense_variant|MODERATE|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|6/14|c.889G>A|p.Val297Met|953/3385|889/1935|297/644||,T|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.-286G>A|||||4598|,T|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.-1G>A|||||670| 22 43572416 . C T . . ANN=T|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.-286G>A|||||4660|,T|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.-1G>A|||||732|,T|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|5/13|c.841-14G>A|||||| 22 43572420 . G A . . ANN=A|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.-286C>T|||||4664|,A|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.-1C>T|||||736|,A|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|5/13|c.841-18C>T|||||| 22 43575616 . G A . . ANN=A|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.-1C>T|||||3932|,A|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|5/13|c.840+9C>T|||||| 22 43575682 . G A . . ANN=A|synonymous_variant|LOW|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|5/14|c.783C>T|p.Pro261Pro|847/3385|783/1935|261/644||,A|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.-1C>T|||||3998| 22 43575775 . G A . . ANN=A|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.-1C>T|||||4091|,A|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|4/13|c.707-17C>T|||||| 22 43575795 . C T . . ANN=T|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.-1G>A|||||4111|,T|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|4/13|c.707-37G>A|||||| 22 43575828 . G A . . ANN=A|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.-1C>T|||||4144|,A|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|4/13|c.706+19C>T|||||| 22 43575849 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|4/14|c.704G>A|p.Gly235Asp|768/3385|704/1935|235/644||,T|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.-1G>A|||||4165| 22 43575914 . G C . . ANN=C|synonymous_variant|LOW|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|4/14|c.639C>G|p.Pro213Pro|703/3385|639/1935|213/644||,C|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.-1C>G|||||4230| 22 43575935 . C T . . ANN=T|synonymous_variant|LOW|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|4/14|c.618G>A|p.Val206Val|682/3385|618/1935|206/644||,T|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.-1G>A|||||4251| 22 43575939 . TC T . . ANN=|frameshift_variant|HIGH|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|4/14|c.613delG|p.Asp205fs|677/3385|613/1935|205/644||,|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.-1delG|||||4256|;LOF=(TTLL12|ENSG00000100304|4|0.25) 22 43575941 . C T . . ANN=T|synonymous_variant|LOW|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|4/14|c.612G>A|p.Ala204Ala|676/3385|612/1935|204/644||,T|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.-1G>A|||||4257| 22 43575956 . C T . . ANN=T|synonymous_variant|LOW|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|4/14|c.597G>A|p.Ser199Ser|661/3385|597/1935|199/644||,T|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.-1G>A|||||4272| 22 43576006 . T C . . ANN=C|missense_variant&splice_region_variant|MODERATE|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|4/14|c.547A>G|p.Thr183Ala|611/3385|547/1935|183/644||,C|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.-1A>G|||||4322| 22 43576035 . C T . . ANN=T|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.-1G>A|||||4351|,T|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|3/13|c.547-29G>A|||||| 22 43576049 . C A . . ANN=A|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.-1G>T|||||4365|,A|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|3/13|c.547-43G>T|||||| 22 43576054 . C T . . ANN=T|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.-1G>A|||||4370|,T|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|3/13|c.547-48G>A|||||| 22 43576721 . C G . . ANN=G|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|3/13|c.546+27G>C|||||| 22 43576727 . G A . . ANN=A|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|3/13|c.546+21C>T|||||| 22 43576831 . C G . . ANN=G|missense_variant|MODERATE|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|3/14|c.463G>C|p.Gly155Arg|527/3385|463/1935|155/644|| 22 43576832 . G A . . ANN=A|synonymous_variant|LOW|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|3/14|c.462C>T|p.His154His|526/3385|462/1935|154/644|| 22 43576880 . C A . . ANN=A|synonymous_variant|LOW|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|3/14|c.414G>T|p.Val138Val|478/3385|414/1935|138/644|| 22 43576904 . G A . . ANN=A|synonymous_variant|LOW|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|3/14|c.390C>T|p.His130His|454/3385|390/1935|130/644|| 22 43576977 . C T . . ANN=T|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|2/13|c.348-31G>A|||||| 22 43579006 . G A . . ANN=A|synonymous_variant|LOW|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|2/14|c.327C>T|p.Leu109Leu|391/3385|327/1935|109/644|| 22 43579008 . G C . . ANN=C|missense_variant|MODERATE|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|2/14|c.325C>G|p.Leu109Val|389/3385|325/1935|109/644|| 22 43579012 . G A . . ANN=A|synonymous_variant|LOW|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|2/14|c.321C>T|p.Ser107Ser|385/3385|321/1935|107/644|| 22 43579049 . T C . . ANN=C|missense_variant|MODERATE|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|2/14|c.284A>G|p.Asn95Ser|348/3385|284/1935|95/644|| 22 43579055 . G A . . ANN=A|missense_variant|MODERATE|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|2/14|c.278C>T|p.Pro93Leu|342/3385|278/1935|93/644|| 22 43579081 . C T . . ANN=T|synonymous_variant|LOW|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|2/14|c.252G>A|p.Arg84Arg|316/3385|252/1935|84/644|| 22 43579083 . G A . . ANN=A|missense_variant|MODERATE|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|2/14|c.250C>T|p.Arg84Trp|314/3385|250/1935|84/644|| 22 43579150 . G A . . ANN=A|synonymous_variant|LOW|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|2/14|c.183C>T|p.Phe61Phe|247/3385|183/1935|61/644|| 22 43579181 . G C . . ANN=C|intron_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|1/13|c.178-26C>G|||||| 22 43583051 . G A . . ANN=A|missense_variant|MODERATE|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|1/14|c.25C>T|p.Arg9Cys|89/3385|25/1935|9/644|| 22 43599958 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|22/22|c.*45G>A|||||45| 22 43599965 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|22/22|c.*38G>A|||||38| 22 43599991 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|22/22|c.*12G>A|||||12| 22 43600000 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|22/22|c.*3G>A|||||3| 22 43600126 . G A . . ANN=A|synonymous_variant|LOW|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|22/22|c.2844C>T|p.Asp948Asp|2971/9808|2844/2967|948/988|| 22 43603510 . C T . . ANN=T|intron_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|21/21|c.2814+30G>A|||||| 22 43603585 . G A . . ANN=A|synonymous_variant|LOW|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|21/22|c.2769C>T|p.Arg923Arg|2896/9808|2769/2967|923/988|| 22 43603665 . G A . . ANN=A|intron_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|20/21|c.2735-46C>T|||||| 22 43604034 . C T . . ANN=T|upstream_gene_variant|MODIFIER|Z82214.3|ENSG00000236272|transcript|ENST00000420269|antisense||n.-1C>T|||||4646|,T|intron_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|20/21|c.2734+44G>A|||||| 22 43604152 . T C . . ANN=C|missense_variant|MODERATE|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|20/22|c.2660A>G|p.Lys887Arg|2787/9808|2660/2967|887/988||,C|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:CUB|ENST00000360835|protein_coding|19/22|c.2660A>G||||||,C|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:CUB|ENST00000360835|protein_coding|20/22|c.2660A>G||||||,C|upstream_gene_variant|MODIFIER|Z82214.3|ENSG00000236272|transcript|ENST00000420269|antisense||n.-1T>C|||||4528| 22 43604235 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|19/21|c.2582-5C>T||||||,A|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:CUB|ENST00000360835|protein_coding|19/22|c.2582-5C>T||||||,A|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:CUB|ENST00000360835|protein_coding|20/22|c.2582-5C>T||||||,A|sequence_feature|LOW|SCUBE1|ENSG00000159307|disulfide_bond|ENST00000360835|protein_coding|19/22|c.2582-5C>T||||||,A|sequence_feature|LOW|SCUBE1|ENSG00000159307|disulfide_bond|ENST00000360835|protein_coding|20/22|c.2582-5C>T||||||,A|upstream_gene_variant|MODIFIER|Z82214.3|ENSG00000236272|transcript|ENST00000420269|antisense||n.-1G>A|||||4445| 22 43606024 . C G . . ANN=G|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:CUB|ENST00000360835|protein_coding|19/22|c.2581+25G>C||||||,G|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:CUB|ENST00000360835|protein_coding|20/22|c.2581+25G>C||||||,G|sequence_feature|LOW|SCUBE1|ENSG00000159307|disulfide_bond|ENST00000360835|protein_coding|19/22|c.2581+25G>C||||||,G|sequence_feature|LOW|SCUBE1|ENSG00000159307|disulfide_bond|ENST00000360835|protein_coding|20/22|c.2581+25G>C||||||,G|upstream_gene_variant|MODIFIER|Z82214.3|ENSG00000236272|transcript|ENST00000420269|antisense||n.-1C>G|||||2656|,G|intron_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|19/21|c.2581+25G>C|||||| 22 43606040 . C T . . ANN=T|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:CUB|ENST00000360835|protein_coding|19/22|c.2581+9G>A||||||,T|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:CUB|ENST00000360835|protein_coding|20/22|c.2581+9G>A||||||,T|sequence_feature|LOW|SCUBE1|ENSG00000159307|disulfide_bond|ENST00000360835|protein_coding|19/22|c.2581+9G>A||||||,T|sequence_feature|LOW|SCUBE1|ENSG00000159307|disulfide_bond|ENST00000360835|protein_coding|20/22|c.2581+9G>A||||||,T|upstream_gene_variant|MODIFIER|Z82214.3|ENSG00000236272|transcript|ENST00000420269|antisense||n.-1C>T|||||2640|,T|intron_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|19/21|c.2581+9G>A|||||| 22 43606057 . C T . . ANN=T|missense_variant|MODERATE|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|19/22|c.2573G>A|p.Arg858Lys|2700/9808|2573/2967|858/988||,T|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:CUB|ENST00000360835|protein_coding|19/22|c.2573G>A||||||,T|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:CUB|ENST00000360835|protein_coding|20/22|c.2573G>A||||||,T|sequence_feature|LOW|SCUBE1|ENSG00000159307|disulfide_bond|ENST00000360835|protein_coding|19/22|c.2573G>A||||||,T|sequence_feature|LOW|SCUBE1|ENSG00000159307|disulfide_bond|ENST00000360835|protein_coding|20/22|c.2573G>A||||||,T|upstream_gene_variant|MODIFIER|Z82214.3|ENSG00000236272|transcript|ENST00000420269|antisense||n.-1C>T|||||2623| 22 43606088 . C T . . ANN=T|missense_variant|MODERATE|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|19/22|c.2542G>A|p.Glu848Lys|2669/9808|2542/2967|848/988||,T|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:CUB|ENST00000360835|protein_coding|19/22|c.2542G>A||||||,T|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:CUB|ENST00000360835|protein_coding|20/22|c.2542G>A||||||,T|upstream_gene_variant|MODIFIER|Z82214.3|ENSG00000236272|transcript|ENST00000420269|antisense||n.-1C>T|||||2592| 22 43606143 . C T . . ANN=T|synonymous_variant|LOW|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|19/22|c.2487G>A|p.Ala829Ala|2614/9808|2487/2967|829/988||,T|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:CUB|ENST00000360835|protein_coding|19/22|c.2487G>A||||||,T|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:CUB|ENST00000360835|protein_coding|20/22|c.2487G>A||||||,T|upstream_gene_variant|MODIFIER|Z82214.3|ENSG00000236272|transcript|ENST00000420269|antisense||n.-1C>T|||||2537| 22 43606158 . G A . . ANN=A|synonymous_variant|LOW|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|19/22|c.2472C>T|p.Cys824Cys|2599/9808|2472/2967|824/988||,A|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:CUB|ENST00000360835|protein_coding|19/22|c.2472C>T||||||,A|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:CUB|ENST00000360835|protein_coding|20/22|c.2472C>T||||||,A|sequence_feature|LOW|SCUBE1|ENSG00000159307|disulfide_bond|ENST00000360835|protein_coding|19/22|c.2472C>T||||||,A|upstream_gene_variant|MODIFIER|Z82214.3|ENSG00000236272|transcript|ENST00000420269|antisense||n.-1G>A|||||2522| 22 43606181 . C T . . ANN=T|missense_variant|MODERATE|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|19/22|c.2449G>A|p.Asp817Asn|2576/9808|2449/2967|817/988||,T|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:CUB|ENST00000360835|protein_coding|19/22|c.2449G>A||||||,T|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:CUB|ENST00000360835|protein_coding|20/22|c.2449G>A||||||,T|sequence_feature|LOW|SCUBE1|ENSG00000159307|disulfide_bond|ENST00000360835|protein_coding|19/22|c.2449G>A||||||,T|upstream_gene_variant|MODIFIER|Z82214.3|ENSG00000236272|transcript|ENST00000420269|antisense||n.-1C>T|||||2499| 22 43606203 . G A . . ANN=A|synonymous_variant|LOW|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|19/22|c.2427C>T|p.Ile809Ile|2554/9808|2427/2967|809/988||,A|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:CUB|ENST00000360835|protein_coding|19/22|c.2427C>T||||||,A|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:CUB|ENST00000360835|protein_coding|20/22|c.2427C>T||||||,A|sequence_feature|LOW|SCUBE1|ENSG00000159307|disulfide_bond|ENST00000360835|protein_coding|19/22|c.2427C>T||||||,A|upstream_gene_variant|MODIFIER|Z82214.3|ENSG00000236272|transcript|ENST00000420269|antisense||n.-1G>A|||||2477| 22 43606212 . G A . . ANN=A|synonymous_variant|LOW|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|19/22|c.2418C>T|p.Thr806Thr|2545/9808|2418/2967|806/988||,A|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:CUB|ENST00000360835|protein_coding|19/22|c.2418C>T||||||,A|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:CUB|ENST00000360835|protein_coding|20/22|c.2418C>T||||||,A|sequence_feature|LOW|SCUBE1|ENSG00000159307|disulfide_bond|ENST00000360835|protein_coding|19/22|c.2418C>T||||||,A|upstream_gene_variant|MODIFIER|Z82214.3|ENSG00000236272|transcript|ENST00000420269|antisense||n.-1G>A|||||2468| 22 43606215 . G A . . ANN=A|synonymous_variant|LOW|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|19/22|c.2415C>T|p.Tyr805Tyr|2542/9808|2415/2967|805/988||,A|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:CUB|ENST00000360835|protein_coding|19/22|c.2415C>T||||||,A|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:CUB|ENST00000360835|protein_coding|20/22|c.2415C>T||||||,A|sequence_feature|LOW|SCUBE1|ENSG00000159307|disulfide_bond|ENST00000360835|protein_coding|19/22|c.2415C>T||||||,A|upstream_gene_variant|MODIFIER|Z82214.3|ENSG00000236272|transcript|ENST00000420269|antisense||n.-1G>A|||||2465| 22 43606236 . G A . . ANN=A|synonymous_variant|LOW|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|19/22|c.2394C>T|p.Cys798Cys|2521/9808|2394/2967|798/988||,A|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:CUB|ENST00000360835|protein_coding|19/22|c.2394C>T||||||,A|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:CUB|ENST00000360835|protein_coding|20/22|c.2394C>T||||||,A|sequence_feature|LOW|SCUBE1|ENSG00000159307|disulfide_bond|ENST00000360835|protein_coding|19/22|c.2394C>T||||||,A|upstream_gene_variant|MODIFIER|Z82214.3|ENSG00000236272|transcript|ENST00000420269|antisense||n.-1G>A|||||2444| 22 43606944 . G A . . ANN=A|sequence_feature|MODERATE|SCUBE1|ENSG00000159307|glycosylation_site:N-linked__GlcNAc..._|ENST00000360835|protein_coding|18/22|c.2367C>T||||||,A|synonymous_variant|LOW|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|18/22|c.2367C>T|p.Asn789Asn|2494/9808|2367/2967|789/988||,A|upstream_gene_variant|MODIFIER|Z82214.3|ENSG00000236272|transcript|ENST00000420269|antisense||n.-1G>A|||||1736| 22 43606987 . G A . . ANN=A|missense_variant|MODERATE|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|18/22|c.2324C>T|p.Thr775Ile|2451/9808|2324/2967|775/988||,A|upstream_gene_variant|MODIFIER|Z82214.3|ENSG00000236272|transcript|ENST00000420269|antisense||n.-1G>A|||||1693| 22 43607031 . G A . . ANN=A|synonymous_variant|LOW|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|18/22|c.2280C>T|p.Pro760Pro|2407/9808|2280/2967|760/988||,A|upstream_gene_variant|MODIFIER|Z82214.3|ENSG00000236272|transcript|ENST00000420269|antisense||n.-1G>A|||||1649| 22 43607040 . G A . . ANN=A|synonymous_variant|LOW|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|18/22|c.2271C>T|p.Ile757Ile|2398/9808|2271/2967|757/988||,A|upstream_gene_variant|MODIFIER|Z82214.3|ENSG00000236272|transcript|ENST00000420269|antisense||n.-1G>A|||||1640| 22 43608531 . C T . . ANN=T|synonymous_variant|LOW|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|17/22|c.2121G>A|p.Thr707Thr|2248/9808|2121/2967|707/988||,T|upstream_gene_variant|MODIFIER|Z82214.3|ENSG00000236272|transcript|ENST00000420269|antisense||n.-1C>T|||||149| 22 43608626 . G A . . ANN=A|upstream_gene_variant|MODIFIER|Z82214.3|ENSG00000236272|transcript|ENST00000420269|antisense||n.-1G>A|||||54|,A|intron_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|16/21|c.2054-28C>T|||||| 22 43610059 . C G . . ANN=G|downstream_gene_variant|MODIFIER|Z82214.3|ENSG00000236272|transcript|ENST00000420269|antisense||n.*531C>G|||||392|,G|intron_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|16/21|c.2053+37G>C|||||| 22 43610090 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|16/21|c.2053+6T>C||||||,G|downstream_gene_variant|MODIFIER|Z82214.3|ENSG00000236272|transcript|ENST00000420269|antisense||n.*531A>G|||||423| 22 43610106 . C T . . ANN=T|synonymous_variant|LOW|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|16/22|c.2043G>A|p.Ser681Ser|2170/9808|2043/2967|681/988||,T|downstream_gene_variant|MODIFIER|Z82214.3|ENSG00000236272|transcript|ENST00000420269|antisense||n.*531C>T|||||439| 22 43610112 . G A . . ANN=A|sequence_feature|MODERATE|SCUBE1|ENSG00000159307|glycosylation_site:N-linked__GlcNAc..._|ENST00000360835|protein_coding|16/22|c.2037C>T||||||,A|synonymous_variant|LOW|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|16/22|c.2037C>T|p.Asn679Asn|2164/9808|2037/2967|679/988||,A|downstream_gene_variant|MODIFIER|Z82214.3|ENSG00000236272|transcript|ENST00000420269|antisense||n.*531G>A|||||445| 22 43610138 . C T . . ANN=T|missense_variant|MODERATE|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|16/22|c.2011G>A|p.Gly671Arg|2138/9808|2011/2967|671/988||,T|downstream_gene_variant|MODIFIER|Z82214.3|ENSG00000236272|transcript|ENST00000420269|antisense||n.*531C>T|||||471| 22 43610141 . C T . . ANN=T|missense_variant|MODERATE|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|16/22|c.2008G>A|p.Asp670Asn|2135/9808|2008/2967|670/988||,T|downstream_gene_variant|MODIFIER|Z82214.3|ENSG00000236272|transcript|ENST00000420269|antisense||n.*531C>T|||||474| 22 43610201 . T C . . ANN=C|missense_variant|MODERATE|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|16/22|c.1948A>G|p.Met650Val|2075/9808|1948/2967|650/988||,C|downstream_gene_variant|MODIFIER|Z82214.3|ENSG00000236272|transcript|ENST00000420269|antisense||n.*531T>C|||||534| 22 43610207 . A G . . ANN=G|missense_variant|MODERATE|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|16/22|c.1942T>C|p.Ser648Pro|2069/9808|1942/2967|648/988||,G|downstream_gene_variant|MODIFIER|Z82214.3|ENSG00000236272|transcript|ENST00000420269|antisense||n.*531A>G|||||540| 22 43614223 . C G . . ANN=G|downstream_gene_variant|MODIFIER|Z82214.3|ENSG00000236272|transcript|ENST00000420269|antisense||n.*531C>G|||||4556|,G|intron_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|15/21|c.1891+38G>C|||||| 22 43614292 . G A . . ANN=A|synonymous_variant|LOW|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|15/22|c.1860C>T|p.Gly620Gly|1987/9808|1860/2967|620/988||,A|downstream_gene_variant|MODIFIER|Z82214.3|ENSG00000236272|transcript|ENST00000420269|antisense||n.*531G>A|||||4625| 22 43614316 . C G . . ANN=G|synonymous_variant|LOW|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|15/22|c.1836G>C|p.Ala612Ala|1963/9808|1836/2967|612/988||,G|downstream_gene_variant|MODIFIER|Z82214.3|ENSG00000236272|transcript|ENST00000420269|antisense||n.*531C>G|||||4649| 22 43614364 . G T . . ANN=T|synonymous_variant|LOW|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|15/22|c.1788C>A|p.Val596Val|1915/9808|1788/2967|596/988||,T|downstream_gene_variant|MODIFIER|Z82214.3|ENSG00000236272|transcript|ENST00000420269|antisense||n.*531G>T|||||4697| 22 43614489 . A G . . ANN=G|downstream_gene_variant|MODIFIER|Z82214.3|ENSG00000236272|transcript|ENST00000420269|antisense||n.*531A>G|||||4822|,G|intron_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|14/21|c.1688-25T>C|||||| 22 43616481 . G A . . ANN=A|synonymous_variant|LOW|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|14/22|c.1662C>T|p.Ile554Ile|1789/9808|1662/2967|554/988|| 22 43616565 . G C . . ANN=C|synonymous_variant|LOW|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|14/22|c.1578C>G|p.Leu526Leu|1705/9808|1578/2967|526/988|| 22 43616580 . C T . . ANN=T|synonymous_variant|LOW|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|14/22|c.1563G>A|p.Val521Val|1690/9808|1563/2967|521/988|| 22 43616627 . G A . . ANN=A|intron_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|13/21|c.1550-34C>T|||||| 22 43616628 . C T . . ANN=T|intron_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|13/21|c.1550-35G>A|||||| 22 43617144 . G A . . ANN=A|intron_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|13/21|c.1549+35C>T|||||| 22 43617168 . G A . . ANN=A|intron_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|13/21|c.1549+11C>T|||||| 22 43618619 . A G . . ANN=G|intron_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|12/21|c.1432+25T>C|||||| 22 43618632 . CG C . . ANN=|intron_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|12/21|c.1432+11delC|||||| 22 43618637 . G GGGTT . . ANN=GGTT|splice_region_variant&intron_variant|LOW|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|12/21|c.1432+3_1432+6dupAACC|||||| 22 43618695 . C A . . ANN=A|missense_variant|MODERATE|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|12/22|c.1381G>T|p.Ala461Ser|1508/9808|1381/2967|461/988|| 22 43618708 . C A . . ANN=A|synonymous_variant|LOW|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|12/22|c.1368G>T|p.Gly456Gly|1495/9808|1368/2967|456/988|| 22 43619062 . C G . . ANN=G|intron_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|11/21|c.1327+41G>C|||||| 22 43619072 . A C . . ANN=C|intron_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|11/21|c.1327+31T>G|||||| 22 43619096 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|11/21|c.1327+7C>T|||||| 22 43619125 . C G . . ANN=G|synonymous_variant|LOW|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|11/22|c.1305G>C|p.Pro435Pro|1432/9808|1305/2967|435/988|| 22 43619170 . G A . . ANN=A|synonymous_variant|LOW|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|11/22|c.1260C>T|p.Ser420Ser|1387/9808|1260/2967|420/988|| 22 43619183 . C T . . ANN=T|missense_variant|MODERATE|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|11/22|c.1247G>A|p.Arg416Gln|1374/9808|1247/2967|416/988|| 22 43619200 . G A . . ANN=A|synonymous_variant|LOW|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|11/22|c.1230C>T|p.Arg410Arg|1357/9808|1230/2967|410/988|| 22 43623353 . G A . . ANN=A|upstream_gene_variant|MODIFIER|Z82214.2|ENSG00000234892|transcript|ENST00000419643|antisense||n.-1G>A|||||4794|,A|downstream_gene_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000449304|protein_coding||c.*524C>T|||||4409|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|10/21|c.1207+27C>T|||||| 22 43623383 . C T . . ANN=T|missense_variant|MODERATE|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|10/22|c.1204G>A|p.Val402Met|1331/9808|1204/2967|402/988||,T|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_9|ENST00000360835|protein_coding|10/22|c.1204G>A||||||,T|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_9|ENST00000360835|protein_coding|9/22|c.1204G>A||||||,T|upstream_gene_variant|MODIFIER|Z82214.2|ENSG00000234892|transcript|ENST00000419643|antisense||n.-1C>T|||||4764|,T|downstream_gene_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000449304|protein_coding||c.*524G>A|||||4379|WARNING_TRANSCRIPT_INCOMPLETE 22 43623386 . A G . . ANN=G|missense_variant|MODERATE|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|10/22|c.1201T>C|p.Cys401Arg|1328/9808|1201/2967|401/988||,G|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_9|ENST00000360835|protein_coding|10/22|c.1201T>C||||||,G|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_9|ENST00000360835|protein_coding|9/22|c.1201T>C||||||,G|sequence_feature|LOW|SCUBE1|ENSG00000159307|disulfide_bond|ENST00000360835|protein_coding|10/22|c.1201T>C||||||,G|upstream_gene_variant|MODIFIER|Z82214.2|ENSG00000234892|transcript|ENST00000419643|antisense||n.-1A>G|||||4761|,G|downstream_gene_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000449304|protein_coding||c.*524T>C|||||4376|WARNING_TRANSCRIPT_INCOMPLETE 22 43623395 . C G . . ANN=G|missense_variant|MODERATE|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|10/22|c.1192G>C|p.Gly398Arg|1319/9808|1192/2967|398/988||,G|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_9|ENST00000360835|protein_coding|10/22|c.1192G>C||||||,G|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_9|ENST00000360835|protein_coding|9/22|c.1192G>C||||||,G|sequence_feature|LOW|SCUBE1|ENSG00000159307|disulfide_bond|ENST00000360835|protein_coding|10/22|c.1192G>C||||||,G|upstream_gene_variant|MODIFIER|Z82214.2|ENSG00000234892|transcript|ENST00000419643|antisense||n.-1C>G|||||4752|,G|downstream_gene_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000449304|protein_coding||c.*524G>C|||||4367|WARNING_TRANSCRIPT_INCOMPLETE 22 43623417 . C T . . ANN=T|synonymous_variant|LOW|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|10/22|c.1170G>A|p.Pro390Pro|1297/9808|1170/2967|390/988||,T|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_9|ENST00000360835|protein_coding|10/22|c.1170G>A||||||,T|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_9|ENST00000360835|protein_coding|9/22|c.1170G>A||||||,T|sequence_feature|LOW|SCUBE1|ENSG00000159307|disulfide_bond|ENST00000360835|protein_coding|10/22|c.1170G>A||||||,T|upstream_gene_variant|MODIFIER|Z82214.2|ENSG00000234892|transcript|ENST00000419643|antisense||n.-1C>T|||||4730|,T|downstream_gene_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000449304|protein_coding||c.*524G>A|||||4345|WARNING_TRANSCRIPT_INCOMPLETE 22 43623418 . G C . . ANN=C|missense_variant|MODERATE|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|10/22|c.1169C>G|p.Pro390Arg|1296/9808|1169/2967|390/988||,C|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_9|ENST00000360835|protein_coding|10/22|c.1169C>G||||||,C|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_9|ENST00000360835|protein_coding|9/22|c.1169C>G||||||,C|sequence_feature|LOW|SCUBE1|ENSG00000159307|disulfide_bond|ENST00000360835|protein_coding|10/22|c.1169C>G||||||,C|upstream_gene_variant|MODIFIER|Z82214.2|ENSG00000234892|transcript|ENST00000419643|antisense||n.-1G>C|||||4729|,C|downstream_gene_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000449304|protein_coding||c.*524C>G|||||4344|WARNING_TRANSCRIPT_INCOMPLETE 22 43623429 . G A . . ANN=A|synonymous_variant|LOW|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|10/22|c.1158C>T|p.Cys386Cys|1285/9808|1158/2967|386/988||,A|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_9|ENST00000360835|protein_coding|10/22|c.1158C>T||||||,A|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_9|ENST00000360835|protein_coding|9/22|c.1158C>T||||||,A|sequence_feature|LOW|SCUBE1|ENSG00000159307|disulfide_bond|ENST00000360835|protein_coding|10/22|c.1158C>T||||||,A|upstream_gene_variant|MODIFIER|Z82214.2|ENSG00000234892|transcript|ENST00000419643|antisense||n.-1G>A|||||4718|,A|downstream_gene_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000449304|protein_coding||c.*524C>T|||||4333|WARNING_TRANSCRIPT_INCOMPLETE 22 43623430 . C T . . ANN=T|missense_variant|MODERATE|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|10/22|c.1157G>A|p.Cys386Tyr|1284/9808|1157/2967|386/988||,T|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_9|ENST00000360835|protein_coding|10/22|c.1157G>A||||||,T|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_9|ENST00000360835|protein_coding|9/22|c.1157G>A||||||,T|sequence_feature|LOW|SCUBE1|ENSG00000159307|disulfide_bond|ENST00000360835|protein_coding|10/22|c.1157G>A||||||,T|upstream_gene_variant|MODIFIER|Z82214.2|ENSG00000234892|transcript|ENST00000419643|antisense||n.-1C>T|||||4717|,T|downstream_gene_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000449304|protein_coding||c.*524G>A|||||4332|WARNING_TRANSCRIPT_INCOMPLETE 22 43623515 . C T . . ANN=T|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_9|ENST00000360835|protein_coding|10/22|c.1085-13G>A||||||,T|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_9|ENST00000360835|protein_coding|9/22|c.1085-13G>A||||||,T|upstream_gene_variant|MODIFIER|Z82214.2|ENSG00000234892|transcript|ENST00000419643|antisense||n.-1C>T|||||4632|,T|downstream_gene_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000449304|protein_coding||c.*524G>A|||||4247|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|9/21|c.1085-13G>A|||||| 22 43625045 . G C . . ANN=C|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_9|ENST00000360835|protein_coding|10/22|c.1084+33C>G||||||,C|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_9|ENST00000360835|protein_coding|9/22|c.1084+33C>G||||||,C|upstream_gene_variant|MODIFIER|Z82214.2|ENSG00000234892|transcript|ENST00000419643|antisense||n.-1G>C|||||3102|,C|downstream_gene_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000449304|protein_coding||c.*524C>G|||||2717|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|9/21|c.1084+33C>G|||||| 22 43625063 . G A . . ANN=A|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_9|ENST00000360835|protein_coding|10/22|c.1084+15C>T||||||,A|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_9|ENST00000360835|protein_coding|9/22|c.1084+15C>T||||||,A|upstream_gene_variant|MODIFIER|Z82214.2|ENSG00000234892|transcript|ENST00000419643|antisense||n.-1G>A|||||3084|,A|downstream_gene_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000449304|protein_coding||c.*524C>T|||||2699|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|9/21|c.1084+15C>T|||||| 22 43625093 . T C . . ANN=C|missense_variant|MODERATE|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|9/22|c.1069A>G|p.Thr357Ala|1196/9808|1069/2967|357/988||,C|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_8|ENST00000360835|protein_coding|8/22|c.1069A>G||||||,C|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_8|ENST00000360835|protein_coding|9/22|c.1069A>G||||||,C|sequence_feature|LOW|SCUBE1|ENSG00000159307|disulfide_bond|ENST00000360835|protein_coding|9/22|c.1069A>G||||||,C|upstream_gene_variant|MODIFIER|Z82214.2|ENSG00000234892|transcript|ENST00000419643|antisense||n.-1T>C|||||3054|,C|downstream_gene_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000449304|protein_coding||c.*524A>G|||||2669|WARNING_TRANSCRIPT_INCOMPLETE 22 43625113 . C T . . ANN=T|missense_variant|MODERATE|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|9/22|c.1049G>A|p.Arg350His|1176/9808|1049/2967|350/988||,T|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_8|ENST00000360835|protein_coding|8/22|c.1049G>A||||||,T|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_8|ENST00000360835|protein_coding|9/22|c.1049G>A||||||,T|sequence_feature|LOW|SCUBE1|ENSG00000159307|disulfide_bond|ENST00000360835|protein_coding|9/22|c.1049G>A||||||,T|upstream_gene_variant|MODIFIER|Z82214.2|ENSG00000234892|transcript|ENST00000419643|antisense||n.-1C>T|||||3034|,T|downstream_gene_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000449304|protein_coding||c.*524G>A|||||2649|WARNING_TRANSCRIPT_INCOMPLETE 22 43625127 . C T . . ANN=T|synonymous_variant|LOW|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|9/22|c.1035G>A|p.Gln345Gln|1162/9808|1035/2967|345/988||,T|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_8|ENST00000360835|protein_coding|8/22|c.1035G>A||||||,T|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_8|ENST00000360835|protein_coding|9/22|c.1035G>A||||||,T|sequence_feature|LOW|SCUBE1|ENSG00000159307|disulfide_bond|ENST00000360835|protein_coding|9/22|c.1035G>A||||||,T|upstream_gene_variant|MODIFIER|Z82214.2|ENSG00000234892|transcript|ENST00000419643|antisense||n.-1C>T|||||3020|,T|downstream_gene_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000449304|protein_coding||c.*524G>A|||||2635|WARNING_TRANSCRIPT_INCOMPLETE 22 43625225 . G T . . ANN=T|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_8|ENST00000360835|protein_coding|8/22|c.968-31C>A||||||,T|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_8|ENST00000360835|protein_coding|9/22|c.968-31C>A||||||,T|upstream_gene_variant|MODIFIER|Z82214.2|ENSG00000234892|transcript|ENST00000419643|antisense||n.-1G>T|||||2922|,T|downstream_gene_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000449304|protein_coding||c.*524C>A|||||2537|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|8/21|c.968-31C>A|||||| 22 43627712 . C T . . ANN=T|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_8|ENST00000360835|protein_coding|8/22|c.967+47G>A||||||,T|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_8|ENST00000360835|protein_coding|9/22|c.967+47G>A||||||,T|upstream_gene_variant|MODIFIER|Z82214.2|ENSG00000234892|transcript|ENST00000419643|antisense||n.-1C>T|||||435|,T|downstream_gene_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000449304|protein_coding||c.*524G>A|||||50|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|8/21|c.967+47G>A|||||| 22 43627727 . C T . . ANN=T|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_8|ENST00000360835|protein_coding|8/22|c.967+32G>A||||||,T|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_8|ENST00000360835|protein_coding|9/22|c.967+32G>A||||||,T|upstream_gene_variant|MODIFIER|Z82214.2|ENSG00000234892|transcript|ENST00000419643|antisense||n.-1C>T|||||420|,T|downstream_gene_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000449304|protein_coding||c.*524G>A|||||35|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|8/21|c.967+32G>A|||||| 22 43627728 . G A . . ANN=A|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_8|ENST00000360835|protein_coding|8/22|c.967+31C>T||||||,A|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_8|ENST00000360835|protein_coding|9/22|c.967+31C>T||||||,A|upstream_gene_variant|MODIFIER|Z82214.2|ENSG00000234892|transcript|ENST00000419643|antisense||n.-1G>A|||||419|,A|downstream_gene_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000449304|protein_coding||c.*524C>T|||||34|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|8/21|c.967+31C>T|||||| 22 43627838 . G A . . ANN=A|synonymous_variant|LOW|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|8/22|c.888C>T|p.Phe296Phe|1015/9808|888/2967|296/988||,A|synonymous_variant|LOW|SCUBE1|ENSG00000159307|transcript|ENST00000449304|protein_coding|5/5|c.447C>T|p.Phe149Phe|448/524|447/523|149/173||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_7|ENST00000360835|protein_coding|8/22|c.888C>T||||||,A|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_7|ENST00000360835|protein_coding|7/22|c.888C>T||||||,A|sequence_feature|LOW|SCUBE1|ENSG00000159307|disulfide_bond|ENST00000360835|protein_coding|8/22|c.888C>T||||||,A|upstream_gene_variant|MODIFIER|Z82214.2|ENSG00000234892|transcript|ENST00000419643|antisense||n.-1G>A|||||309| 22 43634809 . C T . . ANN=T|synonymous_variant|LOW|SCUBE1|ENSG00000159307|transcript|ENST00000290460|protein_coding|8/8|c.969G>A|p.Leu323Leu|1031/2258|969/1044|323/347||,T|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_7|ENST00000360835|protein_coding|8/22|c.844+35G>A||||||,T|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_7|ENST00000360835|protein_coding|7/22|c.844+35G>A||||||,T|intron_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|7/21|c.844+35G>A||||||,T|intron_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000449304|protein_coding|4/4|c.403+35G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|Z82214.2|ENSG00000234892|transcript|ENST00000419643|antisense|3/3|n.781C>T|||||| 22 43634902 . G A . . ANN=A|synonymous_variant|LOW|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|7/22|c.786C>T|p.Gly262Gly|913/9808|786/2967|262/988||,A|synonymous_variant|LOW|SCUBE1|ENSG00000159307|transcript|ENST00000449304|protein_coding|4/5|c.345C>T|p.Gly115Gly|346/524|345/523|115/173||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|SCUBE1|ENSG00000159307|transcript|ENST00000290460|protein_coding|8/8|c.876C>T|p.Gly292Gly|938/2258|876/1044|292/347||,A|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_5|ENST00000360835|protein_coding|7/22|c.786C>T||||||,A|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_6|ENST00000360835|protein_coding|6/22|c.786C>T||||||,A|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_6|ENST00000360835|protein_coding|7/22|c.786C>T||||||,A|non_coding_exon_variant|MODIFIER|Z82214.2|ENSG00000234892|transcript|ENST00000419643|antisense|3/3|n.874G>A|||||| 22 43634953 . G A . . ANN=A|synonymous_variant|LOW|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|7/22|c.735C>T|p.Cys245Cys|862/9808|735/2967|245/988||,A|synonymous_variant|LOW|SCUBE1|ENSG00000159307|transcript|ENST00000449304|protein_coding|4/5|c.294C>T|p.Cys98Cys|295/524|294/523|98/173||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|SCUBE1|ENSG00000159307|transcript|ENST00000290460|protein_coding|8/8|c.825C>T|p.Cys275Cys|887/2258|825/1044|275/347||,A|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_5|ENST00000360835|protein_coding|7/22|c.735C>T||||||,A|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_6|ENST00000360835|protein_coding|6/22|c.735C>T||||||,A|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_6|ENST00000360835|protein_coding|7/22|c.735C>T||||||,A|non_coding_exon_variant|MODIFIER|Z82214.2|ENSG00000234892|transcript|ENST00000419643|antisense|3/3|n.925G>A|||||| 22 43654190 . C T . . ANN=T|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_6|ENST00000360835|protein_coding|6/22|c.727+35G>A||||||,T|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_6|ENST00000360835|protein_coding|7/22|c.727+35G>A||||||,T|intron_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|6/21|c.727+35G>A||||||,T|intron_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000449304|protein_coding|2/4|c.196+35G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000290460|protein_coding|6/7|c.727+35G>A|||||| 22 43654226 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|6/22|c.726C>T|p.Ile242Ile|853/9808|726/2967|242/988||,A|splice_region_variant&synonymous_variant|LOW|SCUBE1|ENSG00000159307|transcript|ENST00000449304|protein_coding|2/5|c.195C>T|p.Ile65Ile|196/524|195/523|65/173||WARNING_TRANSCRIPT_INCOMPLETE,A|splice_region_variant&synonymous_variant|LOW|SCUBE1|ENSG00000159307|transcript|ENST00000290460|protein_coding|6/8|c.726C>T|p.Ile242Ile|788/2258|726/1044|242/347||,A|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_6|ENST00000360835|protein_coding|6/22|c.726C>T||||||,A|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_6|ENST00000360835|protein_coding|7/22|c.726C>T|||||| 22 43654253 . G A . . ANN=A|synonymous_variant|LOW|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|6/22|c.699C>T|p.Ala233Ala|826/9808|699/2967|233/988||,A|synonymous_variant|LOW|SCUBE1|ENSG00000159307|transcript|ENST00000449304|protein_coding|2/5|c.168C>T|p.Ala56Ala|169/524|168/523|56/173||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|SCUBE1|ENSG00000159307|transcript|ENST00000290460|protein_coding|6/8|c.699C>T|p.Ala233Ala|761/2258|699/1044|233/347|| 22 43654278 . G A . . ANN=A|missense_variant|MODERATE|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|6/22|c.674C>T|p.Thr225Met|801/9808|674/2967|225/988||,A|missense_variant|MODERATE|SCUBE1|ENSG00000159307|transcript|ENST00000449304|protein_coding|2/5|c.143C>T|p.Thr48Met|144/524|143/523|48/173||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|SCUBE1|ENSG00000159307|transcript|ENST00000290460|protein_coding|6/8|c.674C>T|p.Thr225Met|736/2258|674/1044|225/347|| 22 43658691 . C T . . ANN=T|intron_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|5/21|c.610+35G>A||||||,T|intron_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000449304|protein_coding|1/4|c.79+35G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000290460|protein_coding|5/7|c.610+35G>A|||||| 22 43658774 . C T . . ANN=T|missense_variant|MODERATE|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|5/22|c.562G>A|p.Asp188Asn|689/9808|562/2967|188/988||,T|missense_variant|MODERATE|SCUBE1|ENSG00000159307|transcript|ENST00000449304|protein_coding|1/5|c.31G>A|p.Asp11Asn|32/524|31/523|11/173||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|SCUBE1|ENSG00000159307|transcript|ENST00000290460|protein_coding|5/8|c.562G>A|p.Asp188Asn|624/2258|562/1044|188/347||,T|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_4|ENST00000360835|protein_coding|5/22|c.562G>A|||||| 22 43658876 . C T . . ANN=T|upstream_gene_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000449304|protein_coding||c.-2G>A|||||71|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|4/21|c.485-25G>A||||||,T|intron_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000290460|protein_coding|4/7|c.485-25G>A|||||| 22 43658892 . C A . . ANN=A|upstream_gene_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000449304|protein_coding||c.-2G>T|||||87|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|4/21|c.485-41G>T||||||,A|intron_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000290460|protein_coding|4/7|c.485-41G>T|||||| 22 43687007 . C T . . ANN=T|intron_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|4/21|c.484+45G>A||||||,T|intron_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000290460|protein_coding|4/7|c.484+45G>A|||||| 22 43687014 . G T . . ANN=T|intron_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|4/21|c.484+38C>A||||||,T|intron_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000290460|protein_coding|4/7|c.484+38C>A|||||| 22 43687171 . T C . . ANN=C|missense_variant|MODERATE|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|4/22|c.365A>G|p.Gln122Arg|492/9808|365/2967|122/988||,C|missense_variant|MODERATE|SCUBE1|ENSG00000159307|transcript|ENST00000290460|protein_coding|4/8|c.365A>G|p.Gln122Arg|427/2258|365/1044|122/347||,C|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_3|ENST00000360835|protein_coding|3/22|c.365A>G||||||,C|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_3|ENST00000360835|protein_coding|4/22|c.365A>G||||||,C|sequence_feature|LOW|SCUBE1|ENSG00000159307|disulfide_bond|ENST00000360835|protein_coding|4/22|c.365A>G|||||| 22 43687213 . C T . . ANN=T|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_3|ENST00000360835|protein_coding|3/22|c.350-27G>A||||||,T|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_3|ENST00000360835|protein_coding|4/22|c.350-27G>A||||||,T|intron_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|3/21|c.350-27G>A||||||,T|intron_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000290460|protein_coding|3/7|c.350-27G>A|||||| 22 43716097 . G A . . ANN=A|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_2|ENST00000360835|protein_coding|3/22|c.221-26C>T||||||,A|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_2|ENST00000360835|protein_coding|2/22|c.221-26C>T||||||,A|upstream_gene_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000461595|processed_transcript||n.-1C>T|||||26|,A|upstream_gene_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000480833|processed_transcript||n.-1C>T|||||26|,A|intron_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|2/21|c.221-26C>T||||||,A|intron_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000290460|protein_coding|2/7|c.221-26C>T|||||| 22 43716118 . T G . . ANN=G|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_2|ENST00000360835|protein_coding|3/22|c.221-47A>C||||||,G|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_2|ENST00000360835|protein_coding|2/22|c.221-47A>C||||||,G|upstream_gene_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000461595|processed_transcript||n.-1A>C|||||47|,G|upstream_gene_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000480833|processed_transcript||n.-1A>C|||||47|,G|intron_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|2/21|c.221-47A>C||||||,G|intron_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000290460|protein_coding|2/7|c.221-47A>C|||||| 22 43735086 . C T . . ANN=T|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_2|ENST00000360835|protein_coding|3/22|c.220+24G>A||||||,T|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_2|ENST00000360835|protein_coding|2/22|c.220+24G>A||||||,T|intron_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|2/21|c.220+24G>A||||||,T|intron_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000290460|protein_coding|2/7|c.220+24G>A|||||| 22 43735096 . C T . . ANN=T|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_2|ENST00000360835|protein_coding|3/22|c.220+14G>A||||||,T|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_2|ENST00000360835|protein_coding|2/22|c.220+14G>A||||||,T|intron_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|2/21|c.220+14G>A||||||,T|intron_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000290460|protein_coding|2/7|c.220+14G>A|||||| 22 43735185 . T C . . ANN=C|missense_variant|MODERATE|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|2/22|c.145A>G|p.Ile49Val|272/9808|145/2967|49/988||,C|missense_variant|MODERATE|SCUBE1|ENSG00000159307|transcript|ENST00000290460|protein_coding|2/8|c.145A>G|p.Ile49Val|207/2258|145/1044|49/347||,C|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_1|ENST00000360835|protein_coding|2/22|c.145A>G||||||,C|sequence_feature|LOW|SCUBE1|ENSG00000159307|disulfide_bond|ENST00000360835|protein_coding|2/22|c.145A>G|||||| 22 43735234 . G A . . ANN=A|synonymous_variant|LOW|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|2/22|c.96C>T|p.Val32Val|223/9808|96/2967|32/988||,A|synonymous_variant|LOW|SCUBE1|ENSG00000159307|transcript|ENST00000290460|protein_coding|2/8|c.96C>T|p.Val32Val|158/2258|96/1044|32/347|| 22 43739290 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|1/22|c.-23G>A|||||23|,T|5_prime_UTR_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000290460|protein_coding|1/8|c.-23G>A|||||23| 22 43820952 . C T . . ANN=T|synonymous_variant|LOW|MPPED1|ENSG00000186732|transcript|ENST00000538182|protein_coding|2/7|c.60C>T|p.Gly20Gly|401/1838|60/1080|20/359||,T|5_prime_UTR_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000417669|protein_coding|2/7|c.-40C>T|||||40|,T|5_prime_UTR_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000334209|protein_coding|2/3|c.-40C>T|||||40|WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000443721|protein_coding|2/7|c.-40C>T|||||40|,T|5_prime_UTR_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000447567|protein_coding|3/3|c.-40C>T|||||40|WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000542779|protein_coding|2/7|c.-40C>T|||||40|,T|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000414469|protein_coding|1/5|c.-94-10002C>T||||||,T|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000439548|protein_coding|1/4|c.-69+12788C>T||||||,T|non_coding_exon_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000480239|processed_transcript|2/2|n.299C>T|||||| 22 43820981 . G A . . ANN=A|missense_variant|MODERATE|MPPED1|ENSG00000186732|transcript|ENST00000538182|protein_coding|2/7|c.89G>A|p.Arg30Gln|430/1838|89/1080|30/359||,A|5_prime_UTR_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000417669|protein_coding|2/7|c.-11G>A|||||11|,A|5_prime_UTR_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000334209|protein_coding|2/3|c.-11G>A|||||11|WARNING_TRANSCRIPT_INCOMPLETE,A|5_prime_UTR_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000443721|protein_coding|2/7|c.-11G>A|||||11|,A|5_prime_UTR_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000447567|protein_coding|3/3|c.-11G>A|||||11|WARNING_TRANSCRIPT_INCOMPLETE,A|5_prime_UTR_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000542779|protein_coding|2/7|c.-11G>A|||||11|,A|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000414469|protein_coding|1/5|c.-94-9973G>A||||||,A|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000439548|protein_coding|1/4|c.-69+12817G>A||||||,A|non_coding_exon_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000480239|processed_transcript|2/2|n.328G>A|||||| 22 43830908 . C T . . ANN=T|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000538182|protein_coding|2/6|c.324-46C>T||||||,T|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000417669|protein_coding|2/6|c.225-46C>T||||||,T|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000334209|protein_coding|2/2|c.225-46C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000414469|protein_coding|1/5|c.-94-46C>T||||||,T|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000439548|protein_coding|1/4|c.-69+22744C>T||||||,T|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000443721|protein_coding|2/6|c.225-46C>T||||||,T|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000542779|protein_coding|2/6|c.225-46C>T|||||| 22 43830910 . C T . . ANN=T|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000538182|protein_coding|2/6|c.324-44C>T||||||,T|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000417669|protein_coding|2/6|c.225-44C>T||||||,T|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000334209|protein_coding|2/2|c.225-44C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000414469|protein_coding|1/5|c.-94-44C>T||||||,T|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000439548|protein_coding|1/4|c.-69+22746C>T||||||,T|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000443721|protein_coding|2/6|c.225-44C>T||||||,T|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000542779|protein_coding|2/6|c.225-44C>T|||||| 22 43830921 . C T . . ANN=T|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000538182|protein_coding|2/6|c.324-33C>T||||||,T|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000417669|protein_coding|2/6|c.225-33C>T||||||,T|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000334209|protein_coding|2/2|c.225-33C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000414469|protein_coding|1/5|c.-94-33C>T||||||,T|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000439548|protein_coding|1/4|c.-69+22757C>T||||||,T|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000443721|protein_coding|2/6|c.225-33C>T||||||,T|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000542779|protein_coding|2/6|c.225-33C>T|||||| 22 43830996 . C T . . ANN=T|synonymous_variant|LOW|MPPED1|ENSG00000186732|transcript|ENST00000538182|protein_coding|3/7|c.366C>T|p.Tyr122Tyr|707/1838|366/1080|122/359||,T|synonymous_variant|LOW|MPPED1|ENSG00000186732|transcript|ENST00000417669|protein_coding|3/7|c.267C>T|p.Tyr89Tyr|711/3657|267/981|89/326||,T|synonymous_variant|LOW|MPPED1|ENSG00000186732|transcript|ENST00000334209|protein_coding|3/3|c.267C>T|p.Tyr89Tyr|491/582|267/358|89/118||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|MPPED1|ENSG00000186732|transcript|ENST00000443721|protein_coding|3/7|c.267C>T|p.Tyr89Tyr|490/2507|267/981|89/326||,T|synonymous_variant|LOW|MPPED1|ENSG00000186732|transcript|ENST00000542779|protein_coding|3/7|c.267C>T|p.Tyr89Tyr|491/1483|267/981|89/326||,T|5_prime_UTR_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000414469|protein_coding|2/6|c.-52C>T|||||52|,T|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000439548|protein_coding|1/4|c.-69+22832C>T|||||| 22 43831005 . C T . . ANN=T|synonymous_variant|LOW|MPPED1|ENSG00000186732|transcript|ENST00000538182|protein_coding|3/7|c.375C>T|p.Phe125Phe|716/1838|375/1080|125/359||,T|synonymous_variant|LOW|MPPED1|ENSG00000186732|transcript|ENST00000417669|protein_coding|3/7|c.276C>T|p.Phe92Phe|720/3657|276/981|92/326||,T|synonymous_variant|LOW|MPPED1|ENSG00000186732|transcript|ENST00000334209|protein_coding|3/3|c.276C>T|p.Phe92Phe|500/582|276/358|92/118||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|MPPED1|ENSG00000186732|transcript|ENST00000443721|protein_coding|3/7|c.276C>T|p.Phe92Phe|499/2507|276/981|92/326||,T|synonymous_variant|LOW|MPPED1|ENSG00000186732|transcript|ENST00000542779|protein_coding|3/7|c.276C>T|p.Phe92Phe|500/1483|276/981|92/326||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|MPPED1|ENSG00000186732|transcript|ENST00000414469|protein_coding|2/6|c.-43C>T||||||,T|5_prime_UTR_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000414469|protein_coding|2/6|c.-43C>T|||||43|,T|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000439548|protein_coding|1/4|c.-69+22841C>T|||||| 22 43831023 . C T . . ANN=T|synonymous_variant|LOW|MPPED1|ENSG00000186732|transcript|ENST00000538182|protein_coding|3/7|c.393C>T|p.Thr131Thr|734/1838|393/1080|131/359||,T|synonymous_variant|LOW|MPPED1|ENSG00000186732|transcript|ENST00000417669|protein_coding|3/7|c.294C>T|p.Thr98Thr|738/3657|294/981|98/326||,T|synonymous_variant|LOW|MPPED1|ENSG00000186732|transcript|ENST00000334209|protein_coding|3/3|c.294C>T|p.Thr98Thr|518/582|294/358|98/118||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|MPPED1|ENSG00000186732|transcript|ENST00000443721|protein_coding|3/7|c.294C>T|p.Thr98Thr|517/2507|294/981|98/326||,T|synonymous_variant|LOW|MPPED1|ENSG00000186732|transcript|ENST00000542779|protein_coding|3/7|c.294C>T|p.Thr98Thr|518/1483|294/981|98/326||,T|5_prime_UTR_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000414469|protein_coding|2/6|c.-25C>T|||||25|,T|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000439548|protein_coding|1/4|c.-69+22859C>T|||||| 22 43831056 . C T . . ANN=T|synonymous_variant|LOW|MPPED1|ENSG00000186732|transcript|ENST00000538182|protein_coding|3/7|c.426C>T|p.Tyr142Tyr|767/1838|426/1080|142/359||,T|synonymous_variant|LOW|MPPED1|ENSG00000186732|transcript|ENST00000417669|protein_coding|3/7|c.327C>T|p.Tyr109Tyr|771/3657|327/981|109/326||,T|synonymous_variant|LOW|MPPED1|ENSG00000186732|transcript|ENST00000334209|protein_coding|3/3|c.327C>T|p.Tyr109Tyr|551/582|327/358|109/118||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|MPPED1|ENSG00000186732|transcript|ENST00000414469|protein_coding|2/6|c.9C>T|p.Tyr3Tyr|248/949|9/663|3/220||,T|synonymous_variant|LOW|MPPED1|ENSG00000186732|transcript|ENST00000443721|protein_coding|3/7|c.327C>T|p.Tyr109Tyr|550/2507|327/981|109/326||,T|synonymous_variant|LOW|MPPED1|ENSG00000186732|transcript|ENST00000542779|protein_coding|3/7|c.327C>T|p.Tyr109Tyr|551/1483|327/981|109/326||,T|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000439548|protein_coding|1/4|c.-69+22892C>T|||||| 22 43831058 . G C . . ANN=C|missense_variant|MODERATE|MPPED1|ENSG00000186732|transcript|ENST00000538182|protein_coding|3/7|c.428G>C|p.Gly143Ala|769/1838|428/1080|143/359||,C|missense_variant|MODERATE|MPPED1|ENSG00000186732|transcript|ENST00000417669|protein_coding|3/7|c.329G>C|p.Gly110Ala|773/3657|329/981|110/326||,C|missense_variant|MODERATE|MPPED1|ENSG00000186732|transcript|ENST00000334209|protein_coding|3/3|c.329G>C|p.Gly110Ala|553/582|329/358|110/118||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|MPPED1|ENSG00000186732|transcript|ENST00000414469|protein_coding|2/6|c.11G>C|p.Gly4Ala|250/949|11/663|4/220||,C|missense_variant|MODERATE|MPPED1|ENSG00000186732|transcript|ENST00000443721|protein_coding|3/7|c.329G>C|p.Gly110Ala|552/2507|329/981|110/326||,C|missense_variant|MODERATE|MPPED1|ENSG00000186732|transcript|ENST00000542779|protein_coding|3/7|c.329G>C|p.Gly110Ala|553/1483|329/981|110/326||,C|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000439548|protein_coding|1/4|c.-69+22894G>C|||||| 22 43870704 . G A . . ANN=A|synonymous_variant|LOW|MPPED1|ENSG00000186732|transcript|ENST00000538182|protein_coding|4/7|c.594G>A|p.Gln198Gln|935/1838|594/1080|198/359||,A|synonymous_variant|LOW|MPPED1|ENSG00000186732|transcript|ENST00000417669|protein_coding|4/7|c.495G>A|p.Gln165Gln|939/3657|495/981|165/326||,A|synonymous_variant|LOW|MPPED1|ENSG00000186732|transcript|ENST00000414469|protein_coding|3/6|c.177G>A|p.Gln59Gln|416/949|177/663|59/220||,A|synonymous_variant|LOW|MPPED1|ENSG00000186732|transcript|ENST00000439548|protein_coding|2/5|c.21G>A|p.Gln7Gln|234/1074|21/507|7/168||,A|synonymous_variant|LOW|MPPED1|ENSG00000186732|transcript|ENST00000443721|protein_coding|4/7|c.495G>A|p.Gln165Gln|718/2507|495/981|165/326||,A|synonymous_variant|LOW|MPPED1|ENSG00000186732|transcript|ENST00000542779|protein_coding|4/7|c.495G>A|p.Gln165Gln|719/1483|495/981|165/326|| 22 43870725 . T A . . ANN=A|synonymous_variant|LOW|MPPED1|ENSG00000186732|transcript|ENST00000538182|protein_coding|4/7|c.615T>A|p.Ser205Ser|956/1838|615/1080|205/359||,A|synonymous_variant|LOW|MPPED1|ENSG00000186732|transcript|ENST00000417669|protein_coding|4/7|c.516T>A|p.Ser172Ser|960/3657|516/981|172/326||,A|synonymous_variant|LOW|MPPED1|ENSG00000186732|transcript|ENST00000414469|protein_coding|3/6|c.198T>A|p.Ser66Ser|437/949|198/663|66/220||,A|synonymous_variant|LOW|MPPED1|ENSG00000186732|transcript|ENST00000439548|protein_coding|2/5|c.42T>A|p.Ser14Ser|255/1074|42/507|14/168||,A|synonymous_variant|LOW|MPPED1|ENSG00000186732|transcript|ENST00000443721|protein_coding|4/7|c.516T>A|p.Ser172Ser|739/2507|516/981|172/326||,A|synonymous_variant|LOW|MPPED1|ENSG00000186732|transcript|ENST00000542779|protein_coding|4/7|c.516T>A|p.Ser172Ser|740/1483|516/981|172/326|| 22 43870743 . G A . . ANN=A|synonymous_variant|LOW|MPPED1|ENSG00000186732|transcript|ENST00000538182|protein_coding|4/7|c.633G>A|p.Pro211Pro|974/1838|633/1080|211/359||,A|synonymous_variant|LOW|MPPED1|ENSG00000186732|transcript|ENST00000417669|protein_coding|4/7|c.534G>A|p.Pro178Pro|978/3657|534/981|178/326||,A|synonymous_variant|LOW|MPPED1|ENSG00000186732|transcript|ENST00000414469|protein_coding|3/6|c.216G>A|p.Pro72Pro|455/949|216/663|72/220||,A|synonymous_variant|LOW|MPPED1|ENSG00000186732|transcript|ENST00000439548|protein_coding|2/5|c.60G>A|p.Pro20Pro|273/1074|60/507|20/168||,A|synonymous_variant|LOW|MPPED1|ENSG00000186732|transcript|ENST00000443721|protein_coding|4/7|c.534G>A|p.Pro178Pro|757/2507|534/981|178/326||,A|synonymous_variant|LOW|MPPED1|ENSG00000186732|transcript|ENST00000542779|protein_coding|4/7|c.534G>A|p.Pro178Pro|758/1483|534/981|178/326|| 22 43870761 . G A . . ANN=A|synonymous_variant|LOW|MPPED1|ENSG00000186732|transcript|ENST00000538182|protein_coding|4/7|c.651G>A|p.Val217Val|992/1838|651/1080|217/359||,A|synonymous_variant|LOW|MPPED1|ENSG00000186732|transcript|ENST00000417669|protein_coding|4/7|c.552G>A|p.Val184Val|996/3657|552/981|184/326||,A|synonymous_variant|LOW|MPPED1|ENSG00000186732|transcript|ENST00000414469|protein_coding|3/6|c.234G>A|p.Val78Val|473/949|234/663|78/220||,A|synonymous_variant|LOW|MPPED1|ENSG00000186732|transcript|ENST00000439548|protein_coding|2/5|c.78G>A|p.Val26Val|291/1074|78/507|26/168||,A|synonymous_variant|LOW|MPPED1|ENSG00000186732|transcript|ENST00000443721|protein_coding|4/7|c.552G>A|p.Val184Val|775/2507|552/981|184/326||,A|synonymous_variant|LOW|MPPED1|ENSG00000186732|transcript|ENST00000542779|protein_coding|4/7|c.552G>A|p.Val184Val|776/1483|552/981|184/326|| 22 43870800 . G A . . ANN=A|synonymous_variant|LOW|MPPED1|ENSG00000186732|transcript|ENST00000538182|protein_coding|4/7|c.690G>A|p.Ser230Ser|1031/1838|690/1080|230/359||,A|synonymous_variant|LOW|MPPED1|ENSG00000186732|transcript|ENST00000417669|protein_coding|4/7|c.591G>A|p.Ser197Ser|1035/3657|591/981|197/326||,A|synonymous_variant|LOW|MPPED1|ENSG00000186732|transcript|ENST00000414469|protein_coding|3/6|c.273G>A|p.Ser91Ser|512/949|273/663|91/220||,A|synonymous_variant|LOW|MPPED1|ENSG00000186732|transcript|ENST00000439548|protein_coding|2/5|c.117G>A|p.Ser39Ser|330/1074|117/507|39/168||,A|synonymous_variant|LOW|MPPED1|ENSG00000186732|transcript|ENST00000443721|protein_coding|4/7|c.591G>A|p.Ser197Ser|814/2507|591/981|197/326||,A|synonymous_variant|LOW|MPPED1|ENSG00000186732|transcript|ENST00000542779|protein_coding|4/7|c.591G>A|p.Ser197Ser|815/1483|591/981|197/326|| 22 43870810 . G A . . ANN=A|missense_variant|MODERATE|MPPED1|ENSG00000186732|transcript|ENST00000538182|protein_coding|4/7|c.700G>A|p.Val234Met|1041/1838|700/1080|234/359||,A|missense_variant|MODERATE|MPPED1|ENSG00000186732|transcript|ENST00000417669|protein_coding|4/7|c.601G>A|p.Val201Met|1045/3657|601/981|201/326||,A|missense_variant|MODERATE|MPPED1|ENSG00000186732|transcript|ENST00000414469|protein_coding|3/6|c.283G>A|p.Val95Met|522/949|283/663|95/220||,A|missense_variant|MODERATE|MPPED1|ENSG00000186732|transcript|ENST00000439548|protein_coding|2/5|c.127G>A|p.Val43Met|340/1074|127/507|43/168||,A|missense_variant|MODERATE|MPPED1|ENSG00000186732|transcript|ENST00000443721|protein_coding|4/7|c.601G>A|p.Val201Met|824/2507|601/981|201/326||,A|missense_variant|MODERATE|MPPED1|ENSG00000186732|transcript|ENST00000542779|protein_coding|4/7|c.601G>A|p.Val201Met|825/1483|601/981|201/326|| 22 43898489 . C T . . ANN=T|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000538182|protein_coding|5/6|c.848-35C>T||||||,T|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000417669|protein_coding|5/6|c.749-35C>T||||||,T|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000414469|protein_coding|4/5|c.431-35C>T||||||,T|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000439548|protein_coding|3/4|c.275-35C>T||||||,T|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000443721|protein_coding|5/6|c.749-35C>T||||||,T|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000542779|protein_coding|5/6|c.749-35C>T|||||| 22 43898650 . C T . . ANN=T|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000538182|protein_coding|6/6|c.961+13C>T||||||,T|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000417669|protein_coding|6/6|c.862+13C>T||||||,T|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000414469|protein_coding|5/5|c.544+13C>T||||||,T|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000439548|protein_coding|4/4|c.388+13C>T||||||,T|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000443721|protein_coding|6/6|c.862+13C>T||||||,T|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000542779|protein_coding|6/6|c.862+13C>T|||||| 22 43898667 . C T . . ANN=T|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000538182|protein_coding|6/6|c.961+30C>T||||||,T|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000417669|protein_coding|6/6|c.862+30C>T||||||,T|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000414469|protein_coding|5/5|c.544+30C>T||||||,T|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000439548|protein_coding|4/4|c.388+30C>T||||||,T|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000443721|protein_coding|6/6|c.862+30C>T||||||,T|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000542779|protein_coding|6/6|c.862+30C>T|||||| 22 43898685 . T C . . ANN=C|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000538182|protein_coding|6/6|c.961+48T>C||||||,C|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000417669|protein_coding|6/6|c.862+48T>C||||||,C|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000414469|protein_coding|5/5|c.544+48T>C||||||,C|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000439548|protein_coding|4/4|c.388+48T>C||||||,C|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000443721|protein_coding|6/6|c.862+48T>C||||||,C|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000542779|protein_coding|6/6|c.862+48T>C|||||| 22 43901333 . C T . . ANN=T|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000538182|protein_coding|6/6|c.962-45C>T||||||,T|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000417669|protein_coding|6/6|c.863-45C>T||||||,T|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000414469|protein_coding|5/5|c.545-45C>T||||||,T|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000439548|protein_coding|4/4|c.389-45C>T||||||,T|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000443721|protein_coding|6/6|c.863-45C>T||||||,T|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000542779|protein_coding|6/6|c.863-45C>T|||||| 22 43924691 . G T . . ANN=T|3_prime_UTR_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|32/32|c.*42C>A|||||42|,T|3_prime_UTR_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|30/30|c.*42C>A|||||42|,T|intron_variant|MODIFIER|EFCAB6-AS1|ENSG00000223843|transcript|ENST00000431327|antisense|2/2|n.382-6042G>T||||||,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|7/7|n.1185C>A||||||,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000483324|processed_transcript|3/3|n.450C>A||||||,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000477145|processed_transcript|3/3|n.361C>A|||||| 22 43924749 . C T . . ANN=T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|32/32|c.4490G>A|p.Arg1497Gln|4744/4869|4490/4506|1497/1501||,T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|30/30|c.4034G>A|p.Arg1345Gln|4299/4424|4034/4050|1345/1349||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_17|ENST00000262726|protein_coding|32/32|c.4490G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000262726|protein_coding|32/32|c.4490G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000262726|protein_coding|31/32|c.4490G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000262726|protein_coding|30/32|c.4490G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|32/32|c.4490G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|29/32|c.4490G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|31/32|c.4490G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|30/32|c.4490G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_17|ENST00000396231|protein_coding|30/30|c.4034G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000396231|protein_coding|30/30|c.4034G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000396231|protein_coding|29/30|c.4034G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000396231|protein_coding|28/30|c.4034G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|30/30|c.4034G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|27/30|c.4034G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|29/30|c.4034G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|28/30|c.4034G>A||||||,T|intron_variant|MODIFIER|EFCAB6-AS1|ENSG00000223843|transcript|ENST00000431327|antisense|2/2|n.382-5984C>T||||||,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|7/7|n.1127G>A||||||,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000483324|processed_transcript|3/3|n.392G>A||||||,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000477145|processed_transcript|3/3|n.303G>A|||||| 22 43924753 . G A . . ANN=A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|32/32|c.4486C>T|p.Leu1496Phe|4740/4869|4486/4506|1496/1501||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|30/30|c.4030C>T|p.Leu1344Phe|4295/4424|4030/4050|1344/1349||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_17|ENST00000262726|protein_coding|32/32|c.4486C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000262726|protein_coding|32/32|c.4486C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000262726|protein_coding|31/32|c.4486C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000262726|protein_coding|30/32|c.4486C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|32/32|c.4486C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|29/32|c.4486C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|31/32|c.4486C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|30/32|c.4486C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_17|ENST00000396231|protein_coding|30/30|c.4030C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000396231|protein_coding|30/30|c.4030C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000396231|protein_coding|29/30|c.4030C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000396231|protein_coding|28/30|c.4030C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|30/30|c.4030C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|27/30|c.4030C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|29/30|c.4030C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|28/30|c.4030C>T||||||,A|intron_variant|MODIFIER|EFCAB6-AS1|ENSG00000223843|transcript|ENST00000431327|antisense|2/2|n.382-5980G>A||||||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|7/7|n.1123C>T||||||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000483324|processed_transcript|3/3|n.388C>T||||||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000477145|processed_transcript|3/3|n.299C>T|||||| 22 43926715 . T G . . ANN=G|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|31/32|c.4363A>C|p.Ser1455Arg|4617/4869|4363/4506|1455/1501||,G|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|29/30|c.3907A>C|p.Ser1303Arg|4172/4424|3907/4050|1303/1349||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000262726|protein_coding|32/32|c.4363A>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000262726|protein_coding|31/32|c.4363A>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000262726|protein_coding|30/32|c.4363A>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|32/32|c.4363A>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|29/32|c.4363A>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|31/32|c.4363A>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|30/32|c.4363A>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_16|ENST00000262726|protein_coding|32/32|c.4363A>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_16|ENST00000262726|protein_coding|31/32|c.4363A>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000396231|protein_coding|30/30|c.3907A>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000396231|protein_coding|29/30|c.3907A>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000396231|protein_coding|28/30|c.3907A>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|30/30|c.3907A>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|27/30|c.3907A>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|29/30|c.3907A>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|28/30|c.3907A>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_16|ENST00000396231|protein_coding|30/30|c.3907A>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_16|ENST00000396231|protein_coding|29/30|c.3907A>C||||||,G|intron_variant|MODIFIER|EFCAB6-AS1|ENSG00000223843|transcript|ENST00000431327|antisense|2/2|n.382-4018T>G||||||,G|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|6/7|n.1000A>C||||||,G|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000483324|processed_transcript|2/3|n.265A>C||||||,G|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000477145|processed_transcript|2/3|n.176A>C|||||| 22 43926725 . T C . . ANN=C|synonymous_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|31/32|c.4353A>G|p.Thr1451Thr|4607/4869|4353/4506|1451/1501||,C|synonymous_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|29/30|c.3897A>G|p.Thr1299Thr|4162/4424|3897/4050|1299/1349||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000262726|protein_coding|32/32|c.4353A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000262726|protein_coding|31/32|c.4353A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000262726|protein_coding|30/32|c.4353A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|32/32|c.4353A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|29/32|c.4353A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|31/32|c.4353A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|30/32|c.4353A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_16|ENST00000262726|protein_coding|32/32|c.4353A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_16|ENST00000262726|protein_coding|31/32|c.4353A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000396231|protein_coding|30/30|c.3897A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000396231|protein_coding|29/30|c.3897A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000396231|protein_coding|28/30|c.3897A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|30/30|c.3897A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|27/30|c.3897A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|29/30|c.3897A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|28/30|c.3897A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_16|ENST00000396231|protein_coding|30/30|c.3897A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_16|ENST00000396231|protein_coding|29/30|c.3897A>G||||||,C|intron_variant|MODIFIER|EFCAB6-AS1|ENSG00000223843|transcript|ENST00000431327|antisense|2/2|n.382-4008T>C||||||,C|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|6/7|n.990A>G||||||,C|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000483324|processed_transcript|2/3|n.255A>G||||||,C|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000477145|processed_transcript|2/3|n.166A>G|||||| 22 43926729 . C A . . ANN=A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|31/32|c.4349G>T|p.Gly1450Val|4603/4869|4349/4506|1450/1501||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|29/30|c.3893G>T|p.Gly1298Val|4158/4424|3893/4050|1298/1349||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000262726|protein_coding|32/32|c.4349G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000262726|protein_coding|31/32|c.4349G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000262726|protein_coding|30/32|c.4349G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|32/32|c.4349G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|29/32|c.4349G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|31/32|c.4349G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|30/32|c.4349G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_16|ENST00000262726|protein_coding|32/32|c.4349G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_16|ENST00000262726|protein_coding|31/32|c.4349G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000396231|protein_coding|30/30|c.3893G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000396231|protein_coding|29/30|c.3893G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000396231|protein_coding|28/30|c.3893G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|30/30|c.3893G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|27/30|c.3893G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|29/30|c.3893G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|28/30|c.3893G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_16|ENST00000396231|protein_coding|30/30|c.3893G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_16|ENST00000396231|protein_coding|29/30|c.3893G>T||||||,A|intron_variant|MODIFIER|EFCAB6-AS1|ENSG00000223843|transcript|ENST00000431327|antisense|2/2|n.382-4004C>A||||||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|6/7|n.986G>T||||||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000483324|processed_transcript|2/3|n.251G>T||||||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000477145|processed_transcript|2/3|n.162G>T|||||| 22 43926741 . T C . . ANN=C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|31/32|c.4337A>G|p.Tyr1446Cys|4591/4869|4337/4506|1446/1501||,C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|29/30|c.3881A>G|p.Tyr1294Cys|4146/4424|3881/4050|1294/1349||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000262726|protein_coding|32/32|c.4337A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000262726|protein_coding|31/32|c.4337A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000262726|protein_coding|30/32|c.4337A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|32/32|c.4337A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|29/32|c.4337A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|31/32|c.4337A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|30/32|c.4337A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_16|ENST00000262726|protein_coding|32/32|c.4337A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_16|ENST00000262726|protein_coding|31/32|c.4337A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000396231|protein_coding|30/30|c.3881A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000396231|protein_coding|29/30|c.3881A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000396231|protein_coding|28/30|c.3881A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|30/30|c.3881A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|27/30|c.3881A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|29/30|c.3881A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|28/30|c.3881A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_16|ENST00000396231|protein_coding|30/30|c.3881A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_16|ENST00000396231|protein_coding|29/30|c.3881A>G||||||,C|intron_variant|MODIFIER|EFCAB6-AS1|ENSG00000223843|transcript|ENST00000431327|antisense|2/2|n.382-3992T>C||||||,C|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|6/7|n.974A>G||||||,C|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000483324|processed_transcript|2/3|n.239A>G||||||,C|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000477145|processed_transcript|2/3|n.150A>G|||||| 22 43926758 . C G . . ANN=G|synonymous_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|31/32|c.4320G>C|p.Arg1440Arg|4574/4869|4320/4506|1440/1501||,G|synonymous_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|29/30|c.3864G>C|p.Arg1288Arg|4129/4424|3864/4050|1288/1349||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000262726|protein_coding|32/32|c.4320G>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000262726|protein_coding|31/32|c.4320G>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000262726|protein_coding|30/32|c.4320G>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|32/32|c.4320G>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|29/32|c.4320G>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|31/32|c.4320G>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|30/32|c.4320G>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_16|ENST00000262726|protein_coding|32/32|c.4320G>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_16|ENST00000262726|protein_coding|31/32|c.4320G>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000396231|protein_coding|30/30|c.3864G>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000396231|protein_coding|29/30|c.3864G>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000396231|protein_coding|28/30|c.3864G>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|30/30|c.3864G>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|27/30|c.3864G>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|29/30|c.3864G>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|28/30|c.3864G>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_16|ENST00000396231|protein_coding|30/30|c.3864G>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_16|ENST00000396231|protein_coding|29/30|c.3864G>C||||||,G|intron_variant|MODIFIER|EFCAB6-AS1|ENSG00000223843|transcript|ENST00000431327|antisense|2/2|n.382-3975C>G||||||,G|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|6/7|n.957G>C||||||,G|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000483324|processed_transcript|2/3|n.222G>C||||||,G|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000477145|processed_transcript|2/3|n.133G>C|||||| 22 43926808 . CAGAGT C . . ANN=|frameshift_variant|HIGH|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|31/32|c.4265_4269delACTCT|p.Tyr1422fs|4523/4869|4265/4506|1422/1501||,|frameshift_variant|HIGH|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|29/30|c.3809_3813delACTCT|p.Tyr1270fs|4078/4424|3809/4050|1270/1349||,|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000262726|protein_coding|32/32|c.4265_4269delACTCT||||||,|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000262726|protein_coding|31/32|c.4265_4269delACTCT||||||,|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000262726|protein_coding|30/32|c.4265_4269delACTCT||||||,|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|32/32|c.4265_4269delACTCT||||||,|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|29/32|c.4265_4269delACTCT||||||,|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|31/32|c.4265_4269delACTCT||||||,|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|30/32|c.4265_4269delACTCT||||||,|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000396231|protein_coding|30/30|c.3809_3813delACTCT||||||,|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000396231|protein_coding|29/30|c.3809_3813delACTCT||||||,|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000396231|protein_coding|28/30|c.3809_3813delACTCT||||||,|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|30/30|c.3809_3813delACTCT||||||,|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|27/30|c.3809_3813delACTCT||||||,|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|29/30|c.3809_3813delACTCT||||||,|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|28/30|c.3809_3813delACTCT||||||,|intron_variant|MODIFIER|EFCAB6-AS1|ENSG00000223843|transcript|ENST00000431327|antisense|2/2|n.382-3923_382-3919delGAGTA||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|6/7|n.902_906delACTCT||||||,|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000483324|processed_transcript|2/3|n.167_171delACTCT||||||,|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000477145|processed_transcript|2/3|n.78_82delACTCT||||||;LOF=(EFCAB6|ENSG00000186976|11|0.18) 22 43926857 . CAAGAAGGGGT C . . ANN=|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000262726|protein_coding|32/32|c.4234-23_4234-14delACCCCTTCTT||||||,|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000262726|protein_coding|31/32|c.4234-23_4234-14delACCCCTTCTT||||||,|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000262726|protein_coding|30/32|c.4234-23_4234-14delACCCCTTCTT||||||,|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|32/32|c.4234-23_4234-14delACCCCTTCTT||||||,|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|29/32|c.4234-23_4234-14delACCCCTTCTT||||||,|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|31/32|c.4234-23_4234-14delACCCCTTCTT||||||,|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|30/32|c.4234-23_4234-14delACCCCTTCTT||||||,|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000396231|protein_coding|30/30|c.3778-23_3778-14delACCCCTTCTT||||||,|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000396231|protein_coding|29/30|c.3778-23_3778-14delACCCCTTCTT||||||,|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000396231|protein_coding|28/30|c.3778-23_3778-14delACCCCTTCTT||||||,|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|30/30|c.3778-23_3778-14delACCCCTTCTT||||||,|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|27/30|c.3778-23_3778-14delACCCCTTCTT||||||,|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|29/30|c.3778-23_3778-14delACCCCTTCTT||||||,|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|28/30|c.3778-23_3778-14delACCCCTTCTT||||||,|intron_variant|MODIFIER|EFCAB6-AS1|ENSG00000223843|transcript|ENST00000431327|antisense|2/2|n.382-3875_382-3866delAAGAAGGGGT||||||,|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|30/31|c.4234-23_4234-14delACCCCTTCTT||||||,|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|5/6|n.871-23_871-14delACCCCTTCTT||||||,|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|28/29|c.3778-23_3778-14delACCCCTTCTT||||||,|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000483324|processed_transcript|1/2|n.136-23_136-14delACCCCTTCTT||||||,|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000477145|processed_transcript|1/2|n.47-23_47-14delACCCCTTCTT|||||| 22 43930524 . C G . . ANN=G|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000262726|protein_coding|32/32|c.4233+44G>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000262726|protein_coding|31/32|c.4233+44G>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000262726|protein_coding|30/32|c.4233+44G>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|32/32|c.4233+44G>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|29/32|c.4233+44G>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|31/32|c.4233+44G>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|30/32|c.4233+44G>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000396231|protein_coding|30/30|c.3777+44G>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000396231|protein_coding|29/30|c.3777+44G>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000396231|protein_coding|28/30|c.3777+44G>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|30/30|c.3777+44G>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|27/30|c.3777+44G>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|29/30|c.3777+44G>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|28/30|c.3777+44G>C||||||,G|upstream_gene_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000483324|processed_transcript||n.-1G>C|||||1139|,G|upstream_gene_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000477145|processed_transcript||n.-1G>C|||||2583|,G|intron_variant|MODIFIER|EFCAB6-AS1|ENSG00000223843|transcript|ENST00000431327|antisense|2/2|n.382-209C>G||||||,G|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|30/31|c.4233+44G>C||||||,G|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|5/6|n.870+44G>C||||||,G|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|28/29|c.3777+44G>C|||||| 22 43930672 . C T . . ANN=T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|30/32|c.4129G>A|p.Gly1377Arg|4383/4869|4129/4506|1377/1501||,T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|28/30|c.3673G>A|p.Gly1225Arg|3938/4424|3673/4050|1225/1349||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|32/32|c.4129G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|29/32|c.4129G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|31/32|c.4129G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|30/32|c.4129G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_15|ENST00000262726|protein_coding|30/32|c.4129G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|30/30|c.3673G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|27/30|c.3673G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|29/30|c.3673G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|28/30|c.3673G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_15|ENST00000396231|protein_coding|28/30|c.3673G>A||||||,T|upstream_gene_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000483324|processed_transcript||n.-1G>A|||||1287|,T|upstream_gene_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000477145|processed_transcript||n.-1G>A|||||2731|,T|intron_variant|MODIFIER|EFCAB6-AS1|ENSG00000223843|transcript|ENST00000431327|antisense|2/2|n.382-61C>T||||||,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|5/7|n.766G>A|||||| 22 43930785 . G A . . ANN=A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|32/32|c.4049-33C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|29/32|c.4049-33C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|31/32|c.4049-33C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|30/32|c.4049-33C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|30/30|c.3593-33C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|27/30|c.3593-33C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|29/30|c.3593-33C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|28/30|c.3593-33C>T||||||,A|upstream_gene_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000483324|processed_transcript||n.-1C>T|||||1400|,A|upstream_gene_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000477145|processed_transcript||n.-1C>T|||||2844|,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|29/31|c.4049-33C>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|4/6|n.686-33C>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|27/29|c.3593-33C>T||||||,A|non_coding_exon_variant|MODIFIER|EFCAB6-AS1|ENSG00000223843|transcript|ENST00000431327|antisense|3/3|n.434G>A|||||| 22 43930797 . C T . . ANN=T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|32/32|c.4049-45G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|29/32|c.4049-45G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|31/32|c.4049-45G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|30/32|c.4049-45G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|30/30|c.3593-45G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|27/30|c.3593-45G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|29/30|c.3593-45G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|28/30|c.3593-45G>A||||||,T|upstream_gene_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000483324|processed_transcript||n.-1G>A|||||1412|,T|upstream_gene_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000477145|processed_transcript||n.-1G>A|||||2856|,T|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|29/31|c.4049-45G>A||||||,T|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|4/6|n.686-45G>A||||||,T|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|27/29|c.3593-45G>A||||||,T|non_coding_exon_variant|MODIFIER|EFCAB6-AS1|ENSG00000223843|transcript|ENST00000431327|antisense|3/3|n.446C>T|||||| 22 43933207 . TGCCACAGGG T . . ANN=|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|32/32|c.4048+41_4048+49delCCCTGTGGC||||||,|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|29/32|c.4048+41_4048+49delCCCTGTGGC||||||,|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|31/32|c.4048+41_4048+49delCCCTGTGGC||||||,|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|30/32|c.4048+41_4048+49delCCCTGTGGC||||||,|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|30/30|c.3592+41_3592+49delCCCTGTGGC||||||,|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|27/30|c.3592+41_3592+49delCCCTGTGGC||||||,|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|29/30|c.3592+41_3592+49delCCCTGTGGC||||||,|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|28/30|c.3592+41_3592+49delCCCTGTGGC||||||,|upstream_gene_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000483324|processed_transcript||n.-1_-1delCCCTGTGGC|||||3823|,|downstream_gene_variant|MODIFIER|EFCAB6-AS1|ENSG00000223843|transcript|ENST00000431327|antisense||n.*2396_*2396delGCCACAGGG|||||461|,|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|29/31|c.4048+41_4048+49delCCCTGTGGC||||||,|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|4/6|n.685+41_685+49delCCCTGTGGC||||||,|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|27/29|c.3592+41_3592+49delCCCTGTGGC|||||| 22 43933252 . C A . . ANN=A|splice_region_variant&intron_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|29/31|c.4048+5G>T||||||,A|splice_region_variant&intron_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|4/6|n.685+5G>T||||||,A|splice_region_variant&intron_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|27/29|c.3592+5G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|32/32|c.4048+5G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|29/32|c.4048+5G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|31/32|c.4048+5G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|30/32|c.4048+5G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|30/30|c.3592+5G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|27/30|c.3592+5G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|29/30|c.3592+5G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|28/30|c.3592+5G>T||||||,A|upstream_gene_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000483324|processed_transcript||n.-1G>T|||||3867|,A|downstream_gene_variant|MODIFIER|EFCAB6-AS1|ENSG00000223843|transcript|ENST00000431327|antisense||n.*2396C>A|||||505| 22 43933284 . CCT C . . ANN=|frameshift_variant|HIGH|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|29/32|c.4019_4020delAG|p.Gln1340fs|4274/4869|4019/4506|1340/1501||,|frameshift_variant|HIGH|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|27/30|c.3563_3564delAG|p.Gln1188fs|3829/4424|3563/4050|1188/1349||,|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|32/32|c.4019_4020delAG||||||,|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|29/32|c.4019_4020delAG||||||,|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|31/32|c.4019_4020delAG||||||,|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|30/32|c.4019_4020delAG||||||,|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|30/30|c.3563_3564delAG||||||,|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|27/30|c.3563_3564delAG||||||,|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|29/30|c.3563_3564delAG||||||,|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|28/30|c.3563_3564delAG||||||,|upstream_gene_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000483324|processed_transcript||n.-1_-1delAG|||||3900|,|downstream_gene_variant|MODIFIER|EFCAB6-AS1|ENSG00000223843|transcript|ENST00000431327|antisense||n.*2396_*2396delCT|||||538|,|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|4/7|n.656_657delAG||||||;LOF=(EFCAB6|ENSG00000186976|11|0.18) 22 43933317 . T C . . ANN=C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|29/32|c.3988A>G|p.Lys1330Glu|4242/4869|3988/4506|1330/1501||,C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|27/30|c.3532A>G|p.Lys1178Glu|3797/4424|3532/4050|1178/1349||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|32/32|c.3988A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|29/32|c.3988A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|31/32|c.3988A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|30/32|c.3988A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|30/30|c.3532A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|27/30|c.3532A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|29/30|c.3532A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|28/30|c.3532A>G||||||,C|upstream_gene_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000483324|processed_transcript||n.-1A>G|||||3932|,C|downstream_gene_variant|MODIFIER|EFCAB6-AS1|ENSG00000223843|transcript|ENST00000431327|antisense||n.*2396T>C|||||570|,C|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|4/7|n.625A>G|||||| 22 43933329 . G A . . ANN=A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|29/32|c.3976C>T|p.Arg1326Cys|4230/4869|3976/4506|1326/1501||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|27/30|c.3520C>T|p.Arg1174Cys|3785/4424|3520/4050|1174/1349||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|32/32|c.3976C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|29/32|c.3976C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|31/32|c.3976C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|30/32|c.3976C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|30/30|c.3520C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|27/30|c.3520C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|29/30|c.3520C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|28/30|c.3520C>T||||||,A|upstream_gene_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000483324|processed_transcript||n.-1C>T|||||3944|,A|downstream_gene_variant|MODIFIER|EFCAB6-AS1|ENSG00000223843|transcript|ENST00000431327|antisense||n.*2396G>A|||||582|,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|4/7|n.613C>T|||||| 22 43933352 . C T . . ANN=T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|29/32|c.3953G>A|p.Arg1318Gln|4207/4869|3953/4506|1318/1501||,T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|27/30|c.3497G>A|p.Arg1166Gln|3762/4424|3497/4050|1166/1349||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|32/32|c.3953G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|29/32|c.3953G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|31/32|c.3953G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|30/32|c.3953G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|30/30|c.3497G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|27/30|c.3497G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|29/30|c.3497G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|28/30|c.3497G>A||||||,T|upstream_gene_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000483324|processed_transcript||n.-1G>A|||||3967|,T|downstream_gene_variant|MODIFIER|EFCAB6-AS1|ENSG00000223843|transcript|ENST00000431327|antisense||n.*2396C>T|||||605|,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|4/7|n.590G>A|||||| 22 43933357 . C A . . ANN=A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|29/32|c.3948G>T|p.Arg1316Ser|4202/4869|3948/4506|1316/1501||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|27/30|c.3492G>T|p.Arg1164Ser|3757/4424|3492/4050|1164/1349||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|32/32|c.3948G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|29/32|c.3948G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|31/32|c.3948G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|30/32|c.3948G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|30/30|c.3492G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|27/30|c.3492G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|29/30|c.3492G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|28/30|c.3492G>T||||||,A|upstream_gene_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000483324|processed_transcript||n.-1G>T|||||3972|,A|downstream_gene_variant|MODIFIER|EFCAB6-AS1|ENSG00000223843|transcript|ENST00000431327|antisense||n.*2396C>A|||||610|,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|4/7|n.585G>T|||||| 22 43933408 . G A . . ANN=A|synonymous_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|29/32|c.3897C>T|p.Thr1299Thr|4151/4869|3897/4506|1299/1501||,A|synonymous_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|27/30|c.3441C>T|p.Thr1147Thr|3706/4424|3441/4050|1147/1349||,A|upstream_gene_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000483324|processed_transcript||n.-1C>T|||||4023|,A|downstream_gene_variant|MODIFIER|EFCAB6-AS1|ENSG00000223843|transcript|ENST00000431327|antisense||n.*2396G>A|||||661|,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|4/7|n.534C>T|||||| 22 43933463 . G A . . ANN=A|upstream_gene_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000483324|processed_transcript||n.-1C>T|||||4078|,A|downstream_gene_variant|MODIFIER|EFCAB6-AS1|ENSG00000223843|transcript|ENST00000431327|antisense||n.*2396G>A|||||716|,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|28/31|c.3880-38C>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|3/6|n.517-38C>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|26/29|c.3424-38C>T|||||| 22 43933473 . G A . . ANN=A|upstream_gene_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000483324|processed_transcript||n.-1C>T|||||4088|,A|downstream_gene_variant|MODIFIER|EFCAB6-AS1|ENSG00000223843|transcript|ENST00000431327|antisense||n.*2396G>A|||||726|,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|28/31|c.3880-48C>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|3/6|n.517-48C>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|26/29|c.3424-48C>T|||||| 22 43936074 . G C . . ANN=C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|28/32|c.3812C>G|p.Thr1271Ser|4066/4869|3812/4506|1271/1501||,C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|26/30|c.3356C>G|p.Thr1119Ser|3621/4424|3356/4050|1119/1349||,C|downstream_gene_variant|MODIFIER|EFCAB6-AS1|ENSG00000223843|transcript|ENST00000431327|antisense||n.*2396G>C|||||3327|,C|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|3/7|n.449C>G|||||| 22 43936082 . C T . . ANN=T|synonymous_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|28/32|c.3804G>A|p.Ser1268Ser|4058/4869|3804/4506|1268/1501||,T|synonymous_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|26/30|c.3348G>A|p.Ser1116Ser|3613/4424|3348/4050|1116/1349||,T|downstream_gene_variant|MODIFIER|EFCAB6-AS1|ENSG00000223843|transcript|ENST00000431327|antisense||n.*2396C>T|||||3335|,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|3/7|n.441G>A|||||| 22 43936117 . C T . . ANN=T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|28/32|c.3769G>A|p.Val1257Met|4023/4869|3769/4506|1257/1501||,T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|26/30|c.3313G>A|p.Val1105Met|3578/4424|3313/4050|1105/1349||,T|downstream_gene_variant|MODIFIER|EFCAB6-AS1|ENSG00000223843|transcript|ENST00000431327|antisense||n.*2396C>T|||||3370|,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|3/7|n.406G>A|||||| 22 43936166 . C T . . ANN=T|synonymous_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|28/32|c.3720G>A|p.Arg1240Arg|3974/4869|3720/4506|1240/1501||,T|synonymous_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|26/30|c.3264G>A|p.Arg1088Arg|3529/4424|3264/4050|1088/1349||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_14|ENST00000262726|protein_coding|27/32|c.3720G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_14|ENST00000262726|protein_coding|28/32|c.3720G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|helix|ENST00000262726|protein_coding|28/32|c.3720G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_14|ENST00000396231|protein_coding|25/30|c.3264G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_14|ENST00000396231|protein_coding|26/30|c.3264G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|helix|ENST00000396231|protein_coding|26/30|c.3264G>A||||||,T|downstream_gene_variant|MODIFIER|EFCAB6-AS1|ENSG00000223843|transcript|ENST00000431327|antisense||n.*2396C>T|||||3419|,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|3/7|n.357G>A|||||| 22 43936181 . C T . . ANN=T|synonymous_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|28/32|c.3705G>A|p.Pro1235Pro|3959/4869|3705/4506|1235/1501||,T|synonymous_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|26/30|c.3249G>A|p.Pro1083Pro|3514/4424|3249/4050|1083/1349||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_14|ENST00000262726|protein_coding|27/32|c.3705G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_14|ENST00000262726|protein_coding|28/32|c.3705G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|helix|ENST00000262726|protein_coding|28/32|c.3705G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_14|ENST00000396231|protein_coding|25/30|c.3249G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_14|ENST00000396231|protein_coding|26/30|c.3249G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|helix|ENST00000396231|protein_coding|26/30|c.3249G>A||||||,T|downstream_gene_variant|MODIFIER|EFCAB6-AS1|ENSG00000223843|transcript|ENST00000431327|antisense||n.*2396C>T|||||3434|,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|3/7|n.342G>A|||||| 22 43936207 . T A . . ANN=A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|28/32|c.3679A>T|p.Asn1227Tyr|3933/4869|3679/4506|1227/1501||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|26/30|c.3223A>T|p.Asn1075Tyr|3488/4424|3223/4050|1075/1349||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_14|ENST00000262726|protein_coding|27/32|c.3679A>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_14|ENST00000262726|protein_coding|28/32|c.3679A>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_14|ENST00000396231|protein_coding|25/30|c.3223A>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_14|ENST00000396231|protein_coding|26/30|c.3223A>T||||||,A|downstream_gene_variant|MODIFIER|EFCAB6-AS1|ENSG00000223843|transcript|ENST00000431327|antisense||n.*2396T>A|||||3460|,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|3/7|n.316A>T|||||| 22 43936219 . C T . . ANN=T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|28/32|c.3667G>A|p.Glu1223Lys|3921/4869|3667/4506|1223/1501||,T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|26/30|c.3211G>A|p.Glu1071Lys|3476/4424|3211/4050|1071/1349||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_14|ENST00000262726|protein_coding|27/32|c.3667G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_14|ENST00000262726|protein_coding|28/32|c.3667G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_14|ENST00000396231|protein_coding|25/30|c.3211G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_14|ENST00000396231|protein_coding|26/30|c.3211G>A||||||,T|downstream_gene_variant|MODIFIER|EFCAB6-AS1|ENSG00000223843|transcript|ENST00000431327|antisense||n.*2396C>T|||||3472|,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|3/7|n.304G>A|||||| 22 43950728 . G C . . ANN=C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_14|ENST00000262726|protein_coding|27/32|c.3648+21C>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_14|ENST00000262726|protein_coding|28/32|c.3648+21C>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|helix|ENST00000262726|protein_coding|27/32|c.3648+21C>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|helix|ENST00000262726|protein_coding|28/32|c.3648+21C>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_14|ENST00000396231|protein_coding|25/30|c.3192+21C>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_14|ENST00000396231|protein_coding|26/30|c.3192+21C>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|helix|ENST00000396231|protein_coding|25/30|c.3192+21C>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|helix|ENST00000396231|protein_coding|26/30|c.3192+21C>G||||||,C|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|27/31|c.3648+21C>G||||||,C|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|2/6|n.285+21C>G||||||,C|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|25/29|c.3192+21C>G||||||,C|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|13/13|n.2118C>G|||||| 22 43950774 . C T . . ANN=T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|27/32|c.3623G>A|p.Arg1208His|3877/4869|3623/4506|1208/1501||,T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|25/30|c.3167G>A|p.Arg1056His|3432/4424|3167/4050|1056/1349||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_13|ENST00000262726|protein_coding|27/32|c.3623G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|helix|ENST00000262726|protein_coding|27/32|c.3623G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_13|ENST00000396231|protein_coding|25/30|c.3167G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|helix|ENST00000396231|protein_coding|25/30|c.3167G>A||||||,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|2/7|n.260G>A||||||,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|13/13|n.2072G>A|||||| 22 43950800 . C T . . ANN=T|synonymous_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|27/32|c.3597G>A|p.Glu1199Glu|3851/4869|3597/4506|1199/1501||,T|synonymous_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|25/30|c.3141G>A|p.Glu1047Glu|3406/4424|3141/4050|1047/1349||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_13|ENST00000262726|protein_coding|27/32|c.3597G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|helix|ENST00000262726|protein_coding|27/32|c.3597G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_13|ENST00000396231|protein_coding|25/30|c.3141G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|helix|ENST00000396231|protein_coding|25/30|c.3141G>A||||||,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|2/7|n.234G>A||||||,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|13/13|n.2046G>A|||||| 22 43950819 . G A . . ANN=A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|27/32|c.3578C>T|p.Thr1193Met|3832/4869|3578/4506|1193/1501||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|25/30|c.3122C>T|p.Thr1041Met|3387/4424|3122/4050|1041/1349||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_13|ENST00000262726|protein_coding|27/32|c.3578C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_13|ENST00000396231|protein_coding|25/30|c.3122C>T||||||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|2/7|n.215C>T||||||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|13/13|n.2027C>T|||||| 22 43950826 . T C . . ANN=C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|27/32|c.3571A>G|p.Met1191Val|3825/4869|3571/4506|1191/1501||,C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|25/30|c.3115A>G|p.Met1039Val|3380/4424|3115/4050|1039/1349||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_13|ENST00000262726|protein_coding|27/32|c.3571A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_13|ENST00000396231|protein_coding|25/30|c.3115A>G||||||,C|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|2/7|n.208A>G||||||,C|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|13/13|n.2020A>G|||||| 22 43950853 . T G . . ANN=G|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|27/32|c.3544A>C|p.Thr1182Pro|3798/4869|3544/4506|1182/1501||,G|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|25/30|c.3088A>C|p.Thr1030Pro|3353/4424|3088/4050|1030/1349||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_13|ENST00000262726|protein_coding|27/32|c.3544A>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|helix|ENST00000262726|protein_coding|27/32|c.3544A>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_13|ENST00000396231|protein_coding|25/30|c.3088A>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|helix|ENST00000396231|protein_coding|25/30|c.3088A>C||||||,G|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|2/7|n.181A>C||||||,G|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|13/13|n.1993A>C|||||| 22 43950891 . C T . . ANN=T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|27/32|c.3506G>A|p.Arg1169His|3760/4869|3506/4506|1169/1501||,T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|25/30|c.3050G>A|p.Arg1017His|3315/4424|3050/4050|1017/1349||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|helix|ENST00000262726|protein_coding|27/32|c.3506G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|helix|ENST00000396231|protein_coding|25/30|c.3050G>A||||||,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|2/7|n.143G>A||||||,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|13/13|n.1955G>A|||||| 22 43950935 . C T . . ANN=T|synonymous_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|27/32|c.3462G>A|p.Pro1154Pro|3716/4869|3462/4506|1154/1501||,T|synonymous_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|25/30|c.3006G>A|p.Pro1002Pro|3271/4424|3006/4050|1002/1349||,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|2/7|n.99G>A||||||,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|13/13|n.1911G>A|||||| 22 43950936 . G A . . ANN=A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|27/32|c.3461C>T|p.Pro1154Leu|3715/4869|3461/4506|1154/1501||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|25/30|c.3005C>T|p.Pro1002Leu|3270/4424|3005/4050|1002/1349||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|2/7|n.98C>T||||||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|13/13|n.1910C>T|||||| 22 43950949 . G A . . ANN=A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|27/32|c.3448C>T|p.Pro1150Ser|3702/4869|3448/4506|1150/1501||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|25/30|c.2992C>T|p.Pro998Ser|3257/4424|2992/4050|998/1349||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|2/7|n.85C>T||||||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|13/13|n.1897C>T|||||| 22 43951008 . T A . . ANN=A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|26/31|c.3421-32A>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|1/6|n.58-32A>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|24/29|c.2965-32A>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|12/12|n.1870-32A>T|||||| 22 43972255 . C G . . ANN=G|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|26/32|c.3342G>C|p.Leu1114Phe|3596/4869|3342/4506|1114/1501||,G|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|24/30|c.2886G>C|p.Leu962Phe|3151/4424|2886/4050|962/1349||,G|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|12/13|n.1791G>C|||||| 22 43972363 . A C . . ANN=C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|26/32|c.3234T>G|p.Phe1078Leu|3488/4869|3234/4506|1078/1501||,C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|24/30|c.2778T>G|p.Phe926Leu|3043/4424|2778/4050|926/1349||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_12|ENST00000262726|protein_coding|26/32|c.3234T>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_12|ENST00000262726|protein_coding|25/32|c.3234T>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_12|ENST00000396231|protein_coding|24/30|c.2778T>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_12|ENST00000396231|protein_coding|23/30|c.2778T>G||||||,C|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|12/13|n.1683T>G|||||| 22 43972393 . G A . . ANN=A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_12|ENST00000262726|protein_coding|26/32|c.3229-25C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_12|ENST00000262726|protein_coding|25/32|c.3229-25C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_12|ENST00000396231|protein_coding|24/30|c.2773-25C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_12|ENST00000396231|protein_coding|23/30|c.2773-25C>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|25/31|c.3229-25C>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|23/29|c.2773-25C>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|11/12|n.1678-25C>T|||||| 22 43976307 . T C . . ANN=C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_12|ENST00000262726|protein_coding|26/32|c.3228+37A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_12|ENST00000262726|protein_coding|25/32|c.3228+37A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_12|ENST00000396231|protein_coding|24/30|c.2772+37A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_12|ENST00000396231|protein_coding|23/30|c.2772+37A>G||||||,C|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|25/31|c.3228+37A>G||||||,C|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|23/29|c.2772+37A>G||||||,C|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|11/12|n.1677+37A>G|||||| 22 43976359 . C A . . ANN=A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|25/32|c.3213G>T|p.Gln1071His|3467/4869|3213/4506|1071/1501||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|23/30|c.2757G>T|p.Gln919His|3022/4424|2757/4050|919/1349||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_12|ENST00000262726|protein_coding|26/32|c.3213G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_12|ENST00000262726|protein_coding|25/32|c.3213G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_12|ENST00000396231|protein_coding|24/30|c.2757G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_12|ENST00000396231|protein_coding|23/30|c.2757G>T||||||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|11/13|n.1662G>T|||||| 22 43976396 . G A . . ANN=A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|25/32|c.3176C>T|p.Ala1059Val|3430/4869|3176/4506|1059/1501||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|23/30|c.2720C>T|p.Ala907Val|2985/4424|2720/4050|907/1349||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|11/13|n.1625C>T|||||| 22 43976414 . G A . . ANN=A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|25/32|c.3158C>T|p.Thr1053Met|3412/4869|3158/4506|1053/1501||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|23/30|c.2702C>T|p.Thr901Met|2967/4424|2702/4050|901/1349||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|11/13|n.1607C>T|||||| 22 43976423 . T C . . ANN=C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|25/32|c.3149A>G|p.Asn1050Ser|3403/4869|3149/4506|1050/1501||,C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|23/30|c.2693A>G|p.Asn898Ser|2958/4424|2693/4050|898/1349||,C|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|11/13|n.1598A>G|||||| 22 43985907 . T G . . ANN=G|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|24/31|c.3032+47A>C||||||,G|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|22/29|c.2576+47A>C||||||,G|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|10/12|n.1481+47A>C|||||| 22 43985929 . CAT C . . ANN=|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|24/31|c.3032+23_3032+24delAT||||||,|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|22/29|c.2576+23_2576+24delAT||||||,|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|10/12|n.1481+23_1481+24delAT|||||| 22 43986125 . T C . . ANN=C|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|23/31|c.2877-16A>G||||||,C|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|21/29|c.2421-16A>G||||||,C|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|9/12|n.1326-16A>G|||||| 22 43986134 . T C . . ANN=C|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|23/31|c.2877-25A>G||||||,C|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|21/29|c.2421-25A>G||||||,C|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|9/12|n.1326-25A>G|||||| 22 43986141 . A G . . ANN=G|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|23/31|c.2877-32T>C||||||,G|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|21/29|c.2421-32T>C||||||,G|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|9/12|n.1326-32T>C|||||| 22 43986153 . CAAAT C . . ANN=|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|23/31|c.2877-48_2877-45delATTT||||||,|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|21/29|c.2421-48_2421-45delATTT||||||,|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|9/12|n.1326-48_1326-45delATTT|||||| 22 43995970 . G A . . ANN=A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|23/32|c.2855C>T|p.Thr952Ile|3109/4869|2855/4506|952/1501||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|21/30|c.2399C>T|p.Thr800Ile|2664/4424|2399/4050|800/1349||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|9/13|n.1304C>T|||||| 22 43996082 . T C . . ANN=C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|23/32|c.2743A>G|p.Asn915Asp|2997/4869|2743/4506|915/1501||,C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|21/30|c.2287A>G|p.Asn763Asp|2552/4424|2287/4050|763/1349||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_10|ENST00000262726|protein_coding|22/32|c.2743A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_10|ENST00000262726|protein_coding|23/32|c.2743A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_10|ENST00000396231|protein_coding|20/30|c.2287A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_10|ENST00000396231|protein_coding|21/30|c.2287A>G||||||,C|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|9/13|n.1192A>G|||||| 22 44004350 . C T . . ANN=T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_10|ENST00000262726|protein_coding|22/32|c.2681+12G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_10|ENST00000262726|protein_coding|23/32|c.2681+12G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_10|ENST00000396231|protein_coding|20/30|c.2225+12G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_10|ENST00000396231|protein_coding|21/30|c.2225+12G>A||||||,T|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|22/31|c.2681+12G>A||||||,T|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|20/29|c.2225+12G>A||||||,T|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|8/12|n.1130+12G>A|||||| 22 44004351 . G A . . ANN=A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_10|ENST00000262726|protein_coding|22/32|c.2681+11C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_10|ENST00000262726|protein_coding|23/32|c.2681+11C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_10|ENST00000396231|protein_coding|20/30|c.2225+11C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_10|ENST00000396231|protein_coding|21/30|c.2225+11C>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|22/31|c.2681+11C>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|20/29|c.2225+11C>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|8/12|n.1130+11C>T|||||| 22 44004465 . C T . . ANN=T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|22/32|c.2578G>A|p.Asp860Asn|2832/4869|2578/4506|860/1501||,T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|20/30|c.2122G>A|p.Asp708Asn|2387/4424|2122/4050|708/1349||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_9|ENST00000262726|protein_coding|22/32|c.2578G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_9|ENST00000262726|protein_coding|21/32|c.2578G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_9|ENST00000396231|protein_coding|20/30|c.2122G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_9|ENST00000396231|protein_coding|19/30|c.2122G>A||||||,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|8/13|n.1027G>A|||||| 22 44004498 . G A . . ANN=A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_9|ENST00000262726|protein_coding|22/32|c.2563-18C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_9|ENST00000262726|protein_coding|21/32|c.2563-18C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_9|ENST00000396231|protein_coding|20/30|c.2107-18C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_9|ENST00000396231|protein_coding|19/30|c.2107-18C>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|21/31|c.2563-18C>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|19/29|c.2107-18C>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|7/12|n.1012-18C>T|||||| 22 44004513 . G A . . ANN=A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_9|ENST00000262726|protein_coding|22/32|c.2563-33C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_9|ENST00000262726|protein_coding|21/32|c.2563-33C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_9|ENST00000396231|protein_coding|20/30|c.2107-33C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_9|ENST00000396231|protein_coding|19/30|c.2107-33C>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|21/31|c.2563-33C>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|19/29|c.2107-33C>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|7/12|n.1012-33C>T|||||| 22 44022331 . T G . . ANN=G|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|20/32|c.2461A>C|p.Ile821Leu|2715/4869|2461/4506|821/1501||,G|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|18/30|c.2005A>C|p.Ile669Leu|2270/4424|2005/4050|669/1349||,G|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|7/13|n.1007A>C|||||| 22 44022344 . C T . . ANN=T|synonymous_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|20/32|c.2448G>A|p.Ala816Ala|2702/4869|2448/4506|816/1501||,T|synonymous_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|18/30|c.1992G>A|p.Ala664Ala|2257/4424|1992/4050|664/1349||,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|7/13|n.994G>A|||||| 22 44022345 . G A . . ANN=A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|20/32|c.2447C>T|p.Ala816Val|2701/4869|2447/4506|816/1501||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|18/30|c.1991C>T|p.Ala664Val|2256/4424|1991/4050|664/1349||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|7/13|n.993C>T|||||| 22 44022394 . G A . . ANN=A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|20/32|c.2398C>T|p.Arg800Trp|2652/4869|2398/4506|800/1501||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|18/30|c.1942C>T|p.Arg648Trp|2207/4424|1942/4050|648/1349||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|7/13|n.944C>T|||||| 22 44022418 . T C . . ANN=C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|20/32|c.2374A>G|p.Arg792Gly|2628/4869|2374/4506|792/1501||,C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|18/30|c.1918A>G|p.Arg640Gly|2183/4424|1918/4050|640/1349||,C|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|7/13|n.920A>G|||||| 22 44022441 . C T . . ANN=T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|20/32|c.2351G>A|p.Arg784His|2605/4869|2351/4506|784/1501||,T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|18/30|c.1895G>A|p.Arg632His|2160/4424|1895/4050|632/1349||,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|7/13|n.897G>A|||||| 22 44022454 . C T . . ANN=T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|20/32|c.2338G>A|p.Asp780Asn|2592/4869|2338/4506|780/1501||,T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|18/30|c.1882G>A|p.Asp628Asn|2147/4424|1882/4050|628/1349||,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|7/13|n.884G>A|||||| 22 44022466 . T A . . ANN=A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|20/32|c.2326A>T|p.Asn776Tyr|2580/4869|2326/4506|776/1501||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|18/30|c.1870A>T|p.Asn624Tyr|2135/4424|1870/4050|624/1349||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_8|ENST00000262726|protein_coding|19/32|c.2326A>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_8|ENST00000262726|protein_coding|20/32|c.2326A>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_8|ENST00000396231|protein_coding|17/30|c.1870A>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_8|ENST00000396231|protein_coding|18/30|c.1870A>T||||||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|7/13|n.872A>T|||||| 22 44022493 . G A . . ANN=A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|20/32|c.2299C>T|p.His767Tyr|2553/4869|2299/4506|767/1501||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|18/30|c.1843C>T|p.His615Tyr|2108/4424|1843/4050|615/1349||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_8|ENST00000262726|protein_coding|19/32|c.2299C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_8|ENST00000262726|protein_coding|20/32|c.2299C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_8|ENST00000396231|protein_coding|17/30|c.1843C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_8|ENST00000396231|protein_coding|18/30|c.1843C>T||||||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|7/13|n.845C>T|||||| 22 44022578 . C A . . ANN=A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_8|ENST00000262726|protein_coding|19/32|c.2233-19G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_8|ENST00000262726|protein_coding|20/32|c.2233-19G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_8|ENST00000396231|protein_coding|17/30|c.1777-19G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_8|ENST00000396231|protein_coding|18/30|c.1777-19G>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|19/31|c.2233-19G>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|17/29|c.1777-19G>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|6/12|n.779-19G>T|||||| 22 44022601 . C T . . ANN=T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_8|ENST00000262726|protein_coding|19/32|c.2233-42G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_8|ENST00000262726|protein_coding|20/32|c.2233-42G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_8|ENST00000396231|protein_coding|17/30|c.1777-42G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_8|ENST00000396231|protein_coding|18/30|c.1777-42G>A||||||,T|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|19/31|c.2233-42G>A||||||,T|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|17/29|c.1777-42G>A||||||,T|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|6/12|n.779-42G>A|||||| 22 44027964 . C A,T . . ANN=A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_8|ENST00000262726|protein_coding|19/32|c.2232+21G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_8|ENST00000262726|protein_coding|20/32|c.2232+21G>T||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_8|ENST00000262726|protein_coding|19/32|c.2232+21G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_8|ENST00000262726|protein_coding|20/32|c.2232+21G>A||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_8|ENST00000396231|protein_coding|17/30|c.1776+21G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_8|ENST00000396231|protein_coding|18/30|c.1776+21G>T||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_8|ENST00000396231|protein_coding|17/30|c.1776+21G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_8|ENST00000396231|protein_coding|18/30|c.1776+21G>A||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|19/31|c.2232+21G>T||||||,T|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|19/31|c.2232+21G>A||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|17/29|c.1776+21G>T||||||,T|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|17/29|c.1776+21G>A||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|6/12|n.778+21G>T||||||,T|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|6/12|n.778+21G>A|||||| 22 44027965 . G A . . ANN=A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_8|ENST00000262726|protein_coding|19/32|c.2232+20C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_8|ENST00000262726|protein_coding|20/32|c.2232+20C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_8|ENST00000396231|protein_coding|17/30|c.1776+20C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_8|ENST00000396231|protein_coding|18/30|c.1776+20C>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|19/31|c.2232+20C>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|17/29|c.1776+20C>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|6/12|n.778+20C>T|||||| 22 44028078 . A G . . ANN=G|synonymous_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|19/32|c.2139T>C|p.Pro713Pro|2393/4869|2139/4506|713/1501||,G|synonymous_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|17/30|c.1683T>C|p.Pro561Pro|1948/4424|1683/4050|561/1349||,G|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|6/13|n.685T>C|||||| 22 44028085 . G A . . ANN=A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|19/32|c.2132C>T|p.Pro711Leu|2386/4869|2132/4506|711/1501||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|17/30|c.1676C>T|p.Pro559Leu|1941/4424|1676/4050|559/1349||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|6/13|n.678C>T|||||| 22 44028087 . C T . . ANN=T|synonymous_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|19/32|c.2130G>A|p.Pro710Pro|2384/4869|2130/4506|710/1501||,T|synonymous_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|17/30|c.1674G>A|p.Pro558Pro|1939/4424|1674/4050|558/1349||,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|6/13|n.676G>A|||||| 22 44028100 . G A . . ANN=A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|19/32|c.2117C>T|p.Pro706Leu|2371/4869|2117/4506|706/1501||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|17/30|c.1661C>T|p.Pro554Leu|1926/4424|1661/4050|554/1349||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|6/13|n.663C>T|||||| 22 44028139 . G A . . ANN=A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|18/31|c.2099-21C>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|16/29|c.1643-21C>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|5/12|n.645-21C>T|||||| 22 44030935 . G A . . ANN=A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|18/31|c.2098+47C>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|16/29|c.1642+47C>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|5/12|n.644+47C>T|||||| 22 44030959 . G A . . ANN=A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|18/31|c.2098+23C>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|16/29|c.1642+23C>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|5/12|n.644+23C>T|||||| 22 44030977 . G C . . ANN=C|splice_region_variant&intron_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|18/31|c.2098+5C>G||||||,C|splice_region_variant&intron_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|16/29|c.1642+5C>G||||||,C|splice_region_variant&intron_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|5/12|n.644+5C>G|||||| 22 44030978 . C G . . ANN=G|splice_region_variant&intron_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|18/31|c.2098+4G>C||||||,G|splice_region_variant&intron_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|16/29|c.1642+4G>C||||||,G|splice_region_variant&intron_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|5/12|n.644+4G>C|||||| 22 44031027 . C T . . ANN=T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|18/32|c.2053G>A|p.Glu685Lys|2307/4869|2053/4506|685/1501||,T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|16/30|c.1597G>A|p.Glu533Lys|1862/4424|1597/4050|533/1349||,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|5/13|n.599G>A|||||| 22 44031042 . T C . . ANN=C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|18/32|c.2038A>G|p.Thr680Ala|2292/4869|2038/4506|680/1501||,C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|16/30|c.1582A>G|p.Thr528Ala|1847/4424|1582/4050|528/1349||,C|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|5/13|n.584A>G|||||| 22 44031070 . C T . . ANN=T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|18/32|c.2010G>A|p.Met670Ile|2264/4869|2010/4506|670/1501||,T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|16/30|c.1554G>A|p.Met518Ile|1819/4424|1554/4050|518/1349||,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|5/13|n.556G>A|||||| 22 44031075 . G A . . ANN=A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|18/32|c.2005C>T|p.Pro669Ser|2259/4869|2005/4506|669/1501||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|16/30|c.1549C>T|p.Pro517Ser|1814/4424|1549/4050|517/1349||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000262726|protein_coding|17/32|c.2005C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000262726|protein_coding|18/32|c.2005C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000396231|protein_coding|15/30|c.1549C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000396231|protein_coding|16/30|c.1549C>T||||||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|5/13|n.551C>T|||||| 22 44031101 . C G . . ANN=G|splice_region_variant&intron_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|17/31|c.1984-5G>C||||||,G|splice_region_variant&intron_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|15/29|c.1528-5G>C||||||,G|splice_region_variant&intron_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|4/12|n.530-5G>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000262726|protein_coding|17/32|c.1984-5G>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000262726|protein_coding|18/32|c.1984-5G>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000396231|protein_coding|15/30|c.1528-5G>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000396231|protein_coding|16/30|c.1528-5G>C|||||| 22 44031110 . CAG C . . ANN=|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000262726|protein_coding|17/32|c.1984-16_1984-15delCT||||||,|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000262726|protein_coding|18/32|c.1984-16_1984-15delCT||||||,|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000396231|protein_coding|15/30|c.1528-16_1528-15delCT||||||,|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000396231|protein_coding|16/30|c.1528-16_1528-15delCT||||||,|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|17/31|c.1984-16_1984-15delCT||||||,|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|15/29|c.1528-16_1528-15delCT||||||,|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|4/12|n.530-16_530-15delCT|||||| 22 44031114 . G A . . ANN=A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000262726|protein_coding|17/32|c.1984-18C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000262726|protein_coding|18/32|c.1984-18C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000396231|protein_coding|15/30|c.1528-18C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000396231|protein_coding|16/30|c.1528-18C>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|17/31|c.1984-18C>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|15/29|c.1528-18C>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|4/12|n.530-18C>T|||||| 22 44031128 . C A,T . . ANN=A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000262726|protein_coding|17/32|c.1984-32G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000262726|protein_coding|18/32|c.1984-32G>T||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000262726|protein_coding|17/32|c.1984-32G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000262726|protein_coding|18/32|c.1984-32G>A||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000396231|protein_coding|15/30|c.1528-32G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000396231|protein_coding|16/30|c.1528-32G>T||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000396231|protein_coding|15/30|c.1528-32G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000396231|protein_coding|16/30|c.1528-32G>A||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|17/31|c.1984-32G>T||||||,T|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|17/31|c.1984-32G>A||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|15/29|c.1528-32G>T||||||,T|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|15/29|c.1528-32G>A||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|4/12|n.530-32G>T||||||,T|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|4/12|n.530-32G>A|||||| 22 44031140 . C T . . ANN=T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000262726|protein_coding|17/32|c.1984-44G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000262726|protein_coding|18/32|c.1984-44G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000396231|protein_coding|15/30|c.1528-44G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000396231|protein_coding|16/30|c.1528-44G>A||||||,T|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|17/31|c.1984-44G>A||||||,T|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|15/29|c.1528-44G>A||||||,T|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|4/12|n.530-44G>A|||||| 22 44031142 . C T . . ANN=T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000262726|protein_coding|17/32|c.1984-46G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000262726|protein_coding|18/32|c.1984-46G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000396231|protein_coding|15/30|c.1528-46G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000396231|protein_coding|16/30|c.1528-46G>A||||||,T|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|17/31|c.1984-46G>A||||||,T|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|15/29|c.1528-46G>A||||||,T|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|4/12|n.530-46G>A|||||| 22 44031143 . G A . . ANN=A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000262726|protein_coding|17/32|c.1984-47C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000262726|protein_coding|18/32|c.1984-47C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000396231|protein_coding|15/30|c.1528-47C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000396231|protein_coding|16/30|c.1528-47C>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|17/31|c.1984-47C>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|15/29|c.1528-47C>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|4/12|n.530-47C>T|||||| 22 44062938 . G A . . ANN=A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000262726|protein_coding|17/32|c.1983+46C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000262726|protein_coding|18/32|c.1983+46C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000396231|protein_coding|15/30|c.1527+46C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000396231|protein_coding|16/30|c.1527+46C>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|17/31|c.1983+46C>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|15/29|c.1527+46C>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|4/12|n.529+46C>T|||||| 22 44063048 . T C . . ANN=C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|17/32|c.1919A>G|p.Lys640Arg|2173/4869|1919/4506|640/1501||,C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|15/30|c.1463A>G|p.Lys488Arg|1728/4424|1463/4050|488/1349||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000262726|protein_coding|17/32|c.1919A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000262726|protein_coding|18/32|c.1919A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000396231|protein_coding|15/30|c.1463A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000396231|protein_coding|16/30|c.1463A>G||||||,C|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|4/13|n.465A>G|||||| 22 44063052 . A G . . ANN=G|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|17/32|c.1915T>C|p.Phe639Leu|2169/4869|1915/4506|639/1501||,G|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|15/30|c.1459T>C|p.Phe487Leu|1724/4424|1459/4050|487/1349||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000262726|protein_coding|17/32|c.1915T>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000262726|protein_coding|18/32|c.1915T>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000396231|protein_coding|15/30|c.1459T>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000396231|protein_coding|16/30|c.1459T>C||||||,G|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|4/13|n.461T>C|||||| 22 44063179 . C T . . ANN=T|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|16/31|c.1815-27G>A||||||,T|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|14/29|c.1359-27G>A||||||,T|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|3/12|n.361-27G>A|||||| 22 44064909 . G C . . ANN=C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|16/32|c.1657C>G|p.Gln553Glu|1911/4869|1657/4506|553/1501||,C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|14/30|c.1201C>G|p.Gln401Glu|1466/4424|1201/4050|401/1349||,C|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|3/13|n.203C>G|||||| 22 44064973 . C T . . ANN=T|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|15/31|c.1641-48G>A||||||,T|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|13/29|c.1185-48G>A||||||,T|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|2/12|n.187-48G>A|||||| 22 44067871 . G A . . ANN=A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|15/32|c.1622C>T|p.Thr541Met|1876/4869|1622/4506|541/1501||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|13/30|c.1166C>T|p.Thr389Met|1431/4424|1166/4050|389/1349||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|2/13|n.168C>T|||||| 22 44068081 . A G . . ANN=G|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|14/31|c.1479+45T>C||||||,G|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|12/29|c.1023+45T>C||||||,G|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|1/12|n.25+45T>C|||||| 22 44068193 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|13/31|c.1420-8C>T||||||,A|splice_region_variant&intron_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|11/29|c.964-8C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_5|ENST00000262726|protein_coding|14/32|c.1420-8C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_5|ENST00000262726|protein_coding|13/32|c.1420-8C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_5|ENST00000396231|protein_coding|12/30|c.964-8C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_5|ENST00000396231|protein_coding|11/30|c.964-8C>T||||||,A|upstream_gene_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron||n.-1C>T|||||43| 22 44068194 . G T . . ANN=T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_5|ENST00000262726|protein_coding|14/32|c.1420-9C>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_5|ENST00000262726|protein_coding|13/32|c.1420-9C>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_5|ENST00000396231|protein_coding|12/30|c.964-9C>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_5|ENST00000396231|protein_coding|11/30|c.964-9C>A||||||,T|upstream_gene_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron||n.-1C>A|||||44|,T|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|13/31|c.1420-9C>A||||||,T|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|11/29|c.964-9C>A|||||| 22 44068226 . T C . . ANN=C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_5|ENST00000262726|protein_coding|14/32|c.1420-41A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_5|ENST00000262726|protein_coding|13/32|c.1420-41A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_5|ENST00000396231|protein_coding|12/30|c.964-41A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_5|ENST00000396231|protein_coding|11/30|c.964-41A>G||||||,C|upstream_gene_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron||n.-1A>G|||||76|,C|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|13/31|c.1420-41A>G||||||,C|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|11/29|c.964-41A>G|||||| 22 44073983 . T C . . ANN=C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|13/32|c.1312A>G|p.Lys438Glu|1566/4869|1312/4506|438/1501||,C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|11/30|c.856A>G|p.Lys286Glu|1121/4424|856/4050|286/1349||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_4|ENST00000262726|protein_coding|12/32|c.1312A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_4|ENST00000262726|protein_coding|13/32|c.1312A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_4|ENST00000396231|protein_coding|10/30|c.856A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_4|ENST00000396231|protein_coding|11/30|c.856A>G||||||,C|3_prime_UTR_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|9/9|c.*42A>G|||||42| 22 44074021 . C A . . ANN=A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|13/32|c.1274G>T|p.Arg425Ile|1528/4869|1274/4506|425/1501||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|11/30|c.818G>T|p.Arg273Ile|1083/4424|818/4050|273/1349||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_4|ENST00000262726|protein_coding|12/32|c.1274G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_4|ENST00000262726|protein_coding|13/32|c.1274G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_4|ENST00000396231|protein_coding|10/30|c.818G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_4|ENST00000396231|protein_coding|11/30|c.818G>T||||||,A|3_prime_UTR_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|9/9|c.*4G>T|||||4| 22 44074059 . T C . . ANN=C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_4|ENST00000262726|protein_coding|12/32|c.1252-16A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_4|ENST00000262726|protein_coding|13/32|c.1252-16A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_4|ENST00000396231|protein_coding|10/30|c.796-16A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_4|ENST00000396231|protein_coding|11/30|c.796-16A>G||||||,C|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|12/31|c.1252-16A>G||||||,C|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|10/29|c.796-16A>G||||||,C|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|8/8|c.714-16A>G|||||| 22 44074063 . T C . . ANN=C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_4|ENST00000262726|protein_coding|12/32|c.1252-20A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_4|ENST00000262726|protein_coding|13/32|c.1252-20A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_4|ENST00000396231|protein_coding|10/30|c.796-20A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_4|ENST00000396231|protein_coding|11/30|c.796-20A>G||||||,C|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|12/31|c.1252-20A>G||||||,C|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|10/29|c.796-20A>G||||||,C|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|8/8|c.714-20A>G|||||| 22 44074076 . GA G,GAA . . ANN=|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_4|ENST00000262726|protein_coding|12/32|c.1252-34delT||||||,|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_4|ENST00000262726|protein_coding|13/32|c.1252-34delT||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_4|ENST00000262726|protein_coding|12/32|c.1252-35dupT||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_4|ENST00000262726|protein_coding|13/32|c.1252-35dupT||||||,|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_4|ENST00000396231|protein_coding|10/30|c.796-34delT||||||,|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_4|ENST00000396231|protein_coding|11/30|c.796-34delT||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_4|ENST00000396231|protein_coding|10/30|c.796-35dupT||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_4|ENST00000396231|protein_coding|11/30|c.796-35dupT||||||,|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|12/31|c.1252-34delT||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|12/31|c.1252-35dupT||||||,|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|10/29|c.796-34delT||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|10/29|c.796-35dupT||||||,|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|8/8|c.714-34delT||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|8/8|c.714-35dupT|||||| 22 44079645 . T C . . ANN=C|synonymous_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|12/32|c.1233A>G|p.Ala411Ala|1487/4869|1233/4506|411/1501||,C|synonymous_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|10/30|c.777A>G|p.Ala259Ala|1042/4424|777/4050|259/1349||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_4|ENST00000262726|protein_coding|12/32|c.1233A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_4|ENST00000262726|protein_coding|13/32|c.1233A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_4|ENST00000396231|protein_coding|10/30|c.777A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_4|ENST00000396231|protein_coding|11/30|c.777A>G||||||,C|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|8/8|c.714-5602A>G||||||,C|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|12/12|n.1547A>G|||||| 22 44079660 . C T . . ANN=T|synonymous_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|12/32|c.1218G>A|p.Ala406Ala|1472/4869|1218/4506|406/1501||,T|synonymous_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|10/30|c.762G>A|p.Ala254Ala|1027/4424|762/4050|254/1349||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_4|ENST00000262726|protein_coding|12/32|c.1218G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_4|ENST00000262726|protein_coding|13/32|c.1218G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_4|ENST00000396231|protein_coding|10/30|c.762G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_4|ENST00000396231|protein_coding|11/30|c.762G>A||||||,T|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|8/8|c.714-5617G>A||||||,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|12/12|n.1532G>A|||||| 22 44079680 . G A . . ANN=A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|12/32|c.1198C>T|p.His400Tyr|1452/4869|1198/4506|400/1501||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|10/30|c.742C>T|p.His248Tyr|1007/4424|742/4050|248/1349||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|8/8|c.714-5637C>T||||||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|12/12|n.1512C>T|||||| 22 44079728 . A C . . ANN=C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|12/32|c.1150T>G|p.Ser384Ala|1404/4869|1150/4506|384/1501||,C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|10/30|c.694T>G|p.Ser232Ala|959/4424|694/4050|232/1349||,C|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|8/8|c.714-5685T>G||||||,C|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|12/12|n.1464T>G|||||| 22 44083327 . G GT,GTT . . ANN=T|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|11/31|c.1142+23dupA||||||,TT|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|11/31|c.1142+22_1142+23dupAA||||||,T|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|9/29|c.686+23dupA||||||,TT|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|9/29|c.686+22_686+23dupAA||||||,T|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|8/8|c.714-9285dupA||||||,TT|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|8/8|c.714-9286_714-9285dupAA||||||,T|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|11/11|n.1456+23dupA||||||,TT|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|11/11|n.1456+22_1456+23dupAA|||||| 22 44083330 . T TG . . ANN=G|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|11/31|c.1142+20_1142+21insC||||||,G|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|9/29|c.686+20_686+21insC||||||,G|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|8/8|c.714-9288_714-9287insC||||||,G|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|11/11|n.1456+20_1456+21insC|||||| 22 44083332 . T TTG . . ANN=TG|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|11/31|c.1142+18_1142+19insCA||||||,TG|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|9/29|c.686+18_686+19insCA||||||,TG|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|8/8|c.714-9290_714-9289insCA||||||,TG|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|11/11|n.1456+18_1456+19insCA|||||| 22 44083333 . T TG . . ANN=G|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|11/31|c.1142+17_1142+18insC||||||,G|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|9/29|c.686+17_686+18insC||||||,G|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|8/8|c.714-9291_714-9290insC||||||,G|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|11/11|n.1456+17_1456+18insC|||||| 22 44083368 . G T . . ANN=T|synonymous_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|11/32|c.1125C>A|p.Pro375Pro|1379/4869|1125/4506|375/1501||,T|synonymous_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|9/30|c.669C>A|p.Pro223Pro|934/4424|669/4050|223/1349||,T|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|8/8|c.714-9325C>A||||||,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|11/12|n.1439C>A|||||| 22 44083418 . G A . . ANN=A|synonymous_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|11/32|c.1075C>T|p.Leu359Leu|1329/4869|1075/4506|359/1501||,A|synonymous_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|9/30|c.619C>T|p.Leu207Leu|884/4424|619/4050|207/1349||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|8/8|c.714-9375C>T||||||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|11/12|n.1389C>T|||||| 22 44083442 . T C . . ANN=C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|11/32|c.1051A>G|p.Thr351Ala|1305/4869|1051/4506|351/1501||,C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|9/30|c.595A>G|p.Thr199Ala|860/4424|595/4050|199/1349||,C|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|8/8|c.714-9399A>G||||||,C|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|11/12|n.1365A>G|||||| 22 44083501 . AT A . . ANN=|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|10/31|c.1032-41delA||||||,|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|8/29|c.576-41delA||||||,|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|8/8|c.714-9459delA||||||,|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|10/11|n.1346-41delA|||||| 22 44107306 . C T . . ANN=T|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|10/31|c.1031+49G>A||||||,T|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|8/29|c.575+49G>A||||||,T|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|8/8|c.713+49G>A||||||,T|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|10/11|n.1345+49G>A|||||| 22 44107329 . T C . . ANN=C|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|10/31|c.1031+26A>G||||||,C|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|8/29|c.575+26A>G||||||,C|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|8/8|c.713+26A>G||||||,C|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|10/11|n.1345+26A>G|||||| 22 44107407 . C T . . ANN=T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|10/32|c.979G>A|p.Asp327Asn|1233/4869|979/4506|327/1501||,T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|8/30|c.523G>A|p.Asp175Asn|788/4424|523/4050|175/1349||,T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|8/9|c.661G>A|p.Asp221Asn|844/1069|661/732|221/243||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_3|ENST00000262726|protein_coding|10/32|c.979G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_3|ENST00000396231|protein_coding|8/30|c.523G>A||||||,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|10/12|n.1293G>A|||||| 22 44107471 . G A . . ANN=A|synonymous_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|10/32|c.915C>T|p.Ala305Ala|1169/4869|915/4506|305/1501||,A|synonymous_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|8/30|c.459C>T|p.Ala153Ala|724/4424|459/4050|153/1349||,A|synonymous_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|8/9|c.597C>T|p.Ala199Ala|780/1069|597/732|199/243||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_3|ENST00000262726|protein_coding|10/32|c.915C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_3|ENST00000396231|protein_coding|8/30|c.459C>T||||||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|10/12|n.1229C>T|||||| 22 44107498 . C T . . ANN=T|synonymous_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|10/32|c.888G>A|p.Ser296Ser|1142/4869|888/4506|296/1501||,T|synonymous_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|8/30|c.432G>A|p.Ser144Ser|697/4424|432/4050|144/1349||,T|synonymous_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|8/9|c.570G>A|p.Ser190Ser|753/1069|570/732|190/243||,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|10/12|n.1202G>A|||||| 22 44107499 . G A . . ANN=A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|10/32|c.887C>T|p.Ser296Leu|1141/4869|887/4506|296/1501||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|8/30|c.431C>T|p.Ser144Leu|696/4424|431/4050|144/1349||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|8/9|c.569C>T|p.Ser190Leu|752/1069|569/732|190/243||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|10/12|n.1201C>T|||||| 22 44112807 . C T . . ANN=T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|9/32|c.803G>A|p.Arg268His|1057/4869|803/4506|268/1501||,T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|7/30|c.347G>A|p.Arg116His|612/4424|347/4050|116/1349||,T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|7/9|c.485G>A|p.Arg162His|668/1069|485/732|162/243||,T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000356087|protein_coding|8/8|c.485G>A|p.Arg162His|873/1129|485/603|162/200||,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|9/12|n.1117G>A|||||| 22 44112845 . C T . . ANN=T|synonymous_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|9/32|c.765G>A|p.Ser255Ser|1019/4869|765/4506|255/1501||,T|synonymous_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|7/30|c.309G>A|p.Ser103Ser|574/4424|309/4050|103/1349||,T|synonymous_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|7/9|c.447G>A|p.Ser149Ser|630/1069|447/732|149/243||,T|synonymous_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000356087|protein_coding|8/8|c.447G>A|p.Ser149Ser|835/1129|447/603|149/200||,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|9/12|n.1079G>A|||||| 22 44112846 . G A . . ANN=A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|9/32|c.764C>T|p.Ser255Leu|1018/4869|764/4506|255/1501||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|7/30|c.308C>T|p.Ser103Leu|573/4424|308/4050|103/1349||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|7/9|c.446C>T|p.Ser149Leu|629/1069|446/732|149/243||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000356087|protein_coding|8/8|c.446C>T|p.Ser149Leu|834/1129|446/603|149/200||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|9/12|n.1078C>T|||||| 22 44127543 . T C . . ANN=C|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|8/31|c.757+36A>G||||||,C|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|6/29|c.301+36A>G||||||,C|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|6/8|c.439+36A>G||||||,C|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|8/11|n.1071+36A>G||||||,C|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000356087|protein_coding|7/7|c.439+36A>G|||||| 22 44127629 . T G . . ANN=G|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|8/32|c.707A>C|p.Asn236Thr|961/4869|707/4506|236/1501||,G|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|6/30|c.251A>C|p.Asn84Thr|516/4424|251/4050|84/1349||,G|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|6/9|c.389A>C|p.Asn130Thr|572/1069|389/732|130/243||,G|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000356087|protein_coding|7/8|c.389A>C|p.Asn130Thr|777/1129|389/603|130/200||,G|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|8/12|n.1021A>C|||||| 22 44127643 . G A . . ANN=A|synonymous_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|8/32|c.693C>T|p.Asn231Asn|947/4869|693/4506|231/1501||,A|synonymous_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|6/30|c.237C>T|p.Asn79Asn|502/4424|237/4050|79/1349||,A|synonymous_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|6/9|c.375C>T|p.Asn125Asn|558/1069|375/732|125/243||,A|synonymous_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000356087|protein_coding|7/8|c.375C>T|p.Asn125Asn|763/1129|375/603|125/200||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|8/12|n.1007C>T|||||| 22 44131776 . T C . . ANN=C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|7/32|c.605A>G|p.Glu202Gly|859/4869|605/4506|202/1501||,C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|5/30|c.149A>G|p.Glu50Gly|414/4424|149/4050|50/1349||,C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|5/9|c.287A>G|p.Glu96Gly|470/1069|287/732|96/243||,C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000356087|protein_coding|6/8|c.287A>G|p.Glu96Gly|675/1129|287/603|96/200||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_2|ENST00000262726|protein_coding|7/32|c.605A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_2|ENST00000396231|protein_coding|5/30|c.149A>G||||||,C|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|7/12|n.919A>G|||||| 22 44131786 . T C . . ANN=C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|7/32|c.595A>G|p.Arg199Gly|849/4869|595/4506|199/1501||,C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|5/30|c.139A>G|p.Arg47Gly|404/4424|139/4050|47/1349||,C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|5/9|c.277A>G|p.Arg93Gly|460/1069|277/732|93/243||,C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000356087|protein_coding|6/8|c.277A>G|p.Arg93Gly|665/1129|277/603|93/200||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_2|ENST00000262726|protein_coding|7/32|c.595A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_2|ENST00000396231|protein_coding|5/30|c.139A>G||||||,C|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|7/12|n.909A>G|||||| 22 44131803 . C T . . ANN=T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|7/32|c.578G>A|p.Arg193Gln|832/4869|578/4506|193/1501||,T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|5/30|c.122G>A|p.Arg41Gln|387/4424|122/4050|41/1349||,T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|5/9|c.260G>A|p.Arg87Gln|443/1069|260/732|87/243||,T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000356087|protein_coding|6/8|c.260G>A|p.Arg87Gln|648/1129|260/603|87/200||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_2|ENST00000262726|protein_coding|7/32|c.578G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_2|ENST00000396231|protein_coding|5/30|c.122G>A||||||,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|7/12|n.892G>A|||||| 22 44131832 . G A . . ANN=A|synonymous_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|7/32|c.549C>T|p.Leu183Leu|803/4869|549/4506|183/1501||,A|synonymous_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|5/30|c.93C>T|p.Leu31Leu|358/4424|93/4050|31/1349||,A|synonymous_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|5/9|c.231C>T|p.Leu77Leu|414/1069|231/732|77/243||,A|synonymous_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000356087|protein_coding|6/8|c.231C>T|p.Leu77Leu|619/1129|231/603|77/200||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_2|ENST00000262726|protein_coding|7/32|c.549C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_2|ENST00000396231|protein_coding|5/30|c.93C>T||||||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|7/12|n.863C>T|||||| 22 44151656 . A G . . ANN=G|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|6/32|c.497T>C|p.Val166Ala|751/4869|497/4506|166/1501||,G|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|4/30|c.41T>C|p.Val14Ala|306/4424|41/4050|14/1349||,G|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|4/9|c.179T>C|p.Val60Ala|362/1069|179/732|60/243||,G|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000356087|protein_coding|5/8|c.179T>C|p.Val60Ala|567/1129|179/603|60/200||,G|downstream_gene_variant|MODIFIER|RP3-388M5.8|ENSG00000233157|transcript|ENST00000419730|processed_pseudogene||n.*712T>C|||||3423|,G|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|6/12|n.811T>C|||||| 22 44151684 . G A . . ANN=A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|6/32|c.469C>T|p.Arg157Cys|723/4869|469/4506|157/1501||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|4/30|c.13C>T|p.Arg5Cys|278/4424|13/4050|5/1349||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|4/9|c.151C>T|p.Arg51Cys|334/1069|151/732|51/243||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000356087|protein_coding|5/8|c.151C>T|p.Arg51Cys|539/1129|151/603|51/200||,A|downstream_gene_variant|MODIFIER|RP3-388M5.8|ENSG00000233157|transcript|ENST00000419730|processed_pseudogene||n.*712C>T|||||3395|,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|6/12|n.783C>T|||||| 22 44151721 . TA T . . ANN=|downstream_gene_variant|MODIFIER|RP3-388M5.8|ENSG00000233157|transcript|ENST00000419730|processed_pseudogene||n.*712delT|||||3357|,|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|5/31|c.441-10delT||||||,|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|3/29|c.-16-10delT||||||,|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|3/8|c.123-10delT||||||,|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|5/11|n.755-10delT||||||,|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000356087|protein_coding|4/7|c.123-10delT|||||| 22 44161173 . C G . . ANN=G|downstream_gene_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000476600|processed_transcript||n.*419G>C|||||12|,G|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|5/31|c.440+12G>C||||||,G|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|3/29|c.-17+12G>C||||||,G|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|3/8|c.122+12G>C||||||,G|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|5/11|n.754+12G>C||||||,G|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000356087|protein_coding|4/7|c.122+12G>C|||||| 22 44161194 . C T . . ANN=T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|5/32|c.431G>A|p.Gly144Asp|685/4869|431/4506|144/1501||,T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|3/9|c.113G>A|p.Gly38Asp|296/1069|113/732|38/243||,T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000356087|protein_coding|4/8|c.113G>A|p.Gly38Asp|501/1129|113/603|38/200||,T|5_prime_UTR_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|3/30|c.-26G>A|||||9498|,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|5/12|n.745G>A||||||,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000476600|processed_transcript|4/4|n.410G>A|||||| 22 44161245 . G A . . ANN=A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|5/32|c.380C>T|p.Pro127Leu|634/4869|380/4506|127/1501||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|3/9|c.62C>T|p.Pro21Leu|245/1069|62/732|21/243||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000356087|protein_coding|4/8|c.62C>T|p.Pro21Leu|450/1129|62/603|21/200||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|3/30|c.-77C>T||||||,A|5_prime_UTR_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|3/30|c.-77C>T|||||9549|,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|5/12|n.694C>T||||||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000476600|processed_transcript|4/4|n.359C>T|||||| 22 44161261 . T A . . ANN=A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|5/32|c.364A>T|p.Thr122Ser|618/4869|364/4506|122/1501||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|3/9|c.46A>T|p.Thr16Ser|229/1069|46/732|16/243||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000356087|protein_coding|4/8|c.46A>T|p.Thr16Ser|434/1129|46/603|16/200||,A|5_prime_UTR_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|3/30|c.-93A>T|||||9565|,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|5/12|n.678A>T||||||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000476600|processed_transcript|4/4|n.343A>T|||||| 22 44161285 . G C . . ANN=C|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|4/31|c.352-12C>G||||||,C|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|2/29|c.-105-12C>G||||||,C|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|2/8|c.34-12C>G||||||,C|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|4/11|n.666-12C>G||||||,C|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000356087|protein_coding|3/7|c.34-12C>G||||||,C|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000476600|processed_transcript|3/3|n.331-12C>G|||||| 22 44168935 . A G . . ANN=G|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|4/32|c.188T>C|p.Ile63Thr|442/4869|188/4506|63/1501||,G|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|2/29|c.-105-7662T>C||||||,G|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|2/8|c.34-7662T>C||||||,G|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000356087|protein_coding|3/7|c.34-7662T>C||||||,G|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000476600|processed_transcript|3/3|n.331-7662T>C||||||,G|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|4/12|n.502T>C|||||| 22 44168955 . G A . . ANN=A|synonymous_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|4/32|c.168C>T|p.Ser56Ser|422/4869|168/4506|56/1501||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|2/29|c.-105-7682C>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|2/8|c.34-7682C>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000356087|protein_coding|3/7|c.34-7682C>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000476600|processed_transcript|3/3|n.331-7682C>T||||||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|4/12|n.482C>T|||||| 22 44178050 . G A . . ANN=A|downstream_gene_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000485142|processed_transcript||n.*467C>T|||||40|,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|3/31|c.139+10C>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|2/29|c.-105-16777C>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|2/8|c.33+10C>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|3/11|n.453+10C>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000356087|protein_coding|3/7|c.33+10C>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000476600|processed_transcript|3/3|n.330+15075C>T|||||| 22 44178103 . T C . . ANN=C|synonymous_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|3/32|c.96A>G|p.Val32Val|350/4869|96/4506|32/1501||,C|5_prime_UTR_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|2/9|c.-11A>G|||||11|,C|5_prime_UTR_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000356087|protein_coding|3/8|c.-11A>G|||||11|,C|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|2/29|c.-105-16830A>G||||||,C|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000476600|processed_transcript|3/3|n.330+15022A>G||||||,C|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|3/12|n.410A>G||||||,C|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000485142|processed_transcript|4/4|n.454A>G|||||| 22 44178160 . C T . . ANN=T|synonymous_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|3/32|c.39G>A|p.Ser13Ser|293/4869|39/4506|13/1501||,T|5_prime_UTR_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|2/9|c.-68G>A|||||68|,T|5_prime_UTR_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000356087|protein_coding|3/8|c.-68G>A|||||68|,T|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|2/29|c.-105-16887G>A||||||,T|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000476600|processed_transcript|3/3|n.330+14965G>A||||||,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|3/12|n.353G>A||||||,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000485142|processed_transcript|4/4|n.397G>A|||||| 22 44178161 . G A . . ANN=A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|3/32|c.38C>T|p.Ser13Leu|292/4869|38/4506|13/1501||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|2/9|c.-69C>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000356087|protein_coding|3/8|c.-69C>T||||||,A|5_prime_UTR_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|2/9|c.-69C>T|||||69|,A|5_prime_UTR_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000356087|protein_coding|3/8|c.-69C>T|||||69|,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|2/29|c.-105-16888C>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000476600|processed_transcript|3/3|n.330+14964C>T||||||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|3/12|n.352C>T||||||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000485142|processed_transcript|4/4|n.396C>T|||||| 22 44178231 . C T . . ANN=T|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|2/31|c.-7-26G>A||||||,T|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|2/29|c.-105-16958G>A||||||,T|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|1/8|c.-113-26G>A||||||,T|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|2/11|n.308-26G>A||||||,T|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000356087|protein_coding|2/7|c.-113-26G>A||||||,T|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000476600|processed_transcript|3/3|n.330+14894G>A||||||,T|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000485142|processed_transcript|3/3|n.352-26G>A|||||| 22 44178232 . G A . . ANN=A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|2/31|c.-7-27C>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|2/29|c.-105-16959C>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|1/8|c.-113-27C>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|2/11|n.308-27C>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000356087|protein_coding|2/7|c.-113-27C>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000476600|processed_transcript|3/3|n.330+14893C>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000485142|processed_transcript|3/3|n.352-27C>T|||||| 22 44221971 . G A . . ANN=A|synonymous_variant|LOW|SULT4A1|ENSG00000130540|transcript|ENST00000330884|protein_coding|7/7|c.765C>T|p.Asp255Asp|886/2468|765/855|255/284||,A|synonymous_variant|LOW|SULT4A1|ENSG00000130540|transcript|ENST00000540422|protein_coding|4/4|c.426C>T|p.Asp142Asp|478/1100|426/516|142/171||,A|sequence_feature|LOW|SULT4A1|ENSG00000130540|helix|ENST00000330884|protein_coding|7/7|c.765C>T||||||,A|3_prime_UTR_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000432404|nonsense_mediated_decay|6/6|n.*406C>T|||||13876|,A|3_prime_UTR_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000422525|nonsense_mediated_decay|8/8|n.*109C>T|||||1509|,A|downstream_gene_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000249130|protein_coding||c.*919C>T|||||1509|,A|downstream_gene_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000475131|retained_intron||n.*535C>T|||||2715|,A|non_coding_exon_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000432404|nonsense_mediated_decay|6/6|n.*406C>T||||||,A|non_coding_exon_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000422525|nonsense_mediated_decay|8/8|n.*109C>T|||||| 22 44222001 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|SULT4A1|ENSG00000130540|transcript|ENST00000330884|protein_coding|6/6|c.743-8C>T||||||,A|splice_region_variant&intron_variant|LOW|SULT4A1|ENSG00000130540|transcript|ENST00000432404|nonsense_mediated_decay|5/5|n.*384-8C>T||||||,A|splice_region_variant&intron_variant|LOW|SULT4A1|ENSG00000130540|transcript|ENST00000422525|nonsense_mediated_decay|7/7|n.*87-8C>T||||||,A|splice_region_variant&intron_variant|LOW|SULT4A1|ENSG00000130540|transcript|ENST00000540422|protein_coding|3/3|c.404-8C>T||||||,A|downstream_gene_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000249130|protein_coding||c.*919C>T|||||1479|,A|downstream_gene_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000475131|retained_intron||n.*535C>T|||||2685| 22 44222036 . G A . . ANN=A|downstream_gene_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000249130|protein_coding||c.*919C>T|||||1444|,A|downstream_gene_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000475131|retained_intron||n.*535C>T|||||2650|,A|intron_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000330884|protein_coding|6/6|c.743-43C>T||||||,A|intron_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000432404|nonsense_mediated_decay|5/5|n.*384-43C>T||||||,A|intron_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000422525|nonsense_mediated_decay|7/7|n.*87-43C>T||||||,A|intron_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000540422|protein_coding|3/3|c.404-43C>T|||||| 22 44224917 . G A . . ANN=A|intron_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000330884|protein_coding|6/6|c.742+23C>T||||||,A|intron_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000432404|nonsense_mediated_decay|5/5|n.*383+23C>T||||||,A|intron_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000422525|nonsense_mediated_decay|6/7|n.742+23C>T||||||,A|intron_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000540422|protein_coding|3/3|c.403+23C>T||||||,A|intron_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000249130|protein_coding|6/6|c.742+23C>T||||||,A|non_coding_exon_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000475131|retained_intron|3/3|n.304C>T|||||| 22 44225073 . C A . . ANN=A|synonymous_variant|LOW|SULT4A1|ENSG00000130540|transcript|ENST00000330884|protein_coding|6/7|c.609G>T|p.Leu203Leu|730/2468|609/855|203/284||,A|synonymous_variant|LOW|SULT4A1|ENSG00000130540|transcript|ENST00000540422|protein_coding|3/4|c.270G>T|p.Leu90Leu|322/1100|270/516|90/171||,A|synonymous_variant|LOW|SULT4A1|ENSG00000130540|transcript|ENST00000249130|protein_coding|6/7|c.609G>T|p.Leu203Leu|745/919|609/783|203/260||,A|sequence_feature|LOW|SULT4A1|ENSG00000130540|helix|ENST00000330884|protein_coding|6/7|c.609G>T||||||,A|sequence_feature|LOW|SULT4A1|ENSG00000130540|helix|ENST00000249130|protein_coding|6/7|c.609G>T||||||,A|3_prime_UTR_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000432404|nonsense_mediated_decay|5/6|n.*250G>T|||||10774|,A|non_coding_exon_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000432404|nonsense_mediated_decay|5/6|n.*250G>T||||||,A|non_coding_exon_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000422525|nonsense_mediated_decay|6/8|n.609G>T||||||,A|non_coding_exon_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000475131|retained_intron|3/3|n.148G>T|||||| 22 44229492 . G C . . ANN=C|intron_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000330884|protein_coding|5/6|c.603+28C>G||||||,C|intron_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000432404|nonsense_mediated_decay|4/5|n.*244+28C>G||||||,C|intron_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000422525|nonsense_mediated_decay|5/7|n.603+28C>G||||||,C|intron_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000540422|protein_coding|2/3|c.264+28C>G||||||,C|intron_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000249130|protein_coding|5/6|c.603+28C>G||||||,C|intron_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000475131|retained_intron|2/2|n.142+28C>G|||||| 22 44229508 . G A . . ANN=A|intron_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000330884|protein_coding|5/6|c.603+12C>T||||||,A|intron_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000432404|nonsense_mediated_decay|4/5|n.*244+12C>T||||||,A|intron_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000422525|nonsense_mediated_decay|5/7|n.603+12C>T||||||,A|intron_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000540422|protein_coding|2/3|c.264+12C>T||||||,A|intron_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000249130|protein_coding|5/6|c.603+12C>T||||||,A|intron_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000475131|retained_intron|2/2|n.142+12C>T|||||| 22 44234713 . C T . . ANN=T|intron_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000330884|protein_coding|4/6|c.508+34G>A||||||,T|intron_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000432404|nonsense_mediated_decay|3/5|n.*149+34G>A||||||,T|intron_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000422525|nonsense_mediated_decay|4/7|n.508+34G>A||||||,T|intron_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000540422|protein_coding|1/3|c.170-5099G>A||||||,T|intron_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000249130|protein_coding|4/6|c.508+34G>A||||||,T|intron_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000475131|retained_intron|1/2|n.47+34G>A|||||| 22 44234728 . G T . . ANN=T|intron_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000330884|protein_coding|4/6|c.508+19C>A||||||,T|intron_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000432404|nonsense_mediated_decay|3/5|n.*149+19C>A||||||,T|intron_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000422525|nonsense_mediated_decay|4/7|n.508+19C>A||||||,T|intron_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000540422|protein_coding|1/3|c.170-5114C>A||||||,T|intron_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000249130|protein_coding|4/6|c.508+19C>A||||||,T|intron_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000475131|retained_intron|1/2|n.47+19C>A|||||| 22 44234737 . C T . . ANN=T|intron_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000330884|protein_coding|4/6|c.508+10G>A||||||,T|intron_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000432404|nonsense_mediated_decay|3/5|n.*149+10G>A||||||,T|intron_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000422525|nonsense_mediated_decay|4/7|n.508+10G>A||||||,T|intron_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000540422|protein_coding|1/3|c.170-5123G>A||||||,T|intron_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000249130|protein_coding|4/6|c.508+10G>A||||||,T|intron_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000475131|retained_intron|1/2|n.47+10G>A|||||| 22 44235819 . G GCTTA . . ANN=CTTA|splice_region_variant&intron_variant|LOW|SULT4A1|ENSG00000130540|transcript|ENST00000330884|protein_coding|3/6|c.381+2_381+5dupTAAG||||||,CTTA|splice_region_variant&intron_variant|LOW|SULT4A1|ENSG00000130540|transcript|ENST00000432404|nonsense_mediated_decay|2/5|n.*22+2_*22+5dupTAAG||||||,CTTA|splice_region_variant&intron_variant|LOW|SULT4A1|ENSG00000130540|transcript|ENST00000422525|nonsense_mediated_decay|3/7|n.381+2_381+5dupTAAG||||||,CTTA|splice_region_variant&intron_variant|LOW|SULT4A1|ENSG00000130540|transcript|ENST00000249130|protein_coding|3/6|c.381+2_381+5dupTAAG||||||,CTTA|sequence_feature|LOW|SULT4A1|ENSG00000130540|beta_strand|ENST00000330884|protein_coding|3/7|c.381+2_381+5dupTAAG||||||,CTTA|sequence_feature|LOW|SULT4A1|ENSG00000130540|beta_strand|ENST00000330884|protein_coding|4/7|c.381+2_381+5dupTAAG||||||,CTTA|sequence_feature|LOW|SULT4A1|ENSG00000130540|beta_strand|ENST00000249130|protein_coding|3/7|c.381+2_381+5dupTAAG||||||,CTTA|sequence_feature|LOW|SULT4A1|ENSG00000130540|beta_strand|ENST00000249130|protein_coding|4/7|c.381+2_381+5dupTAAG||||||,CTTA|upstream_gene_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000475131|retained_intron||n.-1_-1dupTAAG|||||1027|,CTTA|intron_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000540422|protein_coding|1/3|c.170-6209_170-6206dupTAAG|||||| 22 44237662 . G A . . ANN=A|sequence_feature|LOW|SULT4A1|ENSG00000130540|helix|ENST00000330884|protein_coding|3/7|c.300+20C>T||||||,A|sequence_feature|LOW|SULT4A1|ENSG00000130540|helix|ENST00000330884|protein_coding|2/7|c.300+20C>T||||||,A|sequence_feature|LOW|SULT4A1|ENSG00000130540|helix|ENST00000249130|protein_coding|3/7|c.300+20C>T||||||,A|sequence_feature|LOW|SULT4A1|ENSG00000130540|helix|ENST00000249130|protein_coding|2/7|c.300+20C>T||||||,A|upstream_gene_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000475131|retained_intron||n.-1C>T|||||2869|,A|intron_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000330884|protein_coding|2/6|c.300+20C>T||||||,A|intron_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000432404|nonsense_mediated_decay|1/5|n.170-1757C>T||||||,A|intron_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000422525|nonsense_mediated_decay|2/7|n.300+20C>T||||||,A|intron_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000540422|protein_coding|1/3|c.170-8048C>T||||||,A|intron_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000249130|protein_coding|2/6|c.300+20C>T|||||| 22 44237700 . C T . . ANN=T|synonymous_variant|LOW|SULT4A1|ENSG00000130540|transcript|ENST00000330884|protein_coding|2/7|c.282G>A|p.Pro94Pro|403/2468|282/855|94/284||,T|synonymous_variant|LOW|SULT4A1|ENSG00000130540|transcript|ENST00000249130|protein_coding|2/7|c.282G>A|p.Pro94Pro|418/919|282/783|94/260||,T|sequence_feature|LOW|SULT4A1|ENSG00000130540|beta_strand|ENST00000330884|protein_coding|2/7|c.282G>A||||||,T|sequence_feature|LOW|SULT4A1|ENSG00000130540|beta_strand|ENST00000249130|protein_coding|2/7|c.282G>A||||||,T|upstream_gene_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000475131|retained_intron||n.-1G>A|||||2907|,T|intron_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000432404|nonsense_mediated_decay|1/5|n.170-1795G>A||||||,T|intron_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000540422|protein_coding|1/3|c.170-8086G>A||||||,T|non_coding_exon_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000422525|nonsense_mediated_decay|2/8|n.282G>A|||||| 22 44237862 . C T . . ANN=T|upstream_gene_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000475131|retained_intron||n.-1G>A|||||3069|,T|intron_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000330884|protein_coding|1/6|c.170-50G>A||||||,T|intron_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000432404|nonsense_mediated_decay|1/5|n.170-1957G>A||||||,T|intron_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000422525|nonsense_mediated_decay|1/7|n.170-50G>A||||||,T|intron_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000540422|protein_coding|1/3|c.170-8248G>A||||||,T|intron_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000249130|protein_coding|1/6|c.170-50G>A|||||| 22 44258221 . C T . . ANN=T|synonymous_variant|LOW|SULT4A1|ENSG00000130540|transcript|ENST00000330884|protein_coding|1/7|c.42G>A|p.Glu14Glu|163/2468|42/855|14/284||,T|synonymous_variant|LOW|SULT4A1|ENSG00000130540|transcript|ENST00000540422|protein_coding|1/4|c.42G>A|p.Glu14Glu|94/1100|42/516|14/171||,T|synonymous_variant|LOW|SULT4A1|ENSG00000130540|transcript|ENST00000249130|protein_coding|1/7|c.42G>A|p.Glu14Glu|178/919|42/783|14/260||,T|non_coding_exon_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000432404|nonsense_mediated_decay|1/6|n.42G>A||||||,T|non_coding_exon_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000422525|nonsense_mediated_decay|1/8|n.42G>A|||||| 22 44258283 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000330884|protein_coding|1/7|c.-21G>A|||||21|,T|5_prime_UTR_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000432404|nonsense_mediated_decay|1/6|n.-21G>A|||||21|,T|5_prime_UTR_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000422525|nonsense_mediated_decay|1/8|n.-21G>A|||||21|,T|5_prime_UTR_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000540422|protein_coding|1/4|c.-21G>A|||||21|,T|5_prime_UTR_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000249130|protein_coding|1/7|c.-21G>A|||||21|,T|non_coding_exon_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000432404|nonsense_mediated_decay|1/6|n.-21G>A||||||,T|non_coding_exon_variant|MODIFIER|SULT4A1|ENSG00000130540|transcript|ENST00000422525|nonsense_mediated_decay|1/8|n.-21G>A|||||| 22 44276760 . G A . . ANN=A|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|9/9|c.1205C>T|p.Pro402Leu|1338/2539|1205/1290|402/429||,A|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|9/9|c.1205C>T|p.Pro402Leu|1335/2537|1205/1290|402/429||,A|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|7/7|c.863C>T|p.Pro288Leu|996/2197|863/948|288/315||,A|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|7/7|c.863C>T|p.Pro288Leu|996/2000|863/948|288/315||,A|downstream_gene_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding||c.*921C>T|||||3333|WARNING_TRANSCRIPT_INCOMPLETE 22 44276788 . G A . . ANN=A|downstream_gene_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding||c.*921C>T|||||3305|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|8/8|c.1200-23C>T||||||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|8/8|c.1200-23C>T||||||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|6/6|c.858-23C>T||||||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|6/6|c.858-23C>T|||||| 22 44276807 . G A . . ANN=A|downstream_gene_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding||c.*921C>T|||||3286|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|8/8|c.1200-42C>T||||||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|8/8|c.1200-42C>T||||||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|6/6|c.858-42C>T||||||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|6/6|c.858-42C>T|||||| 22 44277398 . CA C . . ANN=|downstream_gene_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding||c.*921delT|||||2694|WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|8/8|c.1199+39delT||||||,|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|8/8|c.1199+39delT||||||,|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|6/6|c.857+39delT||||||,|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|6/6|c.857+39delT|||||| 22 44277406 . C T . . ANN=T|downstream_gene_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding||c.*921G>A|||||2687|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|8/8|c.1199+32G>A||||||,T|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|8/8|c.1199+32G>A||||||,T|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|6/6|c.857+32G>A||||||,T|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|6/6|c.857+32G>A|||||| 22 44277512 . C G . . ANN=G|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|8/9|c.1125G>C|p.Trp375Cys|1258/2539|1125/1290|375/429||,G|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|8/9|c.1125G>C|p.Trp375Cys|1255/2537|1125/1290|375/429||,G|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|6/7|c.783G>C|p.Trp261Cys|916/2197|783/948|261/315||,G|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|6/7|c.783G>C|p.Trp261Cys|916/2000|783/948|261/315||,G|downstream_gene_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding||c.*921G>C|||||2581|WARNING_TRANSCRIPT_INCOMPLETE 22 44277559 . A T . . ANN=T|splice_region_variant&intron_variant|LOW|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|7/8|c.1083-5T>A||||||,T|splice_region_variant&intron_variant|LOW|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|7/8|c.1083-5T>A||||||,T|splice_region_variant&intron_variant|LOW|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|5/6|c.741-5T>A||||||,T|splice_region_variant&intron_variant|LOW|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|5/6|c.741-5T>A||||||,T|downstream_gene_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding||c.*921T>A|||||2534|WARNING_TRANSCRIPT_INCOMPLETE 22 44280049 . C T . . ANN=T|downstream_gene_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding||c.*921G>A|||||44|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|7/8|c.1082+44G>A||||||,T|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|7/8|c.1082+44G>A||||||,T|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|5/6|c.740+44G>A||||||,T|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|5/6|c.740+44G>A|||||| 22 44280050 . G A . . ANN=A|downstream_gene_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding||c.*921C>T|||||43|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|7/8|c.1082+43C>T||||||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|7/8|c.1082+43C>T||||||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|5/6|c.740+43C>T||||||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|5/6|c.740+43C>T|||||| 22 44280057 . G A . . ANN=A|downstream_gene_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding||c.*921C>T|||||36|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|7/8|c.1082+36C>T||||||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|7/8|c.1082+36C>T||||||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|5/6|c.740+36C>T||||||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|5/6|c.740+36C>T|||||| 22 44280076 . C T . . ANN=T|downstream_gene_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding||c.*921G>A|||||17|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|7/8|c.1082+17G>A||||||,T|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|7/8|c.1082+17G>A||||||,T|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|5/6|c.740+17G>A||||||,T|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|5/6|c.740+17G>A|||||| 22 44280184 . G C . . ANN=C|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|7/9|c.991C>G|p.Arg331Gly|1124/2539|991/1290|331/429||,C|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|7/9|c.991C>G|p.Arg331Gly|1121/2537|991/1290|331/429||,C|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|5/7|c.649C>G|p.Arg217Gly|782/2197|649/948|217/315||,C|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|5/7|c.649C>G|p.Arg217Gly|782/2000|649/948|217/315||,C|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding|5/5|c.715C>G|p.Arg239Gly|830/921|715/806|239/267||WARNING_TRANSCRIPT_INCOMPLETE 22 44280226 . C T . . ANN=T|splice_acceptor_variant&intron_variant|HIGH|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|6/8|c.950-1G>A||||||,T|splice_acceptor_variant&intron_variant|HIGH|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|6/8|c.950-1G>A||||||,T|splice_acceptor_variant&intron_variant|HIGH|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|4/6|c.608-1G>A||||||,T|splice_acceptor_variant&intron_variant|HIGH|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|4/6|c.608-1G>A||||||,T|splice_acceptor_variant&intron_variant|HIGH|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding|4/4|c.674-1G>A||||||WARNING_TRANSCRIPT_INCOMPLETE;LOF=(PNPLA5|ENSG00000100341|5|1.00) 22 44280250 . C T . . ANN=T|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|6/8|c.950-25G>A||||||,T|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|6/8|c.950-25G>A||||||,T|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|4/6|c.608-25G>A||||||,T|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|4/6|c.608-25G>A||||||,T|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding|4/4|c.674-25G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 44282177 . C A . . ANN=A|splice_region_variant&intron_variant|LOW|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|6/8|c.949+6G>T||||||,A|splice_region_variant&intron_variant|LOW|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|6/8|c.949+6G>T||||||,A|splice_region_variant&intron_variant|LOW|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|4/6|c.607+6G>T||||||,A|splice_region_variant&intron_variant|LOW|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|4/6|c.607+6G>T||||||,A|splice_region_variant&intron_variant|LOW|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding|4/4|c.673+6G>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 44282276 . A G . . ANN=G|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|6/9|c.856T>C|p.Trp286Arg|989/2539|856/1290|286/429||,G|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|6/9|c.856T>C|p.Trp286Arg|986/2537|856/1290|286/429||,G|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|4/7|c.514T>C|p.Trp172Arg|647/2197|514/948|172/315||,G|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|4/7|c.514T>C|p.Trp172Arg|647/2000|514/948|172/315||,G|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding|4/5|c.580T>C|p.Trp194Arg|695/921|580/806|194/267||WARNING_TRANSCRIPT_INCOMPLETE 22 44282278 . C T . . ANN=T|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|6/9|c.854G>A|p.Arg285His|987/2539|854/1290|285/429||,T|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|6/9|c.854G>A|p.Arg285His|984/2537|854/1290|285/429||,T|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|4/7|c.512G>A|p.Arg171His|645/2197|512/948|171/315||,T|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|4/7|c.512G>A|p.Arg171His|645/2000|512/948|171/315||,T|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding|4/5|c.578G>A|p.Arg193His|693/921|578/806|193/267||WARNING_TRANSCRIPT_INCOMPLETE 22 44282280 . T C . . ANN=C|synonymous_variant|LOW|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|6/9|c.852A>G|p.Gln284Gln|985/2539|852/1290|284/429||,C|synonymous_variant|LOW|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|6/9|c.852A>G|p.Gln284Gln|982/2537|852/1290|284/429||,C|synonymous_variant|LOW|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|4/7|c.510A>G|p.Gln170Gln|643/2197|510/948|170/315||,C|synonymous_variant|LOW|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|4/7|c.510A>G|p.Gln170Gln|643/2000|510/948|170/315||,C|synonymous_variant|LOW|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding|4/5|c.576A>G|p.Gln192Gln|691/921|576/806|192/267||WARNING_TRANSCRIPT_INCOMPLETE 22 44282307 . G A . . ANN=A|synonymous_variant|LOW|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|6/9|c.825C>T|p.Asp275Asp|958/2539|825/1290|275/429||,A|synonymous_variant|LOW|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|6/9|c.825C>T|p.Asp275Asp|955/2537|825/1290|275/429||,A|synonymous_variant|LOW|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|4/7|c.483C>T|p.Asp161Asp|616/2197|483/948|161/315||,A|synonymous_variant|LOW|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|4/7|c.483C>T|p.Asp161Asp|616/2000|483/948|161/315||,A|synonymous_variant|LOW|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding|4/5|c.549C>T|p.Asp183Asp|664/921|549/806|183/267||WARNING_TRANSCRIPT_INCOMPLETE 22 44282388 . A T . . ANN=T|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|5/8|c.764-20T>A||||||,T|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|5/8|c.764-20T>A||||||,T|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|3/6|c.422-20T>A||||||,T|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|3/6|c.422-20T>A||||||,T|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding|3/4|c.488-20T>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 44283440 . G A . . ANN=A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|5/8|c.763+31C>T||||||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|5/8|c.763+31C>T||||||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|3/6|c.421+31C>T||||||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|3/6|c.421+31C>T||||||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding|3/4|c.487+31C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 44283556 . A G . . ANN=G|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|4/8|c.703-25T>C||||||,G|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|4/8|c.707-29T>C||||||,G|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|2/6|c.361-25T>C||||||,G|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|2/6|c.365-29T>C||||||,G|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding|2/4|c.427-25T>C||||||WARNING_TRANSCRIPT_INCOMPLETE 22 44285258 . G A . . ANN=A|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|4/9|c.653C>T|p.Thr218Ile|786/2539|653/1290|218/429||,A|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|4/9|c.653C>T|p.Thr218Ile|783/2537|653/1290|218/429||,A|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|2/7|c.311C>T|p.Thr104Ile|444/2197|311/948|104/315||,A|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|2/7|c.311C>T|p.Thr104Ile|444/2000|311/948|104/315||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding|2/4|c.426+1684C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 44285272 . G A . . ANN=A|synonymous_variant|LOW|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|4/9|c.639C>T|p.Ser213Ser|772/2539|639/1290|213/429||,A|synonymous_variant|LOW|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|4/9|c.639C>T|p.Ser213Ser|769/2537|639/1290|213/429||,A|synonymous_variant|LOW|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|2/7|c.297C>T|p.Ser99Ser|430/2197|297/948|99/315||,A|synonymous_variant|LOW|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|2/7|c.297C>T|p.Ser99Ser|430/2000|297/948|99/315||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding|2/4|c.426+1670C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 44285312 . G A . . ANN=A|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|4/9|c.599C>T|p.Thr200Ile|732/2539|599/1290|200/429||,A|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|4/9|c.599C>T|p.Thr200Ile|729/2537|599/1290|200/429||,A|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|2/7|c.257C>T|p.Thr86Ile|390/2197|257/948|86/315||,A|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|2/7|c.257C>T|p.Thr86Ile|390/2000|257/948|86/315||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding|2/4|c.426+1630C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 44285348 . G A . . ANN=A|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|4/9|c.563C>T|p.Pro188Leu|696/2539|563/1290|188/429||,A|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|4/9|c.563C>T|p.Pro188Leu|693/2537|563/1290|188/429||,A|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|2/7|c.221C>T|p.Pro74Leu|354/2197|221/948|74/315||,A|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|2/7|c.221C>T|p.Pro74Leu|354/2000|221/948|74/315||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding|2/4|c.426+1594C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 44285418 . G A . . ANN=A|missense_variant&splice_region_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|4/9|c.493C>T|p.Arg165Cys|626/2539|493/1290|165/429||,A|missense_variant&splice_region_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|4/9|c.493C>T|p.Arg165Cys|623/2537|493/1290|165/429||,A|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|2/9|c.493C>T||||||,A|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|1/9|c.493C>T||||||,A|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|3/9|c.493C>T||||||,A|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|4/9|c.493C>T||||||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|1/6|c.194-43C>T||||||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|1/6|c.194-43C>T||||||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding|2/4|c.426+1524C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 44285428 . G A . . ANN=A|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|2/9|c.493-10C>T||||||,A|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|1/9|c.493-10C>T||||||,A|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|3/9|c.493-10C>T||||||,A|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|4/9|c.493-10C>T||||||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|3/8|c.493-10C>T||||||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|3/8|c.493-10C>T||||||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|1/6|c.194-53C>T||||||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|1/6|c.194-53C>T||||||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding|2/4|c.426+1514C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 44285639 . G A . . ANN=A|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|2/9|c.492+40C>T||||||,A|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|1/9|c.492+40C>T||||||,A|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|3/9|c.492+40C>T||||||,A|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|4/9|c.492+40C>T||||||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|3/8|c.492+40C>T||||||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|3/8|c.492+40C>T||||||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|1/6|c.194-264C>T||||||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|1/6|c.194-264C>T||||||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding|2/4|c.426+1303C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 44285658 . G A . . ANN=A|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|2/9|c.492+21C>T||||||,A|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|1/9|c.492+21C>T||||||,A|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|3/9|c.492+21C>T||||||,A|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|4/9|c.492+21C>T||||||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|3/8|c.492+21C>T||||||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|3/8|c.492+21C>T||||||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|1/6|c.194-283C>T||||||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|1/6|c.194-283C>T||||||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding|2/4|c.426+1284C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 44285667 . G A . . ANN=A|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|2/9|c.492+12C>T||||||,A|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|1/9|c.492+12C>T||||||,A|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|3/9|c.492+12C>T||||||,A|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|4/9|c.492+12C>T||||||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|3/8|c.492+12C>T||||||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|3/8|c.492+12C>T||||||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|1/6|c.194-292C>T||||||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|1/6|c.194-292C>T||||||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding|2/4|c.426+1275C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 44285693 . C T . . ANN=T|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|3/9|c.478G>A|p.Glu160Lys|611/2539|478/1290|160/429||,T|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|3/9|c.478G>A|p.Glu160Lys|608/2537|478/1290|160/429||,T|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|2/9|c.478G>A||||||,T|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|1/9|c.478G>A||||||,T|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|3/9|c.478G>A||||||,T|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|4/9|c.478G>A||||||,T|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|1/6|c.194-318G>A||||||,T|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|1/6|c.194-318G>A||||||,T|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding|2/4|c.426+1249G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 44285723 . A G . . ANN=G|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|3/9|c.448T>C|p.Phe150Leu|581/2539|448/1290|150/429||,G|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|3/9|c.448T>C|p.Phe150Leu|578/2537|448/1290|150/429||,G|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|2/9|c.448T>C||||||,G|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|1/9|c.448T>C||||||,G|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|3/9|c.448T>C||||||,G|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|4/9|c.448T>C||||||,G|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|1/6|c.194-348T>C||||||,G|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|1/6|c.194-348T>C||||||,G|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding|2/4|c.426+1219T>C||||||WARNING_TRANSCRIPT_INCOMPLETE 22 44285765 . A G . . ANN=G|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|2/9|c.427-21T>C||||||,G|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|1/9|c.427-21T>C||||||,G|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|3/9|c.427-21T>C||||||,G|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|4/9|c.427-21T>C||||||,G|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|2/8|c.427-21T>C||||||,G|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|2/8|c.427-21T>C||||||,G|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|1/6|c.194-390T>C||||||,G|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|1/6|c.194-390T>C||||||,G|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding|2/4|c.426+1177T>C||||||WARNING_TRANSCRIPT_INCOMPLETE 22 44286916 . A G . . ANN=G|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|2/9|c.426+26T>C||||||,G|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|1/9|c.426+26T>C||||||,G|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|3/9|c.426+26T>C||||||,G|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|4/9|c.426+26T>C||||||,G|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|2/8|c.426+26T>C||||||,G|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|2/8|c.426+26T>C||||||,G|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|1/6|c.193+652T>C||||||,G|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|1/6|c.193+652T>C||||||,G|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding|2/4|c.426+26T>C||||||WARNING_TRANSCRIPT_INCOMPLETE 22 44286930 . C A . . ANN=A|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|2/9|c.426+12G>T||||||,A|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|1/9|c.426+12G>T||||||,A|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|3/9|c.426+12G>T||||||,A|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|4/9|c.426+12G>T||||||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|2/8|c.426+12G>T||||||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|2/8|c.426+12G>T||||||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|1/6|c.193+638G>T||||||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|1/6|c.193+638G>T||||||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding|2/4|c.426+12G>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 44286950 . G A . . ANN=A|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|2/9|c.418C>T|p.Leu140Phe|551/2539|418/1290|140/429||,A|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|2/9|c.418C>T|p.Leu140Phe|548/2537|418/1290|140/429||,A|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding|2/5|c.418C>T|p.Leu140Phe|533/921|418/806|140/267||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|2/9|c.418C>T||||||,A|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|1/9|c.418C>T||||||,A|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|3/9|c.418C>T||||||,A|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|4/9|c.418C>T||||||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|1/6|c.193+618C>T||||||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|1/6|c.193+618C>T|||||| 22 44286956 . C T . . ANN=T|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|2/9|c.412G>A|p.Asp138Asn|545/2539|412/1290|138/429||,T|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|2/9|c.412G>A|p.Asp138Asn|542/2537|412/1290|138/429||,T|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding|2/5|c.412G>A|p.Asp138Asn|527/921|412/806|138/267||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|2/9|c.412G>A||||||,T|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|1/9|c.412G>A||||||,T|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|3/9|c.412G>A||||||,T|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|4/9|c.412G>A||||||,T|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|1/6|c.193+612G>A||||||,T|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|1/6|c.193+612G>A|||||| 22 44287062 . A G . . ANN=G|synonymous_variant|LOW|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|2/9|c.306T>C|p.Asp102Asp|439/2539|306/1290|102/429||,G|synonymous_variant|LOW|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|2/9|c.306T>C|p.Asp102Asp|436/2537|306/1290|102/429||,G|synonymous_variant|LOW|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding|2/5|c.306T>C|p.Asp102Asp|421/921|306/806|102/267||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|2/9|c.306T>C||||||,G|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|1/9|c.306T>C||||||,G|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|3/9|c.306T>C||||||,G|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|4/9|c.306T>C||||||,G|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|1/6|c.193+506T>C||||||,G|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|1/6|c.193+506T>C|||||| 22 44287073 . G A . . ANN=A|stop_gained|HIGH|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|2/9|c.295C>T|p.Gln99*|428/2539|295/1290|99/429||,A|stop_gained|HIGH|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|2/9|c.295C>T|p.Gln99*|425/2537|295/1290|99/429||,A|stop_gained|HIGH|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding|2/5|c.295C>T|p.Gln99*|410/921|295/806|99/267||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|2/9|c.295C>T||||||,A|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|1/9|c.295C>T||||||,A|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|3/9|c.295C>T||||||,A|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|4/9|c.295C>T||||||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|1/6|c.193+495C>T||||||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|1/6|c.193+495C>T||||||;LOF=(PNPLA5|ENSG00000100341|5|0.60);NMD=(PNPLA5|ENSG00000100341|5|0.60) 22 44287074 . C T . . ANN=T|synonymous_variant|LOW|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|2/9|c.294G>A|p.Gln98Gln|427/2539|294/1290|98/429||,T|synonymous_variant|LOW|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|2/9|c.294G>A|p.Gln98Gln|424/2537|294/1290|98/429||,T|synonymous_variant|LOW|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding|2/5|c.294G>A|p.Gln98Gln|409/921|294/806|98/267||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|2/9|c.294G>A||||||,T|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|1/9|c.294G>A||||||,T|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|3/9|c.294G>A||||||,T|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|4/9|c.294G>A||||||,T|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|1/6|c.193+494G>A||||||,T|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|1/6|c.193+494G>A|||||| 22 44287165 . C A . . ANN=A|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|2/9|c.203G>T|p.Cys68Phe|336/2539|203/1290|68/429||,A|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|2/9|c.203G>T|p.Cys68Phe|333/2537|203/1290|68/429||,A|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding|2/5|c.203G>T|p.Cys68Phe|318/921|203/806|68/267||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|2/9|c.203G>T||||||,A|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|1/9|c.203G>T||||||,A|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|3/9|c.203G>T||||||,A|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|4/9|c.203G>T||||||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|1/6|c.193+403G>T||||||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|1/6|c.193+403G>T|||||| 22 44287207 . C T . . ANN=T|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|2/9|c.194-33G>A||||||,T|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|1/9|c.194-33G>A||||||,T|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|3/9|c.194-33G>A||||||,T|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|4/9|c.194-33G>A||||||,T|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|1/8|c.194-33G>A||||||,T|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|1/8|c.194-33G>A||||||,T|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|1/6|c.193+361G>A||||||,T|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|1/6|c.193+361G>A||||||,T|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding|1/4|c.194-33G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 44287629 . G A . . ANN=A|synonymous_variant|LOW|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|1/9|c.132C>T|p.Arg44Arg|265/2539|132/1290|44/429||,A|synonymous_variant|LOW|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|1/9|c.132C>T|p.Arg44Arg|262/2537|132/1290|44/429||,A|synonymous_variant|LOW|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|1/7|c.132C>T|p.Arg44Arg|265/2197|132/948|44/315||,A|synonymous_variant|LOW|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|1/7|c.132C>T|p.Arg44Arg|265/2000|132/948|44/315||,A|synonymous_variant|LOW|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding|1/5|c.132C>T|p.Arg44Arg|247/921|132/806|44/267||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|2/9|c.132C>T||||||,A|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|1/9|c.132C>T||||||,A|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|3/9|c.132C>T||||||,A|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|4/9|c.132C>T|||||| 22 44287698 . G T . . ANN=T|synonymous_variant|LOW|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|1/9|c.63C>A|p.Gly21Gly|196/2539|63/1290|21/429||,T|synonymous_variant|LOW|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|1/9|c.63C>A|p.Gly21Gly|193/2537|63/1290|21/429||,T|synonymous_variant|LOW|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|1/7|c.63C>A|p.Gly21Gly|196/2197|63/948|21/315||,T|synonymous_variant|LOW|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|1/7|c.63C>A|p.Gly21Gly|196/2000|63/948|21/315||,T|synonymous_variant|LOW|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding|1/5|c.63C>A|p.Gly21Gly|178/921|63/806|21/267||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|2/9|c.63C>A||||||,T|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|1/9|c.63C>A||||||,T|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|3/9|c.63C>A||||||,T|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|4/9|c.63C>A|||||| 22 44319752 . C G . . ANN=G|5_prime_UTR_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|1/9|c.-40C>G|||||40|,G|5_prime_UTR_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|1/10|n.-40C>G|||||40|,G|5_prime_UTR_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|1/9|c.-40C>G|||||40|,G|upstream_gene_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript||n.-1C>G|||||242|,G|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|1/10|n.-40C>G|||||| 22 44319777 . CCCG C . . ANN=|5_prime_UTR_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|1/9|c.-3_-1delGCC|||||1|INFO_REALIGN_3_PRIME,|5_prime_UTR_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|1/10|n.-3_-1delGCC|||||1|INFO_REALIGN_3_PRIME,|5_prime_UTR_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|1/9|c.-3_-1delGCC|||||1|INFO_REALIGN_3_PRIME,|upstream_gene_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript||n.-1_-1delCCG|||||216|,|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|1/10|n.-3_-1delGCC||||||INFO_REALIGN_3_PRIME 22 44319951 . G A . . ANN=A|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|1/9|c.160G>A|p.Val54Ile|333/2805|160/1446|54/481||,A|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|1/9|c.160G>A|p.Val54Ile|269/2222|160/1434|54/477||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|3/9|c.160G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|2/9|c.160G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|4/9|c.160G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|1/9|c.160G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|transmembrane_region:Transmembrane_region|ENST00000216180|protein_coding|1/9|c.160G>A||||||,A|upstream_gene_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript||n.-1G>A|||||43|,A|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|1/10|n.160G>A|||||| 22 44319990 . G A . . ANN=A|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|3/9|c.187+12G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|2/9|c.187+12G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|4/9|c.187+12G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|1/9|c.187+12G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.187+12G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.187+12G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.187+12G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.187+12G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.187+12G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.187+12G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.187+12G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.187+12G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.187+12G>A||||||,A|upstream_gene_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript||n.-1G>A|||||4|,A|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|1/8|c.187+12G>A||||||,A|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|1/9|n.187+12G>A||||||,A|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|1/8|c.175+24G>A|||||| 22 44322766 . A G . . ANN=G|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|3/9|c.188-49A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|2/9|c.188-49A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|4/9|c.188-49A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|1/9|c.188-49A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.188-49A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.188-49A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.188-49A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.188-49A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.188-49A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.188-49A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.188-49A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.188-49A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.188-49A>G||||||,G|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|1/8|c.188-49A>G||||||,G|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|1/9|n.188-54A>G||||||,G|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|1/8|c.176-49A>G||||||,G|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript|1/3|n.222-49A>G|||||| 22 44322843 . T C . . ANN=C|synonymous_variant|LOW|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|2/9|c.216T>C|p.Leu72Leu|389/2805|216/1446|72/481||,C|synonymous_variant|LOW|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|2/9|c.204T>C|p.Leu68Leu|313/2222|204/1434|68/477||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|3/9|c.216T>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|2/9|c.216T>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|4/9|c.216T>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|1/9|c.216T>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.216T>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.216T>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.216T>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.216T>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.216T>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.216T>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.216T>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.216T>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.216T>C||||||,C|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|2/10|n.211T>C||||||,C|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript|2/4|n.250T>C|||||| 22 44322862 . C T . . ANN=T|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|2/9|c.235C>T|p.Arg79Trp|408/2805|235/1446|79/481||,T|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|2/9|c.223C>T|p.Arg75Trp|332/2222|223/1434|75/477||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|3/9|c.235C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|2/9|c.235C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|4/9|c.235C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|1/9|c.235C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.235C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.235C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.235C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.235C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.235C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.235C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.235C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.235C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.235C>T||||||,T|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|2/10|n.230C>T||||||,T|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript|2/4|n.269C>T|||||| 22 44322913 . C T . . ANN=T|stop_gained|HIGH|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|2/9|c.286C>T|p.Gln96*|459/2805|286/1446|96/481||,T|stop_gained|HIGH|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|2/9|c.274C>T|p.Gln92*|383/2222|274/1434|92/477||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|3/9|c.286C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|2/9|c.286C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|4/9|c.286C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|1/9|c.286C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.286C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.286C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.286C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.286C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.286C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.286C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.286C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.286C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.286C>T||||||,T|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|2/10|n.281C>T||||||,T|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript|2/4|n.320C>T||||||;LOF=(PNPLA3|ENSG00000100344|5|0.40);NMD=(PNPLA3|ENSG00000100344|5|0.40) 22 44322922 . T G . . ANN=G|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|2/9|c.295T>G|p.Cys99Gly|468/2805|295/1446|99/481||,G|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|2/9|c.283T>G|p.Cys95Gly|392/2222|283/1434|95/477||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|3/9|c.295T>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|2/9|c.295T>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|4/9|c.295T>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|1/9|c.295T>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.295T>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.295T>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.295T>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.295T>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.295T>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.295T>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.295T>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.295T>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.295T>G||||||,G|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|2/10|n.290T>G||||||,G|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript|2/4|n.329T>G|||||| 22 44322936 . G A . . ANN=A|synonymous_variant|LOW|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|2/9|c.309G>A|p.Pro103Pro|482/2805|309/1446|103/481||,A|synonymous_variant|LOW|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|2/9|c.297G>A|p.Pro99Pro|406/2222|297/1434|99/477||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|3/9|c.309G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|2/9|c.309G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|4/9|c.309G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|1/9|c.309G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.309G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.309G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.309G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.309G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.309G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.309G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.309G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.309G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.309G>A||||||,A|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|2/10|n.304G>A||||||,A|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript|2/4|n.343G>A|||||| 22 44322970 . G T . . ANN=T|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|2/9|c.343G>T|p.Gly115Cys|516/2805|343/1446|115/481||,T|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|2/9|c.331G>T|p.Gly111Cys|440/2222|331/1434|111/477||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|3/9|c.343G>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|2/9|c.343G>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|4/9|c.343G>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|1/9|c.343G>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.343G>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.343G>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.343G>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.343G>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.343G>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.343G>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.343G>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.343G>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.343G>T||||||,T|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|2/10|n.338G>T||||||,T|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript|2/4|n.377G>T|||||| 22 44322978 . T G . . ANN=G|synonymous_variant|LOW|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|2/9|c.351T>G|p.Ser117Ser|524/2805|351/1446|117/481||,G|synonymous_variant|LOW|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|2/9|c.339T>G|p.Ser113Ser|448/2222|339/1434|113/477||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|3/9|c.351T>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|2/9|c.351T>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|4/9|c.351T>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|1/9|c.351T>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.351T>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.351T>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.351T>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.351T>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.351T>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.351T>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.351T>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.351T>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.351T>G||||||,G|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|2/10|n.346T>G||||||,G|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript|2/4|n.385T>G|||||| 22 44323070 . C T . . ANN=T|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|3/9|c.420+23C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|2/9|c.420+23C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|4/9|c.420+23C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|1/9|c.420+23C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.420+23C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.420+23C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.420+23C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.420+23C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.420+23C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.420+23C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.420+23C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.420+23C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.420+23C>T||||||,T|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|2/8|c.420+23C>T||||||,T|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|2/9|n.*52+23C>T||||||,T|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|2/8|c.408+23C>T||||||,T|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript|2/3|n.454+23C>T|||||| 22 44323074 . G A . . ANN=A|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|3/9|c.420+27G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|2/9|c.420+27G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|4/9|c.420+27G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|1/9|c.420+27G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.420+27G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.420+27G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.420+27G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.420+27G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.420+27G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.420+27G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.420+27G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.420+27G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.420+27G>A||||||,A|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|2/8|c.420+27G>A||||||,A|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|2/9|n.*52+27G>A||||||,A|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|2/8|c.408+27G>A||||||,A|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript|2/3|n.454+27G>A|||||| 22 44323084 . A C . . ANN=C|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|3/9|c.420+37A>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|2/9|c.420+37A>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|4/9|c.420+37A>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|1/9|c.420+37A>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.420+37A>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.420+37A>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.420+37A>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.420+37A>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.420+37A>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.420+37A>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.420+37A>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.420+37A>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.420+37A>C||||||,C|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|2/8|c.420+37A>C||||||,C|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|2/9|n.*52+37A>C||||||,C|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|2/8|c.408+37A>C||||||,C|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript|2/3|n.454+37A>C|||||| 22 44324676 . A G . . ANN=G|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|3/9|c.421-28A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|2/9|c.421-28A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|4/9|c.421-28A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|1/9|c.421-28A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.421-28A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.421-28A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.421-28A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.421-28A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.421-28A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.421-28A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.421-28A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.421-28A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.421-28A>G||||||,G|upstream_gene_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000497129|processed_transcript||n.-1A>G|||||4211|,G|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|2/8|c.421-28A>G||||||,G|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|2/9|n.*53-28A>G||||||,G|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|2/8|c.409-28A>G||||||,G|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript|2/3|n.455-28A>G|||||| 22 44324727 . C G . . ANN=G|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|3/9|c.444C>G|p.Ile148Met|617/2805|444/1446|148/481||,G|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|3/9|c.432C>G|p.Ile144Met|541/2222|432/1434|144/477||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|3/9|c.444C>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|2/9|c.444C>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|4/9|c.444C>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|1/9|c.444C>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.444C>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.444C>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.444C>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.444C>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.444C>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.444C>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.444C>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.444C>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.444C>G||||||,G|3_prime_UTR_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|3/10|n.*76C>G|||||1732|,G|upstream_gene_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000497129|processed_transcript||n.-1C>G|||||4160|,G|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|3/10|n.*76C>G||||||,G|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript|3/4|n.478C>G|||||| 22 44324730 . C T . . ANN=T|synonymous_variant|LOW|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|3/9|c.447C>T|p.Pro149Pro|620/2805|447/1446|149/481||,T|synonymous_variant|LOW|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|3/9|c.435C>T|p.Pro145Pro|544/2222|435/1434|145/477||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|3/9|c.447C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|2/9|c.447C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|4/9|c.447C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|1/9|c.447C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.447C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.447C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.447C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.447C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.447C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.447C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.447C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.447C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.447C>T||||||,T|3_prime_UTR_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|3/10|n.*79C>T|||||1735|,T|upstream_gene_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000497129|processed_transcript||n.-1C>T|||||4157|,T|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|3/10|n.*79C>T||||||,T|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript|3/4|n.481C>T|||||| 22 44328730 . G A . . ANN=A|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|3/9|c.487-28G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|2/9|c.487-28G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|4/9|c.487-28G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|1/9|c.487-28G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.487-28G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.487-28G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.487-28G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.487-28G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.487-28G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.487-28G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.487-28G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.487-28G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.487-28G>A||||||,A|upstream_gene_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000497129|processed_transcript||n.-1G>A|||||157|,A|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|3/8|c.487-28G>A||||||,A|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|3/9|n.*119-28G>A||||||,A|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|3/8|c.475-28G>A||||||,A|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript|3/3|n.521-28G>A|||||| 22 44328737 . CT C . . ANN=|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|3/9|c.487-20delT||||||,|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|2/9|c.487-20delT||||||,|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|4/9|c.487-20delT||||||,|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|1/9|c.487-20delT||||||,|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.487-20delT||||||,|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.487-20delT||||||,|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.487-20delT||||||,|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.487-20delT||||||,|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.487-20delT||||||,|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.487-20delT||||||,|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.487-20delT||||||,|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.487-20delT||||||,|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.487-20delT||||||,|upstream_gene_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000497129|processed_transcript||n.-1delT|||||149|,|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|3/8|c.487-16delT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|3/9|n.*119-16delT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|3/8|c.475-16delT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript|3/3|n.521-16delT||||||INFO_REALIGN_3_PRIME 22 44328742 . TC T . . ANN=|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|3/9|c.487-15delC||||||,|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|2/9|c.487-15delC||||||,|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|4/9|c.487-15delC||||||,|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|1/9|c.487-15delC||||||,|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.487-15delC||||||,|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.487-15delC||||||,|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.487-15delC||||||,|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.487-15delC||||||,|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.487-15delC||||||,|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.487-15delC||||||,|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.487-15delC||||||,|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.487-15delC||||||,|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.487-15delC||||||,|upstream_gene_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000497129|processed_transcript||n.-1delC|||||144|,|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|3/8|c.487-12delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|3/9|n.*119-12delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|3/8|c.475-12delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript|3/3|n.521-12delC||||||INFO_REALIGN_3_PRIME 22 44328798 . T C . . ANN=C|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|4/9|c.527T>C|p.Ile176Thr|700/2805|527/1446|176/481||,C|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|4/9|c.515T>C|p.Ile172Thr|624/2222|515/1434|172/477||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|3/9|c.527T>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|2/9|c.527T>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|4/9|c.527T>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|1/9|c.527T>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.527T>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.527T>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.527T>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.527T>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.527T>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.527T>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.527T>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.527T>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.527T>C||||||,C|3_prime_UTR_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|4/10|n.*159T>C|||||5803|,C|upstream_gene_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000497129|processed_transcript||n.-1T>C|||||89|,C|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|4/10|n.*159T>C||||||,C|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript|4/4|n.561T>C|||||| 22 44328821 . G A . . ANN=A|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|4/9|c.550G>A|p.Val184Met|723/2805|550/1446|184/481||,A|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|4/9|c.538G>A|p.Val180Met|647/2222|538/1434|180/477||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.550G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.550G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.550G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.550G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.550G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.550G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.550G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.550G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.550G>A||||||,A|3_prime_UTR_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|4/10|n.*182G>A|||||5826|,A|upstream_gene_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000497129|processed_transcript||n.-1G>A|||||66|,A|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|4/10|n.*182G>A||||||,A|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript|4/4|n.584G>A|||||| 22 44328832 . C T . . ANN=T|synonymous_variant|LOW|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|4/9|c.561C>T|p.Phe187Phe|734/2805|561/1446|187/481||,T|synonymous_variant|LOW|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|4/9|c.549C>T|p.Phe183Phe|658/2222|549/1434|183/477||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.561C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.561C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.561C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.561C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.561C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.561C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.561C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.561C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.561C>T||||||,T|3_prime_UTR_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|4/10|n.*193C>T|||||5837|,T|upstream_gene_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000497129|processed_transcript||n.-1C>T|||||55|,T|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|4/10|n.*193C>T||||||,T|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript|4/4|n.595C>T|||||| 22 44328870 . C T . . ANN=T|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|4/9|c.599C>T|p.Thr200Met|772/2805|599/1446|200/481||,T|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|4/9|c.587C>T|p.Thr196Met|696/2222|587/1434|196/477||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.599C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.599C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.599C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.599C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.599C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.599C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.599C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.599C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.599C>T||||||,T|3_prime_UTR_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|4/10|n.*231C>T|||||5875|,T|upstream_gene_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000497129|processed_transcript||n.-1C>T|||||17|,T|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|4/10|n.*231C>T||||||,T|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript|4/4|n.633C>T|||||| 22 44328930 . A G . . ANN=G|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|4/9|c.659A>G|p.Tyr220Cys|832/2805|659/1446|220/481||,G|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|4/9|c.647A>G|p.Tyr216Cys|756/2222|647/1434|216/477||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.659A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.659A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.659A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.659A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.659A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.659A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.659A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.659A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.659A>G||||||,G|3_prime_UTR_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|4/10|n.*291A>G|||||5935|,G|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|4/10|n.*291A>G||||||,G|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript|4/4|n.693A>G||||||,G|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000497129|processed_transcript|1/4|n.44A>G|||||| 22 44328939 . C T . . ANN=T|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|4/9|c.668C>T|p.Ser223Leu|841/2805|668/1446|223/481||,T|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|4/9|c.656C>T|p.Ser219Leu|765/2222|656/1434|219/477||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.668C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.668C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.668C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.668C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.668C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.668C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.668C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.668C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.668C>T||||||,T|3_prime_UTR_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|4/10|n.*300C>T|||||5944|,T|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|4/10|n.*300C>T||||||,T|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript|4/4|n.702C>T||||||,T|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000497129|processed_transcript|1/4|n.53C>T|||||| 22 44328950 . G A . . ANN=A|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|4/9|c.679G>A|p.Val227Ile|852/2805|679/1446|227/481||,A|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|4/9|c.667G>A|p.Val223Ile|776/2222|667/1434|223/477||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.679G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.679G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.679G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.679G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.679G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.679G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.679G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.679G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.679G>A||||||,A|3_prime_UTR_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|4/10|n.*311G>A|||||5955|,A|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|4/10|n.*311G>A||||||,A|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript|4/4|n.713G>A||||||,A|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000497129|processed_transcript|1/4|n.64G>A|||||| 22 44330464 . C T . . ANN=T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.697-22C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.697-22C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.697-22C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.697-22C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.697-22C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.697-22C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.697-22C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.697-22C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.697-22C>T||||||,T|downstream_gene_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript||n.*730C>T|||||1497|,T|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|4/8|c.697-22C>T||||||,T|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|4/9|n.*329-22C>T||||||,T|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|4/8|c.685-22C>T||||||,T|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000497129|processed_transcript|1/3|n.82-22C>T|||||| 22 44330474 . C G . . ANN=G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.697-12C>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.697-12C>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.697-12C>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.697-12C>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.697-12C>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.697-12C>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.697-12C>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.697-12C>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.697-12C>G||||||,G|downstream_gene_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript||n.*730C>G|||||1507|,G|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|4/8|c.697-12C>G||||||,G|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|4/9|n.*329-12C>G||||||,G|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|4/8|c.685-12C>G||||||,G|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000497129|processed_transcript|1/3|n.82-12C>G|||||| 22 44330481 . C A . . ANN=A|splice_region_variant&intron_variant|LOW|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|4/8|c.697-5C>A||||||,A|splice_region_variant&intron_variant|LOW|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|4/9|n.*329-5C>A||||||,A|splice_region_variant&intron_variant|LOW|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|4/8|c.685-5C>A||||||,A|splice_region_variant&intron_variant|LOW|PNPLA3|ENSG00000100344|transcript|ENST00000497129|processed_transcript|1/3|n.82-5C>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.697-5C>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.697-5C>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.697-5C>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.697-5C>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.697-5C>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.697-5C>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.697-5C>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.697-5C>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.697-5C>A||||||,A|downstream_gene_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript||n.*730C>A|||||1514| 22 44330574 . T C . . ANN=C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.757+28T>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.757+28T>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.757+28T>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.757+28T>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.757+28T>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.757+28T>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.757+28T>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.757+28T>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.757+28T>C||||||,C|downstream_gene_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript||n.*730T>C|||||1607|,C|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|5/8|c.757+28T>C||||||,C|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|5/9|n.*389+28T>C||||||,C|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|5/8|c.745+28T>C||||||,C|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000497129|processed_transcript|2/3|n.142+28T>C|||||| 22 44332888 . T TC . . ANN=C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.758-43_758-42insC||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.758-43_758-42insC||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.758-43_758-42insC||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.758-43_758-42insC||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.758-43_758-42insC||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.758-43_758-42insC||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.758-43_758-42insC||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.758-43_758-42insC||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.758-43_758-42insC||||||,C|downstream_gene_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript||n.*730_*730insC|||||3922|,C|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|5/8|c.758-40dupC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|5/9|n.*390-40dupC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|5/8|c.746-40dupC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000497129|processed_transcript|2/3|n.143-40dupC||||||INFO_REALIGN_3_PRIME 22 44332889 . C CA . . ANN=A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.758-42_758-41insA||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.758-42_758-41insA||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.758-42_758-41insA||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.758-42_758-41insA||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.758-42_758-41insA||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.758-42_758-41insA||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.758-42_758-41insA||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.758-42_758-41insA||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.758-42_758-41insA||||||,A|downstream_gene_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript||n.*730_*730insA|||||3923|,A|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|5/8|c.758-42_758-41insA||||||,A|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|5/9|n.*390-42_*390-41insA||||||,A|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|5/8|c.746-42_746-41insA||||||,A|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000497129|processed_transcript|2/3|n.143-42_143-41insA|||||| 22 44332890 . C CA . . ANN=A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.758-41_758-40insA||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.758-41_758-40insA||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.758-41_758-40insA||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.758-41_758-40insA||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.758-41_758-40insA||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.758-41_758-40insA||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.758-41_758-40insA||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.758-41_758-40insA||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.758-41_758-40insA||||||,A|downstream_gene_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript||n.*730_*730insA|||||3924|,A|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|5/8|c.758-41_758-40insA||||||,A|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|5/9|n.*390-41_*390-40insA||||||,A|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|5/8|c.746-41_746-40insA||||||,A|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000497129|processed_transcript|2/3|n.143-41_143-40insA|||||| 22 44332891 . C CA . . ANN=A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.758-40_758-39insA||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.758-40_758-39insA||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.758-40_758-39insA||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.758-40_758-39insA||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.758-40_758-39insA||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.758-40_758-39insA||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.758-40_758-39insA||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.758-40_758-39insA||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.758-40_758-39insA||||||,A|downstream_gene_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript||n.*730_*730insA|||||3925|,A|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|5/8|c.758-39dupA||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|5/9|n.*390-39dupA||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|5/8|c.746-39dupA||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000497129|processed_transcript|2/3|n.143-39dupA||||||INFO_REALIGN_3_PRIME 22 44332897 . C G . . ANN=G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.758-34C>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.758-34C>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.758-34C>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.758-34C>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.758-34C>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.758-34C>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.758-34C>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.758-34C>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.758-34C>G||||||,G|downstream_gene_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript||n.*730C>G|||||3930|,G|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|5/8|c.758-34C>G||||||,G|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|5/9|n.*390-34C>G||||||,G|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|5/8|c.746-34C>G||||||,G|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000497129|processed_transcript|2/3|n.143-34C>G|||||| 22 44332922 . C A . . ANN=A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.758-9C>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.758-9C>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.758-9C>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.758-9C>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.758-9C>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.758-9C>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.758-9C>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.758-9C>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.758-9C>A||||||,A|downstream_gene_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript||n.*730C>A|||||3955|,A|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|5/8|c.758-9C>A||||||,A|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|5/9|n.*390-9C>A||||||,A|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|5/8|c.746-9C>A||||||,A|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000497129|processed_transcript|2/3|n.143-9C>A|||||| 22 44332974 . A C . . ANN=C|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|6/9|c.801A>C|p.Glu267Asp|974/2805|801/1446|267/481||,C|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|6/9|c.789A>C|p.Glu263Asp|898/2222|789/1434|263/477||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.801A>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.801A>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.801A>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.801A>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.801A>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.801A>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.801A>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.801A>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.801A>C||||||,C|3_prime_UTR_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|6/10|n.*433A>C|||||9979|,C|downstream_gene_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript||n.*730A>C|||||4007|,C|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|6/10|n.*433A>C||||||,C|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000497129|processed_transcript|3/4|n.186A>C|||||| 22 44333034 . G A . . ANN=A|synonymous_variant|LOW|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|6/9|c.861G>A|p.Pro287Pro|1034/2805|861/1446|287/481||,A|synonymous_variant|LOW|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|6/9|c.849G>A|p.Pro283Pro|958/2222|849/1434|283/477||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.861G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.861G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.861G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.861G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.861G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.861G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.861G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.861G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.861G>A||||||,A|3_prime_UTR_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|6/10|n.*493G>A|||||10039|,A|downstream_gene_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript||n.*730G>A|||||4067|,A|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|6/10|n.*493G>A||||||,A|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000497129|processed_transcript|3/4|n.246G>A|||||| 22 44333039 . C T . . ANN=T|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|6/9|c.866C>T|p.Ser289Leu|1039/2805|866/1446|289/481||,T|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|6/9|c.854C>T|p.Ser285Leu|963/2222|854/1434|285/477||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.866C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.866C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.866C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.866C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.866C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.866C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.866C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.866C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.866C>T||||||,T|3_prime_UTR_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|6/10|n.*498C>T|||||10044|,T|downstream_gene_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript||n.*730C>T|||||4072|,T|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|6/10|n.*498C>T||||||,T|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000497129|processed_transcript|3/4|n.251C>T|||||| 22 44333046 . C T . . ANN=T|synonymous_variant|LOW|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|6/9|c.873C>T|p.Ala291Ala|1046/2805|873/1446|291/481||,T|synonymous_variant|LOW|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|6/9|c.861C>T|p.Ala287Ala|970/2222|861/1434|287/477||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.873C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.873C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.873C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.873C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.873C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.873C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.873C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.873C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.873C>T||||||,T|3_prime_UTR_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|6/10|n.*505C>T|||||10051|,T|downstream_gene_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript||n.*730C>T|||||4079|,T|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|6/10|n.*505C>T||||||,T|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000497129|processed_transcript|3/4|n.258C>T|||||| 22 44333131 . C T . . ANN=T|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|6/9|c.958C>T|p.Leu320Phe|1131/2805|958/1446|320/481||,T|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|6/9|c.946C>T|p.Leu316Phe|1055/2222|946/1434|316/477||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.958C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.958C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.958C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.958C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.958C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.958C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.958C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.958C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.958C>T||||||,T|3_prime_UTR_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|6/10|n.*590C>T|||||10136|,T|downstream_gene_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript||n.*730C>T|||||4164|,T|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|6/10|n.*590C>T||||||,T|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000497129|processed_transcript|3/4|n.343C>T|||||| 22 44333145 . C T . . ANN=T|synonymous_variant|LOW|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|6/9|c.972C>T|p.Leu324Leu|1145/2805|972/1446|324/481||,T|synonymous_variant|LOW|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|6/9|c.960C>T|p.Leu320Leu|1069/2222|960/1434|320/477||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.972C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.972C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.972C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.972C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.972C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.972C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.972C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.972C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.972C>T||||||,T|3_prime_UTR_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|6/10|n.*604C>T|||||10150|,T|downstream_gene_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript||n.*730C>T|||||4178|,T|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|6/10|n.*604C>T||||||,T|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000497129|processed_transcript|3/4|n.357C>T|||||| 22 44333146 . G A . . ANN=A|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|6/9|c.973G>A|p.Ala325Thr|1146/2805|973/1446|325/481||,A|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|6/9|c.961G>A|p.Ala321Thr|1070/2222|961/1434|321/477||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.973G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.973G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.973G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.973G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.973G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.973G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.973G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.973G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.973G>A||||||,A|3_prime_UTR_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|6/10|n.*605G>A|||||10151|,A|downstream_gene_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript||n.*730G>A|||||4179|,A|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|6/10|n.*605G>A||||||,A|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000497129|processed_transcript|3/4|n.358G>A|||||| 22 44333166 . G A . . ANN=A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.979+14G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.979+14G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.979+14G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.979+14G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.979+14G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.979+14G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.979+14G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.979+14G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.979+14G>A||||||,A|downstream_gene_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript||n.*730G>A|||||4199|,A|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|6/8|c.979+14G>A||||||,A|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|6/9|n.*611+14G>A||||||,A|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|6/8|c.967+14G>A||||||,A|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000497129|processed_transcript|3/3|n.364+14G>A|||||| 22 44333172 . A G . . ANN=G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.979+20A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.979+20A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.979+20A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.979+20A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.979+20A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.979+20A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.979+20A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.979+20A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.979+20A>G||||||,G|downstream_gene_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript||n.*730A>G|||||4205|,G|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|6/8|c.979+20A>G||||||,G|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|6/9|n.*611+20A>G||||||,G|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|6/8|c.967+20A>G||||||,G|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000497129|processed_transcript|3/3|n.364+20A>G|||||| 22 44333179 . G A . . ANN=A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.979+27G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.979+27G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.979+27G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.979+27G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.979+27G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.979+27G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.979+27G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.979+27G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.979+27G>A||||||,A|downstream_gene_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript||n.*730G>A|||||4212|,A|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|6/8|c.979+27G>A||||||,A|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|6/9|n.*611+27G>A||||||,A|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|6/8|c.967+27G>A||||||,A|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000497129|processed_transcript|3/3|n.364+27G>A|||||| 22 44335858 . A C . . ANN=C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.980-15A>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.980-15A>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.980-15A>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.980-15A>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.980-15A>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.980-15A>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.980-15A>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.980-15A>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.980-15A>C||||||,C|downstream_gene_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000497129|processed_transcript||n.*422A>C|||||585|,C|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|6/8|c.980-15A>C||||||,C|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|6/9|n.*612-15A>C||||||,C|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|6/8|c.968-15A>C|||||| 22 44335885 . A G . . ANN=G|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|7/9|c.992A>G|p.Glu331Gly|1165/2805|992/1446|331/481||,G|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|7/9|c.980A>G|p.Glu327Gly|1089/2222|980/1434|327/477||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.992A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.992A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.992A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.992A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.992A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.992A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.992A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.992A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.992A>G||||||,G|3_prime_UTR_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|7/10|n.*624A>G|||||12890|,G|downstream_gene_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000497129|processed_transcript||n.*422A>G|||||612|,G|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|7/10|n.*624A>G|||||| 22 44335962 . C T . . ANN=T|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|7/9|c.1069C>T|p.Pro357Ser|1242/2805|1069/1446|357/481||,T|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|7/9|c.1057C>T|p.Pro353Ser|1166/2222|1057/1434|353/477||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.1069C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.1069C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.1069C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.1069C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.1069C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.1069C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.1069C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.1069C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.1069C>T||||||,T|3_prime_UTR_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|7/10|n.*701C>T|||||12967|,T|downstream_gene_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000497129|processed_transcript||n.*422C>T|||||689|,T|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|7/10|n.*701C>T|||||| 22 44336019 . G A . . ANN=A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.1112+14G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.1112+14G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.1112+14G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.1112+14G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.1112+14G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.1112+14G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.1112+14G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.1112+14G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.1112+14G>A||||||,A|downstream_gene_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000497129|processed_transcript||n.*422G>A|||||746|,A|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|7/8|c.1112+14G>A||||||,A|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|7/9|n.*744+14G>A||||||,A|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|7/8|c.1100+14G>A|||||| 22 44336023 . C T . . ANN=T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.1112+18C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.1112+18C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.1112+18C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.1112+18C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.1112+18C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.1112+18C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.1112+18C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.1112+18C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.1112+18C>T||||||,T|downstream_gene_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000497129|processed_transcript||n.*422C>T|||||750|,T|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|7/8|c.1112+18C>T||||||,T|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|7/9|n.*744+18C>T||||||,T|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|7/8|c.1100+18C>T|||||| 22 44336030 . T A . . ANN=A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.1112+25T>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.1112+25T>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.1112+25T>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.1112+25T>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.1112+25T>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.1112+25T>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.1112+25T>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.1112+25T>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.1112+25T>A||||||,A|downstream_gene_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000497129|processed_transcript||n.*422T>A|||||757|,A|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|7/8|c.1112+25T>A||||||,A|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|7/9|n.*744+25T>A||||||,A|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|7/8|c.1100+25T>A|||||| 22 44340532 . C A . . ANN=A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.1113-39C>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.1113-39C>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.1113-39C>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.1113-39C>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.1113-39C>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.1113-39C>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.1113-39C>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.1113-39C>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.1113-39C>A||||||,A|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|7/8|c.1113-39C>A||||||,A|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|7/9|n.*745-39C>A||||||,A|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|7/8|c.1101-39C>A|||||| 22 44340560 . C T . . ANN=T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.1113-11C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.1113-11C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.1113-11C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.1113-11C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.1113-11C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.1113-11C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.1113-11C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.1113-11C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.1113-11C>T||||||,T|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|7/8|c.1113-11C>T||||||,T|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|7/9|n.*745-11C>T||||||,T|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|7/8|c.1101-11C>T|||||| 22 44340602 . G A . . ANN=A|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|8/9|c.1144G>A|p.Asp382Asn|1317/2805|1144/1446|382/481||,A|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|8/9|c.1132G>A|p.Asp378Asn|1241/2222|1132/1434|378/477||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.1144G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.1144G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.1144G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.1144G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.1144G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.1144G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.1144G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.1144G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.1144G>A||||||,A|3_prime_UTR_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|8/10|n.*776G>A|||||17607|,A|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|8/10|n.*776G>A|||||| 22 44340640 . C T . . ANN=T|synonymous_variant|LOW|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|8/9|c.1182C>T|p.Phe394Phe|1355/2805|1182/1446|394/481||,T|synonymous_variant|LOW|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|8/9|c.1170C>T|p.Phe390Phe|1279/2222|1170/1434|390/477||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.1182C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.1182C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.1182C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.1182C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.1182C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.1182C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.1182C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.1182C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.1182C>T||||||,T|3_prime_UTR_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|8/10|n.*814C>T|||||17645|,T|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|8/10|n.*814C>T|||||| 22 44340642 . C G . . ANN=G|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|8/9|c.1184C>G|p.Thr395Ser|1357/2805|1184/1446|395/481||,G|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|8/9|c.1172C>G|p.Thr391Ser|1281/2222|1172/1434|391/477||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.1184C>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.1184C>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.1184C>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.1184C>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.1184C>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.1184C>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.1184C>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.1184C>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.1184C>G||||||,G|3_prime_UTR_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|8/10|n.*816C>G|||||17647|,G|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|8/10|n.*816C>G|||||| 22 44340667 . C T . . ANN=T|synonymous_variant|LOW|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|8/9|c.1209C>T|p.Pro403Pro|1382/2805|1209/1446|403/481||,T|synonymous_variant|LOW|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|8/9|c.1197C>T|p.Pro399Pro|1306/2222|1197/1434|399/477||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.1209C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.1209C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.1209C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.1209C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.1209C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.1209C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.1209C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.1209C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.1209C>T||||||,T|3_prime_UTR_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|8/10|n.*841C>T|||||17672|,T|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|8/10|n.*841C>T|||||| 22 44340702 . G A . . ANN=A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.1217+27G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.1217+27G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.1217+27G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.1217+27G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.1217+27G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.1217+27G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.1217+27G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.1217+27G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.1217+27G>A||||||,A|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|8/8|c.1217+27G>A||||||,A|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|8/9|n.*849+27G>A||||||,A|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|8/8|c.1205+27G>A|||||| 22 44341986 . T C . . ANN=C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.1218-48T>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.1218-48T>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.1218-48T>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.1218-48T>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.1218-48T>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.1218-48T>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.1218-48T>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.1218-48T>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.1218-48T>C||||||,C|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|8/8|c.1218-48T>C||||||,C|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|8/9|n.*849+1311T>C||||||,C|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|8/8|c.1206-48T>C|||||| 22 44341994 . C T . . ANN=T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.1218-40C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.1218-40C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.1218-40C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.1218-40C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.1218-40C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.1218-40C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.1218-40C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.1218-40C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.1218-40C>T||||||,T|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|8/8|c.1218-40C>T||||||,T|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|8/9|n.*849+1319C>T||||||,T|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|8/8|c.1206-40C>T|||||| 22 44342001 . G A . . ANN=A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.1218-33G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.1218-33G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.1218-33G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.1218-33G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.1218-33G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.1218-33G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.1218-33G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.1218-33G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.1218-33G>A||||||,A|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|8/8|c.1218-33G>A||||||,A|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|8/9|n.*849+1326G>A||||||,A|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|8/8|c.1206-33G>A|||||| 22 44342033 . G A . . ANN=A|splice_acceptor_variant&intron_variant|HIGH|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|8/8|c.1218-1G>A||||||,A|splice_acceptor_variant&intron_variant|HIGH|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|8/8|c.1206-1G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.1218-1G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.1218-1G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.1218-1G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.1218-1G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.1218-1G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.1218-1G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.1218-1G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.1218-1G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.1218-1G>A||||||,A|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|8/9|n.*849+1358G>A||||||;LOF=(PNPLA3|ENSG00000100344|5|0.40) 22 44342038 . C A . . ANN=A|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|9/9|c.1222C>A|p.Gln408Lys|1395/2805|1222/1446|408/481||,A|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|9/9|c.1210C>A|p.Gln404Lys|1319/2222|1210/1434|404/477||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.1222C>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.1222C>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.1222C>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.1222C>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.1222C>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.1222C>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.1222C>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.1222C>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.1222C>A||||||,A|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|8/9|n.*849+1363C>A|||||| 22 44342116 . A G . . ANN=G|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|9/9|c.1300A>G|p.Lys434Glu|1473/2805|1300/1446|434/481||,G|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|9/9|c.1288A>G|p.Lys430Glu|1397/2222|1288/1434|430/477||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.1300A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.1300A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.1300A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.1300A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.1300A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.1300A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.1300A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.1300A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.1300A>G||||||,G|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|8/9|n.*849+1441A>G|||||| 22 44342146 . G A . . ANN=A|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|9/9|c.1330G>A|p.Ala444Thr|1503/2805|1330/1446|444/481||,A|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|9/9|c.1318G>A|p.Ala440Thr|1427/2222|1318/1434|440/477||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.1330G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.1330G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.1330G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.1330G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.1330G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.1330G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.1330G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.1330G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.1330G>A||||||,A|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|8/9|n.*849+1471G>A|||||| 22 44342153 . C T . . ANN=T|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|9/9|c.1337C>T|p.Pro446Leu|1510/2805|1337/1446|446/481||,T|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|9/9|c.1325C>T|p.Pro442Leu|1434/2222|1325/1434|442/477||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.1337C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.1337C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.1337C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.1337C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.1337C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.1337C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.1337C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.1337C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.1337C>T||||||,T|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|8/9|n.*849+1478C>T|||||| 22 44342180 . ACTT A . . ANN=|disruptive_inframe_deletion|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|9/9|c.1371_1373delCTT|p.Phe457del|1544/2805|1371/1446|457/481||INFO_REALIGN_3_PRIME,|disruptive_inframe_deletion|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|9/9|c.1359_1361delCTT|p.Phe453del|1468/2222|1359/1434|453/477||INFO_REALIGN_3_PRIME,|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.1365_1367delCTT||||||,|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.1365_1367delCTT||||||,|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.1365_1367delCTT||||||,|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.1365_1367delCTT||||||,|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.1365_1367delCTT||||||,|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.1365_1367delCTT||||||,|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.1365_1367delCTT||||||,|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.1365_1367delCTT||||||,|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.1365_1367delCTT||||||,|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|8/9|n.*849+1512_*849+1514delCTT||||||INFO_REALIGN_3_PRIME 22 44342269 . TGAG T . . ANN=|3_prime_UTR_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|9/9|c.*12_*14delAGG|||||12|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|9/9|c.*12_*14delAGG|||||12|INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|8/9|n.*849+1599_*849+1601delAGG||||||INFO_REALIGN_3_PRIME 22 44359149 . C T . . ANN=T|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|1/14|c.22-17C>T||||||,T|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|8/9|n.*850-17C>T||||||,T|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000493161|processed_transcript|2/6|n.314+43C>T||||||,T|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|1/13|c.-457-17C>T|||||| 22 44359151 . C G . . ANN=G|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|1/14|c.22-15C>G||||||,G|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|8/9|n.*850-15C>G||||||,G|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000493161|processed_transcript|2/6|n.314+45C>G||||||,G|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|1/13|c.-457-15C>G|||||| 22 44359218 . AAGC A . . ANN=|disruptive_inframe_deletion|MODERATE|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|2/15|c.75_77delAGC|p.Glu25_Ala26delinsAsp|232/1717|75/1410|25/469||,|5_prime_UTR_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|2/14|c.-404_-402delAGC|||||9965|,|3_prime_UTR_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|9/10|n.*903_*905delAGC|||||36224|,|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000493161|processed_transcript|2/6|n.314+113_314+115delAGC||||||,|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|9/10|n.*903_*905delAGC|||||| 22 44359246 . A G . . ANN=G|synonymous_variant|LOW|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|2/15|c.102A>G|p.Glu34Glu|259/1717|102/1410|34/469||,G|5_prime_UTR_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|2/14|c.-377A>G|||||9940|,G|3_prime_UTR_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|9/10|n.*930A>G|||||36251|,G|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000493161|processed_transcript|2/6|n.314+140A>G||||||,G|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|9/10|n.*930A>G|||||| 22 44359313 . G T . . ANN=T|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|2/14|c.132+37G>T||||||,T|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|9/9|n.*960+37G>T||||||,T|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000493161|processed_transcript|2/6|n.314+207G>T||||||,T|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|2/13|c.-347+37G>T|||||| 22 44360335 . G A . . ANN=A|missense_variant|MODERATE|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|3/15|c.136G>A|p.Val46Ile|293/1717|136/1410|46/469||,A|5_prime_UTR_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|3/14|c.-343G>A|||||8851|,A|3_prime_UTR_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|10/10|n.*964G>A|||||37340|,A|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|10/10|n.*964G>A||||||,A|non_coding_exon_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000493161|processed_transcript|3/7|n.318G>A|||||| 22 44364594 . C T . . ANN=T|downstream_gene_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay||n.*483C>T|||||4226|,T|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|3/14|c.235-17C>T||||||,T|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000493161|processed_transcript|3/6|n.417-17C>T||||||,T|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|3/13|c.-244-17C>T|||||| 22 44364596 . T C . . ANN=C|downstream_gene_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay||n.*483T>C|||||4228|,C|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|3/14|c.235-15T>C||||||,C|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000493161|processed_transcript|3/6|n.417-15T>C||||||,C|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|3/13|c.-244-15T>C|||||| 22 44364651 . G A . . ANN=A|missense_variant|MODERATE|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|4/15|c.275G>A|p.Arg92His|432/1717|275/1410|92/469||,A|5_prime_UTR_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|4/14|c.-204G>A|||||4535|,A|downstream_gene_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay||n.*483G>A|||||4283|,A|non_coding_exon_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000493161|processed_transcript|4/7|n.457G>A|||||| 22 44364708 . G T . . ANN=T|downstream_gene_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay||n.*483G>T|||||4340|,T|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|4/14|c.322+10G>T||||||,T|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000493161|processed_transcript|4/6|n.504+10G>T||||||,T|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|4/13|c.-157+10G>T|||||| 22 44368122 . A G . . ANN=G|missense_variant|MODERATE|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|5/15|c.329A>G|p.Asp110Gly|486/1717|329/1410|110/469||,G|upstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron||n.-1A>G|||||2353|,G|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|4/13|c.-156-674A>G||||||,G|non_coding_exon_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000493161|processed_transcript|5/7|n.511A>G|||||| 22 44368133 . A G . . ANN=G|missense_variant|MODERATE|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|5/15|c.340A>G|p.Asn114Asp|497/1717|340/1410|114/469||,G|upstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron||n.-1A>G|||||2342|,G|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|4/13|c.-156-663A>G||||||,G|non_coding_exon_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000493161|processed_transcript|5/7|n.522A>G|||||| 22 44368144 . C A . . ANN=A|missense_variant|MODERATE|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|5/15|c.351C>A|p.Asp117Glu|508/1717|351/1410|117/469||,A|upstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron||n.-1C>A|||||2331|,A|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|4/13|c.-156-652C>A||||||,A|non_coding_exon_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000493161|processed_transcript|5/7|n.533C>A|||||| 22 44368179 . C T . . ANN=T|missense_variant|MODERATE|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|5/15|c.386C>T|p.Thr129Met|543/1717|386/1410|129/469||,T|upstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron||n.-1C>T|||||2296|,T|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|4/13|c.-156-617C>T||||||,T|non_coding_exon_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000493161|processed_transcript|5/7|n.568C>T|||||| 22 44368204 . A G . . ANN=G|synonymous_variant|LOW|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|5/15|c.411A>G|p.Gly137Gly|568/1717|411/1410|137/469||,G|upstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron||n.-1A>G|||||2271|,G|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|4/13|c.-156-592A>G||||||,G|non_coding_exon_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000493161|processed_transcript|5/7|n.593A>G|||||| 22 44368728 . A AT . . ANN=T|upstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron||n.-1_-1insT|||||1746|,T|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|5/14|c.430-11dupT||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000493161|processed_transcript|5/6|n.612-11dupT||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|4/13|c.-156-56dupT||||||INFO_REALIGN_3_PRIME 22 44368740 . TC T . . ANN=|splice_region_variant&intron_variant|LOW|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|5/14|c.430-7delC||||||INFO_REALIGN_3_PRIME,|splice_region_variant&intron_variant|LOW|SAMM50|ENSG00000100347|transcript|ENST00000493161|processed_transcript|5/6|n.612-7delC||||||INFO_REALIGN_3_PRIME,|upstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron||n.-1delC|||||1734|,|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|4/13|c.-156-52delC||||||INFO_REALIGN_3_PRIME 22 44368741 . C T . . ANN=T|upstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron||n.-1C>T|||||1734|,T|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|5/14|c.430-10C>T||||||,T|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000493161|processed_transcript|5/6|n.612-10C>T||||||,T|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|4/13|c.-156-55C>T|||||| 22 44368865 . G A . . ANN=A|missense_variant|MODERATE|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|6/15|c.544G>A|p.Gly182Arg|701/1717|544/1410|182/469||,A|5_prime_UTR_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|5/14|c.-87G>A|||||321|,A|upstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron||n.-1G>A|||||1610|,A|non_coding_exon_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000493161|processed_transcript|6/7|n.726G>A|||||| 22 44368902 . T C . . ANN=C|upstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron||n.-1T>C|||||1573|,C|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|6/14|c.560+21T>C||||||,C|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000493161|processed_transcript|6/6|n.742+21T>C||||||,C|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|5/13|c.-71+21T>C|||||| 22 44368906 . G GTACAC . . ANN=TACAC|upstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron||n.-1_-1insTACAC|||||1568|,ACACT|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|6/14|c.560+27_560+31dupACACT||||||INFO_REALIGN_3_PRIME,ACACT|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000493161|processed_transcript|6/6|n.742+27_742+31dupACACT||||||INFO_REALIGN_3_PRIME,ACACT|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|5/13|c.-71+27_-71+31dupACACT||||||INFO_REALIGN_3_PRIME 22 44369176 . G A . . ANN=A|synonymous_variant|LOW|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|7/15|c.621G>A|p.Thr207Thr|778/1717|621/1410|207/469||,A|5_prime_UTR_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|6/14|c.-10G>A|||||10|,A|upstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron||n.-1G>A|||||1299|,A|non_coding_exon_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000493161|processed_transcript|7/7|n.803G>A|||||| 22 44369237 . G A . . ANN=A|upstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron||n.-1G>A|||||1238|,A|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000493161|processed_transcript||n.*829G>A|||||35|,A|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|7/14|c.648+34G>A||||||,A|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|6/13|c.18+34G>A|||||| 22 44371906 . C T . . ANN=T|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000493161|processed_transcript||n.*829C>T|||||2704|,T|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|7/14|c.649-29C>T||||||,T|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|6/13|c.19-29C>T||||||,T|non_coding_exon_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron|1/8|n.1432C>T|||||| 22 44371941 . A G . . ANN=G|missense_variant|MODERATE|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|8/15|c.655A>G|p.Ile219Val|812/1717|655/1410|219/469||,G|missense_variant|MODERATE|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|7/14|c.25A>G|p.Ile9Val|535/1432|25/780|9/259||,G|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000493161|processed_transcript||n.*829A>G|||||2739|,G|non_coding_exon_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron|1/8|n.1467A>G|||||| 22 44372008 . C T . . ANN=T|missense_variant|MODERATE|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|8/15|c.722C>T|p.Thr241Met|879/1717|722/1410|241/469||,T|missense_variant|MODERATE|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|7/14|c.92C>T|p.Thr31Met|602/1432|92/780|31/259||,T|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000493161|processed_transcript||n.*829C>T|||||2806|,T|non_coding_exon_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron|1/8|n.1534C>T|||||| 22 44372069 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|8/14|c.777+6G>A||||||,A|splice_region_variant&intron_variant|LOW|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|7/13|c.147+6G>A||||||,A|splice_region_variant&intron_variant|LOW|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron|1/7|n.1589+6G>A||||||,A|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000493161|processed_transcript||n.*829G>A|||||2867| 22 44372632 . C T . . ANN=T|splice_region_variant&synonymous_variant|LOW|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|9/15|c.780C>T|p.His260His|937/1717|780/1410|260/469||,T|splice_region_variant&synonymous_variant|LOW|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|8/14|c.150C>T|p.His50His|660/1432|150/780|50/259||,T|splice_region_variant&non_coding_exon_variant|LOW|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron|2/8|n.1592C>T||||||,T|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000493161|processed_transcript||n.*829C>T|||||3430| 22 44372652 . G A . . ANN=A|missense_variant|MODERATE|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|9/15|c.800G>A|p.Arg267Gln|957/1717|800/1410|267/469||,A|missense_variant|MODERATE|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|8/14|c.170G>A|p.Arg57Gln|680/1432|170/780|57/259||,A|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000493161|processed_transcript||n.*829G>A|||||3450|,A|non_coding_exon_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron|2/8|n.1612G>A|||||| 22 44372730 . A G . . ANN=G|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000493161|processed_transcript||n.*829A>G|||||3528|,G|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|9/14|c.849+29A>G||||||,G|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|8/13|c.219+29A>G||||||,G|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron|2/7|n.1661+29A>G|||||| 22 44373711 . G A . . ANN=A|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000493161|processed_transcript||n.*829G>A|||||4509|,A|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|9/14|c.850-41G>A||||||,A|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|8/13|c.220-41G>A||||||,A|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron|2/7|n.1662-41G>A|||||| 22 44373744 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|9/14|c.850-8C>T||||||,T|splice_region_variant&intron_variant|LOW|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|8/13|c.220-8C>T||||||,T|splice_region_variant&intron_variant|LOW|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron|2/7|n.1662-8C>T||||||,T|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000493161|processed_transcript||n.*829C>T|||||4542| 22 44373766 . C T . . ANN=T|synonymous_variant|LOW|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|10/15|c.864C>T|p.Tyr288Tyr|1021/1717|864/1410|288/469||,T|synonymous_variant|LOW|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|9/14|c.234C>T|p.Tyr78Tyr|744/1432|234/780|78/259||,T|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000493161|processed_transcript||n.*829C>T|||||4564|,T|non_coding_exon_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron|3/8|n.1676C>T|||||| 22 44373820 . G A . . ANN=A|synonymous_variant|LOW|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|10/15|c.918G>A|p.Lys306Lys|1075/1717|918/1410|306/469||,A|synonymous_variant|LOW|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|9/14|c.288G>A|p.Lys96Lys|798/1432|288/780|96/259||,A|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000493161|processed_transcript||n.*829G>A|||||4618|,A|non_coding_exon_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron|3/8|n.1730G>A|||||| 22 44377221 . G T . . ANN=T|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|10/14|c.937-50G>T||||||,T|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|9/13|c.307-50G>T||||||,T|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron|3/7|n.1749-50G>T|||||| 22 44377315 . T C . . ANN=C|synonymous_variant|LOW|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|11/15|c.981T>C|p.Gly327Gly|1138/1717|981/1410|327/469||,C|synonymous_variant|LOW|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|10/14|c.351T>C|p.Gly117Gly|861/1432|351/780|117/259||,C|upstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000494795|retained_intron||n.-1T>C|||||4909|,C|non_coding_exon_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron|4/8|n.1793T>C|||||| 22 44377391 . CT C . . ANN=|upstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000494795|retained_intron||n.-1delT|||||4832|,|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|11/14|c.1007+54delT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|10/13|c.377+54delT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron|4/7|n.1819+54delT||||||INFO_REALIGN_3_PRIME 22 44379822 . T C . . ANN=C|synonymous_variant|LOW|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|12/15|c.1017T>C|p.Leu339Leu|1174/1717|1017/1410|339/469||,C|synonymous_variant|LOW|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|11/14|c.387T>C|p.Leu129Leu|897/1432|387/780|129/259||,C|upstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000494795|retained_intron||n.-1T>C|||||2402|,C|non_coding_exon_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron|5/8|n.1829T>C|||||| 22 44379837 . C T . . ANN=T|synonymous_variant|LOW|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|12/15|c.1032C>T|p.Ser344Ser|1189/1717|1032/1410|344/469||,T|synonymous_variant|LOW|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|11/14|c.402C>T|p.Ser134Ser|912/1432|402/780|134/259||,T|upstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000494795|retained_intron||n.-1C>T|||||2387|,T|non_coding_exon_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron|5/8|n.1844C>T|||||| 22 44379838 . A G . . ANN=G|missense_variant|MODERATE|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|12/15|c.1033A>G|p.Ile345Val|1190/1717|1033/1410|345/469||,G|missense_variant|MODERATE|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|11/14|c.403A>G|p.Ile135Val|913/1432|403/780|135/259||,G|upstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000494795|retained_intron||n.-1A>G|||||2386|,G|non_coding_exon_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron|5/8|n.1845A>G|||||| 22 44379889 . T G . . ANN=G|upstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000494795|retained_intron||n.-1T>G|||||2335|,G|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|12/14|c.1075+9T>G||||||,G|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|11/13|c.445+9T>G||||||,G|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron|5/7|n.1887+9T>G|||||| 22 44379902 . C T . . ANN=T|upstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000494795|retained_intron||n.-1C>T|||||2322|,T|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|12/14|c.1075+22C>T||||||,T|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|11/13|c.445+22C>T||||||,T|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron|5/7|n.1887+22C>T|||||| 22 44379923 . G A . . ANN=A|upstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000494795|retained_intron||n.-1G>A|||||2301|,A|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|12/14|c.1075+43G>A||||||,A|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|11/13|c.445+43G>A||||||,A|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron|5/7|n.1887+43G>A|||||| 22 44385028 . C T . . ANN=T|synonymous_variant|LOW|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|13/15|c.1113C>T|p.Gly371Gly|1270/1717|1113/1410|371/469||,T|synonymous_variant|LOW|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|12/14|c.483C>T|p.Gly161Gly|993/1432|483/780|161/259||,T|upstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000465768|processed_transcript||n.-1C>T|||||1180|,T|non_coding_exon_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron|6/8|n.1925C>T||||||,T|non_coding_exon_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000494795|retained_intron|1/3|n.2805C>T|||||| 22 44385109 . C T . . ANN=T|synonymous_variant|LOW|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|13/15|c.1194C>T|p.Asn398Asn|1351/1717|1194/1410|398/469||,T|synonymous_variant|LOW|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|12/14|c.564C>T|p.Asn188Asn|1074/1432|564/780|188/259||,T|upstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000465768|processed_transcript||n.-1C>T|||||1099|,T|non_coding_exon_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron|6/8|n.2006C>T||||||,T|non_coding_exon_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000494795|retained_intron|1/3|n.2886C>T|||||| 22 44385148 . C T . . ANN=T|upstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000465768|processed_transcript||n.-1C>T|||||1060|,T|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|13/14|c.1222+11C>T||||||,T|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|12/13|c.592+11C>T||||||,T|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron|6/7|n.2034+11C>T||||||,T|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000494795|retained_intron|1/2|n.2914+11C>T|||||| 22 44386106 . CG C . . ANN=|upstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000465768|processed_transcript||n.-1delG|||||101|,|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|13/14|c.1223-36delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|12/13|c.593-36delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron|6/7|n.2035-36delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000494795|retained_intron|1/2|n.2915-36delG||||||INFO_REALIGN_3_PRIME 22 44386173 . G A . . ANN=A|synonymous_variant|LOW|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|14/15|c.1251G>A|p.Lys417Lys|1408/1717|1251/1410|417/469||,A|synonymous_variant|LOW|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|13/14|c.621G>A|p.Lys207Lys|1131/1432|621/780|207/259||,A|upstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000465768|processed_transcript||n.-1G>A|||||35|,A|non_coding_exon_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron|7/8|n.2063G>A||||||,A|non_coding_exon_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000494795|retained_intron|2/3|n.2943G>A|||||| 22 44386199 . A G . . ANN=G|missense_variant|MODERATE|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|14/15|c.1277A>G|p.Tyr426Cys|1434/1717|1277/1410|426/469||,G|missense_variant|MODERATE|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|13/14|c.647A>G|p.Tyr216Cys|1157/1432|647/780|216/259||,G|upstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000465768|processed_transcript||n.-1A>G|||||9|,G|non_coding_exon_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron|7/8|n.2089A>G||||||,G|non_coding_exon_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000494795|retained_intron|2/3|n.2969A>G|||||| 22 44386257 . C T . . ANN=T|synonymous_variant|LOW|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|14/15|c.1335C>T|p.Cys445Cys|1492/1717|1335/1410|445/469||,T|synonymous_variant|LOW|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|13/14|c.705C>T|p.Cys235Cys|1215/1432|705/780|235/259||,T|non_coding_exon_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron|7/8|n.2147C>T||||||,T|non_coding_exon_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000494795|retained_intron|2/3|n.3027C>T||||||,T|non_coding_exon_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000465768|processed_transcript|1/3|n.50C>T|||||| 22 44386281 . C T . . ANN=T|synonymous_variant|LOW|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|14/15|c.1359C>T|p.Gly453Gly|1516/1717|1359/1410|453/469||,T|synonymous_variant|LOW|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|13/14|c.729C>T|p.Gly243Gly|1239/1432|729/780|243/259||,T|upstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000493621|processed_transcript||n.-1C>T|||||4990|,T|non_coding_exon_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron|7/8|n.2171C>T||||||,T|non_coding_exon_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000494795|retained_intron|2/3|n.3051C>T||||||,T|non_coding_exon_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000465768|processed_transcript|1/3|n.74C>T|||||| 22 44386289 . A ACGTGTTGGGAATTATT . . ANN=CGTGTTGGGAATTATT|upstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000493621|processed_transcript||n.-1_-1insCGTGTTGGGAATTATT|||||4981|,CGTGTTGGGAATTATT|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|14/14|c.1364+4_1364+19dupCGTGTTGGGAATTATT||||||INFO_REALIGN_3_PRIME,CGTGTTGGGAATTATT|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|13/13|c.734+4_734+19dupCGTGTTGGGAATTATT||||||INFO_REALIGN_3_PRIME,CGTGTTGGGAATTATT|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron|7/7|n.2176+4_2176+19dupCGTGTTGGGAATTATT||||||INFO_REALIGN_3_PRIME,CGTGTTGGGAATTATT|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000494795|retained_intron|2/2|n.3056+4_3056+19dupCGTGTTGGGAATTATT||||||INFO_REALIGN_3_PRIME,CGTGTTGGGAATTATT|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000465768|processed_transcript|1/2|n.79+4_79+19dupCGTGTTGGGAATTATT||||||INFO_REALIGN_3_PRIME 22 44392169 . G C . . ANN=C|upstream_gene_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding||c.-131G>C|||||2922|,C|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|14/14|c.1365-49G>C||||||,C|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|13/13|c.735-49G>C||||||,C|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron|7/7|n.2177-49G>C||||||,C|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000494795|retained_intron|2/2|n.3057-49G>C||||||,C|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000465768|processed_transcript|1/2|n.79+5883G>C||||||,C|non_coding_exon_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000493621|processed_transcript|2/2|n.196G>C|||||| 22 44392187 . C T . . ANN=T|upstream_gene_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding||c.-131C>T|||||2904|,T|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|14/14|c.1365-31C>T||||||,T|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|13/13|c.735-31C>T||||||,T|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron|7/7|n.2177-31C>T||||||,T|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000494795|retained_intron|2/2|n.3057-31C>T||||||,T|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000465768|processed_transcript|1/2|n.79+5901C>T||||||,T|non_coding_exon_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000493621|processed_transcript|2/2|n.214C>T|||||| 22 44392207 . C T . . ANN=T|upstream_gene_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding||c.-131C>T|||||2884|,T|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|14/14|c.1365-11C>T||||||,T|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|13/13|c.735-11C>T||||||,T|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron|7/7|n.2177-11C>T||||||,T|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000494795|retained_intron|2/2|n.3057-11C>T||||||,T|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000465768|processed_transcript|1/2|n.79+5921C>T||||||,T|non_coding_exon_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000493621|processed_transcript|2/2|n.234C>T|||||| 22 44395212 . T C . . ANN=C|5_prime_UTR_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|1/14|c.-9T>C|||||9|,C|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding||c.*1567T>C|||||2799|,C|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding||c.*1290T>C|||||2807|,C|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron||n.*2368T>C|||||2803|,C|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000494795|retained_intron||n.*3248T>C|||||2803|,C|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000493621|processed_transcript||n.*283T>C|||||2956|,C|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000465768|processed_transcript|1/2|n.79+8926T>C|||||| 22 44395283 . C G . . ANN=G|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|1/14|c.63C>G|p.Asn21Lys|193/1569|63/1194|21/397||,G|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding||c.*1567C>G|||||2870|,G|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding||c.*1290C>G|||||2878|,G|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron||n.*2368C>G|||||2874|,G|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000494795|retained_intron||n.*3248C>G|||||2874|,G|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000493621|processed_transcript||n.*283C>G|||||3027|,G|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000465768|processed_transcript|1/2|n.79+8997C>G|||||| 22 44395429 . G T . . ANN=T|synonymous_variant|LOW|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|2/14|c.87G>T|p.Leu29Leu|217/1569|87/1194|29/397||,T|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding||c.*1567G>T|||||3016|,T|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding||c.*1290G>T|||||3024|,T|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron||n.*2368G>T|||||3020|,T|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000494795|retained_intron||n.*3248G>T|||||3020|,T|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000493621|processed_transcript||n.*283G>T|||||3173|,T|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000465768|processed_transcript|1/2|n.79+9143G>T|||||| 22 44395434 . G A . . ANN=A|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|2/14|c.92G>A|p.Arg31His|222/1569|92/1194|31/397||,A|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding||c.*1567G>A|||||3021|,A|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding||c.*1290G>A|||||3029|,A|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron||n.*2368G>A|||||3025|,A|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000494795|retained_intron||n.*3248G>A|||||3025|,A|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000493621|processed_transcript||n.*283G>A|||||3178|,A|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000465768|processed_transcript|1/2|n.79+9148G>A|||||| 22 44395451 . T C . . ANN=C|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|2/14|c.109T>C|p.Trp37Arg|239/1569|109/1194|37/397||,C|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding||c.*1567T>C|||||3038|,C|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding||c.*1290T>C|||||3046|,C|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron||n.*2368T>C|||||3042|,C|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000494795|retained_intron||n.*3248T>C|||||3042|,C|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000493621|processed_transcript||n.*283T>C|||||3195|,C|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000465768|processed_transcript|1/2|n.79+9165T>C|||||| 22 44395540 . T C . . ANN=C|synonymous_variant|LOW|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|2/14|c.198T>C|p.Tyr66Tyr|328/1569|198/1194|66/397||,C|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding||c.*1567T>C|||||3127|,C|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding||c.*1290T>C|||||3135|,C|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron||n.*2368T>C|||||3131|,C|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000494795|retained_intron||n.*3248T>C|||||3131|,C|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000493621|processed_transcript||n.*283T>C|||||3284|,C|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000465768|processed_transcript|1/2|n.79+9254T>C|||||| 22 44489815 . C A . . ANN=A|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|3/14|c.219C>A|p.Asp73Glu|349/1569|219/1194|73/397||,A|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|2/13|c.120C>A|p.Asp40Glu|183/5429|120/1095|40/364||,A|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000444029|protein_coding|3/7|c.114C>A|p.Asp38Glu|273/742|114/583|38/193||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|2/13|c.9C>A|p.Asp3Glu|110/1591|9/984|3/327||,A|non_coding_exon_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000402876|processed_transcript|2/5|n.158C>A||||||,A|non_coding_exon_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000477795|processed_transcript|3/4|n.517C>A|||||| 22 44489850 . C G,T . . ANN=G|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|3/14|c.254C>G|p.Pro85Arg|384/1569|254/1194|85/397||,T|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|3/14|c.254C>T|p.Pro85Leu|384/1569|254/1194|85/397||,G|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|2/13|c.155C>G|p.Pro52Arg|218/5429|155/1095|52/364||,T|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|2/13|c.155C>T|p.Pro52Leu|218/5429|155/1095|52/364||,G|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000444029|protein_coding|3/7|c.149C>G|p.Pro50Arg|308/742|149/583|50/193||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000444029|protein_coding|3/7|c.149C>T|p.Pro50Leu|308/742|149/583|50/193||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|2/13|c.44C>G|p.Pro15Arg|145/1591|44/984|15/327||,T|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|2/13|c.44C>T|p.Pro15Leu|145/1591|44/984|15/327||,G|non_coding_exon_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000402876|processed_transcript|2/5|n.193C>G||||||,T|non_coding_exon_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000402876|processed_transcript|2/5|n.193C>T||||||,G|non_coding_exon_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000477795|processed_transcript|3/4|n.552C>G||||||,T|non_coding_exon_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000477795|processed_transcript|3/4|n.552C>T|||||| 22 44489868 . T C . . ANN=C|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|3/14|c.272T>C|p.Val91Ala|402/1569|272/1194|91/397||,C|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|2/13|c.173T>C|p.Val58Ala|236/5429|173/1095|58/364||,C|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000444029|protein_coding|3/7|c.167T>C|p.Val56Ala|326/742|167/583|56/193||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|2/13|c.62T>C|p.Val21Ala|163/1591|62/984|21/327||,C|non_coding_exon_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000402876|processed_transcript|2/5|n.211T>C||||||,C|non_coding_exon_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000477795|processed_transcript|3/4|n.570T>C|||||| 22 44489871 . A T . . ANN=T|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|3/14|c.275A>T|p.Asp92Val|405/1569|275/1194|92/397||,T|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|2/13|c.176A>T|p.Asp59Val|239/5429|176/1095|59/364||,T|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000444029|protein_coding|3/7|c.170A>T|p.Asp57Val|329/742|170/583|57/193||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|2/13|c.65A>T|p.Asp22Val|166/1591|65/984|22/327||,T|non_coding_exon_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000402876|processed_transcript|2/5|n.214A>T||||||,T|non_coding_exon_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000477795|processed_transcript|3/4|n.573A>T|||||| 22 44489896 . T C . . ANN=C|splice_region_variant&synonymous_variant|LOW|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|3/14|c.300T>C|p.Leu100Leu|430/1569|300/1194|100/397||,C|splice_region_variant&synonymous_variant|LOW|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|2/13|c.201T>C|p.Leu67Leu|264/5429|201/1095|67/364||,C|splice_region_variant&non_coding_exon_variant|LOW|PARVB|ENSG00000188677|transcript|ENST00000402876|processed_transcript|2/5|n.239T>C||||||,C|splice_region_variant&synonymous_variant|LOW|PARVB|ENSG00000188677|transcript|ENST00000444029|protein_coding|3/7|c.195T>C|p.Leu65Leu|354/742|195/583|65/193||WARNING_TRANSCRIPT_INCOMPLETE,C|splice_region_variant&synonymous_variant|LOW|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|2/13|c.90T>C|p.Leu30Leu|191/1591|90/984|30/327||,C|splice_region_variant&non_coding_exon_variant|LOW|PARVB|ENSG00000188677|transcript|ENST00000477795|processed_transcript|3/4|n.598T>C|||||| 22 44489942 . C T . . ANN=T|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|3/13|c.301+45C>T||||||,T|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|2/12|c.202+45C>T||||||,T|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000402876|processed_transcript|2/4|n.240+45C>T||||||,T|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000444029|protein_coding|3/6|c.196+45C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|2/12|c.91+45C>T||||||,T|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000477795|processed_transcript|3/3|n.599+45C>T|||||| 22 44495908 . C T . . ANN=T|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|3/13|c.302-25C>T||||||,T|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|2/12|c.203-25C>T||||||,T|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000402876|processed_transcript|2/4|n.241-25C>T||||||,T|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000444029|protein_coding|3/6|c.197-25C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|2/12|c.92-25C>T||||||,T|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000477795|processed_transcript|3/3|n.600-25C>T|||||| 22 44495940 . C T . . ANN=T|synonymous_variant|LOW|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|4/14|c.309C>T|p.Asn103Asn|439/1569|309/1194|103/397||,T|synonymous_variant|LOW|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|3/13|c.210C>T|p.Asn70Asn|273/5429|210/1095|70/364||,T|synonymous_variant|LOW|PARVB|ENSG00000188677|transcript|ENST00000444029|protein_coding|4/7|c.204C>T|p.Asn68Asn|363/742|204/583|68/193||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|3/13|c.99C>T|p.Asn33Asn|200/1591|99/984|33/327||,T|non_coding_exon_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000402876|processed_transcript|3/5|n.248C>T||||||,T|non_coding_exon_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000477795|processed_transcript|4/4|n.607C>T|||||| 22 44495951 . C G,T . . ANN=G|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|4/14|c.320C>G|p.Thr107Arg|450/1569|320/1194|107/397||,T|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|4/14|c.320C>T|p.Thr107Met|450/1569|320/1194|107/397||,G|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|3/13|c.221C>G|p.Thr74Arg|284/5429|221/1095|74/364||,T|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|3/13|c.221C>T|p.Thr74Met|284/5429|221/1095|74/364||,G|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000444029|protein_coding|4/7|c.215C>G|p.Thr72Arg|374/742|215/583|72/193||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000444029|protein_coding|4/7|c.215C>T|p.Thr72Met|374/742|215/583|72/193||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|3/13|c.110C>G|p.Thr37Arg|211/1591|110/984|37/327||,T|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|3/13|c.110C>T|p.Thr37Met|211/1591|110/984|37/327||,G|non_coding_exon_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000402876|processed_transcript|3/5|n.259C>G||||||,T|non_coding_exon_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000402876|processed_transcript|3/5|n.259C>T||||||,G|non_coding_exon_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000477795|processed_transcript|4/4|n.618C>G||||||,T|non_coding_exon_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000477795|processed_transcript|4/4|n.618C>T|||||| 22 44495952 . G C . . ANN=C|synonymous_variant|LOW|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|4/14|c.321G>C|p.Thr107Thr|451/1569|321/1194|107/397||,C|synonymous_variant|LOW|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|3/13|c.222G>C|p.Thr74Thr|285/5429|222/1095|74/364||,C|synonymous_variant|LOW|PARVB|ENSG00000188677|transcript|ENST00000444029|protein_coding|4/7|c.216G>C|p.Thr72Thr|375/742|216/583|72/193||WARNING_TRANSCRIPT_INCOMPLETE,C|synonymous_variant|LOW|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|3/13|c.111G>C|p.Thr37Thr|212/1591|111/984|37/327||,C|non_coding_exon_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000402876|processed_transcript|3/5|n.260G>C||||||,C|non_coding_exon_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000477795|processed_transcript|4/4|n.619G>C|||||| 22 44495953 . A G . . ANN=G|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|4/14|c.322A>G|p.Met108Val|452/1569|322/1194|108/397||,G|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|3/13|c.223A>G|p.Met75Val|286/5429|223/1095|75/364||,G|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000444029|protein_coding|4/7|c.217A>G|p.Met73Val|376/742|217/583|73/193||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|3/13|c.112A>G|p.Met38Val|213/1591|112/984|38/327||,G|non_coding_exon_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000402876|processed_transcript|3/5|n.261A>G||||||,G|non_coding_exon_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000477795|processed_transcript|4/4|n.620A>G|||||| 22 44495983 . A G . . ANN=G|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|4/14|c.352A>G|p.Lys118Glu|482/1569|352/1194|118/397||,G|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|3/13|c.253A>G|p.Lys85Glu|316/5429|253/1095|85/364||,G|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000444029|protein_coding|4/7|c.247A>G|p.Lys83Glu|406/742|247/583|83/193||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|3/13|c.142A>G|p.Lys48Glu|243/1591|142/984|48/327||,G|downstream_gene_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000477795|processed_transcript||n.*636A>G|||||14|,G|non_coding_exon_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000402876|processed_transcript|3/5|n.291A>G|||||| 22 44496016 . G A . . ANN=A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|5/14|c.372+13G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|7/14|c.372+13G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|4/14|c.372+13G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|6/14|c.372+13G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|4/13|c.273+13G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|6/13|c.273+13G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|3/13|c.273+13G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|5/13|c.273+13G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|4/13|c.162+13G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|6/13|c.162+13G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|3/13|c.162+13G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|5/13|c.162+13G>A||||||,A|downstream_gene_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000477795|processed_transcript||n.*636G>A|||||47|,A|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|4/13|c.372+13G>A||||||,A|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|3/12|c.273+13G>A||||||,A|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000402876|processed_transcript|3/4|n.311+13G>A||||||,A|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000444029|protein_coding|4/6|c.267+13G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|3/12|c.162+13G>A|||||| 22 44496043 . C T . . ANN=T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|5/14|c.372+40C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|7/14|c.372+40C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|4/14|c.372+40C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|6/14|c.372+40C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|4/13|c.273+40C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|6/13|c.273+40C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|3/13|c.273+40C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|5/13|c.273+40C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|4/13|c.162+40C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|6/13|c.162+40C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|3/13|c.162+40C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|5/13|c.162+40C>T||||||,T|downstream_gene_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000477795|processed_transcript||n.*636C>T|||||74|,T|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|4/13|c.372+40C>T||||||,T|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|3/12|c.273+40C>T||||||,T|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000402876|processed_transcript|3/4|n.311+40C>T||||||,T|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000444029|protein_coding|4/6|c.267+40C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|3/12|c.162+40C>T|||||| 22 44514941 . C T . . ANN=T|synonymous_variant|LOW|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|5/14|c.396C>T|p.Asp132Asp|526/1569|396/1194|132/397||,T|synonymous_variant|LOW|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|4/13|c.297C>T|p.Asp99Asp|360/5429|297/1095|99/364||,T|synonymous_variant|LOW|PARVB|ENSG00000188677|transcript|ENST00000444029|protein_coding|5/7|c.291C>T|p.Asp97Asp|450/742|291/583|97/193||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|4/13|c.186C>T|p.Asp62Asp|287/1591|186/984|62/327||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|5/14|c.396C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|7/14|c.396C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|4/14|c.396C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|6/14|c.396C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|4/13|c.297C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|6/13|c.297C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|3/13|c.297C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|5/13|c.297C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|4/13|c.186C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|6/13|c.186C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|3/13|c.186C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|5/13|c.186C>T||||||,T|non_coding_exon_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000402876|processed_transcript|4/5|n.335C>T|||||| 22 44514974 . G T . . ANN=T|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|5/14|c.429G>T|p.Gln143His|559/1569|429/1194|143/397||,T|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|4/13|c.330G>T|p.Gln110His|393/5429|330/1095|110/364||,T|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000444029|protein_coding|5/7|c.324G>T|p.Gln108His|483/742|324/583|108/193||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|4/13|c.219G>T|p.Gln73His|320/1591|219/984|73/327||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|5/14|c.429G>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|7/14|c.429G>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|4/14|c.429G>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|6/14|c.429G>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|4/13|c.330G>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|6/13|c.330G>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|3/13|c.330G>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|5/13|c.330G>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|4/13|c.219G>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|6/13|c.219G>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|3/13|c.219G>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|5/13|c.219G>T||||||,T|non_coding_exon_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000402876|processed_transcript|4/5|n.368G>T|||||| 22 44514995 . C T . . ANN=T|synonymous_variant|LOW|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|5/14|c.450C>T|p.Asp150Asp|580/1569|450/1194|150/397||,T|synonymous_variant|LOW|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|4/13|c.351C>T|p.Asp117Asp|414/5429|351/1095|117/364||,T|synonymous_variant|LOW|PARVB|ENSG00000188677|transcript|ENST00000444029|protein_coding|5/7|c.345C>T|p.Asp115Asp|504/742|345/583|115/193||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|4/13|c.240C>T|p.Asp80Asp|341/1591|240/984|80/327||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|5/14|c.450C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|7/14|c.450C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|4/14|c.450C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|6/14|c.450C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|4/13|c.351C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|6/13|c.351C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|3/13|c.351C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|5/13|c.351C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|4/13|c.240C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|6/13|c.240C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|3/13|c.240C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|5/13|c.240C>T||||||,T|non_coding_exon_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000402876|processed_transcript|4/5|n.389C>T|||||| 22 44527414 . G A . . ANN=A|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|6/14|c.523G>A|p.Glu175Lys|653/1569|523/1194|175/397||,A|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|5/13|c.424G>A|p.Glu142Lys|487/5429|424/1095|142/364||,A|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000444029|protein_coding|6/7|c.418G>A|p.Glu140Lys|577/742|418/583|140/193||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|5/13|c.313G>A|p.Glu105Lys|414/1591|313/984|105/327||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|5/14|c.523G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|7/14|c.523G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|4/14|c.523G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|6/14|c.523G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|4/13|c.424G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|6/13|c.424G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|3/13|c.424G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|5/13|c.424G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|4/13|c.313G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|6/13|c.313G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|3/13|c.313G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|5/13|c.313G>A||||||,A|upstream_gene_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000495824|processed_transcript||n.-1G>A|||||4930| 22 44527489 . C T . . ANN=T|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|6/14|c.598C>T|p.Leu200Phe|728/1569|598/1194|200/397||,T|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|5/13|c.499C>T|p.Leu167Phe|562/5429|499/1095|167/364||,T|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000444029|protein_coding|6/7|c.493C>T|p.Leu165Phe|652/742|493/583|165/193||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|5/13|c.388C>T|p.Leu130Phe|489/1591|388/984|130/327||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|5/14|c.598C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|7/14|c.598C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|4/14|c.598C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|6/14|c.598C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|4/13|c.499C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|6/13|c.499C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|3/13|c.499C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|5/13|c.499C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|4/13|c.388C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|6/13|c.388C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|3/13|c.388C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|5/13|c.388C>T||||||,T|upstream_gene_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000495824|processed_transcript||n.-1C>T|||||4855| 22 44527548 . G A . . ANN=A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|5/14|c.616+41G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|7/14|c.616+41G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|4/14|c.616+41G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|6/14|c.616+41G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|4/13|c.517+41G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|6/13|c.517+41G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|3/13|c.517+41G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|5/13|c.517+41G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|4/13|c.406+41G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|6/13|c.406+41G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|3/13|c.406+41G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|5/13|c.406+41G>A||||||,A|upstream_gene_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000495824|processed_transcript||n.-1G>A|||||4796|,A|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|6/13|c.616+41G>A||||||,A|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|5/12|c.517+41G>A||||||,A|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000444029|protein_coding|6/6|c.511+41G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|5/12|c.406+41G>A|||||| 22 44527551 . C T . . ANN=T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|5/14|c.616+44C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|7/14|c.616+44C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|4/14|c.616+44C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|6/14|c.616+44C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|4/13|c.517+44C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|6/13|c.517+44C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|3/13|c.517+44C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|5/13|c.517+44C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|4/13|c.406+44C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|6/13|c.406+44C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|3/13|c.406+44C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|5/13|c.406+44C>T||||||,T|upstream_gene_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000495824|processed_transcript||n.-1C>T|||||4793|,T|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|6/13|c.616+44C>T||||||,T|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|5/12|c.517+44C>T||||||,T|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000444029|protein_coding|6/6|c.511+44C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|5/12|c.406+44C>T|||||| 22 44528736 . CT C . . ANN=|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|5/14|c.617-37delT||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|7/14|c.617-37delT||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|4/14|c.617-37delT||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|6/14|c.617-37delT||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|4/13|c.518-37delT||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|6/13|c.518-37delT||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|3/13|c.518-37delT||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|5/13|c.518-37delT||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|4/13|c.407-37delT||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|6/13|c.407-37delT||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|3/13|c.407-37delT||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|5/13|c.407-37delT||||||,|upstream_gene_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000495824|processed_transcript||n.-1delT|||||3607|,|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|6/13|c.617-37delT||||||,|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|5/12|c.518-37delT||||||,|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000444029|protein_coding|6/6|c.512-37delT||||||WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|5/12|c.407-37delT|||||| 22 44528781 . C T . . ANN=T|synonymous_variant|LOW|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|7/14|c.624C>T|p.His208His|754/1569|624/1194|208/397||,T|synonymous_variant|LOW|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|6/13|c.525C>T|p.His175His|588/5429|525/1095|175/364||,T|synonymous_variant|LOW|PARVB|ENSG00000188677|transcript|ENST00000444029|protein_coding|7/7|c.519C>T|p.His173His|678/742|519/583|173/193||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|6/13|c.414C>T|p.His138His|515/1591|414/984|138/327||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|5/14|c.624C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|7/14|c.624C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|4/14|c.624C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|6/14|c.624C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|4/13|c.525C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|6/13|c.525C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|3/13|c.525C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|5/13|c.525C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|4/13|c.414C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|6/13|c.414C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|3/13|c.414C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|5/13|c.414C>T||||||,T|upstream_gene_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000495824|processed_transcript||n.-1C>T|||||3563| 22 44528826 . C T . . ANN=T|synonymous_variant|LOW|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|7/14|c.669C>T|p.Ala223Ala|799/1569|669/1194|223/397||,T|synonymous_variant|LOW|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|6/13|c.570C>T|p.Ala190Ala|633/5429|570/1095|190/364||,T|synonymous_variant|LOW|PARVB|ENSG00000188677|transcript|ENST00000444029|protein_coding|7/7|c.564C>T|p.Ala188Ala|723/742|564/583|188/193||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|6/13|c.459C>T|p.Ala153Ala|560/1591|459/984|153/327||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|5/14|c.669C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|7/14|c.669C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|4/14|c.669C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|6/14|c.669C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|4/13|c.570C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|6/13|c.570C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|3/13|c.570C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|5/13|c.570C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|4/13|c.459C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|6/13|c.459C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|3/13|c.459C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|5/13|c.459C>T||||||,T|upstream_gene_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000495824|processed_transcript||n.-1C>T|||||3518| 22 44532306 . G A . . ANN=A|upstream_gene_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000495824|processed_transcript||n.-1G>A|||||38|,A|downstream_gene_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000444029|protein_coding||c.*742G>A|||||3461|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|7/13|c.733-34G>A||||||,A|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|6/12|c.634-34G>A||||||,A|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|6/12|c.523-34G>A|||||| 22 44532421 . C T . . ANN=T|downstream_gene_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000444029|protein_coding||c.*742C>T|||||3576|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|8/13|c.791+23C>T||||||,T|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|7/12|c.692+23C>T||||||,T|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|7/12|c.581+23C>T||||||,T|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000495824|processed_transcript|1/1|n.55+23C>T|||||| 22 44532430 . C T . . ANN=T|downstream_gene_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000444029|protein_coding||c.*742C>T|||||3585|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|8/13|c.791+32C>T||||||,T|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|7/12|c.692+32C>T||||||,T|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|7/12|c.581+32C>T||||||,T|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000495824|processed_transcript|1/1|n.55+32C>T|||||| 22 44535956 . T C . . ANN=C|downstream_gene_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000495824|processed_transcript||n.*196T>C|||||952|,C|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|8/13|c.792-48T>C||||||,C|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|7/12|c.693-48T>C||||||,C|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|7/12|c.582-48T>C|||||| 22 44536003 . G T . . ANN=T|splice_acceptor_variant&intron_variant|HIGH|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|8/13|c.792-1G>T||||||,T|splice_acceptor_variant&intron_variant|HIGH|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|7/12|c.693-1G>T||||||,T|splice_acceptor_variant&intron_variant|HIGH|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|7/12|c.582-1G>T||||||,T|downstream_gene_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000495824|processed_transcript||n.*196G>T|||||999|;LOF=(PARVB|ENSG00000188677|9|0.33) 22 44536017 . C A . . ANN=A|synonymous_variant|LOW|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|9/14|c.805C>A|p.Arg269Arg|935/1569|805/1194|269/397||,A|synonymous_variant|LOW|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|8/13|c.706C>A|p.Arg236Arg|769/5429|706/1095|236/364||,A|synonymous_variant|LOW|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|8/13|c.595C>A|p.Arg199Arg|696/1591|595/984|199/327||,A|downstream_gene_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000495824|processed_transcript||n.*196C>A|||||1013| 22 44536045 . G A . . ANN=A|downstream_gene_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000495824|processed_transcript||n.*196G>A|||||1041|,A|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|9/13|c.811+22G>A||||||,A|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|8/12|c.712+22G>A||||||,A|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|8/12|c.601+22G>A|||||| 22 44543709 . G A . . ANN=A|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|9/13|c.812-32G>A||||||,A|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|8/12|c.713-32G>A||||||,A|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|8/12|c.602-32G>A|||||| 22 44543721 . C T . . ANN=T|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|9/13|c.812-20C>T||||||,T|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|8/12|c.713-20C>T||||||,T|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|8/12|c.602-20C>T|||||| 22 44543766 . C T . . ANN=T|synonymous_variant|LOW|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|10/14|c.837C>T|p.Phe279Phe|967/1569|837/1194|279/397||,T|synonymous_variant|LOW|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|9/13|c.738C>T|p.Phe246Phe|801/5429|738/1095|246/364||,T|synonymous_variant|LOW|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|9/13|c.627C>T|p.Phe209Phe|728/1591|627/984|209/327||,T|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000406477|protein_coding|10/14|c.837C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000338758|protein_coding|9/13|c.738C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000404989|protein_coding|9/13|c.627C>T|||||| 22 44547322 . C T . . ANN=T|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000406477|protein_coding|10/14|c.874-41C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000406477|protein_coding|11/14|c.874-41C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|12/14|c.874-41C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|14/14|c.874-41C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|10/14|c.874-41C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|13/14|c.874-41C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|11/14|c.874-41C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000338758|protein_coding|9/13|c.775-41C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000338758|protein_coding|10/13|c.775-41C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|13/13|c.775-41C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|11/13|c.775-41C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|9/13|c.775-41C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|12/13|c.775-41C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|10/13|c.775-41C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000404989|protein_coding|9/13|c.664-41C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000404989|protein_coding|10/13|c.664-41C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|11/13|c.664-41C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|9/13|c.664-41C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|12/13|c.664-41C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|13/13|c.664-41C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|10/13|c.664-41C>T||||||,T|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|10/13|c.874-41C>T||||||,T|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|9/12|c.775-41C>T||||||,T|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|9/12|c.664-41C>T|||||| 22 44547335 . G A . . ANN=A|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000406477|protein_coding|10/14|c.874-28G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000406477|protein_coding|11/14|c.874-28G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|12/14|c.874-28G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|14/14|c.874-28G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|10/14|c.874-28G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|13/14|c.874-28G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|11/14|c.874-28G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000338758|protein_coding|9/13|c.775-28G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000338758|protein_coding|10/13|c.775-28G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|13/13|c.775-28G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|11/13|c.775-28G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|9/13|c.775-28G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|12/13|c.775-28G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|10/13|c.775-28G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000404989|protein_coding|9/13|c.664-28G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000404989|protein_coding|10/13|c.664-28G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|11/13|c.664-28G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|9/13|c.664-28G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|12/13|c.664-28G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|13/13|c.664-28G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|10/13|c.664-28G>A||||||,A|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|10/13|c.874-28G>A||||||,A|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|9/12|c.775-28G>A||||||,A|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|9/12|c.664-28G>A|||||| 22 44547340 . T C . . ANN=C|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000406477|protein_coding|10/14|c.874-23T>C||||||,C|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000406477|protein_coding|11/14|c.874-23T>C||||||,C|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|12/14|c.874-23T>C||||||,C|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|14/14|c.874-23T>C||||||,C|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|10/14|c.874-23T>C||||||,C|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|13/14|c.874-23T>C||||||,C|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|11/14|c.874-23T>C||||||,C|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000338758|protein_coding|9/13|c.775-23T>C||||||,C|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000338758|protein_coding|10/13|c.775-23T>C||||||,C|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|13/13|c.775-23T>C||||||,C|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|11/13|c.775-23T>C||||||,C|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|9/13|c.775-23T>C||||||,C|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|12/13|c.775-23T>C||||||,C|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|10/13|c.775-23T>C||||||,C|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000404989|protein_coding|9/13|c.664-23T>C||||||,C|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000404989|protein_coding|10/13|c.664-23T>C||||||,C|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|11/13|c.664-23T>C||||||,C|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|9/13|c.664-23T>C||||||,C|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|12/13|c.664-23T>C||||||,C|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|13/13|c.664-23T>C||||||,C|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|10/13|c.664-23T>C||||||,C|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|10/13|c.874-23T>C||||||,C|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|9/12|c.775-23T>C||||||,C|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|9/12|c.664-23T>C|||||| 22 44547355 . C G . . ANN=G|splice_region_variant&intron_variant|LOW|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|10/13|c.874-8C>G||||||,G|splice_region_variant&intron_variant|LOW|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|9/12|c.775-8C>G||||||,G|splice_region_variant&intron_variant|LOW|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|9/12|c.664-8C>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000406477|protein_coding|10/14|c.874-8C>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000406477|protein_coding|11/14|c.874-8C>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|12/14|c.874-8C>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|14/14|c.874-8C>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|10/14|c.874-8C>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|13/14|c.874-8C>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|11/14|c.874-8C>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000338758|protein_coding|9/13|c.775-8C>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000338758|protein_coding|10/13|c.775-8C>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|13/13|c.775-8C>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|11/13|c.775-8C>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|9/13|c.775-8C>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|12/13|c.775-8C>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|10/13|c.775-8C>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000404989|protein_coding|9/13|c.664-8C>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000404989|protein_coding|10/13|c.664-8C>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|11/13|c.664-8C>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|9/13|c.664-8C>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|12/13|c.664-8C>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|13/13|c.664-8C>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|10/13|c.664-8C>G|||||| 22 44547365 . T G . . ANN=G|splice_region_variant&synonymous_variant|LOW|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|11/14|c.876T>G|p.Ser292Ser|1006/1569|876/1194|292/397||,G|splice_region_variant&synonymous_variant|LOW|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|10/13|c.777T>G|p.Ser259Ser|840/5429|777/1095|259/364||,G|splice_region_variant&synonymous_variant|LOW|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|10/13|c.666T>G|p.Ser222Ser|767/1591|666/984|222/327||,G|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000406477|protein_coding|10/14|c.876T>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000406477|protein_coding|11/14|c.876T>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|12/14|c.876T>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|14/14|c.876T>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|10/14|c.876T>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|13/14|c.876T>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|11/14|c.876T>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000338758|protein_coding|9/13|c.777T>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000338758|protein_coding|10/13|c.777T>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|13/13|c.777T>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|11/13|c.777T>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|9/13|c.777T>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|12/13|c.777T>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|10/13|c.777T>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000404989|protein_coding|9/13|c.666T>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000404989|protein_coding|10/13|c.666T>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|11/13|c.666T>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|9/13|c.666T>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|12/13|c.666T>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|13/13|c.666T>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|10/13|c.666T>G|||||| 22 44547418 . A G . . ANN=G|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|11/14|c.929A>G|p.Glu310Gly|1059/1569|929/1194|310/397||,G|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|10/13|c.830A>G|p.Glu277Gly|893/5429|830/1095|277/364||,G|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|10/13|c.719A>G|p.Glu240Gly|820/1591|719/984|240/327||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|12/14|c.929A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|14/14|c.929A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|10/14|c.929A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|13/14|c.929A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|11/14|c.929A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|13/13|c.830A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|11/13|c.830A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|9/13|c.830A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|12/13|c.830A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|10/13|c.830A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|11/13|c.719A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|9/13|c.719A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|12/13|c.719A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|13/13|c.719A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|10/13|c.719A>G|||||| 22 44553852 . T TG . . ANN=G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|12/14|c.943-10_943-9insG||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|14/14|c.943-10_943-9insG||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|10/14|c.943-10_943-9insG||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|13/14|c.943-10_943-9insG||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|11/14|c.943-10_943-9insG||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|turn|ENST00000406477|protein_coding|12/14|c.943-10_943-9insG||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|turn|ENST00000406477|protein_coding|11/14|c.943-10_943-9insG||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|13/13|c.844-10_844-9insG||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|11/13|c.844-10_844-9insG||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|9/13|c.844-10_844-9insG||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|12/13|c.844-10_844-9insG||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|10/13|c.844-10_844-9insG||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|turn|ENST00000338758|protein_coding|11/13|c.844-10_844-9insG||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|turn|ENST00000338758|protein_coding|10/13|c.844-10_844-9insG||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|11/13|c.733-10_733-9insG||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|9/13|c.733-10_733-9insG||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|12/13|c.733-10_733-9insG||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|13/13|c.733-10_733-9insG||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|10/13|c.733-10_733-9insG||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|turn|ENST00000404989|protein_coding|11/13|c.733-10_733-9insG||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|turn|ENST00000404989|protein_coding|10/13|c.733-10_733-9insG||||||,G|upstream_gene_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000484345|processed_transcript||n.-1_-1insG|||||4761|,G|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|11/13|c.943-10_943-9insG||||||,G|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|10/12|c.844-10_844-9insG||||||,G|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|10/12|c.733-10_733-9insG|||||| 22 44553972 . A G . . ANN=G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|12/14|c.1044+9A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|14/14|c.1044+9A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|10/14|c.1044+9A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|13/14|c.1044+9A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|11/14|c.1044+9A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000406477|protein_coding|12/14|c.1044+9A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000406477|protein_coding|13/14|c.1044+9A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|13/13|c.945+9A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|11/13|c.945+9A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|9/13|c.945+9A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|12/13|c.945+9A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|10/13|c.945+9A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000338758|protein_coding|11/13|c.945+9A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000338758|protein_coding|12/13|c.945+9A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|11/13|c.834+9A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|9/13|c.834+9A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|12/13|c.834+9A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|13/13|c.834+9A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|10/13|c.834+9A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000404989|protein_coding|11/13|c.834+9A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000404989|protein_coding|12/13|c.834+9A>G||||||,G|upstream_gene_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000484345|processed_transcript||n.-1A>G|||||4642|,G|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|12/13|c.1044+9A>G||||||,G|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|11/12|c.945+9A>G||||||,G|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|11/12|c.834+9A>G|||||| 22 44559714 . TG T . . ANN=|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|12/14|c.1045-23delG||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|14/14|c.1045-23delG||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|10/14|c.1045-23delG||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|13/14|c.1045-23delG||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|11/14|c.1045-23delG||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000406477|protein_coding|12/14|c.1045-23delG||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000406477|protein_coding|13/14|c.1045-23delG||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|13/13|c.946-23delG||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|11/13|c.946-23delG||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|9/13|c.946-23delG||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|12/13|c.946-23delG||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|10/13|c.946-23delG||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000338758|protein_coding|11/13|c.946-23delG||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000338758|protein_coding|12/13|c.946-23delG||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|11/13|c.835-23delG||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|9/13|c.835-23delG||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|12/13|c.835-23delG||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|13/13|c.835-23delG||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|10/13|c.835-23delG||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000404989|protein_coding|11/13|c.835-23delG||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000404989|protein_coding|12/13|c.835-23delG||||||,|upstream_gene_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000477438|processed_transcript||n.-1delG|||||4344|,|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|12/13|c.1045-23delG||||||,|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|11/12|c.946-23delG||||||,|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|11/12|c.835-23delG||||||,|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000484345|processed_transcript|1/2|n.119-23delG|||||| 22 44559715 . GA G . . ANN=|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|12/14|c.1045-22delA||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|14/14|c.1045-22delA||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|10/14|c.1045-22delA||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|13/14|c.1045-22delA||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|11/14|c.1045-22delA||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000406477|protein_coding|12/14|c.1045-22delA||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000406477|protein_coding|13/14|c.1045-22delA||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|13/13|c.946-22delA||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|11/13|c.946-22delA||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|9/13|c.946-22delA||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|12/13|c.946-22delA||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|10/13|c.946-22delA||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000338758|protein_coding|11/13|c.946-22delA||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000338758|protein_coding|12/13|c.946-22delA||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|11/13|c.835-22delA||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|9/13|c.835-22delA||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|12/13|c.835-22delA||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|13/13|c.835-22delA||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|10/13|c.835-22delA||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000404989|protein_coding|11/13|c.835-22delA||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000404989|protein_coding|12/13|c.835-22delA||||||,|upstream_gene_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000477438|processed_transcript||n.-1delA|||||4343|,|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|12/13|c.1045-22delA||||||,|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|11/12|c.946-22delA||||||,|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|11/12|c.835-22delA||||||,|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000484345|processed_transcript|1/2|n.119-22delA|||||| 22 44559716 . AC A . . ANN=|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|12/14|c.1045-21delC||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|14/14|c.1045-21delC||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|10/14|c.1045-21delC||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|13/14|c.1045-21delC||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|11/14|c.1045-21delC||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000406477|protein_coding|12/14|c.1045-21delC||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000406477|protein_coding|13/14|c.1045-21delC||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|13/13|c.946-21delC||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|11/13|c.946-21delC||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|9/13|c.946-21delC||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|12/13|c.946-21delC||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|10/13|c.946-21delC||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000338758|protein_coding|11/13|c.946-21delC||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000338758|protein_coding|12/13|c.946-21delC||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|11/13|c.835-21delC||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|9/13|c.835-21delC||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|12/13|c.835-21delC||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|13/13|c.835-21delC||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|10/13|c.835-21delC||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000404989|protein_coding|11/13|c.835-21delC||||||,|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000404989|protein_coding|12/13|c.835-21delC||||||,|upstream_gene_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000477438|processed_transcript||n.-1delC|||||4342|,|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|12/13|c.1045-19delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|11/12|c.946-19delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|11/12|c.835-19delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000484345|processed_transcript|1/2|n.119-19delC||||||INFO_REALIGN_3_PRIME 22 44559753 . T A . . ANN=A|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|13/14|c.1060T>A|p.Phe354Ile|1190/1569|1060/1194|354/397||,A|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|12/13|c.961T>A|p.Phe321Ile|1024/5429|961/1095|321/364||,A|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|12/13|c.850T>A|p.Phe284Ile|951/1591|850/984|284/327||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|12/14|c.1060T>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|14/14|c.1060T>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|10/14|c.1060T>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|13/14|c.1060T>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|11/14|c.1060T>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000406477|protein_coding|12/14|c.1060T>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000406477|protein_coding|13/14|c.1060T>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|13/13|c.961T>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|11/13|c.961T>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|9/13|c.961T>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|12/13|c.961T>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|10/13|c.961T>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000338758|protein_coding|11/13|c.961T>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000338758|protein_coding|12/13|c.961T>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|11/13|c.850T>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|9/13|c.850T>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|12/13|c.850T>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|13/13|c.850T>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|10/13|c.850T>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000404989|protein_coding|11/13|c.850T>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000404989|protein_coding|12/13|c.850T>A||||||,A|upstream_gene_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000477438|processed_transcript||n.-1T>A|||||4306|,A|non_coding_exon_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000484345|processed_transcript|2/3|n.134T>A|||||| 22 44559755 . C T . . ANN=T|synonymous_variant|LOW|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|13/14|c.1062C>T|p.Phe354Phe|1192/1569|1062/1194|354/397||,T|synonymous_variant|LOW|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|12/13|c.963C>T|p.Phe321Phe|1026/5429|963/1095|321/364||,T|synonymous_variant|LOW|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|12/13|c.852C>T|p.Phe284Phe|953/1591|852/984|284/327||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|12/14|c.1062C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|14/14|c.1062C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|10/14|c.1062C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|13/14|c.1062C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|11/14|c.1062C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000406477|protein_coding|12/14|c.1062C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000406477|protein_coding|13/14|c.1062C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|13/13|c.963C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|11/13|c.963C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|9/13|c.963C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|12/13|c.963C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|10/13|c.963C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000338758|protein_coding|11/13|c.963C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000338758|protein_coding|12/13|c.963C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|11/13|c.852C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|9/13|c.852C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|12/13|c.852C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|13/13|c.852C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|10/13|c.852C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000404989|protein_coding|11/13|c.852C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000404989|protein_coding|12/13|c.852C>T||||||,T|upstream_gene_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000477438|processed_transcript||n.-1C>T|||||4304|,T|non_coding_exon_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000484345|processed_transcript|2/3|n.136C>T|||||| 22 44559799 . C A . . ANN=A|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|13/14|c.1106C>A|p.Ala369Asp|1236/1569|1106/1194|369/397||,A|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|12/13|c.1007C>A|p.Ala336Asp|1070/5429|1007/1095|336/364||,A|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|12/13|c.896C>A|p.Ala299Asp|997/1591|896/984|299/327||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|12/14|c.1106C>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|14/14|c.1106C>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|10/14|c.1106C>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|13/14|c.1106C>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|11/14|c.1106C>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|13/13|c.1007C>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|11/13|c.1007C>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|9/13|c.1007C>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|12/13|c.1007C>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|10/13|c.1007C>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|11/13|c.896C>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|9/13|c.896C>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|12/13|c.896C>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|13/13|c.896C>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|10/13|c.896C>A||||||,A|upstream_gene_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000477438|processed_transcript||n.-1C>A|||||4260|,A|non_coding_exon_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000484345|processed_transcript|2/3|n.180C>A|||||| 22 44559842 . A G . . ANN=G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|12/14|c.1117+32A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|14/14|c.1117+32A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|10/14|c.1117+32A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|13/14|c.1117+32A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|11/14|c.1117+32A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000406477|protein_coding|14/14|c.1117+32A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000406477|protein_coding|13/14|c.1117+32A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|13/13|c.1018+32A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|11/13|c.1018+32A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|9/13|c.1018+32A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|12/13|c.1018+32A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|10/13|c.1018+32A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000338758|protein_coding|13/13|c.1018+32A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000338758|protein_coding|12/13|c.1018+32A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|11/13|c.907+32A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|9/13|c.907+32A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|12/13|c.907+32A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|13/13|c.907+32A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|10/13|c.907+32A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000404989|protein_coding|12/13|c.907+32A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000404989|protein_coding|13/13|c.907+32A>G||||||,G|upstream_gene_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000477438|processed_transcript||n.-1A>G|||||4217|,G|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|13/13|c.1117+32A>G||||||,G|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|12/12|c.1018+32A>G||||||,G|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|12/12|c.907+32A>G||||||,G|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000484345|processed_transcript|2/2|n.191+32A>G|||||| 22 44559851 . C T . . ANN=T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|12/14|c.1117+41C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|14/14|c.1117+41C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|10/14|c.1117+41C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|13/14|c.1117+41C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|11/14|c.1117+41C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000406477|protein_coding|14/14|c.1117+41C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000406477|protein_coding|13/14|c.1117+41C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|13/13|c.1018+41C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|11/13|c.1018+41C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|9/13|c.1018+41C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|12/13|c.1018+41C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|10/13|c.1018+41C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000338758|protein_coding|13/13|c.1018+41C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000338758|protein_coding|12/13|c.1018+41C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|11/13|c.907+41C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|9/13|c.907+41C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|12/13|c.907+41C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|13/13|c.907+41C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|10/13|c.907+41C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000404989|protein_coding|12/13|c.907+41C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000404989|protein_coding|13/13|c.907+41C>T||||||,T|upstream_gene_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000477438|processed_transcript||n.-1C>T|||||4208|,T|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|13/13|c.1117+41C>T||||||,T|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|12/12|c.1018+41C>T||||||,T|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|12/12|c.907+41C>T||||||,T|intron_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000484345|processed_transcript|2/2|n.191+41C>T|||||| 22 44564479 . C A . . ANN=A|splice_region_variant&intron_variant|LOW|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|13/13|c.1118-3C>A||||||,A|splice_region_variant&intron_variant|LOW|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|12/12|c.1019-3C>A||||||,A|splice_region_variant&intron_variant|LOW|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|12/12|c.908-3C>A||||||,A|splice_region_variant&intron_variant|LOW|PARVB|ENSG00000188677|transcript|ENST00000477438|processed_transcript|1/1|n.96-3C>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|12/14|c.1118-3C>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|14/14|c.1118-3C>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|10/14|c.1118-3C>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|13/14|c.1118-3C>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|11/14|c.1118-3C>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000406477|protein_coding|14/14|c.1118-3C>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000406477|protein_coding|13/14|c.1118-3C>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|13/13|c.1019-3C>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|11/13|c.1019-3C>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|9/13|c.1019-3C>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|12/13|c.1019-3C>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|10/13|c.1019-3C>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000338758|protein_coding|13/13|c.1019-3C>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000338758|protein_coding|12/13|c.1019-3C>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|11/13|c.908-3C>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|9/13|c.908-3C>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|12/13|c.908-3C>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|13/13|c.908-3C>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|10/13|c.908-3C>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000404989|protein_coding|12/13|c.908-3C>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000404989|protein_coding|13/13|c.908-3C>A||||||,A|upstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000422871|protein_coding||c.-425C>A|||||4357|,A|upstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000453888|processed_transcript||n.-1C>A|||||4385|,A|downstream_gene_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000484345|processed_transcript||n.*436C>A|||||356| 22 44564507 . C T . . ANN=T|synonymous_variant|LOW|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|14/14|c.1143C>T|p.Ser381Ser|1273/1569|1143/1194|381/397||,T|synonymous_variant|LOW|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|13/13|c.1044C>T|p.Ser348Ser|1107/5429|1044/1095|348/364||,T|synonymous_variant|LOW|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|13/13|c.933C>T|p.Ser311Ser|1034/1591|933/984|311/327||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|12/14|c.1143C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|14/14|c.1143C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|10/14|c.1143C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|13/14|c.1143C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|11/14|c.1143C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000406477|protein_coding|14/14|c.1143C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|13/13|c.1044C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|11/13|c.1044C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|9/13|c.1044C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|12/13|c.1044C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|10/13|c.1044C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000338758|protein_coding|13/13|c.1044C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|11/13|c.933C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|9/13|c.933C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|12/13|c.933C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|13/13|c.933C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|10/13|c.933C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000404989|protein_coding|13/13|c.933C>T||||||,T|upstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000422871|protein_coding||c.-425C>T|||||4329|,T|upstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000453888|processed_transcript||n.-1C>T|||||4357|,T|downstream_gene_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000484345|processed_transcript||n.*436C>T|||||384|,T|non_coding_exon_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000477438|processed_transcript|2/2|n.121C>T|||||| 22 44564549 . C T . . ANN=T|synonymous_variant|LOW|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|14/14|c.1185C>T|p.Asn395Asn|1315/1569|1185/1194|395/397||,T|synonymous_variant|LOW|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|13/13|c.1086C>T|p.Asn362Asn|1149/5429|1086/1095|362/364||,T|synonymous_variant|LOW|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|13/13|c.975C>T|p.Asn325Asn|1076/1591|975/984|325/327||,T|upstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000422871|protein_coding||c.-425C>T|||||4287|,T|upstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000453888|processed_transcript||n.-1C>T|||||4315|,T|downstream_gene_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000484345|processed_transcript||n.*436C>T|||||426|,T|non_coding_exon_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000477438|processed_transcript|2/2|n.163C>T|||||| 22 44564559 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|14/14|c.*1C>T|||||1|,T|3_prime_UTR_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|13/13|c.*1C>T|||||1|,T|3_prime_UTR_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|13/13|c.*1C>T|||||1|,T|upstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000422871|protein_coding||c.-425C>T|||||4277|,T|upstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000453888|processed_transcript||n.-1C>T|||||4305|,T|downstream_gene_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000484345|processed_transcript||n.*436C>T|||||436|,T|non_coding_exon_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000477438|processed_transcript|2/2|n.173C>T|||||| 22 44579172 . C T . . ANN=T|upstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000468564|retained_intron||n.-1C>T|||||2234|,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000415224|protein_coding|2/13|c.-12-26C>T||||||,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000422871|protein_coding|2/13|c.-12-26C>T||||||,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000453888|processed_transcript|1/3|n.209-26C>T||||||,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000444313|protein_coding|2/13|c.-12-26C>T||||||,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000416291|protein_coding|2/2|c.-12-26C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000475485|retained_intron|2/12|n.212-26C>T||||||,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000417767|protein_coding|1/1|c.-12-26C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000356909|nonsense_mediated_decay|2/12|n.-12-26C>T||||||,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000471836|retained_intron|1/2|n.169-26C>T||||||,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000466375|protein_coding|1/2|c.-12-26C>T|||||| 22 44579173 . G A . . ANN=A|upstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000468564|retained_intron||n.-1G>A|||||2233|,A|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000415224|protein_coding|2/13|c.-12-25G>A||||||,A|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000422871|protein_coding|2/13|c.-12-25G>A||||||,A|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000453888|processed_transcript|1/3|n.209-25G>A||||||,A|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000444313|protein_coding|2/13|c.-12-25G>A||||||,A|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000416291|protein_coding|2/2|c.-12-25G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000475485|retained_intron|2/12|n.212-25G>A||||||,A|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000417767|protein_coding|1/1|c.-12-25G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000356909|nonsense_mediated_decay|2/12|n.-12-25G>A||||||,A|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000471836|retained_intron|1/2|n.169-25G>A||||||,A|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000466375|protein_coding|1/2|c.-12-25G>A|||||| 22 44579253 . G C . . ANN=C|missense_variant|MODERATE|PARVG|ENSG00000138964|transcript|ENST00000415224|protein_coding|3/14|c.44G>C|p.Gly15Ala|287/1967|44/996|15/331||,C|missense_variant|MODERATE|PARVG|ENSG00000138964|transcript|ENST00000422871|protein_coding|3/14|c.44G>C|p.Gly15Ala|468/2148|44/996|15/331||,C|missense_variant|MODERATE|PARVG|ENSG00000138964|transcript|ENST00000444313|protein_coding|3/14|c.44G>C|p.Gly15Ala|528/3523|44/996|15/331||,C|missense_variant|MODERATE|PARVG|ENSG00000138964|transcript|ENST00000416291|protein_coding|3/3|c.44G>C|p.Gly15Ala|274/309|44/79|15/25||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|PARVG|ENSG00000138964|transcript|ENST00000417767|protein_coding|2/2|c.44G>C|p.Gly15Ala|576/622|44/90|15/29||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|PARVG|ENSG00000138964|transcript|ENST00000466375|protein_coding|2/3|c.44G>C|p.Gly15Ala|113/820|44/105|15/34||,C|upstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000468564|retained_intron||n.-1G>C|||||2153|,C|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000453888|processed_transcript|2/4|n.264G>C||||||,C|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000475485|retained_intron|3/13|n.267G>C||||||,C|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000356909|nonsense_mediated_decay|3/13|n.44G>C||||||,C|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000471836|retained_intron|2/3|n.224G>C|||||| 22 44579275 . G A . . ANN=A|synonymous_variant|LOW|PARVG|ENSG00000138964|transcript|ENST00000415224|protein_coding|3/14|c.66G>A|p.Glu22Glu|309/1967|66/996|22/331||,A|synonymous_variant|LOW|PARVG|ENSG00000138964|transcript|ENST00000422871|protein_coding|3/14|c.66G>A|p.Glu22Glu|490/2148|66/996|22/331||,A|synonymous_variant|LOW|PARVG|ENSG00000138964|transcript|ENST00000444313|protein_coding|3/14|c.66G>A|p.Glu22Glu|550/3523|66/996|22/331||,A|synonymous_variant|LOW|PARVG|ENSG00000138964|transcript|ENST00000416291|protein_coding|3/3|c.66G>A|p.Glu22Glu|296/309|66/79|22/25||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|PARVG|ENSG00000138964|transcript|ENST00000417767|protein_coding|2/2|c.66G>A|p.Glu22Glu|598/622|66/90|22/29||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|PARVG|ENSG00000138964|transcript|ENST00000466375|protein_coding|2/3|c.66G>A|p.Glu22Glu|135/820|66/105|22/34||,A|upstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000468564|retained_intron||n.-1G>A|||||2131|,A|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000453888|processed_transcript|2/4|n.286G>A||||||,A|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000475485|retained_intron|3/13|n.289G>A||||||,A|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000356909|nonsense_mediated_decay|3/13|n.66G>A||||||,A|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000471836|retained_intron|2/3|n.246G>A|||||| 22 44581709 . C T . . ANN=T|missense_variant|MODERATE|PARVG|ENSG00000138964|transcript|ENST00000415224|protein_coding|4/14|c.101C>T|p.Pro34Leu|344/1967|101/996|34/331||,T|missense_variant|MODERATE|PARVG|ENSG00000138964|transcript|ENST00000422871|protein_coding|4/14|c.101C>T|p.Pro34Leu|525/2148|101/996|34/331||,T|missense_variant|MODERATE|PARVG|ENSG00000138964|transcript|ENST00000444313|protein_coding|4/14|c.101C>T|p.Pro34Leu|585/3523|101/996|34/331||,T|downstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000416291|protein_coding||c.*309C>T|||||2421|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000417767|protein_coding||c.*622C>T|||||2410|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000466375|protein_coding||c.*174C>T|||||1568|,T|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000453888|processed_transcript|3/4|n.321C>T||||||,T|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000475485|retained_intron|4/13|n.324C>T||||||,T|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000356909|nonsense_mediated_decay|4/13|n.101C>T||||||,T|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000471836|retained_intron|3/3|n.281C>T||||||,T|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000468564|retained_intron|1/8|n.304C>T|||||| 22 44583611 . G A . . ANN=A|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_1|ENST00000415224|protein_coding|7/14|c.145-45G>A||||||,A|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_1|ENST00000415224|protein_coding|4/14|c.145-45G>A||||||,A|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_1|ENST00000415224|protein_coding|6/14|c.145-45G>A||||||,A|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_1|ENST00000415224|protein_coding|5/14|c.145-45G>A||||||,A|downstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000453888|processed_transcript||n.*960G>A|||||559|,A|downstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000416291|protein_coding||c.*309G>A|||||4323|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000417767|protein_coding||c.*622G>A|||||4312|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000471836|retained_intron||n.*566G>A|||||1617|,A|downstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000466375|protein_coding||c.*174G>A|||||3470|,A|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000415224|protein_coding|4/13|c.145-45G>A||||||,A|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000422871|protein_coding|4/13|c.145-45G>A||||||,A|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000444313|protein_coding|4/13|c.145-45G>A||||||,A|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000356909|nonsense_mediated_decay|4/12|n.145-45G>A||||||,A|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000475485|retained_intron|5/13|n.1522G>A||||||,A|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000468564|retained_intron|1/8|n.2206G>A|||||| 22 44583631 . A G . . ANN=G|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_1|ENST00000415224|protein_coding|7/14|c.145-25A>G||||||,G|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_1|ENST00000415224|protein_coding|4/14|c.145-25A>G||||||,G|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_1|ENST00000415224|protein_coding|6/14|c.145-25A>G||||||,G|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_1|ENST00000415224|protein_coding|5/14|c.145-25A>G||||||,G|downstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000453888|processed_transcript||n.*960A>G|||||579|,G|downstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000416291|protein_coding||c.*309A>G|||||4343|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000417767|protein_coding||c.*622A>G|||||4332|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000471836|retained_intron||n.*566A>G|||||1637|,G|downstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000466375|protein_coding||c.*174A>G|||||3490|,G|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000415224|protein_coding|4/13|c.145-25A>G||||||,G|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000422871|protein_coding|4/13|c.145-25A>G||||||,G|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000444313|protein_coding|4/13|c.145-25A>G||||||,G|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000356909|nonsense_mediated_decay|4/12|n.145-25A>G||||||,G|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000475485|retained_intron|5/13|n.1542A>G||||||,G|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000468564|retained_intron|1/8|n.2226A>G|||||| 22 44583650 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|PARVG|ENSG00000138964|transcript|ENST00000415224|protein_coding|4/13|c.145-6C>T||||||,T|splice_region_variant&intron_variant|LOW|PARVG|ENSG00000138964|transcript|ENST00000422871|protein_coding|4/13|c.145-6C>T||||||,T|splice_region_variant&intron_variant|LOW|PARVG|ENSG00000138964|transcript|ENST00000444313|protein_coding|4/13|c.145-6C>T||||||,T|splice_region_variant&intron_variant|LOW|PARVG|ENSG00000138964|transcript|ENST00000356909|nonsense_mediated_decay|4/12|n.145-6C>T||||||,T|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_1|ENST00000415224|protein_coding|7/14|c.145-6C>T||||||,T|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_1|ENST00000415224|protein_coding|4/14|c.145-6C>T||||||,T|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_1|ENST00000415224|protein_coding|6/14|c.145-6C>T||||||,T|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_1|ENST00000415224|protein_coding|5/14|c.145-6C>T||||||,T|downstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000453888|processed_transcript||n.*960C>T|||||598|,T|downstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000416291|protein_coding||c.*309C>T|||||4362|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000417767|protein_coding||c.*622C>T|||||4351|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000471836|retained_intron||n.*566C>T|||||1656|,T|downstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000466375|protein_coding||c.*174C>T|||||3509|,T|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000475485|retained_intron|5/13|n.1561C>T||||||,T|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000468564|retained_intron|1/8|n.2245C>T|||||| 22 44583779 . C T . . ANN=T|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_1|ENST00000415224|protein_coding|7/14|c.247+21C>T||||||,T|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_1|ENST00000415224|protein_coding|4/14|c.247+21C>T||||||,T|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_1|ENST00000415224|protein_coding|6/14|c.247+21C>T||||||,T|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_1|ENST00000415224|protein_coding|5/14|c.247+21C>T||||||,T|downstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000453888|processed_transcript||n.*960C>T|||||727|,T|downstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000416291|protein_coding||c.*309C>T|||||4491|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000417767|protein_coding||c.*622C>T|||||4480|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000471836|retained_intron||n.*566C>T|||||1785|,T|downstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000466375|protein_coding||c.*174C>T|||||3638|,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000415224|protein_coding|5/13|c.247+21C>T||||||,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000422871|protein_coding|5/13|c.247+21C>T||||||,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000444313|protein_coding|5/13|c.247+21C>T||||||,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000475485|retained_intron|5/12|n.1669+21C>T||||||,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000356909|nonsense_mediated_decay|5/12|n.247+21C>T||||||,T|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000468564|retained_intron|1/8|n.2374C>T|||||| 22 44585138 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|PARVG|ENSG00000138964|transcript|ENST00000415224|protein_coding|6/13|c.388+4C>T||||||,T|splice_region_variant&intron_variant|LOW|PARVG|ENSG00000138964|transcript|ENST00000422871|protein_coding|6/13|c.388+4C>T||||||,T|splice_region_variant&intron_variant|LOW|PARVG|ENSG00000138964|transcript|ENST00000444313|protein_coding|6/13|c.388+4C>T||||||,T|splice_region_variant&intron_variant|LOW|PARVG|ENSG00000138964|transcript|ENST00000475485|retained_intron|6/12|n.1810+4C>T||||||,T|splice_region_variant&intron_variant|LOW|PARVG|ENSG00000138964|transcript|ENST00000356909|nonsense_mediated_decay|6/12|n.388+4C>T||||||,T|splice_region_variant&intron_variant|LOW|PARVG|ENSG00000138964|transcript|ENST00000468564|retained_intron|1/7|n.3729+4C>T||||||,T|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_1|ENST00000415224|protein_coding|7/14|c.388+4C>T||||||,T|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_1|ENST00000415224|protein_coding|4/14|c.388+4C>T||||||,T|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_1|ENST00000415224|protein_coding|6/14|c.388+4C>T||||||,T|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_1|ENST00000415224|protein_coding|5/14|c.388+4C>T||||||,T|downstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000453888|processed_transcript||n.*960C>T|||||2086|,T|downstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000471836|retained_intron||n.*566C>T|||||3144|,T|downstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000466375|protein_coding||c.*174C>T|||||4997| 22 44586391 . C T . . ANN=T|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_1|ENST00000415224|protein_coding|7/14|c.389-40C>T||||||,T|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_1|ENST00000415224|protein_coding|4/14|c.389-40C>T||||||,T|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_1|ENST00000415224|protein_coding|6/14|c.389-40C>T||||||,T|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_1|ENST00000415224|protein_coding|5/14|c.389-40C>T||||||,T|downstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000453888|processed_transcript||n.*960C>T|||||3339|,T|downstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000471836|retained_intron||n.*566C>T|||||4397|,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000415224|protein_coding|6/13|c.389-40C>T||||||,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000422871|protein_coding|6/13|c.389-40C>T||||||,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000444313|protein_coding|6/13|c.389-40C>T||||||,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000475485|retained_intron|6/12|n.1811-40C>T||||||,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000356909|nonsense_mediated_decay|6/12|n.389-40C>T||||||,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000468564|retained_intron|1/7|n.3730-40C>T|||||| 22 44586484 . A G . . ANN=G|missense_variant|MODERATE|PARVG|ENSG00000138964|transcript|ENST00000415224|protein_coding|7/14|c.442A>G|p.Lys148Glu|685/1967|442/996|148/331||,G|missense_variant|MODERATE|PARVG|ENSG00000138964|transcript|ENST00000422871|protein_coding|7/14|c.442A>G|p.Lys148Glu|866/2148|442/996|148/331||,G|missense_variant|MODERATE|PARVG|ENSG00000138964|transcript|ENST00000444313|protein_coding|7/14|c.442A>G|p.Lys148Glu|926/3523|442/996|148/331||,G|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_1|ENST00000415224|protein_coding|7/14|c.442A>G||||||,G|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_1|ENST00000415224|protein_coding|4/14|c.442A>G||||||,G|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_1|ENST00000415224|protein_coding|6/14|c.442A>G||||||,G|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_1|ENST00000415224|protein_coding|5/14|c.442A>G||||||,G|downstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000453888|processed_transcript||n.*960A>G|||||3432|,G|downstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000471836|retained_intron||n.*566A>G|||||4490|,G|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000475485|retained_intron|7/13|n.1864A>G||||||,G|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000356909|nonsense_mediated_decay|7/13|n.442A>G||||||,G|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000468564|retained_intron|2/8|n.3783A>G|||||| 22 44586498 . C T . . ANN=T|synonymous_variant|LOW|PARVG|ENSG00000138964|transcript|ENST00000415224|protein_coding|7/14|c.456C>T|p.Pro152Pro|699/1967|456/996|152/331||,T|synonymous_variant|LOW|PARVG|ENSG00000138964|transcript|ENST00000422871|protein_coding|7/14|c.456C>T|p.Pro152Pro|880/2148|456/996|152/331||,T|synonymous_variant|LOW|PARVG|ENSG00000138964|transcript|ENST00000444313|protein_coding|7/14|c.456C>T|p.Pro152Pro|940/3523|456/996|152/331||,T|downstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000453888|processed_transcript||n.*960C>T|||||3446|,T|downstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000471836|retained_intron||n.*566C>T|||||4504|,T|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000475485|retained_intron|7/13|n.1878C>T||||||,T|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000356909|nonsense_mediated_decay|7/13|n.456C>T||||||,T|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000468564|retained_intron|2/8|n.3797C>T|||||| 22 44586506 . C G . . ANN=G|missense_variant|MODERATE|PARVG|ENSG00000138964|transcript|ENST00000415224|protein_coding|7/14|c.464C>G|p.Ser155Cys|707/1967|464/996|155/331||,G|missense_variant|MODERATE|PARVG|ENSG00000138964|transcript|ENST00000422871|protein_coding|7/14|c.464C>G|p.Ser155Cys|888/2148|464/996|155/331||,G|missense_variant|MODERATE|PARVG|ENSG00000138964|transcript|ENST00000444313|protein_coding|7/14|c.464C>G|p.Ser155Cys|948/3523|464/996|155/331||,G|downstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000453888|processed_transcript||n.*960C>G|||||3454|,G|downstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000471836|retained_intron||n.*566C>G|||||4512|,G|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000475485|retained_intron|7/13|n.1886C>G||||||,G|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000356909|nonsense_mediated_decay|7/13|n.464C>G||||||,G|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000468564|retained_intron|2/8|n.3805C>G|||||| 22 44586519 . C A . . ANN=A|missense_variant|MODERATE|PARVG|ENSG00000138964|transcript|ENST00000415224|protein_coding|7/14|c.477C>A|p.Asn159Lys|720/1967|477/996|159/331||,A|missense_variant|MODERATE|PARVG|ENSG00000138964|transcript|ENST00000422871|protein_coding|7/14|c.477C>A|p.Asn159Lys|901/2148|477/996|159/331||,A|missense_variant|MODERATE|PARVG|ENSG00000138964|transcript|ENST00000444313|protein_coding|7/14|c.477C>A|p.Asn159Lys|961/3523|477/996|159/331||,A|downstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000453888|processed_transcript||n.*960C>A|||||3467|,A|downstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000471836|retained_intron||n.*566C>A|||||4525|,A|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000475485|retained_intron|7/13|n.1899C>A||||||,A|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000356909|nonsense_mediated_decay|7/13|n.477C>A||||||,A|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000468564|retained_intron|2/8|n.3818C>A|||||| 22 44586522 . C T . . ANN=T|synonymous_variant|LOW|PARVG|ENSG00000138964|transcript|ENST00000415224|protein_coding|7/14|c.480C>T|p.Val160Val|723/1967|480/996|160/331||,T|synonymous_variant|LOW|PARVG|ENSG00000138964|transcript|ENST00000422871|protein_coding|7/14|c.480C>T|p.Val160Val|904/2148|480/996|160/331||,T|synonymous_variant|LOW|PARVG|ENSG00000138964|transcript|ENST00000444313|protein_coding|7/14|c.480C>T|p.Val160Val|964/3523|480/996|160/331||,T|downstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000453888|processed_transcript||n.*960C>T|||||3470|,T|downstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000471836|retained_intron||n.*566C>T|||||4528|,T|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000475485|retained_intron|7/13|n.1902C>T||||||,T|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000356909|nonsense_mediated_decay|7/13|n.480C>T||||||,T|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000468564|retained_intron|2/8|n.3821C>T|||||| 22 44587906 . TC T . . ANN=|upstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000472551|processed_transcript||n.-1delC|||||4071|,|downstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000453888|processed_transcript||n.*960delC|||||4855|,|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000415224|protein_coding|7/13|c.505-22delC||||||,|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000422871|protein_coding|7/13|c.505-22delC||||||,|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000444313|protein_coding|7/13|c.505-22delC||||||,|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000475485|retained_intron|7/12|n.1927-22delC||||||,|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000356909|nonsense_mediated_decay|7/12|n.505-22delC||||||,|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000468564|retained_intron|2/7|n.3846-22delC|||||| 22 44588028 . G A . . ANN=A|upstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000472551|processed_transcript||n.-1G>A|||||3950|,A|downstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000453888|processed_transcript||n.*960G>A|||||4976|,A|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000415224|protein_coding|8/13|c.560+44G>A||||||,A|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000422871|protein_coding|8/13|c.560+44G>A||||||,A|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000444313|protein_coding|8/13|c.560+44G>A||||||,A|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000475485|retained_intron|8/12|n.2007+19G>A||||||,A|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000356909|nonsense_mediated_decay|8/12|n.*21+19G>A||||||,A|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000468564|retained_intron|3/7|n.3926+19G>A|||||| 22 44588029 . C T . . ANN=T|upstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000472551|processed_transcript||n.-1C>T|||||3949|,T|downstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000453888|processed_transcript||n.*960C>T|||||4977|,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000415224|protein_coding|8/13|c.560+45C>T||||||,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000422871|protein_coding|8/13|c.560+45C>T||||||,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000444313|protein_coding|8/13|c.560+45C>T||||||,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000475485|retained_intron|8/12|n.2007+20C>T||||||,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000356909|nonsense_mediated_decay|8/12|n.*21+20C>T||||||,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000468564|retained_intron|3/7|n.3926+20C>T|||||| 22 44589693 . C T . . ANN=T|synonymous_variant|LOW|PARVG|ENSG00000138964|transcript|ENST00000415224|protein_coding|9/14|c.573C>T|p.Asp191Asp|816/1967|573/996|191/331||,T|synonymous_variant|LOW|PARVG|ENSG00000138964|transcript|ENST00000422871|protein_coding|9/14|c.573C>T|p.Asp191Asp|997/2148|573/996|191/331||,T|synonymous_variant|LOW|PARVG|ENSG00000138964|transcript|ENST00000444313|protein_coding|9/14|c.573C>T|p.Asp191Asp|1057/3523|573/996|191/331||,T|upstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000472551|processed_transcript||n.-1C>T|||||2285|,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000475485|retained_intron|8/12|n.2007+1684C>T||||||,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000356909|nonsense_mediated_decay|8/12|n.*21+1684C>T||||||,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000468564|retained_intron|3/7|n.3926+1684C>T|||||| 22 44589736 . C T . . ANN=T|upstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000472551|processed_transcript||n.-1C>T|||||2242|,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000415224|protein_coding|9/13|c.583+33C>T||||||,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000422871|protein_coding|9/13|c.583+33C>T||||||,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000444313|protein_coding|9/13|c.583+33C>T||||||,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000475485|retained_intron|8/12|n.2007+1727C>T||||||,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000356909|nonsense_mediated_decay|8/12|n.*21+1727C>T||||||,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000468564|retained_intron|3/7|n.3926+1727C>T|||||| 22 44592191 . C T . . ANN=T|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|13/14|c.643-36C>T||||||,T|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|11/14|c.643-36C>T||||||,T|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|12/14|c.643-36C>T||||||,T|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|10/14|c.643-36C>T||||||,T|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|14/14|c.643-36C>T||||||,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000415224|protein_coding|10/13|c.643-36C>T||||||,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000422871|protein_coding|10/13|c.643-36C>T||||||,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000444313|protein_coding|10/13|c.643-36C>T||||||,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000475485|retained_intron|9/12|n.2065-36C>T||||||,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000356909|nonsense_mediated_decay|9/12|n.*79-36C>T||||||,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000468564|retained_intron|4/7|n.3984-36C>T||||||,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000472551|processed_transcript|1/3|n.116+98C>T|||||| 22 44592207 . C CCTTGTT . . ANN=CTTGTT|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|13/14|c.643-20_643-19insCTTGTT||||||,CTTGTT|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|11/14|c.643-20_643-19insCTTGTT||||||,CTTGTT|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|12/14|c.643-20_643-19insCTTGTT||||||,CTTGTT|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|10/14|c.643-20_643-19insCTTGTT||||||,CTTGTT|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|14/14|c.643-20_643-19insCTTGTT||||||,GTTCTT|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000415224|protein_coding|10/13|c.643-16_643-11dupGTTCTT||||||INFO_REALIGN_3_PRIME,GTTCTT|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000422871|protein_coding|10/13|c.643-16_643-11dupGTTCTT||||||INFO_REALIGN_3_PRIME,GTTCTT|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000444313|protein_coding|10/13|c.643-16_643-11dupGTTCTT||||||INFO_REALIGN_3_PRIME,GTTCTT|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000475485|retained_intron|9/12|n.2065-16_2065-11dupGTTCTT||||||INFO_REALIGN_3_PRIME,GTTCTT|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000356909|nonsense_mediated_decay|9/12|n.*79-16_*79-11dupGTTCTT||||||INFO_REALIGN_3_PRIME,GTTCTT|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000468564|retained_intron|4/7|n.3984-16_3984-11dupGTTCTT||||||INFO_REALIGN_3_PRIME,GTTCTT|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000472551|processed_transcript|1/3|n.116+118_116+123dupGTTCTT||||||INFO_REALIGN_3_PRIME 22 44594456 . G A . . ANN=A|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|13/14|c.712-45G>A||||||,A|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|11/14|c.712-45G>A||||||,A|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|12/14|c.712-45G>A||||||,A|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|10/14|c.712-45G>A||||||,A|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|14/14|c.712-45G>A||||||,A|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000415224|protein_coding|11/13|c.712-45G>A||||||,A|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000422871|protein_coding|11/13|c.712-45G>A||||||,A|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000444313|protein_coding|11/13|c.712-45G>A||||||,A|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000475485|retained_intron|10/12|n.2134-45G>A||||||,A|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000356909|nonsense_mediated_decay|10/12|n.*148-45G>A||||||,A|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000468564|retained_intron|5/7|n.4053-45G>A||||||,A|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000472551|processed_transcript|1/3|n.117-45G>A|||||| 22 44594476 . T C . . ANN=C|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|13/14|c.712-25T>C||||||,C|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|11/14|c.712-25T>C||||||,C|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|12/14|c.712-25T>C||||||,C|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|10/14|c.712-25T>C||||||,C|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|14/14|c.712-25T>C||||||,C|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000415224|protein_coding|11/13|c.712-25T>C||||||,C|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000422871|protein_coding|11/13|c.712-25T>C||||||,C|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000444313|protein_coding|11/13|c.712-25T>C||||||,C|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000475485|retained_intron|10/12|n.2134-25T>C||||||,C|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000356909|nonsense_mediated_decay|10/12|n.*148-25T>C||||||,C|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000468564|retained_intron|5/7|n.4053-25T>C||||||,C|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000472551|processed_transcript|1/3|n.117-25T>C|||||| 22 44594480 . C T . . ANN=T|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|13/14|c.712-21C>T||||||,T|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|11/14|c.712-21C>T||||||,T|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|12/14|c.712-21C>T||||||,T|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|10/14|c.712-21C>T||||||,T|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|14/14|c.712-21C>T||||||,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000415224|protein_coding|11/13|c.712-21C>T||||||,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000422871|protein_coding|11/13|c.712-21C>T||||||,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000444313|protein_coding|11/13|c.712-21C>T||||||,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000475485|retained_intron|10/12|n.2134-21C>T||||||,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000356909|nonsense_mediated_decay|10/12|n.*148-21C>T||||||,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000468564|retained_intron|5/7|n.4053-21C>T||||||,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000472551|processed_transcript|1/3|n.117-21C>T|||||| 22 44594535 . G A . . ANN=A|missense_variant|MODERATE|PARVG|ENSG00000138964|transcript|ENST00000415224|protein_coding|12/14|c.746G>A|p.Gly249Glu|989/1967|746/996|249/331||,A|missense_variant|MODERATE|PARVG|ENSG00000138964|transcript|ENST00000422871|protein_coding|12/14|c.746G>A|p.Gly249Glu|1170/2148|746/996|249/331||,A|missense_variant|MODERATE|PARVG|ENSG00000138964|transcript|ENST00000444313|protein_coding|12/14|c.746G>A|p.Gly249Glu|1230/3523|746/996|249/331||,A|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|13/14|c.746G>A||||||,A|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|11/14|c.746G>A||||||,A|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|12/14|c.746G>A||||||,A|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|10/14|c.746G>A||||||,A|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|14/14|c.746G>A||||||,A|3_prime_UTR_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000356909|nonsense_mediated_decay|11/13|n.*182G>A|||||6547|,A|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000475485|retained_intron|11/13|n.2168G>A||||||,A|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000356909|nonsense_mediated_decay|11/13|n.*182G>A||||||,A|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000468564|retained_intron|6/8|n.4087G>A||||||,A|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000472551|processed_transcript|2/4|n.151G>A|||||| 22 44594584 . C G . . ANN=G|synonymous_variant|LOW|PARVG|ENSG00000138964|transcript|ENST00000415224|protein_coding|12/14|c.795C>G|p.Pro265Pro|1038/1967|795/996|265/331||,G|synonymous_variant|LOW|PARVG|ENSG00000138964|transcript|ENST00000422871|protein_coding|12/14|c.795C>G|p.Pro265Pro|1219/2148|795/996|265/331||,G|synonymous_variant|LOW|PARVG|ENSG00000138964|transcript|ENST00000444313|protein_coding|12/14|c.795C>G|p.Pro265Pro|1279/3523|795/996|265/331||,G|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|13/14|c.795C>G||||||,G|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|11/14|c.795C>G||||||,G|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|12/14|c.795C>G||||||,G|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|10/14|c.795C>G||||||,G|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|14/14|c.795C>G||||||,G|3_prime_UTR_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000356909|nonsense_mediated_decay|11/13|n.*231C>G|||||6596|,G|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000475485|retained_intron|11/13|n.2217C>G||||||,G|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000356909|nonsense_mediated_decay|11/13|n.*231C>G||||||,G|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000468564|retained_intron|6/8|n.4136C>G||||||,G|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000472551|processed_transcript|2/4|n.200C>G|||||| 22 44601602 . T C . . ANN=C|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|13/14|c.814-35T>C||||||,C|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|11/14|c.814-35T>C||||||,C|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|12/14|c.814-35T>C||||||,C|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|10/14|c.814-35T>C||||||,C|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|14/14|c.814-35T>C||||||,C|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000415224|protein_coding|12/13|c.814-35T>C||||||,C|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000422871|protein_coding|12/13|c.814-35T>C||||||,C|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000444313|protein_coding|12/13|c.814-35T>C||||||,C|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000475485|retained_intron|11/12|n.2236-35T>C||||||,C|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000356909|nonsense_mediated_decay|11/12|n.*250-35T>C||||||,C|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000468564|retained_intron|6/7|n.4155-35T>C||||||,C|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000472551|processed_transcript|2/3|n.218+7000T>C|||||| 22 44601734 . C T . . ANN=T|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|13/14|c.886+25C>T||||||,T|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|11/14|c.886+25C>T||||||,T|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|12/14|c.886+25C>T||||||,T|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|10/14|c.886+25C>T||||||,T|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|14/14|c.886+25C>T||||||,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000415224|protein_coding|13/13|c.886+25C>T||||||,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000422871|protein_coding|13/13|c.886+25C>T||||||,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000444313|protein_coding|13/13|c.886+25C>T||||||,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000475485|retained_intron|12/12|n.2308+25C>T||||||,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000356909|nonsense_mediated_decay|12/12|n.*322+25C>T||||||,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000468564|retained_intron|7/7|n.4227+25C>T||||||,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000472551|processed_transcript|2/3|n.218+7132C>T|||||| 22 44602222 . C T . . ANN=T|synonymous_variant|LOW|PARVG|ENSG00000138964|transcript|ENST00000415224|protein_coding|14/14|c.912C>T|p.Ser304Ser|1155/1967|912/996|304/331||,T|synonymous_variant|LOW|PARVG|ENSG00000138964|transcript|ENST00000422871|protein_coding|14/14|c.912C>T|p.Ser304Ser|1336/2148|912/996|304/331||,T|synonymous_variant|LOW|PARVG|ENSG00000138964|transcript|ENST00000444313|protein_coding|14/14|c.912C>T|p.Ser304Ser|1396/3523|912/996|304/331||,T|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|13/14|c.912C>T||||||,T|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|11/14|c.912C>T||||||,T|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|12/14|c.912C>T||||||,T|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|10/14|c.912C>T||||||,T|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|14/14|c.912C>T||||||,T|3_prime_UTR_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000356909|nonsense_mediated_decay|13/13|n.*348C>T|||||14234|,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000472551|processed_transcript|2/3|n.218+7620C>T||||||,T|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000475485|retained_intron|13/13|n.2334C>T||||||,T|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000356909|nonsense_mediated_decay|13/13|n.*348C>T||||||,T|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000468564|retained_intron|8/8|n.4253C>T|||||| 22 44602229 . A C . . ANN=C|synonymous_variant|LOW|PARVG|ENSG00000138964|transcript|ENST00000415224|protein_coding|14/14|c.919A>C|p.Arg307Arg|1162/1967|919/996|307/331||,C|synonymous_variant|LOW|PARVG|ENSG00000138964|transcript|ENST00000422871|protein_coding|14/14|c.919A>C|p.Arg307Arg|1343/2148|919/996|307/331||,C|synonymous_variant|LOW|PARVG|ENSG00000138964|transcript|ENST00000444313|protein_coding|14/14|c.919A>C|p.Arg307Arg|1403/3523|919/996|307/331||,C|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|13/14|c.919A>C||||||,C|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|11/14|c.919A>C||||||,C|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|12/14|c.919A>C||||||,C|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|10/14|c.919A>C||||||,C|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|14/14|c.919A>C||||||,C|3_prime_UTR_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000356909|nonsense_mediated_decay|13/13|n.*355A>C|||||14241|,C|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000472551|processed_transcript|2/3|n.218+7627A>C||||||,C|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000475485|retained_intron|13/13|n.2341A>C||||||,C|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000356909|nonsense_mediated_decay|13/13|n.*355A>C||||||,C|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000468564|retained_intron|8/8|n.4260A>C|||||| 22 44602262 . C T . . ANN=T|stop_gained|HIGH|PARVG|ENSG00000138964|transcript|ENST00000415224|protein_coding|14/14|c.952C>T|p.Gln318*|1195/1967|952/996|318/331||,T|stop_gained|HIGH|PARVG|ENSG00000138964|transcript|ENST00000422871|protein_coding|14/14|c.952C>T|p.Gln318*|1376/2148|952/996|318/331||,T|stop_gained|HIGH|PARVG|ENSG00000138964|transcript|ENST00000444313|protein_coding|14/14|c.952C>T|p.Gln318*|1436/3523|952/996|318/331||,T|3_prime_UTR_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000356909|nonsense_mediated_decay|13/13|n.*388C>T|||||14274|,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000472551|processed_transcript|2/3|n.218+7660C>T||||||,T|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000475485|retained_intron|13/13|n.2374C>T||||||,T|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000356909|nonsense_mediated_decay|13/13|n.*388C>T||||||,T|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000468564|retained_intron|8/8|n.4293C>T|||||| 22 44602300 . G A . . ANN=A|synonymous_variant|LOW|PARVG|ENSG00000138964|transcript|ENST00000415224|protein_coding|14/14|c.990G>A|p.Pro330Pro|1233/1967|990/996|330/331||,A|synonymous_variant|LOW|PARVG|ENSG00000138964|transcript|ENST00000422871|protein_coding|14/14|c.990G>A|p.Pro330Pro|1414/2148|990/996|330/331||,A|synonymous_variant|LOW|PARVG|ENSG00000138964|transcript|ENST00000444313|protein_coding|14/14|c.990G>A|p.Pro330Pro|1474/3523|990/996|330/331||,A|3_prime_UTR_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000356909|nonsense_mediated_decay|13/13|n.*426G>A|||||14312|,A|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000472551|processed_transcript|2/3|n.218+7698G>A||||||,A|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000475485|retained_intron|13/13|n.2412G>A||||||,A|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000356909|nonsense_mediated_decay|13/13|n.*426G>A||||||,A|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000468564|retained_intron|8/8|n.4331G>A|||||| 22 44602313 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000415224|protein_coding|14/14|c.*7C>T|||||7|,T|3_prime_UTR_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000422871|protein_coding|14/14|c.*7C>T|||||7|,T|3_prime_UTR_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000444313|protein_coding|14/14|c.*7C>T|||||7|,T|3_prime_UTR_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000356909|nonsense_mediated_decay|13/13|n.*439C>T|||||14325|,T|intron_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000472551|processed_transcript|2/3|n.218+7711C>T||||||,T|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000475485|retained_intron|13/13|n.2425C>T||||||,T|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000356909|nonsense_mediated_decay|13/13|n.*439C>T||||||,T|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000468564|retained_intron|8/8|n.4344C>T|||||| 22 44645532 . T A . . ANN=A|3_prime_UTR_variant|MODIFIER|KIAA1644|ENSG00000138944|transcript|ENST00000381176|protein_coding|5/5|c.*33A>T|||||33| 22 44645539 . C G . . ANN=G|3_prime_UTR_variant|MODIFIER|KIAA1644|ENSG00000138944|transcript|ENST00000381176|protein_coding|5/5|c.*26G>C|||||26| 22 44645561 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|KIAA1644|ENSG00000138944|transcript|ENST00000381176|protein_coding|5/5|c.*4C>T|||||4| 22 44645575 . A ATACAAGG . . ANN=TACAAGG|intron_variant|MODIFIER|KIAA1644|ENSG00000138944|transcript|ENST00000381176|protein_coding|4/4|c.600-17_600-11dupCCTTGTA|||||| 22 44645582 . GA G . . ANN=|intron_variant|MODIFIER|KIAA1644|ENSG00000138944|transcript|ENST00000381176|protein_coding|4/4|c.600-18delT|||||| 22 44645593 . TCA T . . ANN=|intron_variant|MODIFIER|KIAA1644|ENSG00000138944|transcript|ENST00000381176|protein_coding|4/4|c.600-30_600-29delTG|||||| 22 44645598 . T G . . ANN=G|intron_variant|MODIFIER|KIAA1644|ENSG00000138944|transcript|ENST00000381176|protein_coding|4/4|c.600-33A>C|||||| 22 44681317 . G A . . ANN=A|missense_variant|MODERATE|KIAA1644|ENSG00000138944|transcript|ENST00000381176|protein_coding|4/5|c.590C>T|p.Ser197Leu|723/6751|590/600|197/199||,A|sequence_feature|LOW|KIAA1644|ENSG00000138944|topological_domain:Cytoplasmic|ENST00000381176|protein_coding|4/5|c.590C>T|||||| 22 44681418 . TGGGGCCCGCTGACCCGGCCGA T . . ANN=|disruptive_inframe_deletion|MODERATE|KIAA1644|ENSG00000138944|transcript|ENST00000381176|protein_coding|4/5|c.468_488delTCGGCCGGGTCAGCGGGCCCC|p.Arg157_Pro163del|621/6751|468/600|156/199||,|sequence_feature|LOW|KIAA1644|ENSG00000138944|topological_domain:Cytoplasmic|ENST00000381176|protein_coding|4/5|c.468_488delTCGGCCGGGTCAGCGGGCCCC|||||| 22 44681612 . A G . . ANN=G|synonymous_variant|LOW|KIAA1644|ENSG00000138944|transcript|ENST00000381176|protein_coding|4/5|c.295T>C|p.Leu99Leu|428/6751|295/600|99/199||,G|sequence_feature|LOW|KIAA1644|ENSG00000138944|transmembrane_region:Transmembrane_region|ENST00000381176|protein_coding|4/5|c.295T>C|||||| 22 44681613 . G A . . ANN=A|synonymous_variant|LOW|KIAA1644|ENSG00000138944|transcript|ENST00000381176|protein_coding|4/5|c.294C>T|p.Ala98Ala|427/6751|294/600|98/199||,A|sequence_feature|LOW|KIAA1644|ENSG00000138944|transmembrane_region:Transmembrane_region|ENST00000381176|protein_coding|4/5|c.294C>T|||||| 22 44681630 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|KIAA1644|ENSG00000138944|transcript|ENST00000381176|protein_coding|3/4|c.282-5C>T||||||,A|sequence_feature|LOW|KIAA1644|ENSG00000138944|topological_domain:Extracellular|ENST00000381176|protein_coding|4/5|c.282-5C>T||||||,A|sequence_feature|LOW|KIAA1644|ENSG00000138944|topological_domain:Extracellular|ENST00000381176|protein_coding|3/5|c.282-5C>T|||||| 22 44681644 . G T . . ANN=T|sequence_feature|LOW|KIAA1644|ENSG00000138944|topological_domain:Extracellular|ENST00000381176|protein_coding|4/5|c.282-19C>A||||||,T|sequence_feature|LOW|KIAA1644|ENSG00000138944|topological_domain:Extracellular|ENST00000381176|protein_coding|3/5|c.282-19C>A||||||,T|intron_variant|MODIFIER|KIAA1644|ENSG00000138944|transcript|ENST00000381176|protein_coding|3/4|c.282-19C>A|||||| 22 44681674 . C T . . ANN=T|sequence_feature|LOW|KIAA1644|ENSG00000138944|topological_domain:Extracellular|ENST00000381176|protein_coding|4/5|c.282-49G>A||||||,T|sequence_feature|LOW|KIAA1644|ENSG00000138944|topological_domain:Extracellular|ENST00000381176|protein_coding|3/5|c.282-49G>A||||||,T|intron_variant|MODIFIER|KIAA1644|ENSG00000138944|transcript|ENST00000381176|protein_coding|3/4|c.282-49G>A|||||| 22 44692540 . A G . . ANN=G|sequence_feature|LOW|KIAA1644|ENSG00000138944|topological_domain:Extracellular|ENST00000381176|protein_coding|4/5|c.281+12T>C||||||,G|sequence_feature|LOW|KIAA1644|ENSG00000138944|topological_domain:Extracellular|ENST00000381176|protein_coding|3/5|c.281+12T>C||||||,G|intron_variant|MODIFIER|KIAA1644|ENSG00000138944|transcript|ENST00000381176|protein_coding|3/4|c.281+12T>C|||||| 22 44692689 . G T . . ANN=T|synonymous_variant|LOW|KIAA1644|ENSG00000138944|transcript|ENST00000381176|protein_coding|3/5|c.144C>A|p.Pro48Pro|277/6751|144/600|48/199||,T|sequence_feature|LOW|KIAA1644|ENSG00000138944|topological_domain:Extracellular|ENST00000381176|protein_coding|4/5|c.144C>A||||||,T|sequence_feature|LOW|KIAA1644|ENSG00000138944|topological_domain:Extracellular|ENST00000381176|protein_coding|3/5|c.144C>A|||||| 22 44692780 . C T . . ANN=T|sequence_feature|LOW|KIAA1644|ENSG00000138944|signal_peptide|ENST00000381176|protein_coding|2/5|c.68-15G>A||||||,T|sequence_feature|LOW|KIAA1644|ENSG00000138944|signal_peptide|ENST00000381176|protein_coding|3/5|c.68-15G>A||||||,T|intron_variant|MODIFIER|KIAA1644|ENSG00000138944|transcript|ENST00000381176|protein_coding|2/4|c.68-15G>A|||||| 22 44692800 . C G . . ANN=G|sequence_feature|LOW|KIAA1644|ENSG00000138944|signal_peptide|ENST00000381176|protein_coding|2/5|c.68-35G>C||||||,G|sequence_feature|LOW|KIAA1644|ENSG00000138944|signal_peptide|ENST00000381176|protein_coding|3/5|c.68-35G>C||||||,G|intron_variant|MODIFIER|KIAA1644|ENSG00000138944|transcript|ENST00000381176|protein_coding|2/4|c.68-35G>C|||||| 22 44692815 . G C . . ANN=C|sequence_feature|LOW|KIAA1644|ENSG00000138944|signal_peptide|ENST00000381176|protein_coding|2/5|c.68-50C>G||||||,C|sequence_feature|LOW|KIAA1644|ENSG00000138944|signal_peptide|ENST00000381176|protein_coding|3/5|c.68-50C>G||||||,C|intron_variant|MODIFIER|KIAA1644|ENSG00000138944|transcript|ENST00000381176|protein_coding|2/4|c.68-50C>G|||||| 22 44696721 . C T . . ANN=T|sequence_feature|LOW|KIAA1644|ENSG00000138944|signal_peptide|ENST00000381176|protein_coding|2/5|c.67+38G>A||||||,T|sequence_feature|LOW|KIAA1644|ENSG00000138944|signal_peptide|ENST00000381176|protein_coding|3/5|c.67+38G>A||||||,T|intron_variant|MODIFIER|KIAA1644|ENSG00000138944|transcript|ENST00000381176|protein_coding|2/4|c.67+38G>A|||||| 22 44696732 . C T . . ANN=T|sequence_feature|LOW|KIAA1644|ENSG00000138944|signal_peptide|ENST00000381176|protein_coding|2/5|c.67+27G>A||||||,T|sequence_feature|LOW|KIAA1644|ENSG00000138944|signal_peptide|ENST00000381176|protein_coding|3/5|c.67+27G>A||||||,T|intron_variant|MODIFIER|KIAA1644|ENSG00000138944|transcript|ENST00000381176|protein_coding|2/4|c.67+27G>A|||||| 22 44893302 . G T . . ANN=T|synonymous_variant|LOW|LDOC1L|ENSG00000188636|transcript|ENST00000341255|protein_coding|2/2|c.135C>A|p.Thr45Thr|645/5495|135/720|45/239||,T|sequence_feature|LOW|LDOC1L|ENSG00000188636|coiled-coil_region|ENST00000341255|protein_coding|2/2|c.135C>A|||||| 22 44893335 . G A . . ANN=A|synonymous_variant|LOW|LDOC1L|ENSG00000188636|transcript|ENST00000341255|protein_coding|2/2|c.102C>T|p.Leu34Leu|612/5495|102/720|34/239||,A|sequence_feature|LOW|LDOC1L|ENSG00000188636|coiled-coil_region|ENST00000341255|protein_coding|2/2|c.102C>T|||||| 22 44893337 . G T . . ANN=T|missense_variant|MODERATE|LDOC1L|ENSG00000188636|transcript|ENST00000341255|protein_coding|2/2|c.100C>A|p.Leu34Ile|610/5495|100/720|34/239||,T|sequence_feature|LOW|LDOC1L|ENSG00000188636|coiled-coil_region|ENST00000341255|protein_coding|2/2|c.100C>A|||||| 22 44893383 . C T . . ANN=T|synonymous_variant|LOW|LDOC1L|ENSG00000188636|transcript|ENST00000341255|protein_coding|2/2|c.54G>A|p.Pro18Pro|564/5495|54/720|18/239|| 22 45110443 . T G . . ANN=G|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000403581|protein_coding|6/10|c.204-28T>G||||||,G|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000403581|protein_coding|4/10|c.204-28T>G||||||,G|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000403581|protein_coding|3/10|c.204-28T>G||||||,G|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000403581|protein_coding|5/10|c.204-28T>G||||||,G|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000006251|protein_coding|5/9|c.108-28T>G||||||,G|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000006251|protein_coding|3/9|c.108-28T>G||||||,G|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000006251|protein_coding|2/9|c.108-28T>G||||||,G|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000006251|protein_coding|4/9|c.108-28T>G||||||,G|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000336985|protein_coding|4/8|c.135-28T>G||||||,G|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000336985|protein_coding|1/8|c.135-28T>G||||||,G|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000336985|protein_coding|2/8|c.135-28T>G||||||,G|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000336985|protein_coding|3/8|c.135-28T>G||||||,G|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|3/9|c.204-28T>G||||||,G|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|1/16|c.135-28T>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|1/16|c.135-28T>G||||||,G|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding|2/8|c.108-28T>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript|1/7|n.261-28T>G||||||,G|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|2/8|c.108-28T>G||||||,G|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000459857|processed_transcript|2/5|n.274-28T>G||||||,G|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492289|processed_transcript|2/5|n.225-28T>G||||||,G|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|1/7|c.135-28T>G||||||,G|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding|1/5|c.135-28T>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding|2/8|c.108-28T>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|1/7|n.135-28T>G||||||,G|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|1/14|c.135-28T>G||||||,G|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|1/6|n.108-28T>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|1/14|c.108-28T>G||||||,G|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|1/6|n.90-28T>G|||||| 22 45110464 . C A . . ANN=A|splice_region_variant&intron_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|3/9|c.204-7C>A||||||,A|splice_region_variant&intron_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|1/16|c.135-7C>A||||||,A|splice_region_variant&intron_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|1/16|c.135-7C>A||||||,A|splice_region_variant&intron_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding|2/8|c.108-7C>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|splice_region_variant&intron_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript|1/7|n.261-7C>A||||||,A|splice_region_variant&intron_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|2/8|c.108-7C>A||||||,A|splice_region_variant&intron_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000459857|processed_transcript|2/5|n.274-7C>A||||||,A|splice_region_variant&intron_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000492289|processed_transcript|2/5|n.225-7C>A||||||,A|splice_region_variant&intron_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|1/7|c.135-7C>A||||||,A|splice_region_variant&intron_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding|1/5|c.135-7C>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|splice_region_variant&intron_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding|2/8|c.108-7C>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|splice_region_variant&intron_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|1/7|n.135-7C>A||||||,A|splice_region_variant&intron_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|1/14|c.135-7C>A||||||,A|splice_region_variant&intron_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|1/6|n.108-7C>A||||||,A|splice_region_variant&intron_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|1/14|c.108-7C>A||||||,A|splice_region_variant&intron_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|1/6|n.90-7C>A||||||,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000403581|protein_coding|6/10|c.204-7C>A||||||,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000403581|protein_coding|4/10|c.204-7C>A||||||,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000403581|protein_coding|3/10|c.204-7C>A||||||,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000403581|protein_coding|5/10|c.204-7C>A||||||,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000006251|protein_coding|5/9|c.108-7C>A||||||,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000006251|protein_coding|3/9|c.108-7C>A||||||,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000006251|protein_coding|2/9|c.108-7C>A||||||,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000006251|protein_coding|4/9|c.108-7C>A||||||,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000336985|protein_coding|4/8|c.135-7C>A||||||,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000336985|protein_coding|1/8|c.135-7C>A||||||,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000336985|protein_coding|2/8|c.135-7C>A||||||,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000336985|protein_coding|3/8|c.135-7C>A|||||| 22 45110585 . T C . . ANN=C|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000403581|protein_coding|6/10|c.284+34T>C||||||,C|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000403581|protein_coding|4/10|c.284+34T>C||||||,C|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000403581|protein_coding|3/10|c.284+34T>C||||||,C|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000403581|protein_coding|5/10|c.284+34T>C||||||,C|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000006251|protein_coding|5/9|c.188+34T>C||||||,C|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000006251|protein_coding|3/9|c.188+34T>C||||||,C|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000006251|protein_coding|2/9|c.188+34T>C||||||,C|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000006251|protein_coding|4/9|c.188+34T>C||||||,C|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000336985|protein_coding|4/8|c.215+34T>C||||||,C|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000336985|protein_coding|1/8|c.215+34T>C||||||,C|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000336985|protein_coding|2/8|c.215+34T>C||||||,C|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000336985|protein_coding|3/8|c.215+34T>C||||||,C|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|4/9|c.284+34T>C||||||,C|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|2/16|c.215+34T>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|2/16|c.215+34T>C||||||,C|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding|3/8|c.188+34T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript|2/7|n.341+34T>C||||||,C|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|3/8|c.188+34T>C||||||,C|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000459857|processed_transcript|3/5|n.354+34T>C||||||,C|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492289|processed_transcript|3/5|n.305+34T>C||||||,C|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|2/7|c.215+34T>C||||||,C|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding|2/5|c.215+34T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding|3/8|c.188+34T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|2/7|n.215+34T>C||||||,C|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|2/14|c.215+34T>C||||||,C|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|2/6|n.188+34T>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|2/14|c.188+34T>C||||||,C|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|2/6|n.170+34T>C|||||| 22 45121097 . C T . . ANN=T|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000403581|protein_coding|6/10|c.285-27C>T||||||,T|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000403581|protein_coding|4/10|c.285-27C>T||||||,T|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000403581|protein_coding|3/10|c.285-27C>T||||||,T|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000403581|protein_coding|5/10|c.285-27C>T||||||,T|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000006251|protein_coding|5/9|c.189-27C>T||||||,T|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000006251|protein_coding|3/9|c.189-27C>T||||||,T|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000006251|protein_coding|2/9|c.189-27C>T||||||,T|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000006251|protein_coding|4/9|c.189-27C>T||||||,T|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000336985|protein_coding|4/8|c.216-27C>T||||||,T|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000336985|protein_coding|1/8|c.216-27C>T||||||,T|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000336985|protein_coding|2/8|c.216-27C>T||||||,T|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000336985|protein_coding|3/8|c.216-27C>T||||||,T|upstream_gene_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron||n.-1C>T|||||29|,T|upstream_gene_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding||c.-3C>T|||||44|,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|4/9|c.285-27C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|2/16|c.216-27C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|2/16|c.216-27C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding|3/8|c.189-27C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript|2/7|n.342-27C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|3/8|c.189-27C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000459857|processed_transcript|3/5|n.355-27C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492289|processed_transcript|3/5|n.306-27C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|2/7|c.216-27C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding|2/5|c.216-27C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding|3/8|c.189-27C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|2/7|n.216-27C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|2/14|c.216-27C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|2/6|n.189-27C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|2/14|c.189-27C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|2/6|n.171-1360C>T|||||| 22 45121101 . CTT C . . ANN=|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000403581|protein_coding|6/10|c.285-22_285-21delTT||||||,|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000403581|protein_coding|4/10|c.285-22_285-21delTT||||||,|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000403581|protein_coding|3/10|c.285-22_285-21delTT||||||,|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000403581|protein_coding|5/10|c.285-22_285-21delTT||||||,|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000006251|protein_coding|5/9|c.189-22_189-21delTT||||||,|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000006251|protein_coding|3/9|c.189-22_189-21delTT||||||,|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000006251|protein_coding|2/9|c.189-22_189-21delTT||||||,|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000006251|protein_coding|4/9|c.189-22_189-21delTT||||||,|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000336985|protein_coding|4/8|c.216-22_216-21delTT||||||,|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000336985|protein_coding|1/8|c.216-22_216-21delTT||||||,|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000336985|protein_coding|2/8|c.216-22_216-21delTT||||||,|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000336985|protein_coding|3/8|c.216-22_216-21delTT||||||,|upstream_gene_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron||n.-1_-1delTT|||||24|,|upstream_gene_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding||c.-3_-3delTT|||||39|,|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|4/9|c.285-22_285-21delTT||||||,|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|2/16|c.216-22_216-21delTT||||||,|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|2/16|c.216-22_216-21delTT||||||,|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding|3/8|c.189-22_189-21delTT||||||WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript|2/7|n.342-22_342-21delTT||||||,|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|3/8|c.189-22_189-21delTT||||||,|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000459857|processed_transcript|3/5|n.355-22_355-21delTT||||||,|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492289|processed_transcript|3/5|n.306-22_306-21delTT||||||,|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|2/7|c.216-22_216-21delTT||||||,|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding|2/5|c.216-22_216-21delTT||||||WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding|3/8|c.189-22_189-21delTT||||||WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|2/7|n.216-22_216-21delTT||||||,|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|2/14|c.216-22_216-21delTT||||||,|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|2/6|n.189-22_189-21delTT||||||,|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|2/14|c.189-22_189-21delTT||||||,|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|2/6|n.171-1355_171-1354delTT|||||| 22 45121160 . G A . . ANN=A|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|5/10|c.321G>A|p.Thr107Thr|930/2279|321/1236|107/411||,A|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|3/17|c.252G>A|p.Thr84Thr|252/2043|252/1932|84/643||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|3/17|c.252G>A|p.Thr84Thr|252/2043|252/1932|84/643||,A|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding|4/9|c.225G>A|p.Thr75Thr|328/905|225/802|75/266||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|4/9|c.225G>A|p.Thr75Thr|419/1767|225/1140|75/379||,A|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|3/8|c.252G>A|p.Thr84Thr|529/1878|252/1167|84/388||,A|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding|3/6|c.252G>A|p.Thr84Thr|509/789|252/532|84/176||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding|4/9|c.225G>A|p.Thr75Thr|427/881|225/679|75/225||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|3/15|c.252G>A|p.Thr84Thr|494/2013|252/1695|84/564||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|3/15|c.225G>A|p.Thr75Thr|225/1857|225/1668|75/555||,A|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|1/13|c.18G>A|p.Thr6Thr|20/1590|18/1512|6/503||,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000403581|protein_coding|6/10|c.321G>A||||||,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000403581|protein_coding|4/10|c.321G>A||||||,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000403581|protein_coding|3/10|c.321G>A||||||,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000403581|protein_coding|5/10|c.321G>A||||||,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000006251|protein_coding|5/9|c.225G>A||||||,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000006251|protein_coding|3/9|c.225G>A||||||,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000006251|protein_coding|2/9|c.225G>A||||||,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000006251|protein_coding|4/9|c.225G>A||||||,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000336985|protein_coding|4/8|c.252G>A||||||,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000336985|protein_coding|1/8|c.252G>A||||||,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000336985|protein_coding|2/8|c.252G>A||||||,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000336985|protein_coding|3/8|c.252G>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|2/6|n.171-1297G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript|3/8|n.378G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000459857|processed_transcript|4/6|n.391G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492289|processed_transcript|4/6|n.342G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|3/8|n.252G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|3/7|n.225G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|1/6|n.35G>A|||||| 22 45121195 . A G . . ANN=G|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000403581|protein_coding|6/10|c.333+23A>G||||||,G|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000403581|protein_coding|4/10|c.333+23A>G||||||,G|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000403581|protein_coding|3/10|c.333+23A>G||||||,G|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000403581|protein_coding|5/10|c.333+23A>G||||||,G|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000006251|protein_coding|5/9|c.237+23A>G||||||,G|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000006251|protein_coding|3/9|c.237+23A>G||||||,G|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000006251|protein_coding|2/9|c.237+23A>G||||||,G|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000006251|protein_coding|4/9|c.237+23A>G||||||,G|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000336985|protein_coding|4/8|c.264+23A>G||||||,G|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000336985|protein_coding|1/8|c.264+23A>G||||||,G|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000336985|protein_coding|2/8|c.264+23A>G||||||,G|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000336985|protein_coding|3/8|c.264+23A>G||||||,G|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|5/9|c.333+23A>G||||||,G|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|3/16|c.264+23A>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|3/16|c.264+23A>G||||||,G|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding|4/8|c.237+23A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript|3/7|n.390+23A>G||||||,G|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|4/8|c.237+23A>G||||||,G|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000459857|processed_transcript|4/5|n.407+19A>G||||||,G|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492289|processed_transcript|4/5|n.354+23A>G||||||,G|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|3/7|c.264+23A>G||||||,G|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding|3/5|c.264+23A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding|4/8|c.237+23A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|3/7|n.264+23A>G||||||,G|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|3/14|c.264+23A>G||||||,G|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|3/6|n.237+23A>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|3/14|c.237+23A>G||||||,G|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|2/6|n.171-1262A>G||||||,G|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|1/5|n.47+23A>G||||||,G|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|1/12|c.30+23A>G|||||| 22 45122428 . G A . . ANN=A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000403581|protein_coding|6/10|c.334-29G>A||||||,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000403581|protein_coding|4/10|c.334-29G>A||||||,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000403581|protein_coding|3/10|c.334-29G>A||||||,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000403581|protein_coding|5/10|c.334-29G>A||||||,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000006251|protein_coding|5/9|c.238-29G>A||||||,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000006251|protein_coding|3/9|c.238-29G>A||||||,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000006251|protein_coding|2/9|c.238-29G>A||||||,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000006251|protein_coding|4/9|c.238-29G>A||||||,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000336985|protein_coding|4/8|c.265-29G>A||||||,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000336985|protein_coding|1/8|c.265-29G>A||||||,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000336985|protein_coding|2/8|c.265-29G>A||||||,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000336985|protein_coding|3/8|c.265-29G>A||||||,A|upstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000455389|protein_coding||c.-3G>A|||||4256|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000495017|retained_intron||n.-1G>A|||||4336|,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|5/9|c.334-29G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|3/16|c.265-29G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|3/16|c.265-29G>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding|4/8|c.238-29G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript|3/7|n.391-29G>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|4/8|c.238-29G>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000459857|processed_transcript|4/5|n.408-29G>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492289|processed_transcript|4/5|n.355-29G>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|3/7|c.265-29G>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding|3/5|c.265-29G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding|4/8|c.238-29G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|3/7|n.265-29G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|3/14|c.265-29G>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|3/6|n.238-29G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|3/14|c.238-29G>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|2/6|n.171-29G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|1/5|n.48-29G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|1/12|c.31-29G>A|||||| 22 45122448 . T A . . ANN=A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000403581|protein_coding|6/10|c.334-9T>A||||||,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000403581|protein_coding|4/10|c.334-9T>A||||||,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000403581|protein_coding|3/10|c.334-9T>A||||||,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000403581|protein_coding|5/10|c.334-9T>A||||||,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000006251|protein_coding|5/9|c.238-9T>A||||||,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000006251|protein_coding|3/9|c.238-9T>A||||||,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000006251|protein_coding|2/9|c.238-9T>A||||||,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000006251|protein_coding|4/9|c.238-9T>A||||||,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000336985|protein_coding|4/8|c.265-9T>A||||||,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000336985|protein_coding|1/8|c.265-9T>A||||||,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000336985|protein_coding|2/8|c.265-9T>A||||||,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000336985|protein_coding|3/8|c.265-9T>A||||||,A|upstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000455389|protein_coding||c.-3T>A|||||4236|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000495017|retained_intron||n.-1T>A|||||4316|,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|5/9|c.334-9T>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|3/16|c.265-9T>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|3/16|c.265-9T>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding|4/8|c.238-9T>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript|3/7|n.391-9T>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|4/8|c.238-9T>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000459857|processed_transcript|4/5|n.408-9T>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492289|processed_transcript|4/5|n.355-9T>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|3/7|c.265-9T>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding|3/5|c.265-9T>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding|4/8|c.238-9T>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|3/7|n.265-9T>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|3/14|c.265-9T>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|3/6|n.238-9T>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|3/14|c.238-9T>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|2/6|n.171-9T>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|1/5|n.48-9T>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|1/12|c.31-9T>A|||||| 22 45122483 . G C . . ANN=C|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|6/10|c.360G>C|p.Val120Val|969/2279|360/1236|120/411||,C|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|4/17|c.291G>C|p.Val97Val|291/2043|291/1932|97/643||,C|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|4/17|c.291G>C|p.Val97Val|291/2043|291/1932|97/643||,C|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding|5/9|c.264G>C|p.Val88Val|367/905|264/802|88/266||WARNING_TRANSCRIPT_INCOMPLETE,C|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|5/9|c.264G>C|p.Val88Val|458/1767|264/1140|88/379||,C|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|4/8|c.291G>C|p.Val97Val|568/1878|291/1167|97/388||,C|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding|4/6|c.291G>C|p.Val97Val|548/789|291/532|97/176||WARNING_TRANSCRIPT_INCOMPLETE,C|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding|5/9|c.264G>C|p.Val88Val|466/881|264/679|88/225||WARNING_TRANSCRIPT_INCOMPLETE,C|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|4/15|c.291G>C|p.Val97Val|533/2013|291/1695|97/564||,C|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|4/15|c.264G>C|p.Val88Val|264/1857|264/1668|88/555||,C|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|2/13|c.57G>C|p.Val19Val|59/1590|57/1512|19/503||,C|upstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000455389|protein_coding||c.-3G>C|||||4201|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000495017|retained_intron||n.-1G>C|||||4281|,C|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript|4/8|n.417G>C||||||,C|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000459857|processed_transcript|5/6|n.434G>C||||||,C|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492289|processed_transcript|5/6|n.381G>C||||||,C|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|4/8|n.291G>C||||||,C|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|4/7|n.264G>C||||||,C|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|3/7|n.197G>C||||||,C|non_coding_exon_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|2/6|n.74G>C|||||| 22 45122534 . C G . . ANN=G|upstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000455389|protein_coding||c.-3C>G|||||4150|WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000495017|retained_intron||n.-1C>G|||||4230|,G|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|6/9|c.391+20C>G||||||,G|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|4/16|c.322+20C>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|4/16|c.322+20C>G||||||,G|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding|5/8|c.295+20C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript|4/7|n.448+20C>G||||||,G|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|5/8|c.295+20C>G||||||,G|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000459857|processed_transcript|5/5|n.465+20C>G||||||,G|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492289|processed_transcript|5/5|n.412+20C>G||||||,G|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|4/7|c.322+20C>G||||||,G|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding|4/5|c.322+20C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding|5/8|c.295+20C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|4/7|n.322+20C>G||||||,G|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|4/14|c.322+20C>G||||||,G|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|4/6|n.295+20C>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|4/14|c.295+20C>G||||||,G|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|3/6|n.228+20C>G||||||,G|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|2/5|n.105+20C>G||||||,G|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|2/12|c.88+20C>G|||||| 22 45122535 . G A . . ANN=A|upstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000455389|protein_coding||c.-3G>A|||||4149|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000495017|retained_intron||n.-1G>A|||||4229|,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|6/9|c.391+21G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|4/16|c.322+21G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|4/16|c.322+21G>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding|5/8|c.295+21G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript|4/7|n.448+21G>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|5/8|c.295+21G>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000459857|processed_transcript|5/5|n.465+21G>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492289|processed_transcript|5/5|n.412+21G>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|4/7|c.322+21G>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding|4/5|c.322+21G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding|5/8|c.295+21G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|4/7|n.322+21G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|4/14|c.322+21G>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|4/6|n.295+21G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|4/14|c.295+21G>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|3/6|n.228+21G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|2/5|n.105+21G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|2/12|c.88+21G>A|||||| 22 45122537 . C T . . ANN=T|upstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000455389|protein_coding||c.-3C>T|||||4147|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000495017|retained_intron||n.-1C>T|||||4227|,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|6/9|c.391+23C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|4/16|c.322+23C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|4/16|c.322+23C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding|5/8|c.295+23C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript|4/7|n.448+23C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|5/8|c.295+23C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000459857|processed_transcript|5/5|n.465+23C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492289|processed_transcript|5/5|n.412+23C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|4/7|c.322+23C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding|4/5|c.322+23C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding|5/8|c.295+23C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|4/7|n.322+23C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|4/14|c.322+23C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|4/6|n.295+23C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|4/14|c.295+23C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|3/6|n.228+23C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|2/5|n.105+23C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|2/12|c.88+23C>T|||||| 22 45127568 . C T . . ANN=T|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding|5/6|c.332C>T|p.Pro111Leu|589/789|332/532|111/176||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000475850|retained_intron||n.-1C>T|||||2420|,T|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000459857|processed_transcript||n.*560C>T|||||2280|,T|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492289|processed_transcript||n.*735C>T|||||756|,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|6/9|c.392-42C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|4/16|c.323-42C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|4/16|c.323-42C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding|5/8|c.296-42C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript|4/7|n.449-42C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|5/8|c.296-42C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|4/7|c.323-42C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding|5/8|c.296-42C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|4/7|n.323-47C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|4/14|c.322+5054C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|4/6|n.296-47C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|4/14|c.295+5054C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|3/6|n.229-42C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|2/5|n.105+5054C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|2/12|c.88+5054C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000455389|protein_coding|1/4|c.200-42C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000495017|retained_intron|1/4|n.805C>T|||||| 22 45127569 . G A . . ANN=A|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding|5/6|c.333G>A|p.Pro111Pro|590/789|333/532|111/176||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000475850|retained_intron||n.-1G>A|||||2419|,A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000459857|processed_transcript||n.*560G>A|||||2281|,A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492289|processed_transcript||n.*735G>A|||||757|,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|6/9|c.392-41G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|4/16|c.323-41G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|4/16|c.323-41G>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding|5/8|c.296-41G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript|4/7|n.449-41G>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|5/8|c.296-41G>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|4/7|c.323-41G>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding|5/8|c.296-41G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|4/7|n.323-46G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|4/14|c.322+5055G>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|4/6|n.296-46G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|4/14|c.295+5055G>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|3/6|n.229-41G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|2/5|n.105+5055G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|2/12|c.88+5055G>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000455389|protein_coding|1/4|c.200-41G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000495017|retained_intron|1/4|n.806G>A|||||| 22 45127572 . C T . . ANN=T|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding|5/6|c.336C>T|p.Arg112Arg|593/789|336/532|112/176||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000475850|retained_intron||n.-1C>T|||||2416|,T|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000459857|processed_transcript||n.*560C>T|||||2284|,T|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492289|processed_transcript||n.*735C>T|||||760|,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|6/9|c.392-38C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|4/16|c.323-38C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|4/16|c.323-38C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding|5/8|c.296-38C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript|4/7|n.449-38C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|5/8|c.296-38C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|4/7|c.323-38C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding|5/8|c.296-38C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|4/7|n.323-43C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|4/14|c.322+5058C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|4/6|n.296-43C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|4/14|c.295+5058C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|3/6|n.229-38C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|2/5|n.105+5058C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|2/12|c.88+5058C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000455389|protein_coding|1/4|c.200-38C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000495017|retained_intron|1/4|n.809C>T|||||| 22 45127581 . C T . . ANN=T|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding|5/6|c.345C>T|p.Gly115Gly|602/789|345/532|115/176||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000475850|retained_intron||n.-1C>T|||||2407|,T|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000459857|processed_transcript||n.*560C>T|||||2293|,T|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492289|processed_transcript||n.*735C>T|||||769|,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|6/9|c.392-29C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|4/16|c.323-29C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|4/16|c.323-29C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding|5/8|c.296-29C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript|4/7|n.449-29C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|5/8|c.296-29C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|4/7|c.323-29C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding|5/8|c.296-29C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|4/7|n.323-34C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|4/14|c.322+5067C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|4/6|n.296-34C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|4/14|c.295+5067C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|3/6|n.229-29C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|2/5|n.105+5067C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|2/12|c.88+5067C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000455389|protein_coding|1/4|c.200-29C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000495017|retained_intron|1/4|n.818C>T|||||| 22 45127739 . C T . . ANN=T|upstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000475850|retained_intron||n.-1C>T|||||2249|,T|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000459857|processed_transcript||n.*560C>T|||||2451|,T|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492289|processed_transcript||n.*735C>T|||||927|,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|7/9|c.483+38C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|5/16|c.414+38C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|5/16|c.414+38C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding|6/8|c.387+38C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript|5/7|n.540+38C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|6/8|c.387+38C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|5/7|c.414+38C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding|5/5|c.465+38C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding|6/8|c.387+38C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|5/7|n.*40+38C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|4/14|c.322+5225C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|5/6|n.*40+38C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|4/14|c.295+5225C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|4/6|n.320+38C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|2/5|n.105+5225C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|2/12|c.88+5225C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000455389|protein_coding|2/4|c.291+38C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000495017|retained_intron|1/3|n.938+38C>T|||||| 22 45128114 . G A . . ANN=A|upstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000475850|retained_intron||n.-1G>A|||||1874|,A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000459857|processed_transcript||n.*560G>A|||||2826|,A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492289|processed_transcript||n.*735G>A|||||1302|,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|7/9|c.484-17G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|5/16|c.415-17G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|5/16|c.415-17G>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding|6/8|c.388-17G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript|5/7|n.541-17G>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|6/8|c.388-17G>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|5/7|c.415-17G>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding|5/5|c.466-17G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding|6/8|c.388-17G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|5/7|n.*41-17G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|4/14|c.322+5600G>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|5/6|n.*41-17G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|4/14|c.295+5600G>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|4/6|n.321-17G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|2/5|n.105+5600G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|2/12|c.88+5600G>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000455389|protein_coding|2/4|c.292-17G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000495017|retained_intron|1/3|n.939-17G>A|||||| 22 45128218 . C T . . ANN=T|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|8/10|c.571C>T|p.Arg191Trp|1180/2279|571/1236|191/411||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|6/17|c.502C>T|p.Arg168Trp|502/2043|502/1932|168/643||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|6/17|c.502C>T|p.Arg168Trp|502/2043|502/1932|168/643||,T|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding|7/9|c.475C>T|p.Arg159Trp|578/905|475/802|159/266||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|7/9|c.475C>T|p.Arg159Trp|669/1767|475/1140|159/379||,T|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|6/8|c.502C>T|p.Arg168Trp|779/1878|502/1167|168/388||,T|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding|7/9|c.475C>T|p.Arg159Trp|677/881|475/679|159/225||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000455389|protein_coding|3/5|c.379C>T|p.Arg127Trp|381/1431|379/1044|127/347||WARNING_TRANSCRIPT_NO_START_CODON,T|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|6/8|n.*128C>T|||||557|,T|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|6/7|n.*128C>T|||||557|,T|upstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000475850|retained_intron||n.-1C>T|||||1770|,T|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000459857|processed_transcript||n.*560C>T|||||2930|,T|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492289|processed_transcript||n.*735C>T|||||1406|,T|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding||c.*789C>T|||||21|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|4/14|c.322+5704C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|4/14|c.295+5704C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|2/5|n.105+5704C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|2/12|c.88+5704C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript|6/8|n.628C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|6/8|n.*128C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|6/7|n.*128C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|5/7|n.408C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000495017|retained_intron|2/4|n.1026C>T|||||| 22 45128231 . G A . . ANN=A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|8/10|c.584G>A|p.Arg195His|1193/2279|584/1236|195/411||,A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|6/17|c.515G>A|p.Arg172His|515/2043|515/1932|172/643||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|6/17|c.515G>A|p.Arg172His|515/2043|515/1932|172/643||,A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding|7/9|c.488G>A|p.Arg163His|591/905|488/802|163/266||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|7/9|c.488G>A|p.Arg163His|682/1767|488/1140|163/379||,A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|6/8|c.515G>A|p.Arg172His|792/1878|515/1167|172/388||,A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding|7/9|c.488G>A|p.Arg163His|690/881|488/679|163/225||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000455389|protein_coding|3/5|c.392G>A|p.Arg131His|394/1431|392/1044|131/347||WARNING_TRANSCRIPT_NO_START_CODON,A|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|6/8|n.*141G>A|||||570|,A|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|6/7|n.*141G>A|||||570|,A|upstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000475850|retained_intron||n.-1G>A|||||1757|,A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000459857|processed_transcript||n.*560G>A|||||2943|,A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492289|processed_transcript||n.*735G>A|||||1419|,A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding||c.*789G>A|||||34|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|4/14|c.322+5717G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|4/14|c.295+5717G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|2/5|n.105+5717G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|2/12|c.88+5717G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript|6/8|n.641G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|6/8|n.*141G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|6/7|n.*141G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|5/7|n.421G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000495017|retained_intron|2/4|n.1039G>A|||||| 22 45128232 . T C . . ANN=C|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|8/10|c.585T>C|p.Arg195Arg|1194/2279|585/1236|195/411||,C|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|6/17|c.516T>C|p.Arg172Arg|516/2043|516/1932|172/643||,C|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|6/17|c.516T>C|p.Arg172Arg|516/2043|516/1932|172/643||,C|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding|7/9|c.489T>C|p.Arg163Arg|592/905|489/802|163/266||WARNING_TRANSCRIPT_INCOMPLETE,C|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|7/9|c.489T>C|p.Arg163Arg|683/1767|489/1140|163/379||,C|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|6/8|c.516T>C|p.Arg172Arg|793/1878|516/1167|172/388||,C|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding|7/9|c.489T>C|p.Arg163Arg|691/881|489/679|163/225||WARNING_TRANSCRIPT_INCOMPLETE,C|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000455389|protein_coding|3/5|c.393T>C|p.Arg131Arg|395/1431|393/1044|131/347||WARNING_TRANSCRIPT_NO_START_CODON,C|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|6/8|n.*142T>C|||||571|,C|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|6/7|n.*142T>C|||||571|,C|upstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000475850|retained_intron||n.-1T>C|||||1756|,C|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000459857|processed_transcript||n.*560T>C|||||2944|,C|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492289|processed_transcript||n.*735T>C|||||1420|,C|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding||c.*789T>C|||||35|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|4/14|c.322+5718T>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|4/14|c.295+5718T>C||||||,C|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|2/5|n.105+5718T>C||||||,C|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|2/12|c.88+5718T>C||||||,C|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript|6/8|n.642T>C||||||,C|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|6/8|n.*142T>C||||||,C|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|6/7|n.*142T>C||||||,C|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|5/7|n.422T>C||||||,C|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000495017|retained_intron|2/4|n.1040T>C|||||| 22 45128233 . G A . . ANN=A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|8/10|c.586G>A|p.Val196Met|1195/2279|586/1236|196/411||,A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|6/17|c.517G>A|p.Val173Met|517/2043|517/1932|173/643||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|6/17|c.517G>A|p.Val173Met|517/2043|517/1932|173/643||,A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding|7/9|c.490G>A|p.Val164Met|593/905|490/802|164/266||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|7/9|c.490G>A|p.Val164Met|684/1767|490/1140|164/379||,A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|6/8|c.517G>A|p.Val173Met|794/1878|517/1167|173/388||,A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding|7/9|c.490G>A|p.Val164Met|692/881|490/679|164/225||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000455389|protein_coding|3/5|c.394G>A|p.Val132Met|396/1431|394/1044|132/347||WARNING_TRANSCRIPT_NO_START_CODON,A|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|6/8|n.*143G>A|||||572|,A|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|6/7|n.*143G>A|||||572|,A|upstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000475850|retained_intron||n.-1G>A|||||1755|,A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000459857|processed_transcript||n.*560G>A|||||2945|,A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492289|processed_transcript||n.*735G>A|||||1421|,A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding||c.*789G>A|||||36|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|4/14|c.322+5719G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|4/14|c.295+5719G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|2/5|n.105+5719G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|2/12|c.88+5719G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript|6/8|n.643G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|6/8|n.*143G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|6/7|n.*143G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|5/7|n.423G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000495017|retained_intron|2/4|n.1041G>A|||||| 22 45128288 . G C . . ANN=C|upstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000475850|retained_intron||n.-1G>C|||||1700|,C|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000459857|processed_transcript||n.*560G>C|||||3000|,C|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492289|processed_transcript||n.*735G>C|||||1476|,C|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding||c.*789G>C|||||91|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|8/9|c.624+17G>C||||||,C|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|6/16|c.555+17G>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|6/16|c.555+17G>C||||||,C|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding|7/8|c.528+17G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript|6/7|n.681+17G>C||||||,C|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|7/8|c.528+17G>C||||||,C|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|6/7|c.555+17G>C||||||,C|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding|7/8|c.528+17G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|6/7|n.*181+17G>C||||||,C|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|4/14|c.322+5774G>C||||||,C|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|6/6|n.*181+17G>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|4/14|c.295+5774G>C||||||,C|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|5/6|n.461+17G>C||||||,C|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|2/5|n.105+5774G>C||||||,C|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|2/12|c.88+5774G>C||||||,C|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000455389|protein_coding|3/4|c.432+17G>C||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000495017|retained_intron|2/3|n.1079+17G>C|||||| 22 45130867 . G C . . ANN=C|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492289|processed_transcript||n.*735G>C|||||4055|,C|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding||c.*789G>C|||||2670|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|8/9|c.625-40G>C||||||,C|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|6/16|c.556-40G>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|6/16|c.556-40G>C||||||,C|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding|7/8|c.529-40G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript|6/7|n.682-40G>C||||||,C|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|7/8|c.529-40G>C||||||,C|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|6/7|c.556-40G>C||||||,C|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding|7/8|c.529-40G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|6/7|n.*182-40G>C||||||,C|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|4/14|c.322+8353G>C||||||,C|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|6/6|n.*182-1785G>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|4/14|c.295+8353G>C||||||,C|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|5/6|n.462-40G>C||||||,C|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|2/5|n.105+8353G>C||||||,C|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|2/12|c.88+8353G>C||||||,C|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000455389|protein_coding|3/4|c.433-40G>C||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000495017|retained_intron|2/3|n.1080-40G>C||||||,C|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000475850|retained_intron|1/2|n.880G>C|||||| 22 45130873 . A G . . ANN=G|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492289|processed_transcript||n.*735A>G|||||4061|,G|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding||c.*789A>G|||||2676|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|8/9|c.625-34A>G||||||,G|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|6/16|c.556-34A>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|6/16|c.556-34A>G||||||,G|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding|7/8|c.529-34A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript|6/7|n.682-34A>G||||||,G|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|7/8|c.529-34A>G||||||,G|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|6/7|c.556-34A>G||||||,G|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding|7/8|c.529-34A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|6/7|n.*182-34A>G||||||,G|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|4/14|c.322+8359A>G||||||,G|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|6/6|n.*182-1779A>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|4/14|c.295+8359A>G||||||,G|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|5/6|n.462-34A>G||||||,G|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|2/5|n.105+8359A>G||||||,G|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|2/12|c.88+8359A>G||||||,G|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000455389|protein_coding|3/4|c.433-34A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000495017|retained_intron|2/3|n.1080-34A>G||||||,G|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000475850|retained_intron|1/2|n.886A>G|||||| 22 45130894 . C A . . ANN=A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492289|processed_transcript||n.*735C>A|||||4082|,A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding||c.*789C>A|||||2697|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|8/9|c.625-13C>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|6/16|c.556-13C>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|6/16|c.556-13C>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding|7/8|c.529-13C>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript|6/7|n.682-13C>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|7/8|c.529-13C>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|6/7|c.556-13C>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding|7/8|c.529-13C>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|6/7|n.*182-13C>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|4/14|c.322+8380C>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|6/6|n.*182-1758C>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|4/14|c.295+8380C>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|5/6|n.462-13C>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|2/5|n.105+8380C>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|2/12|c.88+8380C>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000455389|protein_coding|3/4|c.433-13C>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000495017|retained_intron|2/3|n.1080-13C>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000475850|retained_intron|1/2|n.907C>A|||||| 22 45130900 . C A . . ANN=A|splice_region_variant&intron_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|8/9|c.625-7C>A||||||,A|splice_region_variant&intron_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|6/16|c.556-7C>A||||||,A|splice_region_variant&intron_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|6/16|c.556-7C>A||||||,A|splice_region_variant&intron_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding|7/8|c.529-7C>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|splice_region_variant&intron_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript|6/7|n.682-7C>A||||||,A|splice_region_variant&intron_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|7/8|c.529-7C>A||||||,A|splice_region_variant&intron_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|6/7|c.556-7C>A||||||,A|splice_region_variant&intron_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding|7/8|c.529-7C>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|splice_region_variant&intron_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|6/7|n.*182-7C>A||||||,A|splice_region_variant&intron_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|5/6|n.462-7C>A||||||,A|splice_region_variant&intron_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000455389|protein_coding|3/4|c.433-7C>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|splice_region_variant&intron_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000495017|retained_intron|2/3|n.1080-7C>A||||||,A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492289|processed_transcript||n.*735C>A|||||4088|,A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding||c.*789C>A|||||2703|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|4/14|c.322+8386C>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|6/6|n.*182-1752C>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|4/14|c.295+8386C>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|2/5|n.105+8386C>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|2/12|c.88+8386C>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000475850|retained_intron|1/2|n.913C>A|||||| 22 45130932 . C T . . ANN=T|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|9/10|c.650C>T|p.Thr217Ile|1259/2279|650/1236|217/411||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|7/17|c.581C>T|p.Thr194Ile|581/2043|581/1932|194/643||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|7/17|c.581C>T|p.Thr194Ile|581/2043|581/1932|194/643||,T|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding|8/9|c.554C>T|p.Thr185Ile|657/905|554/802|185/266||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|8/9|c.554C>T|p.Thr185Ile|748/1767|554/1140|185/379||,T|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|7/8|c.581C>T|p.Thr194Ile|858/1878|581/1167|194/388||,T|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding|8/9|c.554C>T|p.Thr185Ile|756/881|554/679|185/225||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000455389|protein_coding|4/5|c.458C>T|p.Thr153Ile|460/1431|458/1044|153/347||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000403581|protein_coding|9/10|c.650C>T||||||,T|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000006251|protein_coding|8/9|c.554C>T||||||,T|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000336985|protein_coding|7/8|c.581C>T||||||,T|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|7/8|n.*207C>T|||||3271|,T|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492289|processed_transcript||n.*735C>T|||||4120|,T|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding||c.*789C>T|||||2735|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|4/14|c.322+8418C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|6/6|n.*182-1720C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|4/14|c.295+8418C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|2/5|n.105+8418C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|2/12|c.88+8418C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript|7/8|n.707C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|7/8|n.*207C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|6/7|n.487C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000495017|retained_intron|3/4|n.1105C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000475850|retained_intron|1/2|n.945C>T|||||| 22 45130947 . G A . . ANN=A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|9/10|c.665G>A|p.Arg222His|1274/2279|665/1236|222/411||,A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|7/17|c.596G>A|p.Arg199His|596/2043|596/1932|199/643||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|7/17|c.596G>A|p.Arg199His|596/2043|596/1932|199/643||,A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding|8/9|c.569G>A|p.Arg190His|672/905|569/802|190/266||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|8/9|c.569G>A|p.Arg190His|763/1767|569/1140|190/379||,A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|7/8|c.596G>A|p.Arg199His|873/1878|596/1167|199/388||,A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding|8/9|c.569G>A|p.Arg190His|771/881|569/679|190/225||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000455389|protein_coding|4/5|c.473G>A|p.Arg158His|475/1431|473/1044|158/347||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000403581|protein_coding|9/10|c.665G>A||||||,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000006251|protein_coding|8/9|c.569G>A||||||,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000336985|protein_coding|7/8|c.596G>A||||||,A|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|7/8|n.*222G>A|||||3286|,A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492289|processed_transcript||n.*735G>A|||||4135|,A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding||c.*789G>A|||||2750|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|4/14|c.322+8433G>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|6/6|n.*182-1705G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|4/14|c.295+8433G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|2/5|n.105+8433G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|2/12|c.88+8433G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript|7/8|n.722G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|7/8|n.*222G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|6/7|n.502G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000495017|retained_intron|3/4|n.1120G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000475850|retained_intron|1/2|n.960G>A|||||| 22 45130949 . C T . . ANN=T|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|9/10|c.667C>T|p.Leu223Leu|1276/2279|667/1236|223/411||,T|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|7/17|c.598C>T|p.Leu200Leu|598/2043|598/1932|200/643||,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|7/17|c.598C>T|p.Leu200Leu|598/2043|598/1932|200/643||,T|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding|8/9|c.571C>T|p.Leu191Leu|674/905|571/802|191/266||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|8/9|c.571C>T|p.Leu191Leu|765/1767|571/1140|191/379||,T|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|7/8|c.598C>T|p.Leu200Leu|875/1878|598/1167|200/388||,T|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding|8/9|c.571C>T|p.Leu191Leu|773/881|571/679|191/225||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000455389|protein_coding|4/5|c.475C>T|p.Leu159Leu|477/1431|475/1044|159/347||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000403581|protein_coding|9/10|c.667C>T||||||,T|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000006251|protein_coding|8/9|c.571C>T||||||,T|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000336985|protein_coding|7/8|c.598C>T||||||,T|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|7/8|n.*224C>T|||||3288|,T|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492289|processed_transcript||n.*735C>T|||||4137|,T|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding||c.*789C>T|||||2752|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|4/14|c.322+8435C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|6/6|n.*182-1703C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|4/14|c.295+8435C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|2/5|n.105+8435C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|2/12|c.88+8435C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript|7/8|n.724C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|7/8|n.*224C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|6/7|n.504C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000495017|retained_intron|3/4|n.1122C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000475850|retained_intron|1/2|n.962C>T|||||| 22 45130957 . G A . . ANN=A|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|9/10|c.675G>A|p.Thr225Thr|1284/2279|675/1236|225/411||,A|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|7/17|c.606G>A|p.Thr202Thr|606/2043|606/1932|202/643||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|7/17|c.606G>A|p.Thr202Thr|606/2043|606/1932|202/643||,A|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding|8/9|c.579G>A|p.Thr193Thr|682/905|579/802|193/266||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|8/9|c.579G>A|p.Thr193Thr|773/1767|579/1140|193/379||,A|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|7/8|c.606G>A|p.Thr202Thr|883/1878|606/1167|202/388||,A|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding|8/9|c.579G>A|p.Thr193Thr|781/881|579/679|193/225||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000455389|protein_coding|4/5|c.483G>A|p.Thr161Thr|485/1431|483/1044|161/347||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000403581|protein_coding|9/10|c.675G>A||||||,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000006251|protein_coding|8/9|c.579G>A||||||,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000336985|protein_coding|7/8|c.606G>A||||||,A|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|7/8|n.*232G>A|||||3296|,A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492289|processed_transcript||n.*735G>A|||||4145|,A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding||c.*789G>A|||||2760|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|4/14|c.322+8443G>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|6/6|n.*182-1695G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|4/14|c.295+8443G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|2/5|n.105+8443G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|2/12|c.88+8443G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript|7/8|n.732G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|7/8|n.*232G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|6/7|n.512G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000495017|retained_intron|3/4|n.1130G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000475850|retained_intron|1/2|n.970G>A|||||| 22 45130997 . G A . . ANN=A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|9/10|c.715G>A|p.Gly239Ser|1324/2279|715/1236|239/411||,A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|7/17|c.646G>A|p.Gly216Ser|646/2043|646/1932|216/643||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|7/17|c.646G>A|p.Gly216Ser|646/2043|646/1932|216/643||,A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding|8/9|c.619G>A|p.Gly207Ser|722/905|619/802|207/266||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|8/9|c.619G>A|p.Gly207Ser|813/1767|619/1140|207/379||,A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|7/8|c.646G>A|p.Gly216Ser|923/1878|646/1167|216/388||,A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding|8/9|c.619G>A|p.Gly207Ser|821/881|619/679|207/225||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000455389|protein_coding|4/5|c.523G>A|p.Gly175Ser|525/1431|523/1044|175/347||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000403581|protein_coding|9/10|c.715G>A||||||,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000006251|protein_coding|8/9|c.619G>A||||||,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000336985|protein_coding|7/8|c.646G>A||||||,A|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|7/8|n.*272G>A|||||3336|,A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492289|processed_transcript||n.*735G>A|||||4185|,A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding||c.*789G>A|||||2800|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|4/14|c.322+8483G>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|6/6|n.*182-1655G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|4/14|c.295+8483G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|2/5|n.105+8483G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|2/12|c.88+8483G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript|7/8|n.772G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|7/8|n.*272G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|6/7|n.552G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000495017|retained_intron|3/4|n.1170G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000475850|retained_intron|1/2|n.1010G>A|||||| 22 45131053 . G A . . ANN=A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492289|processed_transcript||n.*735G>A|||||4241|,A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding||c.*789G>A|||||2856|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|9/9|c.760+11G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|7/16|c.691+11G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|7/16|c.691+11G>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding|8/8|c.664+11G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript|7/7|n.817+11G>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|8/8|c.664+11G>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|7/7|c.691+11G>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding|8/8|c.664+11G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|7/7|n.*317+11G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|4/14|c.322+8539G>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|6/6|n.*182-1599G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|4/14|c.295+8539G>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|6/6|n.597+11G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|2/5|n.105+8539G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|2/12|c.88+8539G>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000455389|protein_coding|4/4|c.568+11G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000495017|retained_intron|3/3|n.1215+11G>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000475850|retained_intron|1/1|n.1055+11G>A|||||| 22 45131086 . G T . . ANN=T|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492289|processed_transcript||n.*735G>T|||||4274|,T|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding||c.*789G>T|||||2889|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|9/9|c.760+44G>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|7/16|c.691+44G>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|7/16|c.691+44G>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding|8/8|c.664+44G>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript|7/7|n.817+44G>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|8/8|c.664+44G>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|7/7|c.691+44G>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding|8/8|c.664+44G>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|7/7|n.*317+44G>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|4/14|c.322+8572G>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|6/6|n.*182-1566G>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|4/14|c.295+8572G>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|6/6|n.597+44G>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|2/5|n.105+8572G>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|2/12|c.88+8572G>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000455389|protein_coding|4/4|c.568+44G>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000495017|retained_intron|3/3|n.1215+44G>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000475850|retained_intron|1/1|n.1055+44G>T|||||| 22 45131087 . G T . . ANN=T|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492289|processed_transcript||n.*735G>T|||||4275|,T|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding||c.*789G>T|||||2890|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|9/9|c.760+45G>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|7/16|c.691+45G>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|7/16|c.691+45G>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding|8/8|c.664+45G>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript|7/7|n.817+45G>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|8/8|c.664+45G>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|7/7|c.691+45G>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding|8/8|c.664+45G>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|7/7|n.*317+45G>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|4/14|c.322+8573G>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|6/6|n.*182-1565G>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|4/14|c.295+8573G>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|6/6|n.597+45G>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|2/5|n.105+8573G>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|2/12|c.88+8573G>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000455389|protein_coding|4/4|c.568+45G>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000495017|retained_intron|3/3|n.1215+45G>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000475850|retained_intron|1/1|n.1055+45G>T|||||| 22 45131092 . C T . . ANN=T|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492289|processed_transcript||n.*735C>T|||||4280|,T|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding||c.*789C>T|||||2895|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|9/9|c.760+50C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|7/16|c.691+50C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|7/16|c.691+50C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding|8/8|c.664+50C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript|7/7|n.817+50C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|8/8|c.664+50C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|7/7|c.691+50C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding|8/8|c.664+50C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|7/7|n.*317+50C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|4/14|c.322+8578C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|6/6|n.*182-1560C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|4/14|c.295+8578C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|6/6|n.597+50C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|2/5|n.105+8578C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|2/12|c.88+8578C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000455389|protein_coding|4/4|c.568+50C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000495017|retained_intron|3/3|n.1215+50C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000475850|retained_intron|1/1|n.1055+50C>T|||||| 22 45132638 . G A . . ANN=A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding||c.*789G>A|||||4441|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|9/9|c.761-14G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|7/16|c.691+1596G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|7/16|c.691+1596G>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding|8/8|c.665-14G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript|7/7|n.818-14G>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|8/8|c.665-14G>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|7/7|c.692-14G>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding|8/8|c.665-14G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|7/7|n.*318-14G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|4/14|c.322+10124G>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|6/6|n.*182-14G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|4/14|c.295+10124G>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|6/6|n.598-14G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|2/5|n.105+10124G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|2/12|c.88+10124G>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000455389|protein_coding|4/4|c.569-14G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000495017|retained_intron|3/3|n.1216-14G>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000475850|retained_intron|1/1|n.1056-14G>A|||||| 22 45132665 . C A . . ANN=A|splice_region_variant&synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding|9/9|c.678C>A|p.Leu226Leu|880/881|678/679|226/225||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|10/10|c.774C>A|p.Leu258Leu|1383/2279|774/1236|258/411||,A|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding|9/9|c.678C>A|p.Leu226Leu|781/905|678/802|226/266||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|9/9|c.678C>A|p.Leu226Leu|872/1767|678/1140|226/379||,A|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|8/8|c.705C>A|p.Leu235Leu|982/1878|705/1167|235/388||,A|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000455389|protein_coding|5/5|c.582C>A|p.Leu194Leu|584/1431|582/1044|194/347||WARNING_TRANSCRIPT_NO_START_CODON,A|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|8/8|n.*331C>A|||||5004|,A|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|7/7|n.*195C>A|||||5004|,A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding||c.*789C>A|||||4468|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|7/16|c.691+1623C>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|7/16|c.691+1623C>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|4/14|c.322+10151C>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|4/14|c.295+10151C>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|2/5|n.105+10151C>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|2/12|c.88+10151C>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript|8/8|n.831C>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|8/8|n.*331C>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|7/7|n.*195C>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|7/7|n.611C>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000495017|retained_intron|4/4|n.1229C>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000475850|retained_intron|2/2|n.1069C>A|||||| 22 45132675 . C T . . ANN=T|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|10/10|c.784C>T|p.Arg262Cys|1393/2279|784/1236|262/411||,T|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding|9/9|c.688C>T|p.Arg230Cys|791/905|688/802|230/266||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|9/9|c.688C>T|p.Arg230Cys|882/1767|688/1140|230/379||,T|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|8/8|c.715C>T|p.Arg239Cys|992/1878|715/1167|239/388||,T|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000455389|protein_coding|5/5|c.592C>T|p.Arg198Cys|594/1431|592/1044|198/347||WARNING_TRANSCRIPT_NO_START_CODON,T|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|8/8|n.*341C>T|||||5014|,T|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|7/7|n.*205C>T|||||5014|,T|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding||c.*789C>T|||||4478|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding||c.*881C>T|||||9|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|7/16|c.691+1633C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|7/16|c.691+1633C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|4/14|c.322+10161C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|4/14|c.295+10161C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|2/5|n.105+10161C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|2/12|c.88+10161C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript|8/8|n.841C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|8/8|n.*341C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|7/7|n.*205C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|7/7|n.621C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000495017|retained_intron|4/4|n.1239C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000475850|retained_intron|2/2|n.1079C>T|||||| 22 45132687 . G A . . ANN=A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|10/10|c.796G>A|p.Val266Met|1405/2279|796/1236|266/411||,A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding|9/9|c.700G>A|p.Val234Met|803/905|700/802|234/266||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|9/9|c.700G>A|p.Val234Met|894/1767|700/1140|234/379||,A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|8/8|c.727G>A|p.Val243Met|1004/1878|727/1167|243/388||,A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000455389|protein_coding|5/5|c.604G>A|p.Val202Met|606/1431|604/1044|202/347||WARNING_TRANSCRIPT_NO_START_CODON,A|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|8/8|n.*353G>A|||||5026|,A|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|7/7|n.*217G>A|||||5026|,A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding||c.*789G>A|||||4490|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding||c.*881G>A|||||21|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|7/16|c.691+1645G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|7/16|c.691+1645G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|4/14|c.322+10173G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|4/14|c.295+10173G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|2/5|n.105+10173G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|2/12|c.88+10173G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript|8/8|n.853G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|8/8|n.*353G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|7/7|n.*217G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|7/7|n.633G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000495017|retained_intron|4/4|n.1251G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000475850|retained_intron|2/2|n.1091G>A|||||| 22 45132704 . T C . . ANN=C|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|10/10|c.813T>C|p.Pro271Pro|1422/2279|813/1236|271/411||,C|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding|9/9|c.717T>C|p.Pro239Pro|820/905|717/802|239/266||WARNING_TRANSCRIPT_INCOMPLETE,C|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|9/9|c.717T>C|p.Pro239Pro|911/1767|717/1140|239/379||,C|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|8/8|c.744T>C|p.Pro248Pro|1021/1878|744/1167|248/388||,C|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000455389|protein_coding|5/5|c.621T>C|p.Pro207Pro|623/1431|621/1044|207/347||WARNING_TRANSCRIPT_NO_START_CODON,C|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|8/8|n.*370T>C|||||5043|,C|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|7/7|n.*234T>C|||||5043|,C|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding||c.*789T>C|||||4507|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding||c.*881T>C|||||38|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|7/16|c.691+1662T>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|7/16|c.691+1662T>C||||||,C|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|4/14|c.322+10190T>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|4/14|c.295+10190T>C||||||,C|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|2/5|n.105+10190T>C||||||,C|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|2/12|c.88+10190T>C||||||,C|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript|8/8|n.870T>C||||||,C|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|8/8|n.*370T>C||||||,C|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|7/7|n.*234T>C||||||,C|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|7/7|n.650T>C||||||,C|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000495017|retained_intron|4/4|n.1268T>C||||||,C|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000475850|retained_intron|2/2|n.1108T>C|||||| 22 45132725 . C T . . ANN=T|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|10/10|c.834C>T|p.Tyr278Tyr|1443/2279|834/1236|278/411||,T|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding|9/9|c.738C>T|p.Tyr246Tyr|841/905|738/802|246/266||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|9/9|c.738C>T|p.Tyr246Tyr|932/1767|738/1140|246/379||,T|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|8/8|c.765C>T|p.Tyr255Tyr|1042/1878|765/1167|255/388||,T|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000455389|protein_coding|5/5|c.642C>T|p.Tyr214Tyr|644/1431|642/1044|214/347||WARNING_TRANSCRIPT_NO_START_CODON,T|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|8/8|n.*391C>T|||||5064|,T|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|7/7|n.*255C>T|||||5064|,T|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding||c.*789C>T|||||4528|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding||c.*881C>T|||||59|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|7/16|c.691+1683C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|7/16|c.691+1683C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|4/14|c.322+10211C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|4/14|c.295+10211C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|2/5|n.105+10211C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|2/12|c.88+10211C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript|8/8|n.891C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|8/8|n.*391C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|7/7|n.*255C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|7/7|n.671C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000495017|retained_intron|4/4|n.1289C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000475850|retained_intron|2/2|n.1129C>T|||||| 22 45132785 . T C . . ANN=C|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|10/10|c.894T>C|p.Gly298Gly|1503/2279|894/1236|298/411||,C|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding|9/9|c.798T>C|p.Gly266Gly|901/905|798/802|266/266||WARNING_TRANSCRIPT_INCOMPLETE,C|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|9/9|c.798T>C|p.Gly266Gly|992/1767|798/1140|266/379||,C|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|8/8|c.825T>C|p.Gly275Gly|1102/1878|825/1167|275/388||,C|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000455389|protein_coding|5/5|c.702T>C|p.Gly234Gly|704/1431|702/1044|234/347||WARNING_TRANSCRIPT_NO_START_CODON,C|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|8/8|n.*451T>C|||||5124|,C|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|7/7|n.*315T>C|||||5124|,C|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript||n.*920T>C|||||31|,C|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding||c.*789T>C|||||4588|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding||c.*881T>C|||||119|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|7/16|c.691+1743T>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|7/16|c.691+1743T>C||||||,C|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|4/14|c.322+10271T>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|4/14|c.295+10271T>C||||||,C|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|2/5|n.105+10271T>C||||||,C|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|2/12|c.88+10271T>C||||||,C|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|8/8|n.*451T>C||||||,C|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|7/7|n.*315T>C||||||,C|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|7/7|n.731T>C||||||,C|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000495017|retained_intron|4/4|n.1349T>C||||||,C|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000475850|retained_intron|2/2|n.1189T>C|||||| 22 45132794 . C T . . ANN=T|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|10/10|c.903C>T|p.Ile301Ile|1512/2279|903/1236|301/411||,T|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|9/9|c.807C>T|p.Ile269Ile|1001/1767|807/1140|269/379||,T|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|8/8|c.834C>T|p.Ile278Ile|1111/1878|834/1167|278/388||,T|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000455389|protein_coding|5/5|c.711C>T|p.Ile237Ile|713/1431|711/1044|237/347||WARNING_TRANSCRIPT_NO_START_CODON,T|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|8/8|n.*460C>T|||||5133|,T|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|7/7|n.*324C>T|||||5133|,T|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding||c.*905C>T|||||5|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript||n.*920C>T|||||40|,T|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding||c.*789C>T|||||4597|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding||c.*881C>T|||||128|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|7/16|c.691+1752C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|7/16|c.691+1752C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|4/14|c.322+10280C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|4/14|c.295+10280C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|2/5|n.105+10280C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|2/12|c.88+10280C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|8/8|n.*460C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|7/7|n.*324C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|7/7|n.740C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000495017|retained_intron|4/4|n.1358C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000475850|retained_intron|2/2|n.1198C>T|||||| 22 45132831 . G A . . ANN=A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|10/10|c.940G>A|p.Glu314Lys|1549/2279|940/1236|314/411||,A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|9/9|c.844G>A|p.Glu282Lys|1038/1767|844/1140|282/379||,A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|8/8|c.871G>A|p.Glu291Lys|1148/1878|871/1167|291/388||,A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000455389|protein_coding|5/5|c.748G>A|p.Glu250Lys|750/1431|748/1044|250/347||WARNING_TRANSCRIPT_NO_START_CODON,A|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|8/8|n.*497G>A|||||5170|,A|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|7/7|n.*361G>A|||||5170|,A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding||c.*905G>A|||||42|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript||n.*920G>A|||||77|,A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding||c.*789G>A|||||4634|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding||c.*881G>A|||||165|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|7/16|c.691+1789G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|7/16|c.691+1789G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|4/14|c.322+10317G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|4/14|c.295+10317G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|2/5|n.105+10317G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|2/12|c.88+10317G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|8/8|n.*497G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|7/7|n.*361G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|7/7|n.777G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000495017|retained_intron|4/4|n.1395G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000475850|retained_intron|2/2|n.1235G>A|||||| 22 45132853 . C T . . ANN=T|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|10/10|c.962C>T|p.Pro321Leu|1571/2279|962/1236|321/411||,T|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|9/9|c.866C>T|p.Pro289Leu|1060/1767|866/1140|289/379||,T|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|8/8|c.893C>T|p.Pro298Leu|1170/1878|893/1167|298/388||,T|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000455389|protein_coding|5/5|c.770C>T|p.Pro257Leu|772/1431|770/1044|257/347||WARNING_TRANSCRIPT_NO_START_CODON,T|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|8/8|n.*519C>T|||||5192|,T|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|7/7|n.*383C>T|||||5192|,T|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding||c.*905C>T|||||64|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript||n.*920C>T|||||99|,T|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding||c.*789C>T|||||4656|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding||c.*881C>T|||||187|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|7/16|c.691+1811C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|7/16|c.691+1811C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|4/14|c.322+10339C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|4/14|c.295+10339C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|2/5|n.105+10339C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|2/12|c.88+10339C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|8/8|n.*519C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|7/7|n.*383C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|7/7|n.799C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000495017|retained_intron|4/4|n.1417C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000475850|retained_intron|2/2|n.1257C>T|||||| 22 45132854 . G A . . ANN=A|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|10/10|c.963G>A|p.Pro321Pro|1572/2279|963/1236|321/411||,A|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|9/9|c.867G>A|p.Pro289Pro|1061/1767|867/1140|289/379||,A|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|8/8|c.894G>A|p.Pro298Pro|1171/1878|894/1167|298/388||,A|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000455389|protein_coding|5/5|c.771G>A|p.Pro257Pro|773/1431|771/1044|257/347||WARNING_TRANSCRIPT_NO_START_CODON,A|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|8/8|n.*520G>A|||||5193|,A|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|7/7|n.*384G>A|||||5193|,A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding||c.*905G>A|||||65|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript||n.*920G>A|||||100|,A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding||c.*789G>A|||||4657|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding||c.*881G>A|||||188|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|7/16|c.691+1812G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|7/16|c.691+1812G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|4/14|c.322+10340G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|4/14|c.295+10340G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|2/5|n.105+10340G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|2/12|c.88+10340G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|8/8|n.*520G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|7/7|n.*384G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|7/7|n.800G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000495017|retained_intron|4/4|n.1418G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000475850|retained_intron|2/2|n.1258G>A|||||| 22 45132857 . C T . . ANN=T|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|10/10|c.966C>T|p.Pro322Pro|1575/2279|966/1236|322/411||,T|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|9/9|c.870C>T|p.Pro290Pro|1064/1767|870/1140|290/379||,T|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|8/8|c.897C>T|p.Pro299Pro|1174/1878|897/1167|299/388||,T|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000455389|protein_coding|5/5|c.774C>T|p.Pro258Pro|776/1431|774/1044|258/347||WARNING_TRANSCRIPT_NO_START_CODON,T|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|8/8|n.*523C>T|||||5196|,T|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|7/7|n.*387C>T|||||5196|,T|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding||c.*905C>T|||||68|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript||n.*920C>T|||||103|,T|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding||c.*789C>T|||||4660|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding||c.*881C>T|||||191|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|7/16|c.691+1815C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|7/16|c.691+1815C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|4/14|c.322+10343C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|4/14|c.295+10343C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|2/5|n.105+10343C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|2/12|c.88+10343C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|8/8|n.*523C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|7/7|n.*387C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|7/7|n.803C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000495017|retained_intron|4/4|n.1421C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000475850|retained_intron|2/2|n.1261C>T|||||| 22 45132896 . G A . . ANN=A|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|10/10|c.1005G>A|p.Ala335Ala|1614/2279|1005/1236|335/411||,A|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|9/9|c.909G>A|p.Ala303Ala|1103/1767|909/1140|303/379||,A|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|8/8|c.936G>A|p.Ala312Ala|1213/1878|936/1167|312/388||,A|synonymous_variant|LOW|PRR5|ENSG00000186654|transcript|ENST00000455389|protein_coding|5/5|c.813G>A|p.Ala271Ala|815/1431|813/1044|271/347||WARNING_TRANSCRIPT_NO_START_CODON,A|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|8/8|n.*562G>A|||||5235|,A|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|7/7|n.*426G>A|||||5235|,A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding||c.*905G>A|||||107|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript||n.*920G>A|||||142|,A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding||c.*789G>A|||||4699|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding||c.*881G>A|||||230|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|7/16|c.691+1854G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|7/16|c.691+1854G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|4/14|c.322+10382G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|4/14|c.295+10382G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|2/5|n.105+10382G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|2/12|c.88+10382G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|8/8|n.*562G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|7/7|n.*426G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|7/7|n.842G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000495017|retained_intron|4/4|n.1460G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000475850|retained_intron|2/2|n.1300G>A|||||| 22 45133173 . CG C . . ANN=|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|10/10|c.*51delG|||||51|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|9/9|c.*51delG|||||51|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|8/8|c.*51delG|||||51|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|8/8|n.*844delG|||||5517|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|7/7|n.*708delG|||||5517|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000455389|protein_coding|5/5|c.*51delG|||||51|WARNING_TRANSCRIPT_NO_START_CODON&INFO_REALIGN_3_PRIME,|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding||c.*905delG|||||385|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript||n.*920delG|||||420|,|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding||c.*789delG|||||4977|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding||c.*881delG|||||508|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript||n.*1041delG|||||79|,|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|7/16|c.691+2136delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|7/16|c.691+2136delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|4/14|c.322+10664delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|4/14|c.295+10664delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|2/5|n.105+10664delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|2/12|c.88+10664delG||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|8/8|n.*844delG||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|7/7|n.*708delG||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000495017|retained_intron|4/4|n.1742delG||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000475850|retained_intron|2/2|n.1582delG||||||INFO_REALIGN_3_PRIME 22 45133174 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|10/10|c.*47G>A|||||47|,A|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|9/9|c.*47G>A|||||47|,A|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|8/8|c.*47G>A|||||47|,A|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|8/8|n.*840G>A|||||5513|,A|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|7/7|n.*704G>A|||||5513|,A|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000455389|protein_coding|5/5|c.*47G>A|||||47|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding||c.*905G>A|||||385|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript||n.*920G>A|||||420|,A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding||c.*789G>A|||||4977|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding||c.*881G>A|||||508|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript||n.*1041G>A|||||79|,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|7/16|c.691+2132G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|7/16|c.691+2132G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|4/14|c.322+10660G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|4/14|c.295+10660G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|2/5|n.105+10660G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|2/12|c.88+10660G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|8/8|n.*840G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|7/7|n.*704G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000495017|retained_intron|4/4|n.1738G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000475850|retained_intron|2/2|n.1578G>A|||||| 22 45182361 . C T . . ANN=T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|8/17|c.716C>T|p.Ala239Val|716/2043|716/1932|239/643||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|8/17|c.716C>T|p.Ala239Val|716/2043|716/1932|239/643||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|5/15|c.347C>T|p.Ala116Val|589/2013|347/1695|116/564||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|5/15|c.320C>T|p.Ala107Val|320/1857|320/1668|107/555||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|3/13|c.113C>T|p.Ala38Val|115/1590|113/1512|38/503||,T|5_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|2/13|c.-47C>T|||||47|,T|5_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000396119|protein_coding|3/6|c.-47C>T|||||47|WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000447333|nonsense_mediated_decay|2/8|n.-47C>T|||||47|,T|5_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|2/11|c.-47C>T|||||47|,T|5_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|2/12|c.-47C>T|||||47|,T|5_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000412433|protein_coding|4/7|c.-47C>T|||||47|WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|1/10|n.-47C>T|||||47|,T|upstream_gene_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000495219|retained_intron||n.-1C>T|||||71|,T|non_coding_exon_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|3/6|n.130C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|2/10|n.79C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000447333|nonsense_mediated_decay|2/8|n.-47C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469872|processed_transcript|3/3|n.521C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|1/10|n.-47C>T|||||| 22 45182362 . G A . . ANN=A|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|8/17|c.717G>A|p.Ala239Ala|717/2043|717/1932|239/643||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|8/17|c.717G>A|p.Ala239Ala|717/2043|717/1932|239/643||,A|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|5/15|c.348G>A|p.Ala116Ala|590/2013|348/1695|116/564||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|5/15|c.321G>A|p.Ala107Ala|321/1857|321/1668|107/555||,A|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|3/13|c.114G>A|p.Ala38Ala|116/1590|114/1512|38/503||,A|5_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|2/13|c.-46G>A|||||46|,A|5_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000396119|protein_coding|3/6|c.-46G>A|||||46|WARNING_TRANSCRIPT_INCOMPLETE,A|5_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000447333|nonsense_mediated_decay|2/8|n.-46G>A|||||46|,A|5_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|2/11|c.-46G>A|||||46|,A|5_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|2/12|c.-46G>A|||||46|,A|5_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000412433|protein_coding|4/7|c.-46G>A|||||46|WARNING_TRANSCRIPT_INCOMPLETE,A|5_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|1/10|n.-46G>A|||||46|,A|upstream_gene_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000495219|retained_intron||n.-1G>A|||||70|,A|non_coding_exon_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|3/6|n.131G>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|2/10|n.80G>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000447333|nonsense_mediated_decay|2/8|n.-46G>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469872|processed_transcript|3/3|n.522G>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|1/10|n.-46G>A|||||| 22 45182428 . G A . . ANN=A|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|8/17|c.783G>A|p.Ala261Ala|783/2043|783/1932|261/643||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|8/17|c.783G>A|p.Ala261Ala|783/2043|783/1932|261/643||,A|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|5/15|c.414G>A|p.Ala138Ala|656/2013|414/1695|138/564||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|5/15|c.387G>A|p.Ala129Ala|387/1857|387/1668|129/555||,A|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|3/13|c.180G>A|p.Ala60Ala|182/1590|180/1512|60/503||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|2/13|c.21G>A|p.Ala7Ala|162/1725|21/1395|7/464||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000396119|protein_coding|3/6|c.21G>A|p.Ala7Ala|202/573|21/392|7/129||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|2/11|c.21G>A|p.Ala7Ala|117/1484|21/918|7/305||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|2/12|c.21G>A|p.Ala7Ala|114/1584|21/1302|7/433||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000412433|protein_coding|4/7|c.21G>A|p.Ala7Ala|256/581|21/346|7/114||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000495219|retained_intron||n.-1G>A|||||4|,A|downstream_gene_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469872|processed_transcript||n.*548G>A|||||40|,A|non_coding_exon_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|3/6|n.197G>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|2/10|n.146G>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000447333|nonsense_mediated_decay|2/8|n.21G>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|1/10|n.21G>A|||||| 22 45182436 . C T . . ANN=T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|8/17|c.791C>T|p.Thr264Met|791/2043|791/1932|264/643||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|8/17|c.791C>T|p.Thr264Met|791/2043|791/1932|264/643||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|5/15|c.422C>T|p.Thr141Met|664/2013|422/1695|141/564||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|5/15|c.395C>T|p.Thr132Met|395/1857|395/1668|132/555||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|3/13|c.188C>T|p.Thr63Met|190/1590|188/1512|63/503||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|2/13|c.29C>T|p.Thr10Met|170/1725|29/1395|10/464||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000396119|protein_coding|3/6|c.29C>T|p.Thr10Met|210/573|29/392|10/129||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|2/11|c.29C>T|p.Thr10Met|125/1484|29/918|10/305||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|2/12|c.29C>T|p.Thr10Met|122/1584|29/1302|10/433||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000412433|protein_coding|4/7|c.29C>T|p.Thr10Met|264/581|29/346|10/114||WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469872|processed_transcript||n.*548C>T|||||48|,T|non_coding_exon_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|3/6|n.205C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|2/10|n.154C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000447333|nonsense_mediated_decay|2/8|n.29C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|1/10|n.29C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000495219|retained_intron|1/3|n.5C>T|||||| 22 45182453 . G A . . ANN=A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|8/17|c.808G>A|p.Asp270Asn|808/2043|808/1932|270/643||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|8/17|c.808G>A|p.Asp270Asn|808/2043|808/1932|270/643||,A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|5/15|c.439G>A|p.Asp147Asn|681/2013|439/1695|147/564||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|5/15|c.412G>A|p.Asp138Asn|412/1857|412/1668|138/555||,A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|3/13|c.205G>A|p.Asp69Asn|207/1590|205/1512|69/503||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|2/13|c.46G>A|p.Asp16Asn|187/1725|46/1395|16/464||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000396119|protein_coding|3/6|c.46G>A|p.Asp16Asn|227/573|46/392|16/129||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|2/11|c.46G>A|p.Asp16Asn|142/1484|46/918|16/305||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|2/12|c.46G>A|p.Asp16Asn|139/1584|46/1302|16/433||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000412433|protein_coding|4/7|c.46G>A|p.Asp16Asn|281/581|46/346|16/114||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|4/13|c.46G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|2/13|c.46G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|6/13|c.46G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|7/13|c.46G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|8/13|c.46G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|5/13|c.46G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|3/13|c.46G>A||||||,A|downstream_gene_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469872|processed_transcript||n.*548G>A|||||65|,A|non_coding_exon_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|3/6|n.222G>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|2/10|n.171G>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000447333|nonsense_mediated_decay|2/8|n.46G>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|1/10|n.46G>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000495219|retained_intron|1/3|n.22G>A|||||| 22 45182466 . A G . . ANN=G|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|8/17|c.821A>G|p.His274Arg|821/2043|821/1932|274/643||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|8/17|c.821A>G|p.His274Arg|821/2043|821/1932|274/643||,G|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|5/15|c.452A>G|p.His151Arg|694/2013|452/1695|151/564||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|5/15|c.425A>G|p.His142Arg|425/1857|425/1668|142/555||,G|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|3/13|c.218A>G|p.His73Arg|220/1590|218/1512|73/503||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|2/13|c.59A>G|p.His20Arg|200/1725|59/1395|20/464||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000396119|protein_coding|3/6|c.59A>G|p.His20Arg|240/573|59/392|20/129||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|2/11|c.59A>G|p.His20Arg|155/1484|59/918|20/305||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|2/12|c.59A>G|p.His20Arg|152/1584|59/1302|20/433||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000412433|protein_coding|4/7|c.59A>G|p.His20Arg|294/581|59/346|20/114||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|4/13|c.59A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|2/13|c.59A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|6/13|c.59A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|7/13|c.59A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|8/13|c.59A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|5/13|c.59A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|3/13|c.59A>G||||||,G|downstream_gene_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469872|processed_transcript||n.*548A>G|||||78|,G|non_coding_exon_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|3/6|n.235A>G||||||,G|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|2/10|n.184A>G||||||,G|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000447333|nonsense_mediated_decay|2/8|n.59A>G||||||,G|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|1/10|n.59A>G||||||,G|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000495219|retained_intron|1/3|n.35A>G|||||| 22 45198000 . C T . . ANN=T|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|9/17|c.885C>T|p.Cys295Cys|885/2043|885/1932|295/643||,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|9/17|c.885C>T|p.Cys295Cys|885/2043|885/1932|295/643||,T|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|6/15|c.516C>T|p.Cys172Cys|758/2013|516/1695|172/564||,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|6/15|c.489C>T|p.Cys163Cys|489/1857|489/1668|163/555||,T|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|4/13|c.282C>T|p.Cys94Cys|284/1590|282/1512|94/503||,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|3/13|c.123C>T|p.Cys41Cys|264/1725|123/1395|41/464||,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000396119|protein_coding|4/6|c.123C>T|p.Cys41Cys|304/573|123/392|41/129||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|3/11|c.123C>T|p.Cys41Cys|219/1484|123/918|41/305||,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|3/12|c.123C>T|p.Cys41Cys|216/1584|123/1302|41/433||,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000412433|protein_coding|5/7|c.123C>T|p.Cys41Cys|358/581|123/346|41/114||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|4/13|c.123C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|2/13|c.123C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|6/13|c.123C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|7/13|c.123C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|8/13|c.123C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|5/13|c.123C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|3/13|c.123C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|1/9|n.80-6187C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|4/6|n.299C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|3/10|n.248C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000447333|nonsense_mediated_decay|3/8|n.123C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000495219|retained_intron|2/3|n.99C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000498310|retained_intron|1/5|n.301C>T|||||| 22 45198002 . G A . . ANN=A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|9/17|c.887G>A|p.Arg296Gln|887/2043|887/1932|296/643||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|9/17|c.887G>A|p.Arg296Gln|887/2043|887/1932|296/643||,A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|6/15|c.518G>A|p.Arg173Gln|760/2013|518/1695|173/564||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|6/15|c.491G>A|p.Arg164Gln|491/1857|491/1668|164/555||,A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|4/13|c.284G>A|p.Arg95Gln|286/1590|284/1512|95/503||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|3/13|c.125G>A|p.Arg42Gln|266/1725|125/1395|42/464||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000396119|protein_coding|4/6|c.125G>A|p.Arg42Gln|306/573|125/392|42/129||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|3/11|c.125G>A|p.Arg42Gln|221/1484|125/918|42/305||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|3/12|c.125G>A|p.Arg42Gln|218/1584|125/1302|42/433||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000412433|protein_coding|5/7|c.125G>A|p.Arg42Gln|360/581|125/346|42/114||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|4/13|c.125G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|2/13|c.125G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|6/13|c.125G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|7/13|c.125G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|8/13|c.125G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|5/13|c.125G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|3/13|c.125G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|1/9|n.80-6185G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|4/6|n.301G>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|3/10|n.250G>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000447333|nonsense_mediated_decay|3/8|n.125G>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000495219|retained_intron|2/3|n.101G>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000498310|retained_intron|1/5|n.303G>A|||||| 22 45198009 . A G . . ANN=G|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|9/17|c.894A>G|p.Pro298Pro|894/2043|894/1932|298/643||,G|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|9/17|c.894A>G|p.Pro298Pro|894/2043|894/1932|298/643||,G|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|6/15|c.525A>G|p.Pro175Pro|767/2013|525/1695|175/564||,G|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|6/15|c.498A>G|p.Pro166Pro|498/1857|498/1668|166/555||,G|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|4/13|c.291A>G|p.Pro97Pro|293/1590|291/1512|97/503||,G|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|3/13|c.132A>G|p.Pro44Pro|273/1725|132/1395|44/464||,G|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000396119|protein_coding|4/6|c.132A>G|p.Pro44Pro|313/573|132/392|44/129||WARNING_TRANSCRIPT_INCOMPLETE,G|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|3/11|c.132A>G|p.Pro44Pro|228/1484|132/918|44/305||,G|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|3/12|c.132A>G|p.Pro44Pro|225/1584|132/1302|44/433||,G|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000412433|protein_coding|5/7|c.132A>G|p.Pro44Pro|367/581|132/346|44/114||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|4/13|c.132A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|2/13|c.132A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|6/13|c.132A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|7/13|c.132A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|8/13|c.132A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|5/13|c.132A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|3/13|c.132A>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|1/9|n.80-6178A>G||||||,G|non_coding_exon_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|4/6|n.308A>G||||||,G|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|3/10|n.257A>G||||||,G|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000447333|nonsense_mediated_decay|3/8|n.132A>G||||||,G|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000495219|retained_intron|2/3|n.108A>G||||||,G|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000498310|retained_intron|1/5|n.310A>G|||||| 22 45198034 . C T . . ANN=T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|9/17|c.919C>T|p.Arg307Trp|919/2043|919/1932|307/643||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|9/17|c.919C>T|p.Arg307Trp|919/2043|919/1932|307/643||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|6/15|c.550C>T|p.Arg184Trp|792/2013|550/1695|184/564||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|6/15|c.523C>T|p.Arg175Trp|523/1857|523/1668|175/555||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|4/13|c.316C>T|p.Arg106Trp|318/1590|316/1512|106/503||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|3/13|c.157C>T|p.Arg53Trp|298/1725|157/1395|53/464||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000396119|protein_coding|4/6|c.157C>T|p.Arg53Trp|338/573|157/392|53/129||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|3/11|c.157C>T|p.Arg53Trp|253/1484|157/918|53/305||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|3/12|c.157C>T|p.Arg53Trp|250/1584|157/1302|53/433||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000412433|protein_coding|5/7|c.157C>T|p.Arg53Trp|392/581|157/346|53/114||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|4/13|c.157C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|2/13|c.157C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|6/13|c.157C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|7/13|c.157C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|8/13|c.157C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|5/13|c.157C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|3/13|c.157C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|1/9|n.80-6153C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|4/6|n.333C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|3/10|n.282C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000447333|nonsense_mediated_decay|3/8|n.157C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000495219|retained_intron|2/3|n.133C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000498310|retained_intron|1/5|n.335C>T|||||| 22 45204163 . C A . . ANN=A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|4/13|c.168-24C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|2/13|c.168-24C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|6/13|c.168-24C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|7/13|c.168-24C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|8/13|c.168-24C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|5/13|c.168-24C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|3/13|c.168-24C>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|9/16|c.929+6119C>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|9/16|c.929+6119C>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|6/14|c.561-24C>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|6/14|c.534-24C>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|4/5|n.344-24C>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|4/12|c.327-24C>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|3/12|c.168-24C>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|3/9|n.293-24C>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000396119|protein_coding|4/5|c.168-24C>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000447333|nonsense_mediated_decay|3/7|n.168-24C>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|3/10|c.168-24C>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|3/11|c.168-24C>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000412433|protein_coding|5/6|c.168-24C>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|1/9|n.80-24C>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000495219|retained_intron|2/2|n.144-24C>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000498310|retained_intron|1/4|n.346-24C>A|||||| 22 45204235 . C A . . ANN=A|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|7/15|c.609C>A|p.Ile203Ile|851/2013|609/1695|203/564||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|7/15|c.582C>A|p.Ile194Ile|582/1857|582/1668|194/555||,A|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|5/13|c.375C>A|p.Ile125Ile|377/1590|375/1512|125/503||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|4/13|c.216C>A|p.Ile72Ile|357/1725|216/1395|72/464||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000396119|protein_coding|5/6|c.216C>A|p.Ile72Ile|397/573|216/392|72/129||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|4/11|c.216C>A|p.Ile72Ile|312/1484|216/918|72/305||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|4/12|c.216C>A|p.Ile72Ile|309/1584|216/1302|72/433||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000412433|protein_coding|6/7|c.216C>A|p.Ile72Ile|451/581|216/346|72/114||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|4/13|c.216C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|2/13|c.216C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|6/13|c.216C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|7/13|c.216C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|8/13|c.216C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|5/13|c.216C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|3/13|c.216C>A||||||,A|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|2/10|n.*41C>A|||||41|,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|9/16|c.929+6191C>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|9/16|c.929+6191C>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|5/6|n.392C>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|4/10|n.341C>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000447333|nonsense_mediated_decay|4/8|n.216C>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|2/10|n.*41C>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000495219|retained_intron|3/3|n.192C>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000498310|retained_intron|2/5|n.394C>A|||||| 22 45204354 . G T . . ANN=T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|4/13|c.299+36G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|2/13|c.299+36G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|6/13|c.299+36G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|7/13|c.299+36G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|8/13|c.299+36G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|5/13|c.299+36G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|3/13|c.299+36G>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|9/16|c.930-6198G>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|9/16|c.930-6198G>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|7/14|c.692+36G>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|7/14|c.665+36G>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|5/5|n.475+36G>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|5/12|c.458+36G>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|4/12|c.299+36G>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|4/9|n.424+36G>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000396119|protein_coding|5/5|c.299+36G>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000447333|nonsense_mediated_decay|4/7|n.299+36G>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|4/10|c.299+36G>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|4/11|c.299+36G>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000412433|protein_coding|6/6|c.299+36G>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|2/9|n.*124+36G>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000498310|retained_intron|2/4|n.477+36G>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000495219|retained_intron|3/3|n.311G>T|||||| 22 45210505 . T A . . ANN=A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|4/13|c.393-47T>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|2/13|c.393-47T>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|6/13|c.393-47T>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|7/13|c.393-47T>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|8/13|c.393-47T>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|5/13|c.393-47T>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|3/13|c.393-47T>A||||||,A|downstream_gene_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron||n.*1271T>A|||||4824|,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|9/16|c.930-47T>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|9/16|c.930-47T>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|7/14|c.693-47T>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|7/14|c.666-47T>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|5/12|c.459-47T>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|5/12|c.393-47T>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|4/9|n.425-47T>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000447333|nonsense_mediated_decay|5/7|n.361-47T>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|4/10|c.300-47T>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|4/11|c.300-47T>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000412433|protein_coding|6/6|c.300-47T>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|2/9|n.*125-47T>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000498310|retained_intron|2/4|n.478-47T>A|||||| 22 45210514 . C T . . ANN=T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|4/13|c.393-38C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|2/13|c.393-38C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|6/13|c.393-38C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|7/13|c.393-38C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|8/13|c.393-38C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|5/13|c.393-38C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|3/13|c.393-38C>T||||||,T|downstream_gene_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron||n.*1271C>T|||||4833|,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|9/16|c.930-38C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|9/16|c.930-38C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|7/14|c.693-38C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|7/14|c.666-38C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|5/12|c.459-38C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|5/12|c.393-38C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|4/9|n.425-38C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000447333|nonsense_mediated_decay|5/7|n.361-38C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|4/10|c.300-38C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|4/11|c.300-38C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000412433|protein_coding|6/6|c.300-38C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|2/9|n.*125-38C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000498310|retained_intron|2/4|n.478-38C>T|||||| 22 45210633 . C T . . ANN=T|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|10/17|c.1011C>T|p.Leu337Leu|1011/2043|1011/1932|337/643||,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|10/17|c.1011C>T|p.Leu337Leu|1011/2043|1011/1932|337/643||,T|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|8/15|c.774C>T|p.Leu258Leu|1016/2013|774/1695|258/564||,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|8/15|c.747C>T|p.Leu249Leu|747/1857|747/1668|249/555||,T|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|6/13|c.540C>T|p.Leu180Leu|542/1590|540/1512|180/503||,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|6/13|c.474C>T|p.Leu158Leu|615/1725|474/1395|158/464||,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|5/11|c.381C>T|p.Leu127Leu|477/1484|381/918|127/305||,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|5/12|c.381C>T|p.Leu127Leu|474/1584|381/1302|127/433||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|4/13|c.474C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|2/13|c.474C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|6/13|c.474C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|7/13|c.474C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|8/13|c.474C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|5/13|c.474C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|3/13|c.474C>T||||||,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|3/10|n.*206C>T|||||6439|,T|downstream_gene_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron||n.*1271C>T|||||4952|,T|downstream_gene_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000412433|protein_coding||c.*581C>T|||||35|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|5/10|n.506C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000447333|nonsense_mediated_decay|6/8|n.442C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|3/10|n.*206C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000498310|retained_intron|3/5|n.559C>T|||||| 22 45210666 . G A . . ANN=A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|4/13|c.479+28G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|2/13|c.479+28G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|6/13|c.479+28G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|7/13|c.479+28G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|8/13|c.479+28G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|5/13|c.479+28G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|3/13|c.479+28G>A||||||,A|downstream_gene_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron||n.*1271G>A|||||4985|,A|downstream_gene_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000412433|protein_coding||c.*581G>A|||||68|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|10/16|c.1016+28G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|10/16|c.1016+28G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|8/14|c.779+28G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|8/14|c.752+28G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|6/12|c.545+28G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|6/12|c.479+28G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|5/9|n.511+28G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000447333|nonsense_mediated_decay|6/7|n.447+28G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|5/10|c.386+28G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|5/11|c.386+28G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|3/9|n.*211+28G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000498310|retained_intron|3/4|n.564+28G>A|||||| 22 45210675 . G A . . ANN=A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|4/13|c.479+37G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|2/13|c.479+37G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|6/13|c.479+37G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|7/13|c.479+37G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|8/13|c.479+37G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|5/13|c.479+37G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|3/13|c.479+37G>A||||||,A|downstream_gene_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron||n.*1271G>A|||||4994|,A|downstream_gene_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000412433|protein_coding||c.*581G>A|||||77|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|10/16|c.1016+37G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|10/16|c.1016+37G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|8/14|c.779+37G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|8/14|c.752+37G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|6/12|c.545+37G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|6/12|c.479+37G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|5/9|n.511+37G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000447333|nonsense_mediated_decay|6/7|n.447+37G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|5/10|c.386+37G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|5/11|c.386+37G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|3/9|n.*211+37G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000498310|retained_intron|3/4|n.564+37G>A|||||| 22 45210685 . C T . . ANN=T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|4/13|c.479+47C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|2/13|c.479+47C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|6/13|c.479+47C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|7/13|c.479+47C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|8/13|c.479+47C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|5/13|c.479+47C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|3/13|c.479+47C>T||||||,T|downstream_gene_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000412433|protein_coding||c.*581C>T|||||87|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|10/16|c.1016+47C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|10/16|c.1016+47C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|8/14|c.779+47C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|8/14|c.752+47C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|6/12|c.545+47C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|6/12|c.479+47C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|5/9|n.511+47C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000447333|nonsense_mediated_decay|6/7|n.447+47C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|5/10|c.386+47C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|5/11|c.386+47C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|3/9|n.*211+47C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000498310|retained_intron|3/4|n.564+47C>T|||||| 22 45218206 . G A . . ANN=A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|4/13|c.480-45G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|2/13|c.480-45G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|6/13|c.480-45G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|7/13|c.480-45G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|8/13|c.480-45G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|5/13|c.480-45G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|3/13|c.480-45G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|10/16|c.1017-45G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|10/16|c.1017-45G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|8/14|c.780-45G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|8/14|c.753-45G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|6/12|c.546-45G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|6/12|c.480-45G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|5/9|n.512-45G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000447333|nonsense_mediated_decay|6/7|n.448-45G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|5/10|c.387-45G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|5/11|c.387-45G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|3/9|n.*212-45G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000498310|retained_intron|3/4|n.565-45G>A|||||| 22 45218211 . C T . . ANN=T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|4/13|c.480-40C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|2/13|c.480-40C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|6/13|c.480-40C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|7/13|c.480-40C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|8/13|c.480-40C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|5/13|c.480-40C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|3/13|c.480-40C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|10/16|c.1017-40C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|10/16|c.1017-40C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|8/14|c.780-40C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|8/14|c.753-40C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|6/12|c.546-40C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|6/12|c.480-40C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|5/9|n.512-40C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000447333|nonsense_mediated_decay|6/7|n.448-40C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|5/10|c.387-40C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|5/11|c.387-40C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|3/9|n.*212-40C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000498310|retained_intron|3/4|n.565-40C>T|||||| 22 45218223 . C T . . ANN=T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|4/13|c.480-28C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|2/13|c.480-28C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|6/13|c.480-28C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|7/13|c.480-28C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|8/13|c.480-28C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|5/13|c.480-28C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|3/13|c.480-28C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|10/16|c.1017-28C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|10/16|c.1017-28C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|8/14|c.780-28C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|8/14|c.753-28C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|6/12|c.546-28C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|6/12|c.480-28C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|5/9|n.512-28C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000447333|nonsense_mediated_decay|6/7|n.448-28C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|5/10|c.387-28C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|5/11|c.387-28C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|3/9|n.*212-28C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000498310|retained_intron|3/4|n.565-28C>T|||||| 22 45218286 . A G . . ANN=G|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|11/17|c.1052A>G|p.Tyr351Cys|1052/2043|1052/1932|351/643||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|11/17|c.1052A>G|p.Tyr351Cys|1052/2043|1052/1932|351/643||,G|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|9/15|c.815A>G|p.Tyr272Cys|1057/2013|815/1695|272/564||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|9/15|c.788A>G|p.Tyr263Cys|788/1857|788/1668|263/555||,G|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|7/13|c.581A>G|p.Tyr194Cys|583/1590|581/1512|194/503||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|7/13|c.515A>G|p.Tyr172Cys|656/1725|515/1395|172/464||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|6/11|c.422A>G|p.Tyr141Cys|518/1484|422/918|141/305||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|6/12|c.422A>G|p.Tyr141Cys|515/1584|422/1302|141/433||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|4/13|c.515A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|2/13|c.515A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|6/13|c.515A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|7/13|c.515A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|8/13|c.515A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|5/13|c.515A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|3/13|c.515A>G||||||,G|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|4/10|n.*247A>G|||||14092|,G|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|6/10|n.547A>G||||||,G|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000447333|nonsense_mediated_decay|7/8|n.483A>G||||||,G|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|4/10|n.*247A>G||||||,G|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000498310|retained_intron|4/5|n.600A>G|||||| 22 45218318 . G T . . ANN=T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|11/17|c.1084G>T|p.Asp362Tyr|1084/2043|1084/1932|362/643||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|11/17|c.1084G>T|p.Asp362Tyr|1084/2043|1084/1932|362/643||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|9/15|c.847G>T|p.Asp283Tyr|1089/2013|847/1695|283/564||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|9/15|c.820G>T|p.Asp274Tyr|820/1857|820/1668|274/555||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|7/13|c.613G>T|p.Asp205Tyr|615/1590|613/1512|205/503||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|7/13|c.547G>T|p.Asp183Tyr|688/1725|547/1395|183/464||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|6/11|c.454G>T|p.Asp152Tyr|550/1484|454/918|152/305||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|6/12|c.454G>T|p.Asp152Tyr|547/1584|454/1302|152/433||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|4/13|c.547G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|2/13|c.547G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|6/13|c.547G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|7/13|c.547G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|8/13|c.547G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|5/13|c.547G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|3/13|c.547G>T||||||,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000447333|nonsense_mediated_decay|7/8|n.*23G>T|||||23|,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|4/10|n.*279G>T|||||14124|,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|6/10|n.579G>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000447333|nonsense_mediated_decay|7/8|n.*23G>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|4/10|n.*279G>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000498310|retained_intron|4/5|n.632G>T|||||| 22 45218339 . G A . . ANN=A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|11/17|c.1105G>A|p.Glu369Lys|1105/2043|1105/1932|369/643||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|11/17|c.1105G>A|p.Glu369Lys|1105/2043|1105/1932|369/643||,A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|9/15|c.868G>A|p.Glu290Lys|1110/2013|868/1695|290/564||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|9/15|c.841G>A|p.Glu281Lys|841/1857|841/1668|281/555||,A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|7/13|c.634G>A|p.Glu212Lys|636/1590|634/1512|212/503||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|7/13|c.568G>A|p.Glu190Lys|709/1725|568/1395|190/464||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|6/11|c.475G>A|p.Glu159Lys|571/1484|475/918|159/305||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|6/12|c.475G>A|p.Glu159Lys|568/1584|475/1302|159/433||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|4/13|c.568G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|2/13|c.568G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|6/13|c.568G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|7/13|c.568G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|8/13|c.568G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|5/13|c.568G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|3/13|c.568G>A||||||,A|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000447333|nonsense_mediated_decay|7/8|n.*44G>A|||||44|,A|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|4/10|n.*300G>A|||||14145|,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|6/10|n.600G>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000447333|nonsense_mediated_decay|7/8|n.*44G>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|4/10|n.*300G>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000498310|retained_intron|4/5|n.653G>A|||||| 22 45218349 . GGTAA G . . ANN=|splice_region_variant&intron_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|11/16|c.1115+3_1115+6delAAGT||||||INFO_REALIGN_3_PRIME,|splice_region_variant&intron_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|11/16|c.1115+3_1115+6delAAGT||||||INFO_REALIGN_3_PRIME,|splice_region_variant&intron_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|9/14|c.878+3_878+6delAAGT||||||INFO_REALIGN_3_PRIME,|splice_region_variant&intron_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|9/14|c.851+3_851+6delAAGT||||||INFO_REALIGN_3_PRIME,|splice_region_variant&intron_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|7/12|c.644+3_644+6delAAGT||||||INFO_REALIGN_3_PRIME,|splice_region_variant&intron_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|7/12|c.578+3_578+6delAAGT||||||INFO_REALIGN_3_PRIME,|splice_region_variant&intron_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|6/9|n.610+3_610+6delAAGT||||||INFO_REALIGN_3_PRIME,|splice_region_variant&intron_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000447333|nonsense_mediated_decay|7/7|n.*54+3_*54+6delAAGT||||||INFO_REALIGN_3_PRIME,|splice_region_variant&intron_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|6/10|c.485+3_485+6delAAGT||||||INFO_REALIGN_3_PRIME,|splice_region_variant&intron_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|6/11|c.485+3_485+6delAAGT||||||INFO_REALIGN_3_PRIME,|splice_region_variant&intron_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|4/9|n.*310+3_*310+6delAAGT||||||INFO_REALIGN_3_PRIME,|splice_region_variant&intron_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000498310|retained_intron|4/4|n.663+3_663+6delAAGT||||||INFO_REALIGN_3_PRIME,|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|4/13|c.578+1_578+4delGTAA||||||,|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|2/13|c.578+1_578+4delGTAA||||||,|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|6/13|c.578+1_578+4delGTAA||||||,|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|7/13|c.578+1_578+4delGTAA||||||,|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|8/13|c.578+1_578+4delGTAA||||||,|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|5/13|c.578+1_578+4delGTAA||||||,|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|3/13|c.578+1_578+4delGTAA|||||| 22 45218385 . A G . . ANN=G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|4/13|c.578+36A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|2/13|c.578+36A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|6/13|c.578+36A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|7/13|c.578+36A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|8/13|c.578+36A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|5/13|c.578+36A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|3/13|c.578+36A>G||||||,G|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|11/16|c.1115+36A>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|11/16|c.1115+36A>G||||||,G|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|9/14|c.878+36A>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|9/14|c.851+36A>G||||||,G|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|7/12|c.644+36A>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|7/12|c.578+36A>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|6/9|n.610+36A>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000447333|nonsense_mediated_decay|7/7|n.*54+36A>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|6/10|c.485+36A>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|6/11|c.485+36A>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|4/9|n.*310+36A>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000498310|retained_intron|4/4|n.663+36A>G|||||| 22 45221334 . T A . . ANN=A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|4/13|c.579-29T>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|2/13|c.579-29T>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|6/13|c.579-29T>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|7/13|c.579-29T>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|8/13|c.579-29T>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|5/13|c.579-29T>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|3/13|c.579-29T>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|11/16|c.1116-29T>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|11/16|c.1116-29T>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|9/14|c.879-29T>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|9/14|c.852-29T>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|7/12|c.645-29T>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|7/12|c.579-29T>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|6/9|n.611-29T>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000447333|nonsense_mediated_decay|7/7|n.*55-29T>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|6/10|c.486-29T>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|6/11|c.486-29T>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|4/9|n.*311-29T>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000498310|retained_intron|4/4|n.664-29T>A|||||| 22 45221398 . G A . . ANN=A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|12/17|c.1151G>A|p.Arg384Gln|1151/2043|1151/1932|384/643||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|12/17|c.1151G>A|p.Arg384Gln|1151/2043|1151/1932|384/643||,A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|10/15|c.914G>A|p.Arg305Gln|1156/2013|914/1695|305/564||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|10/15|c.887G>A|p.Arg296Gln|887/1857|887/1668|296/555||,A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|8/13|c.680G>A|p.Arg227Gln|682/1590|680/1512|227/503||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|8/13|c.614G>A|p.Arg205Gln|755/1725|614/1395|205/464||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|7/11|c.521G>A|p.Arg174Gln|617/1484|521/918|174/305||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|7/12|c.521G>A|p.Arg174Gln|614/1584|521/1302|174/433||,A|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000447333|nonsense_mediated_decay|8/8|n.*90G>A|||||3103|,A|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|5/10|n.*346G>A|||||17204|,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|7/10|n.646G>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000447333|nonsense_mediated_decay|8/8|n.*90G>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|5/10|n.*346G>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000498310|retained_intron|5/5|n.699G>A|||||| 22 45221404 . C T . . ANN=T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|12/17|c.1157C>T|p.Pro386Leu|1157/2043|1157/1932|386/643||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|12/17|c.1157C>T|p.Pro386Leu|1157/2043|1157/1932|386/643||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|10/15|c.920C>T|p.Pro307Leu|1162/2013|920/1695|307/564||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|10/15|c.893C>T|p.Pro298Leu|893/1857|893/1668|298/555||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|8/13|c.686C>T|p.Pro229Leu|688/1590|686/1512|229/503||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|8/13|c.620C>T|p.Pro207Leu|761/1725|620/1395|207/464||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|7/11|c.527C>T|p.Pro176Leu|623/1484|527/918|176/305||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|7/12|c.527C>T|p.Pro176Leu|620/1584|527/1302|176/433||,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000447333|nonsense_mediated_decay|8/8|n.*96C>T|||||3109|,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|5/10|n.*352C>T|||||17210|,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|7/10|n.652C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000447333|nonsense_mediated_decay|8/8|n.*96C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|5/10|n.*352C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000498310|retained_intron|5/5|n.705C>T|||||| 22 45221423 . A T . . ANN=T|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|12/17|c.1176A>T|p.Pro392Pro|1176/2043|1176/1932|392/643||,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|12/17|c.1176A>T|p.Pro392Pro|1176/2043|1176/1932|392/643||,T|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|10/15|c.939A>T|p.Pro313Pro|1181/2013|939/1695|313/564||,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|10/15|c.912A>T|p.Pro304Pro|912/1857|912/1668|304/555||,T|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|8/13|c.705A>T|p.Pro235Pro|707/1590|705/1512|235/503||,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|8/13|c.639A>T|p.Pro213Pro|780/1725|639/1395|213/464||,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|7/11|c.546A>T|p.Pro182Pro|642/1484|546/918|182/305||,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|7/12|c.546A>T|p.Pro182Pro|639/1584|546/1302|182/433||,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000447333|nonsense_mediated_decay|8/8|n.*115A>T|||||3128|,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|5/10|n.*371A>T|||||17229|,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|7/10|n.671A>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000447333|nonsense_mediated_decay|8/8|n.*115A>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|5/10|n.*371A>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000498310|retained_intron|5/5|n.724A>T|||||| 22 45221485 . G A . . ANN=A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.689+12G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.689+12G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.689+12G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.689+12G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.689+12G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.689+12G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.596+12G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.596+12G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.596+12G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.596+12G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.596+12G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.596+12G>A||||||,A|downstream_gene_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000447333|nonsense_mediated_decay||n.*605G>A|||||14|,A|downstream_gene_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000498310|retained_intron||n.*732G>A|||||54|,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|12/16|c.1226+12G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|12/16|c.1226+12G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|10/14|c.989+12G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|10/14|c.962+12G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|8/12|c.755+12G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|8/12|c.689+12G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|7/9|n.721+12G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|7/10|c.596+12G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|7/11|c.596+12G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|5/9|n.*421+12G>A|||||| 22 45241102 . C G . . ANN=G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.690-47C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.690-47C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.690-47C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.690-47C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.690-47C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.690-47C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.597-47C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.597-47C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.597-47C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.597-47C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.597-47C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.597-47C>G||||||,G|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|12/16|c.1227-47C>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|12/16|c.1227-47C>G||||||,G|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|10/14|c.990-47C>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|10/14|c.963-47C>G||||||,G|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|8/12|c.756-47C>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|8/12|c.690-47C>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|7/9|n.722-47C>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|7/10|c.597-47C>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|7/11|c.597-47C>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|5/9|n.*422-47C>G|||||| 22 45241125 . C T . . ANN=T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.690-24C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.690-24C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.690-24C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.690-24C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.690-24C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.690-24C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.597-24C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.597-24C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.597-24C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.597-24C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.597-24C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.597-24C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|12/16|c.1227-24C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|12/16|c.1227-24C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|10/14|c.990-24C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|10/14|c.963-24C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|8/12|c.756-24C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|8/12|c.690-24C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|7/9|n.722-24C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|7/10|c.597-24C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|7/11|c.597-24C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|5/9|n.*422-24C>T|||||| 22 45241179 . C A . . ANN=A|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|13/17|c.1257C>A|p.Ile419Ile|1257/2043|1257/1932|419/643||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|13/17|c.1257C>A|p.Ile419Ile|1257/2043|1257/1932|419/643||,A|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|11/15|c.1020C>A|p.Ile340Ile|1262/2013|1020/1695|340/564||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|11/15|c.993C>A|p.Ile331Ile|993/1857|993/1668|331/555||,A|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|9/13|c.786C>A|p.Ile262Ile|788/1590|786/1512|262/503||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|9/13|c.720C>A|p.Ile240Ile|861/1725|720/1395|240/464||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|8/11|c.627C>A|p.Ile209Ile|723/1484|627/918|209/305||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|8/12|c.627C>A|p.Ile209Ile|720/1584|627/1302|209/433||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.720C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.720C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.720C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.720C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.720C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.720C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.627C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.627C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.627C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.627C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.627C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.627C>A||||||,A|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|6/10|n.*452C>A|||||36985|,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|8/10|n.752C>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|6/10|n.*452C>A|||||| 22 45241205 . C T . . ANN=T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|13/17|c.1283C>T|p.Thr428Met|1283/2043|1283/1932|428/643||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|13/17|c.1283C>T|p.Thr428Met|1283/2043|1283/1932|428/643||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|11/15|c.1046C>T|p.Thr349Met|1288/2013|1046/1695|349/564||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|11/15|c.1019C>T|p.Thr340Met|1019/1857|1019/1668|340/555||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|9/13|c.812C>T|p.Thr271Met|814/1590|812/1512|271/503||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|9/13|c.746C>T|p.Thr249Met|887/1725|746/1395|249/464||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|8/11|c.653C>T|p.Thr218Met|749/1484|653/918|218/305||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|8/12|c.653C>T|p.Thr218Met|746/1584|653/1302|218/433||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.746C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.746C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.746C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.746C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.746C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.746C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.653C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.653C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.653C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.653C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.653C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.653C>T||||||,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|6/10|n.*478C>T|||||37011|,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|8/10|n.778C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|6/10|n.*478C>T|||||| 22 45241206 . G A . . ANN=A|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|13/17|c.1284G>A|p.Thr428Thr|1284/2043|1284/1932|428/643||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|13/17|c.1284G>A|p.Thr428Thr|1284/2043|1284/1932|428/643||,A|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|11/15|c.1047G>A|p.Thr349Thr|1289/2013|1047/1695|349/564||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|11/15|c.1020G>A|p.Thr340Thr|1020/1857|1020/1668|340/555||,A|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|9/13|c.813G>A|p.Thr271Thr|815/1590|813/1512|271/503||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|9/13|c.747G>A|p.Thr249Thr|888/1725|747/1395|249/464||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|8/11|c.654G>A|p.Thr218Thr|750/1484|654/918|218/305||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|8/12|c.654G>A|p.Thr218Thr|747/1584|654/1302|218/433||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.747G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.747G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.747G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.747G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.747G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.747G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.654G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.654G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.654G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.654G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.654G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.654G>A||||||,A|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|6/10|n.*479G>A|||||37012|,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|8/10|n.779G>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|6/10|n.*479G>A|||||| 22 45243842 . C G . . ANN=G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.764-11C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.764-11C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.764-11C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.764-11C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.764-11C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.764-11C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.671-11C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.671-11C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.671-11C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.671-11C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.671-11C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.671-11C>G||||||,G|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|13/16|c.1301-11C>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|13/16|c.1301-11C>G||||||,G|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|11/14|c.1064-11C>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|11/14|c.1037-11C>G||||||,G|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|9/12|c.830-11C>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|9/12|c.764-11C>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|8/9|n.796-11C>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|8/10|c.671-11C>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|8/11|c.671-11C>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|6/9|n.*496-11C>G|||||| 22 45243863 . C T . . ANN=T|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|14/17|c.1311C>T|p.Thr437Thr|1311/2043|1311/1932|437/643||,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|14/17|c.1311C>T|p.Thr437Thr|1311/2043|1311/1932|437/643||,T|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|12/15|c.1074C>T|p.Thr358Thr|1316/2013|1074/1695|358/564||,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|12/15|c.1047C>T|p.Thr349Thr|1047/1857|1047/1668|349/555||,T|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|10/13|c.840C>T|p.Thr280Thr|842/1590|840/1512|280/503||,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|10/13|c.774C>T|p.Thr258Thr|915/1725|774/1395|258/464||,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|9/11|c.681C>T|p.Thr227Thr|777/1484|681/918|227/305||,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|9/12|c.681C>T|p.Thr227Thr|774/1584|681/1302|227/433||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.774C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.774C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.774C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.774C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.774C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.774C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.681C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.681C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.681C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.681C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.681C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.681C>T||||||,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|7/10|n.*506C>T|||||39669|,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|9/10|n.806C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|7/10|n.*506C>T|||||| 22 45243899 . C T . . ANN=T|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|14/17|c.1347C>T|p.Thr449Thr|1347/2043|1347/1932|449/643||,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|14/17|c.1347C>T|p.Thr449Thr|1347/2043|1347/1932|449/643||,T|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|12/15|c.1110C>T|p.Thr370Thr|1352/2013|1110/1695|370/564||,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|12/15|c.1083C>T|p.Thr361Thr|1083/1857|1083/1668|361/555||,T|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|10/13|c.876C>T|p.Thr292Thr|878/1590|876/1512|292/503||,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|10/13|c.810C>T|p.Thr270Thr|951/1725|810/1395|270/464||,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|9/11|c.717C>T|p.Thr239Thr|813/1484|717/918|239/305||,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|9/12|c.717C>T|p.Thr239Thr|810/1584|717/1302|239/433||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.810C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.810C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.810C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.810C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.810C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.810C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.717C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.717C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.717C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.717C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.717C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.717C>T||||||,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|7/10|n.*542C>T|||||39705|,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|9/10|n.842C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|7/10|n.*542C>T|||||| 22 45243914 . G A . . ANN=A|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|14/17|c.1362G>A|p.Gln454Gln|1362/2043|1362/1932|454/643||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|14/17|c.1362G>A|p.Gln454Gln|1362/2043|1362/1932|454/643||,A|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|12/15|c.1125G>A|p.Gln375Gln|1367/2013|1125/1695|375/564||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|12/15|c.1098G>A|p.Gln366Gln|1098/1857|1098/1668|366/555||,A|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|10/13|c.891G>A|p.Gln297Gln|893/1590|891/1512|297/503||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|10/13|c.825G>A|p.Gln275Gln|966/1725|825/1395|275/464||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|9/11|c.732G>A|p.Gln244Gln|828/1484|732/918|244/305||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|9/12|c.732G>A|p.Gln244Gln|825/1584|732/1302|244/433||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.825G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.825G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.825G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.825G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.825G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.825G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.732G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.732G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.732G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.732G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.732G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.732G>A||||||,A|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|7/10|n.*557G>A|||||39720|,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|9/10|n.857G>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|7/10|n.*557G>A|||||| 22 45243920 . C A . . ANN=A|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|14/17|c.1368C>A|p.Leu456Leu|1368/2043|1368/1932|456/643||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|14/17|c.1368C>A|p.Leu456Leu|1368/2043|1368/1932|456/643||,A|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|12/15|c.1131C>A|p.Leu377Leu|1373/2013|1131/1695|377/564||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|12/15|c.1104C>A|p.Leu368Leu|1104/1857|1104/1668|368/555||,A|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|10/13|c.897C>A|p.Leu299Leu|899/1590|897/1512|299/503||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|10/13|c.831C>A|p.Leu277Leu|972/1725|831/1395|277/464||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|9/11|c.738C>A|p.Leu246Leu|834/1484|738/918|246/305||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|9/12|c.738C>A|p.Leu246Leu|831/1584|738/1302|246/433||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.831C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.831C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.831C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.831C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.831C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.831C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.738C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.738C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.738C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.738C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.738C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.738C>A||||||,A|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|7/10|n.*563C>A|||||39726|,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|9/10|n.863C>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|7/10|n.*563C>A|||||| 22 45243933 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|14/16|c.1378+3G>A||||||,A|splice_region_variant&intron_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|14/16|c.1378+3G>A||||||,A|splice_region_variant&intron_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|12/14|c.1141+3G>A||||||,A|splice_region_variant&intron_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|12/14|c.1114+3G>A||||||,A|splice_region_variant&intron_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|10/12|c.907+3G>A||||||,A|splice_region_variant&intron_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|10/12|c.841+3G>A||||||,A|splice_region_variant&intron_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|9/9|n.873+3G>A||||||,A|splice_region_variant&intron_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|9/10|c.748+3G>A||||||,A|splice_region_variant&intron_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|9/11|c.748+3G>A||||||,A|splice_region_variant&intron_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|7/9|n.*573+3G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.841+3G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.841+3G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.841+3G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.841+3G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.841+3G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.841+3G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.748+3G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.748+3G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.748+3G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.748+3G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.748+3G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.748+3G>A|||||| 22 45243980 . C T . . ANN=T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.841+50C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.841+50C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.841+50C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.841+50C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.841+50C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.841+50C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.748+50C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.748+50C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.748+50C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.748+50C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.748+50C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.748+50C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|14/16|c.1378+50C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|14/16|c.1378+50C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|12/14|c.1141+50C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|12/14|c.1114+50C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|10/12|c.907+50C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|10/12|c.841+50C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|9/9|n.873+50C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|9/10|c.748+50C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|9/11|c.748+50C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|7/9|n.*573+50C>T|||||| 22 45244782 . G C . . ANN=C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.842-30G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.842-30G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.842-30G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.842-30G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.842-30G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.842-30G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.749-30G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.749-30G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.749-30G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.749-30G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.749-30G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.749-30G>C||||||,C|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|14/16|c.1379-30G>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|14/16|c.1379-30G>C||||||,C|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|12/14|c.1142-30G>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|12/14|c.1115-30G>C||||||,C|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|10/12|c.908-30G>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|10/12|c.842-30G>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|9/9|n.874-30G>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|9/10|c.749-30G>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|9/11|c.749-30G>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|7/9|n.*574-30G>C|||||| 22 45244784 . C A . . ANN=A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.842-28C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.842-28C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.842-28C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.842-28C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.842-28C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.842-28C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.749-28C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.749-28C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.749-28C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.749-28C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.749-28C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.749-28C>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|14/16|c.1379-28C>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|14/16|c.1379-28C>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|12/14|c.1142-28C>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|12/14|c.1115-28C>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|10/12|c.908-28C>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|10/12|c.842-28C>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|9/9|n.874-28C>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|9/10|c.749-28C>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|9/11|c.749-28C>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|7/9|n.*574-28C>A|||||| 22 45244819 . C T . . ANN=T|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|15/17|c.1386C>T|p.Pro462Pro|1386/2043|1386/1932|462/643||,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|15/17|c.1386C>T|p.Pro462Pro|1386/2043|1386/1932|462/643||,T|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|13/15|c.1149C>T|p.Pro383Pro|1391/2013|1149/1695|383/564||,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|13/15|c.1122C>T|p.Pro374Pro|1122/1857|1122/1668|374/555||,T|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|11/13|c.915C>T|p.Pro305Pro|917/1590|915/1512|305/503||,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|11/13|c.849C>T|p.Pro283Pro|990/1725|849/1395|283/464||,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|10/11|c.756C>T|p.Pro252Pro|852/1484|756/918|252/305||,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|10/12|c.756C>T|p.Pro252Pro|849/1584|756/1302|252/433||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.849C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.849C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.849C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.849C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.849C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.849C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.756C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.756C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.756C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.756C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.756C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.756C>T||||||,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|8/10|n.*581C>T|||||40625|,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|10/10|n.881C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|8/10|n.*581C>T|||||| 22 45244919 . G A . . ANN=A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|15/17|c.1486G>A|p.Glu496Lys|1486/2043|1486/1932|496/643||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|15/17|c.1486G>A|p.Glu496Lys|1486/2043|1486/1932|496/643||,A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|13/15|c.1249G>A|p.Glu417Lys|1491/2013|1249/1695|417/564||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|13/15|c.1222G>A|p.Glu408Lys|1222/1857|1222/1668|408/555||,A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|11/13|c.1015G>A|p.Glu339Lys|1017/1590|1015/1512|339/503||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|11/13|c.949G>A|p.Glu317Lys|1090/1725|949/1395|317/464||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|10/11|c.856G>A|p.Glu286Lys|952/1484|856/918|286/305||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|10/12|c.856G>A|p.Glu286Lys|949/1584|856/1302|286/433||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.949G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.949G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.949G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.949G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.949G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.949G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.856G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.856G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.856G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.856G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.856G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.856G>A||||||,A|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|8/10|n.*681G>A|||||40725|,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|10/10|n.981G>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|8/10|n.*681G>A|||||| 22 45244930 . C T . . ANN=T|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|15/17|c.1497C>T|p.Leu499Leu|1497/2043|1497/1932|499/643||,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|15/17|c.1497C>T|p.Leu499Leu|1497/2043|1497/1932|499/643||,T|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|13/15|c.1260C>T|p.Leu420Leu|1502/2013|1260/1695|420/564||,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|13/15|c.1233C>T|p.Leu411Leu|1233/1857|1233/1668|411/555||,T|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|11/13|c.1026C>T|p.Leu342Leu|1028/1590|1026/1512|342/503||,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|11/13|c.960C>T|p.Leu320Leu|1101/1725|960/1395|320/464||,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|10/11|c.867C>T|p.Leu289Leu|963/1484|867/918|289/305||,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|10/12|c.867C>T|p.Leu289Leu|960/1584|867/1302|289/433||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.960C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.960C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.960C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.960C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.960C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.960C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.867C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.867C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.867C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.867C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.867C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.867C>T||||||,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|8/10|n.*692C>T|||||40736|,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|10/10|n.992C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|8/10|n.*692C>T|||||| 22 45244945 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|15/16|c.1507+5G>A||||||,A|splice_region_variant&intron_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|15/16|c.1507+5G>A||||||,A|splice_region_variant&intron_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|13/14|c.1270+5G>A||||||,A|splice_region_variant&intron_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|13/14|c.1243+5G>A||||||,A|splice_region_variant&intron_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|11/12|c.1036+5G>A||||||,A|splice_region_variant&intron_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|11/12|c.970+5G>A||||||,A|splice_region_variant&intron_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|10/10|c.877+5G>A||||||,A|splice_region_variant&intron_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|10/11|c.877+5G>A||||||,A|splice_region_variant&intron_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|8/9|n.*702+5G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.970+5G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.970+5G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.970+5G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.970+5G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.970+5G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.970+5G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.877+5G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.877+5G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.877+5G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.877+5G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.877+5G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.877+5G>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|10/10|n.1007G>A|||||| 22 45244967 . G T . . ANN=T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.970+27G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.970+27G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.970+27G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.970+27G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.970+27G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.970+27G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.877+27G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.877+27G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.877+27G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.877+27G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.877+27G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.877+27G>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|15/16|c.1507+27G>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|15/16|c.1507+27G>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|13/14|c.1270+27G>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|13/14|c.1243+27G>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|11/12|c.1036+27G>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|11/12|c.970+27G>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|10/10|c.877+27G>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|10/11|c.877+27G>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|8/9|n.*702+27G>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|10/10|n.1029G>T|||||| 22 45244983 . A G . . ANN=G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.970+43A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.970+43A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.970+43A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.970+43A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.970+43A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.970+43A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.877+43A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.877+43A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.877+43A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.877+43A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.877+43A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.877+43A>G||||||,G|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|15/16|c.1507+43A>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|15/16|c.1507+43A>G||||||,G|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|13/14|c.1270+43A>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|13/14|c.1243+43A>G||||||,G|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|11/12|c.1036+43A>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|11/12|c.970+43A>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|10/10|c.877+43A>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|10/11|c.877+43A>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|8/9|n.*702+43A>G||||||,G|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|10/10|n.1045A>G|||||| 22 45255580 . G C . . ANN=C|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|12/13|c.1057G>C|p.Glu353Gln|1059/1590|1057/1512|353/503||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.971-31G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.971-31G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.971-31G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.971-31G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.971-31G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.971-31G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.878-31G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.878-31G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.878-31G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.878-31G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.878-31G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.878-31G>C||||||,C|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|15/16|c.1508-31G>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|15/16|c.1508-31G>C||||||,C|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|13/14|c.1271-31G>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|13/14|c.1244-31G>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|11/12|c.971-31G>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|10/10|c.878-2575G>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|10/11|c.878-31G>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|8/9|n.*703-31G>C||||||,C|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|1/2|n.40G>C|||||| 22 45255594 . G A . . ANN=A|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|12/13|c.1071G>A|p.Glu357Glu|1073/1590|1071/1512|357/503||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.971-17G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.971-17G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.971-17G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.971-17G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.971-17G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.971-17G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.878-17G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.878-17G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.878-17G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.878-17G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.878-17G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.878-17G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|15/16|c.1508-17G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|15/16|c.1508-17G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|13/14|c.1271-17G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|13/14|c.1244-17G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|11/12|c.971-17G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|10/10|c.878-2561G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|10/11|c.878-17G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|8/9|n.*703-17G>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|1/2|n.54G>A|||||| 22 45255599 . A C . . ANN=C|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|12/13|c.1076A>C|p.His359Pro|1078/1590|1076/1512|359/503||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.971-12A>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.971-12A>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.971-12A>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.971-12A>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.971-12A>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.971-12A>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.878-12A>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.878-12A>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.878-12A>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.878-12A>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.878-12A>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.878-12A>C||||||,C|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|15/16|c.1508-12A>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|15/16|c.1508-12A>C||||||,C|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|13/14|c.1271-12A>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|13/14|c.1244-12A>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|11/12|c.971-12A>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|10/10|c.878-2556A>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|10/11|c.878-12A>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|8/9|n.*703-12A>C||||||,C|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|1/2|n.59A>C|||||| 22 45255628 . C T . . ANN=T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|16/17|c.1525C>T|p.Arg509Cys|1525/2043|1525/1932|509/643||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|16/17|c.1525C>T|p.Arg509Cys|1525/2043|1525/1932|509/643||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|14/15|c.1288C>T|p.Arg430Cys|1530/2013|1288/1695|430/564||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|14/15|c.1261C>T|p.Arg421Cys|1261/1857|1261/1668|421/555||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|12/13|c.1105C>T|p.Arg369Cys|1107/1590|1105/1512|369/503||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|12/13|c.988C>T|p.Arg330Cys|1129/1725|988/1395|330/464||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|11/12|c.895C>T|p.Arg299Cys|988/1584|895/1302|299/433||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.988C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.988C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.988C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.988C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.988C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.988C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.895C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.895C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.895C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.895C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.895C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.895C>T||||||,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/10|n.*720C>T|||||51434|,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|10/10|c.878-2527C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/10|n.*720C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|1/2|n.88C>T|||||| 22 45255637 . G C . . ANN=C|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|16/17|c.1534G>C|p.Gly512Arg|1534/2043|1534/1932|512/643||,C|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|16/17|c.1534G>C|p.Gly512Arg|1534/2043|1534/1932|512/643||,C|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|14/15|c.1297G>C|p.Gly433Arg|1539/2013|1297/1695|433/564||,C|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|14/15|c.1270G>C|p.Gly424Arg|1270/1857|1270/1668|424/555||,C|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|12/13|c.1114G>C|p.Gly372Arg|1116/1590|1114/1512|372/503||,C|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|12/13|c.997G>C|p.Gly333Arg|1138/1725|997/1395|333/464||,C|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|11/12|c.904G>C|p.Gly302Arg|997/1584|904/1302|302/433||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.997G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.997G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.997G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.997G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.997G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.997G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.904G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.904G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.904G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.904G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.904G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.904G>C||||||,C|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/10|n.*729G>C|||||51443|,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|10/10|c.878-2518G>C||||||,C|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/10|n.*729G>C||||||,C|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|1/2|n.97G>C|||||| 22 45255644 . G T . . ANN=T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|16/17|c.1541G>T|p.Arg514Leu|1541/2043|1541/1932|514/643||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|16/17|c.1541G>T|p.Arg514Leu|1541/2043|1541/1932|514/643||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|14/15|c.1304G>T|p.Arg435Leu|1546/2013|1304/1695|435/564||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|14/15|c.1277G>T|p.Arg426Leu|1277/1857|1277/1668|426/555||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|12/13|c.1121G>T|p.Arg374Leu|1123/1590|1121/1512|374/503||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|12/13|c.1004G>T|p.Arg335Leu|1145/1725|1004/1395|335/464||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|11/12|c.911G>T|p.Arg304Leu|1004/1584|911/1302|304/433||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.1004G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.1004G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.1004G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.1004G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.1004G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.1004G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.911G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.911G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.911G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.911G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.911G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.911G>T||||||,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/10|n.*736G>T|||||51450|,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|10/10|c.878-2511G>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/10|n.*736G>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|1/2|n.104G>T|||||| 22 45255655 . C A,T . . ANN=T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|16/17|c.1552C>T|p.Arg518Trp|1552/2043|1552/1932|518/643||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|16/17|c.1552C>T|p.Arg518Trp|1552/2043|1552/1932|518/643||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|14/15|c.1315C>T|p.Arg439Trp|1557/2013|1315/1695|439/564||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|14/15|c.1288C>T|p.Arg430Trp|1288/1857|1288/1668|430/555||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|12/13|c.1132C>T|p.Arg378Trp|1134/1590|1132/1512|378/503||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|12/13|c.1015C>T|p.Arg339Trp|1156/1725|1015/1395|339/464||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|11/12|c.922C>T|p.Arg308Trp|1015/1584|922/1302|308/433||,A|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|16/17|c.1552C>A|p.Arg518Arg|1552/2043|1552/1932|518/643||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|16/17|c.1552C>A|p.Arg518Arg|1552/2043|1552/1932|518/643||,A|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|14/15|c.1315C>A|p.Arg439Arg|1557/2013|1315/1695|439/564||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|14/15|c.1288C>A|p.Arg430Arg|1288/1857|1288/1668|430/555||,A|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|12/13|c.1132C>A|p.Arg378Arg|1134/1590|1132/1512|378/503||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|12/13|c.1015C>A|p.Arg339Arg|1156/1725|1015/1395|339/464||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|11/12|c.922C>A|p.Arg308Arg|1015/1584|922/1302|308/433||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.1015C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.1015C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.1015C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.1015C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.1015C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.1015C>A||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.1015C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.1015C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.1015C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.1015C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.1015C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.1015C>T||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.922C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.922C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.922C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.922C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.922C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.922C>A||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.922C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.922C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.922C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.922C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.922C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.922C>T||||||,A|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/10|n.*747C>A|||||51461|,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/10|n.*747C>T|||||51461|,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|10/10|c.878-2500C>A||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|10/10|c.878-2500C>T||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/10|n.*747C>A||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/10|n.*747C>T||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|1/2|n.115C>A||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|1/2|n.115C>T|||||| 22 45255663 . C T . . ANN=T|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|16/17|c.1560C>T|p.Leu520Leu|1560/2043|1560/1932|520/643||,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|16/17|c.1560C>T|p.Leu520Leu|1560/2043|1560/1932|520/643||,T|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|14/15|c.1323C>T|p.Leu441Leu|1565/2013|1323/1695|441/564||,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|14/15|c.1296C>T|p.Leu432Leu|1296/1857|1296/1668|432/555||,T|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|12/13|c.1140C>T|p.Leu380Leu|1142/1590|1140/1512|380/503||,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|12/13|c.1023C>T|p.Leu341Leu|1164/1725|1023/1395|341/464||,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|11/12|c.930C>T|p.Leu310Leu|1023/1584|930/1302|310/433||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.1023C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.1023C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.1023C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.1023C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.1023C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.1023C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.930C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.930C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.930C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.930C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.930C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.930C>T||||||,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/10|n.*755C>T|||||51469|,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|10/10|c.878-2492C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/10|n.*755C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|1/2|n.123C>T|||||| 22 45255677 . A G . . ANN=G|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|16/17|c.1574A>G|p.Tyr525Cys|1574/2043|1574/1932|525/643||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|16/17|c.1574A>G|p.Tyr525Cys|1574/2043|1574/1932|525/643||,G|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|14/15|c.1337A>G|p.Tyr446Cys|1579/2013|1337/1695|446/564||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|14/15|c.1310A>G|p.Tyr437Cys|1310/1857|1310/1668|437/555||,G|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|12/13|c.1154A>G|p.Tyr385Cys|1156/1590|1154/1512|385/503||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|12/13|c.1037A>G|p.Tyr346Cys|1178/1725|1037/1395|346/464||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|11/12|c.944A>G|p.Tyr315Cys|1037/1584|944/1302|315/433||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.1037A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.1037A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.1037A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.1037A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.1037A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.1037A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.944A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.944A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.944A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.944A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.944A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.944A>G||||||,G|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/10|n.*769A>G|||||51483|,G|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|10/10|c.878-2478A>G||||||,G|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/10|n.*769A>G||||||,G|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|1/2|n.137A>G|||||| 22 45255681 . C T . . ANN=T|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|16/17|c.1578C>T|p.Val526Val|1578/2043|1578/1932|526/643||,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|16/17|c.1578C>T|p.Val526Val|1578/2043|1578/1932|526/643||,T|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|14/15|c.1341C>T|p.Val447Val|1583/2013|1341/1695|447/564||,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|14/15|c.1314C>T|p.Val438Val|1314/1857|1314/1668|438/555||,T|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|12/13|c.1158C>T|p.Val386Val|1160/1590|1158/1512|386/503||,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|12/13|c.1041C>T|p.Val347Val|1182/1725|1041/1395|347/464||,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|11/12|c.948C>T|p.Val316Val|1041/1584|948/1302|316/433||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.1041C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.1041C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.1041C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.1041C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.1041C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.1041C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.948C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.948C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.948C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.948C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.948C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.948C>T||||||,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/10|n.*773C>T|||||51487|,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|10/10|c.878-2474C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/10|n.*773C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|1/2|n.141C>T|||||| 22 45255682 . G A . . ANN=A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|16/17|c.1579G>A|p.Val527Ile|1579/2043|1579/1932|527/643||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|16/17|c.1579G>A|p.Val527Ile|1579/2043|1579/1932|527/643||,A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|14/15|c.1342G>A|p.Val448Ile|1584/2013|1342/1695|448/564||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|14/15|c.1315G>A|p.Val439Ile|1315/1857|1315/1668|439/555||,A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|12/13|c.1159G>A|p.Val387Ile|1161/1590|1159/1512|387/503||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|12/13|c.1042G>A|p.Val348Ile|1183/1725|1042/1395|348/464||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|11/12|c.949G>A|p.Val317Ile|1042/1584|949/1302|317/433||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.1042G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.1042G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.1042G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.1042G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.1042G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.1042G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.949G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.949G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.949G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.949G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.949G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.949G>A||||||,A|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/10|n.*774G>A|||||51488|,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|10/10|c.878-2473G>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/10|n.*774G>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|1/2|n.142G>A|||||| 22 45255687 . C T . . ANN=T|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|16/17|c.1584C>T|p.Leu528Leu|1584/2043|1584/1932|528/643||,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|16/17|c.1584C>T|p.Leu528Leu|1584/2043|1584/1932|528/643||,T|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|14/15|c.1347C>T|p.Leu449Leu|1589/2013|1347/1695|449/564||,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|14/15|c.1320C>T|p.Leu440Leu|1320/1857|1320/1668|440/555||,T|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|12/13|c.1164C>T|p.Leu388Leu|1166/1590|1164/1512|388/503||,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|12/13|c.1047C>T|p.Leu349Leu|1188/1725|1047/1395|349/464||,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|11/12|c.954C>T|p.Leu318Leu|1047/1584|954/1302|318/433||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.1047C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.1047C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.1047C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.1047C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.1047C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.1047C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.954C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.954C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.954C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.954C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.954C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.954C>T||||||,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/10|n.*779C>T|||||51493|,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|10/10|c.878-2468C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/10|n.*779C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|1/2|n.147C>T|||||| 22 45255688 . C T . . ANN=T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|16/17|c.1585C>T|p.Arg529Cys|1585/2043|1585/1932|529/643||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|16/17|c.1585C>T|p.Arg529Cys|1585/2043|1585/1932|529/643||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|14/15|c.1348C>T|p.Arg450Cys|1590/2013|1348/1695|450/564||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|14/15|c.1321C>T|p.Arg441Cys|1321/1857|1321/1668|441/555||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|12/13|c.1165C>T|p.Arg389Cys|1167/1590|1165/1512|389/503||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|12/13|c.1048C>T|p.Arg350Cys|1189/1725|1048/1395|350/464||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|11/12|c.955C>T|p.Arg319Cys|1048/1584|955/1302|319/433||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.1048C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.1048C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.1048C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.1048C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.1048C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.1048C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.955C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.955C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.955C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.955C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.955C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.955C>T||||||,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/10|n.*780C>T|||||51494|,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|10/10|c.878-2467C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/10|n.*780C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|1/2|n.148C>T|||||| 22 45255689 . G T . . ANN=T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|16/17|c.1586G>T|p.Arg529Leu|1586/2043|1586/1932|529/643||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|16/17|c.1586G>T|p.Arg529Leu|1586/2043|1586/1932|529/643||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|14/15|c.1349G>T|p.Arg450Leu|1591/2013|1349/1695|450/564||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|14/15|c.1322G>T|p.Arg441Leu|1322/1857|1322/1668|441/555||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|12/13|c.1166G>T|p.Arg389Leu|1168/1590|1166/1512|389/503||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|12/13|c.1049G>T|p.Arg350Leu|1190/1725|1049/1395|350/464||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|11/12|c.956G>T|p.Arg319Leu|1049/1584|956/1302|319/433||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.1049G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.1049G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.1049G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.1049G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.1049G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.1049G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.956G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.956G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.956G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.956G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.956G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.956G>T||||||,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/10|n.*781G>T|||||51495|,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|10/10|c.878-2466G>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/10|n.*781G>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|1/2|n.149G>T|||||| 22 45255711 . T C . . ANN=C|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|16/17|c.1608T>C|p.His536His|1608/2043|1608/1932|536/643||,C|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|16/17|c.1608T>C|p.His536His|1608/2043|1608/1932|536/643||,C|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|14/15|c.1371T>C|p.His457His|1613/2013|1371/1695|457/564||,C|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|14/15|c.1344T>C|p.His448His|1344/1857|1344/1668|448/555||,C|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|12/13|c.1188T>C|p.His396His|1190/1590|1188/1512|396/503||,C|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|12/13|c.1071T>C|p.His357His|1212/1725|1071/1395|357/464||,C|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|11/12|c.978T>C|p.His326His|1071/1584|978/1302|326/433||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.1071T>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.1071T>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.1071T>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.1071T>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.1071T>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.1071T>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.978T>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.978T>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.978T>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.978T>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.978T>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.978T>C||||||,C|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/10|n.*803T>C|||||51517|,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|10/10|c.878-2444T>C||||||,C|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/10|n.*803T>C||||||,C|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|1/2|n.171T>C|||||| 22 45255713 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|16/17|c.1610C>T|p.Ala537Val|1610/2043|1610/1932|537/643||,T|missense_variant&splice_region_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|16/17|c.1610C>T|p.Ala537Val|1610/2043|1610/1932|537/643||,T|missense_variant&splice_region_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|14/15|c.1373C>T|p.Ala458Val|1615/2013|1373/1695|458/564||,T|missense_variant&splice_region_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|14/15|c.1346C>T|p.Ala449Val|1346/1857|1346/1668|449/555||,T|missense_variant&splice_region_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|12/13|c.1190C>T|p.Ala397Val|1192/1590|1190/1512|397/503||,T|missense_variant&splice_region_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|12/13|c.1073C>T|p.Ala358Val|1214/1725|1073/1395|358/464||,T|missense_variant&splice_region_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|11/12|c.980C>T|p.Ala327Val|1073/1584|980/1302|327/433||,T|splice_region_variant&non_coding_exon_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/10|n.*805C>T||||||,T|splice_region_variant&non_coding_exon_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|1/2|n.173C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.1073C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.1073C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.1073C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.1073C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.1073C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.1073C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.980C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.980C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.980C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.980C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.980C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.980C>T||||||,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/10|n.*805C>T|||||51519|,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|10/10|c.878-2442C>T|||||| 22 45255714 . G A,C,T . . ANN=A|splice_region_variant&synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|16/17|c.1611G>A|p.Ala537Ala|1611/2043|1611/1932|537/643||,C|splice_region_variant&synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|16/17|c.1611G>C|p.Ala537Ala|1611/2043|1611/1932|537/643||,T|splice_region_variant&synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|16/17|c.1611G>T|p.Ala537Ala|1611/2043|1611/1932|537/643||,A|splice_region_variant&synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|16/17|c.1611G>A|p.Ala537Ala|1611/2043|1611/1932|537/643||,C|splice_region_variant&synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|16/17|c.1611G>C|p.Ala537Ala|1611/2043|1611/1932|537/643||,T|splice_region_variant&synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|16/17|c.1611G>T|p.Ala537Ala|1611/2043|1611/1932|537/643||,A|splice_region_variant&synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|14/15|c.1374G>A|p.Ala458Ala|1616/2013|1374/1695|458/564||,C|splice_region_variant&synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|14/15|c.1374G>C|p.Ala458Ala|1616/2013|1374/1695|458/564||,T|splice_region_variant&synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|14/15|c.1374G>T|p.Ala458Ala|1616/2013|1374/1695|458/564||,A|splice_region_variant&synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|14/15|c.1347G>A|p.Ala449Ala|1347/1857|1347/1668|449/555||,C|splice_region_variant&synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|14/15|c.1347G>C|p.Ala449Ala|1347/1857|1347/1668|449/555||,T|splice_region_variant&synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|14/15|c.1347G>T|p.Ala449Ala|1347/1857|1347/1668|449/555||,A|splice_region_variant&synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|12/13|c.1191G>A|p.Ala397Ala|1193/1590|1191/1512|397/503||,C|splice_region_variant&synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|12/13|c.1191G>C|p.Ala397Ala|1193/1590|1191/1512|397/503||,T|splice_region_variant&synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|12/13|c.1191G>T|p.Ala397Ala|1193/1590|1191/1512|397/503||,A|splice_region_variant&synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|12/13|c.1074G>A|p.Ala358Ala|1215/1725|1074/1395|358/464||,C|splice_region_variant&synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|12/13|c.1074G>C|p.Ala358Ala|1215/1725|1074/1395|358/464||,T|splice_region_variant&synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|12/13|c.1074G>T|p.Ala358Ala|1215/1725|1074/1395|358/464||,A|splice_region_variant&synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|11/12|c.981G>A|p.Ala327Ala|1074/1584|981/1302|327/433||,C|splice_region_variant&synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|11/12|c.981G>C|p.Ala327Ala|1074/1584|981/1302|327/433||,T|splice_region_variant&synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|11/12|c.981G>T|p.Ala327Ala|1074/1584|981/1302|327/433||,A|splice_region_variant&non_coding_exon_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/10|n.*806G>A||||||,C|splice_region_variant&non_coding_exon_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/10|n.*806G>C||||||,T|splice_region_variant&non_coding_exon_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/10|n.*806G>T||||||,A|splice_region_variant&non_coding_exon_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|1/2|n.174G>A||||||,C|splice_region_variant&non_coding_exon_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|1/2|n.174G>C||||||,T|splice_region_variant&non_coding_exon_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|1/2|n.174G>T||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.1074G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.1074G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.1074G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.1074G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.1074G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.1074G>A||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.1074G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.1074G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.1074G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.1074G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.1074G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.1074G>C||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.1074G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.1074G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.1074G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.1074G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.1074G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.1074G>T||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.981G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.981G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.981G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.981G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.981G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.981G>A||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.981G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.981G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.981G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.981G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.981G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.981G>C||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.981G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.981G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.981G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.981G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.981G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.981G>T||||||,A|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/10|n.*806G>A|||||51520|,C|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/10|n.*806G>C|||||51520|,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/10|n.*806G>T|||||51520|,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|10/10|c.878-2441G>A||||||,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|10/10|c.878-2441G>C||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|10/10|c.878-2441G>T|||||| 22 45255727 . G C . . ANN=C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.1074+13G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.1074+13G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.1074+13G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.1074+13G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.1074+13G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.1074+13G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.981+13G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.981+13G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.981+13G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.981+13G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.981+13G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.981+13G>C||||||,C|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|16/16|c.1611+13G>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|16/16|c.1611+13G>C||||||,C|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|14/14|c.1374+13G>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|14/14|c.1347+13G>C||||||,C|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|12/12|c.1191+13G>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|12/12|c.1074+13G>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|10/10|c.878-2428G>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|11/11|c.981+13G>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/9|n.*806+13G>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|1/1|n.174+13G>C|||||| 22 45255728 . G C . . ANN=C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.1074+14G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.1074+14G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.1074+14G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.1074+14G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.1074+14G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.1074+14G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.981+14G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.981+14G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.981+14G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.981+14G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.981+14G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.981+14G>C||||||,C|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|16/16|c.1611+14G>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|16/16|c.1611+14G>C||||||,C|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|14/14|c.1374+14G>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|14/14|c.1347+14G>C||||||,C|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|12/12|c.1191+14G>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|12/12|c.1074+14G>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|10/10|c.878-2427G>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|11/11|c.981+14G>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/9|n.*806+14G>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|1/1|n.174+14G>C|||||| 22 45255732 . G GA . . ANN=A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.1074+18_1074+19insA||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.1074+18_1074+19insA||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.1074+18_1074+19insA||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.1074+18_1074+19insA||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.1074+18_1074+19insA||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.1074+18_1074+19insA||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.981+18_981+19insA||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.981+18_981+19insA||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.981+18_981+19insA||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.981+18_981+19insA||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.981+18_981+19insA||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.981+18_981+19insA||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|16/16|c.1611+19dupA||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|16/16|c.1611+19dupA||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|14/14|c.1374+19dupA||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|14/14|c.1347+19dupA||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|12/12|c.1191+19dupA||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|12/12|c.1074+19dupA||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|10/10|c.878-2422dupA||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|11/11|c.981+19dupA||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/9|n.*806+19dupA||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|1/1|n.174+19dupA||||||INFO_REALIGN_3_PRIME 22 45255735 . C T . . ANN=T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.1074+21C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.1074+21C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.1074+21C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.1074+21C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.1074+21C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.1074+21C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.981+21C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.981+21C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.981+21C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.981+21C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.981+21C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.981+21C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|16/16|c.1611+21C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|16/16|c.1611+21C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|14/14|c.1374+21C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|14/14|c.1347+21C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|12/12|c.1191+21C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|12/12|c.1074+21C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|10/10|c.878-2420C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|11/11|c.981+21C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/9|n.*806+21C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|1/1|n.174+21C>T|||||| 22 45255749 . C T . . ANN=T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.1074+35C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.1074+35C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.1074+35C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.1074+35C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.1074+35C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.1074+35C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.981+35C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.981+35C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.981+35C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.981+35C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.981+35C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.981+35C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|16/16|c.1611+35C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|16/16|c.1611+35C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|14/14|c.1374+35C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|14/14|c.1347+35C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|12/12|c.1191+35C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|12/12|c.1074+35C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|10/10|c.878-2406C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|11/11|c.981+35C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/9|n.*806+35C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|1/1|n.174+35C>T|||||| 22 45255751 . G T . . ANN=T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.1074+37G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.1074+37G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.1074+37G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.1074+37G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.1074+37G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.1074+37G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.981+37G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.981+37G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.981+37G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.981+37G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.981+37G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.981+37G>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|16/16|c.1611+37G>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|16/16|c.1611+37G>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|14/14|c.1374+37G>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|14/14|c.1347+37G>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|12/12|c.1191+37G>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|12/12|c.1074+37G>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|10/10|c.878-2404G>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|11/11|c.981+37G>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/9|n.*806+37G>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|1/1|n.174+37G>T|||||| 22 45255763 . C G . . ANN=G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.1074+49C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.1074+49C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.1074+49C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.1074+49C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.1074+49C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.1074+49C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.981+49C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.981+49C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.981+49C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.981+49C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.981+49C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.981+49C>G||||||,G|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|16/16|c.1611+49C>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|16/16|c.1611+49C>G||||||,G|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|14/14|c.1374+49C>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|14/14|c.1347+49C>G||||||,G|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|12/12|c.1191+49C>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|12/12|c.1074+49C>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|10/10|c.878-2392C>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|11/11|c.981+49C>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/9|n.*806+49C>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|1/1|n.174+49C>G|||||| 22 45255764 . C A . . ANN=A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.1074+50C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.1074+50C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.1074+50C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.1074+50C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.1074+50C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.1074+50C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.981+50C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.981+50C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.981+50C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.981+50C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.981+50C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.981+50C>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|16/16|c.1611+50C>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|16/16|c.1611+50C>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|14/14|c.1374+50C>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|14/14|c.1347+50C>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|12/12|c.1191+50C>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|12/12|c.1074+50C>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|10/10|c.878-2391C>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|11/11|c.981+50C>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/9|n.*806+50C>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|1/1|n.174+50C>A|||||| 22 45258106 . C T . . ANN=T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.1075-49C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.1075-49C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.1075-49C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.1075-49C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.1075-49C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.1075-49C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.982-49C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.982-49C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.982-49C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.982-49C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.982-49C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.982-49C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|16/16|c.1612-49C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|16/16|c.1612-49C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|14/14|c.1375-49C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|14/14|c.1348-49C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|12/12|c.1192-49C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|12/12|c.1075-49C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|10/10|c.878-49C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|11/11|c.982-49C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/9|n.*807-49C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|1/1|n.175-49C>T|||||| 22 45258130 . TTTAC T . . ANN=|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.1075-24_1075-21delTTAC||||||,|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.1075-24_1075-21delTTAC||||||,|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.1075-24_1075-21delTTAC||||||,|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.1075-24_1075-21delTTAC||||||,|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.1075-24_1075-21delTTAC||||||,|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.1075-24_1075-21delTTAC||||||,|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.982-24_982-21delTTAC||||||,|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.982-24_982-21delTTAC||||||,|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.982-24_982-21delTTAC||||||,|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.982-24_982-21delTTAC||||||,|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.982-24_982-21delTTAC||||||,|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.982-24_982-21delTTAC||||||,|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|16/16|c.1612-22_1612-19delACTT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|16/16|c.1612-22_1612-19delACTT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|14/14|c.1375-22_1375-19delACTT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|14/14|c.1348-22_1348-19delACTT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|12/12|c.1192-22_1192-19delACTT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|12/12|c.1075-22_1075-19delACTT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|10/10|c.878-22_878-19delACTT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|11/11|c.982-22_982-19delACTT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/9|n.*807-22_*807-19delACTT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|1/1|n.175-22_175-19delACTT||||||INFO_REALIGN_3_PRIME 22 45258149 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|16/16|c.1612-6C>T||||||,T|splice_region_variant&intron_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|16/16|c.1612-6C>T||||||,T|splice_region_variant&intron_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|14/14|c.1375-6C>T||||||,T|splice_region_variant&intron_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|14/14|c.1348-6C>T||||||,T|splice_region_variant&intron_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|12/12|c.1192-6C>T||||||,T|splice_region_variant&intron_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|12/12|c.1075-6C>T||||||,T|splice_region_variant&intron_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|10/10|c.878-6C>T||||||,T|splice_region_variant&intron_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|11/11|c.982-6C>T||||||,T|splice_region_variant&intron_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/9|n.*807-6C>T||||||,T|splice_region_variant&intron_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|1/1|n.175-6C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.1075-6C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.1075-6C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.1075-6C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.1075-6C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.1075-6C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.1075-6C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.982-6C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.982-6C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.982-6C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.982-6C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.982-6C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.982-6C>T|||||| 22 45258160 . C G . . ANN=G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|11/11|c.883C>G|p.Pro295Ala|979/1484|883/918|295/305||,G|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|17/17|c.1617C>G|p.Ser539Ser|1617/2043|1617/1932|539/643||,G|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|17/17|c.1617C>G|p.Ser539Ser|1617/2043|1617/1932|539/643||,G|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|15/15|c.1380C>G|p.Ser460Ser|1622/2013|1380/1695|460/564||,G|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|15/15|c.1353C>G|p.Ser451Ser|1353/1857|1353/1668|451/555||,G|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|13/13|c.1197C>G|p.Ser399Ser|1199/1590|1197/1512|399/503||,G|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|13/13|c.1080C>G|p.Ser360Ser|1221/1725|1080/1395|360/464||,G|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|12/12|c.987C>G|p.Ser329Ser|1080/1584|987/1302|329/433||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.1080C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.1080C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.1080C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.1080C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.1080C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.1080C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.987C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.987C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.987C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.987C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.987C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.987C>G||||||,G|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*812C>G|||||53966|,G|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*812C>G||||||,G|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|2/2|n.180C>G|||||| 22 45258162 . G A . . ANN=A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|17/17|c.1619G>A|p.Arg540Gln|1619/2043|1619/1932|540/643||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|17/17|c.1619G>A|p.Arg540Gln|1619/2043|1619/1932|540/643||,A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|15/15|c.1382G>A|p.Arg461Gln|1624/2013|1382/1695|461/564||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|15/15|c.1355G>A|p.Arg452Gln|1355/1857|1355/1668|452/555||,A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|13/13|c.1199G>A|p.Arg400Gln|1201/1590|1199/1512|400/503||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|13/13|c.1082G>A|p.Arg361Gln|1223/1725|1082/1395|361/464||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|12/12|c.989G>A|p.Arg330Gln|1082/1584|989/1302|330/433||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|11/11|c.885G>A|p.Pro295Pro|981/1484|885/918|295/305||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.1082G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.1082G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.1082G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.1082G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.1082G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.1082G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.989G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.989G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.989G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.989G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.989G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.989G>A||||||,A|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*814G>A|||||53968|,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*814G>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|2/2|n.182G>A|||||| 22 45258168 . G A . . ANN=A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|17/17|c.1625G>A|p.Ser542Asn|1625/2043|1625/1932|542/643||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|17/17|c.1625G>A|p.Ser542Asn|1625/2043|1625/1932|542/643||,A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|15/15|c.1388G>A|p.Ser463Asn|1630/2013|1388/1695|463/564||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|15/15|c.1361G>A|p.Ser454Asn|1361/1857|1361/1668|454/555||,A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|13/13|c.1205G>A|p.Ser402Asn|1207/1590|1205/1512|402/503||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|13/13|c.1088G>A|p.Ser363Asn|1229/1725|1088/1395|363/464||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|12/12|c.995G>A|p.Ser332Asn|1088/1584|995/1302|332/433||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|11/11|c.891G>A|p.Glu297Glu|987/1484|891/918|297/305||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.1088G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.1088G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.1088G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.1088G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.1088G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.1088G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.995G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.995G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.995G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.995G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.995G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.995G>A||||||,A|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*820G>A|||||53974|,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*820G>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|2/2|n.188G>A|||||| 22 45258187 . C G . . ANN=G|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|17/17|c.1644C>G|p.Asn548Lys|1644/2043|1644/1932|548/643||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|17/17|c.1644C>G|p.Asn548Lys|1644/2043|1644/1932|548/643||,G|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|15/15|c.1407C>G|p.Asn469Lys|1649/2013|1407/1695|469/564||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|15/15|c.1380C>G|p.Asn460Lys|1380/1857|1380/1668|460/555||,G|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|13/13|c.1224C>G|p.Asn408Lys|1226/1590|1224/1512|408/503||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|13/13|c.1107C>G|p.Asn369Lys|1248/1725|1107/1395|369/464||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|11/11|c.910C>G|p.Gln304Glu|1006/1484|910/918|304/305||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|12/12|c.1014C>G|p.Asn338Lys|1107/1584|1014/1302|338/433||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.1107C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.1107C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.1107C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.1107C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.1107C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.1107C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.1014C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.1014C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.1014C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.1014C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.1014C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.1014C>G||||||,G|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*839C>G|||||53993|,G|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*839C>G||||||,G|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|2/2|n.207C>G|||||| 22 45258211 . C T . . ANN=T|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|17/17|c.1668C>T|p.Phe556Phe|1668/2043|1668/1932|556/643||,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|17/17|c.1668C>T|p.Phe556Phe|1668/2043|1668/1932|556/643||,T|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|15/15|c.1431C>T|p.Phe477Phe|1673/2013|1431/1695|477/564||,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|15/15|c.1404C>T|p.Phe468Phe|1404/1857|1404/1668|468/555||,T|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|13/13|c.1248C>T|p.Phe416Phe|1250/1590|1248/1512|416/503||,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|13/13|c.1131C>T|p.Phe377Phe|1272/1725|1131/1395|377/464||,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|12/12|c.1038C>T|p.Phe346Phe|1131/1584|1038/1302|346/433||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.1131C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.1131C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.1131C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.1131C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.1131C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.1131C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.1038C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.1038C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.1038C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.1038C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.1038C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.1038C>T||||||,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|11/11|c.*16C>T|||||16|,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*863C>T|||||54017|,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*863C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|2/2|n.231C>T|||||| 22 45258233 . T G . . ANN=G|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|17/17|c.1690T>G|p.Ser564Ala|1690/2043|1690/1932|564/643||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|17/17|c.1690T>G|p.Ser564Ala|1690/2043|1690/1932|564/643||,G|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|15/15|c.1453T>G|p.Ser485Ala|1695/2013|1453/1695|485/564||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|15/15|c.1426T>G|p.Ser476Ala|1426/1857|1426/1668|476/555||,G|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|13/13|c.1270T>G|p.Ser424Ala|1272/1590|1270/1512|424/503||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|13/13|c.1153T>G|p.Ser385Ala|1294/1725|1153/1395|385/464||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|12/12|c.1060T>G|p.Ser354Ala|1153/1584|1060/1302|354/433||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.1153T>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.1153T>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.1153T>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.1153T>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.1153T>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.1153T>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.1060T>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.1060T>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.1060T>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.1060T>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.1060T>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.1060T>G||||||,G|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|11/11|c.*38T>G|||||38|,G|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*885T>G|||||54039|,G|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*885T>G||||||,G|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|2/2|n.253T>G|||||| 22 45258234 . C G . . ANN=G|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|17/17|c.1691C>G|p.Ser564Cys|1691/2043|1691/1932|564/643||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|17/17|c.1691C>G|p.Ser564Cys|1691/2043|1691/1932|564/643||,G|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|15/15|c.1454C>G|p.Ser485Cys|1696/2013|1454/1695|485/564||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|15/15|c.1427C>G|p.Ser476Cys|1427/1857|1427/1668|476/555||,G|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|13/13|c.1271C>G|p.Ser424Cys|1273/1590|1271/1512|424/503||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|13/13|c.1154C>G|p.Ser385Cys|1295/1725|1154/1395|385/464||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|12/12|c.1061C>G|p.Ser354Cys|1154/1584|1061/1302|354/433||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.1154C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.1154C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.1154C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.1154C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.1154C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.1154C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.1061C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.1061C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.1061C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.1061C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.1061C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.1061C>G||||||,G|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|11/11|c.*39C>G|||||39|,G|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*886C>G|||||54040|,G|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*886C>G||||||,G|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|2/2|n.254C>G|||||| 22 45258253 . G A . . ANN=A|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|17/17|c.1710G>A|p.Leu570Leu|1710/2043|1710/1932|570/643||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|17/17|c.1710G>A|p.Leu570Leu|1710/2043|1710/1932|570/643||,A|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|15/15|c.1473G>A|p.Leu491Leu|1715/2013|1473/1695|491/564||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|15/15|c.1446G>A|p.Leu482Leu|1446/1857|1446/1668|482/555||,A|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|13/13|c.1290G>A|p.Leu430Leu|1292/1590|1290/1512|430/503||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|13/13|c.1173G>A|p.Leu391Leu|1314/1725|1173/1395|391/464||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|12/12|c.1080G>A|p.Leu360Leu|1173/1584|1080/1302|360/433||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.1173G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.1173G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.1173G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.1173G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.1173G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.1173G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.1080G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.1080G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.1080G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.1080G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.1080G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.1080G>A||||||,A|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|11/11|c.*58G>A|||||58|,A|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*905G>A|||||54059|,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*905G>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|2/2|n.273G>A|||||| 22 45258265 . G C . . ANN=C|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|17/17|c.1722G>C|p.Val574Val|1722/2043|1722/1932|574/643||,C|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|17/17|c.1722G>C|p.Val574Val|1722/2043|1722/1932|574/643||,C|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|15/15|c.1485G>C|p.Val495Val|1727/2013|1485/1695|495/564||,C|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|15/15|c.1458G>C|p.Val486Val|1458/1857|1458/1668|486/555||,C|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|13/13|c.1302G>C|p.Val434Val|1304/1590|1302/1512|434/503||,C|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|13/13|c.1185G>C|p.Val395Val|1326/1725|1185/1395|395/464||,C|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|12/12|c.1092G>C|p.Val364Val|1185/1584|1092/1302|364/433||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.1185G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.1185G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.1185G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.1185G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.1185G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.1185G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.1092G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.1092G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.1092G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.1092G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.1092G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.1092G>C||||||,C|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|11/11|c.*70G>C|||||70|,C|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*917G>C|||||54071|,C|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*917G>C||||||,C|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|2/2|n.285G>C|||||| 22 45258284 . G C . . ANN=C|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|17/17|c.1741G>C|p.Glu581Gln|1741/2043|1741/1932|581/643||,C|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|17/17|c.1741G>C|p.Glu581Gln|1741/2043|1741/1932|581/643||,C|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|15/15|c.1504G>C|p.Glu502Gln|1746/2013|1504/1695|502/564||,C|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|15/15|c.1477G>C|p.Glu493Gln|1477/1857|1477/1668|493/555||,C|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|13/13|c.1321G>C|p.Glu441Gln|1323/1590|1321/1512|441/503||,C|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|13/13|c.1204G>C|p.Glu402Gln|1345/1725|1204/1395|402/464||,C|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|12/12|c.1111G>C|p.Glu371Gln|1204/1584|1111/1302|371/433||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.1204G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.1204G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.1204G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.1204G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.1204G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.1204G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.1111G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.1111G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.1111G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.1111G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.1111G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.1111G>C||||||,C|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|11/11|c.*89G>C|||||89|,C|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*936G>C|||||54090|,C|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*936G>C||||||,C|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|2/2|n.304G>C|||||| 22 45258295 . C A . . ANN=A|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|17/17|c.1752C>A|p.Ile584Ile|1752/2043|1752/1932|584/643||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|17/17|c.1752C>A|p.Ile584Ile|1752/2043|1752/1932|584/643||,A|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|15/15|c.1515C>A|p.Ile505Ile|1757/2013|1515/1695|505/564||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|15/15|c.1488C>A|p.Ile496Ile|1488/1857|1488/1668|496/555||,A|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|13/13|c.1332C>A|p.Ile444Ile|1334/1590|1332/1512|444/503||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|13/13|c.1215C>A|p.Ile405Ile|1356/1725|1215/1395|405/464||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|12/12|c.1122C>A|p.Ile374Ile|1215/1584|1122/1302|374/433||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.1215C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.1215C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.1215C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.1215C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.1215C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.1215C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.1122C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.1122C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.1122C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.1122C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.1122C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.1122C>A||||||,A|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|11/11|c.*100C>A|||||100|,A|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*947C>A|||||54101|,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*947C>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|2/2|n.315C>A|||||| 22 45258296 . G A . . ANN=A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|17/17|c.1753G>A|p.Glu585Lys|1753/2043|1753/1932|585/643||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|17/17|c.1753G>A|p.Glu585Lys|1753/2043|1753/1932|585/643||,A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|15/15|c.1516G>A|p.Glu506Lys|1758/2013|1516/1695|506/564||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|15/15|c.1489G>A|p.Glu497Lys|1489/1857|1489/1668|497/555||,A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|13/13|c.1333G>A|p.Glu445Lys|1335/1590|1333/1512|445/503||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|13/13|c.1216G>A|p.Glu406Lys|1357/1725|1216/1395|406/464||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|12/12|c.1123G>A|p.Glu375Lys|1216/1584|1123/1302|375/433||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.1216G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.1216G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.1216G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.1216G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.1216G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.1216G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.1123G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.1123G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.1123G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.1123G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.1123G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.1123G>A||||||,A|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|11/11|c.*101G>A|||||101|,A|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*948G>A|||||54102|,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*948G>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|2/2|n.316G>A|||||| 22 45258324 . C T . . ANN=T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|17/17|c.1781C>T|p.Pro594Leu|1781/2043|1781/1932|594/643||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|17/17|c.1781C>T|p.Pro594Leu|1781/2043|1781/1932|594/643||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|15/15|c.1544C>T|p.Pro515Leu|1786/2013|1544/1695|515/564||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|15/15|c.1517C>T|p.Pro506Leu|1517/1857|1517/1668|506/555||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|13/13|c.1361C>T|p.Pro454Leu|1363/1590|1361/1512|454/503||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|13/13|c.1244C>T|p.Pro415Leu|1385/1725|1244/1395|415/464||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|12/12|c.1151C>T|p.Pro384Leu|1244/1584|1151/1302|384/433||,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|11/11|c.*129C>T|||||129|,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*976C>T|||||54130|,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*976C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|2/2|n.344C>T|||||| 22 45258325 . G A . . ANN=A|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|17/17|c.1782G>A|p.Pro594Pro|1782/2043|1782/1932|594/643||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|17/17|c.1782G>A|p.Pro594Pro|1782/2043|1782/1932|594/643||,A|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|15/15|c.1545G>A|p.Pro515Pro|1787/2013|1545/1695|515/564||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|15/15|c.1518G>A|p.Pro506Pro|1518/1857|1518/1668|506/555||,A|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|13/13|c.1362G>A|p.Pro454Pro|1364/1590|1362/1512|454/503||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|13/13|c.1245G>A|p.Pro415Pro|1386/1725|1245/1395|415/464||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|12/12|c.1152G>A|p.Pro384Pro|1245/1584|1152/1302|384/433||,A|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|11/11|c.*130G>A|||||130|,A|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*977G>A|||||54131|,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*977G>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|2/2|n.345G>A|||||| 22 45258333 . C G . . ANN=G|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|17/17|c.1790C>G|p.Pro597Arg|1790/2043|1790/1932|597/643||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|17/17|c.1790C>G|p.Pro597Arg|1790/2043|1790/1932|597/643||,G|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|15/15|c.1553C>G|p.Pro518Arg|1795/2013|1553/1695|518/564||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|15/15|c.1526C>G|p.Pro509Arg|1526/1857|1526/1668|509/555||,G|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|13/13|c.1370C>G|p.Pro457Arg|1372/1590|1370/1512|457/503||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|13/13|c.1253C>G|p.Pro418Arg|1394/1725|1253/1395|418/464||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|12/12|c.1160C>G|p.Pro387Arg|1253/1584|1160/1302|387/433||,G|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|11/11|c.*138C>G|||||138|,G|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*985C>G|||||54139|,G|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*985C>G||||||,G|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|2/2|n.353C>G|||||| 22 45258343 . C T . . ANN=T|splice_region_variant&non_coding_exon_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|2/2|n.363C>T||||||,T|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|17/17|c.1800C>T|p.His600His|1800/2043|1800/1932|600/643||,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|17/17|c.1800C>T|p.His600His|1800/2043|1800/1932|600/643||,T|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|15/15|c.1563C>T|p.His521His|1805/2013|1563/1695|521/564||,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|15/15|c.1536C>T|p.His512His|1536/1857|1536/1668|512/555||,T|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|13/13|c.1380C>T|p.His460His|1382/1590|1380/1512|460/503||,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|13/13|c.1263C>T|p.His421His|1404/1725|1263/1395|421/464||,T|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|12/12|c.1170C>T|p.His390His|1263/1584|1170/1302|390/433||,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|11/11|c.*148C>T|||||148|,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*995C>T|||||54149|,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*995C>T|||||| 22 45258344 . G A . . ANN=A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|17/17|c.1801G>A|p.Gly601Ser|1801/2043|1801/1932|601/643||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|17/17|c.1801G>A|p.Gly601Ser|1801/2043|1801/1932|601/643||,A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|15/15|c.1564G>A|p.Gly522Ser|1806/2013|1564/1695|522/564||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|15/15|c.1537G>A|p.Gly513Ser|1537/1857|1537/1668|513/555||,A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|13/13|c.1381G>A|p.Gly461Ser|1383/1590|1381/1512|461/503||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|13/13|c.1264G>A|p.Gly422Ser|1405/1725|1264/1395|422/464||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|12/12|c.1171G>A|p.Gly391Ser|1264/1584|1171/1302|391/433||,A|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|11/11|c.*149G>A|||||149|,A|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*996G>A|||||54150|,A|downstream_gene_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron||n.*363G>A|||||1|,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*996G>A|||||| 22 45258349 . G A . . ANN=A|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|17/17|c.1806G>A|p.Leu602Leu|1806/2043|1806/1932|602/643||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|17/17|c.1806G>A|p.Leu602Leu|1806/2043|1806/1932|602/643||,A|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|15/15|c.1569G>A|p.Leu523Leu|1811/2013|1569/1695|523/564||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|15/15|c.1542G>A|p.Leu514Leu|1542/1857|1542/1668|514/555||,A|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|13/13|c.1386G>A|p.Leu462Leu|1388/1590|1386/1512|462/503||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|13/13|c.1269G>A|p.Leu423Leu|1410/1725|1269/1395|423/464||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|12/12|c.1176G>A|p.Leu392Leu|1269/1584|1176/1302|392/433||,A|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|11/11|c.*154G>A|||||154|,A|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*1001G>A|||||54155|,A|downstream_gene_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron||n.*363G>A|||||6|,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*1001G>A|||||| 22 45258361 . ACAGGGGAG A . . ANN=|frameshift_variant|HIGH|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|17/17|c.1824_1831delGAGCAGGG|p.Gly608fs|1824/2043|1824/1932|608/643||INFO_REALIGN_3_PRIME,|frameshift_variant|HIGH|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|17/17|c.1824_1831delGAGCAGGG|p.Gly608fs|1824/2043|1824/1932|608/643||INFO_REALIGN_3_PRIME,|frameshift_variant|HIGH|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|15/15|c.1587_1594delGAGCAGGG|p.Gly529fs|1829/2013|1587/1695|529/564||INFO_REALIGN_3_PRIME,|frameshift_variant|HIGH|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|15/15|c.1560_1567delGAGCAGGG|p.Gly520fs|1560/1857|1560/1668|520/555||INFO_REALIGN_3_PRIME,|frameshift_variant|HIGH|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|13/13|c.1404_1411delGAGCAGGG|p.Gly468fs|1406/1590|1404/1512|468/503||INFO_REALIGN_3_PRIME,|frameshift_variant|HIGH|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|13/13|c.1287_1294delGAGCAGGG|p.Gly429fs|1428/1725|1287/1395|429/464||INFO_REALIGN_3_PRIME,|frameshift_variant|HIGH|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|12/12|c.1194_1201delGAGCAGGG|p.Gly398fs|1287/1584|1194/1302|398/433||INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|11/11|c.*172_*179delGAGCAGGG|||||172|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*1019_*1026delGAGCAGGG|||||54173|INFO_REALIGN_3_PRIME,|downstream_gene_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron||n.*363_*363delCAGGGGAG|||||19|,|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*1019_*1026delGAGCAGGG||||||INFO_REALIGN_3_PRIME;LOF=(ARHGAP8|ENSG00000241484|14|0.29),(PRR5-ARHGAP8|ENSG00000248405|4|0.75) 22 45258373 . G C . . ANN=C|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|17/17|c.1830G>C|p.Arg610Ser|1830/2043|1830/1932|610/643||,C|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|17/17|c.1830G>C|p.Arg610Ser|1830/2043|1830/1932|610/643||,C|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|15/15|c.1593G>C|p.Arg531Ser|1835/2013|1593/1695|531/564||,C|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|15/15|c.1566G>C|p.Arg522Ser|1566/1857|1566/1668|522/555||,C|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|13/13|c.1410G>C|p.Arg470Ser|1412/1590|1410/1512|470/503||,C|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|13/13|c.1293G>C|p.Arg431Ser|1434/1725|1293/1395|431/464||,C|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|12/12|c.1200G>C|p.Arg400Ser|1293/1584|1200/1302|400/433||,C|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|11/11|c.*178G>C|||||178|,C|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*1025G>C|||||54179|,C|downstream_gene_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron||n.*363G>C|||||30|,C|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*1025G>C|||||| 22 45258401 . C T . . ANN=T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|17/17|c.1858C>T|p.Arg620Trp|1858/2043|1858/1932|620/643||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|17/17|c.1858C>T|p.Arg620Trp|1858/2043|1858/1932|620/643||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|15/15|c.1621C>T|p.Arg541Trp|1863/2013|1621/1695|541/564||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|15/15|c.1594C>T|p.Arg532Trp|1594/1857|1594/1668|532/555||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|13/13|c.1438C>T|p.Arg480Trp|1440/1590|1438/1512|480/503||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|13/13|c.1321C>T|p.Arg441Trp|1462/1725|1321/1395|441/464||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|12/12|c.1228C>T|p.Arg410Trp|1321/1584|1228/1302|410/433||,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|11/11|c.*206C>T|||||206|,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*1053C>T|||||54207|,T|downstream_gene_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron||n.*363C>T|||||58|,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*1053C>T|||||| 22 45258402 . G A . . ANN=A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|17/17|c.1859G>A|p.Arg620Gln|1859/2043|1859/1932|620/643||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|17/17|c.1859G>A|p.Arg620Gln|1859/2043|1859/1932|620/643||,A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|15/15|c.1622G>A|p.Arg541Gln|1864/2013|1622/1695|541/564||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|15/15|c.1595G>A|p.Arg532Gln|1595/1857|1595/1668|532/555||,A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|13/13|c.1439G>A|p.Arg480Gln|1441/1590|1439/1512|480/503||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|13/13|c.1322G>A|p.Arg441Gln|1463/1725|1322/1395|441/464||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|12/12|c.1229G>A|p.Arg410Gln|1322/1584|1229/1302|410/433||,A|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|11/11|c.*207G>A|||||207|,A|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*1054G>A|||||54208|,A|downstream_gene_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron||n.*363G>A|||||59|,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*1054G>A|||||| 22 45258414 . C T . . ANN=T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|17/17|c.1871C>T|p.Thr624Met|1871/2043|1871/1932|624/643||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|17/17|c.1871C>T|p.Thr624Met|1871/2043|1871/1932|624/643||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|15/15|c.1634C>T|p.Thr545Met|1876/2013|1634/1695|545/564||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|15/15|c.1607C>T|p.Thr536Met|1607/1857|1607/1668|536/555||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|13/13|c.1451C>T|p.Thr484Met|1453/1590|1451/1512|484/503||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|13/13|c.1334C>T|p.Thr445Met|1475/1725|1334/1395|445/464||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|12/12|c.1241C>T|p.Thr414Met|1334/1584|1241/1302|414/433||,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|11/11|c.*219C>T|||||219|,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*1066C>T|||||54220|,T|downstream_gene_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron||n.*363C>T|||||71|,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*1066C>T|||||| 22 45258427 . G T . . ANN=T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|17/17|c.1884G>T|p.Lys628Asn|1884/2043|1884/1932|628/643||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|17/17|c.1884G>T|p.Lys628Asn|1884/2043|1884/1932|628/643||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|15/15|c.1647G>T|p.Lys549Asn|1889/2013|1647/1695|549/564||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|15/15|c.1620G>T|p.Lys540Asn|1620/1857|1620/1668|540/555||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|13/13|c.1464G>T|p.Lys488Asn|1466/1590|1464/1512|488/503||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|13/13|c.1347G>T|p.Lys449Asn|1488/1725|1347/1395|449/464||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|12/12|c.1254G>T|p.Lys418Asn|1347/1584|1254/1302|418/433||,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|11/11|c.*232G>T|||||232|,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*1079G>T|||||54233|,T|downstream_gene_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron||n.*363G>T|||||84|,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*1079G>T|||||| 22 45258457 . A G . . ANN=G|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|17/17|c.1914A>G|p.Ala638Ala|1914/2043|1914/1932|638/643||,G|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|17/17|c.1914A>G|p.Ala638Ala|1914/2043|1914/1932|638/643||,G|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|15/15|c.1677A>G|p.Ala559Ala|1919/2013|1677/1695|559/564||,G|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|15/15|c.1650A>G|p.Ala550Ala|1650/1857|1650/1668|550/555||,G|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|13/13|c.1494A>G|p.Ala498Ala|1496/1590|1494/1512|498/503||,G|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|13/13|c.1377A>G|p.Ala459Ala|1518/1725|1377/1395|459/464||,G|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|12/12|c.1284A>G|p.Ala428Ala|1377/1584|1284/1302|428/433||,G|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|11/11|c.*262A>G|||||262|,G|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*1109A>G|||||54263|,G|downstream_gene_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron||n.*363A>G|||||114|,G|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*1109A>G|||||| 22 45258481 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|17/17|c.*6C>T|||||6|,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|17/17|c.*6C>T|||||6|,T|3_prime_UTR_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|15/15|c.*6C>T|||||6|,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|15/15|c.*6C>T|||||6|,T|3_prime_UTR_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|13/13|c.*6C>T|||||6|,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|13/13|c.*6C>T|||||6|,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|11/11|c.*286C>T|||||286|,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|12/12|c.*6C>T|||||6|,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*1133C>T|||||54287|,T|downstream_gene_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron||n.*363C>T|||||138|,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*1133C>T|||||| 22 45258486 . ACT A . . ANN=|3_prime_UTR_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|17/17|c.*14_*15delCT|||||14|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|17/17|c.*14_*15delCT|||||14|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|15/15|c.*14_*15delCT|||||14|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|15/15|c.*14_*15delCT|||||14|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|13/13|c.*14_*15delCT|||||14|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|13/13|c.*14_*15delCT|||||14|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|11/11|c.*294_*295delCT|||||294|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|12/12|c.*14_*15delCT|||||14|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*1141_*1142delCT|||||54295|INFO_REALIGN_3_PRIME,|downstream_gene_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron||n.*363_*363delCT|||||144|,|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*1141_*1142delCT||||||INFO_REALIGN_3_PRIME 22 45258489 . CTG C . . ANN=|3_prime_UTR_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|17/17|c.*16_*17delGT|||||16|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|17/17|c.*16_*17delGT|||||16|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|15/15|c.*16_*17delGT|||||16|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|15/15|c.*16_*17delGT|||||16|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|13/13|c.*16_*17delGT|||||16|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|13/13|c.*16_*17delGT|||||16|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|11/11|c.*296_*297delGT|||||296|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|12/12|c.*16_*17delGT|||||16|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*1143_*1144delGT|||||54297|INFO_REALIGN_3_PRIME,|downstream_gene_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron||n.*363_*363delTG|||||147|,|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*1143_*1144delGT||||||INFO_REALIGN_3_PRIME 22 45258491 . GTATA G . . ANN=|3_prime_UTR_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|17/17|c.*18_*21delATAT|||||18|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|17/17|c.*18_*21delATAT|||||18|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|15/15|c.*18_*21delATAT|||||18|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|15/15|c.*18_*21delATAT|||||18|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|13/13|c.*18_*21delATAT|||||18|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|13/13|c.*18_*21delATAT|||||18|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|11/11|c.*298_*301delATAT|||||298|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|12/12|c.*18_*21delATAT|||||18|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*1145_*1148delATAT|||||54299|INFO_REALIGN_3_PRIME,|downstream_gene_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron||n.*363_*363delTATA|||||149|,|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*1145_*1148delATAT||||||INFO_REALIGN_3_PRIME 22 45258511 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|17/17|c.*36C>T|||||36|,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|17/17|c.*36C>T|||||36|,T|3_prime_UTR_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|15/15|c.*36C>T|||||36|,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|15/15|c.*36C>T|||||36|,T|3_prime_UTR_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|13/13|c.*36C>T|||||36|,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|13/13|c.*36C>T|||||36|,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|11/11|c.*316C>T|||||316|,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|12/12|c.*36C>T|||||36|,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*1163C>T|||||54317|,T|downstream_gene_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron||n.*363C>T|||||168|,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*1163C>T|||||| 22 45258513 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|17/17|c.*38C>T|||||38|,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|17/17|c.*38C>T|||||38|,T|3_prime_UTR_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|15/15|c.*38C>T|||||38|,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|15/15|c.*38C>T|||||38|,T|3_prime_UTR_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|13/13|c.*38C>T|||||38|,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|13/13|c.*38C>T|||||38|,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|11/11|c.*318C>T|||||318|,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|12/12|c.*38C>T|||||38|,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*1165C>T|||||54319|,T|downstream_gene_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron||n.*363C>T|||||170|,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*1165C>T|||||| 22 45258516 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|17/17|c.*41C>T|||||41|,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|17/17|c.*41C>T|||||41|,T|3_prime_UTR_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|15/15|c.*41C>T|||||41|,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|15/15|c.*41C>T|||||41|,T|3_prime_UTR_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|13/13|c.*41C>T|||||41|,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|13/13|c.*41C>T|||||41|,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|11/11|c.*321C>T|||||321|,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|12/12|c.*41C>T|||||41|,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*1168C>T|||||54322|,T|downstream_gene_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron||n.*363C>T|||||173|,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*1168C>T|||||| 22 45278938 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|13/13|c.*28G>A|||||28|,T|3_prime_UTR_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|14/14|c.*28G>A|||||28|,T|3_prime_UTR_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|13/13|c.*28G>A|||||28|,T|3_prime_UTR_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding|13/13|c.*28G>A|||||28|,T|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding||c.*1011G>A|||||4986| 22 45278963 . G C . . ANN=C|3_prime_UTR_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|13/13|c.*3C>G|||||3|,C|3_prime_UTR_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|14/14|c.*3C>G|||||3|,C|3_prime_UTR_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|13/13|c.*3C>G|||||3|,C|3_prime_UTR_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding|13/13|c.*3C>G|||||3|,C|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding||c.*1011C>G|||||4961| 22 45279003 . G A . . ANN=A|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|13/13|c.1559C>T|p.Thr520Ile|1710/3671|1559/1596|520/531||,A|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|14/14|c.947C>T|p.Thr316Ile|1625/3586|947/984|316/327||,A|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|13/13|c.1433C>T|p.Thr478Ile|1502/3460|1433/1470|478/489||,A|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding|13/13|c.1397C>T|p.Thr466Ile|1572/1814|1397/1434|466/477||,A|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding||c.*1011C>T|||||4921| 22 45279034 . C T . . ANN=T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|13/13|c.1528G>A|p.Gly510Arg|1679/3671|1528/1596|510/531||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|14/14|c.916G>A|p.Gly306Arg|1594/3586|916/984|306/327||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|13/13|c.1402G>A|p.Gly468Arg|1471/3460|1402/1470|468/489||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding|13/13|c.1366G>A|p.Gly456Arg|1541/1814|1366/1434|456/477||,T|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding||c.*1011G>A|||||4890| 22 45279119 . G A . . ANN=A|synonymous_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|13/13|c.1443C>T|p.Arg481Arg|1594/3671|1443/1596|481/531||,A|synonymous_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|14/14|c.831C>T|p.Arg277Arg|1509/3586|831/984|277/327||,A|synonymous_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|13/13|c.1317C>T|p.Arg439Arg|1386/3460|1317/1470|439/489||,A|synonymous_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding|13/13|c.1281C>T|p.Arg427Arg|1456/1814|1281/1434|427/477||,A|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding||c.*1011C>T|||||4805| 22 45279176 . C T . . ANN=T|synonymous_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|13/13|c.1386G>A|p.Leu462Leu|1537/3671|1386/1596|462/531||,T|synonymous_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|14/14|c.774G>A|p.Leu258Leu|1452/3586|774/984|258/327||,T|synonymous_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|13/13|c.1260G>A|p.Leu420Leu|1329/3460|1260/1470|420/489||,T|synonymous_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding|13/13|c.1224G>A|p.Leu408Leu|1399/1814|1224/1434|408/477||,T|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000313237|protein_coding|11/13|c.1386G>A||||||,T|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000313237|protein_coding|13/13|c.1386G>A||||||,T|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000313237|protein_coding|12/13|c.1386G>A||||||,T|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000396103|protein_coding|11/13|c.1260G>A||||||,T|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000396103|protein_coding|12/13|c.1260G>A||||||,T|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000396103|protein_coding|13/13|c.1260G>A||||||,T|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000404079|protein_coding|11/13|c.1224G>A||||||,T|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000404079|protein_coding|12/13|c.1224G>A||||||,T|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000404079|protein_coding|13/13|c.1224G>A||||||,T|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding||c.*1011G>A|||||4748| 22 45279192 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|12/12|c.1378-8C>T||||||,A|splice_region_variant&intron_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|13/13|c.766-8C>T||||||,A|splice_region_variant&intron_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|12/12|c.1252-8C>T||||||,A|splice_region_variant&intron_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding|12/12|c.1216-8C>T||||||,A|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000313237|protein_coding|11/13|c.1378-8C>T||||||,A|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000313237|protein_coding|13/13|c.1378-8C>T||||||,A|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000313237|protein_coding|12/13|c.1378-8C>T||||||,A|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000396103|protein_coding|11/13|c.1252-8C>T||||||,A|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000396103|protein_coding|12/13|c.1252-8C>T||||||,A|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000396103|protein_coding|13/13|c.1252-8C>T||||||,A|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000404079|protein_coding|11/13|c.1216-8C>T||||||,A|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000404079|protein_coding|12/13|c.1216-8C>T||||||,A|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000404079|protein_coding|13/13|c.1216-8C>T||||||,A|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding||c.*1011C>T|||||4732| 22 45279222 . T G . . ANN=G|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000313237|protein_coding|11/13|c.1378-38A>C||||||,G|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000313237|protein_coding|13/13|c.1378-38A>C||||||,G|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000313237|protein_coding|12/13|c.1378-38A>C||||||,G|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000396103|protein_coding|11/13|c.1252-38A>C||||||,G|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000396103|protein_coding|12/13|c.1252-38A>C||||||,G|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000396103|protein_coding|13/13|c.1252-38A>C||||||,G|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000404079|protein_coding|11/13|c.1216-38A>C||||||,G|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000404079|protein_coding|12/13|c.1216-38A>C||||||,G|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000404079|protein_coding|13/13|c.1216-38A>C||||||,G|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding||c.*1011A>C|||||4702|,G|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|12/12|c.1378-38A>C||||||,G|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|13/13|c.766-38A>C||||||,G|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|12/12|c.1252-38A>C||||||,G|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding|12/12|c.1216-38A>C|||||| 22 45279223 . C T . . ANN=T|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000313237|protein_coding|11/13|c.1378-39G>A||||||,T|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000313237|protein_coding|13/13|c.1378-39G>A||||||,T|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000313237|protein_coding|12/13|c.1378-39G>A||||||,T|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000396103|protein_coding|11/13|c.1252-39G>A||||||,T|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000396103|protein_coding|12/13|c.1252-39G>A||||||,T|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000396103|protein_coding|13/13|c.1252-39G>A||||||,T|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000404079|protein_coding|11/13|c.1216-39G>A||||||,T|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000404079|protein_coding|12/13|c.1216-39G>A||||||,T|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000404079|protein_coding|13/13|c.1216-39G>A||||||,T|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding||c.*1011G>A|||||4701|,T|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|12/12|c.1378-39G>A||||||,T|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|13/13|c.766-39G>A||||||,T|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|12/12|c.1252-39G>A||||||,T|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding|12/12|c.1216-39G>A|||||| 22 45279224 . G A . . ANN=A|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000313237|protein_coding|11/13|c.1378-40C>T||||||,A|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000313237|protein_coding|13/13|c.1378-40C>T||||||,A|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000313237|protein_coding|12/13|c.1378-40C>T||||||,A|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000396103|protein_coding|11/13|c.1252-40C>T||||||,A|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000396103|protein_coding|12/13|c.1252-40C>T||||||,A|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000396103|protein_coding|13/13|c.1252-40C>T||||||,A|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000404079|protein_coding|11/13|c.1216-40C>T||||||,A|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000404079|protein_coding|12/13|c.1216-40C>T||||||,A|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000404079|protein_coding|13/13|c.1216-40C>T||||||,A|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding||c.*1011C>T|||||4700|,A|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|12/12|c.1378-40C>T||||||,A|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|13/13|c.766-40C>T||||||,A|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|12/12|c.1252-40C>T||||||,A|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding|12/12|c.1216-40C>T|||||| 22 45281269 . G A . . ANN=A|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000313237|protein_coding|11/13|c.1377+37C>T||||||,A|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000313237|protein_coding|13/13|c.1377+37C>T||||||,A|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000313237|protein_coding|12/13|c.1377+37C>T||||||,A|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000396103|protein_coding|11/13|c.1251+37C>T||||||,A|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000396103|protein_coding|12/13|c.1251+37C>T||||||,A|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000396103|protein_coding|13/13|c.1251+37C>T||||||,A|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000404079|protein_coding|11/13|c.1215+37C>T||||||,A|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000404079|protein_coding|12/13|c.1215+37C>T||||||,A|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000404079|protein_coding|13/13|c.1215+37C>T||||||,A|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding||c.*1011C>T|||||2655|,A|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000414269|protein_coding||c.*557C>T|||||4384|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|12/12|c.1377+37C>T||||||,A|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|13/13|c.765+37C>T||||||,A|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|12/12|c.1251+37C>T||||||,A|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding|12/12|c.1215+37C>T|||||| 22 45281696 . G A . . ANN=A|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000313237|protein_coding|11/13|c.1273+47C>T||||||,A|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000313237|protein_coding|13/13|c.1273+47C>T||||||,A|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000313237|protein_coding|12/13|c.1273+47C>T||||||,A|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000396103|protein_coding|11/13|c.1147+47C>T||||||,A|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000396103|protein_coding|12/13|c.1147+47C>T||||||,A|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000396103|protein_coding|13/13|c.1147+47C>T||||||,A|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000404079|protein_coding|11/13|c.1111+47C>T||||||,A|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000404079|protein_coding|12/13|c.1111+47C>T||||||,A|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000404079|protein_coding|13/13|c.1111+47C>T||||||,A|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding||c.*1011C>T|||||2228|,A|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000414269|protein_coding||c.*557C>T|||||3957|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|11/12|c.1273+47C>T||||||,A|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|12/13|c.661+47C>T||||||,A|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|11/12|c.1147+47C>T||||||,A|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding|11/12|c.1111+47C>T|||||| 22 45281715 . C G . . ANN=G|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000313237|protein_coding|11/13|c.1273+28G>C||||||,G|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000313237|protein_coding|13/13|c.1273+28G>C||||||,G|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000313237|protein_coding|12/13|c.1273+28G>C||||||,G|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000396103|protein_coding|11/13|c.1147+28G>C||||||,G|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000396103|protein_coding|12/13|c.1147+28G>C||||||,G|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000396103|protein_coding|13/13|c.1147+28G>C||||||,G|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000404079|protein_coding|11/13|c.1111+28G>C||||||,G|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000404079|protein_coding|12/13|c.1111+28G>C||||||,G|sequence_feature|LOW|PHF21B|ENSG00000056487|coiled-coil_region|ENST00000404079|protein_coding|13/13|c.1111+28G>C||||||,G|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding||c.*1011G>C|||||2209|,G|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000414269|protein_coding||c.*557G>C|||||3938|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|11/12|c.1273+28G>C||||||,G|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|12/13|c.661+28G>C||||||,G|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|11/12|c.1147+28G>C||||||,G|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding|11/12|c.1111+28G>C|||||| 22 45283897 . C T . . ANN=T|synonymous_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|10/13|c.1143G>A|p.Pro381Pro|1294/3671|1143/1596|381/531||,T|synonymous_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|11/14|c.531G>A|p.Pro177Pro|1209/3586|531/984|177/327||,T|synonymous_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|10/13|c.1017G>A|p.Pro339Pro|1086/3460|1017/1470|339/489||,T|synonymous_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding|10/13|c.981G>A|p.Pro327Pro|1156/1814|981/1434|327/477||,T|sequence_feature|LOW|PHF21B|ENSG00000056487|zinc_finger_region:PHD-type|ENST00000313237|protein_coding|10/13|c.1143G>A||||||,T|sequence_feature|LOW|PHF21B|ENSG00000056487|zinc_finger_region:PHD-type|ENST00000396103|protein_coding|10/13|c.1017G>A||||||,T|sequence_feature|LOW|PHF21B|ENSG00000056487|zinc_finger_region:PHD-type|ENST00000404079|protein_coding|10/13|c.981G>A||||||,T|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding||c.*1011G>A|||||27|,T|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000414269|protein_coding||c.*557G>A|||||1756|WARNING_TRANSCRIPT_INCOMPLETE 22 45283971 . C T . . ANN=T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|10/13|c.1069G>A|p.Ala357Thr|1220/3671|1069/1596|357/531||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|11/14|c.457G>A|p.Ala153Thr|1135/3586|457/984|153/327||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|10/13|c.943G>A|p.Ala315Thr|1012/3460|943/1470|315/489||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding|10/13|c.907G>A|p.Ala303Thr|1082/1814|907/1434|303/477||,T|sequence_feature|LOW|PHF21B|ENSG00000056487|zinc_finger_region:PHD-type|ENST00000313237|protein_coding|10/13|c.1069G>A||||||,T|sequence_feature|LOW|PHF21B|ENSG00000056487|zinc_finger_region:PHD-type|ENST00000396103|protein_coding|10/13|c.943G>A||||||,T|sequence_feature|LOW|PHF21B|ENSG00000056487|zinc_finger_region:PHD-type|ENST00000404079|protein_coding|10/13|c.907G>A||||||,T|3_prime_UTR_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding|9/9|c.*11G>A|||||11|,T|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000414269|protein_coding||c.*557G>A|||||1682|WARNING_TRANSCRIPT_INCOMPLETE 22 45283999 . G A . . ANN=A|stop_gained&splice_region_variant|HIGH|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding|9/9|c.856C>T|p.Arg286*|994/1069|856/873|286/290||,A|splice_region_variant&synonymous_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|10/13|c.1041C>T|p.Asn347Asn|1192/3671|1041/1596|347/531||,A|splice_region_variant&synonymous_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|11/14|c.429C>T|p.Asn143Asn|1107/3586|429/984|143/327||,A|splice_region_variant&synonymous_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|10/13|c.915C>T|p.Asn305Asn|984/3460|915/1470|305/489||,A|splice_region_variant&synonymous_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding|10/13|c.879C>T|p.Asn293Asn|1054/1814|879/1434|293/477||,A|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000414269|protein_coding||c.*557C>T|||||1654|WARNING_TRANSCRIPT_INCOMPLETE 22 45285621 . G A . . ANN=A|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000414269|protein_coding||c.*557C>T|||||32|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|9/12|c.1038+19C>T||||||,A|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|10/13|c.426+19C>T||||||,A|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|9/12|c.912+19C>T||||||,A|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding|9/12|c.876+19C>T||||||,A|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding|8/8|c.853+1565C>T|||||| 22 45287218 . T C . . ANN=C|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|8/13|c.983A>G|p.Tyr328Cys|1134/3671|983/1596|328/531||,C|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|9/14|c.371A>G|p.Tyr124Cys|1049/3586|371/984|124/327||,C|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|8/13|c.857A>G|p.Tyr286Cys|926/3460|857/1470|286/489||,C|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding|8/13|c.821A>G|p.Tyr274Cys|996/1814|821/1434|274/477||,C|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding|8/9|c.821A>G|p.Tyr274Cys|959/1069|821/873|274/290||,C|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000414269|protein_coding|6/7|c.371A>G|p.Tyr124Cys|515/557|371/413|124/136||WARNING_TRANSCRIPT_INCOMPLETE 22 45289325 . C T . . ANN=T|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|7/12|c.960+12G>A||||||,T|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|8/13|c.348+12G>A||||||,T|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|7/12|c.834+12G>A||||||,T|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding|7/12|c.798+12G>A||||||,T|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding|7/8|c.798+12G>A||||||,T|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000414269|protein_coding|5/6|c.348+12G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 45291943 . C A . . ANN=A|synonymous_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|6/13|c.852G>T|p.Ala284Ala|1003/3671|852/1596|284/531||,A|synonymous_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|7/14|c.240G>T|p.Ala80Ala|918/3586|240/984|80/327||,A|synonymous_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|6/13|c.726G>T|p.Ala242Ala|795/3460|726/1470|242/489||,A|synonymous_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding|6/13|c.690G>T|p.Ala230Ala|865/1814|690/1434|230/477||,A|synonymous_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding|6/9|c.690G>T|p.Ala230Ala|828/1069|690/873|230/290||,A|synonymous_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000414269|protein_coding|4/7|c.240G>T|p.Ala80Ala|384/557|240/413|80/136||WARNING_TRANSCRIPT_INCOMPLETE 22 45291948 . C T . . ANN=T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|6/13|c.847G>A|p.Val283Ile|998/3671|847/1596|283/531||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|7/14|c.235G>A|p.Val79Ile|913/3586|235/984|79/327||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|6/13|c.721G>A|p.Val241Ile|790/3460|721/1470|241/489||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding|6/13|c.685G>A|p.Val229Ile|860/1814|685/1434|229/477||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding|6/9|c.685G>A|p.Val229Ile|823/1069|685/873|229/290||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000414269|protein_coding|4/7|c.235G>A|p.Val79Ile|379/557|235/413|79/136||WARNING_TRANSCRIPT_INCOMPLETE 22 45291975 . AACAG A . . ANN=|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|5/12|c.832-16_832-13delCTGT||||||,|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|6/13|c.220-16_220-13delCTGT||||||,|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|5/12|c.706-16_706-13delCTGT||||||,|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding|5/12|c.670-16_670-13delCTGT||||||,|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding|5/8|c.670-16_670-13delCTGT||||||,|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000414269|protein_coding|3/6|c.220-16_220-13delCTGT||||||WARNING_TRANSCRIPT_INCOMPLETE 22 45309653 . C T . . ANN=T|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000420689|protein_coding||c.*750G>A|||||143|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000490679|processed_transcript||n.*553G>A|||||2548|,T|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000460507|processed_transcript||n.*508G>A|||||2682|,T|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000474327|processed_transcript||n.*338G>A|||||2822|,T|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|5/12|c.831+49G>A||||||,T|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|6/13|c.219+49G>A||||||,T|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|5/12|c.705+49G>A||||||,T|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding|5/12|c.669+49G>A||||||,T|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding|5/8|c.669+49G>A||||||,T|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000414269|protein_coding|3/6|c.219+49G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 45309673 . C T . . ANN=T|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000420689|protein_coding||c.*750G>A|||||123|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000490679|processed_transcript||n.*553G>A|||||2528|,T|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000460507|processed_transcript||n.*508G>A|||||2662|,T|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000474327|processed_transcript||n.*338G>A|||||2802|,T|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|5/12|c.831+29G>A||||||,T|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|6/13|c.219+29G>A||||||,T|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|5/12|c.705+29G>A||||||,T|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding|5/12|c.669+29G>A||||||,T|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding|5/8|c.669+29G>A||||||,T|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000414269|protein_coding|3/6|c.219+29G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 45309680 . C T . . ANN=T|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000420689|protein_coding||c.*750G>A|||||116|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000490679|processed_transcript||n.*553G>A|||||2521|,T|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000460507|processed_transcript||n.*508G>A|||||2655|,T|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000474327|processed_transcript||n.*338G>A|||||2795|,T|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|5/12|c.831+22G>A||||||,T|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|6/13|c.219+22G>A||||||,T|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|5/12|c.705+22G>A||||||,T|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding|5/12|c.669+22G>A||||||,T|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding|5/8|c.669+22G>A||||||,T|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000414269|protein_coding|3/6|c.219+22G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 45309685 . G A . . ANN=A|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000420689|protein_coding||c.*750C>T|||||111|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000490679|processed_transcript||n.*553C>T|||||2516|,A|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000460507|processed_transcript||n.*508C>T|||||2650|,A|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000474327|processed_transcript||n.*338C>T|||||2790|,A|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|5/12|c.831+17C>T||||||,A|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|6/13|c.219+17C>T||||||,A|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|5/12|c.705+17C>T||||||,A|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding|5/12|c.669+17C>T||||||,A|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding|5/8|c.669+17C>T||||||,A|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000414269|protein_coding|3/6|c.219+17C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 45309727 . C T . . ANN=T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|5/13|c.806G>A|p.Arg269Gln|957/3671|806/1596|269/531||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|6/14|c.194G>A|p.Arg65Gln|872/3586|194/984|65/327||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|5/13|c.680G>A|p.Arg227Gln|749/3460|680/1470|227/489||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding|5/13|c.644G>A|p.Arg215Gln|819/1814|644/1434|215/477||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding|5/9|c.644G>A|p.Arg215Gln|782/1069|644/873|215/290||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000414269|protein_coding|3/7|c.194G>A|p.Arg65Gln|338/557|194/413|65/136||WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000420689|protein_coding||c.*750G>A|||||69|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000490679|processed_transcript||n.*553G>A|||||2474|,T|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000460507|processed_transcript||n.*508G>A|||||2608|,T|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000474327|processed_transcript||n.*338G>A|||||2748| 22 45309851 . T C . . ANN=C|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|5/13|c.682A>G|p.Ile228Val|833/3671|682/1596|228/531||,C|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000490679|processed_transcript||n.*553A>G|||||2350|,C|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000460507|processed_transcript||n.*508A>G|||||2484|,C|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000474327|processed_transcript||n.*338A>G|||||2624|,C|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|5/13|c.79-9A>G||||||,C|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|4/12|c.565-9A>G||||||,C|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding|4/12|c.529-9A>G||||||,C|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding|4/8|c.529-9A>G||||||,C|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000414269|protein_coding|2/6|c.79-9A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000420689|protein_coding|4/4|c.529-9A>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 45309892 . G C . . ANN=C|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|5/13|c.641C>G|p.Thr214Ser|792/3671|641/1596|214/531||,C|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000490679|processed_transcript||n.*553C>G|||||2309|,C|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000460507|processed_transcript||n.*508C>G|||||2443|,C|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000474327|processed_transcript||n.*338C>G|||||2583|,C|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|5/13|c.79-50C>G||||||,C|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|4/12|c.565-50C>G||||||,C|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding|4/12|c.529-50C>G||||||,C|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding|4/8|c.529-50C>G||||||,C|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000414269|protein_coding|2/6|c.79-50C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000420689|protein_coding|4/4|c.529-50C>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 45312113 . T C . . ANN=C|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000490679|processed_transcript||n.*553A>G|||||88|,C|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000460507|processed_transcript||n.*508A>G|||||222|,C|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000474327|processed_transcript||n.*338A>G|||||362|,C|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|4/12|c.564+47A>G||||||,C|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|5/13|c.78+47A>G||||||,C|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|4/12|c.564+47A>G||||||,C|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding|4/12|c.528+47A>G||||||,C|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding|4/8|c.528+47A>G||||||,C|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000414269|protein_coding|2/6|c.78+47A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000420689|protein_coding|4/4|c.528+47A>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 45312124 . G A . . ANN=A|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000490679|processed_transcript||n.*553C>T|||||77|,A|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000460507|processed_transcript||n.*508C>T|||||211|,A|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000474327|processed_transcript||n.*338C>T|||||351|,A|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|4/12|c.564+36C>T||||||,A|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|5/13|c.78+36C>T||||||,A|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|4/12|c.564+36C>T||||||,A|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding|4/12|c.528+36C>T||||||,A|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding|4/8|c.528+36C>T||||||,A|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000414269|protein_coding|2/6|c.78+36C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000420689|protein_coding|4/4|c.528+36C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 45312244 . G A . . ANN=A|synonymous_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|4/13|c.480C>T|p.Ala160Ala|631/3671|480/1596|160/531||,A|synonymous_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|4/13|c.480C>T|p.Ala160Ala|549/3460|480/1470|160/489||,A|synonymous_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding|4/13|c.444C>T|p.Ala148Ala|619/1814|444/1434|148/477||,A|synonymous_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding|4/9|c.444C>T|p.Ala148Ala|582/1069|444/873|148/290||,A|synonymous_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000420689|protein_coding|4/5|c.444C>T|p.Ala148Ala|619/750|444/575|148/190||WARNING_TRANSCRIPT_INCOMPLETE,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|5/14|c.-7C>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000414269|protein_coding|2/7|c.-7C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|5_prime_UTR_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|5/14|c.-7C>T|||||7|,A|5_prime_UTR_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000414269|protein_coding|2/7|c.-7C>T|||||7|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000460507|processed_transcript||n.*508C>T|||||91|,A|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000474327|processed_transcript||n.*338C>T|||||231|,A|non_coding_exon_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000490679|processed_transcript|4/4|n.510C>T|||||| 22 45312245 . G A . . ANN=A|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|4/13|c.479C>T|p.Ala160Val|630/3671|479/1596|160/531||,A|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|4/13|c.479C>T|p.Ala160Val|548/3460|479/1470|160/489||,A|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding|4/13|c.443C>T|p.Ala148Val|618/1814|443/1434|148/477||,A|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding|4/9|c.443C>T|p.Ala148Val|581/1069|443/873|148/290||,A|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000420689|protein_coding|4/5|c.443C>T|p.Ala148Val|618/750|443/575|148/190||WARNING_TRANSCRIPT_INCOMPLETE,A|5_prime_UTR_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|5/14|c.-8C>T|||||8|,A|5_prime_UTR_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000414269|protein_coding|2/7|c.-8C>T|||||8|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000460507|processed_transcript||n.*508C>T|||||90|,A|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000474327|processed_transcript||n.*338C>T|||||230|,A|non_coding_exon_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000490679|processed_transcript|4/4|n.509C>T|||||| 22 45312274 . G A . . ANN=A|synonymous_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|4/13|c.450C>T|p.Tyr150Tyr|601/3671|450/1596|150/531||,A|synonymous_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|4/13|c.450C>T|p.Tyr150Tyr|519/3460|450/1470|150/489||,A|synonymous_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding|4/13|c.414C>T|p.Tyr138Tyr|589/1814|414/1434|138/477||,A|synonymous_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding|4/9|c.414C>T|p.Tyr138Tyr|552/1069|414/873|138/290||,A|synonymous_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000420689|protein_coding|4/5|c.414C>T|p.Tyr138Tyr|589/750|414/575|138/190||WARNING_TRANSCRIPT_INCOMPLETE,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|5/14|c.-37C>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000414269|protein_coding|2/7|c.-37C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|5_prime_UTR_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|5/14|c.-37C>T|||||37|,A|5_prime_UTR_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000414269|protein_coding|2/7|c.-37C>T|||||37|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000460507|processed_transcript||n.*508C>T|||||61|,A|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000474327|processed_transcript||n.*338C>T|||||201|,A|non_coding_exon_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000490679|processed_transcript|4/4|n.480C>T|||||| 22 45312306 . C T . . ANN=T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|4/13|c.418G>A|p.Ala140Thr|569/3671|418/1596|140/531||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|4/13|c.418G>A|p.Ala140Thr|487/3460|418/1470|140/489||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding|4/13|c.382G>A|p.Ala128Thr|557/1814|382/1434|128/477||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding|4/9|c.382G>A|p.Ala128Thr|520/1069|382/873|128/290||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000420689|protein_coding|4/5|c.382G>A|p.Ala128Thr|557/750|382/575|128/190||WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|5/14|c.-69G>A|||||69|,T|5_prime_UTR_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000414269|protein_coding|2/7|c.-69G>A|||||69|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000460507|processed_transcript||n.*508G>A|||||29|,T|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000474327|processed_transcript||n.*338G>A|||||169|,T|non_coding_exon_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000490679|processed_transcript|4/4|n.448G>A|||||| 22 45312307 . G A . . ANN=A|synonymous_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|4/13|c.417C>T|p.Leu139Leu|568/3671|417/1596|139/531||,A|synonymous_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|4/13|c.417C>T|p.Leu139Leu|486/3460|417/1470|139/489||,A|synonymous_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding|4/13|c.381C>T|p.Leu127Leu|556/1814|381/1434|127/477||,A|synonymous_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding|4/9|c.381C>T|p.Leu127Leu|519/1069|381/873|127/290||,A|synonymous_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000420689|protein_coding|4/5|c.381C>T|p.Leu127Leu|556/750|381/575|127/190||WARNING_TRANSCRIPT_INCOMPLETE,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|5/14|c.-70C>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000414269|protein_coding|2/7|c.-70C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|5_prime_UTR_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|5/14|c.-70C>T|||||70|,A|5_prime_UTR_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000414269|protein_coding|2/7|c.-70C>T|||||70|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000460507|processed_transcript||n.*508C>T|||||28|,A|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000474327|processed_transcript||n.*338C>T|||||168|,A|non_coding_exon_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000490679|processed_transcript|4/4|n.447C>T|||||| 22 45312345 . C T . . ANN=T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|4/13|c.379G>A|p.Gly127Ser|530/3671|379/1596|127/531||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|4/13|c.379G>A|p.Gly127Ser|448/3460|379/1470|127/489||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding|4/13|c.343G>A|p.Gly115Ser|518/1814|343/1434|115/477||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding|4/9|c.343G>A|p.Gly115Ser|481/1069|343/873|115/290||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000420689|protein_coding|4/5|c.343G>A|p.Gly115Ser|518/750|343/575|115/190||WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|5/14|c.-108G>A|||||108|,T|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000474327|processed_transcript||n.*338G>A|||||130|,T|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000414269|protein_coding|1/6|c.-93-15G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000490679|processed_transcript|4/4|n.409G>A||||||,T|non_coding_exon_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000460507|processed_transcript|4/4|n.498G>A|||||| 22 45312430 . G C . . ANN=C|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|4/13|c.294C>G|p.Phe98Leu|445/3671|294/1596|98/531||,C|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|4/13|c.294C>G|p.Phe98Leu|363/3460|294/1470|98/489||,C|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding|4/13|c.258C>G|p.Phe86Leu|433/1814|258/1434|86/477||,C|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding|4/9|c.258C>G|p.Phe86Leu|396/1069|258/873|86/290||,C|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000420689|protein_coding|4/5|c.258C>G|p.Phe86Leu|433/750|258/575|86/190||WARNING_TRANSCRIPT_INCOMPLETE,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|5/14|c.-193C>G||||||,C|5_prime_UTR_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|5/14|c.-193C>G|||||193|,C|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000474327|processed_transcript||n.*338C>G|||||45|,C|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000414269|protein_coding|1/6|c.-93-100C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000490679|processed_transcript|4/4|n.324C>G||||||,C|non_coding_exon_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000460507|processed_transcript|4/4|n.413C>G|||||| 22 45312455 . C T . . ANN=T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|4/13|c.269G>A|p.Arg90Gln|420/3671|269/1596|90/531||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|4/13|c.269G>A|p.Arg90Gln|338/3460|269/1470|90/489||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding|4/13|c.233G>A|p.Arg78Gln|408/1814|233/1434|78/477||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding|4/9|c.233G>A|p.Arg78Gln|371/1069|233/873|78/290||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000420689|protein_coding|4/5|c.233G>A|p.Arg78Gln|408/750|233/575|78/190||WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|5/14|c.-218G>A|||||218|,T|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000474327|processed_transcript||n.*338G>A|||||20|,T|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000414269|protein_coding|1/6|c.-93-125G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000490679|processed_transcript|4/4|n.299G>A||||||,T|non_coding_exon_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000460507|processed_transcript|4/4|n.388G>A|||||| 22 45312474 . C T . . ANN=T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|4/13|c.250G>A|p.Val84Ile|401/3671|250/1596|84/531||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|4/13|c.250G>A|p.Val84Ile|319/3460|250/1470|84/489||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding|4/13|c.214G>A|p.Val72Ile|389/1814|214/1434|72/477||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding|4/9|c.214G>A|p.Val72Ile|352/1069|214/873|72/290||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000420689|protein_coding|4/5|c.214G>A|p.Val72Ile|389/750|214/575|72/190||WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|5/14|c.-237G>A|||||237|,T|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000474327|processed_transcript||n.*338G>A|||||1|,T|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000414269|protein_coding|1/6|c.-93-144G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000490679|processed_transcript|4/4|n.280G>A||||||,T|non_coding_exon_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000460507|processed_transcript|4/4|n.369G>A|||||| 22 45316250 . C T . . ANN=T|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|3/12|c.213+28G>A||||||,T|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|4/13|c.-274+28G>A||||||,T|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|3/12|c.213+28G>A||||||,T|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding|3/12|c.177+28G>A||||||,T|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding|3/8|c.177+28G>A||||||,T|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000414269|protein_coding|1/6|c.-93-3920G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000420689|protein_coding|3/4|c.177+28G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000490679|processed_transcript|3/3|n.243+28G>A||||||,T|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000460507|processed_transcript|3/3|n.332+28G>A||||||,T|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000474327|processed_transcript|4/4|n.302+28G>A|||||| 22 45316293 . C T . . ANN=T|synonymous_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|3/13|c.198G>A|p.Ala66Ala|349/3671|198/1596|66/531||,T|synonymous_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|3/13|c.198G>A|p.Ala66Ala|267/3460|198/1470|66/489||,T|synonymous_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding|3/13|c.162G>A|p.Ala54Ala|337/1814|162/1434|54/477||,T|synonymous_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding|3/9|c.162G>A|p.Ala54Ala|300/1069|162/873|54/290||,T|synonymous_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000420689|protein_coding|3/5|c.162G>A|p.Ala54Ala|337/750|162/575|54/190||WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|4/14|c.-289G>A|||||4056|,T|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000414269|protein_coding|1/6|c.-93-3963G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000490679|processed_transcript|3/4|n.228G>A||||||,T|non_coding_exon_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000460507|processed_transcript|3/4|n.317G>A||||||,T|non_coding_exon_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000474327|processed_transcript|4/5|n.287G>A|||||| 22 45404497 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|1/12|c.55-6C>T||||||,A|splice_region_variant&intron_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|1/13|c.-478-6C>T||||||,A|splice_region_variant&intron_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|1/12|c.55-6C>T||||||,A|splice_region_variant&intron_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding|1/12|c.19-6C>T||||||,A|splice_region_variant&intron_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding|1/8|c.19-6C>T||||||,A|splice_region_variant&intron_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000420689|protein_coding|1/4|c.19-6C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|splice_region_variant&intron_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000490679|processed_transcript|1/3|n.85-6C>T||||||,A|splice_region_variant&intron_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000474327|processed_transcript|1/4|n.98-6C>T||||||,A|splice_region_variant&intron_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000495348|processed_transcript|1/2|n.53-6C>T||||||,A|splice_region_variant&intron_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000491522|retained_intron|1/1|n.118-6C>T||||||,A|upstream_gene_variant|MODIFIER|RP4-753M9.1|ENSG00000230922|transcript|ENST00000424580|sense_intronic||n.-1C>T|||||4997|,A|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000414269|protein_coding|1/6|c.-94+1333C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 45405433 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|1/13|c.-3G>A|||||3|,T|5_prime_UTR_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|1/13|c.-3G>A|||||3|,T|upstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding||c.-679G>A|||||559|,T|upstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding||c.-176G>A|||||566|,T|upstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding||c.-139G>A|||||603|,T|upstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000420689|protein_coding||c.-176G>A|||||566|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000490679|processed_transcript||n.-1G>A|||||231|,T|upstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000495348|processed_transcript||n.-1G>A|||||5|,T|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000414269|protein_coding|1/6|c.-94+397G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000474327|processed_transcript|1/5|n.41G>A||||||,T|non_coding_exon_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000491522|retained_intron|1/2|n.61G>A|||||| 22 45405434 . G C . . ANN=C|5_prime_UTR_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|1/13|c.-4C>G|||||4|,C|5_prime_UTR_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|1/13|c.-4C>G|||||4|,C|upstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding||c.-679C>G|||||560|,C|upstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding||c.-176C>G|||||567|,C|upstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding||c.-139C>G|||||604|,C|upstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000420689|protein_coding||c.-176C>G|||||567|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000490679|processed_transcript||n.-1C>G|||||232|,C|upstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000495348|processed_transcript||n.-1C>G|||||6|,C|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000414269|protein_coding|1/6|c.-94+396C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000474327|processed_transcript|1/5|n.40C>G||||||,C|non_coding_exon_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000491522|retained_intron|1/2|n.60C>G|||||| 22 45564028 . C T . . ANN=T|upstream_gene_variant|MODIFIER|CTA-217C2.1|ENSG00000226328|transcript|ENST00000426282|lincRNA||n.-1G>A|||||4366|,T|upstream_gene_variant|MODIFIER|CTA-217C2.1|ENSG00000226328|transcript|ENST00000432502|lincRNA||n.-1G>A|||||4488|,T|upstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000419387|nonsense_mediated_decay||n.-13C>T|||||19|,T|upstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000422489|protein_coding||c.-8C>T|||||24|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000486184|processed_transcript||n.-1C>T|||||2903|,T|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000347635|protein_coding|1/7|c.-10-21C>T||||||,T|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000407019|protein_coding|1/8|c.-250-21C>T||||||,T|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000424634|protein_coding|2/3|c.-10-21C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000417702|protein_coding|1/3|c.-259-21C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000497960|retained_intron|1/2|n.301-21C>T||||||,T|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000461437|processed_transcript|2/3|n.421-21C>T||||||,T|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000425733|protein_coding|1/6|c.-573-21C>T||||||,T|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000434760|nonsense_mediated_decay|1/4|n.-10-21C>T||||||,T|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000430547|protein_coding|1/3|c.-10-21C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000484186|processed_transcript|1/3|n.16-21C>T||||||,T|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000445721|protein_coding|2/2|c.-10-21C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000493456|processed_transcript|1/4|n.124+3389C>T||||||,T|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000396096|protein_coding|1/8|c.-284-21C>T||||||,T|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000461194|processed_transcript|2/3|n.316-21C>T||||||,T|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000432340|protein_coding|2/2|c.-10-21C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 45564161 . T G . . ANN=G|upstream_gene_variant|MODIFIER|CTA-217C2.1|ENSG00000226328|transcript|ENST00000426282|lincRNA||n.-1A>C|||||4499|,G|upstream_gene_variant|MODIFIER|CTA-217C2.1|ENSG00000226328|transcript|ENST00000432502|lincRNA||n.-1A>C|||||4621|,G|upstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000486184|processed_transcript||n.-1T>G|||||2770|,G|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000445721|protein_coding||c.*443T>G|||||73|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000432340|protein_coding||c.*551T>G|||||90|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000347635|protein_coding|2/7|c.69+34T>G||||||,G|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000407019|protein_coding|2/8|c.-172+34T>G||||||,G|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000424634|protein_coding|3/3|c.69+34T>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000417702|protein_coding|2/3|c.-181+34T>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000497960|retained_intron|2/2|n.379+34T>G||||||,G|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000461437|processed_transcript|3/3|n.499+34T>G||||||,G|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000425733|protein_coding|2/6|c.-495+34T>G||||||,G|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000434760|nonsense_mediated_decay|2/4|n.69+34T>G||||||,G|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000430547|protein_coding|2/3|c.69+34T>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000484186|processed_transcript|2/3|n.94+34T>G||||||,G|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000493456|processed_transcript|1/4|n.124+3522T>G||||||,G|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000396096|protein_coding|2/8|c.-206+34T>G||||||,G|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000461194|processed_transcript|3/3|n.394+34T>G||||||,G|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000419387|nonsense_mediated_decay|1/3|n.69+34T>G||||||,G|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000422489|protein_coding|1/4|c.69+34T>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 45567477 . G T . . ANN=T|splice_region_variant&intron_variant|LOW|NUP50|ENSG00000093000|transcript|ENST00000347635|protein_coding|2/7|c.70-4G>T||||||,T|splice_region_variant&intron_variant|LOW|NUP50|ENSG00000093000|transcript|ENST00000407019|protein_coding|3/8|c.-15-4G>T||||||,T|splice_region_variant&intron_variant|LOW|NUP50|ENSG00000093000|transcript|ENST00000424634|protein_coding|3/3|c.70-4G>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|splice_region_variant&intron_variant|LOW|NUP50|ENSG00000093000|transcript|ENST00000417702|protein_coding|3/3|c.-15-4G>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|splice_region_variant&intron_variant|LOW|NUP50|ENSG00000093000|transcript|ENST00000497960|retained_intron|2/2|n.380-4G>T||||||,T|splice_region_variant&intron_variant|LOW|NUP50|ENSG00000093000|transcript|ENST00000425733|protein_coding|2/6|c.-494-4G>T||||||,T|splice_region_variant&intron_variant|LOW|NUP50|ENSG00000093000|transcript|ENST00000434760|nonsense_mediated_decay|3/4|n.*167-4G>T||||||,T|splice_region_variant&intron_variant|LOW|NUP50|ENSG00000093000|transcript|ENST00000430547|protein_coding|2/3|c.70-4G>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|splice_region_variant&intron_variant|LOW|NUP50|ENSG00000093000|transcript|ENST00000484186|processed_transcript|3/3|n.285-4G>T||||||,T|splice_region_variant&intron_variant|LOW|NUP50|ENSG00000093000|transcript|ENST00000396096|protein_coding|3/8|c.-15-4G>T||||||,T|splice_region_variant&intron_variant|LOW|NUP50|ENSG00000093000|transcript|ENST00000419387|nonsense_mediated_decay|2/3|n.*167-4G>T||||||,T|splice_region_variant&intron_variant|LOW|NUP50|ENSG00000093000|transcript|ENST00000422489|protein_coding|1/4|c.70-4G>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|splice_region_variant&intron_variant|LOW|NUP50|ENSG00000093000|transcript|ENST00000486184|processed_transcript|1/4|n.129-4G>T||||||,T|upstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000491860|processed_transcript||n.-1G>T|||||4222|,T|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000461437|processed_transcript||n.*531G>T|||||577|,T|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000445721|protein_coding||c.*443G>T|||||3389|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000461194|processed_transcript||n.*550G>T|||||453|,T|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000432340|protein_coding||c.*551G>T|||||3406|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000493456|processed_transcript|1/4|n.124+6838G>T|||||| 22 45567544 . C T . . ANN=T|missense_variant|MODERATE|NUP50|ENSG00000093000|transcript|ENST00000347635|protein_coding|3/8|c.133C>T|p.Arg45Cys|599/5233|133/1407|45/468||,T|missense_variant|MODERATE|NUP50|ENSG00000093000|transcript|ENST00000407019|protein_coding|4/9|c.49C>T|p.Arg17Cys|610/2059|49/1323|17/440||,T|missense_variant|MODERATE|NUP50|ENSG00000093000|transcript|ENST00000424634|protein_coding|4/4|c.133C>T|p.Arg45Cys|575/579|133/137|45/44||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|NUP50|ENSG00000093000|transcript|ENST00000430547|protein_coding|3/4|c.133C>T|p.Arg45Cys|440/537|133/230|45/75||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|NUP50|ENSG00000093000|transcript|ENST00000396096|protein_coding|4/9|c.49C>T|p.Arg17Cys|446/1895|49/1323|17/440||,T|missense_variant|MODERATE|NUP50|ENSG00000093000|transcript|ENST00000422489|protein_coding|2/5|c.133C>T|p.Arg45Cys|140/543|133/536|45/177||WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000425733|protein_coding|3/7|c.-431C>T|||||6985|,T|3_prime_UTR_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000434760|nonsense_mediated_decay|4/5|n.*230C>T|||||652|,T|3_prime_UTR_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000419387|nonsense_mediated_decay|3/4|n.*230C>T|||||652|,T|upstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000491860|processed_transcript||n.-1C>T|||||4155|,T|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000417702|protein_coding||c.*584C>T|||||24|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000461437|processed_transcript||n.*531C>T|||||644|,T|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000445721|protein_coding||c.*443C>T|||||3456|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000461194|processed_transcript||n.*550C>T|||||520|,T|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000432340|protein_coding||c.*551C>T|||||3473|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000493456|processed_transcript|1/4|n.124+6905C>T||||||,T|non_coding_exon_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000497960|retained_intron|3/3|n.443C>T||||||,T|non_coding_exon_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000434760|nonsense_mediated_decay|4/5|n.*230C>T||||||,T|non_coding_exon_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000484186|processed_transcript|4/4|n.348C>T||||||,T|non_coding_exon_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000419387|nonsense_mediated_decay|3/4|n.*230C>T||||||,T|non_coding_exon_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000486184|processed_transcript|2/5|n.192C>T|||||| 22 45567580 . C A . . ANN=A|upstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000491860|processed_transcript||n.-1C>A|||||4119|,A|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000424634|protein_coding||c.*579C>A|||||32|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000417702|protein_coding||c.*584C>A|||||60|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000461437|processed_transcript||n.*531C>A|||||680|,A|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000445721|protein_coding||c.*443C>A|||||3492|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000461194|processed_transcript||n.*550C>A|||||556|,A|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000432340|protein_coding||c.*551C>A|||||3509|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000347635|protein_coding|3/7|c.153+16C>A||||||,A|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000407019|protein_coding|4/8|c.69+16C>A||||||,A|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000425733|protein_coding|3/6|c.-411+16C>A||||||,A|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000434760|nonsense_mediated_decay|4/4|n.*250+16C>A||||||,A|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000430547|protein_coding|3/3|c.153+16C>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000493456|processed_transcript|1/4|n.124+6941C>A||||||,A|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000396096|protein_coding|4/8|c.69+16C>A||||||,A|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000419387|nonsense_mediated_decay|3/3|n.*250+16C>A||||||,A|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000422489|protein_coding|2/4|c.153+16C>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000486184|processed_transcript|2/4|n.212+16C>A||||||,A|non_coding_exon_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000497960|retained_intron|3/3|n.479C>A||||||,A|non_coding_exon_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000484186|processed_transcript|4/4|n.384C>A|||||| 22 45567585 . C A . . ANN=A|upstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000491860|processed_transcript||n.-1C>A|||||4114|,A|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000424634|protein_coding||c.*579C>A|||||37|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000417702|protein_coding||c.*584C>A|||||65|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000461437|processed_transcript||n.*531C>A|||||685|,A|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000445721|protein_coding||c.*443C>A|||||3497|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000461194|processed_transcript||n.*550C>A|||||561|,A|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000432340|protein_coding||c.*551C>A|||||3514|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000347635|protein_coding|3/7|c.153+21C>A||||||,A|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000407019|protein_coding|4/8|c.69+21C>A||||||,A|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000425733|protein_coding|3/6|c.-411+21C>A||||||,A|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000434760|nonsense_mediated_decay|4/4|n.*250+21C>A||||||,A|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000430547|protein_coding|3/3|c.153+21C>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000493456|processed_transcript|1/4|n.124+6946C>A||||||,A|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000396096|protein_coding|4/8|c.69+21C>A||||||,A|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000419387|nonsense_mediated_decay|3/3|n.*250+21C>A||||||,A|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000422489|protein_coding|2/4|c.153+21C>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000486184|processed_transcript|2/4|n.212+21C>A||||||,A|non_coding_exon_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000497960|retained_intron|3/3|n.484C>A||||||,A|non_coding_exon_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000484186|processed_transcript|4/4|n.389C>A|||||| 22 45571735 . A C . . ANN=C|upstream_gene_variant|MODIFIER|CTA-268H5.12|ENSG00000273353|transcript|ENST00000610217|sense_intronic||n.-1A>C|||||3136|,C|upstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000469163|retained_intron||n.-1A>C|||||1845|,C|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000424634|protein_coding||c.*579A>C|||||4187|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000417702|protein_coding||c.*584A>C|||||4215|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000497960|retained_intron||n.*986A>C|||||3648|,C|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000461437|processed_transcript||n.*531A>C|||||4835|,C|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000484186|processed_transcript||n.*431A>C|||||4108|,C|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000461194|processed_transcript||n.*550A>C|||||4711|,C|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000347635|protein_coding|3/7|c.154-40A>C||||||,C|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000407019|protein_coding|4/8|c.70-40A>C||||||,C|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000425733|protein_coding|3/6|c.-410-2384A>C||||||,C|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000434760|nonsense_mediated_decay|4/4|n.*251-40A>C||||||,C|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000430547|protein_coding|3/3|c.154-2384A>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000493456|processed_transcript|1/4|n.125-4366A>C||||||,C|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000396096|protein_coding|4/8|c.70-40A>C||||||,C|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000419387|nonsense_mediated_decay|3/3|n.*251-2384A>C||||||,C|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000422489|protein_coding|2/4|c.154-40A>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000486184|processed_transcript|3/4|n.442-40A>C||||||,C|non_coding_exon_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000491860|processed_transcript|1/2|n.37A>C|||||| 22 45571887 . C T . . ANN=T|missense_variant|MODERATE|NUP50|ENSG00000093000|transcript|ENST00000347635|protein_coding|4/8|c.266C>T|p.Ser89Leu|732/5233|266/1407|89/468||,T|missense_variant|MODERATE|NUP50|ENSG00000093000|transcript|ENST00000407019|protein_coding|5/9|c.182C>T|p.Ser61Leu|743/2059|182/1323|61/440||,T|missense_variant|MODERATE|NUP50|ENSG00000093000|transcript|ENST00000396096|protein_coding|5/9|c.182C>T|p.Ser61Leu|579/1895|182/1323|61/440||,T|missense_variant|MODERATE|NUP50|ENSG00000093000|transcript|ENST00000422489|protein_coding|3/5|c.266C>T|p.Ser89Leu|273/543|266/536|89/177||WARNING_TRANSCRIPT_INCOMPLETE,T|splice_region_variant&non_coding_exon_variant|LOW|NUP50|ENSG00000093000|transcript|ENST00000434760|nonsense_mediated_decay|5/5|n.*363C>T||||||,T|sequence_feature|LOW|NUP50|ENSG00000093000|compositionally_biased_region:Gly-rich|ENST00000347635|protein_coding|4/8|c.266C>T||||||,T|sequence_feature|LOW|NUP50|ENSG00000093000|region_of_interest:5_X_2_AA_repeats_of_F-G|ENST00000347635|protein_coding|5/8|c.266C>T||||||,T|sequence_feature|LOW|NUP50|ENSG00000093000|region_of_interest:5_X_2_AA_repeats_of_F-G|ENST00000347635|protein_coding|4/8|c.266C>T||||||,T|sequence_feature|LOW|NUP50|ENSG00000093000|compositionally_biased_region:Gly-rich|ENST00000396096|protein_coding|5/9|c.182C>T||||||,T|sequence_feature|LOW|NUP50|ENSG00000093000|region_of_interest:5_X_2_AA_repeats_of_F-G|ENST00000396096|protein_coding|6/9|c.182C>T||||||,T|sequence_feature|LOW|NUP50|ENSG00000093000|region_of_interest:5_X_2_AA_repeats_of_F-G|ENST00000396096|protein_coding|5/9|c.182C>T||||||,T|3_prime_UTR_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000434760|nonsense_mediated_decay|5/5|n.*363C>T|||||4995|,T|upstream_gene_variant|MODIFIER|CTA-268H5.12|ENSG00000273353|transcript|ENST00000610217|sense_intronic||n.-1C>T|||||2984|,T|upstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000469163|retained_intron||n.-1C>T|||||1693|,T|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000424634|protein_coding||c.*579C>T|||||4339|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000417702|protein_coding||c.*584C>T|||||4367|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000497960|retained_intron||n.*986C>T|||||3800|,T|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000461437|processed_transcript||n.*531C>T|||||4987|,T|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000484186|processed_transcript||n.*431C>T|||||4260|,T|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000461194|processed_transcript||n.*550C>T|||||4863|,T|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000425733|protein_coding|3/6|c.-410-2232C>T||||||,T|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000430547|protein_coding|3/3|c.154-2232C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000493456|processed_transcript|1/4|n.125-4214C>T||||||,T|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000419387|nonsense_mediated_decay|3/3|n.*251-2232C>T||||||,T|non_coding_exon_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000486184|processed_transcript|4/5|n.554C>T||||||,T|non_coding_exon_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000491860|processed_transcript|1/2|n.189C>T|||||| 22 45571926 . G A . . ANN=A|missense_variant|MODERATE|NUP50|ENSG00000093000|transcript|ENST00000347635|protein_coding|4/8|c.305G>A|p.Ser102Asn|771/5233|305/1407|102/468||,A|missense_variant|MODERATE|NUP50|ENSG00000093000|transcript|ENST00000407019|protein_coding|5/9|c.221G>A|p.Ser74Asn|782/2059|221/1323|74/440||,A|missense_variant|MODERATE|NUP50|ENSG00000093000|transcript|ENST00000396096|protein_coding|5/9|c.221G>A|p.Ser74Asn|618/1895|221/1323|74/440||,A|missense_variant|MODERATE|NUP50|ENSG00000093000|transcript|ENST00000422489|protein_coding|3/5|c.305G>A|p.Ser102Asn|312/543|305/536|102/177||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|NUP50|ENSG00000093000|region_of_interest:5_X_2_AA_repeats_of_F-G|ENST00000347635|protein_coding|5/8|c.305G>A||||||,A|sequence_feature|LOW|NUP50|ENSG00000093000|region_of_interest:5_X_2_AA_repeats_of_F-G|ENST00000347635|protein_coding|4/8|c.305G>A||||||,A|sequence_feature|LOW|NUP50|ENSG00000093000|region_of_interest:5_X_2_AA_repeats_of_F-G|ENST00000396096|protein_coding|6/9|c.221G>A||||||,A|sequence_feature|LOW|NUP50|ENSG00000093000|region_of_interest:5_X_2_AA_repeats_of_F-G|ENST00000396096|protein_coding|5/9|c.221G>A||||||,A|upstream_gene_variant|MODIFIER|CTA-268H5.12|ENSG00000273353|transcript|ENST00000610217|sense_intronic||n.-1G>A|||||2945|,A|upstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000469163|retained_intron||n.-1G>A|||||1654|,A|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000424634|protein_coding||c.*579G>A|||||4378|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000417702|protein_coding||c.*584G>A|||||4406|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000497960|retained_intron||n.*986G>A|||||3839|,A|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000434760|nonsense_mediated_decay||n.*400G>A|||||39|,A|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000484186|processed_transcript||n.*431G>A|||||4299|,A|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000461194|processed_transcript||n.*550G>A|||||4902|,A|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000425733|protein_coding|3/6|c.-410-2193G>A||||||,A|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000430547|protein_coding|3/3|c.154-2193G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000493456|processed_transcript|1/4|n.125-4175G>A||||||,A|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000419387|nonsense_mediated_decay|3/3|n.*251-2193G>A||||||,A|non_coding_exon_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000486184|processed_transcript|4/5|n.593G>A||||||,A|non_coding_exon_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000491860|processed_transcript|1/2|n.228G>A|||||| 22 45577231 . T C . . ANN=C|synonymous_variant|LOW|NUP50|ENSG00000093000|transcript|ENST00000347635|protein_coding|6/8|c.1068T>C|p.Asp356Asp|1534/5233|1068/1407|356/468||,C|synonymous_variant|LOW|NUP50|ENSG00000093000|transcript|ENST00000407019|protein_coding|7/9|c.984T>C|p.Asp328Asp|1545/2059|984/1323|328/440||,C|synonymous_variant|LOW|NUP50|ENSG00000093000|transcript|ENST00000425733|protein_coding|5/7|c.318T>C|p.Asp106Asp|1189/2030|318/657|106/218||,C|synonymous_variant|LOW|NUP50|ENSG00000093000|transcript|ENST00000396096|protein_coding|7/9|c.984T>C|p.Asp328Asp|1381/1895|984/1323|328/440||,C|synonymous_variant|LOW|NUP50|ENSG00000093000|transcript|ENST00000422489|protein_coding|4/5|c.405T>C|p.Asp135Asp|412/543|405/536|135/177||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|NUP50|ENSG00000093000|domain:RanBD1|ENST00000347635|protein_coding|7/8|c.1068T>C||||||,C|sequence_feature|LOW|NUP50|ENSG00000093000|domain:RanBD1|ENST00000347635|protein_coding|8/8|c.1068T>C||||||,C|sequence_feature|LOW|NUP50|ENSG00000093000|domain:RanBD1|ENST00000347635|protein_coding|5/8|c.1068T>C||||||,C|sequence_feature|LOW|NUP50|ENSG00000093000|domain:RanBD1|ENST00000347635|protein_coding|6/8|c.1068T>C||||||,C|sequence_feature|LOW|NUP50|ENSG00000093000|domain:RanBD1|ENST00000396096|protein_coding|8/9|c.984T>C||||||,C|sequence_feature|LOW|NUP50|ENSG00000093000|domain:RanBD1|ENST00000396096|protein_coding|6/9|c.984T>C||||||,C|sequence_feature|LOW|NUP50|ENSG00000093000|domain:RanBD1|ENST00000396096|protein_coding|9/9|c.984T>C||||||,C|sequence_feature|LOW|NUP50|ENSG00000093000|domain:RanBD1|ENST00000396096|protein_coding|7/9|c.984T>C||||||,C|downstream_gene_variant|MODIFIER|CTA-268H5.12|ENSG00000273353|transcript|ENST00000610217|sense_intronic||n.*321T>C|||||2040|,C|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000430547|protein_coding||c.*537T>C|||||3036|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000419387|nonsense_mediated_decay||n.*105T>C|||||2450|,C|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000486184|processed_transcript||n.*821T>C|||||2920|,C|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000491860|processed_transcript||n.*493T>C|||||2883|,C|non_coding_exon_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000493456|processed_transcript|3/5|n.290T>C||||||,C|non_coding_exon_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000469163|retained_intron|2/3|n.1267T>C|||||| 22 45577260 . C G . . ANN=G|sequence_feature|LOW|NUP50|ENSG00000093000|domain:RanBD1|ENST00000347635|protein_coding|7/8|c.1085+12C>G||||||,G|sequence_feature|LOW|NUP50|ENSG00000093000|domain:RanBD1|ENST00000347635|protein_coding|8/8|c.1085+12C>G||||||,G|sequence_feature|LOW|NUP50|ENSG00000093000|domain:RanBD1|ENST00000347635|protein_coding|5/8|c.1085+12C>G||||||,G|sequence_feature|LOW|NUP50|ENSG00000093000|domain:RanBD1|ENST00000347635|protein_coding|6/8|c.1085+12C>G||||||,G|sequence_feature|LOW|NUP50|ENSG00000093000|beta_strand|ENST00000347635|protein_coding|7/8|c.1085+12C>G||||||,G|sequence_feature|LOW|NUP50|ENSG00000093000|beta_strand|ENST00000347635|protein_coding|6/8|c.1085+12C>G||||||,G|sequence_feature|LOW|NUP50|ENSG00000093000|domain:RanBD1|ENST00000396096|protein_coding|8/9|c.1001+12C>G||||||,G|sequence_feature|LOW|NUP50|ENSG00000093000|domain:RanBD1|ENST00000396096|protein_coding|6/9|c.1001+12C>G||||||,G|sequence_feature|LOW|NUP50|ENSG00000093000|domain:RanBD1|ENST00000396096|protein_coding|9/9|c.1001+12C>G||||||,G|sequence_feature|LOW|NUP50|ENSG00000093000|domain:RanBD1|ENST00000396096|protein_coding|7/9|c.1001+12C>G||||||,G|sequence_feature|LOW|NUP50|ENSG00000093000|beta_strand|ENST00000396096|protein_coding|8/9|c.1001+12C>G||||||,G|sequence_feature|LOW|NUP50|ENSG00000093000|beta_strand|ENST00000396096|protein_coding|7/9|c.1001+12C>G||||||,G|downstream_gene_variant|MODIFIER|CTA-268H5.12|ENSG00000273353|transcript|ENST00000610217|sense_intronic||n.*321C>G|||||2069|,G|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000430547|protein_coding||c.*537C>G|||||3065|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000419387|nonsense_mediated_decay||n.*105C>G|||||2479|,G|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000486184|processed_transcript||n.*821C>G|||||2949|,G|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000491860|processed_transcript||n.*493C>G|||||2912|,G|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000347635|protein_coding|6/7|c.1085+12C>G||||||,G|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000407019|protein_coding|7/8|c.1001+12C>G||||||,G|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000425733|protein_coding|5/6|c.335+12C>G||||||,G|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000493456|processed_transcript|3/4|n.307+12C>G||||||,G|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000396096|protein_coding|7/8|c.1001+12C>G||||||,G|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000422489|protein_coding|4/4|c.422+12C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000469163|retained_intron|2/2|n.1284+12C>G|||||| 22 45579422 . A G . . ANN=G|sequence_feature|LOW|NUP50|ENSG00000093000|domain:RanBD1|ENST00000347635|protein_coding|7/8|c.1204+21A>G||||||,G|sequence_feature|LOW|NUP50|ENSG00000093000|domain:RanBD1|ENST00000347635|protein_coding|8/8|c.1204+21A>G||||||,G|sequence_feature|LOW|NUP50|ENSG00000093000|domain:RanBD1|ENST00000347635|protein_coding|5/8|c.1204+21A>G||||||,G|sequence_feature|LOW|NUP50|ENSG00000093000|domain:RanBD1|ENST00000347635|protein_coding|6/8|c.1204+21A>G||||||,G|sequence_feature|LOW|NUP50|ENSG00000093000|domain:RanBD1|ENST00000396096|protein_coding|8/9|c.1120+21A>G||||||,G|sequence_feature|LOW|NUP50|ENSG00000093000|domain:RanBD1|ENST00000396096|protein_coding|6/9|c.1120+21A>G||||||,G|sequence_feature|LOW|NUP50|ENSG00000093000|domain:RanBD1|ENST00000396096|protein_coding|9/9|c.1120+21A>G||||||,G|sequence_feature|LOW|NUP50|ENSG00000093000|domain:RanBD1|ENST00000396096|protein_coding|7/9|c.1120+21A>G||||||,G|downstream_gene_variant|MODIFIER|CTA-268H5.12|ENSG00000273353|transcript|ENST00000610217|sense_intronic||n.*321A>G|||||4231|,G|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000419387|nonsense_mediated_decay||n.*105A>G|||||4641|,G|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000422489|protein_coding||c.*543A>G|||||26|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000347635|protein_coding|7/7|c.1204+21A>G||||||,G|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000407019|protein_coding|8/8|c.1120+21A>G||||||,G|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000425733|protein_coding|6/6|c.454+21A>G||||||,G|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000493456|processed_transcript|4/4|n.426+21A>G||||||,G|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000396096|protein_coding|8/8|c.1120+21A>G||||||,G|non_coding_exon_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000469163|retained_intron|3/3|n.1424A>G|||||| 22 45580435 . GAGA G . . ANN=|disruptive_inframe_deletion|MODERATE|NUP50|ENSG00000093000|transcript|ENST00000347635|protein_coding|8/8|c.1311_1313delGAA|p.Lys437del|1777/5233|1311/1407|437/468||INFO_REALIGN_3_PRIME,|disruptive_inframe_deletion|MODERATE|NUP50|ENSG00000093000|transcript|ENST00000407019|protein_coding|9/9|c.1227_1229delGAA|p.Lys409del|1788/2059|1227/1323|409/440||INFO_REALIGN_3_PRIME,|disruptive_inframe_deletion|MODERATE|NUP50|ENSG00000093000|transcript|ENST00000425733|protein_coding|7/7|c.561_563delGAA|p.Lys187del|1432/2030|561/657|187/218||INFO_REALIGN_3_PRIME,|disruptive_inframe_deletion|MODERATE|NUP50|ENSG00000093000|transcript|ENST00000396096|protein_coding|9/9|c.1227_1229delGAA|p.Lys409del|1624/1895|1227/1323|409/440||INFO_REALIGN_3_PRIME,|sequence_feature|LOW|NUP50|ENSG00000093000|domain:RanBD1|ENST00000347635|protein_coding|7/8|c.1307_1309delAGA||||||,|sequence_feature|LOW|NUP50|ENSG00000093000|domain:RanBD1|ENST00000347635|protein_coding|8/8|c.1307_1309delAGA||||||,|sequence_feature|LOW|NUP50|ENSG00000093000|domain:RanBD1|ENST00000347635|protein_coding|5/8|c.1307_1309delAGA||||||,|sequence_feature|LOW|NUP50|ENSG00000093000|domain:RanBD1|ENST00000347635|protein_coding|6/8|c.1307_1309delAGA||||||,|sequence_feature|LOW|NUP50|ENSG00000093000|beta_strand|ENST00000347635|protein_coding|8/8|c.1307_1309delAGA||||||,|sequence_feature|LOW|NUP50|ENSG00000093000|domain:RanBD1|ENST00000396096|protein_coding|8/9|c.1223_1225delAGA||||||,|sequence_feature|LOW|NUP50|ENSG00000093000|domain:RanBD1|ENST00000396096|protein_coding|6/9|c.1223_1225delAGA||||||,|sequence_feature|LOW|NUP50|ENSG00000093000|domain:RanBD1|ENST00000396096|protein_coding|9/9|c.1223_1225delAGA||||||,|sequence_feature|LOW|NUP50|ENSG00000093000|domain:RanBD1|ENST00000396096|protein_coding|7/9|c.1223_1225delAGA||||||,|sequence_feature|LOW|NUP50|ENSG00000093000|beta_strand|ENST00000396096|protein_coding|9/9|c.1223_1225delAGA||||||,|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000493456|processed_transcript||n.*478_*478delAGA|||||51|,|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000422489|protein_coding||c.*543_*543delAGA|||||1040|WARNING_TRANSCRIPT_INCOMPLETE,|non_coding_exon_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000469163|retained_intron|3/3|n.2442_2444delGAA||||||INFO_REALIGN_3_PRIME 22 45580569 . G GTT . . ANN=TT|3_prime_UTR_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000347635|protein_coding|8/8|c.*34_*35dupTT|||||36|INFO_REALIGN_3_PRIME,TT|3_prime_UTR_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000407019|protein_coding|9/9|c.*34_*35dupTT|||||36|INFO_REALIGN_3_PRIME,TT|3_prime_UTR_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000425733|protein_coding|7/7|c.*34_*35dupTT|||||36|INFO_REALIGN_3_PRIME,TT|3_prime_UTR_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000396096|protein_coding|9/9|c.*34_*35dupTT|||||36|INFO_REALIGN_3_PRIME,TT|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000493456|processed_transcript||n.*478_*478insTT|||||185|,TT|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000422489|protein_coding||c.*543_*543insTT|||||1174|WARNING_TRANSCRIPT_INCOMPLETE,TT|non_coding_exon_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000469163|retained_intron|3/3|n.2572_2573dupTT||||||INFO_REALIGN_3_PRIME 22 45593055 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000251993|protein_coding|10/10|c.*2C>T|||||2|,A|3_prime_UTR_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000336156|protein_coding|10/10|c.*2C>T|||||2|,A|3_prime_UTR_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000423262|protein_coding|8/8|c.*2C>T|||||2|WARNING_TRANSCRIPT_NO_START_CODON,A|3_prime_UTR_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000391627|protein_coding|10/10|c.*2C>T|||||2|,A|3_prime_UTR_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000443310|protein_coding|10/10|c.*2C>T|||||2|,A|downstream_gene_variant|MODIFIER|MIR1249|ENSG00000221598|transcript|ENST00000408671|miRNA||n.*66C>T|||||3780|,A|non_coding_exon_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000488038|retained_intron|9/9|n.1503C>T||||||,A|non_coding_exon_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000483374|retained_intron|2/2|n.287C>T||||||,A|non_coding_exon_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000498418|retained_intron|3/3|n.539C>T||||||,A|non_coding_exon_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000474515|processed_transcript|4/4|n.456C>T||||||,A|non_coding_exon_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000493003|processed_transcript|4/4|n.518C>T|||||| 22 45593660 . G A . . ANN=A|downstream_gene_variant|MODIFIER|MIR1249|ENSG00000221598|transcript|ENST00000408671|miRNA||n.*66C>T|||||3175|,A|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000251993|protein_coding|9/9|c.1189+11C>T||||||,A|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000336156|protein_coding|9/9|c.1174+11C>T||||||,A|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000423262|protein_coding|7/7|c.829+11C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000391627|protein_coding|9/9|c.1072+11C>T||||||,A|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000488038|retained_intron|8/8|n.1460+11C>T||||||,A|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000483374|retained_intron|1/1|n.244+11C>T||||||,A|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000498418|retained_intron|2/2|n.496+11C>T||||||,A|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000474515|processed_transcript|3/3|n.413+11C>T||||||,A|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000443310|protein_coding|9/9|c.1120+11C>T||||||,A|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000493003|processed_transcript|3/3|n.475+11C>T|||||| 22 45593661 . C T . . ANN=T|downstream_gene_variant|MODIFIER|MIR1249|ENSG00000221598|transcript|ENST00000408671|miRNA||n.*66G>A|||||3174|,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000251993|protein_coding|9/9|c.1189+10G>A||||||,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000336156|protein_coding|9/9|c.1174+10G>A||||||,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000423262|protein_coding|7/7|c.829+10G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000391627|protein_coding|9/9|c.1072+10G>A||||||,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000488038|retained_intron|8/8|n.1460+10G>A||||||,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000483374|retained_intron|1/1|n.244+10G>A||||||,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000498418|retained_intron|2/2|n.496+10G>A||||||,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000474515|processed_transcript|3/3|n.413+10G>A||||||,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000443310|protein_coding|9/9|c.1120+10G>A||||||,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000493003|processed_transcript|3/3|n.475+10G>A|||||| 22 45593696 . C T . . ANN=T|synonymous_variant|LOW|KIAA0930|ENSG00000100364|transcript|ENST00000251993|protein_coding|9/10|c.1164G>A|p.Thr388Thr|1309/2723|1164/1230|388/409||,T|synonymous_variant|LOW|KIAA0930|ENSG00000100364|transcript|ENST00000336156|protein_coding|9/10|c.1149G>A|p.Thr383Thr|1215/8119|1149/1215|383/404||,T|synonymous_variant|LOW|KIAA0930|ENSG00000100364|transcript|ENST00000423262|protein_coding|7/8|c.804G>A|p.Thr268Thr|804/2218|804/870|268/289||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|KIAA0930|ENSG00000100364|transcript|ENST00000391627|protein_coding|9/10|c.1047G>A|p.Thr349Thr|1209/2623|1047/1113|349/370||,T|synonymous_variant|LOW|KIAA0930|ENSG00000100364|transcript|ENST00000443310|protein_coding|9/10|c.1095G>A|p.Thr365Thr|1199/1363|1095/1161|365/386||,T|downstream_gene_variant|MODIFIER|MIR1249|ENSG00000221598|transcript|ENST00000408671|miRNA||n.*66G>A|||||3139|,T|non_coding_exon_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000488038|retained_intron|8/9|n.1435G>A||||||,T|non_coding_exon_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000483374|retained_intron|1/2|n.219G>A||||||,T|non_coding_exon_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000498418|retained_intron|2/3|n.471G>A||||||,T|non_coding_exon_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000474515|processed_transcript|3/4|n.388G>A||||||,T|non_coding_exon_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000493003|processed_transcript|3/4|n.450G>A|||||| 22 45593765 . G A . . ANN=A|synonymous_variant|LOW|KIAA0930|ENSG00000100364|transcript|ENST00000251993|protein_coding|9/10|c.1095C>T|p.Val365Val|1240/2723|1095/1230|365/409||,A|synonymous_variant|LOW|KIAA0930|ENSG00000100364|transcript|ENST00000336156|protein_coding|9/10|c.1080C>T|p.Val360Val|1146/8119|1080/1215|360/404||,A|synonymous_variant|LOW|KIAA0930|ENSG00000100364|transcript|ENST00000423262|protein_coding|7/8|c.735C>T|p.Val245Val|735/2218|735/870|245/289||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|KIAA0930|ENSG00000100364|transcript|ENST00000391627|protein_coding|9/10|c.978C>T|p.Val326Val|1140/2623|978/1113|326/370||,A|synonymous_variant|LOW|KIAA0930|ENSG00000100364|transcript|ENST00000443310|protein_coding|9/10|c.1026C>T|p.Val342Val|1130/1363|1026/1161|342/386||,A|downstream_gene_variant|MODIFIER|MIR1249|ENSG00000221598|transcript|ENST00000408671|miRNA||n.*66C>T|||||3070|,A|non_coding_exon_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000488038|retained_intron|8/9|n.1366C>T||||||,A|non_coding_exon_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000483374|retained_intron|1/2|n.150C>T||||||,A|non_coding_exon_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000498418|retained_intron|2/3|n.402C>T||||||,A|non_coding_exon_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000474515|processed_transcript|3/4|n.319C>T||||||,A|non_coding_exon_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000493003|processed_transcript|3/4|n.381C>T|||||| 22 45593873 . G A . . ANN=A|downstream_gene_variant|MODIFIER|MIR1249|ENSG00000221598|transcript|ENST00000408671|miRNA||n.*66C>T|||||2962|,A|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000251993|protein_coding|8/9|c.1031-44C>T||||||,A|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000336156|protein_coding|8/9|c.1016-44C>T||||||,A|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000423262|protein_coding|6/7|c.671-44C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000391627|protein_coding|8/9|c.914-44C>T||||||,A|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000488038|retained_intron|7/8|n.1302-44C>T||||||,A|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000498418|retained_intron|1/2|n.338-44C>T||||||,A|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000474515|processed_transcript|2/3|n.255-44C>T||||||,A|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000443310|protein_coding|8/9|c.962-44C>T||||||,A|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000493003|processed_transcript|2/3|n.317-44C>T||||||,A|non_coding_exon_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000483374|retained_intron|1/2|n.42C>T|||||| 22 45593874 . C T . . ANN=T|downstream_gene_variant|MODIFIER|MIR1249|ENSG00000221598|transcript|ENST00000408671|miRNA||n.*66G>A|||||2961|,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000251993|protein_coding|8/9|c.1031-45G>A||||||,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000336156|protein_coding|8/9|c.1016-45G>A||||||,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000423262|protein_coding|6/7|c.671-45G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000391627|protein_coding|8/9|c.914-45G>A||||||,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000488038|retained_intron|7/8|n.1302-45G>A||||||,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000498418|retained_intron|1/2|n.338-45G>A||||||,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000474515|processed_transcript|2/3|n.255-45G>A||||||,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000443310|protein_coding|8/9|c.962-45G>A||||||,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000493003|processed_transcript|2/3|n.317-45G>A||||||,T|non_coding_exon_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000483374|retained_intron|1/2|n.41G>A|||||| 22 45595707 . A G . . ANN=G|upstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000483374|retained_intron||n.-1T>C|||||1793|,G|downstream_gene_variant|MODIFIER|MIR1249|ENSG00000221598|transcript|ENST00000408671|miRNA||n.*66T>C|||||1128|,G|downstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000440039|nonsense_mediated_decay||n.*213T>C|||||3305|,G|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000251993|protein_coding|8/9|c.1030+47T>C||||||,G|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000336156|protein_coding|8/9|c.1015+47T>C||||||,G|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000423262|protein_coding|6/7|c.670+47T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000391627|protein_coding|8/9|c.913+47T>C||||||,G|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000488038|retained_intron|7/8|n.1301+47T>C||||||,G|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000498418|retained_intron|1/2|n.337+47T>C||||||,G|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000474515|processed_transcript|2/3|n.254+47T>C||||||,G|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000443310|protein_coding|8/9|c.961+47T>C||||||,G|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000493003|processed_transcript|2/3|n.316+47T>C|||||| 22 45595721 . A G . . ANN=G|upstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000483374|retained_intron||n.-1T>C|||||1807|,G|downstream_gene_variant|MODIFIER|MIR1249|ENSG00000221598|transcript|ENST00000408671|miRNA||n.*66T>C|||||1114|,G|downstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000440039|nonsense_mediated_decay||n.*213T>C|||||3291|,G|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000251993|protein_coding|8/9|c.1030+33T>C||||||,G|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000336156|protein_coding|8/9|c.1015+33T>C||||||,G|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000423262|protein_coding|6/7|c.670+33T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000391627|protein_coding|8/9|c.913+33T>C||||||,G|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000488038|retained_intron|7/8|n.1301+33T>C||||||,G|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000498418|retained_intron|1/2|n.337+33T>C||||||,G|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000474515|processed_transcript|2/3|n.254+33T>C||||||,G|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000443310|protein_coding|8/9|c.961+33T>C||||||,G|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000493003|processed_transcript|2/3|n.316+33T>C|||||| 22 45595726 . G A . . ANN=A|upstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000483374|retained_intron||n.-1C>T|||||1812|,A|downstream_gene_variant|MODIFIER|MIR1249|ENSG00000221598|transcript|ENST00000408671|miRNA||n.*66C>T|||||1109|,A|downstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000440039|nonsense_mediated_decay||n.*213C>T|||||3286|,A|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000251993|protein_coding|8/9|c.1030+28C>T||||||,A|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000336156|protein_coding|8/9|c.1015+28C>T||||||,A|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000423262|protein_coding|6/7|c.670+28C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000391627|protein_coding|8/9|c.913+28C>T||||||,A|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000488038|retained_intron|7/8|n.1301+28C>T||||||,A|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000498418|retained_intron|1/2|n.337+28C>T||||||,A|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000474515|processed_transcript|2/3|n.254+28C>T||||||,A|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000443310|protein_coding|8/9|c.961+28C>T||||||,A|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000493003|processed_transcript|2/3|n.316+28C>T|||||| 22 45595797 . C T . . ANN=T|sequence_feature|MODERATE|KIAA0930|ENSG00000100364|amino_acid_modification:Phosphoserine|ENST00000251993|protein_coding|8/10|c.987G>A||||||,T|sequence_feature|MODERATE|KIAA0930|ENSG00000100364|amino_acid_modification:Phosphoserine|ENST00000336156|protein_coding|8/10|c.972G>A||||||,T|synonymous_variant|LOW|KIAA0930|ENSG00000100364|transcript|ENST00000251993|protein_coding|8/10|c.987G>A|p.Ser329Ser|1132/2723|987/1230|329/409||,T|synonymous_variant|LOW|KIAA0930|ENSG00000100364|transcript|ENST00000336156|protein_coding|8/10|c.972G>A|p.Ser324Ser|1038/8119|972/1215|324/404||,T|synonymous_variant|LOW|KIAA0930|ENSG00000100364|transcript|ENST00000423262|protein_coding|6/8|c.627G>A|p.Ser209Ser|627/2218|627/870|209/289||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|KIAA0930|ENSG00000100364|transcript|ENST00000391627|protein_coding|8/10|c.870G>A|p.Ser290Ser|1032/2623|870/1113|290/370||,T|synonymous_variant|LOW|KIAA0930|ENSG00000100364|transcript|ENST00000443310|protein_coding|8/10|c.918G>A|p.Ser306Ser|1022/1363|918/1161|306/386||,T|upstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000483374|retained_intron||n.-1G>A|||||1883|,T|downstream_gene_variant|MODIFIER|MIR1249|ENSG00000221598|transcript|ENST00000408671|miRNA||n.*66G>A|||||1038|,T|downstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000440039|nonsense_mediated_decay||n.*213G>A|||||3215|,T|non_coding_exon_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000488038|retained_intron|7/9|n.1258G>A||||||,T|non_coding_exon_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000498418|retained_intron|1/3|n.294G>A||||||,T|non_coding_exon_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000474515|processed_transcript|2/4|n.211G>A||||||,T|non_coding_exon_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000493003|processed_transcript|2/4|n.273G>A|||||| 22 45595833 . G C . . ANN=C|synonymous_variant|LOW|KIAA0930|ENSG00000100364|transcript|ENST00000251993|protein_coding|8/10|c.951C>G|p.Pro317Pro|1096/2723|951/1230|317/409||,C|synonymous_variant|LOW|KIAA0930|ENSG00000100364|transcript|ENST00000336156|protein_coding|8/10|c.936C>G|p.Pro312Pro|1002/8119|936/1215|312/404||,C|synonymous_variant|LOW|KIAA0930|ENSG00000100364|transcript|ENST00000423262|protein_coding|6/8|c.591C>G|p.Pro197Pro|591/2218|591/870|197/289||WARNING_TRANSCRIPT_NO_START_CODON,C|synonymous_variant|LOW|KIAA0930|ENSG00000100364|transcript|ENST00000391627|protein_coding|8/10|c.834C>G|p.Pro278Pro|996/2623|834/1113|278/370||,C|synonymous_variant|LOW|KIAA0930|ENSG00000100364|transcript|ENST00000443310|protein_coding|8/10|c.882C>G|p.Pro294Pro|986/1363|882/1161|294/386||,C|upstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000483374|retained_intron||n.-1C>G|||||1919|,C|downstream_gene_variant|MODIFIER|MIR1249|ENSG00000221598|transcript|ENST00000408671|miRNA||n.*66C>G|||||1002|,C|downstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000440039|nonsense_mediated_decay||n.*213C>G|||||3179|,C|non_coding_exon_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000488038|retained_intron|7/9|n.1222C>G||||||,C|non_coding_exon_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000498418|retained_intron|1/3|n.258C>G||||||,C|non_coding_exon_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000474515|processed_transcript|2/4|n.175C>G||||||,C|non_coding_exon_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000493003|processed_transcript|2/4|n.237C>G|||||| 22 45595872 . C A . . ANN=A|synonymous_variant|LOW|KIAA0930|ENSG00000100364|transcript|ENST00000251993|protein_coding|8/10|c.912G>T|p.Arg304Arg|1057/2723|912/1230|304/409||,A|synonymous_variant|LOW|KIAA0930|ENSG00000100364|transcript|ENST00000336156|protein_coding|8/10|c.897G>T|p.Arg299Arg|963/8119|897/1215|299/404||,A|synonymous_variant|LOW|KIAA0930|ENSG00000100364|transcript|ENST00000423262|protein_coding|6/8|c.552G>T|p.Arg184Arg|552/2218|552/870|184/289||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|KIAA0930|ENSG00000100364|transcript|ENST00000391627|protein_coding|8/10|c.795G>T|p.Arg265Arg|957/2623|795/1113|265/370||,A|synonymous_variant|LOW|KIAA0930|ENSG00000100364|transcript|ENST00000443310|protein_coding|8/10|c.843G>T|p.Arg281Arg|947/1363|843/1161|281/386||,A|upstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000483374|retained_intron||n.-1G>T|||||1958|,A|downstream_gene_variant|MODIFIER|MIR1249|ENSG00000221598|transcript|ENST00000408671|miRNA||n.*66G>T|||||963|,A|downstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000440039|nonsense_mediated_decay||n.*213G>T|||||3140|,A|non_coding_exon_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000488038|retained_intron|7/9|n.1183G>T||||||,A|non_coding_exon_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000498418|retained_intron|1/3|n.219G>T||||||,A|non_coding_exon_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000474515|processed_transcript|2/4|n.136G>T||||||,A|non_coding_exon_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000493003|processed_transcript|2/4|n.198G>T|||||| 22 45595882 . C T . . ANN=T|missense_variant|MODERATE|KIAA0930|ENSG00000100364|transcript|ENST00000251993|protein_coding|8/10|c.902G>A|p.Arg301Gln|1047/2723|902/1230|301/409||,T|missense_variant|MODERATE|KIAA0930|ENSG00000100364|transcript|ENST00000336156|protein_coding|8/10|c.887G>A|p.Arg296Gln|953/8119|887/1215|296/404||,T|missense_variant|MODERATE|KIAA0930|ENSG00000100364|transcript|ENST00000423262|protein_coding|6/8|c.542G>A|p.Arg181Gln|542/2218|542/870|181/289||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|KIAA0930|ENSG00000100364|transcript|ENST00000391627|protein_coding|8/10|c.785G>A|p.Arg262Gln|947/2623|785/1113|262/370||,T|missense_variant|MODERATE|KIAA0930|ENSG00000100364|transcript|ENST00000443310|protein_coding|8/10|c.833G>A|p.Arg278Gln|937/1363|833/1161|278/386||,T|upstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000483374|retained_intron||n.-1G>A|||||1968|,T|downstream_gene_variant|MODIFIER|MIR1249|ENSG00000221598|transcript|ENST00000408671|miRNA||n.*66G>A|||||953|,T|downstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000440039|nonsense_mediated_decay||n.*213G>A|||||3130|,T|non_coding_exon_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000488038|retained_intron|7/9|n.1173G>A||||||,T|non_coding_exon_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000498418|retained_intron|1/3|n.209G>A||||||,T|non_coding_exon_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000474515|processed_transcript|2/4|n.126G>A||||||,T|non_coding_exon_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000493003|processed_transcript|2/4|n.188G>A|||||| 22 45595946 . T C . . ANN=C|upstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000483374|retained_intron||n.-1A>G|||||2032|,C|downstream_gene_variant|MODIFIER|MIR1249|ENSG00000221598|transcript|ENST00000408671|miRNA||n.*66A>G|||||889|,C|downstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000440039|nonsense_mediated_decay||n.*213A>G|||||3066|,C|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000251993|protein_coding|7/9|c.868-30A>G||||||,C|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000336156|protein_coding|7/9|c.853-30A>G||||||,C|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000423262|protein_coding|5/7|c.508-30A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000391627|protein_coding|7/9|c.751-30A>G||||||,C|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000488038|retained_intron|6/8|n.1139-30A>G||||||,C|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000474515|processed_transcript|1/3|n.92-30A>G||||||,C|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000443310|protein_coding|7/9|c.799-30A>G||||||,C|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000493003|processed_transcript|1/3|n.154-30A>G||||||,C|non_coding_exon_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000498418|retained_intron|1/3|n.145A>G|||||| 22 45595949 . C T . . ANN=T|upstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000483374|retained_intron||n.-1G>A|||||2035|,T|downstream_gene_variant|MODIFIER|MIR1249|ENSG00000221598|transcript|ENST00000408671|miRNA||n.*66G>A|||||886|,T|downstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000440039|nonsense_mediated_decay||n.*213G>A|||||3063|,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000251993|protein_coding|7/9|c.868-33G>A||||||,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000336156|protein_coding|7/9|c.853-33G>A||||||,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000423262|protein_coding|5/7|c.508-33G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000391627|protein_coding|7/9|c.751-33G>A||||||,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000488038|retained_intron|6/8|n.1139-33G>A||||||,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000474515|processed_transcript|1/3|n.92-33G>A||||||,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000443310|protein_coding|7/9|c.799-33G>A||||||,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000493003|processed_transcript|1/3|n.154-33G>A||||||,T|non_coding_exon_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000498418|retained_intron|1/3|n.142G>A|||||| 22 45595963 . C T . . ANN=T|upstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000483374|retained_intron||n.-1G>A|||||2049|,T|downstream_gene_variant|MODIFIER|MIR1249|ENSG00000221598|transcript|ENST00000408671|miRNA||n.*66G>A|||||872|,T|downstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000440039|nonsense_mediated_decay||n.*213G>A|||||3049|,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000251993|protein_coding|7/9|c.868-47G>A||||||,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000336156|protein_coding|7/9|c.853-47G>A||||||,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000423262|protein_coding|5/7|c.508-47G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000391627|protein_coding|7/9|c.751-47G>A||||||,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000488038|retained_intron|6/8|n.1139-47G>A||||||,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000474515|processed_transcript|1/3|n.92-47G>A||||||,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000443310|protein_coding|7/9|c.799-47G>A||||||,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000493003|processed_transcript|1/3|n.154-47G>A||||||,T|non_coding_exon_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000498418|retained_intron|1/3|n.128G>A|||||| 22 45598833 . C T . . ANN=T|upstream_gene_variant|MODIFIER|MIR1249|ENSG00000221598|transcript|ENST00000408671|miRNA||n.-1G>A|||||1933|,T|upstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000483374|retained_intron||n.-1G>A|||||4919|,T|upstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000498418|retained_intron||n.-1G>A|||||2743|,T|upstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000474515|processed_transcript||n.-1G>A|||||268|,T|upstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000493003|processed_transcript||n.-1G>A|||||237|,T|downstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000440039|nonsense_mediated_decay||n.*213G>A|||||179|,T|downstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000414854|protein_coding||c.*556G>A|||||2269|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000424508|protein_coding||c.*625G>A|||||2271|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000486640|processed_transcript||n.*574G>A|||||2308|,T|downstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000417906|nonsense_mediated_decay||n.*294G>A|||||2932|,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000251993|protein_coding|7/9|c.867+38G>A||||||,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000336156|protein_coding|7/9|c.852+38G>A||||||,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000423262|protein_coding|5/7|c.507+38G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000391627|protein_coding|7/9|c.750+38G>A||||||,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000488038|retained_intron|6/8|n.1138+38G>A||||||,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000443310|protein_coding|7/9|c.798+38G>A|||||| 22 45599054 . G A . . ANN=A|synonymous_variant|LOW|KIAA0930|ENSG00000100364|transcript|ENST00000251993|protein_coding|7/10|c.684C>T|p.Ala228Ala|829/2723|684/1230|228/409||,A|synonymous_variant|LOW|KIAA0930|ENSG00000100364|transcript|ENST00000336156|protein_coding|7/10|c.669C>T|p.Ala223Ala|735/8119|669/1215|223/404||,A|synonymous_variant|LOW|KIAA0930|ENSG00000100364|transcript|ENST00000423262|protein_coding|5/8|c.324C>T|p.Ala108Ala|324/2218|324/870|108/289||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|KIAA0930|ENSG00000100364|transcript|ENST00000391627|protein_coding|7/10|c.567C>T|p.Ala189Ala|729/2623|567/1113|189/370||,A|synonymous_variant|LOW|KIAA0930|ENSG00000100364|transcript|ENST00000443310|protein_coding|7/10|c.615C>T|p.Ala205Ala|719/1363|615/1161|205/386||,A|3_prime_UTR_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000440039|nonsense_mediated_decay|7/7|n.*566C>T|||||4513|,A|upstream_gene_variant|MODIFIER|MIR1249|ENSG00000221598|transcript|ENST00000408671|miRNA||n.-1C>T|||||2154|,A|upstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000498418|retained_intron||n.-1C>T|||||2964|,A|upstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000474515|processed_transcript||n.-1C>T|||||489|,A|upstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000493003|processed_transcript||n.-1C>T|||||458|,A|downstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000414854|protein_coding||c.*556C>T|||||2048|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000424508|protein_coding||c.*625C>T|||||2050|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000486640|processed_transcript||n.*574C>T|||||2087|,A|downstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000417906|nonsense_mediated_decay||n.*294C>T|||||2711|,A|non_coding_exon_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000488038|retained_intron|6/9|n.955C>T||||||,A|non_coding_exon_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000440039|nonsense_mediated_decay|7/7|n.*566C>T|||||| 22 45599099 . A G . . ANN=G|upstream_gene_variant|MODIFIER|MIR1249|ENSG00000221598|transcript|ENST00000408671|miRNA||n.-1T>C|||||2199|,G|upstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000498418|retained_intron||n.-1T>C|||||3009|,G|upstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000474515|processed_transcript||n.-1T>C|||||534|,G|upstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000493003|processed_transcript||n.-1T>C|||||503|,G|downstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000414854|protein_coding||c.*556T>C|||||2003|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000424508|protein_coding||c.*625T>C|||||2005|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000486640|processed_transcript||n.*574T>C|||||2042|,G|downstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000417906|nonsense_mediated_decay||n.*294T>C|||||2666|,G|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000251993|protein_coding|6/9|c.673-34T>C||||||,G|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000336156|protein_coding|6/9|c.658-34T>C||||||,G|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000423262|protein_coding|4/7|c.313-34T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000391627|protein_coding|6/9|c.556-34T>C||||||,G|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000488038|retained_intron|5/8|n.944-34T>C||||||,G|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000443310|protein_coding|6/9|c.604-34T>C||||||,G|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000440039|nonsense_mediated_decay|6/6|n.*555-34T>C|||||| 22 45599712 . C T . . ANN=T|upstream_gene_variant|MODIFIER|MIR1249|ENSG00000221598|transcript|ENST00000408671|miRNA||n.-1G>A|||||2812|,T|upstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000498418|retained_intron||n.-1G>A|||||3622|,T|upstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000474515|processed_transcript||n.-1G>A|||||1147|,T|upstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000493003|processed_transcript||n.-1G>A|||||1116|,T|downstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000414854|protein_coding||c.*556G>A|||||1390|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000424508|protein_coding||c.*625G>A|||||1392|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000486640|processed_transcript||n.*574G>A|||||1429|,T|downstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000417906|nonsense_mediated_decay||n.*294G>A|||||2053|,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000251993|protein_coding|6/9|c.672+14G>A||||||,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000336156|protein_coding|6/9|c.657+14G>A||||||,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000423262|protein_coding|4/7|c.312+14G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000391627|protein_coding|6/9|c.555+14G>A||||||,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000488038|retained_intron|5/8|n.943+14G>A||||||,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000443310|protein_coding|6/9|c.603+14G>A||||||,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000440039|nonsense_mediated_decay|6/6|n.*554+14G>A|||||| 22 45601214 . AT A . . ANN=|upstream_gene_variant|MODIFIER|MIR1249|ENSG00000221598|transcript|ENST00000408671|miRNA||n.-1delA|||||4315|,|upstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000474515|processed_transcript||n.-1delA|||||2650|,|upstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000493003|processed_transcript||n.-1delA|||||2619|,|downstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000417906|nonsense_mediated_decay||n.*294delA|||||550|,|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000251993|protein_coding|4/9|c.430-16delA||||||,|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000336156|protein_coding|4/9|c.415-16delA||||||,|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000423262|protein_coding|2/7|c.70-16delA||||||WARNING_TRANSCRIPT_NO_START_CODON,|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000391627|protein_coding|4/9|c.313-16delA||||||,|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000488038|retained_intron|3/8|n.701-16delA||||||,|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000443310|protein_coding|4/9|c.361-16delA||||||,|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000440039|nonsense_mediated_decay|4/6|n.*312-16delA||||||,|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000414854|protein_coding|4/4|c.313-16delA||||||WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000424508|protein_coding|4/4|c.361-16delA||||||WARNING_TRANSCRIPT_NO_STOP_CODON,|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000486640|processed_transcript|4/4|n.516-16delA|||||| 22 45601611 . G A . . ANN=A|upstream_gene_variant|MODIFIER|MIR1249|ENSG00000221598|transcript|ENST00000408671|miRNA||n.-1C>T|||||4711|,A|upstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000474515|processed_transcript||n.-1C>T|||||3046|,A|upstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000493003|processed_transcript||n.-1C>T|||||3015|,A|downstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000417906|nonsense_mediated_decay||n.*294C>T|||||154|,A|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000251993|protein_coding|3/9|c.352-23C>T||||||,A|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000336156|protein_coding|3/9|c.337-23C>T||||||,A|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000423262|protein_coding|1/7|c.57+63C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000391627|protein_coding|3/9|c.235-23C>T||||||,A|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000488038|retained_intron|2/8|n.623-23C>T||||||,A|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000443310|protein_coding|3/9|c.283-23C>T||||||,A|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000440039|nonsense_mediated_decay|3/6|n.*234-23C>T||||||,A|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000414854|protein_coding|3/4|c.235-23C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000424508|protein_coding|3/4|c.283-23C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000486640|processed_transcript|3/4|n.438-23C>T|||||| 22 45601715 . C T . . ANN=T|missense_variant|MODERATE|KIAA0930|ENSG00000100364|transcript|ENST00000251993|protein_coding|3/10|c.310G>A|p.Asp104Asn|455/2723|310/1230|104/409||,T|missense_variant|MODERATE|KIAA0930|ENSG00000100364|transcript|ENST00000336156|protein_coding|3/10|c.295G>A|p.Asp99Asn|361/8119|295/1215|99/404||,T|missense_variant|MODERATE|KIAA0930|ENSG00000100364|transcript|ENST00000423262|protein_coding|1/8|c.16G>A|p.Asp6Asn|16/2218|16/870|6/289||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|KIAA0930|ENSG00000100364|transcript|ENST00000391627|protein_coding|3/10|c.193G>A|p.Asp65Asn|355/2623|193/1113|65/370||,T|missense_variant|MODERATE|KIAA0930|ENSG00000100364|transcript|ENST00000443310|protein_coding|3/10|c.241G>A|p.Asp81Asn|345/1363|241/1161|81/386||,T|missense_variant|MODERATE|KIAA0930|ENSG00000100364|transcript|ENST00000414854|protein_coding|3/5|c.193G>A|p.Asp65Asn|339/556|193/410|65/135||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|KIAA0930|ENSG00000100364|transcript|ENST00000424508|protein_coding|3/5|c.241G>A|p.Asp81Asn|410/625|241/456|81/151||WARNING_TRANSCRIPT_NO_STOP_CODON,T|3_prime_UTR_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000440039|nonsense_mediated_decay|3/7|n.*192G>A|||||1852|,T|upstream_gene_variant|MODIFIER|MIR1249|ENSG00000221598|transcript|ENST00000408671|miRNA||n.-1G>A|||||4815|,T|upstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000474515|processed_transcript||n.-1G>A|||||3150|,T|upstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000493003|processed_transcript||n.-1G>A|||||3119|,T|downstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000417906|nonsense_mediated_decay||n.*294G>A|||||50|,T|non_coding_exon_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000488038|retained_intron|2/9|n.581G>A||||||,T|non_coding_exon_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000440039|nonsense_mediated_decay|3/7|n.*192G>A||||||,T|non_coding_exon_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000486640|processed_transcript|3/5|n.396G>A|||||| 22 45607855 . G A . . ANN=A|synonymous_variant|LOW|KIAA0930|ENSG00000100364|transcript|ENST00000251993|protein_coding|2/10|c.213C>T|p.Ser71Ser|358/2723|213/1230|71/409||,A|synonymous_variant|LOW|KIAA0930|ENSG00000100364|transcript|ENST00000336156|protein_coding|2/10|c.198C>T|p.Ser66Ser|264/8119|198/1215|66/404||,A|synonymous_variant|LOW|KIAA0930|ENSG00000100364|transcript|ENST00000391627|protein_coding|2/10|c.96C>T|p.Ser32Ser|258/2623|96/1113|32/370||,A|synonymous_variant|LOW|KIAA0930|ENSG00000100364|transcript|ENST00000443310|protein_coding|2/10|c.144C>T|p.Ser48Ser|248/1363|144/1161|48/386||,A|synonymous_variant|LOW|KIAA0930|ENSG00000100364|transcript|ENST00000414854|protein_coding|2/5|c.96C>T|p.Ser32Ser|242/556|96/410|32/135||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|KIAA0930|ENSG00000100364|transcript|ENST00000424508|protein_coding|2/5|c.144C>T|p.Ser48Ser|313/625|144/456|48/151||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|KIAA0930|ENSG00000100364|transcript|ENST00000496226|protein_coding|1/2|c.225C>T|p.Ser75Ser|472/589|225/270|75/89||,A|synonymous_variant|LOW|KIAA0930|ENSG00000100364|transcript|ENST00000492273|protein_coding|2/3|c.213C>T|p.Ser71Ser|287/403|213/258|71/85||,A|3_prime_UTR_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000417906|nonsense_mediated_decay|3/4|n.*175C>T|||||14219|,A|non_coding_exon_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000488038|retained_intron|1/9|n.484C>T||||||,A|non_coding_exon_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000440039|nonsense_mediated_decay|1/7|n.108C>T||||||,A|non_coding_exon_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000486640|processed_transcript|2/5|n.299C>T||||||,A|non_coding_exon_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000417906|nonsense_mediated_decay|3/4|n.*175C>T|||||| 22 45608096 . G T . . ANN=T|5_prime_UTR_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000496226|protein_coding|1/2|c.-17C>A|||||17|,T|upstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000440039|nonsense_mediated_decay||n.-1C>A|||||134|,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000251993|protein_coding|1/9|c.79+50C>A||||||,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000336156|protein_coding|1/9|c.65-108C>A||||||,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000391627|protein_coding|1/9|c.-38-108C>A||||||,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000443310|protein_coding|1/9|c.11-108C>A||||||,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000414854|protein_coding|1/4|c.-38-108C>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000424508|protein_coding|1/4|c.11-108C>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000486640|processed_transcript|1/4|n.166-108C>A||||||,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000417906|nonsense_mediated_decay|2/3|n.*42-108C>A||||||,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000492273|protein_coding|1/2|c.79+50C>A||||||,T|non_coding_exon_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000488038|retained_intron|1/9|n.243C>A|||||| 22 45608136 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000496226|protein_coding|1/2|c.-57G>A|||||57|,T|upstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000440039|nonsense_mediated_decay||n.-1G>A|||||174|,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000251993|protein_coding|1/9|c.79+10G>A||||||,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000336156|protein_coding|1/9|c.65-148G>A||||||,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000391627|protein_coding|1/9|c.-38-148G>A||||||,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000443310|protein_coding|1/9|c.11-148G>A||||||,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000414854|protein_coding|1/4|c.-38-148G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000424508|protein_coding|1/4|c.11-148G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000486640|processed_transcript|1/4|n.166-148G>A||||||,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000417906|nonsense_mediated_decay|2/3|n.*42-148G>A||||||,T|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000492273|protein_coding|1/2|c.79+10G>A||||||,T|non_coding_exon_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000488038|retained_intron|1/9|n.203G>A|||||| 22 45608192 . G A . . ANN=A|synonymous_variant|LOW|KIAA0930|ENSG00000100364|transcript|ENST00000251993|protein_coding|1/10|c.33C>T|p.Asn11Asn|178/2723|33/1230|11/409||,A|synonymous_variant|LOW|KIAA0930|ENSG00000100364|transcript|ENST00000492273|protein_coding|1/3|c.33C>T|p.Asn11Asn|107/403|33/258|11/85||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|KIAA0930|ENSG00000100364|transcript|ENST00000496226|protein_coding|1/2|c.-113C>T||||||,A|5_prime_UTR_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000496226|protein_coding|1/2|c.-113C>T|||||113|,A|upstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000440039|nonsense_mediated_decay||n.-1C>T|||||230|,A|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000336156|protein_coding|1/9|c.65-204C>T||||||,A|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000391627|protein_coding|1/9|c.-38-204C>T||||||,A|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000443310|protein_coding|1/9|c.11-204C>T||||||,A|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000414854|protein_coding|1/4|c.-38-204C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000424508|protein_coding|1/4|c.11-204C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000486640|processed_transcript|1/4|n.166-204C>T||||||,A|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000417906|nonsense_mediated_decay|2/3|n.*42-204C>T||||||,A|non_coding_exon_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000488038|retained_intron|1/9|n.147C>T|||||| 22 45608215 . G A . . ANN=A|stop_gained|HIGH|KIAA0930|ENSG00000100364|transcript|ENST00000251993|protein_coding|1/10|c.10C>T|p.Gln4*|155/2723|10/1230|4/409||,A|stop_gained|HIGH|KIAA0930|ENSG00000100364|transcript|ENST00000492273|protein_coding|1/3|c.10C>T|p.Gln4*|84/403|10/258|4/85||,A|5_prime_UTR_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000496226|protein_coding|1/2|c.-136C>T|||||136|,A|upstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000440039|nonsense_mediated_decay||n.-1C>T|||||253|,A|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000336156|protein_coding|1/9|c.65-227C>T||||||,A|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000391627|protein_coding|1/9|c.-38-227C>T||||||,A|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000443310|protein_coding|1/9|c.11-227C>T||||||,A|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000414854|protein_coding|1/4|c.-38-227C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000424508|protein_coding|1/4|c.11-227C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000486640|processed_transcript|1/4|n.166-227C>T||||||,A|intron_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000417906|nonsense_mediated_decay|2/3|n.*42-227C>T||||||,A|non_coding_exon_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000488038|retained_intron|1/9|n.124C>T||||||;LOF=(KIAA0930|ENSG00000100364|17|0.12);NMD=(KIAA0930|ENSG00000100364|17|0.12) 22 45680870 . G C . . ANN=C|5_prime_UTR_variant|MODIFIER|UPK3A|ENSG00000100373|transcript|ENST00000216211|protein_coding|1/6|c.-25G>C|||||25|,C|upstream_gene_variant|MODIFIER|UPK3A|ENSG00000100373|transcript|ENST00000396082|protein_coding||c.-24G>C|||||2| 22 45681841 . A G . . ANN=G|synonymous_variant|LOW|UPK3A|ENSG00000100373|transcript|ENST00000216211|protein_coding|2/6|c.72A>G|p.Gln24Gln|104/1051|72/864|24/287||,G|synonymous_variant|LOW|UPK3A|ENSG00000100373|transcript|ENST00000396082|protein_coding|2/4|c.72A>G|p.Gln24Gln|95/627|72/501|24/166||,G|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|5/6|c.72A>G||||||,G|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|2/6|c.72A>G||||||,G|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|4/6|c.72A>G||||||,G|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|3/6|c.72A>G|||||| 22 45681859 . C T . . ANN=T|synonymous_variant|LOW|UPK3A|ENSG00000100373|transcript|ENST00000216211|protein_coding|2/6|c.90C>T|p.Phe30Phe|122/1051|90/864|30/287||,T|synonymous_variant|LOW|UPK3A|ENSG00000100373|transcript|ENST00000396082|protein_coding|2/4|c.90C>T|p.Phe30Phe|113/627|90/501|30/166||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|5/6|c.90C>T||||||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|2/6|c.90C>T||||||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|4/6|c.90C>T||||||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|3/6|c.90C>T|||||| 22 45681947 . G A . . ANN=A|missense_variant|MODERATE|UPK3A|ENSG00000100373|transcript|ENST00000216211|protein_coding|2/6|c.178G>A|p.Glu60Lys|210/1051|178/864|60/287||,A|missense_variant|MODERATE|UPK3A|ENSG00000100373|transcript|ENST00000396082|protein_coding|2/4|c.178G>A|p.Glu60Lys|201/627|178/501|60/166||,A|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|5/6|c.178G>A||||||,A|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|2/6|c.178G>A||||||,A|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|4/6|c.178G>A||||||,A|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|3/6|c.178G>A|||||| 22 45681971 . G A . . ANN=A|missense_variant|MODERATE|UPK3A|ENSG00000100373|transcript|ENST00000216211|protein_coding|2/6|c.202G>A|p.Asp68Asn|234/1051|202/864|68/287||,A|missense_variant|MODERATE|UPK3A|ENSG00000100373|transcript|ENST00000396082|protein_coding|2/4|c.202G>A|p.Asp68Asn|225/627|202/501|68/166||,A|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|5/6|c.202G>A||||||,A|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|2/6|c.202G>A||||||,A|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|4/6|c.202G>A||||||,A|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|3/6|c.202G>A|||||| 22 45682007 . C T . . ANN=T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|5/6|c.208+30C>T||||||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|2/6|c.208+30C>T||||||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|4/6|c.208+30C>T||||||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|3/6|c.208+30C>T||||||,T|intron_variant|MODIFIER|UPK3A|ENSG00000100373|transcript|ENST00000216211|protein_coding|2/5|c.208+30C>T||||||,T|intron_variant|MODIFIER|UPK3A|ENSG00000100373|transcript|ENST00000396082|protein_coding|2/3|c.208+30C>T|||||| 22 45683012 . C T . . ANN=T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|5/6|c.209-41C>T||||||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|2/6|c.209-41C>T||||||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|4/6|c.209-41C>T||||||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|3/6|c.209-41C>T||||||,T|intron_variant|MODIFIER|UPK3A|ENSG00000100373|transcript|ENST00000216211|protein_coding|2/5|c.209-41C>T||||||,T|intron_variant|MODIFIER|UPK3A|ENSG00000100373|transcript|ENST00000396082|protein_coding|2/3|c.208+1035C>T|||||| 22 45683036 . C G . . ANN=G|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|5/6|c.209-17C>G||||||,G|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|2/6|c.209-17C>G||||||,G|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|4/6|c.209-17C>G||||||,G|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|3/6|c.209-17C>G||||||,G|intron_variant|MODIFIER|UPK3A|ENSG00000100373|transcript|ENST00000216211|protein_coding|2/5|c.209-17C>G||||||,G|intron_variant|MODIFIER|UPK3A|ENSG00000100373|transcript|ENST00000396082|protein_coding|2/3|c.208+1059C>G|||||| 22 45683042 . C T . . ANN=T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|5/6|c.209-11C>T||||||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|2/6|c.209-11C>T||||||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|4/6|c.209-11C>T||||||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|3/6|c.209-11C>T||||||,T|intron_variant|MODIFIER|UPK3A|ENSG00000100373|transcript|ENST00000216211|protein_coding|2/5|c.209-11C>T||||||,T|intron_variant|MODIFIER|UPK3A|ENSG00000100373|transcript|ENST00000396082|protein_coding|2/3|c.208+1065C>T|||||| 22 45683103 . T G . . ANN=G|missense_variant|MODERATE|UPK3A|ENSG00000100373|transcript|ENST00000216211|protein_coding|3/6|c.259T>G|p.Ser87Ala|291/1051|259/864|87/287||,G|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|5/6|c.259T>G||||||,G|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|2/6|c.259T>G||||||,G|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|4/6|c.259T>G||||||,G|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|3/6|c.259T>G||||||,G|intron_variant|MODIFIER|UPK3A|ENSG00000100373|transcript|ENST00000396082|protein_coding|2/3|c.208+1126T>G|||||| 22 45683104 . C A . . ANN=A|stop_gained|HIGH|UPK3A|ENSG00000100373|transcript|ENST00000216211|protein_coding|3/6|c.260C>A|p.Ser87*|292/1051|260/864|87/287||,A|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|5/6|c.260C>A||||||,A|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|2/6|c.260C>A||||||,A|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|4/6|c.260C>A||||||,A|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|3/6|c.260C>A||||||,A|intron_variant|MODIFIER|UPK3A|ENSG00000100373|transcript|ENST00000396082|protein_coding|2/3|c.208+1127C>A||||||;LOF=(UPK3A|ENSG00000100373|2|0.50);NMD=(UPK3A|ENSG00000100373|2|0.50) 22 45683116 . A T . . ANN=T|missense_variant|MODERATE|UPK3A|ENSG00000100373|transcript|ENST00000216211|protein_coding|3/6|c.272A>T|p.Gln91Leu|304/1051|272/864|91/287||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|5/6|c.272A>T||||||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|2/6|c.272A>T||||||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|4/6|c.272A>T||||||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|3/6|c.272A>T||||||,T|intron_variant|MODIFIER|UPK3A|ENSG00000100373|transcript|ENST00000396082|protein_coding|2/3|c.208+1139A>T|||||| 22 45683200 . T C . . ANN=C|missense_variant|MODERATE|UPK3A|ENSG00000100373|transcript|ENST00000216211|protein_coding|3/6|c.356T>C|p.Ile119Thr|388/1051|356/864|119/287||,C|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|5/6|c.356T>C||||||,C|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|2/6|c.356T>C||||||,C|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|4/6|c.356T>C||||||,C|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|3/6|c.356T>C||||||,C|intron_variant|MODIFIER|UPK3A|ENSG00000100373|transcript|ENST00000396082|protein_coding|2/3|c.208+1223T>C|||||| 22 45683246 . C T . . ANN=T|synonymous_variant|LOW|UPK3A|ENSG00000100373|transcript|ENST00000216211|protein_coding|3/6|c.402C>T|p.Val134Val|434/1051|402/864|134/287||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|5/6|c.402C>T||||||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|2/6|c.402C>T||||||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|4/6|c.402C>T||||||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|3/6|c.402C>T||||||,T|intron_variant|MODIFIER|UPK3A|ENSG00000100373|transcript|ENST00000396082|protein_coding|2/3|c.208+1269C>T|||||| 22 45683280 . C T . . ANN=T|missense_variant|MODERATE|UPK3A|ENSG00000100373|transcript|ENST00000216211|protein_coding|3/6|c.436C>T|p.Pro146Ser|468/1051|436/864|146/287||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|5/6|c.436C>T||||||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|2/6|c.436C>T||||||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|4/6|c.436C>T||||||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|3/6|c.436C>T||||||,T|intron_variant|MODIFIER|UPK3A|ENSG00000100373|transcript|ENST00000396082|protein_coding|2/3|c.208+1303C>T|||||| 22 45683291 . G C . . ANN=C|missense_variant|MODERATE|UPK3A|ENSG00000100373|transcript|ENST00000216211|protein_coding|3/6|c.447G>C|p.Gln149His|479/1051|447/864|149/287||,C|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|5/6|c.447G>C||||||,C|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|2/6|c.447G>C||||||,C|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|4/6|c.447G>C||||||,C|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|3/6|c.447G>C||||||,C|intron_variant|MODIFIER|UPK3A|ENSG00000100373|transcript|ENST00000396082|protein_coding|2/3|c.208+1314G>C|||||| 22 45683304 . G C . . ANN=C|missense_variant|MODERATE|UPK3A|ENSG00000100373|transcript|ENST00000216211|protein_coding|3/6|c.460G>C|p.Ala154Pro|492/1051|460/864|154/287||,C|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|5/6|c.460G>C||||||,C|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|2/6|c.460G>C||||||,C|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|4/6|c.460G>C||||||,C|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|3/6|c.460G>C||||||,C|intron_variant|MODIFIER|UPK3A|ENSG00000100373|transcript|ENST00000396082|protein_coding|2/3|c.208+1327G>C|||||| 22 45683306 . AC A . . ANN=|frameshift_variant|HIGH|UPK3A|ENSG00000100373|transcript|ENST00000216211|protein_coding|3/6|c.466delC|p.Leu156fs|498/1051|466/864|156/287||INFO_REALIGN_3_PRIME,|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|5/6|c.463delC||||||,|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|2/6|c.463delC||||||,|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|4/6|c.463delC||||||,|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|3/6|c.463delC||||||,|intron_variant|MODIFIER|UPK3A|ENSG00000100373|transcript|ENST00000396082|protein_coding|2/3|c.208+1333delC||||||INFO_REALIGN_3_PRIME;LOF=(UPK3A|ENSG00000100373|2|0.50) 22 45683309 . C T . . ANN=T|synonymous_variant|LOW|UPK3A|ENSG00000100373|transcript|ENST00000216211|protein_coding|3/6|c.465C>T|p.Pro155Pro|497/1051|465/864|155/287||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|5/6|c.465C>T||||||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|2/6|c.465C>T||||||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|4/6|c.465C>T||||||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|3/6|c.465C>T||||||,T|intron_variant|MODIFIER|UPK3A|ENSG00000100373|transcript|ENST00000396082|protein_coding|2/3|c.208+1332C>T|||||| 22 45683363 . C T . . ANN=T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|5/6|c.488+31C>T||||||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|2/6|c.488+31C>T||||||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|4/6|c.488+31C>T||||||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|3/6|c.488+31C>T||||||,T|intron_variant|MODIFIER|UPK3A|ENSG00000100373|transcript|ENST00000216211|protein_coding|3/5|c.488+31C>T||||||,T|intron_variant|MODIFIER|UPK3A|ENSG00000100373|transcript|ENST00000396082|protein_coding|2/3|c.208+1386C>T|||||| 22 45684894 . G A . . ANN=A|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|5/6|c.489-48G>A||||||,A|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|2/6|c.489-48G>A||||||,A|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|4/6|c.489-48G>A||||||,A|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|3/6|c.489-48G>A||||||,A|intron_variant|MODIFIER|UPK3A|ENSG00000100373|transcript|ENST00000216211|protein_coding|3/5|c.489-48G>A||||||,A|intron_variant|MODIFIER|UPK3A|ENSG00000100373|transcript|ENST00000396082|protein_coding|2/3|c.208+2917G>A|||||| 22 45684929 . C T . . ANN=T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|5/6|c.489-13C>T||||||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|2/6|c.489-13C>T||||||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|4/6|c.489-13C>T||||||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|3/6|c.489-13C>T||||||,T|intron_variant|MODIFIER|UPK3A|ENSG00000100373|transcript|ENST00000216211|protein_coding|3/5|c.489-13C>T||||||,T|intron_variant|MODIFIER|UPK3A|ENSG00000100373|transcript|ENST00000396082|protein_coding|2/3|c.208+2952C>T|||||| 22 45684998 . G A . . ANN=A|stop_gained|HIGH|UPK3A|ENSG00000100373|transcript|ENST00000216211|protein_coding|4/6|c.545G>A|p.Trp182*|577/1051|545/864|182/287||,A|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|5/6|c.545G>A||||||,A|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|2/6|c.545G>A||||||,A|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|4/6|c.545G>A||||||,A|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|3/6|c.545G>A||||||,A|intron_variant|MODIFIER|UPK3A|ENSG00000100373|transcript|ENST00000396082|protein_coding|2/3|c.208+3021G>A||||||;LOF=(UPK3A|ENSG00000100373|2|0.50);NMD=(UPK3A|ENSG00000100373|2|0.50) 22 45685002 . A G . . ANN=G|synonymous_variant|LOW|UPK3A|ENSG00000100373|transcript|ENST00000216211|protein_coding|4/6|c.549A>G|p.Ser183Ser|581/1051|549/864|183/287||,G|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|5/6|c.549A>G||||||,G|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|2/6|c.549A>G||||||,G|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|4/6|c.549A>G||||||,G|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|3/6|c.549A>G||||||,G|intron_variant|MODIFIER|UPK3A|ENSG00000100373|transcript|ENST00000396082|protein_coding|2/3|c.208+3025A>G|||||| 22 45685024 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|UPK3A|ENSG00000100373|transcript|ENST00000216211|protein_coding|4/6|c.571C>T|p.Leu191Phe|603/1051|571/864|191/287||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|5/6|c.571C>T||||||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|2/6|c.571C>T||||||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|4/6|c.571C>T||||||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|3/6|c.571C>T||||||,T|intron_variant|MODIFIER|UPK3A|ENSG00000100373|transcript|ENST00000396082|protein_coding|2/3|c.208+3047C>T|||||| 22 45685025 . G A . . ANN=A|splice_donor_variant&intron_variant|HIGH|UPK3A|ENSG00000100373|transcript|ENST00000216211|protein_coding|4/5|c.571+1G>A||||||,A|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|5/6|c.571+1G>A||||||,A|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|2/6|c.571+1G>A||||||,A|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|4/6|c.571+1G>A||||||,A|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|3/6|c.571+1G>A||||||,A|intron_variant|MODIFIER|UPK3A|ENSG00000100373|transcript|ENST00000396082|protein_coding|2/3|c.208+3048G>A||||||;LOF=(UPK3A|ENSG00000100373|2|0.50) 22 45685074 . C T . . ANN=T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|5/6|c.571+50C>T||||||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|2/6|c.571+50C>T||||||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|4/6|c.571+50C>T||||||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|3/6|c.571+50C>T||||||,T|intron_variant|MODIFIER|UPK3A|ENSG00000100373|transcript|ENST00000216211|protein_coding|4/5|c.571+50C>T||||||,T|intron_variant|MODIFIER|UPK3A|ENSG00000100373|transcript|ENST00000396082|protein_coding|2/3|c.208+3097C>T|||||| 22 45689024 . C T . . ANN=T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|5/6|c.572-38C>T||||||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|2/6|c.572-38C>T||||||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|4/6|c.572-38C>T||||||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|3/6|c.572-38C>T||||||,T|intron_variant|MODIFIER|UPK3A|ENSG00000100373|transcript|ENST00000216211|protein_coding|4/5|c.572-38C>T||||||,T|intron_variant|MODIFIER|UPK3A|ENSG00000100373|transcript|ENST00000396082|protein_coding|2/3|c.209-38C>T|||||| 22 45689025 . G A . . ANN=A|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|5/6|c.572-37G>A||||||,A|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|2/6|c.572-37G>A||||||,A|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|4/6|c.572-37G>A||||||,A|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|3/6|c.572-37G>A||||||,A|intron_variant|MODIFIER|UPK3A|ENSG00000100373|transcript|ENST00000216211|protein_coding|4/5|c.572-37G>A||||||,A|intron_variant|MODIFIER|UPK3A|ENSG00000100373|transcript|ENST00000396082|protein_coding|2/3|c.209-37G>A|||||| 22 45689034 . G A . . ANN=A|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|5/6|c.572-28G>A||||||,A|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|2/6|c.572-28G>A||||||,A|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|4/6|c.572-28G>A||||||,A|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|3/6|c.572-28G>A||||||,A|intron_variant|MODIFIER|UPK3A|ENSG00000100373|transcript|ENST00000216211|protein_coding|4/5|c.572-28G>A||||||,A|intron_variant|MODIFIER|UPK3A|ENSG00000100373|transcript|ENST00000396082|protein_coding|2/3|c.209-28G>A|||||| 22 45689043 . G C . . ANN=C|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|5/6|c.572-19G>C||||||,C|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|2/6|c.572-19G>C||||||,C|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|4/6|c.572-19G>C||||||,C|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|3/6|c.572-19G>C||||||,C|intron_variant|MODIFIER|UPK3A|ENSG00000100373|transcript|ENST00000216211|protein_coding|4/5|c.572-19G>C||||||,C|intron_variant|MODIFIER|UPK3A|ENSG00000100373|transcript|ENST00000396082|protein_coding|2/3|c.209-19G>C|||||| 22 45689056 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|UPK3A|ENSG00000100373|transcript|ENST00000216211|protein_coding|4/5|c.572-6C>T||||||,T|splice_region_variant&intron_variant|LOW|UPK3A|ENSG00000100373|transcript|ENST00000396082|protein_coding|2/3|c.209-6C>T||||||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|5/6|c.572-6C>T||||||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|2/6|c.572-6C>T||||||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|4/6|c.572-6C>T||||||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|3/6|c.572-6C>T|||||| 22 45689078 . G A . . ANN=A|synonymous_variant|LOW|UPK3A|ENSG00000100373|transcript|ENST00000216211|protein_coding|5/6|c.588G>A|p.Thr196Thr|620/1051|588/864|196/287||,A|synonymous_variant|LOW|UPK3A|ENSG00000100373|transcript|ENST00000396082|protein_coding|3/4|c.225G>A|p.Thr75Thr|248/627|225/501|75/166||,A|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|5/6|c.588G>A||||||,A|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|2/6|c.588G>A||||||,A|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|4/6|c.588G>A||||||,A|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|3/6|c.588G>A|||||| 22 45689097 . C A . . ANN=A|synonymous_variant|LOW|UPK3A|ENSG00000100373|transcript|ENST00000216211|protein_coding|5/6|c.607C>A|p.Arg203Arg|639/1051|607/864|203/287||,A|synonymous_variant|LOW|UPK3A|ENSG00000100373|transcript|ENST00000396082|protein_coding|3/4|c.244C>A|p.Arg82Arg|267/627|244/501|82/166||,A|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|5/6|c.607C>A||||||,A|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|2/6|c.607C>A||||||,A|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|4/6|c.607C>A||||||,A|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|3/6|c.607C>A|||||| 22 45689118 . G A . . ANN=A|missense_variant|MODERATE|UPK3A|ENSG00000100373|transcript|ENST00000216211|protein_coding|5/6|c.628G>A|p.Val210Ile|660/1051|628/864|210/287||,A|missense_variant|MODERATE|UPK3A|ENSG00000100373|transcript|ENST00000396082|protein_coding|3/4|c.265G>A|p.Val89Ile|288/627|265/501|89/166||,A|sequence_feature|LOW|UPK3A|ENSG00000100373|transmembrane_region:Transmembrane_region|ENST00000216211|protein_coding|5/6|c.628G>A||||||,A|sequence_feature|LOW|UPK3A|ENSG00000100373|transmembrane_region:Transmembrane_region|ENST00000216211|protein_coding|6/6|c.628G>A||||||,A|sequence_feature|LOW|UPK3A|ENSG00000100373|transmembrane_region:Transmembrane_region|ENST00000396082|protein_coding|3/4|c.265G>A||||||,A|sequence_feature|LOW|UPK3A|ENSG00000100373|transmembrane_region:Transmembrane_region|ENST00000396082|protein_coding|4/4|c.265G>A|||||| 22 45689202 . C G . . ANN=G|splice_region_variant&intron_variant|LOW|UPK3A|ENSG00000100373|transcript|ENST00000216211|protein_coding|5/5|c.704+8C>G||||||,G|splice_region_variant&intron_variant|LOW|UPK3A|ENSG00000100373|transcript|ENST00000396082|protein_coding|3/3|c.341+8C>G||||||,G|sequence_feature|LOW|UPK3A|ENSG00000100373|transmembrane_region:Transmembrane_region|ENST00000216211|protein_coding|5/6|c.704+8C>G||||||,G|sequence_feature|LOW|UPK3A|ENSG00000100373|transmembrane_region:Transmembrane_region|ENST00000216211|protein_coding|6/6|c.704+8C>G||||||,G|sequence_feature|LOW|UPK3A|ENSG00000100373|transmembrane_region:Transmembrane_region|ENST00000396082|protein_coding|3/4|c.341+8C>G||||||,G|sequence_feature|LOW|UPK3A|ENSG00000100373|transmembrane_region:Transmembrane_region|ENST00000396082|protein_coding|4/4|c.341+8C>G|||||| 22 45691521 . C T . . ANN=T|missense_variant|MODERATE|UPK3A|ENSG00000100373|transcript|ENST00000216211|protein_coding|6/6|c.785C>T|p.Ser262Leu|817/1051|785/864|262/287||,T|missense_variant|MODERATE|UPK3A|ENSG00000100373|transcript|ENST00000396082|protein_coding|4/4|c.422C>T|p.Ser141Leu|445/627|422/501|141/166||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Cytoplasmic|ENST00000216211|protein_coding|6/6|c.785C>T||||||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Cytoplasmic|ENST00000396082|protein_coding|4/4|c.422C>T|||||| 22 45691594 . A G . . ANN=G|synonymous_variant|LOW|UPK3A|ENSG00000100373|transcript|ENST00000216211|protein_coding|6/6|c.858A>G|p.Gln286Gln|890/1051|858/864|286/287||,G|synonymous_variant|LOW|UPK3A|ENSG00000100373|transcript|ENST00000396082|protein_coding|4/4|c.495A>G|p.Gln165Gln|518/627|495/501|165/166||,G|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Cytoplasmic|ENST00000216211|protein_coding|6/6|c.858A>G||||||,G|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Cytoplasmic|ENST00000396082|protein_coding|4/4|c.495A>G|||||| 22 45718357 . C T . . ANN=T|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000452238|protein_coding||c.*583C>T|||||50|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000424557|protein_coding||c.*549C>T|||||93|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding|3/9|c.47+50C>T||||||,T|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding|2/8|c.47+50C>T||||||,T|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405673|protein_coding|2/4|c.47+50C>T||||||,T|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000477714|retained_intron|2/3|n.103+50C>T||||||,T|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000427777|protein_coding|2/3|c.47+50C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 45719015 . C T . . ANN=T|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000452238|protein_coding||c.*583C>T|||||708|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000424557|protein_coding||c.*549C>T|||||751|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding|3/9|c.48-41C>T||||||,T|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding|2/8|c.48-41C>T||||||,T|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405673|protein_coding|2/4|c.48-41C>T||||||,T|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000477714|retained_intron|2/3|n.104-41C>T||||||,T|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000427777|protein_coding|2/3|c.48-41C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 45719104 . G A . . ANN=A|synonymous_variant|LOW|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding|4/10|c.96G>A|p.Leu32Leu|930/3458|96/1074|32/357||,A|synonymous_variant|LOW|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding|3/9|c.96G>A|p.Leu32Leu|442/1776|96/1074|32/357||,A|synonymous_variant|LOW|FAM118A|ENSG00000100376|transcript|ENST00000405673|protein_coding|3/5|c.96G>A|p.Leu32Leu|165/1612|96/609|32/202||,A|synonymous_variant|LOW|FAM118A|ENSG00000100376|transcript|ENST00000427777|protein_coding|3/4|c.96G>A|p.Leu32Leu|198/521|96/419|32/138||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|FAM118A|ENSG00000100376|transmembrane_region:Transmembrane_region|ENST00000441876|protein_coding|3/9|c.96G>A||||||,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000452238|protein_coding||c.*583G>A|||||797|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000424557|protein_coding||c.*549G>A|||||840|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000477714|retained_intron|3/4|n.152G>A|||||| 22 45719125 . C T . . ANN=T|synonymous_variant|LOW|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding|4/10|c.117C>T|p.Ser39Ser|951/3458|117/1074|39/357||,T|synonymous_variant|LOW|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding|3/9|c.117C>T|p.Ser39Ser|463/1776|117/1074|39/357||,T|synonymous_variant|LOW|FAM118A|ENSG00000100376|transcript|ENST00000405673|protein_coding|3/5|c.117C>T|p.Ser39Ser|186/1612|117/609|39/202||,T|synonymous_variant|LOW|FAM118A|ENSG00000100376|transcript|ENST00000427777|protein_coding|3/4|c.117C>T|p.Ser39Ser|219/521|117/419|39/138||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|FAM118A|ENSG00000100376|transmembrane_region:Transmembrane_region|ENST00000441876|protein_coding|3/9|c.117C>T||||||,T|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000452238|protein_coding||c.*583C>T|||||818|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000424557|protein_coding||c.*549C>T|||||861|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000477714|retained_intron|3/4|n.173C>T|||||| 22 45719183 . G A . . ANN=A|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding|4/10|c.175G>A|p.Val59Ile|1009/3458|175/1074|59/357||,A|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding|3/9|c.175G>A|p.Val59Ile|521/1776|175/1074|59/357||,A|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000405673|protein_coding|3/5|c.175G>A|p.Val59Ile|244/1612|175/609|59/202||,A|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000427777|protein_coding|3/4|c.175G>A|p.Val59Ile|277/521|175/419|59/138||WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000452238|protein_coding||c.*583G>A|||||876|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000424557|protein_coding||c.*549G>A|||||919|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000477714|retained_intron|3/4|n.231G>A|||||| 22 45719240 . C T . . ANN=T|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding|4/10|c.232C>T|p.Arg78Trp|1066/3458|232/1074|78/357||,T|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding|3/9|c.232C>T|p.Arg78Trp|578/1776|232/1074|78/357||,T|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000405673|protein_coding|3/5|c.232C>T|p.Arg78Trp|301/1612|232/609|78/202||,T|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000427777|protein_coding|3/4|c.232C>T|p.Arg78Trp|334/521|232/419|78/138||WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000452238|protein_coding||c.*583C>T|||||933|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000424557|protein_coding||c.*549C>T|||||976|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000477714|retained_intron|3/4|n.288C>T|||||| 22 45719327 . C A . . ANN=A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000452238|protein_coding||c.*583C>A|||||1020|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000424557|protein_coding||c.*549C>A|||||1063|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding|4/9|c.300+19C>A||||||,A|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding|3/8|c.300+19C>A||||||,A|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405673|protein_coding|3/4|c.300+19C>A||||||,A|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000477714|retained_intron|3/3|n.356+19C>A||||||,A|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000427777|protein_coding|3/3|c.300+19C>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 45723696 . G C . . ANN=C|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476478|processed_transcript||n.-1G>C|||||1333|,C|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000459849|processed_transcript||n.-1G>C|||||1820|,C|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476754|processed_transcript||n.-1G>C|||||1829|,C|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405548|protein_coding||c.-315G>C|||||1829|,C|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000487732|retained_intron||n.-1G>C|||||2642|,C|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding|4/9|c.301-27G>C||||||,C|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding|3/8|c.301-27G>C||||||,C|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405673|protein_coding|3/4|c.301-27G>C||||||,C|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000477714|retained_intron|3/3|n.357-27G>C||||||,C|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000427777|protein_coding|3/3|c.301-27G>C||||||WARNING_TRANSCRIPT_INCOMPLETE 22 45723705 . C T . . ANN=T|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476478|processed_transcript||n.-1C>T|||||1324|,T|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000459849|processed_transcript||n.-1C>T|||||1811|,T|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476754|processed_transcript||n.-1C>T|||||1820|,T|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405548|protein_coding||c.-315C>T|||||1820|,T|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000487732|retained_intron||n.-1C>T|||||2633|,T|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding|4/9|c.301-18C>T||||||,T|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding|3/8|c.301-18C>T||||||,T|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405673|protein_coding|3/4|c.301-18C>T||||||,T|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000477714|retained_intron|3/3|n.357-18C>T||||||,T|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000427777|protein_coding|3/3|c.301-18C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 45723749 . C T . . ANN=T|synonymous_variant|LOW|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding|5/10|c.327C>T|p.Phe109Phe|1161/3458|327/1074|109/357||,T|synonymous_variant|LOW|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding|4/9|c.327C>T|p.Phe109Phe|673/1776|327/1074|109/357||,T|synonymous_variant|LOW|FAM118A|ENSG00000100376|transcript|ENST00000405673|protein_coding|4/5|c.327C>T|p.Phe109Phe|396/1612|327/609|109/202||,T|synonymous_variant|LOW|FAM118A|ENSG00000100376|transcript|ENST00000427777|protein_coding|4/4|c.327C>T|p.Phe109Phe|429/521|327/419|109/138||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476478|processed_transcript||n.-1C>T|||||1280|,T|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000459849|processed_transcript||n.-1C>T|||||1767|,T|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476754|processed_transcript||n.-1C>T|||||1776|,T|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405548|protein_coding||c.-315C>T|||||1776|,T|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000487732|retained_intron||n.-1C>T|||||2589|,T|non_coding_exon_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000477714|retained_intron|4/4|n.383C>T|||||| 22 45723765 . A G . . ANN=G|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding|5/10|c.343A>G|p.Met115Val|1177/3458|343/1074|115/357||,G|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding|4/9|c.343A>G|p.Met115Val|689/1776|343/1074|115/357||,G|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000405673|protein_coding|4/5|c.343A>G|p.Met115Val|412/1612|343/609|115/202||,G|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000427777|protein_coding|4/4|c.343A>G|p.Met115Val|445/521|343/419|115/138||WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476478|processed_transcript||n.-1A>G|||||1264|,G|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000459849|processed_transcript||n.-1A>G|||||1751|,G|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476754|processed_transcript||n.-1A>G|||||1760|,G|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405548|protein_coding||c.-315A>G|||||1760|,G|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000487732|retained_intron||n.-1A>G|||||2573|,G|non_coding_exon_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000477714|retained_intron|4/4|n.399A>G|||||| 22 45723779 . C T . . ANN=T|synonymous_variant|LOW|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding|5/10|c.357C>T|p.Asp119Asp|1191/3458|357/1074|119/357||,T|synonymous_variant|LOW|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding|4/9|c.357C>T|p.Asp119Asp|703/1776|357/1074|119/357||,T|synonymous_variant|LOW|FAM118A|ENSG00000100376|transcript|ENST00000405673|protein_coding|4/5|c.357C>T|p.Asp119Asp|426/1612|357/609|119/202||,T|synonymous_variant|LOW|FAM118A|ENSG00000100376|transcript|ENST00000427777|protein_coding|4/4|c.357C>T|p.Asp119Asp|459/521|357/419|119/138||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476478|processed_transcript||n.-1C>T|||||1250|,T|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000459849|processed_transcript||n.-1C>T|||||1737|,T|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476754|processed_transcript||n.-1C>T|||||1746|,T|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405548|protein_coding||c.-315C>T|||||1746|,T|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000487732|retained_intron||n.-1C>T|||||2559|,T|non_coding_exon_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000477714|retained_intron|4/4|n.413C>T|||||| 22 45723799 . G A . . ANN=A|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding|5/10|c.377G>A|p.Arg126Gln|1211/3458|377/1074|126/357||,A|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding|4/9|c.377G>A|p.Arg126Gln|723/1776|377/1074|126/357||,A|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000405673|protein_coding|4/5|c.377G>A|p.Arg126Gln|446/1612|377/609|126/202||,A|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000427777|protein_coding|4/4|c.377G>A|p.Arg126Gln|479/521|377/419|126/138||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476478|processed_transcript||n.-1G>A|||||1230|,A|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000459849|processed_transcript||n.-1G>A|||||1717|,A|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476754|processed_transcript||n.-1G>A|||||1726|,A|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405548|protein_coding||c.-315G>A|||||1726|,A|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000487732|retained_intron||n.-1G>A|||||2539|,A|non_coding_exon_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000477714|retained_intron|4/4|n.433G>A|||||| 22 45723807 . G C . . ANN=C|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding|5/10|c.385G>C|p.Val129Leu|1219/3458|385/1074|129/357||,C|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding|4/9|c.385G>C|p.Val129Leu|731/1776|385/1074|129/357||,C|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000405673|protein_coding|4/5|c.385G>C|p.Val129Leu|454/1612|385/609|129/202||,C|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000427777|protein_coding|4/4|c.385G>C|p.Val129Leu|487/521|385/419|129/138||WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476478|processed_transcript||n.-1G>C|||||1222|,C|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000459849|processed_transcript||n.-1G>C|||||1709|,C|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476754|processed_transcript||n.-1G>C|||||1718|,C|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405548|protein_coding||c.-315G>C|||||1718|,C|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000487732|retained_intron||n.-1G>C|||||2531|,C|non_coding_exon_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000477714|retained_intron|4/4|n.441G>C|||||| 22 45723813 . C T . . ANN=T|synonymous_variant|LOW|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding|5/10|c.391C>T|p.Leu131Leu|1225/3458|391/1074|131/357||,T|synonymous_variant|LOW|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding|4/9|c.391C>T|p.Leu131Leu|737/1776|391/1074|131/357||,T|synonymous_variant|LOW|FAM118A|ENSG00000100376|transcript|ENST00000405673|protein_coding|4/5|c.391C>T|p.Leu131Leu|460/1612|391/609|131/202||,T|synonymous_variant|LOW|FAM118A|ENSG00000100376|transcript|ENST00000427777|protein_coding|4/4|c.391C>T|p.Leu131Leu|493/521|391/419|131/138||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476478|processed_transcript||n.-1C>T|||||1216|,T|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000459849|processed_transcript||n.-1C>T|||||1703|,T|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476754|processed_transcript||n.-1C>T|||||1712|,T|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405548|protein_coding||c.-315C>T|||||1712|,T|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000487732|retained_intron||n.-1C>T|||||2525|,T|non_coding_exon_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000477714|retained_intron|4/4|n.447C>T|||||| 22 45723821 . G A . . ANN=A|synonymous_variant|LOW|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding|5/10|c.399G>A|p.Ser133Ser|1233/3458|399/1074|133/357||,A|synonymous_variant|LOW|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding|4/9|c.399G>A|p.Ser133Ser|745/1776|399/1074|133/357||,A|synonymous_variant|LOW|FAM118A|ENSG00000100376|transcript|ENST00000405673|protein_coding|4/5|c.399G>A|p.Ser133Ser|468/1612|399/609|133/202||,A|synonymous_variant|LOW|FAM118A|ENSG00000100376|transcript|ENST00000427777|protein_coding|4/4|c.399G>A|p.Ser133Ser|501/521|399/419|133/138||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476478|processed_transcript||n.-1G>A|||||1208|,A|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000459849|processed_transcript||n.-1G>A|||||1695|,A|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476754|processed_transcript||n.-1G>A|||||1704|,A|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405548|protein_coding||c.-315G>A|||||1704|,A|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000487732|retained_intron||n.-1G>A|||||2517|,A|non_coding_exon_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000477714|retained_intron|4/4|n.455G>A|||||| 22 45723842 . G A . . ANN=A|synonymous_variant|LOW|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding|5/10|c.420G>A|p.Arg140Arg|1254/3458|420/1074|140/357||,A|synonymous_variant|LOW|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding|4/9|c.420G>A|p.Arg140Arg|766/1776|420/1074|140/357||,A|synonymous_variant|LOW|FAM118A|ENSG00000100376|transcript|ENST00000405673|protein_coding|4/5|c.420G>A|p.Arg140Arg|489/1612|420/609|140/202||,A|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476478|processed_transcript||n.-1G>A|||||1187|,A|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000459849|processed_transcript||n.-1G>A|||||1674|,A|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476754|processed_transcript||n.-1G>A|||||1683|,A|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405548|protein_coding||c.-315G>A|||||1683|,A|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000487732|retained_intron||n.-1G>A|||||2496|,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000427777|protein_coding||c.*521G>A|||||1|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000477714|retained_intron|4/4|n.476G>A|||||| 22 45723846 . G A . . ANN=A|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding|5/10|c.424G>A|p.Ala142Thr|1258/3458|424/1074|142/357||,A|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding|4/9|c.424G>A|p.Ala142Thr|770/1776|424/1074|142/357||,A|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000405673|protein_coding|4/5|c.424G>A|p.Ala142Thr|493/1612|424/609|142/202||,A|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476478|processed_transcript||n.-1G>A|||||1183|,A|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000459849|processed_transcript||n.-1G>A|||||1670|,A|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476754|processed_transcript||n.-1G>A|||||1679|,A|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405548|protein_coding||c.-315G>A|||||1679|,A|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000487732|retained_intron||n.-1G>A|||||2492|,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000427777|protein_coding||c.*521G>A|||||5|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000477714|retained_intron|4/4|n.480G>A|||||| 22 45723854 . C G . . ANN=G|synonymous_variant|LOW|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding|5/10|c.432C>G|p.Val144Val|1266/3458|432/1074|144/357||,G|synonymous_variant|LOW|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding|4/9|c.432C>G|p.Val144Val|778/1776|432/1074|144/357||,G|synonymous_variant|LOW|FAM118A|ENSG00000100376|transcript|ENST00000405673|protein_coding|4/5|c.432C>G|p.Val144Val|501/1612|432/609|144/202||,G|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476478|processed_transcript||n.-1C>G|||||1175|,G|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000459849|processed_transcript||n.-1C>G|||||1662|,G|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476754|processed_transcript||n.-1C>G|||||1671|,G|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405548|protein_coding||c.-315C>G|||||1671|,G|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000487732|retained_intron||n.-1C>G|||||2484|,G|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000427777|protein_coding||c.*521C>G|||||13|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000477714|retained_intron|4/4|n.488C>G|||||| 22 45723902 . G C . . ANN=C|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding|5/10|c.480G>C|p.Gln160His|1314/3458|480/1074|160/357||,C|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding|4/9|c.480G>C|p.Gln160His|826/1776|480/1074|160/357||,C|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000405673|protein_coding|4/5|c.480G>C|p.Gln160His|549/1612|480/609|160/202||,C|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476478|processed_transcript||n.-1G>C|||||1127|,C|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000459849|processed_transcript||n.-1G>C|||||1614|,C|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476754|processed_transcript||n.-1G>C|||||1623|,C|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405548|protein_coding||c.-315G>C|||||1623|,C|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000487732|retained_intron||n.-1G>C|||||2436|,C|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000427777|protein_coding||c.*521G>C|||||61|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000477714|retained_intron|4/4|n.536G>C|||||| 22 45726601 . G A . . ANN=A|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding|6/10|c.640G>A|p.Ala214Thr|1474/3458|640/1074|214/357||,A|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding|5/9|c.640G>A|p.Ala214Thr|986/1776|640/1074|214/357||,A|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000405548|protein_coding|2/6|c.94G>A|p.Ala32Thr|408/930|94/528|32/175||,A|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000483102|processed_transcript||n.-1G>A|||||4305|,A|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000462361|retained_intron||n.-1G>A|||||4496|,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405673|protein_coding||c.*678G>A|||||1308|,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000477714|retained_intron||n.*756G>A|||||2479|,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000427777|protein_coding||c.*521G>A|||||2760|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476478|processed_transcript||n.*354G>A|||||1|,A|non_coding_exon_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000459849|processed_transcript|2/3|n.417G>A||||||,A|non_coding_exon_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476754|processed_transcript|2/3|n.408G>A||||||,A|non_coding_exon_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000487732|retained_intron|1/4|n.264G>A|||||| 22 45726641 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|FAM118A|ENSG00000100376|transcript|ENST00000476754|processed_transcript|2/2|n.444+4C>T||||||,T|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000483102|processed_transcript||n.-1C>T|||||4265|,T|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000462361|retained_intron||n.-1C>T|||||4456|,T|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405673|protein_coding||c.*678C>T|||||1348|,T|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000477714|retained_intron||n.*756C>T|||||2519|,T|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000427777|protein_coding||c.*521C>T|||||2800|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476478|processed_transcript||n.*354C>T|||||41|,T|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding|6/9|c.651+29C>T||||||,T|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding|5/8|c.651+29C>T||||||,T|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000459849|processed_transcript|2/2|n.428+29C>T||||||,T|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405548|protein_coding|2/5|c.105+29C>T||||||,T|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000487732|retained_intron|1/3|n.275+29C>T|||||| 22 45728278 . A G . . ANN=G|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000483102|processed_transcript||n.-1A>G|||||2628|,G|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000462361|retained_intron||n.-1A>G|||||2819|,G|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000479180|processed_transcript||n.-1A>G|||||3998|,G|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405673|protein_coding||c.*678A>G|||||2985|,G|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000477714|retained_intron||n.*756A>G|||||4156|,G|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000427777|protein_coding||c.*521A>G|||||4437|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476478|processed_transcript||n.*354A>G|||||1678|,G|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding|6/9|c.652-28A>G||||||,G|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding|5/8|c.652-28A>G||||||,G|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000459849|processed_transcript|2/2|n.429-28A>G||||||,G|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476754|processed_transcript|2/2|n.445-28A>G||||||,G|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405548|protein_coding|2/5|c.106-28A>G||||||,G|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000487732|retained_intron|1/3|n.276-28A>G|||||| 22 45728302 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding|6/9|c.652-4C>T||||||,T|splice_region_variant&intron_variant|LOW|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding|5/8|c.652-4C>T||||||,T|splice_region_variant&intron_variant|LOW|FAM118A|ENSG00000100376|transcript|ENST00000459849|processed_transcript|2/2|n.429-4C>T||||||,T|splice_region_variant&intron_variant|LOW|FAM118A|ENSG00000100376|transcript|ENST00000476754|processed_transcript|2/2|n.445-4C>T||||||,T|splice_region_variant&intron_variant|LOW|FAM118A|ENSG00000100376|transcript|ENST00000405548|protein_coding|2/5|c.106-4C>T||||||,T|splice_region_variant&intron_variant|LOW|FAM118A|ENSG00000100376|transcript|ENST00000487732|retained_intron|1/3|n.276-4C>T||||||,T|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000483102|processed_transcript||n.-1C>T|||||2604|,T|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000462361|retained_intron||n.-1C>T|||||2795|,T|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000479180|processed_transcript||n.-1C>T|||||3974|,T|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405673|protein_coding||c.*678C>T|||||3009|,T|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000477714|retained_intron||n.*756C>T|||||4180|,T|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000427777|protein_coding||c.*521C>T|||||4461|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476478|processed_transcript||n.*354C>T|||||1702| 22 45728370 . G A . . ANN=A|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding|7/10|c.716G>A|p.Arg239His|1550/3458|716/1074|239/357||,A|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding|6/9|c.716G>A|p.Arg239His|1062/1776|716/1074|239/357||,A|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000405548|protein_coding|3/6|c.170G>A|p.Arg57His|484/930|170/528|57/175||,A|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000483102|processed_transcript||n.-1G>A|||||2536|,A|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000462361|retained_intron||n.-1G>A|||||2727|,A|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000479180|processed_transcript||n.-1G>A|||||3906|,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405673|protein_coding||c.*678G>A|||||3077|,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000477714|retained_intron||n.*756G>A|||||4248|,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000427777|protein_coding||c.*521G>A|||||4529|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476478|processed_transcript||n.*354G>A|||||1770|,A|non_coding_exon_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000459849|processed_transcript|3/3|n.493G>A||||||,A|non_coding_exon_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476754|processed_transcript|3/3|n.509G>A||||||,A|non_coding_exon_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000487732|retained_intron|2/4|n.340G>A|||||| 22 45728482 . A G . . ANN=G|synonymous_variant|LOW|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding|7/10|c.828A>G|p.Ala276Ala|1662/3458|828/1074|276/357||,G|synonymous_variant|LOW|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding|6/9|c.828A>G|p.Ala276Ala|1174/1776|828/1074|276/357||,G|synonymous_variant|LOW|FAM118A|ENSG00000100376|transcript|ENST00000405548|protein_coding|3/6|c.282A>G|p.Ala94Ala|596/930|282/528|94/175||,G|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000483102|processed_transcript||n.-1A>G|||||2424|,G|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000462361|retained_intron||n.-1A>G|||||2615|,G|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000479180|processed_transcript||n.-1A>G|||||3794|,G|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405673|protein_coding||c.*678A>G|||||3189|,G|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000477714|retained_intron||n.*756A>G|||||4360|,G|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000427777|protein_coding||c.*521A>G|||||4641|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476478|processed_transcript||n.*354A>G|||||1882|,G|non_coding_exon_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000459849|processed_transcript|3/3|n.605A>G||||||,G|non_coding_exon_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476754|processed_transcript|3/3|n.621A>G||||||,G|non_coding_exon_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000487732|retained_intron|2/4|n.452A>G|||||| 22 45728524 . C T . . ANN=T|synonymous_variant|LOW|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding|7/10|c.870C>T|p.Asp290Asp|1704/3458|870/1074|290/357||,T|synonymous_variant|LOW|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding|6/9|c.870C>T|p.Asp290Asp|1216/1776|870/1074|290/357||,T|synonymous_variant|LOW|FAM118A|ENSG00000100376|transcript|ENST00000405548|protein_coding|3/6|c.324C>T|p.Asp108Asp|638/930|324/528|108/175||,T|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000483102|processed_transcript||n.-1C>T|||||2382|,T|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000462361|retained_intron||n.-1C>T|||||2573|,T|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000479180|processed_transcript||n.-1C>T|||||3752|,T|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405673|protein_coding||c.*678C>T|||||3231|,T|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000477714|retained_intron||n.*756C>T|||||4402|,T|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000427777|protein_coding||c.*521C>T|||||4683|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476478|processed_transcript||n.*354C>T|||||1924|,T|non_coding_exon_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000459849|processed_transcript|3/3|n.647C>T||||||,T|non_coding_exon_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476754|processed_transcript|3/3|n.663C>T||||||,T|non_coding_exon_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000487732|retained_intron|2/4|n.494C>T|||||| 22 45728540 . C G . . ANN=G|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding|7/10|c.886C>G|p.Pro296Ala|1720/3458|886/1074|296/357||,G|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding|6/9|c.886C>G|p.Pro296Ala|1232/1776|886/1074|296/357||,G|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000405548|protein_coding|3/6|c.340C>G|p.Pro114Ala|654/930|340/528|114/175||,G|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000483102|processed_transcript||n.-1C>G|||||2366|,G|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000462361|retained_intron||n.-1C>G|||||2557|,G|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000479180|processed_transcript||n.-1C>G|||||3736|,G|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405673|protein_coding||c.*678C>G|||||3247|,G|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000477714|retained_intron||n.*756C>G|||||4418|,G|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000427777|protein_coding||c.*521C>G|||||4699|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476478|processed_transcript||n.*354C>G|||||1940|,G|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476754|processed_transcript||n.*675C>G|||||4|,G|non_coding_exon_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000459849|processed_transcript|3/3|n.663C>G||||||,G|non_coding_exon_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000487732|retained_intron|2/4|n.510C>G|||||| 22 45728596 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding|7/9|c.937+5G>A||||||,A|splice_region_variant&intron_variant|LOW|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding|6/8|c.937+5G>A||||||,A|splice_region_variant&intron_variant|LOW|FAM118A|ENSG00000100376|transcript|ENST00000405548|protein_coding|3/5|c.391+5G>A||||||,A|splice_region_variant&intron_variant|LOW|FAM118A|ENSG00000100376|transcript|ENST00000487732|retained_intron|2/3|n.561+5G>A||||||,A|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000483102|processed_transcript||n.-1G>A|||||2310|,A|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000462361|retained_intron||n.-1G>A|||||2501|,A|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000479180|processed_transcript||n.-1G>A|||||3680|,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405673|protein_coding||c.*678G>A|||||3303|,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000477714|retained_intron||n.*756G>A|||||4474|,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000427777|protein_coding||c.*521G>A|||||4755|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476478|processed_transcript||n.*354G>A|||||1996|,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000459849|processed_transcript||n.*695G>A|||||24|,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476754|processed_transcript||n.*675G>A|||||60| 22 45728615 . C G . . ANN=G|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000483102|processed_transcript||n.-1C>G|||||2291|,G|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000462361|retained_intron||n.-1C>G|||||2482|,G|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000479180|processed_transcript||n.-1C>G|||||3661|,G|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405673|protein_coding||c.*678C>G|||||3322|,G|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000477714|retained_intron||n.*756C>G|||||4493|,G|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000427777|protein_coding||c.*521C>G|||||4774|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476478|processed_transcript||n.*354C>G|||||2015|,G|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000459849|processed_transcript||n.*695C>G|||||43|,G|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476754|processed_transcript||n.*675C>G|||||79|,G|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding|7/9|c.937+24C>G||||||,G|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding|6/8|c.937+24C>G||||||,G|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405548|protein_coding|3/5|c.391+24C>G||||||,G|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000487732|retained_intron|2/3|n.561+24C>G|||||| 22 45728632 . CT C,CTTT,CTTTT . . ANN=|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000483102|processed_transcript||n.-1delT|||||2273|,TT|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000483102|processed_transcript||n.-1_-1insTT|||||2272|,TTT|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000483102|processed_transcript||n.-1_-1insTTT|||||2272|,|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000462361|retained_intron||n.-1delT|||||2464|,TT|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000462361|retained_intron||n.-1_-1insTT|||||2463|,TTT|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000462361|retained_intron||n.-1_-1insTTT|||||2463|,|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000479180|processed_transcript||n.-1delT|||||3643|,TT|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000479180|processed_transcript||n.-1_-1insTT|||||3642|,TTT|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000479180|processed_transcript||n.-1_-1insTTT|||||3642|,|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405673|protein_coding||c.*678delT|||||3340|,TT|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405673|protein_coding||c.*678_*678insTT|||||3341|,TTT|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405673|protein_coding||c.*678_*678insTTT|||||3341|,|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000477714|retained_intron||n.*756delT|||||4511|,TT|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000477714|retained_intron||n.*756_*756insTT|||||4512|,TTT|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000477714|retained_intron||n.*756_*756insTTT|||||4512|,|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000427777|protein_coding||c.*521delT|||||4792|WARNING_TRANSCRIPT_INCOMPLETE,TT|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000427777|protein_coding||c.*521_*521insTT|||||4793|WARNING_TRANSCRIPT_INCOMPLETE,TTT|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000427777|protein_coding||c.*521_*521insTTT|||||4793|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476478|processed_transcript||n.*354delT|||||2033|,TT|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476478|processed_transcript||n.*354_*354insTT|||||2034|,TTT|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476478|processed_transcript||n.*354_*354insTTT|||||2034|,|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000459849|processed_transcript||n.*695delT|||||61|,TT|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000459849|processed_transcript||n.*695_*695insTT|||||62|,TTT|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000459849|processed_transcript||n.*695_*695insTTT|||||62|,|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476754|processed_transcript||n.*675delT|||||97|,TT|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476754|processed_transcript||n.*675_*675insTT|||||98|,TTT|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476754|processed_transcript||n.*675_*675insTTT|||||98|,|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding|7/9|c.937+53delT||||||INFO_REALIGN_3_PRIME,TT|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding|7/9|c.937+52_937+53dupTT||||||INFO_REALIGN_3_PRIME,TTT|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding|7/9|c.937+51_937+53dupTTT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding|6/8|c.937+53delT||||||INFO_REALIGN_3_PRIME,TT|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding|6/8|c.937+52_937+53dupTT||||||INFO_REALIGN_3_PRIME,TTT|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding|6/8|c.937+51_937+53dupTTT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405548|protein_coding|3/5|c.391+53delT||||||INFO_REALIGN_3_PRIME,TT|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405548|protein_coding|3/5|c.391+52_391+53dupTT||||||INFO_REALIGN_3_PRIME,TTT|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405548|protein_coding|3/5|c.391+51_391+53dupTTT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000487732|retained_intron|2/3|n.561+53delT||||||INFO_REALIGN_3_PRIME,TT|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000487732|retained_intron|2/3|n.561+52_561+53dupTT||||||INFO_REALIGN_3_PRIME,TTT|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000487732|retained_intron|2/3|n.561+51_561+53dupTTT||||||INFO_REALIGN_3_PRIME 22 45731182 . C T . . ANN=T|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000479180|processed_transcript||n.-1C>T|||||1094|,T|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476478|processed_transcript||n.*354C>T|||||4582|,T|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000459849|processed_transcript||n.*695C>T|||||2610|,T|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476754|processed_transcript||n.*675C>T|||||2646|,T|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding|7/9|c.938-49C>T||||||,T|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding|6/8|c.938-49C>T||||||,T|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405548|protein_coding|3/5|c.392-49C>T||||||,T|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000487732|retained_intron|2/3|n.562-49C>T||||||,T|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000483102|processed_transcript|1/3|n.165-49C>T||||||,T|non_coding_exon_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000462361|retained_intron|1/3|n.86C>T|||||| 22 45731193 . T A . . ANN=A|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000479180|processed_transcript||n.-1T>A|||||1083|,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476478|processed_transcript||n.*354T>A|||||4593|,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000459849|processed_transcript||n.*695T>A|||||2621|,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476754|processed_transcript||n.*675T>A|||||2657|,A|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding|7/9|c.938-38T>A||||||,A|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding|6/8|c.938-38T>A||||||,A|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405548|protein_coding|3/5|c.392-38T>A||||||,A|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000487732|retained_intron|2/3|n.562-38T>A||||||,A|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000483102|processed_transcript|1/3|n.165-38T>A||||||,A|non_coding_exon_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000462361|retained_intron|1/3|n.97T>A|||||| 22 45731198 . C T . . ANN=T|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000479180|processed_transcript||n.-1C>T|||||1078|,T|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476478|processed_transcript||n.*354C>T|||||4598|,T|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000459849|processed_transcript||n.*695C>T|||||2626|,T|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476754|processed_transcript||n.*675C>T|||||2662|,T|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding|7/9|c.938-33C>T||||||,T|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding|6/8|c.938-33C>T||||||,T|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405548|protein_coding|3/5|c.392-33C>T||||||,T|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000487732|retained_intron|2/3|n.562-33C>T||||||,T|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000483102|processed_transcript|1/3|n.165-33C>T||||||,T|non_coding_exon_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000462361|retained_intron|1/3|n.102C>T|||||| 22 45731199 . G A . . ANN=A|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000479180|processed_transcript||n.-1G>A|||||1077|,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476478|processed_transcript||n.*354G>A|||||4599|,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000459849|processed_transcript||n.*695G>A|||||2627|,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476754|processed_transcript||n.*675G>A|||||2663|,A|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding|7/9|c.938-32G>A||||||,A|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding|6/8|c.938-32G>A||||||,A|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405548|protein_coding|3/5|c.392-32G>A||||||,A|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000487732|retained_intron|2/3|n.562-32G>A||||||,A|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000483102|processed_transcript|1/3|n.165-32G>A||||||,A|non_coding_exon_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000462361|retained_intron|1/3|n.103G>A|||||| 22 45731279 . C A . . ANN=A|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000479180|processed_transcript||n.-1C>A|||||997|,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476478|processed_transcript||n.*354C>A|||||4679|,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000459849|processed_transcript||n.*695C>A|||||2707|,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476754|processed_transcript||n.*675C>A|||||2743|,A|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding|8/9|c.970+16C>A||||||,A|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding|7/8|c.970+16C>A||||||,A|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405548|protein_coding|4/5|c.424+16C>A||||||,A|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000487732|retained_intron|3/3|n.594+16C>A||||||,A|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000483102|processed_transcript|2/3|n.197+16C>A||||||,A|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000462361|retained_intron|1/2|n.167+16C>A|||||| 22 45731303 . T C . . ANN=C|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000479180|processed_transcript||n.-1T>C|||||973|,C|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476478|processed_transcript||n.*354T>C|||||4703|,C|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000459849|processed_transcript||n.*695T>C|||||2731|,C|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476754|processed_transcript||n.*675T>C|||||2767|,C|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding|8/9|c.970+40T>C||||||,C|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding|7/8|c.970+40T>C||||||,C|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405548|protein_coding|4/5|c.424+40T>C||||||,C|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000487732|retained_intron|3/3|n.594+40T>C||||||,C|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000483102|processed_transcript|2/3|n.197+40T>C||||||,C|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000462361|retained_intron|1/2|n.167+40T>C|||||| 22 45731304 . A G . . ANN=G|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000479180|processed_transcript||n.-1A>G|||||972|,G|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476478|processed_transcript||n.*354A>G|||||4704|,G|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000459849|processed_transcript||n.*695A>G|||||2732|,G|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476754|processed_transcript||n.*675A>G|||||2768|,G|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding|8/9|c.970+41A>G||||||,G|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding|7/8|c.970+41A>G||||||,G|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405548|protein_coding|4/5|c.424+41A>G||||||,G|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000487732|retained_intron|3/3|n.594+41A>G||||||,G|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000483102|processed_transcript|2/3|n.197+41A>G||||||,G|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000462361|retained_intron|1/2|n.167+41A>G|||||| 22 45732165 . G A . . ANN=A|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000479180|processed_transcript||n.-1G>A|||||111|,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000459849|processed_transcript||n.*695G>A|||||3593|,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476754|processed_transcript||n.*675G>A|||||3629|,A|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding|8/9|c.971-44G>A||||||,A|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding|7/8|c.971-44G>A||||||,A|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405548|protein_coding|4/5|c.425-44G>A||||||,A|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000487732|retained_intron|3/3|n.595-44G>A||||||,A|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000483102|processed_transcript|2/3|n.198-44G>A||||||,A|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000462361|retained_intron|1/2|n.168-44G>A|||||| 22 45732175 . T C . . ANN=C|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000479180|processed_transcript||n.-1T>C|||||101|,C|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000459849|processed_transcript||n.*695T>C|||||3603|,C|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476754|processed_transcript||n.*675T>C|||||3639|,C|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding|8/9|c.971-34T>C||||||,C|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding|7/8|c.971-34T>C||||||,C|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405548|protein_coding|4/5|c.425-34T>C||||||,C|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000487732|retained_intron|3/3|n.595-34T>C||||||,C|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000483102|processed_transcript|2/3|n.198-34T>C||||||,C|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000462361|retained_intron|1/2|n.168-34T>C|||||| 22 45732313 . G A . . ANN=A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000459849|processed_transcript||n.*695G>A|||||3741|,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476754|processed_transcript||n.*675G>A|||||3777|,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000487732|retained_intron||n.*677G>A|||||22|,A|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding|9/9|c.1054+21G>A||||||,A|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding|8/8|c.1054+21G>A||||||,A|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405548|protein_coding|5/5|c.508+21G>A||||||,A|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000483102|processed_transcript|3/3|n.281+21G>A||||||,A|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000462361|retained_intron|2/2|n.251+21G>A||||||,A|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000479180|processed_transcript|1/2|n.17+21G>A|||||| 22 45732328 . G A . . ANN=A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000459849|processed_transcript||n.*695G>A|||||3756|,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476754|processed_transcript||n.*675G>A|||||3792|,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000487732|retained_intron||n.*677G>A|||||37|,A|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding|9/9|c.1054+36G>A||||||,A|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding|8/8|c.1054+36G>A||||||,A|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405548|protein_coding|5/5|c.508+36G>A||||||,A|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000483102|processed_transcript|3/3|n.281+36G>A||||||,A|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000462361|retained_intron|2/2|n.251+36G>A||||||,A|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000479180|processed_transcript|1/2|n.17+36G>A|||||| 22 45736218 . T C . . ANN=C|downstream_gene_variant|MODIFIER|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding||c.*3708A>G|||||3726|,C|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000487732|retained_intron||n.*677T>C|||||3927|,C|downstream_gene_variant|MODIFIER|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding||c.*3538A>G|||||4121|,C|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding|9/9|c.1055-49T>C||||||,C|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding|8/8|c.1055-49T>C||||||,C|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405548|protein_coding|5/5|c.509-49T>C||||||,C|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000483102|processed_transcript|3/3|n.282-49T>C||||||,C|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000462361|retained_intron|2/2|n.252-49T>C||||||,C|intron_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000479180|processed_transcript|2/2|n.153-49T>C|||||| 22 45736327 . T G . . ANN=G|3_prime_UTR_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding|10/10|c.*41T>G|||||41|,G|3_prime_UTR_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding|9/9|c.*41T>G|||||41|,G|3_prime_UTR_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405548|protein_coding|6/6|c.*41T>G|||||41|,G|downstream_gene_variant|MODIFIER|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding||c.*3708A>C|||||3617|,G|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000487732|retained_intron||n.*677T>G|||||4036|,G|downstream_gene_variant|MODIFIER|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding||c.*3538A>C|||||4012|,G|non_coding_exon_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000483102|processed_transcript|4/4|n.342T>G||||||,G|non_coding_exon_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000462361|retained_intron|3/3|n.312T>G||||||,G|non_coding_exon_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000479180|processed_transcript|3/3|n.213T>G|||||| 22 45740401 . C G . . ANN=G|3_prime_UTR_variant|MODIFIER|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|25/25|c.*36G>C|||||36|,G|3_prime_UTR_variant|MODIFIER|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|23/23|c.*36G>C|||||36|,G|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding||c.*1908C>G|||||2565|,G|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding||c.*1420C>G|||||3759|,G|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405548|protein_coding||c.*842C>G|||||4027|,G|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000483102|processed_transcript||n.*657C>G|||||3759|,G|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000462361|retained_intron||n.*712C>G|||||3674|,G|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000479180|processed_transcript||n.*649C>G|||||3638| 22 45740462 . C G . . ANN=G|missense_variant|MODERATE|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|25/25|c.3683G>C|p.Ser1228Thr|3683/4201|3683/3708|1228/1235||,G|missense_variant|MODERATE|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|23/23|c.3461G>C|p.Ser1154Thr|3513/3636|3461/3486|1154/1161||,G|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding||c.*1908C>G|||||2626|,G|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding||c.*1420C>G|||||3820|,G|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405548|protein_coding||c.*842C>G|||||4088|,G|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000483102|processed_transcript||n.*657C>G|||||3820|,G|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000462361|retained_intron||n.*712C>G|||||3735|,G|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000479180|processed_transcript||n.*649C>G|||||3699| 22 45741320 . C T . . ANN=T|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding||c.*1908C>T|||||3484|,T|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding||c.*1420C>T|||||4678|,T|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405548|protein_coding||c.*842C>T|||||4946|,T|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000483102|processed_transcript||n.*657C>T|||||4678|,T|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000462361|retained_intron||n.*712C>T|||||4593|,T|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000479180|processed_transcript||n.*649C>T|||||4557|,T|intron_variant|MODIFIER|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|24/24|c.3606+20G>A||||||,T|intron_variant|MODIFIER|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|22/22|c.3384+20G>A|||||| 22 45741364 . G A . . ANN=A|synonymous_variant|LOW|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|24/25|c.3582C>T|p.Asp1194Asp|3582/4201|3582/3708|1194/1235||,A|synonymous_variant|LOW|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|22/23|c.3360C>T|p.Asp1120Asp|3412/3636|3360/3486|1120/1161||,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding||c.*1908G>A|||||3528|,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding||c.*1420G>A|||||4722|,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405548|protein_coding||c.*842G>A|||||4990|,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000483102|processed_transcript||n.*657G>A|||||4722|,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000462361|retained_intron||n.*712G>A|||||4637|,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000479180|processed_transcript||n.*649G>A|||||4601| 22 45741416 . T A . . ANN=A|missense_variant|MODERATE|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|24/25|c.3530A>T|p.Gln1177Leu|3530/4201|3530/3708|1177/1235||,A|missense_variant|MODERATE|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|22/23|c.3308A>T|p.Gln1103Leu|3360/3636|3308/3486|1103/1161||,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding||c.*1908T>A|||||3580|,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding||c.*1420T>A|||||4774|,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000483102|processed_transcript||n.*657T>A|||||4774|,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000462361|retained_intron||n.*712T>A|||||4689|,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000479180|processed_transcript||n.*649T>A|||||4653| 22 45745691 . T C . . ANN=C|sequence_feature|LOW|SMC1B|ENSG00000077935|compositionally_biased_region:Ala/Asp-rich__DA-box_|ENST00000357450|protein_coding|22/25|c.3426-13A>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|compositionally_biased_region:Ala/Asp-rich__DA-box_|ENST00000357450|protein_coding|23/25|c.3426-13A>G||||||,C|intron_variant|MODIFIER|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|22/24|c.3426-13A>G||||||,C|intron_variant|MODIFIER|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|21/22|c.3273+4167A>G|||||| 22 45748284 . C CT . . ANN=T|sequence_feature|LOW|SMC1B|ENSG00000077935|compositionally_biased_region:Ala/Asp-rich__DA-box_|ENST00000357450|protein_coding|22/25|c.3425+46dupA||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|compositionally_biased_region:Ala/Asp-rich__DA-box_|ENST00000357450|protein_coding|23/25|c.3425+46dupA||||||,T|intron_variant|MODIFIER|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|22/24|c.3425+46dupA||||||,T|intron_variant|MODIFIER|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|21/22|c.3273+1573dupA|||||| 22 45748285 . T TC . . ANN=C|sequence_feature|LOW|SMC1B|ENSG00000077935|compositionally_biased_region:Ala/Asp-rich__DA-box_|ENST00000357450|protein_coding|22/25|c.3425+45_3425+46insG||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|compositionally_biased_region:Ala/Asp-rich__DA-box_|ENST00000357450|protein_coding|23/25|c.3425+45_3425+46insG||||||,C|intron_variant|MODIFIER|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|22/24|c.3425+45_3425+46insG||||||,C|intron_variant|MODIFIER|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|21/22|c.3273+1572_3273+1573insG|||||| 22 45748302 . T G . . ANN=G|sequence_feature|LOW|SMC1B|ENSG00000077935|compositionally_biased_region:Ala/Asp-rich__DA-box_|ENST00000357450|protein_coding|22/25|c.3425+29A>C||||||,G|sequence_feature|LOW|SMC1B|ENSG00000077935|compositionally_biased_region:Ala/Asp-rich__DA-box_|ENST00000357450|protein_coding|23/25|c.3425+29A>C||||||,G|intron_variant|MODIFIER|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|22/24|c.3425+29A>C||||||,G|intron_variant|MODIFIER|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|21/22|c.3273+1556A>C|||||| 22 45748339 . A G . . ANN=G|synonymous_variant|LOW|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|22/25|c.3417T>C|p.Ala1139Ala|3417/4201|3417/3708|1139/1235||,G|sequence_feature|LOW|SMC1B|ENSG00000077935|compositionally_biased_region:Ala/Asp-rich__DA-box_|ENST00000357450|protein_coding|22/25|c.3417T>C||||||,G|sequence_feature|LOW|SMC1B|ENSG00000077935|compositionally_biased_region:Ala/Asp-rich__DA-box_|ENST00000357450|protein_coding|23/25|c.3417T>C||||||,G|intron_variant|MODIFIER|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|21/22|c.3273+1519T>C|||||| 22 45749966 . G C . . ANN=C|missense_variant|MODERATE|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|21/25|c.3165C>G|p.Phe1055Leu|3165/4201|3165/3708|1055/1235||,C|missense_variant|MODERATE|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|21/23|c.3165C>G|p.Phe1055Leu|3217/3636|3165/3486|1055/1161|| 22 45749983 . G T . . ANN=T|missense_variant|MODERATE|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|21/25|c.3148C>A|p.Leu1050Met|3148/4201|3148/3708|1050/1235||,T|missense_variant|MODERATE|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|21/23|c.3148C>A|p.Leu1050Met|3200/3636|3148/3486|1050/1161|| 22 45750920 . A G . . ANN=G|synonymous_variant|LOW|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|20/25|c.3037T>C|p.Leu1013Leu|3037/4201|3037/3708|1013/1235||,G|synonymous_variant|LOW|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|20/23|c.3037T>C|p.Leu1013Leu|3089/3636|3037/3486|1013/1161|| 22 45754558 . A G . . ANN=G|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|20/25|c.2961+19T>C||||||,G|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|19/25|c.2961+19T>C||||||,G|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|20/23|c.2961+19T>C||||||,G|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|19/23|c.2961+19T>C||||||,G|intron_variant|MODIFIER|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|19/24|c.2961+19T>C||||||,G|intron_variant|MODIFIER|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|19/22|c.2961+19T>C|||||| 22 45755666 . C T . . ANN=T|intron_variant|MODIFIER|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|18/24|c.2862+19G>A||||||,T|intron_variant|MODIFIER|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|18/22|c.2862+19G>A|||||| 22 45755814 . T G . . ANN=G|missense_variant|MODERATE|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|18/25|c.2733A>C|p.Glu911Asp|2733/4201|2733/3708|911/1235||,G|missense_variant|MODERATE|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|18/23|c.2733A>C|p.Glu911Asp|2785/3636|2733/3486|911/1161|| 22 45755848 . C T . . ANN=T|intron_variant|MODIFIER|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|17/24|c.2709-10G>A||||||,T|intron_variant|MODIFIER|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|17/22|c.2709-10G>A|||||| 22 45755856 . T G . . ANN=G|intron_variant|MODIFIER|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|17/24|c.2709-18A>C||||||,G|intron_variant|MODIFIER|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|17/22|c.2709-18A>C|||||| 22 45755888 . G A . . ANN=A|intron_variant|MODIFIER|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|17/24|c.2709-50C>T||||||,A|intron_variant|MODIFIER|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|17/22|c.2709-50C>T|||||| 22 45758754 . T C . . ANN=C|intron_variant|MODIFIER|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|16/24|c.2562+11A>G||||||,C|intron_variant|MODIFIER|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|16/22|c.2562+11A>G|||||| 22 45758758 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|16/24|c.2562+7A>G||||||,C|splice_region_variant&intron_variant|LOW|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|16/22|c.2562+7A>G|||||| 22 45767369 . A G . . ANN=G|synonymous_variant|LOW|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|14/25|c.2295T>C|p.Phe765Phe|2295/4201|2295/3708|765/1235||,G|synonymous_variant|LOW|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|14/23|c.2295T>C|p.Phe765Phe|2347/3636|2295/3486|765/1161|| 22 45767391 . C T . . ANN=T|missense_variant|MODERATE|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|14/25|c.2273G>A|p.Arg758Gln|2273/4201|2273/3708|758/1235||,T|missense_variant|MODERATE|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|14/23|c.2273G>A|p.Arg758Gln|2325/3636|2273/3486|758/1161|| 22 45767413 . A G . . ANN=G|synonymous_variant|LOW|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|14/25|c.2251T>C|p.Leu751Leu|2251/4201|2251/3708|751/1235||,G|synonymous_variant|LOW|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|14/23|c.2251T>C|p.Leu751Leu|2303/3636|2251/3486|751/1161|| 22 45767421 . C T . . ANN=T|missense_variant|MODERATE|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|14/25|c.2243G>A|p.Cys748Tyr|2243/4201|2243/3708|748/1235||,T|missense_variant|MODERATE|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|14/23|c.2243G>A|p.Cys748Tyr|2295/3636|2243/3486|748/1161|| 22 45767455 . A G . . ANN=G|synonymous_variant|LOW|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|14/25|c.2209T>C|p.Leu737Leu|2209/4201|2209/3708|737/1235||,G|synonymous_variant|LOW|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|14/23|c.2209T>C|p.Leu737Leu|2261/3636|2209/3486|737/1161|| 22 45767996 . G A . . ANN=A|intron_variant|MODIFIER|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|13/24|c.2196+39C>T||||||,A|intron_variant|MODIFIER|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|13/22|c.2196+39C>T|||||| 22 45779335 . A G . . ANN=G|intron_variant|MODIFIER|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|12/24|c.2058+12T>C||||||,G|intron_variant|MODIFIER|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|12/22|c.2058+12T>C|||||| 22 45779338 . T C . . ANN=C|intron_variant|MODIFIER|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|12/24|c.2058+9A>G||||||,C|intron_variant|MODIFIER|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|12/22|c.2058+9A>G|||||| 22 45782720 . A T . . ANN=T|sequence_feature|LOW|SMC1B|ENSG00000077935|region_of_interest:Flexible_hinge|ENST00000357450|protein_coding|11/25|c.1911+27T>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|region_of_interest:Flexible_hinge|ENST00000357450|protein_coding|9/25|c.1911+27T>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|region_of_interest:Flexible_hinge|ENST00000357450|protein_coding|12/25|c.1911+27T>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|region_of_interest:Flexible_hinge|ENST00000357450|protein_coding|10/25|c.1911+27T>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|region_of_interest:Flexible_hinge|ENST00000404354|protein_coding|11/23|c.1911+27T>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|region_of_interest:Flexible_hinge|ENST00000404354|protein_coding|9/23|c.1911+27T>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|region_of_interest:Flexible_hinge|ENST00000404354|protein_coding|10/23|c.1911+27T>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|region_of_interest:Flexible_hinge|ENST00000404354|protein_coding|12/23|c.1911+27T>A||||||,T|intron_variant|MODIFIER|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|11/24|c.1911+27T>A||||||,T|intron_variant|MODIFIER|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|11/22|c.1911+27T>A|||||| 22 45782903 . T C . . ANN=C|synonymous_variant|LOW|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|11/25|c.1755A>G|p.Leu585Leu|1755/4201|1755/3708|585/1235||,C|synonymous_variant|LOW|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|11/23|c.1755A>G|p.Leu585Leu|1807/3636|1755/3486|585/1161||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|region_of_interest:Flexible_hinge|ENST00000357450|protein_coding|11/25|c.1755A>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|region_of_interest:Flexible_hinge|ENST00000357450|protein_coding|9/25|c.1755A>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|region_of_interest:Flexible_hinge|ENST00000357450|protein_coding|12/25|c.1755A>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|region_of_interest:Flexible_hinge|ENST00000357450|protein_coding|10/25|c.1755A>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|region_of_interest:Flexible_hinge|ENST00000404354|protein_coding|11/23|c.1755A>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|region_of_interest:Flexible_hinge|ENST00000404354|protein_coding|9/23|c.1755A>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|region_of_interest:Flexible_hinge|ENST00000404354|protein_coding|10/23|c.1755A>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|region_of_interest:Flexible_hinge|ENST00000404354|protein_coding|12/23|c.1755A>G|||||| 22 45785562 . T C . . ANN=C|sequence_feature|LOW|SMC1B|ENSG00000077935|region_of_interest:Flexible_hinge|ENST00000357450|protein_coding|11/25|c.1731+30A>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|region_of_interest:Flexible_hinge|ENST00000357450|protein_coding|9/25|c.1731+30A>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|region_of_interest:Flexible_hinge|ENST00000357450|protein_coding|12/25|c.1731+30A>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|region_of_interest:Flexible_hinge|ENST00000357450|protein_coding|10/25|c.1731+30A>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|region_of_interest:Flexible_hinge|ENST00000404354|protein_coding|11/23|c.1731+30A>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|region_of_interest:Flexible_hinge|ENST00000404354|protein_coding|9/23|c.1731+30A>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|region_of_interest:Flexible_hinge|ENST00000404354|protein_coding|10/23|c.1731+30A>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|region_of_interest:Flexible_hinge|ENST00000404354|protein_coding|12/23|c.1731+30A>G||||||,C|intron_variant|MODIFIER|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|10/24|c.1731+30A>G||||||,C|intron_variant|MODIFIER|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|10/22|c.1731+30A>G|||||| 22 45785574 . G T . . ANN=T|sequence_feature|LOW|SMC1B|ENSG00000077935|region_of_interest:Flexible_hinge|ENST00000357450|protein_coding|11/25|c.1731+18C>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|region_of_interest:Flexible_hinge|ENST00000357450|protein_coding|9/25|c.1731+18C>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|region_of_interest:Flexible_hinge|ENST00000357450|protein_coding|12/25|c.1731+18C>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|region_of_interest:Flexible_hinge|ENST00000357450|protein_coding|10/25|c.1731+18C>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|region_of_interest:Flexible_hinge|ENST00000404354|protein_coding|11/23|c.1731+18C>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|region_of_interest:Flexible_hinge|ENST00000404354|protein_coding|9/23|c.1731+18C>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|region_of_interest:Flexible_hinge|ENST00000404354|protein_coding|10/23|c.1731+18C>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|region_of_interest:Flexible_hinge|ENST00000404354|protein_coding|12/23|c.1731+18C>A||||||,T|intron_variant|MODIFIER|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|10/24|c.1731+18C>A||||||,T|intron_variant|MODIFIER|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|10/22|c.1731+18C>A|||||| 22 45789642 . A C . . ANN=C|missense_variant|MODERATE|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|9/25|c.1417T>G|p.Phe473Val|1417/4201|1417/3708|473/1235||,C|missense_variant|MODERATE|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|9/23|c.1417T>G|p.Phe473Val|1469/3636|1417/3486|473/1161||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|9/25|c.1417T>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|7/25|c.1417T>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|5/25|c.1417T>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|6/25|c.1417T>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|4/25|c.1417T>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|8/25|c.1417T>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|5/23|c.1417T>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|9/23|c.1417T>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|6/23|c.1417T>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|4/23|c.1417T>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|7/23|c.1417T>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|8/23|c.1417T>G|||||| 22 45789743 . T G . . ANN=G|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|9/25|c.1338-22A>C||||||,G|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|7/25|c.1338-22A>C||||||,G|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|5/25|c.1338-22A>C||||||,G|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|6/25|c.1338-22A>C||||||,G|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|4/25|c.1338-22A>C||||||,G|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|8/25|c.1338-22A>C||||||,G|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|5/23|c.1338-22A>C||||||,G|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|9/23|c.1338-22A>C||||||,G|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|6/23|c.1338-22A>C||||||,G|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|4/23|c.1338-22A>C||||||,G|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|7/23|c.1338-22A>C||||||,G|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|8/23|c.1338-22A>C||||||,G|intron_variant|MODIFIER|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|8/24|c.1338-22A>C||||||,G|intron_variant|MODIFIER|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|8/22|c.1338-22A>C|||||| 22 45792291 . G C . . ANN=C|missense_variant|MODERATE|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|7/25|c.1189C>G|p.Gln397Glu|1189/4201|1189/3708|397/1235||,C|missense_variant|MODERATE|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|7/23|c.1189C>G|p.Gln397Glu|1241/3636|1189/3486|397/1161||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|9/25|c.1189C>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|7/25|c.1189C>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|5/25|c.1189C>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|6/25|c.1189C>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|4/25|c.1189C>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|8/25|c.1189C>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|5/23|c.1189C>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|9/23|c.1189C>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|6/23|c.1189C>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|4/23|c.1189C>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|7/23|c.1189C>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|8/23|c.1189C>G|||||| 22 45792359 . C T . . ANN=T|missense_variant|MODERATE|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|7/25|c.1121G>A|p.Arg374His|1121/4201|1121/3708|374/1235||,T|missense_variant|MODERATE|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|7/23|c.1121G>A|p.Arg374His|1173/3636|1121/3486|374/1161||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|9/25|c.1121G>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|7/25|c.1121G>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|5/25|c.1121G>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|6/25|c.1121G>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|4/25|c.1121G>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|8/25|c.1121G>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|5/23|c.1121G>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|9/23|c.1121G>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|6/23|c.1121G>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|4/23|c.1121G>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|7/23|c.1121G>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|8/23|c.1121G>A|||||| 22 45794925 . C A . . ANN=A|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|9/25|c.1113+50G>T||||||,A|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|7/25|c.1113+50G>T||||||,A|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|5/25|c.1113+50G>T||||||,A|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|6/25|c.1113+50G>T||||||,A|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|4/25|c.1113+50G>T||||||,A|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|8/25|c.1113+50G>T||||||,A|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|5/23|c.1113+50G>T||||||,A|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|9/23|c.1113+50G>T||||||,A|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|6/23|c.1113+50G>T||||||,A|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|4/23|c.1113+50G>T||||||,A|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|7/23|c.1113+50G>T||||||,A|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|8/23|c.1113+50G>T||||||,A|intron_variant|MODIFIER|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|6/24|c.1113+50G>T||||||,A|intron_variant|MODIFIER|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|6/22|c.1113+50G>T|||||| 22 45794996 . G A . . ANN=A|synonymous_variant|LOW|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|6/25|c.1092C>T|p.Asp364Asp|1092/4201|1092/3708|364/1235||,A|synonymous_variant|LOW|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|6/23|c.1092C>T|p.Asp364Asp|1144/3636|1092/3486|364/1161||,A|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|9/25|c.1092C>T||||||,A|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|7/25|c.1092C>T||||||,A|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|5/25|c.1092C>T||||||,A|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|6/25|c.1092C>T||||||,A|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|4/25|c.1092C>T||||||,A|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|8/25|c.1092C>T||||||,A|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|5/23|c.1092C>T||||||,A|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|9/23|c.1092C>T||||||,A|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|6/23|c.1092C>T||||||,A|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|4/23|c.1092C>T||||||,A|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|7/23|c.1092C>T||||||,A|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|8/23|c.1092C>T|||||| 22 45795041 . A T . . ANN=T|missense_variant|MODERATE|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|6/25|c.1047T>A|p.Ser349Arg|1047/4201|1047/3708|349/1235||,T|missense_variant|MODERATE|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|6/23|c.1047T>A|p.Ser349Arg|1099/3636|1047/3486|349/1161||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|9/25|c.1047T>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|7/25|c.1047T>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|5/25|c.1047T>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|6/25|c.1047T>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|4/25|c.1047T>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|8/25|c.1047T>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|5/23|c.1047T>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|9/23|c.1047T>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|6/23|c.1047T>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|4/23|c.1047T>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|7/23|c.1047T>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|8/23|c.1047T>A|||||| 22 45795126 . T C . . ANN=C|missense_variant|MODERATE|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|6/25|c.962A>G|p.Asp321Gly|962/4201|962/3708|321/1235||,C|missense_variant|MODERATE|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|6/23|c.962A>G|p.Asp321Gly|1014/3636|962/3486|321/1161||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|9/25|c.962A>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|7/25|c.962A>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|5/25|c.962A>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|6/25|c.962A>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|4/25|c.962A>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|8/25|c.962A>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|5/23|c.962A>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|9/23|c.962A>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|6/23|c.962A>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|4/23|c.962A>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|7/23|c.962A>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|8/23|c.962A>G|||||| 22 45798329 . A G . . ANN=G|synonymous_variant|LOW|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|5/25|c.738T>C|p.Asn246Asn|738/4201|738/3708|246/1235||,G|synonymous_variant|LOW|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|5/23|c.738T>C|p.Asn246Asn|790/3636|738/3486|246/1161||,G|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|9/25|c.738T>C||||||,G|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|7/25|c.738T>C||||||,G|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|5/25|c.738T>C||||||,G|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|6/25|c.738T>C||||||,G|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|4/25|c.738T>C||||||,G|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|8/25|c.738T>C||||||,G|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|5/23|c.738T>C||||||,G|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|9/23|c.738T>C||||||,G|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|6/23|c.738T>C||||||,G|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|4/23|c.738T>C||||||,G|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|7/23|c.738T>C||||||,G|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|8/23|c.738T>C|||||| 22 45798386 . T C . . ANN=C|synonymous_variant|LOW|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|5/25|c.681A>G|p.Gln227Gln|681/4201|681/3708|227/1235||,C|synonymous_variant|LOW|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|5/23|c.681A>G|p.Gln227Gln|733/3636|681/3486|227/1161||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|9/25|c.681A>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|7/25|c.681A>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|5/25|c.681A>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|6/25|c.681A>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|4/25|c.681A>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|8/25|c.681A>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|5/23|c.681A>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|9/23|c.681A>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|6/23|c.681A>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|4/23|c.681A>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|7/23|c.681A>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|8/23|c.681A>G|||||| 22 45802407 . C T . . ANN=T|synonymous_variant|LOW|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|4/25|c.549G>A|p.Gln183Gln|549/4201|549/3708|183/1235||,T|synonymous_variant|LOW|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|4/23|c.549G>A|p.Gln183Gln|601/3636|549/3486|183/1161||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|9/25|c.549G>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|7/25|c.549G>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|5/25|c.549G>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|6/25|c.549G>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|4/25|c.549G>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|8/25|c.549G>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|5/23|c.549G>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|9/23|c.549G>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|6/23|c.549G>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|4/23|c.549G>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|7/23|c.549G>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|8/23|c.549G>A|||||| 22 45802704 . C T . . ANN=T|missense_variant|MODERATE|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|3/25|c.341G>A|p.Arg114His|341/4201|341/3708|114/1235||,T|missense_variant|MODERATE|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|3/23|c.341G>A|p.Arg114His|393/3636|341/3486|114/1161|| 22 45802760 . AT A . . ANN=|intron_variant|MODIFIER|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|2/24|c.299-15delA||||||,|intron_variant|MODIFIER|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|2/22|c.299-15delA|||||| 22 45802789 . C A . . ANN=A|intron_variant|MODIFIER|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|2/24|c.299-43G>T||||||,A|intron_variant|MODIFIER|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|2/22|c.299-43G>T|||||| 22 45804568 . GA G . . ANN=|intron_variant|MODIFIER|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|2/24|c.298+22delT||||||,|intron_variant|MODIFIER|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|2/22|c.298+22delT|||||| 22 45804621 . C T . . ANN=T|missense_variant|MODERATE|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|2/25|c.268G>A|p.Glu90Lys|268/4201|268/3708|90/1235||,T|missense_variant|MODERATE|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|2/23|c.268G>A|p.Glu90Lys|320/3636|268/3486|90/1161||,T|upstream_gene_variant|MODIFIER|RIBC2|ENSG00000128408|transcript|ENST00000538017|protein_coding||c.-210C>T|||||4953|,T|upstream_gene_variant|MODIFIER|RIBC2|ENSG00000128408|transcript|ENST00000342894|protein_coding||c.-415C>T|||||4951| 22 45804825 . A C . . ANN=C|sequence_feature|LOW|SMC1B|ENSG00000077935|nucleotide_phosphate-binding_region:ATP|ENST00000357450|protein_coding|1/25|c.110-46T>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|nucleotide_phosphate-binding_region:ATP|ENST00000357450|protein_coding|2/25|c.110-46T>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|nucleotide_phosphate-binding_region:ATP|ENST00000404354|protein_coding|1/23|c.110-46T>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|nucleotide_phosphate-binding_region:ATP|ENST00000404354|protein_coding|2/23|c.110-46T>G||||||,C|upstream_gene_variant|MODIFIER|RIBC2|ENSG00000128408|transcript|ENST00000538017|protein_coding||c.-210A>C|||||4749|,C|upstream_gene_variant|MODIFIER|RIBC2|ENSG00000128408|transcript|ENST00000342894|protein_coding||c.-415A>C|||||4747|,C|intron_variant|MODIFIER|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|1/24|c.110-46T>G||||||,C|intron_variant|MODIFIER|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|1/22|c.110-46T>G|||||| 22 45809325 . G A . . ANN=A|sequence_feature|LOW|SMC1B|ENSG00000077935|nucleotide_phosphate-binding_region:ATP|ENST00000357450|protein_coding|1/25|c.109+15C>T||||||,A|sequence_feature|LOW|SMC1B|ENSG00000077935|nucleotide_phosphate-binding_region:ATP|ENST00000357450|protein_coding|2/25|c.109+15C>T||||||,A|sequence_feature|LOW|SMC1B|ENSG00000077935|nucleotide_phosphate-binding_region:ATP|ENST00000404354|protein_coding|1/23|c.109+15C>T||||||,A|sequence_feature|LOW|SMC1B|ENSG00000077935|nucleotide_phosphate-binding_region:ATP|ENST00000404354|protein_coding|2/23|c.109+15C>T||||||,A|upstream_gene_variant|MODIFIER|RIBC2|ENSG00000128408|transcript|ENST00000538017|protein_coding||c.-210G>A|||||249|,A|upstream_gene_variant|MODIFIER|RIBC2|ENSG00000128408|transcript|ENST00000342894|protein_coding||c.-415G>A|||||247|,A|upstream_gene_variant|MODIFIER|RIBC2|ENSG00000128408|transcript|ENST00000498265|retained_intron||n.-1G>A|||||879|,A|upstream_gene_variant|MODIFIER|RIBC2|ENSG00000128408|transcript|ENST00000466226|processed_transcript||n.-1G>A|||||4562|,A|intron_variant|MODIFIER|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|1/24|c.109+15C>T||||||,A|intron_variant|MODIFIER|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|1/22|c.109+15C>T|||||| 22 45809431 . C T . . ANN=T|synonymous_variant|LOW|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|1/25|c.18G>A|p.Leu6Leu|18/4201|18/3708|6/1235||,T|synonymous_variant|LOW|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|1/23|c.18G>A|p.Leu6Leu|70/3636|18/3486|6/1161||,T|upstream_gene_variant|MODIFIER|RIBC2|ENSG00000128408|transcript|ENST00000538017|protein_coding||c.-210C>T|||||143|,T|upstream_gene_variant|MODIFIER|RIBC2|ENSG00000128408|transcript|ENST00000342894|protein_coding||c.-415C>T|||||141|,T|upstream_gene_variant|MODIFIER|RIBC2|ENSG00000128408|transcript|ENST00000498265|retained_intron||n.-1C>T|||||773|,T|upstream_gene_variant|MODIFIER|RIBC2|ENSG00000128408|transcript|ENST00000466226|processed_transcript||n.-1C>T|||||4456| 22 45914528 . A G . . ANN=G|sequence_feature|LOW|FBLN1|ENSG00000077942|signal_peptide|ENST00000262722|protein_coding|2/15|c.80-34A>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|signal_peptide|ENST00000262722|protein_coding|1/15|c.80-34A>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|signal_peptide|ENST00000327858|protein_coding|1/17|c.80-34A>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|signal_peptide|ENST00000327858|protein_coding|2/17|c.80-34A>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|signal_peptide|ENST00000442170|protein_coding|1/15|c.80-34A>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|signal_peptide|ENST00000442170|protein_coding|2/15|c.80-34A>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|signal_peptide|ENST00000340923|protein_coding|2/15|c.80-34A>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|signal_peptide|ENST00000340923|protein_coding|1/15|c.80-34A>G||||||,G|5_prime_UTR_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000454279|protein_coding|1/4|c.-81A>G|||||81|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000451475|protein_coding||c.-1A>G|||||135|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|1/15|c.80-34A>G||||||,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000411478|protein_coding|1/4|c.104-34A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000445110|protein_coding|2/3|c.-47-34A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000455233|protein_coding|1/4|c.80-34A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|1/19|c.80-34A>G||||||,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|1/14|c.80-34A>G||||||,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|1/16|c.80-34A>G||||||,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|1/14|c.80-34A>G||||||,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|1/14|c.80-34A>G||||||,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000439835|protein_coding|1/2|c.-47-34A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000450975|protein_coding|1/1|c.107-34A>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 45914534 . C T . . ANN=T|sequence_feature|LOW|FBLN1|ENSG00000077942|signal_peptide|ENST00000262722|protein_coding|2/15|c.80-28C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|signal_peptide|ENST00000262722|protein_coding|1/15|c.80-28C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|signal_peptide|ENST00000327858|protein_coding|1/17|c.80-28C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|signal_peptide|ENST00000327858|protein_coding|2/17|c.80-28C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|signal_peptide|ENST00000442170|protein_coding|1/15|c.80-28C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|signal_peptide|ENST00000442170|protein_coding|2/15|c.80-28C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|signal_peptide|ENST00000340923|protein_coding|2/15|c.80-28C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|signal_peptide|ENST00000340923|protein_coding|1/15|c.80-28C>T||||||,T|5_prime_UTR_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000454279|protein_coding|1/4|c.-75C>T|||||75|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000451475|protein_coding||c.-1C>T|||||129|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|1/15|c.80-28C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000411478|protein_coding|1/4|c.104-28C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000445110|protein_coding|2/3|c.-47-28C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000455233|protein_coding|1/4|c.80-28C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|1/19|c.80-28C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|1/14|c.80-28C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|1/16|c.80-28C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|1/14|c.80-28C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|1/14|c.80-28C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000439835|protein_coding|1/2|c.-47-28C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000450975|protein_coding|1/1|c.107-28C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 45914541 . C T . . ANN=T|sequence_feature|LOW|FBLN1|ENSG00000077942|signal_peptide|ENST00000262722|protein_coding|2/15|c.80-21C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|signal_peptide|ENST00000262722|protein_coding|1/15|c.80-21C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|signal_peptide|ENST00000327858|protein_coding|1/17|c.80-21C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|signal_peptide|ENST00000327858|protein_coding|2/17|c.80-21C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|signal_peptide|ENST00000442170|protein_coding|1/15|c.80-21C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|signal_peptide|ENST00000442170|protein_coding|2/15|c.80-21C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|signal_peptide|ENST00000340923|protein_coding|2/15|c.80-21C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|signal_peptide|ENST00000340923|protein_coding|1/15|c.80-21C>T||||||,T|5_prime_UTR_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000454279|protein_coding|1/4|c.-68C>T|||||68|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000451475|protein_coding||c.-1C>T|||||122|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|1/15|c.80-21C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000411478|protein_coding|1/4|c.104-21C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000445110|protein_coding|2/3|c.-47-21C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000455233|protein_coding|1/4|c.80-21C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|1/19|c.80-21C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|1/14|c.80-21C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|1/16|c.80-21C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|1/14|c.80-21C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|1/14|c.80-21C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000439835|protein_coding|1/2|c.-47-21C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000450975|protein_coding|1/1|c.107-21C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 45914595 . C T . . ANN=T|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|2/16|c.113C>T|p.Ala38Val|216/2355|113/2166|38/721||,T|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000411478|protein_coding|2/5|c.137C>T|p.Ala46Val|137/568|137/568|46/188||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000455233|protein_coding|2/5|c.113C>T|p.Ala38Val|267/671|113/517|38/171||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|2/20|c.113C>T|p.Ala38Val|260/2947|113/2112|38/703||,T|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|2/15|c.113C>T|p.Ala38Val|216/2251|113/2052|38/683||,T|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|2/17|c.113C>T|p.Ala38Val|208/2896|113/2112|38/703||,T|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|2/15|c.113C>T|p.Ala38Val|129/2531|113/1806|38/601||,T|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|2/15|c.113C>T|p.Ala38Val|123/2348|113/1701|38/566||,T|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000450975|protein_coding|2/2|c.140C>T|p.Ala47Val|388/459|140/211|47/69||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000262722|protein_coding|2/15|c.113C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_1|ENST00000262722|protein_coding|2/15|c.113C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_1|ENST00000262722|protein_coding|3/15|c.113C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000262722|protein_coding|3/15|c.113C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|2/17|c.113C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_1|ENST00000327858|protein_coding|2/17|c.113C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_1|ENST00000327858|protein_coding|3/17|c.113C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|3/17|c.113C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000442170|protein_coding|2/15|c.113C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_1|ENST00000442170|protein_coding|2/15|c.113C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_1|ENST00000442170|protein_coding|3/15|c.113C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000442170|protein_coding|3/15|c.113C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000340923|protein_coding|2/15|c.113C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_1|ENST00000340923|protein_coding|2/15|c.113C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_1|ENST00000340923|protein_coding|3/15|c.113C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000340923|protein_coding|3/15|c.113C>T||||||,T|5_prime_UTR_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000445110|protein_coding|3/4|c.-14C>T|||||14|WARNING_TRANSCRIPT_NO_STOP_CODON,T|5_prime_UTR_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000439835|protein_coding|2/3|c.-14C>T|||||14|WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000454279|protein_coding|1/4|c.-14C>T|||||14|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000451475|protein_coding||c.-1C>T|||||68|WARNING_TRANSCRIPT_INCOMPLETE 22 45914671 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|2/15|c.185+4C>T||||||,T|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000411478|protein_coding|2/4|c.209+4C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000445110|protein_coding|3/3|c.59+4C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000455233|protein_coding|2/4|c.185+4C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|2/19|c.185+4C>T||||||,T|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|2/14|c.185+4C>T||||||,T|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|2/16|c.185+4C>T||||||,T|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|2/14|c.185+4C>T||||||,T|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|2/14|c.185+4C>T||||||,T|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000439835|protein_coding|2/2|c.59+4C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000454279|protein_coding|1/3|c.59+4C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000451475|protein_coding|1/4|c.5+4C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_1|ENST00000262722|protein_coding|2/15|c.185+4C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_1|ENST00000262722|protein_coding|3/15|c.185+4C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000262722|protein_coding|2/15|c.185+4C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000262722|protein_coding|3/15|c.185+4C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_1|ENST00000327858|protein_coding|2/17|c.185+4C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_1|ENST00000327858|protein_coding|3/17|c.185+4C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|2/17|c.185+4C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|3/17|c.185+4C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_1|ENST00000442170|protein_coding|2/15|c.185+4C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_1|ENST00000442170|protein_coding|3/15|c.185+4C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000442170|protein_coding|2/15|c.185+4C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000442170|protein_coding|3/15|c.185+4C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_1|ENST00000340923|protein_coding|2/15|c.185+4C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_1|ENST00000340923|protein_coding|3/15|c.185+4C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000340923|protein_coding|2/15|c.185+4C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000340923|protein_coding|3/15|c.185+4C>T||||||,T|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000450975|protein_coding||c.*459C>T|||||5|WARNING_TRANSCRIPT_INCOMPLETE 22 45914675 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|2/15|c.185+8T>C||||||,C|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000411478|protein_coding|2/4|c.209+8T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000445110|protein_coding|3/3|c.59+8T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000455233|protein_coding|2/4|c.185+8T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|2/19|c.185+8T>C||||||,C|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|2/14|c.185+8T>C||||||,C|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|2/16|c.185+8T>C||||||,C|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|2/14|c.185+8T>C||||||,C|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|2/14|c.185+8T>C||||||,C|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000439835|protein_coding|2/2|c.59+8T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000454279|protein_coding|1/3|c.59+8T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000451475|protein_coding|1/4|c.5+8T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_1|ENST00000262722|protein_coding|2/15|c.185+8T>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_1|ENST00000262722|protein_coding|3/15|c.185+8T>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000262722|protein_coding|2/15|c.185+8T>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000262722|protein_coding|3/15|c.185+8T>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_1|ENST00000327858|protein_coding|2/17|c.185+8T>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_1|ENST00000327858|protein_coding|3/17|c.185+8T>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|2/17|c.185+8T>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|3/17|c.185+8T>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_1|ENST00000442170|protein_coding|2/15|c.185+8T>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_1|ENST00000442170|protein_coding|3/15|c.185+8T>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000442170|protein_coding|2/15|c.185+8T>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000442170|protein_coding|3/15|c.185+8T>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_1|ENST00000340923|protein_coding|2/15|c.185+8T>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_1|ENST00000340923|protein_coding|3/15|c.185+8T>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000340923|protein_coding|2/15|c.185+8T>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000340923|protein_coding|3/15|c.185+8T>C||||||,C|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000450975|protein_coding||c.*459T>C|||||9|WARNING_TRANSCRIPT_INCOMPLETE 22 45914692 . T G . . ANN=G|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_1|ENST00000262722|protein_coding|2/15|c.185+25T>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_1|ENST00000262722|protein_coding|3/15|c.185+25T>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000262722|protein_coding|2/15|c.185+25T>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000262722|protein_coding|3/15|c.185+25T>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_1|ENST00000327858|protein_coding|2/17|c.185+25T>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_1|ENST00000327858|protein_coding|3/17|c.185+25T>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|2/17|c.185+25T>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|3/17|c.185+25T>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_1|ENST00000442170|protein_coding|2/15|c.185+25T>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_1|ENST00000442170|protein_coding|3/15|c.185+25T>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000442170|protein_coding|2/15|c.185+25T>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000442170|protein_coding|3/15|c.185+25T>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_1|ENST00000340923|protein_coding|2/15|c.185+25T>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_1|ENST00000340923|protein_coding|3/15|c.185+25T>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000340923|protein_coding|2/15|c.185+25T>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000340923|protein_coding|3/15|c.185+25T>G||||||,G|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000450975|protein_coding||c.*459T>G|||||26|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|2/15|c.185+25T>G||||||,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000411478|protein_coding|2/4|c.209+25T>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000445110|protein_coding|3/3|c.59+25T>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000455233|protein_coding|2/4|c.185+25T>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|2/19|c.185+25T>G||||||,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|2/14|c.185+25T>G||||||,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|2/16|c.185+25T>G||||||,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|2/14|c.185+25T>G||||||,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|2/14|c.185+25T>G||||||,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000439835|protein_coding|2/2|c.59+25T>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000454279|protein_coding|1/3|c.59+25T>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000451475|protein_coding|1/4|c.5+25T>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 45914714 . G C . . ANN=C|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_1|ENST00000262722|protein_coding|2/15|c.185+47G>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_1|ENST00000262722|protein_coding|3/15|c.185+47G>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000262722|protein_coding|2/15|c.185+47G>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000262722|protein_coding|3/15|c.185+47G>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_1|ENST00000327858|protein_coding|2/17|c.185+47G>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_1|ENST00000327858|protein_coding|3/17|c.185+47G>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|2/17|c.185+47G>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|3/17|c.185+47G>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_1|ENST00000442170|protein_coding|2/15|c.185+47G>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_1|ENST00000442170|protein_coding|3/15|c.185+47G>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000442170|protein_coding|2/15|c.185+47G>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000442170|protein_coding|3/15|c.185+47G>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_1|ENST00000340923|protein_coding|2/15|c.185+47G>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_1|ENST00000340923|protein_coding|3/15|c.185+47G>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000340923|protein_coding|2/15|c.185+47G>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000340923|protein_coding|3/15|c.185+47G>C||||||,C|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000450975|protein_coding||c.*459G>C|||||48|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|2/15|c.185+47G>C||||||,C|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000411478|protein_coding|2/4|c.209+47G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000445110|protein_coding|3/3|c.59+47G>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000455233|protein_coding|2/4|c.185+47G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|2/19|c.185+47G>C||||||,C|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|2/14|c.185+47G>C||||||,C|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|2/16|c.185+47G>C||||||,C|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|2/14|c.185+47G>C||||||,C|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|2/14|c.185+47G>C||||||,C|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000439835|protein_coding|2/2|c.59+47G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000454279|protein_coding|1/3|c.59+47G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000451475|protein_coding|1/4|c.5+47G>C||||||WARNING_TRANSCRIPT_INCOMPLETE 22 45921549 . A G . . ANN=G|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|4/16|c.426A>G|p.Thr142Thr|529/2355|426/2166|142/721||,G|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000411478|protein_coding|3/5|c.336A>G|p.Thr112Thr|336/568|336/568|112/188||WARNING_TRANSCRIPT_INCOMPLETE,G|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000445110|protein_coding|4/4|c.186A>G|p.Thr62Thr|503/512|186/195|62/64||WARNING_TRANSCRIPT_NO_STOP_CODON,G|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000455233|protein_coding|3/5|c.312A>G|p.Thr104Thr|466/671|312/517|104/171||WARNING_TRANSCRIPT_INCOMPLETE,G|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|3/20|c.312A>G|p.Thr104Thr|459/2947|312/2112|104/703||,G|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|3/15|c.312A>G|p.Thr104Thr|415/2251|312/2052|104/683||,G|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|3/17|c.312A>G|p.Thr104Thr|407/2896|312/2112|104/703||,G|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|3/15|c.312A>G|p.Thr104Thr|328/2531|312/1806|104/601||,G|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|3/15|c.312A>G|p.Thr104Thr|322/2348|312/1701|104/566||,G|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000454279|protein_coding|2/4|c.186A>G|p.Thr62Thr|333/565|186/418|62/138||WARNING_TRANSCRIPT_INCOMPLETE,G|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000451475|protein_coding|2/5|c.132A>G|p.Thr44Thr|132/544|132/544|44/180||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_2|ENST00000262722|protein_coding|4/15|c.312A>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_2|ENST00000262722|protein_coding|3/15|c.312A>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000262722|protein_coding|4/15|c.312A>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000262722|protein_coding|3/15|c.312A>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_2|ENST00000327858|protein_coding|4/17|c.312A>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_2|ENST00000327858|protein_coding|3/17|c.312A>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|4/17|c.312A>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|3/17|c.312A>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_2|ENST00000442170|protein_coding|4/15|c.312A>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_2|ENST00000442170|protein_coding|3/15|c.312A>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000442170|protein_coding|4/15|c.312A>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000442170|protein_coding|3/15|c.312A>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_2|ENST00000340923|protein_coding|4/15|c.312A>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_2|ENST00000340923|protein_coding|3/15|c.312A>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000340923|protein_coding|4/15|c.312A>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000340923|protein_coding|3/15|c.312A>G||||||,G|upstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000437711|nonsense_mediated_decay||n.-2A>G|||||6|,G|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000439835|protein_coding||c.*572A>G|||||106|WARNING_TRANSCRIPT_INCOMPLETE 22 45923827 . A G . . ANN=G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|5/16|c.536A>G|p.Gln179Arg|639/2355|536/2166|179/721||,G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000411478|protein_coding|4/5|c.446A>G|p.Gln149Arg|446/568|446/568|149/188||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000455233|protein_coding|4/5|c.422A>G|p.Gln141Arg|576/671|422/517|141/171||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|4/20|c.422A>G|p.Gln141Arg|569/2947|422/2112|141/703||,G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|4/15|c.422A>G|p.Gln141Arg|525/2251|422/2052|141/683||,G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|4/17|c.422A>G|p.Gln141Arg|517/2896|422/2112|141/703||,G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|4/15|c.422A>G|p.Gln141Arg|438/2531|422/1806|141/601||,G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|4/15|c.422A>G|p.Gln141Arg|432/2348|422/1701|141/566||,G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000454279|protein_coding|3/4|c.296A>G|p.Gln99Arg|443/565|296/418|99/138||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000451475|protein_coding|3/5|c.242A>G|p.Gln81Arg|242/544|242/544|81/180||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_3|ENST00000262722|protein_coding|4/15|c.422A>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000262722|protein_coding|4/15|c.422A>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_3|ENST00000327858|protein_coding|4/17|c.422A>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|4/17|c.422A>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_3|ENST00000442170|protein_coding|4/15|c.422A>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000442170|protein_coding|4/15|c.422A>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_3|ENST00000340923|protein_coding|4/15|c.422A>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000340923|protein_coding|4/15|c.422A>G||||||,G|upstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000460538|retained_intron||n.-1A>G|||||4946|,G|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000445110|protein_coding||c.*512A>G|||||2269|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000439835|protein_coding||c.*572A>G|||||2384|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000437711|nonsense_mediated_decay|2/8|n.104A>G|||||| 22 45923870 . C T . . ANN=T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|5/16|c.579C>T|p.Val193Val|682/2355|579/2166|193/721||,T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000411478|protein_coding|4/5|c.489C>T|p.Val163Val|489/568|489/568|163/188||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000455233|protein_coding|4/5|c.465C>T|p.Val155Val|619/671|465/517|155/171||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|4/20|c.465C>T|p.Val155Val|612/2947|465/2112|155/703||,T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|4/15|c.465C>T|p.Val155Val|568/2251|465/2052|155/683||,T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|4/17|c.465C>T|p.Val155Val|560/2896|465/2112|155/703||,T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|4/15|c.465C>T|p.Val155Val|481/2531|465/1806|155/601||,T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|4/15|c.465C>T|p.Val155Val|475/2348|465/1701|155/566||,T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000454279|protein_coding|3/4|c.339C>T|p.Val113Val|486/565|339/418|113/138||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000451475|protein_coding|3/5|c.285C>T|p.Val95Val|285/544|285/544|95/180||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000460538|retained_intron||n.-1C>T|||||4903|,T|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000445110|protein_coding||c.*512C>T|||||2312|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000439835|protein_coding||c.*572C>T|||||2427|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000437711|nonsense_mediated_decay|2/8|n.147C>T|||||| 22 45923886 . A G . . ANN=G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|5/16|c.595A>G|p.Thr199Ala|698/2355|595/2166|199/721||,G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000411478|protein_coding|4/5|c.505A>G|p.Thr169Ala|505/568|505/568|169/188||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000455233|protein_coding|4/5|c.481A>G|p.Thr161Ala|635/671|481/517|161/171||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|4/20|c.481A>G|p.Thr161Ala|628/2947|481/2112|161/703||,G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|4/15|c.481A>G|p.Thr161Ala|584/2251|481/2052|161/683||,G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|4/17|c.481A>G|p.Thr161Ala|576/2896|481/2112|161/703||,G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|4/15|c.481A>G|p.Thr161Ala|497/2531|481/1806|161/601||,G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|4/15|c.481A>G|p.Thr161Ala|491/2348|481/1701|161/566||,G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000454279|protein_coding|3/4|c.355A>G|p.Thr119Ala|502/565|355/418|119/138||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000451475|protein_coding|3/5|c.301A>G|p.Thr101Ala|301/544|301/544|101/180||WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000460538|retained_intron||n.-1A>G|||||4887|,G|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000445110|protein_coding||c.*512A>G|||||2328|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000439835|protein_coding||c.*572A>G|||||2443|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000437711|nonsense_mediated_decay|2/8|n.163A>G|||||| 22 45923894 . C A . . ANN=A|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|5/15|c.598+5C>A||||||,A|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000411478|protein_coding|4/4|c.508+5C>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000455233|protein_coding|4/4|c.484+5C>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|4/19|c.484+5C>A||||||,A|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|4/14|c.484+5C>A||||||,A|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|4/16|c.484+5C>A||||||,A|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|4/14|c.484+5C>A||||||,A|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|4/14|c.484+5C>A||||||,A|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000454279|protein_coding|3/3|c.358+5C>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000451475|protein_coding|3/4|c.304+5C>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000437711|nonsense_mediated_decay|2/7|n.166+5C>A||||||,A|upstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000460538|retained_intron||n.-1C>A|||||4879|,A|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000445110|protein_coding||c.*512C>A|||||2336|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000439835|protein_coding||c.*572C>A|||||2451|WARNING_TRANSCRIPT_INCOMPLETE 22 45923937 . C T . . ANN=T|upstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000460538|retained_intron||n.-1C>T|||||4836|,T|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000445110|protein_coding||c.*512C>T|||||2379|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000439835|protein_coding||c.*572C>T|||||2494|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|5/15|c.598+48C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000411478|protein_coding|4/4|c.508+48C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000455233|protein_coding|4/4|c.484+48C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|4/19|c.484+48C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|4/14|c.484+48C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|4/16|c.484+48C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|4/14|c.484+48C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|4/14|c.484+48C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000454279|protein_coding|3/3|c.358+48C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000451475|protein_coding|3/4|c.304+48C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000437711|nonsense_mediated_decay|2/7|n.166+48C>T|||||| 22 45927112 . A G . . ANN=G|upstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000460538|retained_intron||n.-1A>G|||||1661|,G|upstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000465578|retained_intron||n.-1A>G|||||1919|,G|upstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000484531|retained_intron||n.-1A>G|||||2549|,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|5/15|c.599-33A>G||||||,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000411478|protein_coding|4/4|c.509-33A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000455233|protein_coding|4/4|c.485-1831A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|4/19|c.485-33A>G||||||,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|4/14|c.485-33A>G||||||,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|4/16|c.485-33A>G||||||,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|4/14|c.485-33A>G||||||,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|4/14|c.485-33A>G||||||,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000454279|protein_coding|3/3|c.359-33A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000451475|protein_coding|3/4|c.305-1831A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000437711|nonsense_mediated_decay|2/7|n.167-33A>G|||||| 22 45927150 . A G . . ANN=G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|6/16|c.604A>G|p.Ile202Val|707/2355|604/2166|202/721||,G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000411478|protein_coding|5/5|c.514A>G|p.Ile172Val|514/568|514/568|172/188||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|5/20|c.490A>G|p.Ile164Val|637/2947|490/2112|164/703||,G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|5/15|c.490A>G|p.Ile164Val|593/2251|490/2052|164/683||,G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|5/17|c.490A>G|p.Ile164Val|585/2896|490/2112|164/703||,G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|5/15|c.490A>G|p.Ile164Val|506/2531|490/1806|164/601||,G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|5/15|c.490A>G|p.Ile164Val|500/2348|490/1701|164/566||,G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000454279|protein_coding|4/4|c.364A>G|p.Ile122Val|511/565|364/418|122/138||WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000460538|retained_intron||n.-1A>G|||||1623|,G|upstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000465578|retained_intron||n.-1A>G|||||1881|,G|upstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000484531|retained_intron||n.-1A>G|||||2511|,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000455233|protein_coding|4/4|c.485-1793A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000451475|protein_coding|3/4|c.305-1793A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000437711|nonsense_mediated_decay|3/8|n.172A>G|||||| 22 45927220 . C G . . ANN=G|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_1|ENST00000262722|protein_coding|6/15|c.544+16C>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_1|ENST00000262722|protein_coding|5/15|c.544+16C>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000262722|protein_coding|6/15|c.544+16C>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000262722|protein_coding|5/15|c.544+16C>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_1|ENST00000327858|protein_coding|6/17|c.544+16C>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_1|ENST00000327858|protein_coding|5/17|c.544+16C>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|6/17|c.544+16C>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|5/17|c.544+16C>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_1|ENST00000442170|protein_coding|6/15|c.544+16C>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_1|ENST00000442170|protein_coding|5/15|c.544+16C>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000442170|protein_coding|6/15|c.544+16C>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000442170|protein_coding|5/15|c.544+16C>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_1|ENST00000340923|protein_coding|6/15|c.544+16C>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_1|ENST00000340923|protein_coding|5/15|c.544+16C>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000340923|protein_coding|6/15|c.544+16C>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000340923|protein_coding|5/15|c.544+16C>G||||||,G|upstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000460538|retained_intron||n.-1C>G|||||1553|,G|upstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000465578|retained_intron||n.-1C>G|||||1811|,G|upstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000484531|retained_intron||n.-1C>G|||||2441|,G|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000411478|protein_coding||c.*568C>G|||||16|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000454279|protein_coding||c.*565C>G|||||16|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|6/15|c.658+16C>G||||||,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000455233|protein_coding|4/4|c.485-1723C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|5/19|c.544+16C>G||||||,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|5/14|c.544+16C>G||||||,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|5/16|c.544+16C>G||||||,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|5/14|c.544+16C>G||||||,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|5/14|c.544+16C>G||||||,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000451475|protein_coding|3/4|c.305-1723C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000437711|nonsense_mediated_decay|3/7|n.226+16C>G|||||| 22 45928895 . C A . . ANN=A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_1|ENST00000262722|protein_coding|6/15|c.545-48C>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_1|ENST00000262722|protein_coding|5/15|c.545-48C>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000262722|protein_coding|6/15|c.545-48C>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000262722|protein_coding|5/15|c.545-48C>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_1|ENST00000327858|protein_coding|6/17|c.545-48C>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_1|ENST00000327858|protein_coding|5/17|c.545-48C>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|6/17|c.545-48C>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|5/17|c.545-48C>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_1|ENST00000442170|protein_coding|6/15|c.545-48C>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_1|ENST00000442170|protein_coding|5/15|c.545-48C>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000442170|protein_coding|6/15|c.545-48C>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000442170|protein_coding|5/15|c.545-48C>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_1|ENST00000340923|protein_coding|6/15|c.545-48C>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_1|ENST00000340923|protein_coding|5/15|c.545-48C>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000340923|protein_coding|6/15|c.545-48C>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000340923|protein_coding|5/15|c.545-48C>A||||||,A|upstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000465578|retained_intron||n.-1C>A|||||136|,A|upstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000484531|retained_intron||n.-1C>A|||||766|,A|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000411478|protein_coding||c.*568C>A|||||1691|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000454279|protein_coding||c.*565C>A|||||1691|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|6/15|c.659-48C>A||||||,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000455233|protein_coding|4/4|c.485-48C>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|5/19|c.545-48C>A||||||,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|5/14|c.545-48C>A||||||,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|5/16|c.545-48C>A||||||,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|5/14|c.545-48C>A||||||,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|5/14|c.545-48C>A||||||,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000451475|protein_coding|3/4|c.305-48C>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000437711|nonsense_mediated_decay|3/7|n.227-48C>A||||||,A|non_coding_exon_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000460538|retained_intron|1/4|n.123C>A|||||| 22 45928950 . G A . . ANN=A|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|7/16|c.666G>A|p.Gly222Gly|769/2355|666/2166|222/721||,A|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000455233|protein_coding|5/5|c.492G>A|p.Gly164Gly|646/671|492/517|164/171||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|6/20|c.552G>A|p.Gly184Gly|699/2947|552/2112|184/703||,A|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|6/15|c.552G>A|p.Gly184Gly|655/2251|552/2052|184/683||,A|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|6/17|c.552G>A|p.Gly184Gly|647/2896|552/2112|184/703||,A|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|6/15|c.552G>A|p.Gly184Gly|568/2531|552/1806|184/601||,A|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|6/15|c.552G>A|p.Gly184Gly|562/2348|552/1701|184/566||,A|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000451475|protein_coding|4/5|c.312G>A|p.Gly104Gly|312/544|312/544|104/180||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_1|ENST00000262722|protein_coding|6/15|c.552G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_1|ENST00000262722|protein_coding|5/15|c.552G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000262722|protein_coding|6/15|c.552G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000262722|protein_coding|5/15|c.552G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_1|ENST00000327858|protein_coding|6/17|c.552G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_1|ENST00000327858|protein_coding|5/17|c.552G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|6/17|c.552G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|5/17|c.552G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_1|ENST00000442170|protein_coding|6/15|c.552G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_1|ENST00000442170|protein_coding|5/15|c.552G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000442170|protein_coding|6/15|c.552G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000442170|protein_coding|5/15|c.552G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_1|ENST00000340923|protein_coding|6/15|c.552G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_1|ENST00000340923|protein_coding|5/15|c.552G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000340923|protein_coding|6/15|c.552G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000340923|protein_coding|5/15|c.552G>A||||||,A|upstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000465578|retained_intron||n.-1G>A|||||81|,A|upstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000484531|retained_intron||n.-1G>A|||||711|,A|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000411478|protein_coding||c.*568G>A|||||1746|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000454279|protein_coding||c.*565G>A|||||1746|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000437711|nonsense_mediated_decay|4/8|n.234G>A||||||,A|non_coding_exon_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000460538|retained_intron|1/4|n.178G>A|||||| 22 45929080 . C T . . ANN=T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_2|ENST00000262722|protein_coding|6/15|c.646+36C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_2|ENST00000262722|protein_coding|7/15|c.646+36C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_2|ENST00000327858|protein_coding|6/17|c.646+36C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_2|ENST00000327858|protein_coding|7/17|c.646+36C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_2|ENST00000442170|protein_coding|6/15|c.646+36C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_2|ENST00000442170|protein_coding|7/15|c.646+36C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_2|ENST00000340923|protein_coding|6/15|c.646+36C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_2|ENST00000340923|protein_coding|7/15|c.646+36C>T||||||,T|upstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000484531|retained_intron||n.-1C>T|||||581|,T|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000411478|protein_coding||c.*568C>T|||||1876|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000455233|protein_coding||c.*671C>T|||||105|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000454279|protein_coding||c.*565C>T|||||1876|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|7/15|c.760+36C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|6/19|c.646+36C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|6/14|c.646+36C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|6/16|c.646+36C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|6/14|c.646+36C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|6/14|c.646+36C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000451475|protein_coding|4/4|c.406+36C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000437711|nonsense_mediated_decay|4/7|n.328+36C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000460538|retained_intron|1/3|n.272+36C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000465578|retained_intron|1/2|n.14+36C>T|||||| 22 45929594 . TG T . . ANN=|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_2|ENST00000262722|protein_coding|6/15|c.647-46delG||||||,|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_2|ENST00000262722|protein_coding|7/15|c.647-46delG||||||,|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_2|ENST00000327858|protein_coding|6/17|c.647-46delG||||||,|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_2|ENST00000327858|protein_coding|7/17|c.647-46delG||||||,|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_2|ENST00000442170|protein_coding|6/15|c.647-46delG||||||,|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_2|ENST00000442170|protein_coding|7/15|c.647-46delG||||||,|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_2|ENST00000340923|protein_coding|6/15|c.647-46delG||||||,|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_2|ENST00000340923|protein_coding|7/15|c.647-46delG||||||,|upstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000484531|retained_intron||n.-1delG|||||66|,|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000411478|protein_coding||c.*568delG|||||2391|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000455233|protein_coding||c.*671delG|||||620|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000454279|protein_coding||c.*565delG|||||2391|WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|7/15|c.761-44delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|6/19|c.647-44delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|6/14|c.647-44delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|6/16|c.647-44delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|6/14|c.647-44delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|6/14|c.647-44delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000451475|protein_coding|4/4|c.407-44delG||||||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000437711|nonsense_mediated_decay|4/7|n.329-44delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000460538|retained_intron|1/3|n.273-44delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000465578|retained_intron|1/2|n.15-44delG||||||INFO_REALIGN_3_PRIME 22 45929597 . GT G . . ANN=|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_2|ENST00000262722|protein_coding|6/15|c.647-43delT||||||,|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_2|ENST00000262722|protein_coding|7/15|c.647-43delT||||||,|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_2|ENST00000327858|protein_coding|6/17|c.647-43delT||||||,|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_2|ENST00000327858|protein_coding|7/17|c.647-43delT||||||,|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_2|ENST00000442170|protein_coding|6/15|c.647-43delT||||||,|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_2|ENST00000442170|protein_coding|7/15|c.647-43delT||||||,|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_2|ENST00000340923|protein_coding|6/15|c.647-43delT||||||,|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_2|ENST00000340923|protein_coding|7/15|c.647-43delT||||||,|upstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000484531|retained_intron||n.-1delT|||||63|,|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000411478|protein_coding||c.*568delT|||||2394|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000455233|protein_coding||c.*671delT|||||623|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000454279|protein_coding||c.*565delT|||||2394|WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|7/15|c.761-43delT||||||,|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|6/19|c.647-43delT||||||,|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|6/14|c.647-43delT||||||,|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|6/16|c.647-43delT||||||,|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|6/14|c.647-43delT||||||,|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|6/14|c.647-43delT||||||,|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000451475|protein_coding|4/4|c.407-43delT||||||WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000437711|nonsense_mediated_decay|4/7|n.329-43delT||||||,|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000460538|retained_intron|1/3|n.273-43delT||||||,|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000465578|retained_intron|1/2|n.15-43delT|||||| 22 45929614 . C T . . ANN=T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_2|ENST00000262722|protein_coding|6/15|c.647-27C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_2|ENST00000262722|protein_coding|7/15|c.647-27C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_2|ENST00000327858|protein_coding|6/17|c.647-27C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_2|ENST00000327858|protein_coding|7/17|c.647-27C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_2|ENST00000442170|protein_coding|6/15|c.647-27C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_2|ENST00000442170|protein_coding|7/15|c.647-27C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_2|ENST00000340923|protein_coding|6/15|c.647-27C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_2|ENST00000340923|protein_coding|7/15|c.647-27C>T||||||,T|upstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000484531|retained_intron||n.-1C>T|||||47|,T|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000411478|protein_coding||c.*568C>T|||||2410|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000455233|protein_coding||c.*671C>T|||||639|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000454279|protein_coding||c.*565C>T|||||2410|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|7/15|c.761-27C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|6/19|c.647-27C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|6/14|c.647-27C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|6/16|c.647-27C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|6/14|c.647-27C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|6/14|c.647-27C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000451475|protein_coding|4/4|c.407-27C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000437711|nonsense_mediated_decay|4/7|n.329-27C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000460538|retained_intron|1/3|n.273-27C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000465578|retained_intron|1/2|n.15-27C>T|||||| 22 45929618 . C T . . ANN=T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_2|ENST00000262722|protein_coding|6/15|c.647-23C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_2|ENST00000262722|protein_coding|7/15|c.647-23C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_2|ENST00000327858|protein_coding|6/17|c.647-23C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_2|ENST00000327858|protein_coding|7/17|c.647-23C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_2|ENST00000442170|protein_coding|6/15|c.647-23C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_2|ENST00000442170|protein_coding|7/15|c.647-23C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_2|ENST00000340923|protein_coding|6/15|c.647-23C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_2|ENST00000340923|protein_coding|7/15|c.647-23C>T||||||,T|upstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000484531|retained_intron||n.-1C>T|||||43|,T|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000411478|protein_coding||c.*568C>T|||||2414|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000455233|protein_coding||c.*671C>T|||||643|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000454279|protein_coding||c.*565C>T|||||2414|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|7/15|c.761-23C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|6/19|c.647-23C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|6/14|c.647-23C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|6/16|c.647-23C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|6/14|c.647-23C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|6/14|c.647-23C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000451475|protein_coding|4/4|c.407-23C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000437711|nonsense_mediated_decay|4/7|n.329-23C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000460538|retained_intron|1/3|n.273-23C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000465578|retained_intron|1/2|n.15-23C>T|||||| 22 45929694 . A C . . ANN=C|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|8/16|c.814A>C|p.Ile272Leu|917/2355|814/2166|272/721||,C|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|7/20|c.700A>C|p.Ile234Leu|847/2947|700/2112|234/703||,C|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|7/15|c.700A>C|p.Ile234Leu|803/2251|700/2052|234/683||,C|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|7/17|c.700A>C|p.Ile234Leu|795/2896|700/2112|234/703||,C|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|7/15|c.700A>C|p.Ile234Leu|716/2531|700/1806|234/601||,C|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|7/15|c.700A>C|p.Ile234Leu|710/2348|700/1701|234/566||,C|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000451475|protein_coding|5/5|c.460A>C|p.Ile154Leu|460/544|460/544|154/180||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_2|ENST00000262722|protein_coding|6/15|c.700A>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_2|ENST00000262722|protein_coding|7/15|c.700A>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000262722|protein_coding|7/15|c.700A>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_2|ENST00000327858|protein_coding|6/17|c.700A>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_2|ENST00000327858|protein_coding|7/17|c.700A>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|7/17|c.700A>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_2|ENST00000442170|protein_coding|6/15|c.700A>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_2|ENST00000442170|protein_coding|7/15|c.700A>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000442170|protein_coding|7/15|c.700A>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_2|ENST00000340923|protein_coding|6/15|c.700A>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_2|ENST00000340923|protein_coding|7/15|c.700A>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000340923|protein_coding|7/15|c.700A>C||||||,C|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000411478|protein_coding||c.*568A>C|||||2490|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000455233|protein_coding||c.*671A>C|||||719|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000454279|protein_coding||c.*565A>C|||||2490|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000437711|nonsense_mediated_decay|5/8|n.382A>C||||||,C|non_coding_exon_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000460538|retained_intron|2/4|n.326A>C||||||,C|non_coding_exon_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000465578|retained_intron|2/3|n.68A>C||||||,C|non_coding_exon_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000484531|retained_intron|1/2|n.34A>C|||||| 22 45929816 . C T . . ANN=T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_3|ENST00000262722|protein_coding|7/15|c.784+38C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_3|ENST00000262722|protein_coding|8/15|c.784+38C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_3|ENST00000327858|protein_coding|7/17|c.784+38C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_3|ENST00000327858|protein_coding|8/17|c.784+38C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_3|ENST00000442170|protein_coding|7/15|c.784+38C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_3|ENST00000442170|protein_coding|8/15|c.784+38C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_3|ENST00000340923|protein_coding|7/15|c.784+38C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_3|ENST00000340923|protein_coding|8/15|c.784+38C>T||||||,T|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000411478|protein_coding||c.*568C>T|||||2612|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000455233|protein_coding||c.*671C>T|||||841|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000454279|protein_coding||c.*565C>T|||||2612|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000451475|protein_coding||c.*544C>T|||||38|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|8/15|c.898+38C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|7/19|c.784+38C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|7/14|c.784+38C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|7/16|c.784+38C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|7/14|c.784+38C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|7/14|c.784+38C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000437711|nonsense_mediated_decay|5/7|n.466+38C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000460538|retained_intron|2/3|n.410+38C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000465578|retained_intron|2/2|n.152+38C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000484531|retained_intron|1/1|n.118+38C>T|||||| 22 45929820 . C T . . ANN=T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_3|ENST00000262722|protein_coding|7/15|c.784+42C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_3|ENST00000262722|protein_coding|8/15|c.784+42C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_3|ENST00000327858|protein_coding|7/17|c.784+42C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_3|ENST00000327858|protein_coding|8/17|c.784+42C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_3|ENST00000442170|protein_coding|7/15|c.784+42C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_3|ENST00000442170|protein_coding|8/15|c.784+42C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_3|ENST00000340923|protein_coding|7/15|c.784+42C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_3|ENST00000340923|protein_coding|8/15|c.784+42C>T||||||,T|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000411478|protein_coding||c.*568C>T|||||2616|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000455233|protein_coding||c.*671C>T|||||845|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000454279|protein_coding||c.*565C>T|||||2616|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000451475|protein_coding||c.*544C>T|||||42|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|8/15|c.898+42C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|7/19|c.784+42C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|7/14|c.784+42C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|7/16|c.784+42C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|7/14|c.784+42C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|7/14|c.784+42C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000437711|nonsense_mediated_decay|5/7|n.466+42C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000460538|retained_intron|2/3|n.410+42C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000465578|retained_intron|2/2|n.152+42C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000484531|retained_intron|1/1|n.118+42C>T|||||| 22 45929828 . C T . . ANN=T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_3|ENST00000262722|protein_coding|7/15|c.784+50C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_3|ENST00000262722|protein_coding|8/15|c.784+50C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_3|ENST00000327858|protein_coding|7/17|c.784+50C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_3|ENST00000327858|protein_coding|8/17|c.784+50C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_3|ENST00000442170|protein_coding|7/15|c.784+50C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_3|ENST00000442170|protein_coding|8/15|c.784+50C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_3|ENST00000340923|protein_coding|7/15|c.784+50C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_3|ENST00000340923|protein_coding|8/15|c.784+50C>T||||||,T|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000411478|protein_coding||c.*568C>T|||||2624|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000455233|protein_coding||c.*671C>T|||||853|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000454279|protein_coding||c.*565C>T|||||2624|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000451475|protein_coding||c.*544C>T|||||50|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|8/15|c.898+50C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|7/19|c.784+50C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|7/14|c.784+50C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|7/16|c.784+50C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|7/14|c.784+50C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|7/14|c.784+50C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000437711|nonsense_mediated_decay|5/7|n.466+50C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000460538|retained_intron|2/3|n.410+50C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000465578|retained_intron|2/2|n.152+50C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000484531|retained_intron|1/1|n.118+50C>T|||||| 22 45931223 . A C . . ANN=C|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|9/15|c.1036+6A>C||||||,C|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|8/19|c.922+6A>C||||||,C|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|8/14|c.922+6A>C||||||,C|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|8/16|c.922+6A>C||||||,C|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|8/14|c.922+6A>C||||||,C|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|8/14|c.922+6A>C||||||,C|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000437711|nonsense_mediated_decay|6/7|n.548+6A>C||||||,C|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000460538|retained_intron|3/3|n.492+6A>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000262722|protein_coding|9/15|c.922+6A>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000262722|protein_coding|8/15|c.922+6A>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000327858|protein_coding|9/17|c.922+6A>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000327858|protein_coding|8/17|c.922+6A>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000442170|protein_coding|9/15|c.922+6A>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000442170|protein_coding|8/15|c.922+6A>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000340923|protein_coding|9/15|c.922+6A>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000340923|protein_coding|8/15|c.922+6A>C||||||,C|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000411478|protein_coding||c.*568A>C|||||4019|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000455233|protein_coding||c.*671A>C|||||2248|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000454279|protein_coding||c.*565A>C|||||4019|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000451475|protein_coding||c.*544A>C|||||1445|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000465578|retained_intron|3/3|n.240A>C||||||,C|non_coding_exon_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000484531|retained_intron|2/2|n.262A>C|||||| 22 45931231 . C T . . ANN=T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000262722|protein_coding|9/15|c.922+14C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000262722|protein_coding|8/15|c.922+14C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000327858|protein_coding|9/17|c.922+14C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000327858|protein_coding|8/17|c.922+14C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000442170|protein_coding|9/15|c.922+14C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000442170|protein_coding|8/15|c.922+14C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000340923|protein_coding|9/15|c.922+14C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000340923|protein_coding|8/15|c.922+14C>T||||||,T|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000411478|protein_coding||c.*568C>T|||||4027|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000455233|protein_coding||c.*671C>T|||||2256|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000454279|protein_coding||c.*565C>T|||||4027|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000451475|protein_coding||c.*544C>T|||||1453|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|9/15|c.1036+14C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|8/19|c.922+14C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|8/14|c.922+14C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|8/16|c.922+14C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|8/14|c.922+14C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|8/14|c.922+14C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000437711|nonsense_mediated_decay|6/7|n.548+14C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000460538|retained_intron|3/3|n.492+14C>T||||||,T|non_coding_exon_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000465578|retained_intron|3/3|n.248C>T||||||,T|non_coding_exon_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000484531|retained_intron|2/2|n.270C>T|||||| 22 45931243 . C T . . ANN=T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000262722|protein_coding|9/15|c.922+26C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000262722|protein_coding|8/15|c.922+26C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000327858|protein_coding|9/17|c.922+26C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000327858|protein_coding|8/17|c.922+26C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000442170|protein_coding|9/15|c.922+26C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000442170|protein_coding|8/15|c.922+26C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000340923|protein_coding|9/15|c.922+26C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000340923|protein_coding|8/15|c.922+26C>T||||||,T|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000411478|protein_coding||c.*568C>T|||||4039|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000455233|protein_coding||c.*671C>T|||||2268|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000454279|protein_coding||c.*565C>T|||||4039|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000451475|protein_coding||c.*544C>T|||||1465|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|9/15|c.1036+26C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|8/19|c.922+26C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|8/14|c.922+26C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|8/16|c.922+26C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|8/14|c.922+26C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|8/14|c.922+26C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000437711|nonsense_mediated_decay|6/7|n.548+26C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000460538|retained_intron|3/3|n.492+26C>T||||||,T|non_coding_exon_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000465578|retained_intron|3/3|n.260C>T||||||,T|non_coding_exon_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000484531|retained_intron|2/2|n.282C>T|||||| 22 45931244 . G A . . ANN=A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000262722|protein_coding|9/15|c.922+27G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000262722|protein_coding|8/15|c.922+27G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000327858|protein_coding|9/17|c.922+27G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000327858|protein_coding|8/17|c.922+27G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000442170|protein_coding|9/15|c.922+27G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000442170|protein_coding|8/15|c.922+27G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000340923|protein_coding|9/15|c.922+27G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000340923|protein_coding|8/15|c.922+27G>A||||||,A|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000411478|protein_coding||c.*568G>A|||||4040|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000455233|protein_coding||c.*671G>A|||||2269|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000454279|protein_coding||c.*565G>A|||||4040|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000451475|protein_coding||c.*544G>A|||||1466|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|9/15|c.1036+27G>A||||||,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|8/19|c.922+27G>A||||||,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|8/14|c.922+27G>A||||||,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|8/16|c.922+27G>A||||||,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|8/14|c.922+27G>A||||||,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|8/14|c.922+27G>A||||||,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000437711|nonsense_mediated_decay|6/7|n.548+27G>A||||||,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000460538|retained_intron|3/3|n.492+27G>A||||||,A|non_coding_exon_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000465578|retained_intron|3/3|n.261G>A||||||,A|non_coding_exon_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000484531|retained_intron|2/2|n.283G>A|||||| 22 45931262 . C T . . ANN=T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000262722|protein_coding|9/15|c.922+45C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000262722|protein_coding|8/15|c.922+45C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000327858|protein_coding|9/17|c.922+45C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000327858|protein_coding|8/17|c.922+45C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000442170|protein_coding|9/15|c.922+45C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000442170|protein_coding|8/15|c.922+45C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000340923|protein_coding|9/15|c.922+45C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000340923|protein_coding|8/15|c.922+45C>T||||||,T|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000411478|protein_coding||c.*568C>T|||||4058|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000455233|protein_coding||c.*671C>T|||||2287|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000454279|protein_coding||c.*565C>T|||||4058|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000451475|protein_coding||c.*544C>T|||||1484|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|9/15|c.1036+45C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|8/19|c.922+45C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|8/14|c.922+45C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|8/16|c.922+45C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|8/14|c.922+45C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|8/14|c.922+45C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000437711|nonsense_mediated_decay|6/7|n.548+45C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000460538|retained_intron|3/3|n.492+45C>T||||||,T|non_coding_exon_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000465578|retained_intron|3/3|n.279C>T||||||,T|non_coding_exon_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000484531|retained_intron|2/2|n.301C>T|||||| 22 45937061 . G A . . ANN=A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000262722|protein_coding|9/15|c.923-48G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000262722|protein_coding|8/15|c.923-48G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000327858|protein_coding|9/17|c.923-48G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000327858|protein_coding|8/17|c.923-48G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000442170|protein_coding|9/15|c.923-48G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000442170|protein_coding|8/15|c.923-48G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000340923|protein_coding|9/15|c.923-48G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000340923|protein_coding|8/15|c.923-48G>A||||||,A|upstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000476366|processed_transcript||n.-1G>A|||||48|,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|9/15|c.1037-48G>A||||||,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|8/19|c.923-48G>A||||||,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|8/14|c.923-48G>A||||||,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|8/16|c.923-48G>A||||||,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|8/14|c.923-48G>A||||||,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|8/14|c.923-48G>A||||||,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000437711|nonsense_mediated_decay|6/7|n.549-48G>A||||||,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000460538|retained_intron|3/3|n.493-48G>A|||||| 22 45937102 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|9/15|c.1037-7G>A||||||,A|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|8/19|c.923-7G>A||||||,A|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|8/14|c.923-7G>A||||||,A|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|8/16|c.923-7G>A||||||,A|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|8/14|c.923-7G>A||||||,A|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|8/14|c.923-7G>A||||||,A|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000437711|nonsense_mediated_decay|6/7|n.549-7G>A||||||,A|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000460538|retained_intron|3/3|n.493-7G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000262722|protein_coding|9/15|c.923-7G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000262722|protein_coding|8/15|c.923-7G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000327858|protein_coding|9/17|c.923-7G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000327858|protein_coding|8/17|c.923-7G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000442170|protein_coding|9/15|c.923-7G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000442170|protein_coding|8/15|c.923-7G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000340923|protein_coding|9/15|c.923-7G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000340923|protein_coding|8/15|c.923-7G>A||||||,A|upstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000476366|processed_transcript||n.-1G>A|||||7| 22 45937143 . C T . . ANN=T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|10/16|c.1071C>T|p.Cys357Cys|1174/2355|1071/2166|357/721||,T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|9/20|c.957C>T|p.Cys319Cys|1104/2947|957/2112|319/703||,T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|9/15|c.957C>T|p.Cys319Cys|1060/2251|957/2052|319/683||,T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|9/17|c.957C>T|p.Cys319Cys|1052/2896|957/2112|319/703||,T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|9/15|c.957C>T|p.Cys319Cys|973/2531|957/1806|319/601||,T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|9/15|c.957C>T|p.Cys319Cys|967/2348|957/1701|319/566||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000262722|protein_coding|9/15|c.957C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000262722|protein_coding|8/15|c.957C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000262722|protein_coding|9/15|c.957C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000327858|protein_coding|9/17|c.957C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000327858|protein_coding|8/17|c.957C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|9/17|c.957C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000442170|protein_coding|9/15|c.957C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000442170|protein_coding|8/15|c.957C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000442170|protein_coding|9/15|c.957C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000340923|protein_coding|9/15|c.957C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000340923|protein_coding|8/15|c.957C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000340923|protein_coding|9/15|c.957C>T||||||,T|3_prime_UTR_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000437711|nonsense_mediated_decay|7/8|n.*34C>T|||||34|,T|non_coding_exon_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000437711|nonsense_mediated_decay|7/8|n.*34C>T||||||,T|non_coding_exon_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000460538|retained_intron|4/4|n.527C>T||||||,T|non_coding_exon_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000476366|processed_transcript|1/6|n.35C>T|||||| 22 45937149 . C T . . ANN=T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|10/16|c.1077C>T|p.Ile359Ile|1180/2355|1077/2166|359/721||,T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|9/20|c.963C>T|p.Ile321Ile|1110/2947|963/2112|321/703||,T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|9/15|c.963C>T|p.Ile321Ile|1066/2251|963/2052|321/683||,T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|9/17|c.963C>T|p.Ile321Ile|1058/2896|963/2112|321/703||,T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|9/15|c.963C>T|p.Ile321Ile|979/2531|963/1806|321/601||,T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|9/15|c.963C>T|p.Ile321Ile|973/2348|963/1701|321/566||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000262722|protein_coding|9/15|c.963C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000262722|protein_coding|8/15|c.963C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000262722|protein_coding|9/15|c.963C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000327858|protein_coding|9/17|c.963C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000327858|protein_coding|8/17|c.963C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|9/17|c.963C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000442170|protein_coding|9/15|c.963C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000442170|protein_coding|8/15|c.963C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000442170|protein_coding|9/15|c.963C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000340923|protein_coding|9/15|c.963C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_4|ENST00000340923|protein_coding|8/15|c.963C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000340923|protein_coding|9/15|c.963C>T||||||,T|3_prime_UTR_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000437711|nonsense_mediated_decay|7/8|n.*40C>T|||||40|,T|non_coding_exon_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000437711|nonsense_mediated_decay|7/8|n.*40C>T||||||,T|non_coding_exon_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000460538|retained_intron|4/4|n.533C>T||||||,T|non_coding_exon_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000476366|processed_transcript|1/6|n.41C>T|||||| 22 45938087 . C T . . ANN=T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|11/16|c.1233C>T|p.Cys411Cys|1336/2355|1233/2166|411/721||,T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|10/20|c.1119C>T|p.Cys373Cys|1266/2947|1119/2112|373/703||,T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|10/15|c.1119C>T|p.Cys373Cys|1222/2251|1119/2052|373/683||,T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|10/17|c.1119C>T|p.Cys373Cys|1214/2896|1119/2112|373/703||,T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|10/15|c.1119C>T|p.Cys373Cys|1135/2531|1119/1806|373/601||,T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|10/15|c.1119C>T|p.Cys373Cys|1129/2348|1119/1701|373/566||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_5|ENST00000262722|protein_coding|9/15|c.1119C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_5|ENST00000262722|protein_coding|10/15|c.1119C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000262722|protein_coding|9/15|c.1119C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000262722|protein_coding|11/15|c.1119C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000262722|protein_coding|10/15|c.1119C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000262722|protein_coding|10/15|c.1119C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_5|ENST00000327858|protein_coding|9/17|c.1119C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_5|ENST00000327858|protein_coding|10/17|c.1119C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000327858|protein_coding|9/17|c.1119C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000327858|protein_coding|11/17|c.1119C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000327858|protein_coding|10/17|c.1119C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|10/17|c.1119C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_5|ENST00000442170|protein_coding|9/15|c.1119C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_5|ENST00000442170|protein_coding|10/15|c.1119C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000442170|protein_coding|9/15|c.1119C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000442170|protein_coding|11/15|c.1119C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000442170|protein_coding|10/15|c.1119C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000442170|protein_coding|10/15|c.1119C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_5|ENST00000340923|protein_coding|9/15|c.1119C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_5|ENST00000340923|protein_coding|10/15|c.1119C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000340923|protein_coding|9/15|c.1119C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000340923|protein_coding|11/15|c.1119C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000340923|protein_coding|10/15|c.1119C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000340923|protein_coding|10/15|c.1119C>T||||||,T|3_prime_UTR_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000437711|nonsense_mediated_decay|8/8|n.*196C>T|||||978|,T|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000460538|retained_intron||n.*543C>T|||||928|,T|non_coding_exon_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000437711|nonsense_mediated_decay|8/8|n.*196C>T||||||,T|non_coding_exon_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000476366|processed_transcript|2/6|n.197C>T|||||| 22 45938088 . G A . . ANN=A|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|11/16|c.1234G>A|p.Val412Met|1337/2355|1234/2166|412/721||,A|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|10/20|c.1120G>A|p.Val374Met|1267/2947|1120/2112|374/703||,A|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|10/15|c.1120G>A|p.Val374Met|1223/2251|1120/2052|374/683||,A|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|10/17|c.1120G>A|p.Val374Met|1215/2896|1120/2112|374/703||,A|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|10/15|c.1120G>A|p.Val374Met|1136/2531|1120/1806|374/601||,A|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|10/15|c.1120G>A|p.Val374Met|1130/2348|1120/1701|374/566||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_5|ENST00000262722|protein_coding|9/15|c.1120G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_5|ENST00000262722|protein_coding|10/15|c.1120G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000262722|protein_coding|9/15|c.1120G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000262722|protein_coding|11/15|c.1120G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000262722|protein_coding|10/15|c.1120G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000262722|protein_coding|10/15|c.1120G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_5|ENST00000327858|protein_coding|9/17|c.1120G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_5|ENST00000327858|protein_coding|10/17|c.1120G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000327858|protein_coding|9/17|c.1120G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000327858|protein_coding|11/17|c.1120G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000327858|protein_coding|10/17|c.1120G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|10/17|c.1120G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_5|ENST00000442170|protein_coding|9/15|c.1120G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_5|ENST00000442170|protein_coding|10/15|c.1120G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000442170|protein_coding|9/15|c.1120G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000442170|protein_coding|11/15|c.1120G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000442170|protein_coding|10/15|c.1120G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000442170|protein_coding|10/15|c.1120G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_5|ENST00000340923|protein_coding|9/15|c.1120G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_5|ENST00000340923|protein_coding|10/15|c.1120G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000340923|protein_coding|9/15|c.1120G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000340923|protein_coding|11/15|c.1120G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000340923|protein_coding|10/15|c.1120G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000340923|protein_coding|10/15|c.1120G>A||||||,A|3_prime_UTR_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000437711|nonsense_mediated_decay|8/8|n.*197G>A|||||979|,A|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000460538|retained_intron||n.*543G>A|||||929|,A|non_coding_exon_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000437711|nonsense_mediated_decay|8/8|n.*197G>A||||||,A|non_coding_exon_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000476366|processed_transcript|2/6|n.198G>A|||||| 22 45938204 . C T . . ANN=T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000262722|protein_coding|9/15|c.1195+41C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000262722|protein_coding|11/15|c.1195+41C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000262722|protein_coding|10/15|c.1195+41C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_6|ENST00000262722|protein_coding|11/15|c.1195+41C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_6|ENST00000262722|protein_coding|10/15|c.1195+41C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000327858|protein_coding|9/17|c.1195+41C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000327858|protein_coding|11/17|c.1195+41C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000327858|protein_coding|10/17|c.1195+41C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_6|ENST00000327858|protein_coding|11/17|c.1195+41C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_6|ENST00000327858|protein_coding|10/17|c.1195+41C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000442170|protein_coding|9/15|c.1195+41C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000442170|protein_coding|11/15|c.1195+41C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000442170|protein_coding|10/15|c.1195+41C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_6|ENST00000442170|protein_coding|11/15|c.1195+41C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_6|ENST00000442170|protein_coding|10/15|c.1195+41C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000340923|protein_coding|9/15|c.1195+41C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000340923|protein_coding|11/15|c.1195+41C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000340923|protein_coding|10/15|c.1195+41C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_6|ENST00000340923|protein_coding|11/15|c.1195+41C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_6|ENST00000340923|protein_coding|10/15|c.1195+41C>T||||||,T|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000437711|nonsense_mediated_decay||n.*550C>T|||||110|,T|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000460538|retained_intron||n.*543C>T|||||1045|,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|11/15|c.1309+41C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|10/19|c.1195+41C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|10/14|c.1195+41C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|10/16|c.1195+41C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|10/14|c.1195+41C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|10/14|c.1195+41C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000476366|processed_transcript|2/5|n.273+41C>T|||||| 22 45939294 . C T . . ANN=T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|12/16|c.1323C>T|p.Cys441Cys|1426/2355|1323/2166|441/721||,T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|11/20|c.1209C>T|p.Cys403Cys|1356/2947|1209/2112|403/703||,T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|11/15|c.1209C>T|p.Cys403Cys|1312/2251|1209/2052|403/683||,T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|11/17|c.1209C>T|p.Cys403Cys|1304/2896|1209/2112|403/703||,T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|11/15|c.1209C>T|p.Cys403Cys|1225/2531|1209/1806|403/601||,T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|11/15|c.1209C>T|p.Cys403Cys|1219/2348|1209/1701|403/566||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000262722|protein_coding|9/15|c.1209C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000262722|protein_coding|11/15|c.1209C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000262722|protein_coding|10/15|c.1209C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_6|ENST00000262722|protein_coding|11/15|c.1209C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_6|ENST00000262722|protein_coding|10/15|c.1209C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000262722|protein_coding|11/15|c.1209C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000327858|protein_coding|9/17|c.1209C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000327858|protein_coding|11/17|c.1209C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000327858|protein_coding|10/17|c.1209C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_6|ENST00000327858|protein_coding|11/17|c.1209C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_6|ENST00000327858|protein_coding|10/17|c.1209C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|11/17|c.1209C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000442170|protein_coding|9/15|c.1209C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000442170|protein_coding|11/15|c.1209C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000442170|protein_coding|10/15|c.1209C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_6|ENST00000442170|protein_coding|11/15|c.1209C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_6|ENST00000442170|protein_coding|10/15|c.1209C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000442170|protein_coding|11/15|c.1209C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000340923|protein_coding|9/15|c.1209C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000340923|protein_coding|11/15|c.1209C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000340923|protein_coding|10/15|c.1209C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_6|ENST00000340923|protein_coding|11/15|c.1209C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_6|ENST00000340923|protein_coding|10/15|c.1209C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000340923|protein_coding|11/15|c.1209C>T||||||,T|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000437711|nonsense_mediated_decay||n.*550C>T|||||1200|,T|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000460538|retained_intron||n.*543C>T|||||2135|,T|non_coding_exon_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000476366|processed_transcript|3/6|n.287C>T|||||| 22 45939320 . G T . . ANN=T|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|12/16|c.1349G>T|p.Gly450Val|1452/2355|1349/2166|450/721||,T|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|11/20|c.1235G>T|p.Gly412Val|1382/2947|1235/2112|412/703||,T|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|11/15|c.1235G>T|p.Gly412Val|1338/2251|1235/2052|412/683||,T|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|11/17|c.1235G>T|p.Gly412Val|1330/2896|1235/2112|412/703||,T|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|11/15|c.1235G>T|p.Gly412Val|1251/2531|1235/1806|412/601||,T|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|11/15|c.1235G>T|p.Gly412Val|1245/2348|1235/1701|412/566||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000262722|protein_coding|9/15|c.1235G>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000262722|protein_coding|11/15|c.1235G>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000262722|protein_coding|10/15|c.1235G>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_6|ENST00000262722|protein_coding|11/15|c.1235G>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_6|ENST00000262722|protein_coding|10/15|c.1235G>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000262722|protein_coding|11/15|c.1235G>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000327858|protein_coding|9/17|c.1235G>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000327858|protein_coding|11/17|c.1235G>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000327858|protein_coding|10/17|c.1235G>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_6|ENST00000327858|protein_coding|11/17|c.1235G>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_6|ENST00000327858|protein_coding|10/17|c.1235G>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|11/17|c.1235G>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000442170|protein_coding|9/15|c.1235G>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000442170|protein_coding|11/15|c.1235G>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000442170|protein_coding|10/15|c.1235G>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_6|ENST00000442170|protein_coding|11/15|c.1235G>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_6|ENST00000442170|protein_coding|10/15|c.1235G>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000442170|protein_coding|11/15|c.1235G>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000340923|protein_coding|9/15|c.1235G>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000340923|protein_coding|11/15|c.1235G>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000340923|protein_coding|10/15|c.1235G>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_6|ENST00000340923|protein_coding|11/15|c.1235G>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_6|ENST00000340923|protein_coding|10/15|c.1235G>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000340923|protein_coding|11/15|c.1235G>T||||||,T|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000437711|nonsense_mediated_decay||n.*550G>T|||||1226|,T|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000460538|retained_intron||n.*543G>T|||||2161|,T|non_coding_exon_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000476366|processed_transcript|3/6|n.313G>T|||||| 22 45942925 . G A . . ANN=A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_7|ENST00000262722|protein_coding|12/15|c.1322-40G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_7|ENST00000262722|protein_coding|11/15|c.1322-40G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_7|ENST00000327858|protein_coding|12/17|c.1322-40G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_7|ENST00000327858|protein_coding|11/17|c.1322-40G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_7|ENST00000442170|protein_coding|12/15|c.1322-40G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_7|ENST00000442170|protein_coding|11/15|c.1322-40G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_7|ENST00000340923|protein_coding|12/15|c.1322-40G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_7|ENST00000340923|protein_coding|11/15|c.1322-40G>A||||||,A|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000437711|nonsense_mediated_decay||n.*550G>A|||||4831|,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|12/15|c.1436-40G>A||||||,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|11/19|c.1322-40G>A||||||,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|11/14|c.1322-40G>A||||||,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|11/16|c.1322-40G>A||||||,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|11/14|c.1322-40G>A||||||,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|11/14|c.1322-40G>A||||||,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000476366|processed_transcript|3/5|n.400-40G>A|||||| 22 45942951 . G A . . ANN=A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_7|ENST00000262722|protein_coding|12/15|c.1322-14G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_7|ENST00000262722|protein_coding|11/15|c.1322-14G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_7|ENST00000327858|protein_coding|12/17|c.1322-14G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_7|ENST00000327858|protein_coding|11/17|c.1322-14G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_7|ENST00000442170|protein_coding|12/15|c.1322-14G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_7|ENST00000442170|protein_coding|11/15|c.1322-14G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_7|ENST00000340923|protein_coding|12/15|c.1322-14G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_7|ENST00000340923|protein_coding|11/15|c.1322-14G>A||||||,A|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000437711|nonsense_mediated_decay||n.*550G>A|||||4857|,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|12/15|c.1436-14G>A||||||,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|11/19|c.1322-14G>A||||||,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|11/14|c.1322-14G>A||||||,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|11/16|c.1322-14G>A||||||,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|11/14|c.1322-14G>A||||||,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|11/14|c.1322-14G>A||||||,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000476366|processed_transcript|3/5|n.400-14G>A|||||| 22 45943011 . C T . . ANN=T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|13/16|c.1482C>T|p.Asn494Asn|1585/2355|1482/2166|494/721||,T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|12/20|c.1368C>T|p.Asn456Asn|1515/2947|1368/2112|456/703||,T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|12/15|c.1368C>T|p.Asn456Asn|1471/2251|1368/2052|456/683||,T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|12/17|c.1368C>T|p.Asn456Asn|1463/2896|1368/2112|456/703||,T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|12/15|c.1368C>T|p.Asn456Asn|1384/2531|1368/1806|456/601||,T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|12/15|c.1368C>T|p.Asn456Asn|1378/2348|1368/1701|456/566||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_7|ENST00000262722|protein_coding|12/15|c.1368C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_7|ENST00000262722|protein_coding|11/15|c.1368C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000262722|protein_coding|12/15|c.1368C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_7|ENST00000327858|protein_coding|12/17|c.1368C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_7|ENST00000327858|protein_coding|11/17|c.1368C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|12/17|c.1368C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_7|ENST00000442170|protein_coding|12/15|c.1368C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_7|ENST00000442170|protein_coding|11/15|c.1368C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000442170|protein_coding|12/15|c.1368C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_7|ENST00000340923|protein_coding|12/15|c.1368C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_7|ENST00000340923|protein_coding|11/15|c.1368C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000340923|protein_coding|12/15|c.1368C>T||||||,T|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000437711|nonsense_mediated_decay||n.*550C>T|||||4917|,T|non_coding_exon_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000476366|processed_transcript|4/6|n.446C>T|||||| 22 45943089 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|13/15|c.1555+5G>A||||||,A|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|12/19|c.1441+5G>A||||||,A|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|12/14|c.1441+5G>A||||||,A|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|12/16|c.1441+5G>A||||||,A|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|12/14|c.1441+5G>A||||||,A|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|12/14|c.1441+5G>A||||||,A|splice_region_variant&intron_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000476366|processed_transcript|4/5|n.519+5G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000262722|protein_coding|12/15|c.1441+5G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000262722|protein_coding|13/15|c.1441+5G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000327858|protein_coding|12/17|c.1441+5G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000327858|protein_coding|13/17|c.1441+5G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000442170|protein_coding|12/15|c.1441+5G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000442170|protein_coding|13/15|c.1441+5G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000340923|protein_coding|12/15|c.1441+5G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000340923|protein_coding|13/15|c.1441+5G>A||||||,A|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000437711|nonsense_mediated_decay||n.*550G>A|||||4995| 22 45943093 . G A . . ANN=A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000262722|protein_coding|12/15|c.1441+9G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000262722|protein_coding|13/15|c.1441+9G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000327858|protein_coding|12/17|c.1441+9G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000327858|protein_coding|13/17|c.1441+9G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000442170|protein_coding|12/15|c.1441+9G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000442170|protein_coding|13/15|c.1441+9G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000340923|protein_coding|12/15|c.1441+9G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000340923|protein_coding|13/15|c.1441+9G>A||||||,A|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000437711|nonsense_mediated_decay||n.*550G>A|||||4999|,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|13/15|c.1555+9G>A||||||,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|12/19|c.1441+9G>A||||||,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|12/14|c.1441+9G>A||||||,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|12/16|c.1441+9G>A||||||,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|12/14|c.1441+9G>A||||||,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|12/14|c.1441+9G>A||||||,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000476366|processed_transcript|4/5|n.519+9G>A|||||| 22 45943107 . A C . . ANN=C|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000262722|protein_coding|12/15|c.1441+23A>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000262722|protein_coding|13/15|c.1441+23A>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000327858|protein_coding|12/17|c.1441+23A>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000327858|protein_coding|13/17|c.1441+23A>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000442170|protein_coding|12/15|c.1441+23A>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000442170|protein_coding|13/15|c.1441+23A>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000340923|protein_coding|12/15|c.1441+23A>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000340923|protein_coding|13/15|c.1441+23A>C||||||,C|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|13/15|c.1555+23A>C||||||,C|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|12/19|c.1441+23A>C||||||,C|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|12/14|c.1441+23A>C||||||,C|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|12/16|c.1441+23A>C||||||,C|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|12/14|c.1441+23A>C||||||,C|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|12/14|c.1441+23A>C||||||,C|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000476366|processed_transcript|4/5|n.519+23A>C|||||| 22 45943115 . A G . . ANN=G|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000262722|protein_coding|12/15|c.1441+31A>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000262722|protein_coding|13/15|c.1441+31A>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000327858|protein_coding|12/17|c.1441+31A>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000327858|protein_coding|13/17|c.1441+31A>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000442170|protein_coding|12/15|c.1441+31A>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000442170|protein_coding|13/15|c.1441+31A>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000340923|protein_coding|12/15|c.1441+31A>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000340923|protein_coding|13/15|c.1441+31A>G||||||,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|13/15|c.1555+31A>G||||||,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|12/19|c.1441+31A>G||||||,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|12/14|c.1441+31A>G||||||,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|12/16|c.1441+31A>G||||||,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|12/14|c.1441+31A>G||||||,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|12/14|c.1441+31A>G||||||,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000476366|processed_transcript|4/5|n.519+31A>G|||||| 22 45943134 . A G . . ANN=G|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000262722|protein_coding|12/15|c.1441+50A>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000262722|protein_coding|13/15|c.1441+50A>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000327858|protein_coding|12/17|c.1441+50A>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000327858|protein_coding|13/17|c.1441+50A>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000442170|protein_coding|12/15|c.1441+50A>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000442170|protein_coding|13/15|c.1441+50A>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000340923|protein_coding|12/15|c.1441+50A>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000340923|protein_coding|13/15|c.1441+50A>G||||||,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|13/15|c.1555+50A>G||||||,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|12/19|c.1441+50A>G||||||,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|12/14|c.1441+50A>G||||||,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|12/16|c.1441+50A>G||||||,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|12/14|c.1441+50A>G||||||,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|12/14|c.1441+50A>G||||||,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000476366|processed_transcript|4/5|n.519+50A>G|||||| 22 45944495 . A T . . ANN=T|missense_variant&splice_region_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|14/16|c.1558A>T|p.Ile520Phe|1661/2355|1558/2166|520/721||,T|missense_variant&splice_region_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|13/20|c.1444A>T|p.Ile482Phe|1591/2947|1444/2112|482/703||,T|missense_variant&splice_region_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|13/15|c.1444A>T|p.Ile482Phe|1547/2251|1444/2052|482/683||,T|missense_variant&splice_region_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|13/17|c.1444A>T|p.Ile482Phe|1539/2896|1444/2112|482/703||,T|missense_variant&splice_region_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|13/15|c.1444A>T|p.Ile482Phe|1460/2531|1444/1806|482/601||,T|missense_variant&splice_region_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|13/15|c.1444A>T|p.Ile482Phe|1454/2348|1444/1701|482/566||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000262722|protein_coding|12/15|c.1444A>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000262722|protein_coding|13/15|c.1444A>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000327858|protein_coding|12/17|c.1444A>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000327858|protein_coding|13/17|c.1444A>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000442170|protein_coding|12/15|c.1444A>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000442170|protein_coding|13/15|c.1444A>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000340923|protein_coding|12/15|c.1444A>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000340923|protein_coding|13/15|c.1444A>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000476366|processed_transcript|4/5|n.519+1411A>T|||||| 22 45944507 . G A . . ANN=A|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|14/16|c.1570G>A|p.Ala524Thr|1673/2355|1570/2166|524/721||,A|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|13/20|c.1456G>A|p.Ala486Thr|1603/2947|1456/2112|486/703||,A|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|13/15|c.1456G>A|p.Ala486Thr|1559/2251|1456/2052|486/683||,A|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|13/17|c.1456G>A|p.Ala486Thr|1551/2896|1456/2112|486/703||,A|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|13/15|c.1456G>A|p.Ala486Thr|1472/2531|1456/1806|486/601||,A|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|13/15|c.1456G>A|p.Ala486Thr|1466/2348|1456/1701|486/566||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000262722|protein_coding|12/15|c.1456G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000262722|protein_coding|13/15|c.1456G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000262722|protein_coding|13/15|c.1456G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000327858|protein_coding|12/17|c.1456G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000327858|protein_coding|13/17|c.1456G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|13/17|c.1456G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000442170|protein_coding|12/15|c.1456G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000442170|protein_coding|13/15|c.1456G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000442170|protein_coding|13/15|c.1456G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000340923|protein_coding|12/15|c.1456G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000340923|protein_coding|13/15|c.1456G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000340923|protein_coding|13/15|c.1456G>A||||||,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000476366|processed_transcript|4/5|n.519+1423G>A|||||| 22 45944518 . C T . . ANN=T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|14/16|c.1581C>T|p.Thr527Thr|1684/2355|1581/2166|527/721||,T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|13/20|c.1467C>T|p.Thr489Thr|1614/2947|1467/2112|489/703||,T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|13/15|c.1467C>T|p.Thr489Thr|1570/2251|1467/2052|489/683||,T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|13/17|c.1467C>T|p.Thr489Thr|1562/2896|1467/2112|489/703||,T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|13/15|c.1467C>T|p.Thr489Thr|1483/2531|1467/1806|489/601||,T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|13/15|c.1467C>T|p.Thr489Thr|1477/2348|1467/1701|489/566||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000262722|protein_coding|12/15|c.1467C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000262722|protein_coding|13/15|c.1467C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000262722|protein_coding|13/15|c.1467C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000327858|protein_coding|12/17|c.1467C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000327858|protein_coding|13/17|c.1467C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|13/17|c.1467C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000442170|protein_coding|12/15|c.1467C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000442170|protein_coding|13/15|c.1467C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000442170|protein_coding|13/15|c.1467C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000340923|protein_coding|12/15|c.1467C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000340923|protein_coding|13/15|c.1467C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000340923|protein_coding|13/15|c.1467C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000476366|processed_transcript|4/5|n.519+1434C>T|||||| 22 45944593 . C T . . ANN=T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|14/16|c.1656C>T|p.Tyr552Tyr|1759/2355|1656/2166|552/721||,T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|13/20|c.1542C>T|p.Tyr514Tyr|1689/2947|1542/2112|514/703||,T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|13/15|c.1542C>T|p.Tyr514Tyr|1645/2251|1542/2052|514/683||,T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|13/17|c.1542C>T|p.Tyr514Tyr|1637/2896|1542/2112|514/703||,T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|13/15|c.1542C>T|p.Tyr514Tyr|1558/2531|1542/1806|514/601||,T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|13/15|c.1542C>T|p.Tyr514Tyr|1552/2348|1542/1701|514/566||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000262722|protein_coding|12/15|c.1542C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000262722|protein_coding|13/15|c.1542C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000262722|protein_coding|13/15|c.1542C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000327858|protein_coding|12/17|c.1542C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000327858|protein_coding|13/17|c.1542C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|13/17|c.1542C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000442170|protein_coding|12/15|c.1542C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000442170|protein_coding|13/15|c.1542C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000442170|protein_coding|13/15|c.1542C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000340923|protein_coding|12/15|c.1542C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000340923|protein_coding|13/15|c.1542C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000340923|protein_coding|13/15|c.1542C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000476366|processed_transcript|4/5|n.519+1509C>T|||||| 22 45944657 . G A . . ANN=A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|14/17|c.1573+33G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|15/17|c.1573+33G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|13/17|c.1573+33G>A||||||,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|14/15|c.1687+33G>A||||||,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|13/19|c.1573+33G>A||||||,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|13/14|c.1573+33G>A||||||,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|13/16|c.1573+33G>A||||||,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|13/14|c.1573+33G>A||||||,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|13/14|c.1573+33G>A||||||,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000476366|processed_transcript|4/5|n.519+1573G>A|||||| 22 45946460 . C T . . ANN=T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|15/16|c.1776C>T|p.Phe592Phe|1879/2355|1776/2166|592/721||,T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|14/20|c.1662C>T|p.Phe554Phe|1809/2947|1662/2112|554/703||,T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|14/15|c.1662C>T|p.Phe554Phe|1765/2251|1662/2052|554/683||,T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|14/17|c.1662C>T|p.Phe554Phe|1757/2896|1662/2112|554/703||,T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|14/15|c.1662C>T|p.Phe554Phe|1678/2531|1662/1806|554/601||,T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|14/15|c.1662C>T|p.Phe554Phe|1672/2348|1662/1701|554/566||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|14/17|c.1662C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|15/17|c.1662C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|13/17|c.1662C>T||||||,T|non_coding_exon_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000476366|processed_transcript|5/6|n.608C>T|||||| 22 45946488 . G A . . ANN=A|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|15/16|c.1804G>A|p.Ala602Thr|1907/2355|1804/2166|602/721||,A|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|14/20|c.1690G>A|p.Ala564Thr|1837/2947|1690/2112|564/703||,A|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|14/15|c.1690G>A|p.Ala564Thr|1793/2251|1690/2052|564/683||,A|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|14/17|c.1690G>A|p.Ala564Thr|1785/2896|1690/2112|564/703||,A|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|14/15|c.1690G>A|p.Ala564Thr|1706/2531|1690/1806|564/601||,A|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|14/15|c.1690G>A|p.Ala564Thr|1700/2348|1690/1701|564/566||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|14/17|c.1690G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|15/17|c.1690G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|13/17|c.1690G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|14/17|c.1690G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|15/17|c.1690G>A||||||,A|non_coding_exon_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000476366|processed_transcript|5/6|n.636G>A|||||| 22 45946495 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|15/16|c.1811C>T|p.Thr604Ile|1914/2355|1811/2166|604/721||,T|missense_variant&splice_region_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|14/20|c.1697C>T|p.Thr566Met|1844/2947|1697/2112|566/703||,T|missense_variant&splice_region_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|14/15|c.1697C>T|p.Thr566Ile|1800/2251|1697/2052|566/683||,T|missense_variant&splice_region_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|14/17|c.1697C>T|p.Thr566Met|1792/2896|1697/2112|566/703||,T|missense_variant&splice_region_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|14/15|c.1697C>T|p.Thr566Met|1713/2531|1697/1806|566/601||,T|missense_variant&splice_region_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|14/15|c.1697C>T|p.Thr566Ile|1707/2348|1697/1701|566/566||,T|splice_region_variant&non_coding_exon_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000476366|processed_transcript|5/6|n.643C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|14/17|c.1697C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|15/17|c.1697C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|13/17|c.1697C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|14/17|c.1697C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|15/17|c.1697C>T|||||| 22 45958823 . C T . . ANN=T|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|16/16|c.1843C>T|p.Arg615Trp|1946/2355|1843/2166|615/721||,T|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|15/15|c.1729C>T|p.Arg577Trp|1832/2251|1729/2052|577/683||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|14/17|c.1698-11568C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|15/17|c.1698-11568C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|13/17|c.1698-11568C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|14/17|c.1698-11568C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|15/17|c.1698-11568C>T||||||,T|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding||c.*1711C>T|||||4232|,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|14/19|c.1698-1941C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|14/16|c.1698-11568C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|14/14|c.1698-1941C>T|||||| 22 45958897 . G A . . ANN=A|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|16/16|c.1917G>A|p.Ala639Ala|2020/2355|1917/2166|639/721||,A|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|15/15|c.1803G>A|p.Ala601Ala|1906/2251|1803/2052|601/683||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|14/17|c.1698-11494G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|15/17|c.1698-11494G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|13/17|c.1698-11494G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|14/17|c.1698-11494G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|15/17|c.1698-11494G>A||||||,A|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding||c.*1711G>A|||||4306|,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|14/19|c.1698-1867G>A||||||,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|14/16|c.1698-11494G>A||||||,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|14/14|c.1698-1867G>A|||||| 22 45958933 . C T . . ANN=T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|16/16|c.1953C>T|p.Pro651Pro|2056/2355|1953/2166|651/721||,T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|15/15|c.1839C>T|p.Pro613Pro|1942/2251|1839/2052|613/683||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|14/17|c.1698-11458C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|15/17|c.1698-11458C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|13/17|c.1698-11458C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|14/17|c.1698-11458C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|15/17|c.1698-11458C>T||||||,T|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding||c.*1711C>T|||||4342|,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|14/19|c.1698-1831C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|14/16|c.1698-11458C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|14/14|c.1698-1831C>T|||||| 22 45958934 . G A . . ANN=A|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|16/16|c.1954G>A|p.Gly652Arg|2057/2355|1954/2166|652/721||,A|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|15/15|c.1840G>A|p.Gly614Arg|1943/2251|1840/2052|614/683||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|14/17|c.1698-11457G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|15/17|c.1698-11457G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|13/17|c.1698-11457G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|14/17|c.1698-11457G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|15/17|c.1698-11457G>A||||||,A|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding||c.*1711G>A|||||4343|,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|14/19|c.1698-1830G>A||||||,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|14/16|c.1698-11457G>A||||||,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|14/14|c.1698-1830G>A|||||| 22 45959089 . C T . . ANN=T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|16/16|c.2109C>T|p.His703His|2212/2355|2109/2166|703/721||,T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|15/15|c.1995C>T|p.His665His|2098/2251|1995/2052|665/683||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|14/17|c.1698-11302C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|15/17|c.1698-11302C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|13/17|c.1698-11302C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|14/17|c.1698-11302C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|15/17|c.1698-11302C>T||||||,T|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding||c.*1711C>T|||||4498|,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|14/19|c.1698-1675C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|14/16|c.1698-11302C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|14/14|c.1698-1675C>T|||||| 22 45959157 . C T . . ANN=T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|14/17|c.1698-11234C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|15/17|c.1698-11234C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|13/17|c.1698-11234C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|14/17|c.1698-11234C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|15/17|c.1698-11234C>T||||||,T|3_prime_UTR_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|16/16|c.*11C>T|||||11|,T|3_prime_UTR_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|15/15|c.*11C>T|||||11|,T|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding||c.*1711C>T|||||4566|,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|14/19|c.1698-1607C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|14/16|c.1698-11234C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|14/14|c.1698-1607C>T|||||| 22 45960778 . AG A . . ANN=|frameshift_variant|HIGH|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|15/20|c.1715delG|p.Gly572fs|1862/2947|1715/2112|572/703||INFO_REALIGN_3_PRIME,|frameshift_variant|HIGH|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|15/15|c.1715delG|p.Gly572fs|1731/2531|1715/1806|572/601||INFO_REALIGN_3_PRIME,|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|14/17|c.1698-9612delG||||||,|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|15/17|c.1698-9612delG||||||,|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|13/17|c.1698-9612delG||||||,|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|14/17|c.1698-9612delG||||||,|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|15/17|c.1698-9612delG||||||,|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding||c.*2269delG|||||1547|,|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding||c.*2155delG|||||1537|,|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|14/16|c.1698-9610delG||||||INFO_REALIGN_3_PRIME;LOF=(FBLN1|ENSG00000077942|19|0.05) 22 45960864 . G T . . ANN=T|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|15/20|c.1798G>T|p.Asp600Tyr|1945/2947|1798/2112|600/703||,T|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|15/15|c.1798G>T|p.Asp600Tyr|1814/2531|1798/1806|600/601||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|14/17|c.1698-9527G>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|15/17|c.1698-9527G>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|13/17|c.1698-9527G>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|14/17|c.1698-9527G>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|15/17|c.1698-9527G>T||||||,T|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding||c.*2269G>T|||||1632|,T|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding||c.*2155G>T|||||1622|,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|14/16|c.1698-9527G>T|||||| 22 45970360 . C T . . ANN=T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|14/17|c.1698-31C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|15/17|c.1698-31C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|13/17|c.1698-31C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|14/17|c.1698-31C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|15/17|c.1698-31C>T||||||,T|upstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000460300|processed_transcript||n.-1C>T|||||2559|,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|17/19|c.1825-158C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|14/16|c.1698-31C>T|||||| 22 45970369 . C T . . ANN=T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|14/17|c.1698-22C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|15/17|c.1698-22C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|13/17|c.1698-22C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|14/17|c.1698-22C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|15/17|c.1698-22C>T||||||,T|upstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000460300|processed_transcript||n.-1C>T|||||2550|,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|17/19|c.1825-149C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|14/16|c.1698-22C>T|||||| 22 45970414 . C T . . ANN=T|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|15/17|c.1721C>T|p.Thr574Met|1816/2896|1721/2112|574/703||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|14/17|c.1721C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|15/17|c.1721C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|13/17|c.1721C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|14/17|c.1721C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|15/17|c.1721C>T||||||,T|upstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000460300|processed_transcript||n.-1C>T|||||2505|,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|17/19|c.1825-104C>T|||||| 22 45970559 . C T . . ANN=T|upstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000460300|processed_transcript||n.-1C>T|||||2360|,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|18/19|c.1840+26C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|15/16|c.1840+26C>T|||||| 22 45970572 . G T . . ANN=T|upstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000460300|processed_transcript||n.-1G>T|||||2347|,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|18/19|c.1840+39G>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|15/16|c.1840+39G>T|||||| 22 45970582 . G A . . ANN=A|upstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000460300|processed_transcript||n.-1G>A|||||2337|,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|18/19|c.1840+49G>A||||||,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|15/16|c.1840+49G>A|||||| 22 45972871 . C T . . ANN=T|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|19/20|c.1855C>T|p.Arg619Trp|2002/2947|1855/2112|619/703||,T|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|16/17|c.1855C>T|p.Arg619Trp|1950/2896|1855/2112|619/703||,T|upstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000460300|processed_transcript||n.-1C>T|||||48| 22 45972888 . G A . . ANN=A|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|19/20|c.1872G>A|p.Pro624Pro|2019/2947|1872/2112|624/703||,A|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|16/17|c.1872G>A|p.Pro624Pro|1967/2896|1872/2112|624/703||,A|upstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000460300|processed_transcript||n.-1G>A|||||31| 22 45972941 . G T . . ANN=T|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|19/20|c.1925G>T|p.Arg642Leu|2072/2947|1925/2112|642/703||,T|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|16/17|c.1925G>T|p.Arg642Leu|2020/2896|1925/2112|642/703||,T|non_coding_exon_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000460300|processed_transcript|1/2|n.23G>T|||||| 22 45972983 . C A . . ANN=A|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|19/20|c.1967C>A|p.Thr656Asn|2114/2947|1967/2112|656/703||,A|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|16/17|c.1967C>A|p.Thr656Asn|2062/2896|1967/2112|656/703||,A|non_coding_exon_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000460300|processed_transcript|1/2|n.65C>A|||||| 22 45996239 . G A . . ANN=A|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|20/20|c.2025G>A|p.Lys675Lys|2172/2947|2025/2112|675/703||,A|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|17/17|c.2025G>A|p.Lys675Lys|2120/2896|2025/2112|675/703||,A|downstream_gene_variant|MODIFIER|CTA-941F9.9|ENSG00000238120|transcript|ENST00000422971|antisense||n.*548C>T|||||4073| 22 45996254 . T C . . ANN=C|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|20/20|c.2040T>C|p.Tyr680Tyr|2187/2947|2040/2112|680/703||,C|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|17/17|c.2040T>C|p.Tyr680Tyr|2135/2896|2040/2112|680/703||,C|downstream_gene_variant|MODIFIER|CTA-941F9.9|ENSG00000238120|transcript|ENST00000422971|antisense||n.*548A>G|||||4058| 22 45996266 . C T . . ANN=T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|20/20|c.2052C>T|p.Gly684Gly|2199/2947|2052/2112|684/703||,T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|17/17|c.2052C>T|p.Gly684Gly|2147/2896|2052/2112|684/703||,T|downstream_gene_variant|MODIFIER|CTA-941F9.9|ENSG00000238120|transcript|ENST00000422971|antisense||n.*548G>A|||||4046| 22 45996280 . G A . . ANN=A|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|20/20|c.2066G>A|p.Arg689Gln|2213/2947|2066/2112|689/703||,A|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|17/17|c.2066G>A|p.Arg689Gln|2161/2896|2066/2112|689/703||,A|downstream_gene_variant|MODIFIER|CTA-941F9.9|ENSG00000238120|transcript|ENST00000422971|antisense||n.*548C>T|||||4032| 22 45996293 . C T . . ANN=T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|20/20|c.2079C>T|p.Asn693Asn|2226/2947|2079/2112|693/703||,T|synonymous_variant|LOW|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|17/17|c.2079C>T|p.Asn693Asn|2174/2896|2079/2112|693/703||,T|downstream_gene_variant|MODIFIER|CTA-941F9.9|ENSG00000238120|transcript|ENST00000422971|antisense||n.*548G>A|||||4019| 22 45996298 . A G . . ANN=G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|20/20|c.2084A>G|p.His695Arg|2231/2947|2084/2112|695/703||,G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|17/17|c.2084A>G|p.His695Arg|2179/2896|2084/2112|695/703||,G|downstream_gene_variant|MODIFIER|CTA-941F9.9|ENSG00000238120|transcript|ENST00000422971|antisense||n.*548T>C|||||4014| 22 45996361 . C G . . ANN=G|3_prime_UTR_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|20/20|c.*35C>G|||||35|,G|3_prime_UTR_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|17/17|c.*35C>G|||||35|,G|downstream_gene_variant|MODIFIER|CTA-941F9.9|ENSG00000238120|transcript|ENST00000422971|antisense||n.*548G>C|||||3951| 22 46067998 . C T . . ANN=T|missense_variant|MODERATE|ATXN10|ENSG00000130638|transcript|ENST00000252934|protein_coding|1/12|c.55C>T|p.Pro19Ser|320/3329|55/1428|19/475||,T|missense_variant|MODERATE|ATXN10|ENSG00000130638|transcript|ENST00000381061|protein_coding|1/11|c.55C>T|p.Pro19Ser|321/3135|55/1236|19/411||,T|upstream_gene_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000498009|processed_transcript||n.-1C>T|||||70| 22 46085654 . C T . . ANN=T|missense_variant|MODERATE|ATXN10|ENSG00000130638|transcript|ENST00000252934|protein_coding|2/12|c.179C>T|p.Ala60Val|444/3329|179/1428|60/475||,T|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000381061|protein_coding|1/10|c.117-3222C>T||||||,T|non_coding_exon_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000498009|processed_transcript|2/6|n.353C>T||||||,T|non_coding_exon_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000470722|processed_transcript|2/4|n.138C>T|||||| 22 46085671 . A G . . ANN=G|missense_variant|MODERATE|ATXN10|ENSG00000130638|transcript|ENST00000252934|protein_coding|2/12|c.196A>G|p.Arg66Gly|461/3329|196/1428|66/475||,G|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000381061|protein_coding|1/10|c.117-3205A>G||||||,G|non_coding_exon_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000498009|processed_transcript|2/6|n.370A>G||||||,G|non_coding_exon_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000470722|processed_transcript|2/4|n.155A>G|||||| 22 46085782 . A G . . ANN=G|missense_variant&splice_region_variant|MODERATE|ATXN10|ENSG00000130638|transcript|ENST00000252934|protein_coding|2/12|c.307A>G|p.Arg103Gly|572/3329|307/1428|103/475||,G|splice_region_variant&non_coding_exon_variant|LOW|ATXN10|ENSG00000130638|transcript|ENST00000498009|processed_transcript|2/6|n.481A>G||||||,G|splice_region_variant&non_coding_exon_variant|LOW|ATXN10|ENSG00000130638|transcript|ENST00000470722|processed_transcript|2/4|n.266A>G||||||,G|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000381061|protein_coding|1/10|c.117-3094A>G|||||| 22 46085795 . C T . . ANN=T|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000252934|protein_coding|2/11|c.308+12C>T||||||,T|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000381061|protein_coding|1/10|c.117-3081C>T||||||,T|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000498009|processed_transcript|2/5|n.482+12C>T||||||,T|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000470722|processed_transcript|2/3|n.267+12C>T|||||| 22 46088888 . G A . . ANN=A|synonymous_variant|LOW|ATXN10|ENSG00000130638|transcript|ENST00000252934|protein_coding|3/12|c.321G>A|p.Thr107Thr|586/3329|321/1428|107/475||,A|synonymous_variant|LOW|ATXN10|ENSG00000130638|transcript|ENST00000381061|protein_coding|2/11|c.129G>A|p.Thr43Thr|395/3135|129/1236|43/411||,A|non_coding_exon_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000498009|processed_transcript|3/6|n.495G>A||||||,A|non_coding_exon_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000470722|processed_transcript|3/4|n.280G>A|||||| 22 46088894 . T C . . ANN=C|synonymous_variant|LOW|ATXN10|ENSG00000130638|transcript|ENST00000252934|protein_coding|3/12|c.327T>C|p.Gly109Gly|592/3329|327/1428|109/475||,C|synonymous_variant|LOW|ATXN10|ENSG00000130638|transcript|ENST00000381061|protein_coding|2/11|c.135T>C|p.Gly45Gly|401/3135|135/1236|45/411||,C|non_coding_exon_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000498009|processed_transcript|3/6|n.501T>C||||||,C|non_coding_exon_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000470722|processed_transcript|3/4|n.286T>C|||||| 22 46088977 . C T . . ANN=T|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000252934|protein_coding|3/11|c.391+19C>T||||||,T|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000381061|protein_coding|2/10|c.199+19C>T||||||,T|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000498009|processed_transcript|3/5|n.565+19C>T||||||,T|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000470722|processed_transcript|3/3|n.350+19C>T|||||| 22 46088978 . A G . . ANN=G|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000252934|protein_coding|3/11|c.391+20A>G||||||,G|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000381061|protein_coding|2/10|c.199+20A>G||||||,G|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000498009|processed_transcript|3/5|n.565+20A>G||||||,G|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000470722|processed_transcript|3/3|n.350+20A>G|||||| 22 46088993 . C G . . ANN=G|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000252934|protein_coding|3/11|c.391+35C>G||||||,G|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000381061|protein_coding|2/10|c.199+35C>G||||||,G|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000498009|processed_transcript|3/5|n.565+35C>G||||||,G|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000470722|processed_transcript|3/3|n.350+35C>G|||||| 22 46089008 . A G . . ANN=G|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000252934|protein_coding|3/11|c.391+50A>G||||||,G|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000381061|protein_coding|2/10|c.199+50A>G||||||,G|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000498009|processed_transcript|3/5|n.565+50A>G||||||,G|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000470722|processed_transcript|3/3|n.350+50A>G|||||| 22 46096174 . G T . . ANN=T|missense_variant|MODERATE|ATXN10|ENSG00000130638|transcript|ENST00000252934|protein_coding|4/12|c.404G>T|p.Gly135Val|669/3329|404/1428|135/475||,T|missense_variant|MODERATE|ATXN10|ENSG00000130638|transcript|ENST00000381061|protein_coding|3/11|c.212G>T|p.Gly71Val|478/3135|212/1236|71/411||,T|upstream_gene_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000476998|processed_transcript||n.-1G>T|||||3679|,T|non_coding_exon_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000498009|processed_transcript|4/6|n.578G>T||||||,T|non_coding_exon_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000470722|processed_transcript|4/4|n.363G>T|||||| 22 46114244 . C T . . ANN=T|upstream_gene_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000483549|retained_intron||n.-1C>T|||||59|,T|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000252934|protein_coding|5/11|c.648-49C>T||||||,T|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000381061|protein_coding|4/10|c.456-49C>T||||||,T|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000498009|processed_transcript|5/5|n.822-49C>T||||||,T|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000476998|processed_transcript|1/3|n.127-49C>T|||||| 22 46114249 . A G . . ANN=G|upstream_gene_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000483549|retained_intron||n.-1A>G|||||54|,G|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000252934|protein_coding|5/11|c.648-44A>G||||||,G|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000381061|protein_coding|4/10|c.456-44A>G||||||,G|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000498009|processed_transcript|5/5|n.822-44A>G||||||,G|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000476998|processed_transcript|1/3|n.127-44A>G|||||| 22 46114289 . C G . . ANN=G|splice_region_variant&intron_variant|LOW|ATXN10|ENSG00000130638|transcript|ENST00000252934|protein_coding|5/11|c.648-4C>G||||||,G|splice_region_variant&intron_variant|LOW|ATXN10|ENSG00000130638|transcript|ENST00000381061|protein_coding|4/10|c.456-4C>G||||||,G|splice_region_variant&intron_variant|LOW|ATXN10|ENSG00000130638|transcript|ENST00000498009|processed_transcript|5/5|n.822-4C>G||||||,G|splice_region_variant&intron_variant|LOW|ATXN10|ENSG00000130638|transcript|ENST00000476998|processed_transcript|1/3|n.127-4C>G||||||,G|upstream_gene_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000483549|retained_intron||n.-1C>G|||||14| 22 46114398 . G T . . ANN=T|downstream_gene_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000498009|processed_transcript||n.*873G>T|||||54|,T|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000252934|protein_coding|6/11|c.728+25G>T||||||,T|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000381061|protein_coding|5/10|c.536+25G>T||||||,T|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000476998|processed_transcript|2/3|n.207+25G>T||||||,T|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000483549|retained_intron|1/3|n.71+25G>T|||||| 22 46125284 . G T . . ANN=T|upstream_gene_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000435026|protein_coding||c.-1G>T|||||37|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000252934|protein_coding|6/11|c.729-21G>T||||||,T|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000381061|protein_coding|5/10|c.537-21G>T||||||,T|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000476998|processed_transcript|2/3|n.208-21G>T||||||,T|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000483549|retained_intron|1/3|n.72-21G>T|||||| 22 46125296 . G A . . ANN=A|upstream_gene_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000435026|protein_coding||c.-1G>A|||||25|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000252934|protein_coding|6/11|c.729-9G>A||||||,A|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000381061|protein_coding|5/10|c.537-9G>A||||||,A|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000476998|processed_transcript|2/3|n.208-9G>A||||||,A|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000483549|retained_intron|1/3|n.72-9G>A|||||| 22 46125385 . G A . . ANN=A|missense_variant|MODERATE|ATXN10|ENSG00000130638|transcript|ENST00000252934|protein_coding|7/12|c.809G>A|p.Arg270Gln|1074/3329|809/1428|270/475||,A|missense_variant|MODERATE|ATXN10|ENSG00000130638|transcript|ENST00000381061|protein_coding|6/11|c.617G>A|p.Arg206Gln|883/3135|617/1236|206/411||,A|missense_variant|MODERATE|ATXN10|ENSG00000130638|transcript|ENST00000435026|protein_coding|1/5|c.65G>A|p.Arg22Gln|65/653|65/594|22/197||WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000476998|processed_transcript|3/4|n.288G>A||||||,A|non_coding_exon_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000483549|retained_intron|2/4|n.152G>A|||||| 22 46125442 . T A . . ANN=A|missense_variant|MODERATE|ATXN10|ENSG00000130638|transcript|ENST00000252934|protein_coding|7/12|c.866T>A|p.Leu289Gln|1131/3329|866/1428|289/475||,A|missense_variant|MODERATE|ATXN10|ENSG00000130638|transcript|ENST00000381061|protein_coding|6/11|c.674T>A|p.Leu225Gln|940/3135|674/1236|225/411||,A|missense_variant|MODERATE|ATXN10|ENSG00000130638|transcript|ENST00000435026|protein_coding|1/5|c.122T>A|p.Leu41Gln|122/653|122/594|41/197||WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000476998|processed_transcript|3/4|n.345T>A||||||,A|non_coding_exon_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000483549|retained_intron|2/4|n.209T>A|||||| 22 46125462 . G A . . ANN=A|missense_variant|MODERATE|ATXN10|ENSG00000130638|transcript|ENST00000252934|protein_coding|7/12|c.886G>A|p.Asp296Asn|1151/3329|886/1428|296/475||,A|missense_variant|MODERATE|ATXN10|ENSG00000130638|transcript|ENST00000381061|protein_coding|6/11|c.694G>A|p.Asp232Asn|960/3135|694/1236|232/411||,A|missense_variant|MODERATE|ATXN10|ENSG00000130638|transcript|ENST00000435026|protein_coding|1/5|c.142G>A|p.Asp48Asn|142/653|142/594|48/197||WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000476998|processed_transcript|3/4|n.365G>A||||||,A|non_coding_exon_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000483549|retained_intron|2/4|n.229G>A|||||| 22 46125480 . G T . . ANN=T|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000252934|protein_coding|7/11|c.894+10G>T||||||,T|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000381061|protein_coding|6/10|c.702+10G>T||||||,T|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000476998|processed_transcript|3/3|n.373+10G>T||||||,T|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000483549|retained_intron|2/3|n.237+10G>T||||||,T|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000435026|protein_coding|1/4|c.150+10G>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 46136298 . C T . . ANN=T|synonymous_variant|LOW|ATXN10|ENSG00000130638|transcript|ENST00000252934|protein_coding|9/12|c.1053C>T|p.Phe351Phe|1318/3329|1053/1428|351/475||,T|synonymous_variant|LOW|ATXN10|ENSG00000130638|transcript|ENST00000381061|protein_coding|8/11|c.861C>T|p.Phe287Phe|1127/3135|861/1236|287/411||,T|synonymous_variant|LOW|ATXN10|ENSG00000130638|transcript|ENST00000435026|protein_coding|3/5|c.309C>T|p.Phe103Phe|309/653|309/594|103/197||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|ATXN10|ENSG00000130638|transcript|ENST00000451241|protein_coding|2/4|c.150C>T|p.Phe50Phe|151/514|150/513|50/170||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000464482|processed_transcript||n.-1C>T|||||92|,T|downstream_gene_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000476998|processed_transcript||n.*482C>T|||||1579|,T|non_coding_exon_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000483549|retained_intron|4/4|n.396C>T||||||,T|non_coding_exon_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000493643|processed_transcript|3/6|n.242C>T|||||| 22 46136372 . G A . . ANN=A|missense_variant|MODERATE|ATXN10|ENSG00000130638|transcript|ENST00000252934|protein_coding|9/12|c.1127G>A|p.Arg376His|1392/3329|1127/1428|376/475||,A|missense_variant|MODERATE|ATXN10|ENSG00000130638|transcript|ENST00000381061|protein_coding|8/11|c.935G>A|p.Arg312His|1201/3135|935/1236|312/411||,A|missense_variant|MODERATE|ATXN10|ENSG00000130638|transcript|ENST00000435026|protein_coding|3/5|c.383G>A|p.Arg128His|383/653|383/594|128/197||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|ATXN10|ENSG00000130638|transcript|ENST00000451241|protein_coding|2/4|c.224G>A|p.Arg75His|225/514|224/513|75/170||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000464482|processed_transcript||n.-1G>A|||||18|,A|downstream_gene_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000476998|processed_transcript||n.*482G>A|||||1653|,A|non_coding_exon_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000483549|retained_intron|4/4|n.470G>A||||||,A|non_coding_exon_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000493643|processed_transcript|3/6|n.316G>A|||||| 22 46136438 . T C . . ANN=C|downstream_gene_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000476998|processed_transcript||n.*482T>C|||||1719|,C|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000252934|protein_coding|9/11|c.1173+20T>C||||||,C|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000381061|protein_coding|8/10|c.981+20T>C||||||,C|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000435026|protein_coding|3/4|c.429+20T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000493643|processed_transcript|3/5|n.362+20T>C||||||,C|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000451241|protein_coding|2/3|c.270+20T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000464482|processed_transcript|1/1|n.29+20T>C||||||,C|non_coding_exon_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000483549|retained_intron|4/4|n.536T>C|||||| 22 46202819 . C T . . ANN=T|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000252934|protein_coding|9/11|c.1174-20C>T||||||,T|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000381061|protein_coding|8/10|c.982-20C>T||||||,T|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000435026|protein_coding|3/4|c.430-20C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000493643|processed_transcript|3/5|n.363-20C>T||||||,T|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000451241|protein_coding|2/3|c.271-20C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000402380|protein_coding|1/3|c.127-20C>T|||||| 22 46202925 . A G . . ANN=G|synonymous_variant|LOW|ATXN10|ENSG00000130638|transcript|ENST00000451241|protein_coding|3/4|c.357A>G|p.Pro119Pro|358/514|357/513|119/170||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000252934|protein_coding|10/11|c.1237+23A>G||||||,G|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000381061|protein_coding|9/10|c.1045+23A>G||||||,G|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000435026|protein_coding|4/4|c.493+23A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000493643|processed_transcript|4/5|n.426+23A>G||||||,G|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000402380|protein_coding|2/3|c.190+23A>G|||||| 22 46238838 . G A . . ANN=A|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000252934|protein_coding|10/11|c.1238-33G>A||||||,A|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000381061|protein_coding|9/10|c.1046-33G>A||||||,A|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000493643|processed_transcript|4/5|n.427-33G>A||||||,A|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000402380|protein_coding|2/3|c.191-33G>A|||||| 22 46238911 . C T . . ANN=T|synonymous_variant|LOW|ATXN10|ENSG00000130638|transcript|ENST00000252934|protein_coding|11/12|c.1278C>T|p.Thr426Thr|1543/3329|1278/1428|426/475||,T|synonymous_variant|LOW|ATXN10|ENSG00000130638|transcript|ENST00000381061|protein_coding|10/11|c.1086C>T|p.Thr362Thr|1352/3135|1086/1236|362/411||,T|synonymous_variant|LOW|ATXN10|ENSG00000130638|transcript|ENST00000402380|protein_coding|3/4|c.231C>T|p.Thr77Thr|288/564|231/381|77/126||,T|non_coding_exon_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000493643|processed_transcript|5/6|n.467C>T|||||| 22 46238914 . A C . . ANN=C|missense_variant|MODERATE|ATXN10|ENSG00000130638|transcript|ENST00000252934|protein_coding|11/12|c.1281A>C|p.Glu427Asp|1546/3329|1281/1428|427/475||,C|missense_variant|MODERATE|ATXN10|ENSG00000130638|transcript|ENST00000381061|protein_coding|10/11|c.1089A>C|p.Glu363Asp|1355/3135|1089/1236|363/411||,C|missense_variant|MODERATE|ATXN10|ENSG00000130638|transcript|ENST00000402380|protein_coding|3/4|c.234A>C|p.Glu78Asp|291/564|234/381|78/126||,C|non_coding_exon_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000493643|processed_transcript|5/6|n.470A>C|||||| 22 46238930 . C A . . ANN=A|missense_variant|MODERATE|ATXN10|ENSG00000130638|transcript|ENST00000252934|protein_coding|11/12|c.1297C>A|p.Gln433Lys|1562/3329|1297/1428|433/475||,A|missense_variant|MODERATE|ATXN10|ENSG00000130638|transcript|ENST00000381061|protein_coding|10/11|c.1105C>A|p.Gln369Lys|1371/3135|1105/1236|369/411||,A|missense_variant|MODERATE|ATXN10|ENSG00000130638|transcript|ENST00000402380|protein_coding|3/4|c.250C>A|p.Gln84Lys|307/564|250/381|84/126||,A|non_coding_exon_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000493643|processed_transcript|5/6|n.486C>A|||||| 22 46239534 . TTTC T . . ANN=|splice_region_variant&intron_variant|LOW|ATXN10|ENSG00000130638|transcript|ENST00000252934|protein_coding|11/11|c.1426-6_1426-4delCTT||||||INFO_REALIGN_3_PRIME,|splice_region_variant&intron_variant|LOW|ATXN10|ENSG00000130638|transcript|ENST00000381061|protein_coding|10/10|c.1234-6_1234-4delCTT||||||INFO_REALIGN_3_PRIME,|splice_region_variant&intron_variant|LOW|ATXN10|ENSG00000130638|transcript|ENST00000493643|processed_transcript|5/5|n.615-6_615-4delCTT||||||INFO_REALIGN_3_PRIME,|splice_region_variant&intron_variant|LOW|ATXN10|ENSG00000130638|transcript|ENST00000402380|protein_coding|3/3|c.379-6_379-4delCTT||||||INFO_REALIGN_3_PRIME 22 46318697 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000409496|protein_coding|4/4|c.*39G>A|||||39|,T|3_prime_UTR_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000339464|protein_coding|4/4|c.*39G>A|||||39|,T|3_prime_UTR_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000410089|protein_coding|4/4|c.*39G>A|||||39|,T|downstream_gene_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000410058|protein_coding||c.*669G>A|||||4665| 22 46318726 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000409496|protein_coding|4/4|c.*10C>T|||||10|,A|3_prime_UTR_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000339464|protein_coding|4/4|c.*10C>T|||||10|,A|3_prime_UTR_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000410089|protein_coding|4/4|c.*10C>T|||||10|,A|downstream_gene_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000410058|protein_coding||c.*669C>T|||||4636| 22 46318739 . C T . . ANN=T|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000409496|protein_coding|4/4|c.1059G>A|p.Lys353Lys|1537/2285|1059/1062|353/353||,T|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000339464|protein_coding|4/4|c.1047G>A|p.Lys349Lys|1422/3919|1047/1050|349/349||,T|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000410089|protein_coding|4/4|c.999G>A|p.Lys333Lys|1454/2202|999/1002|333/333||,T|downstream_gene_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000410058|protein_coding||c.*669G>A|||||4623| 22 46318757 . G A . . ANN=A|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000409496|protein_coding|4/4|c.1041C>T|p.Thr347Thr|1519/2285|1041/1062|347/353||,A|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000339464|protein_coding|4/4|c.1029C>T|p.Thr343Thr|1404/3919|1029/1050|343/349||,A|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000410089|protein_coding|4/4|c.981C>T|p.Thr327Thr|1436/2202|981/1002|327/333||,A|downstream_gene_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000410058|protein_coding||c.*669C>T|||||4605| 22 46318859 . G A . . ANN=A|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000409496|protein_coding|4/4|c.939C>T|p.Cys313Cys|1417/2285|939/1062|313/353||,A|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000339464|protein_coding|4/4|c.927C>T|p.Cys309Cys|1302/3919|927/1050|309/349||,A|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000410089|protein_coding|4/4|c.879C>T|p.Cys293Cys|1334/2202|879/1002|293/333||,A|sequence_feature|LOW|WNT7B|ENSG00000188064|disulfide_bond|ENST00000339464|protein_coding|4/4|c.927C>T||||||,A|downstream_gene_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000410058|protein_coding||c.*669C>T|||||4503| 22 46318880 . G A . . ANN=A|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000409496|protein_coding|4/4|c.918C>T|p.Asp306Asp|1396/2285|918/1062|306/353||,A|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000339464|protein_coding|4/4|c.906C>T|p.Asp302Asp|1281/3919|906/1050|302/349||,A|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000410089|protein_coding|4/4|c.858C>T|p.Asp286Asp|1313/2202|858/1002|286/333||,A|sequence_feature|LOW|WNT7B|ENSG00000188064|disulfide_bond|ENST00000339464|protein_coding|4/4|c.906C>T||||||,A|downstream_gene_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000410058|protein_coding||c.*669C>T|||||4482| 22 46318884 . G A . . ANN=A|missense_variant|MODERATE|WNT7B|ENSG00000188064|transcript|ENST00000409496|protein_coding|4/4|c.914C>T|p.Ala305Val|1392/2285|914/1062|305/353||,A|missense_variant|MODERATE|WNT7B|ENSG00000188064|transcript|ENST00000339464|protein_coding|4/4|c.902C>T|p.Ala301Val|1277/3919|902/1050|301/349||,A|missense_variant|MODERATE|WNT7B|ENSG00000188064|transcript|ENST00000410089|protein_coding|4/4|c.854C>T|p.Ala285Val|1309/2202|854/1002|285/333||,A|sequence_feature|LOW|WNT7B|ENSG00000188064|disulfide_bond|ENST00000339464|protein_coding|4/4|c.902C>T||||||,A|downstream_gene_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000410058|protein_coding||c.*669C>T|||||4478| 22 46318892 . C T . . ANN=T|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000409496|protein_coding|4/4|c.906G>A|p.Ser302Ser|1384/2285|906/1062|302/353||,T|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000339464|protein_coding|4/4|c.894G>A|p.Ser298Ser|1269/3919|894/1050|298/349||,T|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000410089|protein_coding|4/4|c.846G>A|p.Ser282Ser|1301/2202|846/1002|282/333||,T|sequence_feature|LOW|WNT7B|ENSG00000188064|disulfide_bond|ENST00000339464|protein_coding|4/4|c.894G>A||||||,T|downstream_gene_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000410058|protein_coding||c.*669G>A|||||4470| 22 46318934 . C T . . ANN=T|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000409496|protein_coding|4/4|c.864G>A|p.Thr288Thr|1342/2285|864/1062|288/353||,T|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000339464|protein_coding|4/4|c.852G>A|p.Thr284Thr|1227/3919|852/1050|284/349||,T|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000410089|protein_coding|4/4|c.804G>A|p.Thr268Thr|1259/2202|804/1002|268/333||,T|downstream_gene_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000410058|protein_coding||c.*669G>A|||||4428| 22 46319014 . G A . . ANN=A|missense_variant|MODERATE|WNT7B|ENSG00000188064|transcript|ENST00000409496|protein_coding|4/4|c.784C>T|p.Arg262Cys|1262/2285|784/1062|262/353||,A|missense_variant|MODERATE|WNT7B|ENSG00000188064|transcript|ENST00000339464|protein_coding|4/4|c.772C>T|p.Arg258Cys|1147/3919|772/1050|258/349||,A|missense_variant|MODERATE|WNT7B|ENSG00000188064|transcript|ENST00000410089|protein_coding|4/4|c.724C>T|p.Arg242Cys|1179/2202|724/1002|242/333||,A|downstream_gene_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000410058|protein_coding||c.*669C>T|||||4348| 22 46319036 . G T . . ANN=T|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000409496|protein_coding|4/4|c.762C>A|p.Thr254Thr|1240/2285|762/1062|254/353||,T|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000339464|protein_coding|4/4|c.750C>A|p.Thr250Thr|1125/3919|750/1050|250/349||,T|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000410089|protein_coding|4/4|c.702C>A|p.Thr234Thr|1157/2202|702/1002|234/333||,T|downstream_gene_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000410058|protein_coding||c.*669C>A|||||4326| 22 46319063 . C T . . ANN=T|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000409496|protein_coding|4/4|c.735G>A|p.Val245Val|1213/2285|735/1062|245/353||,T|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000339464|protein_coding|4/4|c.723G>A|p.Val241Val|1098/3919|723/1050|241/349||,T|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000410089|protein_coding|4/4|c.675G>A|p.Val225Val|1130/2202|675/1002|225/333||,T|downstream_gene_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000410058|protein_coding||c.*669G>A|||||4299| 22 46319159 . G A . . ANN=A|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000409496|protein_coding|4/4|c.639C>T|p.Cys213Cys|1117/2285|639/1062|213/353||,A|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000339464|protein_coding|4/4|c.627C>T|p.Cys209Cys|1002/3919|627/1050|209/349||,A|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000410089|protein_coding|4/4|c.579C>T|p.Cys193Cys|1034/2202|579/1002|193/333||,A|sequence_feature|LOW|WNT7B|ENSG00000188064|disulfide_bond|ENST00000339464|protein_coding|4/4|c.627C>T||||||,A|downstream_gene_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000410058|protein_coding||c.*669C>T|||||4203| 22 46319177 . G A . . ANN=A|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000409496|protein_coding|4/4|c.621C>T|p.His207His|1099/2285|621/1062|207/353||,A|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000339464|protein_coding|4/4|c.609C>T|p.His203His|984/3919|609/1050|203/349||,A|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000410089|protein_coding|4/4|c.561C>T|p.His187His|1016/2202|561/1002|187/333||,A|sequence_feature|LOW|WNT7B|ENSG00000188064|disulfide_bond|ENST00000339464|protein_coding|4/4|c.609C>T||||||,A|downstream_gene_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000410058|protein_coding||c.*669C>T|||||4185| 22 46319244 . C T . . ANN=T|downstream_gene_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000410058|protein_coding||c.*669G>A|||||4118|,T|intron_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000409496|protein_coding|3/3|c.583-29G>A||||||,T|intron_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000339464|protein_coding|3/3|c.571-29G>A||||||,T|intron_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000410089|protein_coding|3/3|c.523-29G>A|||||| 22 46319245 . G A . . ANN=A|downstream_gene_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000410058|protein_coding||c.*669C>T|||||4117|,A|intron_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000409496|protein_coding|3/3|c.583-30C>T||||||,A|intron_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000339464|protein_coding|3/3|c.571-30C>T||||||,A|intron_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000410089|protein_coding|3/3|c.523-30C>T|||||| 22 46326951 . C T . . ANN=T|downstream_gene_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000428540|protein_coding||c.*521G>A|||||225|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000409496|protein_coding|3/3|c.582+27G>A||||||,T|intron_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000339464|protein_coding|3/3|c.570+27G>A||||||,T|intron_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000410089|protein_coding|3/3|c.522+27G>A||||||,T|intron_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000410058|protein_coding|3/3|c.570+27G>A|||||| 22 46326971 . A C . . ANN=C|splice_region_variant&intron_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000409496|protein_coding|3/3|c.582+7T>G||||||,C|splice_region_variant&intron_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000339464|protein_coding|3/3|c.570+7T>G||||||,C|splice_region_variant&intron_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000410089|protein_coding|3/3|c.522+7T>G||||||,C|splice_region_variant&intron_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000410058|protein_coding|3/3|c.570+7T>G||||||,C|downstream_gene_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000428540|protein_coding||c.*521T>G|||||205|WARNING_TRANSCRIPT_NO_STOP_CODON 22 46327010 . T C . . ANN=C|missense_variant|MODERATE|WNT7B|ENSG00000188064|transcript|ENST00000409496|protein_coding|3/4|c.550A>G|p.Met184Val|1028/2285|550/1062|184/353||,C|missense_variant|MODERATE|WNT7B|ENSG00000188064|transcript|ENST00000339464|protein_coding|3/4|c.538A>G|p.Met180Val|913/3919|538/1050|180/349||,C|missense_variant|MODERATE|WNT7B|ENSG00000188064|transcript|ENST00000410089|protein_coding|3/4|c.490A>G|p.Met164Val|945/2202|490/1002|164/333||,C|missense_variant|MODERATE|WNT7B|ENSG00000188064|transcript|ENST00000410058|protein_coding|3/4|c.538A>G|p.Met180Val|589/714|538/618|180/205||,C|downstream_gene_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000428540|protein_coding||c.*521A>G|||||166|WARNING_TRANSCRIPT_NO_STOP_CODON 22 46327071 . G C . . ANN=C|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000409496|protein_coding|3/4|c.489C>G|p.Gly163Gly|967/2285|489/1062|163/353||,C|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000339464|protein_coding|3/4|c.477C>G|p.Gly159Gly|852/3919|477/1050|159/349||,C|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000410089|protein_coding|3/4|c.429C>G|p.Gly143Gly|884/2202|429/1002|143/333||,C|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000410058|protein_coding|3/4|c.477C>G|p.Gly159Gly|528/714|477/618|159/205||,C|downstream_gene_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000428540|protein_coding||c.*521C>G|||||105|WARNING_TRANSCRIPT_NO_STOP_CODON 22 46327098 . G C . . ANN=C|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000409496|protein_coding|3/4|c.462C>G|p.Gly154Gly|940/2285|462/1062|154/353||,C|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000339464|protein_coding|3/4|c.450C>G|p.Gly150Gly|825/3919|450/1050|150/349||,C|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000410089|protein_coding|3/4|c.402C>G|p.Gly134Gly|857/2202|402/1002|134/333||,C|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000410058|protein_coding|3/4|c.450C>G|p.Gly150Gly|501/714|450/618|150/205||,C|sequence_feature|LOW|WNT7B|ENSG00000188064|disulfide_bond|ENST00000339464|protein_coding|3/4|c.450C>G||||||,C|downstream_gene_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000428540|protein_coding||c.*521C>G|||||78|WARNING_TRANSCRIPT_NO_STOP_CODON 22 46327122 . G C . . ANN=C|missense_variant|MODERATE|WNT7B|ENSG00000188064|transcript|ENST00000409496|protein_coding|3/4|c.438C>G|p.Asn146Lys|916/2285|438/1062|146/353||,C|missense_variant|MODERATE|WNT7B|ENSG00000188064|transcript|ENST00000339464|protein_coding|3/4|c.426C>G|p.Asn142Lys|801/3919|426/1050|142/349||,C|missense_variant|MODERATE|WNT7B|ENSG00000188064|transcript|ENST00000410089|protein_coding|3/4|c.378C>G|p.Asn126Lys|833/2202|378/1002|126/333||,C|missense_variant|MODERATE|WNT7B|ENSG00000188064|transcript|ENST00000410058|protein_coding|3/4|c.426C>G|p.Asn142Lys|477/714|426/618|142/205||,C|sequence_feature|LOW|WNT7B|ENSG00000188064|disulfide_bond|ENST00000339464|protein_coding|3/4|c.426C>G||||||,C|downstream_gene_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000428540|protein_coding||c.*521C>G|||||54|WARNING_TRANSCRIPT_NO_STOP_CODON 22 46327148 . C T . . ANN=T|missense_variant|MODERATE|WNT7B|ENSG00000188064|transcript|ENST00000409496|protein_coding|3/4|c.412G>A|p.Asp138Asn|890/2285|412/1062|138/353||,T|missense_variant|MODERATE|WNT7B|ENSG00000188064|transcript|ENST00000339464|protein_coding|3/4|c.400G>A|p.Asp134Asn|775/3919|400/1050|134/349||,T|missense_variant|MODERATE|WNT7B|ENSG00000188064|transcript|ENST00000410089|protein_coding|3/4|c.352G>A|p.Asp118Asn|807/2202|352/1002|118/333||,T|missense_variant|MODERATE|WNT7B|ENSG00000188064|transcript|ENST00000410058|protein_coding|3/4|c.400G>A|p.Asp134Asn|451/714|400/618|134/205||,T|sequence_feature|LOW|WNT7B|ENSG00000188064|disulfide_bond|ENST00000339464|protein_coding|3/4|c.400G>A||||||,T|downstream_gene_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000428540|protein_coding||c.*521G>A|||||28|WARNING_TRANSCRIPT_NO_STOP_CODON 22 46327188 . G A . . ANN=A|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000409496|protein_coding|3/4|c.372C>T|p.Thr124Thr|850/2285|372/1062|124/353||,A|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000339464|protein_coding|3/4|c.360C>T|p.Thr120Thr|735/3919|360/1050|120/349||,A|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000410089|protein_coding|3/4|c.312C>T|p.Thr104Thr|767/2202|312/1002|104/333||,A|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000410058|protein_coding|3/4|c.360C>T|p.Thr120Thr|411/714|360/618|120/205||,A|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000428540|protein_coding|3/3|c.159C>T|p.Thr53Thr|509/521|159/171|53/56||WARNING_TRANSCRIPT_NO_STOP_CODON 22 46327227 . C A . . ANN=A|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000409496|protein_coding|3/4|c.333G>T|p.Thr111Thr|811/2285|333/1062|111/353||,A|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000339464|protein_coding|3/4|c.321G>T|p.Thr107Thr|696/3919|321/1050|107/349||,A|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000410089|protein_coding|3/4|c.273G>T|p.Thr91Thr|728/2202|273/1002|91/333||,A|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000410058|protein_coding|3/4|c.321G>T|p.Thr107Thr|372/714|321/618|107/205||,A|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000428540|protein_coding|3/3|c.120G>T|p.Thr40Thr|470/521|120/171|40/56||WARNING_TRANSCRIPT_NO_STOP_CODON 22 46327265 . G T . . ANN=T|intron_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000409496|protein_coding|2/3|c.311-16C>A||||||,T|intron_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000339464|protein_coding|2/3|c.299-16C>A||||||,T|intron_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000410089|protein_coding|2/3|c.251-16C>A||||||,T|intron_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000410058|protein_coding|2/3|c.299-16C>A||||||,T|intron_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000428540|protein_coding|2/2|c.98-16C>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 46327266 . G A . . ANN=A|intron_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000409496|protein_coding|2/3|c.311-17C>T||||||,A|intron_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000339464|protein_coding|2/3|c.299-17C>T||||||,A|intron_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000410089|protein_coding|2/3|c.251-17C>T||||||,A|intron_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000410058|protein_coding|2/3|c.299-17C>T||||||,A|intron_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000428540|protein_coding|2/2|c.98-17C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 46327272 . A G . . ANN=G|intron_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000409496|protein_coding|2/3|c.311-23T>C||||||,G|intron_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000339464|protein_coding|2/3|c.299-23T>C||||||,G|intron_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000410089|protein_coding|2/3|c.251-23T>C||||||,G|intron_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000410058|protein_coding|2/3|c.299-23T>C||||||,G|intron_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000428540|protein_coding|2/2|c.98-23T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 46327296 . CA C . . ANN=|intron_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000409496|protein_coding|2/3|c.311-48delT||||||,|intron_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000339464|protein_coding|2/3|c.299-48delT||||||,|intron_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000410089|protein_coding|2/3|c.251-48delT||||||,|intron_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000410058|protein_coding|2/3|c.299-48delT||||||,|intron_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000428540|protein_coding|2/2|c.98-48delT||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 46345815 . G A . . ANN=A|stop_gained|HIGH|WNT7B|ENSG00000188064|transcript|ENST00000409496|protein_coding|2/4|c.295C>T|p.Gln99*|773/2285|295/1062|99/353||,A|stop_gained|HIGH|WNT7B|ENSG00000188064|transcript|ENST00000339464|protein_coding|2/4|c.283C>T|p.Gln95*|658/3919|283/1050|95/349||,A|stop_gained|HIGH|WNT7B|ENSG00000188064|transcript|ENST00000410089|protein_coding|2/4|c.235C>T|p.Gln79*|690/2202|235/1002|79/333||,A|stop_gained|HIGH|WNT7B|ENSG00000188064|transcript|ENST00000410058|protein_coding|2/4|c.283C>T|p.Gln95*|334/714|283/618|95/205||,A|stop_gained|HIGH|WNT7B|ENSG00000188064|transcript|ENST00000428540|protein_coding|2/3|c.82C>T|p.Gln28*|432/521|82/171|28/56||WARNING_TRANSCRIPT_NO_STOP_CODON;LOF=(WNT7B|ENSG00000188064|5|0.80);NMD=(WNT7B|ENSG00000188064|5|0.80) 22 46345825 . G A . . ANN=A|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000409496|protein_coding|2/4|c.285C>T|p.Thr95Thr|763/2285|285/1062|95/353||,A|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000339464|protein_coding|2/4|c.273C>T|p.Thr91Thr|648/3919|273/1050|91/349||,A|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000410089|protein_coding|2/4|c.225C>T|p.Thr75Thr|680/2202|225/1002|75/333||,A|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000410058|protein_coding|2/4|c.273C>T|p.Thr91Thr|324/714|273/618|91/205||,A|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000428540|protein_coding|2/3|c.72C>T|p.Thr24Thr|422/521|72/171|24/56||WARNING_TRANSCRIPT_NO_STOP_CODON 22 46345834 . G A . . ANN=A|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000409496|protein_coding|2/4|c.276C>T|p.Gly92Gly|754/2285|276/1062|92/353||,A|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000339464|protein_coding|2/4|c.264C>T|p.Gly88Gly|639/3919|264/1050|88/349||,A|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000410089|protein_coding|2/4|c.216C>T|p.Gly72Gly|671/2202|216/1002|72/333||,A|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000410058|protein_coding|2/4|c.264C>T|p.Gly88Gly|315/714|264/618|88/205||,A|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000428540|protein_coding|2/3|c.63C>T|p.Gly21Gly|413/521|63/171|21/56||WARNING_TRANSCRIPT_NO_STOP_CODON 22 46345837 . G A . . ANN=A|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000409496|protein_coding|2/4|c.273C>T|p.Leu91Leu|751/2285|273/1062|91/353||,A|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000339464|protein_coding|2/4|c.261C>T|p.Leu87Leu|636/3919|261/1050|87/349||,A|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000410089|protein_coding|2/4|c.213C>T|p.Leu71Leu|668/2202|213/1002|71/333||,A|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000410058|protein_coding|2/4|c.261C>T|p.Leu87Leu|312/714|261/618|87/205||,A|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000428540|protein_coding|2/3|c.60C>T|p.Leu20Leu|410/521|60/171|20/56||WARNING_TRANSCRIPT_NO_STOP_CODON 22 46345900 . C T . . ANN=T|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000409496|protein_coding|2/4|c.210G>A|p.Ala70Ala|688/2285|210/1062|70/353||,T|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000339464|protein_coding|2/4|c.198G>A|p.Ala66Ala|573/3919|198/1050|66/349||,T|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000410089|protein_coding|2/4|c.150G>A|p.Ala50Ala|605/2202|150/1002|50/333||,T|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000410058|protein_coding|2/4|c.198G>A|p.Ala66Ala|249/714|198/618|66/205||,T|5_prime_UTR_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000428540|protein_coding|2/3|c.-4G>A|||||4|WARNING_TRANSCRIPT_NO_STOP_CODON 22 46345930 . G A . . ANN=A|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000409496|protein_coding|2/4|c.180C>T|p.Pro60Pro|658/2285|180/1062|60/353||,A|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000339464|protein_coding|2/4|c.168C>T|p.Pro56Pro|543/3919|168/1050|56/349||,A|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000410089|protein_coding|2/4|c.120C>T|p.Pro40Pro|575/2202|120/1002|40/333||,A|synonymous_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000410058|protein_coding|2/4|c.168C>T|p.Pro56Pro|219/714|168/618|56/205||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|WNT7B|ENSG00000188064|transcript|ENST00000428540|protein_coding|2/3|c.-34C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|5_prime_UTR_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000428540|protein_coding|2/3|c.-34C>T|||||34|WARNING_TRANSCRIPT_NO_STOP_CODON 22 46346058 . C T . . ANN=T|sequence_feature|LOW|WNT7B|ENSG00000188064|signal_peptide|ENST00000339464|protein_coding|1/4|c.72-32G>A||||||,T|sequence_feature|LOW|WNT7B|ENSG00000188064|signal_peptide|ENST00000339464|protein_coding|2/4|c.72-32G>A||||||,T|intron_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000409496|protein_coding|1/3|c.84-32G>A||||||,T|intron_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000339464|protein_coding|1/3|c.72-32G>A||||||,T|intron_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000410089|protein_coding|1/3|c.24-32G>A||||||,T|intron_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000410058|protein_coding|1/3|c.72-32G>A||||||,T|intron_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000428540|protein_coding|1/2|c.-130-32G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 46372519 . G T . . ANN=T|sequence_feature|LOW|WNT7B|ENSG00000188064|signal_peptide|ENST00000339464|protein_coding|1/4|c.71+45C>A||||||,T|sequence_feature|LOW|WNT7B|ENSG00000188064|signal_peptide|ENST00000339464|protein_coding|2/4|c.71+45C>A||||||,T|upstream_gene_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000409496|protein_coding||c.-479C>A|||||3924|,T|upstream_gene_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000410089|protein_coding||c.-456C>A|||||617|,T|upstream_gene_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000428540|protein_coding||c.-351C>A|||||730|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|CR536603.1|ENSG00000265610|transcript|ENST00000578136|miRNA||n.*77C>A|||||239|,T|intron_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000339464|protein_coding|1/3|c.71+45C>A||||||,T|intron_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000410058|protein_coding|1/3|c.71+45C>A|||||| 22 46372520 . C T . . ANN=T|sequence_feature|LOW|WNT7B|ENSG00000188064|signal_peptide|ENST00000339464|protein_coding|1/4|c.71+44G>A||||||,T|sequence_feature|LOW|WNT7B|ENSG00000188064|signal_peptide|ENST00000339464|protein_coding|2/4|c.71+44G>A||||||,T|upstream_gene_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000409496|protein_coding||c.-479G>A|||||3925|,T|upstream_gene_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000410089|protein_coding||c.-456G>A|||||618|,T|upstream_gene_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000428540|protein_coding||c.-351G>A|||||731|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|CR536603.1|ENSG00000265610|transcript|ENST00000578136|miRNA||n.*77G>A|||||238|,T|intron_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000339464|protein_coding|1/3|c.71+44G>A||||||,T|intron_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000410058|protein_coding|1/3|c.71+44G>A|||||| 22 46372528 . G A . . ANN=A|sequence_feature|LOW|WNT7B|ENSG00000188064|signal_peptide|ENST00000339464|protein_coding|1/4|c.71+36C>T||||||,A|sequence_feature|LOW|WNT7B|ENSG00000188064|signal_peptide|ENST00000339464|protein_coding|2/4|c.71+36C>T||||||,A|upstream_gene_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000409496|protein_coding||c.-479C>T|||||3933|,A|upstream_gene_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000410089|protein_coding||c.-456C>T|||||626|,A|upstream_gene_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000428540|protein_coding||c.-351C>T|||||739|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|CR536603.1|ENSG00000265610|transcript|ENST00000578136|miRNA||n.*77C>T|||||230|,A|intron_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000339464|protein_coding|1/3|c.71+36C>T||||||,A|intron_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000410058|protein_coding|1/3|c.71+36C>T|||||| 22 46449810 . C T . . ANN=T|missense_variant|MODERATE|C22orf26|ENSG00000182257|transcript|ENST00000333761|protein_coding|1/3|c.164G>A|p.Gly55Asp|215/1784|164/417|55/138||,T|missense_variant|MODERATE|C22orf26|ENSG00000182257|transcript|ENST00000396008|protein_coding|1/2|c.164G>A|p.Gly55Asp|215/2817|164/417|55/138||,T|sequence_feature|LOW|C22orf26|ENSG00000182257|compositionally_biased_region:Pro-rich|ENST00000333761|protein_coding|1/3|c.164G>A||||||,T|upstream_gene_variant|MODIFIER|RP6-109B7.3|ENSG00000241990|transcript|ENST00000451166|antisense||n.-1C>T|||||530|,T|upstream_gene_variant|MODIFIER|RP6-109B7.3|ENSG00000241990|transcript|ENST00000445441|antisense||n.-1C>T|||||985|,T|downstream_gene_variant|MODIFIER|RP6-109B7.5|ENSG00000273289|transcript|ENST00000608644|antisense||n.*468C>T|||||370|,T|downstream_gene_variant|MODIFIER|RP6-109B7.2|ENSG00000231010|transcript|ENST00000439423|lincRNA||n.*1181G>A|||||1810|,T|intron_variant|MODIFIER|FLJ27365|ENSG00000197182|transcript|ENST00000381051|protein_coding|1/4|c.-2+10C>T||||||,T|intron_variant|MODIFIER|RP6-109B7.3|ENSG00000241990|transcript|ENST00000416202|antisense|1/2|n.216+10C>T|||||| 22 46449889 . T G . . ANN=G|missense_variant|MODERATE|C22orf26|ENSG00000182257|transcript|ENST00000333761|protein_coding|1/3|c.85A>C|p.Asn29His|136/1784|85/417|29/138||,G|missense_variant|MODERATE|C22orf26|ENSG00000182257|transcript|ENST00000396008|protein_coding|1/2|c.85A>C|p.Asn29His|136/2817|85/417|29/138||,G|sequence_feature|LOW|C22orf26|ENSG00000182257|compositionally_biased_region:Pro-rich|ENST00000333761|protein_coding|1/3|c.85A>C||||||,G|upstream_gene_variant|MODIFIER|RP6-109B7.3|ENSG00000241990|transcript|ENST00000451166|antisense||n.-1T>G|||||451|,G|upstream_gene_variant|MODIFIER|RP6-109B7.3|ENSG00000241990|transcript|ENST00000445441|antisense||n.-1T>G|||||906|,G|downstream_gene_variant|MODIFIER|RP6-109B7.5|ENSG00000273289|transcript|ENST00000608644|antisense||n.*468T>G|||||449|,G|downstream_gene_variant|MODIFIER|RP6-109B7.2|ENSG00000231010|transcript|ENST00000439423|lincRNA||n.*1181A>C|||||1731|,G|intron_variant|MODIFIER|FLJ27365|ENSG00000197182|transcript|ENST00000381051|protein_coding|1/4|c.-2+89T>G||||||,G|intron_variant|MODIFIER|RP6-109B7.3|ENSG00000241990|transcript|ENST00000416202|antisense|1/2|n.216+89T>G|||||| 22 46449891 . G A . . ANN=A|missense_variant|MODERATE|C22orf26|ENSG00000182257|transcript|ENST00000333761|protein_coding|1/3|c.83C>T|p.Pro28Leu|134/1784|83/417|28/138||,A|missense_variant|MODERATE|C22orf26|ENSG00000182257|transcript|ENST00000396008|protein_coding|1/2|c.83C>T|p.Pro28Leu|134/2817|83/417|28/138||,A|sequence_feature|LOW|C22orf26|ENSG00000182257|compositionally_biased_region:Pro-rich|ENST00000333761|protein_coding|1/3|c.83C>T||||||,A|upstream_gene_variant|MODIFIER|RP6-109B7.3|ENSG00000241990|transcript|ENST00000451166|antisense||n.-1G>A|||||449|,A|upstream_gene_variant|MODIFIER|RP6-109B7.3|ENSG00000241990|transcript|ENST00000445441|antisense||n.-1G>A|||||904|,A|downstream_gene_variant|MODIFIER|RP6-109B7.5|ENSG00000273289|transcript|ENST00000608644|antisense||n.*468G>A|||||451|,A|downstream_gene_variant|MODIFIER|RP6-109B7.2|ENSG00000231010|transcript|ENST00000439423|lincRNA||n.*1181C>T|||||1729|,A|intron_variant|MODIFIER|FLJ27365|ENSG00000197182|transcript|ENST00000381051|protein_coding|1/4|c.-2+91G>A||||||,A|intron_variant|MODIFIER|RP6-109B7.3|ENSG00000241990|transcript|ENST00000416202|antisense|1/2|n.216+91G>A|||||| 22 46594271 . T C . . ANN=C|5_prime_UTR_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding|3/8|c.-10T>C|||||10|,C|5_prime_UTR_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000440343|protein_coding|4/4|c.-10T>C|||||10|WARNING_TRANSCRIPT_NO_STOP_CODON,C|5_prime_UTR_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000415785|protein_coding|4/4|c.-10T>C|||||10|WARNING_TRANSCRIPT_INCOMPLETE,C|5_prime_UTR_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding|3/8|c.-10T>C|||||10|,C|5_prime_UTR_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000420804|protein_coding|3/4|c.-10T>C|||||10|WARNING_TRANSCRIPT_INCOMPLETE,C|5_prime_UTR_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding|3/8|c.-10T>C|||||10|,C|5_prime_UTR_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000402126|protein_coding|2/7|c.-10T>C|||||10|,C|upstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000434345|protein_coding||c.-1T>C|||||10|,C|non_coding_exon_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000484619|processed_transcript|2/2|n.242T>C||||||,C|non_coding_exon_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000481567|processed_transcript|5/5|n.531T>C||||||,C|non_coding_exon_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000493286|retained_intron|3/6|n.201T>C|||||| 22 46594280 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding|3/8|c.-1G>A|||||1|,A|5_prime_UTR_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000440343|protein_coding|4/4|c.-1G>A|||||1|WARNING_TRANSCRIPT_NO_STOP_CODON,A|5_prime_UTR_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000415785|protein_coding|4/4|c.-1G>A|||||1|WARNING_TRANSCRIPT_INCOMPLETE,A|5_prime_UTR_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding|3/8|c.-1G>A|||||1|,A|5_prime_UTR_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000420804|protein_coding|3/4|c.-1G>A|||||1|WARNING_TRANSCRIPT_INCOMPLETE,A|5_prime_UTR_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding|3/8|c.-1G>A|||||1|,A|5_prime_UTR_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000402126|protein_coding|2/7|c.-1G>A|||||1|,A|upstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000434345|protein_coding||c.-1G>A|||||1|,A|non_coding_exon_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000484619|processed_transcript|2/2|n.251G>A||||||,A|non_coding_exon_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000481567|processed_transcript|5/5|n.540G>A||||||,A|non_coding_exon_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000493286|retained_intron|3/6|n.210G>A|||||| 22 46594319 . A G . . ANN=G|synonymous_variant|LOW|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding|3/8|c.39A>G|p.Pro13Pro|221/9965|39/1407|13/468||,G|synonymous_variant|LOW|PPARA|ENSG00000186951|transcript|ENST00000415785|protein_coding|4/4|c.39A>G|p.Pro13Pro|362/531|39/208|13/68||WARNING_TRANSCRIPT_INCOMPLETE,G|synonymous_variant|LOW|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding|3/8|c.39A>G|p.Pro13Pro|304/10048|39/1407|13/468||,G|synonymous_variant|LOW|PPARA|ENSG00000186951|transcript|ENST00000420804|protein_coding|3/4|c.39A>G|p.Pro13Pro|211/572|39/400|13/132||WARNING_TRANSCRIPT_INCOMPLETE,G|synonymous_variant|LOW|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding|3/8|c.39A>G|p.Pro13Pro|252/9995|39/1407|13/468||,G|synonymous_variant|LOW|PPARA|ENSG00000186951|transcript|ENST00000402126|protein_coding|2/7|c.39A>G|p.Pro13Pro|167/1558|39/1407|13/468||,G|synonymous_variant|LOW|PPARA|ENSG00000186951|transcript|ENST00000434345|protein_coding|1/5|c.39A>G|p.Pro13Pro|39/1204|39/525|13/174||,G|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000440343|protein_coding||c.*368A>G|||||12|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000484619|processed_transcript||n.*278A>G|||||12|,G|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000481567|processed_transcript||n.*567A>G|||||12|,G|non_coding_exon_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000493286|retained_intron|3/6|n.249A>G|||||| 22 46594382 . C T . . ANN=T|synonymous_variant|LOW|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding|3/8|c.102C>T|p.Ile34Ile|284/9965|102/1407|34/468||,T|synonymous_variant|LOW|PPARA|ENSG00000186951|transcript|ENST00000415785|protein_coding|4/4|c.102C>T|p.Ile34Ile|425/531|102/208|34/68||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding|3/8|c.102C>T|p.Ile34Ile|367/10048|102/1407|34/468||,T|synonymous_variant|LOW|PPARA|ENSG00000186951|transcript|ENST00000420804|protein_coding|3/4|c.102C>T|p.Ile34Ile|274/572|102/400|34/132||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding|3/8|c.102C>T|p.Ile34Ile|315/9995|102/1407|34/468||,T|synonymous_variant|LOW|PPARA|ENSG00000186951|transcript|ENST00000402126|protein_coding|2/7|c.102C>T|p.Ile34Ile|230/1558|102/1407|34/468||,T|synonymous_variant|LOW|PPARA|ENSG00000186951|transcript|ENST00000434345|protein_coding|1/5|c.102C>T|p.Ile34Ile|102/1204|102/525|34/174||,T|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000440343|protein_coding||c.*368C>T|||||75|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000484619|processed_transcript||n.*278C>T|||||75|,T|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000481567|processed_transcript||n.*567C>T|||||75|,T|non_coding_exon_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000493286|retained_intron|3/6|n.312C>T|||||| 22 46594436 . G A . . ANN=A|synonymous_variant|LOW|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding|3/8|c.156G>A|p.Thr52Thr|338/9965|156/1407|52/468||,A|synonymous_variant|LOW|PPARA|ENSG00000186951|transcript|ENST00000415785|protein_coding|4/4|c.156G>A|p.Thr52Thr|479/531|156/208|52/68||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding|3/8|c.156G>A|p.Thr52Thr|421/10048|156/1407|52/468||,A|synonymous_variant|LOW|PPARA|ENSG00000186951|transcript|ENST00000420804|protein_coding|3/4|c.156G>A|p.Thr52Thr|328/572|156/400|52/132||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding|3/8|c.156G>A|p.Thr52Thr|369/9995|156/1407|52/468||,A|synonymous_variant|LOW|PPARA|ENSG00000186951|transcript|ENST00000402126|protein_coding|2/7|c.156G>A|p.Thr52Thr|284/1558|156/1407|52/468||,A|synonymous_variant|LOW|PPARA|ENSG00000186951|transcript|ENST00000434345|protein_coding|1/5|c.156G>A|p.Thr52Thr|156/1204|156/525|52/174||,A|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000440343|protein_coding||c.*368G>A|||||129|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000484619|processed_transcript||n.*278G>A|||||129|,A|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000481567|processed_transcript||n.*567G>A|||||129|,A|non_coding_exon_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000493286|retained_intron|3/6|n.366G>A|||||| 22 46611026 . A G . . ANN=G|intron_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding|3/7|c.209-44A>G||||||,G|intron_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding|3/7|c.209-44A>G||||||,G|intron_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000420804|protein_coding|3/3|c.209-44A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding|3/7|c.209-44A>G||||||,G|intron_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000402126|protein_coding|2/6|c.209-44A>G||||||,G|intron_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000493286|retained_intron|3/5|n.419-44A>G||||||,G|intron_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000434345|protein_coding|1/4|c.209-44A>G|||||| 22 46611051 . C T . . ANN=T|intron_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding|3/7|c.209-19C>T||||||,T|intron_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding|3/7|c.209-19C>T||||||,T|intron_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000420804|protein_coding|3/3|c.209-19C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding|3/7|c.209-19C>T||||||,T|intron_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000402126|protein_coding|2/6|c.209-19C>T||||||,T|intron_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000493286|retained_intron|3/5|n.419-19C>T||||||,T|intron_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000434345|protein_coding|1/4|c.209-19C>T|||||| 22 46611106 . C T . . ANN=T|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding|4/8|c.245C>T|p.Thr82Ile|427/9965|245/1407|82/468||,T|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding|4/8|c.245C>T|p.Thr82Ile|510/10048|245/1407|82/468||,T|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000420804|protein_coding|4/4|c.245C>T|p.Thr82Ile|417/572|245/400|82/132||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding|4/8|c.245C>T|p.Thr82Ile|458/9995|245/1407|82/468||,T|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000402126|protein_coding|3/7|c.245C>T|p.Thr82Ile|373/1558|245/1407|82/468||,T|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000434345|protein_coding|2/5|c.245C>T|p.Thr82Ile|245/1204|245/525|82/174||,T|non_coding_exon_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000493286|retained_intron|4/6|n.455C>T|||||| 22 46611153 . T C . . ANN=C|synonymous_variant|LOW|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding|4/8|c.292T>C|p.Leu98Leu|474/9965|292/1407|98/468||,C|synonymous_variant|LOW|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding|4/8|c.292T>C|p.Leu98Leu|557/10048|292/1407|98/468||,C|synonymous_variant|LOW|PPARA|ENSG00000186951|transcript|ENST00000420804|protein_coding|4/4|c.292T>C|p.Leu98Leu|464/572|292/400|98/132||WARNING_TRANSCRIPT_INCOMPLETE,C|synonymous_variant|LOW|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding|4/8|c.292T>C|p.Leu98Leu|505/9995|292/1407|98/468||,C|synonymous_variant|LOW|PPARA|ENSG00000186951|transcript|ENST00000402126|protein_coding|3/7|c.292T>C|p.Leu98Leu|420/1558|292/1407|98/468||,C|synonymous_variant|LOW|PPARA|ENSG00000186951|transcript|ENST00000434345|protein_coding|2/5|c.292T>C|p.Leu98Leu|292/1204|292/525|98/174||,C|non_coding_exon_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000493286|retained_intron|4/6|n.502T>C|||||| 22 46611263 . G A . . ANN=A|sequence_feature|LOW|PPARA|ENSG00000186951|DNA-binding_region:Nuclear_receptor|ENST00000402126|protein_coding|5/7|c.369+33G>A||||||,A|sequence_feature|LOW|PPARA|ENSG00000186951|DNA-binding_region:Nuclear_receptor|ENST00000402126|protein_coding|4/7|c.369+33G>A||||||,A|sequence_feature|LOW|PPARA|ENSG00000186951|DNA-binding_region:Nuclear_receptor|ENST00000402126|protein_coding|3/7|c.369+33G>A||||||,A|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000420804|protein_coding||c.*572G>A|||||2|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding|4/7|c.369+33G>A||||||,A|intron_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding|4/7|c.369+33G>A||||||,A|intron_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding|4/7|c.369+33G>A||||||,A|intron_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000402126|protein_coding|3/6|c.369+33G>A||||||,A|intron_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000493286|retained_intron|4/5|n.579+33G>A||||||,A|intron_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000434345|protein_coding|2/4|c.369+33G>A|||||| 22 46611265 . C T . . ANN=T|sequence_feature|LOW|PPARA|ENSG00000186951|DNA-binding_region:Nuclear_receptor|ENST00000402126|protein_coding|5/7|c.369+35C>T||||||,T|sequence_feature|LOW|PPARA|ENSG00000186951|DNA-binding_region:Nuclear_receptor|ENST00000402126|protein_coding|4/7|c.369+35C>T||||||,T|sequence_feature|LOW|PPARA|ENSG00000186951|DNA-binding_region:Nuclear_receptor|ENST00000402126|protein_coding|3/7|c.369+35C>T||||||,T|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000420804|protein_coding||c.*572C>T|||||4|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding|4/7|c.369+35C>T||||||,T|intron_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding|4/7|c.369+35C>T||||||,T|intron_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding|4/7|c.369+35C>T||||||,T|intron_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000402126|protein_coding|3/6|c.369+35C>T||||||,T|intron_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000493286|retained_intron|4/5|n.579+35C>T||||||,T|intron_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000434345|protein_coding|2/4|c.369+35C>T|||||| 22 46614137 . TCC T . . ANN=|sequence_feature|LOW|PPARA|ENSG00000186951|DNA-binding_region:Nuclear_receptor|ENST00000402126|protein_coding|5/7|c.370-22_370-21delCC||||||,|sequence_feature|LOW|PPARA|ENSG00000186951|DNA-binding_region:Nuclear_receptor|ENST00000402126|protein_coding|4/7|c.370-22_370-21delCC||||||,|sequence_feature|LOW|PPARA|ENSG00000186951|DNA-binding_region:Nuclear_receptor|ENST00000402126|protein_coding|3/7|c.370-22_370-21delCC||||||,|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000420804|protein_coding||c.*572_*572delCC|||||2877|WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding|4/7|c.370-22_370-21delCC||||||,|intron_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding|4/7|c.370-22_370-21delCC||||||,|intron_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding|4/7|c.370-22_370-21delCC||||||,|intron_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000402126|protein_coding|3/6|c.370-22_370-21delCC||||||,|intron_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000493286|retained_intron|4/5|n.580-22_580-21delCC||||||,|intron_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000434345|protein_coding|2/4|c.370-22_370-21delCC|||||| 22 46614147 . A G . . ANN=G|sequence_feature|LOW|PPARA|ENSG00000186951|DNA-binding_region:Nuclear_receptor|ENST00000402126|protein_coding|5/7|c.370-13A>G||||||,G|sequence_feature|LOW|PPARA|ENSG00000186951|DNA-binding_region:Nuclear_receptor|ENST00000402126|protein_coding|4/7|c.370-13A>G||||||,G|sequence_feature|LOW|PPARA|ENSG00000186951|DNA-binding_region:Nuclear_receptor|ENST00000402126|protein_coding|3/7|c.370-13A>G||||||,G|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000420804|protein_coding||c.*572A>G|||||2886|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding|4/7|c.370-13A>G||||||,G|intron_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding|4/7|c.370-13A>G||||||,G|intron_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding|4/7|c.370-13A>G||||||,G|intron_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000402126|protein_coding|3/6|c.370-13A>G||||||,G|intron_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000493286|retained_intron|4/5|n.580-13A>G||||||,G|intron_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000434345|protein_coding|2/4|c.370-13A>G|||||| 22 46614208 . G A . . ANN=A|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding|5/8|c.418G>A|p.Asp140Asn|600/9965|418/1407|140/468||,A|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding|5/8|c.418G>A|p.Asp140Asn|683/10048|418/1407|140/468||,A|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding|5/8|c.418G>A|p.Asp140Asn|631/9995|418/1407|140/468||,A|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000402126|protein_coding|4/7|c.418G>A|p.Asp140Asn|546/1558|418/1407|140/468||,A|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000434345|protein_coding|3/5|c.418G>A|p.Asp140Asn|418/1204|418/525|140/174||,A|sequence_feature|LOW|PPARA|ENSG00000186951|DNA-binding_region:Nuclear_receptor|ENST00000402126|protein_coding|5/7|c.418G>A||||||,A|sequence_feature|LOW|PPARA|ENSG00000186951|DNA-binding_region:Nuclear_receptor|ENST00000402126|protein_coding|4/7|c.418G>A||||||,A|sequence_feature|LOW|PPARA|ENSG00000186951|DNA-binding_region:Nuclear_receptor|ENST00000402126|protein_coding|3/7|c.418G>A||||||,A|sequence_feature|LOW|PPARA|ENSG00000186951|zinc_finger_region:NR_C4-type|ENST00000402126|protein_coding|4/7|c.418G>A||||||,A|sequence_feature|LOW|PPARA|ENSG00000186951|zinc_finger_region:NR_C4-type|ENST00000434345|protein_coding|3/5|c.418G>A||||||,A|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000420804|protein_coding||c.*572G>A|||||2947|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000493286|retained_intron|5/6|n.628G>A|||||| 22 46614274 . C G . . ANN=G|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding|5/8|c.484C>G|p.Leu162Val|666/9965|484/1407|162/468||,G|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding|5/8|c.484C>G|p.Leu162Val|749/10048|484/1407|162/468||,G|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding|5/8|c.484C>G|p.Leu162Val|697/9995|484/1407|162/468||,G|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000402126|protein_coding|4/7|c.484C>G|p.Leu162Val|612/1558|484/1407|162/468||,G|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000434345|protein_coding|3/5|c.484C>G|p.Leu162Val|484/1204|484/525|162/174||,G|sequence_feature|LOW|PPARA|ENSG00000186951|DNA-binding_region:Nuclear_receptor|ENST00000402126|protein_coding|5/7|c.484C>G||||||,G|sequence_feature|LOW|PPARA|ENSG00000186951|DNA-binding_region:Nuclear_receptor|ENST00000402126|protein_coding|4/7|c.484C>G||||||,G|sequence_feature|LOW|PPARA|ENSG00000186951|DNA-binding_region:Nuclear_receptor|ENST00000402126|protein_coding|3/7|c.484C>G||||||,G|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000420804|protein_coding||c.*572C>G|||||3013|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000493286|retained_intron|5/6|n.694C>G|||||| 22 46614333 . G A . . ANN=A|sequence_feature|LOW|PPARA|ENSG00000186951|DNA-binding_region:Nuclear_receptor|ENST00000402126|protein_coding|5/7|c.508+35G>A||||||,A|sequence_feature|LOW|PPARA|ENSG00000186951|DNA-binding_region:Nuclear_receptor|ENST00000402126|protein_coding|4/7|c.508+35G>A||||||,A|sequence_feature|LOW|PPARA|ENSG00000186951|DNA-binding_region:Nuclear_receptor|ENST00000402126|protein_coding|3/7|c.508+35G>A||||||,A|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000420804|protein_coding||c.*572G>A|||||3072|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding|5/7|c.508+35G>A||||||,A|intron_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding|5/7|c.508+35G>A||||||,A|intron_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding|5/7|c.508+35G>A||||||,A|intron_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000402126|protein_coding|4/6|c.508+35G>A||||||,A|intron_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000493286|retained_intron|5/5|n.718+35G>A||||||,A|intron_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000434345|protein_coding|3/4|c.508+35G>A|||||| 22 46615732 . A G . . ANN=G|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding|6/8|c.532A>G|p.Arg178Gly|714/9965|532/1407|178/468||,G|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding|6/8|c.532A>G|p.Arg178Gly|797/10048|532/1407|178/468||,G|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding|6/8|c.532A>G|p.Arg178Gly|745/9995|532/1407|178/468||,G|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000402126|protein_coding|5/7|c.532A>G|p.Arg178Gly|660/1558|532/1407|178/468||,G|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000420804|protein_coding||c.*572A>G|||||4471|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000434345|protein_coding|3/4|c.508+1434A>G||||||,G|non_coding_exon_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000493286|retained_intron|6/6|n.742A>G|||||| 22 46615750 . C T . . ANN=T|synonymous_variant|LOW|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding|6/8|c.550C>T|p.Leu184Leu|732/9965|550/1407|184/468||,T|synonymous_variant|LOW|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding|6/8|c.550C>T|p.Leu184Leu|815/10048|550/1407|184/468||,T|synonymous_variant|LOW|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding|6/8|c.550C>T|p.Leu184Leu|763/9995|550/1407|184/468||,T|synonymous_variant|LOW|PPARA|ENSG00000186951|transcript|ENST00000402126|protein_coding|5/7|c.550C>T|p.Leu184Leu|678/1558|550/1407|184/468||,T|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000420804|protein_coding||c.*572C>T|||||4489|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000434345|protein_coding|3/4|c.508+1452C>T||||||,T|non_coding_exon_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000493286|retained_intron|6/6|n.760C>T|||||| 22 46615880 . T C . . ANN=C|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding|6/8|c.680T>C|p.Val227Ala|862/9965|680/1407|227/468||,C|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding|6/8|c.680T>C|p.Val227Ala|945/10048|680/1407|227/468||,C|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding|6/8|c.680T>C|p.Val227Ala|893/9995|680/1407|227/468||,C|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000402126|protein_coding|5/7|c.680T>C|p.Val227Ala|808/1558|680/1407|227/468||,C|sequence_feature|LOW|PPARA|ENSG00000186951|helix|ENST00000402126|protein_coding|5/7|c.680T>C||||||,C|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000420804|protein_coding||c.*572T>C|||||4619|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000434345|protein_coding|3/4|c.508+1582T>C||||||,C|non_coding_exon_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000493286|retained_intron|6/6|n.890T>C|||||| 22 46615905 . C T . . ANN=T|synonymous_variant|LOW|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding|6/8|c.705C>T|p.Asn235Asn|887/9965|705/1407|235/468||,T|synonymous_variant|LOW|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding|6/8|c.705C>T|p.Asn235Asn|970/10048|705/1407|235/468||,T|synonymous_variant|LOW|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding|6/8|c.705C>T|p.Asn235Asn|918/9995|705/1407|235/468||,T|synonymous_variant|LOW|PPARA|ENSG00000186951|transcript|ENST00000402126|protein_coding|5/7|c.705C>T|p.Asn235Asn|833/1558|705/1407|235/468||,T|sequence_feature|LOW|PPARA|ENSG00000186951|beta_strand|ENST00000402126|protein_coding|5/7|c.705C>T||||||,T|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000420804|protein_coding||c.*572C>T|||||4644|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000434345|protein_coding|3/4|c.508+1607C>T||||||,T|non_coding_exon_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000493286|retained_intron|6/6|n.915C>T|||||| 22 46627735 . C T . . ANN=T|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding|7/8|c.758C>T|p.Thr253Met|940/9965|758/1407|253/468||,T|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding|7/8|c.758C>T|p.Thr253Met|1023/10048|758/1407|253/468||,T|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding|7/8|c.758C>T|p.Thr253Met|971/9995|758/1407|253/468||,T|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000402126|protein_coding|6/7|c.758C>T|p.Thr253Met|886/1558|758/1407|253/468||,T|sequence_feature|LOW|PPARA|ENSG00000186951|helix|ENST00000402126|protein_coding|6/7|c.758C>T||||||,T|3_prime_UTR_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000434345|protein_coding|4/5|c.*30C>T|||||30| 22 46627780 . C T . . ANN=T|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding|7/8|c.803C>T|p.Ala268Val|985/9965|803/1407|268/468||,T|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding|7/8|c.803C>T|p.Ala268Val|1068/10048|803/1407|268/468||,T|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding|7/8|c.803C>T|p.Ala268Val|1016/9995|803/1407|268/468||,T|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000402126|protein_coding|6/7|c.803C>T|p.Ala268Val|931/1558|803/1407|268/468||,T|sequence_feature|LOW|PPARA|ENSG00000186951|helix|ENST00000402126|protein_coding|6/7|c.803C>T||||||,T|3_prime_UTR_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000434345|protein_coding|4/5|c.*75C>T|||||75| 22 46627781 . G A . . ANN=A|synonymous_variant|LOW|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding|7/8|c.804G>A|p.Ala268Ala|986/9965|804/1407|268/468||,A|synonymous_variant|LOW|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding|7/8|c.804G>A|p.Ala268Ala|1069/10048|804/1407|268/468||,A|synonymous_variant|LOW|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding|7/8|c.804G>A|p.Ala268Ala|1017/9995|804/1407|268/468||,A|synonymous_variant|LOW|PPARA|ENSG00000186951|transcript|ENST00000402126|protein_coding|6/7|c.804G>A|p.Ala268Ala|932/1558|804/1407|268/468||,A|sequence_feature|LOW|PPARA|ENSG00000186951|helix|ENST00000402126|protein_coding|6/7|c.804G>A||||||,A|3_prime_UTR_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000434345|protein_coding|4/5|c.*76G>A|||||76| 22 46627847 . C T . . ANN=T|synonymous_variant|LOW|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding|7/8|c.870C>T|p.Phe290Phe|1052/9965|870/1407|290/468||,T|synonymous_variant|LOW|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding|7/8|c.870C>T|p.Phe290Phe|1135/10048|870/1407|290/468||,T|synonymous_variant|LOW|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding|7/8|c.870C>T|p.Phe290Phe|1083/9995|870/1407|290/468||,T|synonymous_variant|LOW|PPARA|ENSG00000186951|transcript|ENST00000402126|protein_coding|6/7|c.870C>T|p.Phe290Phe|998/1558|870/1407|290/468||,T|sequence_feature|LOW|PPARA|ENSG00000186951|helix|ENST00000402126|protein_coding|6/7|c.870C>T||||||,T|sequence_feature|LOW|PPARA|ENSG00000186951|region_of_interest:Ligand-binding|ENST00000402126|protein_coding|6/7|c.870C>T||||||,T|sequence_feature|LOW|PPARA|ENSG00000186951|region_of_interest:Ligand-binding|ENST00000402126|protein_coding|7/7|c.870C>T||||||,T|3_prime_UTR_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000434345|protein_coding|4/5|c.*142C>T|||||142| 22 46627970 . G A . . ANN=A|synonymous_variant|LOW|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding|7/8|c.993G>A|p.Leu331Leu|1175/9965|993/1407|331/468||,A|synonymous_variant|LOW|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding|7/8|c.993G>A|p.Leu331Leu|1258/10048|993/1407|331/468||,A|synonymous_variant|LOW|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding|7/8|c.993G>A|p.Leu331Leu|1206/9995|993/1407|331/468||,A|synonymous_variant|LOW|PPARA|ENSG00000186951|transcript|ENST00000402126|protein_coding|6/7|c.993G>A|p.Leu331Leu|1121/1558|993/1407|331/468||,A|sequence_feature|LOW|PPARA|ENSG00000186951|region_of_interest:Ligand-binding|ENST00000402126|protein_coding|6/7|c.993G>A||||||,A|sequence_feature|LOW|PPARA|ENSG00000186951|region_of_interest:Ligand-binding|ENST00000402126|protein_coding|7/7|c.993G>A||||||,A|sequence_feature|LOW|PPARA|ENSG00000186951|region_of_interest:Required_for_heterodimerization_with_RXRA|ENST00000402126|protein_coding|6/7|c.993G>A||||||,A|sequence_feature|LOW|PPARA|ENSG00000186951|region_of_interest:Required_for_heterodimerization_with_RXRA|ENST00000402126|protein_coding|7/7|c.993G>A||||||,A|sequence_feature|LOW|PPARA|ENSG00000186951|beta_strand|ENST00000402126|protein_coding|6/7|c.993G>A||||||,A|3_prime_UTR_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000434345|protein_coding|4/5|c.*265G>A|||||265| 22 46631027 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding|7/7|c.1160-3T>C||||||,C|splice_region_variant&intron_variant|LOW|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding|7/7|c.1160-3T>C||||||,C|splice_region_variant&intron_variant|LOW|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding|7/7|c.1160-3T>C||||||,C|splice_region_variant&intron_variant|LOW|PPARA|ENSG00000186951|transcript|ENST00000402126|protein_coding|6/6|c.1160-3T>C||||||,C|splice_region_variant&intron_variant|LOW|PPARA|ENSG00000186951|transcript|ENST00000434345|protein_coding|4/4|c.*432-3T>C||||||,C|sequence_feature|LOW|PPARA|ENSG00000186951|region_of_interest:Ligand-binding|ENST00000402126|protein_coding|6/7|c.1160-3T>C||||||,C|sequence_feature|LOW|PPARA|ENSG00000186951|region_of_interest:Ligand-binding|ENST00000402126|protein_coding|7/7|c.1160-3T>C||||||,C|sequence_feature|LOW|PPARA|ENSG00000186951|region_of_interest:Required_for_heterodimerization_with_RXRA|ENST00000402126|protein_coding|6/7|c.1160-3T>C||||||,C|sequence_feature|LOW|PPARA|ENSG00000186951|region_of_interest:Required_for_heterodimerization_with_RXRA|ENST00000402126|protein_coding|7/7|c.1160-3T>C|||||| 22 46631192 . C T . . ANN=T|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding|8/8|c.1322C>T|p.Ala441Val|1504/9965|1322/1407|441/468||,T|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding|8/8|c.1322C>T|p.Ala441Val|1587/10048|1322/1407|441/468||,T|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding|8/8|c.1322C>T|p.Ala441Val|1535/9995|1322/1407|441/468||,T|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000402126|protein_coding|7/7|c.1322C>T|p.Ala441Val|1450/1558|1322/1407|441/468||,T|sequence_feature|LOW|PPARA|ENSG00000186951|region_of_interest:Ligand-binding|ENST00000402126|protein_coding|6/7|c.1322C>T||||||,T|sequence_feature|LOW|PPARA|ENSG00000186951|region_of_interest:Ligand-binding|ENST00000402126|protein_coding|7/7|c.1322C>T||||||,T|sequence_feature|LOW|PPARA|ENSG00000186951|helix|ENST00000402126|protein_coding|7/7|c.1322C>T||||||,T|3_prime_UTR_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000434345|protein_coding|5/5|c.*594C>T|||||3487| 22 46631206 . A C . . ANN=C|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding|8/8|c.1336A>C|p.Ile446Leu|1518/9965|1336/1407|446/468||,C|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding|8/8|c.1336A>C|p.Ile446Leu|1601/10048|1336/1407|446/468||,C|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding|8/8|c.1336A>C|p.Ile446Leu|1549/9995|1336/1407|446/468||,C|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000402126|protein_coding|7/7|c.1336A>C|p.Ile446Leu|1464/1558|1336/1407|446/468||,C|sequence_feature|LOW|PPARA|ENSG00000186951|region_of_interest:Ligand-binding|ENST00000402126|protein_coding|6/7|c.1336A>C||||||,C|sequence_feature|LOW|PPARA|ENSG00000186951|region_of_interest:Ligand-binding|ENST00000402126|protein_coding|7/7|c.1336A>C||||||,C|sequence_feature|LOW|PPARA|ENSG00000186951|helix|ENST00000402126|protein_coding|7/7|c.1336A>C||||||,C|3_prime_UTR_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000434345|protein_coding|5/5|c.*608A>C|||||3501| 22 46631305 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding|8/8|c.*28C>T|||||28|,T|3_prime_UTR_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding|8/8|c.*28C>T|||||28|,T|3_prime_UTR_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding|8/8|c.*28C>T|||||28|,T|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000402126|protein_coding||c.*1535C>T|||||5|,T|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000434345|protein_coding||c.*525C>T|||||28| 22 46640967 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000314567|protein_coding|4/4|c.*22C>T|||||22|,A|3_prime_UTR_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000404583|protein_coding|3/3|c.*22C>T|||||22|,A|3_prime_UTR_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000381037|nonsense_mediated_decay|5/5|n.*247C>T|||||1681|,A|3_prime_UTR_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000404744|protein_coding|4/4|c.*173C>T|||||1607|,A|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding||c.*1589G>A|||||1314|,A|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding||c.*1672G>A|||||1314|,A|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding||c.*1620G>A|||||1315|,A|non_coding_exon_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000381037|nonsense_mediated_decay|5/5|n.*247C>T||||||,A|non_coding_exon_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000475605|processed_transcript|2/2|n.208C>T||||||,A|non_coding_exon_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000474256|processed_transcript|3/3|n.337C>T|||||| 22 46640992 . C T . . ANN=T|synonymous_variant|LOW|CDPF1|ENSG00000205643|transcript|ENST00000314567|protein_coding|4/4|c.369G>A|p.Thr123Thr|793/1875|369/372|123/123||,T|synonymous_variant|LOW|CDPF1|ENSG00000205643|transcript|ENST00000404583|protein_coding|3/3|c.354G>A|p.Thr118Thr|355/1439|354/357|118/118||,T|3_prime_UTR_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000381037|nonsense_mediated_decay|5/5|n.*222G>A|||||1656|,T|3_prime_UTR_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000404744|protein_coding|4/4|c.*148G>A|||||1582|,T|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding||c.*1589C>T|||||1339|,T|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding||c.*1672C>T|||||1339|,T|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding||c.*1620C>T|||||1340|,T|non_coding_exon_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000381037|nonsense_mediated_decay|5/5|n.*222G>A||||||,T|non_coding_exon_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000475605|processed_transcript|2/2|n.183G>A||||||,T|non_coding_exon_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000474256|processed_transcript|3/3|n.312G>A|||||| 22 46642967 . C T . . ANN=T|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding||c.*1589C>T|||||3314|,T|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding||c.*1672C>T|||||3314|,T|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding||c.*1620C>T|||||3315|,T|intron_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000314567|protein_coding|3/3|c.225+40G>A||||||,T|intron_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000404583|protein_coding|2/2|c.210+55G>A||||||,T|intron_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000381037|nonsense_mediated_decay|3/4|n.225+40G>A||||||,T|intron_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000404744|protein_coding|2/3|c.229+36G>A||||||,T|intron_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000475605|processed_transcript|1/1|n.40-1832G>A||||||,T|intron_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000474256|processed_transcript|2/2|n.168+40G>A|||||| 22 46643023 . A C . . ANN=C|missense_variant|MODERATE|CDPF1|ENSG00000205643|transcript|ENST00000314567|protein_coding|3/4|c.209T>G|p.Leu70Arg|633/1875|209/372|70/123||,C|missense_variant&splice_region_variant|MODERATE|CDPF1|ENSG00000205643|transcript|ENST00000404583|protein_coding|2/3|c.209T>G|p.Leu70Arg|210/1439|209/357|70/118||,C|missense_variant|MODERATE|CDPF1|ENSG00000205643|transcript|ENST00000404744|protein_coding|2/4|c.209T>G|p.Leu70Arg|210/1541|209/348|70/115||,C|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding||c.*1589A>C|||||3370|,C|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding||c.*1672A>C|||||3370|,C|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding||c.*1620A>C|||||3371|,C|intron_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000475605|processed_transcript|1/1|n.40-1888T>G||||||,C|non_coding_exon_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000381037|nonsense_mediated_decay|3/5|n.209T>G||||||,C|non_coding_exon_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000474256|processed_transcript|2/3|n.152T>G|||||| 22 46643124 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|CDPF1|ENSG00000205643|transcript|ENST00000314567|protein_coding|2/3|c.114-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CDPF1|ENSG00000205643|transcript|ENST00000404583|protein_coding|1/2|c.114-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CDPF1|ENSG00000205643|transcript|ENST00000381037|nonsense_mediated_decay|2/4|n.114-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CDPF1|ENSG00000205643|transcript|ENST00000404744|protein_coding|1/3|c.114-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CDPF1|ENSG00000205643|transcript|ENST00000474256|processed_transcript|1/2|n.57-6C>T||||||,A|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding||c.*1589G>A|||||3471|,A|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding||c.*1672G>A|||||3471|,A|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding||c.*1620G>A|||||3472|,A|intron_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000475605|processed_transcript|1/1|n.40-1989C>T|||||| 22 46643131 . GA G . . ANN=|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding||c.*1589delA|||||3479|,|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding||c.*1672delA|||||3479|,|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding||c.*1620delA|||||3480|,|intron_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000314567|protein_coding|2/3|c.114-14delT||||||,|intron_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000404583|protein_coding|1/2|c.114-14delT||||||,|intron_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000381037|nonsense_mediated_decay|2/4|n.114-14delT||||||,|intron_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000404744|protein_coding|1/3|c.114-14delT||||||,|intron_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000475605|processed_transcript|1/1|n.40-1997delT||||||,|intron_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000474256|processed_transcript|1/2|n.57-14delT|||||| 22 46643132 . A G . . ANN=G|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding||c.*1589A>G|||||3479|,G|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding||c.*1672A>G|||||3479|,G|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding||c.*1620A>G|||||3480|,G|intron_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000314567|protein_coding|2/3|c.114-14T>C||||||,G|intron_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000404583|protein_coding|1/2|c.114-14T>C||||||,G|intron_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000381037|nonsense_mediated_decay|2/4|n.114-14T>C||||||,G|intron_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000404744|protein_coding|1/3|c.114-14T>C||||||,G|intron_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000475605|processed_transcript|1/1|n.40-1997T>C||||||,G|intron_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000474256|processed_transcript|1/2|n.57-14T>C|||||| 22 46643133 . A T . . ANN=T|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding||c.*1589A>T|||||3480|,T|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding||c.*1672A>T|||||3480|,T|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding||c.*1620A>T|||||3481|,T|intron_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000314567|protein_coding|2/3|c.114-15T>A||||||,T|intron_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000404583|protein_coding|1/2|c.114-15T>A||||||,T|intron_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000381037|nonsense_mediated_decay|2/4|n.114-15T>A||||||,T|intron_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000404744|protein_coding|1/3|c.114-15T>A||||||,T|intron_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000475605|processed_transcript|1/1|n.40-1998T>A||||||,T|intron_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000474256|processed_transcript|1/2|n.57-15T>A|||||| 22 46643134 . T G . . ANN=G|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding||c.*1589T>G|||||3481|,G|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding||c.*1672T>G|||||3481|,G|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding||c.*1620T>G|||||3482|,G|intron_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000314567|protein_coding|2/3|c.114-16A>C||||||,G|intron_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000404583|protein_coding|1/2|c.114-16A>C||||||,G|intron_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000381037|nonsense_mediated_decay|2/4|n.114-16A>C||||||,G|intron_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000404744|protein_coding|1/3|c.114-16A>C||||||,G|intron_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000475605|processed_transcript|1/1|n.40-1999A>C||||||,G|intron_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000474256|processed_transcript|1/2|n.57-16A>C|||||| 22 46643135 . G C . . ANN=C|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding||c.*1589G>C|||||3482|,C|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding||c.*1672G>C|||||3482|,C|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding||c.*1620G>C|||||3483|,C|intron_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000314567|protein_coding|2/3|c.114-17C>G||||||,C|intron_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000404583|protein_coding|1/2|c.114-17C>G||||||,C|intron_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000381037|nonsense_mediated_decay|2/4|n.114-17C>G||||||,C|intron_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000404744|protein_coding|1/3|c.114-17C>G||||||,C|intron_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000475605|processed_transcript|1/1|n.40-2000C>G||||||,C|intron_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000474256|processed_transcript|1/2|n.57-17C>G|||||| 22 46644159 . C G . . ANN=G|missense_variant|MODERATE|CDPF1|ENSG00000205643|transcript|ENST00000314567|protein_coding|2/4|c.23G>C|p.Arg8Pro|447/1875|23/372|8/123||,G|missense_variant|MODERATE|CDPF1|ENSG00000205643|transcript|ENST00000404583|protein_coding|1/3|c.23G>C|p.Arg8Pro|24/1439|23/357|8/118||,G|missense_variant|MODERATE|CDPF1|ENSG00000205643|transcript|ENST00000404744|protein_coding|1/4|c.23G>C|p.Arg8Pro|24/1541|23/348|8/115||,G|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding||c.*1589C>G|||||4506|,G|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding||c.*1672C>G|||||4506|,G|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding||c.*1620C>G|||||4507|,G|intron_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000475605|processed_transcript|1/1|n.39+1994G>C||||||,G|intron_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000474256|processed_transcript|1/2|n.57-1041G>C||||||,G|non_coding_exon_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000381037|nonsense_mediated_decay|2/5|n.23G>C|||||| 22 46644168 . A G . . ANN=G|missense_variant|MODERATE|CDPF1|ENSG00000205643|transcript|ENST00000314567|protein_coding|2/4|c.14T>C|p.Val5Ala|438/1875|14/372|5/123||,G|missense_variant|MODERATE|CDPF1|ENSG00000205643|transcript|ENST00000404583|protein_coding|1/3|c.14T>C|p.Val5Ala|15/1439|14/357|5/118||,G|missense_variant|MODERATE|CDPF1|ENSG00000205643|transcript|ENST00000404744|protein_coding|1/4|c.14T>C|p.Val5Ala|15/1541|14/348|5/115||,G|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding||c.*1589A>G|||||4515|,G|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding||c.*1672A>G|||||4515|,G|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding||c.*1620A>G|||||4516|,G|intron_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000475605|processed_transcript|1/1|n.39+1985T>C||||||,G|intron_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000474256|processed_transcript|1/2|n.57-1050T>C||||||,G|non_coding_exon_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000381037|nonsense_mediated_decay|2/5|n.14T>C|||||| 22 46644177 . G A . . ANN=A|missense_variant|MODERATE|CDPF1|ENSG00000205643|transcript|ENST00000314567|protein_coding|2/4|c.5C>T|p.Ala2Val|429/1875|5/372|2/123||,A|missense_variant|MODERATE|CDPF1|ENSG00000205643|transcript|ENST00000404583|protein_coding|1/3|c.5C>T|p.Ala2Val|6/1439|5/357|2/118||,A|missense_variant|MODERATE|CDPF1|ENSG00000205643|transcript|ENST00000404744|protein_coding|1/4|c.5C>T|p.Ala2Val|6/1541|5/348|2/115||,A|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding||c.*1589G>A|||||4524|,A|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding||c.*1672G>A|||||4524|,A|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding||c.*1620G>A|||||4525|,A|intron_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000475605|processed_transcript|1/1|n.39+1976C>T||||||,A|intron_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000474256|processed_transcript|1/2|n.57-1059C>T||||||,A|non_coding_exon_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000381037|nonsense_mediated_decay|2/5|n.5C>T|||||| 22 46644178 . C T . . ANN=T|missense_variant|MODERATE|CDPF1|ENSG00000205643|transcript|ENST00000314567|protein_coding|2/4|c.4G>A|p.Ala2Thr|428/1875|4/372|2/123||,T|missense_variant|MODERATE|CDPF1|ENSG00000205643|transcript|ENST00000404583|protein_coding|1/3|c.4G>A|p.Ala2Thr|5/1439|4/357|2/118||,T|missense_variant|MODERATE|CDPF1|ENSG00000205643|transcript|ENST00000404744|protein_coding|1/4|c.4G>A|p.Ala2Thr|5/1541|4/348|2/115||,T|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding||c.*1589C>T|||||4525|,T|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding||c.*1672C>T|||||4525|,T|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding||c.*1620C>T|||||4526|,T|intron_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000475605|processed_transcript|1/1|n.39+1975G>A||||||,T|intron_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000474256|processed_transcript|1/2|n.57-1060G>A||||||,T|non_coding_exon_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000381037|nonsense_mediated_decay|2/5|n.4G>A|||||| 22 46644188 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|CDPF1|ENSG00000205643|transcript|ENST00000314567|protein_coding|1/3|c.1-7C>T||||||,A|splice_region_variant&intron_variant|LOW|CDPF1|ENSG00000205643|transcript|ENST00000381037|nonsense_mediated_decay|1/4|n.1-7C>T||||||,A|upstream_gene_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000404583|protein_coding||c.-2C>T|||||6|,A|upstream_gene_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000404744|protein_coding||c.-2C>T|||||6|,A|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding||c.*1589G>A|||||4535|,A|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding||c.*1672G>A|||||4535|,A|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding||c.*1620G>A|||||4536|,A|intron_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000475605|processed_transcript|1/1|n.39+1965C>T||||||,A|intron_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000474256|processed_transcript|1/2|n.57-1070C>T|||||| 22 46652420 . G C . . ANN=C|3_prime_UTR_variant|MODIFIER|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.*38C>G|||||38| 22 46652426 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.*32G>A|||||32| 22 46652427 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.*31C>T|||||31| 22 46652516 . T A . . ANN=A|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.6704A>T|p.Tyr2235Phe|6704/7660|6704/6762|2235/2253||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Cytoplasmic|ENST00000253255|protein_coding|1/1|c.6704A>T|||||| 22 46652736 . C T . . ANN=T|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.6484G>A|p.Val2162Ile|6484/7660|6484/6762|2162/2253||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|transmembrane_region:Transmembrane_region|ENST00000253255|protein_coding|1/1|c.6484G>A|||||| 22 46652737 . G A . . ANN=A|synonymous_variant|LOW|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.6483C>T|p.Cys2161Cys|6483/7660|6483/6762|2161/2253||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|transmembrane_region:Transmembrane_region|ENST00000253255|protein_coding|1/1|c.6483C>T|||||| 22 46652892 . C A . . ANN=A|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.6328G>T|p.Val2110Leu|6328/7660|6328/6762|2110/2253||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|transmembrane_region:Transmembrane_region|ENST00000253255|protein_coding|1/1|c.6328G>T|||||| 22 46652929 . G A . . ANN=A|synonymous_variant|LOW|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.6291C>T|p.Ser2097Ser|6291/7660|6291/6762|2097/2253||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|transmembrane_region:Transmembrane_region|ENST00000253255|protein_coding|1/1|c.6291C>T|||||| 22 46652959 . A G . . ANN=G|synonymous_variant|LOW|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.6261T>C|p.Pro2087Pro|6261/7660|6261/6762|2087/2253||,G|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Cytoplasmic|ENST00000253255|protein_coding|1/1|c.6261T>C|||||| 22 46652994 . G A . . ANN=A|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.6226C>T|p.Arg2076Cys|6226/7660|6226/6762|2076/2253||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Cytoplasmic|ENST00000253255|protein_coding|1/1|c.6226C>T|||||| 22 46653095 . G A,C . . ANN=A|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.6125C>T|p.Ala2042Val|6125/7660|6125/6762|2042/2253||,C|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.6125C>G|p.Ala2042Gly|6125/7660|6125/6762|2042/2253||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.6125C>T||||||,C|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.6125C>G|||||| 22 46653187 . C T . . ANN=T|synonymous_variant|LOW|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.6033G>A|p.Val2011Val|6033/7660|6033/6762|2011/2253||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|transmembrane_region:Transmembrane_region|ENST00000253255|protein_coding|1/1|c.6033G>A|||||| 22 46653398 . CCTAA C . . ANN=|frameshift_variant|HIGH|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.5818_5821delTTAG|p.Leu1940fs|5821/7660|5818/6762|1940/2253||,|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.5818_5821delTTAG||||||;LOF=(PKDREJ|ENSG00000130943|1|1.00) 22 46653532 . C T . . ANN=T|synonymous_variant|LOW|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.5688G>A|p.Leu1896Leu|5688/7660|5688/6762|1896/2253||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.5688G>A|||||| 22 46653548 . C T . . ANN=T|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.5672G>A|p.Arg1891Gln|5672/7660|5672/6762|1891/2253||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.5672G>A|||||| 22 46653661 . G T . . ANN=T|synonymous_variant|LOW|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.5559C>A|p.Thr1853Thr|5559/7660|5559/6762|1853/2253||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.5559C>A|||||| 22 46653685 . A C . . ANN=C|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.5535T>G|p.Asp1845Glu|5535/7660|5535/6762|1845/2253||,C|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.5535T>G|||||| 22 46653781 . C T . . ANN=T|synonymous_variant|LOW|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.5439G>A|p.Val1813Val|5439/7660|5439/6762|1813/2253||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.5439G>A|||||| 22 46653806 . A AT . . ANN=T|frameshift_variant|HIGH|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.5413dupA|p.Met1805fs|5413/7660|5413/6762|1805/2253||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.5413dupA||||||;LOF=(PKDREJ|ENSG00000130943|1|1.00) 22 46653865 . C T . . ANN=T|synonymous_variant|LOW|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.5355G>A|p.Ser1785Ser|5355/7660|5355/6762|1785/2253||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.5355G>A|||||| 22 46654035 . C T . . ANN=T|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.5185G>A|p.Val1729Ile|5185/7660|5185/6762|1729/2253||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|transmembrane_region:Transmembrane_region|ENST00000253255|protein_coding|1/1|c.5185G>A|||||| 22 46654081 . G T . . ANN=T|stop_gained|HIGH|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.5139C>A|p.Tyr1713*|5139/7660|5139/6762|1713/2253||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|transmembrane_region:Transmembrane_region|ENST00000253255|protein_coding|1/1|c.5139C>A|||||| 22 46654159 . T C . . ANN=C|synonymous_variant|LOW|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.5061A>G|p.Gln1687Gln|5061/7660|5061/6762|1687/2253||,C|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Cytoplasmic|ENST00000253255|protein_coding|1/1|c.5061A>G|||||| 22 46654188 . C T . . ANN=T|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.5032G>A|p.Val1678Ile|5032/7660|5032/6762|1678/2253||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Cytoplasmic|ENST00000253255|protein_coding|1/1|c.5032G>A|||||| 22 46654323 . G A . . ANN=A|synonymous_variant|LOW|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.4897C>T|p.Leu1633Leu|4897/7660|4897/6762|1633/2253||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Cytoplasmic|ENST00000253255|protein_coding|1/1|c.4897C>T|||||| 22 46654454 . C T . . ANN=T|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.4766G>A|p.Ser1589Asn|4766/7660|4766/6762|1589/2253||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|transmembrane_region:Transmembrane_region|ENST00000253255|protein_coding|1/1|c.4766G>A|||||| 22 46654515 . G A . . ANN=A|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.4705C>T|p.Arg1569Trp|4705/7660|4705/6762|1569/2253||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Cytoplasmic|ENST00000253255|protein_coding|1/1|c.4705C>T|||||| 22 46654554 . G C . . ANN=C|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.4666C>G|p.Pro1556Ala|4666/7660|4666/6762|1556/2253||,C|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Cytoplasmic|ENST00000253255|protein_coding|1/1|c.4666C>G|||||| 22 46654563 . C T . . ANN=T|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.4657G>A|p.Glu1553Lys|4657/7660|4657/6762|1553/2253||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Cytoplasmic|ENST00000253255|protein_coding|1/1|c.4657G>A|||||| 22 46654572 . C T . . ANN=T|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.4648G>A|p.Val1550Ile|4648/7660|4648/6762|1550/2253||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Cytoplasmic|ENST00000253255|protein_coding|1/1|c.4648G>A|||||| 22 46654598 . T C . . ANN=C|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.4622A>G|p.Asn1541Ser|4622/7660|4622/6762|1541/2253||,C|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Cytoplasmic|ENST00000253255|protein_coding|1/1|c.4622A>G|||||| 22 46654628 . G A . . ANN=A|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.4592C>T|p.Pro1531Leu|4592/7660|4592/6762|1531/2253||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Cytoplasmic|ENST00000253255|protein_coding|1/1|c.4592C>T|||||| 22 46654636 . G C . . ANN=C|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.4584C>G|p.Ile1528Met|4584/7660|4584/6762|1528/2253||,C|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Cytoplasmic|ENST00000253255|protein_coding|1/1|c.4584C>G|||||| 22 46654664 . G T . . ANN=T|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.4556C>A|p.Pro1519His|4556/7660|4556/6762|1519/2253||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Cytoplasmic|ENST00000253255|protein_coding|1/1|c.4556C>A|||||| 22 46654672 . G A . . ANN=A|synonymous_variant|LOW|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.4548C>T|p.Thr1516Thr|4548/7660|4548/6762|1516/2253||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Cytoplasmic|ENST00000253255|protein_coding|1/1|c.4548C>T|||||| 22 46654759 . G A . . ANN=A|synonymous_variant|LOW|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.4461C>T|p.Tyr1487Tyr|4461/7660|4461/6762|1487/2253||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Cytoplasmic|ENST00000253255|protein_coding|1/1|c.4461C>T|||||| 22 46654812 . T C . . ANN=C|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.4408A>G|p.Met1470Val|4408/7660|4408/6762|1470/2253||,C|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Cytoplasmic|ENST00000253255|protein_coding|1/1|c.4408A>G|||||| 22 46654850 . G A . . ANN=A|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.4370C>T|p.Ala1457Val|4370/7660|4370/6762|1457/2253||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Cytoplasmic|ENST00000253255|protein_coding|1/1|c.4370C>T|||||| 22 46655020 . A G . . ANN=G|synonymous_variant|LOW|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.4200T>C|p.Ser1400Ser|4200/7660|4200/6762|1400/2253||,G|sequence_feature|LOW|PKDREJ|ENSG00000130943|transmembrane_region:Transmembrane_region|ENST00000253255|protein_coding|1/1|c.4200T>C|||||| 22 46655108 . A G . . ANN=G|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.4112T>C|p.Met1371Thr|4112/7660|4112/6762|1371/2253||,G|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Cytoplasmic|ENST00000253255|protein_coding|1/1|c.4112T>C|||||| 22 46655303 . G A . . ANN=A|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.3917C>T|p.Ser1306Leu|3917/7660|3917/6762|1306/2253||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Cytoplasmic|ENST00000253255|protein_coding|1/1|c.3917C>T||||||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|domain:PLAT|ENST00000253255|protein_coding|1/1|c.3917C>T|||||| 22 46655313 . C T . . ANN=T|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.3907G>A|p.Glu1303Lys|3907/7660|3907/6762|1303/2253||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Cytoplasmic|ENST00000253255|protein_coding|1/1|c.3907G>A||||||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|domain:PLAT|ENST00000253255|protein_coding|1/1|c.3907G>A|||||| 22 46655344 . G A . . ANN=A|synonymous_variant|LOW|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.3876C>T|p.Asp1292Asp|3876/7660|3876/6762|1292/2253||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Cytoplasmic|ENST00000253255|protein_coding|1/1|c.3876C>T||||||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|domain:PLAT|ENST00000253255|protein_coding|1/1|c.3876C>T|||||| 22 46655347 . C T . . ANN=T|synonymous_variant|LOW|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.3873G>A|p.Gly1291Gly|3873/7660|3873/6762|1291/2253||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Cytoplasmic|ENST00000253255|protein_coding|1/1|c.3873G>A||||||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|domain:PLAT|ENST00000253255|protein_coding|1/1|c.3873G>A|||||| 22 46655365 . C T . . ANN=T|synonymous_variant|LOW|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.3855G>A|p.Thr1285Thr|3855/7660|3855/6762|1285/2253||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Cytoplasmic|ENST00000253255|protein_coding|1/1|c.3855G>A||||||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|domain:PLAT|ENST00000253255|protein_coding|1/1|c.3855G>A|||||| 22 46655374 . G A . . ANN=A|synonymous_variant|LOW|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.3846C>T|p.Phe1282Phe|3846/7660|3846/6762|1282/2253||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Cytoplasmic|ENST00000253255|protein_coding|1/1|c.3846C>T||||||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|domain:PLAT|ENST00000253255|protein_coding|1/1|c.3846C>T|||||| 22 46655391 . C T . . ANN=T|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.3829G>A|p.Gly1277Ser|3829/7660|3829/6762|1277/2253||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Cytoplasmic|ENST00000253255|protein_coding|1/1|c.3829G>A||||||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|domain:PLAT|ENST00000253255|protein_coding|1/1|c.3829G>A|||||| 22 46655434 . G A . . ANN=A|synonymous_variant|LOW|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.3786C>T|p.Asp1262Asp|3786/7660|3786/6762|1262/2253||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Cytoplasmic|ENST00000253255|protein_coding|1/1|c.3786C>T||||||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|domain:PLAT|ENST00000253255|protein_coding|1/1|c.3786C>T|||||| 22 46655653 . A G . . ANN=G|synonymous_variant|LOW|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.3567T>C|p.Thr1189Thr|3567/7660|3567/6762|1189/2253||,G|sequence_feature|LOW|PKDREJ|ENSG00000130943|transmembrane_region:Transmembrane_region|ENST00000253255|protein_coding|1/1|c.3567T>C|||||| 22 46655668 . G C . . ANN=C|synonymous_variant|LOW|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.3552C>G|p.Pro1184Pro|3552/7660|3552/6762|1184/2253||,C|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.3552C>G|||||| 22 46655770 . C G . . ANN=G|synonymous_variant|LOW|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.3450G>C|p.Thr1150Thr|3450/7660|3450/6762|1150/2253||,G|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.3450G>C|||||| 22 46655779 . G C . . ANN=C|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.3441C>G|p.Ile1147Met|3441/7660|3441/6762|1147/2253||,C|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.3441C>G|||||| 22 46655925 . T C . . ANN=C|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.3295A>G|p.Ile1099Val|3295/7660|3295/6762|1099/2253||,C|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.3295A>G|||||| 22 46655948 . T C . . ANN=C|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.3272A>G|p.Asn1091Ser|3272/7660|3272/6762|1091/2253||,C|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.3272A>G|||||| 22 46655966 . C T . . ANN=T|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.3254G>A|p.Arg1085His|3254/7660|3254/6762|1085/2253||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.3254G>A|||||| 22 46655969 . G C . . ANN=C|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.3251C>G|p.Pro1084Arg|3251/7660|3251/6762|1084/2253||,C|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.3251C>G|||||| 22 46656151 . C T . . ANN=T|synonymous_variant|LOW|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.3069G>A|p.Ala1023Ala|3069/7660|3069/6762|1023/2253||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.3069G>A|||||| 22 46656246 . T G . . ANN=G|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.2974A>C|p.Thr992Pro|2974/7660|2974/6762|992/2253||,G|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.2974A>C|||||| 22 46656275 . G C . . ANN=C|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.2945C>G|p.Thr982Arg|2945/7660|2945/6762|982/2253||,C|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.2945C>G|||||| 22 46656278 . G A . . ANN=A|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.2942C>T|p.Thr981Met|2942/7660|2942/6762|981/2253||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.2942C>T|||||| 22 46656304 . G A . . ANN=A|synonymous_variant|LOW|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.2916C>T|p.Ser972Ser|2916/7660|2916/6762|972/2253||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.2916C>T|||||| 22 46656323 . A G . . ANN=G|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.2897T>C|p.Leu966Pro|2897/7660|2897/6762|966/2253||,G|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.2897T>C|||||| 22 46656358 . A G . . ANN=G|synonymous_variant|LOW|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.2862T>C|p.Leu954Leu|2862/7660|2862/6762|954/2253||,G|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.2862T>C|||||| 22 46656371 . G A . . ANN=A|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.2849C>T|p.Ala950Val|2849/7660|2849/6762|950/2253||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.2849C>T|||||| 22 46656445 . C A . . ANN=A|synonymous_variant|LOW|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.2775G>T|p.Ser925Ser|2775/7660|2775/6762|925/2253||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.2775G>T|||||| 22 46656479 . A G . . ANN=G|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.2741T>C|p.Leu914Pro|2741/7660|2741/6762|914/2253||,G|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.2741T>C|||||| 22 46656511 . A G . . ANN=G|synonymous_variant|LOW|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.2709T>C|p.Ile903Ile|2709/7660|2709/6762|903/2253||,G|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.2709T>C||||||,G|sequence_feature|LOW|PKDREJ|ENSG00000130943|domain:REJ|ENST00000253255|protein_coding|1/1|c.2709T>C|||||| 22 46656562 . A G . . ANN=G|synonymous_variant|LOW|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.2658T>C|p.Tyr886Tyr|2658/7660|2658/6762|886/2253||,G|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.2658T>C||||||,G|sequence_feature|LOW|PKDREJ|ENSG00000130943|domain:REJ|ENST00000253255|protein_coding|1/1|c.2658T>C|||||| 22 46656571 . A G . . ANN=G|synonymous_variant|LOW|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.2649T>C|p.Asn883Asn|2649/7660|2649/6762|883/2253||,G|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.2649T>C||||||,G|sequence_feature|LOW|PKDREJ|ENSG00000130943|domain:REJ|ENST00000253255|protein_coding|1/1|c.2649T>C|||||| 22 46656607 . G A . . ANN=A|synonymous_variant|LOW|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.2613C>T|p.Ile871Ile|2613/7660|2613/6762|871/2253||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.2613C>T||||||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|domain:REJ|ENST00000253255|protein_coding|1/1|c.2613C>T|||||| 22 46656805 . G A . . ANN=A|synonymous_variant|LOW|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.2415C>T|p.Ile805Ile|2415/7660|2415/6762|805/2253||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.2415C>T||||||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|domain:REJ|ENST00000253255|protein_coding|1/1|c.2415C>T|||||| 22 46656812 . A G . . ANN=G|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.2408T>C|p.Ile803Thr|2408/7660|2408/6762|803/2253||,G|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.2408T>C||||||,G|sequence_feature|LOW|PKDREJ|ENSG00000130943|domain:REJ|ENST00000253255|protein_coding|1/1|c.2408T>C|||||| 22 46656831 . G A . . ANN=A|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.2389C>T|p.Arg797Cys|2389/7660|2389/6762|797/2253||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.2389C>T||||||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|domain:REJ|ENST00000253255|protein_coding|1/1|c.2389C>T|||||| 22 46656976 . A C . . ANN=C|synonymous_variant|LOW|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.2244T>G|p.Thr748Thr|2244/7660|2244/6762|748/2253||,C|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.2244T>G||||||,C|sequence_feature|LOW|PKDREJ|ENSG00000130943|domain:REJ|ENST00000253255|protein_coding|1/1|c.2244T>G|||||| 22 46657020 . G A . . ANN=A|stop_gained|HIGH|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.2200C>T|p.Arg734*|2200/7660|2200/6762|734/2253||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.2200C>T||||||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|domain:REJ|ENST00000253255|protein_coding|1/1|c.2200C>T|||||| 22 46657047 . G A . . ANN=A|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.2173C>T|p.Pro725Ser|2173/7660|2173/6762|725/2253||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.2173C>T||||||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|domain:REJ|ENST00000253255|protein_coding|1/1|c.2173C>T|||||| 22 46657090 . C T . . ANN=T|synonymous_variant|LOW|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.2130G>A|p.Leu710Leu|2130/7660|2130/6762|710/2253||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.2130G>A||||||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|domain:REJ|ENST00000253255|protein_coding|1/1|c.2130G>A|||||| 22 46657143 . A G . . ANN=G|synonymous_variant|LOW|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.2077T>C|p.Leu693Leu|2077/7660|2077/6762|693/2253||,G|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.2077T>C||||||,G|sequence_feature|LOW|PKDREJ|ENSG00000130943|domain:REJ|ENST00000253255|protein_coding|1/1|c.2077T>C|||||| 22 46657170 . GTAAC G . . ANN=|frameshift_variant|HIGH|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.2046_2049delGTTA|p.Gln682fs|2049/7660|2046/6762|682/2253||,|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.2046_2049delGTTA||||||,|sequence_feature|LOW|PKDREJ|ENSG00000130943|domain:REJ|ENST00000253255|protein_coding|1/1|c.2046_2049delGTTA||||||;LOF=(PKDREJ|ENSG00000130943|1|1.00) 22 46657261 . A G . . ANN=G|synonymous_variant|LOW|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.1959T>C|p.Asp653Asp|1959/7660|1959/6762|653/2253||,G|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.1959T>C||||||,G|sequence_feature|LOW|PKDREJ|ENSG00000130943|domain:REJ|ENST00000253255|protein_coding|1/1|c.1959T>C|||||| 22 46657308 . T C . . ANN=C|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.1912A>G|p.Met638Val|1912/7660|1912/6762|638/2253||,C|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.1912A>G||||||,C|sequence_feature|LOW|PKDREJ|ENSG00000130943|domain:REJ|ENST00000253255|protein_coding|1/1|c.1912A>G|||||| 22 46657447 . G T . . ANN=T|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.1773C>A|p.His591Gln|1773/7660|1773/6762|591/2253||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.1773C>A||||||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|domain:REJ|ENST00000253255|protein_coding|1/1|c.1773C>A|||||| 22 46657485 . T C . . ANN=C|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.1735A>G|p.Lys579Glu|1735/7660|1735/6762|579/2253||,C|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.1735A>G||||||,C|sequence_feature|LOW|PKDREJ|ENSG00000130943|domain:REJ|ENST00000253255|protein_coding|1/1|c.1735A>G|||||| 22 46657591 . A G . . ANN=G|synonymous_variant|LOW|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.1629T>C|p.Cys543Cys|1629/7660|1629/6762|543/2253||,G|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.1629T>C||||||,G|sequence_feature|LOW|PKDREJ|ENSG00000130943|domain:REJ|ENST00000253255|protein_coding|1/1|c.1629T>C|||||| 22 46657637 . C T . . ANN=T|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.1583G>A|p.Arg528Gln|1583/7660|1583/6762|528/2253||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.1583G>A||||||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|domain:REJ|ENST00000253255|protein_coding|1/1|c.1583G>A|||||| 22 46657713 . T C . . ANN=C|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.1507A>G|p.Met503Val|1507/7660|1507/6762|503/2253||,C|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.1507A>G||||||,C|sequence_feature|LOW|PKDREJ|ENSG00000130943|domain:REJ|ENST00000253255|protein_coding|1/1|c.1507A>G|||||| 22 46657768 . A G . . ANN=G|synonymous_variant|LOW|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.1452T>C|p.Asn484Asn|1452/7660|1452/6762|484/2253||,G|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.1452T>C||||||,G|sequence_feature|LOW|PKDREJ|ENSG00000130943|domain:REJ|ENST00000253255|protein_coding|1/1|c.1452T>C|||||| 22 46657798 . A G . . ANN=G|synonymous_variant|LOW|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.1422T>C|p.Asp474Asp|1422/7660|1422/6762|474/2253||,G|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.1422T>C||||||,G|sequence_feature|LOW|PKDREJ|ENSG00000130943|domain:REJ|ENST00000253255|protein_coding|1/1|c.1422T>C|||||| 22 46657881 . T C . . ANN=C|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.1339A>G|p.Arg447Gly|1339/7660|1339/6762|447/2253||,C|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.1339A>G||||||,C|sequence_feature|LOW|PKDREJ|ENSG00000130943|domain:REJ|ENST00000253255|protein_coding|1/1|c.1339A>G|||||| 22 46658059 . A C . . ANN=C|synonymous_variant|LOW|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.1161T>G|p.Gly387Gly|1161/7660|1161/6762|387/2253||,C|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.1161T>G||||||,C|sequence_feature|LOW|PKDREJ|ENSG00000130943|domain:REJ|ENST00000253255|protein_coding|1/1|c.1161T>G|||||| 22 46658122 . C T . . ANN=T|synonymous_variant|LOW|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.1098G>A|p.Ala366Ala|1098/7660|1098/6762|366/2253||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.1098G>A||||||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|domain:REJ|ENST00000253255|protein_coding|1/1|c.1098G>A|||||| 22 46658204 . A G . . ANN=G|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.1016T>C|p.Val339Ala|1016/7660|1016/6762|339/2253||,G|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.1016T>C||||||,G|sequence_feature|LOW|PKDREJ|ENSG00000130943|domain:REJ|ENST00000253255|protein_coding|1/1|c.1016T>C|||||| 22 46658399 . G A . . ANN=A|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.821C>T|p.Thr274Met|821/7660|821/6762|274/2253||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.821C>T||||||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|domain:REJ|ENST00000253255|protein_coding|1/1|c.821C>T|||||| 22 46658461 . G T . . ANN=T|synonymous_variant|LOW|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.759C>A|p.Arg253Arg|759/7660|759/6762|253/2253||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.759C>A||||||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|domain:REJ|ENST00000253255|protein_coding|1/1|c.759C>A|||||| 22 46658491 . G C . . ANN=C|synonymous_variant|LOW|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.729C>G|p.Ala243Ala|729/7660|729/6762|243/2253||,C|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.729C>G||||||,C|sequence_feature|LOW|PKDREJ|ENSG00000130943|domain:REJ|ENST00000253255|protein_coding|1/1|c.729C>G|||||| 22 46658515 . C T . . ANN=T|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.705G>A|p.Met235Ile|705/7660|705/6762|235/2253||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.705G>A||||||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|domain:REJ|ENST00000253255|protein_coding|1/1|c.705G>A|||||| 22 46658619 . G T . . ANN=T|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.601C>A|p.His201Asn|601/7660|601/6762|201/2253||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.601C>A|||||| 22 46658719 . G A . . ANN=A|synonymous_variant|LOW|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.501C>T|p.Ala167Ala|501/7660|501/6762|167/2253||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.501C>T|||||| 22 46658725 . G C . . ANN=C|synonymous_variant|LOW|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.495C>G|p.Arg165Arg|495/7660|495/6762|165/2253||,C|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.495C>G|||||| 22 46658747 . G A . . ANN=A|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.473C>T|p.Pro158Leu|473/7660|473/6762|158/2253||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.473C>T|||||| 22 46658926 . G A . . ANN=A|synonymous_variant|LOW|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.294C>T|p.Ser98Ser|294/7660|294/6762|98/2253||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.294C>T||||||,A|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding||c.-77G>A|||||4935|,A|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000417709|nonsense_mediated_decay||n.-80G>A|||||4932|,A|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding||c.-57G>A|||||4955|,A|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000475467|retained_intron||n.-1G>A|||||4979|,A|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000421359|protein_coding||c.-33G>A|||||4979|WARNING_TRANSCRIPT_NO_STOP_CODON 22 46658978 . T C . . ANN=C|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.242A>G|p.His81Arg|242/7660|242/6762|81/2253||,C|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.242A>G||||||,C|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding||c.-77T>C|||||4883|,C|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000417709|nonsense_mediated_decay||n.-80T>C|||||4880|,C|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding||c.-57T>C|||||4903|,C|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000475467|retained_intron||n.-1T>C|||||4927|,C|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000421359|protein_coding||c.-33T>C|||||4927|WARNING_TRANSCRIPT_NO_STOP_CODON 22 46659143 . A G . . ANN=G|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.77T>C|p.Val26Ala|77/7660|77/6762|26/2253||,G|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.77T>C||||||,G|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding||c.-77A>G|||||4718|,G|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000417709|nonsense_mediated_decay||n.-80A>G|||||4715|,G|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding||c.-57A>G|||||4738|,G|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000475467|retained_intron||n.-1A>G|||||4762|,G|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000421359|protein_coding||c.-33A>G|||||4762|WARNING_TRANSCRIPT_NO_STOP_CODON 22 46659186 . C A . . ANN=A|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.34G>T|p.Val12Leu|34/7660|34/6762|12/2253||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|signal_peptide|ENST00000253255|protein_coding|1/1|c.34G>T||||||,A|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding||c.-77C>A|||||4675|,A|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000417709|nonsense_mediated_decay||n.-80C>A|||||4672|,A|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding||c.-57C>A|||||4695|,A|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000475467|retained_intron||n.-1C>A|||||4719|,A|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000421359|protein_coding||c.-33C>A|||||4719|WARNING_TRANSCRIPT_NO_STOP_CODON 22 46663887 . A C . . ANN=C|5_prime_UTR_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|1/14|c.-50A>C|||||50|,C|5_prime_UTR_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000417709|nonsense_mediated_decay|1/6|n.-50A>C|||||50|,C|5_prime_UTR_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|1/13|c.-50A>C|||||50|,C|upstream_gene_variant|MODIFIER|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding||c.-1T>G|||||4668|,C|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000475467|retained_intron||n.-1A>C|||||18|,C|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000421359|protein_coding||c.-33A>C|||||18|WARNING_TRANSCRIPT_NO_STOP_CODON,C|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000422713|nonsense_mediated_decay||n.-3A>C|||||4382|,C|non_coding_exon_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000417709|nonsense_mediated_decay|1/6|n.-50A>C|||||| 22 46663917 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|1/14|c.-20G>A|||||20|,A|5_prime_UTR_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000417709|nonsense_mediated_decay|1/6|n.-20G>A|||||20|,A|5_prime_UTR_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|1/13|c.-20G>A|||||20|,A|5_prime_UTR_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000421359|protein_coding|1/7|c.-20G>A|||||20|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding||c.-1C>T|||||4698|,A|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000422713|nonsense_mediated_decay||n.-3G>A|||||4352|,A|non_coding_exon_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000417709|nonsense_mediated_decay|1/6|n.-20G>A||||||,A|non_coding_exon_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000475467|retained_intron|1/2|n.13G>A|||||| 22 46664409 . A G . . ANN=G|splice_acceptor_variant&intron_variant|HIGH|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|1/13|c.34-2A>G||||||,G|splice_acceptor_variant&intron_variant|HIGH|TTC38|ENSG00000075234|transcript|ENST00000417709|nonsense_mediated_decay|1/5|n.34-2A>G||||||,G|splice_acceptor_variant&intron_variant|HIGH|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|1/12|c.34-2A>G||||||,G|splice_acceptor_variant&intron_variant|HIGH|TTC38|ENSG00000075234|transcript|ENST00000475467|retained_intron|1/1|n.66-2A>G||||||,G|splice_acceptor_variant&intron_variant|HIGH|TTC38|ENSG00000075234|transcript|ENST00000421359|protein_coding|1/6|c.34-2A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000422713|nonsense_mediated_decay||n.-3A>G|||||3860|;LOF=(TTC38|ENSG00000075234|7|0.43) 22 46664412 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|2/14|c.35C>T|p.Ala12Val|111/2610|35/1410|12/469||,T|missense_variant&splice_region_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|2/13|c.35C>T|p.Ala12Val|91/1388|35/1236|12/411||,T|missense_variant&splice_region_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000421359|protein_coding|2/7|c.35C>T|p.Ala12Val|67/821|35/789|12/262||WARNING_TRANSCRIPT_NO_STOP_CODON,T|splice_region_variant&non_coding_exon_variant|LOW|TTC38|ENSG00000075234|transcript|ENST00000417709|nonsense_mediated_decay|2/6|n.35C>T||||||,T|splice_region_variant&non_coding_exon_variant|LOW|TTC38|ENSG00000075234|transcript|ENST00000475467|retained_intron|2/2|n.67C>T||||||,T|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000422713|nonsense_mediated_decay||n.-3C>T|||||3857| 22 46664431 . C G . . ANN=G|synonymous_variant|LOW|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|2/14|c.54C>G|p.Leu18Leu|130/2610|54/1410|18/469||,G|synonymous_variant|LOW|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|2/13|c.54C>G|p.Leu18Leu|110/1388|54/1236|18/411||,G|synonymous_variant|LOW|TTC38|ENSG00000075234|transcript|ENST00000421359|protein_coding|2/7|c.54C>G|p.Leu18Leu|86/821|54/789|18/262||WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000422713|nonsense_mediated_decay||n.-3C>G|||||3838|,G|non_coding_exon_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000417709|nonsense_mediated_decay|2/6|n.54C>G||||||,G|non_coding_exon_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000475467|retained_intron|2/2|n.86C>G|||||| 22 46668352 . A G . . ANN=G|downstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000475467|retained_intron||n.*479A>G|||||3528|,G|intron_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|3/13|c.193+39A>G||||||,G|intron_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000417709|nonsense_mediated_decay|4/5|n.*179+39A>G||||||,G|intron_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|3/12|c.193+39A>G||||||,G|intron_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000421359|protein_coding|3/6|c.193+39A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000422713|nonsense_mediated_decay|1/6|n.43+39A>G|||||| 22 46669887 . A G . . ANN=G|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|4/14|c.286A>G|p.Met96Val|362/2610|286/1410|96/469||,G|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|4/13|c.286A>G|p.Met96Val|342/1388|286/1236|96/411||,G|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000421359|protein_coding|4/7|c.286A>G|p.Met96Val|318/821|286/789|96/262||WARNING_TRANSCRIPT_NO_STOP_CODON,G|3_prime_UTR_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000417709|nonsense_mediated_decay|5/6|n.*272A>G|||||4798|,G|non_coding_exon_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000417709|nonsense_mediated_decay|5/6|n.*272A>G||||||,G|non_coding_exon_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000422713|nonsense_mediated_decay|2/7|n.136A>G|||||| 22 46669913 . G T . . ANN=T|synonymous_variant|LOW|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|4/14|c.312G>T|p.Pro104Pro|388/2610|312/1410|104/469||,T|synonymous_variant|LOW|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|4/13|c.312G>T|p.Pro104Pro|368/1388|312/1236|104/411||,T|synonymous_variant|LOW|TTC38|ENSG00000075234|transcript|ENST00000421359|protein_coding|4/7|c.312G>T|p.Pro104Pro|344/821|312/789|104/262||WARNING_TRANSCRIPT_NO_STOP_CODON,T|3_prime_UTR_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000417709|nonsense_mediated_decay|5/6|n.*298G>T|||||4824|,T|non_coding_exon_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000417709|nonsense_mediated_decay|5/6|n.*298G>T||||||,T|non_coding_exon_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000422713|nonsense_mediated_decay|2/7|n.162G>T|||||| 22 46669946 . A G . . ANN=G|synonymous_variant|LOW|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|4/14|c.345A>G|p.Ala115Ala|421/2610|345/1410|115/469||,G|synonymous_variant|LOW|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|4/13|c.345A>G|p.Ala115Ala|401/1388|345/1236|115/411||,G|synonymous_variant|LOW|TTC38|ENSG00000075234|transcript|ENST00000421359|protein_coding|4/7|c.345A>G|p.Ala115Ala|377/821|345/789|115/262||WARNING_TRANSCRIPT_NO_STOP_CODON,G|sequence_feature|LOW|TTC38|ENSG00000075234|repeat:TPR_1|ENST00000381031|protein_coding|5/14|c.345A>G||||||,G|sequence_feature|LOW|TTC38|ENSG00000075234|repeat:TPR_1|ENST00000381031|protein_coding|4/14|c.345A>G||||||,G|3_prime_UTR_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000417709|nonsense_mediated_decay|5/6|n.*331A>G|||||4857|,G|non_coding_exon_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000417709|nonsense_mediated_decay|5/6|n.*331A>G||||||,G|non_coding_exon_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000422713|nonsense_mediated_decay|2/7|n.195A>G|||||| 22 46671154 . G A . . ANN=A|synonymous_variant|LOW|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|5/14|c.375G>A|p.Pro125Pro|451/2610|375/1410|125/469||,A|synonymous_variant|LOW|TTC38|ENSG00000075234|transcript|ENST00000421359|protein_coding|5/7|c.375G>A|p.Pro125Pro|407/821|375/789|125/262||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|TTC38|ENSG00000075234|repeat:TPR_1|ENST00000381031|protein_coding|5/14|c.375G>A||||||,A|sequence_feature|LOW|TTC38|ENSG00000075234|repeat:TPR_1|ENST00000381031|protein_coding|4/14|c.375G>A||||||,A|3_prime_UTR_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000417709|nonsense_mediated_decay|6/6|n.*361G>A|||||6065|,A|intron_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|4/12|c.365+1188G>A||||||,A|non_coding_exon_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000417709|nonsense_mediated_decay|6/6|n.*361G>A||||||,A|non_coding_exon_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000422713|nonsense_mediated_decay|3/7|n.225G>A|||||| 22 46671196 . G A . . ANN=A|synonymous_variant|LOW|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|5/14|c.417G>A|p.Pro139Pro|493/2610|417/1410|139/469||,A|synonymous_variant|LOW|TTC38|ENSG00000075234|transcript|ENST00000421359|protein_coding|5/7|c.417G>A|p.Pro139Pro|449/821|417/789|139/262||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|TTC38|ENSG00000075234|repeat:TPR_1|ENST00000381031|protein_coding|5/14|c.417G>A||||||,A|sequence_feature|LOW|TTC38|ENSG00000075234|repeat:TPR_1|ENST00000381031|protein_coding|4/14|c.417G>A||||||,A|downstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000417709|nonsense_mediated_decay||n.*241G>A|||||14|,A|intron_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|4/12|c.365+1230G>A||||||,A|non_coding_exon_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000422713|nonsense_mediated_decay|3/7|n.267G>A|||||| 22 46671241 . C T . . ANN=T|synonymous_variant|LOW|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|5/14|c.462C>T|p.Tyr154Tyr|538/2610|462/1410|154/469||,T|synonymous_variant|LOW|TTC38|ENSG00000075234|transcript|ENST00000421359|protein_coding|5/7|c.462C>T|p.Tyr154Tyr|494/821|462/789|154/262||WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000417709|nonsense_mediated_decay||n.*241C>T|||||59|,T|intron_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|4/12|c.365+1275C>T||||||,T|non_coding_exon_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000422713|nonsense_mediated_decay|3/7|n.312C>T|||||| 22 46674516 . G A . . ANN=A|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|6/14|c.573G>A|p.Met191Ile|649/2610|573/1410|191/469||,A|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|5/13|c.399G>A|p.Met133Ile|455/1388|399/1236|133/411||,A|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000421359|protein_coding|6/7|c.573G>A|p.Met191Ile|605/821|573/789|191/262||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|TTC38|ENSG00000075234|repeat:TPR_2|ENST00000381031|protein_coding|6/14|c.573G>A||||||,A|sequence_feature|LOW|TTC38|ENSG00000075234|repeat:TPR_2|ENST00000381031|protein_coding|5/14|c.573G>A||||||,A|sequence_feature|LOW|TTC38|ENSG00000075234|repeat:TPR_2|ENST00000381031|protein_coding|7/14|c.573G>A||||||,A|downstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000417709|nonsense_mediated_decay||n.*241G>A|||||3334|,A|non_coding_exon_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000422713|nonsense_mediated_decay|4/7|n.423G>A|||||| 22 46674554 . A G . . ANN=G|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|6/14|c.611A>G|p.Lys204Arg|687/2610|611/1410|204/469||,G|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|5/13|c.437A>G|p.Lys146Arg|493/1388|437/1236|146/411||,G|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000421359|protein_coding|6/7|c.611A>G|p.Lys204Arg|643/821|611/789|204/262||WARNING_TRANSCRIPT_NO_STOP_CODON,G|sequence_feature|LOW|TTC38|ENSG00000075234|repeat:TPR_2|ENST00000381031|protein_coding|6/14|c.611A>G||||||,G|sequence_feature|LOW|TTC38|ENSG00000075234|repeat:TPR_2|ENST00000381031|protein_coding|5/14|c.611A>G||||||,G|sequence_feature|LOW|TTC38|ENSG00000075234|repeat:TPR_2|ENST00000381031|protein_coding|7/14|c.611A>G||||||,G|downstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000417709|nonsense_mediated_decay||n.*241A>G|||||3372|,G|non_coding_exon_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000422713|nonsense_mediated_decay|4/7|n.461A>G|||||| 22 46674564 . T G . . ANN=G|splice_region_variant&intron_variant|LOW|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|6/13|c.615+6T>G||||||,G|splice_region_variant&intron_variant|LOW|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|5/12|c.441+6T>G||||||,G|splice_region_variant&intron_variant|LOW|TTC38|ENSG00000075234|transcript|ENST00000421359|protein_coding|6/6|c.615+6T>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|splice_region_variant&intron_variant|LOW|TTC38|ENSG00000075234|transcript|ENST00000422713|nonsense_mediated_decay|4/6|n.465+6T>G||||||,G|sequence_feature|LOW|TTC38|ENSG00000075234|repeat:TPR_2|ENST00000381031|protein_coding|6/14|c.615+6T>G||||||,G|sequence_feature|LOW|TTC38|ENSG00000075234|repeat:TPR_2|ENST00000381031|protein_coding|5/14|c.615+6T>G||||||,G|sequence_feature|LOW|TTC38|ENSG00000075234|repeat:TPR_2|ENST00000381031|protein_coding|7/14|c.615+6T>G||||||,G|downstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000417709|nonsense_mediated_decay||n.*241T>G|||||3382| 22 46674603 . C T . . ANN=T|sequence_feature|LOW|TTC38|ENSG00000075234|repeat:TPR_2|ENST00000381031|protein_coding|6/14|c.615+45C>T||||||,T|sequence_feature|LOW|TTC38|ENSG00000075234|repeat:TPR_2|ENST00000381031|protein_coding|5/14|c.615+45C>T||||||,T|sequence_feature|LOW|TTC38|ENSG00000075234|repeat:TPR_2|ENST00000381031|protein_coding|7/14|c.615+45C>T||||||,T|downstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000417709|nonsense_mediated_decay||n.*241C>T|||||3421|,T|intron_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|6/13|c.615+45C>T||||||,T|intron_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|5/12|c.441+45C>T||||||,T|intron_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000421359|protein_coding|6/6|c.615+45C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000422713|nonsense_mediated_decay|4/6|n.465+45C>T|||||| 22 46677483 . G A . . ANN=A|sequence_feature|LOW|TTC38|ENSG00000075234|repeat:TPR_2|ENST00000381031|protein_coding|6/14|c.616-13G>A||||||,A|sequence_feature|LOW|TTC38|ENSG00000075234|repeat:TPR_2|ENST00000381031|protein_coding|5/14|c.616-13G>A||||||,A|sequence_feature|LOW|TTC38|ENSG00000075234|repeat:TPR_2|ENST00000381031|protein_coding|7/14|c.616-13G>A||||||,A|downstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000421359|protein_coding||c.*821G>A|||||1344|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|6/13|c.616-13G>A||||||,A|intron_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|5/12|c.442-13G>A||||||,A|intron_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000422713|nonsense_mediated_decay|4/6|n.466-13G>A|||||| 22 46677553 . G A . . ANN=A|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|7/14|c.673G>A|p.Glu225Lys|749/2610|673/1410|225/469||,A|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|6/13|c.499G>A|p.Glu167Lys|555/1388|499/1236|167/411||,A|downstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000421359|protein_coding||c.*821G>A|||||1414|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000422713|nonsense_mediated_decay|5/7|n.523G>A|||||| 22 46677573 . G A . . ANN=A|synonymous_variant|LOW|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|7/14|c.693G>A|p.Lys231Lys|769/2610|693/1410|231/469||,A|synonymous_variant|LOW|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|6/13|c.519G>A|p.Lys173Lys|575/1388|519/1236|173/411||,A|downstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000421359|protein_coding||c.*821G>A|||||1434|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000422713|nonsense_mediated_decay|5/7|n.543G>A|||||| 22 46677605 . C A . . ANN=A|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|7/14|c.725C>A|p.Thr242Asn|801/2610|725/1410|242/469||,A|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|6/13|c.551C>A|p.Thr184Asn|607/1388|551/1236|184/411||,A|downstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000421359|protein_coding||c.*821C>A|||||1466|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000422713|nonsense_mediated_decay|5/7|n.575C>A|||||| 22 46677607 . T C . . ANN=C|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|7/14|c.727T>C|p.Phe243Leu|803/2610|727/1410|243/469||,C|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|6/13|c.553T>C|p.Phe185Leu|609/1388|553/1236|185/411||,C|downstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000421359|protein_coding||c.*821T>C|||||1468|WARNING_TRANSCRIPT_NO_STOP_CODON,C|non_coding_exon_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000422713|nonsense_mediated_decay|5/7|n.577T>C|||||| 22 46679838 . T C . . ANN=C|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000451998|nonsense_mediated_decay||n.-3T>C|||||4569|,C|downstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000421359|protein_coding||c.*821T>C|||||3699|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|7/13|c.736-32T>C||||||,C|intron_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|6/12|c.562-32T>C||||||,C|intron_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000422713|nonsense_mediated_decay|6/6|n.*140-32T>C|||||| 22 46679848 . C CT . . ANN=T|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000451998|nonsense_mediated_decay||n.-3_-3insT|||||4558|,T|downstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000421359|protein_coding||c.*821_*821insT|||||3710|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|7/13|c.736-21dupT||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|6/12|c.562-21dupT||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000422713|nonsense_mediated_decay|6/6|n.*140-21dupT||||||INFO_REALIGN_3_PRIME 22 46679849 . TC T . . ANN=|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000451998|nonsense_mediated_decay||n.-3delC|||||4557|,|downstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000421359|protein_coding||c.*821delC|||||3711|WARNING_TRANSCRIPT_NO_STOP_CODON,|intron_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|7/13|c.736-20delC||||||,|intron_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|6/12|c.562-20delC||||||,|intron_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000422713|nonsense_mediated_decay|6/6|n.*140-20delC|||||| 22 46679972 . G A . . ANN=A|sequence_feature|LOW|TTC38|ENSG00000075234|repeat:TPR_3|ENST00000381031|protein_coding|10/14|c.795+43G>A||||||,A|sequence_feature|LOW|TTC38|ENSG00000075234|repeat:TPR_3|ENST00000381031|protein_coding|9/14|c.795+43G>A||||||,A|sequence_feature|LOW|TTC38|ENSG00000075234|repeat:TPR_3|ENST00000381031|protein_coding|8/14|c.795+43G>A||||||,A|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000451998|nonsense_mediated_decay||n.-3G>A|||||4435|,A|downstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000421359|protein_coding||c.*821G>A|||||3833|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000422713|nonsense_mediated_decay||n.*629G>A|||||43|,A|intron_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|8/13|c.795+43G>A||||||,A|intron_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|7/12|c.621+43G>A|||||| 22 46681141 . G A . . ANN=A|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|9/14|c.799G>A|p.Glu267Lys|875/2610|799/1410|267/469||,A|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|8/13|c.625G>A|p.Glu209Lys|681/1388|625/1236|209/411||,A|sequence_feature|LOW|TTC38|ENSG00000075234|repeat:TPR_3|ENST00000381031|protein_coding|10/14|c.799G>A||||||,A|sequence_feature|LOW|TTC38|ENSG00000075234|repeat:TPR_3|ENST00000381031|protein_coding|9/14|c.799G>A||||||,A|sequence_feature|LOW|TTC38|ENSG00000075234|repeat:TPR_3|ENST00000381031|protein_coding|8/14|c.799G>A||||||,A|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000451998|nonsense_mediated_decay||n.-3G>A|||||3266|,A|downstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000422713|nonsense_mediated_decay||n.*629G>A|||||1212| 22 46681153 . G A . . ANN=A|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|9/14|c.811G>A|p.Ala271Thr|887/2610|811/1410|271/469||,A|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|8/13|c.637G>A|p.Ala213Thr|693/1388|637/1236|213/411||,A|sequence_feature|LOW|TTC38|ENSG00000075234|repeat:TPR_3|ENST00000381031|protein_coding|10/14|c.811G>A||||||,A|sequence_feature|LOW|TTC38|ENSG00000075234|repeat:TPR_3|ENST00000381031|protein_coding|9/14|c.811G>A||||||,A|sequence_feature|LOW|TTC38|ENSG00000075234|repeat:TPR_3|ENST00000381031|protein_coding|8/14|c.811G>A||||||,A|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000451998|nonsense_mediated_decay||n.-3G>A|||||3254|,A|downstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000422713|nonsense_mediated_decay||n.*629G>A|||||1224| 22 46681173 . C G . . ANN=G|synonymous_variant|LOW|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|9/14|c.831C>G|p.Thr277Thr|907/2610|831/1410|277/469||,G|synonymous_variant|LOW|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|8/13|c.657C>G|p.Thr219Thr|713/1388|657/1236|219/411||,G|sequence_feature|LOW|TTC38|ENSG00000075234|repeat:TPR_3|ENST00000381031|protein_coding|10/14|c.831C>G||||||,G|sequence_feature|LOW|TTC38|ENSG00000075234|repeat:TPR_3|ENST00000381031|protein_coding|9/14|c.831C>G||||||,G|sequence_feature|LOW|TTC38|ENSG00000075234|repeat:TPR_3|ENST00000381031|protein_coding|8/14|c.831C>G||||||,G|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000451998|nonsense_mediated_decay||n.-3C>G|||||3234|,G|downstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000422713|nonsense_mediated_decay||n.*629C>G|||||1244| 22 46682946 . C T . . ANN=T|sequence_feature|LOW|TTC38|ENSG00000075234|repeat:TPR_3|ENST00000381031|protein_coding|10/14|c.835-24C>T||||||,T|sequence_feature|LOW|TTC38|ENSG00000075234|repeat:TPR_3|ENST00000381031|protein_coding|9/14|c.835-24C>T||||||,T|sequence_feature|LOW|TTC38|ENSG00000075234|repeat:TPR_3|ENST00000381031|protein_coding|8/14|c.835-24C>T||||||,T|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000451998|nonsense_mediated_decay||n.-3C>T|||||1461|,T|downstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000422713|nonsense_mediated_decay||n.*629C>T|||||3017|,T|intron_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|9/13|c.835-24C>T||||||,T|intron_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|8/12|c.661-24C>T|||||| 22 46682955 . C T . . ANN=T|sequence_feature|LOW|TTC38|ENSG00000075234|repeat:TPR_3|ENST00000381031|protein_coding|10/14|c.835-15C>T||||||,T|sequence_feature|LOW|TTC38|ENSG00000075234|repeat:TPR_3|ENST00000381031|protein_coding|9/14|c.835-15C>T||||||,T|sequence_feature|LOW|TTC38|ENSG00000075234|repeat:TPR_3|ENST00000381031|protein_coding|8/14|c.835-15C>T||||||,T|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000451998|nonsense_mediated_decay||n.-3C>T|||||1452|,T|downstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000422713|nonsense_mediated_decay||n.*629C>T|||||3026|,T|intron_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|9/13|c.835-15C>T||||||,T|intron_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|8/12|c.661-15C>T|||||| 22 46682976 . C T . . ANN=T|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|10/14|c.841C>T|p.Pro281Ser|917/2610|841/1410|281/469||,T|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|9/13|c.667C>T|p.Pro223Ser|723/1388|667/1236|223/411||,T|sequence_feature|LOW|TTC38|ENSG00000075234|repeat:TPR_3|ENST00000381031|protein_coding|10/14|c.841C>T||||||,T|sequence_feature|LOW|TTC38|ENSG00000075234|repeat:TPR_3|ENST00000381031|protein_coding|9/14|c.841C>T||||||,T|sequence_feature|LOW|TTC38|ENSG00000075234|repeat:TPR_3|ENST00000381031|protein_coding|8/14|c.841C>T||||||,T|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000451998|nonsense_mediated_decay||n.-3C>T|||||1431|,T|downstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000422713|nonsense_mediated_decay||n.*629C>T|||||3047| 22 46682993 . C T . . ANN=T|synonymous_variant|LOW|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|10/14|c.858C>T|p.Asn286Asn|934/2610|858/1410|286/469||,T|synonymous_variant|LOW|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|9/13|c.684C>T|p.Asn228Asn|740/1388|684/1236|228/411||,T|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000451998|nonsense_mediated_decay||n.-3C>T|||||1414|,T|downstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000422713|nonsense_mediated_decay||n.*629C>T|||||3064| 22 46682995 . A G . . ANN=G|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|10/14|c.860A>G|p.Asp287Gly|936/2610|860/1410|287/469||,G|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|9/13|c.686A>G|p.Asp229Gly|742/1388|686/1236|229/411||,G|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000451998|nonsense_mediated_decay||n.-3A>G|||||1412|,G|downstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000422713|nonsense_mediated_decay||n.*629A>G|||||3066| 22 46683008 . C T . . ANN=T|synonymous_variant|LOW|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|10/14|c.873C>T|p.Asp291Asp|949/2610|873/1410|291/469||,T|synonymous_variant|LOW|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|9/13|c.699C>T|p.Asp233Asp|755/1388|699/1236|233/411||,T|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000451998|nonsense_mediated_decay||n.-3C>T|||||1399|,T|downstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000422713|nonsense_mediated_decay||n.*629C>T|||||3079| 22 46684364 . C T . . ANN=T|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|11/14|c.961C>T|p.Arg321Trp|1037/2610|961/1410|321/469||,T|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|10/13|c.787C>T|p.Arg263Trp|843/1388|787/1236|263/411||,T|TF_binding_site_variant|LOW|||Gabp|MA0062.2|||||||||,T|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000451998|nonsense_mediated_decay||n.-3C>T|||||43|,T|downstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000422713|nonsense_mediated_decay||n.*629C>T|||||4435| 22 46684451 . CAG C . . ANN=|frameshift_variant|HIGH|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|11/14|c.1049_1050delAG|p.Gln350fs|1125/2610|1049/1410|350/469||,|frameshift_variant|HIGH|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|10/13|c.875_876delAG|p.Gln292fs|931/1388|875/1236|292/411||,|downstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000422713|nonsense_mediated_decay||n.*629_*629delAG|||||4523|,|non_coding_exon_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000451998|nonsense_mediated_decay|1/5|n.44_45delAG||||||;LOF=(TTC38|ENSG00000075234|7|0.29) 22 46684506 . G A . . ANN=A|downstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000422713|nonsense_mediated_decay||n.*629G>A|||||4577|,A|intron_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|11/13|c.1082+21G>A||||||,A|intron_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|10/12|c.908+21G>A||||||,A|intron_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000451998|nonsense_mediated_decay|1/4|n.77+21G>A|||||| 22 46684528 . C T . . ANN=T|downstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000422713|nonsense_mediated_decay||n.*629C>T|||||4599|,T|intron_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|11/13|c.1082+43C>T||||||,T|intron_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|10/12|c.908+43C>T||||||,T|intron_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000451998|nonsense_mediated_decay|1/4|n.77+43C>T|||||| 22 46685249 . G A . . ANN=A|intron_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|11/13|c.1083-50G>A||||||,A|intron_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|10/12|c.909-50G>A||||||,A|intron_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000451998|nonsense_mediated_decay|1/4|n.78-50G>A|||||| 22 46685274 . T C . . ANN=C|intron_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|11/13|c.1083-25T>C||||||,C|intron_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|10/12|c.909-25T>C||||||,C|intron_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000451998|nonsense_mediated_decay|1/4|n.78-25T>C|||||| 22 46685284 . G A . . ANN=A|intron_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|11/13|c.1083-15G>A||||||,A|intron_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|10/12|c.909-15G>A||||||,A|intron_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000451998|nonsense_mediated_decay|1/4|n.78-15G>A|||||| 22 46685316 . G A . . ANN=A|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|12/14|c.1100G>A|p.Cys367Tyr|1176/2610|1100/1410|367/469||,A|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|11/13|c.926G>A|p.Cys309Tyr|982/1388|926/1236|309/411||,A|non_coding_exon_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000451998|nonsense_mediated_decay|2/5|n.95G>A|||||| 22 46685375 . G A . . ANN=A|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|12/14|c.1159G>A|p.Glu387Lys|1235/2610|1159/1410|387/469||,A|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|11/13|c.985G>A|p.Glu329Lys|1041/1388|985/1236|329/411||,A|non_coding_exon_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000451998|nonsense_mediated_decay|2/5|n.154G>A|||||| 22 46685380 . C T . . ANN=T|synonymous_variant|LOW|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|12/14|c.1164C>T|p.Asp388Asp|1240/2610|1164/1410|388/469||,T|synonymous_variant|LOW|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|11/13|c.990C>T|p.Asp330Asp|1046/1388|990/1236|330/411||,T|non_coding_exon_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000451998|nonsense_mediated_decay|2/5|n.159C>T|||||| 22 46685401 . G A . . ANN=A|synonymous_variant|LOW|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|12/14|c.1185G>A|p.Leu395Leu|1261/2610|1185/1410|395/469||,A|synonymous_variant|LOW|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|11/13|c.1011G>A|p.Leu337Leu|1067/1388|1011/1236|337/411||,A|non_coding_exon_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000451998|nonsense_mediated_decay|2/5|n.180G>A|||||| 22 46685426 . C T . . ANN=T|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|12/14|c.1210C>T|p.Arg404Trp|1286/2610|1210/1410|404/469||,T|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|11/13|c.1036C>T|p.Arg346Trp|1092/1388|1036/1236|346/411||,T|non_coding_exon_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000451998|nonsense_mediated_decay|2/5|n.205C>T|||||| 22 46685432 . G A . . ANN=A|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|12/14|c.1216G>A|p.Val406Ile|1292/2610|1216/1410|406/469||,A|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|11/13|c.1042G>A|p.Val348Ile|1098/1388|1042/1236|348/411||,A|non_coding_exon_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000451998|nonsense_mediated_decay|2/5|n.211G>A|||||| 22 46685711 . T G . . ANN=G|intron_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|12/13|c.1243-12T>G||||||,G|intron_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|11/12|c.1069-12T>G||||||,G|intron_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000451998|nonsense_mediated_decay|2/4|n.238-12T>G|||||| 22 46685754 . C T . . ANN=T|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|13/14|c.1274C>T|p.Ala425Val|1350/2610|1274/1410|425/469||,T|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|12/13|c.1100C>T|p.Ala367Val|1156/1388|1100/1236|367/411||,T|non_coding_exon_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000451998|nonsense_mediated_decay|3/5|n.269C>T|||||| 22 46688736 . C T . . ANN=T|synonymous_variant|LOW|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|14/14|c.1365C>T|p.Thr455Thr|1441/2610|1365/1410|455/469||,T|synonymous_variant|LOW|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|13/13|c.1191C>T|p.Thr397Thr|1247/1388|1191/1236|397/411||,T|3_prime_UTR_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000451998|nonsense_mediated_decay|5/5|n.*129C>T|||||591|,T|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding||c.-213C>T|||||3902|,T|non_coding_exon_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000451998|nonsense_mediated_decay|5/5|n.*129C>T|||||| 22 46693312 . C T . . ANN=T|synonymous_variant|LOW|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|2/12|c.15C>T|p.Gly5Gly|227/3112|15/2220|5/739||,T|downstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding||c.*1486C>T|||||3407|,T|downstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding||c.*1292C>T|||||4435|,T|downstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000451998|nonsense_mediated_decay||n.*359C>T|||||4482| 22 46693319 . G T . . ANN=T|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|2/12|c.22G>T|p.Asp8Tyr|234/3112|22/2220|8/739||,T|downstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding||c.*1486G>T|||||3414|,T|downstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding||c.*1292G>T|||||4442|,T|downstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000451998|nonsense_mediated_decay||n.*359G>T|||||4489| 22 46693375 . A G . . ANN=G|splice_region_variant&synonymous_variant|LOW|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|2/12|c.78A>G|p.Glu26Glu|290/3112|78/2220|26/739||,G|downstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding||c.*1486A>G|||||3470|,G|downstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding||c.*1292A>G|||||4498|,G|downstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000451998|nonsense_mediated_decay||n.*359A>G|||||4545| 22 46704013 . G A . . ANN=A|intron_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|2/11|c.80-34G>A|||||| 22 46704039 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|2/11|c.80-8C>T|||||| 22 46704243 . C T . . ANN=T|synonymous_variant|LOW|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|4/12|c.165C>T|p.Phe55Phe|377/3112|165/2220|55/739|| 22 46704244 . G A . . ANN=A|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|4/12|c.166G>A|p.Gly56Arg|378/3112|166/2220|56/739|| 22 46704372 . C T . . ANN=T|synonymous_variant|LOW|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|4/12|c.294C>T|p.Phe98Phe|506/3112|294/2220|98/739|| 22 46704390 . A G . . ANN=G|synonymous_variant|LOW|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|4/12|c.312A>G|p.Glu104Glu|524/3112|312/2220|104/739|| 22 46704500 . C A . . ANN=A|stop_gained|HIGH|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|4/12|c.422C>A|p.Ser141*|634/3112|422/2220|141/739||;LOF=(GTSE1|ENSG00000075218|4|0.25);NMD=(GTSE1|ENSG00000075218|4|0.25) 22 46704555 . G A . . ANN=A|synonymous_variant|LOW|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|4/12|c.477G>A|p.Thr159Thr|689/3112|477/2220|159/739|| 22 46704580 . C T . . ANN=T|synonymous_variant|LOW|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|4/12|c.502C>T|p.Leu168Leu|714/3112|502/2220|168/739|| 22 46704610 . G T . . ANN=T|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|4/12|c.532G>T|p.Val178Leu|744/3112|532/2220|178/739|| 22 46704622 . C T . . ANN=T|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|4/12|c.544C>T|p.Arg182Trp|756/3112|544/2220|182/739|| 22 46704627 . C G . . ANN=G|synonymous_variant|LOW|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|4/12|c.549C>G|p.Leu183Leu|761/3112|549/2220|183/739|| 22 46704676 . A G . . ANN=G|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|4/12|c.598A>G|p.Thr200Ala|810/3112|598/2220|200/739|| 22 46704684 . G A . . ANN=A|synonymous_variant|LOW|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|4/12|c.606G>A|p.Ala202Ala|818/3112|606/2220|202/739|| 22 46704687 . G A . . ANN=A|synonymous_variant|LOW|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|4/12|c.609G>A|p.Pro203Pro|821/3112|609/2220|203/739|| 22 46704690 . G A . . ANN=A|synonymous_variant|LOW|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|4/12|c.612G>A|p.Gly204Gly|824/3112|612/2220|204/739|| 22 46704734 . C T . . ANN=T|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|4/12|c.656C>T|p.Ala219Val|868/3112|656/2220|219/739|| 22 46704771 . C T . . ANN=T|synonymous_variant|LOW|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|4/12|c.693C>T|p.Pro231Pro|905/3112|693/2220|231/739|| 22 46704874 . C G . . ANN=G|intron_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|4/11|c.762+34C>G|||||| 22 46708152 . G A . . ANN=A|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|5/12|c.877G>A|p.Ala293Thr|1089/3112|877/2220|293/739||,A|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron||n.-1G>A|||||3782|,A|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron||n.-1G>A|||||3782| 22 46708155 . G A . . ANN=A|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|5/12|c.880G>A|p.Gly294Arg|1092/3112|880/2220|294/739||,A|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron||n.-1G>A|||||3779|,A|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron||n.-1G>A|||||3779| 22 46708180 . G A . . ANN=A|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|5/12|c.905G>A|p.Arg302Gln|1117/3112|905/2220|302/739||,A|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron||n.-1G>A|||||3754|,A|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron||n.-1G>A|||||3754| 22 46709827 . C T . . ANN=T|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|6/12|c.968C>T|p.Thr323Ile|1180/3112|968/2220|323/739||,T|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron||n.-1C>T|||||2107|,T|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron||n.-1C>T|||||2107| 22 46709881 . G A . . ANN=A|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|6/12|c.1022G>A|p.Ser341Asn|1234/3112|1022/2220|341/739||,A|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron||n.-1G>A|||||2053|,A|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron||n.-1G>A|||||2053| 22 46711880 . T C . . ANN=C|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron||n.-1T>C|||||54|,C|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron||n.-1T>C|||||54|,C|intron_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|6/11|c.1052-49T>C|||||| 22 46711920 . A AC . . ANN=C|splice_region_variant&intron_variant|LOW|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|6/11|c.1052-7dupC||||||INFO_REALIGN_3_PRIME,C|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron||n.-1_-1insC|||||13|,C|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron||n.-1_-1insC|||||13| 22 46712021 . C T . . ANN=T|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|7/12|c.1144C>T|p.Arg382Trp|1356/3112|1144/2220|382/739||,T|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron|1/3|n.88C>T||||||,T|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron|1/4|n.88C>T|||||| 22 46712077 . C T . . ANN=T|synonymous_variant|LOW|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|7/12|c.1200C>T|p.Val400Val|1412/3112|1200/2220|400/739||,T|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron|1/3|n.144C>T||||||,T|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron|1/4|n.144C>T|||||| 22 46712149 . G A . . ANN=A|synonymous_variant|LOW|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|7/12|c.1272G>A|p.Pro424Pro|1484/3112|1272/2220|424/739||,A|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron|1/3|n.216G>A||||||,A|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron|1/4|n.216G>A|||||| 22 46712216 . A G . . ANN=G|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|7/12|c.1339A>G|p.Arg447Gly|1551/3112|1339/2220|447/739||,G|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron|1/3|n.283A>G||||||,G|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron|1/4|n.283A>G|||||| 22 46712229 . G A . . ANN=A|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|7/12|c.1352G>A|p.Arg451Gln|1564/3112|1352/2220|451/739||,A|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron|1/3|n.296G>A||||||,A|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron|1/4|n.296G>A|||||| 22 46712332 . T C . . ANN=C|intron_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|7/11|c.1432+23T>C||||||,C|intron_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron|1/2|n.376+23T>C||||||,C|intron_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron|1/3|n.376+23T>C|||||| 22 46719054 . T C . . ANN=C|intron_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|7/11|c.1433-33T>C||||||,C|intron_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron|1/2|n.377-33T>C||||||,C|intron_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron|1/3|n.377-33T>C|||||| 22 46719100 . C G . . ANN=G|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|8/12|c.1446C>G|p.Asp482Glu|1658/3112|1446/2220|482/739||,G|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron|2/3|n.390C>G||||||,G|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron|2/4|n.390C>G|||||| 22 46719120 . C T . . ANN=T|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|8/12|c.1466C>T|p.Ser489Leu|1678/3112|1466/2220|489/739||,T|TF_binding_site_variant|LOW|||E2F1|MA0024.1|||||||||,T|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron|2/3|n.410C>T||||||,T|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron|2/4|n.410C>T|||||| 22 46719141 . C T . . ANN=T|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|8/12|c.1487C>T|p.Ser496Leu|1699/3112|1487/2220|496/739||,T|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron|2/3|n.431C>T||||||,T|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron|2/4|n.431C>T|||||| 22 46719171 . T C . . ANN=C|intron_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|8/11|c.1505+12T>C||||||,C|intron_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron|2/2|n.449+12T>C||||||,C|intron_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron|2/3|n.449+12T>C|||||| 22 46719177 . G A . . ANN=A|intron_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|8/11|c.1505+18G>A||||||,A|intron_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron|2/2|n.449+18G>A||||||,A|intron_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron|2/3|n.449+18G>A|||||| 22 46719185 . T C . . ANN=C|intron_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|8/11|c.1505+26T>C||||||,C|intron_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron|2/2|n.449+26T>C||||||,C|intron_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron|2/3|n.449+26T>C|||||| 22 46722362 . G A . . ANN=A|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|9/12|c.1535G>A|p.Arg512His|1747/3112|1535/2220|512/739||,A|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000491863|retained_intron||n.-1G>A|||||2458|,A|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.-1G>A|||||4410|,A|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.-1G>A|||||4982|,A|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron|3/3|n.479G>A||||||,A|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron|3/4|n.479G>A|||||| 22 46722397 . G A . . ANN=A|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|9/12|c.1570G>A|p.Ala524Thr|1782/3112|1570/2220|524/739||,A|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000491863|retained_intron||n.-1G>A|||||2423|,A|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.-1G>A|||||4375|,A|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.-1G>A|||||4947|,A|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron|3/3|n.514G>A||||||,A|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron|3/4|n.514G>A|||||| 22 46722400 . T C . . ANN=C|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|9/12|c.1573T>C|p.Trp525Arg|1785/3112|1573/2220|525/739||,C|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000491863|retained_intron||n.-1T>C|||||2420|,C|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.-1T>C|||||4372|,C|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.-1T>C|||||4944|,C|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron|3/3|n.517T>C||||||,C|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron|3/4|n.517T>C|||||| 22 46722401 . G A . . ANN=A|stop_gained|HIGH|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|9/12|c.1574G>A|p.Trp525*|1786/3112|1574/2220|525/739||,A|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000491863|retained_intron||n.-1G>A|||||2419|,A|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.-1G>A|||||4371|,A|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.-1G>A|||||4943|,A|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron|3/3|n.518G>A||||||,A|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron|3/4|n.518G>A||||||;LOF=(GTSE1|ENSG00000075218|4|0.25);NMD=(GTSE1|ENSG00000075218|4|0.25) 22 46722419 . C T . . ANN=T|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|9/12|c.1592C>T|p.Pro531Leu|1804/3112|1592/2220|531/739||,T|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000491863|retained_intron||n.-1C>T|||||2401|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.-1C>T|||||4353|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.-1C>T|||||4925|,T|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron|3/3|n.536C>T||||||,T|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron|3/4|n.536C>T|||||| 22 46722426 . C T . . ANN=T|synonymous_variant|LOW|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|9/12|c.1599C>T|p.Pro533Pro|1811/3112|1599/2220|533/739||,T|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000491863|retained_intron||n.-1C>T|||||2394|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.-1C>T|||||4346|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.-1C>T|||||4918|,T|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron|3/3|n.543C>T||||||,T|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron|3/4|n.543C>T|||||| 22 46722436 . C T . . ANN=T|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|9/12|c.1609C>T|p.Arg537Cys|1821/3112|1609/2220|537/739||,T|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000491863|retained_intron||n.-1C>T|||||2384|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.-1C>T|||||4336|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.-1C>T|||||4908|,T|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron|3/3|n.553C>T||||||,T|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron|3/4|n.553C>T|||||| 22 46722517 . C T . . ANN=T|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|9/12|c.1690C>T|p.Arg564Cys|1902/3112|1690/2220|564/739||,T|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000491863|retained_intron||n.-1C>T|||||2303|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.-1C>T|||||4255|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.-1C>T|||||4827|,T|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron|3/3|n.634C>T||||||,T|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron|3/4|n.634C>T|||||| 22 46722531 . C T . . ANN=T|synonymous_variant|LOW|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|9/12|c.1704C>T|p.Pro568Pro|1916/3112|1704/2220|568/739||,T|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000491863|retained_intron||n.-1C>T|||||2289|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.-1C>T|||||4241|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.-1C>T|||||4813|,T|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron|3/3|n.648C>T||||||,T|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron|3/4|n.648C>T|||||| 22 46722560 . C T . . ANN=T|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000491863|retained_intron||n.-1C>T|||||2260|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.-1C>T|||||4212|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.-1C>T|||||4784|,T|intron_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|9/11|c.1724+9C>T||||||,T|intron_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron|3/3|n.668+9C>T||||||,T|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron|3/3|n.677C>T|||||| 22 46724553 . C G . . ANN=G|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000491863|retained_intron||n.-1C>G|||||267|,G|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.-1C>G|||||2219|,G|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.-1C>G|||||2791|,G|downstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron||n.*1330C>G|||||1340|,G|intron_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|9/11|c.1725-32C>G||||||,G|intron_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron|3/3|n.669-32C>G|||||| 22 46724558 . T C . . ANN=C|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000491863|retained_intron||n.-1T>C|||||262|,C|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.-1T>C|||||2214|,C|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.-1T>C|||||2786|,C|downstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron||n.*1330T>C|||||1345|,C|intron_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|9/11|c.1725-27T>C||||||,C|intron_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron|3/3|n.669-27T>C|||||| 22 46724579 . C G . . ANN=G|splice_region_variant&intron_variant|LOW|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|9/11|c.1725-6C>G||||||,G|splice_region_variant&intron_variant|LOW|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron|3/3|n.669-6C>G||||||,G|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000491863|retained_intron||n.-1C>G|||||241|,G|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.-1C>G|||||2193|,G|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.-1C>G|||||2765|,G|downstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron||n.*1330C>G|||||1366| 22 46724650 . G C . . ANN=C|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|10/12|c.1790G>C|p.Arg597Thr|2002/3112|1790/2220|597/739||,C|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000491863|retained_intron||n.-1G>C|||||170|,C|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.-1G>C|||||2122|,C|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.-1G>C|||||2694|,C|downstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron||n.*1330G>C|||||1437|,C|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron|4/4|n.734G>C|||||| 22 46724703 . A T . . ANN=T|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|10/12|c.1843A>T|p.Ser615Cys|2055/3112|1843/2220|615/739||,T|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000491863|retained_intron||n.-1A>T|||||117|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.-1A>T|||||2069|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.-1A>T|||||2641|,T|downstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron||n.*1330A>T|||||1490|,T|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron|4/4|n.787A>T|||||| 22 46724729 . T A . . ANN=A|synonymous_variant|LOW|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|10/12|c.1869T>A|p.Thr623Thr|2081/3112|1869/2220|623/739||,A|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000491863|retained_intron||n.-1T>A|||||91|,A|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.-1T>A|||||2043|,A|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.-1T>A|||||2615|,A|downstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron||n.*1330T>A|||||1516|,A|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron|4/4|n.813T>A|||||| 22 46724731 . C G . . ANN=G|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|10/12|c.1871C>G|p.Ala624Gly|2083/3112|1871/2220|624/739||,G|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000491863|retained_intron||n.-1C>G|||||89|,G|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.-1C>G|||||2041|,G|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.-1C>G|||||2613|,G|downstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron||n.*1330C>G|||||1518|,G|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron|4/4|n.815C>G|||||| 22 46724746 . G A . . ANN=A|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|10/12|c.1886G>A|p.Arg629Gln|2098/3112|1886/2220|629/739||,A|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000491863|retained_intron||n.-1G>A|||||74|,A|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.-1G>A|||||2026|,A|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.-1G>A|||||2598|,A|downstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron||n.*1330G>A|||||1533|,A|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron|4/4|n.830G>A|||||| 22 46724762 . G C . . ANN=C|synonymous_variant|LOW|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|10/12|c.1902G>C|p.Pro634Pro|2114/3112|1902/2220|634/739||,C|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000491863|retained_intron||n.-1G>C|||||58|,C|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.-1G>C|||||2010|,C|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.-1G>C|||||2582|,C|downstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron||n.*1330G>C|||||1549|,C|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron|4/4|n.846G>C|||||| 22 46724769 . G C . . ANN=C|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|10/12|c.1909G>C|p.Asp637His|2121/3112|1909/2220|637/739||,C|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000491863|retained_intron||n.-1G>C|||||51|,C|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.-1G>C|||||2003|,C|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.-1G>C|||||2575|,C|downstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron||n.*1330G>C|||||1556|,C|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron|4/4|n.853G>C|||||| 22 46724798 . G A . . ANN=A|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000491863|retained_intron||n.-1G>A|||||22|,A|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.-1G>A|||||1974|,A|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.-1G>A|||||2546|,A|downstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron||n.*1330G>A|||||1585|,A|intron_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|10/11|c.1926+12G>A||||||,A|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron|4/4|n.882G>A|||||| 22 46724801 . C T . . ANN=T|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000491863|retained_intron||n.-1C>T|||||19|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.-1C>T|||||1971|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.-1C>T|||||2543|,T|downstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron||n.*1330C>T|||||1588|,T|intron_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|10/11|c.1926+15C>T||||||,T|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron|4/4|n.885C>T|||||| 22 46725288 . G A . . ANN=A|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|11/12|c.1960G>A|p.Ala654Thr|2172/3112|1960/2220|654/739||,A|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.-1G>A|||||1484|,A|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.-1G>A|||||2056|,A|downstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron||n.*1330G>A|||||2075|,A|downstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron||n.*1111G>A|||||261|,A|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000491863|retained_intron|1/2|n.469G>A|||||| 22 46725316 . C G . . ANN=G|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|11/12|c.1988C>G|p.Pro663Arg|2200/3112|1988/2220|663/739||,G|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.-1C>G|||||1456|,G|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.-1C>G|||||2028|,G|downstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron||n.*1330C>G|||||2103|,G|downstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron||n.*1111C>G|||||289|,G|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000491863|retained_intron|1/2|n.497C>G|||||| 22 46725350 . T C . . ANN=C|synonymous_variant|LOW|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|11/12|c.2022T>C|p.Asp674Asp|2234/3112|2022/2220|674/739||,C|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.-1T>C|||||1422|,C|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.-1T>C|||||1994|,C|downstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron||n.*1330T>C|||||2137|,C|downstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron||n.*1111T>C|||||323|,C|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000491863|retained_intron|1/2|n.531T>C|||||| 22 46725365 . C T . . ANN=T|synonymous_variant|LOW|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|11/12|c.2037C>T|p.His679His|2249/3112|2037/2220|679/739||,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.-1C>T|||||1407|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.-1C>T|||||1979|,T|downstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron||n.*1330C>T|||||2152|,T|downstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron||n.*1111C>T|||||338|,T|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000491863|retained_intron|1/2|n.546C>T|||||| 22 46725913 . C T . . ANN=T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.-1C>T|||||859|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.-1C>T|||||1431|,T|downstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron||n.*1330C>T|||||2700|,T|downstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron||n.*1111C>T|||||886|,T|intron_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|11/11|c.2137-31C>T||||||,T|intron_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000491863|retained_intron|1/1|n.646-31C>T|||||| 22 46725974 . C G . . ANN=G|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|12/12|c.2167C>G|p.Leu723Val|2379/3112|2167/2220|723/739||,G|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.-1C>G|||||798|,G|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.-1C>G|||||1370|,G|downstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron||n.*1330C>G|||||2761|,G|downstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron||n.*1111C>G|||||947|,G|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000491863|retained_intron|2/2|n.676C>G|||||| 22 46725985 . G A . . ANN=A|synonymous_variant|LOW|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|12/12|c.2178G>A|p.Glu726Glu|2390/3112|2178/2220|726/739||,A|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.-1G>A|||||787|,A|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.-1G>A|||||1359|,A|downstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron||n.*1330G>A|||||2772|,A|downstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron||n.*1111G>A|||||958|,A|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000491863|retained_intron|2/2|n.687G>A|||||| 22 46731618 . G A . . ANN=A|TF_binding_site_variant|LOW|||Gabp|MA0062.2|||||||||,A|5_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|1/11|c.-44G>A|||||44|,A|5_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|1/10|n.-44G>A|||||44|,A|5_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|1/10|n.-44G>A|||||44|,A|5_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|1/10|n.-44G>A|||||44|,A|5_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|1/9|n.-44G>A|||||44|,A|5_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|1/11|n.-44G>A|||||44|,A|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding||c.-21G>A|||||24|,A|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000465378|processed_transcript||n.-1G>A|||||172|,A|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000496831|processed_transcript||n.-1G>A|||||174|,A|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding||c.-209G>A|||||201|,A|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript||n.-1G>A|||||237|,A|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000493556|processed_transcript||n.-1G>A|||||669|,A|downstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding||c.*2432G>A|||||4911|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.*1476G>A|||||2022|,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript|1/5|n.287-2058G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|1/10|n.-44G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|1/10|n.-44G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|1/10|n.-44G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|1/9|n.-44G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|1/11|n.-44G>A|||||| 22 46731670 . C G . . ANN=G|synonymous_variant|LOW|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|1/11|c.9C>G|p.Ala3Ala|349/1940|9/1266|3/421||,G|synonymous_variant|LOW|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|1/10|c.9C>G|p.Ala3Ala|29/1381|9/1131|3/376||,G|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000465378|processed_transcript||n.-1C>G|||||120|,G|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000496831|processed_transcript||n.-1C>G|||||122|,G|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding||c.-209C>G|||||149|,G|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript||n.-1C>G|||||185|,G|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000493556|processed_transcript||n.-1C>G|||||617|,G|downstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding||c.*2432C>G|||||4963|,G|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.*1476C>G|||||2074|,G|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript|1/5|n.287-2006C>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|1/10|n.9C>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|1/10|n.9C>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|1/10|n.9C>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|1/9|n.9C>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|1/11|n.9C>G|||||| 22 46731671 . T G . . ANN=G|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|1/11|c.10T>G|p.Leu4Val|350/1940|10/1266|4/421||,G|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|1/10|c.10T>G|p.Leu4Val|30/1381|10/1131|4/376||,G|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000465378|processed_transcript||n.-1T>G|||||119|,G|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000496831|processed_transcript||n.-1T>G|||||121|,G|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding||c.-209T>G|||||148|,G|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript||n.-1T>G|||||184|,G|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000493556|processed_transcript||n.-1T>G|||||616|,G|downstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding||c.*2432T>G|||||4964|,G|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.*1476T>G|||||2075|,G|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript|1/5|n.287-2005T>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|1/10|n.10T>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|1/10|n.10T>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|1/10|n.10T>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|1/9|n.10T>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|1/11|n.10T>G|||||| 22 46731689 . G T . . ANN=T|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|1/11|c.28G>T|p.Ala10Ser|368/1940|28/1266|10/421||,T|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|1/10|c.28G>T|p.Ala10Ser|48/1381|28/1131|10/376||,T|sequence_feature|LOW|TRMU|ENSG00000100416|nucleotide_phosphate-binding_region:ATP|ENST00000290846|protein_coding|1/11|c.28G>T||||||,T|sequence_feature|LOW|TRMU|ENSG00000100416|nucleotide_phosphate-binding_region:ATP|ENST00000381019|protein_coding|1/10|c.28G>T||||||,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000465378|processed_transcript||n.-1G>T|||||101|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000496831|processed_transcript||n.-1G>T|||||103|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding||c.-209G>T|||||130|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript||n.-1G>T|||||166|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000493556|processed_transcript||n.-1G>T|||||598|,T|downstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding||c.*2432G>T|||||4982|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.*1476G>T|||||2093|,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript|1/5|n.287-1987G>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|1/10|n.28G>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|1/10|n.28G>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|1/10|n.28G>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|1/9|n.28G>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|1/11|n.28G>T|||||| 22 46731736 . G T . . ANN=T|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|1/11|c.75G>T|p.Arg25Ser|415/1940|75/1266|25/421||,T|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|1/10|c.75G>T|p.Arg25Ser|95/1381|75/1131|25/376||,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000465378|processed_transcript||n.-1G>T|||||54|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000496831|processed_transcript||n.-1G>T|||||56|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding||c.-209G>T|||||83|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript||n.-1G>T|||||119|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000493556|processed_transcript||n.-1G>T|||||551|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.*1476G>T|||||2140|,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript|1/5|n.287-1940G>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|1/10|n.75G>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|1/10|n.75G>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|1/10|n.75G>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|1/9|n.75G>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|1/11|n.75G>T|||||| 22 46731769 . C G . . ANN=G|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000465378|processed_transcript||n.-1C>G|||||21|,G|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000496831|processed_transcript||n.-1C>G|||||23|,G|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding||c.-209C>G|||||50|,G|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript||n.-1C>G|||||86|,G|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000493556|processed_transcript||n.-1C>G|||||518|,G|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.*1476C>G|||||2173|,G|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|1/10|c.82+26C>G||||||,G|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript|1/5|n.287-1907C>G||||||,G|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|1/9|n.82+26C>G||||||,G|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|1/9|n.82+26C>G||||||,G|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|1/9|n.82+26C>G||||||,G|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|1/8|n.82+26C>G||||||,G|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|1/10|n.82+26C>G||||||,G|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|1/9|c.82+26C>G|||||| 22 46731770 . CG C . . ANN=|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000465378|processed_transcript||n.-1delG|||||19|,|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000496831|processed_transcript||n.-1delG|||||21|,|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding||c.-209delG|||||48|,|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript||n.-1delG|||||84|,|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000493556|processed_transcript||n.-1delG|||||516|,|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.*1476delG|||||2175|,|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|1/10|c.82+28delG||||||,|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript|1/5|n.287-1905delG||||||,|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|1/9|n.82+28delG||||||,|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|1/9|n.82+28delG||||||,|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|1/9|n.82+28delG||||||,|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|1/8|n.82+28delG||||||,|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|1/10|n.82+28delG||||||,|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|1/9|c.82+28delG|||||| 22 46731771 . G C . . ANN=C|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000465378|processed_transcript||n.-1G>C|||||19|,C|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000496831|processed_transcript||n.-1G>C|||||21|,C|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding||c.-209G>C|||||48|,C|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript||n.-1G>C|||||84|,C|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000493556|processed_transcript||n.-1G>C|||||516|,C|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.*1476G>C|||||2175|,C|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|1/10|c.82+28G>C||||||,C|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript|1/5|n.287-1905G>C||||||,C|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|1/9|n.82+28G>C||||||,C|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|1/9|n.82+28G>C||||||,C|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|1/9|n.82+28G>C||||||,C|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|1/8|n.82+28G>C||||||,C|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|1/10|n.82+28G>C||||||,C|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|1/9|c.82+28G>C|||||| 22 46731791 . G A . . ANN=A|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000496831|processed_transcript||n.-1G>A|||||1|,A|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding||c.-209G>A|||||28|,A|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript||n.-1G>A|||||64|,A|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000493556|processed_transcript||n.-1G>A|||||496|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.*1476G>A|||||2195|,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|1/10|c.82+48G>A||||||,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript|1/5|n.287-1885G>A||||||,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|1/9|n.82+48G>A||||||,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|1/9|n.82+48G>A||||||,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|1/9|n.82+48G>A||||||,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|1/8|n.82+48G>A||||||,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|1/10|n.82+48G>A||||||,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|1/9|c.82+48G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000465378|processed_transcript|1/4|n.2G>A|||||| 22 46733657 . T C . . ANN=C|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.*1476T>C|||||4061|,C|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|1/10|c.83-19T>C||||||,C|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript|1/5|n.287-19T>C||||||,C|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|1/9|n.83-19T>C||||||,C|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|1/9|n.83-19T>C||||||,C|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|1/9|n.83-19T>C||||||,C|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|1/8|n.83-19T>C||||||,C|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|1/10|n.83-19T>C||||||,C|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|1/9|c.83-19T>C||||||,C|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000465378|processed_transcript|1/3|n.215-19T>C||||||,C|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000496831|processed_transcript|1/3|n.213-19T>C||||||,C|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding|1/6|c.-23-19T>C||||||,C|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript|1/5|n.150-19T>C||||||,C|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000493556|processed_transcript|1/1|n.278-19T>C|||||| 22 46733831 . G A . . ANN=A|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|2/11|c.238G>A|p.Asp80Asn|578/1940|238/1266|80/421||,A|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|2/10|c.238G>A|p.Asp80Asn|258/1381|238/1131|80/376||,A|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding|2/7|c.133G>A|p.Asp45Asn|341/1401|133/396|45/131||,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.*1476G>A|||||4235|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000493556|processed_transcript||n.*432G>A|||||1|,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript|2/6|n.442G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|2/10|n.238G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|2/10|n.238G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|2/10|n.238G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|2/9|n.238G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|2/11|n.238G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000465378|processed_transcript|2/4|n.370G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000496831|processed_transcript|2/4|n.368G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript|2/6|n.305G>A|||||| 22 46733853 . TCACAGCA T . . ANN=|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.*1476_*1476delCACAGCA|||||4258|,|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000493556|processed_transcript||n.*432_*432delCACAGCA|||||24|,|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|2/10|c.248+15_248+21delCAGCACA||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript|2/5|n.452+15_452+21delCAGCACA||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|2/9|n.248+15_248+21delCAGCACA||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|2/9|n.248+15_248+21delCAGCACA||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|2/9|n.248+15_248+21delCAGCACA||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|2/8|n.248+15_248+21delCAGCACA||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|2/10|n.248+15_248+21delCAGCACA||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|2/9|c.248+15_248+21delCAGCACA||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000465378|processed_transcript|2/3|n.380+15_380+21delCAGCACA||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000496831|processed_transcript|2/3|n.378+15_378+21delCAGCACA||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding|2/6|c.143+15_143+21delCAGCACA||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript|2/5|n.315+15_315+21delCAGCACA||||||INFO_REALIGN_3_PRIME 22 46733888 . C G . . ANN=G|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.*1476C>G|||||4292|,G|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000493556|processed_transcript||n.*432C>G|||||58|,G|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|2/10|c.248+47C>G||||||,G|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript|2/5|n.452+47C>G||||||,G|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|2/9|n.248+47C>G||||||,G|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|2/9|n.248+47C>G||||||,G|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|2/9|n.248+47C>G||||||,G|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|2/8|n.248+47C>G||||||,G|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|2/10|n.248+47C>G||||||,G|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|2/9|c.248+47C>G||||||,G|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000465378|processed_transcript|2/3|n.380+47C>G||||||,G|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000496831|processed_transcript|2/3|n.378+47C>G||||||,G|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding|2/6|c.143+47C>G||||||,G|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript|2/5|n.315+47C>G|||||| 22 46739140 . T A . . ANN=A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|2/10|c.249-19T>A||||||,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript|2/5|n.453-3179T>A||||||,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|2/9|n.249-3179T>A||||||,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|2/9|n.249-3179T>A||||||,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|2/9|n.249-3179T>A||||||,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|2/8|n.249-3179T>A||||||,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|2/10|n.249-19T>A||||||,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|2/9|c.249-19T>A||||||,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000465378|processed_transcript|2/3|n.381-19T>A||||||,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000496831|processed_transcript|2/3|n.379-3179T>A||||||,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding|2/6|c.144-19T>A||||||,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript|2/5|n.316-3179T>A|||||| 22 46739261 . T C . . ANN=C|synonymous_variant|LOW|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|3/11|c.351T>C|p.Asn117Asn|691/1940|351/1266|117/421||,C|synonymous_variant|LOW|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|3/10|c.351T>C|p.Asn117Asn|371/1381|351/1131|117/376||,C|synonymous_variant|LOW|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding|3/7|c.246T>C|p.Asn82Asn|454/1401|246/396|82/131||,C|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|3/11|c.351T>C||||||,C|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|6/11|c.351T>C||||||,C|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|5/11|c.351T>C||||||,C|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|4/11|c.351T>C||||||,C|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|3/10|c.351T>C||||||,C|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|6/10|c.351T>C||||||,C|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|5/10|c.351T>C||||||,C|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|4/10|c.351T>C||||||,C|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript|2/5|n.453-3058T>C||||||,C|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|2/9|n.249-3058T>C||||||,C|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|2/9|n.249-3058T>C||||||,C|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|2/9|n.249-3058T>C||||||,C|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|2/8|n.249-3058T>C||||||,C|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000496831|processed_transcript|2/3|n.379-3058T>C||||||,C|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript|2/5|n.316-3058T>C||||||,C|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|3/11|n.351T>C||||||,C|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000465378|processed_transcript|3/4|n.483T>C|||||| 22 46742350 . A G . . ANN=G|synonymous_variant|LOW|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|4/11|c.387A>G|p.Ala129Ala|727/1940|387/1266|129/421||,G|synonymous_variant|LOW|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|4/10|c.387A>G|p.Ala129Ala|407/1381|387/1131|129/376||,G|synonymous_variant|LOW|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding|4/7|c.282A>G|p.Ala94Ala|490/1401|282/396|94/131||,G|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|3/11|c.387A>G||||||,G|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|6/11|c.387A>G||||||,G|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|5/11|c.387A>G||||||,G|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|4/11|c.387A>G||||||,G|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|3/10|c.387A>G||||||,G|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|6/10|c.387A>G||||||,G|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|5/10|c.387A>G||||||,G|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|4/10|c.387A>G||||||,G|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript||n.-1A>G|||||3892|,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript|3/6|n.484A>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|3/10|n.280A>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|3/10|n.280A>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|3/10|n.280A>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|3/9|n.280A>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|4/11|n.387A>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000465378|processed_transcript|4/4|n.519A>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000496831|processed_transcript|3/4|n.410A>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript|3/6|n.347A>G|||||| 22 46742405 . G A . . ANN=A|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|4/11|c.442G>A|p.Glu148Lys|782/1940|442/1266|148/421||,A|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|4/10|c.442G>A|p.Glu148Lys|462/1381|442/1131|148/376||,A|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding|4/7|c.337G>A|p.Glu113Lys|545/1401|337/396|113/131||,A|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|3/11|c.442G>A||||||,A|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|6/11|c.442G>A||||||,A|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|5/11|c.442G>A||||||,A|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|4/11|c.442G>A||||||,A|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|3/10|c.442G>A||||||,A|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|6/10|c.442G>A||||||,A|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|5/10|c.442G>A||||||,A|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|4/10|c.442G>A||||||,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|3/10|n.*35G>A|||||35|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|3/10|n.*35G>A|||||35|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|3/10|n.*35G>A|||||35|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|3/9|n.*35G>A|||||35|,A|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript||n.-1G>A|||||3837|,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript|3/6|n.539G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|3/10|n.*35G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|3/10|n.*35G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|3/10|n.*35G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|3/9|n.*35G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|4/11|n.442G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000465378|processed_transcript|4/4|n.574G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000496831|processed_transcript|3/4|n.465G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript|3/6|n.402G>A|||||| 22 46742455 . C T . . ANN=T|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|3/11|c.478+14C>T||||||,T|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|6/11|c.478+14C>T||||||,T|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|5/11|c.478+14C>T||||||,T|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|4/11|c.478+14C>T||||||,T|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|3/10|c.478+14C>T||||||,T|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|6/10|c.478+14C>T||||||,T|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|5/10|c.478+14C>T||||||,T|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|4/10|c.478+14C>T||||||,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript||n.-1C>T|||||3787|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000465378|processed_transcript||n.*610C>T|||||14|,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|4/10|c.478+14C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript|3/5|n.575+14C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|3/9|n.*71+14C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|3/9|n.*71+14C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|3/9|n.*71+14C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|3/8|n.*71+14C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|4/10|n.478+14C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|4/9|c.478+14C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000496831|processed_transcript|3/3|n.501+14C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding|4/6|c.373+14C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript|3/5|n.438+14C>T|||||| 22 46742486 . T G . . ANN=G|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|3/11|c.478+45T>G||||||,G|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|6/11|c.478+45T>G||||||,G|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|5/11|c.478+45T>G||||||,G|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|4/11|c.478+45T>G||||||,G|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|3/10|c.478+45T>G||||||,G|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|6/10|c.478+45T>G||||||,G|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|5/10|c.478+45T>G||||||,G|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|4/10|c.478+45T>G||||||,G|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript||n.-1T>G|||||3756|,G|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000465378|processed_transcript||n.*610T>G|||||45|,G|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|4/10|c.478+45T>G||||||,G|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript|3/5|n.575+45T>G||||||,G|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|3/9|n.*71+45T>G||||||,G|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|3/9|n.*71+45T>G||||||,G|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|3/9|n.*71+45T>G||||||,G|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|3/8|n.*71+45T>G||||||,G|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|4/10|n.478+45T>G||||||,G|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|4/9|c.478+45T>G||||||,G|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000496831|processed_transcript|3/3|n.501+45T>G||||||,G|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding|4/6|c.373+45T>G||||||,G|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript|3/5|n.438+45T>G|||||| 22 46746188 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|5/11|c.479C>T|p.Ala160Val|819/1940|479/1266|160/421||,T|missense_variant&splice_region_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|5/10|c.479C>T|p.Ala160Val|499/1381|479/1131|160/376||,T|splice_region_variant&non_coding_exon_variant|LOW|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|4/10|n.*72C>T||||||,T|splice_region_variant&non_coding_exon_variant|LOW|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript|4/6|n.439C>T||||||,T|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|3/11|c.479C>T||||||,T|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|6/11|c.479C>T||||||,T|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|5/11|c.479C>T||||||,T|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|4/11|c.479C>T||||||,T|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|3/10|c.479C>T||||||,T|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|6/10|c.479C>T||||||,T|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|5/10|c.479C>T||||||,T|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|4/10|c.479C>T||||||,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|4/10|n.*72C>T|||||3818|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript||n.-1C>T|||||54|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000479648|retained_intron||n.-1C>T|||||1359|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000491612|retained_intron||n.-1C>T|||||2538|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485559|retained_intron||n.-1C>T|||||3226|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000470831|retained_intron||n.-1C>T|||||4419|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000465378|processed_transcript||n.*610C>T|||||3747|,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript|3/5|n.576-55C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|3/9|n.*72-59C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|3/9|n.*72-55C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|3/8|n.*72-59C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|4/10|n.479-55C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000496831|processed_transcript|3/3|n.502-55C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding|4/6|c.374-55C>T|||||| 22 46746261 . C T . . ANN=T|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding|5/7|c.392C>T|p.Pro131Leu|600/1401|392/396|131/131||,T|synonymous_variant|LOW|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|5/11|c.552C>T|p.Ala184Ala|892/1940|552/1266|184/421||,T|synonymous_variant|LOW|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|5/10|c.552C>T|p.Ala184Ala|572/1381|552/1131|184/376||,T|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|3/11|c.552C>T||||||,T|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|6/11|c.552C>T||||||,T|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|5/11|c.552C>T||||||,T|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|4/11|c.552C>T||||||,T|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|3/10|c.552C>T||||||,T|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|6/10|c.552C>T||||||,T|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|5/10|c.552C>T||||||,T|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|4/10|c.552C>T||||||,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|4/10|n.*86C>T|||||3891|,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|4/10|n.*145C>T|||||3891|,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|4/10|n.*90C>T|||||3891|,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|4/9|n.*86C>T|||||3891|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000479648|retained_intron||n.-1C>T|||||1286|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000491612|retained_intron||n.-1C>T|||||2465|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485559|retained_intron||n.-1C>T|||||3153|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000470831|retained_intron||n.-1C>T|||||4346|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000465378|processed_transcript||n.*610C>T|||||3820|,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript|4/6|n.594C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|4/10|n.*86C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|4/10|n.*145C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|4/10|n.*90C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|4/9|n.*86C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|5/11|n.497C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000496831|processed_transcript|4/4|n.520C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript|4/6|n.512C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript|1/4|n.20C>T|||||| 22 46746276 . C G . . ANN=G|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|5/11|c.567C>G|p.Ile189Met|907/1940|567/1266|189/421||,G|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|5/10|c.567C>G|p.Ile189Met|587/1381|567/1131|189/376||,G|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|3/11|c.567C>G||||||,G|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|6/11|c.567C>G||||||,G|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|5/11|c.567C>G||||||,G|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|4/11|c.567C>G||||||,G|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|3/10|c.567C>G||||||,G|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|6/10|c.567C>G||||||,G|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|5/10|c.567C>G||||||,G|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|4/10|c.567C>G||||||,G|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|4/10|n.*101C>G|||||3906|,G|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|4/10|n.*160C>G|||||3906|,G|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|4/10|n.*105C>G|||||3906|,G|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|4/9|n.*101C>G|||||3906|,G|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|5/11|n.*11C>G|||||11|,G|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding|5/7|c.*11C>G|||||11|,G|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000479648|retained_intron||n.-1C>G|||||1271|,G|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000491612|retained_intron||n.-1C>G|||||2450|,G|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485559|retained_intron||n.-1C>G|||||3138|,G|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000470831|retained_intron||n.-1C>G|||||4331|,G|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000465378|processed_transcript||n.*610C>G|||||3835|,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript|4/6|n.609C>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|4/10|n.*101C>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|4/10|n.*160C>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|4/10|n.*105C>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|4/9|n.*101C>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|5/11|n.*11C>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000496831|processed_transcript|4/4|n.535C>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript|4/6|n.527C>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript|1/4|n.35C>G|||||| 22 46746319 . G A . . ANN=A|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|5/11|c.610G>A|p.Ala204Thr|950/1940|610/1266|204/421||,A|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|5/10|c.610G>A|p.Ala204Thr|630/1381|610/1131|204/376||,A|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|3/11|c.610G>A||||||,A|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|6/11|c.610G>A||||||,A|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|5/11|c.610G>A||||||,A|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|4/11|c.610G>A||||||,A|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|3/10|c.610G>A||||||,A|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|6/10|c.610G>A||||||,A|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|5/10|c.610G>A||||||,A|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|4/10|c.610G>A||||||,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|4/10|n.*144G>A|||||3949|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|4/10|n.*203G>A|||||3949|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|4/10|n.*148G>A|||||3949|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|4/9|n.*144G>A|||||3949|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|5/11|n.*54G>A|||||54|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding|5/7|c.*54G>A|||||54|,A|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000479648|retained_intron||n.-1G>A|||||1228|,A|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000491612|retained_intron||n.-1G>A|||||2407|,A|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485559|retained_intron||n.-1G>A|||||3095|,A|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000470831|retained_intron||n.-1G>A|||||4288|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000465378|processed_transcript||n.*610G>A|||||3878|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000496831|processed_transcript||n.*576G>A|||||2|,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript|4/6|n.652G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|4/10|n.*144G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|4/10|n.*203G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|4/10|n.*148G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|4/9|n.*144G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|5/11|n.*54G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript|4/6|n.570G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript|1/4|n.78G>A|||||| 22 46746407 . G A . . ANN=A|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|3/11|c.651+47G>A||||||,A|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|6/11|c.651+47G>A||||||,A|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|5/11|c.651+47G>A||||||,A|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|4/11|c.651+47G>A||||||,A|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|3/10|c.651+47G>A||||||,A|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|6/10|c.651+47G>A||||||,A|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|5/10|c.651+47G>A||||||,A|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|4/10|c.651+47G>A||||||,A|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000479648|retained_intron||n.-1G>A|||||1140|,A|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000491612|retained_intron||n.-1G>A|||||2319|,A|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485559|retained_intron||n.-1G>A|||||3007|,A|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000470831|retained_intron||n.-1G>A|||||4200|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000465378|processed_transcript||n.*610G>A|||||3966|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000496831|processed_transcript||n.*576G>A|||||90|,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|5/10|c.651+47G>A||||||,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript|4/5|n.693+47G>A||||||,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|4/9|n.*185+47G>A||||||,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|4/9|n.*244+47G>A||||||,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|4/9|n.*189+47G>A||||||,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|4/8|n.*185+47G>A||||||,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|5/10|n.*95+47G>A||||||,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|5/9|c.651+47G>A||||||,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding|5/6|c.*95+47G>A||||||,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript|4/5|n.611+47G>A||||||,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript|1/3|n.119+47G>A|||||| 22 46747975 . C T . . ANN=T|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|3/11|c.652-43C>T||||||,T|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|6/11|c.652-43C>T||||||,T|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|5/11|c.652-43C>T||||||,T|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|4/11|c.652-43C>T||||||,T|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|3/10|c.652-43C>T||||||,T|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|6/10|c.652-43C>T||||||,T|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|5/10|c.652-43C>T||||||,T|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|4/10|c.652-43C>T||||||,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000491612|retained_intron||n.-1C>T|||||751|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485559|retained_intron||n.-1C>T|||||1439|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000470831|retained_intron||n.-1C>T|||||2632|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000496831|processed_transcript||n.*576C>T|||||1658|,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|5/10|c.652-43C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript|4/5|n.694-43C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|4/9|n.*186-43C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|4/9|n.*245-43C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|4/9|n.*190-43C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|4/8|n.*186-43C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|5/10|n.*96-43C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|5/9|c.652-43C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding|5/6|c.*96-43C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript|4/5|n.612-43C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript|1/3|n.120-43C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000479648|retained_intron|1/2|n.429C>T|||||| 22 46747995 . C T . . ANN=T|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|3/11|c.652-23C>T||||||,T|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|6/11|c.652-23C>T||||||,T|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|5/11|c.652-23C>T||||||,T|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|4/11|c.652-23C>T||||||,T|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|3/10|c.652-23C>T||||||,T|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|6/10|c.652-23C>T||||||,T|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|5/10|c.652-23C>T||||||,T|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|4/10|c.652-23C>T||||||,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000491612|retained_intron||n.-1C>T|||||731|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485559|retained_intron||n.-1C>T|||||1419|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000470831|retained_intron||n.-1C>T|||||2612|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000496831|processed_transcript||n.*576C>T|||||1678|,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|5/10|c.652-23C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript|4/5|n.694-23C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|4/9|n.*186-23C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|4/9|n.*245-23C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|4/9|n.*190-23C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|4/8|n.*186-23C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|5/10|n.*96-23C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|5/9|c.652-23C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding|5/6|c.*96-23C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript|4/5|n.612-23C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript|1/3|n.120-23C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000479648|retained_intron|1/2|n.449C>T|||||| 22 46748026 . C T . . ANN=T|synonymous_variant|LOW|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|6/11|c.660C>T|p.Gly220Gly|1000/1940|660/1266|220/421||,T|synonymous_variant|LOW|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|6/10|c.660C>T|p.Gly220Gly|680/1381|660/1131|220/376||,T|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|3/11|c.660C>T||||||,T|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|6/11|c.660C>T||||||,T|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|5/11|c.660C>T||||||,T|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|4/11|c.660C>T||||||,T|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|3/10|c.660C>T||||||,T|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|6/10|c.660C>T||||||,T|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|5/10|c.660C>T||||||,T|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|4/10|c.660C>T||||||,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|5/10|n.*194C>T|||||5656|,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|5/10|n.*253C>T|||||5656|,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|5/10|n.*198C>T|||||5656|,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|5/9|n.*194C>T|||||5656|,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|6/11|n.*104C>T|||||1761|,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding|6/7|c.*104C>T|||||1761|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000491612|retained_intron||n.-1C>T|||||700|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485559|retained_intron||n.-1C>T|||||1388|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000470831|retained_intron||n.-1C>T|||||2581|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000496831|processed_transcript||n.*576C>T|||||1709|,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript|5/6|n.702C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|5/10|n.*194C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|5/10|n.*253C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|5/10|n.*198C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|5/9|n.*194C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|6/11|n.*104C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript|5/6|n.620C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript|2/4|n.128C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000479648|retained_intron|1/2|n.480C>T|||||| 22 46748130 . C G . . ANN=G|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000491612|retained_intron||n.-1C>G|||||596|,G|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485559|retained_intron||n.-1C>G|||||1284|,G|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000470831|retained_intron||n.-1C>G|||||2477|,G|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000496831|processed_transcript||n.*576C>G|||||1813|,G|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|6/10|c.706-31C>G||||||,G|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript|5/5|n.748-31C>G||||||,G|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|5/9|n.*240-31C>G||||||,G|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|5/9|n.*299-31C>G||||||,G|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|5/9|n.*244-31C>G||||||,G|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|5/8|n.*240-31C>G||||||,G|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|6/10|n.*150-31C>G||||||,G|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|6/9|c.706-31C>G||||||,G|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding|6/6|c.*150-31C>G||||||,G|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript|5/5|n.666-31C>G||||||,G|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript|2/3|n.174-31C>G||||||,G|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000479648|retained_intron|1/1|n.526-31C>G|||||| 22 46748133 . C T . . ANN=T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000491612|retained_intron||n.-1C>T|||||593|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485559|retained_intron||n.-1C>T|||||1281|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000470831|retained_intron||n.-1C>T|||||2474|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000496831|processed_transcript||n.*576C>T|||||1816|,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|6/10|c.706-28C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript|5/5|n.748-28C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|5/9|n.*240-28C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|5/9|n.*299-28C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|5/9|n.*244-28C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|5/8|n.*240-28C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|6/10|n.*150-28C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|6/9|c.706-28C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding|6/6|c.*150-28C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript|5/5|n.666-28C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript|2/3|n.174-28C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000479648|retained_intron|1/1|n.526-28C>T|||||| 22 46748137 . G A . . ANN=A|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000491612|retained_intron||n.-1G>A|||||589|,A|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485559|retained_intron||n.-1G>A|||||1277|,A|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000470831|retained_intron||n.-1G>A|||||2470|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000496831|processed_transcript||n.*576G>A|||||1820|,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|6/10|c.706-24G>A||||||,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript|5/5|n.748-24G>A||||||,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|5/9|n.*240-24G>A||||||,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|5/9|n.*299-24G>A||||||,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|5/9|n.*244-24G>A||||||,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|5/8|n.*240-24G>A||||||,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|6/10|n.*150-24G>A||||||,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|6/9|c.706-24G>A||||||,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding|6/6|c.*150-24G>A||||||,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript|5/5|n.666-24G>A||||||,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript|2/3|n.174-24G>A||||||,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000479648|retained_intron|1/1|n.526-24G>A|||||| 22 46749634 . C T . . ANN=T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000470831|retained_intron||n.-1C>T|||||973|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.*814C>T|||||1407|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000496831|processed_transcript||n.*576C>T|||||3317|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding||c.*604C>T|||||826|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript||n.*731C>T|||||1408|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript||n.*557C>T|||||896|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000479648|retained_intron||n.*574C>T|||||1425|,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|7/10|c.773-30C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|6/9|n.*307-30C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|6/9|n.*366-30C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|6/9|n.*311-30C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|6/8|n.*307-30C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|7/10|n.*217-30C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|7/9|c.773-30C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000491612|retained_intron|1/2|n.909C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485559|retained_intron|1/3|n.221C>T|||||| 22 46749744 . G A . . ANN=A|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|8/11|c.853G>A|p.Val285Ile|1193/1940|853/1266|285/421||,A|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|8/10|c.853G>A|p.Val285Ile|873/1381|853/1131|285/376||,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|7/10|n.*387G>A|||||7374|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|7/10|n.*446G>A|||||7374|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|7/10|n.*391G>A|||||7374|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|7/9|n.*387G>A|||||7374|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|8/11|n.*297G>A|||||3479|,A|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000470831|retained_intron||n.-1G>A|||||863|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.*814G>A|||||1517|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000496831|processed_transcript||n.*576G>A|||||3427|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding||c.*604G>A|||||936|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript||n.*731G>A|||||1518|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript||n.*557G>A|||||1006|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000479648|retained_intron||n.*574G>A|||||1535|,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|7/10|n.*387G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|7/10|n.*446G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|7/10|n.*391G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|7/9|n.*387G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|8/11|n.*297G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000491612|retained_intron|1/2|n.1019G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485559|retained_intron|1/3|n.331G>A|||||| 22 46749755 . C T . . ANN=T|synonymous_variant|LOW|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|8/11|c.864C>T|p.Asp288Asp|1204/1940|864/1266|288/421||,T|synonymous_variant|LOW|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|8/10|c.864C>T|p.Asp288Asp|884/1381|864/1131|288/376||,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|7/10|n.*398C>T|||||7385|,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|7/10|n.*457C>T|||||7385|,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|7/10|n.*402C>T|||||7385|,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|7/9|n.*398C>T|||||7385|,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|8/11|n.*308C>T|||||3490|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000470831|retained_intron||n.-1C>T|||||852|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.*814C>T|||||1528|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000496831|processed_transcript||n.*576C>T|||||3438|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding||c.*604C>T|||||947|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript||n.*731C>T|||||1529|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript||n.*557C>T|||||1017|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000479648|retained_intron||n.*574C>T|||||1546|,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|7/10|n.*398C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|7/10|n.*457C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|7/10|n.*402C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|7/9|n.*398C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|8/11|n.*308C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000491612|retained_intron|1/2|n.1030C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485559|retained_intron|1/3|n.342C>T|||||| 22 46751367 . G T . . ANN=T|synonymous_variant|LOW|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|9/11|c.900G>T|p.Leu300Leu|1240/1940|900/1266|300/421||,T|synonymous_variant|LOW|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|9/10|c.900G>T|p.Leu300Leu|920/1381|900/1131|300/376||,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|8/10|n.*434G>T|||||8997|,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|8/10|n.*493G>T|||||8997|,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|8/10|n.*438G>T|||||8997|,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|8/9|n.*434G>T|||||8997|,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|9/11|n.*344G>T|||||5102|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.*814G>T|||||3140|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding||c.*604G>T|||||2559|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript||n.*731G>T|||||3141|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript||n.*557G>T|||||2629|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000479648|retained_intron||n.*574G>T|||||3158|,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|8/10|n.*434G>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|8/10|n.*493G>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|8/10|n.*438G>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|8/9|n.*434G>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|9/11|n.*344G>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000491612|retained_intron|2/2|n.1066G>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485559|retained_intron|1/3|n.1954G>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000470831|retained_intron|1/2|n.761G>T|||||| 22 46751369 . A G . . ANN=G|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|9/11|c.902A>G|p.Tyr301Cys|1242/1940|902/1266|301/421||,G|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|9/10|c.902A>G|p.Tyr301Cys|922/1381|902/1131|301/376||,G|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|8/10|n.*436A>G|||||8999|,G|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|8/10|n.*495A>G|||||8999|,G|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|8/10|n.*440A>G|||||8999|,G|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|8/9|n.*436A>G|||||8999|,G|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|9/11|n.*346A>G|||||5104|,G|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.*814A>G|||||3142|,G|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding||c.*604A>G|||||2561|,G|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript||n.*731A>G|||||3143|,G|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript||n.*557A>G|||||2631|,G|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000479648|retained_intron||n.*574A>G|||||3160|,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|8/10|n.*436A>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|8/10|n.*495A>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|8/10|n.*440A>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|8/9|n.*436A>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|9/11|n.*346A>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000491612|retained_intron|2/2|n.1068A>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485559|retained_intron|1/3|n.1956A>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000470831|retained_intron|1/2|n.763A>G|||||| 22 46751377 . C G . . ANN=G|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|9/11|c.910C>G|p.Leu304Val|1250/1940|910/1266|304/421||,G|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|9/10|c.910C>G|p.Leu304Val|930/1381|910/1131|304/376||,G|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|8/10|n.*444C>G|||||9007|,G|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|8/10|n.*503C>G|||||9007|,G|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|8/10|n.*448C>G|||||9007|,G|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|8/9|n.*444C>G|||||9007|,G|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|9/11|n.*354C>G|||||5112|,G|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.*814C>G|||||3150|,G|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding||c.*604C>G|||||2569|,G|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript||n.*731C>G|||||3151|,G|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript||n.*557C>G|||||2639|,G|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000479648|retained_intron||n.*574C>G|||||3168|,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|8/10|n.*444C>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|8/10|n.*503C>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|8/10|n.*448C>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|8/9|n.*444C>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|9/11|n.*354C>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000491612|retained_intron|2/2|n.1076C>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485559|retained_intron|1/3|n.1964C>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000470831|retained_intron|1/2|n.771C>G|||||| 22 46751394 . C T . . ANN=T|synonymous_variant|LOW|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|9/11|c.927C>T|p.Arg309Arg|1267/1940|927/1266|309/421||,T|synonymous_variant|LOW|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|9/10|c.927C>T|p.Arg309Arg|947/1381|927/1131|309/376||,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|8/10|n.*461C>T|||||9024|,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|8/10|n.*520C>T|||||9024|,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|8/10|n.*465C>T|||||9024|,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|8/9|n.*461C>T|||||9024|,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|9/11|n.*371C>T|||||5129|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.*814C>T|||||3167|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding||c.*604C>T|||||2586|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript||n.*731C>T|||||3168|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript||n.*557C>T|||||2656|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000479648|retained_intron||n.*574C>T|||||3185|,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|8/10|n.*461C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|8/10|n.*520C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|8/10|n.*465C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|8/9|n.*461C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|9/11|n.*371C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000491612|retained_intron|2/2|n.1093C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485559|retained_intron|1/3|n.1981C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000470831|retained_intron|1/2|n.788C>T|||||| 22 46751415 . G A . . ANN=A|synonymous_variant|LOW|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|9/11|c.948G>A|p.Glu316Glu|1288/1940|948/1266|316/421||,A|synonymous_variant|LOW|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|9/10|c.948G>A|p.Glu316Glu|968/1381|948/1131|316/376||,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|8/10|n.*482G>A|||||9045|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|8/10|n.*541G>A|||||9045|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|8/10|n.*486G>A|||||9045|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|8/9|n.*482G>A|||||9045|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|9/11|n.*392G>A|||||5150|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.*814G>A|||||3188|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding||c.*604G>A|||||2607|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript||n.*731G>A|||||3189|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript||n.*557G>A|||||2677|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000479648|retained_intron||n.*574G>A|||||3206|,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|8/10|n.*482G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|8/10|n.*541G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|8/10|n.*486G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|8/9|n.*482G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|9/11|n.*392G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000491612|retained_intron|2/2|n.1114G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485559|retained_intron|1/3|n.2002G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000470831|retained_intron|1/2|n.809G>A|||||| 22 46751426 . C T . . ANN=T|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|9/11|c.959C>T|p.Ala320Val|1299/1940|959/1266|320/421||,T|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|9/10|c.959C>T|p.Ala320Val|979/1381|959/1131|320/376||,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|8/10|n.*493C>T|||||9056|,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|8/10|n.*552C>T|||||9056|,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|8/10|n.*497C>T|||||9056|,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|8/9|n.*493C>T|||||9056|,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|9/11|n.*403C>T|||||5161|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.*814C>T|||||3199|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding||c.*604C>T|||||2618|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript||n.*731C>T|||||3200|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript||n.*557C>T|||||2688|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000479648|retained_intron||n.*574C>T|||||3217|,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|8/10|n.*493C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|8/10|n.*552C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|8/10|n.*497C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|8/9|n.*493C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|9/11|n.*403C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000491612|retained_intron|2/2|n.1125C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485559|retained_intron|1/3|n.2013C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000470831|retained_intron|1/2|n.820C>T|||||| 22 46751430 . G A . . ANN=A|synonymous_variant|LOW|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|9/11|c.963G>A|p.Leu321Leu|1303/1940|963/1266|321/421||,A|synonymous_variant|LOW|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|9/10|c.963G>A|p.Leu321Leu|983/1381|963/1131|321/376||,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|8/10|n.*497G>A|||||9060|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|8/10|n.*556G>A|||||9060|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|8/10|n.*501G>A|||||9060|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|8/9|n.*497G>A|||||9060|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|9/11|n.*407G>A|||||5165|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.*814G>A|||||3203|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding||c.*604G>A|||||2622|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript||n.*731G>A|||||3204|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript||n.*557G>A|||||2692|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000479648|retained_intron||n.*574G>A|||||3221|,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|8/10|n.*497G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|8/10|n.*556G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|8/10|n.*501G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|8/9|n.*497G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|9/11|n.*407G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000491612|retained_intron|2/2|n.1129G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485559|retained_intron|1/3|n.2017G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000470831|retained_intron|1/2|n.824G>A|||||| 22 46751443 . A G . . ANN=G|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|9/11|c.976A>G|p.Met326Val|1316/1940|976/1266|326/421||,G|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|9/10|c.976A>G|p.Met326Val|996/1381|976/1131|326/376||,G|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|8/10|n.*510A>G|||||9073|,G|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|8/10|n.*569A>G|||||9073|,G|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|8/10|n.*514A>G|||||9073|,G|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|8/9|n.*510A>G|||||9073|,G|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|9/11|n.*420A>G|||||5178|,G|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.*814A>G|||||3216|,G|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding||c.*604A>G|||||2635|,G|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript||n.*731A>G|||||3217|,G|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript||n.*557A>G|||||2705|,G|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000479648|retained_intron||n.*574A>G|||||3234|,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|8/10|n.*510A>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|8/10|n.*569A>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|8/10|n.*514A>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|8/9|n.*510A>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|9/11|n.*420A>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000491612|retained_intron|2/2|n.1142A>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485559|retained_intron|1/3|n.2030A>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000470831|retained_intron|1/2|n.837A>G|||||| 22 46751468 . G A . . ANN=A|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|9/11|c.1001G>A|p.Arg334His|1341/1940|1001/1266|334/421||,A|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|9/10|c.1001G>A|p.Arg334His|1021/1381|1001/1131|334/376||,A|sequence_feature|LOW|TRMU|ENSG00000100416|interacting_region:Interaction_with_tRNA|ENST00000290846|protein_coding|9/11|c.1001G>A||||||,A|sequence_feature|LOW|TRMU|ENSG00000100416|interacting_region:Interaction_with_tRNA|ENST00000381019|protein_coding|9/10|c.1001G>A||||||,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|8/10|n.*535G>A|||||9098|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|8/10|n.*594G>A|||||9098|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|8/10|n.*539G>A|||||9098|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|8/9|n.*535G>A|||||9098|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|9/11|n.*445G>A|||||5203|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.*814G>A|||||3241|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding||c.*604G>A|||||2660|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript||n.*731G>A|||||3242|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript||n.*557G>A|||||2730|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000479648|retained_intron||n.*574G>A|||||3259|,A|TF_binding_site_variant|MODIFIER|||CTCF|MA0139.1|||||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|8/10|n.*535G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|8/10|n.*594G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|8/10|n.*539G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|8/9|n.*535G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|9/11|n.*445G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000491612|retained_intron|2/2|n.1167G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485559|retained_intron|1/3|n.2055G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000470831|retained_intron|1/2|n.862G>A|||||| 22 46751501 . GCTC G . . ANN=|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.*814_*814delCTC|||||3275|,|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding||c.*604_*604delCTC|||||2694|,|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript||n.*731_*731delCTC|||||3276|,|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript||n.*557_*557delCTC|||||2764|,|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000479648|retained_intron||n.*574_*574delCTC|||||3293|,|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|9/10|c.1018+19_1018+21delCCT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|8/9|n.*552+19_*552+21delCCT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|8/9|n.*611+19_*611+21delCCT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|8/9|n.*556+19_*556+21delCCT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|8/8|n.*552+19_*552+21delCCT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|9/10|n.*462+19_*462+21delCCT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|9/9|c.1018+19_1018+21delCCT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485559|retained_intron|1/2|n.2072+19_2072+21delCCT||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000491612|retained_intron|2/2|n.1203_1205delCCT||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000470831|retained_intron|1/2|n.898_900delCCT||||||INFO_REALIGN_3_PRIME 22 46751530 . G A . . ANN=A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.*814G>A|||||3303|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding||c.*604G>A|||||2722|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript||n.*731G>A|||||3304|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript||n.*557G>A|||||2792|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000479648|retained_intron||n.*574G>A|||||3321|,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|9/10|c.1018+45G>A||||||,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|8/9|n.*552+45G>A||||||,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|8/9|n.*611+45G>A||||||,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|8/9|n.*556+45G>A||||||,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|8/8|n.*552+45G>A||||||,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|9/10|n.*462+45G>A||||||,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|9/9|c.1018+45G>A||||||,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485559|retained_intron|1/2|n.2072+45G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000491612|retained_intron|2/2|n.1229G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000470831|retained_intron|1/2|n.924G>A|||||| 22 46751863 . C T . . ANN=T|downstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding||c.*9045G>A|||||4868|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.*814C>T|||||3636|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding||c.*604C>T|||||3055|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript||n.*731C>T|||||3637|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript||n.*557C>T|||||3125|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000479648|retained_intron||n.*574C>T|||||3654|,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|9/10|c.1019-24C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|8/9|n.*553-24C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|8/9|n.*612-24C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|8/9|n.*557-24C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|8/8|n.*552+378C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|9/10|n.*463-24C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|9/9|c.1018+378C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485559|retained_intron|1/2|n.2073-24C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000491612|retained_intron|2/2|n.1562C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000470831|retained_intron|1/2|n.1257C>T|||||| 22 46751869 . C A . . ANN=A|downstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding||c.*9045G>T|||||4862|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.*814C>A|||||3642|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding||c.*604C>A|||||3061|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript||n.*731C>A|||||3643|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript||n.*557C>A|||||3131|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000479648|retained_intron||n.*574C>A|||||3660|,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|9/10|c.1019-18C>A||||||,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|8/9|n.*553-18C>A||||||,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|8/9|n.*612-18C>A||||||,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|8/9|n.*557-18C>A||||||,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|8/8|n.*552+384C>A||||||,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|9/10|n.*463-18C>A||||||,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|9/9|c.1018+384C>A||||||,A|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485559|retained_intron|1/2|n.2073-18C>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000491612|retained_intron|2/2|n.1568C>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000470831|retained_intron|1/2|n.1263C>A|||||| 22 46751949 . C T . . ANN=T|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|10/11|c.1081C>T|p.Arg361Cys|1421/1940|1081/1266|361/421||,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|9/10|n.*615C>T|||||9579|,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|9/10|n.*674C>T|||||9579|,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|9/10|n.*619C>T|||||9579|,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|10/11|n.*525C>T|||||5684|,T|downstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding||c.*9045G>A|||||4782|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.*814C>T|||||3722|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding||c.*604C>T|||||3141|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript||n.*731C>T|||||3723|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript||n.*557C>T|||||3211|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000479648|retained_intron||n.*574C>T|||||3740|,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|8/8|n.*552+464C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|9/9|c.1018+464C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|9/10|n.*615C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|9/10|n.*674C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|9/10|n.*619C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|10/11|n.*525C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000491612|retained_intron|2/2|n.1648C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485559|retained_intron|2/3|n.2135C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000470831|retained_intron|1/2|n.1343C>T|||||| 22 46752019 . C T . . ANN=T|downstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding||c.*9045G>A|||||4712|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.*814C>T|||||3792|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding||c.*604C>T|||||3211|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript||n.*731C>T|||||3793|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript||n.*557C>T|||||3281|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000479648|retained_intron||n.*574C>T|||||3810|,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|10/10|c.1101+50C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|9/9|n.*635+50C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|9/9|n.*694+50C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|9/9|n.*639+50C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|8/8|n.*552+534C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|10/10|n.*545+50C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|9/9|c.1018+534C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485559|retained_intron|2/2|n.2155+50C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000470831|retained_intron|1/1|n.1363+50C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000491612|retained_intron|2/2|n.1718C>T|||||| 22 46752708 . C T . . ANN=T|downstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding||c.*9045G>A|||||4023|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.*814C>T|||||4481|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding||c.*604C>T|||||3900|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript||n.*731C>T|||||4482|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript||n.*557C>T|||||3970|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000479648|retained_intron||n.*574C>T|||||4499|,T|downstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.*3453G>A|||||4363|,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|10/10|c.1102-31C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|9/9|n.*636-31C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|9/9|n.*695-31C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|9/9|n.*640-31C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|8/8|n.*553-31C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|10/10|n.*546-31C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|9/9|c.1019-31C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485559|retained_intron|2/2|n.2156-31C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000470831|retained_intron|1/1|n.1364-31C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000491612|retained_intron|2/2|n.2407C>T|||||| 22 46752712 . CCT C . . ANN=|downstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding||c.*9045_*9045delAG|||||4018|,|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.*814_*814delCT|||||4486|,|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding||c.*604_*604delCT|||||3905|,|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript||n.*731_*731delCT|||||4487|,|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript||n.*557_*557delCT|||||3975|,|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000479648|retained_intron||n.*574_*574delCT|||||4504|,|downstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.*3453_*3453delAG|||||4358|,|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|10/10|c.1102-26_1102-25delCT||||||,|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|9/9|n.*636-26_*636-25delCT||||||,|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|9/9|n.*695-26_*695-25delCT||||||,|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|9/9|n.*640-26_*640-25delCT||||||,|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|8/8|n.*553-26_*553-25delCT||||||,|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|10/10|n.*546-26_*546-25delCT||||||,|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|9/9|c.1019-26_1019-25delCT||||||,|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485559|retained_intron|2/2|n.2156-26_2156-25delCT||||||,|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000470831|retained_intron|1/1|n.1364-26_1364-25delCT||||||,|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000491612|retained_intron|2/2|n.2412_2413delCT|||||| 22 46752795 . G A . . ANN=A|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|10/10|c.1075G>A|p.Gly359Arg|1095/1381|1075/1131|359/376||,A|synonymous_variant|LOW|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|11/11|c.1158G>A|p.Leu386Leu|1498/1940|1158/1266|386/421||,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|10/10|n.*692G>A|||||10425|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|10/10|n.*751G>A|||||10425|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|10/10|n.*696G>A|||||10425|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|9/9|n.*609G>A|||||10425|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|11/11|n.*602G>A|||||6530|,A|downstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding||c.*9045C>T|||||3936|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.*814G>A|||||4568|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding||c.*604G>A|||||3987|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript||n.*731G>A|||||4569|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript||n.*557G>A|||||4057|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000479648|retained_intron||n.*574G>A|||||4586|,A|downstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.*3453C>T|||||4276|,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|10/10|n.*692G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|10/10|n.*751G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|10/10|n.*696G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|9/9|n.*609G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|11/11|n.*602G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000491612|retained_intron|2/2|n.2494G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485559|retained_intron|3/3|n.2212G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000470831|retained_intron|2/2|n.1420G>A|||||| 22 46752800 . C T . . ANN=T|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|11/11|c.1163C>T|p.Pro388Leu|1503/1940|1163/1266|388/421||,T|synonymous_variant|LOW|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|10/10|c.1080C>T|p.Ala360Ala|1100/1381|1080/1131|360/376||,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|10/10|n.*697C>T|||||10430|,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|10/10|n.*756C>T|||||10430|,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|10/10|n.*701C>T|||||10430|,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|9/9|n.*614C>T|||||10430|,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|11/11|n.*607C>T|||||6535|,T|downstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding||c.*9045G>A|||||3931|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.*814C>T|||||4573|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding||c.*604C>T|||||3992|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript||n.*731C>T|||||4574|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript||n.*557C>T|||||4062|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000479648|retained_intron||n.*574C>T|||||4591|,T|downstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.*3453G>A|||||4271|,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|10/10|n.*697C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|10/10|n.*756C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|10/10|n.*701C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|9/9|n.*614C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|11/11|n.*607C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000491612|retained_intron|2/2|n.2499C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485559|retained_intron|3/3|n.2217C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000470831|retained_intron|2/2|n.1425C>T|||||| 22 46752801 . G A . . ANN=A|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|10/10|c.1081G>A|p.Val361Ile|1101/1381|1081/1131|361/376||,A|synonymous_variant|LOW|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|11/11|c.1164G>A|p.Pro388Pro|1504/1940|1164/1266|388/421||,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|10/10|n.*698G>A|||||10431|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|10/10|n.*757G>A|||||10431|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|10/10|n.*702G>A|||||10431|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|9/9|n.*615G>A|||||10431|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|11/11|n.*608G>A|||||6536|,A|downstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding||c.*9045C>T|||||3930|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.*814G>A|||||4574|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding||c.*604G>A|||||3993|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript||n.*731G>A|||||4575|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript||n.*557G>A|||||4063|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000479648|retained_intron||n.*574G>A|||||4592|,A|downstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.*3453C>T|||||4270|,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|10/10|n.*698G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|10/10|n.*757G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|10/10|n.*702G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|9/9|n.*615G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|11/11|n.*608G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000491612|retained_intron|2/2|n.2500G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485559|retained_intron|3/3|n.2218G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000470831|retained_intron|2/2|n.1426G>A|||||| 22 46752813 . G A . . ANN=A|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|10/10|c.1093G>A|p.Ala365Thr|1113/1381|1093/1131|365/376||,A|synonymous_variant|LOW|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|11/11|c.1176G>A|p.Thr392Thr|1516/1940|1176/1266|392/421||,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|10/10|n.*710G>A|||||10443|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|10/10|n.*769G>A|||||10443|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|10/10|n.*714G>A|||||10443|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|9/9|n.*627G>A|||||10443|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|11/11|n.*620G>A|||||6548|,A|downstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding||c.*9045C>T|||||3918|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.*814G>A|||||4586|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding||c.*604G>A|||||4005|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript||n.*731G>A|||||4587|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript||n.*557G>A|||||4075|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000479648|retained_intron||n.*574G>A|||||4604|,A|downstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.*3453C>T|||||4258|,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|10/10|n.*710G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|10/10|n.*769G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|10/10|n.*714G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|9/9|n.*627G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|11/11|n.*620G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000491612|retained_intron|2/2|n.2512G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485559|retained_intron|3/3|n.2230G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000470831|retained_intron|2/2|n.1438G>A|||||| 22 46752829 . C T . . ANN=T|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|11/11|c.1192C>T|p.Arg398Cys|1532/1940|1192/1266|398/421||,T|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|10/10|c.1109C>T|p.Ala370Val|1129/1381|1109/1131|370/376||,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|10/10|n.*726C>T|||||10459|,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|10/10|n.*785C>T|||||10459|,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|10/10|n.*730C>T|||||10459|,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|9/9|n.*643C>T|||||10459|,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|11/11|n.*636C>T|||||6564|,T|downstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding||c.*9045G>A|||||3902|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.*814C>T|||||4602|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding||c.*604C>T|||||4021|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript||n.*731C>T|||||4603|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript||n.*557C>T|||||4091|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000479648|retained_intron||n.*574C>T|||||4620|,T|downstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.*3453G>A|||||4242|,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|10/10|n.*726C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|10/10|n.*785C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|10/10|n.*730C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|9/9|n.*643C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|11/11|n.*636C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000491612|retained_intron|2/2|n.2528C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485559|retained_intron|3/3|n.2246C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000470831|retained_intron|2/2|n.1454C>T|||||| 22 46752840 . G C . . ANN=C|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|10/10|c.1120G>C|p.Asp374His|1140/1381|1120/1131|374/376||,C|synonymous_variant|LOW|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|11/11|c.1203G>C|p.Gly401Gly|1543/1940|1203/1266|401/421||,C|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|10/10|n.*737G>C|||||10470|,C|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|10/10|n.*796G>C|||||10470|,C|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|10/10|n.*741G>C|||||10470|,C|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|9/9|n.*654G>C|||||10470|,C|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|11/11|n.*647G>C|||||6575|,C|downstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding||c.*9045C>G|||||3891|,C|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.*814G>C|||||4613|,C|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding||c.*604G>C|||||4032|,C|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript||n.*731G>C|||||4614|,C|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript||n.*557G>C|||||4102|,C|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000479648|retained_intron||n.*574G>C|||||4631|,C|downstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.*3453C>G|||||4231|,C|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|10/10|n.*737G>C||||||,C|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|10/10|n.*796G>C||||||,C|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|10/10|n.*741G>C||||||,C|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|9/9|n.*654G>C||||||,C|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|11/11|n.*647G>C||||||,C|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000491612|retained_intron|2/2|n.2539G>C||||||,C|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485559|retained_intron|3/3|n.2257G>C||||||,C|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000470831|retained_intron|2/2|n.1465G>C|||||| 22 46752911 . G C . . ANN=C|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|11/11|c.*8G>C|||||8|,C|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|10/10|n.*808G>C|||||10541|,C|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|10/10|n.*867G>C|||||10541|,C|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|10/10|n.*812G>C|||||10541|,C|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|9/9|n.*725G>C|||||10541|,C|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|11/11|n.*718G>C|||||6646|,C|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|10/10|c.*60G>C|||||60|,C|downstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding||c.*9045C>G|||||3820|,C|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.*814G>C|||||4684|,C|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding||c.*604G>C|||||4103|,C|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript||n.*731G>C|||||4685|,C|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript||n.*557G>C|||||4173|,C|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000479648|retained_intron||n.*574G>C|||||4702|,C|downstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.*3453C>G|||||4160|,C|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|10/10|n.*808G>C||||||,C|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|10/10|n.*867G>C||||||,C|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|10/10|n.*812G>C||||||,C|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|9/9|n.*725G>C||||||,C|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|11/11|n.*718G>C||||||,C|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000491612|retained_intron|2/2|n.2610G>C||||||,C|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485559|retained_intron|3/3|n.2328G>C||||||,C|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000470831|retained_intron|2/2|n.1536G>C|||||| 22 46752946 . T A,C,G . . ANN=A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|11/11|c.*43T>A|||||43|,C|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|11/11|c.*43T>C|||||43|,G|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|11/11|c.*43T>G|||||43|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|10/10|n.*843T>A|||||10576|,C|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|10/10|n.*843T>C|||||10576|,G|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|10/10|n.*843T>G|||||10576|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|10/10|n.*902T>A|||||10576|,C|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|10/10|n.*902T>C|||||10576|,G|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|10/10|n.*902T>G|||||10576|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|10/10|n.*847T>A|||||10576|,C|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|10/10|n.*847T>C|||||10576|,G|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|10/10|n.*847T>G|||||10576|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|9/9|n.*760T>A|||||10576|,C|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|9/9|n.*760T>C|||||10576|,G|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|9/9|n.*760T>G|||||10576|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|11/11|n.*753T>A|||||6681|,C|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|11/11|n.*753T>C|||||6681|,G|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|11/11|n.*753T>G|||||6681|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|10/10|c.*95T>A|||||95|,C|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|10/10|c.*95T>C|||||95|,G|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|10/10|c.*95T>G|||||95|,A|downstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding||c.*9045A>T|||||3785|,C|downstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding||c.*9045A>G|||||3785|,G|downstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding||c.*9045A>C|||||3785|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.*814T>A|||||4719|,C|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.*814T>C|||||4719|,G|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.*814T>G|||||4719|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding||c.*604T>A|||||4138|,C|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding||c.*604T>C|||||4138|,G|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding||c.*604T>G|||||4138|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript||n.*731T>A|||||4720|,C|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript||n.*731T>C|||||4720|,G|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript||n.*731T>G|||||4720|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript||n.*557T>A|||||4208|,C|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript||n.*557T>C|||||4208|,G|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript||n.*557T>G|||||4208|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000479648|retained_intron||n.*574T>A|||||4737|,C|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000479648|retained_intron||n.*574T>C|||||4737|,G|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000479648|retained_intron||n.*574T>G|||||4737|,A|downstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.*3453A>T|||||4125|,C|downstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.*3453A>G|||||4125|,G|downstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.*3453A>C|||||4125|,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|10/10|n.*843T>A||||||,C|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|10/10|n.*843T>C||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|10/10|n.*843T>G||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|10/10|n.*902T>A||||||,C|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|10/10|n.*902T>C||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|10/10|n.*902T>G||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|10/10|n.*847T>A||||||,C|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|10/10|n.*847T>C||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|10/10|n.*847T>G||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|9/9|n.*760T>A||||||,C|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|9/9|n.*760T>C||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|9/9|n.*760T>G||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|11/11|n.*753T>A||||||,C|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|11/11|n.*753T>C||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|11/11|n.*753T>G||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000491612|retained_intron|2/2|n.2645T>A||||||,C|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000491612|retained_intron|2/2|n.2645T>C||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000491612|retained_intron|2/2|n.2645T>G||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485559|retained_intron|3/3|n.2363T>A||||||,C|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485559|retained_intron|3/3|n.2363T>C||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485559|retained_intron|3/3|n.2363T>G||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000470831|retained_intron|2/2|n.1571T>A||||||,C|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000470831|retained_intron|2/2|n.1571T>C||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000470831|retained_intron|2/2|n.1571T>G|||||| 22 46759084 . CCTGATGGTTCAAATTGAAGTTTCATTA C . . ANN=|splice_acceptor_variant&splice_region_variant&intron_variant|HIGH|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|34/34|c.9036-27_9036-1delTAATGAAACTTCAATTTGAACCATCAG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.9036-27_9036-1delTAATGAAACTTCAATTTGAACCATCAG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.9036-27_9036-1delTAATGAAACTTCAATTTGAACCATCAG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.9036-27_9036-1delTAATGAAACTTCAATTTGAACCATCAG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.9036-27_9036-1delTAATGAAACTTCAATTTGAACCATCAG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.9036-27_9036-1delTAATGAAACTTCAATTTGAACCATCAG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.9036-27_9036-1delTAATGAAACTTCAATTTGAACCATCAG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.9036-27_9036-1delTAATGAAACTTCAATTTGAACCATCAG||||||,|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron|3/3|n.1413_1439delTAATGAAACTTCAATTTGAACCATCAG||||||;LOF=(CELSR1|ENSG00000075275|6|0.17) 22 46759901 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|34/35|c.9027C>T|p.Ser3009Ser|9027/11389|9027/9045|3009/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.9027C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.9027C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.9027C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.9027C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.9027C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.9027C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.9027C>T||||||,A|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron|3/3|n.623C>T|||||| 22 46759927 . T C . . ANN=C|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|34/35|c.9001A>G|p.Thr3001Ala|9001/11389|9001/9045|3001/3014||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.9001A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.9001A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.9001A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.9001A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.9001A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.9001A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.9001A>G||||||,C|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron|3/3|n.597A>G|||||| 22 46759934 . A G . . ANN=G|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|34/35|c.8994T>C|p.Asn2998Asn|8994/11389|8994/9045|2998/3014||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8994T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8994T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8994T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8994T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8994T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8994T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8994T>C||||||,G|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron|3/3|n.590T>C|||||| 22 46759940 . G C . . ANN=C|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|34/35|c.8988C>G|p.Ala2996Ala|8988/11389|8988/9045|2996/3014||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8988C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8988C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8988C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8988C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8988C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8988C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8988C>G||||||,C|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron|3/3|n.584C>G|||||| 22 46759949 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|34/35|c.8979C>T|p.Asn2993Asn|8979/11389|8979/9045|2993/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8979C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8979C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8979C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8979C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8979C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8979C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8979C>T||||||,A|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron|3/3|n.575C>T|||||| 22 46759967 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|34/35|c.8961G>A|p.Pro2987Pro|8961/11389|8961/9045|2987/3014||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8961G>A||||||,T|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron|3/3|n.557G>A|||||| 22 46759981 . G C . . ANN=C|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|34/35|c.8947C>G|p.Pro2983Ala|8947/11389|8947/9045|2983/3014||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8947C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8947C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8947C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8947C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8947C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8947C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8947C>G||||||,C|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron|3/3|n.543C>G|||||| 22 46760000 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|34/35|c.8928C>T|p.Cys2976Cys|8928/11389|8928/9045|2976/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8928C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8928C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8928C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8928C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8928C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8928C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8928C>T||||||,A|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron|3/3|n.524C>T|||||| 22 46760006 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|34/35|c.8922C>T|p.Pro2974Pro|8922/11389|8922/9045|2974/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8922C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8922C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8922C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8922C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8922C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8922C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8922C>T||||||,A|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron|3/3|n.518C>T|||||| 22 46760011 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|34/35|c.8917G>A|p.Gly2973Ser|8917/11389|8917/9045|2973/3014||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8917G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8917G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8917G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8917G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8917G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8917G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8917G>A||||||,T|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron|3/3|n.513G>A|||||| 22 46760030 . CGTGCGCGAGGAT C . . ANN=|disruptive_inframe_deletion|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|34/35|c.8886_8897delATCCTCGCGCAC|p.Ser2963_Thr2966del|8897/11389|8886/9045|2962/3014||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8886_8897delATCCTCGCGCAC||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8886_8897delATCCTCGCGCAC||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8886_8897delATCCTCGCGCAC||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8886_8897delATCCTCGCGCAC||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8886_8897delATCCTCGCGCAC||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8886_8897delATCCTCGCGCAC||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8886_8897delATCCTCGCGCAC||||||,|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron|3/3|n.482_493delATCCTCGCGCAC|||||| 22 46760037 . G A . . ANN=A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|34/35|c.8891C>T|p.Ser2964Leu|8891/11389|8891/9045|2964/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8891C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8891C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8891C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8891C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8891C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8891C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8891C>T||||||,A|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron|3/3|n.487C>T|||||| 22 46760065 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|34/35|c.8863G>A|p.Ala2955Thr|8863/11389|8863/9045|2955/3014||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8863G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8863G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8863G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8863G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8863G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8863G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8863G>A||||||,T|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron|3/3|n.459G>A|||||| 22 46760086 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|34/35|c.8842G>A|p.Gly2948Ser|8842/11389|8842/9045|2948/3014||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8842G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8842G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8842G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8842G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8842G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8842G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8842G>A||||||,T|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron|3/3|n.438G>A|||||| 22 46760102 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|34/35|c.8826G>A|p.Thr2942Thr|8826/11389|8826/9045|2942/3014||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8826G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8826G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8826G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8826G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8826G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8826G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8826G>A||||||,T|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron|3/3|n.422G>A|||||| 22 46760121 . G A . . ANN=A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|34/35|c.8807C>T|p.Pro2936Leu|8807/11389|8807/9045|2936/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8807C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8807C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8807C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8807C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8807C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8807C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8807C>T||||||,A|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron|3/3|n.403C>T|||||| 22 46760193 . C T . . ANN=T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8780-45G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8780-45G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8780-45G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8780-45G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8780-45G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8780-45G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8780-45G>A||||||,T|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|33/34|c.8780-45G>A||||||,T|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron|2/2|n.376-45G>A|||||| 22 46760394 . G A . . ANN=A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8779+15C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8779+15C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8779+15C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8779+15C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8779+15C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8779+15C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8779+15C>T||||||,A|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|33/34|c.8779+15C>T||||||,A|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron|2/2|n.375+15C>T|||||| 22 46760416 . C G . . ANN=G|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|33/35|c.8772G>C|p.Gln2924His|8772/11389|8772/9045|2924/3014||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8772G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8772G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8772G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8772G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8772G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8772G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8772G>C||||||,G|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron|2/3|n.368G>C|||||| 22 46760470 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|33/35|c.8718G>A|p.Pro2906Pro|8718/11389|8718/9045|2906/3014||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8718G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8718G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8718G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8718G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8718G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8718G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8718G>A||||||,T|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron|2/3|n.314G>A|||||| 22 46760481 . C G . . ANN=G|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|33/35|c.8707G>C|p.Glu2903Gln|8707/11389|8707/9045|2903/3014||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8707G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8707G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8707G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8707G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8707G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8707G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8707G>C||||||,G|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron|2/3|n.303G>C|||||| 22 46760507 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|33/35|c.8681G>A|p.Arg2894His|8681/11389|8681/9045|2894/3014||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8681G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8681G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8681G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8681G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8681G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8681G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8681G>A||||||,T|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron|2/3|n.277G>A|||||| 22 46760605 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|33/35|c.8583C>T|p.Ala2861Ala|8583/11389|8583/9045|2861/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8583C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8583C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8583C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8583C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8583C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8583C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8583C>T||||||,A|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron|2/3|n.179C>T|||||| 22 46760648 . C T . . ANN=T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8555-15G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8555-15G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8555-15G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8555-15G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8555-15G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8555-15G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8555-15G>A||||||,T|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|32/34|c.8555-15G>A||||||,T|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron|1/2|n.151-15G>A|||||| 22 46760664 . G A . . ANN=A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8555-31C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8555-31C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8555-31C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8555-31C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8555-31C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8555-31C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8555-31C>T||||||,A|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|32/34|c.8555-31C>T||||||,A|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron|1/2|n.151-31C>T|||||| 22 46760665 . C T . . ANN=T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8555-32G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8555-32G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8555-32G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8555-32G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8555-32G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8555-32G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8555-32G>A||||||,T|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|32/34|c.8555-32G>A||||||,T|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron|1/2|n.151-32G>A|||||| 22 46761111 . G A . . ANN=A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8554+17C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8554+17C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8554+17C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8554+17C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8554+17C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8554+17C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8554+17C>T||||||,A|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|32/34|c.8554+17C>T||||||,A|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron|1/2|n.150+17C>T|||||| 22 46761135 . G T . . ANN=T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|32/35|c.8547C>A|p.Thr2849Thr|8547/11389|8547/9045|2849/3014||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8547C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8547C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8547C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8547C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8547C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8547C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8547C>A||||||,T|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron|1/3|n.143C>A|||||| 22 46761147 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|32/35|c.8535C>T|p.Ala2845Ala|8535/11389|8535/9045|2845/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8535C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8535C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8535C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8535C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8535C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8535C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8535C>T||||||,A|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron|1/3|n.131C>T|||||| 22 46761221 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|32/35|c.8461G>A|p.Ala2821Thr|8461/11389|8461/9045|2821/3014||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8461G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8461G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8461G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8461G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8461G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8461G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8461G>A||||||,T|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron|1/3|n.57G>A|||||| 22 46761321 . G A . . ANN=A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8405-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8405-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8405-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8405-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8405-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8405-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8405-44C>T||||||,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.-1C>T|||||44|,A|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|31/34|c.8405-44C>T|||||| 22 46761435 . C T . . ANN=T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8404+48G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8404+48G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8404+48G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8404+48G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8404+48G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8404+48G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8404+48G>A||||||,T|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.-1G>A|||||158|,T|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|31/34|c.8404+48G>A|||||| 22 46761440 . G A . . ANN=A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8404+43C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8404+43C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8404+43C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8404+43C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8404+43C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8404+43C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8404+43C>T||||||,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.-1C>T|||||163|,A|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|31/34|c.8404+43C>T|||||| 22 46761441 . A T . . ANN=T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8404+42T>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8404+42T>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8404+42T>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8404+42T>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8404+42T>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8404+42T>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8404+42T>A||||||,T|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.-1T>A|||||164|,T|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|31/34|c.8404+42T>A|||||| 22 46761454 . G A . . ANN=A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8404+29C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8404+29C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8404+29C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8404+29C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8404+29C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8404+29C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8404+29C>T||||||,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.-1C>T|||||177|,A|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|31/34|c.8404+29C>T|||||| 22 46761455 . G A . . ANN=A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8404+28C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8404+28C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8404+28C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8404+28C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8404+28C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8404+28C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8404+28C>T||||||,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.-1C>T|||||178|,A|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|31/34|c.8404+28C>T|||||| 22 46761497 . C G . . ANN=G|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|31/35|c.8390G>C|p.Cys2797Ser|8390/11389|8390/9045|2797/3014||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8390G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8390G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8390G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8390G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8390G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8390G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8390G>C||||||,G|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.-1G>C|||||220| 22 46761520 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|31/35|c.8367C>T|p.Asp2789Asp|8367/11389|8367/9045|2789/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8367C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8367C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8367C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8367C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8367C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8367C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8367C>T||||||,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.-1C>T|||||243| 22 46761561 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|31/35|c.8326G>A|p.Val2776Met|8326/11389|8326/9045|2776/3014||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8326G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8326G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8326G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8326G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8326G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8326G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8326G>A||||||,T|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.-1G>A|||||284| 22 46761565 . G C . . ANN=C|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|31/35|c.8322C>G|p.Leu2774Leu|8322/11389|8322/9045|2774/3014||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8322C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8322C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8322C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8322C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8322C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8322C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8322C>G||||||,C|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.-1C>G|||||288| 22 46761568 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|31/35|c.8319G>A|p.Lys2773Lys|8319/11389|8319/9045|2773/3014||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8319G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8319G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8319G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8319G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8319G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8319G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8319G>A||||||,T|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.-1G>A|||||291| 22 46761595 . G A . . ANN=A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8301-9C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8301-9C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8301-9C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8301-9C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8301-9C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8301-9C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8301-9C>T||||||,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.-1C>T|||||318|,A|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|30/34|c.8301-9C>T|||||| 22 46761601 . G T . . ANN=T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8301-15C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8301-15C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8301-15C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8301-15C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8301-15C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8301-15C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8301-15C>A||||||,T|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.-1C>A|||||324|,T|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|30/34|c.8301-15C>A|||||| 22 46761623 . G A . . ANN=A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8301-37C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8301-37C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8301-37C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8301-37C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8301-37C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8301-37C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8301-37C>T||||||,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.-1C>T|||||346|,A|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|30/34|c.8301-37C>T|||||| 22 46762260 . C T . . ANN=T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8300+23G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8300+23G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8300+23G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8300+23G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8300+23G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8300+23G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8300+23G>A||||||,T|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.-1G>A|||||983|,T|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|30/34|c.8300+23G>A|||||| 22 46762266 . C T . . ANN=T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8300+17G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8300+17G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8300+17G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8300+17G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8300+17G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8300+17G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8300+17G>A||||||,T|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.-1G>A|||||989|,T|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|30/34|c.8300+17G>A|||||| 22 46762342 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|30/35|c.8241G>A|p.Gly2747Gly|8241/11389|8241/9045|2747/3014||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8241G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8241G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8241G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8241G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8241G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8241G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8241G>A||||||,T|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.-1G>A|||||1065| 22 46762345 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|30/35|c.8238C>T|p.Asp2746Asp|8238/11389|8238/9045|2746/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8238C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8238C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8238C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8238C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8238C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8238C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8238C>T||||||,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.-1C>T|||||1068| 22 46762360 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|30/35|c.8223C>T|p.Asn2741Asn|8223/11389|8223/9045|2741/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8223C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8223C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8223C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8223C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8223C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8223C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8223C>T||||||,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.-1C>T|||||1083| 22 46762854 . A G . . ANN=G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8205+36T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8205+36T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8205+36T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8205+36T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8205+36T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8205+36T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8205+36T>C||||||,G|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.-1T>C|||||1577|,G|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|29/34|c.8205+36T>C|||||| 22 46762855 . G A . . ANN=A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8205+35C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8205+35C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8205+35C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8205+35C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8205+35C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8205+35C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8205+35C>T||||||,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.-1C>T|||||1578|,A|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|29/34|c.8205+35C>T|||||| 22 46762863 . T A . . ANN=A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8205+27A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8205+27A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8205+27A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8205+27A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8205+27A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8205+27A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8205+27A>T||||||,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.-1A>T|||||1586|,A|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|29/34|c.8205+27A>T|||||| 22 46762891 . G A . . ANN=A|missense_variant&splice_region_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|29/35|c.8204C>T|p.Thr2735Met|8204/11389|8204/9045|2735/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8204C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8204C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8204C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8204C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8204C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8204C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8204C>T||||||,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.-1C>T|||||1614|,A|TF_binding_site_variant|MODIFIER|||CTCF|MA0139.1||||||||| 22 46762902 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|29/35|c.8193C>T|p.Ala2731Ala|8193/11389|8193/9045|2731/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8193C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8193C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8193C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8193C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8193C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8193C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8193C>T||||||,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.-1C>T|||||1625| 22 46762970 . G C . . ANN=C|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|29/35|c.8125C>G|p.Arg2709Gly|8125/11389|8125/9045|2709/3014||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8125C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8125C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8125C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8125C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8125C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8125C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8125C>G||||||,C|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.-1C>G|||||1693| 22 46762988 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|29/35|c.8107G>A|p.Val2703Met|8107/11389|8107/9045|2703/3014||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|transmembrane_region:Transmembrane_region|ENST00000262738|protein_coding|28/35|c.8107G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|transmembrane_region:Transmembrane_region|ENST00000262738|protein_coding|29/35|c.8107G>A||||||,T|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.-1G>A|||||1711| 22 46763007 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|29/35|c.8088C>T|p.Phe2696Phe|8088/11389|8088/9045|2696/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|transmembrane_region:Transmembrane_region|ENST00000262738|protein_coding|28/35|c.8088C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|transmembrane_region:Transmembrane_region|ENST00000262738|protein_coding|29/35|c.8088C>T||||||,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.-1C>T|||||1730| 22 46763578 . T C . . ANN=C|sequence_feature|LOW|CELSR1|ENSG00000075275|transmembrane_region:Transmembrane_region|ENST00000262738|protein_coding|28/35|c.8079+48A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|transmembrane_region:Transmembrane_region|ENST00000262738|protein_coding|29/35|c.8079+48A>G||||||,C|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.-1A>G|||||2301|,C|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|28/34|c.8079+48A>G|||||| 22 46763583 . G A . . ANN=A|sequence_feature|LOW|CELSR1|ENSG00000075275|transmembrane_region:Transmembrane_region|ENST00000262738|protein_coding|28/35|c.8079+43C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|transmembrane_region:Transmembrane_region|ENST00000262738|protein_coding|29/35|c.8079+43C>T||||||,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.-1C>T|||||2306|,A|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|28/34|c.8079+43C>T|||||| 22 46763584 . C T . . ANN=T|sequence_feature|LOW|CELSR1|ENSG00000075275|transmembrane_region:Transmembrane_region|ENST00000262738|protein_coding|28/35|c.8079+42G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|transmembrane_region:Transmembrane_region|ENST00000262738|protein_coding|29/35|c.8079+42G>A||||||,T|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.-1G>A|||||2307|,T|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|28/34|c.8079+42G>A|||||| 22 46763665 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|28/35|c.8040G>A|p.Leu2680Leu|8040/11389|8040/9045|2680/3014||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|28/35|c.8040G>A||||||,T|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.-1G>A|||||2388| 22 46763671 . A G . . ANN=G|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|28/35|c.8034T>C|p.Asp2678Asp|8034/11389|8034/9045|2678/3014||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|28/35|c.8034T>C||||||,G|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.-1T>C|||||2394| 22 46763692 . C A . . ANN=A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|28/35|c.8013G>T|p.Gly2671Gly|8013/11389|8013/9045|2671/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|transmembrane_region:Transmembrane_region|ENST00000262738|protein_coding|28/35|c.8013G>T||||||,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.-1G>T|||||2415| 22 46763734 . T C . . ANN=C|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|28/35|c.7971A>G|p.Ala2657Ala|7971/11389|7971/9045|2657/3014||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|transmembrane_region:Transmembrane_region|ENST00000262738|protein_coding|28/35|c.7971A>G||||||,C|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.-1A>G|||||2457| 22 46763757 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|27/34|c.7953-5C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|28/35|c.7953-5C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|27/35|c.7953-5C>T||||||,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.-1C>T|||||2480| 22 46765181 . G GTCAGGTCGCCGAC . . ANN=TCAGGTCGCCGAC|sequence_feature|LOW|CELSR1|ENSG00000075275|transmembrane_region:Transmembrane_region|ENST00000262738|protein_coding|26/35|c.7873-27_7873-26insGTCGGCGACCTGA||||||,TCAGGTCGCCGAC|sequence_feature|LOW|CELSR1|ENSG00000075275|transmembrane_region:Transmembrane_region|ENST00000262738|protein_coding|27/35|c.7873-27_7873-26insGTCGGCGACCTGA||||||,TCAGGTCGCCGAC|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.-1_-1insGTCGGCGACCTGA|||||3905|,TCAGGTCGCCGAC|downstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000468025|processed_transcript||n.*623_*623insGTCGGCGACCTGA|||||3628|,TCAGGTCGCCGAC|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|26/34|c.7873-27_7873-26insGTCGGCGACCTGA|||||| 22 46765577 . C T . . ANN=T|sequence_feature|LOW|CELSR1|ENSG00000075275|transmembrane_region:Transmembrane_region|ENST00000262738|protein_coding|26/35|c.7872+12G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|transmembrane_region:Transmembrane_region|ENST00000262738|protein_coding|27/35|c.7872+12G>A||||||,T|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.-1G>A|||||4300|,T|downstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000468025|processed_transcript||n.*623G>A|||||3233|,T|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|26/34|c.7872+12G>A|||||| 22 46765593 . A G . . ANN=G|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|26/35|c.7868T>C|p.Ile2623Thr|7868/11389|7868/9045|2623/3014||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|transmembrane_region:Transmembrane_region|ENST00000262738|protein_coding|26/35|c.7868T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|transmembrane_region:Transmembrane_region|ENST00000262738|protein_coding|27/35|c.7868T>C||||||,G|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.-1T>C|||||4316|,G|downstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000468025|processed_transcript||n.*623T>C|||||3217| 22 46765713 . G A . . ANN=A|sequence_feature|LOW|CELSR1|ENSG00000075275|transmembrane_region:Transmembrane_region|ENST00000262738|protein_coding|26/35|c.7760-12C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|transmembrane_region:Transmembrane_region|ENST00000262738|protein_coding|25/35|c.7760-12C>T||||||,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.-1C>T|||||4436|,A|downstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000468025|processed_transcript||n.*623C>T|||||3097|,A|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|25/34|c.7760-12C>T|||||| 22 46768767 . T C . . ANN=C|sequence_feature|LOW|CELSR1|ENSG00000075275|transmembrane_region:Transmembrane_region|ENST00000262738|protein_coding|26/35|c.7759+13A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|transmembrane_region:Transmembrane_region|ENST00000262738|protein_coding|25/35|c.7759+13A>G||||||,C|downstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000468025|processed_transcript||n.*623A>G|||||43|,C|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|25/34|c.7759+13A>G|||||| 22 46768810 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|25/35|c.7729G>A|p.Val2577Met|7729/11389|7729/9045|2577/3014||,T|splice_region_variant&non_coding_exon_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000468025|processed_transcript|3/3|n.623G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|transmembrane_region:Transmembrane_region|ENST00000262738|protein_coding|26/35|c.7729G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|transmembrane_region:Transmembrane_region|ENST00000262738|protein_coding|25/35|c.7729G>A|||||| 22 46768811 . G A . . ANN=A|splice_region_variant&non_coding_exon_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000468025|processed_transcript|3/3|n.622C>T||||||,A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|25/35|c.7728C>T|p.Val2576Val|7728/11389|7728/9045|2576/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|transmembrane_region:Transmembrane_region|ENST00000262738|protein_coding|26/35|c.7728C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|transmembrane_region:Transmembrane_region|ENST00000262738|protein_coding|25/35|c.7728C>T|||||| 22 46768889 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|25/35|c.7650C>T|p.Leu2550Leu|7650/11389|7650/9045|2550/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|25/35|c.7650C>T||||||,A|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000468025|processed_transcript|3/3|n.544C>T|||||| 22 46772949 . T A . . ANN=A|sequence_feature|LOW|CELSR1|ENSG00000075275|transmembrane_region:Transmembrane_region|ENST00000262738|protein_coding|24/35|c.7584+9A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|transmembrane_region:Transmembrane_region|ENST00000262738|protein_coding|25/35|c.7584+9A>T||||||,A|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|24/34|c.7584+9A>T||||||,A|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000468025|processed_transcript|2/2|n.478+9A>T|||||| 22 46772958 . C T . . ANN=T|splice_region_variant&synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|24/35|c.7584G>A|p.Pro2528Pro|7584/11389|7584/9045|2528/3014||,T|splice_region_variant&non_coding_exon_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000468025|processed_transcript|2/3|n.478G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|transmembrane_region:Transmembrane_region|ENST00000262738|protein_coding|24/35|c.7584G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|transmembrane_region:Transmembrane_region|ENST00000262738|protein_coding|25/35|c.7584G>A|||||| 22 46772988 . G A,T . . ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|24/35|c.7554C>A|p.Phe2518Leu|7554/11389|7554/9045|2518/3014||,A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|24/35|c.7554C>T|p.Phe2518Phe|7554/11389|7554/9045|2518/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|transmembrane_region:Transmembrane_region|ENST00000262738|protein_coding|24/35|c.7554C>T||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|transmembrane_region:Transmembrane_region|ENST00000262738|protein_coding|24/35|c.7554C>A||||||,A|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000468025|processed_transcript|2/3|n.448C>T||||||,T|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000468025|processed_transcript|2/3|n.448C>A|||||| 22 46773018 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|24/35|c.7524C>T|p.Ala2508Ala|7524/11389|7524/9045|2508/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|transmembrane_region:Transmembrane_region|ENST00000262738|protein_coding|24/35|c.7524C>T||||||,A|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000468025|processed_transcript|2/3|n.418C>T|||||| 22 46773053 . G A . . ANN=A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|24/35|c.7489C>T|p.Arg2497Cys|7489/11389|7489/9045|2497/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|24/35|c.7489C>T||||||,A|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000468025|processed_transcript|2/3|n.383C>T|||||| 22 46773059 . T C . . ANN=C|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|24/35|c.7483A>G|p.Met2495Val|7483/11389|7483/9045|2495/3014||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|24/35|c.7483A>G||||||,C|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000468025|processed_transcript|2/3|n.377A>G|||||| 22 46773120 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|24/35|c.7422C>T|p.Ala2474Ala|7422/11389|7422/9045|2474/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|transmembrane_region:Transmembrane_region|ENST00000262738|protein_coding|24/35|c.7422C>T||||||,A|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000468025|processed_transcript|2/3|n.316C>T|||||| 22 46773124 . T C . . ANN=C|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|24/35|c.7418A>G|p.Tyr2473Cys|7418/11389|7418/9045|2473/3014||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|transmembrane_region:Transmembrane_region|ENST00000262738|protein_coding|24/35|c.7418A>G||||||,C|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000468025|processed_transcript|2/3|n.312A>G|||||| 22 46773128 . T A . . ANN=A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|24/35|c.7414A>T|p.Thr2472Ser|7414/11389|7414/9045|2472/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|transmembrane_region:Transmembrane_region|ENST00000262738|protein_coding|24/35|c.7414A>T||||||,A|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000468025|processed_transcript|2/3|n.308A>T|||||| 22 46773147 . G T . . ANN=T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|24/35|c.7395C>A|p.Val2465Val|7395/11389|7395/9045|2465/3014||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.7395C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.7395C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.7395C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.7395C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.7395C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.7395C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.7395C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.7395C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.7395C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.7395C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.7395C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.7395C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.7395C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.7395C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.7395C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.7395C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.7395C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.7395C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.7395C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.7395C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.7395C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.7395C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.7395C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.7395C>A||||||,T|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000468025|processed_transcript|2/3|n.289C>A|||||| 22 46773156 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|24/35|c.7386C>T|p.Asn2462Asn|7386/11389|7386/9045|2462/3014||,A|splice_region_variant&non_coding_exon_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000468025|processed_transcript|2/3|n.280C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.7386C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.7386C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.7386C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.7386C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.7386C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.7386C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.7386C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.7386C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.7386C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.7386C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.7386C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.7386C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.7386C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.7386C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.7386C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.7386C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.7386C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.7386C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.7386C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.7386C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.7386C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.7386C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.7386C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.7386C>T|||||| 22 46774446 . C G . . ANN=G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.7383+42G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.7383+42G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.7383+42G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.7383+42G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.7383+42G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.7383+42G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.7383+42G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.7383+42G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.7383+42G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.7383+42G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.7383+42G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.7383+42G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.7383+42G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.7383+42G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.7383+42G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.7383+42G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.7383+42G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.7383+42G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.7383+42G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.7383+42G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.7383+42G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.7383+42G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.7383+42G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.7383+42G>C||||||,G|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000468025|processed_transcript||n.-1G>C|||||925|,G|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|23/34|c.7383+42G>C|||||| 22 46774447 . G A . . ANN=A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.7383+41C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.7383+41C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.7383+41C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.7383+41C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.7383+41C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.7383+41C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.7383+41C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.7383+41C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.7383+41C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.7383+41C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.7383+41C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.7383+41C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.7383+41C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.7383+41C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.7383+41C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.7383+41C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.7383+41C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.7383+41C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.7383+41C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.7383+41C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.7383+41C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.7383+41C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.7383+41C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.7383+41C>T||||||,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000468025|processed_transcript||n.-1C>T|||||926|,A|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|23/34|c.7383+41C>T|||||| 22 46774619 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|22/34|c.7257-5C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.7257-5C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.7257-5C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.7257-5C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.7257-5C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.7257-5C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.7257-5C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.7257-5C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.7257-5C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.7257-5C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.7257-5C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.7257-5C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.7257-5C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.7257-5C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.7257-5C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.7257-5C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.7257-5C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.7257-5C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.7257-5C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.7257-5C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.7257-5C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.7257-5C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.7257-5C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.7257-5C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.7257-5C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:GPS|ENST00000262738|protein_coding|23/35|c.7257-5C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:GPS|ENST00000262738|protein_coding|22/35|c.7257-5C>T||||||,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000468025|processed_transcript||n.-1C>T|||||1098| 22 46774624 . G A . . ANN=A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.7257-10C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.7257-10C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.7257-10C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.7257-10C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.7257-10C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.7257-10C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.7257-10C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.7257-10C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.7257-10C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.7257-10C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.7257-10C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.7257-10C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.7257-10C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.7257-10C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.7257-10C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.7257-10C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.7257-10C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.7257-10C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.7257-10C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.7257-10C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.7257-10C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.7257-10C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.7257-10C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.7257-10C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:GPS|ENST00000262738|protein_coding|23/35|c.7257-10C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:GPS|ENST00000262738|protein_coding|22/35|c.7257-10C>T||||||,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000468025|processed_transcript||n.-1C>T|||||1103|,A|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|22/34|c.7257-10C>T|||||| 22 46774649 . C T . . ANN=T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.7257-35G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.7257-35G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.7257-35G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.7257-35G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.7257-35G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.7257-35G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.7257-35G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.7257-35G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.7257-35G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.7257-35G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.7257-35G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.7257-35G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.7257-35G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.7257-35G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.7257-35G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.7257-35G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.7257-35G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.7257-35G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.7257-35G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.7257-35G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.7257-35G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.7257-35G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.7257-35G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.7257-35G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:GPS|ENST00000262738|protein_coding|23/35|c.7257-35G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:GPS|ENST00000262738|protein_coding|22/35|c.7257-35G>A||||||,T|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000468025|processed_transcript||n.-1G>A|||||1128|,T|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|22/34|c.7257-35G>A|||||| 22 46776707 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|22/35|c.7234G>A|p.Val2412Met|7234/11389|7234/9045|2412/3014||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.7234G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.7234G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.7234G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.7234G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.7234G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.7234G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.7234G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.7234G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.7234G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.7234G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.7234G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.7234G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.7234G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.7234G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.7234G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.7234G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.7234G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.7234G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.7234G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.7234G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.7234G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.7234G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.7234G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.7234G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:GPS|ENST00000262738|protein_coding|23/35|c.7234G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:GPS|ENST00000262738|protein_coding|22/35|c.7234G>A||||||,T|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000468025|processed_transcript||n.-1G>A|||||3186| 22 46776747 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|22/35|c.7194C>T|p.Phe2398Phe|7194/11389|7194/9045|2398/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.7194C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.7194C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.7194C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.7194C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.7194C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.7194C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.7194C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.7194C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.7194C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.7194C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.7194C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.7194C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.7194C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.7194C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.7194C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.7194C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.7194C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.7194C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.7194C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.7194C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.7194C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.7194C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.7194C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.7194C>T||||||,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000468025|processed_transcript||n.-1C>T|||||3226| 22 46776762 . G T . . ANN=T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|22/35|c.7179C>A|p.Pro2393Pro|7179/11389|7179/9045|2393/3014||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.7179C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.7179C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.7179C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.7179C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.7179C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.7179C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.7179C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.7179C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.7179C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.7179C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.7179C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.7179C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.7179C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.7179C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.7179C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.7179C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.7179C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.7179C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.7179C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.7179C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.7179C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.7179C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.7179C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.7179C>A||||||,T|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000468025|processed_transcript||n.-1C>A|||||3241| 22 46776787 . G A . . ANN=A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|22/35|c.7154C>T|p.Pro2385Leu|7154/11389|7154/9045|2385/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.7154C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.7154C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.7154C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.7154C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.7154C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.7154C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.7154C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.7154C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.7154C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.7154C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.7154C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.7154C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.7154C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.7154C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.7154C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.7154C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.7154C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.7154C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.7154C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.7154C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.7154C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.7154C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.7154C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.7154C>T||||||,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000468025|processed_transcript||n.-1C>T|||||3266| 22 46776841 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|22/35|c.7100G>A|p.Arg2367Gln|7100/11389|7100/9045|2367/3014||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.7100G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.7100G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.7100G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.7100G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.7100G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.7100G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.7100G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.7100G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.7100G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.7100G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.7100G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.7100G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.7100G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.7100G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.7100G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.7100G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.7100G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.7100G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.7100G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.7100G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.7100G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.7100G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.7100G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.7100G>A||||||,T|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000468025|processed_transcript||n.-1G>A|||||3320| 22 46776861 . A G . . ANN=G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.7089-9T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.7089-9T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.7089-9T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.7089-9T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.7089-9T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.7089-9T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.7089-9T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.7089-9T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.7089-9T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.7089-9T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.7089-9T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.7089-9T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.7089-9T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.7089-9T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.7089-9T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.7089-9T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.7089-9T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.7089-9T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.7089-9T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.7089-9T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.7089-9T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.7089-9T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.7089-9T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.7089-9T>C||||||,G|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000468025|processed_transcript||n.-1T>C|||||3340|,G|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|21/34|c.7089-9T>C|||||| 22 46777719 . G A . . ANN=A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.7088+24C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.7088+24C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.7088+24C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.7088+24C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.7088+24C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.7088+24C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.7088+24C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.7088+24C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.7088+24C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.7088+24C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.7088+24C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.7088+24C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.7088+24C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.7088+24C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.7088+24C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.7088+24C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.7088+24C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.7088+24C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.7088+24C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.7088+24C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.7088+24C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.7088+24C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.7088+24C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.7088+24C>T||||||,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000468025|processed_transcript||n.-1C>T|||||4198|,A|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|21/34|c.7088+24C>T|||||| 22 46777817 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|21/35|c.7014C>T|p.Val2338Val|7014/11389|7014/9045|2338/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.7014C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.7014C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.7014C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.7014C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.7014C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.7014C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.7014C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.7014C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.7014C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.7014C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.7014C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.7014C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.7014C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.7014C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.7014C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.7014C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.7014C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.7014C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.7014C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.7014C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.7014C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.7014C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.7014C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.7014C>T||||||,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000468025|processed_transcript||n.-1C>T|||||4296| 22 46777841 . A G . . ANN=G|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|21/35|c.6990T>C|p.Pro2330Pro|6990/11389|6990/9045|2330/3014||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6990T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6990T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6990T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6990T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6990T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6990T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6990T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6990T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6990T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6990T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6990T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6990T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6990T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6990T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6990T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6990T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6990T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6990T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6990T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6990T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6990T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6990T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6990T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6990T>C||||||,G|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000468025|processed_transcript||n.-1T>C|||||4320| 22 46777880 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|21/35|c.6951C>T|p.Thr2317Thr|6951/11389|6951/9045|2317/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6951C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6951C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6951C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6951C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6951C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6951C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6951C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6951C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6951C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6951C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6951C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6951C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6951C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6951C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6951C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6951C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6951C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6951C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6951C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6951C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6951C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6951C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6951C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6951C>T||||||,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000468025|processed_transcript||n.-1C>T|||||4359| 22 46777892 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|21/35|c.6939G>A|p.Pro2313Pro|6939/11389|6939/9045|2313/3014||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6939G>A||||||,T|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000468025|processed_transcript||n.-1G>A|||||4371| 22 46777896 . C G . . ANN=G|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|21/35|c.6935G>C|p.Arg2312Pro|6935/11389|6935/9045|2312/3014||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6935G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6935G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6935G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6935G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6935G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6935G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6935G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6935G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6935G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6935G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6935G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6935G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6935G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6935G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6935G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6935G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6935G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6935G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6935G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6935G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6935G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6935G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6935G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6935G>C||||||,G|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000468025|processed_transcript||n.-1G>C|||||4375| 22 46777928 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|21/35|c.6903G>A|p.Pro2301Pro|6903/11389|6903/9045|2301/3014||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6903G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6903G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6903G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6903G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6903G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6903G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6903G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6903G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6903G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6903G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6903G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6903G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6903G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6903G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6903G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6903G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6903G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6903G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6903G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6903G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6903G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6903G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6903G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6903G>A||||||,T|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000468025|processed_transcript||n.-1G>A|||||4407| 22 46780413 . C T . . ANN=T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6883+27G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6883+27G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6883+27G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6883+27G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6883+27G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6883+27G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6883+27G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6883+27G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6883+27G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6883+27G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6883+27G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6883+27G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6883+27G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6883+27G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6883+27G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6883+27G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6883+27G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6883+27G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6883+27G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6883+27G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6883+27G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6883+27G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6883+27G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6883+27G>A||||||,T|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|20/34|c.6883+27G>A|||||| 22 46780426 . C T . . ANN=T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6883+14G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6883+14G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6883+14G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6883+14G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6883+14G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6883+14G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6883+14G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6883+14G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6883+14G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6883+14G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6883+14G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6883+14G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6883+14G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6883+14G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6883+14G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6883+14G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6883+14G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6883+14G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6883+14G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6883+14G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6883+14G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6883+14G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6883+14G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6883+14G>A||||||,T|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|20/34|c.6883+14G>A|||||| 22 46780432 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|20/34|c.6883+8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6883+8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6883+8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6883+8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6883+8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6883+8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6883+8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6883+8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6883+8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6883+8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6883+8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6883+8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6883+8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6883+8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6883+8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6883+8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6883+8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6883+8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6883+8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6883+8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6883+8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6883+8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6883+8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6883+8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6883+8C>T|||||| 22 46780446 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|20/35|c.6877G>A|p.Glu2293Lys|6877/11389|6877/9045|2293/3014||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6877G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6877G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6877G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6877G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6877G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6877G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6877G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6877G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6877G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6877G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6877G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6877G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6877G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6877G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6877G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6877G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6877G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6877G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6877G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6877G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6877G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6877G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6877G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6877G>A|||||| 22 46780465 . G C . . ANN=C|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|20/35|c.6858C>G|p.Asp2286Glu|6858/11389|6858/9045|2286/3014||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6858C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6858C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6858C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6858C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6858C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6858C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6858C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6858C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6858C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6858C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6858C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6858C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6858C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6858C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6858C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6858C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6858C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6858C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6858C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6858C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6858C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6858C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6858C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6858C>G|||||| 22 46780477 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|20/35|c.6846C>T|p.Ser2282Ser|6846/11389|6846/9045|2282/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6846C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6846C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6846C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6846C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6846C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6846C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6846C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6846C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6846C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6846C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6846C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6846C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6846C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6846C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6846C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6846C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6846C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6846C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6846C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6846C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6846C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6846C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6846C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6846C>T|||||| 22 46780521 . T C . . ANN=C|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|20/35|c.6802A>G|p.Thr2268Ala|6802/11389|6802/9045|2268/3014||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6802A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6802A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6802A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6802A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6802A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6802A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6802A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6802A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6802A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6802A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6802A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6802A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6802A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6802A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6802A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6802A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6802A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6802A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6802A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6802A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6802A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6802A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6802A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6802A>G|||||| 22 46780531 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|20/35|c.6792G>A|p.Pro2264Pro|6792/11389|6792/9045|2264/3014||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6792G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6792G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6792G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6792G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6792G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6792G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6792G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6792G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6792G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6792G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6792G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6792G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6792G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6792G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6792G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6792G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6792G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6792G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6792G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6792G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6792G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6792G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6792G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6792G>A|||||| 22 46780552 . G C . . ANN=C|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|20/35|c.6771C>G|p.Asn2257Lys|6771/11389|6771/9045|2257/3014||,C|sequence_feature|MODERATE|CELSR1|ENSG00000075275|glycosylation_site:N-linked__GlcNAc..._|ENST00000262738|protein_coding|20/35|c.6771C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6771C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6771C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6771C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6771C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6771C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6771C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6771C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6771C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6771C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6771C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6771C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6771C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6771C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6771C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6771C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6771C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6771C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6771C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6771C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6771C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6771C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6771C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6771C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6771C>G|||||| 22 46780573 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|20/35|c.6750C>T|p.Val2250Val|6750/11389|6750/9045|2250/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6750C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6750C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6750C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6750C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6750C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6750C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6750C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6750C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6750C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6750C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6750C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6750C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6750C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6750C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6750C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6750C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6750C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6750C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6750C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6750C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6750C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6750C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6750C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6750C>T|||||| 22 46780621 . G C . . ANN=C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6740-38C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6740-38C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6740-38C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6740-38C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6740-38C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6740-38C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6740-38C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6740-38C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6740-38C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6740-38C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6740-38C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6740-38C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6740-38C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6740-38C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6740-38C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6740-38C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6740-38C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6740-38C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6740-38C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6740-38C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6740-38C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6740-38C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6740-38C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6740-38C>G||||||,C|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|19/34|c.6740-38C>G|||||| 22 46782249 . A G . . ANN=G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6739+50T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6739+50T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6739+50T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6739+50T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6739+50T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6739+50T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6739+50T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6739+50T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6739+50T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6739+50T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6739+50T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6739+50T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6739+50T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6739+50T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6739+50T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6739+50T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6739+50T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6739+50T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6739+50T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6739+50T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6739+50T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6739+50T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6739+50T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6739+50T>C||||||,G|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|19/34|c.6739+50T>C|||||| 22 46782283 . G A . . ANN=A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6739+16C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6739+16C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6739+16C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6739+16C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6739+16C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6739+16C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6739+16C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6739+16C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6739+16C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6739+16C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6739+16C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6739+16C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6739+16C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6739+16C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6739+16C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6739+16C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6739+16C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6739+16C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6739+16C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6739+16C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6739+16C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6739+16C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6739+16C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6739+16C>T||||||,A|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|19/34|c.6739+16C>T|||||| 22 46782291 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|19/34|c.6739+8G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6739+8G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6739+8G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6739+8G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6739+8G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6739+8G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6739+8G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6739+8G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6739+8G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6739+8G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6739+8G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6739+8G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6739+8G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6739+8G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6739+8G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6739+8G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6739+8G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6739+8G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6739+8G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6739+8G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6739+8G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6739+8G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6739+8G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6739+8G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6739+8G>A|||||| 22 46782327 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|19/35|c.6711G>A|p.Arg2237Arg|6711/11389|6711/9045|2237/3014||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6711G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6711G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6711G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6711G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6711G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6711G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6711G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6711G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6711G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6711G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6711G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6711G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6711G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6711G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6711G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6711G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6711G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6711G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6711G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6711G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6711G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6711G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6711G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6711G>A|||||| 22 46782336 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|19/35|c.6702G>A|p.Thr2234Thr|6702/11389|6702/9045|2234/3014||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6702G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6702G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6702G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6702G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6702G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6702G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6702G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6702G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6702G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6702G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6702G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6702G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6702G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6702G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6702G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6702G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6702G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6702G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6702G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6702G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6702G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6702G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6702G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6702G>A|||||| 22 46782340 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|19/35|c.6698G>A|p.Arg2233Gln|6698/11389|6698/9045|2233/3014||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6698G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6698G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6698G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6698G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6698G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6698G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6698G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6698G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6698G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6698G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6698G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6698G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6698G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6698G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6698G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6698G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6698G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6698G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6698G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6698G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6698G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6698G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6698G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6698G>A|||||| 22 46782382 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|19/35|c.6656G>A|p.Arg2219His|6656/11389|6656/9045|2219/3014||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6656G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6656G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6656G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6656G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6656G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6656G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6656G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6656G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6656G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6656G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6656G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6656G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6656G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6656G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6656G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6656G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6656G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6656G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6656G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6656G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6656G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6656G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6656G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6656G>A|||||| 22 46782461 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|19/35|c.6577G>A|p.Ala2193Thr|6577/11389|6577/9045|2193/3014||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6577G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6577G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6577G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6577G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6577G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6577G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6577G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6577G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6577G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6577G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6577G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6577G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6577G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6577G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6577G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6577G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6577G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6577G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6577G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6577G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6577G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6577G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6577G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6577G>A|||||| 22 46782462 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|19/35|c.6576C>T|p.Ser2192Ser|6576/11389|6576/9045|2192/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6576C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6576C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6576C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6576C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6576C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6576C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6576C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6576C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6576C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6576C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6576C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6576C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6576C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6576C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6576C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6576C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6576C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6576C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6576C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6576C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6576C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6576C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6576C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6576C>T|||||| 22 46782531 . G A . . ANN=A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6556-49C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6556-49C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6556-49C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6556-49C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6556-49C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6556-49C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6556-49C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6556-49C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6556-49C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6556-49C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6556-49C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6556-49C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6556-49C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6556-49C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6556-49C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6556-49C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6556-49C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6556-49C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6556-49C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6556-49C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6556-49C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6556-49C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6556-49C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6556-49C>T||||||,A|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|18/34|c.6556-49C>T|||||| 22 46785139 . C T . . ANN=T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6555+48G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6555+48G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6555+48G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6555+48G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6555+48G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6555+48G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6555+48G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6555+48G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6555+48G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6555+48G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6555+48G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6555+48G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6555+48G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6555+48G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6555+48G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6555+48G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6555+48G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6555+48G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6555+48G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6555+48G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6555+48G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6555+48G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6555+48G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6555+48G>A||||||,T|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|18/34|c.6555+48G>A|||||| 22 46785140 . G A . . ANN=A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6555+47C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6555+47C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6555+47C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6555+47C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6555+47C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6555+47C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6555+47C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6555+47C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6555+47C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6555+47C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6555+47C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6555+47C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6555+47C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6555+47C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6555+47C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6555+47C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6555+47C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6555+47C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6555+47C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6555+47C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6555+47C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6555+47C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6555+47C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6555+47C>T||||||,A|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|18/34|c.6555+47C>T|||||| 22 46785145 . TC T . . ANN=|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6555+41delG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6555+41delG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6555+41delG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6555+41delG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6555+41delG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6555+41delG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6555+41delG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6555+41delG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6555+41delG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6555+41delG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6555+41delG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6555+41delG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6555+41delG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6555+41delG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6555+41delG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6555+41delG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6555+41delG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6555+41delG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6555+41delG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6555+41delG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6555+41delG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6555+41delG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6555+41delG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6555+41delG||||||,|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|18/34|c.6555+41delG|||||| 22 46785169 . T C . . ANN=C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6555+18A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6555+18A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6555+18A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6555+18A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6555+18A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6555+18A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6555+18A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6555+18A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6555+18A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6555+18A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6555+18A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6555+18A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6555+18A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6555+18A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6555+18A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6555+18A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6555+18A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6555+18A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6555+18A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6555+18A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6555+18A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6555+18A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6555+18A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6555+18A>G||||||,C|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|18/34|c.6555+18A>G|||||| 22 46785201 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|18/35|c.6541G>A|p.Ala2181Thr|6541/11389|6541/9045|2181/3014||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6541G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6541G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6541G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6541G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6541G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6541G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6541G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6541G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6541G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6541G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6541G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6541G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6541G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6541G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6541G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6541G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6541G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6541G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6541G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6541G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6541G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6541G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6541G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6541G>A|||||| 22 46785202 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|18/35|c.6540C>T|p.Asp2180Asp|6540/11389|6540/9045|2180/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6540C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6540C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6540C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6540C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6540C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6540C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6540C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6540C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6540C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6540C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6540C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6540C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6540C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6540C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6540C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6540C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6540C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6540C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6540C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6540C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6540C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6540C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6540C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6540C>T|||||| 22 46785286 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|18/35|c.6456C>T|p.Asp2152Asp|6456/11389|6456/9045|2152/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6456C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6456C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6456C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6456C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6456C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6456C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6456C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6456C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6456C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6456C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6456C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6456C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6456C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6456C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6456C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6456C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6456C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6456C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6456C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6456C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6456C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6456C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6456C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6456C>T|||||| 22 46785301 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|18/35|c.6441G>A|p.Thr2147Thr|6441/11389|6441/9045|2147/3014||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6441G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6441G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6441G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6441G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6441G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6441G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6441G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6441G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6441G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6441G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6441G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6441G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6441G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6441G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6441G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6441G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6441G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6441G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6441G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6441G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6441G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6441G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6441G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6441G>A|||||| 22 46785302 . G T . . ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|18/35|c.6440C>A|p.Thr2147Lys|6440/11389|6440/9045|2147/3014||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6440C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6440C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6440C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6440C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6440C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6440C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6440C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6440C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6440C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6440C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6440C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6440C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6440C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6440C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6440C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6440C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6440C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6440C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6440C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6440C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6440C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6440C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6440C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6440C>A|||||| 22 46785308 . G A . . ANN=A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|18/35|c.6434C>T|p.Thr2145Met|6434/11389|6434/9045|2145/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6434C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6434C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6434C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6434C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6434C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6434C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6434C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6434C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6434C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6434C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6434C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6434C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6434C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6434C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6434C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6434C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6434C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6434C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6434C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6434C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6434C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6434C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6434C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6434C>T|||||| 22 46785331 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|18/35|c.6411G>A|p.Ala2137Ala|6411/11389|6411/9045|2137/3014||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6411G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6411G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6411G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6411G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6411G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6411G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6411G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6411G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6411G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6411G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6411G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6411G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6411G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6411G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6411G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6411G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6411G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6411G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6411G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6411G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6411G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6411G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6411G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6411G>A|||||| 22 46785370 . C A . . ANN=A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|18/35|c.6372G>T|p.Thr2124Thr|6372/11389|6372/9045|2124/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6372G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6372G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6372G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6372G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6372G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6372G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6372G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6372G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6372G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6372G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6372G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6372G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6372G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6372G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6372G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6372G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6372G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6372G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6372G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6372G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6372G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6372G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6372G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6372G>T|||||| 22 46785376 . A G . . ANN=G|sequence_feature|MODERATE|CELSR1|ENSG00000075275|glycosylation_site:N-linked__GlcNAc..._|ENST00000262738|protein_coding|18/35|c.6366T>C||||||,G|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|18/35|c.6366T>C|p.Asn2122Asn|6366/11389|6366/9045|2122/3014||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6366T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6366T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6366T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6366T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6366T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6366T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6366T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6366T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6366T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6366T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6366T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6366T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6366T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6366T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6366T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6366T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6366T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6366T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6366T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6366T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6366T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6366T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6366T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6366T>C|||||| 22 46785417 . T C . . ANN=C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6346-21A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6346-21A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6346-21A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6346-21A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6346-21A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6346-21A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6346-21A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6346-21A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6346-21A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6346-21A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6346-21A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6346-21A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6346-21A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6346-21A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6346-21A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6346-21A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6346-21A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6346-21A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6346-21A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6346-21A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6346-21A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6346-21A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6346-21A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6346-21A>G||||||,C|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|17/34|c.6346-21A>G|||||| 22 46785418 . G A . . ANN=A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6346-22C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6346-22C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6346-22C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6346-22C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6346-22C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6346-22C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6346-22C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6346-22C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6346-22C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6346-22C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6346-22C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6346-22C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6346-22C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6346-22C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6346-22C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6346-22C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6346-22C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6346-22C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6346-22C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6346-22C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6346-22C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6346-22C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6346-22C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6346-22C>T||||||,A|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|17/34|c.6346-22C>T|||||| 22 46785432 . C G . . ANN=G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6346-36G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6346-36G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6346-36G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6346-36G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6346-36G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6346-36G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6346-36G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6346-36G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6346-36G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6346-36G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6346-36G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6346-36G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6346-36G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6346-36G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6346-36G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6346-36G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6346-36G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6346-36G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6346-36G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6346-36G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6346-36G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6346-36G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6346-36G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6346-36G>C||||||,G|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|17/34|c.6346-36G>C|||||| 22 46786261 . T C . . ANN=C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6345+28A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6345+28A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6345+28A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6345+28A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6345+28A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6345+28A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6345+28A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6345+28A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6345+28A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6345+28A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6345+28A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6345+28A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6345+28A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6345+28A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6345+28A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6345+28A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6345+28A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6345+28A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6345+28A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6345+28A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6345+28A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6345+28A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6345+28A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6345+28A>G||||||,C|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|17/34|c.6345+28A>G|||||| 22 46786263 . AAC A . . ANN=|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6345+24_6345+25delGT||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6345+24_6345+25delGT||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6345+24_6345+25delGT||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6345+24_6345+25delGT||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6345+24_6345+25delGT||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6345+24_6345+25delGT||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6345+24_6345+25delGT||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6345+24_6345+25delGT||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6345+24_6345+25delGT||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6345+24_6345+25delGT||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6345+24_6345+25delGT||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6345+24_6345+25delGT||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6345+24_6345+25delGT||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6345+24_6345+25delGT||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6345+24_6345+25delGT||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6345+24_6345+25delGT||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6345+24_6345+25delGT||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6345+24_6345+25delGT||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6345+24_6345+25delGT||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6345+24_6345+25delGT||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6345+24_6345+25delGT||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6345+24_6345+25delGT||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6345+24_6345+25delGT||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6345+24_6345+25delGT||||||,|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|17/34|c.6345+24_6345+25delGT|||||| 22 46786275 . C T . . ANN=T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6345+14G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6345+14G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6345+14G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6345+14G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6345+14G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6345+14G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6345+14G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6345+14G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6345+14G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6345+14G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6345+14G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6345+14G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6345+14G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6345+14G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6345+14G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6345+14G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6345+14G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6345+14G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6345+14G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6345+14G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6345+14G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6345+14G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6345+14G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6345+14G>A||||||,T|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|17/34|c.6345+14G>A|||||| 22 46786281 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|17/34|c.6345+8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6345+8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6345+8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6345+8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6345+8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6345+8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6345+8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6345+8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6345+8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6345+8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6345+8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6345+8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6345+8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6345+8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6345+8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6345+8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6345+8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6345+8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6345+8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6345+8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6345+8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6345+8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6345+8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6345+8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6345+8C>T|||||| 22 46786315 . T C . . ANN=C|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|17/35|c.6319A>G|p.Ile2107Val|6319/11389|6319/9045|2107/3014||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6319A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6319A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6319A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6319A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6319A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6319A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6319A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6319A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6319A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6319A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6319A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6319A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6319A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6319A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6319A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6319A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6319A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6319A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6319A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6319A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6319A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6319A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6319A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6319A>G|||||| 22 46787086 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|16/35|c.6247G>A|p.Val2083Ile|6247/11389|6247/9045|2083/3014||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6247G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6247G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6247G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6247G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6247G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6247G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6247G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6247G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6247G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6247G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6247G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6247G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6247G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6247G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6247G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6247G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6247G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6247G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6247G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6247G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6247G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6247G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6247G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6247G>A|||||| 22 46787480 . C A . . ANN=A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6148+50G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6148+50G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6148+50G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6148+50G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6148+50G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6148+50G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6148+50G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6148+50G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6148+50G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6148+50G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6148+50G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6148+50G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6148+50G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6148+50G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6148+50G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6148+50G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6148+50G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6148+50G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6148+50G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6148+50G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6148+50G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6148+50G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6148+50G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6148+50G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_EGF-like|ENST00000262738|protein_coding|15/35|c.6148+50G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_EGF-like|ENST00000262738|protein_coding|16/35|c.6148+50G>T||||||,A|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|15/34|c.6148+50G>T|||||| 22 46787544 . G A . . ANN=A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|15/35|c.6134C>T|p.Thr2045Met|6134/11389|6134/9045|2045/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_EGF-like|ENST00000262738|protein_coding|15/35|c.6134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_EGF-like|ENST00000262738|protein_coding|16/35|c.6134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|15/35|c.6134C>T|||||| 22 46787570 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|15/35|c.6108C>T|p.Cys2036Cys|6108/11389|6108/9045|2036/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6108C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6108C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6108C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6108C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6108C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6108C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6108C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6108C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6108C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6108C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6108C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6108C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6108C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6108C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6108C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6108C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6108C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6108C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6108C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6108C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6108C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6108C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6108C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6108C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_EGF-like|ENST00000262738|protein_coding|15/35|c.6108C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_EGF-like|ENST00000262738|protein_coding|16/35|c.6108C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|15/35|c.6108C>T|||||| 22 46787600 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|15/35|c.6078C>T|p.Pro2026Pro|6078/11389|6078/9045|2026/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6078C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6078C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6078C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6078C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6078C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6078C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6078C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6078C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6078C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6078C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6078C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6078C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6078C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6078C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6078C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6078C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6078C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6078C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6078C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6078C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6078C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6078C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6078C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6078C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_EGF-like|ENST00000262738|protein_coding|15/35|c.6078C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_EGF-like|ENST00000262738|protein_coding|16/35|c.6078C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|15/35|c.6078C>T|||||| 22 46787694 . A G . . ANN=G|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|15/35|c.5984T>C|p.Leu1995Pro|5984/11389|5984/9045|1995/3014||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.5984T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.5984T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.5984T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.5984T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.5984T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.5984T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.5984T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.5984T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.5984T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.5984T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.5984T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.5984T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.5984T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.5984T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.5984T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.5984T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.5984T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.5984T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.5984T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.5984T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.5984T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.5984T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.5984T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.5984T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_8|ENST00000262738|protein_coding|15/35|c.5984T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_8|ENST00000262738|protein_coding|14/35|c.5984T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|15/35|c.5984T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|14/35|c.5984T>C|||||| 22 46787697 . A G . . ANN=G|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|15/35|c.5981T>C|p.Leu1994Pro|5981/11389|5981/9045|1994/3014||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.5981T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.5981T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.5981T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.5981T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.5981T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.5981T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.5981T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.5981T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.5981T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.5981T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.5981T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.5981T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.5981T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.5981T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.5981T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.5981T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.5981T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.5981T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.5981T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.5981T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.5981T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.5981T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.5981T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.5981T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_8|ENST00000262738|protein_coding|15/35|c.5981T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_8|ENST00000262738|protein_coding|14/35|c.5981T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|15/35|c.5981T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|14/35|c.5981T>C|||||| 22 46787753 . C T . . ANN=T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.5965-40G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.5965-40G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.5965-40G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.5965-40G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.5965-40G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.5965-40G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.5965-40G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.5965-40G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.5965-40G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.5965-40G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.5965-40G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.5965-40G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.5965-40G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.5965-40G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.5965-40G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.5965-40G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.5965-40G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.5965-40G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.5965-40G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.5965-40G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.5965-40G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.5965-40G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.5965-40G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.5965-40G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_8|ENST00000262738|protein_coding|15/35|c.5965-40G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_8|ENST00000262738|protein_coding|14/35|c.5965-40G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|15/35|c.5965-40G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|14/35|c.5965-40G>A||||||,T|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|14/34|c.5965-40G>A|||||| 22 46790007 . A G . . ANN=G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.5964+32T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.5964+32T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.5964+32T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.5964+32T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.5964+32T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.5964+32T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.5964+32T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.5964+32T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.5964+32T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.5964+32T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.5964+32T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.5964+32T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.5964+32T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.5964+32T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.5964+32T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.5964+32T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.5964+32T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.5964+32T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.5964+32T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.5964+32T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.5964+32T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.5964+32T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.5964+32T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.5964+32T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_8|ENST00000262738|protein_coding|15/35|c.5964+32T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_8|ENST00000262738|protein_coding|14/35|c.5964+32T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|15/35|c.5964+32T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|14/35|c.5964+32T>C||||||,G|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|14/34|c.5964+32T>C|||||| 22 46790029 . G T . . ANN=T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.5964+10C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.5964+10C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.5964+10C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.5964+10C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.5964+10C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.5964+10C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.5964+10C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.5964+10C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.5964+10C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.5964+10C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.5964+10C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.5964+10C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.5964+10C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.5964+10C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.5964+10C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.5964+10C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.5964+10C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.5964+10C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.5964+10C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.5964+10C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.5964+10C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.5964+10C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.5964+10C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.5964+10C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_8|ENST00000262738|protein_coding|15/35|c.5964+10C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_8|ENST00000262738|protein_coding|14/35|c.5964+10C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|15/35|c.5964+10C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|14/35|c.5964+10C>A||||||,T|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|14/34|c.5964+10C>A|||||| 22 46790142 . G A . . ANN=A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|14/35|c.5861C>T|p.Pro1954Leu|5861/11389|5861/9045|1954/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.5861C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.5861C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.5861C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.5861C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.5861C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.5861C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.5861C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.5861C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.5861C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.5861C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.5861C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.5861C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.5861C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.5861C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.5861C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.5861C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.5861C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.5861C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.5861C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.5861C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.5861C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.5861C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.5861C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.5861C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_7|ENST00000262738|protein_coding|14/35|c.5861C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_7|ENST00000262738|protein_coding|13/35|c.5861C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|14/35|c.5861C>T|||||| 22 46790147 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|14/35|c.5856G>A|p.Pro1952Pro|5856/11389|5856/9045|1952/3014||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.5856G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.5856G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.5856G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.5856G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.5856G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.5856G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.5856G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.5856G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.5856G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.5856G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.5856G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.5856G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.5856G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.5856G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.5856G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.5856G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.5856G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.5856G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.5856G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.5856G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.5856G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.5856G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.5856G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.5856G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_7|ENST00000262738|protein_coding|14/35|c.5856G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_7|ENST00000262738|protein_coding|13/35|c.5856G>A|||||| 22 46790156 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|14/35|c.5847C>T|p.Leu1949Leu|5847/11389|5847/9045|1949/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.5847C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.5847C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.5847C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.5847C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.5847C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.5847C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.5847C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.5847C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.5847C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.5847C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.5847C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.5847C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.5847C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.5847C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.5847C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.5847C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.5847C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.5847C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.5847C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.5847C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.5847C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.5847C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.5847C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.5847C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_7|ENST00000262738|protein_coding|14/35|c.5847C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_7|ENST00000262738|protein_coding|13/35|c.5847C>T|||||| 22 46790159 . T C . . ANN=C|splice_region_variant&synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|14/35|c.5844A>G|p.Lys1948Lys|5844/11389|5844/9045|1948/3014||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.5844A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.5844A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.5844A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.5844A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.5844A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.5844A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.5844A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.5844A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.5844A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.5844A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.5844A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.5844A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.5844A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.5844A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.5844A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.5844A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.5844A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.5844A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.5844A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.5844A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.5844A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.5844A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.5844A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.5844A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_7|ENST00000262738|protein_coding|14/35|c.5844A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_7|ENST00000262738|protein_coding|13/35|c.5844A>G|||||| 22 46790182 . G T . . ANN=T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.5844-23C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.5844-23C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.5844-23C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.5844-23C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.5844-23C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.5844-23C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.5844-23C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.5844-23C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.5844-23C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.5844-23C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.5844-23C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.5844-23C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.5844-23C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.5844-23C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.5844-23C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.5844-23C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.5844-23C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.5844-23C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.5844-23C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.5844-23C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.5844-23C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.5844-23C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.5844-23C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.5844-23C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_7|ENST00000262738|protein_coding|14/35|c.5844-23C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_7|ENST00000262738|protein_coding|13/35|c.5844-23C>A||||||,T|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|13/34|c.5844-23C>A|||||| 22 46792460 . T A . . ANN=A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.5843+42A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.5843+42A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.5843+42A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.5843+42A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.5843+42A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.5843+42A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.5843+42A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.5843+42A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.5843+42A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.5843+42A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.5843+42A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.5843+42A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.5843+42A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.5843+42A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.5843+42A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.5843+42A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.5843+42A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.5843+42A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.5843+42A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.5843+42A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.5843+42A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.5843+42A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.5843+42A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.5843+42A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_7|ENST00000262738|protein_coding|14/35|c.5843+42A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_7|ENST00000262738|protein_coding|13/35|c.5843+42A>T||||||,A|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|13/34|c.5843+42A>T|||||| 22 46792689 . C A . . ANN=A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.5702-46G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.5702-46G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.5702-46G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.5702-46G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.5702-46G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.5702-46G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.5702-46G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.5702-46G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.5702-46G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.5702-46G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.5702-46G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.5702-46G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.5702-46G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.5702-46G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.5702-46G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.5702-46G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.5702-46G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.5702-46G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.5702-46G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.5702-46G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.5702-46G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.5702-46G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.5702-46G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.5702-46G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|12/35|c.5702-46G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|13/35|c.5702-46G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_5|ENST00000262738|protein_coding|12/35|c.5702-46G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_5|ENST00000262738|protein_coding|13/35|c.5702-46G>T||||||,A|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|12/34|c.5702-46G>T|||||| 22 46793555 . G A . . ANN=A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.5701+16C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.5701+16C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.5701+16C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.5701+16C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.5701+16C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.5701+16C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.5701+16C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.5701+16C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.5701+16C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.5701+16C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.5701+16C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.5701+16C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.5701+16C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.5701+16C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.5701+16C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.5701+16C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.5701+16C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.5701+16C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.5701+16C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.5701+16C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.5701+16C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.5701+16C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.5701+16C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.5701+16C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|12/35|c.5701+16C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|13/35|c.5701+16C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_5|ENST00000262738|protein_coding|12/35|c.5701+16C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_5|ENST00000262738|protein_coding|13/35|c.5701+16C>T||||||,A|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|12/34|c.5701+16C>T|||||| 22 46793592 . A G . . ANN=G|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|12/35|c.5680T>C|p.Tyr1894His|5680/11389|5680/9045|1894/3014||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.5680T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.5680T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.5680T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.5680T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.5680T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.5680T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.5680T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.5680T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.5680T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.5680T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.5680T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.5680T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.5680T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.5680T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.5680T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.5680T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.5680T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.5680T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.5680T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.5680T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.5680T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.5680T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.5680T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.5680T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_5|ENST00000262738|protein_coding|12/35|c.5680T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_5|ENST00000262738|protein_coding|13/35|c.5680T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|12/35|c.5680T>C|||||| 22 46793650 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|12/35|c.5622C>T|p.Asp1874Asp|5622/11389|5622/9045|1874/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.5622C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.5622C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.5622C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.5622C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.5622C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.5622C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.5622C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.5622C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.5622C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.5622C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.5622C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.5622C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.5622C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.5622C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.5622C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.5622C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.5622C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.5622C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.5622C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.5622C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.5622C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.5622C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.5622C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.5622C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_5|ENST00000262738|protein_coding|12/35|c.5622C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_5|ENST00000262738|protein_coding|13/35|c.5622C>T|||||| 22 46793713 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|12/35|c.5559C>T|p.Val1853Val|5559/11389|5559/9045|1853/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.5559C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.5559C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.5559C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.5559C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.5559C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.5559C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.5559C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.5559C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.5559C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.5559C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.5559C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.5559C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.5559C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.5559C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.5559C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.5559C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.5559C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.5559C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.5559C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.5559C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.5559C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.5559C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.5559C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.5559C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|12/35|c.5559C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|11/35|c.5559C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|10/35|c.5559C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|9/35|c.5559C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|12/35|c.5559C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|11/35|c.5559C>T|||||| 22 46793767 . G T . . ANN=T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.5527-22C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.5527-22C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.5527-22C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.5527-22C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.5527-22C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.5527-22C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.5527-22C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.5527-22C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.5527-22C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.5527-22C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.5527-22C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.5527-22C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.5527-22C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.5527-22C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.5527-22C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.5527-22C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.5527-22C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.5527-22C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.5527-22C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.5527-22C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.5527-22C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.5527-22C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.5527-22C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.5527-22C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|12/35|c.5527-22C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|11/35|c.5527-22C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|10/35|c.5527-22C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|9/35|c.5527-22C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|12/35|c.5527-22C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|11/35|c.5527-22C>A||||||,T|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|11/34|c.5527-22C>A|||||| 22 46793783 . G A . . ANN=A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.5527-38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.5527-38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.5527-38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.5527-38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.5527-38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.5527-38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.5527-38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.5527-38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.5527-38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.5527-38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.5527-38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.5527-38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.5527-38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.5527-38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.5527-38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.5527-38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.5527-38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.5527-38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.5527-38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.5527-38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.5527-38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.5527-38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.5527-38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.5527-38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|12/35|c.5527-38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|11/35|c.5527-38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|10/35|c.5527-38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|9/35|c.5527-38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|12/35|c.5527-38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|11/35|c.5527-38C>T||||||,A|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|11/34|c.5527-38C>T|||||| 22 46793789 . G A . . ANN=A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.5527-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.5527-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.5527-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.5527-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.5527-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.5527-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.5527-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.5527-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.5527-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.5527-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.5527-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.5527-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.5527-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.5527-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.5527-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.5527-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.5527-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.5527-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.5527-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.5527-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.5527-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.5527-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.5527-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.5527-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|12/35|c.5527-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|11/35|c.5527-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|10/35|c.5527-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|9/35|c.5527-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|12/35|c.5527-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|11/35|c.5527-44C>T||||||,A|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|11/34|c.5527-44C>T|||||| 22 46794392 . TC T . . ANN=|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.5526+28delG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.5526+28delG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.5526+28delG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.5526+28delG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.5526+28delG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.5526+28delG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.5526+28delG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.5526+28delG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.5526+28delG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.5526+28delG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.5526+28delG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.5526+28delG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.5526+28delG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.5526+28delG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.5526+28delG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.5526+28delG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.5526+28delG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.5526+28delG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.5526+28delG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.5526+28delG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.5526+28delG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.5526+28delG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.5526+28delG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.5526+28delG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|12/35|c.5526+28delG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|11/35|c.5526+28delG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|10/35|c.5526+28delG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|9/35|c.5526+28delG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|12/35|c.5526+28delG||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|11/35|c.5526+28delG||||||,|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|11/34|c.5526+28delG|||||| 22 46794398 . C G . . ANN=G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.5526+23G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.5526+23G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.5526+23G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.5526+23G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.5526+23G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.5526+23G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.5526+23G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.5526+23G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.5526+23G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.5526+23G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.5526+23G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.5526+23G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.5526+23G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.5526+23G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.5526+23G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.5526+23G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.5526+23G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.5526+23G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.5526+23G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.5526+23G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.5526+23G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.5526+23G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.5526+23G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.5526+23G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|12/35|c.5526+23G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|11/35|c.5526+23G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|10/35|c.5526+23G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|9/35|c.5526+23G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|12/35|c.5526+23G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|11/35|c.5526+23G>C||||||,G|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|11/34|c.5526+23G>C|||||| 22 46794475 . T C . . ANN=C|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|11/35|c.5472A>G|p.Gly1824Gly|5472/11389|5472/9045|1824/3014||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.5472A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.5472A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.5472A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.5472A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.5472A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.5472A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.5472A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.5472A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.5472A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.5472A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.5472A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.5472A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.5472A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.5472A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.5472A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.5472A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.5472A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.5472A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.5472A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.5472A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.5472A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.5472A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.5472A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.5472A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|10/35|c.5472A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|9/35|c.5472A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|12/35|c.5472A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|11/35|c.5472A>G|||||| 22 46794515 . C A . . ANN=A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|11/35|c.5432G>T|p.Gly1811Val|5432/11389|5432/9045|1811/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.5432G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.5432G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.5432G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.5432G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.5432G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.5432G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.5432G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.5432G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.5432G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.5432G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.5432G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.5432G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.5432G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.5432G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.5432G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.5432G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.5432G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.5432G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.5432G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.5432G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.5432G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.5432G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.5432G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.5432G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|10/35|c.5432G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|9/35|c.5432G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|12/35|c.5432G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|11/35|c.5432G>T|||||| 22 46794525 . C A . . ANN=A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|11/35|c.5422G>T|p.Asp1808Tyr|5422/11389|5422/9045|1808/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.5422G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.5422G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.5422G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.5422G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.5422G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.5422G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.5422G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.5422G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.5422G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.5422G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.5422G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.5422G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.5422G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.5422G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.5422G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.5422G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.5422G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.5422G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.5422G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.5422G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.5422G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.5422G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.5422G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.5422G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|10/35|c.5422G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|9/35|c.5422G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|12/35|c.5422G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|11/35|c.5422G>T|||||| 22 46794561 . T C . . ANN=C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.5413-27A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.5413-27A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.5413-27A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.5413-27A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.5413-27A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.5413-27A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.5413-27A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.5413-27A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.5413-27A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.5413-27A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.5413-27A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.5413-27A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.5413-27A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.5413-27A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.5413-27A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.5413-27A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.5413-27A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.5413-27A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.5413-27A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.5413-27A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.5413-27A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.5413-27A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.5413-27A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.5413-27A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|10/35|c.5413-27A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|9/35|c.5413-27A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|12/35|c.5413-27A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|11/35|c.5413-27A>G||||||,C|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|10/34|c.5413-27A>G|||||| 22 46794563 . G A . . ANN=A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.5413-29C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.5413-29C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.5413-29C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.5413-29C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.5413-29C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.5413-29C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.5413-29C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.5413-29C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.5413-29C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.5413-29C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.5413-29C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.5413-29C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.5413-29C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.5413-29C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.5413-29C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.5413-29C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.5413-29C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.5413-29C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.5413-29C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.5413-29C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.5413-29C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.5413-29C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.5413-29C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.5413-29C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|10/35|c.5413-29C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|9/35|c.5413-29C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|12/35|c.5413-29C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|11/35|c.5413-29C>T||||||,A|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|10/34|c.5413-29C>T|||||| 22 46795564 . T C . . ANN=C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.5412+50A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.5412+50A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.5412+50A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.5412+50A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.5412+50A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.5412+50A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.5412+50A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.5412+50A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.5412+50A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.5412+50A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.5412+50A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.5412+50A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.5412+50A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.5412+50A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.5412+50A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.5412+50A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.5412+50A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.5412+50A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.5412+50A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.5412+50A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.5412+50A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.5412+50A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.5412+50A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.5412+50A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|10/35|c.5412+50A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|9/35|c.5412+50A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|12/35|c.5412+50A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|11/35|c.5412+50A>G||||||,C|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|10/34|c.5412+50A>G|||||| 22 46795569 . C T . . ANN=T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.5412+45G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.5412+45G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.5412+45G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.5412+45G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.5412+45G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.5412+45G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.5412+45G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.5412+45G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.5412+45G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.5412+45G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.5412+45G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.5412+45G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.5412+45G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.5412+45G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.5412+45G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.5412+45G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.5412+45G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.5412+45G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.5412+45G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.5412+45G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.5412+45G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.5412+45G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.5412+45G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.5412+45G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|10/35|c.5412+45G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|9/35|c.5412+45G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|12/35|c.5412+45G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|11/35|c.5412+45G>A||||||,T|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|10/34|c.5412+45G>A|||||| 22 46795580 . T G . . ANN=G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.5412+34A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.5412+34A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.5412+34A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.5412+34A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.5412+34A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.5412+34A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.5412+34A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.5412+34A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.5412+34A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.5412+34A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.5412+34A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.5412+34A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.5412+34A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.5412+34A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.5412+34A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.5412+34A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.5412+34A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.5412+34A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.5412+34A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.5412+34A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.5412+34A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.5412+34A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.5412+34A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.5412+34A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|10/35|c.5412+34A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|9/35|c.5412+34A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|12/35|c.5412+34A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|11/35|c.5412+34A>C||||||,G|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|10/34|c.5412+34A>C|||||| 22 46795760 . G A . . ANN=A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|10/35|c.5266C>T|p.Pro1756Ser|5266/11389|5266/9045|1756/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.5266C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.5266C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.5266C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.5266C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.5266C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.5266C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.5266C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.5266C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.5266C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.5266C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.5266C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.5266C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.5266C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.5266C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.5266C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.5266C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.5266C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.5266C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.5266C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.5266C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.5266C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.5266C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.5266C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.5266C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|10/35|c.5266C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|9/35|c.5266C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|12/35|c.5266C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|11/35|c.5266C>T|||||| 22 46795832 . T C . . ANN=C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.5227-33A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.5227-33A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.5227-33A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.5227-33A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.5227-33A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.5227-33A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.5227-33A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.5227-33A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.5227-33A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.5227-33A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.5227-33A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.5227-33A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.5227-33A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.5227-33A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.5227-33A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.5227-33A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.5227-33A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.5227-33A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.5227-33A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.5227-33A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.5227-33A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.5227-33A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.5227-33A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.5227-33A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|10/35|c.5227-33A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|9/35|c.5227-33A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|12/35|c.5227-33A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|11/35|c.5227-33A>G||||||,C|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|9/34|c.5227-33A>G|||||| 22 46804862 . A C . . ANN=C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.5226+31T>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.5226+31T>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.5226+31T>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.5226+31T>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.5226+31T>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.5226+31T>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.5226+31T>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.5226+31T>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.5226+31T>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.5226+31T>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.5226+31T>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.5226+31T>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.5226+31T>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.5226+31T>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.5226+31T>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.5226+31T>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.5226+31T>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.5226+31T>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.5226+31T>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.5226+31T>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.5226+31T>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.5226+31T>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.5226+31T>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.5226+31T>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|10/35|c.5226+31T>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|9/35|c.5226+31T>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|12/35|c.5226+31T>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|11/35|c.5226+31T>G||||||,C|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|9/34|c.5226+31T>G|||||| 22 46804878 . C T . . ANN=T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.5226+15G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.5226+15G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.5226+15G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.5226+15G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.5226+15G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.5226+15G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.5226+15G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.5226+15G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.5226+15G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.5226+15G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.5226+15G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.5226+15G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.5226+15G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.5226+15G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.5226+15G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.5226+15G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.5226+15G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.5226+15G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.5226+15G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.5226+15G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.5226+15G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.5226+15G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.5226+15G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.5226+15G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|10/35|c.5226+15G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|9/35|c.5226+15G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|12/35|c.5226+15G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|11/35|c.5226+15G>A||||||,T|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|9/34|c.5226+15G>A|||||| 22 46805007 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|9/35|c.5112C>T|p.Asp1704Asp|5112/11389|5112/9045|1704/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.5112C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.5112C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.5112C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.5112C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.5112C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.5112C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.5112C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.5112C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.5112C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.5112C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.5112C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.5112C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.5112C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.5112C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.5112C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.5112C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.5112C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.5112C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.5112C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.5112C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.5112C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.5112C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.5112C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.5112C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|10/35|c.5112C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|9/35|c.5112C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|12/35|c.5112C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|11/35|c.5112C>T|||||| 22 46805034 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|9/35|c.5085C>T|p.Ser1695Ser|5085/11389|5085/9045|1695/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.5085C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.5085C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.5085C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.5085C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.5085C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.5085C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.5085C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.5085C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.5085C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.5085C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.5085C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.5085C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.5085C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.5085C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.5085C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.5085C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.5085C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.5085C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.5085C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.5085C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.5085C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.5085C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.5085C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.5085C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|10/35|c.5085C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|9/35|c.5085C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|12/35|c.5085C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|11/35|c.5085C>T|||||| 22 46805612 . G C . . ANN=C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.5059+40C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.5059+40C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.5059+40C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.5059+40C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.5059+40C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.5059+40C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.5059+40C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.5059+40C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.5059+40C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.5059+40C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.5059+40C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.5059+40C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.5059+40C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.5059+40C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.5059+40C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.5059+40C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.5059+40C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.5059+40C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.5059+40C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.5059+40C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.5059+40C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.5059+40C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.5059+40C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.5059+40C>G||||||,C|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|8/34|c.5059+40C>G|||||| 22 46805617 . C T . . ANN=T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.5059+35G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.5059+35G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.5059+35G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.5059+35G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.5059+35G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.5059+35G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.5059+35G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.5059+35G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.5059+35G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.5059+35G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.5059+35G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.5059+35G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.5059+35G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.5059+35G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.5059+35G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.5059+35G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.5059+35G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.5059+35G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.5059+35G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.5059+35G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.5059+35G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.5059+35G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.5059+35G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.5059+35G>A||||||,T|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|8/34|c.5059+35G>A|||||| 22 46805642 . G A . . ANN=A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.5059+10C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.5059+10C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.5059+10C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.5059+10C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.5059+10C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.5059+10C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.5059+10C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.5059+10C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.5059+10C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.5059+10C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.5059+10C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.5059+10C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.5059+10C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.5059+10C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.5059+10C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.5059+10C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.5059+10C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.5059+10C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.5059+10C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.5059+10C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.5059+10C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.5059+10C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.5059+10C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.5059+10C>T||||||,A|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|8/34|c.5059+10C>T|||||| 22 46805643 . G A . . ANN=A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.5059+9C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.5059+9C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.5059+9C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.5059+9C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.5059+9C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.5059+9C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.5059+9C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.5059+9C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.5059+9C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.5059+9C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.5059+9C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.5059+9C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.5059+9C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.5059+9C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.5059+9C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.5059+9C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.5059+9C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.5059+9C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.5059+9C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.5059+9C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.5059+9C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.5059+9C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.5059+9C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.5059+9C>T||||||,A|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|8/34|c.5059+9C>T|||||| 22 46805772 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|8/35|c.4939G>A|p.Ala1647Thr|4939/11389|4939/9045|1647/3014||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.4939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.4939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.4939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.4939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.4939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.4939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.4939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.4939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.4939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.4939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.4939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.4939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.4939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.4939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.4939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.4939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.4939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.4939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.4939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.4939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.4939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.4939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.4939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.4939G>A|||||| 22 46805819 . C T . . ANN=T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.4934-42G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.4934-42G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.4934-42G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.4934-42G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.4934-42G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.4934-42G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.4934-42G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.4934-42G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.4934-42G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.4934-42G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.4934-42G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.4934-42G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.4934-42G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.4934-42G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.4934-42G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.4934-42G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.4934-42G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.4934-42G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.4934-42G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.4934-42G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.4934-42G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.4934-42G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.4934-42G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.4934-42G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|8/35|c.4934-42G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|7/35|c.4934-42G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|4/35|c.4934-42G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|8/35|c.4934-42G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|3/35|c.4934-42G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|7/35|c.4934-42G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|5/35|c.4934-42G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|6/35|c.4934-42G>A||||||,T|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|7/34|c.4934-42G>A|||||| 22 46806274 . CG C . . ANN=|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.4933+20delC||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.4933+20delC||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.4933+20delC||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.4933+20delC||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.4933+20delC||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.4933+20delC||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.4933+20delC||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.4933+20delC||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.4933+20delC||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.4933+20delC||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.4933+20delC||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.4933+20delC||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.4933+20delC||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.4933+20delC||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.4933+20delC||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.4933+20delC||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.4933+20delC||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.4933+20delC||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.4933+20delC||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.4933+20delC||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.4933+20delC||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.4933+20delC||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.4933+20delC||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.4933+20delC||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|8/35|c.4933+20delC||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|7/35|c.4933+20delC||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|4/35|c.4933+20delC||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|8/35|c.4933+20delC||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|3/35|c.4933+20delC||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|7/35|c.4933+20delC||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|5/35|c.4933+20delC||||||,|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|6/35|c.4933+20delC||||||,|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|7/34|c.4933+20delC|||||| 22 46806275 . G A . . ANN=A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.4933+20C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.4933+20C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.4933+20C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.4933+20C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.4933+20C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.4933+20C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.4933+20C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.4933+20C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.4933+20C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.4933+20C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.4933+20C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.4933+20C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.4933+20C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.4933+20C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.4933+20C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.4933+20C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.4933+20C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.4933+20C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.4933+20C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.4933+20C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.4933+20C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.4933+20C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.4933+20C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.4933+20C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|8/35|c.4933+20C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|7/35|c.4933+20C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|4/35|c.4933+20C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|8/35|c.4933+20C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|3/35|c.4933+20C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|7/35|c.4933+20C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|5/35|c.4933+20C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|6/35|c.4933+20C>T||||||,A|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|7/34|c.4933+20C>T|||||| 22 46806301 . G A . . ANN=A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|7/35|c.4927C>T|p.Arg1643Trp|4927/11389|4927/9045|1643/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|8/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|7/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|4/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|8/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|3/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|7/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|5/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|6/35|c.4927C>T|||||| 22 46806326 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|7/35|c.4902C>T|p.Ala1634Ala|4902/11389|4902/9045|1634/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.4902C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.4902C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.4902C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.4902C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.4902C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.4902C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.4902C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.4902C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.4902C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.4902C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.4902C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.4902C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.4902C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.4902C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.4902C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.4902C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.4902C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.4902C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.4902C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.4902C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.4902C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.4902C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.4902C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.4902C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|8/35|c.4902C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|7/35|c.4902C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|4/35|c.4902C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|8/35|c.4902C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|3/35|c.4902C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|7/35|c.4902C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|5/35|c.4902C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|6/35|c.4902C>T|||||| 22 46806346 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|7/35|c.4882G>A|p.Gly1628Ser|4882/11389|4882/9045|1628/3014||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|8/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|7/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|4/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|8/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|3/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|7/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|5/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|6/35|c.4882G>A|||||| 22 46806419 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|7/35|c.4809C>T|p.Val1603Val|4809/11389|4809/9045|1603/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.4809C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.4809C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.4809C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.4809C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.4809C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.4809C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.4809C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.4809C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.4809C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.4809C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.4809C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.4809C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.4809C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.4809C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.4809C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.4809C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.4809C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.4809C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.4809C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.4809C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.4809C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.4809C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.4809C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.4809C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|4/35|c.4809C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|8/35|c.4809C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|3/35|c.4809C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|7/35|c.4809C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|5/35|c.4809C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|6/35|c.4809C>T|||||| 22 46806486 . C T . . ANN=T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.4770-28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.4770-28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.4770-28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.4770-28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.4770-28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.4770-28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.4770-28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.4770-28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.4770-28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.4770-28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.4770-28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.4770-28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.4770-28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.4770-28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.4770-28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.4770-28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.4770-28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.4770-28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.4770-28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.4770-28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.4770-28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.4770-28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.4770-28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.4770-28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|4/35|c.4770-28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|8/35|c.4770-28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|3/35|c.4770-28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|7/35|c.4770-28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|5/35|c.4770-28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|6/35|c.4770-28G>A||||||,T|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|6/34|c.4770-28G>A|||||| 22 46807468 . C T . . ANN=T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.4769+31G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.4769+31G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.4769+31G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.4769+31G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.4769+31G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.4769+31G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.4769+31G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.4769+31G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.4769+31G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.4769+31G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.4769+31G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.4769+31G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.4769+31G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.4769+31G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.4769+31G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.4769+31G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.4769+31G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.4769+31G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.4769+31G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.4769+31G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.4769+31G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.4769+31G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.4769+31G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.4769+31G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|4/35|c.4769+31G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|8/35|c.4769+31G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|3/35|c.4769+31G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|7/35|c.4769+31G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|5/35|c.4769+31G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|6/35|c.4769+31G>A||||||,T|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|6/34|c.4769+31G>A|||||| 22 46807510 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|6/35|c.4758C>T|p.Thr1586Thr|4758/11389|4758/9045|1586/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.4758C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.4758C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.4758C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.4758C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.4758C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.4758C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.4758C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.4758C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.4758C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.4758C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.4758C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.4758C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.4758C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.4758C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.4758C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.4758C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.4758C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.4758C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.4758C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.4758C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.4758C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.4758C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.4758C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.4758C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|4/35|c.4758C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|8/35|c.4758C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|3/35|c.4758C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|7/35|c.4758C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|5/35|c.4758C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|6/35|c.4758C>T|||||| 22 46807585 . A G . . ANN=G|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|6/35|c.4683T>C|p.Asp1561Asp|4683/11389|4683/9045|1561/3014||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.4683T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.4683T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.4683T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.4683T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.4683T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.4683T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.4683T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.4683T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.4683T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.4683T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.4683T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.4683T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.4683T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.4683T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.4683T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.4683T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.4683T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.4683T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.4683T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.4683T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.4683T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.4683T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.4683T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.4683T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|4/35|c.4683T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|8/35|c.4683T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|3/35|c.4683T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|7/35|c.4683T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|5/35|c.4683T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|6/35|c.4683T>C|||||| 22 46807698 . A G . . ANN=G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.4612-42T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.4612-42T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.4612-42T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.4612-42T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.4612-42T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.4612-42T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.4612-42T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.4612-42T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.4612-42T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.4612-42T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.4612-42T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.4612-42T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.4612-42T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.4612-42T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.4612-42T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.4612-42T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.4612-42T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.4612-42T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.4612-42T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.4612-42T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.4612-42T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.4612-42T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.4612-42T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.4612-42T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|4/35|c.4612-42T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|8/35|c.4612-42T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|3/35|c.4612-42T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|7/35|c.4612-42T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|5/35|c.4612-42T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|6/35|c.4612-42T>C||||||,G|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|5/34|c.4612-42T>C|||||| 22 46829252 . G A . . ANN=A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.4611+38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.4611+38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.4611+38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.4611+38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.4611+38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.4611+38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.4611+38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.4611+38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.4611+38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.4611+38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.4611+38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.4611+38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.4611+38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.4611+38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.4611+38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.4611+38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.4611+38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.4611+38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.4611+38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.4611+38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.4611+38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.4611+38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.4611+38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.4611+38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|4/35|c.4611+38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|8/35|c.4611+38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|3/35|c.4611+38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|7/35|c.4611+38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|5/35|c.4611+38C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|6/35|c.4611+38C>T||||||,A|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|5/34|c.4611+38C>T|||||| 22 46829276 . G A . . ANN=A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.4611+14C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.4611+14C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.4611+14C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.4611+14C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.4611+14C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.4611+14C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.4611+14C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.4611+14C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.4611+14C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.4611+14C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.4611+14C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.4611+14C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.4611+14C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.4611+14C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.4611+14C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.4611+14C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.4611+14C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.4611+14C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.4611+14C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.4611+14C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.4611+14C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.4611+14C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.4611+14C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.4611+14C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|4/35|c.4611+14C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|8/35|c.4611+14C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|3/35|c.4611+14C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|7/35|c.4611+14C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|5/35|c.4611+14C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|6/35|c.4611+14C>T||||||,A|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|5/34|c.4611+14C>T|||||| 22 46829329 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|5/35|c.4572C>T|p.Asp1524Asp|4572/11389|4572/9045|1524/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.4572C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.4572C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.4572C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.4572C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.4572C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.4572C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.4572C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.4572C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.4572C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.4572C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.4572C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.4572C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.4572C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.4572C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.4572C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.4572C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.4572C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.4572C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.4572C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.4572C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.4572C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.4572C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.4572C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.4572C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|4/35|c.4572C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|8/35|c.4572C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|3/35|c.4572C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|7/35|c.4572C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|5/35|c.4572C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|6/35|c.4572C>T|||||| 22 46829377 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|5/35|c.4524C>T|p.Gly1508Gly|4524/11389|4524/9045|1508/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.4524C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.4524C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.4524C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.4524C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.4524C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.4524C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.4524C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.4524C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.4524C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.4524C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.4524C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.4524C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.4524C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.4524C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.4524C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.4524C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.4524C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.4524C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.4524C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.4524C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.4524C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.4524C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.4524C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.4524C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|4/35|c.4524C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|8/35|c.4524C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|3/35|c.4524C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|7/35|c.4524C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|5/35|c.4524C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|6/35|c.4524C>T|||||| 22 46829412 . A G . . ANN=G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.4523-34T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.4523-34T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.4523-34T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.4523-34T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.4523-34T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.4523-34T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.4523-34T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.4523-34T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.4523-34T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.4523-34T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.4523-34T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.4523-34T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.4523-34T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.4523-34T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.4523-34T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.4523-34T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.4523-34T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.4523-34T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.4523-34T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.4523-34T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.4523-34T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.4523-34T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.4523-34T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.4523-34T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|4/35|c.4523-34T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|8/35|c.4523-34T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|3/35|c.4523-34T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|7/35|c.4523-34T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|5/35|c.4523-34T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|6/35|c.4523-34T>C||||||,G|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|4/34|c.4523-34T>C|||||| 22 46829421 . C T . . ANN=T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.4523-43G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.4523-43G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.4523-43G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.4523-43G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.4523-43G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.4523-43G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.4523-43G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.4523-43G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.4523-43G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.4523-43G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.4523-43G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.4523-43G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.4523-43G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.4523-43G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.4523-43G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.4523-43G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.4523-43G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.4523-43G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.4523-43G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.4523-43G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.4523-43G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.4523-43G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.4523-43G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.4523-43G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|4/35|c.4523-43G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|8/35|c.4523-43G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|3/35|c.4523-43G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|7/35|c.4523-43G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|5/35|c.4523-43G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|6/35|c.4523-43G>A||||||,T|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|4/34|c.4523-43G>A|||||| 22 46829422 . G A . . ANN=A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.4523-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.4523-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.4523-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.4523-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.4523-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.4523-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.4523-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.4523-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.4523-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.4523-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.4523-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.4523-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.4523-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.4523-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.4523-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.4523-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.4523-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.4523-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.4523-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.4523-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.4523-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.4523-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.4523-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.4523-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|4/35|c.4523-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|8/35|c.4523-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|3/35|c.4523-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|7/35|c.4523-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|5/35|c.4523-44C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|6/35|c.4523-44C>T||||||,A|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|4/34|c.4523-44C>T|||||| 22 46829423 . G C . . ANN=C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.4523-45C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.4523-45C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.4523-45C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.4523-45C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.4523-45C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.4523-45C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.4523-45C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.4523-45C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.4523-45C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.4523-45C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.4523-45C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.4523-45C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.4523-45C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.4523-45C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.4523-45C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.4523-45C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.4523-45C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.4523-45C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.4523-45C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.4523-45C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.4523-45C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.4523-45C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.4523-45C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.4523-45C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|4/35|c.4523-45C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|8/35|c.4523-45C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|3/35|c.4523-45C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|7/35|c.4523-45C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|5/35|c.4523-45C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|6/35|c.4523-45C>G||||||,C|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|4/34|c.4523-45C>G|||||| 22 46832056 . G GGGAGAAGGCCCCACCTGC . . ANN=GGAGAAGGCCCCACCTGC|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.4519_4522+14dupGCAGGTGGGGCCTTCTCC||||||,GGAGAAGGCCCCACCTGC|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.4519_4522+14dupGCAGGTGGGGCCTTCTCC||||||,GGAGAAGGCCCCACCTGC|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.4519_4522+14dupGCAGGTGGGGCCTTCTCC||||||,GGAGAAGGCCCCACCTGC|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.4519_4522+14dupGCAGGTGGGGCCTTCTCC||||||,GGAGAAGGCCCCACCTGC|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.4519_4522+14dupGCAGGTGGGGCCTTCTCC||||||,GGAGAAGGCCCCACCTGC|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.4519_4522+14dupGCAGGTGGGGCCTTCTCC||||||,GGAGAAGGCCCCACCTGC|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.4519_4522+14dupGCAGGTGGGGCCTTCTCC||||||,GGAGAAGGCCCCACCTGC|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.4519_4522+14dupGCAGGTGGGGCCTTCTCC||||||,GGAGAAGGCCCCACCTGC|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.4519_4522+14dupGCAGGTGGGGCCTTCTCC||||||,GGAGAAGGCCCCACCTGC|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.4519_4522+14dupGCAGGTGGGGCCTTCTCC||||||,GGAGAAGGCCCCACCTGC|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.4519_4522+14dupGCAGGTGGGGCCTTCTCC||||||,GGAGAAGGCCCCACCTGC|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.4519_4522+14dupGCAGGTGGGGCCTTCTCC||||||,GGAGAAGGCCCCACCTGC|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.4519_4522+14dupGCAGGTGGGGCCTTCTCC||||||,GGAGAAGGCCCCACCTGC|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.4519_4522+14dupGCAGGTGGGGCCTTCTCC||||||,GGAGAAGGCCCCACCTGC|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.4519_4522+14dupGCAGGTGGGGCCTTCTCC||||||,GGAGAAGGCCCCACCTGC|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.4519_4522+14dupGCAGGTGGGGCCTTCTCC||||||,GGAGAAGGCCCCACCTGC|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.4519_4522+14dupGCAGGTGGGGCCTTCTCC||||||,GGAGAAGGCCCCACCTGC|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.4519_4522+14dupGCAGGTGGGGCCTTCTCC||||||,GGAGAAGGCCCCACCTGC|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.4519_4522+14dupGCAGGTGGGGCCTTCTCC||||||,GGAGAAGGCCCCACCTGC|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.4519_4522+14dupGCAGGTGGGGCCTTCTCC||||||,GGAGAAGGCCCCACCTGC|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.4519_4522+14dupGCAGGTGGGGCCTTCTCC||||||,GGAGAAGGCCCCACCTGC|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.4519_4522+14dupGCAGGTGGGGCCTTCTCC||||||,GGAGAAGGCCCCACCTGC|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.4519_4522+14dupGCAGGTGGGGCCTTCTCC||||||,GGAGAAGGCCCCACCTGC|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.4519_4522+14dupGCAGGTGGGGCCTTCTCC||||||,GGAGAAGGCCCCACCTGC|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|4/35|c.4519_4522+14dupGCAGGTGGGGCCTTCTCC||||||,GGAGAAGGCCCCACCTGC|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|8/35|c.4519_4522+14dupGCAGGTGGGGCCTTCTCC||||||,GGAGAAGGCCCCACCTGC|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|3/35|c.4519_4522+14dupGCAGGTGGGGCCTTCTCC||||||,GGAGAAGGCCCCACCTGC|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|7/35|c.4519_4522+14dupGCAGGTGGGGCCTTCTCC||||||,GGAGAAGGCCCCACCTGC|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|5/35|c.4519_4522+14dupGCAGGTGGGGCCTTCTCC||||||,GGAGAAGGCCCCACCTGC|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|6/35|c.4519_4522+14dupGCAGGTGGGGCCTTCTCC||||||,GGAGAAGGCCCCACCTGC|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|4/34|c.4519_4522+14dupGCAGGTGGGGCCTTCTCC|||||| 22 46832075 . A G . . ANN=G|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|4/35|c.4518T>C|p.Ser1506Ser|4518/11389|4518/9045|1506/3014||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.4518T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.4518T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.4518T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.4518T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.4518T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.4518T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.4518T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.4518T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.4518T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.4518T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.4518T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.4518T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.4518T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.4518T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.4518T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.4518T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.4518T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.4518T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.4518T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.4518T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.4518T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.4518T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.4518T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.4518T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|4/35|c.4518T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|8/35|c.4518T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|3/35|c.4518T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|7/35|c.4518T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|5/35|c.4518T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|6/35|c.4518T>C|||||| 22 46835036 . G GT . . ANN=T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.4406+49_4406+50insA||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.4406+49_4406+50insA||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.4406+49_4406+50insA||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.4406+49_4406+50insA||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.4406+49_4406+50insA||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.4406+49_4406+50insA||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.4406+49_4406+50insA||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.4406+49_4406+50insA||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.4406+49_4406+50insA||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.4406+49_4406+50insA||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.4406+49_4406+50insA||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.4406+49_4406+50insA||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.4406+49_4406+50insA||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.4406+49_4406+50insA||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.4406+49_4406+50insA||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.4406+49_4406+50insA||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.4406+49_4406+50insA||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.4406+49_4406+50insA||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.4406+49_4406+50insA||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.4406+49_4406+50insA||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.4406+49_4406+50insA||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.4406+49_4406+50insA||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.4406+49_4406+50insA||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.4406+49_4406+50insA||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|4/35|c.4406+49_4406+50insA||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|8/35|c.4406+49_4406+50insA||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|3/35|c.4406+49_4406+50insA||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|7/35|c.4406+49_4406+50insA||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|5/35|c.4406+49_4406+50insA||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|6/35|c.4406+49_4406+50insA||||||,T|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|3/34|c.4406+49_4406+50insA|||||| 22 46835037 . C T . . ANN=T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.4406+49G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.4406+49G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.4406+49G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.4406+49G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.4406+49G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.4406+49G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.4406+49G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.4406+49G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.4406+49G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.4406+49G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.4406+49G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.4406+49G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.4406+49G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.4406+49G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.4406+49G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.4406+49G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.4406+49G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.4406+49G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.4406+49G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.4406+49G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.4406+49G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.4406+49G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.4406+49G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.4406+49G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|4/35|c.4406+49G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|8/35|c.4406+49G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|3/35|c.4406+49G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|7/35|c.4406+49G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|5/35|c.4406+49G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|6/35|c.4406+49G>A||||||,T|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|3/34|c.4406+49G>A|||||| 22 46835054 . C A . . ANN=A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.4406+32G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.4406+32G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.4406+32G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.4406+32G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.4406+32G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.4406+32G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.4406+32G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.4406+32G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.4406+32G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.4406+32G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.4406+32G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.4406+32G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.4406+32G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.4406+32G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.4406+32G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.4406+32G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.4406+32G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.4406+32G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.4406+32G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.4406+32G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.4406+32G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.4406+32G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.4406+32G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.4406+32G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|4/35|c.4406+32G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|8/35|c.4406+32G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|3/35|c.4406+32G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|7/35|c.4406+32G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|5/35|c.4406+32G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|6/35|c.4406+32G>T||||||,A|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|3/34|c.4406+32G>T|||||| 22 46835058 . C T . . ANN=T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.4406+28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.4406+28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.4406+28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.4406+28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.4406+28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.4406+28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.4406+28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.4406+28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.4406+28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.4406+28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.4406+28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.4406+28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.4406+28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.4406+28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.4406+28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.4406+28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.4406+28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.4406+28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.4406+28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.4406+28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.4406+28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.4406+28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.4406+28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.4406+28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|4/35|c.4406+28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|8/35|c.4406+28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|3/35|c.4406+28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|7/35|c.4406+28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|5/35|c.4406+28G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|6/35|c.4406+28G>A||||||,T|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|3/34|c.4406+28G>A|||||| 22 46835115 . T C . . ANN=C|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|3/35|c.4377A>G|p.Arg1459Arg|4377/11389|4377/9045|1459/3014||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.4377A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.4377A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.4377A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.4377A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.4377A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.4377A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.4377A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.4377A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.4377A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.4377A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.4377A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.4377A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.4377A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.4377A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.4377A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.4377A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.4377A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.4377A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.4377A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.4377A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.4377A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.4377A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.4377A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.4377A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|4/35|c.4377A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|8/35|c.4377A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|3/35|c.4377A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|7/35|c.4377A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|5/35|c.4377A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|6/35|c.4377A>G|||||| 22 46835192 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|3/35|c.4300G>A|p.Glu1434Lys|4300/11389|4300/9045|1434/3014||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.4300G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.4300G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.4300G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.4300G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.4300G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.4300G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.4300G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.4300G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.4300G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.4300G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.4300G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.4300G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.4300G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.4300G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.4300G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.4300G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.4300G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.4300G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.4300G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.4300G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.4300G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.4300G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.4300G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.4300G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_3|ENST00000262738|protein_coding|3/35|c.4300G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|3/35|c.4300G>A|||||| 22 46835265 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|3/35|c.4227C>T|p.Asn1409Asn|4227/11389|4227/9045|1409/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.4227C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.4227C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.4227C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.4227C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.4227C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.4227C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.4227C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.4227C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.4227C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.4227C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.4227C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.4227C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.4227C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.4227C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.4227C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.4227C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.4227C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.4227C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.4227C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.4227C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.4227C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.4227C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.4227C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.4227C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_3|ENST00000262738|protein_coding|3/35|c.4227C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|3/35|c.4227C>T|||||| 22 46835289 . A G . . ANN=G|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|3/35|c.4203T>C|p.Asp1401Asp|4203/11389|4203/9045|1401/3014||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.4203T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.4203T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.4203T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.4203T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.4203T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.4203T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.4203T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.4203T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.4203T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.4203T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.4203T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.4203T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.4203T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.4203T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.4203T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.4203T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.4203T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.4203T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.4203T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.4203T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.4203T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.4203T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.4203T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.4203T>C|||||| 22 46835316 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|2/34|c.4184-8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.4184-8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.4184-8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.4184-8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.4184-8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.4184-8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.4184-8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.4184-8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.4184-8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.4184-8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.4184-8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.4184-8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.4184-8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.4184-8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.4184-8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.4184-8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.4184-8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.4184-8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.4184-8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.4184-8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.4184-8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.4184-8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.4184-8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.4184-8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.4184-8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_2|ENST00000262738|protein_coding|3/35|c.4184-8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_2|ENST00000262738|protein_coding|2/35|c.4184-8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|3/35|c.4184-8C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|2/35|c.4184-8C>T|||||| 22 46835338 . G A . . ANN=A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.4184-30C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.4184-30C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.4184-30C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.4184-30C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.4184-30C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.4184-30C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.4184-30C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.4184-30C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.4184-30C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.4184-30C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.4184-30C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.4184-30C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.4184-30C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.4184-30C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.4184-30C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.4184-30C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.4184-30C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.4184-30C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.4184-30C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.4184-30C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.4184-30C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.4184-30C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.4184-30C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.4184-30C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_2|ENST00000262738|protein_coding|3/35|c.4184-30C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_2|ENST00000262738|protein_coding|2/35|c.4184-30C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|3/35|c.4184-30C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|2/35|c.4184-30C>T||||||,A|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|2/34|c.4184-30C>T|||||| 22 46859616 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|2/35|c.4171G>A|p.Glu1391Lys|4171/11389|4171/9045|1391/3014||,T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|2/3|c.4171G>A|p.Glu1391Lys|4171/4194|4171/4194|1391/1397||,T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|2/3|c.2293G>A|p.Glu765Lys|2295/2446|2293/2316|765/771||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.4171G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.4171G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.4171G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.4171G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.4171G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.4171G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.4171G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.4171G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.4171G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.4171G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.4171G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.4171G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.4171G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.4171G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.4171G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.4171G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.4171G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.4171G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.4171G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.4171G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.4171G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.4171G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.4171G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.4171G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_2|ENST00000262738|protein_coding|3/35|c.4171G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_2|ENST00000262738|protein_coding|2/35|c.4171G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|3/35|c.4171G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|2/35|c.4171G>A|||||| 22 46859638 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|2/35|c.4149C>T|p.Gly1383Gly|4149/11389|4149/9045|1383/3014||,A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|2/3|c.4149C>T|p.Gly1383Gly|4149/4194|4149/4194|1383/1397||,A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|2/3|c.2271C>T|p.Gly757Gly|2273/2446|2271/2316|757/771||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.4149C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.4149C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.4149C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.4149C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.4149C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.4149C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.4149C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.4149C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.4149C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.4149C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.4149C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.4149C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.4149C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.4149C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.4149C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.4149C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.4149C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.4149C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.4149C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.4149C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.4149C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.4149C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.4149C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.4149C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_2|ENST00000262738|protein_coding|3/35|c.4149C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_2|ENST00000262738|protein_coding|2/35|c.4149C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|2/35|c.4149C>T|||||| 22 46859728 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|2/35|c.4059C>T|p.Pro1353Pro|4059/11389|4059/9045|1353/3014||,A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|2/3|c.4059C>T|p.Pro1353Pro|4059/4194|4059/4194|1353/1397||,A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|2/3|c.2181C>T|p.Pro727Pro|2183/2446|2181/2316|727/771||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.4059C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.4059C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.4059C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.4059C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.4059C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.4059C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.4059C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.4059C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.4059C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.4059C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.4059C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.4059C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.4059C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.4059C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.4059C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.4059C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.4059C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.4059C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.4059C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.4059C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.4059C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.4059C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.4059C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.4059C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_1|ENST00000262738|protein_coding|2/35|c.4059C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|2/35|c.4059C>T|||||| 22 46859731 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|2/35|c.4056G>A|p.Pro1352Pro|4056/11389|4056/9045|1352/3014||,T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|2/3|c.4056G>A|p.Pro1352Pro|4056/4194|4056/4194|1352/1397||,T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|2/3|c.2178G>A|p.Pro726Pro|2180/2446|2178/2316|726/771||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.4056G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.4056G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.4056G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.4056G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.4056G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.4056G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.4056G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.4056G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.4056G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.4056G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.4056G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.4056G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.4056G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.4056G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.4056G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.4056G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.4056G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.4056G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.4056G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.4056G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.4056G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.4056G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.4056G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.4056G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_1|ENST00000262738|protein_coding|2/35|c.4056G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|2/35|c.4056G>A|||||| 22 46859751 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|2/35|c.4036G>A|p.Gly1346Ser|4036/11389|4036/9045|1346/3014||,T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|2/3|c.4036G>A|p.Gly1346Ser|4036/4194|4036/4194|1346/1397||,T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|2/3|c.2158G>A|p.Gly720Ser|2160/2446|2158/2316|720/771||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.4036G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.4036G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.4036G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.4036G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.4036G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.4036G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.4036G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.4036G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.4036G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.4036G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.4036G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.4036G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.4036G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.4036G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.4036G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.4036G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.4036G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.4036G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.4036G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.4036G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.4036G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.4036G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.4036G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.4036G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_1|ENST00000262738|protein_coding|2/35|c.4036G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|2/35|c.4036G>A|||||| 22 46859826 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|2/35|c.3961G>A|p.Val1321Ile|3961/11389|3961/9045|1321/3014||,T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|2/3|c.3961G>A|p.Val1321Ile|3961/4194|3961/4194|1321/1397||,T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|2/3|c.2083G>A|p.Val695Ile|2085/2446|2083/2316|695/771||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.3961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.3961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.3961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.3961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.3961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.3961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.3961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.3961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.3961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.3961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.3961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.3961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.3961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.3961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.3961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.3961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.3961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.3961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.3961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.3961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.3961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.3961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.3961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.3961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_1|ENST00000262738|protein_coding|2/35|c.3961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|2/35|c.3961G>A|||||| 22 46859832 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|2/35|c.3955G>A|p.Val1319Met|3955/11389|3955/9045|1319/3014||,T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|2/3|c.3955G>A|p.Val1319Met|3955/4194|3955/4194|1319/1397||,T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|2/3|c.2077G>A|p.Val693Met|2079/2446|2077/2316|693/771||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.3955G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.3955G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.3955G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.3955G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.3955G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.3955G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.3955G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.3955G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.3955G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.3955G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.3955G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.3955G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.3955G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.3955G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.3955G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.3955G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.3955G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.3955G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.3955G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.3955G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.3955G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.3955G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.3955G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.3955G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_1|ENST00000262738|protein_coding|2/35|c.3955G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|2/35|c.3955G>A|||||| 22 46859900 . G A . . ANN=A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|2/35|c.3887C>T|p.Thr1296Met|3887/11389|3887/9045|1296/3014||,A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|2/3|c.3887C>T|p.Thr1296Met|3887/4194|3887/4194|1296/1397||,A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|2/3|c.2009C>T|p.Thr670Met|2011/2446|2009/2316|670/771||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.3887C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.3887C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.3887C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.3887C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.3887C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.3887C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.3887C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.3887C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.3887C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.3887C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.3887C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.3887C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.3887C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.3887C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.3887C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.3887C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.3887C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.3887C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.3887C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.3887C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.3887C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.3887C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.3887C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.3887C>T|||||| 22 46859920 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|2/35|c.3867G>A|p.Thr1289Thr|3867/11389|3867/9045|1289/3014||,T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|2/3|c.3867G>A|p.Thr1289Thr|3867/4194|3867/4194|1289/1397||,T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|2/3|c.1989G>A|p.Thr663Thr|1991/2446|1989/2316|663/771||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.3867G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.3867G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.3867G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.3867G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.3867G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.3867G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.3867G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.3867G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.3867G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.3867G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.3867G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.3867G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.3867G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.3867G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.3867G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.3867G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.3867G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.3867G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.3867G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.3867G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.3867G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.3867G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.3867G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.3867G>A|||||| 22 46859957 . G A . . ANN=A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|2/35|c.3830C>T|p.Ser1277Leu|3830/11389|3830/9045|1277/3014||,A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|2/3|c.3830C>T|p.Ser1277Leu|3830/4194|3830/4194|1277/1397||,A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|2/3|c.1952C>T|p.Ser651Leu|1954/2446|1952/2316|651/771||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.3830C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.3830C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.3830C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.3830C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.3830C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.3830C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.3830C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.3830C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.3830C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.3830C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.3830C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.3830C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.3830C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.3830C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.3830C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.3830C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.3830C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.3830C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.3830C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.3830C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.3830C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.3830C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.3830C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.3830C>T|||||| 22 46859995 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|2/35|c.3792G>A|p.Ala1264Ala|3792/11389|3792/9045|1264/3014||,T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|2/3|c.3792G>A|p.Ala1264Ala|3792/4194|3792/4194|1264/1397||,T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|2/3|c.1914G>A|p.Ala638Ala|1916/2446|1914/2316|638/771||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.3792G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.3792G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.3792G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.3792G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.3792G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.3792G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.3792G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.3792G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.3792G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.3792G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.3792G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.3792G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.3792G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.3792G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.3792G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.3792G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.3792G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.3792G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.3792G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.3792G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.3792G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.3792G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.3792G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.3792G>A|||||| 22 46860034 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|2/35|c.3753C>T|p.Thr1251Thr|3753/11389|3753/9045|1251/3014||,A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|2/3|c.3753C>T|p.Thr1251Thr|3753/4194|3753/4194|1251/1397||,A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|2/3|c.1875C>T|p.Thr625Thr|1877/2446|1875/2316|625/771||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.3753C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.3753C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.3753C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.3753C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.3753C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.3753C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.3753C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.3753C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.3753C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.3753C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.3753C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.3753C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.3753C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.3753C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.3753C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.3753C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.3753C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.3753C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.3753C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.3753C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.3753C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.3753C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.3753C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.3753C>T|||||| 22 46860049 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|2/35|c.3738C>T|p.Asn1246Asn|3738/11389|3738/9045|1246/3014||,A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|2/3|c.3738C>T|p.Asn1246Asn|3738/4194|3738/4194|1246/1397||,A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|2/3|c.1860C>T|p.Asn620Asn|1862/2446|1860/2316|620/771||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.3738C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.3738C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.3738C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.3738C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.3738C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.3738C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.3738C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.3738C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.3738C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.3738C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.3738C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.3738C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.3738C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.3738C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.3738C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.3738C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.3738C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.3738C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.3738C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.3738C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.3738C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.3738C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.3738C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.3738C>T|||||| 22 46860057 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|2/35|c.3730G>A|p.Val1244Ile|3730/11389|3730/9045|1244/3014||,T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|2/3|c.3730G>A|p.Val1244Ile|3730/4194|3730/4194|1244/1397||,T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|2/3|c.1852G>A|p.Val618Ile|1854/2446|1852/2316|618/771||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.3730G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.3730G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.3730G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.3730G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.3730G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.3730G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.3730G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.3730G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.3730G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.3730G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.3730G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.3730G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.3730G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.3730G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.3730G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.3730G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.3730G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.3730G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.3730G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.3730G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.3730G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.3730G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.3730G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.3730G>A|||||| 22 46860063 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|2/35|c.3724G>A|p.Val1242Ile|3724/11389|3724/9045|1242/3014||,T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|2/3|c.3724G>A|p.Val1242Ile|3724/4194|3724/4194|1242/1397||,T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|2/3|c.1846G>A|p.Val616Ile|1848/2446|1846/2316|616/771||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.3724G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.3724G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.3724G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.3724G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.3724G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.3724G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.3724G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.3724G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.3724G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.3724G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.3724G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.3724G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.3724G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.3724G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.3724G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.3724G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.3724G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.3724G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.3724G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.3724G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.3724G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.3724G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.3724G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.3724G>A|||||| 22 46860088 . G C . . ANN=C|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|2/35|c.3699C>G|p.Ala1233Ala|3699/11389|3699/9045|1233/3014||,C|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|2/3|c.3699C>G|p.Ala1233Ala|3699/4194|3699/4194|1233/1397||,C|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|2/3|c.1821C>G|p.Ala607Ala|1823/2446|1821/2316|607/771||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.3699C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.3699C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.3699C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.3699C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.3699C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.3699C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.3699C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.3699C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.3699C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.3699C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.3699C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.3699C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.3699C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.3699C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.3699C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.3699C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.3699C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.3699C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.3699C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.3699C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.3699C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.3699C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.3699C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.3699C>G|||||| 22 46860184 . G T . . ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|2/35|c.3603C>A|p.Asp1201Glu|3603/11389|3603/9045|1201/3014||,T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|2/3|c.3603C>A|p.Asp1201Glu|3603/4194|3603/4194|1201/1397||,T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|2/3|c.1725C>A|p.Asp575Glu|1727/2446|1725/2316|575/771||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.3603C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.3603C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.3603C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.3603C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.3603C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.3603C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.3603C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.3603C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.3603C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.3603C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.3603C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.3603C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.3603C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.3603C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.3603C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.3603C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.3603C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.3603C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.3603C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.3603C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.3603C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.3603C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.3603C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.3603C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_9|ENST00000262738|protein_coding|1/35|c.3603C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_9|ENST00000262738|protein_coding|2/35|c.3603C>A|||||| 22 46860223 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|2/35|c.3564G>A|p.Thr1188Thr|3564/11389|3564/9045|1188/3014||,T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|2/3|c.3564G>A|p.Thr1188Thr|3564/4194|3564/4194|1188/1397||,T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|2/3|c.1686G>A|p.Thr562Thr|1688/2446|1686/2316|562/771||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.3564G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.3564G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.3564G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.3564G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.3564G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.3564G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.3564G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.3564G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.3564G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.3564G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.3564G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.3564G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.3564G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.3564G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.3564G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.3564G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.3564G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.3564G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.3564G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.3564G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.3564G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.3564G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.3564G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.3564G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_9|ENST00000262738|protein_coding|1/35|c.3564G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_9|ENST00000262738|protein_coding|2/35|c.3564G>A|||||| 22 46860281 . C T . . ANN=T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.3545-39G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.3545-39G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.3545-39G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.3545-39G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.3545-39G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.3545-39G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.3545-39G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.3545-39G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.3545-39G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.3545-39G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.3545-39G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.3545-39G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.3545-39G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.3545-39G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.3545-39G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.3545-39G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.3545-39G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.3545-39G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.3545-39G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.3545-39G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.3545-39G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.3545-39G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.3545-39G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.3545-39G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_9|ENST00000262738|protein_coding|1/35|c.3545-39G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_9|ENST00000262738|protein_coding|2/35|c.3545-39G>A||||||,T|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/34|c.3545-39G>A||||||,T|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/2|c.3545-39G>A||||||,T|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|1/2|c.1667-39G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 46929490 . A G . . ANN=G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.3544+34T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.3544+34T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.3544+34T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.3544+34T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.3544+34T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.3544+34T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.3544+34T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.3544+34T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.3544+34T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.3544+34T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.3544+34T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.3544+34T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.3544+34T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.3544+34T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.3544+34T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.3544+34T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.3544+34T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.3544+34T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.3544+34T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.3544+34T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.3544+34T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.3544+34T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.3544+34T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.3544+34T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_9|ENST00000262738|protein_coding|1/35|c.3544+34T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_9|ENST00000262738|protein_coding|2/35|c.3544+34T>C||||||,G|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/34|c.3544+34T>C||||||,G|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/2|c.3544+34T>C||||||,G|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|1/2|c.1666+34T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript|1/1|n.574+34T>C|||||| 22 46929495 . C A . . ANN=A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.3544+29G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.3544+29G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.3544+29G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.3544+29G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.3544+29G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.3544+29G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.3544+29G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.3544+29G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.3544+29G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.3544+29G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.3544+29G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.3544+29G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.3544+29G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.3544+29G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.3544+29G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.3544+29G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.3544+29G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.3544+29G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.3544+29G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.3544+29G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.3544+29G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.3544+29G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.3544+29G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.3544+29G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_9|ENST00000262738|protein_coding|1/35|c.3544+29G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_9|ENST00000262738|protein_coding|2/35|c.3544+29G>T||||||,A|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/34|c.3544+29G>T||||||,A|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/2|c.3544+29G>T||||||,A|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|1/2|c.1666+29G>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript|1/1|n.574+29G>T|||||| 22 46929511 . G A . . ANN=A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.3544+13C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.3544+13C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.3544+13C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.3544+13C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.3544+13C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.3544+13C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.3544+13C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.3544+13C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.3544+13C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.3544+13C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.3544+13C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.3544+13C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.3544+13C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.3544+13C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.3544+13C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.3544+13C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.3544+13C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.3544+13C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.3544+13C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.3544+13C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.3544+13C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.3544+13C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.3544+13C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.3544+13C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_9|ENST00000262738|protein_coding|1/35|c.3544+13C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_9|ENST00000262738|protein_coding|2/35|c.3544+13C>T||||||,A|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/34|c.3544+13C>T||||||,A|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/2|c.3544+13C>T||||||,A|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|1/2|c.1666+13C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript|1/1|n.574+13C>T|||||| 22 46929597 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.3471G>A|p.Thr1157Thr|3471/11389|3471/9045|1157/3014||,T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.3471G>A|p.Thr1157Thr|3471/4194|3471/4194|1157/1397||,T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|1/3|c.1593G>A|p.Thr531Thr|1595/2446|1593/2316|531/771||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.3471G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.3471G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.3471G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.3471G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.3471G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.3471G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.3471G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.3471G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.3471G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.3471G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.3471G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.3471G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.3471G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.3471G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.3471G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.3471G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.3471G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.3471G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.3471G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.3471G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.3471G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.3471G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.3471G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.3471G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_9|ENST00000262738|protein_coding|1/35|c.3471G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_9|ENST00000262738|protein_coding|2/35|c.3471G>A||||||,T|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript|1/2|n.501G>A|||||| 22 46929683 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.3385G>A|p.Ala1129Thr|3385/11389|3385/9045|1129/3014||,T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.3385G>A|p.Ala1129Thr|3385/4194|3385/4194|1129/1397||,T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|1/3|c.1507G>A|p.Ala503Thr|1509/2446|1507/2316|503/771||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.3385G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.3385G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.3385G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.3385G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.3385G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.3385G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.3385G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.3385G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.3385G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.3385G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.3385G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.3385G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.3385G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.3385G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.3385G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.3385G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.3385G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.3385G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.3385G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.3385G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.3385G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.3385G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.3385G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.3385G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_9|ENST00000262738|protein_coding|1/35|c.3385G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_9|ENST00000262738|protein_coding|2/35|c.3385G>A||||||,T|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript|1/2|n.415G>A|||||| 22 46929692 . A G . . ANN=G|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.3376T>C|p.Cys1126Arg|3376/11389|3376/9045|1126/3014||,G|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.3376T>C|p.Cys1126Arg|3376/4194|3376/4194|1126/1397||,G|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|1/3|c.1498T>C|p.Cys500Arg|1500/2446|1498/2316|500/771||WARNING_TRANSCRIPT_NO_START_CODON,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.3376T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.3376T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.3376T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.3376T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.3376T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.3376T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.3376T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.3376T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.3376T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.3376T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.3376T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.3376T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.3376T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.3376T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.3376T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.3376T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.3376T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.3376T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.3376T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.3376T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.3376T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.3376T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.3376T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.3376T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_9|ENST00000262738|protein_coding|1/35|c.3376T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_9|ENST00000262738|protein_coding|2/35|c.3376T>C||||||,G|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript|1/2|n.406T>C|||||| 22 46929702 . G C . . ANN=C|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.3366C>G|p.Gly1122Gly|3366/11389|3366/9045|1122/3014||,C|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.3366C>G|p.Gly1122Gly|3366/4194|3366/4194|1122/1397||,C|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|1/3|c.1488C>G|p.Gly496Gly|1490/2446|1488/2316|496/771||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.3366C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.3366C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.3366C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.3366C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.3366C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.3366C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.3366C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.3366C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.3366C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.3366C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.3366C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.3366C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.3366C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.3366C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.3366C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.3366C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.3366C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.3366C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.3366C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.3366C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.3366C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.3366C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.3366C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.3366C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_9|ENST00000262738|protein_coding|1/35|c.3366C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_9|ENST00000262738|protein_coding|2/35|c.3366C>G||||||,C|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript|1/2|n.396C>G|||||| 22 46929704 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.3364G>A|p.Gly1122Ser|3364/11389|3364/9045|1122/3014||,T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.3364G>A|p.Gly1122Ser|3364/4194|3364/4194|1122/1397||,T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|1/3|c.1486G>A|p.Gly496Ser|1488/2446|1486/2316|496/771||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.3364G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.3364G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.3364G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.3364G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.3364G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.3364G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.3364G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.3364G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.3364G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.3364G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.3364G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.3364G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.3364G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.3364G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.3364G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.3364G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.3364G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.3364G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.3364G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.3364G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.3364G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.3364G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.3364G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.3364G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_9|ENST00000262738|protein_coding|1/35|c.3364G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_9|ENST00000262738|protein_coding|2/35|c.3364G>A||||||,T|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript|1/2|n.394G>A|||||| 22 46929816 . T C . . ANN=C|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.3252A>G|p.Arg1084Arg|3252/11389|3252/9045|1084/3014||,C|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.3252A>G|p.Arg1084Arg|3252/4194|3252/4194|1084/1397||,C|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|1/3|c.1374A>G|p.Arg458Arg|1376/2446|1374/2316|458/771||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.3252A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.3252A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.3252A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.3252A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.3252A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.3252A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.3252A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.3252A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.3252A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.3252A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.3252A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.3252A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.3252A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.3252A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.3252A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.3252A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.3252A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.3252A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.3252A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.3252A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.3252A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.3252A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.3252A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.3252A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_8|ENST00000262738|protein_coding|1/35|c.3252A>G||||||,C|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript|1/2|n.282A>G|||||| 22 46929828 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.3240G>A|p.Pro1080Pro|3240/11389|3240/9045|1080/3014||,T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.3240G>A|p.Pro1080Pro|3240/4194|3240/4194|1080/1397||,T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|1/3|c.1362G>A|p.Pro454Pro|1364/2446|1362/2316|454/771||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.3240G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.3240G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.3240G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.3240G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.3240G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.3240G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.3240G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.3240G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.3240G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.3240G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.3240G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.3240G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.3240G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.3240G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.3240G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.3240G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.3240G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.3240G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.3240G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.3240G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.3240G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.3240G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.3240G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.3240G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_8|ENST00000262738|protein_coding|1/35|c.3240G>A||||||,T|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript|1/2|n.270G>A|||||| 22 46929877 . A G . . ANN=G|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.3191T>C|p.Phe1064Ser|3191/11389|3191/9045|1064/3014||,G|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.3191T>C|p.Phe1064Ser|3191/4194|3191/4194|1064/1397||,G|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|1/3|c.1313T>C|p.Phe438Ser|1315/2446|1313/2316|438/771||WARNING_TRANSCRIPT_NO_START_CODON,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.3191T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.3191T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.3191T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.3191T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.3191T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.3191T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.3191T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.3191T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.3191T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.3191T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.3191T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.3191T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.3191T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.3191T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.3191T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.3191T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.3191T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.3191T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.3191T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.3191T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.3191T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.3191T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.3191T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.3191T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_8|ENST00000262738|protein_coding|1/35|c.3191T>C||||||,G|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript|1/2|n.221T>C|||||| 22 46929899 . G A . . ANN=A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.3169C>T|p.Arg1057Cys|3169/11389|3169/9045|1057/3014||,A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.3169C>T|p.Arg1057Cys|3169/4194|3169/4194|1057/1397||,A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|1/3|c.1291C>T|p.Arg431Cys|1293/2446|1291/2316|431/771||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.3169C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.3169C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.3169C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.3169C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.3169C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.3169C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.3169C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.3169C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.3169C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.3169C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.3169C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.3169C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.3169C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.3169C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.3169C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.3169C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.3169C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.3169C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.3169C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.3169C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.3169C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.3169C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.3169C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.3169C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_8|ENST00000262738|protein_coding|1/35|c.3169C>T||||||,A|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript|1/2|n.199C>T|||||| 22 46930013 . C A . . ANN=A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.3055G>T|p.Ala1019Ser|3055/11389|3055/9045|1019/3014||,A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.3055G>T|p.Ala1019Ser|3055/4194|3055/4194|1019/1397||,A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|1/3|c.1177G>T|p.Ala393Ser|1179/2446|1177/2316|393/771||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.3055G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.3055G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.3055G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.3055G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.3055G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.3055G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.3055G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.3055G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.3055G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.3055G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.3055G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.3055G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.3055G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.3055G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.3055G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.3055G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.3055G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.3055G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.3055G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.3055G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.3055G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.3055G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.3055G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.3055G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_8|ENST00000262738|protein_coding|1/35|c.3055G>T||||||,A|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript|1/2|n.85G>T|||||| 22 46930107 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.2961G>A|p.Val987Val|2961/11389|2961/9045|987/3014||,T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.2961G>A|p.Val987Val|2961/4194|2961/4194|987/1397||,T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|1/3|c.1083G>A|p.Val361Val|1085/2446|1083/2316|361/771||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.2961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.2961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.2961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.2961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.2961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.2961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.2961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.2961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.2961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.2961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.2961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.2961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.2961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.2961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.2961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.2961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.2961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.2961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.2961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.2961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.2961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.2961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.2961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.2961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_7|ENST00000262738|protein_coding|1/35|c.2961G>A||||||,T|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1G>A|||||10| 22 46930138 . G A . . ANN=A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.2930C>T|p.Thr977Ile|2930/11389|2930/9045|977/3014||,A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.2930C>T|p.Thr977Ile|2930/4194|2930/4194|977/1397||,A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|1/3|c.1052C>T|p.Thr351Ile|1054/2446|1052/2316|351/771||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.2930C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.2930C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.2930C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.2930C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.2930C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.2930C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.2930C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.2930C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.2930C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.2930C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.2930C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.2930C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.2930C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.2930C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.2930C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.2930C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.2930C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.2930C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.2930C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.2930C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.2930C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.2930C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.2930C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.2930C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_7|ENST00000262738|protein_coding|1/35|c.2930C>T||||||,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1C>T|||||41| 22 46930205 . G A . . ANN=A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.2863C>T|p.Arg955Trp|2863/11389|2863/9045|955/3014||,A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.2863C>T|p.Arg955Trp|2863/4194|2863/4194|955/1397||,A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|1/3|c.985C>T|p.Arg329Trp|987/2446|985/2316|329/771||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.2863C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.2863C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.2863C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.2863C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.2863C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.2863C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.2863C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.2863C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.2863C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.2863C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.2863C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.2863C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.2863C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.2863C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.2863C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.2863C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.2863C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.2863C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.2863C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.2863C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.2863C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.2863C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.2863C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.2863C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_7|ENST00000262738|protein_coding|1/35|c.2863C>T||||||,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1C>T|||||108| 22 46930227 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.2841C>T|p.Ser947Ser|2841/11389|2841/9045|947/3014||,A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.2841C>T|p.Ser947Ser|2841/4194|2841/4194|947/1397||,A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|1/3|c.963C>T|p.Ser321Ser|965/2446|963/2316|321/771||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.2841C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.2841C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.2841C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.2841C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.2841C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.2841C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.2841C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.2841C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.2841C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.2841C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.2841C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.2841C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.2841C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.2841C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.2841C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.2841C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.2841C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.2841C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.2841C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.2841C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.2841C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.2841C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.2841C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.2841C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_7|ENST00000262738|protein_coding|1/35|c.2841C>T||||||,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1C>T|||||130| 22 46930297 . T C . . ANN=C|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.2771A>G|p.Asn924Ser|2771/11389|2771/9045|924/3014||,C|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.2771A>G|p.Asn924Ser|2771/4194|2771/4194|924/1397||,C|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|1/3|c.893A>G|p.Asn298Ser|895/2446|893/2316|298/771||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.2771A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.2771A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.2771A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.2771A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.2771A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.2771A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.2771A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.2771A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.2771A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.2771A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.2771A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.2771A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.2771A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.2771A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.2771A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.2771A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.2771A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.2771A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.2771A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.2771A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.2771A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.2771A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.2771A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.2771A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_7|ENST00000262738|protein_coding|1/35|c.2771A>G||||||,C|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1A>G|||||200| 22 46930313 . G A . . ANN=A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.2755C>T|p.Arg919Trp|2755/11389|2755/9045|919/3014||,A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.2755C>T|p.Arg919Trp|2755/4194|2755/4194|919/1397||,A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|1/3|c.877C>T|p.Arg293Trp|879/2446|877/2316|293/771||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.2755C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.2755C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.2755C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.2755C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.2755C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.2755C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.2755C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.2755C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.2755C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.2755C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.2755C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.2755C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.2755C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.2755C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.2755C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.2755C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.2755C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.2755C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.2755C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.2755C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.2755C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.2755C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.2755C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.2755C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_7|ENST00000262738|protein_coding|1/35|c.2755C>T||||||,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1C>T|||||216| 22 46930444 . G A . . ANN=A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.2624C>T|p.Thr875Ile|2624/11389|2624/9045|875/3014||,A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.2624C>T|p.Thr875Ile|2624/4194|2624/4194|875/1397||,A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|1/3|c.746C>T|p.Thr249Ile|748/2446|746/2316|249/771||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.2624C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.2624C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.2624C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.2624C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.2624C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.2624C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.2624C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.2624C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.2624C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.2624C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.2624C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.2624C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.2624C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.2624C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.2624C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.2624C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.2624C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.2624C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.2624C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.2624C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.2624C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.2624C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.2624C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.2624C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_6|ENST00000262738|protein_coding|1/35|c.2624C>T||||||,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1C>T|||||347| 22 46930589 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.2479G>A|p.Val827Met|2479/11389|2479/9045|827/3014||,T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.2479G>A|p.Val827Met|2479/4194|2479/4194|827/1397||,T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|1/3|c.601G>A|p.Val201Met|603/2446|601/2316|201/771||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.2479G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.2479G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.2479G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.2479G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.2479G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.2479G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.2479G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.2479G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.2479G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.2479G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.2479G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.2479G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.2479G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.2479G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.2479G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.2479G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.2479G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.2479G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.2479G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.2479G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.2479G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.2479G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.2479G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.2479G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_6|ENST00000262738|protein_coding|1/35|c.2479G>A||||||,T|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1G>A|||||492| 22 46930733 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.2335G>A|p.Val779Ile|2335/11389|2335/9045|779/3014||,T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.2335G>A|p.Val779Ile|2335/4194|2335/4194|779/1397||,T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|1/3|c.457G>A|p.Val153Ile|459/2446|457/2316|153/771||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.2335G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.2335G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.2335G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.2335G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.2335G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.2335G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.2335G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.2335G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.2335G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.2335G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.2335G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.2335G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.2335G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.2335G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.2335G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.2335G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.2335G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.2335G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.2335G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.2335G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.2335G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.2335G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.2335G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.2335G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_5|ENST00000262738|protein_coding|1/35|c.2335G>A||||||,T|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1G>A|||||636| 22 46930736 . T G . . ANN=G|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.2332A>C|p.Asn778His|2332/11389|2332/9045|778/3014||,G|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.2332A>C|p.Asn778His|2332/4194|2332/4194|778/1397||,G|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|1/3|c.454A>C|p.Asn152His|456/2446|454/2316|152/771||WARNING_TRANSCRIPT_NO_START_CODON,G|sequence_feature|MODERATE|CELSR1|ENSG00000075275|glycosylation_site:N-linked__GlcNAc..._|ENST00000262738|protein_coding|1/35|c.2332A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.2332A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.2332A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.2332A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.2332A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.2332A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.2332A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.2332A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.2332A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.2332A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.2332A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.2332A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.2332A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.2332A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.2332A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.2332A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.2332A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.2332A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.2332A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.2332A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.2332A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.2332A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.2332A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.2332A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.2332A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_5|ENST00000262738|protein_coding|1/35|c.2332A>C||||||,G|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1A>C|||||639| 22 46930750 . G A . . ANN=A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.2318C>T|p.Ala773Val|2318/11389|2318/9045|773/3014||,A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.2318C>T|p.Ala773Val|2318/4194|2318/4194|773/1397||,A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|1/3|c.440C>T|p.Ala147Val|442/2446|440/2316|147/771||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.2318C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.2318C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.2318C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.2318C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.2318C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.2318C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.2318C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.2318C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.2318C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.2318C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.2318C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.2318C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.2318C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.2318C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.2318C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.2318C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.2318C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.2318C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.2318C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.2318C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.2318C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.2318C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.2318C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.2318C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_5|ENST00000262738|protein_coding|1/35|c.2318C>T||||||,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1C>T|||||653| 22 46930754 . T C . . ANN=C|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.2314A>G|p.Thr772Ala|2314/11389|2314/9045|772/3014||,C|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.2314A>G|p.Thr772Ala|2314/4194|2314/4194|772/1397||,C|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|1/3|c.436A>G|p.Thr146Ala|438/2446|436/2316|146/771||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.2314A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.2314A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.2314A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.2314A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.2314A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.2314A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.2314A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.2314A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.2314A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.2314A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.2314A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.2314A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.2314A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.2314A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.2314A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.2314A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.2314A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.2314A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.2314A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.2314A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.2314A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.2314A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.2314A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.2314A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_5|ENST00000262738|protein_coding|1/35|c.2314A>G||||||,C|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1A>G|||||657| 22 46930794 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.2274C>T|p.Tyr758Tyr|2274/11389|2274/9045|758/3014||,A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.2274C>T|p.Tyr758Tyr|2274/4194|2274/4194|758/1397||,A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|1/3|c.396C>T|p.Tyr132Tyr|398/2446|396/2316|132/771||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.2274C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.2274C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.2274C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.2274C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.2274C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.2274C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.2274C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.2274C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.2274C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.2274C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.2274C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.2274C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.2274C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.2274C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.2274C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.2274C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.2274C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.2274C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.2274C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.2274C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.2274C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.2274C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.2274C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.2274C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_5|ENST00000262738|protein_coding|1/35|c.2274C>T||||||,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1C>T|||||697| 22 46930872 . G T . . ANN=T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.2196C>A|p.Arg732Arg|2196/11389|2196/9045|732/3014||,T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.2196C>A|p.Arg732Arg|2196/4194|2196/4194|732/1397||,T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|1/3|c.318C>A|p.Arg106Arg|320/2446|318/2316|106/771||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.2196C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.2196C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.2196C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.2196C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.2196C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.2196C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.2196C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.2196C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.2196C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.2196C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.2196C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.2196C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.2196C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.2196C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.2196C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.2196C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.2196C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.2196C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.2196C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.2196C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.2196C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.2196C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.2196C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.2196C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_5|ENST00000262738|protein_coding|1/35|c.2196C>A||||||,T|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1C>A|||||775| 22 46930934 . G A . . ANN=A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.2134C>T|p.Arg712Cys|2134/11389|2134/9045|712/3014||,A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.2134C>T|p.Arg712Cys|2134/4194|2134/4194|712/1397||,A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|1/3|c.256C>T|p.Arg86Cys|258/2446|256/2316|86/771||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.2134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.2134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.2134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.2134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.2134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.2134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.2134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.2134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.2134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.2134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.2134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.2134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.2134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.2134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.2134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.2134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.2134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.2134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.2134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.2134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.2134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.2134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.2134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.2134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_5|ENST00000262738|protein_coding|1/35|c.2134C>T||||||,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1C>T|||||837| 22 46930953 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.2115C>T|p.Ser705Ser|2115/11389|2115/9045|705/3014||,A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.2115C>T|p.Ser705Ser|2115/4194|2115/4194|705/1397||,A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|1/3|c.237C>T|p.Ser79Ser|239/2446|237/2316|79/771||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.2115C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.2115C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.2115C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.2115C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.2115C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.2115C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.2115C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.2115C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.2115C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.2115C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.2115C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.2115C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.2115C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.2115C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.2115C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.2115C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.2115C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.2115C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.2115C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.2115C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.2115C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.2115C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.2115C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.2115C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_5|ENST00000262738|protein_coding|1/35|c.2115C>T||||||,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1C>T|||||856| 22 46931004 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.2064G>A|p.Thr688Thr|2064/11389|2064/9045|688/3014||,T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.2064G>A|p.Thr688Thr|2064/4194|2064/4194|688/1397||,T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|1/3|c.186G>A|p.Thr62Thr|188/2446|186/2316|62/771||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.2064G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.2064G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.2064G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.2064G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.2064G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.2064G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.2064G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.2064G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.2064G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.2064G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.2064G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.2064G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.2064G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.2064G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.2064G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.2064G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.2064G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.2064G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.2064G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.2064G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.2064G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.2064G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.2064G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.2064G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_5|ENST00000262738|protein_coding|1/35|c.2064G>A||||||,T|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1G>A|||||907| 22 46931052 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.2016C>T|p.Ser672Ser|2016/11389|2016/9045|672/3014||,A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.2016C>T|p.Ser672Ser|2016/4194|2016/4194|672/1397||,A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|1/3|c.138C>T|p.Ser46Ser|140/2446|138/2316|46/771||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.2016C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.2016C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.2016C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.2016C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.2016C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.2016C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.2016C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.2016C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.2016C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.2016C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.2016C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.2016C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.2016C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.2016C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.2016C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.2016C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.2016C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.2016C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.2016C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.2016C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.2016C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.2016C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.2016C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.2016C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_4|ENST00000262738|protein_coding|1/35|c.2016C>T||||||,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1C>T|||||955| 22 46931077 . G C . . ANN=C|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.1991C>G|p.Ser664Trp|1991/11389|1991/9045|664/3014||,C|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.1991C>G|p.Ser664Trp|1991/4194|1991/4194|664/1397||,C|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|1/3|c.113C>G|p.Ser38Trp|115/2446|113/2316|38/771||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.1991C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.1991C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.1991C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.1991C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.1991C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.1991C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.1991C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.1991C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.1991C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.1991C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.1991C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.1991C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.1991C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.1991C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.1991C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.1991C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.1991C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.1991C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.1991C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.1991C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.1991C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.1991C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.1991C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.1991C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_4|ENST00000262738|protein_coding|1/35|c.1991C>G||||||,C|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1C>G|||||980| 22 46931124 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.1944G>A|p.Glu648Glu|1944/11389|1944/9045|648/3014||,T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.1944G>A|p.Glu648Glu|1944/4194|1944/4194|648/1397||,T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|1/3|c.66G>A|p.Glu22Glu|68/2446|66/2316|22/771||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.1944G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.1944G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.1944G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.1944G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.1944G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.1944G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.1944G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.1944G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.1944G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.1944G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.1944G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.1944G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.1944G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.1944G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.1944G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.1944G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.1944G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.1944G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.1944G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.1944G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.1944G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.1944G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.1944G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.1944G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_4|ENST00000262738|protein_coding|1/35|c.1944G>A||||||,T|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1G>A|||||1027| 22 46931145 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.1923G>A|p.Val641Val|1923/11389|1923/9045|641/3014||,T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.1923G>A|p.Val641Val|1923/4194|1923/4194|641/1397||,T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|1/3|c.45G>A|p.Val15Val|47/2446|45/2316|15/771||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.1923G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.1923G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.1923G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.1923G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.1923G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.1923G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.1923G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.1923G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.1923G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.1923G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.1923G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.1923G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.1923G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.1923G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.1923G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.1923G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.1923G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.1923G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.1923G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.1923G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.1923G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.1923G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.1923G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.1923G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_4|ENST00000262738|protein_coding|1/35|c.1923G>A||||||,T|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1G>A|||||1048| 22 46931187 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.1881C>T|p.Asp627Asp|1881/11389|1881/9045|627/3014||,A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.1881C>T|p.Asp627Asp|1881/4194|1881/4194|627/1397||,A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|1/3|c.3C>T|p.Asp1Asp|5/2446|3/2316|1/771||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.1881C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.1881C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.1881C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.1881C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.1881C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.1881C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.1881C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.1881C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.1881C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.1881C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.1881C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.1881C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.1881C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.1881C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.1881C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.1881C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.1881C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.1881C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.1881C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.1881C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.1881C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.1881C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.1881C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.1881C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_4|ENST00000262738|protein_coding|1/35|c.1881C>T||||||,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1C>T|||||1090| 22 46931219 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.1849G>A|p.Ala617Thr|1849/11389|1849/9045|617/3014||,T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.1849G>A|p.Ala617Thr|1849/4194|1849/4194|617/1397||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.1849G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.1849G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.1849G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.1849G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.1849G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.1849G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.1849G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.1849G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.1849G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.1849G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.1849G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.1849G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.1849G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.1849G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.1849G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.1849G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.1849G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.1849G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.1849G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.1849G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.1849G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.1849G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.1849G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.1849G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_4|ENST00000262738|protein_coding|1/35|c.1849G>A||||||,T|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding||c.-3G>A|||||28|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1G>A|||||1122| 22 46931247 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.1821G>A|p.Thr607Thr|1821/11389|1821/9045|607/3014||,T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.1821G>A|p.Thr607Thr|1821/4194|1821/4194|607/1397||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.1821G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.1821G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.1821G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.1821G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.1821G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.1821G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.1821G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.1821G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.1821G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.1821G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.1821G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.1821G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.1821G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.1821G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.1821G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.1821G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.1821G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.1821G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.1821G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.1821G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.1821G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.1821G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.1821G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.1821G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_4|ENST00000262738|protein_coding|1/35|c.1821G>A||||||,T|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding||c.-3G>A|||||56|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1G>A|||||1150| 22 46931267 . G A . . ANN=A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.1801C>T|p.His601Tyr|1801/11389|1801/9045|601/3014||,A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.1801C>T|p.His601Tyr|1801/4194|1801/4194|601/1397||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.1801C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.1801C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.1801C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.1801C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.1801C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.1801C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.1801C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.1801C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.1801C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.1801C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.1801C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.1801C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.1801C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.1801C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.1801C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.1801C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.1801C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.1801C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.1801C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.1801C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.1801C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.1801C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.1801C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.1801C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_4|ENST00000262738|protein_coding|1/35|c.1801C>T||||||,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding||c.-3C>T|||||76|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1C>T|||||1170| 22 46931292 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.1776G>A|p.Ala592Ala|1776/11389|1776/9045|592/3014||,T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.1776G>A|p.Ala592Ala|1776/4194|1776/4194|592/1397||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.1776G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.1776G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.1776G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.1776G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.1776G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.1776G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.1776G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.1776G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.1776G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.1776G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.1776G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.1776G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.1776G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.1776G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.1776G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.1776G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.1776G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.1776G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.1776G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.1776G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.1776G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.1776G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.1776G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.1776G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_4|ENST00000262738|protein_coding|1/35|c.1776G>A||||||,T|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding||c.-3G>A|||||101|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1G>A|||||1195| 22 46931309 . T C . . ANN=C|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.1759A>G|p.Ile587Val|1759/11389|1759/9045|587/3014||,C|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.1759A>G|p.Ile587Val|1759/4194|1759/4194|587/1397||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.1759A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.1759A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.1759A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.1759A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.1759A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.1759A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.1759A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.1759A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.1759A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.1759A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.1759A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.1759A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.1759A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.1759A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.1759A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.1759A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.1759A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.1759A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.1759A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.1759A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.1759A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.1759A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.1759A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.1759A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_4|ENST00000262738|protein_coding|1/35|c.1759A>G||||||,C|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding||c.-3A>G|||||118|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1A>G|||||1212| 22 46931402 . G C . . ANN=C|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.1666C>G|p.Leu556Val|1666/11389|1666/9045|556/3014||,C|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.1666C>G|p.Leu556Val|1666/4194|1666/4194|556/1397||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.1666C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.1666C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.1666C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.1666C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.1666C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.1666C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.1666C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.1666C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.1666C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.1666C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.1666C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.1666C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.1666C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.1666C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.1666C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.1666C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.1666C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.1666C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.1666C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.1666C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.1666C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.1666C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.1666C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.1666C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_3|ENST00000262738|protein_coding|1/35|c.1666C>G||||||,C|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding||c.-3C>G|||||211|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1C>G|||||1305| 22 46931472 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.1596G>A|p.Leu532Leu|1596/11389|1596/9045|532/3014||,T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.1596G>A|p.Leu532Leu|1596/4194|1596/4194|532/1397||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.1596G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.1596G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.1596G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.1596G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.1596G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.1596G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.1596G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.1596G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.1596G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.1596G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.1596G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.1596G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.1596G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.1596G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.1596G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.1596G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.1596G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.1596G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.1596G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.1596G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.1596G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.1596G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.1596G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.1596G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_3|ENST00000262738|protein_coding|1/35|c.1596G>A||||||,T|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding||c.-3G>A|||||281|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1G>A|||||1375| 22 46931599 . T C . . ANN=C|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.1469A>G|p.Gln490Arg|1469/11389|1469/9045|490/3014||,C|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.1469A>G|p.Gln490Arg|1469/4194|1469/4194|490/1397||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.1469A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.1469A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.1469A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.1469A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.1469A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.1469A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.1469A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.1469A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.1469A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.1469A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.1469A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.1469A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.1469A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.1469A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.1469A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.1469A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.1469A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.1469A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.1469A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.1469A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.1469A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.1469A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.1469A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.1469A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_3|ENST00000262738|protein_coding|1/35|c.1469A>G||||||,C|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding||c.-3A>G|||||408|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1A>G|||||1502| 22 46931700 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.1368C>T|p.Tyr456Tyr|1368/11389|1368/9045|456/3014||,A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.1368C>T|p.Tyr456Tyr|1368/4194|1368/4194|456/1397||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.1368C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.1368C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.1368C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.1368C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.1368C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.1368C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.1368C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.1368C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.1368C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.1368C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.1368C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.1368C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.1368C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.1368C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.1368C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.1368C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.1368C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.1368C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.1368C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.1368C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.1368C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.1368C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.1368C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.1368C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_2|ENST00000262738|protein_coding|1/35|c.1368C>T||||||,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding||c.-3C>T|||||509|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1C>T|||||1603| 22 46931742 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.1326G>A|p.Thr442Thr|1326/11389|1326/9045|442/3014||,T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.1326G>A|p.Thr442Thr|1326/4194|1326/4194|442/1397||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.1326G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.1326G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.1326G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.1326G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.1326G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.1326G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.1326G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.1326G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.1326G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.1326G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.1326G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.1326G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.1326G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.1326G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.1326G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.1326G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.1326G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.1326G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.1326G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.1326G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.1326G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.1326G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.1326G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.1326G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_2|ENST00000262738|protein_coding|1/35|c.1326G>A||||||,T|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding||c.-3G>A|||||551|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1G>A|||||1645| 22 46931793 . G C . . ANN=C|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.1275C>G|p.Leu425Leu|1275/11389|1275/9045|425/3014||,C|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.1275C>G|p.Leu425Leu|1275/4194|1275/4194|425/1397||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.1275C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.1275C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.1275C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.1275C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.1275C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.1275C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.1275C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.1275C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.1275C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.1275C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.1275C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.1275C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.1275C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.1275C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.1275C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.1275C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.1275C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.1275C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.1275C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.1275C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.1275C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.1275C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.1275C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.1275C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_2|ENST00000262738|protein_coding|1/35|c.1275C>G||||||,C|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding||c.-3C>G|||||602|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1C>G|||||1696| 22 46931838 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.1230C>T|p.Ser410Ser|1230/11389|1230/9045|410/3014||,A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.1230C>T|p.Ser410Ser|1230/4194|1230/4194|410/1397||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.1230C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.1230C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.1230C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.1230C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.1230C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.1230C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.1230C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.1230C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.1230C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.1230C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.1230C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.1230C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.1230C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.1230C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.1230C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.1230C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.1230C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.1230C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.1230C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.1230C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.1230C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.1230C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.1230C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.1230C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_2|ENST00000262738|protein_coding|1/35|c.1230C>T||||||,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding||c.-3C>T|||||647|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1C>T|||||1741| 22 46931953 . A G . . ANN=G|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.1115T>C|p.Val372Ala|1115/11389|1115/9045|372/3014||,G|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.1115T>C|p.Val372Ala|1115/4194|1115/4194|372/1397||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.1115T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.1115T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.1115T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.1115T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.1115T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.1115T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.1115T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.1115T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.1115T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.1115T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.1115T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.1115T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.1115T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.1115T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.1115T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.1115T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.1115T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.1115T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.1115T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.1115T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.1115T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.1115T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.1115T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.1115T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_2|ENST00000262738|protein_coding|1/35|c.1115T>C||||||,G|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding||c.-3T>C|||||762|WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1T>C|||||1856| 22 46932003 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.1065G>A|p.Gln355Gln|1065/11389|1065/9045|355/3014||,T|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.1065G>A|p.Gln355Gln|1065/4194|1065/4194|355/1397||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.1065G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.1065G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.1065G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.1065G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.1065G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.1065G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.1065G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.1065G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.1065G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.1065G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.1065G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.1065G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.1065G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.1065G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.1065G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.1065G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.1065G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.1065G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.1065G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.1065G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.1065G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.1065G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.1065G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.1065G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_2|ENST00000262738|protein_coding|1/35|c.1065G>A||||||,T|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding||c.-3G>A|||||812|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1G>A|||||1906| 22 46932030 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.1038C>T|p.Thr346Thr|1038/11389|1038/9045|346/3014||,A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.1038C>T|p.Thr346Thr|1038/4194|1038/4194|346/1397||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.1038C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.1038C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.1038C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.1038C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.1038C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.1038C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.1038C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.1038C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.1038C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.1038C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.1038C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.1038C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.1038C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.1038C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.1038C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.1038C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.1038C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.1038C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.1038C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.1038C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.1038C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.1038C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.1038C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.1038C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_1|ENST00000262738|protein_coding|1/35|c.1038C>T||||||,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding||c.-3C>T|||||839|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1C>T|||||1933| 22 46932032 . T A . . ANN=A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.1036A>T|p.Thr346Ser|1036/11389|1036/9045|346/3014||,A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.1036A>T|p.Thr346Ser|1036/4194|1036/4194|346/1397||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.1036A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.1036A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.1036A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.1036A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.1036A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.1036A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.1036A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.1036A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.1036A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.1036A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.1036A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.1036A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.1036A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.1036A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.1036A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.1036A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.1036A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.1036A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.1036A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.1036A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.1036A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.1036A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.1036A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.1036A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_1|ENST00000262738|protein_coding|1/35|c.1036A>T||||||,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding||c.-3A>T|||||841|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1A>T|||||1935| 22 46932104 . T C . . ANN=C|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.964A>G|p.Arg322Gly|964/11389|964/9045|322/3014||,C|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.964A>G|p.Arg322Gly|964/4194|964/4194|322/1397||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.964A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.964A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.964A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.964A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.964A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.964A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.964A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.964A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.964A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.964A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.964A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.964A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.964A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.964A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.964A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.964A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.964A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.964A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.964A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.964A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.964A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.964A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.964A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.964A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_1|ENST00000262738|protein_coding|1/35|c.964A>G||||||,C|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding||c.-3A>G|||||913|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1A>G|||||2007| 22 46932174 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.894C>T|p.Ile298Ile|894/11389|894/9045|298/3014||,A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.894C>T|p.Ile298Ile|894/4194|894/4194|298/1397||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.894C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.894C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.894C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.894C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.894C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.894C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.894C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.894C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.894C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.894C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.894C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.894C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.894C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.894C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.894C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.894C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.894C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.894C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.894C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.894C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.894C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.894C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.894C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.894C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_1|ENST00000262738|protein_coding|1/35|c.894C>T||||||,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding||c.-3C>T|||||983|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1C>T|||||2077| 22 46932318 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.750C>T|p.Tyr250Tyr|750/11389|750/9045|250/3014||,A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.750C>T|p.Tyr250Tyr|750/4194|750/4194|250/1397||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.750C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.750C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.750C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.750C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.750C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.750C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.750C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.750C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.750C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.750C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.750C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.750C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.750C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.750C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.750C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.750C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.750C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.750C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.750C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.750C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.750C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.750C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.750C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.750C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_1|ENST00000262738|protein_coding|1/35|c.750C>T||||||,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding||c.-3C>T|||||1127|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1C>T|||||2221| 22 46932339 . C A . . ANN=A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.729G>T|p.Leu243Leu|729/11389|729/9045|243/3014||,A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.729G>T|p.Leu243Leu|729/4194|729/4194|243/1397||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.729G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.729G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.729G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.729G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.729G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.729G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.729G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.729G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.729G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.729G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.729G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.729G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.729G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.729G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.729G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.729G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.729G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.729G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.729G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.729G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.729G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.729G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.729G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.729G>T||||||,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding||c.-3G>T|||||1148|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1G>T|||||2242| 22 46932854 . G A . . ANN=A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.214C>T|p.Arg72Trp|214/11389|214/9045|72/3014||,A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.214C>T|p.Arg72Trp|214/4194|214/4194|72/1397||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.214C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.214C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.214C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.214C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.214C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.214C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.214C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.214C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.214C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.214C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.214C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.214C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.214C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.214C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.214C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.214C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.214C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.214C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.214C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.214C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.214C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.214C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.214C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.214C>T||||||,A|upstream_gene_variant|MODIFIER|RP3-439F8.1|ENSG00000234869|transcript|ENST00000426112|antisense||n.-1G>A|||||4538|,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding||c.-3C>T|||||1663|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1C>T|||||2757| 22 47022655 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000447351|protein_coding|2/3|c.-42G>A|||||42|WARNING_TRANSCRIPT_INCOMPLETE,A|5_prime_UTR_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000431155|protein_coding|2/2|c.-42G>A|||||42|WARNING_TRANSCRIPT_INCOMPLETE,A|5_prime_UTR_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|2/19|c.-42G>A|||||42|,A|upstream_gene_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding||c.-40G>A|||||3|,A|upstream_gene_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000490378|processed_transcript||n.-1G>A|||||85| 22 47022691 . C T . . ANN=T|5_prime_UTR_premature_start_codon_gain_variant|LOW|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|1/18|c.-6C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|GRAMD4|ENSG00000075240|transcript|ENST00000447351|protein_coding|2/3|c.-6C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|GRAMD4|ENSG00000075240|transcript|ENST00000431155|protein_coding|2/2|c.-6C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|2/19|c.-6C>T||||||,T|5_prime_UTR_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|1/18|c.-6C>T|||||6|,T|5_prime_UTR_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000447351|protein_coding|2/3|c.-6C>T|||||6|WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000431155|protein_coding|2/2|c.-6C>T|||||6|WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|2/19|c.-6C>T|||||6|,T|upstream_gene_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000490378|processed_transcript||n.-1C>T|||||49| 22 47022814 . G T . . ANN=T|splice_donor_variant&intron_variant|HIGH|GRAMD4|ENSG00000075240|transcript|ENST00000490378|processed_transcript|1/1|n.74+1G>T||||||,T|missense_variant|MODERATE|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|1/18|c.118G>T|p.Val40Leu|157/4316|118/1737|40/578||,T|missense_variant|MODERATE|GRAMD4|ENSG00000075240|transcript|ENST00000447351|protein_coding|2/3|c.118G>T|p.Val40Leu|234/375|118/259|40/85||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|2/19|c.118G>T|p.Val40Leu|331/4484|118/1737|40/578||,T|downstream_gene_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000431155|protein_coding||c.*311G>T|||||18|WARNING_TRANSCRIPT_INCOMPLETE 22 47022827 . C T . . ANN=T|missense_variant|MODERATE|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|1/18|c.131C>T|p.Ser44Leu|170/4316|131/1737|44/578||,T|missense_variant|MODERATE|GRAMD4|ENSG00000075240|transcript|ENST00000447351|protein_coding|2/3|c.131C>T|p.Ser44Leu|247/375|131/259|44/85||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|2/19|c.131C>T|p.Ser44Leu|344/4484|131/1737|44/578||,T|downstream_gene_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000431155|protein_coding||c.*311C>T|||||31|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000490378|processed_transcript|1/1|n.74+14C>T|||||| 22 47022877 . C T . . ANN=T|downstream_gene_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000431155|protein_coding||c.*311C>T|||||81|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|1/17|c.162+19C>T||||||,T|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000447351|protein_coding|2/2|c.162+19C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|2/18|c.162+19C>T||||||,T|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000490378|processed_transcript|1/1|n.74+64C>T|||||| 22 47022889 . G A . . ANN=A|downstream_gene_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000431155|protein_coding||c.*311G>A|||||93|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|1/17|c.162+31G>A||||||,A|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000447351|protein_coding|2/2|c.162+31G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|2/18|c.162+31G>A||||||,A|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000490378|processed_transcript|1/1|n.74+76G>A|||||| 22 47033693 . G A . . ANN=A|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|1/17|c.163-44G>A||||||,A|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000447351|protein_coding|2/2|c.163-44G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|2/18|c.163-44G>A||||||,A|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000490378|processed_transcript|1/1|n.75-44G>A|||||| 22 47033714 . A T . . ANN=T|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|1/17|c.163-23A>T||||||,T|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000447351|protein_coding|2/2|c.163-23A>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|2/18|c.163-23A>T||||||,T|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000490378|processed_transcript|1/1|n.75-23A>T|||||| 22 47033901 . CA C . . ANN=|sequence_feature|LOW|GRAMD4|ENSG00000075240|coiled-coil_region|ENST00000361034|protein_coding|3/18|c.283+45delA||||||,|sequence_feature|LOW|GRAMD4|ENSG00000075240|coiled-coil_region|ENST00000361034|protein_coding|4/18|c.283+45delA||||||,|sequence_feature|LOW|GRAMD4|ENSG00000075240|coiled-coil_region|ENST00000361034|protein_coding|2/18|c.283+45delA||||||,|downstream_gene_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000447351|protein_coding||c.*375delA|||||69|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000490378|processed_transcript||n.*193delA|||||47|,|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|2/17|c.283+45delA||||||,|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|3/18|c.283+45delA|||||| 22 47054038 . C G . . ANN=G|sequence_feature|LOW|GRAMD4|ENSG00000075240|coiled-coil_region|ENST00000361034|protein_coding|3/18|c.284-46C>G||||||,G|sequence_feature|LOW|GRAMD4|ENSG00000075240|coiled-coil_region|ENST00000361034|protein_coding|4/18|c.284-46C>G||||||,G|sequence_feature|LOW|GRAMD4|ENSG00000075240|coiled-coil_region|ENST00000361034|protein_coding|2/18|c.284-46C>G||||||,G|upstream_gene_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000456069|protein_coding||c.-2C>G|||||4966|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|2/17|c.284-46C>G||||||,G|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|3/18|c.284-46C>G|||||| 22 47054058 . T C . . ANN=C|sequence_feature|LOW|GRAMD4|ENSG00000075240|coiled-coil_region|ENST00000361034|protein_coding|3/18|c.284-26T>C||||||,C|sequence_feature|LOW|GRAMD4|ENSG00000075240|coiled-coil_region|ENST00000361034|protein_coding|4/18|c.284-26T>C||||||,C|sequence_feature|LOW|GRAMD4|ENSG00000075240|coiled-coil_region|ENST00000361034|protein_coding|2/18|c.284-26T>C||||||,C|upstream_gene_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000456069|protein_coding||c.-2T>C|||||4946|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|2/17|c.284-26T>C||||||,C|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|3/18|c.284-26T>C|||||| 22 47057231 . G T . . ANN=T|sequence_feature|LOW|GRAMD4|ENSG00000075240|coiled-coil_region|ENST00000361034|protein_coding|3/18|c.405-47G>T||||||,T|sequence_feature|LOW|GRAMD4|ENSG00000075240|coiled-coil_region|ENST00000361034|protein_coding|4/18|c.405-47G>T||||||,T|sequence_feature|LOW|GRAMD4|ENSG00000075240|coiled-coil_region|ENST00000361034|protein_coding|2/18|c.405-47G>T||||||,T|upstream_gene_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000456069|protein_coding||c.-2G>T|||||1773|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|3/17|c.405-47G>T||||||,T|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|4/18|c.405-47G>T|||||| 22 47058897 . C T . . ANN=T|upstream_gene_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000456069|protein_coding||c.-2C>T|||||107|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|4/17|c.467-40C>T||||||,T|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|5/18|c.467-40C>T|||||| 22 47058903 . T G . . ANN=G|upstream_gene_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000456069|protein_coding||c.-2T>G|||||101|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|4/17|c.467-34T>G||||||,G|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|5/18|c.467-34T>G|||||| 22 47058918 . G A . . ANN=A|upstream_gene_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000456069|protein_coding||c.-2G>A|||||86|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|4/17|c.467-19G>A||||||,A|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|5/18|c.467-19G>A|||||| 22 47058954 . C T . . ANN=T|synonymous_variant|LOW|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|5/18|c.484C>T|p.Leu162Leu|523/4316|484/1737|162/578||,T|synonymous_variant|LOW|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|6/19|c.484C>T|p.Leu162Leu|697/4484|484/1737|162/578||,T|upstream_gene_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000456069|protein_coding||c.-2C>T|||||50|WARNING_TRANSCRIPT_INCOMPLETE 22 47058973 . A G . . ANN=G|missense_variant|MODERATE|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|5/18|c.503A>G|p.Lys168Arg|542/4316|503/1737|168/578||,G|missense_variant|MODERATE|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|6/19|c.503A>G|p.Lys168Arg|716/4484|503/1737|168/578||,G|sequence_feature|MODERATE|GRAMD4|ENSG00000075240|cross-link:Glycyl_lysine_isopeptide__Lys-Gly___interchain_with_G-Cter_in_ubiquitin_|ENST00000361034|protein_coding|5/18|c.503A>G||||||,G|upstream_gene_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000456069|protein_coding||c.-2A>G|||||31|WARNING_TRANSCRIPT_INCOMPLETE 22 47058992 . T C . . ANN=C|synonymous_variant|LOW|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|5/18|c.522T>C|p.Phe174Phe|561/4316|522/1737|174/578||,C|synonymous_variant|LOW|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|6/19|c.522T>C|p.Phe174Phe|735/4484|522/1737|174/578||,C|upstream_gene_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000456069|protein_coding||c.-2T>C|||||12|WARNING_TRANSCRIPT_INCOMPLETE 22 47059001 . C T . . ANN=T|synonymous_variant|LOW|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|5/18|c.531C>T|p.Tyr177Tyr|570/4316|531/1737|177/578||,T|synonymous_variant|LOW|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|6/19|c.531C>T|p.Tyr177Tyr|744/4484|531/1737|177/578||,T|upstream_gene_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000456069|protein_coding||c.-2C>T|||||3|WARNING_TRANSCRIPT_INCOMPLETE 22 47059773 . G A . . ANN=A|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|6/17|c.625+13G>A||||||,A|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|7/18|c.625+13G>A||||||,A|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000456069|protein_coding|2/8|c.91+13G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 47059939 . G A . . ANN=A|synonymous_variant|LOW|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|7/18|c.642G>A|p.Pro214Pro|681/4316|642/1737|214/578||,A|synonymous_variant|LOW|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|8/19|c.642G>A|p.Pro214Pro|855/4484|642/1737|214/578||,A|synonymous_variant|LOW|GRAMD4|ENSG00000075240|transcript|ENST00000456069|protein_coding|3/9|c.108G>A|p.Pro36Pro|109/669|108/668|36/221||WARNING_TRANSCRIPT_INCOMPLETE 22 47060025 . C A . . ANN=A|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|7/17|c.717+11C>A||||||,A|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|8/18|c.717+11C>A||||||,A|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000456069|protein_coding|3/8|c.183+11C>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 47060037 . G A . . ANN=A|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|7/17|c.717+23G>A||||||,A|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|8/18|c.717+23G>A||||||,A|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000456069|protein_coding|3/8|c.183+23G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 47061641 . C T . . ANN=T|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|8/17|c.809+38C>T||||||,T|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|9/18|c.809+38C>T||||||,T|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000456069|protein_coding|4/8|c.275+38C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 47062801 . C T . . ANN=T|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|9/17|c.858+31C>T||||||,T|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|10/18|c.858+31C>T||||||,T|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000456069|protein_coding|5/8|c.324+31C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 47063961 . A C . . ANN=C|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|9/17|c.859-32A>C||||||,C|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|10/18|c.859-32A>C||||||,C|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000456069|protein_coding|5/8|c.325-32A>C||||||WARNING_TRANSCRIPT_INCOMPLETE 22 47063963 . T C . . ANN=C|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|9/17|c.859-30T>C||||||,C|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|10/18|c.859-30T>C||||||,C|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000456069|protein_coding|5/8|c.325-30T>C||||||WARNING_TRANSCRIPT_INCOMPLETE 22 47064052 . C T . . ANN=T|synonymous_variant|LOW|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|10/18|c.918C>T|p.Ala306Ala|957/4316|918/1737|306/578||,T|synonymous_variant|LOW|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|11/19|c.918C>T|p.Ala306Ala|1131/4484|918/1737|306/578||,T|synonymous_variant|LOW|GRAMD4|ENSG00000075240|transcript|ENST00000456069|protein_coding|6/9|c.384C>T|p.Ala128Ala|385/669|384/668|128/221||WARNING_TRANSCRIPT_INCOMPLETE 22 47064075 . G A . . ANN=A|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|10/17|c.930+11G>A||||||,A|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|11/18|c.930+11G>A||||||,A|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000456069|protein_coding|6/8|c.396+11G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 47064082 . GGCCAGGGGTGTGTCTGCGCCAGCCATGGGCACCA G . . ANN=|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|10/17|c.930+34_930+67delGCGCCAGCCATGGGCACCAGCCAGGGGTGTGTCT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|11/18|c.930+34_930+67delGCGCCAGCCATGGGCACCAGCCAGGGGTGTGTCT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000456069|protein_coding|6/8|c.396+34_396+67delGCGCCAGCCATGGGCACCAGCCAGGGGTGTGTCT||||||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME 22 47064617 . A T . . ANN=T|missense_variant|MODERATE|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|11/18|c.962A>T|p.Glu321Val|1001/4316|962/1737|321/578||,T|missense_variant|MODERATE|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|12/19|c.962A>T|p.Glu321Val|1175/4484|962/1737|321/578||,T|missense_variant|MODERATE|GRAMD4|ENSG00000075240|transcript|ENST00000456069|protein_coding|7/9|c.428A>T|p.Glu143Val|429/669|428/668|143/221||WARNING_TRANSCRIPT_INCOMPLETE 22 47064665 . C T . . ANN=T|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|11/17|c.975-31C>T||||||,T|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|12/18|c.975-31C>T||||||,T|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000456069|protein_coding|7/8|c.441-31C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 47064670 . G A . . ANN=A|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|11/17|c.975-26G>A||||||,A|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|12/18|c.975-26G>A||||||,A|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000456069|protein_coding|7/8|c.441-26G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 47064678 . C T . . ANN=T|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|11/17|c.975-18C>T||||||,T|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|12/18|c.975-18C>T||||||,T|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000456069|protein_coding|7/8|c.441-18C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 47064743 . C T . . ANN=T|missense_variant|MODERATE|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|12/18|c.1022C>T|p.Ala341Val|1061/4316|1022/1737|341/578||,T|missense_variant|MODERATE|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|13/19|c.1022C>T|p.Ala341Val|1235/4484|1022/1737|341/578||,T|missense_variant|MODERATE|GRAMD4|ENSG00000075240|transcript|ENST00000456069|protein_coding|8/9|c.488C>T|p.Ala163Val|489/669|488/668|163/221||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|GRAMD4|ENSG00000075240|transmembrane_region:Transmembrane_region|ENST00000361034|protein_coding|12/18|c.1022C>T|||||| 22 47064824 . G A . . ANN=A|sequence_feature|LOW|GRAMD4|ENSG00000075240|transmembrane_region:Transmembrane_region|ENST00000361034|protein_coding|12/18|c.1084+19G>A||||||,A|sequence_feature|LOW|GRAMD4|ENSG00000075240|transmembrane_region:Transmembrane_region|ENST00000361034|protein_coding|13/18|c.1084+19G>A||||||,A|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|12/17|c.1084+19G>A||||||,A|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|13/18|c.1084+19G>A||||||,A|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000456069|protein_coding|8/8|c.550+19G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 47064834 . T G . . ANN=G|sequence_feature|LOW|GRAMD4|ENSG00000075240|transmembrane_region:Transmembrane_region|ENST00000361034|protein_coding|12/18|c.1084+29T>G||||||,G|sequence_feature|LOW|GRAMD4|ENSG00000075240|transmembrane_region:Transmembrane_region|ENST00000361034|protein_coding|13/18|c.1084+29T>G||||||,G|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|12/17|c.1084+29T>G||||||,G|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|13/18|c.1084+29T>G||||||,G|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000456069|protein_coding|8/8|c.550+29T>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 47064837 . A C . . ANN=C|sequence_feature|LOW|GRAMD4|ENSG00000075240|transmembrane_region:Transmembrane_region|ENST00000361034|protein_coding|12/18|c.1084+32A>C||||||,C|sequence_feature|LOW|GRAMD4|ENSG00000075240|transmembrane_region:Transmembrane_region|ENST00000361034|protein_coding|13/18|c.1084+32A>C||||||,C|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|12/17|c.1084+32A>C||||||,C|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|13/18|c.1084+32A>C||||||,C|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000456069|protein_coding|8/8|c.550+32A>C||||||WARNING_TRANSCRIPT_INCOMPLETE 22 47064850 . C T . . ANN=T|sequence_feature|LOW|GRAMD4|ENSG00000075240|transmembrane_region:Transmembrane_region|ENST00000361034|protein_coding|12/18|c.1084+45C>T||||||,T|sequence_feature|LOW|GRAMD4|ENSG00000075240|transmembrane_region:Transmembrane_region|ENST00000361034|protein_coding|13/18|c.1084+45C>T||||||,T|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|12/17|c.1084+45C>T||||||,T|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|13/18|c.1084+45C>T||||||,T|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000456069|protein_coding|8/8|c.550+45C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 47068804 . C T . . ANN=T|synonymous_variant|LOW|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|13/18|c.1149C>T|p.Arg383Arg|1188/4316|1149/1737|383/578||,T|synonymous_variant|LOW|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|14/19|c.1149C>T|p.Arg383Arg|1362/4484|1149/1737|383/578||,T|upstream_gene_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000408031|protein_coding||c.-97C>T|||||1701|,T|downstream_gene_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000456069|protein_coding||c.*669C>T|||||1740|WARNING_TRANSCRIPT_INCOMPLETE 22 47068822 . C G . . ANN=G|synonymous_variant|LOW|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|13/18|c.1167C>G|p.Pro389Pro|1206/4316|1167/1737|389/578||,G|synonymous_variant|LOW|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|14/19|c.1167C>G|p.Pro389Pro|1380/4484|1167/1737|389/578||,G|upstream_gene_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000408031|protein_coding||c.-97C>G|||||1683|,G|downstream_gene_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000456069|protein_coding||c.*669C>G|||||1758|WARNING_TRANSCRIPT_INCOMPLETE 22 47068880 . G A . . ANN=A|missense_variant|MODERATE|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|13/18|c.1225G>A|p.Ala409Thr|1264/4316|1225/1737|409/578||,A|missense_variant|MODERATE|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|14/19|c.1225G>A|p.Ala409Thr|1438/4484|1225/1737|409/578||,A|upstream_gene_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000408031|protein_coding||c.-97G>A|||||1625|,A|downstream_gene_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000456069|protein_coding||c.*669G>A|||||1816|WARNING_TRANSCRIPT_INCOMPLETE 22 47068882 . A G . . ANN=G|synonymous_variant|LOW|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|13/18|c.1227A>G|p.Ala409Ala|1266/4316|1227/1737|409/578||,G|synonymous_variant|LOW|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|14/19|c.1227A>G|p.Ala409Ala|1440/4484|1227/1737|409/578||,G|upstream_gene_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000408031|protein_coding||c.-97A>G|||||1623|,G|downstream_gene_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000456069|protein_coding||c.*669A>G|||||1818|WARNING_TRANSCRIPT_INCOMPLETE 22 47068929 . TG T . . ANN=|upstream_gene_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000408031|protein_coding||c.-97delG|||||1575|,|downstream_gene_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000456069|protein_coding||c.*669delG|||||1866|WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|13/17|c.1239+41delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|14/18|c.1239+41delG||||||INFO_REALIGN_3_PRIME 22 47068935 . G T . . ANN=T|upstream_gene_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000408031|protein_coding||c.-97G>T|||||1570|,T|downstream_gene_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000456069|protein_coding||c.*669G>T|||||1871|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|13/17|c.1239+41G>T||||||,T|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|14/18|c.1239+41G>T|||||| 22 47069525 . G A . . ANN=A|upstream_gene_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000408031|protein_coding||c.-97G>A|||||980|,A|downstream_gene_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000456069|protein_coding||c.*669G>A|||||2461|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|13/17|c.1240-42G>A||||||,A|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|14/18|c.1240-42G>A|||||| 22 47069563 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|13/17|c.1240-4G>A||||||,A|splice_region_variant&intron_variant|LOW|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|14/18|c.1240-4G>A||||||,A|upstream_gene_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000408031|protein_coding||c.-97G>A|||||942|,A|downstream_gene_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000456069|protein_coding||c.*669G>A|||||2499|WARNING_TRANSCRIPT_INCOMPLETE 22 47069581 . G A . . ANN=A|synonymous_variant|LOW|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|14/18|c.1254G>A|p.Ser418Ser|1293/4316|1254/1737|418/578||,A|synonymous_variant|LOW|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|15/19|c.1254G>A|p.Ser418Ser|1467/4484|1254/1737|418/578||,A|upstream_gene_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000408031|protein_coding||c.-97G>A|||||924|,A|downstream_gene_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000456069|protein_coding||c.*669G>A|||||2517|WARNING_TRANSCRIPT_INCOMPLETE 22 47069671 . C T . . ANN=T|synonymous_variant|LOW|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|14/18|c.1344C>T|p.His448His|1383/4316|1344/1737|448/578||,T|synonymous_variant|LOW|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|15/19|c.1344C>T|p.His448His|1557/4484|1344/1737|448/578||,T|sequence_feature|LOW|GRAMD4|ENSG00000075240|domain:GRAM|ENST00000361034|protein_coding|16/18|c.1344C>T||||||,T|sequence_feature|LOW|GRAMD4|ENSG00000075240|domain:GRAM|ENST00000361034|protein_coding|17/18|c.1344C>T||||||,T|sequence_feature|LOW|GRAMD4|ENSG00000075240|domain:GRAM|ENST00000361034|protein_coding|14/18|c.1344C>T||||||,T|sequence_feature|LOW|GRAMD4|ENSG00000075240|domain:GRAM|ENST00000361034|protein_coding|15/18|c.1344C>T||||||,T|upstream_gene_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000408031|protein_coding||c.-97C>T|||||834|,T|downstream_gene_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000456069|protein_coding||c.*669C>T|||||2607|WARNING_TRANSCRIPT_INCOMPLETE 22 47069700 . G A . . ANN=A|missense_variant|MODERATE|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|14/18|c.1373G>A|p.Arg458His|1412/4316|1373/1737|458/578||,A|missense_variant|MODERATE|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|15/19|c.1373G>A|p.Arg458His|1586/4484|1373/1737|458/578||,A|sequence_feature|LOW|GRAMD4|ENSG00000075240|domain:GRAM|ENST00000361034|protein_coding|16/18|c.1373G>A||||||,A|sequence_feature|LOW|GRAMD4|ENSG00000075240|domain:GRAM|ENST00000361034|protein_coding|17/18|c.1373G>A||||||,A|sequence_feature|LOW|GRAMD4|ENSG00000075240|domain:GRAM|ENST00000361034|protein_coding|14/18|c.1373G>A||||||,A|sequence_feature|LOW|GRAMD4|ENSG00000075240|domain:GRAM|ENST00000361034|protein_coding|15/18|c.1373G>A||||||,A|upstream_gene_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000408031|protein_coding||c.-97G>A|||||805|,A|downstream_gene_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000456069|protein_coding||c.*669G>A|||||2636|WARNING_TRANSCRIPT_INCOMPLETE 22 47070550 . T A . . ANN=A|splice_region_variant&intron_variant|LOW|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|14/17|c.1385-4T>A||||||,A|splice_region_variant&intron_variant|LOW|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|15/18|c.1385-4T>A||||||,A|sequence_feature|LOW|GRAMD4|ENSG00000075240|domain:GRAM|ENST00000361034|protein_coding|16/18|c.1385-4T>A||||||,A|sequence_feature|LOW|GRAMD4|ENSG00000075240|domain:GRAM|ENST00000361034|protein_coding|17/18|c.1385-4T>A||||||,A|sequence_feature|LOW|GRAMD4|ENSG00000075240|domain:GRAM|ENST00000361034|protein_coding|14/18|c.1385-4T>A||||||,A|sequence_feature|LOW|GRAMD4|ENSG00000075240|domain:GRAM|ENST00000361034|protein_coding|15/18|c.1385-4T>A||||||,A|5_prime_UTR_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000408031|protein_coding|1/4|c.-51T>A|||||51|,A|downstream_gene_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000456069|protein_coding||c.*669T>A|||||3486|WARNING_TRANSCRIPT_INCOMPLETE 22 47070558 . C T . . ANN=T|synonymous_variant|LOW|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|15/18|c.1389C>T|p.Cys463Cys|1428/4316|1389/1737|463/578||,T|synonymous_variant|LOW|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|16/19|c.1389C>T|p.Cys463Cys|1602/4484|1389/1737|463/578||,T|sequence_feature|LOW|GRAMD4|ENSG00000075240|domain:GRAM|ENST00000361034|protein_coding|16/18|c.1389C>T||||||,T|sequence_feature|LOW|GRAMD4|ENSG00000075240|domain:GRAM|ENST00000361034|protein_coding|17/18|c.1389C>T||||||,T|sequence_feature|LOW|GRAMD4|ENSG00000075240|domain:GRAM|ENST00000361034|protein_coding|14/18|c.1389C>T||||||,T|sequence_feature|LOW|GRAMD4|ENSG00000075240|domain:GRAM|ENST00000361034|protein_coding|15/18|c.1389C>T||||||,T|5_prime_UTR_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000408031|protein_coding|1/4|c.-43C>T|||||43|,T|downstream_gene_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000456069|protein_coding||c.*669C>T|||||3494|WARNING_TRANSCRIPT_INCOMPLETE 22 47070642 . G A . . ANN=A|synonymous_variant|LOW|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|15/18|c.1473G>A|p.Thr491Thr|1512/4316|1473/1737|491/578||,A|synonymous_variant|LOW|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|16/19|c.1473G>A|p.Thr491Thr|1686/4484|1473/1737|491/578||,A|synonymous_variant|LOW|GRAMD4|ENSG00000075240|transcript|ENST00000408031|protein_coding|1/4|c.42G>A|p.Thr14Thr|138/2834|42/306|14/101||,A|sequence_feature|LOW|GRAMD4|ENSG00000075240|domain:GRAM|ENST00000361034|protein_coding|16/18|c.1473G>A||||||,A|sequence_feature|LOW|GRAMD4|ENSG00000075240|domain:GRAM|ENST00000361034|protein_coding|17/18|c.1473G>A||||||,A|sequence_feature|LOW|GRAMD4|ENSG00000075240|domain:GRAM|ENST00000361034|protein_coding|14/18|c.1473G>A||||||,A|sequence_feature|LOW|GRAMD4|ENSG00000075240|domain:GRAM|ENST00000361034|protein_coding|15/18|c.1473G>A||||||,A|downstream_gene_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000456069|protein_coding||c.*669G>A|||||3578|WARNING_TRANSCRIPT_INCOMPLETE 22 47070683 . G A . . ANN=A|sequence_feature|LOW|GRAMD4|ENSG00000075240|domain:GRAM|ENST00000361034|protein_coding|16/18|c.1478+36G>A||||||,A|sequence_feature|LOW|GRAMD4|ENSG00000075240|domain:GRAM|ENST00000361034|protein_coding|17/18|c.1478+36G>A||||||,A|sequence_feature|LOW|GRAMD4|ENSG00000075240|domain:GRAM|ENST00000361034|protein_coding|14/18|c.1478+36G>A||||||,A|sequence_feature|LOW|GRAMD4|ENSG00000075240|domain:GRAM|ENST00000361034|protein_coding|15/18|c.1478+36G>A||||||,A|downstream_gene_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000456069|protein_coding||c.*669G>A|||||3619|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|15/17|c.1478+36G>A||||||,A|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|16/18|c.1478+36G>A||||||,A|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000408031|protein_coding|1/3|c.47+36G>A|||||| 22 47071341 . C T . . ANN=T|sequence_feature|LOW|GRAMD4|ENSG00000075240|domain:GRAM|ENST00000361034|protein_coding|16/18|c.1479-24C>T||||||,T|sequence_feature|LOW|GRAMD4|ENSG00000075240|domain:GRAM|ENST00000361034|protein_coding|17/18|c.1479-24C>T||||||,T|sequence_feature|LOW|GRAMD4|ENSG00000075240|domain:GRAM|ENST00000361034|protein_coding|14/18|c.1479-24C>T||||||,T|sequence_feature|LOW|GRAMD4|ENSG00000075240|domain:GRAM|ENST00000361034|protein_coding|15/18|c.1479-24C>T||||||,T|downstream_gene_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000456069|protein_coding||c.*669C>T|||||4277|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|15/17|c.1479-24C>T||||||,T|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|16/18|c.1479-24C>T||||||,T|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000408031|protein_coding|1/3|c.48-24C>T|||||| 22 47071467 . C T . . ANN=T|sequence_feature|LOW|GRAMD4|ENSG00000075240|domain:GRAM|ENST00000361034|protein_coding|16/18|c.1563+18C>T||||||,T|sequence_feature|LOW|GRAMD4|ENSG00000075240|domain:GRAM|ENST00000361034|protein_coding|17/18|c.1563+18C>T||||||,T|sequence_feature|LOW|GRAMD4|ENSG00000075240|domain:GRAM|ENST00000361034|protein_coding|14/18|c.1563+18C>T||||||,T|sequence_feature|LOW|GRAMD4|ENSG00000075240|domain:GRAM|ENST00000361034|protein_coding|15/18|c.1563+18C>T||||||,T|downstream_gene_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000456069|protein_coding||c.*669C>T|||||4403|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|16/17|c.1563+18C>T||||||,T|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|17/18|c.1563+18C>T||||||,T|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000408031|protein_coding|2/3|c.132+18C>T|||||| 22 47071470 . C T . . ANN=T|sequence_feature|LOW|GRAMD4|ENSG00000075240|domain:GRAM|ENST00000361034|protein_coding|16/18|c.1563+21C>T||||||,T|sequence_feature|LOW|GRAMD4|ENSG00000075240|domain:GRAM|ENST00000361034|protein_coding|17/18|c.1563+21C>T||||||,T|sequence_feature|LOW|GRAMD4|ENSG00000075240|domain:GRAM|ENST00000361034|protein_coding|14/18|c.1563+21C>T||||||,T|sequence_feature|LOW|GRAMD4|ENSG00000075240|domain:GRAM|ENST00000361034|protein_coding|15/18|c.1563+21C>T||||||,T|downstream_gene_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000456069|protein_coding||c.*669C>T|||||4406|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|16/17|c.1563+21C>T||||||,T|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|17/18|c.1563+21C>T||||||,T|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000408031|protein_coding|2/3|c.132+21C>T|||||| 22 47072477 . G A . . ANN=A|sequence_feature|LOW|GRAMD4|ENSG00000075240|domain:GRAM|ENST00000361034|protein_coding|16/18|c.1564-20G>A||||||,A|sequence_feature|LOW|GRAMD4|ENSG00000075240|domain:GRAM|ENST00000361034|protein_coding|17/18|c.1564-20G>A||||||,A|sequence_feature|LOW|GRAMD4|ENSG00000075240|domain:GRAM|ENST00000361034|protein_coding|14/18|c.1564-20G>A||||||,A|sequence_feature|LOW|GRAMD4|ENSG00000075240|domain:GRAM|ENST00000361034|protein_coding|15/18|c.1564-20G>A||||||,A|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|16/17|c.1564-20G>A||||||,A|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|17/18|c.1564-20G>A||||||,A|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000408031|protein_coding|2/3|c.133-20G>A|||||| 22 47072996 . G A . . ANN=A|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|17/17|c.1633-48G>A||||||,A|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|18/18|c.1633-48G>A||||||,A|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000408031|protein_coding|3/3|c.202-48G>A|||||| 22 47073022 . G A . . ANN=A|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|17/17|c.1633-22G>A||||||,A|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|18/18|c.1633-22G>A||||||,A|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000408031|protein_coding|3/3|c.202-22G>A|||||| 22 47073142 . C T . . ANN=T|synonymous_variant|LOW|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|18/18|c.1731C>T|p.Asp577Asp|1770/4316|1731/1737|577/578||,T|synonymous_variant|LOW|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|19/19|c.1731C>T|p.Asp577Asp|1944/4484|1731/1737|577/578||,T|synonymous_variant|LOW|GRAMD4|ENSG00000075240|transcript|ENST00000408031|protein_coding|4/4|c.300C>T|p.Asp100Asp|396/2834|300/306|100/101|| 22 47073176 . A ATTTTCT . . ANN=CTTTTT|3_prime_UTR_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|18/18|c.*51_*56dupCTTTTT|||||57|INFO_REALIGN_3_PRIME,CTTTTT|3_prime_UTR_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|19/19|c.*51_*56dupCTTTTT|||||57|INFO_REALIGN_3_PRIME,CTTTTT|3_prime_UTR_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000408031|protein_coding|4/4|c.*51_*56dupCTTTTT|||||57|INFO_REALIGN_3_PRIME 22 47073183 . T TTTTCTA . . ANN=ATTTCT|3_prime_UTR_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|18/18|c.*40_*41insATTTCT|||||41|INFO_REALIGN_3_PRIME,ATTTCT|3_prime_UTR_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|19/19|c.*40_*41insATTTCT|||||41|INFO_REALIGN_3_PRIME,ATTTCT|3_prime_UTR_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000408031|protein_coding|4/4|c.*40_*41insATTTCT|||||41|INFO_REALIGN_3_PRIME 22 47073198 . TC T . . ANN=|3_prime_UTR_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|18/18|c.*51delC|||||51|,|3_prime_UTR_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|19/19|c.*51delC|||||51|,|3_prime_UTR_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000408031|protein_coding|4/4|c.*51delC|||||51| 22 47083010 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|13/13|c.*21A>G|||||21|,C|3_prime_UTR_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|12/12|n.*1013A>G|||||20823|,C|3_prime_UTR_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|12/12|c.*21A>G|||||21|,C|downstream_gene_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000471929|processed_transcript||n.*567A>G|||||2942|,C|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|12/12|n.*1013A>G|||||| 22 47083012 . T A . . ANN=A|3_prime_UTR_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|13/13|c.*19A>T|||||19|,A|3_prime_UTR_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|12/12|n.*1011A>T|||||20821|,A|3_prime_UTR_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|12/12|c.*19A>T|||||19|,A|downstream_gene_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000471929|processed_transcript||n.*567A>T|||||2940|,A|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|12/12|n.*1011A>T|||||| 22 47083016 . C A . . ANN=A|3_prime_UTR_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|13/13|c.*15G>T|||||15|,A|3_prime_UTR_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|12/12|n.*1007G>T|||||20817|,A|3_prime_UTR_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|12/12|c.*15G>T|||||15|,A|downstream_gene_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000471929|processed_transcript||n.*567G>T|||||2936|,A|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|12/12|n.*1007G>T|||||| 22 47083052 . C T . . ANN=T|synonymous_variant|LOW|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|13/13|c.1593G>A|p.Pro531Pro|1706/4450|1593/1614|531/537||,T|synonymous_variant|LOW|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|12/12|c.999G>A|p.Pro333Pro|1588/1755|999/1020|333/339||,T|3_prime_UTR_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|12/12|n.*971G>A|||||20781|,T|downstream_gene_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000471929|processed_transcript||n.*567G>A|||||2900|,T|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|12/12|n.*971G>A|||||| 22 47083136 . C T . . ANN=T|downstream_gene_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000471929|processed_transcript||n.*567G>A|||||2816|,T|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|12/12|c.1542-33G>A||||||,T|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|11/11|n.*920-33G>A||||||,T|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|11/11|c.948-33G>A|||||| 22 47083137 . G A . . ANN=A|downstream_gene_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000471929|processed_transcript||n.*567C>T|||||2815|,A|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|12/12|c.1542-34C>T||||||,A|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|11/11|n.*920-34C>T||||||,A|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|11/11|c.948-34C>T|||||| 22 47085859 . C G . . ANN=G|downstream_gene_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000471929|processed_transcript||n.*567G>C|||||93|,G|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|12/12|c.1541+30G>C||||||,G|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|11/11|n.*919+30G>C||||||,G|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|11/11|c.947+30G>C|||||| 22 47085860 . G A . . ANN=A|downstream_gene_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000471929|processed_transcript||n.*567C>T|||||92|,A|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|12/12|c.1541+29C>T||||||,A|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|11/11|n.*919+29C>T||||||,A|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|11/11|c.947+29C>T|||||| 22 47085903 . A T . . ANN=T|synonymous_variant|LOW|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|12/13|c.1527T>A|p.Pro509Pro|1640/4450|1527/1614|509/537||,T|synonymous_variant|LOW|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|11/12|c.933T>A|p.Pro311Pro|1522/1755|933/1020|311/339||,T|3_prime_UTR_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|11/12|n.*905T>A|||||17930|,T|downstream_gene_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000471929|processed_transcript||n.*567T>A|||||49|,T|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|11/12|n.*905T>A|||||| 22 47085924 . G A . . ANN=A|synonymous_variant|LOW|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|12/13|c.1506C>T|p.Asp502Asp|1619/4450|1506/1614|502/537||,A|synonymous_variant|LOW|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|11/12|c.912C>T|p.Asp304Asp|1501/1755|912/1020|304/339||,A|sequence_feature|LOW|CERK|ENSG00000100422|nucleotide_phosphate-binding_region:ATP|ENST00000216264|protein_coding|12/13|c.1506C>T||||||,A|3_prime_UTR_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|11/12|n.*884C>T|||||17909|,A|downstream_gene_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000471929|processed_transcript||n.*567C>T|||||28|,A|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|11/12|n.*884C>T|||||| 22 47085983 . T C . . ANN=C|missense_variant|MODERATE|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|12/13|c.1447A>G|p.Ile483Val|1560/4450|1447/1614|483/537||,C|missense_variant|MODERATE|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|11/12|c.853A>G|p.Ile285Val|1442/1755|853/1020|285/339||,C|3_prime_UTR_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|11/12|n.*825A>G|||||17850|,C|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|11/12|n.*825A>G||||||,C|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000471929|processed_transcript|4/4|n.536A>G|||||| 22 47086007 . C A,G,T . . ANN=A|missense_variant|MODERATE|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|12/13|c.1423G>T|p.Gly475Trp|1536/4450|1423/1614|475/537||,G|missense_variant|MODERATE|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|12/13|c.1423G>C|p.Gly475Arg|1536/4450|1423/1614|475/537||,T|missense_variant|MODERATE|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|12/13|c.1423G>A|p.Gly475Arg|1536/4450|1423/1614|475/537||,A|missense_variant|MODERATE|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|11/12|c.829G>T|p.Gly277Trp|1418/1755|829/1020|277/339||,G|missense_variant|MODERATE|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|11/12|c.829G>C|p.Gly277Arg|1418/1755|829/1020|277/339||,T|missense_variant|MODERATE|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|11/12|c.829G>A|p.Gly277Arg|1418/1755|829/1020|277/339||,A|3_prime_UTR_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|11/12|n.*801G>T|||||17826|,G|3_prime_UTR_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|11/12|n.*801G>C|||||17826|,T|3_prime_UTR_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|11/12|n.*801G>A|||||17826|,A|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|11/12|n.*801G>T||||||,G|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|11/12|n.*801G>C||||||,T|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|11/12|n.*801G>A||||||,A|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000471929|processed_transcript|4/4|n.512G>T||||||,G|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000471929|processed_transcript|4/4|n.512G>C||||||,T|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000471929|processed_transcript|4/4|n.512G>A|||||| 22 47086016 . G A . . ANN=A|missense_variant|MODERATE|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|12/13|c.1414C>T|p.Leu472Phe|1527/4450|1414/1614|472/537||,A|missense_variant|MODERATE|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|11/12|c.820C>T|p.Leu274Phe|1409/1755|820/1020|274/339||,A|3_prime_UTR_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|11/12|n.*792C>T|||||17817|,A|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|11/12|n.*792C>T||||||,A|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000471929|processed_transcript|4/4|n.503C>T|||||| 22 47086048 . G A . . ANN=A|missense_variant|MODERATE|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|12/13|c.1382C>T|p.Thr461Met|1495/4450|1382/1614|461/537||,A|missense_variant|MODERATE|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|11/12|c.788C>T|p.Thr263Met|1377/1755|788/1020|263/339||,A|3_prime_UTR_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|11/12|n.*760C>T|||||17785|,A|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|11/12|n.*760C>T||||||,A|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000471929|processed_transcript|4/4|n.471C>T|||||| 22 47087432 . C T . . ANN=T|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|11/12|c.1332+37G>A||||||,T|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|10/11|n.*710+37G>A||||||,T|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|10/11|c.738+37G>A||||||,T|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000471929|processed_transcript|3/3|n.421+37G>A|||||| 22 47087460 . C T . . ANN=T|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|11/12|c.1332+9G>A||||||,T|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|10/11|n.*710+9G>A||||||,T|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|10/11|c.738+9G>A||||||,T|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000471929|processed_transcript|3/3|n.421+9G>A|||||| 22 47087541 . G T . . ANN=T|synonymous_variant|LOW|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|11/13|c.1260C>A|p.Leu420Leu|1373/4450|1260/1614|420/537||,T|synonymous_variant|LOW|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|10/12|c.666C>A|p.Leu222Leu|1255/1755|666/1020|222/339||,T|3_prime_UTR_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|10/12|n.*638C>A|||||16292|,T|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|10/12|n.*638C>A||||||,T|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000471929|processed_transcript|3/4|n.349C>A|||||| 22 47087670 . G A . . ANN=A|synonymous_variant|LOW|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|11/13|c.1131C>T|p.Asp377Asp|1244/4450|1131/1614|377/537||,A|synonymous_variant|LOW|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|10/12|c.537C>T|p.Asp179Asp|1126/1755|537/1020|179/339||,A|3_prime_UTR_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|10/12|n.*509C>T|||||16163|,A|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|10/12|n.*509C>T||||||,A|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000471929|processed_transcript|3/4|n.220C>T|||||| 22 47089274 . G A . . ANN=A|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|10/12|c.1126+50C>T||||||,A|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|9/11|n.*504+50C>T||||||,A|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|9/11|c.532+50C>T||||||,A|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000471929|processed_transcript|2/3|n.215+50C>T|||||| 22 47089409 . C A . . ANN=A|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|9/12|c.1050-9G>T||||||,A|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|8/11|n.*428-9G>T||||||,A|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|8/11|c.456-9G>T||||||,A|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000471929|processed_transcript|1/3|n.139-9G>T|||||| 22 47089439 . C T . . ANN=T|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|9/12|c.1050-39G>A||||||,T|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|8/11|n.*428-39G>A||||||,T|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|8/11|c.456-39G>A||||||,T|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000471929|processed_transcript|1/3|n.139-39G>A|||||| 22 47089445 . G A . . ANN=A|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|9/12|c.1050-45C>T||||||,A|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|8/11|n.*428-45C>T||||||,A|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|8/11|c.456-45C>T||||||,A|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000471929|processed_transcript|1/3|n.139-45C>T|||||| 22 47091092 . A G . . ANN=G|upstream_gene_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000471929|processed_transcript||n.-1T>C|||||1383|,G|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|9/12|c.1049+15T>C||||||,G|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|8/11|n.*427+15T>C||||||,G|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|8/11|c.455+15T>C|||||| 22 47091113 . C T . . ANN=T|missense_variant|MODERATE|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|9/13|c.1043G>A|p.Arg348Gln|1156/4450|1043/1614|348/537||,T|missense_variant|MODERATE|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|8/12|c.449G>A|p.Arg150Gln|1038/1755|449/1020|150/339||,T|3_prime_UTR_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|8/12|n.*421G>A|||||12720|,T|upstream_gene_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000471929|processed_transcript||n.-1G>A|||||1404|,T|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|8/12|n.*421G>A|||||| 22 47091231 . G A . . ANN=A|upstream_gene_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000471929|processed_transcript||n.-1C>T|||||1522|,A|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|8/12|c.944-19C>T||||||,A|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|7/11|n.*322-19C>T||||||,A|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|7/11|c.350-19C>T|||||| 22 47091258 . G T . . ANN=T|upstream_gene_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000471929|processed_transcript||n.-1C>A|||||1549|,T|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|8/12|c.944-46C>A||||||,T|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|7/11|n.*322-46C>A||||||,T|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|7/11|c.350-46C>A|||||| 22 47095172 . C G . . ANN=G|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|8/12|c.943+38G>C||||||,G|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|7/11|n.*321+38G>C||||||,G|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|7/11|c.349+38G>C|||||| 22 47095186 . C T . . ANN=T|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|8/12|c.943+24G>A||||||,T|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|7/11|n.*321+24G>A||||||,T|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|7/11|c.349+24G>A|||||| 22 47095214 . A G . . ANN=G|synonymous_variant|LOW|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|8/13|c.939T>C|p.Phe313Phe|1052/4450|939/1614|313/537||,G|synonymous_variant|LOW|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|7/12|c.345T>C|p.Phe115Phe|934/1755|345/1020|115/339||,G|3_prime_UTR_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|7/12|n.*317T>C|||||8619|,G|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|7/12|n.*317T>C|||||| 22 47095235 . C A . . ANN=A|missense_variant|MODERATE|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|8/13|c.918G>T|p.Leu306Phe|1031/4450|918/1614|306/537||,A|missense_variant|MODERATE|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|7/12|c.324G>T|p.Leu108Phe|913/1755|324/1020|108/339||,A|3_prime_UTR_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|7/12|n.*296G>T|||||8598|,A|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|7/12|n.*296G>T|||||| 22 47095300 . C T . . ANN=T|missense_variant|MODERATE|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|8/13|c.853G>A|p.Val285Met|966/4450|853/1614|285/537||,T|missense_variant|MODERATE|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|7/12|c.259G>A|p.Val87Met|848/1755|259/1020|87/339||,T|3_prime_UTR_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|7/12|n.*231G>A|||||8533|,T|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|7/12|n.*231G>A|||||| 22 47095373 . G C . . ANN=C|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|6/13|c.791-11C>G||||||,C|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|8/13|c.791-11C>G||||||,C|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|5/13|c.791-11C>G||||||,C|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|4/13|c.791-11C>G||||||,C|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|7/13|c.791-11C>G||||||,C|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|7/12|c.791-11C>G||||||,C|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|6/11|n.*169-11C>G||||||,C|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|6/11|c.197-11C>G|||||| 22 47095376 . C T . . ANN=T|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|6/13|c.791-14G>A||||||,T|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|8/13|c.791-14G>A||||||,T|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|5/13|c.791-14G>A||||||,T|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|4/13|c.791-14G>A||||||,T|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|7/13|c.791-14G>A||||||,T|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|7/12|c.791-14G>A||||||,T|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|6/11|n.*169-14G>A||||||,T|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|6/11|c.197-14G>A|||||| 22 47095381 . G A . . ANN=A|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|6/13|c.791-19C>T||||||,A|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|8/13|c.791-19C>T||||||,A|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|5/13|c.791-19C>T||||||,A|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|4/13|c.791-19C>T||||||,A|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|7/13|c.791-19C>T||||||,A|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|7/12|c.791-19C>T||||||,A|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|6/11|n.*169-19C>T||||||,A|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|6/11|c.197-19C>T|||||| 22 47095409 . C G . . ANN=G|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|6/13|c.791-47G>C||||||,G|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|8/13|c.791-47G>C||||||,G|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|5/13|c.791-47G>C||||||,G|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|4/13|c.791-47G>C||||||,G|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|7/13|c.791-47G>C||||||,G|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|7/12|c.791-47G>C||||||,G|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|6/11|n.*169-47G>C||||||,G|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|6/11|c.197-47G>C|||||| 22 47097496 . G A . . ANN=A|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|6/13|c.790+37C>T||||||,A|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|8/13|c.790+37C>T||||||,A|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|5/13|c.790+37C>T||||||,A|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|4/13|c.790+37C>T||||||,A|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|7/13|c.790+37C>T||||||,A|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|7/12|c.790+37C>T||||||,A|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|6/11|n.*168+37C>T||||||,A|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|6/11|c.196+37C>T|||||| 22 47097505 . C T . . ANN=T|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|6/13|c.790+28G>A||||||,T|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|8/13|c.790+28G>A||||||,T|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|5/13|c.790+28G>A||||||,T|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|4/13|c.790+28G>A||||||,T|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|7/13|c.790+28G>A||||||,T|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|7/12|c.790+28G>A||||||,T|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|6/11|n.*168+28G>A||||||,T|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|6/11|c.196+28G>A|||||| 22 47097650 . A T . . ANN=T|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|6/13|c.716-43T>A||||||,T|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|8/13|c.716-43T>A||||||,T|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|5/13|c.716-43T>A||||||,T|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|4/13|c.716-43T>A||||||,T|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|7/13|c.716-43T>A||||||,T|sequence_feature|LOW|CERK|ENSG00000100422|nucleotide_phosphate-binding_region:ATP|ENST00000216264|protein_coding|6/13|c.716-43T>A||||||,T|sequence_feature|LOW|CERK|ENSG00000100422|nucleotide_phosphate-binding_region:ATP|ENST00000216264|protein_coding|7/13|c.716-43T>A||||||,T|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|6/12|c.716-43T>A||||||,T|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|5/11|n.*94-43T>A||||||,T|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|5/11|c.122-43T>A|||||| 22 47103729 . C T . . ANN=T|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|6/13|c.715+11G>A||||||,T|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|8/13|c.715+11G>A||||||,T|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|5/13|c.715+11G>A||||||,T|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|4/13|c.715+11G>A||||||,T|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|7/13|c.715+11G>A||||||,T|sequence_feature|LOW|CERK|ENSG00000100422|nucleotide_phosphate-binding_region:ATP|ENST00000216264|protein_coding|6/13|c.715+11G>A||||||,T|sequence_feature|LOW|CERK|ENSG00000100422|nucleotide_phosphate-binding_region:ATP|ENST00000216264|protein_coding|7/13|c.715+11G>A||||||,T|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|6/12|c.715+11G>A||||||,T|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|5/11|n.*93+11G>A||||||,T|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|5/11|c.121+11G>A|||||| 22 47103743 . C A . . ANN=A|missense_variant|MODERATE|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|6/13|c.712G>T|p.Ala238Ser|825/4450|712/1614|238/537||,A|missense_variant|MODERATE|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|5/12|c.118G>T|p.Ala40Ser|707/1755|118/1020|40/339||,A|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|6/13|c.712G>T||||||,A|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|8/13|c.712G>T||||||,A|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|5/13|c.712G>T||||||,A|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|4/13|c.712G>T||||||,A|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|7/13|c.712G>T||||||,A|3_prime_UTR_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|5/12|n.*90G>T|||||90|,A|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|5/12|n.*90G>T|||||| 22 47103744 . G A . . ANN=A|synonymous_variant|LOW|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|6/13|c.711C>T|p.Pro237Pro|824/4450|711/1614|237/537||,A|synonymous_variant|LOW|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|5/12|c.117C>T|p.Pro39Pro|706/1755|117/1020|39/339||,A|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|6/13|c.711C>T||||||,A|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|8/13|c.711C>T||||||,A|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|5/13|c.711C>T||||||,A|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|4/13|c.711C>T||||||,A|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|7/13|c.711C>T||||||,A|3_prime_UTR_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|5/12|n.*89C>T|||||89|,A|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|5/12|n.*89C>T|||||| 22 47103810 . G A . . ANN=A|synonymous_variant|LOW|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|6/13|c.645C>T|p.Ala215Ala|758/4450|645/1614|215/537||,A|synonymous_variant|LOW|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|5/12|c.51C>T|p.Ala17Ala|640/1755|51/1020|17/339||,A|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|6/13|c.645C>T||||||,A|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|8/13|c.645C>T||||||,A|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|5/13|c.645C>T||||||,A|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|4/13|c.645C>T||||||,A|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|7/13|c.645C>T||||||,A|3_prime_UTR_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|5/12|n.*23C>T|||||23|,A|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|5/12|n.*23C>T|||||| 22 47103823 . G A . . ANN=A|missense_variant|MODERATE|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|6/13|c.632C>T|p.Thr211Met|745/4450|632/1614|211/537||,A|missense_variant|MODERATE|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|5/12|c.38C>T|p.Thr13Met|627/1755|38/1020|13/339||,A|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|6/13|c.632C>T||||||,A|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|8/13|c.632C>T||||||,A|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|5/13|c.632C>T||||||,A|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|4/13|c.632C>T||||||,A|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|7/13|c.632C>T||||||,A|3_prime_UTR_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|5/12|n.*10C>T|||||10|,A|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|5/12|n.*10C>T|||||| 22 47103840 . G A . . ANN=A|synonymous_variant|LOW|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|6/13|c.615C>T|p.His205His|728/4450|615/1614|205/537||,A|synonymous_variant|LOW|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|5/12|c.21C>T|p.His7His|610/1755|21/1020|7/339||,A|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|6/13|c.615C>T||||||,A|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|8/13|c.615C>T||||||,A|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|5/13|c.615C>T||||||,A|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|4/13|c.615C>T||||||,A|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|7/13|c.615C>T||||||,A|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|5/12|n.551C>T|||||| 22 47103884 . T C . . ANN=C|missense_variant&splice_region_variant|MODERATE|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|6/13|c.571A>G|p.Ile191Val|684/4450|571/1614|191/537||,C|splice_region_variant&non_coding_exon_variant|LOW|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|5/12|n.507A>G||||||,C|splice_region_variant|LOW|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|5/12|c.-24A>G||||||,C|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|6/13|c.571A>G||||||,C|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|8/13|c.571A>G||||||,C|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|5/13|c.571A>G||||||,C|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|4/13|c.571A>G||||||,C|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|7/13|c.571A>G||||||,C|5_prime_UTR_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|5/12|c.-24A>G|||||24| 22 47103905 . G A . . ANN=A|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|6/13|c.570-20C>T||||||,A|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|8/13|c.570-20C>T||||||,A|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|5/13|c.570-20C>T||||||,A|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|4/13|c.570-20C>T||||||,A|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|7/13|c.570-20C>T||||||,A|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|5/12|c.570-20C>T||||||,A|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|4/11|n.506-20C>T||||||,A|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|4/11|c.-25-20C>T|||||| 22 47106968 . A G . . ANN=G|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|6/13|c.569+15T>C||||||,G|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|8/13|c.569+15T>C||||||,G|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|5/13|c.569+15T>C||||||,G|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|4/13|c.569+15T>C||||||,G|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|7/13|c.569+15T>C||||||,G|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|5/12|c.569+15T>C||||||,G|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|4/11|n.505+1097T>C||||||,G|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|4/11|c.-26+1097T>C|||||| 22 47106996 . C G . . ANN=G|missense_variant|MODERATE|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|5/13|c.556G>C|p.Asp186His|669/4450|556/1614|186/537||,G|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|6/13|c.556G>C||||||,G|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|8/13|c.556G>C||||||,G|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|5/13|c.556G>C||||||,G|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|4/13|c.556G>C||||||,G|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|7/13|c.556G>C||||||,G|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|4/11|n.505+1069G>C||||||,G|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|4/11|c.-26+1069G>C|||||| 22 47108031 . C G . . ANN=G|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|6/13|c.505+34G>C||||||,G|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|8/13|c.505+34G>C||||||,G|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|5/13|c.505+34G>C||||||,G|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|4/13|c.505+34G>C||||||,G|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|7/13|c.505+34G>C||||||,G|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|4/12|c.505+34G>C||||||,G|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|4/11|n.505+34G>C||||||,G|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|4/11|c.-26+34G>C|||||| 22 47108084 . G A . . ANN=A|synonymous_variant|LOW|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|4/13|c.486C>T|p.Ser162Ser|599/4450|486/1614|162/537||,A|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|6/13|c.486C>T||||||,A|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|8/13|c.486C>T||||||,A|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|5/13|c.486C>T||||||,A|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|4/13|c.486C>T||||||,A|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|7/13|c.486C>T||||||,A|5_prime_UTR_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|4/12|c.-45C>T|||||4224|,A|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|4/12|n.486C>T|||||| 22 47108189 . C T . . ANN=T|splice_region_variant&synonymous_variant|LOW|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|4/13|c.381G>A|p.Thr127Thr|494/4450|381/1614|127/537||,T|splice_region_variant&non_coding_exon_variant|LOW|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|4/12|n.381G>A||||||,T|splice_region_variant|LOW|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|4/12|c.-150G>A||||||,T|5_prime_UTR_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|4/12|c.-150G>A|||||4329| 22 47108199 . C A . . ANN=A|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|3/12|c.380-9G>T||||||,A|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|3/11|n.380-9G>T||||||,A|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|3/11|c.-151-9G>T|||||| 22 47108219 . C T . . ANN=T|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|3/12|c.380-29G>A||||||,T|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|3/11|n.380-29G>A||||||,T|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|3/11|c.-151-29G>A|||||| 22 47116023 . G A . . ANN=A|synonymous_variant|LOW|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|3/13|c.339C>T|p.His113His|452/4450|339/1614|113/537||,A|sequence_feature|LOW|CERK|ENSG00000100422|region_of_interest:Required_for_binding_to_sulfatide_and_phosphoinositides|ENST00000216264|protein_coding|1/13|c.339C>T||||||,A|sequence_feature|LOW|CERK|ENSG00000100422|region_of_interest:Required_for_binding_to_sulfatide_and_phosphoinositides|ENST00000216264|protein_coding|3/13|c.339C>T||||||,A|sequence_feature|LOW|CERK|ENSG00000100422|region_of_interest:Required_for_binding_to_sulfatide_and_phosphoinositides|ENST00000216264|protein_coding|2/13|c.339C>T||||||,A|5_prime_UTR_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|3/12|c.-192C>T|||||12163|,A|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|3/12|n.339C>T|||||| 22 47116041 . T C . . ANN=C|synonymous_variant|LOW|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|3/13|c.321A>G|p.Pro107Pro|434/4450|321/1614|107/537||,C|sequence_feature|LOW|CERK|ENSG00000100422|region_of_interest:Required_for_binding_to_sulfatide_and_phosphoinositides|ENST00000216264|protein_coding|1/13|c.321A>G||||||,C|sequence_feature|LOW|CERK|ENSG00000100422|region_of_interest:Required_for_binding_to_sulfatide_and_phosphoinositides|ENST00000216264|protein_coding|3/13|c.321A>G||||||,C|sequence_feature|LOW|CERK|ENSG00000100422|region_of_interest:Required_for_binding_to_sulfatide_and_phosphoinositides|ENST00000216264|protein_coding|2/13|c.321A>G||||||,C|5_prime_UTR_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|3/12|c.-210A>G|||||12181|,C|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|3/12|n.321A>G|||||| 22 47116075 . C T . . ANN=T|missense_variant|MODERATE|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|3/13|c.287G>A|p.Arg96His|400/4450|287/1614|96/537||,T|sequence_feature|LOW|CERK|ENSG00000100422|region_of_interest:Required_for_binding_to_sulfatide_and_phosphoinositides|ENST00000216264|protein_coding|1/13|c.287G>A||||||,T|sequence_feature|LOW|CERK|ENSG00000100422|region_of_interest:Required_for_binding_to_sulfatide_and_phosphoinositides|ENST00000216264|protein_coding|3/13|c.287G>A||||||,T|sequence_feature|LOW|CERK|ENSG00000100422|region_of_interest:Required_for_binding_to_sulfatide_and_phosphoinositides|ENST00000216264|protein_coding|2/13|c.287G>A||||||,T|5_prime_UTR_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|3/12|c.-244G>A|||||12215|,T|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|3/12|n.287G>A|||||| 22 47116076 . G A . . ANN=A|missense_variant|MODERATE|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|3/13|c.286C>T|p.Arg96Cys|399/4450|286/1614|96/537||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|3/12|c.-245C>T||||||,A|sequence_feature|LOW|CERK|ENSG00000100422|region_of_interest:Required_for_binding_to_sulfatide_and_phosphoinositides|ENST00000216264|protein_coding|1/13|c.286C>T||||||,A|sequence_feature|LOW|CERK|ENSG00000100422|region_of_interest:Required_for_binding_to_sulfatide_and_phosphoinositides|ENST00000216264|protein_coding|3/13|c.286C>T||||||,A|sequence_feature|LOW|CERK|ENSG00000100422|region_of_interest:Required_for_binding_to_sulfatide_and_phosphoinositides|ENST00000216264|protein_coding|2/13|c.286C>T||||||,A|5_prime_UTR_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|3/12|c.-245C>T|||||12216|,A|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|3/12|n.286C>T|||||| 22 47116108 . G T . . ANN=T|splice_region_variant&intron_variant|LOW|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|2/12|c.257-3C>A||||||,T|splice_region_variant&intron_variant|LOW|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|2/11|n.257-3C>A||||||,T|splice_region_variant&intron_variant|LOW|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|2/11|c.-274-3C>A||||||,T|sequence_feature|LOW|CERK|ENSG00000100422|region_of_interest:Required_for_binding_to_sulfatide_and_phosphoinositides|ENST00000216264|protein_coding|1/13|c.257-3C>A||||||,T|sequence_feature|LOW|CERK|ENSG00000100422|region_of_interest:Required_for_binding_to_sulfatide_and_phosphoinositides|ENST00000216264|protein_coding|3/13|c.257-3C>A||||||,T|sequence_feature|LOW|CERK|ENSG00000100422|region_of_interest:Required_for_binding_to_sulfatide_and_phosphoinositides|ENST00000216264|protein_coding|2/13|c.257-3C>A|||||| 22 47116793 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|2/12|c.256+6A>G||||||,C|splice_region_variant&intron_variant|LOW|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|2/11|n.256+6A>G||||||,C|splice_region_variant&intron_variant|LOW|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|2/11|c.-275+6A>G||||||,C|sequence_feature|LOW|CERK|ENSG00000100422|region_of_interest:Required_for_binding_to_sulfatide_and_phosphoinositides|ENST00000216264|protein_coding|1/13|c.256+6A>G||||||,C|sequence_feature|LOW|CERK|ENSG00000100422|region_of_interest:Required_for_binding_to_sulfatide_and_phosphoinositides|ENST00000216264|protein_coding|3/13|c.256+6A>G||||||,C|sequence_feature|LOW|CERK|ENSG00000100422|region_of_interest:Required_for_binding_to_sulfatide_and_phosphoinositides|ENST00000216264|protein_coding|2/13|c.256+6A>G|||||| 22 47116905 . G A . . ANN=A|synonymous_variant|LOW|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|2/13|c.150C>T|p.Cys50Cys|263/4450|150/1614|50/537||,A|sequence_feature|LOW|CERK|ENSG00000100422|region_of_interest:Required_for_binding_to_sulfatide_and_phosphoinositides|ENST00000216264|protein_coding|1/13|c.150C>T||||||,A|sequence_feature|LOW|CERK|ENSG00000100422|region_of_interest:Required_for_binding_to_sulfatide_and_phosphoinositides|ENST00000216264|protein_coding|3/13|c.150C>T||||||,A|sequence_feature|LOW|CERK|ENSG00000100422|region_of_interest:Required_for_binding_to_sulfatide_and_phosphoinositides|ENST00000216264|protein_coding|2/13|c.150C>T||||||,A|5_prime_UTR_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|2/12|c.-381C>T|||||13045|,A|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|2/12|n.150C>T|||||| 22 47116947 . C T . . ANN=T|sequence_feature|LOW|CERK|ENSG00000100422|region_of_interest:Required_for_binding_to_sulfatide_and_phosphoinositides|ENST00000216264|protein_coding|1/13|c.143-35G>A||||||,T|sequence_feature|LOW|CERK|ENSG00000100422|region_of_interest:Required_for_binding_to_sulfatide_and_phosphoinositides|ENST00000216264|protein_coding|3/13|c.143-35G>A||||||,T|sequence_feature|LOW|CERK|ENSG00000100422|region_of_interest:Required_for_binding_to_sulfatide_and_phosphoinositides|ENST00000216264|protein_coding|2/13|c.143-35G>A||||||,T|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|1/12|c.143-35G>A||||||,T|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|1/11|n.143-35G>A||||||,T|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|1/11|c.-388-35G>A|||||| 22 47133984 . C T . . ANN=T|missense_variant|MODERATE|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|1/13|c.62G>A|p.Cys21Tyr|175/4450|62/1614|21/537||,T|sequence_feature|LOW|CERK|ENSG00000100422|region_of_interest:Required_for_binding_to_sulfatide_and_phosphoinositides|ENST00000216264|protein_coding|1/13|c.62G>A||||||,T|sequence_feature|LOW|CERK|ENSG00000100422|region_of_interest:Required_for_binding_to_sulfatide_and_phosphoinositides|ENST00000216264|protein_coding|3/13|c.62G>A||||||,T|sequence_feature|LOW|CERK|ENSG00000100422|region_of_interest:Required_for_binding_to_sulfatide_and_phosphoinositides|ENST00000216264|protein_coding|2/13|c.62G>A||||||,T|5_prime_UTR_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|1/12|c.-469G>A|||||30124|,T|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|1/12|n.62G>A||||||,T|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000460254|processed_transcript|1/2|n.4G>A|||||| 22 47134013 . T C . . ANN=C|synonymous_variant|LOW|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|1/13|c.33A>G|p.Gln11Gln|146/4450|33/1614|11/537||,C|sequence_feature|LOW|CERK|ENSG00000100422|region_of_interest:Required_for_binding_to_sulfatide_and_phosphoinositides|ENST00000216264|protein_coding|1/13|c.33A>G||||||,C|sequence_feature|LOW|CERK|ENSG00000100422|region_of_interest:Required_for_binding_to_sulfatide_and_phosphoinositides|ENST00000216264|protein_coding|3/13|c.33A>G||||||,C|sequence_feature|LOW|CERK|ENSG00000100422|region_of_interest:Required_for_binding_to_sulfatide_and_phosphoinositides|ENST00000216264|protein_coding|2/13|c.33A>G||||||,C|5_prime_UTR_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|1/12|c.-498A>G|||||30153|,C|upstream_gene_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000460254|processed_transcript||n.-1A>G|||||26|,C|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|1/12|n.33A>G|||||| 22 47158793 . G A . . ANN=A|upstream_gene_variant|MODIFIER|CTA-29F11.1|ENSG00000260708|transcript|ENST00000564152|antisense||n.-1C>T|||||333|,A|upstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000472791|processed_transcript||n.-1G>A|||||370|,A|upstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay||n.-755G>A|||||846|,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|1/12|c.62+48G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000380995|protein_coding|1/8|c.-80+48G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441936|nonsense_mediated_decay|1/3|n.62+48G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000486163|processed_transcript|1/3|n.190+48G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|1/11|c.62+48G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|1/10|c.62+48G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|1/11|n.62+48G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000496139|processed_transcript|1/4|n.162+48G>A|||||| 22 47188369 . G A . . ANN=A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|1/12|c.63-48G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000380995|protein_coding|1/8|c.-79-48G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441936|nonsense_mediated_decay|2/3|n.*46-48G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000486163|processed_transcript|1/3|n.191-48G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|1/11|c.63-48G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|1/10|c.63-1029G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|1/11|n.63-48G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000496139|processed_transcript|2/4|n.221-48G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000472791|processed_transcript|2/3|n.227-48G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|2/13|n.-79-48G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|1/12|c.-79-48G>A|||||| 22 47188499 . G A . . ANN=A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|2/12|c.119+26G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000380995|protein_coding|2/8|c.-23+26G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441936|nonsense_mediated_decay|3/3|n.*102+26G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000486163|processed_transcript|2/3|n.247+26G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|2/11|c.119+26G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|1/10|c.63-899G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|2/11|n.119+26G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000496139|processed_transcript|3/4|n.277+26G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000472791|processed_transcript|3/3|n.283+26G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|3/13|n.-23+26G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|2/12|c.-23+26G>A|||||| 22 47189509 . C T . . ANN=T|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|3/13|c.231C>T|p.Asp77Asp|397/3787|231/1554|77/517||,T|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000380995|protein_coding|3/9|c.90C>T|p.Asp30Asp|386/1271|90/975|30/324||,T|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|3/12|c.231C>T|p.Asp77Asp|346/1949|231/1377|77/458||,T|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|2/11|c.174C>T|p.Asp58Asp|280/1886|174/1320|58/439||,T|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|3/13|c.90C>T|p.Asp30Asp|478/2267|90/1413|30/470||,T|3_prime_UTR_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441936|nonsense_mediated_decay|4/4|n.*214C>T|||||4186|,T|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441936|nonsense_mediated_decay|4/4|n.*214C>T||||||,T|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000486163|processed_transcript|4/4|n.454C>T||||||,T|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|3/12|n.231C>T||||||,T|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000496139|processed_transcript|5/5|n.526C>T||||||,T|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000472791|processed_transcript|4/4|n.395C>T||||||,T|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|4/14|n.90C>T|||||| 22 47189533 . G A . . ANN=A|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|3/13|c.255G>A|p.Ala85Ala|421/3787|255/1554|85/517||,A|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000380995|protein_coding|3/9|c.114G>A|p.Ala38Ala|410/1271|114/975|38/324||,A|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|3/12|c.255G>A|p.Ala85Ala|370/1949|255/1377|85/458||,A|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|2/11|c.198G>A|p.Ala66Ala|304/1886|198/1320|66/439||,A|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|3/13|c.114G>A|p.Ala38Ala|502/2267|114/1413|38/470||,A|3_prime_UTR_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441936|nonsense_mediated_decay|4/4|n.*238G>A|||||4210|,A|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000496139|processed_transcript||n.*530G>A|||||20|,A|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441936|nonsense_mediated_decay|4/4|n.*238G>A||||||,A|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000486163|processed_transcript|4/4|n.478G>A||||||,A|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|3/12|n.255G>A||||||,A|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000472791|processed_transcript|4/4|n.419G>A||||||,A|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|4/14|n.114G>A|||||| 22 47189536 . G A . . ANN=A|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|3/13|c.258G>A|p.Ala86Ala|424/3787|258/1554|86/517||,A|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000380995|protein_coding|3/9|c.117G>A|p.Ala39Ala|413/1271|117/975|39/324||,A|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|3/12|c.258G>A|p.Ala86Ala|373/1949|258/1377|86/458||,A|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|2/11|c.201G>A|p.Ala67Ala|307/1886|201/1320|67/439||,A|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|3/13|c.117G>A|p.Ala39Ala|505/2267|117/1413|39/470||,A|3_prime_UTR_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441936|nonsense_mediated_decay|4/4|n.*241G>A|||||4213|,A|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000496139|processed_transcript||n.*530G>A|||||23|,A|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441936|nonsense_mediated_decay|4/4|n.*241G>A||||||,A|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000486163|processed_transcript|4/4|n.481G>A||||||,A|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|3/12|n.258G>A||||||,A|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000472791|processed_transcript|4/4|n.422G>A||||||,A|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|4/14|n.117G>A|||||| 22 47189551 . C T . . ANN=T|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|3/13|c.273C>T|p.Ser91Ser|439/3787|273/1554|91/517||,T|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000380995|protein_coding|3/9|c.132C>T|p.Ser44Ser|428/1271|132/975|44/324||,T|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|3/12|c.273C>T|p.Ser91Ser|388/1949|273/1377|91/458||,T|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|2/11|c.216C>T|p.Ser72Ser|322/1886|216/1320|72/439||,T|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|3/13|c.132C>T|p.Ser44Ser|520/2267|132/1413|44/470||,T|3_prime_UTR_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441936|nonsense_mediated_decay|4/4|n.*256C>T|||||4228|,T|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000496139|processed_transcript||n.*530C>T|||||38|,T|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441936|nonsense_mediated_decay|4/4|n.*256C>T||||||,T|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000486163|processed_transcript|4/4|n.496C>T||||||,T|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|3/12|n.273C>T||||||,T|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000472791|processed_transcript|4/4|n.437C>T||||||,T|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|4/14|n.132C>T|||||| 22 47189552 . G A . . ANN=A|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|3/13|c.274G>A|p.Glu92Lys|440/3787|274/1554|92/517||,A|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000380995|protein_coding|3/9|c.133G>A|p.Glu45Lys|429/1271|133/975|45/324||,A|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|3/12|c.274G>A|p.Glu92Lys|389/1949|274/1377|92/458||,A|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|2/11|c.217G>A|p.Glu73Lys|323/1886|217/1320|73/439||,A|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|3/13|c.133G>A|p.Glu45Lys|521/2267|133/1413|45/470||,A|3_prime_UTR_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441936|nonsense_mediated_decay|4/4|n.*257G>A|||||4229|,A|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000496139|processed_transcript||n.*530G>A|||||39|,A|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441936|nonsense_mediated_decay|4/4|n.*257G>A||||||,A|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000486163|processed_transcript|4/4|n.497G>A||||||,A|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|3/12|n.274G>A||||||,A|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000472791|processed_transcript|4/4|n.438G>A||||||,A|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|4/14|n.133G>A|||||| 22 47189569 . G A . . ANN=A|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|3/13|c.291G>A|p.Thr97Thr|457/3787|291/1554|97/517||,A|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000380995|protein_coding|3/9|c.150G>A|p.Thr50Thr|446/1271|150/975|50/324||,A|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|3/12|c.291G>A|p.Thr97Thr|406/1949|291/1377|97/458||,A|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|2/11|c.234G>A|p.Thr78Thr|340/1886|234/1320|78/439||,A|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|3/13|c.150G>A|p.Thr50Thr|538/2267|150/1413|50/470||,A|3_prime_UTR_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441936|nonsense_mediated_decay|4/4|n.*274G>A|||||4246|,A|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000486163|processed_transcript||n.*513G>A|||||1|,A|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000496139|processed_transcript||n.*530G>A|||||56|,A|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441936|nonsense_mediated_decay|4/4|n.*274G>A||||||,A|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|3/12|n.291G>A||||||,A|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000472791|processed_transcript|4/4|n.455G>A||||||,A|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|4/14|n.150G>A|||||| 22 47189616 . C T . . ANN=T|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|3/13|c.338C>T|p.Thr113Met|504/3787|338/1554|113/517||,T|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000380995|protein_coding|3/9|c.197C>T|p.Thr66Met|493/1271|197/975|66/324||,T|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|3/12|c.338C>T|p.Thr113Met|453/1949|338/1377|113/458||,T|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|2/11|c.281C>T|p.Thr94Met|387/1886|281/1320|94/439||,T|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|3/13|c.197C>T|p.Thr66Met|585/2267|197/1413|66/470||,T|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441936|nonsense_mediated_decay||n.*313C>T|||||44|,T|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000486163|processed_transcript||n.*513C>T|||||48|,T|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000496139|processed_transcript||n.*530C>T|||||103|,T|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|3/12|n.338C>T||||||,T|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000472791|processed_transcript|4/4|n.502C>T||||||,T|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|4/14|n.197C>T|||||| 22 47189630 . C T . . ANN=T|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|3/13|c.352C>T|p.Pro118Ser|518/3787|352/1554|118/517||,T|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000380995|protein_coding|3/9|c.211C>T|p.Pro71Ser|507/1271|211/975|71/324||,T|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|3/12|c.352C>T|p.Pro118Ser|467/1949|352/1377|118/458||,T|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|2/11|c.295C>T|p.Pro99Ser|401/1886|295/1320|99/439||,T|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|3/13|c.211C>T|p.Pro71Ser|599/2267|211/1413|71/470||,T|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441936|nonsense_mediated_decay||n.*313C>T|||||58|,T|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000486163|processed_transcript||n.*513C>T|||||62|,T|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000496139|processed_transcript||n.*530C>T|||||117|,T|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|3/12|n.352C>T||||||,T|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000472791|processed_transcript|4/4|n.516C>T||||||,T|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|4/14|n.211C>T|||||| 22 47189678 . C G . . ANN=G|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|3/13|c.400C>G|p.Pro134Ala|566/3787|400/1554|134/517||,G|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000380995|protein_coding|3/9|c.259C>G|p.Pro87Ala|555/1271|259/975|87/324||,G|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|3/12|c.400C>G|p.Pro134Ala|515/1949|400/1377|134/458||,G|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|2/11|c.343C>G|p.Pro115Ala|449/1886|343/1320|115/439||,G|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|3/13|c.259C>G|p.Pro87Ala|647/2267|259/1413|87/470||,G|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441936|nonsense_mediated_decay||n.*313C>G|||||106|,G|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000486163|processed_transcript||n.*513C>G|||||110|,G|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000496139|processed_transcript||n.*530C>G|||||165|,G|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000472791|processed_transcript||n.*558C>G|||||6|,G|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|3/12|n.400C>G||||||,G|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|4/14|n.259C>G|||||| 22 47189679 . C G . . ANN=G|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|3/13|c.401C>G|p.Pro134Arg|567/3787|401/1554|134/517||,G|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000380995|protein_coding|3/9|c.260C>G|p.Pro87Arg|556/1271|260/975|87/324||,G|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|3/12|c.401C>G|p.Pro134Arg|516/1949|401/1377|134/458||,G|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|2/11|c.344C>G|p.Pro115Arg|450/1886|344/1320|115/439||,G|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|3/13|c.260C>G|p.Pro87Arg|648/2267|260/1413|87/470||,G|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441936|nonsense_mediated_decay||n.*313C>G|||||107|,G|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000486163|processed_transcript||n.*513C>G|||||111|,G|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000496139|processed_transcript||n.*530C>G|||||166|,G|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000472791|processed_transcript||n.*558C>G|||||7|,G|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|3/12|n.401C>G||||||,G|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|4/14|n.260C>G|||||| 22 47189686 . C T . . ANN=T|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|3/13|c.408C>T|p.Gly136Gly|574/3787|408/1554|136/517||,T|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000380995|protein_coding|3/9|c.267C>T|p.Gly89Gly|563/1271|267/975|89/324||,T|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|3/12|c.408C>T|p.Gly136Gly|523/1949|408/1377|136/458||,T|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|2/11|c.351C>T|p.Gly117Gly|457/1886|351/1320|117/439||,T|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|3/13|c.267C>T|p.Gly89Gly|655/2267|267/1413|89/470||,T|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441936|nonsense_mediated_decay||n.*313C>T|||||114|,T|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000486163|processed_transcript||n.*513C>T|||||118|,T|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000496139|processed_transcript||n.*530C>T|||||173|,T|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000472791|processed_transcript||n.*558C>T|||||14|,T|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|3/12|n.408C>T||||||,T|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|4/14|n.267C>T|||||| 22 47189747 . G C . . ANN=C|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441936|nonsense_mediated_decay||n.*313G>C|||||175|,C|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000486163|processed_transcript||n.*513G>C|||||179|,C|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000496139|processed_transcript||n.*530G>C|||||234|,C|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000472791|processed_transcript||n.*558G>C|||||75|,C|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|3/12|c.460+9G>C||||||,C|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000380995|protein_coding|3/8|c.319+9G>C||||||,C|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|3/11|c.460+9G>C||||||,C|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|2/10|c.403+9G>C||||||,C|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|3/11|n.460+9G>C||||||,C|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|4/13|n.319+9G>C||||||,C|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|3/12|c.319+9G>C|||||| 22 47193295 . C T . . ANN=T|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441936|nonsense_mediated_decay||n.*313C>T|||||3723|,T|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000486163|processed_transcript||n.*513C>T|||||3727|,T|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000496139|processed_transcript||n.*530C>T|||||3782|,T|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000472791|processed_transcript||n.*558C>T|||||3623|,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|3/12|c.461-46C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000380995|protein_coding|3/8|c.320-46C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|3/11|c.460+3557C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|2/10|c.403+3557C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|3/11|n.461-46C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|4/13|n.320-46C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|3/12|c.320-46C>T|||||| 22 47193392 . C T . . ANN=T|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|4/13|c.512C>T|p.Ser171Leu|678/3787|512/1554|171/517||,T|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000380995|protein_coding|4/9|c.371C>T|p.Ser124Leu|667/1271|371/975|124/324||,T|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|4/13|c.371C>T|p.Ser124Leu|759/2267|371/1413|124/470||,T|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441936|nonsense_mediated_decay||n.*313C>T|||||3820|,T|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000486163|processed_transcript||n.*513C>T|||||3824|,T|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000496139|processed_transcript||n.*530C>T|||||3879|,T|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000472791|processed_transcript||n.*558C>T|||||3720|,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|3/11|c.460+3654C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|2/10|c.403+3654C>T||||||,T|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|4/12|n.512C>T||||||,T|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|5/14|n.371C>T|||||| 22 47193393 . G A . . ANN=A|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|4/13|c.513G>A|p.Ser171Ser|679/3787|513/1554|171/517||,A|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000380995|protein_coding|4/9|c.372G>A|p.Ser124Ser|668/1271|372/975|124/324||,A|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|4/13|c.372G>A|p.Ser124Ser|760/2267|372/1413|124/470||,A|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441936|nonsense_mediated_decay||n.*313G>A|||||3821|,A|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000486163|processed_transcript||n.*513G>A|||||3825|,A|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000496139|processed_transcript||n.*530G>A|||||3880|,A|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000472791|processed_transcript||n.*558G>A|||||3721|,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|3/11|c.460+3655G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|2/10|c.403+3655G>A||||||,A|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|4/12|n.513G>A||||||,A|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|5/14|n.372G>A|||||| 22 47193404 . C T . . ANN=T|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|4/13|c.524C>T|p.Thr175Met|690/3787|524/1554|175/517||,T|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000380995|protein_coding|4/9|c.383C>T|p.Thr128Met|679/1271|383/975|128/324||,T|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|4/13|c.383C>T|p.Thr128Met|771/2267|383/1413|128/470||,T|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441936|nonsense_mediated_decay||n.*313C>T|||||3832|,T|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000486163|processed_transcript||n.*513C>T|||||3836|,T|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000496139|processed_transcript||n.*530C>T|||||3891|,T|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000472791|processed_transcript||n.*558C>T|||||3732|,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|3/11|c.460+3666C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|2/10|c.403+3666C>T||||||,T|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|4/12|n.524C>T||||||,T|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|5/14|n.383C>T|||||| 22 47274631 . C T . . ANN=T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|7/13|c.708+12C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|8/13|c.708+12C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|5/13|c.708+12C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|11/13|c.708+12C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|12/13|c.708+12C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|10/13|c.708+12C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|6/13|c.708+12C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|9/13|c.708+12C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|3/11|c.474+12C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|9/11|c.474+12C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|10/11|c.474+12C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|8/11|c.474+12C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|4/11|c.474+12C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|5/11|c.474+12C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|6/11|c.474+12C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|7/11|c.474+12C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|7/13|c.567+12C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|8/13|c.567+12C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|5/13|c.567+12C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|11/13|c.567+12C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|12/13|c.567+12C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|10/13|c.567+12C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|6/13|c.567+12C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|9/13|c.567+12C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|5/12|c.708+12C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000380995|protein_coding|5/8|c.567+12C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|4/11|c.531+12C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|3/10|c.474+12C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|4/11|n.638-12531C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|6/13|n.567+12C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|5/12|c.567+12C>T|||||| 22 47274638 . C T . . ANN=T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|7/13|c.708+19C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|8/13|c.708+19C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|5/13|c.708+19C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|11/13|c.708+19C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|12/13|c.708+19C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|10/13|c.708+19C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|6/13|c.708+19C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|9/13|c.708+19C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|3/11|c.474+19C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|9/11|c.474+19C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|10/11|c.474+19C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|8/11|c.474+19C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|4/11|c.474+19C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|5/11|c.474+19C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|6/11|c.474+19C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|7/11|c.474+19C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|7/13|c.567+19C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|8/13|c.567+19C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|5/13|c.567+19C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|11/13|c.567+19C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|12/13|c.567+19C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|10/13|c.567+19C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|6/13|c.567+19C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|9/13|c.567+19C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|5/12|c.708+19C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000380995|protein_coding|5/8|c.567+19C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|4/11|c.531+19C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|3/10|c.474+19C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|4/11|n.638-12524C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|6/13|n.567+19C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|5/12|c.567+19C>T|||||| 22 47274647 . G A . . ANN=A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|7/13|c.708+28G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|8/13|c.708+28G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|5/13|c.708+28G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|11/13|c.708+28G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|12/13|c.708+28G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|10/13|c.708+28G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|6/13|c.708+28G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|9/13|c.708+28G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|3/11|c.474+28G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|9/11|c.474+28G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|10/11|c.474+28G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|8/11|c.474+28G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|4/11|c.474+28G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|5/11|c.474+28G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|6/11|c.474+28G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|7/11|c.474+28G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|7/13|c.567+28G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|8/13|c.567+28G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|5/13|c.567+28G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|11/13|c.567+28G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|12/13|c.567+28G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|10/13|c.567+28G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|6/13|c.567+28G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|9/13|c.567+28G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|5/12|c.708+28G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000380995|protein_coding|5/8|c.567+28G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|4/11|c.531+28G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|3/10|c.474+28G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|4/11|n.638-12515G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|6/13|n.567+28G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|5/12|c.567+28G>A|||||| 22 47287126 . A G . . ANN=G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|7/13|c.709-36A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|8/13|c.709-36A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|5/13|c.709-36A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|11/13|c.709-36A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|12/13|c.709-36A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|10/13|c.709-36A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|6/13|c.709-36A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|9/13|c.709-36A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|3/11|c.475-36A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|9/11|c.475-36A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|10/11|c.475-36A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|8/11|c.475-36A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|4/11|c.475-36A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|5/11|c.475-36A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|6/11|c.475-36A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|7/11|c.475-36A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|7/13|c.568-36A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|8/13|c.568-36A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|5/13|c.568-36A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|11/13|c.568-36A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|12/13|c.568-36A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|10/13|c.568-36A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|6/13|c.568-36A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|9/13|c.568-36A>G||||||,G|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|5/12|c.709-36A>G||||||,G|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000380995|protein_coding|5/8|c.568-36A>G||||||,G|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|4/11|c.532-36A>G||||||,G|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|3/10|c.475-36A>G||||||,G|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|4/11|n.638-36A>G||||||,G|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|6/13|n.568-36A>G||||||,G|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|5/12|c.568-36A>G|||||| 22 47287129 . A G . . ANN=G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|7/13|c.709-33A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|8/13|c.709-33A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|5/13|c.709-33A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|11/13|c.709-33A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|12/13|c.709-33A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|10/13|c.709-33A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|6/13|c.709-33A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|9/13|c.709-33A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|3/11|c.475-33A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|9/11|c.475-33A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|10/11|c.475-33A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|8/11|c.475-33A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|4/11|c.475-33A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|5/11|c.475-33A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|6/11|c.475-33A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|7/11|c.475-33A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|7/13|c.568-33A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|8/13|c.568-33A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|5/13|c.568-33A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|11/13|c.568-33A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|12/13|c.568-33A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|10/13|c.568-33A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|6/13|c.568-33A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|9/13|c.568-33A>G||||||,G|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|5/12|c.709-33A>G||||||,G|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000380995|protein_coding|5/8|c.568-33A>G||||||,G|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|4/11|c.532-33A>G||||||,G|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|3/10|c.475-33A>G||||||,G|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|4/11|n.638-33A>G||||||,G|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|6/13|n.568-33A>G||||||,G|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|5/12|c.568-33A>G|||||| 22 47287174 . G A . . ANN=A|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|6/13|c.721G>A|p.Ala241Thr|887/3787|721/1554|241/517||,A|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000380995|protein_coding|6/9|c.580G>A|p.Ala194Thr|876/1271|580/975|194/324||,A|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|5/12|c.544G>A|p.Ala182Thr|659/1949|544/1377|182/458||,A|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|4/11|c.487G>A|p.Ala163Thr|593/1886|487/1320|163/439||,A|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|6/13|c.580G>A|p.Ala194Thr|968/2267|580/1413|194/470||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|7/13|c.721G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|8/13|c.721G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|5/13|c.721G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|11/13|c.721G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|12/13|c.721G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|10/13|c.721G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|6/13|c.721G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|9/13|c.721G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|3/11|c.487G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|9/11|c.487G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|10/11|c.487G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|8/11|c.487G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|4/11|c.487G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|5/11|c.487G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|6/11|c.487G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|7/11|c.487G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|7/13|c.580G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|8/13|c.580G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|5/13|c.580G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|11/13|c.580G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|12/13|c.580G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|10/13|c.580G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|6/13|c.580G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|9/13|c.580G>A||||||,A|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|5/12|n.650G>A||||||,A|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|7/14|n.580G>A|||||| 22 47287248 . C T . . ANN=T|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|6/13|c.795C>T|p.Tyr265Tyr|961/3787|795/1554|265/517||,T|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000380995|protein_coding|6/9|c.654C>T|p.Tyr218Tyr|950/1271|654/975|218/324||,T|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|5/12|c.618C>T|p.Tyr206Tyr|733/1949|618/1377|206/458||,T|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|4/11|c.561C>T|p.Tyr187Tyr|667/1886|561/1320|187/439||,T|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|6/13|c.654C>T|p.Tyr218Tyr|1042/2267|654/1413|218/470||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|7/13|c.795C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|8/13|c.795C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|5/13|c.795C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|11/13|c.795C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|12/13|c.795C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|10/13|c.795C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|6/13|c.795C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|9/13|c.795C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|3/11|c.561C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|9/11|c.561C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|10/11|c.561C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|8/11|c.561C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|4/11|c.561C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|5/11|c.561C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|6/11|c.561C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|7/11|c.561C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|7/13|c.654C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|8/13|c.654C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|5/13|c.654C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|11/13|c.654C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|12/13|c.654C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|10/13|c.654C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|6/13|c.654C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|9/13|c.654C>T||||||,T|3_prime_UTR_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|5/12|n.*10C>T|||||10|,T|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|5/12|n.*10C>T||||||,T|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|7/14|n.654C>T|||||| 22 47287260 . C T . . ANN=T|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|6/13|c.807C>T|p.Asn269Asn|973/3787|807/1554|269/517||,T|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000380995|protein_coding|6/9|c.666C>T|p.Asn222Asn|962/1271|666/975|222/324||,T|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|5/12|c.630C>T|p.Asn210Asn|745/1949|630/1377|210/458||,T|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|4/11|c.573C>T|p.Asn191Asn|679/1886|573/1320|191/439||,T|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|6/13|c.666C>T|p.Asn222Asn|1054/2267|666/1413|222/470||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|7/13|c.807C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|8/13|c.807C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|5/13|c.807C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|11/13|c.807C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|12/13|c.807C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|10/13|c.807C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|6/13|c.807C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|9/13|c.807C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|3/11|c.573C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|9/11|c.573C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|10/11|c.573C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|8/11|c.573C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|4/11|c.573C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|5/11|c.573C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|6/11|c.573C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|7/11|c.573C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|7/13|c.666C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|8/13|c.666C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|5/13|c.666C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|11/13|c.666C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|12/13|c.666C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|10/13|c.666C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|6/13|c.666C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|9/13|c.666C>T||||||,T|3_prime_UTR_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|5/12|n.*22C>T|||||22|,T|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|5/12|n.*22C>T||||||,T|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|7/14|n.666C>T|||||| 22 47287299 . C G . . ANN=G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|7/13|c.837+9C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|8/13|c.837+9C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|5/13|c.837+9C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|11/13|c.837+9C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|12/13|c.837+9C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|10/13|c.837+9C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|6/13|c.837+9C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|9/13|c.837+9C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000337137|protein_coding|7/13|c.837+9C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000337137|protein_coding|6/13|c.837+9C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000380995|protein_coding|6/9|c.696+9C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000380995|protein_coding|7/9|c.696+9C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|3/11|c.603+9C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|9/11|c.603+9C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|10/11|c.603+9C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|8/11|c.603+9C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|4/11|c.603+9C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|5/11|c.603+9C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|6/11|c.603+9C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|7/11|c.603+9C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000355704|protein_coding|4/11|c.603+9C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000355704|protein_coding|5/11|c.603+9C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|7/13|c.696+9C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|8/13|c.696+9C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|5/13|c.696+9C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|11/13|c.696+9C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|12/13|c.696+9C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|10/13|c.696+9C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|6/13|c.696+9C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|9/13|c.696+9C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000406733|protein_coding|7/13|c.696+9C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000406733|protein_coding|6/13|c.696+9C>G||||||,G|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|6/12|c.837+9C>G||||||,G|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000380995|protein_coding|6/8|c.696+9C>G||||||,G|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|5/11|c.660+9C>G||||||,G|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|4/10|c.603+9C>G||||||,G|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|5/11|n.*52+9C>G||||||,G|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|7/13|n.696+9C>G||||||,G|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|6/12|c.696+9C>G|||||| 22 47287310 . T A . . ANN=A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|7/13|c.837+20T>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|8/13|c.837+20T>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|5/13|c.837+20T>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|11/13|c.837+20T>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|12/13|c.837+20T>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|10/13|c.837+20T>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|6/13|c.837+20T>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|9/13|c.837+20T>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000337137|protein_coding|7/13|c.837+20T>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000337137|protein_coding|6/13|c.837+20T>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000380995|protein_coding|6/9|c.696+20T>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000380995|protein_coding|7/9|c.696+20T>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|3/11|c.603+20T>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|9/11|c.603+20T>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|10/11|c.603+20T>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|8/11|c.603+20T>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|4/11|c.603+20T>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|5/11|c.603+20T>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|6/11|c.603+20T>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|7/11|c.603+20T>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000355704|protein_coding|4/11|c.603+20T>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000355704|protein_coding|5/11|c.603+20T>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|7/13|c.696+20T>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|8/13|c.696+20T>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|5/13|c.696+20T>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|11/13|c.696+20T>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|12/13|c.696+20T>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|10/13|c.696+20T>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|6/13|c.696+20T>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|9/13|c.696+20T>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000406733|protein_coding|7/13|c.696+20T>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000406733|protein_coding|6/13|c.696+20T>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|6/12|c.837+20T>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000380995|protein_coding|6/8|c.696+20T>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|5/11|c.660+20T>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|4/10|c.603+20T>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|5/11|n.*52+20T>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|7/13|n.696+20T>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|6/12|c.696+20T>A|||||| 22 47287311 . TC T . . ANN=|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|7/13|c.837+22delC||||||,|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|8/13|c.837+22delC||||||,|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|5/13|c.837+22delC||||||,|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|11/13|c.837+22delC||||||,|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|12/13|c.837+22delC||||||,|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|10/13|c.837+22delC||||||,|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|6/13|c.837+22delC||||||,|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|9/13|c.837+22delC||||||,|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000337137|protein_coding|7/13|c.837+22delC||||||,|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000337137|protein_coding|6/13|c.837+22delC||||||,|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000380995|protein_coding|6/9|c.696+22delC||||||,|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000380995|protein_coding|7/9|c.696+22delC||||||,|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|3/11|c.603+22delC||||||,|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|9/11|c.603+22delC||||||,|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|10/11|c.603+22delC||||||,|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|8/11|c.603+22delC||||||,|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|4/11|c.603+22delC||||||,|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|5/11|c.603+22delC||||||,|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|6/11|c.603+22delC||||||,|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|7/11|c.603+22delC||||||,|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000355704|protein_coding|4/11|c.603+22delC||||||,|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000355704|protein_coding|5/11|c.603+22delC||||||,|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|7/13|c.696+22delC||||||,|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|8/13|c.696+22delC||||||,|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|5/13|c.696+22delC||||||,|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|11/13|c.696+22delC||||||,|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|12/13|c.696+22delC||||||,|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|10/13|c.696+22delC||||||,|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|6/13|c.696+22delC||||||,|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|9/13|c.696+22delC||||||,|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000406733|protein_coding|7/13|c.696+22delC||||||,|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000406733|protein_coding|6/13|c.696+22delC||||||,|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|6/12|c.837+22delC||||||,|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000380995|protein_coding|6/8|c.696+22delC||||||,|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|5/11|c.660+22delC||||||,|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|4/10|c.603+22delC||||||,|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|5/11|n.*52+22delC||||||,|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|7/13|n.696+22delC||||||,|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|6/12|c.696+22delC|||||| 22 47287333 . T C . . ANN=C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|7/13|c.837+43T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|8/13|c.837+43T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|5/13|c.837+43T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|11/13|c.837+43T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|12/13|c.837+43T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|10/13|c.837+43T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|6/13|c.837+43T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|9/13|c.837+43T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000337137|protein_coding|7/13|c.837+43T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000337137|protein_coding|6/13|c.837+43T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000380995|protein_coding|6/9|c.696+43T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000380995|protein_coding|7/9|c.696+43T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|3/11|c.603+43T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|9/11|c.603+43T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|10/11|c.603+43T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|8/11|c.603+43T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|4/11|c.603+43T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|5/11|c.603+43T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|6/11|c.603+43T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|7/11|c.603+43T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000355704|protein_coding|4/11|c.603+43T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000355704|protein_coding|5/11|c.603+43T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|7/13|c.696+43T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|8/13|c.696+43T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|5/13|c.696+43T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|11/13|c.696+43T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|12/13|c.696+43T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|10/13|c.696+43T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|6/13|c.696+43T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|9/13|c.696+43T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000406733|protein_coding|7/13|c.696+43T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000406733|protein_coding|6/13|c.696+43T>C||||||,C|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|6/12|c.837+43T>C||||||,C|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000380995|protein_coding|6/8|c.696+43T>C||||||,C|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|5/11|c.660+43T>C||||||,C|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|4/10|c.603+43T>C||||||,C|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|5/11|n.*52+43T>C||||||,C|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|7/13|n.696+43T>C||||||,C|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|6/12|c.696+43T>C|||||| 22 47307934 . A T . . ANN=T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|7/13|c.901-36A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|8/13|c.901-36A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|5/13|c.901-36A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|11/13|c.901-36A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|12/13|c.901-36A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|10/13|c.901-36A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|6/13|c.901-36A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|9/13|c.901-36A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000337137|protein_coding|7/13|c.901-36A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000337137|protein_coding|8/13|c.901-36A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000380995|protein_coding|7/9|c.760-36A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000380995|protein_coding|8/9|c.760-36A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|3/11|c.667-36A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|9/11|c.667-36A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|10/11|c.667-36A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|8/11|c.667-36A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|4/11|c.667-36A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|5/11|c.667-36A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|6/11|c.667-36A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|7/11|c.667-36A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000355704|protein_coding|5/11|c.667-36A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000355704|protein_coding|6/11|c.667-36A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|7/13|c.760-36A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|8/13|c.760-36A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|5/13|c.760-36A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|11/13|c.760-36A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|12/13|c.760-36A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|10/13|c.760-36A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|6/13|c.760-36A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|9/13|c.760-36A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000406733|protein_coding|7/13|c.760-36A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000406733|protein_coding|8/13|c.760-36A>T||||||,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|7/12|c.901-36A>T||||||,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000380995|protein_coding|7/8|c.760-36A>T||||||,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|6/11|c.724-36A>T||||||,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|5/10|c.667-36A>T||||||,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|6/11|n.*116-36A>T||||||,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|8/13|n.760-36A>T||||||,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|7/12|c.760-36A>T|||||| 22 47307949 . A T . . ANN=T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|7/13|c.901-21A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|8/13|c.901-21A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|5/13|c.901-21A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|11/13|c.901-21A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|12/13|c.901-21A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|10/13|c.901-21A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|6/13|c.901-21A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|9/13|c.901-21A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000337137|protein_coding|7/13|c.901-21A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000337137|protein_coding|8/13|c.901-21A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000380995|protein_coding|7/9|c.760-21A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000380995|protein_coding|8/9|c.760-21A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|3/11|c.667-21A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|9/11|c.667-21A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|10/11|c.667-21A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|8/11|c.667-21A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|4/11|c.667-21A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|5/11|c.667-21A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|6/11|c.667-21A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|7/11|c.667-21A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000355704|protein_coding|5/11|c.667-21A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000355704|protein_coding|6/11|c.667-21A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|7/13|c.760-21A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|8/13|c.760-21A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|5/13|c.760-21A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|11/13|c.760-21A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|12/13|c.760-21A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|10/13|c.760-21A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|6/13|c.760-21A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|9/13|c.760-21A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000406733|protein_coding|7/13|c.760-21A>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000406733|protein_coding|8/13|c.760-21A>T||||||,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|7/12|c.901-21A>T||||||,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000380995|protein_coding|7/8|c.760-21A>T||||||,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|6/11|c.724-21A>T||||||,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|5/10|c.667-21A>T||||||,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|6/11|n.*116-21A>T||||||,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|8/13|n.760-21A>T||||||,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|7/12|c.760-21A>T|||||| 22 47308023 . C T . . ANN=T|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|8/13|c.954C>T|p.Tyr318Tyr|1120/3787|954/1554|318/517||,T|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000380995|protein_coding|8/9|c.813C>T|p.Tyr271Tyr|1109/1271|813/975|271/324||,T|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|7/12|c.777C>T|p.Tyr259Tyr|892/1949|777/1377|259/458||,T|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|6/11|c.720C>T|p.Tyr240Tyr|826/1886|720/1320|240/439||,T|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|8/13|c.813C>T|p.Tyr271Tyr|1201/2267|813/1413|271/470||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|7/13|c.954C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|8/13|c.954C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|5/13|c.954C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|11/13|c.954C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|12/13|c.954C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|10/13|c.954C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|6/13|c.954C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|9/13|c.954C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|3/11|c.720C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|9/11|c.720C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|10/11|c.720C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|8/11|c.720C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|4/11|c.720C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|5/11|c.720C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|6/11|c.720C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|7/11|c.720C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|7/13|c.813C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|8/13|c.813C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|5/13|c.813C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|11/13|c.813C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|12/13|c.813C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|10/13|c.813C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|6/13|c.813C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|9/13|c.813C>T||||||,T|3_prime_UTR_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|7/12|n.*169C>T|||||20785|,T|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|7/12|n.*169C>T||||||,T|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|9/14|n.813C>T|||||| 22 47370141 . G A . . ANN=A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|7/13|c.1016-45G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|8/13|c.1016-45G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|5/13|c.1016-45G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|11/13|c.1016-45G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|12/13|c.1016-45G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|10/13|c.1016-45G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|6/13|c.1016-45G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|9/13|c.1016-45G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|3/11|c.782-45G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|9/11|c.782-45G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|10/11|c.782-45G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|8/11|c.782-45G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|4/11|c.782-45G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|5/11|c.782-45G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|6/11|c.782-45G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|7/11|c.782-45G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|7/13|c.875-45G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|8/13|c.875-45G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|5/13|c.875-45G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|11/13|c.875-45G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|12/13|c.875-45G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|10/13|c.875-45G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|6/13|c.875-45G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|9/13|c.875-45G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|8/12|c.1016-45G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|7/11|c.839-45G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|6/10|c.782-45G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|7/11|n.*231-45G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|10/13|n.*13-23389G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|8/12|c.875-45G>A|||||| 22 47370205 . G A . . ANN=A|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|9/13|c.1035G>A|p.Thr345Thr|1201/3787|1035/1554|345/517||,A|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|8/12|c.858G>A|p.Thr286Thr|973/1949|858/1377|286/458||,A|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|7/11|c.801G>A|p.Thr267Thr|907/1886|801/1320|267/439||,A|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|9/13|c.894G>A|p.Thr298Thr|1282/2267|894/1413|298/470||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|7/13|c.1035G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|8/13|c.1035G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|5/13|c.1035G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|11/13|c.1035G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|12/13|c.1035G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|10/13|c.1035G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|6/13|c.1035G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|9/13|c.1035G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|3/11|c.801G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|9/11|c.801G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|10/11|c.801G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|8/11|c.801G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|4/11|c.801G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|5/11|c.801G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|6/11|c.801G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|7/11|c.801G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|7/13|c.894G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|8/13|c.894G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|5/13|c.894G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|11/13|c.894G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|12/13|c.894G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|10/13|c.894G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|6/13|c.894G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|9/13|c.894G>A||||||,A|3_prime_UTR_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|8/12|n.*250G>A|||||82967|,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|10/13|n.*13-23325G>A||||||,A|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|8/12|n.*250G>A|||||| 22 47370226 . C T . . ANN=T|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|9/13|c.1056C>T|p.Pro352Pro|1222/3787|1056/1554|352/517||,T|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|8/12|c.879C>T|p.Pro293Pro|994/1949|879/1377|293/458||,T|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|7/11|c.822C>T|p.Pro274Pro|928/1886|822/1320|274/439||,T|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|9/13|c.915C>T|p.Pro305Pro|1303/2267|915/1413|305/470||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|7/13|c.1056C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|8/13|c.1056C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|5/13|c.1056C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|11/13|c.1056C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|12/13|c.1056C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|10/13|c.1056C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|6/13|c.1056C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|9/13|c.1056C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|3/11|c.822C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|9/11|c.822C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|10/11|c.822C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|8/11|c.822C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|4/11|c.822C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|5/11|c.822C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|6/11|c.822C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|7/11|c.822C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|7/13|c.915C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|8/13|c.915C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|5/13|c.915C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|11/13|c.915C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|12/13|c.915C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|10/13|c.915C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|6/13|c.915C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|9/13|c.915C>T||||||,T|3_prime_UTR_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|8/12|n.*271C>T|||||82988|,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|10/13|n.*13-23304C>T||||||,T|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|8/12|n.*271C>T|||||| 22 47370306 . G A . . ANN=A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|7/13|c.1125+11G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|8/13|c.1125+11G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|5/13|c.1125+11G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|11/13|c.1125+11G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|12/13|c.1125+11G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|10/13|c.1125+11G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|6/13|c.1125+11G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|9/13|c.1125+11G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000337137|protein_coding|10/13|c.1125+11G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000337137|protein_coding|9/13|c.1125+11G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|3/11|c.891+11G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|9/11|c.891+11G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|10/11|c.891+11G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|8/11|c.891+11G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|4/11|c.891+11G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|5/11|c.891+11G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|6/11|c.891+11G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|7/11|c.891+11G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000355704|protein_coding|8/11|c.891+11G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000355704|protein_coding|7/11|c.891+11G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|7/13|c.984+11G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|8/13|c.984+11G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|5/13|c.984+11G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|11/13|c.984+11G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|12/13|c.984+11G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|10/13|c.984+11G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|6/13|c.984+11G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|9/13|c.984+11G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000406733|protein_coding|10/13|c.984+11G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000406733|protein_coding|9/13|c.984+11G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|9/12|c.1125+11G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|8/11|c.948+11G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|7/10|c.891+11G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|8/11|n.*340+11G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|10/13|n.*13-23224G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|9/12|c.984+11G>A|||||| 22 47370308 . G A . . ANN=A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|7/13|c.1125+13G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|8/13|c.1125+13G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|5/13|c.1125+13G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|11/13|c.1125+13G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|12/13|c.1125+13G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|10/13|c.1125+13G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|6/13|c.1125+13G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|9/13|c.1125+13G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000337137|protein_coding|10/13|c.1125+13G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000337137|protein_coding|9/13|c.1125+13G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|3/11|c.891+13G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|9/11|c.891+13G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|10/11|c.891+13G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|8/11|c.891+13G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|4/11|c.891+13G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|5/11|c.891+13G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|6/11|c.891+13G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|7/11|c.891+13G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000355704|protein_coding|8/11|c.891+13G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000355704|protein_coding|7/11|c.891+13G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|7/13|c.984+13G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|8/13|c.984+13G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|5/13|c.984+13G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|11/13|c.984+13G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|12/13|c.984+13G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|10/13|c.984+13G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|6/13|c.984+13G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|9/13|c.984+13G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000406733|protein_coding|10/13|c.984+13G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000406733|protein_coding|9/13|c.984+13G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|9/12|c.1125+13G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|8/11|c.948+13G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|7/10|c.891+13G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|8/11|n.*340+13G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|10/13|n.*13-23222G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|9/12|c.984+13G>A|||||| 22 47370336 . C T . . ANN=T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|7/13|c.1125+41C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|8/13|c.1125+41C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|5/13|c.1125+41C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|11/13|c.1125+41C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|12/13|c.1125+41C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|10/13|c.1125+41C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|6/13|c.1125+41C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|9/13|c.1125+41C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000337137|protein_coding|10/13|c.1125+41C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000337137|protein_coding|9/13|c.1125+41C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|3/11|c.891+41C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|9/11|c.891+41C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|10/11|c.891+41C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|8/11|c.891+41C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|4/11|c.891+41C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|5/11|c.891+41C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|6/11|c.891+41C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|7/11|c.891+41C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000355704|protein_coding|8/11|c.891+41C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000355704|protein_coding|7/11|c.891+41C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|7/13|c.984+41C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|8/13|c.984+41C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|5/13|c.984+41C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|11/13|c.984+41C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|12/13|c.984+41C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|10/13|c.984+41C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|6/13|c.984+41C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|9/13|c.984+41C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000406733|protein_coding|10/13|c.984+41C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000406733|protein_coding|9/13|c.984+41C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|9/12|c.1125+41C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|8/11|c.948+41C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|7/10|c.891+41C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|8/11|n.*340+41C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|10/13|n.*13-23194C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|9/12|c.984+41C>T|||||| 22 47370343 . G A . . ANN=A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|7/13|c.1125+48G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|8/13|c.1125+48G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|5/13|c.1125+48G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|11/13|c.1125+48G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|12/13|c.1125+48G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|10/13|c.1125+48G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|6/13|c.1125+48G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|9/13|c.1125+48G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000337137|protein_coding|10/13|c.1125+48G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000337137|protein_coding|9/13|c.1125+48G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|3/11|c.891+48G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|9/11|c.891+48G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|10/11|c.891+48G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|8/11|c.891+48G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|4/11|c.891+48G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|5/11|c.891+48G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|6/11|c.891+48G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|7/11|c.891+48G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000355704|protein_coding|8/11|c.891+48G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000355704|protein_coding|7/11|c.891+48G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|7/13|c.984+48G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|8/13|c.984+48G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|5/13|c.984+48G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|11/13|c.984+48G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|12/13|c.984+48G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|10/13|c.984+48G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|6/13|c.984+48G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|9/13|c.984+48G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000406733|protein_coding|10/13|c.984+48G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000406733|protein_coding|9/13|c.984+48G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|9/12|c.1125+48G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|8/11|c.948+48G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|7/10|c.891+48G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|8/11|n.*340+48G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|10/13|n.*13-23187G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|9/12|c.984+48G>A|||||| 22 47393493 . T C . . ANN=C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|7/13|c.1126-37T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|8/13|c.1126-37T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|5/13|c.1126-37T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|11/13|c.1126-37T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|12/13|c.1126-37T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|10/13|c.1126-37T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|6/13|c.1126-37T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|9/13|c.1126-37T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000337137|protein_coding|10/13|c.1126-37T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000337137|protein_coding|9/13|c.1126-37T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|3/11|c.892-37T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|9/11|c.892-37T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|10/11|c.892-37T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|8/11|c.892-37T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|4/11|c.892-37T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|5/11|c.892-37T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|6/11|c.892-37T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|7/11|c.892-37T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000355704|protein_coding|8/11|c.892-37T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000355704|protein_coding|7/11|c.892-37T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|7/13|c.985-37T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|8/13|c.985-37T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|5/13|c.985-37T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|11/13|c.985-37T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|12/13|c.985-37T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|10/13|c.985-37T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|6/13|c.985-37T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|9/13|c.985-37T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000406733|protein_coding|10/13|c.985-37T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000406733|protein_coding|9/13|c.985-37T>C||||||,C|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|9/12|c.1126-37T>C||||||,C|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|8/11|c.949-37T>C||||||,C|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|7/10|c.892-37T>C||||||,C|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|8/11|n.*341-37T>C||||||,C|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|10/13|n.*13-37T>C||||||,C|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|9/12|c.985-37T>C|||||| 22 47393623 . G A . . ANN=A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|7/13|c.1201+18G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|8/13|c.1201+18G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|5/13|c.1201+18G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|11/13|c.1201+18G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|12/13|c.1201+18G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|10/13|c.1201+18G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|6/13|c.1201+18G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|9/13|c.1201+18G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000337137|protein_coding|11/13|c.1201+18G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000337137|protein_coding|10/13|c.1201+18G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|3/11|c.967+18G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|9/11|c.967+18G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|10/11|c.967+18G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|8/11|c.967+18G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|4/11|c.967+18G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|5/11|c.967+18G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|6/11|c.967+18G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|7/11|c.967+18G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000355704|protein_coding|9/11|c.967+18G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000355704|protein_coding|8/11|c.967+18G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|7/13|c.1060+18G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|8/13|c.1060+18G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|5/13|c.1060+18G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|11/13|c.1060+18G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|12/13|c.1060+18G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|10/13|c.1060+18G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|6/13|c.1060+18G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|9/13|c.1060+18G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000406733|protein_coding|11/13|c.1060+18G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000406733|protein_coding|10/13|c.1060+18G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|10/12|c.1201+18G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|9/11|c.1024+18G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|8/10|c.967+18G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|9/11|n.*416+18G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|11/13|n.*88+18G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|10/12|c.1060+18G>A|||||| 22 47393643 . G A . . ANN=A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|7/13|c.1201+38G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|8/13|c.1201+38G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|5/13|c.1201+38G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|11/13|c.1201+38G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|12/13|c.1201+38G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|10/13|c.1201+38G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|6/13|c.1201+38G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|9/13|c.1201+38G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000337137|protein_coding|11/13|c.1201+38G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000337137|protein_coding|10/13|c.1201+38G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|3/11|c.967+38G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|9/11|c.967+38G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|10/11|c.967+38G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|8/11|c.967+38G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|4/11|c.967+38G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|5/11|c.967+38G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|6/11|c.967+38G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|7/11|c.967+38G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000355704|protein_coding|9/11|c.967+38G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000355704|protein_coding|8/11|c.967+38G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|7/13|c.1060+38G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|8/13|c.1060+38G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|5/13|c.1060+38G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|11/13|c.1060+38G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|12/13|c.1060+38G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|10/13|c.1060+38G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|6/13|c.1060+38G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|9/13|c.1060+38G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000406733|protein_coding|11/13|c.1060+38G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000406733|protein_coding|10/13|c.1060+38G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|10/12|c.1201+38G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|9/11|c.1024+38G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|8/10|c.967+38G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|9/11|n.*416+38G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|11/13|n.*88+38G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|10/12|c.1060+38G>A|||||| 22 47432923 . A G . . ANN=G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|7/13|c.1202-44A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|8/13|c.1202-44A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|5/13|c.1202-44A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|11/13|c.1202-44A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|12/13|c.1202-44A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|10/13|c.1202-44A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|6/13|c.1202-44A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|9/13|c.1202-44A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000337137|protein_coding|11/13|c.1202-44A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000337137|protein_coding|10/13|c.1202-44A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|3/11|c.968-44A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|9/11|c.968-44A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|10/11|c.968-44A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|8/11|c.968-44A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|4/11|c.968-44A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|5/11|c.968-44A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|6/11|c.968-44A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|7/11|c.968-44A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000355704|protein_coding|9/11|c.968-44A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000355704|protein_coding|8/11|c.968-44A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|7/13|c.1061-44A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|8/13|c.1061-44A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|5/13|c.1061-44A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|11/13|c.1061-44A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|12/13|c.1061-44A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|10/13|c.1061-44A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|6/13|c.1061-44A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|9/13|c.1061-44A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000406733|protein_coding|11/13|c.1061-44A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000406733|protein_coding|10/13|c.1061-44A>G||||||,G|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|10/12|c.1202-44A>G||||||,G|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|9/11|c.1025-44A>G||||||,G|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|8/10|c.968-44A>G||||||,G|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|9/11|n.*417-44A>G||||||,G|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|11/13|n.*89-44A>G||||||,G|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|10/12|c.1061-44A>G|||||| 22 47432980 . G A . . ANN=A|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|11/13|c.1215G>A|p.Arg405Arg|1381/3787|1215/1554|405/517||,A|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|10/12|c.1038G>A|p.Arg346Arg|1153/1949|1038/1377|346/458||,A|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|9/11|c.981G>A|p.Arg327Arg|1087/1886|981/1320|327/439||,A|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|11/13|c.1074G>A|p.Arg358Arg|1462/2267|1074/1413|358/470||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|7/13|c.1215G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|8/13|c.1215G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|5/13|c.1215G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|11/13|c.1215G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|12/13|c.1215G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|10/13|c.1215G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|6/13|c.1215G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|9/13|c.1215G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000337137|protein_coding|11/13|c.1215G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000337137|protein_coding|10/13|c.1215G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|3/11|c.981G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|9/11|c.981G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|10/11|c.981G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|8/11|c.981G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|4/11|c.981G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|5/11|c.981G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|6/11|c.981G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|7/11|c.981G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000355704|protein_coding|9/11|c.981G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000355704|protein_coding|8/11|c.981G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|7/13|c.1074G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|8/13|c.1074G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|5/13|c.1074G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|11/13|c.1074G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|12/13|c.1074G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|10/13|c.1074G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|6/13|c.1074G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|9/13|c.1074G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000406733|protein_coding|11/13|c.1074G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000406733|protein_coding|10/13|c.1074G>A||||||,A|3_prime_UTR_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|10/12|n.*430G>A|||||145742|,A|3_prime_UTR_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|12/14|n.*102G>A|||||123650|,A|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|10/12|n.*430G>A||||||,A|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|12/14|n.*102G>A|||||| 22 47432995 . C T . . ANN=T|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|11/13|c.1230C>T|p.His410His|1396/3787|1230/1554|410/517||,T|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|10/12|c.1053C>T|p.His351His|1168/1949|1053/1377|351/458||,T|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|9/11|c.996C>T|p.His332His|1102/1886|996/1320|332/439||,T|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|11/13|c.1089C>T|p.His363His|1477/2267|1089/1413|363/470||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|7/13|c.1230C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|8/13|c.1230C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|5/13|c.1230C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|11/13|c.1230C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|12/13|c.1230C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|10/13|c.1230C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|6/13|c.1230C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|9/13|c.1230C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|3/11|c.996C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|9/11|c.996C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|10/11|c.996C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|8/11|c.996C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|4/11|c.996C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|5/11|c.996C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|6/11|c.996C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|7/11|c.996C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|7/13|c.1089C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|8/13|c.1089C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|5/13|c.1089C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|11/13|c.1089C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|12/13|c.1089C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|10/13|c.1089C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|6/13|c.1089C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|9/13|c.1089C>T||||||,T|3_prime_UTR_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|10/12|n.*445C>T|||||145757|,T|3_prime_UTR_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|12/14|n.*117C>T|||||123665|,T|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|10/12|n.*445C>T||||||,T|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|12/14|n.*117C>T|||||| 22 47433018 . C G . . ANN=G|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|11/13|c.1253C>G|p.Ala418Gly|1419/3787|1253/1554|418/517||,G|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|10/12|c.1076C>G|p.Ala359Gly|1191/1949|1076/1377|359/458||,G|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|9/11|c.1019C>G|p.Ala340Gly|1125/1886|1019/1320|340/439||,G|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|11/13|c.1112C>G|p.Ala371Gly|1500/2267|1112/1413|371/470||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|7/13|c.1253C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|8/13|c.1253C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|5/13|c.1253C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|11/13|c.1253C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|12/13|c.1253C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|10/13|c.1253C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|6/13|c.1253C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|9/13|c.1253C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000337137|protein_coding|11/13|c.1253C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|3/11|c.1019C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|9/11|c.1019C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|10/11|c.1019C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|8/11|c.1019C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|4/11|c.1019C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|5/11|c.1019C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|6/11|c.1019C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|7/11|c.1019C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000355704|protein_coding|9/11|c.1019C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|7/13|c.1112C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|8/13|c.1112C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|5/13|c.1112C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|11/13|c.1112C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|12/13|c.1112C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|10/13|c.1112C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|6/13|c.1112C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|9/13|c.1112C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000406733|protein_coding|11/13|c.1112C>G||||||,G|3_prime_UTR_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|10/12|n.*468C>G|||||145780|,G|3_prime_UTR_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|12/14|n.*140C>G|||||123688|,G|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|10/12|n.*468C>G||||||,G|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|12/14|n.*140C>G|||||| 22 47433034 . C T . . ANN=T|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|11/13|c.1269C>T|p.Asn423Asn|1435/3787|1269/1554|423/517||,T|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|10/12|c.1092C>T|p.Asn364Asn|1207/1949|1092/1377|364/458||,T|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|9/11|c.1035C>T|p.Asn345Asn|1141/1886|1035/1320|345/439||,T|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|11/13|c.1128C>T|p.Asn376Asn|1516/2267|1128/1413|376/470||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|7/13|c.1269C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|8/13|c.1269C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|5/13|c.1269C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|11/13|c.1269C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|12/13|c.1269C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|10/13|c.1269C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|6/13|c.1269C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|9/13|c.1269C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000337137|protein_coding|11/13|c.1269C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|3/11|c.1035C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|9/11|c.1035C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|10/11|c.1035C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|8/11|c.1035C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|4/11|c.1035C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|5/11|c.1035C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|6/11|c.1035C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|7/11|c.1035C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000355704|protein_coding|9/11|c.1035C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|7/13|c.1128C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|8/13|c.1128C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|5/13|c.1128C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|11/13|c.1128C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|12/13|c.1128C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|10/13|c.1128C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|6/13|c.1128C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|9/13|c.1128C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000406733|protein_coding|11/13|c.1128C>T||||||,T|3_prime_UTR_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|10/12|n.*484C>T|||||145796|,T|3_prime_UTR_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|12/14|n.*156C>T|||||123704|,T|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|10/12|n.*484C>T||||||,T|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|12/14|n.*156C>T|||||| 22 47433062 . C T . . ANN=T|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|11/13|c.1297C>T|p.Arg433Cys|1463/3787|1297/1554|433/517||,T|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|10/12|c.1120C>T|p.Arg374Cys|1235/1949|1120/1377|374/458||,T|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|9/11|c.1063C>T|p.Arg355Cys|1169/1886|1063/1320|355/439||,T|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|11/13|c.1156C>T|p.Arg386Cys|1544/2267|1156/1413|386/470||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|7/13|c.1297C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|8/13|c.1297C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|5/13|c.1297C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|11/13|c.1297C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|12/13|c.1297C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|10/13|c.1297C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|6/13|c.1297C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|9/13|c.1297C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000337137|protein_coding|11/13|c.1297C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|3/11|c.1063C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|9/11|c.1063C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|10/11|c.1063C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|8/11|c.1063C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|4/11|c.1063C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|5/11|c.1063C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|6/11|c.1063C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|7/11|c.1063C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000355704|protein_coding|9/11|c.1063C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|7/13|c.1156C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|8/13|c.1156C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|5/13|c.1156C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|11/13|c.1156C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|12/13|c.1156C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|10/13|c.1156C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|6/13|c.1156C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|9/13|c.1156C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000406733|protein_coding|11/13|c.1156C>T||||||,T|3_prime_UTR_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|10/12|n.*512C>T|||||145824|,T|3_prime_UTR_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|12/14|n.*184C>T|||||123732|,T|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|10/12|n.*512C>T||||||,T|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|12/14|n.*184C>T|||||| 22 47433116 . C T . . ANN=T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|7/13|c.1329+22C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|8/13|c.1329+22C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|5/13|c.1329+22C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|11/13|c.1329+22C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|12/13|c.1329+22C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|10/13|c.1329+22C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|6/13|c.1329+22C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|9/13|c.1329+22C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|3/11|c.1095+22C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|9/11|c.1095+22C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|10/11|c.1095+22C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|8/11|c.1095+22C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|4/11|c.1095+22C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|5/11|c.1095+22C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|6/11|c.1095+22C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|7/11|c.1095+22C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|7/13|c.1188+22C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|8/13|c.1188+22C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|5/13|c.1188+22C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|11/13|c.1188+22C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|12/13|c.1188+22C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|10/13|c.1188+22C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|6/13|c.1188+22C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|9/13|c.1188+22C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|11/12|c.1329+22C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|10/11|c.1152+22C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|9/10|c.1095+22C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|10/11|n.*544+22C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|12/13|n.*216+22C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|11/12|c.1188+22C>T|||||| 22 47433122 . T C . . ANN=C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|7/13|c.1329+28T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|8/13|c.1329+28T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|5/13|c.1329+28T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|11/13|c.1329+28T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|12/13|c.1329+28T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|10/13|c.1329+28T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|6/13|c.1329+28T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|9/13|c.1329+28T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|3/11|c.1095+28T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|9/11|c.1095+28T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|10/11|c.1095+28T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|8/11|c.1095+28T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|4/11|c.1095+28T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|5/11|c.1095+28T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|6/11|c.1095+28T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|7/11|c.1095+28T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|7/13|c.1188+28T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|8/13|c.1188+28T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|5/13|c.1188+28T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|11/13|c.1188+28T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|12/13|c.1188+28T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|10/13|c.1188+28T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|6/13|c.1188+28T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|9/13|c.1188+28T>C||||||,C|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|11/12|c.1329+28T>C||||||,C|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|10/11|c.1152+28T>C||||||,C|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|9/10|c.1095+28T>C||||||,C|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|10/11|n.*544+28T>C||||||,C|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|12/13|n.*216+28T>C||||||,C|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|11/12|c.1188+28T>C|||||| 22 47433140 . G A . . ANN=A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|7/13|c.1329+46G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|8/13|c.1329+46G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|5/13|c.1329+46G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|11/13|c.1329+46G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|12/13|c.1329+46G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|10/13|c.1329+46G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|6/13|c.1329+46G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|9/13|c.1329+46G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|3/11|c.1095+46G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|9/11|c.1095+46G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|10/11|c.1095+46G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|8/11|c.1095+46G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|4/11|c.1095+46G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|5/11|c.1095+46G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|6/11|c.1095+46G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|7/11|c.1095+46G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|7/13|c.1188+46G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|8/13|c.1188+46G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|5/13|c.1188+46G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|11/13|c.1188+46G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|12/13|c.1188+46G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|10/13|c.1188+46G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|6/13|c.1188+46G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|9/13|c.1188+46G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|11/12|c.1329+46G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|10/11|c.1152+46G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|9/10|c.1095+46G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|10/11|n.*544+46G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|12/13|n.*216+46G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|11/12|c.1188+46G>A|||||| 22 47507365 . G A . . ANN=A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|7/13|c.1330-39G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|8/13|c.1330-39G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|5/13|c.1330-39G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|11/13|c.1330-39G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|12/13|c.1330-39G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|10/13|c.1330-39G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|6/13|c.1330-39G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|9/13|c.1330-39G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|3/11|c.1096-39G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|9/11|c.1096-39G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|10/11|c.1096-39G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|8/11|c.1096-39G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|4/11|c.1096-39G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|5/11|c.1096-39G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|6/11|c.1096-39G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|7/11|c.1096-39G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|7/13|c.1189-39G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|8/13|c.1189-39G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|5/13|c.1189-39G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|11/13|c.1189-39G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|12/13|c.1189-39G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|10/13|c.1189-39G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|6/13|c.1189-39G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|9/13|c.1189-39G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|11/12|c.1330-39G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|10/11|c.1153-39G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|9/10|c.1096-39G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|10/11|n.*545-39G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|12/13|n.*217-39G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|11/12|c.1189-39G>A|||||| 22 47507512 . C A . . ANN=A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000337137|protein_coding|13/13|c.1425+13C>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000337137|protein_coding|12/13|c.1425+13C>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000355704|protein_coding|11/11|c.1191+13C>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000355704|protein_coding|10/11|c.1191+13C>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000406733|protein_coding|12/13|c.1284+13C>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000406733|protein_coding|13/13|c.1284+13C>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|12/12|c.1425+13C>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|11/11|c.1248+13C>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|10/10|c.1191+13C>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|11/11|n.*640+13C>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|13/13|n.*312+13C>A||||||,A|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|12/12|c.1284+13C>A|||||| 22 47507519 . A G . . ANN=G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000337137|protein_coding|13/13|c.1425+20A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000337137|protein_coding|12/13|c.1425+20A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000355704|protein_coding|11/11|c.1191+20A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000355704|protein_coding|10/11|c.1191+20A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000406733|protein_coding|12/13|c.1284+20A>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000406733|protein_coding|13/13|c.1284+20A>G||||||,G|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|12/12|c.1425+20A>G||||||,G|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|11/11|c.1248+20A>G||||||,G|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|10/10|c.1191+20A>G||||||,G|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|11/11|n.*640+20A>G||||||,G|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|13/13|n.*312+20A>G||||||,G|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|12/12|c.1284+20A>G|||||| 22 47569097 . C T . . ANN=T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000337137|protein_coding|13/13|c.1426-44C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000337137|protein_coding|12/13|c.1426-44C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000355704|protein_coding|11/11|c.1192-44C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000355704|protein_coding|10/11|c.1192-44C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000406733|protein_coding|12/13|c.1285-44C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000406733|protein_coding|13/13|c.1285-44C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|12/12|c.1426-44C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|11/11|c.1249-44C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|10/10|c.1192-44C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|11/11|n.*641-44C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|13/13|n.*313-44C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|12/12|c.1285-44C>T|||||| 22 47569123 . T C . . ANN=C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000337137|protein_coding|13/13|c.1426-18T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000337137|protein_coding|12/13|c.1426-18T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000355704|protein_coding|11/11|c.1192-18T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000355704|protein_coding|10/11|c.1192-18T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000406733|protein_coding|12/13|c.1285-18T>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000406733|protein_coding|13/13|c.1285-18T>C||||||,C|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|12/12|c.1426-18T>C||||||,C|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|11/11|c.1249-18T>C||||||,C|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|10/10|c.1192-18T>C||||||,C|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|11/11|n.*641-18T>C||||||,C|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|13/13|n.*313-18T>C||||||,C|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|12/12|c.1285-18T>C|||||| 22 47569209 . G C . . ANN=C|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|13/13|c.1494G>C|p.Leu498Leu|1660/3787|1494/1554|498/517||,C|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|12/12|c.1317G>C|p.Leu439Leu|1432/1949|1317/1377|439/458||,C|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|11/11|c.1260G>C|p.Leu420Leu|1366/1886|1260/1320|420/439||,C|synonymous_variant|LOW|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|13/13|c.1353G>C|p.Leu451Leu|1741/2267|1353/1413|451/470||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000337137|protein_coding|13/13|c.1494G>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000355704|protein_coding|11/11|c.1260G>C||||||,C|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000406733|protein_coding|13/13|c.1353G>C||||||,C|3_prime_UTR_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|12/12|n.*709G>C|||||281971|,C|3_prime_UTR_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|14/14|n.*381G>C|||||259879|,C|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|12/12|n.*709G>C||||||,C|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|14/14|n.*381G>C|||||| 22 47569278 . C A . . ANN=A|3_prime_UTR_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|13/13|c.*9C>A|||||9|,A|3_prime_UTR_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|12/12|c.*9C>A|||||9|,A|3_prime_UTR_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|11/11|c.*9C>A|||||9|,A|3_prime_UTR_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|12/12|n.*778C>A|||||282040|,A|3_prime_UTR_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|14/14|n.*450C>A|||||259948|,A|3_prime_UTR_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|13/13|c.*9C>A|||||9|,A|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|12/12|n.*778C>A||||||,A|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|14/14|n.*450C>A|||||| 22 47569292 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|13/13|c.*23C>T|||||23|,T|3_prime_UTR_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|12/12|c.*23C>T|||||23|,T|3_prime_UTR_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|11/11|c.*23C>T|||||23|,T|3_prime_UTR_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|12/12|n.*792C>T|||||282054|,T|3_prime_UTR_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|14/14|n.*464C>T|||||259962|,T|3_prime_UTR_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|13/13|c.*23C>T|||||23|,T|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|12/12|n.*792C>T||||||,T|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|14/14|n.*464C>T|||||| 22 47569300 . TC T . . ANN=|3_prime_UTR_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|13/13|c.*34delC|||||34|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|12/12|c.*34delC|||||34|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|11/11|c.*34delC|||||34|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|12/12|n.*803delC|||||282065|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|14/14|n.*475delC|||||259973|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|13/13|c.*34delC|||||34|INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|12/12|n.*803delC||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|14/14|n.*475delC||||||INFO_REALIGN_3_PRIME 22 47569308 . G C . . ANN=C|3_prime_UTR_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|13/13|c.*39G>C|||||39|,C|3_prime_UTR_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|12/12|c.*39G>C|||||39|,C|3_prime_UTR_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|11/11|c.*39G>C|||||39|,C|3_prime_UTR_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|12/12|n.*808G>C|||||282070|,C|3_prime_UTR_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|14/14|n.*480G>C|||||259978|,C|3_prime_UTR_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|13/13|c.*39G>C|||||39|,C|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|12/12|n.*808G>C||||||,C|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|14/14|n.*480G>C|||||| 22 48972321 . T C . . ANN=C|missense_variant|MODERATE|FAM19A5|ENSG00000219438|transcript|ENST00000358295|protein_coding|1/4|c.29T>C|p.Leu10Pro|204/2638|29/378|10/125||,C|intron_variant|MODIFIER|FAM19A5|ENSG00000219438|transcript|ENST00000336769|protein_coding|1/3|c.113-70088T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|FAM19A5|ENSG00000219438|transcript|ENST00000402357|protein_coding|1/3|c.113-70088T>C||||||,C|non_coding_exon_variant|MODIFIER|FAM19A5|ENSG00000219438|transcript|ENST00000473898|processed_transcript|1/3|n.57T>C|||||| 22 48972352 . C T . . ANN=T|synonymous_variant|LOW|FAM19A5|ENSG00000219438|transcript|ENST00000358295|protein_coding|1/4|c.60C>T|p.Val20Val|235/2638|60/378|20/125||,T|intron_variant|MODIFIER|FAM19A5|ENSG00000219438|transcript|ENST00000336769|protein_coding|1/3|c.113-70057C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|FAM19A5|ENSG00000219438|transcript|ENST00000402357|protein_coding|1/3|c.113-70057C>T||||||,T|non_coding_exon_variant|MODIFIER|FAM19A5|ENSG00000219438|transcript|ENST00000473898|processed_transcript|1/3|n.88C>T|||||| 22 49042380 . C T . . ANN=T|intron_variant|MODIFIER|FAM19A5|ENSG00000219438|transcript|ENST00000336769|protein_coding|1/3|c.113-29C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|FAM19A5|ENSG00000219438|transcript|ENST00000402357|protein_coding|1/3|c.113-29C>T||||||,T|intron_variant|MODIFIER|FAM19A5|ENSG00000219438|transcript|ENST00000358295|protein_coding|1/3|c.92-29C>T||||||,T|intron_variant|MODIFIER|FAM19A5|ENSG00000219438|transcript|ENST00000473898|processed_transcript|1/2|n.120-61149C>T|||||| 22 49042476 . G A . . ANN=A|synonymous_variant|LOW|FAM19A5|ENSG00000219438|transcript|ENST00000336769|protein_coding|2/4|c.180G>A|p.Thr60Thr|181/546|180/545|60/180||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|FAM19A5|ENSG00000219438|transcript|ENST00000402357|protein_coding|2/4|c.180G>A|p.Thr60Thr|313/1508|180/399|60/132||,A|synonymous_variant|LOW|FAM19A5|ENSG00000219438|transcript|ENST00000358295|protein_coding|2/4|c.159G>A|p.Thr53Thr|334/2638|159/378|53/125||,A|intron_variant|MODIFIER|FAM19A5|ENSG00000219438|transcript|ENST00000473898|processed_transcript|1/2|n.120-61053G>A|||||| 22 49042491 . C T . . ANN=T|synonymous_variant|LOW|FAM19A5|ENSG00000219438|transcript|ENST00000336769|protein_coding|2/4|c.195C>T|p.Thr65Thr|196/546|195/545|65/180||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|FAM19A5|ENSG00000219438|transcript|ENST00000402357|protein_coding|2/4|c.195C>T|p.Thr65Thr|328/1508|195/399|65/132||,T|synonymous_variant|LOW|FAM19A5|ENSG00000219438|transcript|ENST00000358295|protein_coding|2/4|c.174C>T|p.Thr58Thr|349/2638|174/378|58/125||,T|intron_variant|MODIFIER|FAM19A5|ENSG00000219438|transcript|ENST00000473898|processed_transcript|1/2|n.120-61038C>T|||||| 22 49103499 . C T . . ANN=T|intron_variant|MODIFIER|FAM19A5|ENSG00000219438|transcript|ENST00000336769|protein_coding|2/3|c.263-30C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|FAM19A5|ENSG00000219438|transcript|ENST00000402357|protein_coding|2/3|c.263-30C>T||||||,T|intron_variant|MODIFIER|FAM19A5|ENSG00000219438|transcript|ENST00000358295|protein_coding|2/3|c.242-30C>T||||||,T|intron_variant|MODIFIER|FAM19A5|ENSG00000219438|transcript|ENST00000473898|processed_transcript|1/2|n.120-30C>T||||||,T|intron_variant|MODIFIER|FAM19A5|ENSG00000219438|transcript|ENST00000406880|protein_coding|1/2|c.26-30C>T|||||| 22 49103591 . G A . . ANN=A|missense_variant|MODERATE|FAM19A5|ENSG00000219438|transcript|ENST00000336769|protein_coding|3/4|c.325G>A|p.Asp109Asn|326/546|325/545|109/180||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|FAM19A5|ENSG00000219438|transcript|ENST00000402357|protein_coding|3/4|c.325G>A|p.Asp109Asn|458/1508|325/399|109/132||,A|missense_variant|MODERATE|FAM19A5|ENSG00000219438|transcript|ENST00000358295|protein_coding|3/4|c.304G>A|p.Asp102Asn|479/2638|304/378|102/125||,A|missense_variant|MODERATE|FAM19A5|ENSG00000219438|transcript|ENST00000406880|protein_coding|2/3|c.88G>A|p.Asp30Asn|198/833|88/162|30/53||,A|non_coding_exon_variant|MODIFIER|FAM19A5|ENSG00000219438|transcript|ENST00000473898|processed_transcript|2/3|n.182G>A|||||| 22 49103626 . G T . . ANN=T|synonymous_variant|LOW|FAM19A5|ENSG00000219438|transcript|ENST00000336769|protein_coding|3/4|c.360G>T|p.Thr120Thr|361/546|360/545|120/180||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|FAM19A5|ENSG00000219438|transcript|ENST00000402357|protein_coding|3/4|c.360G>T|p.Thr120Thr|493/1508|360/399|120/132||,T|synonymous_variant|LOW|FAM19A5|ENSG00000219438|transcript|ENST00000358295|protein_coding|3/4|c.339G>T|p.Thr113Thr|514/2638|339/378|113/125||,T|synonymous_variant|LOW|FAM19A5|ENSG00000219438|transcript|ENST00000406880|protein_coding|2/3|c.123G>T|p.Thr41Thr|233/833|123/162|41/53||,T|non_coding_exon_variant|MODIFIER|FAM19A5|ENSG00000219438|transcript|ENST00000473898|processed_transcript|2/3|n.217G>T|||||| 22 49103628 . A G . . ANN=G|missense_variant|MODERATE|FAM19A5|ENSG00000219438|transcript|ENST00000336769|protein_coding|3/4|c.362A>G|p.Gln121Arg|363/546|362/545|121/180||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|FAM19A5|ENSG00000219438|transcript|ENST00000402357|protein_coding|3/4|c.362A>G|p.Gln121Arg|495/1508|362/399|121/132||,G|missense_variant|MODERATE|FAM19A5|ENSG00000219438|transcript|ENST00000358295|protein_coding|3/4|c.341A>G|p.Gln114Arg|516/2638|341/378|114/125||,G|missense_variant|MODERATE|FAM19A5|ENSG00000219438|transcript|ENST00000406880|protein_coding|2/3|c.125A>G|p.Gln42Arg|235/833|125/162|42/53||,G|non_coding_exon_variant|MODIFIER|FAM19A5|ENSG00000219438|transcript|ENST00000473898|processed_transcript|2/3|n.219A>G|||||| 22 49103660 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|FAM19A5|ENSG00000219438|transcript|ENST00000336769|protein_coding|3/3|c.390+4T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|splice_region_variant&intron_variant|LOW|FAM19A5|ENSG00000219438|transcript|ENST00000402357|protein_coding|3/3|c.390+4T>C||||||,C|splice_region_variant&intron_variant|LOW|FAM19A5|ENSG00000219438|transcript|ENST00000358295|protein_coding|3/3|c.369+4T>C||||||,C|splice_region_variant&intron_variant|LOW|FAM19A5|ENSG00000219438|transcript|ENST00000473898|processed_transcript|2/2|n.247+4T>C||||||,C|splice_region_variant&intron_variant|LOW|FAM19A5|ENSG00000219438|transcript|ENST00000406880|protein_coding|2/2|c.153+4T>C|||||| 22 49103669 . C T . . ANN=T|intron_variant|MODIFIER|FAM19A5|ENSG00000219438|transcript|ENST00000336769|protein_coding|3/3|c.390+13C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|FAM19A5|ENSG00000219438|transcript|ENST00000402357|protein_coding|3/3|c.390+13C>T||||||,T|intron_variant|MODIFIER|FAM19A5|ENSG00000219438|transcript|ENST00000358295|protein_coding|3/3|c.369+13C>T||||||,T|intron_variant|MODIFIER|FAM19A5|ENSG00000219438|transcript|ENST00000473898|processed_transcript|2/2|n.247+13C>T||||||,T|intron_variant|MODIFIER|FAM19A5|ENSG00000219438|transcript|ENST00000406880|protein_coding|2/2|c.153+13C>T|||||| 22 49103670 . G A . . ANN=A|intron_variant|MODIFIER|FAM19A5|ENSG00000219438|transcript|ENST00000336769|protein_coding|3/3|c.390+14G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|FAM19A5|ENSG00000219438|transcript|ENST00000402357|protein_coding|3/3|c.390+14G>A||||||,A|intron_variant|MODIFIER|FAM19A5|ENSG00000219438|transcript|ENST00000358295|protein_coding|3/3|c.369+14G>A||||||,A|intron_variant|MODIFIER|FAM19A5|ENSG00000219438|transcript|ENST00000473898|processed_transcript|2/2|n.247+14G>A||||||,A|intron_variant|MODIFIER|FAM19A5|ENSG00000219438|transcript|ENST00000406880|protein_coding|2/2|c.153+14G>A|||||| 22 50167902 . G A . . ANN=A|sequence_feature|MODERATE|BRD1|ENSG00000100425|amino_acid_modification:Phosphoserine|ENST00000404760|protein_coding|13/13|c.3549C>T||||||,A|sequence_feature|MODERATE|BRD1|ENSG00000100425|amino_acid_modification:Phosphoserine|ENST00000404034|protein_coding|13/13|c.3156C>T||||||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|13/13|c.3549C>T|p.Ser1183Ser|3579/4550|3549/3570|1183/1189||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|12/12|c.3156C>T|p.Ser1052Ser|3643/4614|3156/3177|1052/1058||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|13/13|c.3156C>T|p.Ser1052Ser|3341/4312|3156/3177|1052/1058||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|13/13|c.2220C>T|p.Ser740Ser|2287/2723|2220/2241|740/746||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|14/14|c.2334C>T|p.Ser778Ser|2752/3179|2334/2355|778/784||,A|3_prime_UTR_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|12/12|n.*550C>T|||||2902|,A|3_prime_UTR_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|13/13|c.*479C>T|||||2831|,A|downstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000479985|retained_intron||n.*551C>T|||||1007|,A|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|12/12|n.*550C>T|||||| 22 50167923 . G A . . ANN=A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|13/13|c.3528C>T|p.Arg1176Arg|3558/4550|3528/3570|1176/1189||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|12/12|c.3135C>T|p.Arg1045Arg|3622/4614|3135/3177|1045/1058||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|13/13|c.3135C>T|p.Arg1045Arg|3320/4312|3135/3177|1045/1058||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|13/13|c.2199C>T|p.Arg733Arg|2266/2723|2199/2241|733/746||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|14/14|c.2313C>T|p.Arg771Arg|2731/3179|2313/2355|771/784||,A|sequence_feature|LOW|BRD1|ENSG00000100425|helix|ENST00000404760|protein_coding|13/13|c.3528C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|helix|ENST00000404034|protein_coding|13/13|c.3135C>T||||||,A|3_prime_UTR_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|12/12|n.*529C>T|||||2881|,A|3_prime_UTR_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|13/13|c.*458C>T|||||2810|,A|downstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000479985|retained_intron||n.*551C>T|||||986|,A|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|12/12|n.*529C>T|||||| 22 50167960 . C T . . ANN=T|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|13/13|c.3491G>A|p.Arg1164Gln|3521/4550|3491/3570|1164/1189||,T|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|12/12|c.3098G>A|p.Arg1033Gln|3585/4614|3098/3177|1033/1058||,T|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|13/13|c.3098G>A|p.Arg1033Gln|3283/4312|3098/3177|1033/1058||,T|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|13/13|c.2162G>A|p.Arg721Gln|2229/2723|2162/2241|721/746||,T|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|14/14|c.2276G>A|p.Arg759Gln|2694/3179|2276/2355|759/784||,T|sequence_feature|LOW|BRD1|ENSG00000100425|helix|ENST00000404760|protein_coding|13/13|c.3491G>A||||||,T|sequence_feature|LOW|BRD1|ENSG00000100425|helix|ENST00000404034|protein_coding|13/13|c.3098G>A||||||,T|3_prime_UTR_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|12/12|n.*492G>A|||||2844|,T|3_prime_UTR_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|13/13|c.*421G>A|||||2773|,T|downstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000479985|retained_intron||n.*551G>A|||||949|,T|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|12/12|n.*492G>A|||||| 22 50168042 . T C . . ANN=C|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|13/13|c.3409A>G|p.Met1137Val|3439/4550|3409/3570|1137/1189||,C|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|12/12|c.3016A>G|p.Met1006Val|3503/4614|3016/3177|1006/1058||,C|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|13/13|c.3016A>G|p.Met1006Val|3201/4312|3016/3177|1006/1058||,C|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|13/13|c.2080A>G|p.Met694Val|2147/2723|2080/2241|694/746||,C|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|14/14|c.2194A>G|p.Met732Val|2612/3179|2194/2355|732/784||,C|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404760|protein_coding|13/13|c.3409A>G||||||,C|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404760|protein_coding|11/13|c.3409A>G||||||,C|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404760|protein_coding|12/13|c.3409A>G||||||,C|sequence_feature|LOW|BRD1|ENSG00000100425|beta_strand|ENST00000404760|protein_coding|13/13|c.3409A>G||||||,C|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404034|protein_coding|13/13|c.3016A>G||||||,C|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404034|protein_coding|11/13|c.3016A>G||||||,C|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404034|protein_coding|12/13|c.3016A>G||||||,C|sequence_feature|LOW|BRD1|ENSG00000100425|beta_strand|ENST00000404034|protein_coding|13/13|c.3016A>G||||||,C|3_prime_UTR_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|12/12|n.*410A>G|||||2762|,C|3_prime_UTR_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|13/13|c.*339A>G|||||2691|,C|downstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000479985|retained_intron||n.*551A>G|||||867|,C|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|12/12|n.*410A>G|||||| 22 50169205 . G A . . ANN=A|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404760|protein_coding|13/13|c.3386+34C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404760|protein_coding|11/13|c.3386+34C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404760|protein_coding|12/13|c.3386+34C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|beta_strand|ENST00000404760|protein_coding|13/13|c.3386+34C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|beta_strand|ENST00000404760|protein_coding|12/13|c.3386+34C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404034|protein_coding|13/13|c.2993+34C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404034|protein_coding|11/13|c.2993+34C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404034|protein_coding|12/13|c.2993+34C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|beta_strand|ENST00000404034|protein_coding|13/13|c.2993+34C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|beta_strand|ENST00000404034|protein_coding|12/13|c.2993+34C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|12/12|c.3386+34C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|11/11|n.*387+34C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|11/11|c.2993+34C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|12/12|c.2993+34C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|12/12|c.*316+34C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|12/12|c.2057+34C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|13/13|c.2171+34C>T||||||,A|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000479985|retained_intron|2/2|n.255C>T|||||| 22 50169211 . C T . . ANN=T|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404760|protein_coding|13/13|c.3386+28G>A||||||,T|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404760|protein_coding|11/13|c.3386+28G>A||||||,T|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404760|protein_coding|12/13|c.3386+28G>A||||||,T|sequence_feature|LOW|BRD1|ENSG00000100425|beta_strand|ENST00000404760|protein_coding|13/13|c.3386+28G>A||||||,T|sequence_feature|LOW|BRD1|ENSG00000100425|beta_strand|ENST00000404760|protein_coding|12/13|c.3386+28G>A||||||,T|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404034|protein_coding|13/13|c.2993+28G>A||||||,T|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404034|protein_coding|11/13|c.2993+28G>A||||||,T|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404034|protein_coding|12/13|c.2993+28G>A||||||,T|sequence_feature|LOW|BRD1|ENSG00000100425|beta_strand|ENST00000404034|protein_coding|13/13|c.2993+28G>A||||||,T|sequence_feature|LOW|BRD1|ENSG00000100425|beta_strand|ENST00000404034|protein_coding|12/13|c.2993+28G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|12/12|c.3386+28G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|11/11|n.*387+28G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|11/11|c.2993+28G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|12/12|c.2993+28G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|12/12|c.*316+28G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|12/12|c.2057+28G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|13/13|c.2171+28G>A||||||,T|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000479985|retained_intron|2/2|n.249G>A|||||| 22 50169313 . C G . . ANN=G|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|12/13|c.3312G>C|p.Lys1104Asn|3342/4550|3312/3570|1104/1189||,G|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|11/12|c.2919G>C|p.Lys973Asn|3406/4614|2919/3177|973/1058||,G|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|12/13|c.2919G>C|p.Lys973Asn|3104/4312|2919/3177|973/1058||,G|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|12/13|c.1983G>C|p.Lys661Asn|2050/2723|1983/2241|661/746||,G|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|13/14|c.2097G>C|p.Lys699Asn|2515/3179|2097/2355|699/784||,G|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404760|protein_coding|13/13|c.3312G>C||||||,G|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404760|protein_coding|11/13|c.3312G>C||||||,G|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404760|protein_coding|12/13|c.3312G>C||||||,G|sequence_feature|LOW|BRD1|ENSG00000100425|helix|ENST00000404760|protein_coding|12/13|c.3312G>C||||||,G|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404034|protein_coding|13/13|c.2919G>C||||||,G|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404034|protein_coding|11/13|c.2919G>C||||||,G|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404034|protein_coding|12/13|c.2919G>C||||||,G|sequence_feature|LOW|BRD1|ENSG00000100425|helix|ENST00000404034|protein_coding|12/13|c.2919G>C||||||,G|3_prime_UTR_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|11/12|n.*313G>C|||||1491|,G|3_prime_UTR_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|12/13|c.*242G>C|||||1420|,G|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|11/12|n.*313G>C||||||,G|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000479985|retained_intron|2/2|n.147G>C|||||| 22 50169346 . G C . . ANN=C|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|12/13|c.3279C>G|p.Val1093Val|3309/4550|3279/3570|1093/1189||,C|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|11/12|c.2886C>G|p.Val962Val|3373/4614|2886/3177|962/1058||,C|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|12/13|c.2886C>G|p.Val962Val|3071/4312|2886/3177|962/1058||,C|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|12/13|c.1950C>G|p.Val650Val|2017/2723|1950/2241|650/746||,C|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|13/14|c.2064C>G|p.Val688Val|2482/3179|2064/2355|688/784||,C|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404760|protein_coding|13/13|c.3279C>G||||||,C|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404760|protein_coding|11/13|c.3279C>G||||||,C|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404760|protein_coding|12/13|c.3279C>G||||||,C|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404034|protein_coding|13/13|c.2886C>G||||||,C|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404034|protein_coding|11/13|c.2886C>G||||||,C|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404034|protein_coding|12/13|c.2886C>G||||||,C|3_prime_UTR_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|11/12|n.*280C>G|||||1458|,C|3_prime_UTR_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|12/13|c.*209C>G|||||1387|,C|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|11/12|n.*280C>G||||||,C|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000479985|retained_intron|2/2|n.114C>G|||||| 22 50169399 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|11/12|c.3232-6G>A||||||,T|splice_region_variant&intron_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|10/11|n.*233-6G>A||||||,T|splice_region_variant&intron_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|10/11|c.2839-6G>A||||||,T|splice_region_variant&intron_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|11/12|c.2839-6G>A||||||,T|splice_region_variant&intron_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|11/12|c.*162-6G>A||||||,T|splice_region_variant&intron_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|11/12|c.1903-6G>A||||||,T|splice_region_variant&intron_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|12/13|c.2017-6G>A||||||,T|splice_region_variant&intron_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000479985|retained_intron|1/1|n.67-6G>A||||||,T|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404760|protein_coding|13/13|c.3232-6G>A||||||,T|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404760|protein_coding|11/13|c.3232-6G>A||||||,T|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404760|protein_coding|12/13|c.3232-6G>A||||||,T|sequence_feature|LOW|BRD1|ENSG00000100425|beta_strand|ENST00000404760|protein_coding|11/13|c.3232-6G>A||||||,T|sequence_feature|LOW|BRD1|ENSG00000100425|beta_strand|ENST00000404760|protein_coding|12/13|c.3232-6G>A||||||,T|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404034|protein_coding|13/13|c.2839-6G>A||||||,T|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404034|protein_coding|11/13|c.2839-6G>A||||||,T|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404034|protein_coding|12/13|c.2839-6G>A||||||,T|sequence_feature|LOW|BRD1|ENSG00000100425|beta_strand|ENST00000404034|protein_coding|11/13|c.2839-6G>A||||||,T|sequence_feature|LOW|BRD1|ENSG00000100425|beta_strand|ENST00000404034|protein_coding|12/13|c.2839-6G>A|||||| 22 50169410 . C T . . ANN=T|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404760|protein_coding|13/13|c.3232-17G>A||||||,T|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404760|protein_coding|11/13|c.3232-17G>A||||||,T|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404760|protein_coding|12/13|c.3232-17G>A||||||,T|sequence_feature|LOW|BRD1|ENSG00000100425|beta_strand|ENST00000404760|protein_coding|11/13|c.3232-17G>A||||||,T|sequence_feature|LOW|BRD1|ENSG00000100425|beta_strand|ENST00000404760|protein_coding|12/13|c.3232-17G>A||||||,T|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404034|protein_coding|13/13|c.2839-17G>A||||||,T|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404034|protein_coding|11/13|c.2839-17G>A||||||,T|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404034|protein_coding|12/13|c.2839-17G>A||||||,T|sequence_feature|LOW|BRD1|ENSG00000100425|beta_strand|ENST00000404034|protein_coding|11/13|c.2839-17G>A||||||,T|sequence_feature|LOW|BRD1|ENSG00000100425|beta_strand|ENST00000404034|protein_coding|12/13|c.2839-17G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|11/12|c.3232-17G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|10/11|n.*233-17G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|10/11|c.2839-17G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|11/12|c.2839-17G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|11/12|c.*162-17G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|11/12|c.1903-17G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|12/13|c.2017-17G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000479985|retained_intron|1/1|n.67-17G>A|||||| 22 50169421 . T C . . ANN=C|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404760|protein_coding|13/13|c.3232-28A>G||||||,C|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404760|protein_coding|11/13|c.3232-28A>G||||||,C|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404760|protein_coding|12/13|c.3232-28A>G||||||,C|sequence_feature|LOW|BRD1|ENSG00000100425|beta_strand|ENST00000404760|protein_coding|11/13|c.3232-28A>G||||||,C|sequence_feature|LOW|BRD1|ENSG00000100425|beta_strand|ENST00000404760|protein_coding|12/13|c.3232-28A>G||||||,C|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404034|protein_coding|13/13|c.2839-28A>G||||||,C|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404034|protein_coding|11/13|c.2839-28A>G||||||,C|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404034|protein_coding|12/13|c.2839-28A>G||||||,C|sequence_feature|LOW|BRD1|ENSG00000100425|beta_strand|ENST00000404034|protein_coding|11/13|c.2839-28A>G||||||,C|sequence_feature|LOW|BRD1|ENSG00000100425|beta_strand|ENST00000404034|protein_coding|12/13|c.2839-28A>G||||||,C|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|11/12|c.3232-28A>G||||||,C|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|10/11|n.*233-28A>G||||||,C|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|10/11|c.2839-28A>G||||||,C|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|11/12|c.2839-28A>G||||||,C|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|11/12|c.*162-28A>G||||||,C|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|11/12|c.1903-28A>G||||||,C|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|12/13|c.2017-28A>G||||||,C|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000479985|retained_intron|1/1|n.67-28A>G|||||| 22 50169676 . G A . . ANN=A|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404760|protein_coding|13/13|c.3231+22C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404760|protein_coding|11/13|c.3231+22C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404760|protein_coding|12/13|c.3231+22C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|beta_strand|ENST00000404760|protein_coding|11/13|c.3231+22C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|beta_strand|ENST00000404760|protein_coding|12/13|c.3231+22C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404034|protein_coding|13/13|c.2838+22C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404034|protein_coding|11/13|c.2838+22C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404034|protein_coding|12/13|c.2838+22C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|beta_strand|ENST00000404034|protein_coding|11/13|c.2838+22C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|beta_strand|ENST00000404034|protein_coding|12/13|c.2838+22C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|11/12|c.3231+22C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|10/11|n.*232+22C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|10/11|c.2838+22C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|11/12|c.2838+22C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|11/12|c.*161+22C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|11/12|c.1902+22C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|12/13|c.2016+22C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000479985|retained_intron|1/1|n.66+22C>T|||||| 22 50169682 . C G . . ANN=G|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404760|protein_coding|13/13|c.3231+16G>C||||||,G|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404760|protein_coding|11/13|c.3231+16G>C||||||,G|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404760|protein_coding|12/13|c.3231+16G>C||||||,G|sequence_feature|LOW|BRD1|ENSG00000100425|beta_strand|ENST00000404760|protein_coding|11/13|c.3231+16G>C||||||,G|sequence_feature|LOW|BRD1|ENSG00000100425|beta_strand|ENST00000404760|protein_coding|12/13|c.3231+16G>C||||||,G|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404034|protein_coding|13/13|c.2838+16G>C||||||,G|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404034|protein_coding|11/13|c.2838+16G>C||||||,G|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404034|protein_coding|12/13|c.2838+16G>C||||||,G|sequence_feature|LOW|BRD1|ENSG00000100425|beta_strand|ENST00000404034|protein_coding|11/13|c.2838+16G>C||||||,G|sequence_feature|LOW|BRD1|ENSG00000100425|beta_strand|ENST00000404034|protein_coding|12/13|c.2838+16G>C||||||,G|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|11/12|c.3231+16G>C||||||,G|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|10/11|n.*232+16G>C||||||,G|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|10/11|c.2838+16G>C||||||,G|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|11/12|c.2838+16G>C||||||,G|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|11/12|c.*161+16G>C||||||,G|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|11/12|c.1902+16G>C||||||,G|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|12/13|c.2016+16G>C||||||,G|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000479985|retained_intron|1/1|n.66+16G>C|||||| 22 50169683 . G A . . ANN=A|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404760|protein_coding|13/13|c.3231+15C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404760|protein_coding|11/13|c.3231+15C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404760|protein_coding|12/13|c.3231+15C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|beta_strand|ENST00000404760|protein_coding|11/13|c.3231+15C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|beta_strand|ENST00000404760|protein_coding|12/13|c.3231+15C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404034|protein_coding|13/13|c.2838+15C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404034|protein_coding|11/13|c.2838+15C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404034|protein_coding|12/13|c.2838+15C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|beta_strand|ENST00000404034|protein_coding|11/13|c.2838+15C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|beta_strand|ENST00000404034|protein_coding|12/13|c.2838+15C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|11/12|c.3231+15C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|10/11|n.*232+15C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|10/11|c.2838+15C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|11/12|c.2838+15C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|11/12|c.*161+15C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|11/12|c.1902+15C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|12/13|c.2016+15C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000479985|retained_intron|1/1|n.66+15C>T|||||| 22 50169691 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|11/12|c.3231+7A>G||||||,C|splice_region_variant&intron_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|10/11|n.*232+7A>G||||||,C|splice_region_variant&intron_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|10/11|c.2838+7A>G||||||,C|splice_region_variant&intron_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|11/12|c.2838+7A>G||||||,C|splice_region_variant&intron_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|11/12|c.*161+7A>G||||||,C|splice_region_variant&intron_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|11/12|c.1902+7A>G||||||,C|splice_region_variant&intron_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|12/13|c.2016+7A>G||||||,C|splice_region_variant&intron_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000479985|retained_intron|1/1|n.66+7A>G||||||,C|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404760|protein_coding|13/13|c.3231+7A>G||||||,C|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404760|protein_coding|11/13|c.3231+7A>G||||||,C|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404760|protein_coding|12/13|c.3231+7A>G||||||,C|sequence_feature|LOW|BRD1|ENSG00000100425|beta_strand|ENST00000404760|protein_coding|11/13|c.3231+7A>G||||||,C|sequence_feature|LOW|BRD1|ENSG00000100425|beta_strand|ENST00000404760|protein_coding|12/13|c.3231+7A>G||||||,C|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404034|protein_coding|13/13|c.2838+7A>G||||||,C|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404034|protein_coding|11/13|c.2838+7A>G||||||,C|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404034|protein_coding|12/13|c.2838+7A>G||||||,C|sequence_feature|LOW|BRD1|ENSG00000100425|beta_strand|ENST00000404034|protein_coding|11/13|c.2838+7A>G||||||,C|sequence_feature|LOW|BRD1|ENSG00000100425|beta_strand|ENST00000404034|protein_coding|12/13|c.2838+7A>G|||||| 22 50169714 . G A . . ANN=A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|11/13|c.3215C>T|p.Pro1072Leu|3245/4550|3215/3570|1072/1189||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|10/12|c.2822C>T|p.Pro941Leu|3309/4614|2822/3177|941/1058||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|11/13|c.2822C>T|p.Pro941Leu|3007/4312|2822/3177|941/1058||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|11/13|c.1886C>T|p.Pro629Leu|1953/2723|1886/2241|629/746||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|12/14|c.2000C>T|p.Pro667Leu|2418/3179|2000/2355|667/784||,A|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404760|protein_coding|13/13|c.3215C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404760|protein_coding|11/13|c.3215C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404760|protein_coding|12/13|c.3215C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404034|protein_coding|13/13|c.2822C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404034|protein_coding|11/13|c.2822C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404034|protein_coding|12/13|c.2822C>T||||||,A|3_prime_UTR_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|10/12|n.*216C>T|||||1090|,A|3_prime_UTR_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|11/13|c.*145C>T|||||1019|,A|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|10/12|n.*216C>T||||||,A|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000479985|retained_intron|1/2|n.50C>T|||||| 22 50169722 . G A . . ANN=A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|11/13|c.3207C>T|p.Ser1069Ser|3237/4550|3207/3570|1069/1189||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|10/12|c.2814C>T|p.Ser938Ser|3301/4614|2814/3177|938/1058||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|11/13|c.2814C>T|p.Ser938Ser|2999/4312|2814/3177|938/1058||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|11/13|c.1878C>T|p.Ser626Ser|1945/2723|1878/2241|626/746||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|12/14|c.1992C>T|p.Ser664Ser|2410/3179|1992/2355|664/784||,A|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404760|protein_coding|13/13|c.3207C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404760|protein_coding|11/13|c.3207C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404760|protein_coding|12/13|c.3207C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404034|protein_coding|13/13|c.2814C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404034|protein_coding|11/13|c.2814C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404034|protein_coding|12/13|c.2814C>T||||||,A|3_prime_UTR_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|10/12|n.*208C>T|||||1082|,A|3_prime_UTR_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|11/13|c.*137C>T|||||1011|,A|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|10/12|n.*208C>T||||||,A|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000479985|retained_intron|1/2|n.42C>T|||||| 22 50169770 . G A . . ANN=A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|11/13|c.3159C>T|p.Ala1053Ala|3189/4550|3159/3570|1053/1189||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|10/12|c.2766C>T|p.Ala922Ala|3253/4614|2766/3177|922/1058||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|11/13|c.2766C>T|p.Ala922Ala|2951/4312|2766/3177|922/1058||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|11/13|c.1830C>T|p.Ala610Ala|1897/2723|1830/2241|610/746||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|12/14|c.1944C>T|p.Ala648Ala|2362/3179|1944/2355|648/784||,A|3_prime_UTR_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|10/12|n.*160C>T|||||1034|,A|3_prime_UTR_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|11/13|c.*89C>T|||||963|,A|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000479985|retained_intron||n.-1C>T|||||7|,A|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|10/12|n.*160C>T|||||| 22 50169851 . C T . . ANN=T|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000479985|retained_intron||n.-1G>A|||||88|,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|10/12|c.3122-44G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|9/11|n.*123-44G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|9/11|c.2729-44G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|10/12|c.2729-44G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|10/12|c.*52-44G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|10/12|c.1793-44G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|11/13|c.1907-44G>A|||||| 22 50169852 . G A . . ANN=A|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000479985|retained_intron||n.-1C>T|||||89|,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|10/12|c.3122-45C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|9/11|n.*123-45C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|9/11|c.2729-45C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|10/12|c.2729-45C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|10/12|c.*52-45C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|10/12|c.1793-45C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|11/13|c.1907-45C>T|||||| 22 50170633 . G A . . ANN=A|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000479985|retained_intron||n.-1C>T|||||870|,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|10/12|c.3121+49C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|9/11|n.*122+49C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|9/11|c.2728+49C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|10/12|c.2728+49C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|10/12|c.*51+49C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|10/12|c.1792+49C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|11/13|c.1906+49C>T|||||| 22 50170674 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|10/12|c.3121+8G>A||||||,T|splice_region_variant&intron_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|9/11|n.*122+8G>A||||||,T|splice_region_variant&intron_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|9/11|c.2728+8G>A||||||,T|splice_region_variant&intron_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|10/12|c.2728+8G>A||||||,T|splice_region_variant&intron_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|10/12|c.*51+8G>A||||||,T|splice_region_variant&intron_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|10/12|c.1792+8G>A||||||,T|splice_region_variant&intron_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|11/13|c.1906+8G>A||||||,T|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000479985|retained_intron||n.-1G>A|||||911| 22 50170743 . G A . . ANN=A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|10/13|c.2978C>T|p.Ala993Val|2994/4453|2978/2988|993/995||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|10/13|c.3060C>T|p.Arg1020Arg|3090/4550|3060/3570|1020/1189||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|9/12|c.2667C>T|p.Arg889Arg|3154/4614|2667/3177|889/1058||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|10/13|c.2667C>T|p.Arg889Arg|2852/4312|2667/3177|889/1058||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|10/13|c.1731C>T|p.Arg577Arg|1798/2723|1731/2241|577/746||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|11/14|c.1845C>T|p.Arg615Arg|2263/3179|1845/2355|615/784||,A|3_prime_UTR_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|9/12|n.*61C>T|||||61|,A|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000479985|retained_intron||n.-1C>T|||||980|,A|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|9/12|n.*61C>T|||||| 22 50170846 . C T . . ANN=T|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000479985|retained_intron||n.-1G>A|||||1083|,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|9/12|c.2994-37G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|8/11|n.1525-37G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|8/11|c.2601-37G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|9/12|c.2601-37G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|9/12|c.2912-37G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|9/12|c.1665-37G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|10/13|c.1779-37G>A|||||| 22 50171276 . G A . . ANN=A|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000479985|retained_intron||n.-1C>T|||||1513|,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|9/12|c.2993+50C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|8/11|n.1524+50C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|8/11|c.2600+50C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|9/12|c.2600+50C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|9/12|c.2911+50C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|9/12|c.1664+50C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|10/13|c.1778+50C>T|||||| 22 50171451 . G A . . ANN=A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|9/13|c.2786C>T|p.Thr929Met|2802/4453|2786/2988|929/995||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|9/13|c.2868C>T|p.Asn956Asn|2898/4550|2868/3570|956/1189||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|8/12|c.2475C>T|p.Asn825Asn|2962/4614|2475/3177|825/1058||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|9/13|c.2475C>T|p.Asn825Asn|2660/4312|2475/3177|825/1058||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|9/13|c.1539C>T|p.Asn513Asn|1606/2723|1539/2241|513/746||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|10/14|c.1653C>T|p.Asn551Asn|2071/3179|1653/2355|551/784||,A|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000479985|retained_intron||n.-1C>T|||||1688|,A|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|8/12|n.1399C>T|||||| 22 50171474 . C T . . ANN=T|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000479985|retained_intron||n.-1G>A|||||1711|,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|8/12|c.2858-13G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|7/11|n.1389-13G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|7/11|c.2465-13G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|8/12|c.2465-13G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|8/12|c.2776-13G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|8/12|c.1529-13G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|9/13|c.1643-13G>A|||||| 22 50181005 . AG A . . ANN=|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|8/12|c.2857+32delC||||||,|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|7/11|n.1388+32delC||||||,|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|7/11|c.2464+32delC||||||,|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|8/12|c.2464+32delC||||||,|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|8/12|c.2775+32delC||||||,|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|8/12|c.1528+32delC||||||,|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|9/13|c.1642+32delC|||||| 22 50181022 . C T . . ANN=T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|8/12|c.2857+16G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|7/11|n.1388+16G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|7/11|c.2464+16G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|8/12|c.2464+16G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|8/12|c.2775+16G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|8/12|c.1528+16G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|9/13|c.1642+16G>A|||||| 22 50181023 . G A . . ANN=A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|8/12|c.2857+15C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|7/11|n.1388+15C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|7/11|c.2464+15C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|8/12|c.2464+15C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|8/12|c.2775+15C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|8/12|c.1528+15C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|9/13|c.1642+15C>T|||||| 22 50187644 . G A . . ANN=A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|7/12|c.2359+38C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|6/11|n.1255+38C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|6/11|c.2359+38C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|7/12|c.2359+38C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|6/12|c.2359+38C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|7/12|c.1423+38C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|8/13|c.1144+38C>T|||||| 22 50187646 . C T . . ANN=T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|7/12|c.2359+36G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|6/11|n.1255+36G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|6/11|c.2359+36G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|7/12|c.2359+36G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|6/12|c.2359+36G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|7/12|c.1423+36G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|8/13|c.1144+36G>A|||||| 22 50187708 . G A . . ANN=A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|7/13|c.2333C>T|p.Ala778Val|2363/4550|2333/3570|778/1189||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|6/12|c.2333C>T|p.Ala778Val|2820/4614|2333/3177|778/1058||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|7/13|c.2333C>T|p.Ala778Val|2518/4312|2333/3177|778/1058||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|6/13|c.2333C>T|p.Ala778Val|2349/4453|2333/2988|778/995||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|7/13|c.1397C>T|p.Ala466Val|1464/2723|1397/2241|466/746||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|8/14|c.1118C>T|p.Ala373Val|1536/3179|1118/2355|373/784||,A|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|6/12|n.1229C>T|||||| 22 50187715 . C T . . ANN=T|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|7/13|c.2326G>A|p.Gly776Arg|2356/4550|2326/3570|776/1189||,T|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|6/12|c.2326G>A|p.Gly776Arg|2813/4614|2326/3177|776/1058||,T|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|7/13|c.2326G>A|p.Gly776Arg|2511/4312|2326/3177|776/1058||,T|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|6/13|c.2326G>A|p.Gly776Arg|2342/4453|2326/2988|776/995||,T|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|7/13|c.1390G>A|p.Gly464Arg|1457/2723|1390/2241|464/746||,T|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|8/14|c.1111G>A|p.Gly371Arg|1529/3179|1111/2355|371/784||,T|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|6/12|n.1222G>A|||||| 22 50187793 . G A . . ANN=A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|7/13|c.2248C>T|p.Leu750Phe|2278/4550|2248/3570|750/1189||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|6/12|c.2248C>T|p.Leu750Phe|2735/4614|2248/3177|750/1058||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|7/13|c.2248C>T|p.Leu750Phe|2433/4312|2248/3177|750/1058||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|6/13|c.2248C>T|p.Leu750Phe|2264/4453|2248/2988|750/995||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|7/13|c.1312C>T|p.Leu438Phe|1379/2723|1312/2241|438/746||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|8/14|c.1033C>T|p.Leu345Phe|1451/3179|1033/2355|345/784||,A|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|6/12|n.1144C>T|||||| 22 50187853 . C T . . ANN=T|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|7/13|c.2188G>A|p.Ala730Thr|2218/4550|2188/3570|730/1189||,T|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|6/12|c.2188G>A|p.Ala730Thr|2675/4614|2188/3177|730/1058||,T|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|7/13|c.2188G>A|p.Ala730Thr|2373/4312|2188/3177|730/1058||,T|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|6/13|c.2188G>A|p.Ala730Thr|2204/4453|2188/2988|730/995||,T|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|7/13|c.1252G>A|p.Ala418Thr|1319/2723|1252/2241|418/746||,T|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|8/14|c.973G>A|p.Ala325Thr|1391/3179|973/2355|325/784||,T|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|6/12|n.1084G>A|||||| 22 50191438 . G A . . ANN=A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|6/12|c.2098+15C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|5/11|n.994+15C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|5/11|c.2098+15C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|6/12|c.2098+15C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|5/12|c.2098+15C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|6/12|c.1162+15C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|7/13|c.883+15C>T|||||| 22 50191441 . G A . . ANN=A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|6/12|c.2098+12C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|5/11|n.994+12C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|5/11|c.2098+12C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|6/12|c.2098+12C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|5/12|c.2098+12C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|6/12|c.1162+12C>T||||||,A|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|7/13|c.883+12C>T|||||| 22 50191454 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|6/13|c.2097C>T|p.Asp699Asp|2127/4550|2097/3570|699/1189||,A|splice_region_variant&non_coding_exon_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|5/12|n.993C>T||||||,A|splice_region_variant&synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|5/12|c.2097C>T|p.Asp699Asp|2584/4614|2097/3177|699/1058||,A|splice_region_variant&synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|6/13|c.2097C>T|p.Asp699Asp|2282/4312|2097/3177|699/1058||,A|splice_region_variant&synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|5/13|c.2097C>T|p.Asp699Asp|2113/4453|2097/2988|699/995||,A|splice_region_variant&synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|6/13|c.1161C>T|p.Asp387Asp|1228/2723|1161/2241|387/746||,A|splice_region_variant&synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|7/14|c.882C>T|p.Asp294Asp|1300/3179|882/2355|294/784|| 22 50191479 . G A . . ANN=A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|6/13|c.2072C>T|p.Pro691Leu|2102/4550|2072/3570|691/1189||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|5/12|c.2072C>T|p.Pro691Leu|2559/4614|2072/3177|691/1058||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|6/13|c.2072C>T|p.Pro691Leu|2257/4312|2072/3177|691/1058||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|5/13|c.2072C>T|p.Pro691Leu|2088/4453|2072/2988|691/995||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|6/13|c.1136C>T|p.Pro379Leu|1203/2723|1136/2241|379/746||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|7/14|c.857C>T|p.Pro286Leu|1275/3179|857/2355|286/784||,A|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|5/12|n.968C>T|||||| 22 50191485 . G A . . ANN=A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|6/13|c.2066C>T|p.Ala689Val|2096/4550|2066/3570|689/1189||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|5/12|c.2066C>T|p.Ala689Val|2553/4614|2066/3177|689/1058||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|6/13|c.2066C>T|p.Ala689Val|2251/4312|2066/3177|689/1058||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|5/13|c.2066C>T|p.Ala689Val|2082/4453|2066/2988|689/995||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|6/13|c.1130C>T|p.Ala377Val|1197/2723|1130/2241|377/746||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|7/14|c.851C>T|p.Ala284Val|1269/3179|851/2355|284/784||,A|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|5/12|n.962C>T|||||| 22 50191532 . G A . . ANN=A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|6/13|c.2019C>T|p.Ile673Ile|2049/4550|2019/3570|673/1189||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|5/12|c.2019C>T|p.Ile673Ile|2506/4614|2019/3177|673/1058||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|6/13|c.2019C>T|p.Ile673Ile|2204/4312|2019/3177|673/1058||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|5/13|c.2019C>T|p.Ile673Ile|2035/4453|2019/2988|673/995||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|6/13|c.1083C>T|p.Ile361Ile|1150/2723|1083/2241|361/746||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|7/14|c.804C>T|p.Ile268Ile|1222/3179|804/2355|268/784||,A|sequence_feature|LOW|BRD1|ENSG00000100425|helix|ENST00000404760|protein_coding|6/13|c.2019C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|helix|ENST00000404034|protein_coding|6/13|c.2019C>T||||||,A|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|5/12|n.915C>T|||||| 22 50191810 . A G . . ANN=G|sequence_feature|LOW|BRD1|ENSG00000100425|domain:Bromo|ENST00000404760|protein_coding|6/13|c.1786-45T>C||||||,G|sequence_feature|LOW|BRD1|ENSG00000100425|domain:Bromo|ENST00000404760|protein_coding|5/13|c.1786-45T>C||||||,G|sequence_feature|LOW|BRD1|ENSG00000100425|domain:Bromo|ENST00000404034|protein_coding|6/13|c.1786-45T>C||||||,G|sequence_feature|LOW|BRD1|ENSG00000100425|domain:Bromo|ENST00000404034|protein_coding|5/13|c.1786-45T>C||||||,G|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|5/12|c.1786-45T>C||||||,G|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|4/11|n.682-45T>C||||||,G|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|4/11|c.1786-45T>C||||||,G|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|5/12|c.1786-45T>C||||||,G|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|4/12|c.1786-45T>C||||||,G|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|5/12|c.850-45T>C||||||,G|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|6/13|c.571-45T>C|||||| 22 50192171 . A G . . ANN=G|sequence_feature|LOW|BRD1|ENSG00000100425|domain:Bromo|ENST00000404760|protein_coding|6/13|c.1785+35T>C||||||,G|sequence_feature|LOW|BRD1|ENSG00000100425|domain:Bromo|ENST00000404760|protein_coding|5/13|c.1785+35T>C||||||,G|sequence_feature|LOW|BRD1|ENSG00000100425|domain:Bromo|ENST00000404034|protein_coding|6/13|c.1785+35T>C||||||,G|sequence_feature|LOW|BRD1|ENSG00000100425|domain:Bromo|ENST00000404034|protein_coding|5/13|c.1785+35T>C||||||,G|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|5/12|c.1785+35T>C||||||,G|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|4/11|n.681+35T>C||||||,G|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|4/11|c.1785+35T>C||||||,G|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|5/12|c.1785+35T>C||||||,G|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|4/12|c.1785+35T>C||||||,G|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|5/12|c.849+50T>C||||||,G|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|6/13|c.570+35T>C|||||| 22 50192174 . C T . . ANN=T|sequence_feature|LOW|BRD1|ENSG00000100425|domain:Bromo|ENST00000404760|protein_coding|6/13|c.1785+32G>A||||||,T|sequence_feature|LOW|BRD1|ENSG00000100425|domain:Bromo|ENST00000404760|protein_coding|5/13|c.1785+32G>A||||||,T|sequence_feature|LOW|BRD1|ENSG00000100425|domain:Bromo|ENST00000404034|protein_coding|6/13|c.1785+32G>A||||||,T|sequence_feature|LOW|BRD1|ENSG00000100425|domain:Bromo|ENST00000404034|protein_coding|5/13|c.1785+32G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|5/12|c.1785+32G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|4/11|n.681+32G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|4/11|c.1785+32G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|5/12|c.1785+32G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|4/12|c.1785+32G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|5/12|c.849+47G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|6/13|c.570+32G>A|||||| 22 50192228 . G A . . ANN=A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|5/13|c.1763C>T|p.Ala588Val|1793/4550|1763/3570|588/1189||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|4/12|c.1763C>T|p.Ala588Val|2250/4614|1763/3177|588/1058||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|5/13|c.1763C>T|p.Ala588Val|1948/4312|1763/3177|588/1058||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|4/13|c.1763C>T|p.Ala588Val|1779/4453|1763/2988|588/995||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|5/13|c.842C>T|p.Ala281Val|909/2723|842/2241|281/746||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|6/14|c.548C>T|p.Ala183Val|966/3179|548/2355|183/784||,A|sequence_feature|LOW|BRD1|ENSG00000100425|domain:Bromo|ENST00000404760|protein_coding|6/13|c.1763C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|domain:Bromo|ENST00000404760|protein_coding|5/13|c.1763C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|beta_strand|ENST00000404760|protein_coding|5/13|c.1763C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|domain:Bromo|ENST00000404034|protein_coding|6/13|c.1763C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|domain:Bromo|ENST00000404034|protein_coding|5/13|c.1763C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|beta_strand|ENST00000404034|protein_coding|5/13|c.1763C>T||||||,A|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|4/12|n.659C>T|||||| 22 50192334 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|5/13|c.1657G>A|p.Val553Met|1687/4550|1657/3570|553/1189||,T|missense_variant&splice_region_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|4/12|c.1657G>A|p.Val553Met|2144/4614|1657/3177|553/1058||,T|missense_variant&splice_region_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|5/13|c.1657G>A|p.Val553Met|1842/4312|1657/3177|553/1058||,T|missense_variant&splice_region_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|4/13|c.1657G>A|p.Val553Met|1673/4453|1657/2988|553/995||,T|missense_variant&splice_region_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|5/13|c.736G>A|p.Val246Met|803/2723|736/2241|246/746||,T|missense_variant&splice_region_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|6/14|c.442G>A|p.Val148Met|860/3179|442/2355|148/784||,T|splice_region_variant&non_coding_exon_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|4/12|n.553G>A|||||| 22 50192616 . C T . . ANN=T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|4/12|c.1656+20G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|3/11|n.552+20G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|3/11|c.1656+20G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|4/12|c.1656+20G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|3/12|c.1656+20G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|4/12|c.735+20G>A||||||,T|intron_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|5/13|c.441+20G>A|||||| 22 50197912 . G A . . ANN=A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|3/13|c.1464C>T|p.Asn488Asn|1494/4550|1464/3570|488/1189||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|2/12|c.1464C>T|p.Asn488Asn|1951/4614|1464/3177|488/1058||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|3/13|c.1464C>T|p.Asn488Asn|1649/4312|1464/3177|488/1058||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|2/13|c.1464C>T|p.Asn488Asn|1480/4453|1464/2988|488/995||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|3/13|c.543C>T|p.Asn181Asn|610/2723|543/2241|181/746||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|4/14|c.249C>T|p.Asn83Asn|667/3179|249/2355|83/784||,A|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|2/12|n.360C>T|||||| 22 50216625 . C A . . ANN=A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|2/13|c.1341G>T|p.Val447Val|1371/4550|1341/3570|447/1189||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|1/12|c.1341G>T|p.Val447Val|1828/4614|1341/3177|447/1058||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|2/13|c.1341G>T|p.Val447Val|1526/4312|1341/3177|447/1058||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|1/13|c.1341G>T|p.Val447Val|1357/4453|1341/2988|447/995||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|1/13|c.258G>T|p.Val86Val|325/2723|258/2241|86/746||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|1/14|c.-190G>T||||||,A|5_prime_UTR_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|1/14|c.-190G>T|||||4604|,A|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|1/12|n.237G>T||||||,A|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000459821|processed_transcript|1/2|n.325G>T||||||,A|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000494833|processed_transcript|1/2|n.229G>T|||||| 22 50216725 . T C . . ANN=C|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|2/13|c.1241A>G|p.Glu414Gly|1271/4550|1241/3570|414/1189||,C|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|1/12|c.1241A>G|p.Glu414Gly|1728/4614|1241/3177|414/1058||,C|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|2/13|c.1241A>G|p.Glu414Gly|1426/4312|1241/3177|414/1058||,C|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|1/13|c.1241A>G|p.Glu414Gly|1257/4453|1241/2988|414/995||,C|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|1/13|c.158A>G|p.Glu53Gly|225/2723|158/2241|53/746||,C|5_prime_UTR_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|1/14|c.-290A>G|||||4704|,C|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|1/12|n.137A>G||||||,C|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000459821|processed_transcript|1/2|n.225A>G||||||,C|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000494833|processed_transcript|1/2|n.129A>G|||||| 22 50216739 . G A . . ANN=A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|2/13|c.1227C>T|p.Gly409Gly|1257/4550|1227/3570|409/1189||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|1/12|c.1227C>T|p.Gly409Gly|1714/4614|1227/3177|409/1058||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|2/13|c.1227C>T|p.Gly409Gly|1412/4312|1227/3177|409/1058||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|1/13|c.1227C>T|p.Gly409Gly|1243/4453|1227/2988|409/995||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|1/13|c.144C>T|p.Gly48Gly|211/2723|144/2241|48/746||,A|5_prime_UTR_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|1/14|c.-304C>T|||||4718|,A|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|1/12|n.123C>T||||||,A|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000459821|processed_transcript|1/2|n.211C>T||||||,A|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000494833|processed_transcript|1/2|n.115C>T|||||| 22 50216754 . G A . . ANN=A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|2/13|c.1212C>T|p.Val404Val|1242/4550|1212/3570|404/1189||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|1/12|c.1212C>T|p.Val404Val|1699/4614|1212/3177|404/1058||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|2/13|c.1212C>T|p.Val404Val|1397/4312|1212/3177|404/1058||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|1/13|c.1212C>T|p.Val404Val|1228/4453|1212/2988|404/995||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|1/13|c.129C>T|p.Val43Val|196/2723|129/2241|43/746||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|1/14|c.-319C>T||||||,A|5_prime_UTR_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|1/14|c.-319C>T|||||4733|,A|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|1/12|n.108C>T||||||,A|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000459821|processed_transcript|1/2|n.196C>T||||||,A|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000494833|processed_transcript|1/2|n.100C>T|||||| 22 50216758 . T C . . ANN=C|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|2/13|c.1208A>G|p.Asp403Gly|1238/4550|1208/3570|403/1189||,C|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|1/12|c.1208A>G|p.Asp403Gly|1695/4614|1208/3177|403/1058||,C|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|2/13|c.1208A>G|p.Asp403Gly|1393/4312|1208/3177|403/1058||,C|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|1/13|c.1208A>G|p.Asp403Gly|1224/4453|1208/2988|403/995||,C|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|1/13|c.125A>G|p.Asp42Gly|192/2723|125/2241|42/746||,C|5_prime_UTR_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|1/14|c.-323A>G|||||4737|,C|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|1/12|n.104A>G||||||,C|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000459821|processed_transcript|1/2|n.192A>G||||||,C|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000494833|processed_transcript|1/2|n.96A>G|||||| 22 50216763 . G A . . ANN=A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|2/13|c.1203C>T|p.Tyr401Tyr|1233/4550|1203/3570|401/1189||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|1/12|c.1203C>T|p.Tyr401Tyr|1690/4614|1203/3177|401/1058||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|2/13|c.1203C>T|p.Tyr401Tyr|1388/4312|1203/3177|401/1058||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|1/13|c.1203C>T|p.Tyr401Tyr|1219/4453|1203/2988|401/995||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|1/13|c.120C>T|p.Tyr40Tyr|187/2723|120/2241|40/746||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|1/14|c.-328C>T||||||,A|5_prime_UTR_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|1/14|c.-328C>T|||||4742|,A|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|1/12|n.99C>T||||||,A|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000459821|processed_transcript|1/2|n.187C>T||||||,A|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000494833|processed_transcript|1/2|n.91C>T|||||| 22 50216799 . C T . . ANN=T|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|2/13|c.1167G>A|p.Thr389Thr|1197/4550|1167/3570|389/1189||,T|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|1/12|c.1167G>A|p.Thr389Thr|1654/4614|1167/3177|389/1058||,T|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|2/13|c.1167G>A|p.Thr389Thr|1352/4312|1167/3177|389/1058||,T|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|1/13|c.1167G>A|p.Thr389Thr|1183/4453|1167/2988|389/995||,T|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|1/13|c.84G>A|p.Thr28Thr|151/2723|84/2241|28/746||,T|sequence_feature|LOW|BRD1|ENSG00000100425|beta_strand|ENST00000404760|protein_coding|2/13|c.1167G>A||||||,T|sequence_feature|LOW|BRD1|ENSG00000100425|beta_strand|ENST00000404034|protein_coding|2/13|c.1167G>A||||||,T|5_prime_UTR_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|1/14|c.-364G>A|||||4778|,T|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|1/12|n.63G>A||||||,T|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000459821|processed_transcript|1/2|n.151G>A||||||,T|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000494833|processed_transcript|1/2|n.55G>A|||||| 22 50216932 . T C . . ANN=C|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|2/13|c.1034A>G|p.Asn345Ser|1064/4550|1034/3570|345/1189||,C|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|1/12|c.1034A>G|p.Asn345Ser|1521/4614|1034/3177|345/1058||,C|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|2/13|c.1034A>G|p.Asn345Ser|1219/4312|1034/3177|345/1058||,C|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|1/13|c.1034A>G|p.Asn345Ser|1050/4453|1034/2988|345/995||,C|sequence_feature|LOW|BRD1|ENSG00000100425|turn|ENST00000404760|protein_coding|2/13|c.1034A>G||||||,C|sequence_feature|LOW|BRD1|ENSG00000100425|turn|ENST00000404034|protein_coding|2/13|c.1034A>G||||||,C|5_prime_UTR_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|1/13|c.-50A>G|||||50|,C|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay||n.-1A>G|||||71|,C|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding||c.-419A>G|||||79|,C|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000494833|processed_transcript||n.-1A>G|||||79|,C|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000459821|processed_transcript|1/2|n.18A>G|||||| 22 50216964 . G A . . ANN=A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|2/13|c.1002C>T|p.Gly334Gly|1032/4550|1002/3570|334/1189||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|1/12|c.1002C>T|p.Gly334Gly|1489/4614|1002/3177|334/1058||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|2/13|c.1002C>T|p.Gly334Gly|1187/4312|1002/3177|334/1058||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|1/13|c.1002C>T|p.Gly334Gly|1018/4453|1002/2988|334/995||,A|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay||n.-1C>T|||||103|,A|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding||c.-68C>T|||||15|,A|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding||c.-419C>T|||||111|,A|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000459821|processed_transcript||n.-1C>T|||||15|,A|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000494833|processed_transcript||n.-1C>T|||||111| 22 50216988 . T C . . ANN=C|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|2/13|c.978A>G|p.Thr326Thr|1008/4550|978/3570|326/1189||,C|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|1/12|c.978A>G|p.Thr326Thr|1465/4614|978/3177|326/1058||,C|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|2/13|c.978A>G|p.Thr326Thr|1163/4312|978/3177|326/1058||,C|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|1/13|c.978A>G|p.Thr326Thr|994/4453|978/2988|326/995||,C|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay||n.-1A>G|||||127|,C|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding||c.-68A>G|||||39|,C|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding||c.-419A>G|||||135|,C|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000459821|processed_transcript||n.-1A>G|||||39|,C|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000494833|processed_transcript||n.-1A>G|||||135| 22 50217033 . G A . . ANN=A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|2/13|c.933C>T|p.Pro311Pro|963/4550|933/3570|311/1189||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|1/12|c.933C>T|p.Pro311Pro|1420/4614|933/3177|311/1058||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|2/13|c.933C>T|p.Pro311Pro|1118/4312|933/3177|311/1058||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|1/13|c.933C>T|p.Pro311Pro|949/4453|933/2988|311/995||,A|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay||n.-1C>T|||||172|,A|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding||c.-68C>T|||||84|,A|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding||c.-419C>T|||||180|,A|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000459821|processed_transcript||n.-1C>T|||||84|,A|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000494833|processed_transcript||n.-1C>T|||||180| 22 50217174 . C G . . ANN=G|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|2/13|c.792G>C|p.Ser264Ser|822/4550|792/3570|264/1189||,G|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|1/12|c.792G>C|p.Ser264Ser|1279/4614|792/3177|264/1058||,G|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|2/13|c.792G>C|p.Ser264Ser|977/4312|792/3177|264/1058||,G|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|1/13|c.792G>C|p.Ser264Ser|808/4453|792/2988|264/995||,G|sequence_feature|LOW|BRD1|ENSG00000100425|helix|ENST00000404760|protein_coding|2/13|c.792G>C||||||,G|sequence_feature|LOW|BRD1|ENSG00000100425|zinc_finger_region:PHD-type|ENST00000404760|protein_coding|2/13|c.792G>C||||||,G|sequence_feature|LOW|BRD1|ENSG00000100425|helix|ENST00000404034|protein_coding|2/13|c.792G>C||||||,G|sequence_feature|LOW|BRD1|ENSG00000100425|zinc_finger_region:PHD-type|ENST00000404034|protein_coding|2/13|c.792G>C||||||,G|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay||n.-1G>C|||||313|,G|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding||c.-68G>C|||||225|,G|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding||c.-419G>C|||||321|,G|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000459821|processed_transcript||n.-1G>C|||||225|,G|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000494833|processed_transcript||n.-1G>C|||||321| 22 50217279 . G A . . ANN=A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|2/13|c.687C>T|p.Asn229Asn|717/4550|687/3570|229/1189||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|1/12|c.687C>T|p.Asn229Asn|1174/4614|687/3177|229/1058||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|2/13|c.687C>T|p.Asn229Asn|872/4312|687/3177|229/1058||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|1/13|c.687C>T|p.Asn229Asn|703/4453|687/2988|229/995||,A|sequence_feature|LOW|BRD1|ENSG00000100425|zinc_finger_region:PHD-type|ENST00000404760|protein_coding|2/13|c.687C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|beta_strand|ENST00000404760|protein_coding|2/13|c.687C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|zinc_finger_region:PHD-type|ENST00000404034|protein_coding|2/13|c.687C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|beta_strand|ENST00000404034|protein_coding|2/13|c.687C>T||||||,A|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay||n.-1C>T|||||418|,A|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding||c.-68C>T|||||330|,A|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding||c.-419C>T|||||426|,A|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000459821|processed_transcript||n.-1C>T|||||330|,A|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000494833|processed_transcript||n.-1C>T|||||426| 22 50217321 . G A . . ANN=A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|2/13|c.645C>T|p.Ala215Ala|675/4550|645/3570|215/1189||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|1/12|c.645C>T|p.Ala215Ala|1132/4614|645/3177|215/1058||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|2/13|c.645C>T|p.Ala215Ala|830/4312|645/3177|215/1058||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|1/13|c.645C>T|p.Ala215Ala|661/4453|645/2988|215/995||,A|sequence_feature|LOW|BRD1|ENSG00000100425|zinc_finger_region:PHD-type|ENST00000404760|protein_coding|2/13|c.645C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|zinc_finger_region:PHD-type|ENST00000404034|protein_coding|2/13|c.645C>T||||||,A|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay||n.-1C>T|||||460|,A|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding||c.-68C>T|||||372|,A|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding||c.-419C>T|||||468|,A|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000459821|processed_transcript||n.-1C>T|||||372|,A|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000494833|processed_transcript||n.-1C>T|||||468| 22 50217387 . G A . . ANN=A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|2/13|c.579C>T|p.Phe193Phe|609/4550|579/3570|193/1189||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|1/12|c.579C>T|p.Phe193Phe|1066/4614|579/3177|193/1058||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|2/13|c.579C>T|p.Phe193Phe|764/4312|579/3177|193/1058||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|1/13|c.579C>T|p.Phe193Phe|595/4453|579/2988|193/995||,A|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay||n.-1C>T|||||526|,A|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding||c.-68C>T|||||438|,A|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding||c.-419C>T|||||534|,A|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000459821|processed_transcript||n.-1C>T|||||438|,A|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000494833|processed_transcript||n.-1C>T|||||534| 22 50217429 . G A . . ANN=A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|2/13|c.537C>T|p.Pro179Pro|567/4550|537/3570|179/1189||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|1/12|c.537C>T|p.Pro179Pro|1024/4614|537/3177|179/1058||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|2/13|c.537C>T|p.Pro179Pro|722/4312|537/3177|179/1058||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|1/13|c.537C>T|p.Pro179Pro|553/4453|537/2988|179/995||,A|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay||n.-1C>T|||||568|,A|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding||c.-68C>T|||||480|,A|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding||c.-419C>T|||||576|,A|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000459821|processed_transcript||n.-1C>T|||||480|,A|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000494833|processed_transcript||n.-1C>T|||||576| 22 50217435 . G A . . ANN=A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|2/13|c.531C>T|p.Cys177Cys|561/4550|531/3570|177/1189||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|1/12|c.531C>T|p.Cys177Cys|1018/4614|531/3177|177/1058||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|2/13|c.531C>T|p.Cys177Cys|716/4312|531/3177|177/1058||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|1/13|c.531C>T|p.Cys177Cys|547/4453|531/2988|177/995||,A|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay||n.-1C>T|||||574|,A|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding||c.-68C>T|||||486|,A|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding||c.-419C>T|||||582|,A|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000459821|processed_transcript||n.-1C>T|||||486|,A|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000494833|processed_transcript||n.-1C>T|||||582| 22 50217633 . C T . . ANN=T|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|2/13|c.333G>A|p.Pro111Pro|363/4550|333/3570|111/1189||,T|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|1/12|c.333G>A|p.Pro111Pro|820/4614|333/3177|111/1058||,T|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|2/13|c.333G>A|p.Pro111Pro|518/4312|333/3177|111/1058||,T|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|1/13|c.333G>A|p.Pro111Pro|349/4453|333/2988|111/995||,T|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay||n.-1G>A|||||772|,T|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding||c.-68G>A|||||684|,T|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding||c.-419G>A|||||780|,T|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000459821|processed_transcript||n.-1G>A|||||684|,T|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000494833|processed_transcript||n.-1G>A|||||780| 22 50217649 . C G . . ANN=G|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|2/13|c.317G>C|p.Ser106Thr|347/4550|317/3570|106/1189||,G|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|1/12|c.317G>C|p.Ser106Thr|804/4614|317/3177|106/1058||,G|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|2/13|c.317G>C|p.Ser106Thr|502/4312|317/3177|106/1058||,G|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|1/13|c.317G>C|p.Ser106Thr|333/4453|317/2988|106/995||,G|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay||n.-1G>C|||||788|,G|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding||c.-68G>C|||||700|,G|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding||c.-419G>C|||||796|,G|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000459821|processed_transcript||n.-1G>C|||||700|,G|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000494833|processed_transcript||n.-1G>C|||||796| 22 50217867 . G A . . ANN=A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|2/13|c.99C>T|p.Tyr33Tyr|129/4550|99/3570|33/1189||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|1/12|c.99C>T|p.Tyr33Tyr|586/4614|99/3177|33/1058||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|2/13|c.99C>T|p.Tyr33Tyr|284/4312|99/3177|33/1058||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|1/13|c.99C>T|p.Tyr33Tyr|115/4453|99/2988|33/995||,A|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay||n.-1C>T|||||1006|,A|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding||c.-68C>T|||||918|,A|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding||c.-419C>T|||||1014|,A|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000459821|processed_transcript||n.-1C>T|||||918|,A|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000494833|processed_transcript||n.-1C>T|||||1014| 22 50217903 . A G . . ANN=G|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|2/13|c.63T>C|p.Ser21Ser|93/4550|63/3570|21/1189||,G|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|1/12|c.63T>C|p.Ser21Ser|550/4614|63/3177|21/1058||,G|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|2/13|c.63T>C|p.Ser21Ser|248/4312|63/3177|21/1058||,G|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|1/13|c.63T>C|p.Ser21Ser|79/4453|63/2988|21/995||,G|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay||n.-1T>C|||||1042|,G|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding||c.-68T>C|||||954|,G|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding||c.-419T>C|||||1050|,G|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000459821|processed_transcript||n.-1T>C|||||954|,G|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000494833|processed_transcript||n.-1T>C|||||1050| 22 50277333 . G T . . ANN=T|missense_variant|MODERATE|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.23G>T|p.Cys8Phe|500/6893|23/3516|8/1171|| 22 50277346 . C T . . ANN=T|synonymous_variant|LOW|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.36C>T|p.Asp12Asp|513/6893|36/3516|12/1171|| 22 50277352 . T G . . ANN=G|missense_variant|MODERATE|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.42T>G|p.Asp14Glu|519/6893|42/3516|14/1171|| 22 50277410 . C T . . ANN=T|missense_variant|MODERATE|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.100C>T|p.Pro34Ser|577/6893|100/3516|34/1171|| 22 50277469 . C T . . ANN=T|synonymous_variant|LOW|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.159C>T|p.Asp53Asp|636/6893|159/3516|53/1171|| 22 50277475 . T G . . ANN=G|synonymous_variant|LOW|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.165T>G|p.Gly55Gly|642/6893|165/3516|55/1171|| 22 50277485 . G C . . ANN=C|missense_variant|MODERATE|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.175G>C|p.Ala59Pro|652/6893|175/3516|59/1171|| 22 50277487 . G A . . ANN=A|synonymous_variant|LOW|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.177G>A|p.Ala59Ala|654/6893|177/3516|59/1171|| 22 50277494 . G A . . ANN=A|missense_variant|MODERATE|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.184G>A|p.Gly62Ser|661/6893|184/3516|62/1171|| 22 50277501 . C T . . ANN=T|missense_variant|MODERATE|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.191C>T|p.Thr64Met|668/6893|191/3516|64/1171|| 22 50277523 . G T . . ANN=T|synonymous_variant|LOW|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.213G>T|p.Pro71Pro|690/6893|213/3516|71/1171|| 22 50277614 . G A . . ANN=A|missense_variant|MODERATE|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.304G>A|p.Val102Met|781/6893|304/3516|102/1171|| 22 50277639 . G A . . ANN=A|missense_variant|MODERATE|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.329G>A|p.Arg110Gln|806/6893|329/3516|110/1171|| 22 50277754 . C T . . ANN=T|synonymous_variant|LOW|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.444C>T|p.Asn148Asn|921/6893|444/3516|148/1171||,T|sequence_feature|LOW|ZBED4|ENSG00000100426|zinc_finger_region:BED-type_1|ENST00000216268|protein_coding|2/2|c.444C>T|||||| 22 50277835 . T C . . ANN=C|synonymous_variant|LOW|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.525T>C|p.Ser175Ser|1002/6893|525/3516|175/1171|| 22 50277883 . A G . . ANN=G|synonymous_variant|LOW|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.573A>G|p.Pro191Pro|1050/6893|573/3516|191/1171|| 22 50277898 . G A . . ANN=A|synonymous_variant|LOW|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.588G>A|p.Ala196Ala|1065/6893|588/3516|196/1171|| 22 50277977 . A G . . ANN=G|missense_variant|MODERATE|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.667A>G|p.Thr223Ala|1144/6893|667/3516|223/1171|| 22 50278026 . T C . . ANN=C|missense_variant|MODERATE|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.716T>C|p.Met239Thr|1193/6893|716/3516|239/1171|| 22 50278218 . A G . . ANN=G|missense_variant|MODERATE|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.908A>G|p.Lys303Arg|1385/6893|908/3516|303/1171||,G|sequence_feature|LOW|ZBED4|ENSG00000100426|zinc_finger_region:BED-type_2|ENST00000216268|protein_coding|2/2|c.908A>G|||||| 22 50278348 . G A . . ANN=A|synonymous_variant|LOW|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.1038G>A|p.Thr346Thr|1515/6893|1038/3516|346/1171|| 22 50278356 . C G . . ANN=G|missense_variant|MODERATE|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.1046C>G|p.Pro349Arg|1523/6893|1046/3516|349/1171|| 22 50278404 . C T . . ANN=T|missense_variant|MODERATE|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.1094C>T|p.Pro365Leu|1571/6893|1094/3516|365/1171|| 22 50278438 . A G . . ANN=G|synonymous_variant|LOW|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.1128A>G|p.Pro376Pro|1605/6893|1128/3516|376/1171|| 22 50278446 . C T . . ANN=T|missense_variant|MODERATE|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.1136C>T|p.Pro379Leu|1613/6893|1136/3516|379/1171|| 22 50278455 . A T . . ANN=T|missense_variant|MODERATE|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.1145A>T|p.Glu382Val|1622/6893|1145/3516|382/1171|| 22 50278510 . C T . . ANN=T|synonymous_variant|LOW|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.1200C>T|p.His400His|1677/6893|1200/3516|400/1171|| 22 50278541 . G A . . ANN=A|missense_variant|MODERATE|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.1231G>A|p.Val411Met|1708/6893|1231/3516|411/1171|| 22 50278568 . A G . . ANN=G|missense_variant|MODERATE|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.1258A>G|p.Ile420Val|1735/6893|1258/3516|420/1171|| 22 50278584 . C T . . ANN=T|missense_variant|MODERATE|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.1274C>T|p.Ala425Val|1751/6893|1274/3516|425/1171|| 22 50278588 . C T . . ANN=T|synonymous_variant|LOW|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.1278C>T|p.Ser426Ser|1755/6893|1278/3516|426/1171|| 22 50278642 . C T . . ANN=T|synonymous_variant|LOW|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.1332C>T|p.Gly444Gly|1809/6893|1332/3516|444/1171|| 22 50278745 . T C . . ANN=C|missense_variant|MODERATE|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.1435T>C|p.Tyr479His|1912/6893|1435/3516|479/1171||,C|sequence_feature|LOW|ZBED4|ENSG00000100426|zinc_finger_region:BED-type_3|ENST00000216268|protein_coding|2/2|c.1435T>C|||||| 22 50278810 . T C . . ANN=C|synonymous_variant|LOW|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.1500T>C|p.His500His|1977/6893|1500/3516|500/1171||,C|sequence_feature|LOW|ZBED4|ENSG00000100426|zinc_finger_region:BED-type_3|ENST00000216268|protein_coding|2/2|c.1500T>C|||||| 22 50278879 . T C . . ANN=C|synonymous_variant|LOW|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.1569T>C|p.Ser523Ser|2046/6893|1569/3516|523/1171|| 22 50278936 . A G . . ANN=G|synonymous_variant|LOW|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.1626A>G|p.Pro542Pro|2103/6893|1626/3516|542/1171|| 22 50278939 . A C . . ANN=C|synonymous_variant|LOW|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.1629A>C|p.Thr543Thr|2106/6893|1629/3516|543/1171|| 22 50278947 . C G . . ANN=G|missense_variant|MODERATE|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.1637C>G|p.Thr546Arg|2114/6893|1637/3516|546/1171|| 22 50278956 . A G . . ANN=G|missense_variant|MODERATE|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.1646A>G|p.Asn549Ser|2123/6893|1646/3516|549/1171|| 22 50278971 . C T . . ANN=T|missense_variant|MODERATE|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.1661C>T|p.Pro554Leu|2138/6893|1661/3516|554/1171|| 22 50279035 . A G . . ANN=G|synonymous_variant|LOW|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.1725A>G|p.Thr575Thr|2202/6893|1725/3516|575/1171||,G|sequence_feature|LOW|ZBED4|ENSG00000100426|zinc_finger_region:BED-type_4|ENST00000216268|protein_coding|2/2|c.1725A>G|||||| 22 50279061 . G A . . ANN=A|missense_variant|MODERATE|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.1751G>A|p.Arg584Gln|2228/6893|1751/3516|584/1171||,A|sequence_feature|LOW|ZBED4|ENSG00000100426|zinc_finger_region:BED-type_4|ENST00000216268|protein_coding|2/2|c.1751G>A|||||| 22 50279086 . G A . . ANN=A|synonymous_variant|LOW|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.1776G>A|p.Pro592Pro|2253/6893|1776/3516|592/1171||,A|sequence_feature|LOW|ZBED4|ENSG00000100426|zinc_finger_region:BED-type_4|ENST00000216268|protein_coding|2/2|c.1776G>A|||||| 22 50279184 . C T . . ANN=T|missense_variant|MODERATE|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.1874C>T|p.Pro625Leu|2351/6893|1874/3516|625/1171|| 22 50279221 . C T . . ANN=T|synonymous_variant|LOW|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.1911C>T|p.Gly637Gly|2388/6893|1911/3516|637/1171|| 22 50279389 . C T . . ANN=T|synonymous_variant|LOW|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.2079C>T|p.Ser693Ser|2556/6893|2079/3516|693/1171|| 22 50279610 . C T . . ANN=T|missense_variant|MODERATE|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.2300C>T|p.Ser767Leu|2777/6893|2300/3516|767/1171|| 22 50279615 . C T . . ANN=T|synonymous_variant|LOW|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.2305C>T|p.Leu769Leu|2782/6893|2305/3516|769/1171|| 22 50279628 . C T . . ANN=T|missense_variant|MODERATE|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.2318C>T|p.Ser773Leu|2795/6893|2318/3516|773/1171|| 22 50279641 . C T . . ANN=T|synonymous_variant|LOW|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.2331C>T|p.Cys777Cys|2808/6893|2331/3516|777/1171|| 22 50279740 . C T . . ANN=T|synonymous_variant|LOW|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.2430C>T|p.Asn810Asn|2907/6893|2430/3516|810/1171|| 22 50279749 . C T . . ANN=T|synonymous_variant|LOW|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.2439C>T|p.Ile813Ile|2916/6893|2439/3516|813/1171|| 22 50279782 . C T . . ANN=T|synonymous_variant|LOW|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.2472C>T|p.Ser824Ser|2949/6893|2472/3516|824/1171|| 22 50279803 . G A . . ANN=A|synonymous_variant|LOW|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.2493G>A|p.Thr831Thr|2970/6893|2493/3516|831/1171|| 22 50279812 . G A . . ANN=A|synonymous_variant|LOW|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.2502G>A|p.Leu834Leu|2979/6893|2502/3516|834/1171|| 22 50279941 . C T . . ANN=T|synonymous_variant|LOW|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.2631C>T|p.Tyr877Tyr|3108/6893|2631/3516|877/1171|| 22 50279962 . C T . . ANN=T|synonymous_variant|LOW|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.2652C>T|p.Leu884Leu|3129/6893|2652/3516|884/1171|| 22 50280044 . A T . . ANN=T|missense_variant|MODERATE|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.2734A>T|p.Met912Leu|3211/6893|2734/3516|912/1171|| 22 50280118 . G A . . ANN=A|synonymous_variant|LOW|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.2808G>A|p.Ala936Ala|3285/6893|2808/3516|936/1171|| 22 50280136 . T C . . ANN=C|synonymous_variant|LOW|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.2826T>C|p.Ala942Ala|3303/6893|2826/3516|942/1171|| 22 50280322 . C T . . ANN=T|synonymous_variant|LOW|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.3012C>T|p.Phe1004Phe|3489/6893|3012/3516|1004/1171|| 22 50280472 . G A . . ANN=A|synonymous_variant|LOW|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.3162G>A|p.Pro1054Pro|3639/6893|3162/3516|1054/1171|| 22 50280475 . G A . . ANN=A|synonymous_variant|LOW|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.3165G>A|p.Ser1055Ser|3642/6893|3165/3516|1055/1171|| 22 50280646 . G A . . ANN=A|synonymous_variant|LOW|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.3336G>A|p.Pro1112Pro|3813/6893|3336/3516|1112/1171|| 22 50280655 . C T . . ANN=T|synonymous_variant|LOW|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.3345C>T|p.Ser1115Ser|3822/6893|3345/3516|1115/1171|| 22 50280688 . A C . . ANN=C|synonymous_variant|LOW|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.3378A>C|p.Pro1126Pro|3855/6893|3378/3516|1126/1171|| 22 50280733 . C T . . ANN=T|synonymous_variant|LOW|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.3423C>T|p.Asn1141Asn|3900/6893|3423/3516|1141/1171|| 22 50280759 . T C . . ANN=C|missense_variant|MODERATE|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.3449T>C|p.Met1150Thr|3926/6893|3449/3516|1150/1171|| 22 50280834 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.*8G>A|||||8| 22 50280837 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.*11G>A|||||11| 22 50280856 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.*30C>T|||||30| 22 50280857 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.*31G>A|||||31| 22 50280870 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.*44C>T|||||44| 22 50280874 . A G . . ANN=G|3_prime_UTR_variant|MODIFIER|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.*48A>G|||||48| 22 50297444 . C T . . ANN=T|missense_variant|MODERATE|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding|4/4|c.527G>A|p.Ser176Asn|528/674|527/615|176/204||WARNING_TRANSCRIPT_NO_START_CODON,T|3_prime_UTR_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|10/10|c.*42G>A|||||42|,T|downstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay||n.*590G>A|||||165|,T|non_coding_exon_variant|MODIFIER|CITF22-1A6.3|ENSG00000273192|transcript|ENST00000610245|lincRNA|1/1|n.1569C>T|||||| 22 50297485 . C G . . ANN=G|missense_variant|MODERATE|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding|4/4|c.486G>C|p.Glu162Asp|487/674|486/615|162/204||WARNING_TRANSCRIPT_NO_START_CODON,G|3_prime_UTR_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|10/10|c.*1G>C|||||1|,G|downstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay||n.*590G>C|||||124|,G|non_coding_exon_variant|MODIFIER|CITF22-1A6.3|ENSG00000273192|transcript|ENST00000610245|lincRNA|1/1|n.1610C>G|||||| 22 50297525 . T C . . ANN=C|missense_variant&splice_region_variant|MODERATE|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding|4/4|c.446A>G|p.Gln149Arg|447/674|446/615|149/204||WARNING_TRANSCRIPT_NO_START_CODON,C|synonymous_variant|LOW|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|10/10|c.1428A>G|p.Thr476Thr|1702/5350|1428/1467|476/488||,C|downstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay||n.*590A>G|||||84|,C|non_coding_exon_variant|MODIFIER|CITF22-1A6.3|ENSG00000273192|transcript|ENST00000610245|lincRNA|1/1|n.1650T>C|||||| 22 50297591 . G A . . ANN=A|synonymous_variant|LOW|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|10/10|c.1362C>T|p.Val454Val|1636/5350|1362/1467|454/488||,A|downstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay||n.*590C>T|||||18|,A|intron_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding|3/3|c.444-64C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|CITF22-1A6.3|ENSG00000273192|transcript|ENST00000610245|lincRNA|1/1|n.1716G>A|||||| 22 50297654 . G A . . ANN=A|synonymous_variant|LOW|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|10/10|c.1299C>T|p.Leu433Leu|1573/5350|1299/1467|433/488||,A|sequence_feature|LOW|ALG12|ENSG00000182858|transmembrane_region:Transmembrane_region|ENST00000330817|protein_coding|10/10|c.1299C>T||||||,A|3_prime_UTR_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay|6/6|n.*118C>T|||||230|,A|intron_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding|3/3|c.444-127C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|CITF22-1A6.3|ENSG00000273192|transcript|ENST00000610245|lincRNA|1/1|n.1779G>A||||||,A|non_coding_exon_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay|6/6|n.*118C>T|||||| 22 50297714 . C G . . ANN=G|missense_variant&splice_region_variant|MODERATE|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|10/10|c.1239G>C|p.Arg413Ser|1513/5350|1239/1467|413/488||,G|splice_region_variant&non_coding_exon_variant|LOW|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay|6/6|n.*58G>C||||||,G|3_prime_UTR_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay|6/6|n.*58G>C|||||170|,G|intron_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding|3/3|c.443+113G>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|non_coding_exon_variant|MODIFIER|CITF22-1A6.3|ENSG00000273192|transcript|ENST00000610245|lincRNA|1/1|n.1839C>G|||||| 22 50297754 . C T . . ANN=T|intron_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|9/9|c.1239-40G>A||||||,T|intron_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding|3/3|c.443+73G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay|5/5|n.*58-40G>A||||||,T|non_coding_exon_variant|MODIFIER|CITF22-1A6.3|ENSG00000273192|transcript|ENST00000610245|lincRNA|1/1|n.1879C>T|||||| 22 50297757 . C T . . ANN=T|intron_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|9/9|c.1239-43G>A||||||,T|intron_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding|3/3|c.443+70G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay|5/5|n.*58-43G>A||||||,T|non_coding_exon_variant|MODIFIER|CITF22-1A6.3|ENSG00000273192|transcript|ENST00000610245|lincRNA|1/1|n.1882C>T|||||| 22 50297841 . G A . . ANN=A|synonymous_variant|LOW|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|9/10|c.1224C>T|p.Val408Val|1498/5350|1224/1467|408/488||,A|synonymous_variant|LOW|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding|3/4|c.429C>T|p.Val143Val|430/674|429/615|143/204||WARNING_TRANSCRIPT_NO_START_CODON,A|3_prime_UTR_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay|5/6|n.*43C>T|||||43|,A|non_coding_exon_variant|MODIFIER|CITF22-1A6.3|ENSG00000273192|transcript|ENST00000610245|lincRNA|1/1|n.1966G>A||||||,A|non_coding_exon_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay|5/6|n.*43C>T|||||| 22 50297888 . T C . . ANN=C|missense_variant|MODERATE|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|9/10|c.1177A>G|p.Ile393Val|1451/5350|1177/1467|393/488||,C|missense_variant|MODERATE|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding|3/4|c.382A>G|p.Ile128Val|383/674|382/615|128/204||WARNING_TRANSCRIPT_NO_START_CODON,C|non_coding_exon_variant|MODIFIER|CITF22-1A6.3|ENSG00000273192|transcript|ENST00000610245|lincRNA|1/1|n.2013T>C||||||,C|non_coding_exon_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay|5/6|n.584A>G|||||| 22 50297921 . C T . . ANN=T|intron_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|8/9|c.1163-19G>A||||||,T|intron_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding|2/3|c.368-19G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay|4/5|n.570-19G>A||||||,T|non_coding_exon_variant|MODIFIER|CITF22-1A6.3|ENSG00000273192|transcript|ENST00000610245|lincRNA|1/1|n.2046C>T|||||| 22 50297992 . G A . . ANN=A|synonymous_variant|LOW|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|8/10|c.1155C>T|p.Pro385Pro|1429/5350|1155/1467|385/488||,A|synonymous_variant|LOW|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding|2/4|c.360C>T|p.Pro120Pro|361/674|360/615|120/204||WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|CITF22-1A6.3|ENSG00000273192|transcript|ENST00000610245|lincRNA|1/1|n.2117G>A||||||,A|non_coding_exon_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay|4/6|n.562C>T|||||| 22 50298100 . G A . . ANN=A|synonymous_variant|LOW|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|8/10|c.1047C>T|p.Ile349Ile|1321/5350|1047/1467|349/488||,A|synonymous_variant|LOW|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding|2/4|c.252C>T|p.Ile84Ile|253/674|252/615|84/204||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|ALG12|ENSG00000182858|transmembrane_region:Transmembrane_region|ENST00000330817|protein_coding|8/10|c.1047C>T||||||,A|intron_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay|3/5|n.522-68C>T||||||,A|non_coding_exon_variant|MODIFIER|CITF22-1A6.3|ENSG00000273192|transcript|ENST00000610245|lincRNA|1/1|n.2225G>A|||||| 22 50298118 . C T . . ANN=T|synonymous_variant|LOW|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|8/10|c.1029G>A|p.Ala343Ala|1303/5350|1029/1467|343/488||,T|synonymous_variant|LOW|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding|2/4|c.234G>A|p.Ala78Ala|235/674|234/615|78/204||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay|3/5|n.522-86G>A||||||,T|non_coding_exon_variant|MODIFIER|CITF22-1A6.3|ENSG00000273192|transcript|ENST00000610245|lincRNA|1/1|n.2243C>T|||||| 22 50298173 . C T . . ANN=T|sequence_feature|LOW|ALG12|ENSG00000182858|transmembrane_region:Transmembrane_region|ENST00000330817|protein_coding|7/10|c.993-19G>A||||||,T|sequence_feature|LOW|ALG12|ENSG00000182858|transmembrane_region:Transmembrane_region|ENST00000330817|protein_coding|8/10|c.993-19G>A||||||,T|intron_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|7/9|c.993-19G>A||||||,T|intron_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding|1/3|c.198-19G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay|3/5|n.522-141G>A||||||,T|non_coding_exon_variant|MODIFIER|CITF22-1A6.3|ENSG00000273192|transcript|ENST00000610245|lincRNA|1/1|n.2298C>T|||||| 22 50301422 . G A . . ANN=A|synonymous_variant|LOW|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|7/10|c.939C>T|p.Ile313Ile|1213/5350|939/1467|313/488||,A|synonymous_variant|LOW|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding|1/4|c.144C>T|p.Ile48Ile|145/674|144/615|48/204||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|ALG12|ENSG00000182858|transmembrane_region:Transmembrane_region|ENST00000330817|protein_coding|7/10|c.939C>T||||||,A|sequence_feature|LOW|ALG12|ENSG00000182858|transmembrane_region:Transmembrane_region|ENST00000330817|protein_coding|8/10|c.939C>T||||||,A|downstream_gene_variant|MODIFIER|CITF22-1A6.3|ENSG00000273192|transcript|ENST00000610245|lincRNA||n.*2349G>A|||||3198|,A|non_coding_exon_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay|3/6|n.468C>T|||||| 22 50301476 . T C . . ANN=C|synonymous_variant|LOW|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|7/10|c.885A>G|p.Ala295Ala|1159/5350|885/1467|295/488||,C|synonymous_variant|LOW|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding|1/4|c.90A>G|p.Ala30Ala|91/674|90/615|30/204||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|ALG12|ENSG00000182858|transmembrane_region:Transmembrane_region|ENST00000330817|protein_coding|7/10|c.885A>G||||||,C|downstream_gene_variant|MODIFIER|CITF22-1A6.3|ENSG00000273192|transcript|ENST00000610245|lincRNA||n.*2349T>C|||||3252|,C|non_coding_exon_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay|3/6|n.414A>G|||||| 22 50301488 . C T . . ANN=T|synonymous_variant|LOW|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|7/10|c.873G>A|p.Pro291Pro|1147/5350|873/1467|291/488||,T|synonymous_variant|LOW|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding|1/4|c.78G>A|p.Pro26Pro|79/674|78/615|26/204||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|ALG12|ENSG00000182858|transmembrane_region:Transmembrane_region|ENST00000330817|protein_coding|7/10|c.873G>A||||||,T|downstream_gene_variant|MODIFIER|CITF22-1A6.3|ENSG00000273192|transcript|ENST00000610245|lincRNA||n.*2349C>T|||||3264|,T|non_coding_exon_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay|3/6|n.402G>A|||||| 22 50301494 . G A . . ANN=A|synonymous_variant|LOW|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|7/10|c.867C>T|p.His289His|1141/5350|867/1467|289/488||,A|synonymous_variant|LOW|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding|1/4|c.72C>T|p.His24His|73/674|72/615|24/204||WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|CITF22-1A6.3|ENSG00000273192|transcript|ENST00000610245|lincRNA||n.*2349G>A|||||3270|,A|non_coding_exon_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay|3/6|n.396C>T|||||| 22 50301584 . C T . . ANN=T|synonymous_variant|LOW|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|7/10|c.777G>A|p.Pro259Pro|1051/5350|777/1467|259/488||,T|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding||c.-2G>A|||||18|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|CITF22-1A6.3|ENSG00000273192|transcript|ENST00000610245|lincRNA||n.*2349C>T|||||3360|,T|non_coding_exon_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay|3/6|n.306G>A|||||| 22 50301613 . GCCACGCACCTGT G . . ANN=|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding||c.-2_-2delACAGGTGCGTGG|||||48|WARNING_TRANSCRIPT_NO_START_CODON,|downstream_gene_variant|MODIFIER|CITF22-1A6.3|ENSG00000273192|transcript|ENST00000610245|lincRNA||n.*2349_*2349delCCACGCACCTGT|||||3390|,|intron_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|6/9|c.769-33_769-22delACAGGTGCGTGG||||||,|intron_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay|2/5|n.298-33_298-22delACAGGTGCGTGG|||||| 22 50301622 . C T . . ANN=T|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding||c.-2G>A|||||56|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|CITF22-1A6.3|ENSG00000273192|transcript|ENST00000610245|lincRNA||n.*2349C>T|||||3398|,T|intron_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|6/9|c.769-30G>A||||||,T|intron_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay|2/5|n.298-30G>A|||||| 22 50302875 . C T . . ANN=T|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding||c.-2G>A|||||1309|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|CITF22-1A6.3|ENSG00000273192|transcript|ENST00000610245|lincRNA||n.*2349C>T|||||4651|,T|intron_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|6/9|c.768+17G>A||||||,T|intron_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay|2/5|n.297+17G>A|||||| 22 50302891 . C T . . ANN=T|splice_donor_variant&intron_variant|HIGH|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|6/9|c.768+1G>A||||||,T|splice_donor_variant&intron_variant|HIGH|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay|2/5|n.297+1G>A||||||,T|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding||c.-2G>A|||||1325|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|CITF22-1A6.3|ENSG00000273192|transcript|ENST00000610245|lincRNA||n.*2349C>T|||||4667|;LOF=(ALG12|ENSG00000182858|3|0.33) 22 50302962 . C T . . ANN=T|missense_variant|MODERATE|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|6/10|c.698G>A|p.Arg233Gln|972/5350|698/1467|233/488||,T|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding||c.-2G>A|||||1396|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|CITF22-1A6.3|ENSG00000273192|transcript|ENST00000610245|lincRNA||n.*2349C>T|||||4738|,T|non_coding_exon_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay|2/6|n.227G>A|||||| 22 50302995 . C G . . ANN=G|missense_variant&splice_region_variant|MODERATE|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|6/10|c.665G>C|p.Gly222Ala|939/5350|665/1467|222/488||,G|splice_region_variant&non_coding_exon_variant|LOW|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay|2/6|n.194G>C||||||,G|sequence_feature|LOW|ALG12|ENSG00000182858|transmembrane_region:Transmembrane_region|ENST00000330817|protein_coding|6/10|c.665G>C||||||,G|sequence_feature|LOW|ALG12|ENSG00000182858|transmembrane_region:Transmembrane_region|ENST00000330817|protein_coding|5/10|c.665G>C||||||,G|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding||c.-2G>C|||||1429|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|CITF22-1A6.3|ENSG00000273192|transcript|ENST00000610245|lincRNA||n.*2349C>G|||||4771| 22 50303024 . C T . . ANN=T|sequence_feature|LOW|ALG12|ENSG00000182858|transmembrane_region:Transmembrane_region|ENST00000330817|protein_coding|6/10|c.665-29G>A||||||,T|sequence_feature|LOW|ALG12|ENSG00000182858|transmembrane_region:Transmembrane_region|ENST00000330817|protein_coding|5/10|c.665-29G>A||||||,T|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding||c.-2G>A|||||1458|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|CITF22-1A6.3|ENSG00000273192|transcript|ENST00000610245|lincRNA||n.*2349C>T|||||4800|,T|intron_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|5/9|c.665-29G>A||||||,T|intron_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay|1/5|n.194-29G>A|||||| 22 50303495 . A G . . ANN=G|sequence_feature|LOW|ALG12|ENSG00000182858|transmembrane_region:Transmembrane_region|ENST00000330817|protein_coding|6/10|c.664+47T>C||||||,G|sequence_feature|LOW|ALG12|ENSG00000182858|transmembrane_region:Transmembrane_region|ENST00000330817|protein_coding|5/10|c.664+47T>C||||||,G|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding||c.-2T>C|||||1929|WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|5/9|c.664+47T>C||||||,G|intron_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay|1/5|n.193+47T>C|||||| 22 50303515 . A C . . ANN=C|sequence_feature|LOW|ALG12|ENSG00000182858|transmembrane_region:Transmembrane_region|ENST00000330817|protein_coding|6/10|c.664+27T>G||||||,C|sequence_feature|LOW|ALG12|ENSG00000182858|transmembrane_region:Transmembrane_region|ENST00000330817|protein_coding|5/10|c.664+27T>G||||||,C|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding||c.-2T>G|||||1949|WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|5/9|c.664+27T>G||||||,C|intron_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay|1/5|n.193+27T>G|||||| 22 50303524 . CCA C . . ANN=|sequence_feature|LOW|ALG12|ENSG00000182858|transmembrane_region:Transmembrane_region|ENST00000330817|protein_coding|6/10|c.664+16_664+17delTG||||||,|sequence_feature|LOW|ALG12|ENSG00000182858|transmembrane_region:Transmembrane_region|ENST00000330817|protein_coding|5/10|c.664+16_664+17delTG||||||,|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding||c.-2_-2delTG|||||1959|WARNING_TRANSCRIPT_NO_START_CODON,|intron_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|5/9|c.664+16_664+17delTG||||||,|intron_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay|1/5|n.193+16_193+17delTG|||||| 22 50303530 . T C . . ANN=C|sequence_feature|LOW|ALG12|ENSG00000182858|transmembrane_region:Transmembrane_region|ENST00000330817|protein_coding|6/10|c.664+12A>G||||||,C|sequence_feature|LOW|ALG12|ENSG00000182858|transmembrane_region:Transmembrane_region|ENST00000330817|protein_coding|5/10|c.664+12A>G||||||,C|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding||c.-2A>G|||||1964|WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|5/9|c.664+12A>G||||||,C|intron_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay|1/5|n.193+12A>G|||||| 22 50303533 . C G . . ANN=G|sequence_feature|LOW|ALG12|ENSG00000182858|transmembrane_region:Transmembrane_region|ENST00000330817|protein_coding|6/10|c.664+9G>C||||||,G|sequence_feature|LOW|ALG12|ENSG00000182858|transmembrane_region:Transmembrane_region|ENST00000330817|protein_coding|5/10|c.664+9G>C||||||,G|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding||c.-2G>C|||||1967|WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|5/9|c.664+9G>C||||||,G|intron_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay|1/5|n.193+9G>C|||||| 22 50303554 . T C . . ANN=C|missense_variant|MODERATE|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|5/10|c.652A>G|p.Ile218Val|926/5350|652/1467|218/488||,C|sequence_feature|LOW|ALG12|ENSG00000182858|transmembrane_region:Transmembrane_region|ENST00000330817|protein_coding|6/10|c.652A>G||||||,C|sequence_feature|LOW|ALG12|ENSG00000182858|transmembrane_region:Transmembrane_region|ENST00000330817|protein_coding|5/10|c.652A>G||||||,C|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding||c.-2A>G|||||1988|WARNING_TRANSCRIPT_NO_START_CODON,C|non_coding_exon_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay|1/6|n.181A>G|||||| 22 50303561 . C T . . ANN=T|synonymous_variant|LOW|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|5/10|c.645G>A|p.Pro215Pro|919/5350|645/1467|215/488||,T|sequence_feature|LOW|ALG12|ENSG00000182858|transmembrane_region:Transmembrane_region|ENST00000330817|protein_coding|6/10|c.645G>A||||||,T|sequence_feature|LOW|ALG12|ENSG00000182858|transmembrane_region:Transmembrane_region|ENST00000330817|protein_coding|5/10|c.645G>A||||||,T|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding||c.-2G>A|||||1995|WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay|1/6|n.174G>A|||||| 22 50303567 . G A . . ANN=A|synonymous_variant|LOW|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|5/10|c.639C>T|p.Ala213Ala|913/5350|639/1467|213/488||,A|sequence_feature|LOW|ALG12|ENSG00000182858|transmembrane_region:Transmembrane_region|ENST00000330817|protein_coding|6/10|c.639C>T||||||,A|sequence_feature|LOW|ALG12|ENSG00000182858|transmembrane_region:Transmembrane_region|ENST00000330817|protein_coding|5/10|c.639C>T||||||,A|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding||c.-2C>T|||||2001|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay|1/6|n.168C>T|||||| 22 50303569 . C T . . ANN=T|missense_variant|MODERATE|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|5/10|c.637G>A|p.Ala213Thr|911/5350|637/1467|213/488||,T|sequence_feature|LOW|ALG12|ENSG00000182858|transmembrane_region:Transmembrane_region|ENST00000330817|protein_coding|6/10|c.637G>A||||||,T|sequence_feature|LOW|ALG12|ENSG00000182858|transmembrane_region:Transmembrane_region|ENST00000330817|protein_coding|5/10|c.637G>A||||||,T|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding||c.-2G>A|||||2003|WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay|1/6|n.166G>A|||||| 22 50303575 . G A . . ANN=A|missense_variant|MODERATE|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|5/10|c.631C>T|p.Arg211Cys|905/5350|631/1467|211/488||,A|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding||c.-2C>T|||||2009|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay|1/6|n.160C>T|||||| 22 50303666 . G A . . ANN=A|synonymous_variant|LOW|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|5/10|c.540C>T|p.Ile180Ile|814/5350|540/1467|180/488||,A|sequence_feature|LOW|ALG12|ENSG00000182858|transmembrane_region:Transmembrane_region|ENST00000330817|protein_coding|5/10|c.540C>T||||||,A|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding||c.-2C>T|||||2100|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay|1/6|n.69C>T|||||| 22 50303705 . G A . . ANN=A|synonymous_variant|LOW|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|5/10|c.501C>T|p.His167His|775/5350|501/1467|167/488||,A|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding||c.-2C>T|||||2139|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay|1/6|n.30C>T|||||| 22 50303748 . T A . . ANN=A|sequence_feature|LOW|ALG12|ENSG00000182858|transmembrane_region:Transmembrane_region|ENST00000330817|protein_coding|4/10|c.470-12A>T||||||,A|sequence_feature|LOW|ALG12|ENSG00000182858|transmembrane_region:Transmembrane_region|ENST00000330817|protein_coding|5/10|c.470-12A>T||||||,A|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding||c.-2A>T|||||2182|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay||n.-3A>T|||||12|,A|intron_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|4/9|c.470-12A>T|||||| 22 50304068 . C T . . ANN=T|sequence_feature|LOW|ALG12|ENSG00000182858|transmembrane_region:Transmembrane_region|ENST00000330817|protein_coding|4/10|c.469+14G>A||||||,T|sequence_feature|LOW|ALG12|ENSG00000182858|transmembrane_region:Transmembrane_region|ENST00000330817|protein_coding|5/10|c.469+14G>A||||||,T|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding||c.-2G>A|||||2502|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay||n.-3G>A|||||332|,T|intron_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|4/9|c.469+14G>A|||||| 22 50304069 . G A . . ANN=A|sequence_feature|LOW|ALG12|ENSG00000182858|transmembrane_region:Transmembrane_region|ENST00000330817|protein_coding|4/10|c.469+13C>T||||||,A|sequence_feature|LOW|ALG12|ENSG00000182858|transmembrane_region:Transmembrane_region|ENST00000330817|protein_coding|5/10|c.469+13C>T||||||,A|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding||c.-2C>T|||||2503|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay||n.-3C>T|||||333|,A|intron_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|4/9|c.469+13C>T|||||| 22 50304086 . A G . . ANN=G|synonymous_variant|LOW|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|4/10|c.465T>C|p.Pro155Pro|739/5350|465/1467|155/488||,G|sequence_feature|LOW|ALG12|ENSG00000182858|transmembrane_region:Transmembrane_region|ENST00000330817|protein_coding|4/10|c.465T>C||||||,G|sequence_feature|LOW|ALG12|ENSG00000182858|transmembrane_region:Transmembrane_region|ENST00000330817|protein_coding|5/10|c.465T>C||||||,G|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding||c.-2T>C|||||2520|WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay||n.-3T>C|||||350| 22 50304136 . G A . . ANN=A|missense_variant|MODERATE|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|4/10|c.415C>T|p.His139Tyr|689/5350|415/1467|139/488||,A|sequence_feature|LOW|ALG12|ENSG00000182858|transmembrane_region:Transmembrane_region|ENST00000330817|protein_coding|4/10|c.415C>T||||||,A|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding||c.-2C>T|||||2570|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay||n.-3C>T|||||400| 22 50304166 . T C . . ANN=C|missense_variant|MODERATE|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|4/10|c.385A>G|p.Met129Val|659/5350|385/1467|129/488||,C|sequence_feature|LOW|ALG12|ENSG00000182858|transmembrane_region:Transmembrane_region|ENST00000330817|protein_coding|4/10|c.385A>G||||||,C|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding||c.-2A>G|||||2600|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay||n.-3A>G|||||430| 22 50304192 . C T . . ANN=T|missense_variant|MODERATE|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|4/10|c.359G>A|p.Arg120Gln|633/5350|359/1467|120/488||,T|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding||c.-2G>A|||||2626|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay||n.-3G>A|||||456| 22 50304232 . C T . . ANN=T|missense_variant|MODERATE|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|4/10|c.319G>A|p.Val107Met|593/5350|319/1467|107/488||,T|sequence_feature|LOW|ALG12|ENSG00000182858|transmembrane_region:Transmembrane_region|ENST00000330817|protein_coding|3/10|c.319G>A||||||,T|sequence_feature|LOW|ALG12|ENSG00000182858|transmembrane_region:Transmembrane_region|ENST00000330817|protein_coding|4/10|c.319G>A||||||,T|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding||c.-2G>A|||||2666|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay||n.-3G>A|||||496| 22 50307139 . G A . . ANN=A|synonymous_variant|LOW|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|3/10|c.189C>T|p.Val63Val|463/5350|189/1467|63/488||,A|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay||n.-3C>T|||||3403|,A|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding||c.-276G>A|||||4676|WARNING_TRANSCRIPT_INCOMPLETE 22 50307162 . C T . . ANN=T|missense_variant|MODERATE|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|3/10|c.166G>A|p.Asp56Asn|440/5350|166/1467|56/488||,T|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay||n.-3G>A|||||3426|,T|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding||c.-276C>T|||||4653|WARNING_TRANSCRIPT_INCOMPLETE 22 50307184 . G T . . ANN=T|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay||n.-3C>A|||||3448|,T|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding||c.-276G>T|||||4631|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|2/9|c.163-19C>A|||||| 22 50307229 . CA C . . ANN=|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay||n.-3delT|||||3494|,|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding||c.-276delA|||||4585|WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|2/9|c.162+22delT|||||| 22 50307236 . A C . . ANN=C|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay||n.-3T>G|||||3500|,C|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding||c.-276A>C|||||4579|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|2/9|c.162+16T>G|||||| 22 50307282 . G A . . ANN=A|synonymous_variant|LOW|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|2/10|c.132C>T|p.Asp44Asp|406/5350|132/1467|44/488||,A|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay||n.-3C>T|||||3546|,A|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding||c.-276G>A|||||4533|WARNING_TRANSCRIPT_INCOMPLETE 22 50307315 . C T . . ANN=T|synonymous_variant|LOW|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|2/10|c.99G>A|p.Val33Val|373/5350|99/1467|33/488||,T|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding||c.-136C>T|||||4968|,T|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay||n.-3G>A|||||3579|,T|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding||c.-276C>T|||||4500|WARNING_TRANSCRIPT_INCOMPLETE 22 50307366 . C G . . ANN=G|synonymous_variant|LOW|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|2/10|c.48G>C|p.Leu16Leu|322/5350|48/1467|16/488||,G|sequence_feature|LOW|ALG12|ENSG00000182858|transmembrane_region:Transmembrane_region|ENST00000330817|protein_coding|2/10|c.48G>C||||||,G|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding||c.-136C>G|||||4917|,G|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay||n.-3G>C|||||3630|,G|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding||c.-276C>G|||||4449|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding||c.-75C>G|||||4978| 22 50307386 . G A . . ANN=A|missense_variant|MODERATE|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|2/10|c.28C>T|p.Arg10Trp|302/5350|28/1467|10/488||,A|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding||c.-136G>A|||||4897|,A|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay||n.-3C>T|||||3650|,A|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding||c.-276G>A|||||4429|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding||c.-75G>A|||||4958|,A|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron||n.-1G>A|||||4995|,A|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding||c.-38G>A|||||4995|,A|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding||c.-38G>A|||||4995| 22 50312382 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|1/11|c.-36G>A|||||36|,A|5_prime_UTR_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|1/10|c.-36G>A|||||36|,A|5_prime_UTR_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|1/9|c.-36G>A|||||36|,A|5_prime_UTR_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|1/9|c.-36G>A|||||36|,A|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding||c.-275C>T|||||276|,A|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron||n.-1G>A|||||36|,A|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.-1G>A|||||2555|,A|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript||n.-1G>A|||||2573|,A|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript||n.-1G>A|||||2850|,A|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron||n.-1G>A|||||4476|,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding|1/6|c.-11-25G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|1/9|n.2G>A|||||| 22 50312543 . C T . . ANN=T|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|1/11|c.126C>T|p.Asn42Asn|261/1577|126/1209|42/402||,T|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding|2/7|c.126C>T|p.Asn42Asn|401/963|126/688|42/228||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|1/10|c.126C>T|p.Asn42Asn|200/1357|126/1062|42/353||,T|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|1/9|c.126C>T|p.Asn42Asn|163/1242|126/978|42/325||,T|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|1/9|c.126C>T|p.Asn42Asn|163/1230|126/966|42/321||,T|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding||c.-275G>A|||||437|,T|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.-1C>T|||||2394|,T|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript||n.-1C>T|||||2412|,T|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript||n.-1C>T|||||2689|,T|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron||n.-1C>T|||||4315|,T|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|1/9|n.163C>T||||||,T|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron|1/7|n.126C>T|||||| 22 50312869 . T C . . ANN=C|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding||c.-275A>G|||||763|,C|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.-1T>C|||||2068|,C|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript||n.-1T>C|||||2086|,C|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript||n.-1T>C|||||2363|,C|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron||n.-1T>C|||||3989|,C|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|1/10|c.130-9T>C||||||,C|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding|2/6|c.130-9T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|1/9|c.130-9T>C||||||,C|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|1/8|n.167-9T>C||||||,C|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|1/8|c.130-9T>C||||||,C|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|1/8|c.130-9T>C||||||,C|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron|1/6|n.130-9T>C|||||| 22 50312895 . AAAG A . . ANN=|disruptive_inframe_deletion|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|2/11|c.153_155delGAA|p.Lys51del|288/1577|153/1209|51/402||INFO_REALIGN_3_PRIME,|disruptive_inframe_deletion|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding|3/7|c.153_155delGAA|p.Lys51del|428/963|153/688|51/228||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME,|disruptive_inframe_deletion|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|2/10|c.153_155delGAA|p.Lys51del|227/1357|153/1062|51/353||INFO_REALIGN_3_PRIME,|disruptive_inframe_deletion|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|2/9|c.153_155delGAA|p.Lys51del|190/1242|153/978|51/325||INFO_REALIGN_3_PRIME,|disruptive_inframe_deletion|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|2/9|c.153_155delGAA|p.Lys51del|190/1230|153/966|51/321||INFO_REALIGN_3_PRIME,|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding||c.-275_-275delCTT|||||790|,|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.-1_-1delAAG|||||2041|,|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript||n.-1_-1delAAG|||||2059|,|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript||n.-1_-1delAAG|||||2336|,|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron||n.-1_-1delAAG|||||3962|,|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|2/9|n.190_192delGAA||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron|2/7|n.153_155delGAA||||||INFO_REALIGN_3_PRIME 22 50312979 . C T . . ANN=T|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding||c.-275G>A|||||873|,T|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.-1C>T|||||1958|,T|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript||n.-1C>T|||||1976|,T|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript||n.-1C>T|||||2253|,T|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron||n.-1C>T|||||3879|,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|2/10|c.212+19C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding|3/6|c.212+19C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|2/9|c.212+19C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|2/8|n.249+19C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|2/8|c.212+19C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|2/8|c.212+19C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron|2/6|n.212+19C>T|||||| 22 50313344 . G C . . ANN=C|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding||c.-275C>G|||||1238|,C|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.-1G>C|||||1593|,C|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript||n.-1G>C|||||1611|,C|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript||n.-1G>C|||||1888|,C|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron||n.-1G>C|||||3514|,C|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|2/10|c.213-34G>C||||||,C|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding|3/6|c.213-34G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|2/9|c.213-34G>C||||||,C|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|2/8|n.250-34G>C||||||,C|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|2/8|c.213-34G>C||||||,C|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|2/8|c.213-34G>C||||||,C|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron|2/6|n.213-34G>C|||||| 22 50313358 . G C . . ANN=C|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding||c.-275C>G|||||1252|,C|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.-1G>C|||||1579|,C|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript||n.-1G>C|||||1597|,C|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript||n.-1G>C|||||1874|,C|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron||n.-1G>C|||||3500|,C|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|2/10|c.213-20G>C||||||,C|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding|3/6|c.213-20G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|2/9|c.213-20G>C||||||,C|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|2/8|n.250-20G>C||||||,C|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|2/8|c.213-20G>C||||||,C|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|2/8|c.213-20G>C||||||,C|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron|2/6|n.213-20G>C|||||| 22 50313359 . G A . . ANN=A|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding||c.-275C>T|||||1253|,A|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.-1G>A|||||1578|,A|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript||n.-1G>A|||||1596|,A|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript||n.-1G>A|||||1873|,A|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron||n.-1G>A|||||3499|,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|2/10|c.213-19G>A||||||,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding|3/6|c.213-19G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|2/9|c.213-19G>A||||||,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|2/8|n.250-19G>A||||||,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|2/8|c.213-19G>A||||||,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|2/8|c.213-19G>A||||||,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron|2/6|n.213-19G>A|||||| 22 50313438 . T C . . ANN=C|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|3/11|c.273T>C|p.Asn91Asn|408/1577|273/1209|91/402||,C|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding|4/7|c.273T>C|p.Asn91Asn|548/963|273/688|91/228||WARNING_TRANSCRIPT_INCOMPLETE,C|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|3/10|c.273T>C|p.Asn91Asn|347/1357|273/1062|91/353||,C|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|3/9|c.273T>C|p.Asn91Asn|310/1242|273/978|91/325||,C|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|3/9|c.273T>C|p.Asn91Asn|310/1230|273/966|91/321||,C|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding||c.-275A>G|||||1332|,C|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.-1T>C|||||1499|,C|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript||n.-1T>C|||||1517|,C|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript||n.-1T>C|||||1794|,C|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron||n.-1T>C|||||3420|,C|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|3/9|n.310T>C||||||,C|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron|3/7|n.273T>C|||||| 22 50313452 . C T . . ANN=T|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|3/11|c.287C>T|p.Ala96Val|422/1577|287/1209|96/402||,T|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding|4/7|c.287C>T|p.Ala96Val|562/963|287/688|96/228||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|3/10|c.287C>T|p.Ala96Val|361/1357|287/1062|96/353||,T|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|3/9|c.287C>T|p.Ala96Val|324/1242|287/978|96/325||,T|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|3/9|c.287C>T|p.Ala96Val|324/1230|287/966|96/321||,T|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding||c.-275G>A|||||1346|,T|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.-1C>T|||||1485|,T|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript||n.-1C>T|||||1503|,T|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript||n.-1C>T|||||1780|,T|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron||n.-1C>T|||||3406|,T|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|3/9|n.324C>T||||||,T|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron|3/7|n.287C>T|||||| 22 50313791 . C T . . ANN=T|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding||c.-275G>A|||||1685|,T|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.-1C>T|||||1146|,T|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript||n.-1C>T|||||1164|,T|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript||n.-1C>T|||||1441|,T|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron||n.-1C>T|||||3067|,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|3/10|c.324-13C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding|4/6|c.324-13C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|3/9|c.324-13C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|3/8|n.361-13C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|3/8|c.324-13C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|3/8|c.324-13C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron|3/6|n.324-13C>T|||||| 22 50313810 . C T . . ANN=T|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|4/11|c.330C>T|p.Ser110Ser|465/1577|330/1209|110/402||,T|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding|5/7|c.330C>T|p.Ser110Ser|605/963|330/688|110/228||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|4/10|c.330C>T|p.Ser110Ser|404/1357|330/1062|110/353||,T|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|4/9|c.330C>T|p.Ser110Ser|367/1242|330/978|110/325||,T|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|4/9|c.330C>T|p.Ser110Ser|367/1230|330/966|110/321||,T|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding||c.-275G>A|||||1704|,T|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.-1C>T|||||1127|,T|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript||n.-1C>T|||||1145|,T|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript||n.-1C>T|||||1422|,T|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron||n.-1C>T|||||3048|,T|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|4/9|n.367C>T||||||,T|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron|4/7|n.330C>T|||||| 22 50313826 . T C . . ANN=C|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|4/11|c.346T>C|p.Phe116Leu|481/1577|346/1209|116/402||,C|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding|5/7|c.346T>C|p.Phe116Leu|621/963|346/688|116/228||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|4/10|c.346T>C|p.Phe116Leu|420/1357|346/1062|116/353||,C|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|4/9|c.346T>C|p.Phe116Leu|383/1242|346/978|116/325||,C|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|4/9|c.346T>C|p.Phe116Leu|383/1230|346/966|116/321||,C|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding||c.-275A>G|||||1720|,C|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.-1T>C|||||1111|,C|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript||n.-1T>C|||||1129|,C|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript||n.-1T>C|||||1406|,C|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron||n.-1T>C|||||3032|,C|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|4/9|n.383T>C||||||,C|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron|4/7|n.346T>C|||||| 22 50313846 . G A . . ANN=A|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|4/11|c.366G>A|p.Lys122Lys|501/1577|366/1209|122/402||,A|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding|5/7|c.366G>A|p.Lys122Lys|641/963|366/688|122/228||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|4/10|c.366G>A|p.Lys122Lys|440/1357|366/1062|122/353||,A|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|4/9|c.366G>A|p.Lys122Lys|403/1242|366/978|122/325||,A|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|4/9|c.366G>A|p.Lys122Lys|403/1230|366/966|122/321||,A|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding||c.-275C>T|||||1740|,A|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.-1G>A|||||1091|,A|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript||n.-1G>A|||||1109|,A|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript||n.-1G>A|||||1386|,A|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron||n.-1G>A|||||3012|,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|4/9|n.403G>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron|4/7|n.366G>A|||||| 22 50313880 . G A . . ANN=A|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|4/11|c.400G>A|p.Gly134Ser|535/1577|400/1209|134/402||,A|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding|5/7|c.400G>A|p.Gly134Ser|675/963|400/688|134/228||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|4/10|c.400G>A|p.Gly134Ser|474/1357|400/1062|134/353||,A|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|4/9|c.400G>A|p.Gly134Ser|437/1242|400/978|134/325||,A|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|4/9|c.400G>A|p.Gly134Ser|437/1230|400/966|134/321||,A|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding||c.-275C>T|||||1774|,A|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.-1G>A|||||1057|,A|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript||n.-1G>A|||||1075|,A|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript||n.-1G>A|||||1352|,A|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron||n.-1G>A|||||2978|,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|4/9|n.437G>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron|4/7|n.400G>A|||||| 22 50313899 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|4/10|c.415+4C>T||||||,T|splice_region_variant&intron_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding|5/6|c.415+4C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|splice_region_variant&intron_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|4/9|c.415+4C>T||||||,T|splice_region_variant&intron_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|4/8|n.452+4C>T||||||,T|splice_region_variant&intron_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|4/8|c.415+4C>T||||||,T|splice_region_variant&intron_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|4/8|c.415+4C>T||||||,T|splice_region_variant&intron_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron|4/6|n.415+4C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_1|ENST00000404488|protein_coding|5/11|c.415+4C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_1|ENST00000404488|protein_coding|4/11|c.415+4C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_1|ENST00000328268|protein_coding|5/10|c.415+4C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_1|ENST00000328268|protein_coding|4/10|c.415+4C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_1|ENST00000403427|protein_coding|5/9|c.415+4C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_1|ENST00000403427|protein_coding|4/9|c.415+4C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_1|ENST00000407217|protein_coding|5/9|c.415+4C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_1|ENST00000407217|protein_coding|4/9|c.415+4C>T||||||,T|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding||c.-275G>A|||||1793|,T|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.-1C>T|||||1038|,T|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript||n.-1C>T|||||1056|,T|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript||n.-1C>T|||||1333|,T|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron||n.-1C>T|||||2959| 22 50313930 . G C . . ANN=C|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_1|ENST00000404488|protein_coding|5/11|c.415+35G>C||||||,C|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_1|ENST00000404488|protein_coding|4/11|c.415+35G>C||||||,C|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_1|ENST00000328268|protein_coding|5/10|c.415+35G>C||||||,C|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_1|ENST00000328268|protein_coding|4/10|c.415+35G>C||||||,C|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_1|ENST00000403427|protein_coding|5/9|c.415+35G>C||||||,C|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_1|ENST00000403427|protein_coding|4/9|c.415+35G>C||||||,C|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_1|ENST00000407217|protein_coding|5/9|c.415+35G>C||||||,C|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_1|ENST00000407217|protein_coding|4/9|c.415+35G>C||||||,C|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding||c.-275C>G|||||1824|,C|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.-1G>C|||||1007|,C|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript||n.-1G>C|||||1025|,C|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript||n.-1G>C|||||1302|,C|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron||n.-1G>C|||||2928|,C|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|4/10|c.415+35G>C||||||,C|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding|5/6|c.415+35G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|4/9|c.415+35G>C||||||,C|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|4/8|n.452+35G>C||||||,C|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|4/8|c.415+35G>C||||||,C|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|4/8|c.415+35G>C||||||,C|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron|4/6|n.415+35G>C|||||| 22 50315228 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|4/10|c.416-5T>C||||||,C|splice_region_variant&intron_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding|5/6|c.416-5T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|splice_region_variant&intron_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|4/9|c.416-5T>C||||||,C|splice_region_variant&intron_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|4/8|n.453-5T>C||||||,C|splice_region_variant&intron_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|4/8|c.416-5T>C||||||,C|splice_region_variant&intron_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|4/8|c.416-5T>C||||||,C|splice_region_variant&intron_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron|4/6|n.416-5T>C||||||,C|splice_region_variant&intron_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript|1/2|n.186-5T>C||||||,C|splice_region_variant&intron_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript|1/3|n.168-5T>C||||||,C|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_1|ENST00000404488|protein_coding|5/11|c.416-5T>C||||||,C|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_1|ENST00000404488|protein_coding|4/11|c.416-5T>C||||||,C|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_1|ENST00000328268|protein_coding|5/10|c.416-5T>C||||||,C|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_1|ENST00000328268|protein_coding|4/10|c.416-5T>C||||||,C|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_1|ENST00000403427|protein_coding|5/9|c.416-5T>C||||||,C|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_1|ENST00000403427|protein_coding|4/9|c.416-5T>C||||||,C|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_1|ENST00000407217|protein_coding|5/9|c.416-5T>C||||||,C|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_1|ENST00000407217|protein_coding|4/9|c.416-5T>C||||||,C|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding||c.-275A>G|||||3122|,C|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript||n.-1T>C|||||4|,C|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron||n.-1T>C|||||1630| 22 50315303 . C T . . ANN=T|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|5/11|c.486C>T|p.Gly162Gly|621/1577|486/1209|162/402||,T|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding|6/7|c.486C>T|p.Gly162Gly|761/963|486/688|162/228||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|5/10|c.486C>T|p.Gly162Gly|560/1357|486/1062|162/353||,T|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|5/9|c.486C>T|p.Gly162Gly|523/1242|486/978|162/325||,T|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|5/9|c.486C>T|p.Gly162Gly|523/1230|486/966|162/321||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_1|ENST00000404488|protein_coding|5/11|c.486C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_1|ENST00000404488|protein_coding|4/11|c.486C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|disulfide_bond|ENST00000404488|protein_coding|5/11|c.486C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_1|ENST00000328268|protein_coding|5/10|c.486C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_1|ENST00000328268|protein_coding|4/10|c.486C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|disulfide_bond|ENST00000328268|protein_coding|5/10|c.486C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_1|ENST00000403427|protein_coding|5/9|c.486C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_1|ENST00000403427|protein_coding|4/9|c.486C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|disulfide_bond|ENST00000403427|protein_coding|5/9|c.486C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_1|ENST00000407217|protein_coding|5/9|c.486C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_1|ENST00000407217|protein_coding|4/9|c.486C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|disulfide_bond|ENST00000407217|protein_coding|5/9|c.486C>T||||||,T|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding||c.-275G>A|||||3197|,T|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron||n.-1C>T|||||1555|,T|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|5/9|n.523C>T||||||,T|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron|5/7|n.486C>T||||||,T|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript|2/3|n.256C>T||||||,T|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript|2/4|n.238C>T||||||,T|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript|1/5|n.72C>T|||||| 22 50315306 . C T . . ANN=T|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|5/11|c.489C>T|p.Asp163Asp|624/1577|489/1209|163/402||,T|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding|6/7|c.489C>T|p.Asp163Asp|764/963|489/688|163/228||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|5/10|c.489C>T|p.Asp163Asp|563/1357|489/1062|163/353||,T|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|5/9|c.489C>T|p.Asp163Asp|526/1242|489/978|163/325||,T|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|5/9|c.489C>T|p.Asp163Asp|526/1230|489/966|163/321||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_1|ENST00000404488|protein_coding|5/11|c.489C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_1|ENST00000404488|protein_coding|4/11|c.489C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|disulfide_bond|ENST00000404488|protein_coding|5/11|c.489C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_1|ENST00000328268|protein_coding|5/10|c.489C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_1|ENST00000328268|protein_coding|4/10|c.489C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|disulfide_bond|ENST00000328268|protein_coding|5/10|c.489C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_1|ENST00000403427|protein_coding|5/9|c.489C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_1|ENST00000403427|protein_coding|4/9|c.489C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|disulfide_bond|ENST00000403427|protein_coding|5/9|c.489C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_1|ENST00000407217|protein_coding|5/9|c.489C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_1|ENST00000407217|protein_coding|4/9|c.489C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|disulfide_bond|ENST00000407217|protein_coding|5/9|c.489C>T||||||,T|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding||c.-275G>A|||||3200|,T|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron||n.-1C>T|||||1552|,T|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|5/9|n.526C>T||||||,T|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron|5/7|n.489C>T||||||,T|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript|2/3|n.259C>T||||||,T|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript|2/4|n.241C>T||||||,T|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript|1/5|n.75C>T|||||| 22 50315361 . G A . . ANN=A|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|5/11|c.544G>A|p.Asp182Asn|679/1577|544/1209|182/402||,A|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding|6/7|c.544G>A|p.Asp182Asn|819/963|544/688|182/228||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|5/10|c.544G>A|p.Asp182Asn|618/1357|544/1062|182/353||,A|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|5/9|c.544G>A|p.Asp182Asn|581/1242|544/978|182/325||,A|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|5/9|c.544G>A|p.Asp182Asn|581/1230|544/966|182/321||,A|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding||c.-275C>T|||||3255|,A|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron||n.-1G>A|||||1497|,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|5/9|n.581G>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron|5/7|n.544G>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript|2/3|n.314G>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript|2/4|n.296G>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript|1/5|n.130G>A|||||| 22 50315363 . C A . . ANN=A|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|5/11|c.546C>A|p.Asp182Glu|681/1577|546/1209|182/402||,A|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding|6/7|c.546C>A|p.Asp182Glu|821/963|546/688|182/228||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|5/10|c.546C>A|p.Asp182Glu|620/1357|546/1062|182/353||,A|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|5/9|c.546C>A|p.Asp182Glu|583/1242|546/978|182/325||,A|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|5/9|c.546C>A|p.Asp182Glu|583/1230|546/966|182/321||,A|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding||c.-275G>T|||||3257|,A|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron||n.-1C>A|||||1495|,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|5/9|n.583C>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron|5/7|n.546C>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript|2/3|n.316C>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript|2/4|n.298C>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript|1/5|n.132C>A|||||| 22 50315382 . C G . . ANN=G|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|5/11|c.565C>G|p.Arg189Gly|700/1577|565/1209|189/402||,G|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding|6/7|c.565C>G|p.Arg189Gly|840/963|565/688|189/228||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|5/10|c.565C>G|p.Arg189Gly|639/1357|565/1062|189/353||,G|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|5/9|c.565C>G|p.Arg189Gly|602/1242|565/978|189/325||,G|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|5/9|c.565C>G|p.Arg189Gly|602/1230|565/966|189/321||,G|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding||c.-275G>C|||||3276|,G|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron||n.-1C>G|||||1476|,G|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|5/9|n.602C>G||||||,G|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron|5/7|n.565C>G||||||,G|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript|2/3|n.335C>G||||||,G|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript|2/4|n.317C>G||||||,G|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript|1/5|n.151C>G|||||| 22 50315386 . A G . . ANN=G|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|5/11|c.569A>G|p.Asn190Ser|704/1577|569/1209|190/402||,G|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding|6/7|c.569A>G|p.Asn190Ser|844/963|569/688|190/228||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|5/10|c.569A>G|p.Asn190Ser|643/1357|569/1062|190/353||,G|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|5/9|c.569A>G|p.Asn190Ser|606/1242|569/978|190/325||,G|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|5/9|c.569A>G|p.Asn190Ser|606/1230|569/966|190/321||,G|sequence_feature|MODERATE|CRELD2|ENSG00000184164|glycosylation_site:N-linked__GlcNAc..._|ENST00000328268|protein_coding|5/10|c.569A>G||||||,G|sequence_feature|MODERATE|CRELD2|ENSG00000184164|glycosylation_site:N-linked__GlcNAc..._|ENST00000403427|protein_coding|5/9|c.569A>G||||||,G|sequence_feature|MODERATE|CRELD2|ENSG00000184164|glycosylation_site:N-linked__GlcNAc..._|ENST00000407217|protein_coding|5/9|c.569A>G||||||,G|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding||c.-275T>C|||||3280|,G|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron||n.-1A>G|||||1472|,G|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|5/9|n.606A>G||||||,G|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron|5/7|n.569A>G||||||,G|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript|2/3|n.339A>G||||||,G|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript|2/4|n.321A>G||||||,G|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript|1/5|n.155A>G|||||| 22 50315413 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|5/10|c.592+4C>T||||||,T|splice_region_variant&intron_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding|6/6|c.592+4C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|splice_region_variant&intron_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|5/9|c.592+4C>T||||||,T|splice_region_variant&intron_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|5/8|n.629+4C>T||||||,T|splice_region_variant&intron_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|5/8|c.592+4C>T||||||,T|splice_region_variant&intron_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|5/8|c.592+4C>T||||||,T|splice_region_variant&intron_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron|5/6|n.592+4C>T||||||,T|splice_region_variant&intron_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript|2/2|n.362+4C>T||||||,T|splice_region_variant&intron_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript|2/3|n.344+4C>T||||||,T|splice_region_variant&intron_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript|1/4|n.178+4C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|5/10|c.592+4C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|6/10|c.592+4C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|7/10|c.592+4C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|5/9|c.592+4C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|6/9|c.592+4C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|7/9|c.592+4C>T||||||,T|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding||c.-275G>A|||||3307|,T|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron||n.-1C>T|||||1445| 22 50315421 . G A . . ANN=A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|5/10|c.592+12G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|6/10|c.592+12G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|7/10|c.592+12G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|5/9|c.592+12G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|6/9|c.592+12G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|7/9|c.592+12G>A||||||,A|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding||c.-275C>T|||||3315|,A|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron||n.-1G>A|||||1437|,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|5/10|c.592+12G>A||||||,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding|6/6|c.592+12G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|5/9|c.592+12G>A||||||,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|5/8|n.629+12G>A||||||,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|5/8|c.592+12G>A||||||,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|5/8|c.592+12G>A||||||,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron|5/6|n.592+12G>A||||||,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript|2/2|n.362+12G>A||||||,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript|2/3|n.344+12G>A||||||,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript|1/4|n.178+12G>A|||||| 22 50315902 . G C . . ANN=C|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|5/10|c.593-358G>C||||||,C|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|6/10|c.593-358G>C||||||,C|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|7/10|c.593-358G>C||||||,C|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|5/9|c.593-358G>C||||||,C|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|6/9|c.593-358G>C||||||,C|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|7/9|c.593-358G>C||||||,C|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding||c.-275C>G|||||3796|,C|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron||n.-1G>C|||||956|,C|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.*525G>C|||||221|,C|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|5/10|c.593-43G>C||||||,C|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding|6/6|c.593-358G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|5/9|c.593-358G>C||||||,C|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|5/8|n.630-358G>C||||||,C|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|5/8|c.593-358G>C||||||,C|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|5/8|c.593-358G>C||||||,C|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron|5/6|n.593-358G>C||||||,C|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript|2/3|n.345-358G>C||||||,C|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript|1/4|n.179-358G>C|||||| 22 50315904 . TAGTCAGGACCGGCCTCTCCGATTCTTACGCCCCTCAGC T . . ANN=|frameshift_variant&splice_acceptor_variant&splice_region_variant&splice_region_variant&intron_variant|HIGH|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|6/11|c.593-12_618delGCCCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTAC|p.Val198fs||593/1209|198/402||INFO_REALIGN_3_PRIME,|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|5/10|c.593-355_593-318delAGTCAGGACCGGCCTCTCCGATTCTTACGCCCCTCAGC||||||,|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|6/10|c.593-355_593-318delAGTCAGGACCGGCCTCTCCGATTCTTACGCCCCTCAGC||||||,|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|7/10|c.593-355_593-318delAGTCAGGACCGGCCTCTCCGATTCTTACGCCCCTCAGC||||||,|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|5/9|c.593-355_593-318delAGTCAGGACCGGCCTCTCCGATTCTTACGCCCCTCAGC||||||,|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|6/9|c.593-355_593-318delAGTCAGGACCGGCCTCTCCGATTCTTACGCCCCTCAGC||||||,|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|7/9|c.593-355_593-318delAGTCAGGACCGGCCTCTCCGATTCTTACGCCCCTCAGC||||||,|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding||c.-275_-275delGCTGAGGGGCGTAAGAATCGGAGAGGCCGGTCCTGACT|||||3799|,|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron||n.-1_-1delAGTCAGGACCGGCCTCTCCGATTCTTACGCCCCTCAGC|||||953|,|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.*525_*525delAGTCAGGACCGGCCTCTCCGATTCTTACGCCCCTCAGC|||||224|,|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding|6/6|c.593-327_593-290delGCCCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTAC||||||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|5/9|c.593-327_593-290delGCCCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTAC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|5/8|n.630-327_630-290delGCCCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTAC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|5/8|c.593-327_593-290delGCCCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTAC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|5/8|c.593-327_593-290delGCCCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTAC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron|5/6|n.593-327_593-290delGCCCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTAC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript|2/3|n.345-327_345-290delGCCCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTAC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript|1/4|n.179-327_179-290delGCCCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTAC||||||INFO_REALIGN_3_PRIME;LOF=(CRELD2|ENSG00000184164|11|0.09) 22 50315924 . G T . . ANN=T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|5/10|c.593-336G>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|6/10|c.593-336G>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|7/10|c.593-336G>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|5/9|c.593-336G>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|6/9|c.593-336G>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|7/9|c.593-336G>T||||||,T|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding||c.-275C>A|||||3818|,T|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron||n.-1G>T|||||934|,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.*525G>T|||||243|,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|5/10|c.593-21G>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding|6/6|c.593-336G>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|5/9|c.593-336G>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|5/8|n.630-336G>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|5/8|c.593-336G>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|5/8|c.593-336G>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron|5/6|n.593-336G>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript|2/3|n.345-336G>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript|1/4|n.179-336G>T|||||| 22 50315928 . C G . . ANN=G|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|5/10|c.593-332C>G||||||,G|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|6/10|c.593-332C>G||||||,G|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|7/10|c.593-332C>G||||||,G|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|5/9|c.593-332C>G||||||,G|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|6/9|c.593-332C>G||||||,G|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|7/9|c.593-332C>G||||||,G|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding||c.-275G>C|||||3822|,G|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron||n.-1C>G|||||930|,G|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.*525C>G|||||247|,G|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|5/10|c.593-17C>G||||||,G|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding|6/6|c.593-332C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|5/9|c.593-332C>G||||||,G|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|5/8|n.630-332C>G||||||,G|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|5/8|c.593-332C>G||||||,G|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|5/8|c.593-332C>G||||||,G|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron|5/6|n.593-332C>G||||||,G|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript|2/3|n.345-332C>G||||||,G|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript|1/4|n.179-332C>G|||||| 22 50315935 . CCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG C . . ANN=|frameshift_variant&splice_acceptor_variant&splice_region_variant&splice_region_variant&intron_variant|HIGH|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|6/11|c.593-6_624delCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCGCCT|p.Val198fs||593/1209|198/402||INFO_REALIGN_3_PRIME,|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|5/10|c.593-324_593-287delCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG||||||,|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|6/10|c.593-324_593-287delCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG||||||,|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|7/10|c.593-324_593-287delCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG||||||,|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|5/9|c.593-324_593-287delCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG||||||,|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|6/9|c.593-324_593-287delCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG||||||,|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|7/9|c.593-324_593-287delCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG||||||,|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding||c.-275_-275delCGGGTAAGAATCGGAGAGGCCGGTCCTGACTGCTGAGG|||||3830|,|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron||n.-1_-1delCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG|||||922|,|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.*525_*525delCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG|||||255|,|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding|6/6|c.593-321_593-284delCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCGCCT||||||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|5/9|c.593-321_593-284delCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCGCCT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|5/8|n.630-321_630-284delCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCGCCT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|5/8|c.593-321_593-284delCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCGCCT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|5/8|c.593-321_593-284delCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCGCCT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron|5/6|n.593-321_593-284delCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCGCCT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript|2/3|n.345-321_345-284delCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCGCCT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript|1/4|n.179-321_179-284delCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCGCCT||||||INFO_REALIGN_3_PRIME;LOF=(CRELD2|ENSG00000184164|11|0.09) 22 50315938 . TC T . . ANN=|splice_region_variant&intron_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|5/10|c.593-6delC||||||,|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|5/10|c.593-321delC||||||,|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|6/10|c.593-321delC||||||,|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|7/10|c.593-321delC||||||,|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|5/9|c.593-321delC||||||,|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|6/9|c.593-321delC||||||,|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|7/9|c.593-321delC||||||,|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding||c.-275delG|||||3833|,|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron||n.-1delC|||||919|,|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.*525delC|||||258|,|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding|6/6|c.593-321delC||||||WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|5/9|c.593-321delC||||||,|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|5/8|n.630-321delC||||||,|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|5/8|c.593-321delC||||||,|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|5/8|c.593-321delC||||||,|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron|5/6|n.593-321delC||||||,|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript|2/3|n.345-321delC||||||,|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript|1/4|n.179-321delC|||||| 22 50315961 . C T . . ANN=T|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|6/11|c.609C>T|p.Ser203Ser|744/1577|609/1209|203/402||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|5/10|c.593-299C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|6/10|c.593-299C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|7/10|c.593-299C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|5/9|c.593-299C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|6/9|c.593-299C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|7/9|c.593-299C>T||||||,T|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding||c.-275G>A|||||3855|,T|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron||n.-1C>T|||||897|,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.*525C>T|||||280|,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding|6/6|c.593-299C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|5/9|c.593-299C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|5/8|n.630-299C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|5/8|c.593-299C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|5/8|c.593-299C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron|5/6|n.593-299C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript|2/3|n.345-299C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript|1/4|n.179-299C>T|||||| 22 50315973 . G C . . ANN=C|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|6/11|c.621G>C|p.Pro207Pro|756/1577|621/1209|207/402||,C|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|5/10|c.593-287G>C||||||,C|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|6/10|c.593-287G>C||||||,C|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|7/10|c.593-287G>C||||||,C|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|5/9|c.593-287G>C||||||,C|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|6/9|c.593-287G>C||||||,C|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|7/9|c.593-287G>C||||||,C|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding||c.-275C>G|||||3867|,C|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron||n.-1G>C|||||885|,C|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.*525G>C|||||292|,C|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding|6/6|c.593-287G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|5/9|c.593-287G>C||||||,C|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|5/8|n.630-287G>C||||||,C|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|5/8|c.593-287G>C||||||,C|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|5/8|c.593-287G>C||||||,C|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron|5/6|n.593-287G>C||||||,C|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript|2/3|n.345-287G>C||||||,C|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript|1/4|n.179-287G>C|||||| 22 50316007 . G A . . ANN=A|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|6/11|c.655G>A|p.Val219Met|790/1577|655/1209|219/402||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|5/10|c.593-253G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|6/10|c.593-253G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|7/10|c.593-253G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|5/9|c.593-253G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|6/9|c.593-253G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|7/9|c.593-253G>A||||||,A|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding||c.-275C>T|||||3901|,A|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron||n.-1G>A|||||851|,A|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.*525G>A|||||326|,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding|6/6|c.593-253G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|5/9|c.593-253G>A||||||,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|5/8|n.630-253G>A||||||,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|5/8|c.593-253G>A||||||,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|5/8|c.593-253G>A||||||,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron|5/6|n.593-253G>A||||||,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript|2/3|n.345-253G>A||||||,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript|1/4|n.179-253G>A|||||| 22 50316015 . C T . . ANN=T|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|6/11|c.663C>T|p.His221His|798/1577|663/1209|221/402||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|5/10|c.593-245C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|6/10|c.593-245C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|7/10|c.593-245C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|5/9|c.593-245C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|6/9|c.593-245C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|7/9|c.593-245C>T||||||,T|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding||c.-275G>A|||||3909|,T|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron||n.-1C>T|||||843|,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.*525C>T|||||334|,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding|6/6|c.593-245C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|5/9|c.593-245C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|5/8|n.630-245C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|5/8|c.593-245C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|5/8|c.593-245C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron|5/6|n.593-245C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript|2/3|n.345-245C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript|1/4|n.179-245C>T|||||| 22 50316288 . G A . . ANN=A|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|7/11|c.768G>A|p.Ser256Ser|903/1577|768/1209|256/402||,A|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding|7/7|c.621G>A|p.Ser207Ser|896/963|621/688|207/228||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|6/10|c.621G>A|p.Ser207Ser|695/1357|621/1062|207/353||,A|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|6/9|c.621G>A|p.Ser207Ser|658/1242|621/978|207/325||,A|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|6/9|c.621G>A|p.Ser207Ser|658/1230|621/966|207/321||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|5/10|c.621G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|6/10|c.621G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|7/10|c.621G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|5/9|c.621G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|6/9|c.621G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|7/9|c.621G>A||||||,A|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding||c.-275C>T|||||4182|,A|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron||n.-1G>A|||||570|,A|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.*525G>A|||||607|,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|6/9|n.658G>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron|6/7|n.621G>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript|3/4|n.373G>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript|2/5|n.207G>A|||||| 22 50316369 . C T . . ANN=T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|5/10|c.688+14C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|6/10|c.688+14C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|7/10|c.688+14C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|5/9|c.688+14C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|6/9|c.688+14C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|7/9|c.688+14C>T||||||,T|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding||c.-275G>A|||||4263|,T|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron||n.-1C>T|||||489|,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding||c.*963C>T|||||14|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.*525C>T|||||688|,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|7/10|c.835+14C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|6/9|c.688+14C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|6/8|n.725+14C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|6/8|c.688+14C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|6/8|c.688+14C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron|6/6|n.688+14C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript|3/3|n.440+14C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript|2/4|n.274+14C>T|||||| 22 50316374 . G A . . ANN=A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|5/10|c.688+19G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|6/10|c.688+19G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|7/10|c.688+19G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|5/9|c.688+19G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|6/9|c.688+19G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|7/9|c.688+19G>A||||||,A|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding||c.-275C>T|||||4268|,A|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron||n.-1G>A|||||484|,A|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding||c.*963G>A|||||19|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.*525G>A|||||693|,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|7/10|c.835+19G>A||||||,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|6/9|c.688+19G>A||||||,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|6/8|n.725+19G>A||||||,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|6/8|c.688+19G>A||||||,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|6/8|c.688+19G>A||||||,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron|6/6|n.688+19G>A||||||,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript|3/3|n.440+19G>A||||||,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript|2/4|n.274+19G>A|||||| 22 50316835 . T C . . ANN=C|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|5/10|c.689-47T>C||||||,C|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|6/10|c.689-47T>C||||||,C|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|7/10|c.689-47T>C||||||,C|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|5/9|c.689-47T>C||||||,C|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|6/9|c.689-47T>C||||||,C|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|7/9|c.689-47T>C||||||,C|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding||c.-275A>G|||||4729|,C|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron||n.-1T>C|||||23|,C|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding||c.*963T>C|||||480|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.*525T>C|||||1154|,C|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|7/10|c.836-47T>C||||||,C|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|6/9|c.689-47T>C||||||,C|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|6/8|n.726-47T>C||||||,C|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|6/8|c.688+480T>C||||||,C|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|6/8|c.689-47T>C||||||,C|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron|6/6|n.689-47T>C||||||,C|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript|3/3|n.441-47T>C||||||,C|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript|2/4|n.275-47T>C|||||| 22 50316839 . C T . . ANN=T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|5/10|c.689-43C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|6/10|c.689-43C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|7/10|c.689-43C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|5/9|c.689-43C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|6/9|c.689-43C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|7/9|c.689-43C>T||||||,T|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding||c.-275G>A|||||4733|,T|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron||n.-1C>T|||||19|,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding||c.*963C>T|||||484|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.*525C>T|||||1158|,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|7/10|c.836-43C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|6/9|c.689-43C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|6/8|n.726-43C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|6/8|c.688+484C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|6/8|c.689-43C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron|6/6|n.689-43C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript|3/3|n.441-43C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript|2/4|n.275-43C>T|||||| 22 50316901 . C T . . ANN=T|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|8/11|c.855C>T|p.Ala285Ala|990/1577|855/1209|285/402||,T|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|7/10|c.708C>T|p.Ala236Ala|782/1357|708/1062|236/353||,T|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|7/9|c.708C>T|p.Ala236Ala|745/1230|708/966|236/321||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|5/10|c.708C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|6/10|c.708C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|7/10|c.708C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|5/9|c.708C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|6/9|c.708C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|7/9|c.708C>T||||||,T|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding||c.-275G>A|||||4795|,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding||c.*963C>T|||||546|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.*525C>T|||||1220|,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|6/8|c.688+546C>T||||||,T|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|7/9|n.745C>T||||||,T|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron|7/7|n.708C>T||||||,T|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript|4/4|n.460C>T||||||,T|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript|3/5|n.294C>T||||||,T|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron|1/2|n.44C>T|||||| 22 50316902 . G A . . ANN=A|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|8/11|c.856G>A|p.Glu286Lys|991/1577|856/1209|286/402||,A|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|7/10|c.709G>A|p.Glu237Lys|783/1357|709/1062|237/353||,A|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|7/9|c.709G>A|p.Glu237Lys|746/1230|709/966|237/321||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|5/10|c.709G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|6/10|c.709G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|7/10|c.709G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|5/9|c.709G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|6/9|c.709G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|7/9|c.709G>A||||||,A|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding||c.-275C>T|||||4796|,A|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding||c.*963G>A|||||547|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.*525G>A|||||1221|,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|6/8|c.688+547G>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|7/9|n.746G>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron|7/7|n.709G>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript|4/4|n.461G>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript|3/5|n.295G>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron|1/2|n.45G>A|||||| 22 50316906 . C T . . ANN=T|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|8/11|c.860C>T|p.Pro287Leu|995/1577|860/1209|287/402||,T|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|7/10|c.713C>T|p.Pro238Leu|787/1357|713/1062|238/353||,T|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|7/9|c.713C>T|p.Pro238Leu|750/1230|713/966|238/321||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|5/10|c.713C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|6/10|c.713C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|7/10|c.713C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|5/9|c.713C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|6/9|c.713C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|7/9|c.713C>T||||||,T|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding||c.-275G>A|||||4800|,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding||c.*963C>T|||||551|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.*525C>T|||||1225|,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|6/8|c.688+551C>T||||||,T|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|7/9|n.750C>T||||||,T|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron|7/7|n.713C>T||||||,T|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript|4/4|n.465C>T||||||,T|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript|3/5|n.299C>T||||||,T|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron|1/2|n.49C>T|||||| 22 50316925 . G A . . ANN=A|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|8/11|c.879G>A|p.Ala293Ala|1014/1577|879/1209|293/402||,A|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|7/10|c.732G>A|p.Ala244Ala|806/1357|732/1062|244/353||,A|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|7/9|c.732G>A|p.Ala244Ala|769/1230|732/966|244/321||,A|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding||c.-275C>T|||||4819|,A|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding||c.*963G>A|||||570|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.*525G>A|||||1244|,A|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript||n.*471G>A|||||13|,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|6/8|c.688+570G>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|7/9|n.769G>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron|7/7|n.732G>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript|3/5|n.318G>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron|1/2|n.68G>A|||||| 22 50316984 . T TCTGCACTCCGGGGC . . ANN=CTGCACTCCGGGGC|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000404488|protein_coding|8/11|c.919+19_919+20insCTGCACTCCGGGGC||||||,CTGCACTCCGGGGC|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000404488|protein_coding|9/11|c.919+19_919+20insCTGCACTCCGGGGC||||||,CTGCACTCCGGGGC|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000404488|protein_coding|10/11|c.919+19_919+20insCTGCACTCCGGGGC||||||,CTGCACTCCGGGGC|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000328268|protein_coding|7/10|c.772+19_772+20insCTGCACTCCGGGGC||||||,CTGCACTCCGGGGC|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000328268|protein_coding|8/10|c.772+19_772+20insCTGCACTCCGGGGC||||||,CTGCACTCCGGGGC|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000328268|protein_coding|9/10|c.772+19_772+20insCTGCACTCCGGGGC||||||,CTGCACTCCGGGGC|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding||c.-275_-275dupGCCCCGGAGTGCAG|||||4879|,CTGCACTCCGGGGC|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding||c.*963_*963insCTGCACTCCGGGGC|||||630|WARNING_TRANSCRIPT_INCOMPLETE,CTGCACTCCGGGGC|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.*525_*525insCTGCACTCCGGGGC|||||1304|,CTGCACTCCGGGGC|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript||n.*471_*471insCTGCACTCCGGGGC|||||73|,ACTCCGGGGCCTGC|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|8/10|c.919+24_919+37dupACTCCGGGGCCTGC||||||INFO_REALIGN_3_PRIME,ACTCCGGGGCCTGC|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|7/9|c.772+24_772+37dupACTCCGGGGCCTGC||||||INFO_REALIGN_3_PRIME,ACTCCGGGGCCTGC|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|7/8|n.809+24_809+37dupACTCCGGGGCCTGC||||||INFO_REALIGN_3_PRIME,ACTCCGGGGCCTGC|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|6/8|c.688+634_688+647dupACTCCGGGGCCTGC||||||INFO_REALIGN_3_PRIME,ACTCCGGGGCCTGC|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|7/8|c.772+24_772+37dupACTCCGGGGCCTGC||||||INFO_REALIGN_3_PRIME,ACTCCGGGGCCTGC|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript|3/4|n.358+24_358+37dupACTCCGGGGCCTGC||||||INFO_REALIGN_3_PRIME,ACTCCGGGGCCTGC|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron|7/7|n.796_809dupACTCCGGGGCCTGC||||||INFO_REALIGN_3_PRIME,ACTCCGGGGCCTGC|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron|1/2|n.132_145dupACTCCGGGGCCTGC||||||INFO_REALIGN_3_PRIME 22 50317004 . G A . . ANN=A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000404488|protein_coding|8/11|c.919+39G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000404488|protein_coding|9/11|c.919+39G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000404488|protein_coding|10/11|c.919+39G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000328268|protein_coding|7/10|c.772+39G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000328268|protein_coding|8/10|c.772+39G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000328268|protein_coding|9/10|c.772+39G>A||||||,A|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding||c.-275C>T|||||4898|,A|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding||c.*963G>A|||||649|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.*525G>A|||||1323|,A|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript||n.*471G>A|||||92|,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|8/10|c.919+39G>A||||||,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|7/9|c.772+39G>A||||||,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|7/8|n.809+39G>A||||||,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|6/8|c.688+649G>A||||||,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|7/8|c.772+39G>A||||||,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript|3/4|n.358+39G>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron|7/7|n.811G>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron|1/2|n.147G>A|||||| 22 50317980 . G A . . ANN=A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000404488|protein_coding|8/11|c.920-28G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000404488|protein_coding|9/11|c.920-28G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000404488|protein_coding|10/11|c.920-28G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000328268|protein_coding|7/10|c.773-28G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000328268|protein_coding|8/10|c.773-28G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000328268|protein_coding|9/10|c.773-28G>A||||||,A|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding||c.*963G>A|||||1625|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron||n.*855G>A|||||932|,A|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.*525G>A|||||2299|,A|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript||n.*471G>A|||||1068|,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|8/10|c.920-28G>A||||||,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|7/9|c.773-28G>A||||||,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|7/8|n.810-28G>A||||||,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|6/8|c.689-28G>A||||||,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|7/8|c.772+1015G>A||||||,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript|3/4|n.359-28G>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron|1/2|n.1123G>A|||||| 22 50317989 . C T . . ANN=T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000404488|protein_coding|8/11|c.920-19C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000404488|protein_coding|9/11|c.920-19C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000404488|protein_coding|10/11|c.920-19C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000328268|protein_coding|7/10|c.773-19C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000328268|protein_coding|8/10|c.773-19C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000328268|protein_coding|9/10|c.773-19C>T||||||,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding||c.*963C>T|||||1634|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron||n.*855C>T|||||941|,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.*525C>T|||||2308|,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript||n.*471C>T|||||1077|,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|8/10|c.920-19C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|7/9|c.773-19C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|7/8|n.810-19C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|6/8|c.689-19C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|7/8|c.772+1024C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript|3/4|n.359-19C>T||||||,T|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron|1/2|n.1132C>T|||||| 22 50318061 . G C . . ANN=C|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|9/11|c.973G>C|p.Glu325Gln|1108/1577|973/1209|325/402||,C|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|8/10|c.826G>C|p.Glu276Gln|900/1357|826/1062|276/353||,C|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|7/9|c.742G>C|p.Glu248Gln|779/1242|742/978|248/325||,C|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000404488|protein_coding|8/11|c.973G>C||||||,C|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000404488|protein_coding|9/11|c.973G>C||||||,C|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000404488|protein_coding|10/11|c.973G>C||||||,C|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000328268|protein_coding|7/10|c.826G>C||||||,C|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000328268|protein_coding|8/10|c.826G>C||||||,C|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000328268|protein_coding|9/10|c.826G>C||||||,C|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding||c.*963G>C|||||1706|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron||n.*855G>C|||||1013|,C|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.*525G>C|||||2380|,C|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript||n.*471G>C|||||1149|,C|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|7/8|c.773-1004G>C||||||,C|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|8/9|n.863G>C||||||,C|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript|4/5|n.412G>C||||||,C|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron|1/2|n.1204G>C|||||| 22 50318079 . G A . . ANN=A|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|9/11|c.991G>A|p.Ala331Thr|1126/1577|991/1209|331/402||,A|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|8/10|c.844G>A|p.Ala282Thr|918/1357|844/1062|282/353||,A|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|7/9|c.760G>A|p.Ala254Thr|797/1242|760/978|254/325||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000404488|protein_coding|8/11|c.991G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000404488|protein_coding|9/11|c.991G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000404488|protein_coding|10/11|c.991G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000328268|protein_coding|7/10|c.844G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000328268|protein_coding|8/10|c.844G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000328268|protein_coding|9/10|c.844G>A||||||,A|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding||c.*963G>A|||||1724|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron||n.*855G>A|||||1031|,A|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.*525G>A|||||2398|,A|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript||n.*471G>A|||||1167|,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|7/8|c.773-986G>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|8/9|n.881G>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript|4/5|n.430G>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron|1/2|n.1222G>A|||||| 22 50318090 . C T . . ANN=T|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|9/11|c.1002C>T|p.His334His|1137/1577|1002/1209|334/402||,T|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|8/10|c.855C>T|p.His285His|929/1357|855/1062|285/353||,T|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|7/9|c.771C>T|p.His257His|808/1242|771/978|257/325||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000404488|protein_coding|8/11|c.1002C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000404488|protein_coding|9/11|c.1002C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000404488|protein_coding|10/11|c.1002C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000328268|protein_coding|7/10|c.855C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000328268|protein_coding|8/10|c.855C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000328268|protein_coding|9/10|c.855C>T||||||,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding||c.*963C>T|||||1735|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron||n.*855C>T|||||1042|,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.*525C>T|||||2409|,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript||n.*471C>T|||||1178|,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|7/8|c.773-975C>T||||||,T|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|8/9|n.892C>T||||||,T|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript|4/5|n.441C>T||||||,T|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron|1/2|n.1233C>T|||||| 22 50318091 . G A . . ANN=A|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|9/11|c.1003G>A|p.Gly335Arg|1138/1577|1003/1209|335/402||,A|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|8/10|c.856G>A|p.Gly286Arg|930/1357|856/1062|286/353||,A|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|7/9|c.772G>A|p.Gly258Arg|809/1242|772/978|258/325||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000404488|protein_coding|8/11|c.1003G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000404488|protein_coding|9/11|c.1003G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000404488|protein_coding|10/11|c.1003G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000328268|protein_coding|7/10|c.856G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000328268|protein_coding|8/10|c.856G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000328268|protein_coding|9/10|c.856G>A||||||,A|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding||c.*963G>A|||||1736|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron||n.*855G>A|||||1043|,A|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.*525G>A|||||2410|,A|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript||n.*471G>A|||||1179|,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|7/8|c.773-974G>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|8/9|n.893G>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript|4/5|n.442G>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron|1/2|n.1234G>A|||||| 22 50318128 . C T . . ANN=T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000404488|protein_coding|8/11|c.1015+25C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000404488|protein_coding|9/11|c.1015+25C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000404488|protein_coding|10/11|c.1015+25C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000404488|protein_coding|9/11|c.1015+25C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000404488|protein_coding|10/11|c.1015+25C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000328268|protein_coding|7/10|c.868+25C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000328268|protein_coding|8/10|c.868+25C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000328268|protein_coding|9/10|c.868+25C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000328268|protein_coding|8/10|c.868+25C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000328268|protein_coding|9/10|c.868+25C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000403427|protein_coding|7/9|c.784+25C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000403427|protein_coding|8/9|c.784+25C>T||||||,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding||c.*963C>T|||||1773|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron||n.*855C>T|||||1080|,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.*525C>T|||||2447|,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript||n.*471C>T|||||1216|,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|9/10|c.1015+25C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|8/9|c.868+25C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|8/8|n.905+25C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|7/8|c.784+25C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|7/8|c.773-937C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript|4/4|n.454+25C>T||||||,T|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron|1/2|n.1271C>T|||||| 22 50319017 . G A . . ANN=A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000404488|protein_coding|8/11|c.1016-48G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000404488|protein_coding|9/11|c.1016-48G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000404488|protein_coding|10/11|c.1016-48G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000404488|protein_coding|9/11|c.1016-48G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000404488|protein_coding|10/11|c.1016-48G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000328268|protein_coding|7/10|c.869-48G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000328268|protein_coding|8/10|c.869-48G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000328268|protein_coding|9/10|c.869-48G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000328268|protein_coding|8/10|c.869-48G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000328268|protein_coding|9/10|c.869-48G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000403427|protein_coding|7/9|c.785-48G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000403427|protein_coding|8/9|c.785-48G>A||||||,A|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding||c.*963G>A|||||2662|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron||n.*855G>A|||||1969|,A|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.*525G>A|||||3336|,A|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript||n.*471G>A|||||2105|,A|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript||n.*598G>A|||||240|,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|9/10|c.1016-48G>A||||||,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|8/9|c.869-48G>A||||||,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|8/8|n.906-48G>A||||||,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|7/8|c.785-48G>A||||||,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|7/8|c.773-48G>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron|1/2|n.2160G>A|||||| 22 50319072 . C T . . ANN=T|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|10/11|c.1023C>T|p.Asp341Asp|1158/1577|1023/1209|341/402||,T|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|9/10|c.876C>T|p.Asp292Asp|950/1357|876/1062|292/353||,T|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|8/9|c.792C>T|p.Asp264Asp|829/1242|792/978|264/325||,T|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|8/9|c.780C>T|p.Asp260Asp|817/1230|780/966|260/321||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000404488|protein_coding|8/11|c.1023C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000404488|protein_coding|9/11|c.1023C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000404488|protein_coding|10/11|c.1023C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000404488|protein_coding|9/11|c.1023C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000404488|protein_coding|10/11|c.1023C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000328268|protein_coding|7/10|c.876C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000328268|protein_coding|8/10|c.876C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000328268|protein_coding|9/10|c.876C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000328268|protein_coding|8/10|c.876C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000328268|protein_coding|9/10|c.876C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000403427|protein_coding|7/9|c.792C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000403427|protein_coding|8/9|c.792C>T||||||,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding||c.*963C>T|||||2717|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron||n.*855C>T|||||2024|,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.*525C>T|||||3391|,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript||n.*471C>T|||||2160|,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript||n.*598C>T|||||295|,T|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|9/9|n.913C>T||||||,T|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron|1/2|n.2215C>T|||||| 22 50319078 . C T . . ANN=T|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|10/11|c.1029C>T|p.Cys343Cys|1164/1577|1029/1209|343/402||,T|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|9/10|c.882C>T|p.Cys294Cys|956/1357|882/1062|294/353||,T|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|8/9|c.798C>T|p.Cys266Cys|835/1242|798/978|266/325||,T|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|8/9|c.786C>T|p.Cys262Cys|823/1230|786/966|262/321||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000404488|protein_coding|8/11|c.1029C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000404488|protein_coding|9/11|c.1029C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000404488|protein_coding|10/11|c.1029C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000404488|protein_coding|9/11|c.1029C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000404488|protein_coding|10/11|c.1029C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|disulfide_bond|ENST00000404488|protein_coding|10/11|c.1029C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000328268|protein_coding|7/10|c.882C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000328268|protein_coding|8/10|c.882C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000328268|protein_coding|9/10|c.882C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000328268|protein_coding|8/10|c.882C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000328268|protein_coding|9/10|c.882C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|disulfide_bond|ENST00000328268|protein_coding|9/10|c.882C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000403427|protein_coding|7/9|c.798C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000403427|protein_coding|8/9|c.798C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|disulfide_bond|ENST00000403427|protein_coding|8/9|c.798C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|disulfide_bond|ENST00000407217|protein_coding|8/9|c.786C>T||||||,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding||c.*963C>T|||||2723|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron||n.*855C>T|||||2030|,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.*525C>T|||||3397|,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript||n.*471C>T|||||2166|,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript||n.*598C>T|||||301|,T|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|9/9|n.919C>T||||||,T|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron|1/2|n.2221C>T|||||| 22 50319079 . T G . . ANN=G|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|10/11|c.1030T>G|p.Ser344Ala|1165/1577|1030/1209|344/402||,G|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|9/10|c.883T>G|p.Ser295Ala|957/1357|883/1062|295/353||,G|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|8/9|c.799T>G|p.Ser267Ala|836/1242|799/978|267/325||,G|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|8/9|c.787T>G|p.Ser263Ala|824/1230|787/966|263/321||,G|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000404488|protein_coding|8/11|c.1030T>G||||||,G|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000404488|protein_coding|9/11|c.1030T>G||||||,G|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000404488|protein_coding|10/11|c.1030T>G||||||,G|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000404488|protein_coding|9/11|c.1030T>G||||||,G|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000404488|protein_coding|10/11|c.1030T>G||||||,G|sequence_feature|LOW|CRELD2|ENSG00000184164|disulfide_bond|ENST00000404488|protein_coding|10/11|c.1030T>G||||||,G|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000328268|protein_coding|7/10|c.883T>G||||||,G|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000328268|protein_coding|8/10|c.883T>G||||||,G|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000328268|protein_coding|9/10|c.883T>G||||||,G|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000328268|protein_coding|8/10|c.883T>G||||||,G|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000328268|protein_coding|9/10|c.883T>G||||||,G|sequence_feature|LOW|CRELD2|ENSG00000184164|disulfide_bond|ENST00000328268|protein_coding|9/10|c.883T>G||||||,G|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000403427|protein_coding|7/9|c.799T>G||||||,G|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000403427|protein_coding|8/9|c.799T>G||||||,G|sequence_feature|LOW|CRELD2|ENSG00000184164|disulfide_bond|ENST00000403427|protein_coding|8/9|c.799T>G||||||,G|sequence_feature|LOW|CRELD2|ENSG00000184164|disulfide_bond|ENST00000407217|protein_coding|8/9|c.787T>G||||||,G|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding||c.*963T>G|||||2724|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron||n.*855T>G|||||2031|,G|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.*525T>G|||||3398|,G|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript||n.*471T>G|||||2167|,G|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript||n.*598T>G|||||302|,G|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|9/9|n.920T>G||||||,G|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron|1/2|n.2222T>G|||||| 22 50319102 . G A . . ANN=A|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|10/11|c.1053G>A|p.Val351Val|1188/1577|1053/1209|351/402||,A|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|9/10|c.906G>A|p.Val302Val|980/1357|906/1062|302/353||,A|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|8/9|c.822G>A|p.Val274Val|859/1242|822/978|274/325||,A|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|8/9|c.810G>A|p.Val270Val|847/1230|810/966|270/321||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000404488|protein_coding|8/11|c.1053G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000404488|protein_coding|9/11|c.1053G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000404488|protein_coding|10/11|c.1053G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000404488|protein_coding|9/11|c.1053G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000404488|protein_coding|10/11|c.1053G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|disulfide_bond|ENST00000404488|protein_coding|10/11|c.1053G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000328268|protein_coding|7/10|c.906G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000328268|protein_coding|8/10|c.906G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000328268|protein_coding|9/10|c.906G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000328268|protein_coding|8/10|c.906G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000328268|protein_coding|9/10|c.906G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|disulfide_bond|ENST00000328268|protein_coding|9/10|c.906G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000403427|protein_coding|7/9|c.822G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000403427|protein_coding|8/9|c.822G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|disulfide_bond|ENST00000403427|protein_coding|8/9|c.822G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|disulfide_bond|ENST00000407217|protein_coding|8/9|c.810G>A||||||,A|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding||c.*963G>A|||||2747|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron||n.*855G>A|||||2054|,A|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.*525G>A|||||3421|,A|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript||n.*471G>A|||||2190|,A|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript||n.*598G>A|||||325|,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|9/9|n.943G>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron|1/2|n.2245G>A|||||| 22 50319135 . G C . . ANN=C|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|10/11|c.1086G>C|p.Gly362Gly|1221/1577|1086/1209|362/402||,C|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|9/10|c.939G>C|p.Gly313Gly|1013/1357|939/1062|313/353||,C|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|8/9|c.855G>C|p.Gly285Gly|892/1242|855/978|285/325||,C|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|8/9|c.843G>C|p.Gly281Gly|880/1230|843/966|281/321||,C|TF_binding_site_variant|LOW|||EBF|MA0154.1|||||||||,C|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000404488|protein_coding|9/11|c.1086G>C||||||,C|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000404488|protein_coding|10/11|c.1086G>C||||||,C|sequence_feature|LOW|CRELD2|ENSG00000184164|disulfide_bond|ENST00000404488|protein_coding|10/11|c.1086G>C||||||,C|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000328268|protein_coding|8/10|c.939G>C||||||,C|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000328268|protein_coding|9/10|c.939G>C||||||,C|sequence_feature|LOW|CRELD2|ENSG00000184164|disulfide_bond|ENST00000328268|protein_coding|9/10|c.939G>C||||||,C|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000403427|protein_coding|7/9|c.855G>C||||||,C|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000403427|protein_coding|8/9|c.855G>C||||||,C|sequence_feature|LOW|CRELD2|ENSG00000184164|disulfide_bond|ENST00000403427|protein_coding|8/9|c.855G>C||||||,C|sequence_feature|LOW|CRELD2|ENSG00000184164|disulfide_bond|ENST00000407217|protein_coding|8/9|c.843G>C||||||,C|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding||c.*963G>C|||||2780|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron||n.*855G>C|||||2087|,C|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.*525G>C|||||3454|,C|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript||n.*471G>C|||||2223|,C|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript||n.*598G>C|||||358|,C|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|9/9|n.976G>C||||||,C|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron|1/2|n.2278G>C|||||| 22 50319141 . C T . . ANN=T|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|10/11|c.1092C>T|p.Tyr364Tyr|1227/1577|1092/1209|364/402||,T|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|9/10|c.945C>T|p.Tyr315Tyr|1019/1357|945/1062|315/353||,T|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|8/9|c.861C>T|p.Tyr287Tyr|898/1242|861/978|287/325||,T|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|8/9|c.849C>T|p.Tyr283Tyr|886/1230|849/966|283/321||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000404488|protein_coding|9/11|c.1092C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000404488|protein_coding|10/11|c.1092C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|disulfide_bond|ENST00000404488|protein_coding|10/11|c.1092C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000328268|protein_coding|8/10|c.945C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000328268|protein_coding|9/10|c.945C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|disulfide_bond|ENST00000328268|protein_coding|9/10|c.945C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000403427|protein_coding|7/9|c.861C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000403427|protein_coding|8/9|c.861C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|disulfide_bond|ENST00000403427|protein_coding|8/9|c.861C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|disulfide_bond|ENST00000407217|protein_coding|8/9|c.849C>T||||||,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding||c.*963C>T|||||2786|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron||n.*855C>T|||||2093|,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.*525C>T|||||3460|,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript||n.*471C>T|||||2229|,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript||n.*598C>T|||||364|,T|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|9/9|n.982C>T||||||,T|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron|1/2|n.2284C>T|||||| 22 50319159 . C T . . ANN=T|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|10/11|c.1110C>T|p.Asp370Asp|1245/1577|1110/1209|370/402||,T|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|9/10|c.963C>T|p.Asp321Asp|1037/1357|963/1062|321/353||,T|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|8/9|c.879C>T|p.Asp293Asp|916/1242|879/978|293/325||,T|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|8/9|c.867C>T|p.Asp289Asp|904/1230|867/966|289/321||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000404488|protein_coding|9/11|c.1110C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000404488|protein_coding|10/11|c.1110C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|disulfide_bond|ENST00000404488|protein_coding|10/11|c.1110C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000328268|protein_coding|8/10|c.963C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000328268|protein_coding|9/10|c.963C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|disulfide_bond|ENST00000328268|protein_coding|9/10|c.963C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000403427|protein_coding|7/9|c.879C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000403427|protein_coding|8/9|c.879C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|disulfide_bond|ENST00000403427|protein_coding|8/9|c.879C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|disulfide_bond|ENST00000407217|protein_coding|8/9|c.867C>T||||||,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding||c.*963C>T|||||2804|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron||n.*855C>T|||||2111|,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.*525C>T|||||3478|,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript||n.*471C>T|||||2247|,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript||n.*598C>T|||||382|,T|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|9/9|n.1000C>T||||||,T|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron|1/2|n.2302C>T|||||| 22 50319170 . A G . . ANN=G|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|10/11|c.1121A>G|p.Glu374Gly|1256/1577|1121/1209|374/402||,G|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|9/10|c.974A>G|p.Glu325Gly|1048/1357|974/1062|325/353||,G|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|8/9|c.890A>G|p.Glu297Gly|927/1242|890/978|297/325||,G|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|8/9|c.878A>G|p.Glu293Gly|915/1230|878/966|293/321||,G|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000404488|protein_coding|9/11|c.1121A>G||||||,G|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000404488|protein_coding|10/11|c.1121A>G||||||,G|sequence_feature|LOW|CRELD2|ENSG00000184164|disulfide_bond|ENST00000404488|protein_coding|10/11|c.1121A>G||||||,G|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000328268|protein_coding|8/10|c.974A>G||||||,G|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000328268|protein_coding|9/10|c.974A>G||||||,G|sequence_feature|LOW|CRELD2|ENSG00000184164|disulfide_bond|ENST00000328268|protein_coding|9/10|c.974A>G||||||,G|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000403427|protein_coding|7/9|c.890A>G||||||,G|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000403427|protein_coding|8/9|c.890A>G||||||,G|sequence_feature|LOW|CRELD2|ENSG00000184164|disulfide_bond|ENST00000403427|protein_coding|8/9|c.890A>G||||||,G|sequence_feature|LOW|CRELD2|ENSG00000184164|disulfide_bond|ENST00000407217|protein_coding|8/9|c.878A>G||||||,G|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding||c.*963A>G|||||2815|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron||n.*855A>G|||||2122|,G|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.*525A>G|||||3489|,G|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript||n.*471A>G|||||2258|,G|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript||n.*598A>G|||||393|,G|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|9/9|n.1011A>G||||||,G|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron|1/2|n.2313A>G|||||| 22 50319174 . G A . . ANN=A|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|10/11|c.1125G>A|p.Thr375Thr|1260/1577|1125/1209|375/402||,A|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|9/10|c.978G>A|p.Thr326Thr|1052/1357|978/1062|326/353||,A|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|8/9|c.894G>A|p.Thr298Thr|931/1242|894/978|298/325||,A|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|8/9|c.882G>A|p.Thr294Thr|919/1230|882/966|294/321||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000404488|protein_coding|9/11|c.1125G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000404488|protein_coding|10/11|c.1125G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|disulfide_bond|ENST00000404488|protein_coding|10/11|c.1125G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000328268|protein_coding|8/10|c.978G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000328268|protein_coding|9/10|c.978G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|disulfide_bond|ENST00000328268|protein_coding|9/10|c.978G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000403427|protein_coding|7/9|c.894G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000403427|protein_coding|8/9|c.894G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|disulfide_bond|ENST00000403427|protein_coding|8/9|c.894G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|disulfide_bond|ENST00000407217|protein_coding|8/9|c.882G>A||||||,A|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding||c.*963G>A|||||2819|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron||n.*855G>A|||||2126|,A|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.*525G>A|||||3493|,A|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript||n.*471G>A|||||2262|,A|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript||n.*598G>A|||||397|,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|9/9|n.1015G>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron|1/2|n.2317G>A|||||| 22 50319193 . C T . . ANN=T|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|10/11|c.1144C>T|p.Pro382Ser|1279/1577|1144/1209|382/402||,T|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|9/10|c.997C>T|p.Pro333Ser|1071/1357|997/1062|333/353||,T|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|8/9|c.913C>T|p.Pro305Ser|950/1242|913/978|305/325||,T|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|8/9|c.901C>T|p.Pro301Ser|938/1230|901/966|301/321||,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding||c.*963C>T|||||2838|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron||n.*855C>T|||||2145|,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.*525C>T|||||3512|,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript||n.*471C>T|||||2281|,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript||n.*598C>T|||||416|,T|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|9/9|n.1034C>T||||||,T|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron|1/2|n.2336C>T|||||| 22 50319216 . C T . . ANN=T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding||c.*963C>T|||||2861|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron||n.*855C>T|||||2168|,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.*525C>T|||||3535|,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript||n.*471C>T|||||2304|,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript||n.*598C>T|||||439|,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|10/10|c.1156+11C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|9/9|c.1009+11C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|8/8|c.925+11C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|8/8|c.913+11C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron|1/1|n.2348+11C>T||||||,T|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|9/9|n.1057C>T|||||| 22 50319223 . C T . . ANN=T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding||c.*963C>T|||||2868|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron||n.*855C>T|||||2175|,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.*525C>T|||||3542|,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript||n.*471C>T|||||2311|,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript||n.*598C>T|||||446|,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|10/10|c.1156+18C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|9/9|c.1009+18C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|8/8|c.925+18C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|8/8|c.913+18C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron|1/1|n.2348+18C>T||||||,T|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|9/9|n.1064C>T|||||| 22 50319231 . C T . . ANN=T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding||c.*963C>T|||||2876|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron||n.*855C>T|||||2183|,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.*525C>T|||||3550|,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript||n.*471C>T|||||2319|,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript||n.*598C>T|||||454|,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|10/10|c.1156+26C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|9/9|c.1009+26C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|8/8|c.925+26C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|8/8|c.913+26C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron|1/1|n.2348+26C>T||||||,T|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|9/9|n.1072C>T|||||| 22 50320853 . C T . . ANN=T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding||c.*963C>T|||||4498|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron||n.*1994C>T|||||700|,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron||n.*855C>T|||||3805|,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript||n.*471C>T|||||3941|,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript||n.*598C>T|||||2076|,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|10/10|c.1157-50C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|9/9|c.1010-50C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|8/8|c.926-50C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|8/8|c.914-50C>T||||||,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron|1/1|n.2349-50C>T|||||| 22 50320943 . C T . . ANN=T|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|11/11|c.1197C>T|p.Arg399Arg|1332/1577|1197/1209|399/402||,T|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|10/10|c.1050C>T|p.Arg350Arg|1124/1357|1050/1062|350/353||,T|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|9/9|c.966C>T|p.Arg322Arg|1003/1242|966/978|322/325||,T|synonymous_variant|LOW|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|9/9|c.954C>T|p.Arg318Arg|991/1230|954/966|318/321||,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding||c.*963C>T|||||4588|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron||n.*1994C>T|||||790|,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron||n.*855C>T|||||3895|,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript||n.*471C>T|||||4031|,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript||n.*598C>T|||||2166|,T|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron|2/2|n.2389C>T|||||| 22 50320994 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|11/11|c.*39C>T|||||39|,T|3_prime_UTR_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|10/10|c.*39C>T|||||39|,T|3_prime_UTR_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|9/9|c.*39C>T|||||39|,T|3_prime_UTR_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|9/9|c.*39C>T|||||39|,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding||c.*963C>T|||||4639|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron||n.*1994C>T|||||841|,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron||n.*855C>T|||||3946|,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript||n.*471C>T|||||4082|,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript||n.*598C>T|||||2217|,T|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron|2/2|n.2440C>T|||||| 22 50354558 . G T . . ANN=T|TF_binding_site_variant|LOW|||Ap2alpha|MA0003.1|||||||||,T|5_prime_UTR_variant|MODIFIER|PIM3|ENSG00000198355|transcript|ENST00000360612|protein_coding|1/6|c.-38G>T|||||38|,T|non_coding_exon_variant|MODIFIER|PIM3|ENSG00000198355|transcript|ENST00000467480|retained_intron|1/3|n.143G>T|||||| 22 50354819 . C A . . ANN=A|synonymous_variant|LOW|PIM3|ENSG00000198355|transcript|ENST00000360612|protein_coding|2/6|c.132C>A|p.Ala44Ala|567/2369|132/981|44/326||,A|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|3/6|c.132C>A||||||,A|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|4/6|c.132C>A||||||,A|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|2/6|c.132C>A||||||,A|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|6/6|c.132C>A||||||,A|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|5/6|c.132C>A||||||,A|non_coding_exon_variant|MODIFIER|PIM3|ENSG00000198355|transcript|ENST00000467480|retained_intron|1/3|n.404C>A|||||| 22 50355407 . C T . . ANN=T|synonymous_variant|LOW|PIM3|ENSG00000198355|transcript|ENST00000360612|protein_coding|4/6|c.564C>T|p.Ile188Ile|999/2369|564/981|188/326||,T|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|3/6|c.564C>T||||||,T|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|4/6|c.564C>T||||||,T|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|2/6|c.564C>T||||||,T|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|6/6|c.564C>T||||||,T|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|5/6|c.564C>T||||||,T|downstream_gene_variant|MODIFIER|PIM3|ENSG00000198355|transcript|ENST00000467480|retained_intron||n.*723C>T|||||113| 22 50356293 . G C . . ANN=C|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|3/6|c.617-44G>C||||||,C|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|4/6|c.617-44G>C||||||,C|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|2/6|c.617-44G>C||||||,C|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|6/6|c.617-44G>C||||||,C|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|5/6|c.617-44G>C||||||,C|downstream_gene_variant|MODIFIER|PIM3|ENSG00000198355|transcript|ENST00000467480|retained_intron||n.*723G>C|||||999|,C|intron_variant|MODIFIER|PIM3|ENSG00000198355|transcript|ENST00000360612|protein_coding|4/5|c.617-44G>C|||||| 22 50356302 . C T . . ANN=T|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|3/6|c.617-35C>T||||||,T|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|4/6|c.617-35C>T||||||,T|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|2/6|c.617-35C>T||||||,T|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|6/6|c.617-35C>T||||||,T|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|5/6|c.617-35C>T||||||,T|downstream_gene_variant|MODIFIER|PIM3|ENSG00000198355|transcript|ENST00000467480|retained_intron||n.*723C>T|||||1008|,T|intron_variant|MODIFIER|PIM3|ENSG00000198355|transcript|ENST00000360612|protein_coding|4/5|c.617-35C>T|||||| 22 50356313 . G C . . ANN=C|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|3/6|c.617-24G>C||||||,C|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|4/6|c.617-24G>C||||||,C|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|2/6|c.617-24G>C||||||,C|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|6/6|c.617-24G>C||||||,C|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|5/6|c.617-24G>C||||||,C|downstream_gene_variant|MODIFIER|PIM3|ENSG00000198355|transcript|ENST00000467480|retained_intron||n.*723G>C|||||1019|,C|intron_variant|MODIFIER|PIM3|ENSG00000198355|transcript|ENST00000360612|protein_coding|4/5|c.617-24G>C|||||| 22 50356330 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|PIM3|ENSG00000198355|transcript|ENST00000360612|protein_coding|4/5|c.617-7C>T||||||,T|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|3/6|c.617-7C>T||||||,T|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|4/6|c.617-7C>T||||||,T|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|2/6|c.617-7C>T||||||,T|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|6/6|c.617-7C>T||||||,T|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|5/6|c.617-7C>T||||||,T|downstream_gene_variant|MODIFIER|PIM3|ENSG00000198355|transcript|ENST00000467480|retained_intron||n.*723C>T|||||1036| 22 50356367 . TCCGCTACCA T . . ANN=|inframe_deletion|MODERATE|PIM3|ENSG00000198355|transcript|ENST00000360612|protein_coding|5/6|c.658_666delCGCTACCAC|p.Arg220_His222del|1093/2369|658/981|220/326||INFO_REALIGN_3_PRIME,|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|3/6|c.648_656delCCGCTACCA||||||,|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|4/6|c.648_656delCCGCTACCA||||||,|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|2/6|c.648_656delCCGCTACCA||||||,|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|6/6|c.648_656delCCGCTACCA||||||,|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|5/6|c.648_656delCCGCTACCA||||||,|downstream_gene_variant|MODIFIER|PIM3|ENSG00000198355|transcript|ENST00000467480|retained_intron||n.*723_*723delCCGCTACCA|||||1074| 22 50356368 . C T . . ANN=T|synonymous_variant|LOW|PIM3|ENSG00000198355|transcript|ENST00000360612|protein_coding|5/6|c.648C>T|p.Ile216Ile|1083/2369|648/981|216/326||,T|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|3/6|c.648C>T||||||,T|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|4/6|c.648C>T||||||,T|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|2/6|c.648C>T||||||,T|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|6/6|c.648C>T||||||,T|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|5/6|c.648C>T||||||,T|downstream_gene_variant|MODIFIER|PIM3|ENSG00000198355|transcript|ENST00000467480|retained_intron||n.*723C>T|||||1074| 22 50356386 . C T . . ANN=T|synonymous_variant|LOW|PIM3|ENSG00000198355|transcript|ENST00000360612|protein_coding|5/6|c.666C>T|p.His222His|1101/2369|666/981|222/326||,T|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|3/6|c.666C>T||||||,T|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|4/6|c.666C>T||||||,T|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|2/6|c.666C>T||||||,T|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|6/6|c.666C>T||||||,T|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|5/6|c.666C>T||||||,T|downstream_gene_variant|MODIFIER|PIM3|ENSG00000198355|transcript|ENST00000467480|retained_intron||n.*723C>T|||||1092| 22 50356473 . C T . . ANN=T|synonymous_variant|LOW|PIM3|ENSG00000198355|transcript|ENST00000360612|protein_coding|5/6|c.753C>T|p.Ile251Ile|1188/2369|753/981|251/326||,T|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|3/6|c.753C>T||||||,T|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|4/6|c.753C>T||||||,T|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|2/6|c.753C>T||||||,T|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|6/6|c.753C>T||||||,T|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|5/6|c.753C>T||||||,T|downstream_gene_variant|MODIFIER|PIM3|ENSG00000198355|transcript|ENST00000467480|retained_intron||n.*723C>T|||||1179| 22 50356497 . G A . . ANN=A|synonymous_variant|LOW|PIM3|ENSG00000198355|transcript|ENST00000360612|protein_coding|5/6|c.777G>A|p.Arg259Arg|1212/2369|777/981|259/326||,A|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|3/6|c.777G>A||||||,A|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|4/6|c.777G>A||||||,A|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|2/6|c.777G>A||||||,A|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|6/6|c.777G>A||||||,A|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|5/6|c.777G>A||||||,A|downstream_gene_variant|MODIFIER|PIM3|ENSG00000198355|transcript|ENST00000467480|retained_intron||n.*723G>A|||||1203| 22 50356503 . G A . . ANN=A|synonymous_variant|LOW|PIM3|ENSG00000198355|transcript|ENST00000360612|protein_coding|5/6|c.783G>A|p.Arg261Arg|1218/2369|783/981|261/326||,A|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|3/6|c.783G>A||||||,A|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|4/6|c.783G>A||||||,A|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|2/6|c.783G>A||||||,A|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|6/6|c.783G>A||||||,A|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|5/6|c.783G>A||||||,A|downstream_gene_variant|MODIFIER|PIM3|ENSG00000198355|transcript|ENST00000467480|retained_intron||n.*723G>A|||||1209| 22 50356506 . C G . . ANN=G|synonymous_variant|LOW|PIM3|ENSG00000198355|transcript|ENST00000360612|protein_coding|5/6|c.786C>G|p.Val262Val|1221/2369|786/981|262/326||,G|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|3/6|c.786C>G||||||,G|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|4/6|c.786C>G||||||,G|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|2/6|c.786C>G||||||,G|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|6/6|c.786C>G||||||,G|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|5/6|c.786C>G||||||,G|downstream_gene_variant|MODIFIER|PIM3|ENSG00000198355|transcript|ENST00000467480|retained_intron||n.*723C>G|||||1212| 22 50356555 . T C . . ANN=C|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|3/6|c.794-33T>C||||||,C|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|4/6|c.794-33T>C||||||,C|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|2/6|c.794-33T>C||||||,C|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|6/6|c.794-33T>C||||||,C|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|5/6|c.794-33T>C||||||,C|downstream_gene_variant|MODIFIER|PIM3|ENSG00000198355|transcript|ENST00000467480|retained_intron||n.*723T>C|||||1261|,C|intron_variant|MODIFIER|PIM3|ENSG00000198355|transcript|ENST00000360612|protein_coding|5/5|c.794-33T>C|||||| 22 50356570 . C T . . ANN=T|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|3/6|c.794-18C>T||||||,T|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|4/6|c.794-18C>T||||||,T|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|2/6|c.794-18C>T||||||,T|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|6/6|c.794-18C>T||||||,T|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|5/6|c.794-18C>T||||||,T|downstream_gene_variant|MODIFIER|PIM3|ENSG00000198355|transcript|ENST00000467480|retained_intron||n.*723C>T|||||1276|,T|intron_variant|MODIFIER|PIM3|ENSG00000198355|transcript|ENST00000360612|protein_coding|5/5|c.794-18C>T|||||| 22 50356658 . G A . . ANN=A|synonymous_variant|LOW|PIM3|ENSG00000198355|transcript|ENST00000360612|protein_coding|6/6|c.864G>A|p.Ala288Ala|1299/2369|864/981|288/326||,A|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|3/6|c.864G>A||||||,A|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|4/6|c.864G>A||||||,A|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|2/6|c.864G>A||||||,A|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|6/6|c.864G>A||||||,A|sequence_feature|LOW|PIM3|ENSG00000198355|domain:Protein_kinase|ENST00000360612|protein_coding|5/6|c.864G>A||||||,A|downstream_gene_variant|MODIFIER|PIM3|ENSG00000198355|transcript|ENST00000467480|retained_intron||n.*723G>A|||||1364| 22 50356693 . T C . . ANN=C|missense_variant|MODERATE|PIM3|ENSG00000198355|transcript|ENST00000360612|protein_coding|6/6|c.899T>C|p.Val300Ala|1334/2369|899/981|300/326||,C|downstream_gene_variant|MODIFIER|PIM3|ENSG00000198355|transcript|ENST00000467480|retained_intron||n.*723T>C|||||1399| 22 50356731 . C T . . ANN=T|missense_variant|MODERATE|PIM3|ENSG00000198355|transcript|ENST00000360612|protein_coding|6/6|c.937C>T|p.Pro313Ser|1372/2369|937/981|313/326||,T|downstream_gene_variant|MODIFIER|PIM3|ENSG00000198355|transcript|ENST00000467480|retained_intron||n.*723C>T|||||1437| 22 50356811 . G T . . ANN=T|3_prime_UTR_variant|MODIFIER|PIM3|ENSG00000198355|transcript|ENST00000360612|protein_coding|6/6|c.*36G>T|||||36|,T|downstream_gene_variant|MODIFIER|PIM3|ENSG00000198355|transcript|ENST00000467480|retained_intron||n.*723G>T|||||1517| 22 50435480 . A G . . ANN=G|missense_variant|MODERATE|IL17REL|ENSG00000188263|transcript|ENST00000341280|protein_coding|12/13|c.998T>C|p.Leu333Pro|1095/3500|998/1011|333/336||,G|missense_variant|MODERATE|IL17REL|ENSG00000188263|transcript|ENST00000389983|protein_coding|14/15|c.998T>C|p.Leu333Pro|1263/3668|998/1011|333/336|| 22 50435723 . G A . . ANN=A|intron_variant|MODIFIER|IL17REL|ENSG00000188263|transcript|ENST00000341280|protein_coding|11/12|c.974+26C>T||||||,A|intron_variant|MODIFIER|IL17REL|ENSG00000188263|transcript|ENST00000389983|protein_coding|13/14|c.974+26C>T|||||| 22 50435733 . C T . . ANN=T|intron_variant|MODIFIER|IL17REL|ENSG00000188263|transcript|ENST00000341280|protein_coding|11/12|c.974+16G>A||||||,T|intron_variant|MODIFIER|IL17REL|ENSG00000188263|transcript|ENST00000389983|protein_coding|13/14|c.974+16G>A|||||| 22 50435784 . G A . . ANN=A|synonymous_variant|LOW|IL17REL|ENSG00000188263|transcript|ENST00000341280|protein_coding|11/13|c.939C>T|p.Asn313Asn|1036/3500|939/1011|313/336||,A|synonymous_variant|LOW|IL17REL|ENSG00000188263|transcript|ENST00000389983|protein_coding|13/15|c.939C>T|p.Asn313Asn|1204/3668|939/1011|313/336|| 22 50435827 . C T . . ANN=T|missense_variant|MODERATE|IL17REL|ENSG00000188263|transcript|ENST00000341280|protein_coding|11/13|c.896G>A|p.Cys299Tyr|993/3500|896/1011|299/336||,T|missense_variant|MODERATE|IL17REL|ENSG00000188263|transcript|ENST00000389983|protein_coding|13/15|c.896G>A|p.Cys299Tyr|1161/3668|896/1011|299/336|| 22 50436211 . T C . . ANN=C|intron_variant|MODIFIER|IL17REL|ENSG00000188263|transcript|ENST00000341280|protein_coding|9/12|c.820-40A>G||||||,C|intron_variant|MODIFIER|IL17REL|ENSG00000188263|transcript|ENST00000389983|protein_coding|11/14|c.820-40A>G|||||| 22 50436212 . G T . . ANN=T|intron_variant|MODIFIER|IL17REL|ENSG00000188263|transcript|ENST00000341280|protein_coding|9/12|c.820-41C>A||||||,T|intron_variant|MODIFIER|IL17REL|ENSG00000188263|transcript|ENST00000389983|protein_coding|11/14|c.820-41C>A|||||| 22 50436215 . A G . . ANN=G|intron_variant|MODIFIER|IL17REL|ENSG00000188263|transcript|ENST00000341280|protein_coding|9/12|c.820-44T>C||||||,G|intron_variant|MODIFIER|IL17REL|ENSG00000188263|transcript|ENST00000389983|protein_coding|11/14|c.820-44T>C|||||| 22 50436488 . G A . . ANN=A|missense_variant|MODERATE|IL17REL|ENSG00000188263|transcript|ENST00000341280|protein_coding|9/13|c.785C>T|p.Pro262Leu|882/3500|785/1011|262/336||,A|missense_variant|MODERATE|IL17REL|ENSG00000188263|transcript|ENST00000389983|protein_coding|11/15|c.785C>T|p.Pro262Leu|1050/3668|785/1011|262/336|| 22 50436546 . C T . . ANN=T|intron_variant|MODIFIER|IL17REL|ENSG00000188263|transcript|ENST00000341280|protein_coding|8/12|c.774+20G>A||||||,T|intron_variant|MODIFIER|IL17REL|ENSG00000188263|transcript|ENST00000389983|protein_coding|10/14|c.774+20G>A|||||| 22 50436553 . A C . . ANN=C|intron_variant|MODIFIER|IL17REL|ENSG00000188263|transcript|ENST00000341280|protein_coding|8/12|c.774+13T>G||||||,C|intron_variant|MODIFIER|IL17REL|ENSG00000188263|transcript|ENST00000389983|protein_coding|10/14|c.774+13T>G|||||| 22 50436571 . G A . . ANN=A|missense_variant|MODERATE|IL17REL|ENSG00000188263|transcript|ENST00000341280|protein_coding|8/13|c.769C>T|p.Arg257Cys|866/3500|769/1011|257/336||,A|missense_variant|MODERATE|IL17REL|ENSG00000188263|transcript|ENST00000389983|protein_coding|10/15|c.769C>T|p.Arg257Cys|1034/3668|769/1011|257/336|| 22 50436604 . G C . . ANN=C|missense_variant|MODERATE|IL17REL|ENSG00000188263|transcript|ENST00000341280|protein_coding|8/13|c.736C>G|p.Arg246Gly|833/3500|736/1011|246/336||,C|missense_variant|MODERATE|IL17REL|ENSG00000188263|transcript|ENST00000389983|protein_coding|10/15|c.736C>G|p.Arg246Gly|1001/3668|736/1011|246/336|| 22 50437711 . G T . . ANN=T|intron_variant|MODIFIER|IL17REL|ENSG00000188263|transcript|ENST00000341280|protein_coding|7/12|c.601+9C>A||||||,T|intron_variant|MODIFIER|IL17REL|ENSG00000188263|transcript|ENST00000389983|protein_coding|9/14|c.601+9C>A|||||| 22 50437747 . G C . . ANN=C|missense_variant|MODERATE|IL17REL|ENSG00000188263|transcript|ENST00000341280|protein_coding|7/13|c.574C>G|p.Arg192Gly|671/3500|574/1011|192/336||,C|missense_variant|MODERATE|IL17REL|ENSG00000188263|transcript|ENST00000389983|protein_coding|9/15|c.574C>G|p.Arg192Gly|839/3668|574/1011|192/336|| 22 50437784 . G C . . ANN=C|intron_variant|MODIFIER|IL17REL|ENSG00000188263|transcript|ENST00000341280|protein_coding|6/12|c.547-10C>G||||||,C|intron_variant|MODIFIER|IL17REL|ENSG00000188263|transcript|ENST00000389983|protein_coding|8/14|c.547-10C>G|||||| 22 50437814 . T A . . ANN=A|intron_variant|MODIFIER|IL17REL|ENSG00000188263|transcript|ENST00000341280|protein_coding|6/12|c.547-40A>T||||||,A|intron_variant|MODIFIER|IL17REL|ENSG00000188263|transcript|ENST00000389983|protein_coding|8/14|c.547-40A>T|||||| 22 50437830 . G A . . ANN=A|intron_variant|MODIFIER|IL17REL|ENSG00000188263|transcript|ENST00000341280|protein_coding|6/12|c.546+30C>T||||||,A|intron_variant|MODIFIER|IL17REL|ENSG00000188263|transcript|ENST00000389983|protein_coding|8/14|c.546+30C>T|||||| 22 50437841 . A T . . ANN=T|intron_variant|MODIFIER|IL17REL|ENSG00000188263|transcript|ENST00000341280|protein_coding|6/12|c.546+19T>A||||||,T|intron_variant|MODIFIER|IL17REL|ENSG00000188263|transcript|ENST00000389983|protein_coding|8/14|c.546+19T>A|||||| 22 50437949 . C T . . ANN=T|intron_variant|MODIFIER|IL17REL|ENSG00000188263|transcript|ENST00000341280|protein_coding|5/12|c.475-18G>A||||||,T|intron_variant|MODIFIER|IL17REL|ENSG00000188263|transcript|ENST00000389983|protein_coding|7/14|c.475-18G>A|||||| 22 50437976 . G T . . ANN=T|intron_variant|MODIFIER|IL17REL|ENSG00000188263|transcript|ENST00000341280|protein_coding|5/12|c.475-45C>A||||||,T|intron_variant|MODIFIER|IL17REL|ENSG00000188263|transcript|ENST00000389983|protein_coding|7/14|c.475-45C>A|||||| 22 50438279 . T C . . ANN=C|missense_variant|MODERATE|IL17REL|ENSG00000188263|transcript|ENST00000341280|protein_coding|5/13|c.452A>G|p.Glu151Gly|549/3500|452/1011|151/336||,C|missense_variant|MODERATE|IL17REL|ENSG00000188263|transcript|ENST00000389983|protein_coding|7/15|c.452A>G|p.Glu151Gly|717/3668|452/1011|151/336|| 22 50438379 . A C . . ANN=C|missense_variant|MODERATE|IL17REL|ENSG00000188263|transcript|ENST00000341280|protein_coding|5/13|c.352T>G|p.Trp118Gly|449/3500|352/1011|118/336||,C|missense_variant|MODERATE|IL17REL|ENSG00000188263|transcript|ENST00000389983|protein_coding|7/15|c.352T>G|p.Trp118Gly|617/3668|352/1011|118/336|| 22 50438918 . T C . . ANN=C|missense_variant|MODERATE|IL17REL|ENSG00000188263|transcript|ENST00000341280|protein_coding|4/13|c.323A>G|p.His108Arg|420/3500|323/1011|108/336||,C|missense_variant|MODERATE|IL17REL|ENSG00000188263|transcript|ENST00000389983|protein_coding|6/15|c.323A>G|p.His108Arg|588/3668|323/1011|108/336|| 22 50439194 . C T . . ANN=T|missense_variant|MODERATE|IL17REL|ENSG00000188263|transcript|ENST00000341280|protein_coding|3/13|c.208G>A|p.Gly70Arg|305/3500|208/1011|70/336||,T|missense_variant|MODERATE|IL17REL|ENSG00000188263|transcript|ENST00000389983|protein_coding|5/15|c.208G>A|p.Gly70Arg|473/3668|208/1011|70/336|| 22 50439202 . C T . . ANN=T|missense_variant|MODERATE|IL17REL|ENSG00000188263|transcript|ENST00000341280|protein_coding|3/13|c.200G>A|p.Arg67Gln|297/3500|200/1011|67/336||,T|missense_variant|MODERATE|IL17REL|ENSG00000188263|transcript|ENST00000389983|protein_coding|5/15|c.200G>A|p.Arg67Gln|465/3668|200/1011|67/336|| 22 50439203 . G A . . ANN=A|missense_variant|MODERATE|IL17REL|ENSG00000188263|transcript|ENST00000341280|protein_coding|3/13|c.199C>T|p.Arg67Trp|296/3500|199/1011|67/336||,A|missense_variant|MODERATE|IL17REL|ENSG00000188263|transcript|ENST00000389983|protein_coding|5/15|c.199C>T|p.Arg67Trp|464/3668|199/1011|67/336|| 22 50439240 . C T . . ANN=T|synonymous_variant|LOW|IL17REL|ENSG00000188263|transcript|ENST00000341280|protein_coding|3/13|c.162G>A|p.Thr54Thr|259/3500|162/1011|54/336||,T|synonymous_variant|LOW|IL17REL|ENSG00000188263|transcript|ENST00000389983|protein_coding|5/15|c.162G>A|p.Thr54Thr|427/3668|162/1011|54/336|| 22 50439284 . G A . . ANN=A|missense_variant|MODERATE|IL17REL|ENSG00000188263|transcript|ENST00000341280|protein_coding|3/13|c.118C>T|p.Arg40Trp|215/3500|118/1011|40/336||,A|missense_variant|MODERATE|IL17REL|ENSG00000188263|transcript|ENST00000389983|protein_coding|5/15|c.118C>T|p.Arg40Trp|383/3668|118/1011|40/336|| 22 50439496 . G A . . ANN=A|intron_variant|MODIFIER|IL17REL|ENSG00000188263|transcript|ENST00000341280|protein_coding|2/12|c.109+15C>T||||||,A|intron_variant|MODIFIER|IL17REL|ENSG00000188263|transcript|ENST00000389983|protein_coding|4/14|c.109+15C>T|||||| 22 50439626 . G A . . ANN=A|5_prime_UTR_premature_start_codon_gain_variant|LOW|IL17REL|ENSG00000188263|transcript|ENST00000341280|protein_coding|2/13|c.-7C>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|IL17REL|ENSG00000188263|transcript|ENST00000389983|protein_coding|4/15|c.-7C>T||||||,A|5_prime_UTR_variant|MODIFIER|IL17REL|ENSG00000188263|transcript|ENST00000341280|protein_coding|2/13|c.-7C>T|||||7|,A|5_prime_UTR_variant|MODIFIER|IL17REL|ENSG00000188263|transcript|ENST00000389983|protein_coding|4/15|c.-7C>T|||||7| 22 50439637 . G A . . ANN=A|5_prime_UTR_premature_start_codon_gain_variant|LOW|IL17REL|ENSG00000188263|transcript|ENST00000341280|protein_coding|2/13|c.-18C>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|IL17REL|ENSG00000188263|transcript|ENST00000389983|protein_coding|4/15|c.-18C>T||||||,A|5_prime_UTR_variant|MODIFIER|IL17REL|ENSG00000188263|transcript|ENST00000341280|protein_coding|2/13|c.-18C>T|||||18|,A|5_prime_UTR_variant|MODIFIER|IL17REL|ENSG00000188263|transcript|ENST00000389983|protein_coding|4/15|c.-18C>T|||||18| 22 50454825 . A G . . ANN=G|upstream_gene_variant|MODIFIER|IL17REL|ENSG00000188263|transcript|ENST00000389983|protein_coding||c.-266T>C|||||3737|,G|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|13/13|c.2392+26T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|13/13|c.2344+26T>C||||||,G|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|12/12|c.2284+26T>C|||||| 22 50454855 . G T . . ANN=T|synonymous_variant|LOW|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|13/14|c.2388C>A|p.Gly796Gly|2388/2549|2388/2549|796/848||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|13/14|c.2340C>A|p.Gly780Gly|2340/2505|2340/2505|780/834||,T|synonymous_variant|LOW|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|12/13|c.2280C>A|p.Gly760Gly|2280/2445|2280/2445|760/814||,T|upstream_gene_variant|MODIFIER|IL17REL|ENSG00000188263|transcript|ENST00000389983|protein_coding||c.-266C>A|||||3767| 22 50454859 . A T . . ANN=T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|13/14|c.2384T>A|p.Met795Lys|2384/2549|2384/2549|795/848||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|13/14|c.2336T>A|p.Met779Lys|2336/2505|2336/2505|779/834||,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|12/13|c.2276T>A|p.Met759Lys|2276/2445|2276/2445|759/814||,T|upstream_gene_variant|MODIFIER|IL17REL|ENSG00000188263|transcript|ENST00000389983|protein_coding||c.-266T>A|||||3771| 22 50454933 . C G . . ANN=G|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|13/14|c.2310G>C|p.Gln770His|2310/2549|2310/2549|770/848||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|13/14|c.2262G>C|p.Gln754His|2262/2505|2262/2505|754/834||,G|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|12/13|c.2202G>C|p.Gln734His|2202/2445|2202/2445|734/814||,G|upstream_gene_variant|MODIFIER|IL17REL|ENSG00000188263|transcript|ENST00000389983|protein_coding||c.-266G>C|||||3845| 22 50454962 . G C . . ANN=C|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|13/14|c.2281C>G|p.His761Asp|2281/2549|2281/2549|761/848||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|13/14|c.2233C>G|p.His745Asp|2233/2505|2233/2505|745/834||,C|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|12/13|c.2173C>G|p.His725Asp|2173/2445|2173/2445|725/814||,C|upstream_gene_variant|MODIFIER|IL17REL|ENSG00000188263|transcript|ENST00000389983|protein_coding||c.-266C>G|||||3874| 22 50455014 . G A . . ANN=A|upstream_gene_variant|MODIFIER|IL17REL|ENSG00000188263|transcript|ENST00000389983|protein_coding||c.-266C>T|||||3926|,A|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|12/13|c.2252-23C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|12/13|c.2204-23C>T||||||,A|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|11/12|c.2144-23C>T|||||| 22 50468819 . G A . . ANN=A|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|12/13|c.2251+40C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|12/13|c.2203+40C>T||||||,A|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|11/12|c.2143+40C>T|||||| 22 50468873 . G A . . ANN=A|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|12/14|c.2237C>T|p.Pro746Leu|2237/2549|2237/2549|746/848||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|12/14|c.2189C>T|p.Pro730Leu|2189/2505|2189/2505|730/834||,A|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|11/13|c.2129C>T|p.Pro710Leu|2129/2445|2129/2445|710/814|| 22 50468907 . C T . . ANN=T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|12/14|c.2203G>A|p.Gly735Ser|2203/2549|2203/2549|735/848||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|12/14|c.2155G>A|p.Gly719Ser|2155/2505|2155/2505|719/834||,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|11/13|c.2095G>A|p.Gly699Ser|2095/2445|2095/2445|699/814|| 22 50468933 . G T . . ANN=T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|12/14|c.2177C>A|p.Ala726Glu|2177/2549|2177/2549|726/848||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|12/14|c.2129C>A|p.Ala710Glu|2129/2505|2129/2505|710/834||,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|11/13|c.2069C>A|p.Ala690Glu|2069/2445|2069/2445|690/814|| 22 50468977 . G A . . ANN=A|synonymous_variant|LOW|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|12/14|c.2133C>T|p.Pro711Pro|2133/2549|2133/2549|711/848||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|12/14|c.2085C>T|p.Pro695Pro|2085/2505|2085/2505|695/834||,A|synonymous_variant|LOW|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|11/13|c.2025C>T|p.Pro675Pro|2025/2445|2025/2445|675/814|| 22 50468991 . T C . . ANN=C|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|12/14|c.2119A>G|p.Asn707Asp|2119/2549|2119/2549|707/848||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|12/14|c.2071A>G|p.Asn691Asp|2071/2505|2071/2505|691/834||,C|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|11/13|c.2011A>G|p.Asn671Asp|2011/2445|2011/2445|671/814|| 22 50469215 . G T . . ANN=T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|12/14|c.1895C>A|p.Ala632Glu|1895/2549|1895/2549|632/848||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|12/14|c.1847C>A|p.Ala616Glu|1847/2505|1847/2505|616/834||,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|11/13|c.1787C>A|p.Ala596Glu|1787/2445|1787/2445|596/814|| 22 50470102 . G A . . ANN=A|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|11/13|c.1755+13C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|11/13|c.1707+13C>T||||||,A|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|10/12|c.1647+13C>T|||||| 22 50470155 . C T . . ANN=T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|11/14|c.1715G>A|p.Arg572His|1715/2549|1715/2549|572/848||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|11/14|c.1667G>A|p.Arg556His|1667/2505|1667/2505|556/834||,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|10/13|c.1607G>A|p.Arg536His|1607/2445|1607/2445|536/814|| 22 50470162 . C T . . ANN=T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|11/14|c.1708G>A|p.Val570Met|1708/2549|1708/2549|570/848||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|11/14|c.1660G>A|p.Val554Met|1660/2505|1660/2505|554/834||,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|10/13|c.1600G>A|p.Val534Met|1600/2445|1600/2445|534/814|| 22 50470176 . G C . . ANN=C|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|11/14|c.1694C>G|p.Thr565Ser|1694/2549|1694/2549|565/848||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|11/14|c.1646C>G|p.Thr549Ser|1646/2505|1646/2505|549/834||,C|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|10/13|c.1586C>G|p.Thr529Ser|1586/2445|1586/2445|529/814|| 22 50470196 . A G . . ANN=G|synonymous_variant|LOW|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|11/14|c.1674T>C|p.Cys558Cys|1674/2549|1674/2549|558/848||WARNING_TRANSCRIPT_INCOMPLETE,G|synonymous_variant|LOW|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|11/14|c.1626T>C|p.Cys542Cys|1626/2505|1626/2505|542/834||,G|synonymous_variant|LOW|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|10/13|c.1566T>C|p.Cys522Cys|1566/2445|1566/2445|522/814|| 22 50470215 . G A . . ANN=A|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|11/14|c.1655C>T|p.Pro552Leu|1655/2549|1655/2549|552/848||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|11/14|c.1607C>T|p.Pro536Leu|1607/2505|1607/2505|536/834||,A|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|10/13|c.1547C>T|p.Pro516Leu|1547/2445|1547/2445|516/814|| 22 50470291 . C T . . ANN=T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|11/14|c.1579G>A|p.Asp527Asn|1579/2549|1579/2549|527/848||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|11/14|c.1531G>A|p.Asp511Asn|1531/2505|1531/2505|511/834||,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|10/13|c.1471G>A|p.Asp491Asn|1471/2445|1471/2445|491/814|| 22 50470514 . G A . . ANN=A|synonymous_variant|LOW|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|11/14|c.1356C>T|p.Ala452Ala|1356/2549|1356/2549|452/848||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|11/14|c.1308C>T|p.Ala436Ala|1308/2505|1308/2505|436/834||,A|synonymous_variant|LOW|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|10/13|c.1248C>T|p.Ala416Ala|1248/2445|1248/2445|416/814|| 22 50470516 . C T . . ANN=T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|11/14|c.1354G>A|p.Ala452Thr|1354/2549|1354/2549|452/848||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|11/14|c.1306G>A|p.Ala436Thr|1306/2505|1306/2505|436/834||,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|10/13|c.1246G>A|p.Ala416Thr|1246/2445|1246/2445|416/814|| 22 50471620 . AC A . . ANN=|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|10/13|c.1331+10delG||||||WARNING_TRANSCRIPT_INCOMPLETE,|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|10/13|c.1283+10delG||||||,|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|9/12|c.1223+10delG|||||| 22 50471646 . A G . . ANN=G|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|10/14|c.1316T>C|p.Leu439Pro|1316/2549|1316/2549|439/848||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|10/14|c.1268T>C|p.Leu423Pro|1268/2505|1268/2505|423/834||,G|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|9/13|c.1208T>C|p.Leu403Pro|1208/2445|1208/2445|403/814|| 22 50471685 . T C . . ANN=C|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|10/14|c.1277A>G|p.Lys426Arg|1277/2549|1277/2549|426/848||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|10/14|c.1229A>G|p.Lys410Arg|1229/2505|1229/2505|410/834||,C|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|9/13|c.1169A>G|p.Lys390Arg|1169/2445|1169/2445|390/814|| 22 50471771 . C T . . ANN=T|synonymous_variant|LOW|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|10/14|c.1191G>A|p.Thr397Thr|1191/2549|1191/2549|397/848||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|10/14|c.1143G>A|p.Thr381Thr|1143/2505|1143/2505|381/834||,T|synonymous_variant|LOW|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|9/13|c.1083G>A|p.Thr361Thr|1083/2445|1083/2445|361/814|| 22 50472743 . G T . . ANN=T|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|9/13|c.1087+43C>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|9/13|c.1039+31C>A||||||,T|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|8/12|c.979+43C>A|||||| 22 50472838 . G A . . ANN=A|synonymous_variant|LOW|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|9/14|c.1035C>T|p.Asp345Asp|1035/2549|1035/2549|345/848||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|9/14|c.975C>T|p.Asp325Asp|975/2505|975/2505|325/834||,A|synonymous_variant|LOW|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|8/13|c.927C>T|p.Asp309Asp|927/2445|927/2445|309/814|| 22 50472865 . C T . . ANN=T|synonymous_variant|LOW|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|9/14|c.1008G>A|p.Thr336Thr|1008/2549|1008/2549|336/848||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|9/14|c.948G>A|p.Thr316Thr|948/2505|948/2505|316/834||,T|synonymous_variant|LOW|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|8/13|c.900G>A|p.Thr300Thr|900/2445|900/2445|300/814|| 22 50472908 . C A . . ANN=A|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|9/14|c.965G>T|p.Arg322Ile|965/2549|965/2549|322/848||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|8/13|c.857G>T|p.Arg286Ile|857/2445|857/2445|286/814||,A|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|8/13|c.922-17G>T|||||| 22 50479676 . G A . . ANN=A|synonymous_variant|LOW|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|8/14|c.861C>T|p.Cys287Cys|861/2505|861/2505|287/834||,A|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|8/13|c.938+374C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|7/12|c.830+374C>T|||||| 22 50479680 . A G . . ANN=G|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|8/14|c.857T>C|p.Leu286Ser|857/2505|857/2505|286/834||,G|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|8/13|c.938+370T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|7/12|c.830+370T>C|||||| 22 50479753 . C T . . ANN=T|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|8/13|c.938+297G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|7/13|c.831-47G>A||||||,T|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|7/12|c.830+297G>A|||||| 22 50480002 . T C . . ANN=C|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|8/13|c.938+48A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|7/13|c.830+48A>G||||||,C|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|7/12|c.830+48A>G|||||| 22 50480054 . C T . . ANN=T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|8/14|c.934G>A|p.Val312Ile|934/2549|934/2549|312/848||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|7/14|c.826G>A|p.Val276Ile|826/2505|826/2505|276/834||,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|7/13|c.826G>A|p.Val276Ile|826/2445|826/2445|276/814|| 22 50480073 . G A . . ANN=A|synonymous_variant|LOW|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|8/14|c.915C>T|p.Thr305Thr|915/2549|915/2549|305/848||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|7/14|c.807C>T|p.Thr269Thr|807/2505|807/2505|269/834||,A|synonymous_variant|LOW|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|7/13|c.807C>T|p.Thr269Thr|807/2445|807/2445|269/814|| 22 50480108 . C T . . ANN=T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|8/14|c.880G>A|p.Glu294Lys|880/2549|880/2549|294/848||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|7/14|c.772G>A|p.Glu258Lys|772/2505|772/2505|258/834||,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|7/13|c.772G>A|p.Glu258Lys|772/2445|772/2445|258/814|| 22 50483671 . C T . . ANN=T|downstream_gene_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000477219|processed_transcript||n.*308G>A|||||1926|,T|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|7/13|c.751+13G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|6/13|c.643+13G>A||||||,T|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|6/12|c.643+13G>A|||||| 22 50483672 . G A . . ANN=A|downstream_gene_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000477219|processed_transcript||n.*308C>T|||||1925|,A|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|7/13|c.751+12C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|6/13|c.643+12C>T||||||,A|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|6/12|c.643+12C>T|||||| 22 50483826 . G C . . ANN=C|splice_region_variant&intron_variant|LOW|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|6/13|c.617-8C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|splice_region_variant&intron_variant|LOW|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|5/13|c.509-8C>G||||||,C|splice_region_variant&intron_variant|LOW|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|5/12|c.509-8C>G||||||,C|downstream_gene_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000477219|processed_transcript||n.*308C>G|||||1771| 22 50483850 . T C . . ANN=C|downstream_gene_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000477219|processed_transcript||n.*308A>G|||||1747|,C|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|6/13|c.617-32A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|5/13|c.509-32A>G||||||,C|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|5/12|c.509-32A>G|||||| 22 50484271 . G A . . ANN=A|downstream_gene_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000477219|processed_transcript||n.*308C>T|||||1326|,A|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|6/13|c.616+14C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|5/13|c.508+14C>T||||||,A|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|5/12|c.508+14C>T|||||| 22 50484329 . C T . . ANN=T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|6/14|c.572G>A|p.Arg191His|572/2549|572/2549|191/848||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|5/14|c.464G>A|p.Arg155His|464/2505|464/2505|155/834||,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|5/13|c.464G>A|p.Arg155His|464/2445|464/2445|155/814||,T|downstream_gene_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000477219|processed_transcript||n.*308G>A|||||1268| 22 50484343 . G T . . ANN=T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|6/14|c.558C>A|p.Asp186Glu|558/2549|558/2549|186/848||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|5/14|c.450C>A|p.Asp150Glu|450/2505|450/2505|150/834||,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|5/13|c.450C>A|p.Asp150Glu|450/2445|450/2445|150/814||,T|downstream_gene_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000477219|processed_transcript||n.*308C>A|||||1254| 22 50484345 . C T . . ANN=T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|6/14|c.556G>A|p.Asp186Asn|556/2549|556/2549|186/848||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|5/14|c.448G>A|p.Asp150Asn|448/2505|448/2505|150/834||,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|5/13|c.448G>A|p.Asp150Asn|448/2445|448/2445|150/814||,T|downstream_gene_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000477219|processed_transcript||n.*308G>A|||||1252| 22 50484353 . GC G . . ANN=|frameshift_variant|HIGH|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|6/14|c.547delG|p.Ala183fs|547/2549|547/2549|183/848||WARNING_TRANSCRIPT_INCOMPLETE,|frameshift_variant|HIGH|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|5/14|c.439delG|p.Ala147fs|439/2505|439/2505|147/834||,|frameshift_variant|HIGH|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|5/13|c.439delG|p.Ala147fs|439/2445|439/2445|147/814||,|downstream_gene_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000477219|processed_transcript||n.*308delG|||||1243|;LOF=(TTLL8|ENSG00000138892|4|0.75) 22 50484405 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|5/13|c.502-6C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|splice_region_variant&intron_variant|LOW|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|4/13|c.394-6C>T||||||,A|splice_region_variant&intron_variant|LOW|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|4/12|c.394-6C>T||||||,A|downstream_gene_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000477219|processed_transcript||n.*308C>T|||||1192| 22 50485701 . G C . . ANN=C|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|5/14|c.397C>G|p.Pro133Ala|397/2549|397/2549|133/848||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|4/14|c.289C>G|p.Pro97Ala|289/2505|289/2505|97/834||,C|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|4/13|c.289C>G|p.Pro97Ala|289/2445|289/2445|97/814||,C|non_coding_exon_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000477219|processed_transcript|3/3|n.204C>G|||||| 22 50485718 . A C . . ANN=C|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|5/14|c.380T>G|p.Leu127Trp|380/2549|380/2549|127/848||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|4/14|c.272T>G|p.Leu91Trp|272/2505|272/2505|91/834||,C|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|4/13|c.272T>G|p.Leu91Trp|272/2445|272/2445|91/814||,C|splice_region_variant&non_coding_exon_variant|LOW|TTLL8|ENSG00000138892|transcript|ENST00000477219|processed_transcript|3/3|n.187T>G|||||| 22 50487660 . C T . . ANN=T|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|4/13|c.372+18G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|3/13|c.264+18G>A||||||,T|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|3/12|c.264+18G>A||||||,T|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000477219|processed_transcript|2/2|n.184+18G>A|||||| 22 50487661 . G A . . ANN=A|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|4/13|c.372+17C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|3/13|c.264+17C>T||||||,A|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|3/12|c.264+17C>T||||||,A|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000477219|processed_transcript|2/2|n.184+17C>T|||||| 22 50487683 . C T . . ANN=T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|4/14|c.367G>A|p.Val123Met|367/2549|367/2549|123/848||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|3/14|c.259G>A|p.Val87Met|259/2505|259/2505|87/834||,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|3/13|c.259G>A|p.Val87Met|259/2445|259/2445|87/814||,T|non_coding_exon_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000477219|processed_transcript|2/3|n.179G>A|||||| 22 50487790 . T C . . ANN=C|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|3/13|c.299-39A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|2/13|c.191-39A>G||||||,C|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|2/12|c.191-39A>G||||||,C|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000477219|processed_transcript|1/2|n.111-39A>G|||||| 22 50488502 . C T . . ANN=T|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|3/13|c.298+36G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|2/13|c.190+36G>A||||||,T|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|2/12|c.190+36G>A||||||,T|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000477219|processed_transcript|1/2|n.110+36G>A|||||| 22 50488527 . C T . . ANN=T|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|3/13|c.298+11G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|2/13|c.190+11G>A||||||,T|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|2/12|c.190+11G>A||||||,T|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000477219|processed_transcript|1/2|n.110+11G>A|||||| 22 50488528 . G A . . ANN=A|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|3/13|c.298+10C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|2/13|c.190+10C>T||||||,A|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|2/12|c.190+10C>T||||||,A|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000477219|processed_transcript|1/2|n.110+10C>T|||||| 22 50488533 . G T . . ANN=T|splice_region_variant&intron_variant|LOW|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|3/13|c.298+5C>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|splice_region_variant&intron_variant|LOW|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|2/13|c.190+5C>A||||||,T|splice_region_variant&intron_variant|LOW|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|2/12|c.190+5C>A||||||,T|splice_region_variant&intron_variant|LOW|TTLL8|ENSG00000138892|transcript|ENST00000477219|processed_transcript|1/2|n.110+5C>A|||||| 22 50488547 . G A . . ANN=A|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|3/14|c.289C>T|p.Arg97Trp|289/2549|289/2549|97/848||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|2/14|c.181C>T|p.Arg61Trp|181/2505|181/2505|61/834||,A|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|2/13|c.181C>T|p.Arg61Trp|181/2445|181/2445|61/814||,A|non_coding_exon_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000477219|processed_transcript|1/3|n.101C>T|||||| 22 50488562 . C T . . ANN=T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|3/14|c.274G>A|p.Glu92Lys|274/2549|274/2549|92/848||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|2/14|c.166G>A|p.Glu56Lys|166/2505|166/2505|56/834||,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|2/13|c.166G>A|p.Glu56Lys|166/2445|166/2445|56/814||,T|non_coding_exon_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000477219|processed_transcript|1/3|n.86G>A|||||| 22 50488628 . C T . . ANN=T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|3/14|c.208G>A|p.Ala70Thr|208/2549|208/2549|70/848||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|2/14|c.100G>A|p.Ala34Thr|100/2505|100/2505|34/834||,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|2/13|c.100G>A|p.Ala34Thr|100/2445|100/2445|34/814||,T|non_coding_exon_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000477219|processed_transcript|1/3|n.20G>A|||||| 22 50488642 . G A . . ANN=A|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|3/14|c.194C>T|p.Pro65Leu|194/2549|194/2549|65/848||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|2/14|c.86C>T|p.Pro29Leu|86/2505|86/2505|29/834||,A|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|2/13|c.86C>T|p.Pro29Leu|86/2445|86/2445|29/814||,A|non_coding_exon_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000477219|processed_transcript|1/3|n.6C>T|||||| 22 50492955 . T TGGAG . . ANN=GGAG|upstream_gene_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000477219|processed_transcript||n.-1_-1dupCTCC|||||4309|,GGAG|downstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding||c.*1741_*1741dupCTCC|||||4864|,GGAG|downstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding||c.*1409_*1409dupCTCC|||||4864|,GGAG|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|2/13|c.159+704_159+707dupCTCC||||||WARNING_TRANSCRIPT_INCOMPLETE,GGAG|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|1/13|c.51+46_51+49dupCTCC||||||,GGAG|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|1/12|c.51+46_51+49dupCTCC|||||| 22 50492970 . C T . . ANN=T|upstream_gene_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000477219|processed_transcript||n.-1G>A|||||4323|,T|downstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding||c.*1741G>A|||||4850|,T|downstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding||c.*1409G>A|||||4850|,T|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|2/13|c.159+693G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|1/13|c.51+35G>A||||||,T|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|1/12|c.51+35G>A|||||| 22 50493008 . G A . . ANN=A|synonymous_variant|LOW|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|1/14|c.48C>T|p.Ala16Ala|48/2505|48/2505|16/834||,A|synonymous_variant|LOW|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|1/13|c.48C>T|p.Ala16Ala|48/2445|48/2445|16/814||,A|upstream_gene_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000477219|processed_transcript||n.-1C>T|||||4361|,A|downstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding||c.*1741C>T|||||4812|,A|downstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding||c.*1409C>T|||||4812|,A|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|2/13|c.159+655C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50493062 . T C . . ANN=C|upstream_gene_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding||c.-1A>G|||||7|,C|upstream_gene_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding||c.-1A>G|||||7|,C|upstream_gene_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000477219|processed_transcript||n.-1A>G|||||4415|,C|downstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding||c.*1741A>G|||||4758|,C|downstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding||c.*1409A>G|||||4758|,C|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|2/13|c.159+601A>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50493072 . A G . . ANN=G|upstream_gene_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding||c.-1T>C|||||17|,G|upstream_gene_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding||c.-1T>C|||||17|,G|upstream_gene_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000477219|processed_transcript||n.-1T>C|||||4425|,G|downstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding||c.*1741T>C|||||4748|,G|downstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding||c.*1409T>C|||||4748|,G|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|2/13|c.159+591T>C||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50493074 . C A . . ANN=A|upstream_gene_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding||c.-1G>T|||||19|,A|upstream_gene_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding||c.-1G>T|||||19|,A|upstream_gene_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000477219|processed_transcript||n.-1G>T|||||4427|,A|downstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding||c.*1741G>T|||||4746|,A|downstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding||c.*1409G>T|||||4746|,A|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|2/13|c.159+589G>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50499964 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|12/12|c.*48A>G|||||48|,C|3_prime_UTR_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|12/12|c.*48A>G|||||48|,C|3_prime_UTR_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|11/11|c.*48A>G|||||48|,C|3_prime_UTR_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|11/11|c.*48A>G|||||48|,C|3_prime_UTR_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|11/11|c.*48A>G|||||48|,C|3_prime_UTR_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|10/10|c.*48A>G|||||48|,C|upstream_gene_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding||c.-1A>G|||||4600|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000483836|processed_transcript|5/5|n.539A>G|||||| 22 50499965 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|12/12|c.*47C>T|||||47|,A|3_prime_UTR_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|12/12|c.*47C>T|||||47|,A|3_prime_UTR_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|11/11|c.*47C>T|||||47|,A|3_prime_UTR_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|11/11|c.*47C>T|||||47|,A|3_prime_UTR_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|11/11|c.*47C>T|||||47|,A|3_prime_UTR_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|10/10|c.*47C>T|||||47|,A|upstream_gene_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding||c.-1C>T|||||4601|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000483836|processed_transcript|5/5|n.538C>T|||||| 22 50499993 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|12/12|c.*19G>A|||||19|,T|3_prime_UTR_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|12/12|c.*19G>A|||||19|,T|3_prime_UTR_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|11/11|c.*19G>A|||||19|,T|3_prime_UTR_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|11/11|c.*19G>A|||||19|,T|3_prime_UTR_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|11/11|c.*19G>A|||||19|,T|3_prime_UTR_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|10/10|c.*19G>A|||||19|,T|upstream_gene_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding||c.-1G>A|||||4629|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000483836|processed_transcript|5/5|n.510G>A|||||| 22 50500000 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|12/12|c.*12G>A|||||12|,T|3_prime_UTR_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|12/12|c.*12G>A|||||12|,T|3_prime_UTR_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|11/11|c.*12G>A|||||12|,T|3_prime_UTR_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|11/11|c.*12G>A|||||12|,T|3_prime_UTR_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|11/11|c.*12G>A|||||12|,T|3_prime_UTR_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|10/10|c.*12G>A|||||12|,T|upstream_gene_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding||c.-1G>A|||||4636|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000483836|processed_transcript|5/5|n.503G>A|||||| 22 50500032 . C T . . ANN=T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|12/12|c.1114G>A|p.Val372Met|1721/3933|1114/1134|372/377||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|12/12|c.1114G>A|p.Val372Met|1389/3601|1114/1134|372/377||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|11/11|c.1012G>A|p.Val338Met|1108/1656|1012/1032|338/343||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|11/11|c.1024G>A|p.Val342Met|1154/1594|1024/1044|342/347||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|11/11|c.877G>A|p.Val293Met|1001/1336|877/897|293/298||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|10/10|c.958G>A|p.Val320Met|1138/1287|958/978|320/325||,T|upstream_gene_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding||c.-1G>A|||||4668|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000483836|processed_transcript|5/5|n.471G>A|||||| 22 50502447 . C T . . ANN=T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|11/11|c.1059+16G>A||||||,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|11/11|c.1059+16G>A||||||,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|10/10|c.957+16G>A||||||,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|10/10|c.969+16G>A||||||,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|10/10|c.822+16G>A||||||,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|9/9|c.903+16G>A||||||,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000483836|processed_transcript|4/4|n.416+16G>A|||||| 22 50502448 . CTG C . . ANN=|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|11/11|c.1059+13_1059+14delCA||||||,|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|11/11|c.1059+13_1059+14delCA||||||,|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|10/10|c.957+13_957+14delCA||||||,|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|10/10|c.969+13_969+14delCA||||||,|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|10/10|c.822+13_822+14delCA||||||,|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|9/9|c.903+13_903+14delCA||||||,|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000483836|processed_transcript|4/4|n.416+13_416+14delCA|||||| 22 50502451 . C T . . ANN=T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|11/11|c.1059+12G>A||||||,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|11/11|c.1059+12G>A||||||,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|10/10|c.957+12G>A||||||,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|10/10|c.969+12G>A||||||,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|10/10|c.822+12G>A||||||,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|9/9|c.903+12G>A||||||,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000483836|processed_transcript|4/4|n.416+12G>A|||||| 22 50502490 . G A . . ANN=A|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|11/12|c.1032C>T|p.Asn344Asn|1639/3933|1032/1134|344/377||,A|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|11/12|c.1032C>T|p.Asn344Asn|1307/3601|1032/1134|344/377||,A|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|10/11|c.930C>T|p.Asn310Asn|1026/1656|930/1032|310/343||,A|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|10/11|c.942C>T|p.Asn314Asn|1072/1594|942/1044|314/347||,A|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|10/11|c.795C>T|p.Asn265Asn|919/1336|795/897|265/298||,A|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|9/10|c.876C>T|p.Asn292Asn|1056/1287|876/978|292/325||,A|non_coding_exon_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000483836|processed_transcript|4/5|n.389C>T|||||| 22 50502491 . T C . . ANN=C|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|11/12|c.1031A>G|p.Asn344Ser|1638/3933|1031/1134|344/377||,C|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|11/12|c.1031A>G|p.Asn344Ser|1306/3601|1031/1134|344/377||,C|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|10/11|c.929A>G|p.Asn310Ser|1025/1656|929/1032|310/343||,C|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|10/11|c.941A>G|p.Asn314Ser|1071/1594|941/1044|314/347||,C|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|10/11|c.794A>G|p.Asn265Ser|918/1336|794/897|265/298||,C|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|9/10|c.875A>G|p.Asn292Ser|1055/1287|875/978|292/325||,C|non_coding_exon_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000483836|processed_transcript|4/5|n.388A>G|||||| 22 50502496 . G C . . ANN=C|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|11/12|c.1026C>G|p.Thr342Thr|1633/3933|1026/1134|342/377||,C|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|11/12|c.1026C>G|p.Thr342Thr|1301/3601|1026/1134|342/377||,C|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|10/11|c.924C>G|p.Thr308Thr|1020/1656|924/1032|308/343||,C|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|10/11|c.936C>G|p.Thr312Thr|1066/1594|936/1044|312/347||,C|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|10/11|c.789C>G|p.Thr263Thr|913/1336|789/897|263/298||,C|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|9/10|c.870C>G|p.Thr290Thr|1050/1287|870/978|290/325||,C|non_coding_exon_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000483836|processed_transcript|4/5|n.383C>G|||||| 22 50502526 . A G . . ANN=G|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|11/12|c.996T>C|p.Ser332Ser|1603/3933|996/1134|332/377||,G|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|11/12|c.996T>C|p.Ser332Ser|1271/3601|996/1134|332/377||,G|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|10/11|c.894T>C|p.Ser298Ser|990/1656|894/1032|298/343||,G|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|10/11|c.906T>C|p.Ser302Ser|1036/1594|906/1044|302/347||,G|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|10/11|c.759T>C|p.Ser253Ser|883/1336|759/897|253/298||,G|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|9/10|c.840T>C|p.Ser280Ser|1020/1287|840/978|280/325||,G|non_coding_exon_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000483836|processed_transcript|4/5|n.353T>C|||||| 22 50502544 . G A . . ANN=A|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|11/12|c.978C>T|p.Cys326Cys|1585/3933|978/1134|326/377||,A|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|11/12|c.978C>T|p.Cys326Cys|1253/3601|978/1134|326/377||,A|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|10/11|c.876C>T|p.Cys292Cys|972/1656|876/1032|292/343||,A|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|10/11|c.888C>T|p.Cys296Cys|1018/1594|888/1044|296/347||,A|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|10/11|c.741C>T|p.Cys247Cys|865/1336|741/897|247/298||,A|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|9/10|c.822C>T|p.Cys274Cys|1002/1287|822/978|274/325||,A|non_coding_exon_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000483836|processed_transcript|4/5|n.335C>T|||||| 22 50502556 . G A . . ANN=A|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|11/12|c.966C>T|p.Thr322Thr|1573/3933|966/1134|322/377||,A|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|11/12|c.966C>T|p.Thr322Thr|1241/3601|966/1134|322/377||,A|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|10/11|c.864C>T|p.Thr288Thr|960/1656|864/1032|288/343||,A|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|10/11|c.876C>T|p.Thr292Thr|1006/1594|876/1044|292/347||,A|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|10/11|c.729C>T|p.Thr243Thr|853/1336|729/897|243/298||,A|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|9/10|c.810C>T|p.Thr270Thr|990/1287|810/978|270/325||,A|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000395876|protein_coding|11/12|c.966C>T||||||,A|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000431262|protein_coding|10/11|c.876C>T||||||,A|non_coding_exon_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000483836|processed_transcript|4/5|n.323C>T|||||| 22 50502590 . A T . . ANN=T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|11/12|c.932T>A|p.Val311Glu|1539/3933|932/1134|311/377||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|11/12|c.932T>A|p.Val311Glu|1207/3601|932/1134|311/377||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|10/11|c.830T>A|p.Val277Glu|926/1656|830/1032|277/343||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|10/11|c.842T>A|p.Val281Glu|972/1594|842/1044|281/347||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|10/11|c.695T>A|p.Val232Glu|819/1336|695/897|232/298||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|9/10|c.776T>A|p.Val259Glu|956/1287|776/978|259/325||,T|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000395876|protein_coding|11/12|c.932T>A||||||,T|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000431262|protein_coding|10/11|c.842T>A||||||,T|non_coding_exon_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000483836|processed_transcript|4/5|n.289T>A|||||| 22 50506936 . T C . . ANN=C|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|10/12|c.820A>G|p.Thr274Ala|1427/3933|820/1134|274/377||,C|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|10/12|c.820A>G|p.Thr274Ala|1095/3601|820/1134|274/377||,C|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|9/11|c.718A>G|p.Thr240Ala|814/1656|718/1032|240/343||,C|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|9/11|c.730A>G|p.Thr244Ala|860/1594|730/1044|244/347||,C|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|9/11|c.583A>G|p.Thr195Ala|707/1336|583/897|195/298||,C|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|8/10|c.664A>G|p.Thr222Ala|844/1287|664/978|222/325||,C|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000395876|protein_coding|10/12|c.820A>G||||||,C|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000395876|protein_coding|9/12|c.820A>G||||||,C|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000431262|protein_coding|9/11|c.730A>G||||||,C|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000431262|protein_coding|8/11|c.730A>G||||||,C|downstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000442311|protein_coding||c.*758A>G|||||2032|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000470008|processed_transcript||n.*236A>G|||||2035|,C|non_coding_exon_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000483836|processed_transcript|3/5|n.177A>G|||||| 22 50507009 . G A . . ANN=A|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000395876|protein_coding|10/12|c.772-25C>T||||||,A|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000395876|protein_coding|9/12|c.772-25C>T||||||,A|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000431262|protein_coding|9/11|c.682-25C>T||||||,A|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000431262|protein_coding|8/11|c.682-25C>T||||||,A|downstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000442311|protein_coding||c.*758C>T|||||1959|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000470008|processed_transcript||n.*236C>T|||||1962|,A|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|9/11|c.772-25C>T||||||,A|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|9/11|c.772-25C>T||||||,A|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|8/10|c.670-25C>T||||||,A|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|8/10|c.682-25C>T||||||,A|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|8/10|c.535-25C>T||||||,A|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|7/9|c.616-25C>T||||||,A|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000483836|processed_transcript|2/4|n.129-25C>T|||||| 22 50507019 . G A . . ANN=A|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000395876|protein_coding|10/12|c.772-35C>T||||||,A|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000395876|protein_coding|9/12|c.772-35C>T||||||,A|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000431262|protein_coding|9/11|c.682-35C>T||||||,A|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000431262|protein_coding|8/11|c.682-35C>T||||||,A|downstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000442311|protein_coding||c.*758C>T|||||1949|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000470008|processed_transcript||n.*236C>T|||||1952|,A|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|9/11|c.772-35C>T||||||,A|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|9/11|c.772-35C>T||||||,A|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|8/10|c.670-35C>T||||||,A|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|8/10|c.682-35C>T||||||,A|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|8/10|c.535-35C>T||||||,A|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|7/9|c.616-35C>T||||||,A|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000483836|processed_transcript|2/4|n.129-35C>T|||||| 22 50512705 . G T . . ANN=T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|8/12|c.654C>A|p.Asn218Lys|1261/3933|654/1134|218/377||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|8/12|c.654C>A|p.Asn218Lys|929/3601|654/1134|218/377||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|7/11|c.552C>A|p.Asn184Lys|648/1656|552/1032|184/343||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|7/11|c.564C>A|p.Asn188Lys|694/1594|564/1044|188/347||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|7/11|c.417C>A|p.Asn139Lys|541/1336|417/897|139/298||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|6/10|c.498C>A|p.Asn166Lys|678/1287|498/978|166/325||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000442311|protein_coding|7/8|c.564C>A|p.Asn188Lys|653/758|564/669|188/222||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000395876|protein_coding|7/12|c.654C>A||||||,T|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000395876|protein_coding|8/12|c.654C>A||||||,T|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000431262|protein_coding|6/11|c.564C>A||||||,T|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000431262|protein_coding|7/11|c.564C>A||||||,T|upstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000483836|processed_transcript||n.-1C>A|||||1461|,T|non_coding_exon_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000470008|processed_transcript|2/3|n.134C>A|||||| 22 50512732 . G A . . ANN=A|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|8/12|c.627C>T|p.Ala209Ala|1234/3933|627/1134|209/377||,A|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|8/12|c.627C>T|p.Ala209Ala|902/3601|627/1134|209/377||,A|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|7/11|c.525C>T|p.Ala175Ala|621/1656|525/1032|175/343||,A|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|7/11|c.537C>T|p.Ala179Ala|667/1594|537/1044|179/347||,A|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|7/11|c.390C>T|p.Ala130Ala|514/1336|390/897|130/298||,A|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|6/10|c.471C>T|p.Ala157Ala|651/1287|471/978|157/325||,A|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000442311|protein_coding|7/8|c.537C>T|p.Ala179Ala|626/758|537/669|179/222||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000395876|protein_coding|7/12|c.627C>T||||||,A|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000395876|protein_coding|8/12|c.627C>T||||||,A|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000431262|protein_coding|6/11|c.537C>T||||||,A|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000431262|protein_coding|7/11|c.537C>T||||||,A|upstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000483836|processed_transcript||n.-1C>T|||||1488|,A|non_coding_exon_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000470008|processed_transcript|2/3|n.107C>T|||||| 22 50512758 . C T . . ANN=T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|8/12|c.601G>A|p.Val201Ile|1208/3933|601/1134|201/377||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|8/12|c.601G>A|p.Val201Ile|876/3601|601/1134|201/377||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|7/11|c.499G>A|p.Val167Ile|595/1656|499/1032|167/343||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|7/11|c.511G>A|p.Val171Ile|641/1594|511/1044|171/347||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|7/11|c.364G>A|p.Val122Ile|488/1336|364/897|122/298||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|6/10|c.445G>A|p.Val149Ile|625/1287|445/978|149/325||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000442311|protein_coding|7/8|c.511G>A|p.Val171Ile|600/758|511/669|171/222||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000395876|protein_coding|7/12|c.601G>A||||||,T|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000395876|protein_coding|8/12|c.601G>A||||||,T|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000431262|protein_coding|6/11|c.511G>A||||||,T|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000431262|protein_coding|7/11|c.511G>A||||||,T|upstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000483836|processed_transcript||n.-1G>A|||||1514|,T|TF_binding_site_variant|MODIFIER|||CTCF|MA0139.1|||||||||,T|non_coding_exon_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000470008|processed_transcript|2/3|n.81G>A|||||| 22 50512761 . C A . . ANN=A|missense_variant&splice_region_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|8/12|c.598G>T|p.Val200Phe|1205/3933|598/1134|200/377||,A|missense_variant&splice_region_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|8/12|c.598G>T|p.Val200Phe|873/3601|598/1134|200/377||,A|missense_variant&splice_region_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|7/11|c.496G>T|p.Val166Phe|592/1656|496/1032|166/343||,A|missense_variant&splice_region_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|7/11|c.508G>T|p.Val170Phe|638/1594|508/1044|170/347||,A|missense_variant&splice_region_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|7/11|c.361G>T|p.Val121Phe|485/1336|361/897|121/298||,A|missense_variant&splice_region_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|6/10|c.442G>T|p.Val148Phe|622/1287|442/978|148/325||,A|missense_variant&splice_region_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000442311|protein_coding|7/8|c.508G>T|p.Val170Phe|597/758|508/669|170/222||WARNING_TRANSCRIPT_NO_STOP_CODON,A|splice_region_variant&non_coding_exon_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000470008|processed_transcript|2/3|n.78G>T||||||,A|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000395876|protein_coding|7/12|c.598G>T||||||,A|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000395876|protein_coding|8/12|c.598G>T||||||,A|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000431262|protein_coding|6/11|c.508G>T||||||,A|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000431262|protein_coding|7/11|c.508G>T||||||,A|upstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000483836|processed_transcript||n.-1G>T|||||1517|,A|TF_binding_site_variant|MODIFIER|||CTCF|MA0139.1||||||||| 22 50512770 . G A . . ANN=A|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000395876|protein_coding|7/12|c.598-9C>T||||||,A|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000395876|protein_coding|8/12|c.598-9C>T||||||,A|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000431262|protein_coding|6/11|c.508-9C>T||||||,A|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000431262|protein_coding|7/11|c.508-9C>T||||||,A|upstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000483836|processed_transcript||n.-1C>T|||||1526|,A|TF_binding_site_variant|MODIFIER|||CTCF|MA0139.1|||||||||,A|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|7/11|c.598-9C>T||||||,A|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|7/11|c.598-9C>T||||||,A|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|6/10|c.496-9C>T||||||,A|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|6/10|c.508-9C>T||||||,A|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|6/10|c.361-9C>T||||||,A|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|5/9|c.442-9C>T||||||,A|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000442311|protein_coding|6/7|c.508-9C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000470008|processed_transcript|1/2|n.78-9C>T|||||| 22 50515226 . C T . . ANN=T|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000395876|protein_coding|7/12|c.597+44G>A||||||,T|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000395876|protein_coding|8/12|c.597+44G>A||||||,T|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000431262|protein_coding|6/11|c.507+44G>A||||||,T|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000431262|protein_coding|7/11|c.507+44G>A||||||,T|upstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000483836|processed_transcript||n.-1G>A|||||3982|,T|upstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000470008|processed_transcript||n.-1G>A|||||2113|,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|7/11|c.597+44G>A||||||,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|7/11|c.597+44G>A||||||,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|6/10|c.495+44G>A||||||,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|6/10|c.507+44G>A||||||,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|6/10|c.360+44G>A||||||,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|5/9|c.441+44G>A||||||,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000442311|protein_coding|6/7|c.507+44G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 50515236 . T C . . ANN=C|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000395876|protein_coding|7/12|c.597+34A>G||||||,C|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000395876|protein_coding|8/12|c.597+34A>G||||||,C|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000431262|protein_coding|6/11|c.507+34A>G||||||,C|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000431262|protein_coding|7/11|c.507+34A>G||||||,C|upstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000483836|processed_transcript||n.-1A>G|||||3992|,C|upstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000470008|processed_transcript||n.-1A>G|||||2123|,C|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|7/11|c.597+34A>G||||||,C|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|7/11|c.597+34A>G||||||,C|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|6/10|c.495+34A>G||||||,C|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|6/10|c.507+34A>G||||||,C|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|6/10|c.360+34A>G||||||,C|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|5/9|c.441+34A>G||||||,C|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000442311|protein_coding|6/7|c.507+34A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 50515270 . T C . . ANN=C|splice_region_variant&synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|7/12|c.597A>G|p.Ser199Ser|1204/3933|597/1134|199/377||,C|splice_region_variant&synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|7/12|c.597A>G|p.Ser199Ser|872/3601|597/1134|199/377||,C|splice_region_variant&synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|6/11|c.495A>G|p.Ser165Ser|591/1656|495/1032|165/343||,C|splice_region_variant&synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|6/11|c.507A>G|p.Ser169Ser|637/1594|507/1044|169/347||,C|splice_region_variant&synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|6/11|c.360A>G|p.Ser120Ser|484/1336|360/897|120/298||,C|splice_region_variant&synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|5/10|c.441A>G|p.Ser147Ser|621/1287|441/978|147/325||,C|splice_region_variant&synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000442311|protein_coding|6/8|c.507A>G|p.Ser169Ser|596/758|507/669|169/222||WARNING_TRANSCRIPT_NO_STOP_CODON,C|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000395876|protein_coding|7/12|c.597A>G||||||,C|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000395876|protein_coding|8/12|c.597A>G||||||,C|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000431262|protein_coding|6/11|c.507A>G||||||,C|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000431262|protein_coding|7/11|c.507A>G||||||,C|upstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000483836|processed_transcript||n.-1A>G|||||4026|,C|upstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000470008|processed_transcript||n.-1A>G|||||2157| 22 50515273 . G A . . ANN=A|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|7/12|c.594C>T|p.Tyr198Tyr|1201/3933|594/1134|198/377||,A|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|7/12|c.594C>T|p.Tyr198Tyr|869/3601|594/1134|198/377||,A|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|6/11|c.492C>T|p.Tyr164Tyr|588/1656|492/1032|164/343||,A|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|6/11|c.504C>T|p.Tyr168Tyr|634/1594|504/1044|168/347||,A|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|6/11|c.357C>T|p.Tyr119Tyr|481/1336|357/897|119/298||,A|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|5/10|c.438C>T|p.Tyr146Tyr|618/1287|438/978|146/325||,A|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000442311|protein_coding|6/8|c.504C>T|p.Tyr168Tyr|593/758|504/669|168/222||WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000483836|processed_transcript||n.-1C>T|||||4029|,A|upstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000470008|processed_transcript||n.-1C>T|||||2160| 22 50515808 . C T . . ANN=T|sequence_feature|LOW|MLC1|ENSG00000100427|compositionally_biased_region:Poly-Lys|ENST00000395876|protein_coding|6/12|c.525+22G>A||||||,T|sequence_feature|LOW|MLC1|ENSG00000100427|compositionally_biased_region:Poly-Lys|ENST00000395876|protein_coding|7/12|c.525+22G>A||||||,T|sequence_feature|LOW|MLC1|ENSG00000100427|compositionally_biased_region:Poly-Lys|ENST00000431262|protein_coding|5/11|c.435+22G>A||||||,T|sequence_feature|LOW|MLC1|ENSG00000100427|compositionally_biased_region:Poly-Lys|ENST00000431262|protein_coding|6/11|c.435+22G>A||||||,T|upstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000483836|processed_transcript||n.-1G>A|||||4564|,T|upstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000470008|processed_transcript||n.-1G>A|||||2695|,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|6/11|c.525+22G>A||||||,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|6/11|c.525+22G>A||||||,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|5/10|c.423+22G>A||||||,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|5/10|c.435+22G>A||||||,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|5/10|c.288+22G>A||||||,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|4/9|c.369+22G>A||||||,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000442311|protein_coding|5/7|c.435+22G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 50515843 . C A . . ANN=A|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|6/12|c.512G>T|p.Cys171Phe|1119/3933|512/1134|171/377||,A|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|6/12|c.512G>T|p.Cys171Phe|787/3601|512/1134|171/377||,A|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|5/11|c.410G>T|p.Cys137Phe|506/1656|410/1032|137/343||,A|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|5/11|c.422G>T|p.Cys141Phe|552/1594|422/1044|141/347||,A|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|5/11|c.275G>T|p.Cys92Phe|399/1336|275/897|92/298||,A|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|4/10|c.356G>T|p.Cys119Phe|536/1287|356/978|119/325||,A|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000442311|protein_coding|5/8|c.422G>T|p.Cys141Phe|511/758|422/669|141/222||WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000483836|processed_transcript||n.-1G>T|||||4599|,A|upstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000470008|processed_transcript||n.-1G>T|||||2730| 22 50515966 . C T . . ANN=T|upstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000483836|processed_transcript||n.-1G>A|||||4722|,T|upstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000470008|processed_transcript||n.-1G>A|||||2853|,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|5/11|c.424-35G>A||||||,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|5/11|c.424-35G>A||||||,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|4/10|c.322-35G>A||||||,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|4/10|c.334-35G>A||||||,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|4/10|c.187-35G>A||||||,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|3/9|c.268-35G>A||||||,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000442311|protein_coding|4/7|c.334-35G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 50515977 . C T . . ANN=T|upstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000483836|processed_transcript||n.-1G>A|||||4733|,T|upstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000470008|processed_transcript||n.-1G>A|||||2864|,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|5/11|c.424-46G>A||||||,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|5/11|c.424-46G>A||||||,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|4/10|c.322-46G>A||||||,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|4/10|c.334-46G>A||||||,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|4/10|c.187-46G>A||||||,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|3/9|c.268-46G>A||||||,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000442311|protein_coding|4/7|c.334-46G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 50518300 . T C . . ANN=C|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|5/11|c.423+47A>G||||||,C|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|5/11|c.423+47A>G||||||,C|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|4/10|c.321+473A>G||||||,C|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|4/10|c.333+47A>G||||||,C|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|4/10|c.186+47A>G||||||,C|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|3/9|c.268-2369A>G||||||,C|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000442311|protein_coding|4/7|c.333+47A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 50518320 . G A . . ANN=A|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|5/11|c.423+27C>T||||||,A|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|5/11|c.423+27C>T||||||,A|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|4/10|c.321+453C>T||||||,A|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|4/10|c.333+27C>T||||||,A|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|4/10|c.186+27C>T||||||,A|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|3/9|c.268-2389C>T||||||,A|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000442311|protein_coding|4/7|c.333+27C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 50518325 . C T . . ANN=T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|5/11|c.423+22G>A||||||,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|5/11|c.423+22G>A||||||,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|4/10|c.321+448G>A||||||,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|4/10|c.333+22G>A||||||,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|4/10|c.186+22G>A||||||,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|3/9|c.268-2394G>A||||||,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000442311|protein_coding|4/7|c.333+22G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 50518416 . C T . . ANN=T|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|5/12|c.354G>A|p.Thr118Thr|961/3933|354/1134|118/377||,T|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|5/12|c.354G>A|p.Thr118Thr|629/3601|354/1134|118/377||,T|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|4/11|c.264G>A|p.Thr88Thr|394/1594|264/1044|88/347||,T|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|4/11|c.117G>A|p.Thr39Thr|241/1336|117/897|39/298||,T|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000442311|protein_coding|4/8|c.264G>A|p.Thr88Thr|353/758|264/669|88/222||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000395876|protein_coding|5/12|c.354G>A||||||,T|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000431262|protein_coding|4/11|c.264G>A||||||,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|4/10|c.321+357G>A||||||,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|3/9|c.268-2485G>A|||||| 22 50518723 . A G . . ANN=G|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|4/11|c.321+50T>C||||||,G|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|4/11|c.321+50T>C||||||,G|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|4/10|c.321+50T>C||||||,G|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|3/10|c.231+50T>C||||||,G|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|3/10|c.84+50T>C||||||,G|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|3/9|c.267+2790T>C||||||,G|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000442311|protein_coding|3/7|c.231+50T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 50518815 . C T . . ANN=T|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|4/12|c.279G>A|p.Ser93Ser|886/3933|279/1134|93/377||,T|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|4/12|c.279G>A|p.Ser93Ser|554/3601|279/1134|93/377||,T|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|4/11|c.279G>A|p.Ser93Ser|375/1656|279/1032|93/343||,T|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|3/11|c.189G>A|p.Ser63Ser|319/1594|189/1044|63/347||,T|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|3/11|c.42G>A|p.Ser14Ser|166/1336|42/897|14/298||,T|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000442311|protein_coding|3/8|c.189G>A|p.Ser63Ser|278/758|189/669|63/222||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000395876|protein_coding|4/12|c.279G>A||||||,T|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000395876|protein_coding|3/12|c.279G>A||||||,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|3/9|c.267+2698G>A|||||| 22 50521564 . C T . . ANN=T|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|3/12|c.216G>A|p.Leu72Leu|823/3933|216/1134|72/377||,T|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|3/12|c.216G>A|p.Leu72Leu|491/3601|216/1134|72/377||,T|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|3/11|c.216G>A|p.Leu72Leu|312/1656|216/1032|72/343||,T|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|3/10|c.216G>A|p.Leu72Leu|396/1287|216/978|72/325||,T|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000395876|protein_coding|3/12|c.216G>A||||||,T|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000395876|protein_coding|2/12|c.216G>A||||||,T|5_prime_UTR_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|2/11|c.-22G>A|||||22|,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|2/10|c.177+1591G>A||||||,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000442311|protein_coding|2/7|c.177+1591G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 50521582 . C G . . ANN=G|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|3/12|c.198G>C|p.Ser66Ser|805/3933|198/1134|66/377||,G|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|3/12|c.198G>C|p.Ser66Ser|473/3601|198/1134|66/377||,G|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|3/11|c.198G>C|p.Ser66Ser|294/1656|198/1032|66/343||,G|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|3/10|c.198G>C|p.Ser66Ser|378/1287|198/978|66/325||,G|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000395876|protein_coding|3/12|c.198G>C||||||,G|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000395876|protein_coding|2/12|c.198G>C||||||,G|5_prime_UTR_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|2/11|c.-40G>C|||||40|,G|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|2/10|c.177+1573G>C||||||,G|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000442311|protein_coding|2/7|c.177+1573G>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 50521642 . C T . . ANN=T|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000395876|protein_coding|3/12|c.178-40G>A||||||,T|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000395876|protein_coding|2/12|c.178-40G>A||||||,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|2/11|c.178-40G>A||||||,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|2/11|c.178-40G>A||||||,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|2/10|c.178-40G>A||||||,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|2/10|c.177+1513G>A||||||,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|1/10|c.-58-42G>A||||||,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|2/9|c.178-40G>A||||||,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000442311|protein_coding|2/7|c.177+1513G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 50523120 . G A . . ANN=A|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000395876|protein_coding|3/12|c.177+35C>T||||||,A|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000395876|protein_coding|2/12|c.177+35C>T||||||,A|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|2/11|c.177+35C>T||||||,A|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|2/11|c.177+35C>T||||||,A|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|2/10|c.177+35C>T||||||,A|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|2/10|c.177+35C>T||||||,A|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|1/10|c.-59+664C>T||||||,A|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|2/9|c.177+35C>T||||||,A|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000442311|protein_coding|2/7|c.177+35C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 50523140 . T C . . ANN=C|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000395876|protein_coding|3/12|c.177+15A>G||||||,C|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000395876|protein_coding|2/12|c.177+15A>G||||||,C|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|2/11|c.177+15A>G||||||,C|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|2/11|c.177+15A>G||||||,C|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|2/10|c.177+15A>G||||||,C|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|2/10|c.177+15A>G||||||,C|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|1/10|c.-59+644A>G||||||,C|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|2/9|c.177+15A>G||||||,C|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000442311|protein_coding|2/7|c.177+15A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 50523237 . G A . . ANN=A|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|2/12|c.95C>T|p.Ala32Val|702/3933|95/1134|32/377||,A|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|2/12|c.95C>T|p.Ala32Val|370/3601|95/1134|32/377||,A|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|2/11|c.95C>T|p.Ala32Val|191/1656|95/1032|32/343||,A|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|2/11|c.95C>T|p.Ala32Val|225/1594|95/1044|32/347||,A|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|2/10|c.95C>T|p.Ala32Val|275/1287|95/978|32/325||,A|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000442311|protein_coding|2/8|c.95C>T|p.Ala32Val|184/758|95/669|32/222||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|1/10|c.-59+547C>T|||||| 22 50523238 . C T . . ANN=T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|2/12|c.94G>A|p.Ala32Thr|701/3933|94/1134|32/377||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|2/12|c.94G>A|p.Ala32Thr|369/3601|94/1134|32/377||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|2/11|c.94G>A|p.Ala32Thr|190/1656|94/1032|32/343||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|2/11|c.94G>A|p.Ala32Thr|224/1594|94/1044|32/347||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|2/10|c.94G>A|p.Ala32Thr|274/1287|94/978|32/325||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000442311|protein_coding|2/8|c.94G>A|p.Ala32Thr|183/758|94/669|32/222||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|1/10|c.-59+546G>A|||||| 22 50523239 . G A . . ANN=A|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|2/12|c.93C>T|p.Asp31Asp|700/3933|93/1134|31/377||,A|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|2/12|c.93C>T|p.Asp31Asp|368/3601|93/1134|31/377||,A|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|2/11|c.93C>T|p.Asp31Asp|189/1656|93/1032|31/343||,A|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|2/11|c.93C>T|p.Asp31Asp|223/1594|93/1044|31/347||,A|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|2/10|c.93C>T|p.Asp31Asp|273/1287|93/978|31/325||,A|synonymous_variant|LOW|MLC1|ENSG00000100427|transcript|ENST00000442311|protein_coding|2/8|c.93C>T|p.Asp31Asp|182/758|93/669|31/222||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|1/10|c.-59+545C>T|||||| 22 50523256 . C T . . ANN=T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|2/12|c.76G>A|p.Ala26Thr|683/3933|76/1134|26/377||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|2/12|c.76G>A|p.Ala26Thr|351/3601|76/1134|26/377||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|2/11|c.76G>A|p.Ala26Thr|172/1656|76/1032|26/343||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|2/11|c.76G>A|p.Ala26Thr|206/1594|76/1044|26/347||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|2/10|c.76G>A|p.Ala26Thr|256/1287|76/978|26/325||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000442311|protein_coding|2/8|c.76G>A|p.Ala26Thr|165/758|76/669|26/222||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|1/10|c.-59+528G>A|||||| 22 50523267 . C T . . ANN=T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|2/12|c.65G>A|p.Arg22Gln|672/3933|65/1134|22/377||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|2/12|c.65G>A|p.Arg22Gln|340/3601|65/1134|22/377||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|2/11|c.65G>A|p.Arg22Gln|161/1656|65/1032|22/343||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|2/11|c.65G>A|p.Arg22Gln|195/1594|65/1044|22/347||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|2/10|c.65G>A|p.Arg22Gln|245/1287|65/978|22/325||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000442311|protein_coding|2/8|c.65G>A|p.Arg22Gln|154/758|65/669|22/222||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|1/10|c.-59+517G>A|||||| 22 50523297 . T G . . ANN=G|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|2/12|c.35A>C|p.Tyr12Ser|642/3933|35/1134|12/377||,G|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|2/12|c.35A>C|p.Tyr12Ser|310/3601|35/1134|12/377||,G|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|2/11|c.35A>C|p.Tyr12Ser|131/1656|35/1032|12/343||,G|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|2/11|c.35A>C|p.Tyr12Ser|165/1594|35/1044|12/347||,G|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|2/10|c.35A>C|p.Tyr12Ser|215/1287|35/978|12/325||,G|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000442311|protein_coding|2/8|c.35A>C|p.Tyr12Ser|124/758|35/669|12/222||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|1/10|c.-59+487A>C|||||| 22 50528497 . A G . . ANN=G|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|1/27|c.-21A>G|||||21|,G|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|2/28|c.-21A>G|||||21|,G|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|1/4|n.-21A>G|||||21|,G|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|1/4|n.-21A>G|||||21|,G|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|1/26|c.-21A>G|||||21|,G|upstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding||c.-608T>C|||||4166|,G|upstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding||c.-276T>C|||||4714|,G|upstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding||c.-97T>C|||||4677|,G|upstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding||c.-131T>C|||||4643|,G|upstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding||c.-125T>C|||||4648|,G|upstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding||c.-181T>C|||||4809|,G|upstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000442311|protein_coding||c.-90T>C|||||4684|WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding||c.-2709A>G|||||19|,G|upstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000475190|processed_transcript||n.-1A>G|||||188|,G|upstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding||c.-221A>G|||||188|,G|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|1/4|n.-21A>G||||||,G|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|1/4|n.-21A>G|||||| 22 50528569 . A T . . ANN=T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|1/27|c.52A>T|p.Thr18Ser|135/3960|52/3636|18/1211||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|2/28|c.52A>T|p.Thr18Ser|136/3889|52/3636|18/1211||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|1/26|c.52A>T|p.Thr18Ser|76/3763|52/3498|18/1165||,T|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|1/22|c.-2655A>T|||||59554|,T|upstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding||c.-608T>A|||||4238|,T|upstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding||c.-276T>A|||||4786|,T|upstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding||c.-97T>A|||||4749|,T|upstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding||c.-131T>A|||||4715|,T|upstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding||c.-125T>A|||||4720|,T|upstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding||c.-181T>A|||||4881|,T|upstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000442311|protein_coding||c.-90T>A|||||4756|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000475190|processed_transcript||n.-1A>T|||||116|,T|upstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding||c.-221A>T|||||116|,T|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|1/4|n.52A>T||||||,T|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|1/4|n.52A>T|||||| 22 50528623 . C A . . ANN=A|upstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding||c.-608G>T|||||4292|,A|upstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding||c.-276G>T|||||4840|,A|upstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding||c.-97G>T|||||4803|,A|upstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding||c.-131G>T|||||4769|,A|upstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding||c.-125G>T|||||4774|,A|upstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding||c.-181G>T|||||4935|,A|upstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000442311|protein_coding||c.-90G>T|||||4810|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000475190|processed_transcript||n.-1C>A|||||62|,A|upstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding||c.-221C>A|||||62|,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|1/26|c.97+9C>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|2/27|c.97+9C>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|1/25|c.97+9C>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|1/21|c.-2610+9C>A||||||,A|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|1/4|n.106C>A||||||,A|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|1/4|n.106C>A|||||| 22 50530381 . G C . . ANN=C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|1/26|c.98-49G>C||||||,C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|2/27|c.98-49G>C||||||,C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|1/3|n.*1204-49G>C||||||,C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|1/3|n.*254-49G>C||||||,C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|1/25|c.98-49G>C||||||,C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|1/21|c.-2609-49G>C||||||,C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000475190|processed_transcript|1/3|n.143-49G>C||||||,C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|1/25|c.38-49G>C|||||| 22 50530389 . G C . . ANN=C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|1/26|c.98-41G>C||||||,C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|2/27|c.98-41G>C||||||,C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|1/3|n.*1204-41G>C||||||,C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|1/3|n.*254-41G>C||||||,C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|1/25|c.98-41G>C||||||,C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|1/21|c.-2609-41G>C||||||,C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000475190|processed_transcript|1/3|n.143-41G>C||||||,C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|1/25|c.38-41G>C|||||| 22 50530501 . A T . . ANN=T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|2/27|c.169A>T|p.Met57Leu|252/3960|169/3636|57/1211||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|3/28|c.169A>T|p.Met57Leu|253/3889|169/3636|57/1211||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|2/26|c.169A>T|p.Met57Leu|193/3763|169/3498|57/1165||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|2/26|c.109A>T|p.Met37Leu|329/3941|109/3498|37/1165||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|2/22|c.-2538A>T||||||,T|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|2/22|c.-2538A>T|||||57622|,T|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|2/4|n.*1275A>T|||||1813|,T|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|2/4|n.*325A>T|||||1813|,T|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|2/4|n.*1275A>T||||||,T|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|2/4|n.*325A>T||||||,T|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000475190|processed_transcript|2/4|n.214A>T|||||| 22 50530564 . A G . . ANN=G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|2/27|c.232A>G|p.Ile78Val|315/3960|232/3636|78/1211||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|3/28|c.232A>G|p.Ile78Val|316/3889|232/3636|78/1211||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|2/26|c.232A>G|p.Ile78Val|256/3763|232/3498|78/1165||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|2/26|c.172A>G|p.Ile58Val|392/3941|172/3498|58/1165||,G|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|2/22|c.-2475A>G|||||57559|,G|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|2/4|n.*1338A>G|||||1876|,G|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|2/4|n.*388A>G|||||1876|,G|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|2/4|n.*1338A>G||||||,G|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|2/4|n.*388A>G||||||,G|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000475190|processed_transcript|2/4|n.277A>G|||||| 22 50530566 . T G . . ANN=G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|2/27|c.234T>G|p.Ile78Met|317/3960|234/3636|78/1211||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|3/28|c.234T>G|p.Ile78Met|318/3889|234/3636|78/1211||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|2/26|c.234T>G|p.Ile78Met|258/3763|234/3498|78/1165||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|2/26|c.174T>G|p.Ile58Met|394/3941|174/3498|58/1165||,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|2/22|c.-2473T>G||||||,G|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|2/22|c.-2473T>G|||||57557|,G|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|2/4|n.*1340T>G|||||1878|,G|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|2/4|n.*390T>G|||||1878|,G|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|2/4|n.*1340T>G||||||,G|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|2/4|n.*390T>G||||||,G|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000475190|processed_transcript|2/4|n.279T>G|||||| 22 50530651 . G A . . ANN=A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|2/26|c.282+37G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|3/27|c.282+37G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|2/3|n.*1388+37G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|2/3|n.*438+37G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|2/25|c.282+37G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|2/21|c.-2425+37G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000475190|processed_transcript|2/3|n.327+37G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|2/25|c.222+37G>A|||||| 22 50530657 . G C . . ANN=C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|2/26|c.282+43G>C||||||,C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|3/27|c.282+43G>C||||||,C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|2/3|n.*1388+43G>C||||||,C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|2/3|n.*438+43G>C||||||,C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|2/25|c.282+43G>C||||||,C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|2/21|c.-2425+43G>C||||||,C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000475190|processed_transcript|2/3|n.327+43G>C||||||,C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|2/25|c.222+43G>C|||||| 22 50537888 . A G . . ANN=G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|3/27|c.299A>G|p.Asp100Gly|382/3960|299/3636|100/1211||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|4/28|c.299A>G|p.Asp100Gly|383/3889|299/3636|100/1211||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|3/26|c.299A>G|p.Asp100Gly|323/3763|299/3498|100/1165||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|3/26|c.239A>G|p.Asp80Gly|459/3941|239/3498|80/1165||,G|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|3/22|c.-2408A>G|||||50235|,G|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|3/4|n.*1405A>G|||||9200|,G|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|3/4|n.*455A>G|||||9200|,G|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|3/4|n.*1405A>G||||||,G|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|3/4|n.*455A>G||||||,G|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000475190|processed_transcript|3/4|n.344A>G|||||| 22 50537901 . C T . . ANN=T|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|3/27|c.312C>T|p.Asp104Asp|395/3960|312/3636|104/1211||,T|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|4/28|c.312C>T|p.Asp104Asp|396/3889|312/3636|104/1211||,T|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|3/26|c.312C>T|p.Asp104Asp|336/3763|312/3498|104/1165||,T|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|3/26|c.252C>T|p.Asp84Asp|472/3941|252/3498|84/1165||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|3/22|c.-2395C>T||||||,T|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|3/22|c.-2395C>T|||||50222|,T|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|3/4|n.*1418C>T|||||9213|,T|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|3/4|n.*468C>T|||||9213|,T|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|3/4|n.*1418C>T||||||,T|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|3/4|n.*468C>T||||||,T|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000475190|processed_transcript|3/4|n.357C>T|||||| 22 50537916 . T C . . ANN=C|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|3/27|c.327T>C|p.His109His|410/3960|327/3636|109/1211||,C|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|4/28|c.327T>C|p.His109His|411/3889|327/3636|109/1211||,C|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|3/26|c.327T>C|p.His109His|351/3763|327/3498|109/1165||,C|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|3/26|c.267T>C|p.His89His|487/3941|267/3498|89/1165||,C|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|3/22|c.-2380T>C|||||50207|,C|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|3/4|n.*1433T>C|||||9228|,C|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|3/4|n.*483T>C|||||9228|,C|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|3/4|n.*1433T>C||||||,C|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|3/4|n.*483T>C||||||,C|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000475190|processed_transcript|3/4|n.372T>C|||||| 22 50537957 . G C . . ANN=C|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|3/27|c.368G>C|p.Cys123Ser|451/3960|368/3636|123/1211||,C|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|4/28|c.368G>C|p.Cys123Ser|452/3889|368/3636|123/1211||,C|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|3/26|c.368G>C|p.Cys123Ser|392/3763|368/3498|123/1165||,C|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|3/26|c.308G>C|p.Cys103Ser|528/3941|308/3498|103/1165||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|3/22|c.-2339G>C||||||,C|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|3/22|c.-2339G>C|||||50166|,C|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|3/4|n.*1474G>C|||||9269|,C|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|3/4|n.*524G>C|||||9269|,C|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|3/4|n.*1474G>C||||||,C|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|3/4|n.*524G>C||||||,C|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000475190|processed_transcript|3/4|n.413G>C|||||| 22 50537961 . G C . . ANN=C|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|3/27|c.372G>C|p.Val124Val|455/3960|372/3636|124/1211||,C|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|4/28|c.372G>C|p.Val124Val|456/3889|372/3636|124/1211||,C|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|3/26|c.372G>C|p.Val124Val|396/3763|372/3498|124/1165||,C|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|3/26|c.312G>C|p.Val104Val|532/3941|312/3498|104/1165||,C|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|3/22|c.-2335G>C|||||50162|,C|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|3/4|n.*1478G>C|||||9273|,C|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|3/4|n.*528G>C|||||9273|,C|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|3/4|n.*1478G>C||||||,C|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|3/4|n.*528G>C||||||,C|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000475190|processed_transcript|3/4|n.417G>C|||||| 22 50537980 . G A . . ANN=A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|3/27|c.391G>A|p.Ala131Thr|474/3960|391/3636|131/1211||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|4/28|c.391G>A|p.Ala131Thr|475/3889|391/3636|131/1211||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|3/26|c.391G>A|p.Ala131Thr|415/3763|391/3498|131/1165||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|3/26|c.331G>A|p.Ala111Thr|551/3941|331/3498|111/1165||,A|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|3/22|c.-2316G>A|||||50143|,A|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|3/4|n.*1497G>A|||||9292|,A|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|3/4|n.*547G>A|||||9292|,A|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|3/4|n.*1497G>A||||||,A|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|3/4|n.*547G>A||||||,A|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000475190|processed_transcript|3/4|n.436G>A|||||| 22 50538028 . G A . . ANN=A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|3/27|c.439G>A|p.Glu147Lys|522/3960|439/3636|147/1211||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|4/28|c.439G>A|p.Glu147Lys|523/3889|439/3636|147/1211||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|3/26|c.439G>A|p.Glu147Lys|463/3763|439/3498|147/1165||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|3/26|c.379G>A|p.Glu127Lys|599/3941|379/3498|127/1165||,A|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|3/22|c.-2268G>A|||||50095|,A|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|3/4|n.*1545G>A|||||9340|,A|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|3/4|n.*595G>A|||||9340|,A|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|3/4|n.*1545G>A||||||,A|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|3/4|n.*595G>A||||||,A|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000475190|processed_transcript|3/4|n.484G>A|||||| 22 50538053 . C G . . ANN=G|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|3/26|c.442+22C>G||||||,G|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|4/27|c.442+22C>G||||||,G|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|3/3|n.*1548+22C>G||||||,G|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|3/3|n.*598+22C>G||||||,G|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|3/25|c.442+22C>G||||||,G|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|3/21|c.-2265+22C>G||||||,G|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000475190|processed_transcript|3/3|n.487+22C>G||||||,G|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|3/25|c.382+22C>G|||||| 22 50546544 . C T . . ANN=T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|3/26|c.443-21C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|4/27|c.443-21C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|3/3|n.*1549-21C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|3/3|n.*599-21C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|3/25|c.443-21C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|3/21|c.-2264-21C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000475190|processed_transcript|3/3|n.488-21C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|3/25|c.383-21C>T|||||| 22 50546612 . C T . . ANN=T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|4/27|c.490C>T|p.Arg164Trp|573/3960|490/3636|164/1211||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|5/28|c.490C>T|p.Arg164Trp|574/3889|490/3636|164/1211||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|4/26|c.490C>T|p.Arg164Trp|514/3763|490/3498|164/1165||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|4/26|c.430C>T|p.Arg144Trp|650/3941|430/3498|144/1165||,T|splice_region_variant&non_coding_exon_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000475190|processed_transcript|4/4|n.535C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|4/22|c.-2217C>T||||||,T|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|4/22|c.-2217C>T|||||41511|,T|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|4/4|n.*1596C>T|||||17924|,T|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|4/4|n.*646C>T|||||17924|,T|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|4/4|n.*1596C>T||||||,T|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|4/4|n.*646C>T|||||| 22 50546622 . C T . . ANN=T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|4/27|c.500C>T|p.Thr167Met|583/3960|500/3636|167/1211||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|5/28|c.500C>T|p.Thr167Met|584/3889|500/3636|167/1211||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|4/26|c.500C>T|p.Thr167Met|524/3763|500/3498|167/1165||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|4/26|c.440C>T|p.Thr147Met|660/3941|440/3498|147/1165||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|4/22|c.-2207C>T||||||,T|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|4/22|c.-2207C>T|||||41501|,T|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|4/4|n.*1606C>T|||||17934|,T|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|4/4|n.*656C>T|||||17934|,T|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000475190|processed_transcript||n.*536C>T|||||9|,T|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|4/4|n.*1606C>T||||||,T|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|4/4|n.*656C>T|||||| 22 50546637 . C G . . ANN=G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|4/27|c.515C>G|p.Ala172Gly|598/3960|515/3636|172/1211||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|5/28|c.515C>G|p.Ala172Gly|599/3889|515/3636|172/1211||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|4/26|c.515C>G|p.Ala172Gly|539/3763|515/3498|172/1165||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|4/26|c.455C>G|p.Ala152Gly|675/3941|455/3498|152/1165||,G|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|4/22|c.-2192C>G|||||41486|,G|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|4/4|n.*1621C>G|||||17949|,G|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|4/4|n.*671C>G|||||17949|,G|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000475190|processed_transcript||n.*536C>G|||||24|,G|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|4/4|n.*1621C>G||||||,G|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|4/4|n.*671C>G|||||| 22 50546666 . C T . . ANN=T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|4/27|c.544C>T|p.Arg182Cys|627/3960|544/3636|182/1211||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|5/28|c.544C>T|p.Arg182Cys|628/3889|544/3636|182/1211||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|4/26|c.544C>T|p.Arg182Cys|568/3763|544/3498|182/1165||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|4/26|c.484C>T|p.Arg162Cys|704/3941|484/3498|162/1165||,T|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|4/22|c.-2163C>T|||||41457|,T|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|4/4|n.*1650C>T|||||17978|,T|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|4/4|n.*700C>T|||||17978|,T|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000475190|processed_transcript||n.*536C>T|||||53|,T|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|4/4|n.*1650C>T||||||,T|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|4/4|n.*700C>T|||||| 22 50546688 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|4/4|n.*1672G>A|||||18000|,A|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|4/4|n.*722G>A|||||18000|,A|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000475190|processed_transcript||n.*536G>A|||||75|,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|4/26|c.555+11G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|5/27|c.555+11G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|4/25|c.555+11G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|4/21|c.-2152+11G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|4/25|c.495+11G>A||||||,A|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|4/4|n.*1672G>A||||||,A|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|4/4|n.*722G>A|||||| 22 50546725 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|4/4|n.*1709C>T|||||18037|,T|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|4/4|n.*759C>T|||||18037|,T|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000475190|processed_transcript||n.*536C>T|||||112|,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|4/26|c.555+48C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|5/27|c.555+48C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|4/25|c.555+48C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|4/21|c.-2152+48C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|4/25|c.495+48C>T||||||,T|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|4/4|n.*1709C>T||||||,T|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|4/4|n.*759C>T|||||| 22 50547082 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|4/26|c.556-4C>T||||||,T|splice_region_variant&intron_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|5/27|c.556-4C>T||||||,T|splice_region_variant&intron_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|4/25|c.556-4C>T||||||,T|splice_region_variant&intron_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|4/21|c.-2151-4C>T||||||,T|splice_region_variant&intron_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|4/25|c.496-4C>T||||||,T|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay||n.*215C>T|||||278|,T|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay||n.*206C>T|||||278|,T|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000475190|processed_transcript||n.*536C>T|||||469| 22 50547101 . C T . . ANN=T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|5/27|c.571C>T|p.Leu191Phe|654/3960|571/3636|191/1211||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|6/28|c.571C>T|p.Leu191Phe|655/3889|571/3636|191/1211||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|5/26|c.571C>T|p.Leu191Phe|595/3763|571/3498|191/1165||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|5/26|c.511C>T|p.Leu171Phe|731/3941|511/3498|171/1165||,T|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|5/22|c.-2136C>T|||||41022|,T|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay||n.*215C>T|||||297|,T|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay||n.*206C>T|||||297|,T|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000475190|processed_transcript||n.*536C>T|||||488| 22 50547247 . A G . . ANN=G|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|5/27|c.717A>G|p.Ala239Ala|800/3960|717/3636|239/1211||,G|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|6/28|c.717A>G|p.Ala239Ala|801/3889|717/3636|239/1211||,G|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|5/26|c.717A>G|p.Ala239Ala|741/3763|717/3498|239/1165||,G|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|5/26|c.657A>G|p.Ala219Ala|877/3941|657/3498|219/1165||,G|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|5/22|c.-1990A>G|||||40876|,G|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay||n.*215A>G|||||443|,G|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay||n.*206A>G|||||443|,G|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000475190|processed_transcript||n.*536A>G|||||634| 22 50552053 . G A . . ANN=A|upstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay||n.-3G>A|||||834|,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|5/26|c.744-24G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|6/27|c.744-24G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|5/25|c.744-24G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|5/21|c.-1963-24G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|5/25|c.684-24G>A|||||| 22 50552119 . G T . . ANN=T|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|6/27|c.786G>T|p.Thr262Thr|869/3960|786/3636|262/1211||,T|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|7/28|c.786G>T|p.Thr262Thr|870/3889|786/3636|262/1211||,T|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|6/26|c.786G>T|p.Thr262Thr|810/3763|786/3498|262/1165||,T|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|6/26|c.726G>T|p.Thr242Thr|946/3941|726/3498|242/1165||,T|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|6/22|c.-1921G>T|||||36004|,T|upstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay||n.-3G>T|||||768| 22 50553013 . C T . . ANN=T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|7/27|c.1088C>T|p.Ser363Leu|1171/3960|1088/3636|363/1211||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|8/28|c.1088C>T|p.Ser363Leu|1172/3889|1088/3636|363/1211||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|7/26|c.1088C>T|p.Ser363Leu|1112/3763|1088/3498|363/1165||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|7/26|c.1028C>T|p.Ser343Leu|1248/3941|1028/3498|343/1165||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|7/22|c.-1619C>T||||||,T|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|7/22|c.-1619C>T|||||35110|,T|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|1/7|n.125C>T|||||| 22 50553033 . A G . . ANN=G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|7/27|c.1108A>G|p.Asn370Asp|1191/3960|1108/3636|370/1211||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|8/28|c.1108A>G|p.Asn370Asp|1192/3889|1108/3636|370/1211||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|7/26|c.1108A>G|p.Asn370Asp|1132/3763|1108/3498|370/1165||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|7/26|c.1048A>G|p.Asn350Asp|1268/3941|1048/3498|350/1165||,G|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|7/22|c.-1599A>G|||||35090|,G|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|1/7|n.145A>G|||||| 22 50553085 . C T . . ANN=T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|7/26|c.1126+34C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|8/27|c.1126+34C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|7/25|c.1126+34C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|7/21|c.-1581+34C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|7/25|c.1066+34C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|1/6|n.163+34C>T|||||| 22 50553086 . G A . . ANN=A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|7/26|c.1126+35G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|8/27|c.1126+35G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|7/25|c.1126+35G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|7/21|c.-1581+35G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|7/25|c.1066+35G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|1/6|n.163+35G>A|||||| 22 50553514 . A T . . ANN=T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|7/26|c.1127-29A>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|8/27|c.1127-29A>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|7/25|c.1127-29A>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|7/21|c.-1580-29A>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|7/25|c.1067-29A>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|1/6|n.164-29A>T|||||| 22 50553610 . G C . . ANN=C|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|8/27|c.1194G>C|p.Glu398Asp|1277/3960|1194/3636|398/1211||,C|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|9/28|c.1194G>C|p.Glu398Asp|1278/3889|1194/3636|398/1211||,C|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|8/26|c.1194G>C|p.Glu398Asp|1218/3763|1194/3498|398/1165||,C|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|8/26|c.1134G>C|p.Glu378Asp|1354/3941|1134/3498|378/1165||,C|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|8/22|c.-1513G>C|||||34513|,C|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|2/7|n.231G>C|||||| 22 50553645 . A G . . ANN=G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|8/27|c.1229A>G|p.Lys410Arg|1312/3960|1229/3636|410/1211||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|9/28|c.1229A>G|p.Lys410Arg|1313/3889|1229/3636|410/1211||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|8/26|c.1229A>G|p.Lys410Arg|1253/3763|1229/3498|410/1165||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|8/26|c.1169A>G|p.Lys390Arg|1389/3941|1169/3498|390/1165||,G|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|8/22|c.-1478A>G|||||34478|,G|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|2/7|n.266A>G|||||| 22 50553702 . C T . . ANN=T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|8/26|c.1259+27C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|9/27|c.1259+27C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|8/25|c.1259+27C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|8/21|c.-1448+27C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|8/25|c.1199+27C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|2/6|n.296+27C>T|||||| 22 50553703 . C T . . ANN=T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|8/26|c.1259+28C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|9/27|c.1259+28C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|8/25|c.1259+28C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|8/21|c.-1448+28C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|8/25|c.1199+28C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|2/6|n.296+28C>T|||||| 22 50555619 . C T . . ANN=T|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|9/27|c.1293C>T|p.Leu431Leu|1376/3960|1293/3636|431/1211||,T|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|10/28|c.1293C>T|p.Leu431Leu|1377/3889|1293/3636|431/1211||,T|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|9/26|c.1293C>T|p.Leu431Leu|1317/3763|1293/3498|431/1165||,T|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|9/26|c.1233C>T|p.Leu411Leu|1453/3941|1233/3498|411/1165||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|9/22|c.-1414C>T||||||,T|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|9/22|c.-1414C>T|||||32504|,T|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|3/7|n.330C>T|||||| 22 50555635 . C T . . ANN=T|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|9/27|c.1309C>T|p.Leu437Leu|1392/3960|1309/3636|437/1211||,T|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|10/28|c.1309C>T|p.Leu437Leu|1393/3889|1309/3636|437/1211||,T|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|9/26|c.1309C>T|p.Leu437Leu|1333/3763|1309/3498|437/1165||,T|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|9/26|c.1249C>T|p.Leu417Leu|1469/3941|1249/3498|417/1165||,T|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|9/22|c.-1398C>T|||||32488|,T|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|3/7|n.346C>T|||||| 22 50555644 . C T . . ANN=T|stop_gained|HIGH|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|9/27|c.1318C>T|p.Arg440*|1401/3960|1318/3636|440/1211||,T|stop_gained|HIGH|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|10/28|c.1318C>T|p.Arg440*|1402/3889|1318/3636|440/1211||,T|stop_gained|HIGH|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|9/26|c.1318C>T|p.Arg440*|1342/3763|1318/3498|440/1165||,T|stop_gained|HIGH|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|9/26|c.1258C>T|p.Arg420*|1478/3941|1258/3498|420/1165||,T|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|9/22|c.-1389C>T|||||32479|,T|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|3/7|n.355C>T||||||;LOF=(MOV10L1|ENSG00000073146|11|0.36);NMD=(MOV10L1|ENSG00000073146|11|0.36) 22 50555686 . A C . . ANN=C|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|9/27|c.1360A>C|p.Ile454Leu|1443/3960|1360/3636|454/1211||,C|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|10/28|c.1360A>C|p.Ile454Leu|1444/3889|1360/3636|454/1211||,C|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|9/26|c.1360A>C|p.Ile454Leu|1384/3763|1360/3498|454/1165||,C|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|9/26|c.1300A>C|p.Ile434Leu|1520/3941|1300/3498|434/1165||,C|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|9/22|c.-1347A>C|||||32437|,C|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|3/7|n.397A>C|||||| 22 50555694 . G C . . ANN=C|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|9/27|c.1368G>C|p.Ala456Ala|1451/3960|1368/3636|456/1211||,C|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|10/28|c.1368G>C|p.Ala456Ala|1452/3889|1368/3636|456/1211||,C|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|9/26|c.1368G>C|p.Ala456Ala|1392/3763|1368/3498|456/1165||,C|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|9/26|c.1308G>C|p.Ala436Ala|1528/3941|1308/3498|436/1165||,C|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|9/22|c.-1339G>C|||||32429|,C|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|3/7|n.405G>C|||||| 22 50555696 . G A . . ANN=A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|9/27|c.1370G>A|p.Arg457His|1453/3960|1370/3636|457/1211||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|10/28|c.1370G>A|p.Arg457His|1454/3889|1370/3636|457/1211||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|9/26|c.1370G>A|p.Arg457His|1394/3763|1370/3498|457/1165||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|9/26|c.1310G>A|p.Arg437His|1530/3941|1310/3498|437/1165||,A|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|9/22|c.-1337G>A|||||32427|,A|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|3/7|n.407G>A|||||| 22 50555697 . C A . . ANN=A|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|9/27|c.1371C>A|p.Arg457Arg|1454/3960|1371/3636|457/1211||,A|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|10/28|c.1371C>A|p.Arg457Arg|1455/3889|1371/3636|457/1211||,A|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|9/26|c.1371C>A|p.Arg457Arg|1395/3763|1371/3498|457/1165||,A|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|9/26|c.1311C>A|p.Arg437Arg|1531/3941|1311/3498|437/1165||,A|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|9/22|c.-1336C>A|||||32426|,A|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|3/7|n.408C>A|||||| 22 50555704 . T C . . ANN=C|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|9/27|c.1378T>C|p.Phe460Leu|1461/3960|1378/3636|460/1211||,C|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|10/28|c.1378T>C|p.Phe460Leu|1462/3889|1378/3636|460/1211||,C|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|9/26|c.1378T>C|p.Phe460Leu|1402/3763|1378/3498|460/1165||,C|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|9/26|c.1318T>C|p.Phe440Leu|1538/3941|1318/3498|440/1165||,C|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|9/22|c.-1329T>C|||||32419|,C|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|3/7|n.415T>C|||||| 22 50555746 . G A . . ANN=A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|9/27|c.1420G>A|p.Ala474Thr|1503/3960|1420/3636|474/1211||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|10/28|c.1420G>A|p.Ala474Thr|1504/3889|1420/3636|474/1211||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|9/26|c.1420G>A|p.Ala474Thr|1444/3763|1420/3498|474/1165||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|9/26|c.1360G>A|p.Ala454Thr|1580/3941|1360/3498|454/1165||,A|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|9/22|c.-1287G>A|||||32377|,A|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|3/7|n.457G>A|||||| 22 50555777 . A G . . ANN=G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|9/27|c.1451A>G|p.Lys484Arg|1534/3960|1451/3636|484/1211||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|10/28|c.1451A>G|p.Lys484Arg|1535/3889|1451/3636|484/1211||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|9/26|c.1451A>G|p.Lys484Arg|1475/3763|1451/3498|484/1165||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|9/26|c.1391A>G|p.Lys464Arg|1611/3941|1391/3498|464/1165||,G|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|9/22|c.-1256A>G|||||32346|,G|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|3/7|n.488A>G|||||| 22 50555825 . T A . . ANN=A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|9/26|c.1454+45T>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|10/27|c.1454+45T>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|9/25|c.1454+45T>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|9/21|c.-1253+45T>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|9/25|c.1394+45T>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|3/6|n.491+45T>A|||||| 22 50558924 . T G . . ANN=G|splice_region_variant&intron_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|9/26|c.1455-7T>G||||||,G|splice_region_variant&intron_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|10/27|c.1455-7T>G||||||,G|splice_region_variant&intron_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|9/25|c.1455-7T>G||||||,G|splice_region_variant&intron_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|9/21|c.-1252-7T>G||||||,G|splice_region_variant&intron_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|9/25|c.1395-7T>G||||||,G|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|3/6|n.491+3144T>G|||||| 22 50558941 . C T . . ANN=T|stop_gained|HIGH|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|10/27|c.1465C>T|p.Arg489*|1548/3960|1465/3636|489/1211||,T|stop_gained|HIGH|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|11/28|c.1465C>T|p.Arg489*|1549/3889|1465/3636|489/1211||,T|stop_gained|HIGH|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|10/26|c.1465C>T|p.Arg489*|1489/3763|1465/3498|489/1165||,T|stop_gained|HIGH|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|10/26|c.1405C>T|p.Arg469*|1625/3941|1405/3498|469/1165||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|10/22|c.-1242C>T||||||,T|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|10/22|c.-1242C>T|||||29182|,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|3/6|n.491+3161C>T||||||;LOF=(MOV10L1|ENSG00000073146|11|0.36);NMD=(MOV10L1|ENSG00000073146|11|0.36) 22 50558946 . A G . . ANN=G|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|10/27|c.1470A>G|p.Gln490Gln|1553/3960|1470/3636|490/1211||,G|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|11/28|c.1470A>G|p.Gln490Gln|1554/3889|1470/3636|490/1211||,G|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|10/26|c.1470A>G|p.Gln490Gln|1494/3763|1470/3498|490/1165||,G|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|10/26|c.1410A>G|p.Gln470Gln|1630/3941|1410/3498|470/1165||,G|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|10/22|c.-1237A>G|||||29177|,G|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|3/6|n.491+3166A>G|||||| 22 50559021 . G A . . ANN=A|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|10/27|c.1545G>A|p.Leu515Leu|1628/3960|1545/3636|515/1211||,A|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|11/28|c.1545G>A|p.Leu515Leu|1629/3889|1545/3636|515/1211||,A|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|10/26|c.1545G>A|p.Leu515Leu|1569/3763|1545/3498|515/1165||,A|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|10/26|c.1485G>A|p.Leu495Leu|1705/3941|1485/3498|495/1165||,A|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|10/22|c.-1162G>A|||||29102|,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|3/6|n.491+3241G>A|||||| 22 50559055 . G A . . ANN=A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|10/26|c.1569+10G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|11/27|c.1569+10G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|10/25|c.1569+10G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|10/21|c.-1138+10G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|10/25|c.1509+10G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|3/6|n.491+3275G>A|||||| 22 50563972 . C T . . ANN=T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|11/27|c.1721C>T|p.Ala574Val|1804/3960|1721/3636|574/1211||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|12/28|c.1721C>T|p.Ala574Val|1805/3889|1721/3636|574/1211||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|11/26|c.1721C>T|p.Ala574Val|1745/3763|1721/3498|574/1165||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|11/26|c.1661C>T|p.Ala554Val|1881/3941|1661/3498|554/1165||,T|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|11/22|c.-986C>T|||||24151|,T|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|4/7|n.*145C>T|||||145|,T|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|4/7|n.*145C>T|||||| 22 50564583 . T A . . ANN=A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|11/26|c.1748-48T>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|12/27|c.1748-48T>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|11/25|c.1748-48T>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|11/21|c.-959-48T>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|11/25|c.1688-48T>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|4/6|n.*171+585T>A|||||| 22 50564618 . A AT . . ANN=T|splice_region_variant&intron_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|11/26|c.1748-7dupT||||||INFO_REALIGN_3_PRIME,T|splice_region_variant&intron_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|12/27|c.1748-7dupT||||||INFO_REALIGN_3_PRIME,T|splice_region_variant&intron_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|11/25|c.1748-7dupT||||||INFO_REALIGN_3_PRIME,T|splice_region_variant&intron_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|11/21|c.-959-7dupT||||||INFO_REALIGN_3_PRIME,T|splice_region_variant&intron_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|11/25|c.1688-7dupT||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|4/6|n.*171+626dupT||||||INFO_REALIGN_3_PRIME 22 50564738 . A G . . ANN=G|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|12/26|c.1818+37A>G||||||,G|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|13/27|c.1818+37A>G||||||,G|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|12/25|c.1818+37A>G||||||,G|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|12/21|c.-889+37A>G||||||,G|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|12/25|c.1758+37A>G||||||,G|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|4/6|n.*171+740A>G|||||| 22 50564750 . C A . . ANN=A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|12/26|c.1818+49C>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|13/27|c.1818+49C>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|12/25|c.1818+49C>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|12/21|c.-889+49C>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|12/25|c.1758+49C>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|4/6|n.*171+752C>A|||||| 22 50566807 . T C . . ANN=C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|12/26|c.1819-38T>C||||||,C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|13/27|c.1819-38T>C||||||,C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|12/25|c.1819-38T>C||||||,C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|12/21|c.-888-38T>C||||||,C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|12/25|c.1759-38T>C||||||,C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|4/6|n.*171+2809T>C|||||| 22 50566835 . C T . . ANN=T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|12/26|c.1819-10C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|13/27|c.1819-10C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|12/25|c.1819-10C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|12/21|c.-888-10C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|12/25|c.1759-10C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|4/6|n.*171+2837C>T|||||| 22 50566849 . A G . . ANN=G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|13/27|c.1823A>G|p.His608Arg|1906/3960|1823/3636|608/1211||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|14/28|c.1823A>G|p.His608Arg|1907/3889|1823/3636|608/1211||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|13/26|c.1823A>G|p.His608Arg|1847/3763|1823/3498|608/1165||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|13/26|c.1763A>G|p.His588Arg|1983/3941|1763/3498|588/1165||,G|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|13/22|c.-884A>G|||||21274|,G|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|4/6|n.*171+2851A>G|||||| 22 50566950 . T G . . ANN=G|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|13/26|c.1910+14T>G||||||,G|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|14/27|c.1910+14T>G||||||,G|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|13/25|c.1910+14T>G||||||,G|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|13/21|c.-797+14T>G||||||,G|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|13/25|c.1850+14T>G||||||,G|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|4/6|n.*171+2952T>G|||||| 22 50566969 . CTTTTTTTTTTT C,CTTTTTTTTT . . ANN=|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|13/26|c.1910+45_1910+55delTTTTTTTTTTT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|13/26|c.1910+54_1910+55delTT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|14/27|c.1910+45_1910+55delTTTTTTTTTTT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|14/27|c.1910+54_1910+55delTT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|13/25|c.1910+45_1910+55delTTTTTTTTTTT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|13/25|c.1910+54_1910+55delTT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|13/21|c.-797+45_-797+55delTTTTTTTTTTT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|13/21|c.-797+54_-797+55delTT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|13/25|c.1850+45_1850+55delTTTTTTTTTTT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|13/25|c.1850+54_1850+55delTT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|4/6|n.*171+2983_*171+2993delTTTTTTTTTTT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|4/6|n.*171+2992_*171+2993delTT||||||INFO_REALIGN_3_PRIME 22 50572406 . A G . . ANN=G|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|13/26|c.1911-30A>G||||||,G|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|14/27|c.1911-30A>G||||||,G|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|13/25|c.1911-30A>G||||||,G|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|13/21|c.-796-30A>G||||||,G|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|13/25|c.1851-30A>G||||||,G|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|4/6|n.*172-30A>G|||||| 22 50572473 . G A . . ANN=A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|14/27|c.1948G>A|p.Val650Ile|2031/3960|1948/3636|650/1211||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|15/28|c.1948G>A|p.Val650Ile|2032/3889|1948/3636|650/1211||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|14/26|c.1948G>A|p.Val650Ile|1972/3763|1948/3498|650/1165||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|14/26|c.1888G>A|p.Val630Ile|2108/3941|1888/3498|630/1165||,A|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|14/22|c.-759G>A|||||15650|,A|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|5/7|n.*209G>A|||||8646|,A|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|5/7|n.*209G>A|||||| 22 50572517 . G A . . ANN=A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|14/26|c.1969+23G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|15/27|c.1969+23G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|14/25|c.1969+23G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|14/21|c.-738+23G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|14/25|c.1909+23G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|5/6|n.*230+23G>A|||||| 22 50572542 . T C . . ANN=C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|14/26|c.1969+48T>C||||||,C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|15/27|c.1969+48T>C||||||,C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|14/25|c.1969+48T>C||||||,C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|14/21|c.-738+48T>C||||||,C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|14/25|c.1909+48T>C||||||,C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|5/6|n.*230+48T>C|||||| 22 50572915 . CT C . . ANN=|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|14/26|c.1970-39delT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|15/27|c.1970-39delT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|14/25|c.1970-39delT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|14/21|c.-737-39delT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|14/25|c.1910-39delT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|5/6|n.*231-39delT||||||INFO_REALIGN_3_PRIME 22 50573036 . A G . . ANN=G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|15/27|c.2047A>G|p.Ser683Gly|2130/3960|2047/3636|683/1211||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|16/28|c.2047A>G|p.Ser683Gly|2131/3889|2047/3636|683/1211||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|15/26|c.2047A>G|p.Ser683Gly|2071/3763|2047/3498|683/1165||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|15/26|c.1987A>G|p.Ser663Gly|2207/3941|1987/3498|663/1165||,G|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|15/22|c.-660A>G|||||15087|,G|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|6/7|n.*308A>G|||||9209|,G|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|6/7|n.*308A>G|||||| 22 50573081 . T G . . ANN=G|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|15/26|c.2070+22T>G||||||,G|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|16/27|c.2070+22T>G||||||,G|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|15/25|c.2070+22T>G||||||,G|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|15/21|c.-637+22T>G||||||,G|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|15/25|c.2010+22T>G||||||,G|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|6/6|n.*331+22T>G|||||| 22 50573090 . C G . . ANN=G|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|15/26|c.2070+31C>G||||||,G|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|16/27|c.2070+31C>G||||||,G|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|15/25|c.2070+31C>G||||||,G|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|15/21|c.-637+31C>G||||||,G|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|15/25|c.2010+31C>G||||||,G|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|6/6|n.*331+31C>G|||||| 22 50573106 . G A . . ANN=A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|15/26|c.2070+47G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|16/27|c.2070+47G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|15/25|c.2070+47G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|15/21|c.-637+47G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|15/25|c.2010+47G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|6/6|n.*331+47G>A|||||| 22 50580542 . T A . . ANN=A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|16/27|c.2103T>A|p.His701Gln|2186/3960|2103/3636|701/1211||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|17/28|c.2103T>A|p.His701Gln|2187/3889|2103/3636|701/1211||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|16/26|c.2103T>A|p.His701Gln|2127/3763|2103/3498|701/1165||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|16/26|c.2043T>A|p.His681Gln|2263/3941|2043/3498|681/1165||,A|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|16/22|c.-604T>A|||||7581|,A|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|7/7|n.*364T>A|||||16715|,A|upstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding||c.-178T>A|||||4852|,A|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|7/7|n.*364T>A|||||| 22 50580611 . C T . . ANN=T|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|16/27|c.2172C>T|p.Ser724Ser|2255/3960|2172/3636|724/1211||,T|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|17/28|c.2172C>T|p.Ser724Ser|2256/3889|2172/3636|724/1211||,T|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|16/26|c.2172C>T|p.Ser724Ser|2196/3763|2172/3498|724/1165||,T|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|16/26|c.2112C>T|p.Ser704Ser|2332/3941|2112/3498|704/1165||,T|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|16/22|c.-535C>T|||||7512|,T|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|7/7|n.*433C>T|||||16784|,T|upstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding||c.-178C>T|||||4783|,T|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|7/7|n.*433C>T|||||| 22 50580660 . CTG C . . ANN=|upstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding||c.-178_-178delTG|||||4733|,|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay||n.*500_*500delTG|||||46|,|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|16/26|c.2179+44_2179+45delGT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|17/27|c.2179+44_2179+45delGT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|16/25|c.2179+44_2179+45delGT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|16/21|c.-528+44_-528+45delGT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|16/25|c.2119+44_2119+45delGT||||||INFO_REALIGN_3_PRIME 22 50580665 . G A . . ANN=A|upstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding||c.-178G>A|||||4729|,A|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay||n.*500G>A|||||50|,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|16/26|c.2179+47G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|17/27|c.2179+47G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|16/25|c.2179+47G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|16/21|c.-528+47G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|16/25|c.2119+47G>A|||||| 22 50580668 . T C . . ANN=C|upstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding||c.-178T>C|||||4726|,C|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay||n.*500T>C|||||53|,C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|16/26|c.2179+50T>C||||||,C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|17/27|c.2179+50T>C||||||,C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|16/25|c.2179+50T>C||||||,C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|16/21|c.-528+50T>C||||||,C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|16/25|c.2119+50T>C|||||| 22 50582482 . G A . . ANN=A|upstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding||c.-178G>A|||||2912|,A|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay||n.*500G>A|||||1867|,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|17/26|c.2359-44G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|18/27|c.2359-44G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|17/25|c.2359-44G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|17/21|c.-348-44G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|17/25|c.2299-44G>A|||||| 22 50582550 . C A . . ANN=A|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|18/27|c.2383C>A|p.Arg795Arg|2466/3960|2383/3636|795/1211||,A|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|19/28|c.2383C>A|p.Arg795Arg|2467/3889|2383/3636|795/1211||,A|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|18/26|c.2383C>A|p.Arg795Arg|2407/3763|2383/3498|795/1165||,A|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|18/26|c.2323C>A|p.Arg775Arg|2543/3941|2323/3498|775/1165||,A|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|18/22|c.-324C>A|||||5573|,A|upstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding||c.-178C>A|||||2844|,A|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay||n.*500C>A|||||1935| 22 50582583 . G A . . ANN=A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|18/27|c.2416G>A|p.Ala806Thr|2499/3960|2416/3636|806/1211||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|19/28|c.2416G>A|p.Ala806Thr|2500/3889|2416/3636|806/1211||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|18/26|c.2416G>A|p.Ala806Thr|2440/3763|2416/3498|806/1165||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|18/26|c.2356G>A|p.Ala786Thr|2576/3941|2356/3498|786/1165||,A|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|18/22|c.-291G>A|||||5540|,A|upstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding||c.-178G>A|||||2811|,A|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay||n.*500G>A|||||1968| 22 50582626 . A G . . ANN=G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|18/27|c.2459A>G|p.Gln820Arg|2542/3960|2459/3636|820/1211||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|19/28|c.2459A>G|p.Gln820Arg|2543/3889|2459/3636|820/1211||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|18/26|c.2459A>G|p.Gln820Arg|2483/3763|2459/3498|820/1165||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|18/26|c.2399A>G|p.Gln800Arg|2619/3941|2399/3498|800/1165||,G|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|18/22|c.-248A>G|||||5497|,G|upstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding||c.-178A>G|||||2768|,G|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay||n.*500A>G|||||2011| 22 50582630 . G A . . ANN=A|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|18/27|c.2463G>A|p.Pro821Pro|2546/3960|2463/3636|821/1211||,A|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|19/28|c.2463G>A|p.Pro821Pro|2547/3889|2463/3636|821/1211||,A|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|18/26|c.2463G>A|p.Pro821Pro|2487/3763|2463/3498|821/1165||,A|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|18/26|c.2403G>A|p.Pro801Pro|2623/3941|2403/3498|801/1165||,A|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|18/22|c.-244G>A|||||5493|,A|upstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding||c.-178G>A|||||2764|,A|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay||n.*500G>A|||||2015| 22 50582643 . C T . . ANN=T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|18/27|c.2476C>T|p.Arg826Trp|2559/3960|2476/3636|826/1211||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|19/28|c.2476C>T|p.Arg826Trp|2560/3889|2476/3636|826/1211||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|18/26|c.2476C>T|p.Arg826Trp|2500/3763|2476/3498|826/1165||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|18/26|c.2416C>T|p.Arg806Trp|2636/3941|2416/3498|806/1165||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|18/22|c.-231C>T||||||,T|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|18/22|c.-231C>T|||||5480|,T|upstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding||c.-178C>T|||||2751|,T|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay||n.*500C>T|||||2028| 22 50584123 . T C . . ANN=C|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|19/27|c.2511T>C|p.Val837Val|2594/3960|2511/3636|837/1211||,C|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|20/28|c.2511T>C|p.Val837Val|2595/3889|2511/3636|837/1211||,C|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|19/26|c.2511T>C|p.Val837Val|2535/3763|2511/3498|837/1165||,C|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|19/26|c.2451T>C|p.Val817Val|2671/3941|2451/3498|817/1165||,C|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|19/22|c.-196T>C|||||4000|,C|upstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding||c.-178T>C|||||1271|,C|upstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000354853|protein_coding||c.-306T>C|||||3695|,C|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay||n.*500T>C|||||3508| 22 50584130 . G A . . ANN=A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|19/27|c.2518G>A|p.Ala840Thr|2601/3960|2518/3636|840/1211||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|20/28|c.2518G>A|p.Ala840Thr|2602/3889|2518/3636|840/1211||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|19/26|c.2518G>A|p.Ala840Thr|2542/3763|2518/3498|840/1165||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|19/26|c.2458G>A|p.Ala820Thr|2678/3941|2458/3498|820/1165||,A|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|19/22|c.-189G>A|||||3993|,A|upstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding||c.-178G>A|||||1264|,A|upstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000354853|protein_coding||c.-306G>A|||||3688|,A|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay||n.*500G>A|||||3515| 22 50584201 . A C . . ANN=C|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|19/27|c.2589A>C|p.Thr863Thr|2672/3960|2589/3636|863/1211||,C|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|20/28|c.2589A>C|p.Thr863Thr|2673/3889|2589/3636|863/1211||,C|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|19/26|c.2589A>C|p.Thr863Thr|2613/3763|2589/3498|863/1165||,C|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|19/26|c.2529A>C|p.Thr843Thr|2749/3941|2529/3498|843/1165||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|19/22|c.-118A>C||||||,C|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|19/22|c.-118A>C|||||3922|,C|upstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding||c.-178A>C|||||1193|,C|upstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000354853|protein_coding||c.-306A>C|||||3617|,C|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay||n.*500A>C|||||3586| 22 50584248 . C T . . ANN=T|upstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding||c.-178C>T|||||1146|,T|upstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000354853|protein_coding||c.-306C>T|||||3570|,T|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay||n.*500C>T|||||3633|,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|19/26|c.2627+9C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|20/27|c.2627+9C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|19/25|c.2627+9C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|19/21|c.-80+9C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|19/25|c.2567+9C>T|||||| 22 50584261 . C A . . ANN=A|upstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding||c.-178C>A|||||1133|,A|upstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000354853|protein_coding||c.-306C>A|||||3557|,A|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay||n.*500C>A|||||3646|,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|19/26|c.2627+22C>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|20/27|c.2627+22C>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|19/25|c.2627+22C>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|19/21|c.-80+22C>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|19/25|c.2567+22C>A|||||| 22 50584262 . G A . . ANN=A|upstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding||c.-178G>A|||||1132|,A|upstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000354853|protein_coding||c.-306G>A|||||3556|,A|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay||n.*500G>A|||||3647|,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|19/26|c.2627+23G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|20/27|c.2627+23G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|19/25|c.2627+23G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|19/21|c.-80+23G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|19/25|c.2567+23G>A|||||| 22 50584279 . G C . . ANN=C|upstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding||c.-178G>C|||||1115|,C|upstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000354853|protein_coding||c.-306G>C|||||3539|,C|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay||n.*500G>C|||||3664|,C|TF_binding_site_variant|MODIFIER|||HNF4A|MA0114.1|||||||||,C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|19/26|c.2627+40G>C||||||,C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|20/27|c.2627+40G>C||||||,C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|19/25|c.2627+40G>C||||||,C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|19/21|c.-80+40G>C||||||,C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|19/25|c.2567+40G>C|||||| 22 50584288 . C T . . ANN=T|upstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding||c.-178C>T|||||1106|,T|upstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000354853|protein_coding||c.-306C>T|||||3530|,T|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay||n.*500C>T|||||3673|,T|TF_binding_site_variant|MODIFIER|||HNF4A|MA0114.1|||||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|19/26|c.2627+49C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|20/27|c.2627+49C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|19/25|c.2627+49C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|19/21|c.-80+49C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|19/25|c.2567+49C>T|||||| 22 50588026 . A G . . ANN=G|5_prime_UTR_premature_start_codon_gain_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000354853|protein_coding|1/3|c.-97A>G||||||,G|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000354853|protein_coding|1/3|c.-97A>G|||||97|,G|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|19/26|c.2628-18A>G||||||,G|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|20/27|c.2628-18A>G||||||,G|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|19/25|c.2628-18A>G||||||,G|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|19/21|c.-79-18A>G||||||,G|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|19/25|c.2568-18A>G||||||,G|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding|1/8|c.9-18A>G|||||| 22 50588131 . C T . . ANN=T|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|20/27|c.2715C>T|p.Asp905Asp|2798/3960|2715/3636|905/1211||,T|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|21/28|c.2715C>T|p.Asp905Asp|2799/3889|2715/3636|905/1211||,T|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|20/26|c.2715C>T|p.Asp905Asp|2739/3763|2715/3498|905/1165||,T|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|20/22|c.9C>T|p.Asp3Asp|2717/3086|9/378|3/125||,T|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|20/26|c.2655C>T|p.Asp885Asp|2875/3941|2655/3498|885/1165||,T|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding|2/9|c.96C>T|p.Asp32Asp|273/1422|96/1017|32/338||,T|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000354853|protein_coding|1/3|c.9C>T|p.Asp3Asp|314/1701|9/378|3/125|| 22 50588153 . G A . . ANN=A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|20/26|c.2727+10G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|21/27|c.2727+10G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|20/25|c.2727+10G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|20/21|c.21+10G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|20/25|c.2667+10G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding|2/8|c.108+10G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000354853|protein_coding|1/2|c.21+10G>A|||||| 22 50588163 . T C . . ANN=C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|20/26|c.2727+20T>C||||||,C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|21/27|c.2727+20T>C||||||,C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|20/25|c.2727+20T>C||||||,C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|20/21|c.21+20T>C||||||,C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|20/25|c.2667+20T>C||||||,C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding|2/8|c.108+20T>C||||||,C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000354853|protein_coding|1/2|c.21+20T>C|||||| 22 50588184 . C T . . ANN=T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|20/26|c.2727+41C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|21/27|c.2727+41C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|20/25|c.2727+41C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|20/21|c.21+41C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|20/25|c.2667+41C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding|2/8|c.108+41C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000354853|protein_coding|1/2|c.21+41C>T|||||| 22 50589161 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|20/26|c.2728-3C>T||||||,T|splice_region_variant&intron_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|21/27|c.2728-3C>T||||||,T|splice_region_variant&intron_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|20/25|c.2728-3C>T||||||,T|splice_region_variant&intron_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|20/25|c.2668-3C>T||||||,T|splice_region_variant&intron_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding|2/8|c.109-3C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|20/21|c.21+1018C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000354853|protein_coding|1/2|c.21+1018C>T|||||| 22 50589174 . C T . . ANN=T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|21/27|c.2738C>T|p.Ala913Val|2821/3960|2738/3636|913/1211||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|22/28|c.2738C>T|p.Ala913Val|2822/3889|2738/3636|913/1211||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|21/26|c.2738C>T|p.Ala913Val|2762/3763|2738/3498|913/1165||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|21/26|c.2678C>T|p.Ala893Val|2898/3941|2678/3498|893/1165||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding|3/9|c.119C>T|p.Ala40Val|296/1422|119/1017|40/338||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|20/21|c.21+1031C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000354853|protein_coding|1/2|c.21+1031C>T|||||| 22 50589196 . C A . . ANN=A|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|21/27|c.2760C>A|p.Gly920Gly|2843/3960|2760/3636|920/1211||,A|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|22/28|c.2760C>A|p.Gly920Gly|2844/3889|2760/3636|920/1211||,A|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|21/26|c.2760C>A|p.Gly920Gly|2784/3763|2760/3498|920/1165||,A|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|21/26|c.2700C>A|p.Gly900Gly|2920/3941|2700/3498|900/1165||,A|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding|3/9|c.141C>A|p.Gly47Gly|318/1422|141/1017|47/338||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|20/21|c.21+1053C>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000354853|protein_coding|1/2|c.21+1053C>A|||||| 22 50591455 . C T . . ANN=T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|21/26|c.2893-19C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|22/27|c.2893-19C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|21/25|c.2893-19C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|20/21|c.22-19C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|21/25|c.2833-19C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding|3/8|c.274-19C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000354853|protein_coding|1/2|c.22-19C>T|||||| 22 50591459 . A G . . ANN=G|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|21/26|c.2893-15A>G||||||,G|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|22/27|c.2893-15A>G||||||,G|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|21/25|c.2893-15A>G||||||,G|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|20/21|c.22-15A>G||||||,G|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|21/25|c.2833-15A>G||||||,G|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding|3/8|c.274-15A>G||||||,G|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000354853|protein_coding|1/2|c.22-15A>G|||||| 22 50591469 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|21/26|c.2893-5C>T||||||,T|splice_region_variant&intron_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|22/27|c.2893-5C>T||||||,T|splice_region_variant&intron_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|21/25|c.2893-5C>T||||||,T|splice_region_variant&intron_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|20/21|c.22-5C>T||||||,T|splice_region_variant&intron_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|21/25|c.2833-5C>T||||||,T|splice_region_variant&intron_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding|3/8|c.274-5C>T||||||,T|splice_region_variant&intron_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000354853|protein_coding|1/2|c.22-5C>T|||||| 22 50591470 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|21/26|c.2893-4G>A||||||,A|splice_region_variant&intron_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|22/27|c.2893-4G>A||||||,A|splice_region_variant&intron_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|21/25|c.2893-4G>A||||||,A|splice_region_variant&intron_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|20/21|c.22-4G>A||||||,A|splice_region_variant&intron_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|21/25|c.2833-4G>A||||||,A|splice_region_variant&intron_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding|3/8|c.274-4G>A||||||,A|splice_region_variant&intron_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000354853|protein_coding|1/2|c.22-4G>A|||||| 22 50591521 . G A . . ANN=A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|22/27|c.2940G>A|p.Met980Ile|3023/3960|2940/3636|980/1211||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|23/28|c.2940G>A|p.Met980Ile|3024/3889|2940/3636|980/1211||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|22/26|c.2940G>A|p.Met980Ile|2964/3763|2940/3498|980/1165||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|21/22|c.69G>A|p.Met23Ile|2777/3086|69/378|23/125||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|22/26|c.2880G>A|p.Met960Ile|3100/3941|2880/3498|960/1165||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding|4/9|c.321G>A|p.Met107Ile|498/1422|321/1017|107/338||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000354853|protein_coding|2/3|c.69G>A|p.Met23Ile|374/1701|69/378|23/125|| 22 50591566 . G A . . ANN=A|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|22/27|c.2985G>A|p.Ala995Ala|3068/3960|2985/3636|995/1211||,A|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|23/28|c.2985G>A|p.Ala995Ala|3069/3889|2985/3636|995/1211||,A|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|22/26|c.2985G>A|p.Ala995Ala|3009/3763|2985/3498|995/1165||,A|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|21/22|c.114G>A|p.Ala38Ala|2822/3086|114/378|38/125||,A|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|22/26|c.2925G>A|p.Ala975Ala|3145/3941|2925/3498|975/1165||,A|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding|4/9|c.366G>A|p.Ala122Ala|543/1422|366/1017|122/338||,A|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000354853|protein_coding|2/3|c.114G>A|p.Ala38Ala|419/1701|114/378|38/125|| 22 50591668 . G A . . ANN=A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|22/26|c.3066+21G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|23/27|c.3066+21G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|22/25|c.3066+21G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|21/21|c.195+21G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|22/25|c.3006+21G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding|4/8|c.447+21G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000354853|protein_coding|2/2|c.195+21G>A|||||| 22 50591677 . C T . . ANN=T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|22/26|c.3066+30C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|23/27|c.3066+30C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|22/25|c.3066+30C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|21/21|c.195+30C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|22/25|c.3006+30C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding|4/8|c.447+30C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000354853|protein_coding|2/2|c.195+30C>T|||||| 22 50591678 . G A . . ANN=A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|22/26|c.3066+31G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|23/27|c.3066+31G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|22/25|c.3066+31G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|21/21|c.195+31G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|22/25|c.3006+31G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding|4/8|c.447+31G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000354853|protein_coding|2/2|c.195+31G>A|||||| 22 50591683 . G A . . ANN=A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|22/26|c.3066+36G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|23/27|c.3066+36G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|22/25|c.3066+36G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|21/21|c.195+36G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|22/25|c.3006+36G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding|4/8|c.447+36G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000354853|protein_coding|2/2|c.195+36G>A|||||| 22 50596612 . G A . . ANN=A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|23/27|c.3193G>A|p.Val1065Ile|3276/3960|3193/3636|1065/1211||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|24/28|c.3193G>A|p.Val1065Ile|3277/3889|3193/3636|1065/1211||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|23/26|c.3193G>A|p.Val1065Ile|3217/3763|3193/3498|1065/1165||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|22/22|c.322G>A|p.Val108Ile|3030/3086|322/378|108/125||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|23/26|c.3133G>A|p.Val1045Ile|3353/3941|3133/3498|1045/1165||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding|5/9|c.574G>A|p.Val192Ile|751/1422|574/1017|192/338||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000354853|protein_coding|3/3|c.322G>A|p.Val108Ile|627/1701|322/378|108/125|| 22 50596651 . G T . . ANN=T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|22/22|c.361G>T|p.Ala121Ser|3069/3086|361/378|121/125||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000354853|protein_coding|3/3|c.361G>T|p.Ala121Ser|666/1701|361/378|121/125||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|23/26|c.3216+16G>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|24/27|c.3216+16G>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|23/25|c.3216+16G>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|23/25|c.3156+16G>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding|5/8|c.597+16G>T|||||| 22 50596655 . G A . . ANN=A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|22/22|c.365G>A|p.Arg122His|3073/3086|365/378|122/125||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000354853|protein_coding|3/3|c.365G>A|p.Arg122His|670/1701|365/378|122/125||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|23/26|c.3216+20G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|24/27|c.3216+20G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|23/25|c.3216+20G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|23/25|c.3156+20G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding|5/8|c.597+20G>A|||||| 22 50598109 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|24/27|c.3219G>A|p.Val1073Val|3302/3960|3219/3636|1073/1211||,A|splice_region_variant&synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|25/28|c.3219G>A|p.Val1073Val|3303/3889|3219/3636|1073/1211||,A|splice_region_variant&synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|24/26|c.3219G>A|p.Val1073Val|3243/3763|3219/3498|1073/1165||,A|splice_region_variant&synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|24/26|c.3159G>A|p.Val1053Val|3379/3941|3159/3498|1053/1165||,A|splice_region_variant&synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding|6/9|c.600G>A|p.Val200Val|777/1422|600/1017|200/338||,A|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding||c.*3086G>A|||||1441|,A|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000354853|protein_coding||c.*683G>A|||||423| 22 50598136 . T C . . ANN=C|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|24/27|c.3246T>C|p.Asn1082Asn|3329/3960|3246/3636|1082/1211||,C|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|25/28|c.3246T>C|p.Asn1082Asn|3330/3889|3246/3636|1082/1211||,C|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|24/26|c.3246T>C|p.Asn1082Asn|3270/3763|3246/3498|1082/1165||,C|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|24/26|c.3186T>C|p.Asn1062Asn|3406/3941|3186/3498|1062/1165||,C|synonymous_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding|6/9|c.627T>C|p.Asn209Asn|804/1422|627/1017|209/338||,C|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding||c.*3086T>C|||||1468|,C|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000354853|protein_coding||c.*683T>C|||||450| 22 50598233 . C T . . ANN=T|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding||c.*3086C>T|||||1565|,T|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000354853|protein_coding||c.*683C>T|||||547|,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|24/26|c.3324+19C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|25/27|c.3324+19C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|24/25|c.3324+19C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|24/25|c.3264+19C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding|6/8|c.705+19C>T|||||| 22 50599111 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|24/26|c.3325-6T>C||||||,C|splice_region_variant&intron_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|25/27|c.3325-6T>C||||||,C|splice_region_variant&intron_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|24/25|c.3265-6T>C||||||,C|splice_region_variant&intron_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding|6/8|c.706-6T>C||||||,C|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding||c.*3086T>C|||||2443|,C|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000354853|protein_coding||c.*683T>C|||||1425|,C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|24/25|c.3325-282T>C|||||| 22 50599253 . G A . . ANN=A|missense_variant&splice_region_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|25/27|c.3461G>A|p.Arg1154Gln|3544/3960|3461/3636|1154/1211||,A|missense_variant&splice_region_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|26/28|c.3461G>A|p.Arg1154Gln|3545/3889|3461/3636|1154/1211||,A|missense_variant&splice_region_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|25/26|c.3401G>A|p.Arg1134Gln|3621/3941|3401/3498|1134/1165||,A|missense_variant&splice_region_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding|7/9|c.842G>A|p.Arg281Gln|1019/1422|842/1017|281/338||,A|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding||c.*3086G>A|||||2585|,A|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000354853|protein_coding||c.*683G>A|||||1567|,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|24/25|c.3325-140G>A|||||| 22 50599344 . A T . . ANN=T|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding||c.*3086A>T|||||2676|,T|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000354853|protein_coding||c.*683A>T|||||1658|,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|25/26|c.3463-49A>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|26/27|c.3463-49A>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|24/25|c.3325-49A>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|25/25|c.3402+90A>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding|7/8|c.844-49A>T|||||| 22 50599383 . T C . . ANN=C|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding||c.*3086T>C|||||2715|,C|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000354853|protein_coding||c.*683T>C|||||1697|,C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|25/26|c.3463-10T>C||||||,C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|26/27|c.3463-10T>C||||||,C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|24/25|c.3325-10T>C||||||,C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|25/25|c.3402+129T>C||||||,C|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding|7/8|c.844-10T>C|||||| 22 50599466 . C A . . ANN=A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|26/27|c.3536C>A|p.Ala1179Glu|3619/3960|3536/3636|1179/1211||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|27/28|c.3536C>A|p.Ala1179Glu|3620/3889|3536/3636|1179/1211||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|25/26|c.3398C>A|p.Ala1133Glu|3422/3763|3398/3498|1133/1165||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding|8/9|c.917C>A|p.Ala306Glu|1094/1422|917/1017|306/338||,A|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding||c.*3086C>A|||||2798|,A|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000354853|protein_coding||c.*683C>A|||||1780|,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|25/25|c.3402+212C>A|||||| 22 50599491 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|26/26|c.3554+7G>A||||||,A|splice_region_variant&intron_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|27/27|c.3554+7G>A||||||,A|splice_region_variant&intron_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|25/25|c.3416+7G>A||||||,A|splice_region_variant&intron_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding|8/8|c.935+7G>A||||||,A|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding||c.*3086G>A|||||2823|,A|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000354853|protein_coding||c.*683G>A|||||1805|,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|25/25|c.3402+237G>A|||||| 22 50599777 . C T . . ANN=T|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding||c.*3086C>T|||||3109|,T|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000354853|protein_coding||c.*683C>T|||||2091|,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|26/26|c.3555-20C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|27/27|c.3555-20C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|25/25|c.3417-20C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|25/25|c.3403-20C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding|8/8|c.936-20C>T|||||| 22 50609407 . C A . . ANN=A|sequence_feature|LOW|PANX2|ENSG00000073150|topological_domain:Extracellular|ENST00000395842|protein_coding|2/3|c.226+22C>A||||||,A|sequence_feature|LOW|PANX2|ENSG00000073150|topological_domain:Extracellular|ENST00000395842|protein_coding|1/3|c.226+22C>A||||||,A|sequence_feature|LOW|PANX2|ENSG00000073150|topological_domain:Extracellular|ENST00000159647|protein_coding|2/4|c.226+22C>A||||||,A|sequence_feature|LOW|PANX2|ENSG00000073150|topological_domain:Extracellular|ENST00000159647|protein_coding|1/4|c.226+22C>A||||||,A|intron_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000395842|protein_coding|1/2|c.226+22C>A||||||,A|intron_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000159647|protein_coding|1/3|c.226+22C>A||||||,A|intron_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000402472|nonsense_mediated_decay|1/4|n.196+22C>A|||||| 22 50615417 . G A . . ANN=A|synonymous_variant|LOW|PANX2|ENSG00000073150|transcript|ENST00000395842|protein_coding|2/3|c.276G>A|p.Ala92Ala|276/3051|276/2034|92/677||,A|synonymous_variant|LOW|PANX2|ENSG00000073150|transcript|ENST00000159647|protein_coding|2/4|c.276G>A|p.Ala92Ala|276/2964|276/1932|92/643||,A|sequence_feature|LOW|PANX2|ENSG00000073150|topological_domain:Extracellular|ENST00000395842|protein_coding|2/3|c.276G>A||||||,A|sequence_feature|LOW|PANX2|ENSG00000073150|topological_domain:Extracellular|ENST00000395842|protein_coding|1/3|c.276G>A||||||,A|sequence_feature|LOW|PANX2|ENSG00000073150|topological_domain:Extracellular|ENST00000159647|protein_coding|2/4|c.276G>A||||||,A|sequence_feature|LOW|PANX2|ENSG00000073150|topological_domain:Extracellular|ENST00000159647|protein_coding|1/4|c.276G>A||||||,A|3_prime_UTR_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000402472|nonsense_mediated_decay|3/5|n.*63G>A|||||1519|,A|non_coding_exon_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000402472|nonsense_mediated_decay|3/5|n.*63G>A|||||| 22 50616005 . C G . . ANN=G|synonymous_variant|LOW|PANX2|ENSG00000073150|transcript|ENST00000395842|protein_coding|2/3|c.864C>G|p.Arg288Arg|864/3051|864/2034|288/677||,G|synonymous_variant|LOW|PANX2|ENSG00000073150|transcript|ENST00000159647|protein_coding|2/4|c.864C>G|p.Arg288Arg|864/2964|864/1932|288/643||,G|sequence_feature|LOW|PANX2|ENSG00000073150|topological_domain:Extracellular|ENST00000395842|protein_coding|2/3|c.864C>G||||||,G|sequence_feature|LOW|PANX2|ENSG00000073150|topological_domain:Extracellular|ENST00000159647|protein_coding|2/4|c.864C>G||||||,G|3_prime_UTR_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000402472|nonsense_mediated_decay|3/5|n.*651C>G|||||2107|,G|non_coding_exon_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000402472|nonsense_mediated_decay|3/5|n.*651C>G|||||| 22 50616122 . G A . . ANN=A|synonymous_variant|LOW|PANX2|ENSG00000073150|transcript|ENST00000395842|protein_coding|2/3|c.981G>A|p.Lys327Lys|981/3051|981/2034|327/677||,A|synonymous_variant|LOW|PANX2|ENSG00000073150|transcript|ENST00000159647|protein_coding|2/4|c.981G>A|p.Lys327Lys|981/2964|981/1932|327/643||,A|sequence_feature|LOW|PANX2|ENSG00000073150|topological_domain:Cytoplasmic|ENST00000395842|protein_coding|2/3|c.981G>A||||||,A|sequence_feature|LOW|PANX2|ENSG00000073150|topological_domain:Cytoplasmic|ENST00000395842|protein_coding|3/3|c.981G>A||||||,A|3_prime_UTR_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000402472|nonsense_mediated_decay|3/5|n.*768G>A|||||2224|,A|non_coding_exon_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000402472|nonsense_mediated_decay|3/5|n.*768G>A|||||| 22 50616215 . C A . . ANN=A|synonymous_variant|LOW|PANX2|ENSG00000073150|transcript|ENST00000395842|protein_coding|2/3|c.1074C>A|p.Ile358Ile|1074/3051|1074/2034|358/677||,A|synonymous_variant|LOW|PANX2|ENSG00000073150|transcript|ENST00000159647|protein_coding|2/4|c.1074C>A|p.Ile358Ile|1074/2964|1074/1932|358/643||,A|sequence_feature|LOW|PANX2|ENSG00000073150|topological_domain:Cytoplasmic|ENST00000395842|protein_coding|2/3|c.1074C>A||||||,A|sequence_feature|LOW|PANX2|ENSG00000073150|topological_domain:Cytoplasmic|ENST00000395842|protein_coding|3/3|c.1074C>A||||||,A|3_prime_UTR_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000402472|nonsense_mediated_decay|3/5|n.*861C>A|||||2317|,A|non_coding_exon_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000402472|nonsense_mediated_decay|3/5|n.*861C>A|||||| 22 50616224 . C G . . ANN=G|synonymous_variant|LOW|PANX2|ENSG00000073150|transcript|ENST00000395842|protein_coding|2/3|c.1083C>G|p.Leu361Leu|1083/3051|1083/2034|361/677||,G|synonymous_variant|LOW|PANX2|ENSG00000073150|transcript|ENST00000159647|protein_coding|2/4|c.1083C>G|p.Leu361Leu|1083/2964|1083/1932|361/643||,G|sequence_feature|LOW|PANX2|ENSG00000073150|topological_domain:Cytoplasmic|ENST00000395842|protein_coding|2/3|c.1083C>G||||||,G|sequence_feature|LOW|PANX2|ENSG00000073150|topological_domain:Cytoplasmic|ENST00000395842|protein_coding|3/3|c.1083C>G||||||,G|3_prime_UTR_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000402472|nonsense_mediated_decay|3/5|n.*870C>G|||||2326|,G|non_coding_exon_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000402472|nonsense_mediated_decay|3/5|n.*870C>G|||||| 22 50616266 . C T . . ANN=T|synonymous_variant|LOW|PANX2|ENSG00000073150|transcript|ENST00000395842|protein_coding|2/3|c.1125C>T|p.Tyr375Tyr|1125/3051|1125/2034|375/677||,T|synonymous_variant|LOW|PANX2|ENSG00000073150|transcript|ENST00000159647|protein_coding|2/4|c.1125C>T|p.Tyr375Tyr|1125/2964|1125/1932|375/643||,T|sequence_feature|LOW|PANX2|ENSG00000073150|topological_domain:Cytoplasmic|ENST00000395842|protein_coding|2/3|c.1125C>T||||||,T|sequence_feature|LOW|PANX2|ENSG00000073150|topological_domain:Cytoplasmic|ENST00000395842|protein_coding|3/3|c.1125C>T||||||,T|3_prime_UTR_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000402472|nonsense_mediated_decay|3/5|n.*912C>T|||||2368|,T|non_coding_exon_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000402472|nonsense_mediated_decay|3/5|n.*912C>T|||||| 22 50616322 . C A . . ANN=A|missense_variant|MODERATE|PANX2|ENSG00000073150|transcript|ENST00000395842|protein_coding|2/3|c.1181C>A|p.Thr394Asn|1181/3051|1181/2034|394/677||,A|missense_variant|MODERATE|PANX2|ENSG00000073150|transcript|ENST00000159647|protein_coding|2/4|c.1181C>A|p.Thr394Asn|1181/2964|1181/1932|394/643||,A|sequence_feature|LOW|PANX2|ENSG00000073150|topological_domain:Cytoplasmic|ENST00000395842|protein_coding|2/3|c.1181C>A||||||,A|sequence_feature|LOW|PANX2|ENSG00000073150|topological_domain:Cytoplasmic|ENST00000395842|protein_coding|3/3|c.1181C>A||||||,A|3_prime_UTR_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000402472|nonsense_mediated_decay|3/5|n.*968C>A|||||2424|,A|non_coding_exon_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000402472|nonsense_mediated_decay|3/5|n.*968C>A|||||| 22 50616386 . C T . . ANN=T|synonymous_variant|LOW|PANX2|ENSG00000073150|transcript|ENST00000395842|protein_coding|2/3|c.1245C>T|p.Asp415Asp|1245/3051|1245/2034|415/677||,T|synonymous_variant|LOW|PANX2|ENSG00000073150|transcript|ENST00000159647|protein_coding|2/4|c.1245C>T|p.Asp415Asp|1245/2964|1245/1932|415/643||,T|sequence_feature|LOW|PANX2|ENSG00000073150|topological_domain:Cytoplasmic|ENST00000395842|protein_coding|2/3|c.1245C>T||||||,T|sequence_feature|LOW|PANX2|ENSG00000073150|topological_domain:Cytoplasmic|ENST00000395842|protein_coding|3/3|c.1245C>T||||||,T|3_prime_UTR_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000402472|nonsense_mediated_decay|3/5|n.*1032C>T|||||2488|,T|non_coding_exon_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000402472|nonsense_mediated_decay|3/5|n.*1032C>T|||||| 22 50616646 . C A . . ANN=A|missense_variant|MODERATE|PANX2|ENSG00000073150|transcript|ENST00000395842|protein_coding|2/3|c.1505C>A|p.Pro502Gln|1505/3051|1505/2034|502/677||,A|missense_variant|MODERATE|PANX2|ENSG00000073150|transcript|ENST00000159647|protein_coding|2/4|c.1505C>A|p.Pro502Gln|1505/2964|1505/1932|502/643||,A|sequence_feature|LOW|PANX2|ENSG00000073150|topological_domain:Cytoplasmic|ENST00000395842|protein_coding|2/3|c.1505C>A||||||,A|sequence_feature|LOW|PANX2|ENSG00000073150|topological_domain:Cytoplasmic|ENST00000395842|protein_coding|3/3|c.1505C>A||||||,A|3_prime_UTR_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000402472|nonsense_mediated_decay|3/5|n.*1292C>A|||||2748|,A|non_coding_exon_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000402472|nonsense_mediated_decay|3/5|n.*1292C>A|||||| 22 50616656 . T C . . ANN=C|synonymous_variant|LOW|PANX2|ENSG00000073150|transcript|ENST00000395842|protein_coding|2/3|c.1515T>C|p.Pro505Pro|1515/3051|1515/2034|505/677||,C|synonymous_variant|LOW|PANX2|ENSG00000073150|transcript|ENST00000159647|protein_coding|2/4|c.1515T>C|p.Pro505Pro|1515/2964|1515/1932|505/643||,C|sequence_feature|LOW|PANX2|ENSG00000073150|topological_domain:Cytoplasmic|ENST00000395842|protein_coding|2/3|c.1515T>C||||||,C|sequence_feature|LOW|PANX2|ENSG00000073150|topological_domain:Cytoplasmic|ENST00000395842|protein_coding|3/3|c.1515T>C||||||,C|3_prime_UTR_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000402472|nonsense_mediated_decay|3/5|n.*1302T>C|||||2758|,C|non_coding_exon_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000402472|nonsense_mediated_decay|3/5|n.*1302T>C|||||| 22 50616806 . A G . . ANN=G|synonymous_variant|LOW|PANX2|ENSG00000073150|transcript|ENST00000395842|protein_coding|2/3|c.1665A>G|p.Leu555Leu|1665/3051|1665/2034|555/677||,G|synonymous_variant|LOW|PANX2|ENSG00000073150|transcript|ENST00000159647|protein_coding|2/4|c.1665A>G|p.Leu555Leu|1665/2964|1665/1932|555/643||,G|sequence_feature|LOW|PANX2|ENSG00000073150|topological_domain:Cytoplasmic|ENST00000395842|protein_coding|2/3|c.1665A>G||||||,G|sequence_feature|LOW|PANX2|ENSG00000073150|topological_domain:Cytoplasmic|ENST00000395842|protein_coding|3/3|c.1665A>G||||||,G|3_prime_UTR_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000402472|nonsense_mediated_decay|3/5|n.*1452A>G|||||2908|,G|non_coding_exon_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000402472|nonsense_mediated_decay|3/5|n.*1452A>G|||||| 22 50616841 . G C . . ANN=C|sequence_feature|LOW|PANX2|ENSG00000073150|topological_domain:Cytoplasmic|ENST00000395842|protein_coding|2/3|c.1690+10G>C||||||,C|sequence_feature|LOW|PANX2|ENSG00000073150|topological_domain:Cytoplasmic|ENST00000395842|protein_coding|3/3|c.1690+10G>C||||||,C|intron_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000395842|protein_coding|2/2|c.1690+10G>C||||||,C|intron_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000159647|protein_coding|2/3|c.1690+10G>C||||||,C|intron_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000402472|nonsense_mediated_decay|3/4|n.*1477+10G>C|||||| 22 50616851 . G C . . ANN=C|sequence_feature|LOW|PANX2|ENSG00000073150|topological_domain:Cytoplasmic|ENST00000395842|protein_coding|2/3|c.1690+20G>C||||||,C|sequence_feature|LOW|PANX2|ENSG00000073150|topological_domain:Cytoplasmic|ENST00000395842|protein_coding|3/3|c.1690+20G>C||||||,C|intron_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000395842|protein_coding|2/2|c.1690+20G>C||||||,C|intron_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000159647|protein_coding|2/3|c.1690+20G>C||||||,C|intron_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000402472|nonsense_mediated_decay|3/4|n.*1477+20G>C|||||| 22 50617355 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|PANX2|ENSG00000073150|transcript|ENST00000395842|protein_coding|2/2|c.1691-8G>A||||||,A|splice_region_variant&intron_variant|LOW|PANX2|ENSG00000073150|transcript|ENST00000159647|protein_coding|2/3|c.1691-8G>A||||||,A|splice_region_variant&intron_variant|LOW|PANX2|ENSG00000073150|transcript|ENST00000402472|nonsense_mediated_decay|3/4|n.*1478-8G>A||||||,A|sequence_feature|LOW|PANX2|ENSG00000073150|topological_domain:Cytoplasmic|ENST00000395842|protein_coding|2/3|c.1691-8G>A||||||,A|sequence_feature|LOW|PANX2|ENSG00000073150|topological_domain:Cytoplasmic|ENST00000395842|protein_coding|3/3|c.1691-8G>A|||||| 22 50617443 . G A . . ANN=A|missense_variant|MODERATE|PANX2|ENSG00000073150|transcript|ENST00000395842|protein_coding|3/3|c.1771G>A|p.Val591Ile|1771/3051|1771/2034|591/677||,A|missense_variant|MODERATE|PANX2|ENSG00000073150|transcript|ENST00000159647|protein_coding|3/4|c.1771G>A|p.Val591Ile|1771/2964|1771/1932|591/643||,A|sequence_feature|LOW|PANX2|ENSG00000073150|topological_domain:Cytoplasmic|ENST00000395842|protein_coding|2/3|c.1771G>A||||||,A|sequence_feature|LOW|PANX2|ENSG00000073150|topological_domain:Cytoplasmic|ENST00000395842|protein_coding|3/3|c.1771G>A||||||,A|3_prime_UTR_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000402472|nonsense_mediated_decay|4/5|n.*1558G>A|||||3545|,A|non_coding_exon_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000402472|nonsense_mediated_decay|4/5|n.*1558G>A|||||| 22 50617544 . G A . . ANN=A|synonymous_variant|LOW|PANX2|ENSG00000073150|transcript|ENST00000395842|protein_coding|3/3|c.1872G>A|p.Pro624Pro|1872/3051|1872/2034|624/677||,A|synonymous_variant|LOW|PANX2|ENSG00000073150|transcript|ENST00000159647|protein_coding|3/4|c.1872G>A|p.Pro624Pro|1872/2964|1872/1932|624/643||,A|sequence_feature|LOW|PANX2|ENSG00000073150|topological_domain:Cytoplasmic|ENST00000395842|protein_coding|2/3|c.1872G>A||||||,A|sequence_feature|LOW|PANX2|ENSG00000073150|topological_domain:Cytoplasmic|ENST00000395842|protein_coding|3/3|c.1872G>A||||||,A|3_prime_UTR_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000402472|nonsense_mediated_decay|4/5|n.*1659G>A|||||3646|,A|non_coding_exon_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000402472|nonsense_mediated_decay|4/5|n.*1659G>A|||||| 22 50617574 . C A . . ANN=A|synonymous_variant|LOW|PANX2|ENSG00000073150|transcript|ENST00000395842|protein_coding|3/3|c.1902C>A|p.Ala634Ala|1902/3051|1902/2034|634/677||,A|sequence_feature|LOW|PANX2|ENSG00000073150|topological_domain:Cytoplasmic|ENST00000395842|protein_coding|2/3|c.1902C>A||||||,A|sequence_feature|LOW|PANX2|ENSG00000073150|topological_domain:Cytoplasmic|ENST00000395842|protein_coding|3/3|c.1902C>A||||||,A|intron_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000159647|protein_coding|3/3|c.1892+10C>A||||||,A|intron_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000402472|nonsense_mediated_decay|4/4|n.*1679+10C>A|||||| 22 50617589 . C T . . ANN=T|synonymous_variant|LOW|PANX2|ENSG00000073150|transcript|ENST00000395842|protein_coding|3/3|c.1917C>T|p.Asp639Asp|1917/3051|1917/2034|639/677||,T|sequence_feature|LOW|PANX2|ENSG00000073150|topological_domain:Cytoplasmic|ENST00000395842|protein_coding|2/3|c.1917C>T||||||,T|sequence_feature|LOW|PANX2|ENSG00000073150|topological_domain:Cytoplasmic|ENST00000395842|protein_coding|3/3|c.1917C>T||||||,T|intron_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000159647|protein_coding|3/3|c.1892+25C>T||||||,T|intron_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000402472|nonsense_mediated_decay|4/4|n.*1679+25C>T|||||| 22 50617595 . C T . . ANN=T|synonymous_variant|LOW|PANX2|ENSG00000073150|transcript|ENST00000395842|protein_coding|3/3|c.1923C>T|p.Gly641Gly|1923/3051|1923/2034|641/677||,T|sequence_feature|LOW|PANX2|ENSG00000073150|topological_domain:Cytoplasmic|ENST00000395842|protein_coding|2/3|c.1923C>T||||||,T|sequence_feature|LOW|PANX2|ENSG00000073150|topological_domain:Cytoplasmic|ENST00000395842|protein_coding|3/3|c.1923C>T||||||,T|intron_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000159647|protein_coding|3/3|c.1892+31C>T||||||,T|intron_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000402472|nonsense_mediated_decay|4/4|n.*1679+31C>T|||||| 22 50617599 . C T . . ANN=T|missense_variant|MODERATE|PANX2|ENSG00000073150|transcript|ENST00000395842|protein_coding|3/3|c.1927C>T|p.Arg643Cys|1927/3051|1927/2034|643/677||,T|sequence_feature|LOW|PANX2|ENSG00000073150|topological_domain:Cytoplasmic|ENST00000395842|protein_coding|2/3|c.1927C>T||||||,T|sequence_feature|LOW|PANX2|ENSG00000073150|topological_domain:Cytoplasmic|ENST00000395842|protein_coding|3/3|c.1927C>T||||||,T|intron_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000159647|protein_coding|3/3|c.1892+35C>T||||||,T|intron_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000402472|nonsense_mediated_decay|4/4|n.*1679+35C>T|||||| 22 50617606 . C T . . ANN=T|missense_variant|MODERATE|PANX2|ENSG00000073150|transcript|ENST00000395842|protein_coding|3/3|c.1934C>T|p.Pro645Leu|1934/3051|1934/2034|645/677||,T|intron_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000159647|protein_coding|3/3|c.1892+42C>T||||||,T|intron_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000402472|nonsense_mediated_decay|4/4|n.*1679+42C>T|||||| 22 50617618 . G A . . ANN=A|missense_variant|MODERATE|PANX2|ENSG00000073150|transcript|ENST00000395842|protein_coding|3/3|c.1946G>A|p.Gly649Glu|1946/3051|1946/2034|649/677||,A|intron_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000159647|protein_coding|3/3|c.1893-32G>A||||||,A|intron_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000402472|nonsense_mediated_decay|4/4|n.*1680-32G>A|||||| 22 50617653 . C T . . ANN=T|missense_variant|MODERATE|PANX2|ENSG00000073150|transcript|ENST00000395842|protein_coding|3/3|c.1981C>T|p.Leu661Phe|1981/3051|1981/2034|661/677||,T|synonymous_variant|LOW|PANX2|ENSG00000073150|transcript|ENST00000159647|protein_coding|4/4|c.1896C>T|p.Ser632Ser|1896/2964|1896/1932|632/643||,T|3_prime_UTR_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000402472|nonsense_mediated_decay|5/5|n.*1683C>T|||||3755|,T|non_coding_exon_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000402472|nonsense_mediated_decay|5/5|n.*1683C>T|||||| 22 50617717 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000395842|protein_coding|3/3|c.*11C>T|||||11|,T|3_prime_UTR_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000159647|protein_coding|4/4|c.*28C>T|||||28|,T|3_prime_UTR_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000402472|nonsense_mediated_decay|5/5|n.*1747C>T|||||3819|,T|non_coding_exon_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000402472|nonsense_mediated_decay|5/5|n.*1747C>T|||||| 22 50617726 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000395842|protein_coding|3/3|c.*20C>T|||||20|,T|3_prime_UTR_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000159647|protein_coding|4/4|c.*37C>T|||||37|,T|3_prime_UTR_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000402472|nonsense_mediated_decay|5/5|n.*1756C>T|||||3828|,T|non_coding_exon_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000402472|nonsense_mediated_decay|5/5|n.*1756C>T|||||| 22 50617738 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000395842|protein_coding|3/3|c.*32C>T|||||32|,T|3_prime_UTR_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000159647|protein_coding|4/4|c.*49C>T|||||49|,T|3_prime_UTR_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000402472|nonsense_mediated_decay|5/5|n.*1768C>T|||||3840|,T|non_coding_exon_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000402472|nonsense_mediated_decay|5/5|n.*1768C>T|||||| 22 50631562 . G A . . ANN=A|upstream_gene_variant|MODIFIER|RP3-402G11.25|ENSG00000273188|transcript|ENST00000607943|antisense||n.-1C>T|||||731|,A|upstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000472677|retained_intron||n.-1G>A|||||3760|,A|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395829|protein_coding|1/9|c.33+40G>A||||||,A|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000380909|protein_coding|2/9|c.33+40G>A||||||,A|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000303434|protein_coding|2/9|c.33+40G>A||||||,A|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000463233|retained_intron|2/8|n.151+40G>A||||||,A|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395827|protein_coding|2/9|c.33+40G>A|||||| 22 50631963 . G A . . ANN=A|upstream_gene_variant|MODIFIER|RP3-402G11.25|ENSG00000273188|transcript|ENST00000607943|antisense||n.-1C>T|||||1132|,A|upstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000472677|retained_intron||n.-1G>A|||||3359|,A|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395829|protein_coding|1/9|c.34-42G>A||||||,A|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000380909|protein_coding|2/9|c.34-42G>A||||||,A|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000303434|protein_coding|2/9|c.34-42G>A||||||,A|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000463233|retained_intron|2/8|n.152-42G>A||||||,A|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395827|protein_coding|2/9|c.34-42G>A|||||| 22 50632028 . G A . . ANN=A|synonymous_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000395829|protein_coding|2/10|c.57G>A|p.Pro19Pro|104/1628|57/1140|19/379||,A|synonymous_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000380909|protein_coding|3/10|c.57G>A|p.Pro19Pro|153/2272|57/1131|19/376||,A|synonymous_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000303434|protein_coding|3/10|c.57G>A|p.Pro19Pro|176/2329|57/1131|19/376||,A|synonymous_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000395827|protein_coding|3/10|c.57G>A|p.Pro19Pro|142/2172|57/1131|19/376||,A|upstream_gene_variant|MODIFIER|RP3-402G11.25|ENSG00000273188|transcript|ENST00000607943|antisense||n.-1C>T|||||1197|,A|upstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000472677|retained_intron||n.-1G>A|||||3294|,A|non_coding_exon_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000463233|retained_intron|3/9|n.175G>A|||||| 22 50632110 . G A . . ANN=A|upstream_gene_variant|MODIFIER|RP3-402G11.25|ENSG00000273188|transcript|ENST00000607943|antisense||n.-1C>T|||||1279|,A|upstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000472677|retained_intron||n.-1G>A|||||3212|,A|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395829|protein_coding|2/9|c.112+27G>A||||||,A|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000380909|protein_coding|3/9|c.112+27G>A||||||,A|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000303434|protein_coding|3/9|c.112+27G>A||||||,A|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000463233|retained_intron|3/8|n.230+27G>A||||||,A|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395827|protein_coding|3/9|c.112+27G>A|||||| 22 50632116 . C T . . ANN=T|upstream_gene_variant|MODIFIER|RP3-402G11.25|ENSG00000273188|transcript|ENST00000607943|antisense||n.-1G>A|||||1285|,T|upstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000472677|retained_intron||n.-1C>T|||||3206|,T|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395829|protein_coding|2/9|c.112+33C>T||||||,T|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000380909|protein_coding|3/9|c.112+33C>T||||||,T|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000303434|protein_coding|3/9|c.112+33C>T||||||,T|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000463233|retained_intron|3/8|n.230+33C>T||||||,T|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395827|protein_coding|3/9|c.112+33C>T|||||| 22 50632117 . G A . . ANN=A|upstream_gene_variant|MODIFIER|RP3-402G11.25|ENSG00000273188|transcript|ENST00000607943|antisense||n.-1C>T|||||1286|,A|upstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000472677|retained_intron||n.-1G>A|||||3205|,A|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395829|protein_coding|2/9|c.112+34G>A||||||,A|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000380909|protein_coding|3/9|c.112+34G>A||||||,A|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000303434|protein_coding|3/9|c.112+34G>A||||||,A|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000463233|retained_intron|3/8|n.230+34G>A||||||,A|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395827|protein_coding|3/9|c.112+34G>A|||||| 22 50632771 . G A . . ANN=A|missense_variant&splice_region_variant|MODERATE|TRABD|ENSG00000170638|transcript|ENST00000395829|protein_coding|3/10|c.115G>A|p.Asp39Asn|162/1628|115/1140|39/379||,A|missense_variant&splice_region_variant|MODERATE|TRABD|ENSG00000170638|transcript|ENST00000380909|protein_coding|4/10|c.115G>A|p.Asp39Asn|211/2272|115/1131|39/376||,A|missense_variant&splice_region_variant|MODERATE|TRABD|ENSG00000170638|transcript|ENST00000303434|protein_coding|4/10|c.115G>A|p.Asp39Asn|234/2329|115/1131|39/376||,A|missense_variant&splice_region_variant|MODERATE|TRABD|ENSG00000170638|transcript|ENST00000395827|protein_coding|4/10|c.115G>A|p.Asp39Asn|200/2172|115/1131|39/376||,A|splice_region_variant&non_coding_exon_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000463233|retained_intron|4/9|n.233G>A||||||,A|upstream_gene_variant|MODIFIER|RP3-402G11.25|ENSG00000273188|transcript|ENST00000607943|antisense||n.-1C>T|||||1940|,A|upstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000472677|retained_intron||n.-1G>A|||||2551|,A|downstream_gene_variant|MODIFIER|RP3-402G11.26|ENSG00000273253|transcript|ENST00000608025|antisense||n.*711C>T|||||4748| 22 50632820 . G A . . ANN=A|missense_variant|MODERATE|TRABD|ENSG00000170638|transcript|ENST00000395829|protein_coding|3/10|c.164G>A|p.Arg55His|211/1628|164/1140|55/379||,A|missense_variant|MODERATE|TRABD|ENSG00000170638|transcript|ENST00000380909|protein_coding|4/10|c.164G>A|p.Arg55His|260/2272|164/1131|55/376||,A|missense_variant|MODERATE|TRABD|ENSG00000170638|transcript|ENST00000303434|protein_coding|4/10|c.164G>A|p.Arg55His|283/2329|164/1131|55/376||,A|missense_variant|MODERATE|TRABD|ENSG00000170638|transcript|ENST00000395827|protein_coding|4/10|c.164G>A|p.Arg55His|249/2172|164/1131|55/376||,A|upstream_gene_variant|MODIFIER|RP3-402G11.25|ENSG00000273188|transcript|ENST00000607943|antisense||n.-1C>T|||||1989|,A|upstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000472677|retained_intron||n.-1G>A|||||2502|,A|downstream_gene_variant|MODIFIER|RP3-402G11.26|ENSG00000273253|transcript|ENST00000608025|antisense||n.*711C>T|||||4699|,A|non_coding_exon_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000463233|retained_intron|4/9|n.282G>A|||||| 22 50632839 . G A . . ANN=A|synonymous_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000395829|protein_coding|3/10|c.183G>A|p.Pro61Pro|230/1628|183/1140|61/379||,A|synonymous_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000380909|protein_coding|4/10|c.183G>A|p.Pro61Pro|279/2272|183/1131|61/376||,A|synonymous_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000303434|protein_coding|4/10|c.183G>A|p.Pro61Pro|302/2329|183/1131|61/376||,A|synonymous_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000395827|protein_coding|4/10|c.183G>A|p.Pro61Pro|268/2172|183/1131|61/376||,A|upstream_gene_variant|MODIFIER|RP3-402G11.25|ENSG00000273188|transcript|ENST00000607943|antisense||n.-1C>T|||||2008|,A|upstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000472677|retained_intron||n.-1G>A|||||2483|,A|downstream_gene_variant|MODIFIER|RP3-402G11.26|ENSG00000273253|transcript|ENST00000608025|antisense||n.*711C>T|||||4680|,A|non_coding_exon_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000463233|retained_intron|4/9|n.301G>A|||||| 22 50632841 . G A . . ANN=A|missense_variant|MODERATE|TRABD|ENSG00000170638|transcript|ENST00000395829|protein_coding|3/10|c.185G>A|p.Arg62His|232/1628|185/1140|62/379||,A|missense_variant|MODERATE|TRABD|ENSG00000170638|transcript|ENST00000380909|protein_coding|4/10|c.185G>A|p.Arg62His|281/2272|185/1131|62/376||,A|missense_variant|MODERATE|TRABD|ENSG00000170638|transcript|ENST00000303434|protein_coding|4/10|c.185G>A|p.Arg62His|304/2329|185/1131|62/376||,A|missense_variant|MODERATE|TRABD|ENSG00000170638|transcript|ENST00000395827|protein_coding|4/10|c.185G>A|p.Arg62His|270/2172|185/1131|62/376||,A|upstream_gene_variant|MODIFIER|RP3-402G11.25|ENSG00000273188|transcript|ENST00000607943|antisense||n.-1C>T|||||2010|,A|upstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000472677|retained_intron||n.-1G>A|||||2481|,A|downstream_gene_variant|MODIFIER|RP3-402G11.26|ENSG00000273253|transcript|ENST00000608025|antisense||n.*711C>T|||||4678|,A|non_coding_exon_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000463233|retained_intron|4/9|n.303G>A|||||| 22 50632869 . C T . . ANN=T|synonymous_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000395829|protein_coding|3/10|c.213C>T|p.Asp71Asp|260/1628|213/1140|71/379||,T|synonymous_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000380909|protein_coding|4/10|c.213C>T|p.Asp71Asp|309/2272|213/1131|71/376||,T|synonymous_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000303434|protein_coding|4/10|c.213C>T|p.Asp71Asp|332/2329|213/1131|71/376||,T|synonymous_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000395827|protein_coding|4/10|c.213C>T|p.Asp71Asp|298/2172|213/1131|71/376||,T|upstream_gene_variant|MODIFIER|RP3-402G11.25|ENSG00000273188|transcript|ENST00000607943|antisense||n.-1G>A|||||2038|,T|upstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000472677|retained_intron||n.-1C>T|||||2453|,T|downstream_gene_variant|MODIFIER|RP3-402G11.26|ENSG00000273253|transcript|ENST00000608025|antisense||n.*711G>A|||||4650|,T|non_coding_exon_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000463233|retained_intron|4/9|n.331C>T|||||| 22 50632963 . G T . . ANN=T|upstream_gene_variant|MODIFIER|RP3-402G11.25|ENSG00000273188|transcript|ENST00000607943|antisense||n.-1C>A|||||2132|,T|upstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000472677|retained_intron||n.-1G>T|||||2359|,T|downstream_gene_variant|MODIFIER|RP3-402G11.26|ENSG00000273253|transcript|ENST00000608025|antisense||n.*711C>A|||||4556|,T|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395829|protein_coding|3/9|c.279+28G>T||||||,T|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000380909|protein_coding|4/9|c.279+28G>T||||||,T|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000303434|protein_coding|4/9|c.279+28G>T||||||,T|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000463233|retained_intron|4/8|n.397+28G>T||||||,T|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395827|protein_coding|4/9|c.279+28G>T|||||| 22 50632964 . A T . . ANN=T|upstream_gene_variant|MODIFIER|RP3-402G11.25|ENSG00000273188|transcript|ENST00000607943|antisense||n.-1T>A|||||2133|,T|upstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000472677|retained_intron||n.-1A>T|||||2358|,T|downstream_gene_variant|MODIFIER|RP3-402G11.26|ENSG00000273253|transcript|ENST00000608025|antisense||n.*711T>A|||||4555|,T|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395829|protein_coding|3/9|c.279+29A>T||||||,T|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000380909|protein_coding|4/9|c.279+29A>T||||||,T|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000303434|protein_coding|4/9|c.279+29A>T||||||,T|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000463233|retained_intron|4/8|n.397+29A>T||||||,T|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395827|protein_coding|4/9|c.279+29A>T|||||| 22 50633291 . C T . . ANN=T|upstream_gene_variant|MODIFIER|RP3-402G11.25|ENSG00000273188|transcript|ENST00000607943|antisense||n.-1G>A|||||2460|,T|upstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000472677|retained_intron||n.-1C>T|||||2031|,T|downstream_gene_variant|MODIFIER|RP3-402G11.26|ENSG00000273253|transcript|ENST00000608025|antisense||n.*711G>A|||||4228|,T|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395829|protein_coding|3/9|c.280-38C>T||||||,T|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000380909|protein_coding|4/9|c.280-38C>T||||||,T|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000303434|protein_coding|4/9|c.280-38C>T||||||,T|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000463233|retained_intron|4/8|n.398-38C>T||||||,T|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395827|protein_coding|4/9|c.280-38C>T|||||| 22 50633358 . G A . . ANN=A|synonymous_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000395829|protein_coding|4/10|c.309G>A|p.Val103Val|356/1628|309/1140|103/379||,A|synonymous_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000380909|protein_coding|5/10|c.309G>A|p.Val103Val|405/2272|309/1131|103/376||,A|synonymous_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000303434|protein_coding|5/10|c.309G>A|p.Val103Val|428/2329|309/1131|103/376||,A|synonymous_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000395827|protein_coding|5/10|c.309G>A|p.Val103Val|394/2172|309/1131|103/376||,A|upstream_gene_variant|MODIFIER|RP3-402G11.25|ENSG00000273188|transcript|ENST00000607943|antisense||n.-1C>T|||||2527|,A|upstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000472677|retained_intron||n.-1G>A|||||1964|,A|downstream_gene_variant|MODIFIER|RP3-402G11.26|ENSG00000273253|transcript|ENST00000608025|antisense||n.*711C>T|||||4161|,A|non_coding_exon_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000463233|retained_intron|5/9|n.427G>A|||||| 22 50633382 . T C . . ANN=C|synonymous_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000395829|protein_coding|4/10|c.333T>C|p.Arg111Arg|380/1628|333/1140|111/379||,C|synonymous_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000380909|protein_coding|5/10|c.333T>C|p.Arg111Arg|429/2272|333/1131|111/376||,C|synonymous_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000303434|protein_coding|5/10|c.333T>C|p.Arg111Arg|452/2329|333/1131|111/376||,C|synonymous_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000395827|protein_coding|5/10|c.333T>C|p.Arg111Arg|418/2172|333/1131|111/376||,C|upstream_gene_variant|MODIFIER|RP3-402G11.25|ENSG00000273188|transcript|ENST00000607943|antisense||n.-1A>G|||||2551|,C|upstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000472677|retained_intron||n.-1T>C|||||1940|,C|downstream_gene_variant|MODIFIER|RP3-402G11.26|ENSG00000273253|transcript|ENST00000608025|antisense||n.*711A>G|||||4137|,C|non_coding_exon_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000463233|retained_intron|5/9|n.451T>C|||||| 22 50633394 . G A . . ANN=A|synonymous_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000395829|protein_coding|4/10|c.345G>A|p.Leu115Leu|392/1628|345/1140|115/379||,A|synonymous_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000380909|protein_coding|5/10|c.345G>A|p.Leu115Leu|441/2272|345/1131|115/376||,A|synonymous_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000303434|protein_coding|5/10|c.345G>A|p.Leu115Leu|464/2329|345/1131|115/376||,A|synonymous_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000395827|protein_coding|5/10|c.345G>A|p.Leu115Leu|430/2172|345/1131|115/376||,A|upstream_gene_variant|MODIFIER|RP3-402G11.25|ENSG00000273188|transcript|ENST00000607943|antisense||n.-1C>T|||||2563|,A|upstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000472677|retained_intron||n.-1G>A|||||1928|,A|downstream_gene_variant|MODIFIER|RP3-402G11.26|ENSG00000273253|transcript|ENST00000608025|antisense||n.*711C>T|||||4125|,A|non_coding_exon_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000463233|retained_intron|5/9|n.463G>A|||||| 22 50633436 . C T . . ANN=T|synonymous_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000395829|protein_coding|4/10|c.387C>T|p.Leu129Leu|434/1628|387/1140|129/379||,T|synonymous_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000380909|protein_coding|5/10|c.387C>T|p.Leu129Leu|483/2272|387/1131|129/376||,T|synonymous_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000303434|protein_coding|5/10|c.387C>T|p.Leu129Leu|506/2329|387/1131|129/376||,T|synonymous_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000395827|protein_coding|5/10|c.387C>T|p.Leu129Leu|472/2172|387/1131|129/376||,T|upstream_gene_variant|MODIFIER|RP3-402G11.25|ENSG00000273188|transcript|ENST00000607943|antisense||n.-1G>A|||||2605|,T|upstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000472677|retained_intron||n.-1C>T|||||1886|,T|downstream_gene_variant|MODIFIER|RP3-402G11.26|ENSG00000273253|transcript|ENST00000608025|antisense||n.*711G>A|||||4083|,T|non_coding_exon_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000463233|retained_intron|5/9|n.505C>T|||||| 22 50633490 . G A . . ANN=A|upstream_gene_variant|MODIFIER|RP3-402G11.25|ENSG00000273188|transcript|ENST00000607943|antisense||n.-1C>T|||||2659|,A|upstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000472677|retained_intron||n.-1G>A|||||1832|,A|downstream_gene_variant|MODIFIER|RP3-402G11.26|ENSG00000273253|transcript|ENST00000608025|antisense||n.*711C>T|||||4029|,A|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395829|protein_coding|4/9|c.420+21G>A||||||,A|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000380909|protein_coding|5/9|c.420+21G>A||||||,A|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000303434|protein_coding|5/9|c.420+21G>A||||||,A|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000463233|retained_intron|5/8|n.538+21G>A||||||,A|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395827|protein_coding|5/9|c.420+21G>A|||||| 22 50635627 . C T . . ANN=T|upstream_gene_variant|MODIFIER|RP3-402G11.25|ENSG00000273188|transcript|ENST00000607943|antisense||n.-1G>A|||||4796|,T|upstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.-59C>T|||||3781|,T|downstream_gene_variant|MODIFIER|RP3-402G11.26|ENSG00000273253|transcript|ENST00000608025|antisense||n.*711G>A|||||1892|,T|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395829|protein_coding|4/9|c.421-43C>T||||||,T|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000380909|protein_coding|5/9|c.421-43C>T||||||,T|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000303434|protein_coding|5/9|c.421-43C>T||||||,T|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000463233|retained_intron|5/8|n.539-43C>T||||||,T|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395827|protein_coding|5/9|c.421-43C>T||||||,T|non_coding_exon_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000472677|retained_intron|1/2|n.306C>T|||||| 22 50635628 . G C . . ANN=C|upstream_gene_variant|MODIFIER|RP3-402G11.25|ENSG00000273188|transcript|ENST00000607943|antisense||n.-1C>G|||||4797|,C|upstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.-59G>C|||||3780|,C|downstream_gene_variant|MODIFIER|RP3-402G11.26|ENSG00000273253|transcript|ENST00000608025|antisense||n.*711C>G|||||1891|,C|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395829|protein_coding|4/9|c.421-42G>C||||||,C|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000380909|protein_coding|5/9|c.421-42G>C||||||,C|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000303434|protein_coding|5/9|c.421-42G>C||||||,C|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000463233|retained_intron|5/8|n.539-42G>C||||||,C|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395827|protein_coding|5/9|c.421-42G>C||||||,C|non_coding_exon_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000472677|retained_intron|1/2|n.307G>C|||||| 22 50635629 . C G . . ANN=G|upstream_gene_variant|MODIFIER|RP3-402G11.25|ENSG00000273188|transcript|ENST00000607943|antisense||n.-1G>C|||||4798|,G|upstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.-59C>G|||||3779|,G|downstream_gene_variant|MODIFIER|RP3-402G11.26|ENSG00000273253|transcript|ENST00000608025|antisense||n.*711G>C|||||1890|,G|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395829|protein_coding|4/9|c.421-41C>G||||||,G|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000380909|protein_coding|5/9|c.421-41C>G||||||,G|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000303434|protein_coding|5/9|c.421-41C>G||||||,G|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000463233|retained_intron|5/8|n.539-41C>G||||||,G|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395827|protein_coding|5/9|c.421-41C>G||||||,G|non_coding_exon_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000472677|retained_intron|1/2|n.308C>G|||||| 22 50635634 . G A . . ANN=A|upstream_gene_variant|MODIFIER|RP3-402G11.25|ENSG00000273188|transcript|ENST00000607943|antisense||n.-1C>T|||||4803|,A|upstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.-59G>A|||||3774|,A|downstream_gene_variant|MODIFIER|RP3-402G11.26|ENSG00000273253|transcript|ENST00000608025|antisense||n.*711C>T|||||1885|,A|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395829|protein_coding|4/9|c.421-36G>A||||||,A|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000380909|protein_coding|5/9|c.421-36G>A||||||,A|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000303434|protein_coding|5/9|c.421-36G>A||||||,A|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000463233|retained_intron|5/8|n.539-36G>A||||||,A|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395827|protein_coding|5/9|c.421-36G>A||||||,A|non_coding_exon_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000472677|retained_intron|1/2|n.313G>A|||||| 22 50635714 . G C . . ANN=C|synonymous_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000395829|protein_coding|5/10|c.465G>C|p.Val155Val|512/1628|465/1140|155/379||,C|synonymous_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000380909|protein_coding|6/10|c.465G>C|p.Val155Val|561/2272|465/1131|155/376||,C|synonymous_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000303434|protein_coding|6/10|c.465G>C|p.Val155Val|584/2329|465/1131|155/376||,C|synonymous_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000395827|protein_coding|6/10|c.465G>C|p.Val155Val|550/2172|465/1131|155/376||,C|upstream_gene_variant|MODIFIER|RP3-402G11.25|ENSG00000273188|transcript|ENST00000607943|antisense||n.-1C>G|||||4883|,C|upstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.-59G>C|||||3694|,C|downstream_gene_variant|MODIFIER|RP3-402G11.26|ENSG00000273253|transcript|ENST00000608025|antisense||n.*711C>G|||||1805|,C|non_coding_exon_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000463233|retained_intron|6/9|n.583G>C||||||,C|non_coding_exon_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000472677|retained_intron|1/2|n.393G>C|||||| 22 50635729 . C T . . ANN=T|synonymous_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000395829|protein_coding|5/10|c.480C>T|p.Thr160Thr|527/1628|480/1140|160/379||,T|synonymous_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000380909|protein_coding|6/10|c.480C>T|p.Thr160Thr|576/2272|480/1131|160/376||,T|synonymous_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000303434|protein_coding|6/10|c.480C>T|p.Thr160Thr|599/2329|480/1131|160/376||,T|synonymous_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000395827|protein_coding|6/10|c.480C>T|p.Thr160Thr|565/2172|480/1131|160/376||,T|upstream_gene_variant|MODIFIER|RP3-402G11.25|ENSG00000273188|transcript|ENST00000607943|antisense||n.-1G>A|||||4898|,T|upstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.-59C>T|||||3679|,T|downstream_gene_variant|MODIFIER|RP3-402G11.26|ENSG00000273253|transcript|ENST00000608025|antisense||n.*711G>A|||||1790|,T|non_coding_exon_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000463233|retained_intron|6/9|n.598C>T||||||,T|non_coding_exon_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000472677|retained_intron|1/2|n.408C>T|||||| 22 50635795 . A G . . ANN=G|upstream_gene_variant|MODIFIER|RP3-402G11.25|ENSG00000273188|transcript|ENST00000607943|antisense||n.-1T>C|||||4964|,G|upstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.-59A>G|||||3613|,G|downstream_gene_variant|MODIFIER|RP3-402G11.26|ENSG00000273253|transcript|ENST00000608025|antisense||n.*711T>C|||||1724|,G|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395829|protein_coding|5/9|c.531+15A>G||||||,G|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000380909|protein_coding|6/9|c.531+15A>G||||||,G|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000303434|protein_coding|6/9|c.531+15A>G||||||,G|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000463233|retained_intron|6/8|n.649+15A>G||||||,G|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395827|protein_coding|6/9|c.531+15A>G||||||,G|non_coding_exon_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000472677|retained_intron|1/2|n.474A>G|||||| 22 50635831 . G A . . ANN=A|upstream_gene_variant|MODIFIER|RP3-402G11.25|ENSG00000273188|transcript|ENST00000607943|antisense||n.-1C>T|||||5000|,A|upstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.-59G>A|||||3577|,A|downstream_gene_variant|MODIFIER|RP3-402G11.26|ENSG00000273253|transcript|ENST00000608025|antisense||n.*711C>T|||||1688|,A|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395829|protein_coding|5/9|c.532-47G>A||||||,A|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000380909|protein_coding|6/9|c.532-47G>A||||||,A|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000303434|protein_coding|6/9|c.532-47G>A||||||,A|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000463233|retained_intron|6/8|n.650-47G>A||||||,A|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395827|protein_coding|6/9|c.532-47G>A||||||,A|non_coding_exon_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000472677|retained_intron|1/2|n.510G>A|||||| 22 50635848 . C G . . ANN=G|upstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.-59C>G|||||3560|,G|downstream_gene_variant|MODIFIER|RP3-402G11.26|ENSG00000273253|transcript|ENST00000608025|antisense||n.*711G>C|||||1671|,G|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395829|protein_coding|5/9|c.532-30C>G||||||,G|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000380909|protein_coding|6/9|c.532-30C>G||||||,G|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000303434|protein_coding|6/9|c.532-30C>G||||||,G|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000463233|retained_intron|6/8|n.650-30C>G||||||,G|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395827|protein_coding|6/9|c.532-30C>G||||||,G|non_coding_exon_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000472677|retained_intron|1/2|n.527C>G|||||| 22 50635892 . T A . . ANN=A|synonymous_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000395829|protein_coding|6/10|c.546T>A|p.Pro182Pro|593/1628|546/1140|182/379||,A|synonymous_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000380909|protein_coding|7/10|c.546T>A|p.Pro182Pro|642/2272|546/1131|182/376||,A|synonymous_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000303434|protein_coding|7/10|c.546T>A|p.Pro182Pro|665/2329|546/1131|182/376||,A|synonymous_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000395827|protein_coding|7/10|c.546T>A|p.Pro182Pro|631/2172|546/1131|182/376||,A|upstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.-59T>A|||||3516|,A|downstream_gene_variant|MODIFIER|RP3-402G11.26|ENSG00000273253|transcript|ENST00000608025|antisense||n.*711A>T|||||1627|,A|non_coding_exon_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000463233|retained_intron|7/9|n.664T>A||||||,A|non_coding_exon_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000472677|retained_intron|1/2|n.571T>A|||||| 22 50635949 . C T . . ANN=T|synonymous_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000395829|protein_coding|6/10|c.603C>T|p.Ile201Ile|650/1628|603/1140|201/379||,T|synonymous_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000380909|protein_coding|7/10|c.603C>T|p.Ile201Ile|699/2272|603/1131|201/376||,T|synonymous_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000303434|protein_coding|7/10|c.603C>T|p.Ile201Ile|722/2329|603/1131|201/376||,T|synonymous_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000395827|protein_coding|7/10|c.603C>T|p.Ile201Ile|688/2172|603/1131|201/376||,T|upstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.-59C>T|||||3459|,T|downstream_gene_variant|MODIFIER|RP3-402G11.26|ENSG00000273253|transcript|ENST00000608025|antisense||n.*711G>A|||||1570|,T|non_coding_exon_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000463233|retained_intron|7/9|n.721C>T||||||,T|non_coding_exon_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000472677|retained_intron|1/2|n.628C>T|||||| 22 50636058 . T C . . ANN=C|upstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.-59T>C|||||3350|,C|downstream_gene_variant|MODIFIER|RP3-402G11.26|ENSG00000273253|transcript|ENST00000608025|antisense||n.*711A>G|||||1461|,C|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395829|protein_coding|6/9|c.671+41T>C||||||,C|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000380909|protein_coding|7/9|c.671+41T>C||||||,C|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000303434|protein_coding|7/9|c.671+41T>C||||||,C|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000463233|retained_intron|7/8|n.789+41T>C||||||,C|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395827|protein_coding|7/9|c.671+41T>C||||||,C|non_coding_exon_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000472677|retained_intron|1/2|n.737T>C|||||| 22 50636211 . G A . . ANN=A|upstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.-59G>A|||||3197|,A|downstream_gene_variant|MODIFIER|RP3-402G11.26|ENSG00000273253|transcript|ENST00000608025|antisense||n.*711C>T|||||1308|,A|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395829|protein_coding|6/9|c.672-41G>A||||||,A|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000380909|protein_coding|7/9|c.672-41G>A||||||,A|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000303434|protein_coding|7/9|c.672-41G>A||||||,A|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000463233|retained_intron|7/8|n.790-41G>A||||||,A|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395827|protein_coding|7/9|c.672-41G>A||||||,A|non_coding_exon_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000472677|retained_intron|1/2|n.890G>A|||||| 22 50636238 . A G . . ANN=G|upstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.-59A>G|||||3170|,G|downstream_gene_variant|MODIFIER|RP3-402G11.26|ENSG00000273253|transcript|ENST00000608025|antisense||n.*711T>C|||||1281|,G|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395829|protein_coding|6/9|c.672-14A>G||||||,G|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000380909|protein_coding|7/9|c.672-14A>G||||||,G|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000303434|protein_coding|7/9|c.672-14A>G||||||,G|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000463233|retained_intron|7/8|n.790-14A>G||||||,G|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395827|protein_coding|7/9|c.672-14A>G||||||,G|non_coding_exon_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000472677|retained_intron|1/2|n.917A>G|||||| 22 50636357 . C T . . ANN=T|synonymous_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000395829|protein_coding|7/10|c.777C>T|p.Arg259Arg|824/1628|777/1140|259/379||,T|synonymous_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000380909|protein_coding|8/10|c.777C>T|p.Arg259Arg|873/2272|777/1131|259/376||,T|synonymous_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000303434|protein_coding|8/10|c.777C>T|p.Arg259Arg|896/2329|777/1131|259/376||,T|synonymous_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000395827|protein_coding|8/10|c.777C>T|p.Arg259Arg|862/2172|777/1131|259/376||,T|upstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.-59C>T|||||3051|,T|downstream_gene_variant|MODIFIER|RP3-402G11.26|ENSG00000273253|transcript|ENST00000608025|antisense||n.*711G>A|||||1162|,T|non_coding_exon_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000463233|retained_intron|8/9|n.895C>T||||||,T|non_coding_exon_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000472677|retained_intron|1/2|n.1036C>T|||||| 22 50636391 . G A . . ANN=A|missense_variant|MODERATE|TRABD|ENSG00000170638|transcript|ENST00000395829|protein_coding|7/10|c.811G>A|p.Ala271Thr|858/1628|811/1140|271/379||,A|missense_variant|MODERATE|TRABD|ENSG00000170638|transcript|ENST00000380909|protein_coding|8/10|c.811G>A|p.Ala271Thr|907/2272|811/1131|271/376||,A|missense_variant|MODERATE|TRABD|ENSG00000170638|transcript|ENST00000303434|protein_coding|8/10|c.811G>A|p.Ala271Thr|930/2329|811/1131|271/376||,A|missense_variant|MODERATE|TRABD|ENSG00000170638|transcript|ENST00000395827|protein_coding|8/10|c.811G>A|p.Ala271Thr|896/2172|811/1131|271/376||,A|upstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.-59G>A|||||3017|,A|downstream_gene_variant|MODIFIER|RP3-402G11.26|ENSG00000273253|transcript|ENST00000608025|antisense||n.*711C>T|||||1128|,A|non_coding_exon_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000463233|retained_intron|8/9|n.929G>A||||||,A|non_coding_exon_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000472677|retained_intron|1/2|n.1070G>A|||||| 22 50636429 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000395829|protein_coding|7/9|c.844+5C>T||||||,T|splice_region_variant&intron_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000380909|protein_coding|8/9|c.844+5C>T||||||,T|splice_region_variant&intron_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000303434|protein_coding|8/9|c.844+5C>T||||||,T|splice_region_variant&intron_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000395827|protein_coding|8/9|c.844+5C>T||||||,T|upstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.-59C>T|||||2979|,T|downstream_gene_variant|MODIFIER|RP3-402G11.26|ENSG00000273253|transcript|ENST00000608025|antisense||n.*711G>A|||||1090|,T|non_coding_exon_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000463233|retained_intron|8/9|n.967C>T||||||,T|non_coding_exon_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000472677|retained_intron|1/2|n.1108C>T|||||| 22 50636514 . G A . . ANN=A|synonymous_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000395829|protein_coding|8/10|c.855G>A|p.Arg285Arg|902/1628|855/1140|285/379||,A|synonymous_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000380909|protein_coding|9/10|c.855G>A|p.Arg285Arg|951/2272|855/1131|285/376||,A|synonymous_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000303434|protein_coding|9/10|c.855G>A|p.Arg285Arg|974/2329|855/1131|285/376||,A|synonymous_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000395827|protein_coding|9/10|c.855G>A|p.Arg285Arg|940/2172|855/1131|285/376||,A|upstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.-59G>A|||||2894|,A|downstream_gene_variant|MODIFIER|RP3-402G11.26|ENSG00000273253|transcript|ENST00000608025|antisense||n.*711C>T|||||1005|,A|non_coding_exon_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000463233|retained_intron|8/9|n.1052G>A||||||,A|non_coding_exon_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000472677|retained_intron|1/2|n.1193G>A|||||| 22 50636731 . G A . . ANN=A|upstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.-59G>A|||||2677|,A|downstream_gene_variant|MODIFIER|RP3-402G11.26|ENSG00000273253|transcript|ENST00000608025|antisense||n.*711C>T|||||788|,A|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395829|protein_coding|8/9|c.957-43G>A||||||,A|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000380909|protein_coding|9/9|c.957-43G>A||||||,A|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000303434|protein_coding|9/9|c.957-43G>A||||||,A|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000463233|retained_intron|8/8|n.1154-43G>A||||||,A|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395827|protein_coding|9/9|c.957-43G>A||||||,A|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000472677|retained_intron|1/1|n.1295-43G>A|||||| 22 50636755 . C T . . ANN=T|upstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.-59C>T|||||2653|,T|downstream_gene_variant|MODIFIER|RP3-402G11.26|ENSG00000273253|transcript|ENST00000608025|antisense||n.*711G>A|||||764|,T|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395829|protein_coding|8/9|c.957-19C>T||||||,T|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000380909|protein_coding|9/9|c.957-19C>T||||||,T|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000303434|protein_coding|9/9|c.957-19C>T||||||,T|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000463233|retained_intron|8/8|n.1154-19C>T||||||,T|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395827|protein_coding|9/9|c.957-19C>T||||||,T|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000472677|retained_intron|1/1|n.1295-19C>T|||||| 22 50636760 . C T . . ANN=T|upstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.-59C>T|||||2648|,T|downstream_gene_variant|MODIFIER|RP3-402G11.26|ENSG00000273253|transcript|ENST00000608025|antisense||n.*711G>A|||||759|,T|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395829|protein_coding|8/9|c.957-14C>T||||||,T|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000380909|protein_coding|9/9|c.957-14C>T||||||,T|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000303434|protein_coding|9/9|c.957-14C>T||||||,T|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000463233|retained_intron|8/8|n.1154-14C>T||||||,T|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395827|protein_coding|9/9|c.957-14C>T||||||,T|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000472677|retained_intron|1/1|n.1295-14C>T|||||| 22 50636770 . A T . . ANN=T|splice_region_variant&intron_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000395829|protein_coding|8/9|c.957-4A>T||||||,T|splice_region_variant&intron_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000380909|protein_coding|9/9|c.957-4A>T||||||,T|splice_region_variant&intron_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000303434|protein_coding|9/9|c.957-4A>T||||||,T|splice_region_variant&intron_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000463233|retained_intron|8/8|n.1154-4A>T||||||,T|splice_region_variant&intron_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000395827|protein_coding|9/9|c.957-4A>T||||||,T|splice_region_variant&intron_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000472677|retained_intron|1/1|n.1295-4A>T||||||,T|upstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.-59A>T|||||2638|,T|downstream_gene_variant|MODIFIER|RP3-402G11.26|ENSG00000273253|transcript|ENST00000608025|antisense||n.*711T>A|||||749| 22 50636774 . C T . . ANN=T|splice_region_variant&synonymous_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000395829|protein_coding|9/10|c.957C>T|p.Thr319Thr|1004/1628|957/1140|319/379||,T|splice_region_variant&synonymous_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000380909|protein_coding|10/10|c.957C>T|p.Thr319Thr|1053/2272|957/1131|319/376||,T|splice_region_variant&synonymous_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000303434|protein_coding|10/10|c.957C>T|p.Thr319Thr|1076/2329|957/1131|319/376||,T|splice_region_variant&non_coding_exon_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000463233|retained_intron|9/9|n.1154C>T||||||,T|splice_region_variant&synonymous_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000395827|protein_coding|10/10|c.957C>T|p.Thr319Thr|1042/2172|957/1131|319/376||,T|splice_region_variant&non_coding_exon_variant|LOW|TRABD|ENSG00000170638|transcript|ENST00000472677|retained_intron|2/2|n.1295C>T||||||,T|upstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.-59C>T|||||2634|,T|downstream_gene_variant|MODIFIER|RP3-402G11.26|ENSG00000273253|transcript|ENST00000608025|antisense||n.*711G>A|||||745| 22 50636962 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000380909|protein_coding|10/10|c.*14G>A|||||14|,A|3_prime_UTR_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000303434|protein_coding|10/10|c.*14G>A|||||14|,A|3_prime_UTR_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395827|protein_coding|10/10|c.*14G>A|||||14|,A|upstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.-59G>A|||||2446|,A|downstream_gene_variant|MODIFIER|RP3-402G11.26|ENSG00000273253|transcript|ENST00000608025|antisense||n.*711C>T|||||557|,A|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395829|protein_coding|9/9|c.1127+18G>A||||||,A|non_coding_exon_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000463233|retained_intron|9/9|n.1342G>A||||||,A|non_coding_exon_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000472677|retained_intron|2/2|n.1483G>A|||||| 22 50636965 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000380909|protein_coding|10/10|c.*17C>T|||||17|,T|3_prime_UTR_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000303434|protein_coding|10/10|c.*17C>T|||||17|,T|3_prime_UTR_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395827|protein_coding|10/10|c.*17C>T|||||17|,T|upstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.-59C>T|||||2443|,T|downstream_gene_variant|MODIFIER|RP3-402G11.26|ENSG00000273253|transcript|ENST00000608025|antisense||n.*711G>A|||||554|,T|intron_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395829|protein_coding|9/9|c.1127+21C>T||||||,T|non_coding_exon_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000463233|retained_intron|9/9|n.1345C>T||||||,T|non_coding_exon_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000472677|retained_intron|2/2|n.1486C>T|||||| 22 50639473 . T C . . ANN=C|missense_variant|MODERATE|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|1/9|c.8T>C|p.Val3Ala|66/2315|8/2010|3/669||,C|upstream_gene_variant|MODIFIER|RP3-402G11.26|ENSG00000273253|transcript|ENST00000608025|antisense||n.-1A>G|||||497|,C|downstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395829|protein_coding||c.*1187T>C|||||1475|,C|downstream_gene_variant|MODIFIER|RP3-402G11.27|ENSG00000272836|transcript|ENST00000610050|antisense||n.*478A>G|||||4541|,C|downstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000380909|protein_coding||c.*1227T>C|||||1480|,C|downstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000303434|protein_coding||c.*1250T>C|||||1446|,C|downstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000463233|retained_intron||n.*2404T>C|||||1449|,C|downstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395827|protein_coding||c.*1216T>C|||||1569|,C|downstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000472677|retained_intron||n.*1661T>C|||||2333| 22 50639528 . T C . . ANN=C|synonymous_variant|LOW|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|1/9|c.63T>C|p.Gly21Gly|121/2315|63/2010|21/669||,C|upstream_gene_variant|MODIFIER|RP3-402G11.26|ENSG00000273253|transcript|ENST00000608025|antisense||n.-1A>G|||||552|,C|downstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395829|protein_coding||c.*1187T>C|||||1530|,C|downstream_gene_variant|MODIFIER|RP3-402G11.27|ENSG00000272836|transcript|ENST00000610050|antisense||n.*478A>G|||||4486|,C|downstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000380909|protein_coding||c.*1227T>C|||||1535|,C|downstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000303434|protein_coding||c.*1250T>C|||||1501|,C|downstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000463233|retained_intron||n.*2404T>C|||||1504|,C|downstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395827|protein_coding||c.*1216T>C|||||1624|,C|downstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000472677|retained_intron||n.*1661T>C|||||2388| 22 50639636 . C G . . ANN=G|synonymous_variant|LOW|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|1/9|c.171C>G|p.Ala57Ala|229/2315|171/2010|57/669||,G|upstream_gene_variant|MODIFIER|RP3-402G11.26|ENSG00000273253|transcript|ENST00000608025|antisense||n.-1G>C|||||660|,G|downstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395829|protein_coding||c.*1187C>G|||||1638|,G|downstream_gene_variant|MODIFIER|RP3-402G11.27|ENSG00000272836|transcript|ENST00000610050|antisense||n.*478G>C|||||4378|,G|downstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000380909|protein_coding||c.*1227C>G|||||1643|,G|downstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000303434|protein_coding||c.*1250C>G|||||1609|,G|downstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000463233|retained_intron||n.*2404C>G|||||1612|,G|downstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395827|protein_coding||c.*1216C>G|||||1732|,G|downstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000472677|retained_intron||n.*1661C>G|||||2496| 22 50639778 . T C . . ANN=C|synonymous_variant|LOW|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|1/9|c.313T>C|p.Leu105Leu|371/2315|313/2010|105/669||,C|upstream_gene_variant|MODIFIER|RP3-402G11.26|ENSG00000273253|transcript|ENST00000608025|antisense||n.-1A>G|||||802|,C|downstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395829|protein_coding||c.*1187T>C|||||1780|,C|downstream_gene_variant|MODIFIER|RP3-402G11.27|ENSG00000272836|transcript|ENST00000610050|antisense||n.*478A>G|||||4236|,C|downstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000380909|protein_coding||c.*1227T>C|||||1785|,C|downstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000303434|protein_coding||c.*1250T>C|||||1751|,C|downstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000463233|retained_intron||n.*2404T>C|||||1754|,C|downstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395827|protein_coding||c.*1216T>C|||||1874|,C|downstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000472677|retained_intron||n.*1661T>C|||||2638| 22 50639965 . C A . . ANN=A|missense_variant|MODERATE|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|1/9|c.500C>A|p.Thr167Asn|558/2315|500/2010|167/669||,A|upstream_gene_variant|MODIFIER|RP3-402G11.26|ENSG00000273253|transcript|ENST00000608025|antisense||n.-1G>T|||||989|,A|upstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.-1C>A|||||4906|,A|downstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395829|protein_coding||c.*1187C>A|||||1967|,A|downstream_gene_variant|MODIFIER|RP3-402G11.27|ENSG00000272836|transcript|ENST00000610050|antisense||n.*478G>T|||||4049|,A|downstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000380909|protein_coding||c.*1227C>A|||||1972|,A|downstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000303434|protein_coding||c.*1250C>A|||||1938|,A|downstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000463233|retained_intron||n.*2404C>A|||||1941|,A|downstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395827|protein_coding||c.*1216C>A|||||2061|,A|downstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000472677|retained_intron||n.*1661C>A|||||2825| 22 50644711 . C G . . ANN=G|upstream_gene_variant|MODIFIER|RP3-402G11.27|ENSG00000272836|transcript|ENST00000610050|antisense||n.-1G>C|||||220|,G|upstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.-1C>G|||||160|,G|downstream_gene_variant|MODIFIER|RP3-402G11.28|ENSG00000273137|transcript|ENST00000608016|antisense||n.*640G>C|||||2179|,G|intron_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|1/8|c.555-35C>G|||||| 22 50644807 . A G . . ANN=G|missense_variant|MODERATE|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|2/9|c.616A>G|p.Met206Val|674/2315|616/2010|206/669||,G|upstream_gene_variant|MODIFIER|RP3-402G11.27|ENSG00000272836|transcript|ENST00000610050|antisense||n.-1T>C|||||316|,G|upstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.-1A>G|||||64|,G|downstream_gene_variant|MODIFIER|RP3-402G11.28|ENSG00000273137|transcript|ENST00000608016|antisense||n.*640T>C|||||2083| 22 50644812 . C T . . ANN=T|synonymous_variant|LOW|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|2/9|c.621C>T|p.Phe207Phe|679/2315|621/2010|207/669||,T|upstream_gene_variant|MODIFIER|RP3-402G11.27|ENSG00000272836|transcript|ENST00000610050|antisense||n.-1G>A|||||321|,T|upstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.-1C>T|||||59|,T|downstream_gene_variant|MODIFIER|RP3-402G11.28|ENSG00000273137|transcript|ENST00000608016|antisense||n.*640G>A|||||2078| 22 50644858 . G A . . ANN=A|missense_variant|MODERATE|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|2/9|c.667G>A|p.Glu223Lys|725/2315|667/2010|223/669||,A|upstream_gene_variant|MODIFIER|RP3-402G11.27|ENSG00000272836|transcript|ENST00000610050|antisense||n.-1C>T|||||367|,A|upstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.-1G>A|||||13|,A|downstream_gene_variant|MODIFIER|RP3-402G11.28|ENSG00000273137|transcript|ENST00000608016|antisense||n.*640C>T|||||2032| 22 50644957 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|2/8|c.758+8C>T||||||,T|splice_region_variant&intron_variant|LOW|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|1/7|n.79+8C>T||||||,T|upstream_gene_variant|MODIFIER|RP3-402G11.27|ENSG00000272836|transcript|ENST00000610050|antisense||n.-1G>A|||||466|,T|downstream_gene_variant|MODIFIER|RP3-402G11.28|ENSG00000273137|transcript|ENST00000608016|antisense||n.*640G>A|||||1933| 22 50644960 . G C . . ANN=C|upstream_gene_variant|MODIFIER|RP3-402G11.27|ENSG00000272836|transcript|ENST00000610050|antisense||n.-1C>G|||||469|,C|downstream_gene_variant|MODIFIER|RP3-402G11.28|ENSG00000273137|transcript|ENST00000608016|antisense||n.*640C>G|||||1930|,C|intron_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|2/8|c.758+11G>C||||||,C|intron_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|1/7|n.79+11G>C|||||| 22 50644969 . G A . . ANN=A|upstream_gene_variant|MODIFIER|RP3-402G11.27|ENSG00000272836|transcript|ENST00000610050|antisense||n.-1C>T|||||478|,A|downstream_gene_variant|MODIFIER|RP3-402G11.28|ENSG00000273137|transcript|ENST00000608016|antisense||n.*640C>T|||||1921|,A|intron_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|2/8|c.758+20G>A||||||,A|intron_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|1/7|n.79+20G>A|||||| 22 50646936 . G C . . ANN=C|upstream_gene_variant|MODIFIER|RP3-402G11.27|ENSG00000272836|transcript|ENST00000610050|antisense||n.-1C>G|||||2445|,C|intron_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|2/8|c.759-29G>C||||||,C|non_coding_exon_variant|MODIFIER|RP3-402G11.28|ENSG00000273137|transcript|ENST00000608016|antisense|2/2|n.594C>G||||||,C|non_coding_exon_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|2/8|n.99G>C|||||| 22 50646998 . T C . . ANN=C|synonymous_variant|LOW|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|3/9|c.792T>C|p.Asp264Asp|850/2315|792/2010|264/669||,C|upstream_gene_variant|MODIFIER|RP3-402G11.27|ENSG00000272836|transcript|ENST00000610050|antisense||n.-1A>G|||||2507|,C|non_coding_exon_variant|MODIFIER|RP3-402G11.28|ENSG00000273137|transcript|ENST00000608016|antisense|2/2|n.532A>G||||||,C|non_coding_exon_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|2/8|n.161T>C|||||| 22 50647038 . G A . . ANN=A|missense_variant|MODERATE|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|3/9|c.832G>A|p.Asp278Asn|890/2315|832/2010|278/669||,A|upstream_gene_variant|MODIFIER|RP3-402G11.27|ENSG00000272836|transcript|ENST00000610050|antisense||n.-1C>T|||||2547|,A|non_coding_exon_variant|MODIFIER|RP3-402G11.28|ENSG00000273137|transcript|ENST00000608016|antisense|2/2|n.492C>T||||||,A|non_coding_exon_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|2/8|n.201G>A|||||| 22 50647085 . C T . . ANN=T|synonymous_variant|LOW|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|3/9|c.879C>T|p.Pro293Pro|937/2315|879/2010|293/669||,T|upstream_gene_variant|MODIFIER|RP3-402G11.27|ENSG00000272836|transcript|ENST00000610050|antisense||n.-1G>A|||||2594|,T|non_coding_exon_variant|MODIFIER|RP3-402G11.28|ENSG00000273137|transcript|ENST00000608016|antisense|2/2|n.445G>A||||||,T|non_coding_exon_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|2/8|n.248C>T|||||| 22 50647086 . G A . . ANN=A|missense_variant|MODERATE|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|3/9|c.880G>A|p.Glu294Lys|938/2315|880/2010|294/669||,A|upstream_gene_variant|MODIFIER|RP3-402G11.27|ENSG00000272836|transcript|ENST00000610050|antisense||n.-1C>T|||||2595|,A|non_coding_exon_variant|MODIFIER|RP3-402G11.28|ENSG00000273137|transcript|ENST00000608016|antisense|2/2|n.444C>T||||||,A|non_coding_exon_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|2/8|n.249G>A|||||| 22 50647098 . G A . . ANN=A|missense_variant|MODERATE|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|3/9|c.892G>A|p.Ala298Thr|950/2315|892/2010|298/669||,A|upstream_gene_variant|MODIFIER|RP3-402G11.27|ENSG00000272836|transcript|ENST00000610050|antisense||n.-1C>T|||||2607|,A|non_coding_exon_variant|MODIFIER|RP3-402G11.28|ENSG00000273137|transcript|ENST00000608016|antisense|2/2|n.432C>T||||||,A|non_coding_exon_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|2/8|n.261G>A|||||| 22 50647166 . C T . . ANN=T|upstream_gene_variant|MODIFIER|RP3-402G11.27|ENSG00000272836|transcript|ENST00000610050|antisense||n.-1G>A|||||2675|,T|intron_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|3/8|c.939+21C>T||||||,T|intron_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|2/7|n.308+21C>T||||||,T|non_coding_exon_variant|MODIFIER|RP3-402G11.28|ENSG00000273137|transcript|ENST00000608016|antisense|2/2|n.364G>A|||||| 22 50647178 . G A . . ANN=A|upstream_gene_variant|MODIFIER|RP3-402G11.27|ENSG00000272836|transcript|ENST00000610050|antisense||n.-1C>T|||||2687|,A|intron_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|3/8|c.939+33G>A||||||,A|intron_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|2/7|n.308+33G>A||||||,A|non_coding_exon_variant|MODIFIER|RP3-402G11.28|ENSG00000273137|transcript|ENST00000608016|antisense|2/2|n.352C>T|||||| 22 50648577 . C T . . ANN=T|upstream_gene_variant|MODIFIER|RP3-402G11.27|ENSG00000272836|transcript|ENST00000610050|antisense||n.-1G>A|||||4086|,T|upstream_gene_variant|MODIFIER|RP3-402G11.28|ENSG00000273137|transcript|ENST00000608016|antisense||n.-1G>A|||||606|,T|intron_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|3/8|c.940-33C>T||||||,T|intron_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|2/7|n.309-33C>T|||||| 22 50648617 . G A . . ANN=A|missense_variant|MODERATE|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|4/9|c.947G>A|p.Arg316Gln|1005/2315|947/2010|316/669||,A|upstream_gene_variant|MODIFIER|RP3-402G11.27|ENSG00000272836|transcript|ENST00000610050|antisense||n.-1C>T|||||4126|,A|upstream_gene_variant|MODIFIER|RP3-402G11.28|ENSG00000273137|transcript|ENST00000608016|antisense||n.-1C>T|||||646|,A|non_coding_exon_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|3/8|n.316G>A|||||| 22 50648681 . C T . . ANN=T|synonymous_variant|LOW|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|4/9|c.1011C>T|p.Thr337Thr|1069/2315|1011/2010|337/669||,T|upstream_gene_variant|MODIFIER|RP3-402G11.27|ENSG00000272836|transcript|ENST00000610050|antisense||n.-1G>A|||||4190|,T|upstream_gene_variant|MODIFIER|RP3-402G11.28|ENSG00000273137|transcript|ENST00000608016|antisense||n.-1G>A|||||710|,T|non_coding_exon_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|3/8|n.380C>T|||||| 22 50648788 . G A . . ANN=A|upstream_gene_variant|MODIFIER|RP3-402G11.27|ENSG00000272836|transcript|ENST00000610050|antisense||n.-1C>T|||||4297|,A|upstream_gene_variant|MODIFIER|RP3-402G11.28|ENSG00000273137|transcript|ENST00000608016|antisense||n.-1C>T|||||817|,A|intron_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|4/8|c.1070+48G>A||||||,A|intron_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|3/7|n.439+48G>A|||||| 22 50648789 . T C . . ANN=C|upstream_gene_variant|MODIFIER|RP3-402G11.27|ENSG00000272836|transcript|ENST00000610050|antisense||n.-1A>G|||||4298|,C|upstream_gene_variant|MODIFIER|RP3-402G11.28|ENSG00000273137|transcript|ENST00000608016|antisense||n.-1A>G|||||818|,C|intron_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|4/8|c.1070+49T>C||||||,C|intron_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|3/7|n.439+49T>C|||||| 22 50649011 . C T . . ANN=T|upstream_gene_variant|MODIFIER|RP3-402G11.27|ENSG00000272836|transcript|ENST00000610050|antisense||n.-1G>A|||||4520|,T|upstream_gene_variant|MODIFIER|RP3-402G11.28|ENSG00000273137|transcript|ENST00000608016|antisense||n.-1G>A|||||1040|,T|intron_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|4/8|c.1071-49C>T||||||,T|intron_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|3/7|n.440-49C>T|||||| 22 50649034 . C T . . ANN=T|upstream_gene_variant|MODIFIER|RP3-402G11.27|ENSG00000272836|transcript|ENST00000610050|antisense||n.-1G>A|||||4543|,T|upstream_gene_variant|MODIFIER|RP3-402G11.28|ENSG00000273137|transcript|ENST00000608016|antisense||n.-1G>A|||||1063|,T|intron_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|4/8|c.1071-26C>T||||||,T|intron_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|3/7|n.440-26C>T|||||| 22 50649103 . C T . . ANN=T|missense_variant|MODERATE|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|5/9|c.1114C>T|p.Arg372Cys|1172/2315|1114/2010|372/669||,T|upstream_gene_variant|MODIFIER|RP3-402G11.27|ENSG00000272836|transcript|ENST00000610050|antisense||n.-1G>A|||||4612|,T|upstream_gene_variant|MODIFIER|RP3-402G11.28|ENSG00000273137|transcript|ENST00000608016|antisense||n.-1G>A|||||1132|,T|non_coding_exon_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|4/8|n.483C>T|||||| 22 50649104 . G A . . ANN=A|missense_variant|MODERATE|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|5/9|c.1115G>A|p.Arg372His|1173/2315|1115/2010|372/669||,A|upstream_gene_variant|MODIFIER|RP3-402G11.27|ENSG00000272836|transcript|ENST00000610050|antisense||n.-1C>T|||||4613|,A|upstream_gene_variant|MODIFIER|RP3-402G11.28|ENSG00000273137|transcript|ENST00000608016|antisense||n.-1C>T|||||1133|,A|non_coding_exon_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|4/8|n.484G>A|||||| 22 50649120 . G T . . ANN=T|missense_variant|MODERATE|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|5/9|c.1131G>T|p.Lys377Asn|1189/2315|1131/2010|377/669||,T|upstream_gene_variant|MODIFIER|RP3-402G11.27|ENSG00000272836|transcript|ENST00000610050|antisense||n.-1C>A|||||4629|,T|upstream_gene_variant|MODIFIER|RP3-402G11.28|ENSG00000273137|transcript|ENST00000608016|antisense||n.-1C>A|||||1149|,T|non_coding_exon_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|4/8|n.500G>T|||||| 22 50649126 . C T . . ANN=T|synonymous_variant|LOW|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|5/9|c.1137C>T|p.Pro379Pro|1195/2315|1137/2010|379/669||,T|upstream_gene_variant|MODIFIER|RP3-402G11.27|ENSG00000272836|transcript|ENST00000610050|antisense||n.-1G>A|||||4635|,T|upstream_gene_variant|MODIFIER|RP3-402G11.28|ENSG00000273137|transcript|ENST00000608016|antisense||n.-1G>A|||||1155|,T|non_coding_exon_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|4/8|n.506C>T|||||| 22 50649210 . C T . . ANN=T|synonymous_variant|LOW|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|5/9|c.1221C>T|p.Ala407Ala|1279/2315|1221/2010|407/669||,T|upstream_gene_variant|MODIFIER|RP3-402G11.27|ENSG00000272836|transcript|ENST00000610050|antisense||n.-1G>A|||||4719|,T|upstream_gene_variant|MODIFIER|RP3-402G11.28|ENSG00000273137|transcript|ENST00000608016|antisense||n.-1G>A|||||1239|,T|non_coding_exon_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|4/8|n.590C>T|||||| 22 50649211 . G A . . ANN=A|missense_variant|MODERATE|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|5/9|c.1222G>A|p.Glu408Lys|1280/2315|1222/2010|408/669||,A|upstream_gene_variant|MODIFIER|RP3-402G11.27|ENSG00000272836|transcript|ENST00000610050|antisense||n.-1C>T|||||4720|,A|upstream_gene_variant|MODIFIER|RP3-402G11.28|ENSG00000273137|transcript|ENST00000608016|antisense||n.-1C>T|||||1240|,A|non_coding_exon_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|4/8|n.591G>A|||||| 22 50649223 . G C . . ANN=C|missense_variant|MODERATE|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|5/9|c.1234G>C|p.Ala412Pro|1292/2315|1234/2010|412/669||,C|upstream_gene_variant|MODIFIER|RP3-402G11.27|ENSG00000272836|transcript|ENST00000610050|antisense||n.-1C>G|||||4732|,C|upstream_gene_variant|MODIFIER|RP3-402G11.28|ENSG00000273137|transcript|ENST00000608016|antisense||n.-1C>G|||||1252|,C|non_coding_exon_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|4/8|n.603G>C|||||| 22 50649297 . C T . . ANN=T|synonymous_variant|LOW|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|5/9|c.1308C>T|p.Asp436Asp|1366/2315|1308/2010|436/669||,T|upstream_gene_variant|MODIFIER|RP3-402G11.27|ENSG00000272836|transcript|ENST00000610050|antisense||n.-1G>A|||||4806|,T|upstream_gene_variant|MODIFIER|RP3-402G11.28|ENSG00000273137|transcript|ENST00000608016|antisense||n.-1G>A|||||1326|,T|non_coding_exon_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|4/8|n.677C>T|||||| 22 50649355 . C T . . ANN=T|upstream_gene_variant|MODIFIER|RP3-402G11.27|ENSG00000272836|transcript|ENST00000610050|antisense||n.-1G>A|||||4864|,T|upstream_gene_variant|MODIFIER|RP3-402G11.28|ENSG00000273137|transcript|ENST00000608016|antisense||n.-1G>A|||||1384|,T|intron_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|5/8|c.1351+15C>T||||||,T|intron_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|4/7|n.720+15C>T|||||| 22 50654153 . C T . . ANN=T|synonymous_variant|LOW|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|6/9|c.1359C>T|p.Asp453Asp|1417/2315|1359/2010|453/669||,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.*5565G>A|||||1965|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.*5274G>A|||||1965|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.*1467G>A|||||1970|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.*4044G>A|||||1970|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.*4975G>A|||||1971|,T|non_coding_exon_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|5/8|n.728C>T|||||| 22 50654168 . C T . . ANN=T|synonymous_variant|LOW|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|6/9|c.1374C>T|p.Phe458Phe|1432/2315|1374/2010|458/669||,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.*5565G>A|||||1950|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.*5274G>A|||||1950|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.*1467G>A|||||1955|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.*4044G>A|||||1955|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.*4975G>A|||||1956|,T|non_coding_exon_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|5/8|n.743C>T|||||| 22 50654186 . C T . . ANN=T|synonymous_variant|LOW|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|6/9|c.1392C>T|p.Phe464Phe|1450/2315|1392/2010|464/669||,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.*5565G>A|||||1932|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.*5274G>A|||||1932|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.*1467G>A|||||1937|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.*4044G>A|||||1937|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.*4975G>A|||||1938|,T|non_coding_exon_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|5/8|n.761C>T|||||| 22 50654198 . A G . . ANN=G|synonymous_variant|LOW|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|6/9|c.1404A>G|p.Leu468Leu|1462/2315|1404/2010|468/669||,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.*5565T>C|||||1920|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.*5274T>C|||||1920|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.*1467T>C|||||1925|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.*4044T>C|||||1925|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.*4975T>C|||||1926|,G|non_coding_exon_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|5/8|n.773A>G|||||| 22 50654204 . G A . . ANN=A|synonymous_variant|LOW|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|6/9|c.1410G>A|p.Ser470Ser|1468/2315|1410/2010|470/669||,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.*5565C>T|||||1914|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.*5274C>T|||||1914|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.*1467C>T|||||1919|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.*4044C>T|||||1919|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.*4975C>T|||||1920|,A|non_coding_exon_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|5/8|n.779G>A|||||| 22 50654253 . C T . . ANN=T|synonymous_variant|LOW|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|6/9|c.1459C>T|p.Leu487Leu|1517/2315|1459/2010|487/669||,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.*5565G>A|||||1865|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.*5274G>A|||||1865|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.*1467G>A|||||1870|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.*4044G>A|||||1870|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.*4975G>A|||||1871|,T|non_coding_exon_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|5/8|n.828C>T|||||| 22 50654305 . T C . . ANN=C|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.*5565A>G|||||1813|,C|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.*5274A>G|||||1813|,C|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.*1467A>G|||||1818|,C|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.*4044A>G|||||1818|,C|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.*4975A>G|||||1819|,C|intron_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|6/8|c.1502+9T>C||||||,C|intron_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|5/7|n.871+9T>C|||||| 22 50654328 . G A . . ANN=A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.*5565C>T|||||1790|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.*5274C>T|||||1790|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.*1467C>T|||||1795|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.*4044C>T|||||1795|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.*4975C>T|||||1796|,A|intron_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|6/8|c.1502+32G>A||||||,A|intron_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|5/7|n.871+32G>A|||||| 22 50655098 . A G . . ANN=G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.*5565T>C|||||1020|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.*5274T>C|||||1020|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.*1467T>C|||||1025|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.*4044T>C|||||1025|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.*4975T>C|||||1026|,G|intron_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|6/8|c.1503-22A>G||||||,G|intron_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|5/7|n.872-22A>G|||||| 22 50655320 . C T . . ANN=T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.*5565G>A|||||798|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.*5274G>A|||||798|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.*1467G>A|||||803|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.*4044G>A|||||803|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.*4975G>A|||||804|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||4869|,T|intron_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|7/8|c.1688+15C>T||||||,T|intron_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|6/7|n.1057+15C>T|||||| 22 50655329 . C T . . ANN=T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.*5565G>A|||||789|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.*5274G>A|||||789|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.*1467G>A|||||794|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.*4044G>A|||||794|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.*4975G>A|||||795|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||4860|,T|intron_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|7/8|c.1688+24C>T||||||,T|intron_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|6/7|n.1057+24C>T|||||| 22 50655344 . C T . . ANN=T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.*5565G>A|||||774|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.*5274G>A|||||774|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.*1467G>A|||||779|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.*4044G>A|||||779|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.*4975G>A|||||780|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||4845|,T|intron_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|7/8|c.1688+39C>T||||||,T|intron_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|6/7|n.1057+39C>T|||||| 22 50655355 . A G . . ANN=G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.*5565T>C|||||763|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.*5274T>C|||||763|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.*1467T>C|||||768|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.*4044T>C|||||768|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.*4975T>C|||||769|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612T>C|||||4834|,G|intron_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|7/8|c.1689-46A>G||||||,G|intron_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|6/7|n.1058-46A>G|||||| 22 50655370 . C A . . ANN=A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.*5565G>T|||||748|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.*5274G>T|||||748|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.*1467G>T|||||753|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.*4044G>T|||||753|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.*4975G>T|||||754|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>T|||||4819|,A|intron_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|7/8|c.1689-31C>A||||||,A|intron_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|6/7|n.1058-31C>A|||||| 22 50655376 . CTCCAGAGCCCGGATGTCAT C . . ANN=|frameshift_variant&splice_acceptor_variant&splice_region_variant&splice_region_variant&intron_variant|HIGH|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|8/9|c.1689-12_1695delATGTCATTCCAGAGCCCGG|p.Arg563fs||1689/2010|563/669||INFO_REALIGN_3_PRIME,|splice_acceptor_variant&splice_region_variant&splice_region_variant&intron_variant&non_coding_exon_variant|HIGH|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|7/8|n.1058-12_1064delATGTCATTCCAGAGCCCGG||||||INFO_REALIGN_3_PRIME,|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.*5565_*5565delATGACATCCGGGCTCTGGA|||||741|,|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.*5274_*5274delATGACATCCGGGCTCTGGA|||||741|,|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.*1467_*1467delATGACATCCGGGCTCTGGA|||||746|,|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.*4044_*4044delATGACATCCGGGCTCTGGA|||||746|,|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.*4975_*4975delATGACATCCGGGCTCTGGA|||||747|,|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612_*612delATGACATCCGGGCTCTGGA|||||4812|;LOF=(SELO|ENSG00000073169|2|0.50) 22 50655397 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|7/8|c.1689-4C>T||||||,T|splice_region_variant&intron_variant|LOW|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|6/7|n.1058-4C>T||||||,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.*5565G>A|||||721|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.*5274G>A|||||721|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.*1467G>A|||||726|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.*4044G>A|||||726|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.*4975G>A|||||727|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||4792| 22 50655468 . G A . . ANN=A|missense_variant|MODERATE|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|8/9|c.1756G>A|p.Val586Met|1814/2315|1756/2010|586/669||,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.*5565C>T|||||650|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.*5274C>T|||||650|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.*1467C>T|||||655|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.*4044C>T|||||655|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.*4975C>T|||||656|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||4721|,A|non_coding_exon_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|7/8|n.1125G>A|||||| 22 50655488 . G A . . ANN=A|synonymous_variant|LOW|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|8/9|c.1776G>A|p.Pro592Pro|1834/2315|1776/2010|592/669||,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.*5565C>T|||||630|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.*5274C>T|||||630|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.*1467C>T|||||635|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.*4044C>T|||||635|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.*4975C>T|||||636|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||4701|,A|non_coding_exon_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|7/8|n.1145G>A|||||| 22 50655528 . G A . . ANN=A|missense_variant|MODERATE|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|8/9|c.1816G>A|p.Glu606Lys|1874/2315|1816/2010|606/669||,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.*5565C>T|||||590|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.*5274C>T|||||590|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.*1467C>T|||||595|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.*4044C>T|||||595|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.*4975C>T|||||596|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||4661|,A|non_coding_exon_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|7/8|n.1185G>A|||||| 22 50655543 . G A . . ANN=A|missense_variant|MODERATE|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|8/9|c.1831G>A|p.Gly611Arg|1889/2315|1831/2010|611/669||,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.*5565C>T|||||575|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.*5274C>T|||||575|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.*1467C>T|||||580|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.*4044C>T|||||580|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.*4975C>T|||||581|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||4646|,A|non_coding_exon_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|7/8|n.1200G>A|||||| 22 50655590 . A AG . . ANN=G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.*5565dupC|||||527|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.*5274dupC|||||527|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.*1467dupC|||||532|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.*4044dupC|||||532|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.*4975dupC|||||533|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612dupC|||||4598|,G|intron_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|8/8|c.1846-38dupG||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|7/7|n.1215-38dupG||||||INFO_REALIGN_3_PRIME 22 50655628 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|8/8|c.1846-6C>T||||||,T|splice_region_variant&intron_variant|LOW|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|7/7|n.1215-6C>T||||||,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.*5565G>A|||||490|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.*5274G>A|||||490|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.*1467G>A|||||495|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.*4044G>A|||||495|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.*4975G>A|||||496|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||4561| 22 50655669 . C T . . ANN=T|synonymous_variant|LOW|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|9/9|c.1881C>T|p.Tyr627Tyr|1939/2315|1881/2010|627/669||,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.*5565G>A|||||449|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.*5274G>A|||||449|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.*1467G>A|||||454|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.*4044G>A|||||454|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.*4975G>A|||||455|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||4520|,T|non_coding_exon_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|8/8|n.1250C>T|||||| 22 50655676 . G A . . ANN=A|missense_variant|MODERATE|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|9/9|c.1888G>A|p.Glu630Lys|1946/2315|1888/2010|630/669||,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.*5565C>T|||||442|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.*5274C>T|||||442|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.*1467C>T|||||447|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.*4044C>T|||||447|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.*4975C>T|||||448|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||4513|,A|non_coding_exon_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|8/8|n.1257G>A|||||| 22 50655700 . G A . . ANN=A|missense_variant|MODERATE|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|9/9|c.1912G>A|p.Glu638Lys|1970/2315|1912/2010|638/669||,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.*5565C>T|||||418|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.*5274C>T|||||418|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.*1467C>T|||||423|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.*4044C>T|||||423|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.*4975C>T|||||424|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||4489|,A|non_coding_exon_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|8/8|n.1281G>A|||||| 22 50655722 . C T . . ANN=T|missense_variant|MODERATE|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|9/9|c.1934C>T|p.Ala645Val|1992/2315|1934/2010|645/669||,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.*5565G>A|||||396|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.*5274G>A|||||396|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.*1467G>A|||||401|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.*4044G>A|||||401|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.*4975G>A|||||402|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||4467|,T|non_coding_exon_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|8/8|n.1303C>T|||||| 22 50655723 . G A . . ANN=A|synonymous_variant|LOW|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|9/9|c.1935G>A|p.Ala645Ala|1993/2315|1935/2010|645/669||,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.*5565C>T|||||395|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.*5274C>T|||||395|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.*1467C>T|||||400|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.*4044C>T|||||400|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.*4975C>T|||||401|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||4466|,A|non_coding_exon_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|8/8|n.1304G>A|||||| 22 50655736 . C T . . ANN=T|missense_variant|MODERATE|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|9/9|c.1948C>T|p.Arg650Cys|2006/2315|1948/2010|650/669||,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.*5565G>A|||||382|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.*5274G>A|||||382|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.*1467G>A|||||387|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.*4044G>A|||||387|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.*4975G>A|||||388|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||4453|,T|non_coding_exon_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|8/8|n.1317C>T|||||| 22 50655758 . C T . . ANN=T|missense_variant|MODERATE|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|9/9|c.1970C>T|p.Pro657Leu|2028/2315|1970/2010|657/669||,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.*5565G>A|||||360|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.*5274G>A|||||360|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.*1467G>A|||||365|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.*4044G>A|||||365|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.*4975G>A|||||366|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||4431|,T|non_coding_exon_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|8/8|n.1339C>T|||||| 22 50655781 . G A . . ANN=A|missense_variant|MODERATE|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|9/9|c.1993G>A|p.Val665Met|2051/2315|1993/2010|665/669||,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.*5565C>T|||||337|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.*5274C>T|||||337|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.*1467C>T|||||342|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.*4044C>T|||||342|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.*4975C>T|||||343|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||4408|,A|non_coding_exon_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|8/8|n.1362G>A|||||| 22 50655799 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|9/9|c.*1C>T|||||1|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.*5565G>A|||||319|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.*5274G>A|||||319|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.*1467G>A|||||324|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.*4044G>A|||||324|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.*4975G>A|||||325|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||4390|,T|non_coding_exon_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|8/8|n.1380C>T|||||| 22 50655815 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|9/9|c.*17C>T|||||17|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.*5565G>A|||||303|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.*5274G>A|||||303|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.*1467G>A|||||308|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.*4044G>A|||||308|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.*4975G>A|||||309|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||4374|,T|non_coding_exon_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|8/8|n.1396C>T|||||| 22 50655822 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|9/9|c.*24C>T|||||24|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.*5565G>A|||||296|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.*5274G>A|||||296|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.*1467G>A|||||301|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.*4044G>A|||||301|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.*4975G>A|||||302|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||4367|,T|non_coding_exon_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|8/8|n.1403C>T|||||| 22 50656126 . G A . . ANN=A|splice_region_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|25/25|c.*1076C>T||||||,A|3_prime_UTR_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|25/25|c.*39C>T|||||39|,A|3_prime_UTR_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|10/10|c.*39C>T|||||39|,A|3_prime_UTR_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|25/25|c.*1076C>T|||||1652|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>A|||||81|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>A|||||81|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||4063|,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|23/23|n.5266C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|16/16|n.4041C>T|||||| 22 50656147 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|25/25|c.*18C>T|||||18|,A|3_prime_UTR_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|10/10|c.*18C>T|||||18|,A|3_prime_UTR_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|25/25|c.*1055C>T|||||1631|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>A|||||102|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>A|||||102|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||4042|,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|23/23|n.5245C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|16/16|n.4020C>T|||||| 22 50656192 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|25/25|c.5433C>T|p.Asn1811Asn|5538/5612|5433/5460|1811/1819||,A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|10/10|c.1440C>T|p.Asn480Asn|1440/1509|1440/1467|480/488||,A|3_prime_UTR_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|25/25|c.*1010C>T|||||1586|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>A|||||147|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>A|||||147|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||3997|,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|23/23|n.5200C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|16/16|n.3975C>T|||||| 22 50656247 . T C . . ANN=C|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|25/25|c.5378A>G|p.Lys1793Arg|5483/5612|5378/5460|1793/1819||,C|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|10/10|c.1385A>G|p.Lys462Arg|1385/1509|1385/1467|462/488||,C|3_prime_UTR_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|25/25|c.*955A>G|||||1531|,C|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068T>C|||||202|,C|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626T>C|||||202|,C|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612A>G|||||3942|,C|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|23/23|n.5145A>G||||||,C|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|16/16|n.3920A>G|||||| 22 50656262 . G GA . . ANN=A|splice_region_variant&intron_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|24/24|c.5369-7dupT||||||,A|splice_region_variant&intron_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|22/22|n.5136-7dupT||||||,A|splice_region_variant&intron_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|9/9|c.1376-7dupT||||||,A|splice_region_variant&intron_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|15/15|n.3911-7dupT||||||,A|splice_region_variant&intron_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|24/24|c.*946-7dupT||||||,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068_*2068insA|||||218|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626_*1626insA|||||218|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612dupT|||||3926| 22 50656269 . G A . . ANN=A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>A|||||224|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>A|||||224|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||3920|,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|24/24|c.5369-13C>T||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|22/22|n.5136-13C>T||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|9/9|c.1376-13C>T||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|15/15|n.3911-13C>T||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|24/24|c.*946-13C>T|||||| 22 50656317 . C G . . ANN=G|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>G|||||272|,G|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>G|||||272|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>C|||||3872|,G|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|24/24|c.5368+30G>C||||||,G|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|22/22|n.5135+30G>C||||||,G|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|9/9|c.1375+30G>C||||||,G|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|15/15|n.3910+30G>C||||||,G|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|24/24|c.*945+30G>C|||||| 22 50656322 . C T . . ANN=T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>T|||||277|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>T|||||277|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||3867|,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|24/24|c.5368+25G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|22/22|n.5135+25G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|9/9|c.1375+25G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|15/15|n.3910+25G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|24/24|c.*945+25G>A|||||| 22 50656428 . G A . . ANN=A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|24/25|c.5287C>T|p.Arg1763Trp|5392/5612|5287/5460|1763/1819||,A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|9/10|c.1294C>T|p.Arg432Trp|1294/1509|1294/1467|432/488||,A|3_prime_UTR_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|24/25|c.*864C>T|||||1350|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>A|||||383|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>A|||||383|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||3761|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>T|||||4988|,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|22/23|n.5054C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|15/16|n.3829C>T|||||| 22 50656429 . CGGGCCCCCAGG C . . ANN=|frameshift_variant|HIGH|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|24/25|c.5275_5285delCCTGGGGGCCC|p.Pro1759fs|5390/5612|5275/5460|1759/1819||,|frameshift_variant|HIGH|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|9/10|c.1282_1292delCCTGGGGGCCC|p.Pro428fs|1292/1509|1282/1467|428/488||,|3_prime_UTR_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|24/25|c.*852_*862delCCTGGGGGCCC|||||1338|,|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068_*2068delGGGCCCCCAGG|||||385|,|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626_*1626delGGGCCCCCAGG|||||385|,|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612_*612delCCTGGGGGCCC|||||3759|,|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733_*1733delCCTGGGGGCCC|||||4986|,|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|22/23|n.5042_5052delCCTGGGGGCCC||||||,|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|15/16|n.3817_3827delCCTGGGGGCCC||||||;LOF=(TUBGCP6|ENSG00000128159|8|0.13) 22 50656430 . G A . . ANN=A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|24/25|c.5285C>T|p.Pro1762Leu|5390/5612|5285/5460|1762/1819||,A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|9/10|c.1292C>T|p.Pro431Leu|1292/1509|1292/1467|431/488||,A|3_prime_UTR_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|24/25|c.*862C>T|||||1348|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>A|||||385|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>A|||||385|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||3759|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>T|||||4986|,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|22/23|n.5052C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|15/16|n.3827C>T|||||| 22 50656461 . T C . . ANN=C|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|24/25|c.5254A>G|p.Ile1752Val|5359/5612|5254/5460|1752/1819||,C|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|9/10|c.1261A>G|p.Ile421Val|1261/1509|1261/1467|421/488||,C|3_prime_UTR_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|24/25|c.*831A>G|||||1317|,C|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068T>C|||||416|,C|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626T>C|||||416|,C|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612A>G|||||3728|,C|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733A>G|||||4955|,C|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|22/23|n.5021A>G||||||,C|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|15/16|n.3796A>G|||||| 22 50656534 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|8/9|c.1195-7G>A||||||,T|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|24/25|c.5181G>A|p.Thr1727Thr|5286/5612|5181/5460|1727/1819||,T|3_prime_UTR_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|24/25|c.*758G>A|||||1244|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>T|||||489|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>T|||||489|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||3655|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>A|||||4882|,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|22/23|n.4948G>A||||||,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|15/16|n.3723G>A|||||| 22 50656587 . C G . . ANN=G|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>G|||||542|,G|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>G|||||542|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>C|||||3602|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>C|||||4829|,G|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|23/24|c.5168+31G>C||||||,G|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|8/9|c.1194+31G>C||||||,G|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|14/15|n.3710+31G>C||||||,G|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|23/24|c.*745+31G>C||||||,G|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|22/23|n.4895G>C|||||| 22 50656647 . G A . . ANN=A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|8/10|c.1165C>T|p.Arg389Cys|1165/1509|1165/1467|389/488||,A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|23/25|c.5139C>T|p.His1713His|5244/5612|5139/5460|1713/1819||,A|3_prime_UTR_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|23/25|c.*716C>T|||||1131|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>A|||||602|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>A|||||602|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||3542|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>T|||||4769|,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|22/23|n.4835C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|14/16|n.3681C>T|||||| 22 50656650 . C T . . ANN=T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|8/10|c.1162G>A|p.Ala388Thr|1162/1509|1162/1467|388/488||,T|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|23/25|c.5136G>A|p.Ala1712Ala|5241/5612|5136/5460|1712/1819||,T|3_prime_UTR_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|23/25|c.*713G>A|||||1128|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>T|||||605|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>T|||||605|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||3539|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>A|||||4766|,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|22/23|n.4832G>A||||||,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|14/16|n.3678G>A|||||| 22 50656734 . G A . . ANN=A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|8/10|c.1078C>T|p.Arg360Cys|1078/1509|1078/1467|360/488||,A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|23/25|c.5052C>T|p.Ile1684Ile|5157/5612|5052/5460|1684/1819||,A|3_prime_UTR_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|23/25|c.*629C>T|||||1044|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>A|||||689|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>A|||||689|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||3455|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>T|||||4682|,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|22/23|n.4748C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|14/16|n.3594C>T|||||| 22 50656736 . T C . . ANN=C|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|23/25|c.5050A>G|p.Ile1684Val|5155/5612|5050/5460|1684/1819||,C|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|8/10|c.1076A>G|p.His359Arg|1076/1509|1076/1467|359/488||,C|3_prime_UTR_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|23/25|c.*627A>G|||||1042|,C|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068T>C|||||691|,C|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626T>C|||||691|,C|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612A>G|||||3453|,C|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733A>G|||||4680|,C|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|22/23|n.4746A>G||||||,C|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|14/16|n.3592A>G|||||| 22 50656818 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|23/25|c.4968C>T|p.His1656His|5073/5612|4968/5460|1656/1819||,A|3_prime_UTR_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|23/25|c.*545C>T|||||960|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>A|||||773|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>A|||||773|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||3371|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>T|||||4598|,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|7/9|c.1013-19C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|22/23|n.4664C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|14/16|n.3510C>T|||||| 22 50656897 . G GGGCTCCA . . ANN=GGCTCCA|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068_*2068insGGCTCCA|||||853|,GGCTCCA|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626_*1626insGGCTCCA|||||853|,GGCTCCA|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612_*612dupTGGAGCC|||||3291|,GGCTCCA|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733_*1733dupTGGAGCC|||||4518|,GGCTCCA|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|22/24|c.4954+13_4954+19dupTGGAGCC||||||,GGCTCCA|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|21/22|n.4650+13_4650+19dupTGGAGCC||||||,GGCTCCA|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|7/9|c.1012+13_1012+19dupTGGAGCC||||||,GGCTCCA|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|13/15|n.3496+13_3496+19dupTGGAGCC||||||,GGCTCCA|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|22/24|c.*531+13_*531+19dupTGGAGCC|||||| 22 50656942 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|22/25|c.4929C>T|p.Asp1643Asp|5034/5612|4929/5460|1643/1819||,A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|7/10|c.987C>T|p.Asp329Asp|987/1509|987/1467|329/488||,A|3_prime_UTR_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|22/25|c.*506C>T|||||836|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>A|||||897|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>A|||||897|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||3247|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>T|||||4474|,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|21/23|n.4625C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|13/16|n.3471C>T|||||| 22 50656951 . C T . . ANN=T|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|22/25|c.4920G>A|p.Ala1640Ala|5025/5612|4920/5460|1640/1819||,T|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|7/10|c.978G>A|p.Ala326Ala|978/1509|978/1467|326/488||,T|3_prime_UTR_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|22/25|c.*497G>A|||||827|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>T|||||906|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>T|||||906|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||3238|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>A|||||4465|,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|21/23|n.4616G>A||||||,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|13/16|n.3462G>A|||||| 22 50657008 . C T . . ANN=T|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|22/25|c.4863G>A|p.Val1621Val|4968/5612|4863/5460|1621/1819||,T|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|7/10|c.921G>A|p.Val307Val|921/1509|921/1467|307/488||,T|3_prime_UTR_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|22/25|c.*440G>A|||||770|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>T|||||963|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>T|||||963|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||3181|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>A|||||4408|,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|21/23|n.4559G>A||||||,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|13/16|n.3405G>A|||||| 22 50657010 . C G . . ANN=G|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|22/25|c.4861G>C|p.Val1621Leu|4966/5612|4861/5460|1621/1819||,G|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|7/10|c.919G>C|p.Val307Leu|919/1509|919/1467|307/488||,G|3_prime_UTR_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|22/25|c.*438G>C|||||768|,G|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>G|||||965|,G|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>G|||||965|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>C|||||3179|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>C|||||4406|,G|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|21/23|n.4557G>C||||||,G|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|13/16|n.3403G>C|||||| 22 50657112 . C T . . ANN=T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>T|||||1067|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>T|||||1067|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||3077|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>A|||||4304|,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|21/24|c.4821+20G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|20/22|n.4517+20G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|6/9|c.879+20G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|12/15|n.3363+20G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|21/24|c.*398+20G>A|||||| 22 50657118 . G A . . ANN=A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>A|||||1073|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>A|||||1073|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||3071|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>T|||||4298|,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|21/24|c.4821+14C>T||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|20/22|n.4517+14C>T||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|6/9|c.879+14C>T||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|12/15|n.3363+14C>T||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|21/24|c.*398+14C>T|||||| 22 50657189 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|21/25|c.4764C>T|p.Pro1588Pro|4869/5612|4764/5460|1588/1819||,A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|6/10|c.822C>T|p.Pro274Pro|822/1509|822/1467|274/488||,A|3_prime_UTR_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|21/25|c.*341C>T|||||589|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>A|||||1144|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>A|||||1144|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||3000|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>T|||||4227|,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|20/23|n.4460C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|12/16|n.3306C>T|||||| 22 50657206 . C T . . ANN=T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|21/25|c.4747G>A|p.Ala1583Thr|4852/5612|4747/5460|1583/1819||,T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|6/10|c.805G>A|p.Ala269Thr|805/1509|805/1467|269/488||,T|3_prime_UTR_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|21/25|c.*324G>A|||||572|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>T|||||1161|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>T|||||1161|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||2983|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>A|||||4210|,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|20/23|n.4443G>A||||||,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|12/16|n.3289G>A|||||| 22 50657207 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|21/25|c.4746C>T|p.Leu1582Leu|4851/5612|4746/5460|1582/1819||,A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|6/10|c.804C>T|p.Leu268Leu|804/1509|804/1467|268/488||,A|3_prime_UTR_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|21/25|c.*323C>T|||||571|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>A|||||1162|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>A|||||1162|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||2982|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>T|||||4209|,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|20/23|n.4442C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|12/16|n.3288C>T|||||| 22 50657219 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|21/25|c.4734C>T|p.Ser1578Ser|4839/5612|4734/5460|1578/1819||,A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|6/10|c.792C>T|p.Ser264Ser|792/1509|792/1467|264/488||,A|3_prime_UTR_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|21/25|c.*311C>T|||||559|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>A|||||1174|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>A|||||1174|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||2970|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>T|||||4197|,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|20/23|n.4430C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|12/16|n.3276C>T|||||| 22 50657225 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|21/25|c.4728C>T|p.His1576His|4833/5612|4728/5460|1576/1819||,A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|6/10|c.786C>T|p.His262His|786/1509|786/1467|262/488||,A|3_prime_UTR_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|21/25|c.*305C>T|||||553|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>A|||||1180|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>A|||||1180|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||2964|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>T|||||4191|,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|20/23|n.4424C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|12/16|n.3270C>T|||||| 22 50657610 . C T . . ANN=T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|20/25|c.4513G>A|p.Asp1505Asn|4618/5612|4513/5460|1505/1819||,T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|5/10|c.571G>A|p.Asp191Asn|571/1509|571/1467|191/488||,T|3_prime_UTR_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|20/25|c.*90G>A|||||168|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>T|||||1565|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>T|||||1565|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||2579|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>A|||||3806|,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|19/23|n.4209G>A||||||,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|11/16|n.3055G>A|||||| 22 50657611 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|20/25|c.4512C>T|p.Val1504Val|4617/5612|4512/5460|1504/1819||,A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|5/10|c.570C>T|p.Val190Val|570/1509|570/1467|190/488||,A|3_prime_UTR_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|20/25|c.*89C>T|||||167|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>A|||||1566|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>A|||||1566|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||2578|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>T|||||3805|,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|19/23|n.4208C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|11/16|n.3054C>T|||||| 22 50657616 . C T . . ANN=T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|20/25|c.4507G>A|p.Ala1503Thr|4612/5612|4507/5460|1503/1819||,T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|5/10|c.565G>A|p.Ala189Thr|565/1509|565/1467|189/488||,T|3_prime_UTR_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|20/25|c.*84G>A|||||162|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>T|||||1571|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>T|||||1571|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||2573|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>A|||||3800|,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|19/23|n.4203G>A||||||,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|11/16|n.3049G>A|||||| 22 50657708 . G T . . ANN=T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>T|||||1663|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>T|||||1663|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>A|||||2481|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>A|||||3708|,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|19/24|c.4484+9C>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|18/22|n.4180+9C>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|4/9|c.542+9C>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|10/15|n.3026+9C>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|19/24|c.*61+9C>A|||||| 22 50657764 . C T . . ANN=T|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|19/25|c.4437G>A|p.Thr1479Thr|4542/5612|4437/5460|1479/1819||,T|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|4/10|c.495G>A|p.Thr165Thr|495/1509|495/1467|165/488||,T|3_prime_UTR_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|19/25|c.*14G>A|||||14|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>T|||||1719|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>T|||||1719|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||2425|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>A|||||3652|,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|18/23|n.4133G>A||||||,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|10/16|n.2979G>A|||||| 22 50657803 . G A . . ANN=A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|19/25|c.4457C>T|p.Pro1486Leu|4950/6053|4457/4482|1486/1493||,A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|19/25|c.4398C>T|p.Ala1466Ala|4503/5612|4398/5460|1466/1819||,A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|4/10|c.456C>T|p.Ala152Ala|456/1509|456/1467|152/488||,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>A|||||1758|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>A|||||1758|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||2386|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>T|||||3613|,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|18/23|n.4094C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|10/16|n.2940C>T|||||| 22 50657875 . G A . . ANN=A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|19/25|c.4385C>T|p.Pro1462Leu|4878/6053|4385/4482|1462/1493||,A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|19/25|c.4326C>T|p.Pro1442Pro|4431/5612|4326/5460|1442/1819||,A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|4/10|c.384C>T|p.Pro128Pro|384/1509|384/1467|128/488||,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>A|||||1830|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>A|||||1830|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||2314|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>T|||||3541|,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|18/23|n.4022C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|10/16|n.2868C>T|||||| 22 50657884 . G T . . ANN=T|missense_variant&splice_region_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|19/25|c.4376C>A|p.Pro1459Gln|4869/6053|4376/4482|1459/1493||,T|splice_region_variant&synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|19/25|c.4317C>A|p.Ser1439Ser|4422/5612|4317/5460|1439/1819||,T|splice_region_variant&synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|4/10|c.375C>A|p.Ser125Ser|375/1509|375/1467|125/488||,T|splice_region_variant&non_coding_exon_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|10/16|n.2859C>A||||||,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>T|||||1839|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>T|||||1839|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>A|||||2305|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>A|||||3532|,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|18/23|n.4013C>A|||||| 22 50658030 . A G . . ANN=G|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068A>G|||||1985|,G|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626A>G|||||1985|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612T>C|||||2159|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733T>C|||||3386|,G|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|18/24|c.4315+43T>C||||||,G|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|3/9|c.373+43T>C||||||,G|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|9/15|n.2857+43T>C||||||,G|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|18/24|c.4374+43T>C||||||,G|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|18/23|n.3867T>C|||||| 22 50658033 . C T . . ANN=T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>T|||||1988|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>T|||||1988|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||2156|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>A|||||3383|,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|18/24|c.4315+40G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|3/9|c.373+40G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|9/15|n.2857+40G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|18/24|c.4374+40G>A||||||,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|18/23|n.3864G>A|||||| 22 50658035 . G A . . ANN=A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>A|||||1990|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>A|||||1990|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||2154|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>T|||||3381|,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|18/24|c.4315+38C>T||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|3/9|c.373+38C>T||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|9/15|n.2857+38C>T||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|18/24|c.4374+38C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|18/23|n.3862C>T|||||| 22 50658045 . C T . . ANN=T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>T|||||2000|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>T|||||2000|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||2144|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>A|||||3371|,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|18/24|c.4315+28G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|3/9|c.373+28G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|9/15|n.2857+28G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|18/24|c.4374+28G>A||||||,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|18/23|n.3852G>A|||||| 22 50658053 . A G . . ANN=G|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068A>G|||||2008|,G|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626A>G|||||2008|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612T>C|||||2136|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733T>C|||||3363|,G|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|18/24|c.4315+20T>C||||||,G|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|3/9|c.373+20T>C||||||,G|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|9/15|n.2857+20T>C||||||,G|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|18/24|c.4374+20T>C||||||,G|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|18/23|n.3844T>C|||||| 22 50658099 . C T . . ANN=T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|18/25|c.4289G>A|p.Arg1430Gln|4394/5612|4289/5460|1430/1819||,T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|3/10|c.347G>A|p.Arg116Gln|347/1509|347/1467|116/488||,T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|18/25|c.4348G>A|p.Gly1450Ser|4841/6053|4348/4482|1450/1493||,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>T|||||2054|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>T|||||2054|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||2090|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>A|||||3317|,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|18/23|n.3798G>A||||||,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|9/16|n.2831G>A|||||| 22 50658116 . CCCTGCCAGG C . . ANN=|disruptive_inframe_deletion|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|18/25|c.4263_4271delCCTGGCAGG|p.Leu1422_Gly1424del|4376/5612|4263/5460|1421/1819||,|disruptive_inframe_deletion|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|3/10|c.321_329delCCTGGCAGG|p.Leu108_Gly110del|329/1509|321/1467|107/488||,|disruptive_inframe_deletion|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|18/25|c.4322_4330delCCTGGCAGG|p.Ala1441_Gln1443del|4823/6053|4322/4482|1441/1493||,|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068_*2068delCCTGCCAGG|||||2072|,|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626_*1626delCCTGCCAGG|||||2072|,|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612_*612delCCTGGCAGG|||||2072|,|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733_*1733delCCTGGCAGG|||||3299|,|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|18/23|n.3772_3780delCCTGGCAGG||||||,|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|9/16|n.2805_2813delCCTGGCAGG|||||| 22 50658161 . C T . . ANN=T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|18/25|c.4286G>A|p.Arg1429Gln|4779/6053|4286/4482|1429/1493||,T|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|18/25|c.4227G>A|p.Ala1409Ala|4332/5612|4227/5460|1409/1819||,T|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|3/10|c.285G>A|p.Ala95Ala|285/1509|285/1467|95/488||,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>T|||||2116|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>T|||||2116|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||2028|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>A|||||3255|,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|18/23|n.3736G>A||||||,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|9/16|n.2769G>A|||||| 22 50658165 . G A . . ANN=A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|18/25|c.4223C>T|p.Ala1408Val|4328/5612|4223/5460|1408/1819||,A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|3/10|c.281C>T|p.Ala94Val|281/1509|281/1467|94/488||,A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|18/25|c.4282C>T|p.Arg1428Trp|4775/6053|4282/4482|1428/1493||,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>A|||||2120|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>A|||||2120|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||2024|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>T|||||3251|,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|18/23|n.3732C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|9/16|n.2765C>T|||||| 22 50658170 . T C . . ANN=C|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|18/25|c.4277A>G|p.His1426Arg|4770/6053|4277/4482|1426/1493||,C|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|18/25|c.4218A>G|p.Ala1406Ala|4323/5612|4218/5460|1406/1819||,C|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|3/10|c.276A>G|p.Ala92Ala|276/1509|276/1467|92/488||,C|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068T>C|||||2125|,C|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626T>C|||||2125|,C|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612A>G|||||2019|,C|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733A>G|||||3246|,C|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|18/23|n.3727A>G||||||,C|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|9/16|n.2760A>G|||||| 22 50658203 . C A . . ANN=A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|18/25|c.4185G>T|p.Gln1395His|4290/5612|4185/5460|1395/1819||,A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|3/10|c.243G>T|p.Gln81His|243/1509|243/1467|81/488||,A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|18/25|c.4244G>T|p.Arg1415Ile|4737/6053|4244/4482|1415/1493||,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>A|||||2158|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>A|||||2158|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>T|||||1986|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>T|||||3213|,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|18/23|n.3694G>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|9/16|n.2727G>T|||||| 22 50658244 . C G . . ANN=G|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>G|||||2199|,G|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>G|||||2199|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>C|||||1945|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>C|||||3172|,G|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|17/24|c.4168-24G>C||||||,G|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|17/22|n.3677-24G>C||||||,G|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|2/9|c.226-24G>C||||||,G|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/15|n.2710-24G>C||||||,G|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|17/24|c.4227-24G>C|||||| 22 50658253 . C T . . ANN=T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>T|||||2208|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>T|||||2208|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||1936|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>A|||||3163|,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|17/24|c.4168-33G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|17/22|n.3677-33G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|2/9|c.226-33G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/15|n.2710-33G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|17/24|c.4227-33G>A|||||| 22 50658260 . C T . . ANN=T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>T|||||2215|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>T|||||2215|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||1929|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>A|||||3156|,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|17/24|c.4168-40G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|17/22|n.3677-40G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|2/9|c.226-40G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/15|n.2710-40G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|17/24|c.4227-40G>A|||||| 22 50658261 . G A . . ANN=A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>A|||||2216|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>A|||||2216|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||1928|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>T|||||3155|,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|17/24|c.4168-41C>T||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|17/22|n.3677-41C>T||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|2/9|c.226-41C>T||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/15|n.2710-41C>T||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|17/24|c.4227-41C>T|||||| 22 50658339 . G C . . ANN=C|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>C|||||2294|,C|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>C|||||2294|,C|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>G|||||1850|,C|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>G|||||3077|,C|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|17/24|c.4167+47C>G||||||,C|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|17/22|n.3676+47C>G||||||,C|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|2/9|c.225+47C>G||||||,C|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/15|n.2709+47C>G||||||,C|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|17/24|c.4226+47C>G|||||| 22 50658357 . G A . . ANN=A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>A|||||2312|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>A|||||2312|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||1832|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>T|||||3059|,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|17/24|c.4167+29C>T||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|17/22|n.3676+29C>T||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|2/9|c.225+29C>T||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/15|n.2709+29C>T||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|17/24|c.4226+29C>T|||||| 22 50658424 . T C . . ANN=C|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|17/25|c.4129A>G|p.Thr1377Ala|4234/5612|4129/5460|1377/1819||,C|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|2/10|c.187A>G|p.Thr63Ala|187/1509|187/1467|63/488||,C|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|17/25|c.4188A>G|p.Thr1396Thr|4681/6053|4188/4482|1396/1493||,C|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068T>C|||||2379|,C|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626T>C|||||2379|,C|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612A>G|||||1765|,C|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733A>G|||||2992|,C|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|17/23|n.3638A>G||||||,C|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.2671A>G|||||| 22 50658430 . C T . . ANN=T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|17/25|c.4123G>A|p.Gly1375Arg|4228/5612|4123/5460|1375/1819||,T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|2/10|c.181G>A|p.Gly61Arg|181/1509|181/1467|61/488||,T|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|17/25|c.4182G>A|p.Ala1394Ala|4675/6053|4182/4482|1394/1493||,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>T|||||2385|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>T|||||2385|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||1759|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>A|||||2986|,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|17/23|n.3632G>A||||||,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.2665G>A|||||| 22 50658466 . C T . . ANN=T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>T|||||2421|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>T|||||2421|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||1723|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>A|||||2950|,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/24|c.4109-22G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/22|n.3618-22G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|1/9|c.167-22G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/24|c.4168-22G>A||||||,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.2629G>A|||||| 22 50658467 . G A . . ANN=A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>A|||||2422|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>A|||||2422|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||1722|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>T|||||2949|,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/24|c.4109-23C>T||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/22|n.3618-23C>T||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|1/9|c.167-23C>T||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/24|c.4168-23C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.2628C>T|||||| 22 50658494 . C A . . ANN=A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>A|||||2449|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>A|||||2449|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>T|||||1695|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>T|||||2922|,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/24|c.4109-50G>T||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/22|n.3618-50G>T||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|1/9|c.167-50G>T||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/24|c.4168-50G>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.2601G>T|||||| 22 50658640 . CCA C . . ANN=|frameshift_variant|HIGH|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.4146_4147delTG|p.Cys1382fs|4640/6053|4146/4482|1382/1493||,|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068_*2068delCA|||||2596|,|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626_*1626delCA|||||2596|,|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612_*612delTG|||||1548|,|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733_*1733delTG|||||2775|,|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/24|c.4108+38_4108+39delTG||||||,|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/22|n.3618-198_3618-197delTG||||||,|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|1/9|c.166+38_166+39delTG||||||,|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.2453_2454delTG||||||;LOF=(TUBGCP6|ENSG00000128159|8|0.13) 22 50658686 . C T . . ANN=T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.4102G>A|p.Glu1368Lys|4207/5612|4102/5460|1368/1819||,T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|1/10|c.160G>A|p.Glu54Lys|160/1509|160/1467|54/488||,T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.4102G>A|p.Glu1368Lys|4595/6053|4102/4482|1368/1493||,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>T|||||2641|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>T|||||2641|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||1503|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>A|||||2730|,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/22|n.3618-242G>A||||||,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.2409G>A|||||| 22 50658695 . C G . . ANN=G|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.4093G>C|p.Val1365Leu|4198/5612|4093/5460|1365/1819||,G|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|1/10|c.151G>C|p.Val51Leu|151/1509|151/1467|51/488||,G|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.4093G>C|p.Val1365Leu|4586/6053|4093/4482|1365/1493||,G|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>G|||||2650|,G|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>G|||||2650|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>C|||||1494|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>C|||||2721|,G|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/22|n.3618-251G>C||||||,G|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.2400G>C|||||| 22 50658698 . T A . . ANN=A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.4090A>T|p.Ser1364Cys|4195/5612|4090/5460|1364/1819||,A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|1/10|c.148A>T|p.Ser50Cys|148/1509|148/1467|50/488||,A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.4090A>T|p.Ser1364Cys|4583/6053|4090/4482|1364/1493||,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068T>A|||||2653|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626T>A|||||2653|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612A>T|||||1491|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733A>T|||||2718|,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/22|n.3618-254A>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.2397A>T|||||| 22 50658702 . TC T . . ANN=|frameshift_variant|HIGH|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.4085delG|p.Gly1362fs|4190/5612|4085/5460|1362/1819||,|frameshift_variant|HIGH|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|1/10|c.143delG|p.Gly48fs|143/1509|143/1467|48/488||,|frameshift_variant|HIGH|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.4085delG|p.Gly1362fs|4578/6053|4085/4482|1362/1493||,|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068delC|||||2658|,|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626delC|||||2658|,|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612delG|||||1486|,|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733delG|||||2713|,|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/22|n.3618-259delG||||||,|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.2392delG||||||;LOF=(TUBGCP6|ENSG00000128159|8|0.38) 22 50658847 . A G . . ANN=G|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.3941T>C|p.Val1314Ala|4046/5612|3941/5460|1314/1819||,G|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.3941T>C|p.Val1314Ala|4434/6053|3941/4482|1314/1493||,G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1T>C|||||2|,G|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068A>G|||||2802|,G|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626A>G|||||2802|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612T>C|||||1342|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733T>C|||||2569|,G|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/22|n.3618-403T>C||||||,G|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.2248T>C|||||| 22 50658885 . C T . . ANN=T|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.3903G>A|p.Thr1301Thr|4008/5612|3903/5460|1301/1819||,T|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.3903G>A|p.Thr1301Thr|4396/6053|3903/4482|1301/1493||,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1G>A|||||40|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>T|||||2840|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>T|||||2840|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||1304|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>A|||||2531|,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/22|n.3618-441G>A||||||,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.2210G>A|||||| 22 50658906 . T C . . ANN=C|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.3882A>G|p.Gln1294Gln|3987/5612|3882/5460|1294/1819||,C|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.3882A>G|p.Gln1294Gln|4375/6053|3882/4482|1294/1493||,C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1A>G|||||61|,C|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068T>C|||||2861|,C|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626T>C|||||2861|,C|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612A>G|||||1283|,C|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733A>G|||||2510|,C|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/22|n.3618-462A>G||||||,C|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.2189A>G|||||| 22 50658966 . C T . . ANN=T|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.3822G>A|p.Pro1274Pro|3927/5612|3822/5460|1274/1819||,T|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.3822G>A|p.Pro1274Pro|4315/6053|3822/4482|1274/1493||,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1G>A|||||121|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>T|||||2921|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>T|||||2921|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||1223|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>A|||||2450|,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/22|n.3618-522G>A||||||,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.2129G>A|||||| 22 50659033 . A G . . ANN=G|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.3755T>C|p.Leu1252Ser|3860/5612|3755/5460|1252/1819||,G|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.3755T>C|p.Leu1252Ser|4248/6053|3755/4482|1252/1493||,G|sequence_feature|LOW|TUBGCP6|ENSG00000128159|repeat:9|ENST00000248846|protein_coding|16/25|c.3755T>C||||||,G|sequence_feature|LOW|TUBGCP6|ENSG00000128159|region_of_interest:9_X_27_AA_tandem_repeats|ENST00000248846|protein_coding|16/25|c.3755T>C||||||,G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1T>C|||||188|,G|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068A>G|||||2988|,G|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626A>G|||||2988|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612T>C|||||1156|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733T>C|||||2383|,G|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/22|n.3618-589T>C||||||,G|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.2062T>C|||||| 22 50659056 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.3732C>T|p.His1244His|3837/5612|3732/5460|1244/1819||,A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.3732C>T|p.His1244His|4225/6053|3732/4482|1244/1493||,A|sequence_feature|LOW|TUBGCP6|ENSG00000128159|repeat:9|ENST00000248846|protein_coding|16/25|c.3732C>T||||||,A|sequence_feature|LOW|TUBGCP6|ENSG00000128159|region_of_interest:9_X_27_AA_tandem_repeats|ENST00000248846|protein_coding|16/25|c.3732C>T||||||,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1C>T|||||211|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>A|||||3011|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>A|||||3011|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||1133|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>T|||||2360|,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/22|n.3618-612C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.2039C>T|||||| 22 50659082 . G A . . ANN=A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.3706C>T|p.Arg1236Trp|3811/5612|3706/5460|1236/1819||,A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.3706C>T|p.Arg1236Trp|4199/6053|3706/4482|1236/1493||,A|sequence_feature|LOW|TUBGCP6|ENSG00000128159|region_of_interest:9_X_27_AA_tandem_repeats|ENST00000248846|protein_coding|16/25|c.3706C>T||||||,A|sequence_feature|LOW|TUBGCP6|ENSG00000128159|repeat:8|ENST00000248846|protein_coding|16/25|c.3706C>T||||||,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1C>T|||||237|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>A|||||3037|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>A|||||3037|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||1107|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>T|||||2334|,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/22|n.3617+622C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.2013C>T|||||| 22 50659094 . C T . . ANN=T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.3694G>A|p.Val1232Met|3799/5612|3694/5460|1232/1819||,T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.3694G>A|p.Val1232Met|4187/6053|3694/4482|1232/1493||,T|sequence_feature|LOW|TUBGCP6|ENSG00000128159|region_of_interest:9_X_27_AA_tandem_repeats|ENST00000248846|protein_coding|16/25|c.3694G>A||||||,T|sequence_feature|LOW|TUBGCP6|ENSG00000128159|repeat:8|ENST00000248846|protein_coding|16/25|c.3694G>A||||||,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1G>A|||||249|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>T|||||3049|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>T|||||3049|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||1095|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>A|||||2322|,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/22|n.3617+610G>A||||||,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.2001G>A|||||| 22 50659095 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.3693C>T|p.Asp1231Asp|3798/5612|3693/5460|1231/1819||,A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.3693C>T|p.Asp1231Asp|4186/6053|3693/4482|1231/1493||,A|sequence_feature|LOW|TUBGCP6|ENSG00000128159|region_of_interest:9_X_27_AA_tandem_repeats|ENST00000248846|protein_coding|16/25|c.3693C>T||||||,A|sequence_feature|LOW|TUBGCP6|ENSG00000128159|repeat:8|ENST00000248846|protein_coding|16/25|c.3693C>T||||||,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1C>T|||||250|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>A|||||3050|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>A|||||3050|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||1094|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>T|||||2321|,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/22|n.3617+609C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.2000C>T|||||| 22 50659275 . C T . . ANN=T|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.3513G>A|p.Leu1171Leu|3618/5612|3513/5460|1171/1819||,T|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.3513G>A|p.Leu1171Leu|4006/6053|3513/4482|1171/1493||,T|sequence_feature|LOW|TUBGCP6|ENSG00000128159|region_of_interest:9_X_27_AA_tandem_repeats|ENST00000248846|protein_coding|16/25|c.3513G>A||||||,T|sequence_feature|LOW|TUBGCP6|ENSG00000128159|repeat:6|ENST00000248846|protein_coding|16/25|c.3513G>A||||||,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1G>A|||||430|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>T|||||3230|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>T|||||3230|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||914|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>A|||||2141|,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/22|n.3617+429G>A||||||,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.1820G>A|||||| 22 50659292 . C T . . ANN=T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.3496G>A|p.Asp1166Asn|3601/5612|3496/5460|1166/1819||,T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.3496G>A|p.Asp1166Asn|3989/6053|3496/4482|1166/1493||,T|sequence_feature|LOW|TUBGCP6|ENSG00000128159|region_of_interest:9_X_27_AA_tandem_repeats|ENST00000248846|protein_coding|16/25|c.3496G>A||||||,T|sequence_feature|LOW|TUBGCP6|ENSG00000128159|repeat:6|ENST00000248846|protein_coding|16/25|c.3496G>A||||||,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1G>A|||||447|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>T|||||3247|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>T|||||3247|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||897|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>A|||||2124|,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/22|n.3617+412G>A||||||,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.1803G>A|||||| 22 50659298 . C T . . ANN=T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.3490G>A|p.Val1164Met|3595/5612|3490/5460|1164/1819||,T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.3490G>A|p.Val1164Met|3983/6053|3490/4482|1164/1493||,T|sequence_feature|LOW|TUBGCP6|ENSG00000128159|region_of_interest:9_X_27_AA_tandem_repeats|ENST00000248846|protein_coding|16/25|c.3490G>A||||||,T|sequence_feature|LOW|TUBGCP6|ENSG00000128159|repeat:6|ENST00000248846|protein_coding|16/25|c.3490G>A||||||,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1G>A|||||453|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>T|||||3253|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>T|||||3253|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||891|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>A|||||2118|,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/22|n.3617+406G>A||||||,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.1797G>A|||||| 22 50659329 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.3459C>T|p.Pro1153Pro|3564/5612|3459/5460|1153/1819||,A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.3459C>T|p.Pro1153Pro|3952/6053|3459/4482|1153/1493||,A|sequence_feature|LOW|TUBGCP6|ENSG00000128159|region_of_interest:9_X_27_AA_tandem_repeats|ENST00000248846|protein_coding|16/25|c.3459C>T||||||,A|sequence_feature|LOW|TUBGCP6|ENSG00000128159|repeat:5|ENST00000248846|protein_coding|16/25|c.3459C>T||||||,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1C>T|||||484|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>A|||||3284|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>A|||||3284|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||860|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>T|||||2087|,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/22|n.3617+375C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.1766C>T|||||| 22 50659341 . C T . . ANN=T|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.3447G>A|p.Ser1149Ser|3552/5612|3447/5460|1149/1819||,T|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.3447G>A|p.Ser1149Ser|3940/6053|3447/4482|1149/1493||,T|sequence_feature|LOW|TUBGCP6|ENSG00000128159|region_of_interest:9_X_27_AA_tandem_repeats|ENST00000248846|protein_coding|16/25|c.3447G>A||||||,T|sequence_feature|LOW|TUBGCP6|ENSG00000128159|repeat:5|ENST00000248846|protein_coding|16/25|c.3447G>A||||||,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1G>A|||||496|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>T|||||3296|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>T|||||3296|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||848|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>A|||||2075|,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/22|n.3617+363G>A||||||,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.1754G>A|||||| 22 50659347 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.3441C>T|p.Asn1147Asn|3546/5612|3441/5460|1147/1819||,A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.3441C>T|p.Asn1147Asn|3934/6053|3441/4482|1147/1493||,A|sequence_feature|LOW|TUBGCP6|ENSG00000128159|region_of_interest:9_X_27_AA_tandem_repeats|ENST00000248846|protein_coding|16/25|c.3441C>T||||||,A|sequence_feature|LOW|TUBGCP6|ENSG00000128159|repeat:5|ENST00000248846|protein_coding|16/25|c.3441C>T||||||,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1C>T|||||502|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>A|||||3302|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>A|||||3302|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||842|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>T|||||2069|,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/22|n.3617+357C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.1748C>T|||||| 22 50659380 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.3408C>T|p.His1136His|3513/5612|3408/5460|1136/1819||,A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.3408C>T|p.His1136His|3901/6053|3408/4482|1136/1493||,A|sequence_feature|LOW|TUBGCP6|ENSG00000128159|region_of_interest:9_X_27_AA_tandem_repeats|ENST00000248846|protein_coding|16/25|c.3408C>T||||||,A|sequence_feature|LOW|TUBGCP6|ENSG00000128159|repeat:5|ENST00000248846|protein_coding|16/25|c.3408C>T||||||,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1C>T|||||535|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>A|||||3335|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>A|||||3335|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||809|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>T|||||2036|,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/22|n.3617+324C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.1715C>T|||||| 22 50659386 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.3402C>T|p.His1134His|3507/5612|3402/5460|1134/1819||,A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.3402C>T|p.His1134His|3895/6053|3402/4482|1134/1493||,A|sequence_feature|LOW|TUBGCP6|ENSG00000128159|region_of_interest:9_X_27_AA_tandem_repeats|ENST00000248846|protein_coding|16/25|c.3402C>T||||||,A|sequence_feature|LOW|TUBGCP6|ENSG00000128159|repeat:4|ENST00000248846|protein_coding|16/25|c.3402C>T||||||,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1C>T|||||541|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>A|||||3341|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>A|||||3341|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||803|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>T|||||2030|,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/22|n.3617+318C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.1709C>T|||||| 22 50659452 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.3336C>T|p.Asn1112Asn|3441/5612|3336/5460|1112/1819||,A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.3336C>T|p.Asn1112Asn|3829/6053|3336/4482|1112/1493||,A|sequence_feature|LOW|TUBGCP6|ENSG00000128159|region_of_interest:9_X_27_AA_tandem_repeats|ENST00000248846|protein_coding|16/25|c.3336C>T||||||,A|sequence_feature|LOW|TUBGCP6|ENSG00000128159|repeat:4|ENST00000248846|protein_coding|16/25|c.3336C>T||||||,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1C>T|||||607|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>A|||||3407|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>A|||||3407|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||737|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>T|||||1964|,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/22|n.3617+252C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.1643C>T|||||| 22 50659481 . G A . . ANN=A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.3307C>T|p.Arg1103Trp|3412/5612|3307/5460|1103/1819||,A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.3307C>T|p.Arg1103Trp|3800/6053|3307/4482|1103/1493||,A|sequence_feature|LOW|TUBGCP6|ENSG00000128159|region_of_interest:9_X_27_AA_tandem_repeats|ENST00000248846|protein_coding|16/25|c.3307C>T||||||,A|sequence_feature|LOW|TUBGCP6|ENSG00000128159|repeat:3|ENST00000248846|protein_coding|16/25|c.3307C>T||||||,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1C>T|||||636|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>A|||||3436|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>A|||||3436|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||708|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>T|||||1935|,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/22|n.3617+223C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.1614C>T|||||| 22 50659548 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.3240C>T|p.His1080His|3345/5612|3240/5460|1080/1819||,A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.3240C>T|p.His1080His|3733/6053|3240/4482|1080/1493||,A|sequence_feature|LOW|TUBGCP6|ENSG00000128159|region_of_interest:9_X_27_AA_tandem_repeats|ENST00000248846|protein_coding|16/25|c.3240C>T||||||,A|sequence_feature|LOW|TUBGCP6|ENSG00000128159|repeat:2|ENST00000248846|protein_coding|16/25|c.3240C>T||||||,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1C>T|||||703|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>A|||||3503|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>A|||||3503|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||641|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>T|||||1868|,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/22|n.3617+156C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.1547C>T|||||| 22 50659595 . C T . . ANN=T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.3193G>A|p.Glu1065Lys|3298/5612|3193/5460|1065/1819||,T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.3193G>A|p.Glu1065Lys|3686/6053|3193/4482|1065/1493||,T|sequence_feature|LOW|TUBGCP6|ENSG00000128159|region_of_interest:9_X_27_AA_tandem_repeats|ENST00000248846|protein_coding|16/25|c.3193G>A||||||,T|sequence_feature|LOW|TUBGCP6|ENSG00000128159|repeat:2|ENST00000248846|protein_coding|16/25|c.3193G>A||||||,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1G>A|||||750|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>T|||||3550|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>T|||||3550|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||594|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>A|||||1821|,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/22|n.3617+109G>A||||||,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.1500G>A|||||| 22 50659598 . C T . . ANN=T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.3190G>A|p.Gly1064Arg|3295/5612|3190/5460|1064/1819||,T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.3190G>A|p.Gly1064Arg|3683/6053|3190/4482|1064/1493||,T|sequence_feature|LOW|TUBGCP6|ENSG00000128159|region_of_interest:9_X_27_AA_tandem_repeats|ENST00000248846|protein_coding|16/25|c.3190G>A||||||,T|sequence_feature|LOW|TUBGCP6|ENSG00000128159|repeat:2|ENST00000248846|protein_coding|16/25|c.3190G>A||||||,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1G>A|||||753|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>T|||||3553|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>T|||||3553|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||591|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>A|||||1818|,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/22|n.3617+106G>A||||||,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.1497G>A|||||| 22 50659599 . G C . . ANN=C|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.3189C>G|p.Val1063Val|3294/5612|3189/5460|1063/1819||,C|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.3189C>G|p.Val1063Val|3682/6053|3189/4482|1063/1493||,C|sequence_feature|LOW|TUBGCP6|ENSG00000128159|region_of_interest:9_X_27_AA_tandem_repeats|ENST00000248846|protein_coding|16/25|c.3189C>G||||||,C|sequence_feature|LOW|TUBGCP6|ENSG00000128159|repeat:2|ENST00000248846|protein_coding|16/25|c.3189C>G||||||,C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1C>G|||||754|,C|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>C|||||3554|,C|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>C|||||3554|,C|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>G|||||590|,C|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>G|||||1817|,C|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/22|n.3617+105C>G||||||,C|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.1496C>G|||||| 22 50659613 . C T . . ANN=T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.3175G>A|p.Ala1059Thr|3280/5612|3175/5460|1059/1819||,T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.3175G>A|p.Ala1059Thr|3668/6053|3175/4482|1059/1493||,T|sequence_feature|LOW|TUBGCP6|ENSG00000128159|region_of_interest:9_X_27_AA_tandem_repeats|ENST00000248846|protein_coding|16/25|c.3175G>A||||||,T|sequence_feature|LOW|TUBGCP6|ENSG00000128159|repeat:2|ENST00000248846|protein_coding|16/25|c.3175G>A||||||,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1G>A|||||768|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>T|||||3568|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>T|||||3568|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||576|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>A|||||1803|,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/22|n.3617+91G>A||||||,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.1482G>A|||||| 22 50659690 . C T . . ANN=T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.3098G>A|p.Gly1033Asp|3203/5612|3098/5460|1033/1819||,T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.3098G>A|p.Gly1033Asp|3591/6053|3098/4482|1033/1493||,T|sequence_feature|LOW|TUBGCP6|ENSG00000128159|region_of_interest:9_X_27_AA_tandem_repeats|ENST00000248846|protein_coding|16/25|c.3098G>A||||||,T|sequence_feature|LOW|TUBGCP6|ENSG00000128159|repeat:1|ENST00000248846|protein_coding|16/25|c.3098G>A||||||,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1G>A|||||845|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>T|||||3645|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>T|||||3645|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||499|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>A|||||1726|,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/22|n.3617+14G>A||||||,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.1405G>A|||||| 22 50659696 . C G . . ANN=G|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.3092G>C|p.Gly1031Ala|3197/5612|3092/5460|1031/1819||,G|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.3092G>C|p.Gly1031Ala|3585/6053|3092/4482|1031/1493||,G|splice_region_variant&intron_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/22|n.3617+8G>C||||||,G|sequence_feature|LOW|TUBGCP6|ENSG00000128159|region_of_interest:9_X_27_AA_tandem_repeats|ENST00000248846|protein_coding|16/25|c.3092G>C||||||,G|sequence_feature|LOW|TUBGCP6|ENSG00000128159|repeat:1|ENST00000248846|protein_coding|16/25|c.3092G>C||||||,G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1G>C|||||851|,G|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>G|||||3651|,G|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>G|||||3651|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>C|||||493|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>C|||||1720|,G|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.1399G>C|||||| 22 50659788 . C A . . ANN=A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.3000G>T|p.Arg1000Arg|3105/5612|3000/5460|1000/1819||,A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.3000G>T|p.Arg1000Arg|3493/6053|3000/4482|1000/1493||,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1G>T|||||943|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>A|||||3743|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>A|||||3743|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>T|||||401|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>T|||||1628|,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/23|n.3533G>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.1307G>T|||||| 22 50659796 . C T . . ANN=T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.2992G>A|p.Ala998Thr|3097/5612|2992/5460|998/1819||,T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.2992G>A|p.Ala998Thr|3485/6053|2992/4482|998/1493||,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1G>A|||||951|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>T|||||3751|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>T|||||3751|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||393|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>A|||||1620|,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/23|n.3525G>A||||||,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.1299G>A|||||| 22 50659797 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.2991C>T|p.Ser997Ser|3096/5612|2991/5460|997/1819||,A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.2991C>T|p.Ser997Ser|3484/6053|2991/4482|997/1493||,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1C>T|||||952|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>A|||||3752|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>A|||||3752|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||392|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>T|||||1619|,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/23|n.3524C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.1298C>T|||||| 22 50659874 . C G . . ANN=G|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.2914G>C|p.Ala972Pro|3019/5612|2914/5460|972/1819||,G|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.2914G>C|p.Ala972Pro|3407/6053|2914/4482|972/1493||,G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1G>C|||||1029|,G|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>G|||||3829|,G|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>G|||||3829|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>C|||||315|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>C|||||1542|,G|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/23|n.3447G>C||||||,G|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.1221G>C|||||| 22 50660043 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.2745C>T|p.Val915Val|2850/5612|2745/5460|915/1819||,A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.2745C>T|p.Val915Val|3238/6053|2745/4482|915/1493||,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1C>T|||||1198|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>A|||||3998|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>A|||||3998|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||146|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>T|||||1373|,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/23|n.3278C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.1052C>T|||||| 22 50660122 . G A . . ANN=A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.2666C>T|p.Pro889Leu|2771/5612|2666/5460|889/1819||,A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.2666C>T|p.Pro889Leu|3159/6053|2666/4482|889/1493||,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1C>T|||||1277|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>A|||||4077|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>A|||||4077|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||67|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>T|||||1294|,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/23|n.3199C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.973C>T|||||| 22 50660137 . G A . . ANN=A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.2651C>T|p.Ala884Val|2756/5612|2651/5460|884/1819||,A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.2651C>T|p.Ala884Val|3144/6053|2651/4482|884/1493||,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1C>T|||||1292|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>A|||||4092|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>A|||||4092|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||52|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>T|||||1279|,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/23|n.3184C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.958C>T|||||| 22 50660176 . G A . . ANN=A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.2612C>T|p.Pro871Leu|2717/5612|2612/5460|871/1819||,A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.2612C>T|p.Pro871Leu|3105/6053|2612/4482|871/1493||,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1C>T|||||1331|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>A|||||4131|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>A|||||4131|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||13|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>T|||||1240|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.*830C>T|||||4988|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/23|n.3145C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.919C>T|||||| 22 50660214 . C G . . ANN=G|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.2574G>C|p.Trp858Cys|2679/5612|2574/5460|858/1819||,G|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.2574G>C|p.Trp858Cys|3067/6053|2574/4482|858/1493||,G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1G>C|||||1369|,G|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>G|||||4169|,G|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>G|||||4169|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>C|||||1202|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.*830G>C|||||4950|WARNING_TRANSCRIPT_NO_START_CODON,G|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/23|n.3107G>C||||||,G|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.881G>C||||||,G|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript|6/6|n.587G>C|||||| 22 50660296 . G A . . ANN=A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.2492C>T|p.Ser831Phe|2597/5612|2492/5460|831/1819||,A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.2492C>T|p.Ser831Phe|2985/6053|2492/4482|831/1493||,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1C>T|||||1451|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>A|||||4251|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>A|||||4251|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>T|||||1120|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.*830C>T|||||4868|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/23|n.3025C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.799C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript|6/6|n.505C>T|||||| 22 50660298 . C G . . ANN=G|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.2490G>C|p.Thr830Thr|2595/5612|2490/5460|830/1819||,G|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.2490G>C|p.Thr830Thr|2983/6053|2490/4482|830/1493||,G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1G>C|||||1453|,G|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>G|||||4253|,G|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>G|||||4253|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>C|||||1118|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.*830G>C|||||4866|WARNING_TRANSCRIPT_NO_START_CODON,G|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/23|n.3023G>C||||||,G|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.797G>C||||||,G|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript|6/6|n.503G>C|||||| 22 50660301 . G C . . ANN=C|splice_region_variant&synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.2487C>G|p.Val829Val|2592/5612|2487/5460|829/1819||,C|splice_region_variant&non_coding_exon_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/23|n.3020C>G||||||,C|splice_region_variant&non_coding_exon_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.794C>G||||||,C|splice_region_variant&synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.2487C>G|p.Val829Val|2980/6053|2487/4482|829/1493||,C|splice_region_variant&non_coding_exon_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript|6/6|n.500C>G||||||,C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1C>G|||||1456|,C|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>C|||||4256|,C|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>C|||||4256|,C|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>G|||||1115|,C|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.*830C>G|||||4863|WARNING_TRANSCRIPT_NO_START_CODON 22 50660341 . G A . . ANN=A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1C>T|||||1496|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>A|||||4296|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>A|||||4296|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>T|||||1075|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.*830C>T|||||4823|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|15/24|c.2485-38C>T||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|15/22|n.3018-38C>T||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|7/15|n.792-38C>T||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|15/24|c.2485-38C>T||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript|5/5|n.498-38C>T|||||| 22 50660437 . G T . . ANN=T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1C>A|||||1592|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>T|||||4392|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>T|||||4392|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>A|||||979|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.*830C>A|||||4727|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|15/24|c.2484+20C>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|15/22|n.3017+20C>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|7/15|n.791+20C>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|15/24|c.2484+20C>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript|5/5|n.497+20C>A|||||| 22 50660498 . G A . . ANN=A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|15/25|c.2443C>T|p.Pro815Ser|2548/5612|2443/5460|815/1819||,A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|15/25|c.2443C>T|p.Pro815Ser|2936/6053|2443/4482|815/1493||,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1C>T|||||1653|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>A|||||4453|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>A|||||4453|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>T|||||918|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.*830C>T|||||4666|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|15/23|n.2976C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|7/16|n.750C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript|5/6|n.456C>T|||||| 22 50660581 . C A . . ANN=A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1G>T|||||1736|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>A|||||4536|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>A|||||4536|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>T|||||835|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.*830G>T|||||4583|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|14/24|c.2410-50G>T||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|14/22|n.2943-50G>T||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|6/15|n.717-50G>T||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|14/24|c.2410-50G>T||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript|4/5|n.423-50G>T|||||| 22 50660896 . T C . . ANN=C|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|14/25|c.2396A>G|p.Glu799Gly|2501/5612|2396/5460|799/1819||,C|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|14/25|c.2396A>G|p.Glu799Gly|2889/6053|2396/4482|799/1493||,C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1A>G|||||2051|,C|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068T>C|||||4851|,C|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626T>C|||||4851|,C|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733A>G|||||520|,C|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.*830A>G|||||4268|WARNING_TRANSCRIPT_NO_START_CODON,C|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|14/23|n.2929A>G||||||,C|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|6/16|n.703A>G||||||,C|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript|4/6|n.409A>G|||||| 22 50660972 . G A . . ANN=A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|14/25|c.2320C>T|p.Arg774Trp|2425/5612|2320/5460|774/1819||,A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|14/25|c.2320C>T|p.Arg774Trp|2813/6053|2320/4482|774/1493||,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1C>T|||||2127|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>A|||||4927|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>A|||||4927|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>T|||||444|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.*830C>T|||||4192|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|14/23|n.2853C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|6/16|n.627C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript|4/6|n.333C>T|||||| 22 50661058 . G A . . ANN=A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1C>T|||||2213|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>T|||||358|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.*830C>T|||||4106|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|13/24|c.2271-37C>T||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|13/22|n.2804-37C>T||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|5/15|n.578-37C>T||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|13/24|c.2271-37C>T||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript|3/5|n.288-41C>T|||||| 22 50662531 . C T . . ANN=T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1G>A|||||3686|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.*830G>A|||||2633|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|13/24|c.2270+39G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|13/22|n.2803+39G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|5/15|n.577+39G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|13/24|c.2270+39G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript|3/5|n.287+39G>A||||||,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript|5/5|n.618G>A|||||| 22 50662558 . G A . . ANN=A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1C>T|||||3713|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.*830C>T|||||2606|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|13/24|c.2270+12C>T||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|13/22|n.2803+12C>T||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|5/15|n.577+12C>T||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|13/24|c.2270+12C>T||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript|3/5|n.287+12C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript|5/5|n.591C>T|||||| 22 50662586 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|13/25|c.2254C>T|p.Leu752Leu|2359/5612|2254/5460|752/1819||,A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|13/25|c.2254C>T|p.Leu752Leu|2747/6053|2254/4482|752/1493||,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1C>T|||||3741|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.*830C>T|||||2578|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|13/23|n.2787C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|5/16|n.561C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript|3/6|n.271C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript|5/5|n.563C>T|||||| 22 50662705 . T C . . ANN=C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1A>G|||||3860|,C|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.*830A>G|||||2459|WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|12/24|c.2155-20A>G||||||,C|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|12/22|n.2688-20A>G||||||,C|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|4/15|n.462-20A>G||||||,C|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|12/24|c.2155-20A>G||||||,C|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript|2/5|n.172-20A>G||||||,C|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript|4/4|n.464-20A>G|||||| 22 50662731 . C T . . ANN=T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1G>A|||||3886|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.*830G>A|||||2433|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|12/24|c.2154+30G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|12/22|n.2687+30G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|4/15|n.461+30G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|12/24|c.2154+30G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript|2/5|n.171+30G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript|4/4|n.463+30G>A|||||| 22 50662860 . A G . . ANN=G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1T>C|||||4015|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.*830T>C|||||2304|WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|11/24|c.2066-11T>C||||||,G|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|11/22|n.2599-11T>C||||||,G|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|3/15|n.373-11T>C||||||,G|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|11/24|c.2066-11T>C||||||,G|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript|1/5|n.83-11T>C||||||,G|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript|3/4|n.375-11T>C|||||| 22 50662895 . C CA . . ANN=A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1dupT|||||4051|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.*830dupT|||||2268|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|11/24|c.2065+44dupT||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|11/22|n.2598+44dupT||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|3/15|n.372+44dupT||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|11/24|c.2065+44dupT||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript|1/5|n.82+44dupT||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript|3/4|n.374+44dupT|||||| 22 50662925 . C G . . ANN=G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1G>C|||||4080|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.*830G>C|||||2239|WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|11/24|c.2065+15G>C||||||,G|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|11/22|n.2598+15G>C||||||,G|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|3/15|n.372+15G>C||||||,G|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|11/24|c.2065+15G>C||||||,G|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript|1/5|n.82+15G>C||||||,G|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript|3/4|n.374+15G>C|||||| 22 50662984 . G A . . ANN=A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|11/25|c.2021C>T|p.Ala674Val|2126/5612|2021/5460|674/1819||,A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|11/25|c.2021C>T|p.Ala674Val|2514/6053|2021/4482|674/1493||,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1C>T|||||4139|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.*830C>T|||||2180|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|11/23|n.2554C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|3/16|n.328C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript|1/6|n.38C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript|3/5|n.330C>T|||||| 22 50662986 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|11/25|c.2019C>T|p.Ile673Ile|2124/5612|2019/5460|673/1819||,A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|11/25|c.2019C>T|p.Ile673Ile|2512/6053|2019/4482|673/1493||,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1C>T|||||4141|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.*830C>T|||||2178|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|11/23|n.2552C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|3/16|n.326C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript|1/6|n.36C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript|3/5|n.328C>T|||||| 22 50663060 . G C . . ANN=C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1C>G|||||4215|,C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.-1C>G|||||39|,C|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.*830C>G|||||2104|WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|10/24|c.1984-39C>G||||||,C|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|10/22|n.2517-39C>G||||||,C|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|2/15|n.291-39C>G||||||,C|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|10/24|c.1984-39C>G||||||,C|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript|2/4|n.293-39C>G|||||| 22 50664351 . C T . . ANN=T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|10/25|c.1855G>A|p.Val619Ile|1960/5612|1855/5460|619/1819||,T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|10/25|c.1855G>A|p.Val619Ile|2348/6053|1855/4482|619/1493||,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.-1G>A|||||1330|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.*830G>A|||||813|WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|10/23|n.2388G>A||||||,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|2/16|n.162G>A||||||,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript|2/5|n.164G>A|||||| 22 50664381 . G A . . ANN=A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.-1C>T|||||1360|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.*830C>T|||||783|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|9/24|c.1834-9C>T||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|9/22|n.2367-9C>T||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|1/15|n.141-9C>T||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|9/24|c.1834-9C>T||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript|1/4|n.143-9C>T|||||| 22 50664402 . A G . . ANN=G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.-1T>C|||||1381|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.*830T>C|||||762|WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|9/24|c.1834-30T>C||||||,G|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|9/22|n.2367-30T>C||||||,G|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|1/15|n.141-30T>C||||||,G|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|9/24|c.1834-30T>C||||||,G|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript|1/4|n.143-30T>C|||||| 22 50664448 . C T . . ANN=T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.-1G>A|||||1427|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.*830G>A|||||716|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|9/24|c.1833+31G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|9/22|n.2366+31G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|1/15|n.140+31G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|9/24|c.1833+31G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript|1/4|n.142+31G>A|||||| 22 50664462 . CAT C . . ANN=|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.-1_-1delAT|||||1442|,|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.*830_*830delAT|||||701|WARNING_TRANSCRIPT_NO_START_CODON,|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|9/24|c.1833+15_1833+16delAT||||||,|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|9/22|n.2366+15_2366+16delAT||||||,|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|1/15|n.140+15_140+16delAT||||||,|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|9/24|c.1833+15_1833+16delAT||||||,|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript|1/4|n.142+15_142+16delAT|||||| 22 50664611 . C T . . ANN=T|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|9/25|c.1701G>A|p.Leu567Leu|1806/5612|1701/5460|567/1819||,T|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|9/25|c.1701G>A|p.Leu567Leu|2194/6053|1701/4482|567/1493||,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.-1G>A|||||1590|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.*830G>A|||||553|WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|9/23|n.2234G>A||||||,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|1/16|n.8G>A||||||,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript|1/5|n.10G>A|||||| 22 50664612 . A G . . ANN=G|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|9/25|c.1700T>C|p.Leu567Ser|1805/5612|1700/5460|567/1819||,G|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|9/25|c.1700T>C|p.Leu567Ser|2193/6053|1700/4482|567/1493||,G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.-1T>C|||||1591|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.*830T>C|||||552|WARNING_TRANSCRIPT_NO_START_CODON,G|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|9/23|n.2233T>C||||||,G|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|1/16|n.7T>C||||||,G|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript|1/5|n.9T>C|||||| 22 50664640 . G A . . ANN=A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.-1C>T|||||22|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.-1C>T|||||1619|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.-1C>T|||||20|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.*830C>T|||||524|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|8/24|c.1694-22C>T||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|8/22|n.2227-22C>T||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|8/24|c.1694-22C>T|||||| 22 50664683 . C T . . ANN=T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.-1G>A|||||65|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.-1G>A|||||1662|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.-1G>A|||||63|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.*830G>A|||||481|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|8/24|c.1693+33G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|8/22|n.2226+33G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|8/24|c.1693+33G>A|||||| 22 50664684 . G A . . ANN=A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.-1C>T|||||66|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.-1C>T|||||1663|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.-1C>T|||||64|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.*830C>T|||||480|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|8/24|c.1693+32C>T||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|8/22|n.2226+32C>T||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|8/24|c.1693+32C>T|||||| 22 50664735 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|8/25|c.1674C>T|p.His558His|1779/5612|1674/5460|558/1819||,A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|8/25|c.1674C>T|p.His558His|2167/6053|1674/4482|558/1493||,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.-1C>T|||||117|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.-1C>T|||||1714|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.-1C>T|||||115|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.*830C>T|||||429|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|8/23|n.2207C>T|||||| 22 50664797 . C T . . ANN=T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|8/25|c.1612G>A|p.Asp538Asn|1717/5612|1612/5460|538/1819||,T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|8/25|c.1612G>A|p.Asp538Asn|2105/6053|1612/4482|538/1493||,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.-1G>A|||||179|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.-1G>A|||||1776|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.-1G>A|||||177|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.*830G>A|||||367|WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|8/23|n.2145G>A|||||| 22 50664798 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|8/25|c.1611C>T|p.His537His|1716/5612|1611/5460|537/1819||,A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|8/25|c.1611C>T|p.His537His|2104/6053|1611/4482|537/1493||,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.-1C>T|||||180|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.-1C>T|||||1777|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.-1C>T|||||178|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.*830C>T|||||366|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|8/23|n.2144C>T|||||| 22 50664801 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|8/25|c.1608C>T|p.Ile536Ile|1713/5612|1608/5460|536/1819||,A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|8/25|c.1608C>T|p.Ile536Ile|2101/6053|1608/4482|536/1493||,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.-1C>T|||||183|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.-1C>T|||||1780|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.-1C>T|||||181|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.*830C>T|||||363|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|8/23|n.2141C>T|||||| 22 50664818 . G A . . ANN=A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.-1C>T|||||200|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.-1C>T|||||1797|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.-1C>T|||||198|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.*830C>T|||||346|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|7/24|c.1602-11C>T||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|7/22|n.2135-11C>T||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|7/24|c.1602-11C>T|||||| 22 50665126 . T C . . ANN=C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.-1A>G|||||508|,C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.-1A>G|||||2105|,C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.-1A>G|||||506|,C|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.*830A>G|||||38|WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|7/24|c.1601+36A>G||||||,C|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|7/22|n.2134+36A>G||||||,C|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|7/24|c.1601+36A>G|||||| 22 50665129 . G A . . ANN=A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.-1C>T|||||511|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.-1C>T|||||2108|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.-1C>T|||||509|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.*830C>T|||||35|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|7/24|c.1601+33C>T||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|7/22|n.2134+33C>T||||||,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|7/24|c.1601+33C>T|||||| 22 50665137 . C T . . ANN=T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.-1G>A|||||519|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.-1G>A|||||2116|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.-1G>A|||||517|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.*830G>A|||||27|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|7/24|c.1601+25G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|7/22|n.2134+25G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|7/24|c.1601+25G>A|||||| 22 50665287 . G C . . ANN=C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.-1C>G|||||669|,C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.-1C>G|||||2266|,C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.-1C>G|||||667|,C|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|6/24|c.1492-16C>G||||||,C|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|6/22|n.2025-16C>G||||||,C|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|6/24|c.1492-16C>G||||||,C|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding|5/5|c.721-16C>G||||||WARNING_TRANSCRIPT_NO_START_CODON 22 50665306 . C T . . ANN=T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.-1G>A|||||688|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.-1G>A|||||2285|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.-1G>A|||||686|,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|6/24|c.1492-35G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|6/22|n.2025-35G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|6/24|c.1492-35G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding|5/5|c.721-35G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 50665446 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|6/25|c.1473C>T|p.Pro491Pro|1578/5612|1473/5460|491/1819||,A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|6/25|c.1473C>T|p.Pro491Pro|1966/6053|1473/4482|491/1493||,A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding|5/6|c.702C>T|p.Pro234Pro|704/830|702/828|234/275||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.-1C>T|||||828|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.-1C>T|||||2425|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.-1C>T|||||826|,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|6/23|n.2006C>T|||||| 22 50665476 . A G . . ANN=G|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|6/25|c.1443T>C|p.Ala481Ala|1548/5612|1443/5460|481/1819||,G|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|6/25|c.1443T>C|p.Ala481Ala|1936/6053|1443/4482|481/1493||,G|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding|5/6|c.672T>C|p.Ala224Ala|674/830|672/828|224/275||WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.-1T>C|||||858|,G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.-1T>C|||||2455|,G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.-1T>C|||||856|,G|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|6/23|n.1976T>C|||||| 22 50665513 . CCA C . . ANN=|splice_region_variant&intron_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|5/24|c.1413-9_1413-8delTG||||||,|splice_region_variant&intron_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|5/22|n.1946-9_1946-8delTG||||||,|splice_region_variant&intron_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|5/24|c.1413-9_1413-8delTG||||||,|splice_region_variant&intron_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding|4/5|c.642-9_642-8delTG||||||WARNING_TRANSCRIPT_NO_START_CODON,|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.-1_-1delTG|||||896|,|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.-1_-1delTG|||||2493|,|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.-1_-1delTG|||||894| 22 50665539 . C T . . ANN=T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.-1G>A|||||921|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.-1G>A|||||2518|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.-1G>A|||||919|,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|5/24|c.1413-33G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|5/22|n.1946-33G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|5/24|c.1413-33G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding|4/5|c.642-33G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 50666389 . G C . . ANN=C|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|5/25|c.1359C>G|p.Thr453Thr|1464/5612|1359/5460|453/1819||,C|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|5/25|c.1359C>G|p.Thr453Thr|1852/6053|1359/4482|453/1493||,C|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding|4/6|c.588C>G|p.Thr196Thr|590/830|588/828|196/275||WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.-1C>G|||||1771|,C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.-1C>G|||||3368|,C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.-1C>G|||||1769|,C|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|5/23|n.1892C>G|||||| 22 50666409 . C T . . ANN=T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|5/25|c.1339G>A|p.Val447Ile|1444/5612|1339/5460|447/1819||,T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|5/25|c.1339G>A|p.Val447Ile|1832/6053|1339/4482|447/1493||,T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding|4/6|c.568G>A|p.Val190Ile|570/830|568/828|190/275||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.-1G>A|||||1791|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.-1G>A|||||3388|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.-1G>A|||||1789|,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|5/23|n.1872G>A|||||| 22 50666485 . C T . . ANN=T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.-1G>A|||||1867|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.-1G>A|||||3464|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.-1G>A|||||1865|,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|4/24|c.1291-28G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|4/22|n.1824-28G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|4/24|c.1291-28G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding|3/5|c.520-28G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 50666507 . C T . . ANN=T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.-1G>A|||||1889|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.-1G>A|||||3486|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.-1G>A|||||1887|,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|4/24|c.1291-50G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|4/22|n.1824-50G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|4/24|c.1291-50G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding|3/5|c.520-50G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 50667795 . C T . . ANN=T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.-1G>A|||||3177|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.-1G>A|||||4774|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.-1G>A|||||3175|,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|4/24|c.1290+38G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|4/22|n.1823+38G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|4/24|c.1290+38G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding|3/5|c.519+38G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 50667807 . T C . . ANN=C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.-1A>G|||||3189|,C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.-1A>G|||||4786|,C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.-1A>G|||||3187|,C|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|4/24|c.1290+26A>G||||||,C|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|4/22|n.1823+26A>G||||||,C|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|4/24|c.1290+26A>G||||||,C|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding|3/5|c.519+26A>G||||||WARNING_TRANSCRIPT_NO_START_CODON 22 50667842 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|4/25|c.1281C>T|p.Leu427Leu|1386/5612|1281/5460|427/1819||,A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|4/25|c.1281C>T|p.Leu427Leu|1774/6053|1281/4482|427/1493||,A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding|3/6|c.510C>T|p.Leu170Leu|512/830|510/828|170/275||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.-1C>T|||||3224|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.-1C>T|||||4821|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.-1C>T|||||3222|,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|4/23|n.1814C>T|||||| 22 50667859 . A G . . ANN=G|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|4/25|c.1264T>C|p.Leu422Leu|1369/5612|1264/5460|422/1819||,G|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|4/25|c.1264T>C|p.Leu422Leu|1757/6053|1264/4482|422/1493||,G|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding|3/6|c.493T>C|p.Leu165Leu|495/830|493/828|165/275||WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.-1T>C|||||3241|,G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.-1T>C|||||4838|,G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.-1T>C|||||3239|,G|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|4/23|n.1797T>C|||||| 22 50667872 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|4/25|c.1251C>T|p.Pro417Pro|1356/5612|1251/5460|417/1819||,A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|4/25|c.1251C>T|p.Pro417Pro|1744/6053|1251/4482|417/1493||,A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding|3/6|c.480C>T|p.Pro160Pro|482/830|480/828|160/275||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.-1C>T|||||3254|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.-1C>T|||||4851|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.-1C>T|||||3252|,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|4/23|n.1784C>T|||||| 22 50667905 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|4/25|c.1218C>T|p.Cys406Cys|1323/5612|1218/5460|406/1819||,A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|4/25|c.1218C>T|p.Cys406Cys|1711/6053|1218/4482|406/1493||,A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding|3/6|c.447C>T|p.Cys149Cys|449/830|447/828|149/275||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.-1C>T|||||3287|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.-1C>T|||||4884|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.-1C>T|||||3285|,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|4/23|n.1751C>T|||||| 22 50667930 . G A . . ANN=A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|4/25|c.1193C>T|p.Ser398Leu|1298/5612|1193/5460|398/1819||,A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|4/25|c.1193C>T|p.Ser398Leu|1686/6053|1193/4482|398/1493||,A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding|3/6|c.422C>T|p.Ser141Leu|424/830|422/828|141/275||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.-1C>T|||||3312|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.-1C>T|||||4909|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.-1C>T|||||3310|,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|4/23|n.1726C>T|||||| 22 50668005 . G A . . ANN=A|missense_variant&splice_region_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|4/25|c.1118C>T|p.Pro373Leu|1223/5612|1118/5460|373/1819||,A|missense_variant&splice_region_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|4/25|c.1118C>T|p.Pro373Leu|1611/6053|1118/4482|373/1493||,A|missense_variant&splice_region_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding|3/6|c.347C>T|p.Pro116Leu|349/830|347/828|116/275||WARNING_TRANSCRIPT_NO_START_CODON,A|splice_region_variant&non_coding_exon_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|4/23|n.1651C>T||||||,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.-1C>T|||||3387|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.-1C>T|||||4984|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.-1C>T|||||3385| 22 50671835 . C T . . ANN=T|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|3/25|c.1026G>A|p.Pro342Pro|1131/5612|1026/5460|342/1819||,T|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|3/25|c.1026G>A|p.Pro342Pro|1519/6053|1026/4482|342/1493||,T|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding|2/6|c.255G>A|p.Pro85Pro|257/830|255/828|85/275||WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|3/23|n.1559G>A|||||| 22 50671849 . C T . . ANN=T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|3/25|c.1012G>A|p.Val338Ile|1117/5612|1012/5460|338/1819||,T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|3/25|c.1012G>A|p.Val338Ile|1505/6053|1012/4482|338/1493||,T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding|2/6|c.241G>A|p.Val81Ile|243/830|241/828|81/275||WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|3/23|n.1545G>A|||||| 22 50671889 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|3/25|c.972C>T|p.Cys324Cys|1077/5612|972/5460|324/1819||,A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|3/25|c.972C>T|p.Cys324Cys|1465/6053|972/4482|324/1493||,A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding|2/6|c.201C>T|p.Cys67Cys|203/830|201/828|67/275||WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|3/23|n.1505C>T|||||| 22 50671990 . C T . . ANN=T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|2/24|c.906-35G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|2/22|n.1439-35G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|2/24|c.906-35G>A||||||,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding|1/5|c.135-35G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 50678593 . G C . . ANN=C|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|2/24|c.905+40C>G||||||,C|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|2/22|n.1438+40C>G||||||,C|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|2/24|c.905+40C>G||||||,C|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding|1/5|c.134+61C>G||||||WARNING_TRANSCRIPT_NO_START_CODON 22 50678620 . G C . . ANN=C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.*2363C>G|||||4992|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.*520C>G|||||4992|,C|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|2/24|c.905+13C>G||||||,C|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|2/22|n.1438+13C>G||||||,C|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|2/24|c.905+13C>G||||||,C|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding|1/5|c.134+34C>G||||||WARNING_TRANSCRIPT_NO_START_CODON 22 50678630 . C CA . . ANN=A|splice_donor_variant&intron_variant|HIGH|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|2/24|c.905+2dupT||||||,A|splice_donor_variant&intron_variant|HIGH|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|2/22|n.1438+2dupT||||||,A|splice_donor_variant&intron_variant|HIGH|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|2/24|c.905+2dupT||||||,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.*2363dupT|||||4981|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.*520dupT|||||4981|,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding|1/5|c.134+23dupT||||||WARNING_TRANSCRIPT_NO_START_CODON;LOF=(TUBGCP6|ENSG00000128159|8|0.25) 22 50678643 . G A . . ANN=A|stop_gained|HIGH|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|2/25|c.895C>T|p.Arg299*|1000/5612|895/5460|299/1819||,A|stop_gained|HIGH|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|2/25|c.895C>T|p.Arg299*|1388/6053|895/4482|299/1493||,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.*2363C>T|||||4969|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.*520C>T|||||4969|,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding|1/5|c.134+11C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|2/23|n.1428C>T||||||;LOF=(TUBGCP6|ENSG00000128159|8|0.25);NMD=(TUBGCP6|ENSG00000128159|8|0.25) 22 50678700 . C G . . ANN=G|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|2/25|c.838G>C|p.Val280Leu|943/5612|838/5460|280/1819||,G|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|2/25|c.838G>C|p.Val280Leu|1331/6053|838/4482|280/1493||,G|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding|1/6|c.88G>C|p.Val30Leu|90/830|88/828|30/275||WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.*2363G>C|||||4912|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.*520G>C|||||4912|,G|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|2/23|n.1371G>C|||||| 22 50678701 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|2/25|c.837C>T|p.Asp279Asp|942/5612|837/5460|279/1819||,A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|2/25|c.837C>T|p.Asp279Asp|1330/6053|837/4482|279/1493||,A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding|1/6|c.87C>T|p.Asp29Asp|89/830|87/828|29/275||WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.*2363C>T|||||4911|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.*520C>T|||||4911|,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|2/23|n.1370C>T|||||| 22 50678739 . T A . . ANN=A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|2/25|c.799A>T|p.Thr267Ser|904/5612|799/5460|267/1819||,A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|2/25|c.799A>T|p.Thr267Ser|1292/6053|799/4482|267/1493||,A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding|1/6|c.49A>T|p.Thr17Ser|51/830|49/828|17/275||WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.*2363A>T|||||4873|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.*520A>T|||||4873|,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|2/23|n.1332A>T|||||| 22 50678830 . T C . . ANN=C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.-3A>G|||||41|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.*2363A>G|||||4782|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.*520A>G|||||4782|,C|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|1/24|c.742-34A>G||||||,C|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|1/22|n.1275-34A>G||||||,C|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|1/24|c.742-34A>G|||||| 22 50682161 . C A . . ANN=A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|1/25|c.728G>T|p.Gly243Val|833/5612|728/5460|243/1819||,A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|1/25|c.728G>T|p.Gly243Val|1221/6053|728/4482|243/1493||,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.-3G>T|||||3372|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.*2363G>T|||||1451|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.*520G>T|||||1451|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay||n.*338G>T|||||1673|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay||n.*1191G>T|||||1710|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding||c.*2068G>T|||||1710|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript||n.*2091G>T|||||1710|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript||n.*2153G>T|||||1710|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.*1784G>T|||||1718|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript||n.*6248G>T|||||1718|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding||c.*1950G>T|||||1775|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.*976G>T|||||2059|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.*885G>T|||||2247|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.*928G>T|||||2597|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239G>T|||||3406|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847G>T|||||3964|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034G>T|||||4176|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732G>T|||||4963|,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|1/23|n.1261G>T|||||| 22 50682208 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|1/25|c.681C>T|p.Asp227Asp|786/5612|681/5460|227/1819||,A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|1/25|c.681C>T|p.Asp227Asp|1174/6053|681/4482|227/1493||,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.-3C>T|||||3419|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.*2363C>T|||||1404|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.*520C>T|||||1404|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay||n.*338C>T|||||1626|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay||n.*1191C>T|||||1663|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding||c.*2068C>T|||||1663|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript||n.*2091C>T|||||1663|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript||n.*2153C>T|||||1663|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.*1784C>T|||||1671|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript||n.*6248C>T|||||1671|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding||c.*1950C>T|||||1728|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.*976C>T|||||2012|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.*885C>T|||||2200|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.*928C>T|||||2550|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239C>T|||||3359|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847C>T|||||3917|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034C>T|||||4129|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732C>T|||||4916|,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|1/23|n.1214C>T|||||| 22 50682215 . T C . . ANN=C|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|1/25|c.674A>G|p.Asp225Gly|779/5612|674/5460|225/1819||,C|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|1/25|c.674A>G|p.Asp225Gly|1167/6053|674/4482|225/1493||,C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.-3A>G|||||3426|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.*2363A>G|||||1397|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.*520A>G|||||1397|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay||n.*338A>G|||||1619|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay||n.*1191A>G|||||1656|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding||c.*2068A>G|||||1656|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript||n.*2091A>G|||||1656|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript||n.*2153A>G|||||1656|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.*1784A>G|||||1664|,C|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript||n.*6248A>G|||||1664|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding||c.*1950A>G|||||1721|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.*976A>G|||||2005|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.*885A>G|||||2193|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.*928A>G|||||2543|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239A>G|||||3352|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847A>G|||||3910|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034A>G|||||4122|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732A>G|||||4909|,C|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|1/23|n.1207A>G|||||| 22 50682234 . C A . . ANN=A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|1/25|c.655G>T|p.Val219Leu|760/5612|655/5460|219/1819||,A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|1/25|c.655G>T|p.Val219Leu|1148/6053|655/4482|219/1493||,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.-3G>T|||||3445|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.*2363G>T|||||1378|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.*520G>T|||||1378|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay||n.*338G>T|||||1600|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay||n.*1191G>T|||||1637|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding||c.*2068G>T|||||1637|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript||n.*2091G>T|||||1637|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript||n.*2153G>T|||||1637|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.*1784G>T|||||1645|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript||n.*6248G>T|||||1645|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding||c.*1950G>T|||||1702|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.*976G>T|||||1986|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.*885G>T|||||2174|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.*928G>T|||||2524|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239G>T|||||3333|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847G>T|||||3891|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034G>T|||||4103|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732G>T|||||4890|,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|1/23|n.1188G>T|||||| 22 50682300 . A G . . ANN=G|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|1/25|c.589T>C|p.Ser197Pro|694/5612|589/5460|197/1819||,G|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|1/25|c.589T>C|p.Ser197Pro|1082/6053|589/4482|197/1493||,G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.-3T>C|||||3511|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.*2363T>C|||||1312|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.*520T>C|||||1312|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay||n.*338T>C|||||1534|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay||n.*1191T>C|||||1571|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding||c.*2068T>C|||||1571|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript||n.*2091T>C|||||1571|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript||n.*2153T>C|||||1571|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.*1784T>C|||||1579|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript||n.*6248T>C|||||1579|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding||c.*1950T>C|||||1636|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.*976T>C|||||1920|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.*885T>C|||||2108|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.*928T>C|||||2458|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239T>C|||||3267|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847T>C|||||3825|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034T>C|||||4037|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732T>C|||||4824|,G|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|1/23|n.1122T>C|||||| 22 50682351 . G T . . ANN=T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|1/25|c.538C>A|p.Gln180Lys|643/5612|538/5460|180/1819||,T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|1/25|c.538C>A|p.Gln180Lys|1031/6053|538/4482|180/1493||,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.-3C>A|||||3562|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.*2363C>A|||||1261|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.*520C>A|||||1261|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay||n.*338C>A|||||1483|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay||n.*1191C>A|||||1520|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding||c.*2068C>A|||||1520|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript||n.*2091C>A|||||1520|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript||n.*2153C>A|||||1520|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.*1784C>A|||||1528|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript||n.*6248C>A|||||1528|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding||c.*1950C>A|||||1585|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.*976C>A|||||1869|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.*885C>A|||||2057|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.*928C>A|||||2407|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239C>A|||||3216|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847C>A|||||3774|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034C>A|||||3986|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732C>A|||||4773|,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|1/23|n.1071C>A|||||| 22 50682361 . C G . . ANN=G|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|1/25|c.528G>C|p.Gln176His|633/5612|528/5460|176/1819||,G|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|1/25|c.528G>C|p.Gln176His|1021/6053|528/4482|176/1493||,G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.-3G>C|||||3572|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.*2363G>C|||||1251|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.*520G>C|||||1251|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay||n.*338G>C|||||1473|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay||n.*1191G>C|||||1510|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding||c.*2068G>C|||||1510|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript||n.*2091G>C|||||1510|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript||n.*2153G>C|||||1510|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.*1784G>C|||||1518|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript||n.*6248G>C|||||1518|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding||c.*1950G>C|||||1575|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.*976G>C|||||1859|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.*885G>C|||||2047|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.*928G>C|||||2397|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239G>C|||||3206|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847G>C|||||3764|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034G>C|||||3976|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732G>C|||||4763|,G|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|1/23|n.1061G>C|||||| 22 50682446 . T C . . ANN=C|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|1/25|c.443A>G|p.Tyr148Cys|548/5612|443/5460|148/1819||,C|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|1/25|c.443A>G|p.Tyr148Cys|936/6053|443/4482|148/1493||,C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.-3A>G|||||3657|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.*2363A>G|||||1166|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.*520A>G|||||1166|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay||n.*338A>G|||||1388|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay||n.*1191A>G|||||1425|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding||c.*2068A>G|||||1425|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript||n.*2091A>G|||||1425|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript||n.*2153A>G|||||1425|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.*1784A>G|||||1433|,C|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript||n.*6248A>G|||||1433|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding||c.*1950A>G|||||1490|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.*976A>G|||||1774|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.*885A>G|||||1962|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.*928A>G|||||2312|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239A>G|||||3121|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847A>G|||||3679|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034A>G|||||3891|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732A>G|||||4678|,C|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|1/23|n.976A>G|||||| 22 50682578 . A G . . ANN=G|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|1/25|c.311T>C|p.Leu104Pro|416/5612|311/5460|104/1819||,G|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|1/25|c.311T>C|p.Leu104Pro|804/6053|311/4482|104/1493||,G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.-3T>C|||||3789|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.*2363T>C|||||1034|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.*520T>C|||||1034|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay||n.*338T>C|||||1256|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay||n.*1191T>C|||||1293|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding||c.*2068T>C|||||1293|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript||n.*2091T>C|||||1293|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript||n.*2153T>C|||||1293|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.*1784T>C|||||1301|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript||n.*6248T>C|||||1301|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding||c.*1950T>C|||||1358|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.*976T>C|||||1642|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.*885T>C|||||1830|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.*928T>C|||||2180|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239T>C|||||2989|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847T>C|||||3547|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034T>C|||||3759|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732T>C|||||4546|,G|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|1/23|n.844T>C|||||| 22 50682644 . A C . . ANN=C|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|1/25|c.245T>G|p.Leu82Arg|350/5612|245/5460|82/1819||,C|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|1/25|c.245T>G|p.Leu82Arg|738/6053|245/4482|82/1493||,C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.-3T>G|||||3855|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.*2363T>G|||||968|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.*520T>G|||||968|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay||n.*338T>G|||||1190|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay||n.*1191T>G|||||1227|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding||c.*2068T>G|||||1227|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript||n.*2091T>G|||||1227|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript||n.*2153T>G|||||1227|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.*1784T>G|||||1235|,C|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript||n.*6248T>G|||||1235|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding||c.*1950T>G|||||1292|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.*976T>G|||||1576|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.*885T>G|||||1764|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.*928T>G|||||2114|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239T>G|||||2923|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847T>G|||||3481|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034T>G|||||3693|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732T>G|||||4480|,C|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|1/23|n.778T>G|||||| 22 50682758 . G A . . ANN=A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|1/25|c.131C>T|p.Ala44Val|236/5612|131/5460|44/1819||,A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|1/25|c.131C>T|p.Ala44Val|624/6053|131/4482|44/1493||,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.-3C>T|||||3969|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.*2363C>T|||||854|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.*520C>T|||||854|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay||n.*338C>T|||||1076|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay||n.*1191C>T|||||1113|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding||c.*2068C>T|||||1113|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript||n.*2091C>T|||||1113|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript||n.*2153C>T|||||1113|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.*1784C>T|||||1121|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript||n.*6248C>T|||||1121|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding||c.*1950C>T|||||1178|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.*976C>T|||||1462|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.*885C>T|||||1650|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.*928C>T|||||2000|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239C>T|||||2809|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847C>T|||||3367|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034C>T|||||3579|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732C>T|||||4366|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715C>T|||||4958|,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|1/23|n.664C>T|||||| 22 50682771 . C T . . ANN=T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|1/25|c.118G>A|p.Val40Met|223/5612|118/5460|40/1819||,T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|1/25|c.118G>A|p.Val40Met|611/6053|118/4482|40/1493||,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.-3G>A|||||3982|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.*2363G>A|||||841|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.*520G>A|||||841|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay||n.*338G>A|||||1063|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay||n.*1191G>A|||||1100|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding||c.*2068G>A|||||1100|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript||n.*2091G>A|||||1100|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript||n.*2153G>A|||||1100|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.*1784G>A|||||1108|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript||n.*6248G>A|||||1108|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding||c.*1950G>A|||||1165|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.*976G>A|||||1449|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.*885G>A|||||1637|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.*928G>A|||||1987|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239G>A|||||2796|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847G>A|||||3354|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034G>A|||||3566|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732G>A|||||4353|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715G>A|||||4945|,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|1/23|n.651G>A|||||| 22 50682800 . C T . . ANN=T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|1/25|c.89G>A|p.Arg30Gln|194/5612|89/5460|30/1819||,T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|1/25|c.89G>A|p.Arg30Gln|582/6053|89/4482|30/1493||,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.-3G>A|||||4011|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.*2363G>A|||||812|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.*520G>A|||||812|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay||n.*338G>A|||||1034|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay||n.*1191G>A|||||1071|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding||c.*2068G>A|||||1071|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript||n.*2091G>A|||||1071|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript||n.*2153G>A|||||1071|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.*1784G>A|||||1079|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript||n.*6248G>A|||||1079|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding||c.*1950G>A|||||1136|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.*976G>A|||||1420|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.*885G>A|||||1608|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.*928G>A|||||1958|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239G>A|||||2767|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847G>A|||||3325|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034G>A|||||3537|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732G>A|||||4324|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715G>A|||||4916|,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|1/23|n.622G>A|||||| 22 50682847 . G T . . ANN=T|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|1/25|c.42C>A|p.Ala14Ala|147/5612|42/5460|14/1819||,T|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|1/25|c.42C>A|p.Ala14Ala|535/6053|42/4482|14/1493||,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.-3C>A|||||4058|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.*2363C>A|||||765|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.*520C>A|||||765|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay||n.*338C>A|||||987|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay||n.*1191C>A|||||1024|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding||c.*2068C>A|||||1024|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript||n.*2091C>A|||||1024|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript||n.*2153C>A|||||1024|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.*1784C>A|||||1032|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript||n.*6248C>A|||||1032|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding||c.*1950C>A|||||1089|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.*976C>A|||||1373|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.*885C>A|||||1561|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.*928C>A|||||1911|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239C>A|||||2720|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847C>A|||||3278|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034C>A|||||3490|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732C>A|||||4277|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715C>A|||||4869|,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|1/23|n.575C>A|||||| 22 50682865 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|1/25|c.24C>T|p.Phe8Phe|129/5612|24/5460|8/1819||,A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|1/25|c.24C>T|p.Phe8Phe|517/6053|24/4482|8/1493||,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.-3C>T|||||4076|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.*2363C>T|||||747|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.*520C>T|||||747|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay||n.*338C>T|||||969|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay||n.*1191C>T|||||1006|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding||c.*2068C>T|||||1006|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript||n.*2091C>T|||||1006|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript||n.*2153C>T|||||1006|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.*1784C>T|||||1014|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript||n.*6248C>T|||||1014|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding||c.*1950C>T|||||1071|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.*976C>T|||||1355|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.*885C>T|||||1543|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.*928C>T|||||1893|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239C>T|||||2702|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847C>T|||||3260|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034C>T|||||3472|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732C>T|||||4259|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715C>T|||||4851|,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|1/23|n.557C>T|||||| 22 50682879 . T C . . ANN=C|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|1/25|c.10A>G|p.Ile4Val|115/5612|10/5460|4/1819||,C|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|1/25|c.10A>G|p.Ile4Val|503/6053|10/4482|4/1493||,C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.-3A>G|||||4090|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.*2363A>G|||||733|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.*520A>G|||||733|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay||n.*338A>G|||||955|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay||n.*1191A>G|||||992|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding||c.*2068A>G|||||992|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript||n.*2091A>G|||||992|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript||n.*2153A>G|||||992|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.*1784A>G|||||1000|,C|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript||n.*6248A>G|||||1000|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding||c.*1950A>G|||||1057|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.*976A>G|||||1341|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.*885A>G|||||1529|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.*928A>G|||||1879|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239A>G|||||2688|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847A>G|||||3246|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034A>G|||||3458|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732A>G|||||4245|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715A>G|||||4837|,C|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|1/23|n.543A>G|||||| 22 50682913 . G A . . ANN=A|5_prime_UTR_premature_start_codon_gain_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|1/25|c.-25C>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|1/25|c.-25C>T||||||,A|5_prime_UTR_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|1/25|c.-25C>T|||||25|,A|5_prime_UTR_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|1/25|c.-25C>T|||||25|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.-3C>T|||||4124|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.*2363C>T|||||699|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.*520C>T|||||699|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay||n.*338C>T|||||921|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay||n.*1191C>T|||||958|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding||c.*2068C>T|||||958|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript||n.*2091C>T|||||958|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript||n.*2153C>T|||||958|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.*1784C>T|||||966|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript||n.*6248C>T|||||966|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding||c.*1950C>T|||||1023|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.*976C>T|||||1307|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.*885C>T|||||1495|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.*928C>T|||||1845|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239C>T|||||2654|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847C>T|||||3212|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034C>T|||||3424|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732C>T|||||4211|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715C>T|||||4803|,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|1/23|n.509C>T|||||| 22 50683935 . T A,C,G . . ANN=A|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|20/20|c.*1A>T|||||1|,C|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|20/20|c.*1A>G|||||1|,G|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|20/20|c.*1A>C|||||1|,A|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|18/18|n.*1532A>T|||||4558|,C|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|18/18|n.*1532A>G|||||4558|,G|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|18/18|n.*1532A>C|||||4558|,A|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|14/14|n.*1195A>T|||||4558|,C|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|14/14|n.*1195A>G|||||4558|,G|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|14/14|n.*1195A>C|||||4558|,A|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|16/16|n.*667A>T|||||1457|,C|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|16/16|n.*667A>G|||||1457|,G|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|16/16|n.*667A>C|||||1457|,A|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|18/18|c.*1A>T|||||1|,C|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|18/18|c.*1A>G|||||1|,G|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|18/18|c.*1A>C|||||1|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106A>T|||||942|,C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106A>G|||||942|,G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106A>C|||||942|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1A>T|||||514|,C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1A>G|||||514|,G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1A>C|||||514|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494A>T|||||554|,C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494A>G|||||554|,G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494A>C|||||554|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding||c.*1950A>T|||||1|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding||c.*1950A>G|||||1|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding||c.*1950A>C|||||1|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.*976A>T|||||285|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.*976A>G|||||285|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.*976A>C|||||285|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.*885A>T|||||473|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.*885A>G|||||473|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.*885A>C|||||473|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.*928A>T|||||823|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.*928A>G|||||823|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.*928A>C|||||823|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239A>T|||||1632|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239A>G|||||1632|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239A>C|||||1632|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847A>T|||||2190|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847A>G|||||2190|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847A>C|||||2190|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034A>T|||||2402|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034A>G|||||2402|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034A>C|||||2402|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732A>T|||||3189|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732A>G|||||3189|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732A>C|||||3189|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715A>T|||||3781|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715A>G|||||3781|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715A>C|||||3781|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759A>T|||||4353|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759A>G|||||4353|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759A>C|||||4353|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810A>T|||||4362|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810A>G|||||4362|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810A>C|||||4362|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578A>T|||||4613|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578A>G|||||4613|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578A>C|||||4613|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469A>T|||||4751|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469A>G|||||4751|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469A>C|||||4751|,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|18/18|n.*1532A>T||||||,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|18/18|n.*1532A>G||||||,G|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|18/18|n.*1532A>C||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|14/14|n.*1195A>T||||||,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|14/14|n.*1195A>G||||||,G|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|14/14|n.*1195A>C||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|16/16|n.*667A>T||||||,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|16/16|n.*667A>G||||||,G|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|16/16|n.*667A>C||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|19/19|n.2027A>T||||||,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|19/19|n.2027A>G||||||,G|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|19/19|n.2027A>C||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|19/19|n.2089A>T||||||,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|19/19|n.2089A>G||||||,G|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|19/19|n.2089A>C||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|10/10|n.1728A>T||||||,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|10/10|n.1728A>G||||||,G|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|10/10|n.1728A>C||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|26/26|n.6192A>T||||||,C|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|26/26|n.6192A>G||||||,G|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|26/26|n.6192A>C|||||| 22 50683973 . C G . . ANN=G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106G>C|||||980|,G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1G>C|||||552|,G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494G>C|||||592|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.*976G>C|||||247|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.*885G>C|||||435|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.*928G>C|||||785|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239G>C|||||1594|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847G>C|||||2152|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034G>C|||||2364|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732G>C|||||3151|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715G>C|||||3743|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759G>C|||||4315|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810G>C|||||4324|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578G>C|||||4575|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469G>C|||||4713|,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|19/19|c.1987-14G>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|17/17|n.*1508-14G>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|13/13|n.*1171-14G>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|15/15|n.*643-14G>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|17/17|c.1837-14G>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|18/18|n.2003-14G>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|18/18|n.2065-14G>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|9/9|n.1704-14G>C||||||,G|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|25/25|n.6168-14G>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|18/18|c.1927-14G>C|||||| 22 50683997 . C A . . ANN=A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106G>T|||||1004|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1G>T|||||576|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494G>T|||||616|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.*976G>T|||||223|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.*885G>T|||||411|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.*928G>T|||||761|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239G>T|||||1570|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847G>T|||||2128|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034G>T|||||2340|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732G>T|||||3127|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715G>T|||||3719|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759G>T|||||4291|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810G>T|||||4300|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578G>T|||||4551|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469G>T|||||4689|,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|19/19|c.1987-38G>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|17/17|n.*1508-38G>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|13/13|n.*1171-38G>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|15/15|n.*643-38G>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|17/17|c.1837-38G>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|18/18|n.2003-38G>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|18/18|n.2065-38G>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|9/9|n.1704-38G>T||||||,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|25/25|n.6168-38G>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|18/18|c.1927-38G>T|||||| 22 50684097 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|19/19|c.1986+7C>T||||||,A|splice_region_variant&intron_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|17/17|n.*1507+7C>T||||||,A|splice_region_variant&intron_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|13/13|n.*1170+7C>T||||||,A|splice_region_variant&intron_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|15/15|n.*642+7C>T||||||,A|splice_region_variant&intron_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|17/17|c.1836+7C>T||||||,A|splice_region_variant&intron_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|18/18|n.2002+7C>T||||||,A|splice_region_variant&intron_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|18/18|n.2064+7C>T||||||,A|splice_region_variant&intron_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|9/9|n.1703+7C>T||||||,A|splice_region_variant&intron_variant|LOW|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|25/25|n.6167+7C>T||||||,A|splice_region_variant&intron_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|18/18|c.1926+7C>T||||||,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106C>T|||||1104|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1C>T|||||676|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494C>T|||||716|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.*976C>T|||||123|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.*885C>T|||||311|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.*928C>T|||||661|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239C>T|||||1470|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847C>T|||||2028|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034C>T|||||2240|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732C>T|||||3027|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715C>T|||||3619|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759C>T|||||4191|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810C>T|||||4200|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578C>T|||||4451|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469C>T|||||4589| 22 50684256 . T C . . ANN=C|missense_variant&splice_region_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|19/20|c.1834A>G|p.Asn612Asp|2187/2687|1834/2010|612/669||,C|missense_variant&splice_region_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|17/18|c.1684A>G|p.Asn562Asp|1892/2133|1684/1860|562/619||,C|missense_variant&splice_region_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|18/19|c.1774A>G|p.Asn592Asp|1774/1950|1774/1950|592/649||,C|splice_region_variant&non_coding_exon_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|17/18|n.*1355A>G||||||,C|splice_region_variant&non_coding_exon_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|13/14|n.*1018A>G||||||,C|splice_region_variant&non_coding_exon_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|18/19|n.1850A>G||||||,C|splice_region_variant&non_coding_exon_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|18/19|n.1912A>G||||||,C|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|17/18|n.*1355A>G|||||4237|,C|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|13/14|n.*1018A>G|||||4237|,C|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|15/16|n.*490A>G|||||1136|,C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106A>G|||||1263|,C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1A>G|||||835|,C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494A>G|||||875|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.*885A>G|||||152|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.*928A>G|||||502|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239A>G|||||1311|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847A>G|||||1869|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034A>G|||||2081|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732A>G|||||2868|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715A>G|||||3460|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759A>G|||||4032|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810A>G|||||4041|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578A>G|||||4292|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469A>G|||||4430|,C|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|24/25|n.6105+83A>G||||||,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|15/16|n.*490A>G||||||,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|9/10|n.1551A>G||||||,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron|5/5|n.940A>G|||||| 22 50684296 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|15/16|n.*450A>G|||||1096|,C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106A>G|||||1303|,C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1A>G|||||875|,C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494A>G|||||915|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.*885A>G|||||112|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.*928A>G|||||462|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239A>G|||||1271|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847A>G|||||1829|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034A>G|||||2041|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732A>G|||||2828|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715A>G|||||3420|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759A>G|||||3992|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810A>G|||||4001|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578A>G|||||4252|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469A>G|||||4390|,C|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|18/19|c.1834-40A>G||||||,C|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|16/17|n.*1355-40A>G||||||,C|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|12/13|n.*1018-40A>G||||||,C|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|16/17|c.1684-40A>G||||||,C|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|17/18|n.1850-40A>G||||||,C|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|17/18|n.1912-40A>G||||||,C|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|24/25|n.6105+43A>G||||||,C|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|17/18|c.1774-40A>G||||||,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|15/16|n.*450A>G||||||,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|9/10|n.1511A>G||||||,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron|5/5|n.900A>G|||||| 22 50684312 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|15/16|n.*434C>T|||||1080|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106C>T|||||1319|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1C>T|||||891|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494C>T|||||931|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.*885C>T|||||96|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.*928C>T|||||446|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239C>T|||||1255|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847C>T|||||1813|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034C>T|||||2025|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732C>T|||||2812|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715C>T|||||3404|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759C>T|||||3976|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810C>T|||||3985|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578C>T|||||4236|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469C>T|||||4374|,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|18/19|c.1833+27C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|16/17|n.*1354+27C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|12/13|n.*1017+27C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|16/17|c.1683+27C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|17/18|n.1849+27C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|17/18|n.1911+27C>T||||||,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|24/25|n.6105+27C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|17/18|c.1773+27C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|15/16|n.*434C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|9/10|n.1495C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron|5/5|n.884C>T|||||| 22 50684374 . G T . . ANN=T|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|18/20|c.1798C>A|p.Leu600Met|2151/2687|1798/2010|600/669||,T|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|16/18|c.1648C>A|p.Leu550Met|1856/2133|1648/1860|550/619||,T|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|17/19|c.1738C>A|p.Leu580Met|1738/1950|1738/1950|580/649||,T|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|16/18|n.*1319C>A|||||4119|,T|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|12/14|n.*982C>A|||||4119|,T|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|15/16|n.*372C>A|||||1018|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106C>A|||||1381|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1C>A|||||953|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494C>A|||||993|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.*885C>A|||||34|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.*928C>A|||||384|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239C>A|||||1193|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847C>A|||||1751|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034C>A|||||1963|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732C>A|||||2750|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715C>A|||||3342|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759C>A|||||3914|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810C>A|||||3923|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578C>A|||||4174|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469C>A|||||4312|,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|16/18|n.*1319C>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|12/14|n.*982C>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|15/16|n.*372C>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|17/19|n.1814C>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|17/19|n.1876C>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|9/10|n.1433C>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|24/26|n.6070C>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron|5/5|n.822C>A|||||| 22 50684395 . G C . . ANN=C|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|18/20|c.1777C>G|p.Leu593Val|2130/2687|1777/2010|593/669||,C|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|16/18|c.1627C>G|p.Leu543Val|1835/2133|1627/1860|543/619||,C|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|17/19|c.1717C>G|p.Leu573Val|1717/1950|1717/1950|573/649||,C|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|16/18|n.*1298C>G|||||4098|,C|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|12/14|n.*961C>G|||||4098|,C|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|15/16|n.*351C>G|||||997|,C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106C>G|||||1402|,C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1C>G|||||974|,C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494C>G|||||1014|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.*885C>G|||||13|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.*928C>G|||||363|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239C>G|||||1172|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847C>G|||||1730|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034C>G|||||1942|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732C>G|||||2729|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715C>G|||||3321|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759C>G|||||3893|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810C>G|||||3902|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578C>G|||||4153|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469C>G|||||4291|,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|16/18|n.*1298C>G||||||,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|12/14|n.*961C>G||||||,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|15/16|n.*351C>G||||||,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|17/19|n.1793C>G||||||,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|17/19|n.1855C>G||||||,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|9/10|n.1412C>G||||||,C|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|24/26|n.6049C>G||||||,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron|5/5|n.801C>G|||||| 22 50684415 . T C . . ANN=C|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|18/20|c.1757A>G|p.Gln586Arg|2110/2687|1757/2010|586/669||,C|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|16/18|c.1607A>G|p.Gln536Arg|1815/2133|1607/1860|536/619||,C|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|17/19|c.1697A>G|p.Gln566Arg|1697/1950|1697/1950|566/649||,C|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|16/18|n.*1278A>G|||||4078|,C|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|12/14|n.*941A>G|||||4078|,C|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|15/16|n.*331A>G|||||977|,C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106A>G|||||1422|,C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1A>G|||||994|,C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494A>G|||||1034|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.*928A>G|||||343|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239A>G|||||1152|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847A>G|||||1710|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034A>G|||||1922|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732A>G|||||2709|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715A>G|||||3301|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759A>G|||||3873|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810A>G|||||3882|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578A>G|||||4133|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469A>G|||||4271|,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|16/18|n.*1278A>G||||||,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|12/14|n.*941A>G||||||,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|15/16|n.*331A>G||||||,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|17/19|n.1773A>G||||||,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|17/19|n.1835A>G||||||,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|9/10|n.1392A>G||||||,C|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|24/26|n.6029A>G||||||,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron|5/5|n.781A>G||||||,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron|5/5|n.878A>G|||||| 22 50684471 . G C . . ANN=C|synonymous_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|18/20|c.1701C>G|p.Ala567Ala|2054/2687|1701/2010|567/669||,C|synonymous_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|16/18|c.1551C>G|p.Ala517Ala|1759/2133|1551/1860|517/619||,C|synonymous_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|17/19|c.1641C>G|p.Ala547Ala|1641/1950|1641/1950|547/649||,C|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|16/18|n.*1222C>G|||||4022|,C|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|12/14|n.*885C>G|||||4022|,C|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|15/16|n.*275C>G|||||921|,C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106C>G|||||1478|,C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1C>G|||||1050|,C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494C>G|||||1090|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.*928C>G|||||287|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239C>G|||||1096|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847C>G|||||1654|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034C>G|||||1866|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732C>G|||||2653|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715C>G|||||3245|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759C>G|||||3817|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810C>G|||||3826|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578C>G|||||4077|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469C>G|||||4215|,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|16/18|n.*1222C>G||||||,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|12/14|n.*885C>G||||||,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|15/16|n.*275C>G||||||,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|17/19|n.1717C>G||||||,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|17/19|n.1779C>G||||||,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|9/10|n.1336C>G||||||,C|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|24/26|n.5973C>G||||||,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron|5/5|n.725C>G||||||,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron|5/5|n.822C>G|||||| 22 50684515 . C T . . ANN=T|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|18/20|c.1657G>A|p.Gly553Ser|2010/2687|1657/2010|553/669||,T|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|16/18|c.1507G>A|p.Gly503Ser|1715/2133|1507/1860|503/619||,T|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|17/19|c.1597G>A|p.Gly533Ser|1597/1950|1597/1950|533/649||,T|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|16/18|n.*1178G>A|||||3978|,T|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|12/14|n.*841G>A|||||3978|,T|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|15/16|n.*231G>A|||||877|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106G>A|||||1522|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1G>A|||||1094|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494G>A|||||1134|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.*928G>A|||||243|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239G>A|||||1052|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847G>A|||||1610|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034G>A|||||1822|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732G>A|||||2609|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715G>A|||||3201|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759G>A|||||3773|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810G>A|||||3782|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578G>A|||||4033|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469G>A|||||4171|,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|16/18|n.*1178G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|12/14|n.*841G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|15/16|n.*231G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|17/19|n.1673G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|17/19|n.1735G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|9/10|n.1292G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|24/26|n.5929G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron|5/5|n.681G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron|5/5|n.778G>A|||||| 22 50684561 . C G . . ANN=G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106G>C|||||1568|,G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1G>C|||||1140|,G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494G>C|||||1180|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.*928G>C|||||197|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239G>C|||||1006|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847G>C|||||1564|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034G>C|||||1776|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732G>C|||||2563|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715G>C|||||3155|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759G>C|||||3727|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810G>C|||||3736|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578G>C|||||3987|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469G>C|||||4125|,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|17/19|c.1651-40G>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|15/17|n.*1172-40G>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|11/13|n.*835-40G>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|14/15|n.*225-40G>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|15/17|c.1501-40G>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|16/18|n.1667-40G>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|16/18|n.1729-40G>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|8/9|n.1286-40G>C||||||,G|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|23/25|n.5923-40G>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|16/18|c.1591-40G>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron|4/4|n.675-40G>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron|4/4|n.772-40G>C|||||| 22 50684702 . C T . . ANN=T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106G>A|||||1709|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1G>A|||||1281|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494G>A|||||1321|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.*928G>A|||||56|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239G>A|||||865|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847G>A|||||1423|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034G>A|||||1635|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732G>A|||||2422|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715G>A|||||3014|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759G>A|||||3586|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810G>A|||||3595|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578G>A|||||3846|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469G>A|||||3984|,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|17/19|c.1650+25G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|15/17|n.*1171+25G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|11/13|n.*834+25G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|14/15|n.*224+25G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|15/17|c.1500+25G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|16/18|n.1666+25G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|16/18|n.1728+25G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|8/9|n.1285+25G>A||||||,T|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|23/25|n.5922+25G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|16/18|c.1590+25G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron|4/4|n.674+25G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron|4/4|n.771+25G>A|||||| 22 50684708 . G A . . ANN=A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106C>T|||||1715|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1C>T|||||1287|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494C>T|||||1327|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.*928C>T|||||50|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239C>T|||||859|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847C>T|||||1417|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034C>T|||||1629|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732C>T|||||2416|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715C>T|||||3008|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759C>T|||||3580|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810C>T|||||3589|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578C>T|||||3840|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469C>T|||||3978|,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|17/19|c.1650+19C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|15/17|n.*1171+19C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|11/13|n.*834+19C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|14/15|n.*224+19C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|15/17|c.1500+19C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|16/18|n.1666+19C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|16/18|n.1728+19C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|8/9|n.1285+19C>T||||||,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|23/25|n.5922+19C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|16/18|c.1590+19C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron|4/4|n.674+19C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron|4/4|n.771+19C>T|||||| 22 50684747 . C T . . ANN=T|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|17/20|c.1630G>A|p.Val544Ile|1983/2687|1630/2010|544/669||,T|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|15/18|c.1480G>A|p.Val494Ile|1688/2133|1480/1860|494/619||,T|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|16/19|c.1570G>A|p.Val524Ile|1570/1950|1570/1950|524/649||,T|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|15/18|n.*1151G>A|||||3746|,T|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|11/14|n.*814G>A|||||3746|,T|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|14/16|n.*204G>A|||||645|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106G>A|||||1754|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1G>A|||||1326|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494G>A|||||1366|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.*928G>A|||||11|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239G>A|||||820|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847G>A|||||1378|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034G>A|||||1590|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732G>A|||||2377|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715G>A|||||2969|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759G>A|||||3541|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810G>A|||||3550|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578G>A|||||3801|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469G>A|||||3939|,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|15/18|n.*1151G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|11/14|n.*814G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|14/16|n.*204G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|16/19|n.1646G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|16/19|n.1708G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|8/10|n.1265G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|23/26|n.5902G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron|4/5|n.654G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron|4/5|n.751G>A|||||| 22 50684822 . G C . . ANN=C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106C>G|||||1829|,C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1C>G|||||1401|,C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494C>G|||||1441|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239C>G|||||745|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847C>G|||||1303|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034C>G|||||1515|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732C>G|||||2302|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715C>G|||||2894|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759C>G|||||3466|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810C>G|||||3475|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578C>G|||||3726|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469C>G|||||3864|,C|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|16/19|c.1572-17C>G||||||,C|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|14/17|n.*1093-17C>G||||||,C|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|10/13|n.*756-17C>G||||||,C|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|13/15|n.*146-17C>G||||||,C|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|14/17|c.1422-17C>G||||||,C|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|15/18|n.1588-17C>G||||||,C|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|15/18|n.1650-17C>G||||||,C|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|7/9|n.1207-17C>G||||||,C|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|22/25|n.5844-17C>G||||||,C|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|15/18|c.1512-17C>G||||||,C|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron|3/4|n.693-17C>G||||||,C|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron|7/7|n.881-17C>G||||||,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron|4/5|n.579C>G|||||| 22 50684852 . G C . . ANN=C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106C>G|||||1859|,C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1C>G|||||1431|,C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494C>G|||||1471|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239C>G|||||715|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847C>G|||||1273|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034C>G|||||1485|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732C>G|||||2272|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715C>G|||||2864|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759C>G|||||3436|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810C>G|||||3445|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578C>G|||||3696|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469C>G|||||3834|,C|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|16/19|c.1572-47C>G||||||,C|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|14/17|n.*1093-47C>G||||||,C|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|10/13|n.*756-47C>G||||||,C|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|13/15|n.*146-47C>G||||||,C|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|14/17|c.1422-47C>G||||||,C|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|15/18|n.1588-47C>G||||||,C|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|15/18|n.1650-47C>G||||||,C|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|7/9|n.1207-47C>G||||||,C|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|22/25|n.5844-47C>G||||||,C|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|15/18|c.1512-47C>G||||||,C|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron|3/4|n.693-47C>G||||||,C|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron|7/7|n.881-47C>G||||||,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron|4/5|n.549C>G|||||| 22 50685063 . C T . . ANN=T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106G>A|||||2070|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1G>A|||||1642|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494G>A|||||1682|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239G>A|||||504|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847G>A|||||1062|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034G>A|||||1274|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732G>A|||||2061|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715G>A|||||2653|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759G>A|||||3225|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810G>A|||||3234|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578G>A|||||3485|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469G>A|||||3623|,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|16/19|c.1571+45G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|14/17|n.*1092+45G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|10/13|n.*755+45G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|13/15|n.*145+45G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|14/17|c.1421+45G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|15/18|n.1587+45G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|15/18|n.1649+45G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|7/9|n.1206+45G>A||||||,T|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|22/25|n.5843+45G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|15/18|c.1511+45G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron|3/4|n.692+45G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron|7/7|n.880+45G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron|4/5|n.338G>A|||||| 22 50685069 . C T . . ANN=T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106G>A|||||2076|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1G>A|||||1648|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494G>A|||||1688|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239G>A|||||498|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847G>A|||||1056|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034G>A|||||1268|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732G>A|||||2055|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715G>A|||||2647|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759G>A|||||3219|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810G>A|||||3228|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578G>A|||||3479|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469G>A|||||3617|,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|16/19|c.1571+39G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|14/17|n.*1092+39G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|10/13|n.*755+39G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|13/15|n.*145+39G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|14/17|c.1421+39G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|15/18|n.1587+39G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|15/18|n.1649+39G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|7/9|n.1206+39G>A||||||,T|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|22/25|n.5843+39G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|15/18|c.1511+39G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron|3/4|n.692+39G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron|7/7|n.880+39G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron|4/5|n.332G>A|||||| 22 50685086 . A G . . ANN=G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106T>C|||||2093|,G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1T>C|||||1665|,G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494T>C|||||1705|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239T>C|||||481|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847T>C|||||1039|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034T>C|||||1251|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732T>C|||||2038|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715T>C|||||2630|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759T>C|||||3202|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810T>C|||||3211|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578T>C|||||3462|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469T>C|||||3600|,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|16/19|c.1571+22T>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|14/17|n.*1092+22T>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|10/13|n.*755+22T>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|13/15|n.*145+22T>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|14/17|c.1421+22T>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|15/18|n.1587+22T>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|15/18|n.1649+22T>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|7/9|n.1206+22T>C||||||,G|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|22/25|n.5843+22T>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|15/18|c.1511+22T>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron|3/4|n.692+22T>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron|7/7|n.880+22T>C||||||,G|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron|4/5|n.315T>C|||||| 22 50685154 . C A . . ANN=A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|16/20|c.1525G>T|p.Val509Leu|1878/2687|1525/2010|509/669||,A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|14/18|c.1375G>T|p.Val459Leu|1583/2133|1375/1860|459/619||,A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|15/19|c.1465G>T|p.Val489Leu|1465/1950|1465/1950|489/649||,A|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|14/18|n.*1046G>T|||||3339|,A|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|10/14|n.*709G>T|||||3339|,A|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|13/16|n.*99G>T|||||238|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106G>T|||||2161|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1G>T|||||1733|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494G>T|||||1773|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239G>T|||||413|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847G>T|||||971|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034G>T|||||1183|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732G>T|||||1970|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715G>T|||||2562|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759G>T|||||3134|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810G>T|||||3143|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578G>T|||||3394|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469G>T|||||3532|,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|14/18|n.*1046G>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|10/14|n.*709G>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|13/16|n.*99G>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|15/19|n.1541G>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|15/19|n.1603G>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|7/10|n.1160G>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|22/26|n.5797G>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron|4/5|n.247G>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron|3/5|n.646G>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron|7/8|n.834G>T|||||| 22 50685290 . C T . . ANN=T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106G>A|||||2297|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1G>A|||||1869|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494G>A|||||1909|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239G>A|||||277|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847G>A|||||835|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034G>A|||||1047|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732G>A|||||1834|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715G>A|||||2426|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759G>A|||||2998|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810G>A|||||3007|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578G>A|||||3258|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469G>A|||||3396|,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|15/19|c.1514+14G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|13/17|n.*1035+14G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|9/13|n.*698+14G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|12/15|n.*88+14G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|13/17|c.1364+14G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|14/18|n.1530+14G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|14/18|n.1592+14G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|6/9|n.1149+14G>A||||||,T|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|21/25|n.5786+14G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|14/18|c.1454+14G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron|3/4|n.236+14G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron|6/7|n.823+14G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron|3/5|n.510G>A|||||| 22 50685310 . G A . . ANN=A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|15/20|c.1508C>T|p.Ala503Val|1861/2687|1508/2010|503/669||,A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|13/18|c.1358C>T|p.Ala453Val|1566/2133|1358/1860|453/619||,A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|14/19|c.1448C>T|p.Ala483Val|1448/1950|1448/1950|483/649||,A|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|13/18|n.*1029C>T|||||3183|,A|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|9/14|n.*692C>T|||||3183|,A|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|12/16|n.*82C>T|||||82|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106C>T|||||2317|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1C>T|||||1889|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494C>T|||||1929|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239C>T|||||257|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847C>T|||||815|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034C>T|||||1027|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732C>T|||||1814|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715C>T|||||2406|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759C>T|||||2978|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810C>T|||||2987|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578C>T|||||3238|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469C>T|||||3376|,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|13/18|n.*1029C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|9/14|n.*692C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|12/16|n.*82C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|14/19|n.1524C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|14/19|n.1586C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|6/10|n.1143C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|21/26|n.5780C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron|3/5|n.230C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron|3/5|n.490C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron|6/8|n.817C>T|||||| 22 50685332 . G A . . ANN=A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|15/20|c.1486C>T|p.Arg496Trp|1839/2687|1486/2010|496/669||,A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|13/18|c.1336C>T|p.Arg446Trp|1544/2133|1336/1860|446/619||,A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|14/19|c.1426C>T|p.Arg476Trp|1426/1950|1426/1950|476/649||,A|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|13/18|n.*1007C>T|||||3161|,A|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|9/14|n.*670C>T|||||3161|,A|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|12/16|n.*60C>T|||||60|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106C>T|||||2339|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1C>T|||||1911|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494C>T|||||1951|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239C>T|||||235|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847C>T|||||793|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034C>T|||||1005|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732C>T|||||1792|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715C>T|||||2384|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759C>T|||||2956|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810C>T|||||2965|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578C>T|||||3216|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469C>T|||||3354|,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|13/18|n.*1007C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|9/14|n.*670C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|12/16|n.*60C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|14/19|n.1502C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|14/19|n.1564C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|6/10|n.1121C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|21/26|n.5758C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron|3/5|n.208C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron|3/5|n.468C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron|6/8|n.795C>T|||||| 22 50685370 . G A . . ANN=A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|15/20|c.1448C>T|p.Pro483Leu|1801/2687|1448/2010|483/669||,A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|13/18|c.1298C>T|p.Pro433Leu|1506/2133|1298/1860|433/619||,A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|14/19|c.1388C>T|p.Pro463Leu|1388/1950|1388/1950|463/649||,A|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|13/18|n.*969C>T|||||3123|,A|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|9/14|n.*632C>T|||||3123|,A|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|12/16|n.*22C>T|||||22|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106C>T|||||2377|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1C>T|||||1949|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494C>T|||||1989|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239C>T|||||197|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847C>T|||||755|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034C>T|||||967|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732C>T|||||1754|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715C>T|||||2346|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759C>T|||||2918|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810C>T|||||2927|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578C>T|||||3178|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469C>T|||||3316|,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|13/18|n.*969C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|9/14|n.*632C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|12/16|n.*22C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|14/19|n.1464C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|14/19|n.1526C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|6/10|n.1083C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|21/26|n.5720C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron|3/5|n.170C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron|3/5|n.430C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron|6/8|n.757C>T|||||| 22 50685402 . G T . . ANN=T|splice_region_variant&intron_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|14/19|c.1423-7C>A||||||,T|splice_region_variant&intron_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|12/17|n.*944-7C>A||||||,T|splice_region_variant&intron_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|8/13|n.*607-7C>A||||||,T|splice_region_variant&intron_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|11/15|n.1188-7C>A||||||,T|splice_region_variant&intron_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|12/17|c.1273-7C>A||||||,T|splice_region_variant&intron_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|13/18|n.1439-7C>A||||||,T|splice_region_variant&intron_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|13/18|n.1501-7C>A||||||,T|splice_region_variant&intron_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|5/9|n.1058-7C>A||||||,T|splice_region_variant&intron_variant|LOW|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|20/25|n.5695-7C>A||||||,T|splice_region_variant&intron_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|13/18|c.1363-7C>A||||||,T|splice_region_variant&intron_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron|2/4|n.145-7C>A||||||,T|splice_region_variant&intron_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron|2/4|n.405-7C>A||||||,T|splice_region_variant&intron_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron|5/7|n.732-7C>A||||||,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106C>A|||||2409|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1C>A|||||1981|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494C>A|||||2021|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239C>A|||||165|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847C>A|||||723|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034C>A|||||935|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732C>A|||||1722|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715C>A|||||2314|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759C>A|||||2886|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810C>A|||||2895|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578C>A|||||3146|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469C>A|||||3284| 22 50686283 . C T . . ANN=T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106G>A|||||3290|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1G>A|||||2862|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494G>A|||||2902|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034G>A|||||54|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732G>A|||||841|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715G>A|||||1433|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759G>A|||||2005|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810G>A|||||2014|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578G>A|||||2265|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469G>A|||||2403|,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|13/19|c.1337+36G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|11/17|n.*858+36G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|8/13|n.*606+36G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|11/15|n.1187+36G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|11/17|c.1187+36G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|12/18|n.1353+36G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|12/18|n.1415+36G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|4/9|n.972+36G>A||||||,T|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|19/25|n.5609+36G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|12/18|c.1277+36G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron|1/4|n.59+36G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron|2/4|n.404+36G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron|5/7|n.731+36G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron|5/5|n.766+36G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron|2/2|n.523G>A|||||| 22 50686284 . G A . . ANN=A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106C>T|||||3291|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1C>T|||||2863|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494C>T|||||2903|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034C>T|||||53|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732C>T|||||840|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715C>T|||||1432|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759C>T|||||2004|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810C>T|||||2013|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578C>T|||||2264|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469C>T|||||2402|,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|13/19|c.1337+35C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|11/17|n.*858+35C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|8/13|n.*606+35C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|11/15|n.1187+35C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|11/17|c.1187+35C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|12/18|n.1353+35C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|12/18|n.1415+35C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|4/9|n.972+35C>T||||||,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|19/25|n.5609+35C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|12/18|c.1277+35C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron|1/4|n.59+35C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron|2/4|n.404+35C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron|5/7|n.731+35C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron|5/5|n.766+35C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron|2/2|n.522C>T|||||| 22 50686333 . T G . . ANN=G|synonymous_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|13/20|c.1323A>C|p.Thr441Thr|1676/2687|1323/2010|441/669||,G|synonymous_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|11/18|c.1173A>C|p.Thr391Thr|1381/2133|1173/1860|391/619||,G|synonymous_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|12/19|c.1263A>C|p.Thr421Thr|1263/1950|1263/1950|421/649||,G|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|11/18|n.*844A>C|||||2160|,G|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|8/14|n.*592A>C|||||2160|,G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106A>C|||||3340|,G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1A>C|||||2912|,G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494A>C|||||2952|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420A>C|||||4999|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034A>C|||||4|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732A>C|||||791|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715A>C|||||1383|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759A>C|||||1955|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810A>C|||||1964|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578A>C|||||2215|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469A>C|||||2353|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961A>C|||||4999|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785A>C|||||4999|,G|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|11/18|n.*844A>C||||||,G|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|8/14|n.*592A>C||||||,G|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|11/16|n.1173A>C||||||,G|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|12/19|n.1339A>C||||||,G|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|12/19|n.1401A>C||||||,G|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|4/10|n.958A>C||||||,G|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|19/26|n.5595A>C||||||,G|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron|1/5|n.45A>C||||||,G|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron|2/5|n.390A>C||||||,G|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron|5/8|n.717A>C||||||,G|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron|2/2|n.473A>C||||||,G|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron|5/6|n.752A>C|||||| 22 50686371 . C T . . ANN=T|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|13/20|c.1285G>A|p.Val429Ile|1638/2687|1285/2010|429/669||,T|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|11/18|c.1135G>A|p.Val379Ile|1343/2133|1135/1860|379/619||,T|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|12/19|c.1225G>A|p.Val409Ile|1225/1950|1225/1950|409/649||,T|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|11/18|n.*806G>A|||||2122|,T|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|8/14|n.*554G>A|||||2122|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106G>A|||||3378|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1G>A|||||2950|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494G>A|||||2990|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420G>A|||||4961|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732G>A|||||753|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715G>A|||||1345|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759G>A|||||1917|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810G>A|||||1926|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578G>A|||||2177|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469G>A|||||2315|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961G>A|||||4961|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785G>A|||||4961|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019G>A|||||4978|,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|11/18|n.*806G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|8/14|n.*554G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|11/16|n.1135G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|12/19|n.1301G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|12/19|n.1363G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|4/10|n.920G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|19/26|n.5557G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron|1/5|n.7G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron|2/5|n.352G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron|5/8|n.679G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron|2/2|n.435G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron|5/6|n.714G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron|3/3|n.1000G>A|||||| 22 50686399 . C T . . ANN=T|synonymous_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|13/20|c.1257G>A|p.Pro419Pro|1610/2687|1257/2010|419/669||,T|synonymous_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|11/18|c.1107G>A|p.Pro369Pro|1315/2133|1107/1860|369/619||,T|synonymous_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|12/19|c.1197G>A|p.Pro399Pro|1197/1950|1197/1950|399/649||,T|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|11/18|n.*778G>A|||||2094|,T|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|8/14|n.*526G>A|||||2094|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106G>A|||||3406|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1G>A|||||2978|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494G>A|||||3018|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1G>A|||||22|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420G>A|||||4933|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732G>A|||||725|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715G>A|||||1317|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759G>A|||||1889|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810G>A|||||1898|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578G>A|||||2149|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469G>A|||||2287|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961G>A|||||4933|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785G>A|||||4933|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019G>A|||||4950|,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|11/18|n.*778G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|8/14|n.*526G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|11/16|n.1107G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|12/19|n.1273G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|12/19|n.1335G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|4/10|n.892G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|19/26|n.5529G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron|2/5|n.324G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron|5/8|n.651G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron|2/2|n.407G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron|5/6|n.686G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron|3/3|n.972G>A|||||| 22 50686400 . G A . . ANN=A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|13/20|c.1256C>T|p.Pro419Leu|1609/2687|1256/2010|419/669||,A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|11/18|c.1106C>T|p.Pro369Leu|1314/2133|1106/1860|369/619||,A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|12/19|c.1196C>T|p.Pro399Leu|1196/1950|1196/1950|399/649||,A|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|11/18|n.*777C>T|||||2093|,A|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|8/14|n.*525C>T|||||2093|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106C>T|||||3407|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1C>T|||||2979|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494C>T|||||3019|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1C>T|||||23|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420C>T|||||4932|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732C>T|||||724|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715C>T|||||1316|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759C>T|||||1888|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810C>T|||||1897|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578C>T|||||2148|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469C>T|||||2286|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961C>T|||||4932|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785C>T|||||4932|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019C>T|||||4949|,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|11/18|n.*777C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|8/14|n.*525C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|11/16|n.1106C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|12/19|n.1272C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|12/19|n.1334C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|4/10|n.891C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|19/26|n.5528C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron|2/5|n.323C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron|5/8|n.650C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron|2/2|n.406C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron|5/6|n.685C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron|3/3|n.971C>T|||||| 22 50686403 . G A . . ANN=A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|13/20|c.1253C>T|p.Thr418Met|1606/2687|1253/2010|418/669||,A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|11/18|c.1103C>T|p.Thr368Met|1311/2133|1103/1860|368/619||,A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|12/19|c.1193C>T|p.Thr398Met|1193/1950|1193/1950|398/649||,A|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|11/18|n.*774C>T|||||2090|,A|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|8/14|n.*522C>T|||||2090|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106C>T|||||3410|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1C>T|||||2982|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494C>T|||||3022|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1C>T|||||26|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420C>T|||||4929|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732C>T|||||721|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715C>T|||||1313|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759C>T|||||1885|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810C>T|||||1894|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578C>T|||||2145|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469C>T|||||2283|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961C>T|||||4929|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785C>T|||||4929|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019C>T|||||4946|,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|11/18|n.*774C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|8/14|n.*522C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|11/16|n.1103C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|12/19|n.1269C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|12/19|n.1331C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|4/10|n.888C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|19/26|n.5525C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron|2/5|n.320C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron|5/8|n.647C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron|2/2|n.403C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron|5/6|n.682C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron|3/3|n.968C>T|||||| 22 50686424 . C A . . ANN=A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|13/20|c.1232G>T|p.Arg411Leu|1585/2687|1232/2010|411/669||,A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|11/18|c.1082G>T|p.Arg361Leu|1290/2133|1082/1860|361/619||,A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|12/19|c.1172G>T|p.Arg391Leu|1172/1950|1172/1950|391/649||,A|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|11/18|n.*753G>T|||||2069|,A|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|8/14|n.*501G>T|||||2069|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106G>T|||||3431|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1G>T|||||3003|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494G>T|||||3043|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1G>T|||||47|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420G>T|||||4908|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732G>T|||||700|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715G>T|||||1292|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759G>T|||||1864|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810G>T|||||1873|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578G>T|||||2124|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469G>T|||||2262|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961G>T|||||4908|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785G>T|||||4908|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019G>T|||||4925|,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|11/18|n.*753G>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|8/14|n.*501G>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|11/16|n.1082G>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|12/19|n.1248G>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|12/19|n.1310G>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|4/10|n.867G>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|19/26|n.5504G>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron|2/5|n.299G>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron|5/8|n.626G>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron|2/2|n.382G>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron|5/6|n.661G>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron|3/3|n.947G>T|||||| 22 50686473 . G A . . ANN=A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|13/20|c.1183C>T|p.Pro395Ser|1536/2687|1183/2010|395/669||,A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|11/18|c.1033C>T|p.Pro345Ser|1241/2133|1033/1860|345/619||,A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|12/19|c.1123C>T|p.Pro375Ser|1123/1950|1123/1950|375/649||,A|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|11/18|n.*704C>T|||||2020|,A|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|8/14|n.*452C>T|||||2020|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106C>T|||||3480|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1C>T|||||3052|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494C>T|||||3092|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1C>T|||||96|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420C>T|||||4859|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732C>T|||||651|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715C>T|||||1243|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759C>T|||||1815|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810C>T|||||1824|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578C>T|||||2075|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469C>T|||||2213|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961C>T|||||4859|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785C>T|||||4859|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019C>T|||||4876|,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|11/18|n.*704C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|8/14|n.*452C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|11/16|n.1033C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|12/19|n.1199C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|12/19|n.1261C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|4/10|n.818C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|19/26|n.5455C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron|2/5|n.250C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron|5/8|n.577C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron|2/2|n.333C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron|5/6|n.612C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron|3/3|n.898C>T|||||| 22 50686495 . C T . . ANN=T|synonymous_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|13/20|c.1161G>A|p.Val387Val|1514/2687|1161/2010|387/669||,T|synonymous_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|11/18|c.1011G>A|p.Val337Val|1219/2133|1011/1860|337/619||,T|synonymous_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|12/19|c.1101G>A|p.Val367Val|1101/1950|1101/1950|367/649||,T|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|11/18|n.*682G>A|||||1998|,T|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|8/14|n.*430G>A|||||1998|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106G>A|||||3502|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1G>A|||||3074|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494G>A|||||3114|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1G>A|||||118|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420G>A|||||4837|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732G>A|||||629|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715G>A|||||1221|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759G>A|||||1793|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810G>A|||||1802|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578G>A|||||2053|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469G>A|||||2191|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961G>A|||||4837|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785G>A|||||4837|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019G>A|||||4854|,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|11/18|n.*682G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|8/14|n.*430G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|11/16|n.1011G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|12/19|n.1177G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|12/19|n.1239G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|4/10|n.796G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|19/26|n.5433G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron|2/5|n.228G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron|5/8|n.555G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron|2/2|n.311G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron|5/6|n.590G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron|3/3|n.876G>A|||||| 22 50686501 . A T . . ANN=T|synonymous_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|13/20|c.1155T>A|p.Gly385Gly|1508/2687|1155/2010|385/669||,T|synonymous_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|11/18|c.1005T>A|p.Gly335Gly|1213/2133|1005/1860|335/619||,T|synonymous_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|12/19|c.1095T>A|p.Gly365Gly|1095/1950|1095/1950|365/649||,T|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|11/18|n.*676T>A|||||1992|,T|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|8/14|n.*424T>A|||||1992|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106T>A|||||3508|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1T>A|||||3080|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494T>A|||||3120|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1T>A|||||124|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420T>A|||||4831|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732T>A|||||623|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715T>A|||||1215|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759T>A|||||1787|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810T>A|||||1796|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578T>A|||||2047|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469T>A|||||2185|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961T>A|||||4831|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785T>A|||||4831|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019T>A|||||4848|,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|11/18|n.*676T>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|8/14|n.*424T>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|11/16|n.1005T>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|12/19|n.1171T>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|12/19|n.1233T>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|4/10|n.790T>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|19/26|n.5427T>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron|2/5|n.222T>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron|5/8|n.549T>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron|2/2|n.305T>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron|5/6|n.584T>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron|3/3|n.870T>A|||||| 22 50686558 . C A . . ANN=A|synonymous_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|13/20|c.1098G>T|p.Pro366Pro|1451/2687|1098/2010|366/669||,A|synonymous_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|11/18|c.948G>T|p.Pro316Pro|1156/2133|948/1860|316/619||,A|synonymous_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|12/19|c.1038G>T|p.Pro346Pro|1038/1950|1038/1950|346/649||,A|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|11/18|n.*619G>T|||||1935|,A|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|8/14|n.*367G>T|||||1935|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106G>T|||||3565|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1G>T|||||3137|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494G>T|||||3177|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1G>T|||||181|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420G>T|||||4774|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732G>T|||||566|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715G>T|||||1158|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759G>T|||||1730|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810G>T|||||1739|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578G>T|||||1990|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469G>T|||||2128|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961G>T|||||4774|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785G>T|||||4774|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019G>T|||||4791|,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|11/18|n.*619G>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|8/14|n.*367G>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|11/16|n.948G>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|12/19|n.1114G>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|12/19|n.1176G>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|4/10|n.733G>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|19/26|n.5370G>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron|2/5|n.165G>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron|5/8|n.492G>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron|2/2|n.248G>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron|5/6|n.527G>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron|3/3|n.813G>T|||||| 22 50686588 . G A . . ANN=A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106C>T|||||3595|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1C>T|||||3167|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494C>T|||||3207|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1C>T|||||211|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420C>T|||||4744|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732C>T|||||536|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715C>T|||||1128|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759C>T|||||1700|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810C>T|||||1709|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578C>T|||||1960|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469C>T|||||2098|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961C>T|||||4744|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785C>T|||||4744|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019C>T|||||4761|,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|12/19|c.1082-14C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|10/17|n.*603-14C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|7/13|n.*351-14C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|10/15|n.932-14C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|10/17|c.932-14C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|11/18|n.1098-14C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|11/18|n.1160-14C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|3/9|n.717-14C>T||||||,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|18/25|n.5354-14C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|11/18|c.1022-14C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron|1/4|n.149-14C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron|4/7|n.476-14C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron|1/1|n.232-14C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron|4/5|n.511-14C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron|3/3|n.783C>T|||||| 22 50686590 . A G . . ANN=G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106T>C|||||3597|,G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1T>C|||||3169|,G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494T>C|||||3209|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1T>C|||||213|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420T>C|||||4742|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732T>C|||||534|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715T>C|||||1126|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759T>C|||||1698|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810T>C|||||1707|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578T>C|||||1958|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469T>C|||||2096|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961T>C|||||4742|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785T>C|||||4742|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019T>C|||||4759|,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|12/19|c.1082-16T>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|10/17|n.*603-16T>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|7/13|n.*351-16T>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|10/15|n.932-16T>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|10/17|c.932-16T>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|11/18|n.1098-16T>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|11/18|n.1160-16T>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|3/9|n.717-16T>C||||||,G|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|18/25|n.5354-16T>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|11/18|c.1022-16T>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron|1/4|n.149-16T>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron|4/7|n.476-16T>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron|1/1|n.232-16T>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron|4/5|n.511-16T>C||||||,G|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron|3/3|n.781T>C|||||| 22 50686607 . A G . . ANN=G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106T>C|||||3614|,G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1T>C|||||3186|,G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494T>C|||||3226|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1T>C|||||230|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420T>C|||||4725|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732T>C|||||517|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715T>C|||||1109|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759T>C|||||1681|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810T>C|||||1690|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578T>C|||||1941|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469T>C|||||2079|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961T>C|||||4725|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785T>C|||||4725|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019T>C|||||4742|,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|12/19|c.1082-33T>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|10/17|n.*603-33T>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|7/13|n.*351-33T>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|10/15|n.932-33T>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|10/17|c.932-33T>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|11/18|n.1098-33T>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|11/18|n.1160-33T>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|3/9|n.717-33T>C||||||,G|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|18/25|n.5354-33T>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|11/18|c.1022-33T>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron|1/4|n.149-33T>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron|4/7|n.476-33T>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron|1/1|n.232-33T>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron|4/5|n.511-33T>C||||||,G|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron|3/3|n.764T>C|||||| 22 50686642 . G A . . ANN=A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106C>T|||||3649|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1C>T|||||3221|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494C>T|||||3261|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1C>T|||||265|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420C>T|||||4690|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732C>T|||||482|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715C>T|||||1074|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759C>T|||||1646|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810C>T|||||1655|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578C>T|||||1906|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469C>T|||||2044|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961C>T|||||4690|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785C>T|||||4690|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019C>T|||||4707|,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|12/19|c.1081+12C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|10/17|n.*602+12C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|7/13|n.*350+12C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|10/15|n.931+12C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|10/17|c.931+12C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|11/18|n.1097+12C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|11/18|n.1159+12C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|3/9|n.716+12C>T||||||,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|18/25|n.5353+12C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|11/18|c.1021+12C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron|1/4|n.148+12C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron|4/7|n.475+12C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron|1/1|n.231+12C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron|4/5|n.510+12C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron|3/3|n.729C>T|||||| 22 50686679 . C T . . ANN=T|synonymous_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|12/20|c.1056G>A|p.Pro352Pro|1409/2687|1056/2010|352/669||,T|synonymous_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|10/18|c.906G>A|p.Pro302Pro|1114/2133|906/1860|302/619||,T|synonymous_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|11/19|c.996G>A|p.Pro332Pro|996/1950|996/1950|332/649||,T|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|10/18|n.*577G>A|||||1814|,T|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|7/14|n.*325G>A|||||1814|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106G>A|||||3686|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1G>A|||||3258|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494G>A|||||3298|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1G>A|||||302|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420G>A|||||4653|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732G>A|||||445|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715G>A|||||1037|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759G>A|||||1609|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810G>A|||||1618|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578G>A|||||1869|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469G>A|||||2007|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961G>A|||||4653|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785G>A|||||4653|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019G>A|||||4670|,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|10/18|n.*577G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|7/14|n.*325G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|10/16|n.906G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|11/19|n.1072G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|11/19|n.1134G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|3/10|n.691G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|18/26|n.5328G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron|1/5|n.123G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron|4/8|n.450G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron|1/2|n.206G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron|4/6|n.485G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron|3/3|n.692G>A|||||| 22 50686737 . A G . . ANN=G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106T>C|||||3744|,G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1T>C|||||3316|,G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494T>C|||||3356|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1T>C|||||360|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420T>C|||||4595|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732T>C|||||387|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715T>C|||||979|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759T>C|||||1551|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810T>C|||||1560|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578T>C|||||1811|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469T>C|||||1949|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961T>C|||||4595|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785T>C|||||4595|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019T>C|||||4612|,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|11/19|c.1014-16T>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|9/17|n.*535-16T>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|6/13|n.*283-16T>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|9/15|n.864-16T>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|9/17|c.864-16T>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|10/18|n.1030-16T>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|10/18|n.1092-16T>C||||||,G|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|17/25|n.5286-16T>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|10/18|c.954-16T>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron|3/7|n.408-16T>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron|3/5|n.443-16T>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron|2/2|n.650-16T>C||||||,G|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|3/10|n.633T>C||||||,G|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron|1/5|n.65T>C||||||,G|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron|1/2|n.148T>C|||||| 22 50686767 . G C . . ANN=C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106C>G|||||3774|,C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1C>G|||||3346|,C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494C>G|||||3386|,C|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1C>G|||||390|,C|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420C>G|||||4565|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732C>G|||||357|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715C>G|||||949|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759C>G|||||1521|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810C>G|||||1530|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578C>G|||||1781|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469C>G|||||1919|,C|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961C>G|||||4565|,C|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785C>G|||||4565|,C|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019C>G|||||4582|,C|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|11/19|c.1013+28C>G||||||,C|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|9/17|n.*535-46C>G||||||,C|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|6/13|n.*282+28C>G||||||,C|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|9/15|n.863+28C>G||||||,C|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|9/17|c.863+28C>G||||||,C|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|10/18|n.1029+28C>G||||||,C|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|10/18|n.1091+28C>G||||||,C|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|17/25|n.5285+28C>G||||||,C|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|10/18|c.953+28C>G||||||,C|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron|3/7|n.407+28C>G||||||,C|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron|3/5|n.442+28C>G||||||,C|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron|2/2|n.649+28C>G||||||,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|3/10|n.603C>G||||||,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron|1/5|n.35C>G||||||,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron|1/2|n.118C>G|||||| 22 50686772 . G C . . ANN=C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106C>G|||||3779|,C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1C>G|||||3351|,C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494C>G|||||3391|,C|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1C>G|||||395|,C|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420C>G|||||4560|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732C>G|||||352|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715C>G|||||944|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759C>G|||||1516|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810C>G|||||1525|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578C>G|||||1776|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469C>G|||||1914|,C|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961C>G|||||4560|,C|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785C>G|||||4560|,C|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019C>G|||||4577|,C|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|11/19|c.1013+23C>G||||||,C|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|9/17|n.*535-51C>G||||||,C|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|6/13|n.*282+23C>G||||||,C|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|9/15|n.863+23C>G||||||,C|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|9/17|c.863+23C>G||||||,C|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|10/18|n.1029+23C>G||||||,C|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|10/18|n.1091+23C>G||||||,C|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|17/25|n.5285+23C>G||||||,C|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|10/18|c.953+23C>G||||||,C|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron|3/7|n.407+23C>G||||||,C|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron|3/5|n.442+23C>G||||||,C|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron|2/2|n.649+23C>G||||||,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|3/10|n.598C>G||||||,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron|1/5|n.30C>G||||||,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron|1/2|n.113C>G|||||| 22 50686775 . C T . . ANN=T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106G>A|||||3782|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1G>A|||||3354|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494G>A|||||3394|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1G>A|||||398|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420G>A|||||4557|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732G>A|||||349|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715G>A|||||941|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759G>A|||||1513|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810G>A|||||1522|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578G>A|||||1773|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469G>A|||||1911|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961G>A|||||4557|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785G>A|||||4557|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019G>A|||||4574|,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|11/19|c.1013+20G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|9/17|n.*535-54G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|6/13|n.*282+20G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|9/15|n.863+20G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|9/17|c.863+20G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|10/18|n.1029+20G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|10/18|n.1091+20G>A||||||,T|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|17/25|n.5285+20G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|10/18|c.953+20G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron|3/7|n.407+20G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron|3/5|n.442+20G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron|2/2|n.649+20G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|3/10|n.595G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron|1/5|n.27G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron|1/2|n.110G>A|||||| 22 50686807 . G A . . ANN=A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|11/20|c.1001C>T|p.Ala334Val|1354/2687|1001/2010|334/669||,A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|9/18|c.851C>T|p.Ala284Val|1059/2133|851/1860|284/619||,A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|10/19|c.941C>T|p.Ala314Val|941/1950|941/1950|314/649||,A|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|6/14|n.*270C>T|||||1686|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106C>T|||||3814|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1C>T|||||3386|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494C>T|||||3426|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1C>T|||||430|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.-1C>T|||||6|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420C>T|||||4525|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732C>T|||||317|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715C>T|||||909|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759C>T|||||1481|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810C>T|||||1490|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578C>T|||||1741|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469C>T|||||1879|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961C>T|||||4525|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785C>T|||||4525|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019C>T|||||4542|,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|9/17|n.*535-86C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|6/14|n.*270C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|9/16|n.851C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|10/19|n.1017C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|10/19|n.1079C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|3/10|n.563C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|17/26|n.5273C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron|3/8|n.395C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron|1/2|n.78C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron|3/6|n.430C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron|2/3|n.637C>T|||||| 22 50686821 . CAG C . . ANN=|frameshift_variant|HIGH|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|11/20|c.985_986delCT|p.Leu329fs|1339/2687|985/2010|329/669||,|frameshift_variant|HIGH|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|9/18|c.835_836delCT|p.Leu279fs|1044/2133|835/1860|279/619||,|frameshift_variant|HIGH|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|10/19|c.925_926delCT|p.Leu309fs|926/1950|925/1950|309/649||,|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|6/14|n.*254_*255delCT|||||1670|,|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106_-106delCT|||||3829|,|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1_-1delCT|||||3401|,|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494_-494delCT|||||3441|,|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1_-1delCT|||||445|,|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.-1_-1delCT|||||21|,|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420_*1420delCT|||||4510|,|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732_*732delCT|||||302|,|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715_*715delCT|||||894|,|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759_*759delCT|||||1466|,|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810_*810delCT|||||1475|,|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578_*578delCT|||||1726|,|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469_*469delCT|||||1864|,|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961_*961delCT|||||4510|,|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785_*1785delCT|||||4510|,|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019_*2019delCT|||||4527|,|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|9/17|n.*535-102_*535-101delCT||||||,|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|6/14|n.*254_*255delCT||||||,|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|9/16|n.835_836delCT||||||,|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|10/19|n.1001_1002delCT||||||,|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|10/19|n.1063_1064delCT||||||,|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|3/10|n.547_548delCT||||||,|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|17/26|n.5257_5258delCT||||||,|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron|3/8|n.379_380delCT||||||,|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron|1/2|n.62_63delCT||||||,|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron|3/6|n.414_415delCT||||||,|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron|2/3|n.621_622delCT||||||;LOF=(HDAC10|ENSG00000100429|21|0.14) 22 50686830 . G A . . ANN=A|synonymous_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|11/20|c.978C>T|p.Ala326Ala|1331/2687|978/2010|326/669||,A|synonymous_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|9/18|c.828C>T|p.Ala276Ala|1036/2133|828/1860|276/619||,A|synonymous_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|10/19|c.918C>T|p.Ala306Ala|918/1950|918/1950|306/649||,A|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|6/14|n.*247C>T|||||1663|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106C>T|||||3837|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1C>T|||||3409|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494C>T|||||3449|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1C>T|||||453|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.-1C>T|||||29|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420C>T|||||4502|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732C>T|||||294|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715C>T|||||886|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759C>T|||||1458|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810C>T|||||1467|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578C>T|||||1718|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469C>T|||||1856|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961C>T|||||4502|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785C>T|||||4502|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019C>T|||||4519|,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|9/17|n.*535-109C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|6/14|n.*247C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|9/16|n.828C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|10/19|n.994C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|10/19|n.1056C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|3/10|n.540C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|17/26|n.5250C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron|3/8|n.372C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron|1/2|n.55C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron|3/6|n.407C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron|2/3|n.614C>T|||||| 22 50686938 . A G . . ANN=G|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|10/20|c.907-37T>C||||||,G|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|9/20|c.907-37T>C||||||,G|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|7/20|c.907-37T>C||||||,G|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|2/20|c.907-37T>C||||||,G|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|6/20|c.907-37T>C||||||,G|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|3/20|c.907-37T>C||||||,G|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|1/20|c.907-37T>C||||||,G|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|4/20|c.907-37T>C||||||,G|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|11/20|c.907-37T>C||||||,G|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|5/20|c.907-37T>C||||||,G|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|8/20|c.907-37T>C||||||,G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106T>C|||||3945|,G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1T>C|||||3517|,G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494T>C|||||3557|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1T>C|||||561|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.-1T>C|||||137|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.-1T>C|||||54|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420T>C|||||4394|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732T>C|||||186|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715T>C|||||778|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759T>C|||||1350|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810T>C|||||1359|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578T>C|||||1610|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469T>C|||||1748|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961T>C|||||4394|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785T>C|||||4394|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019T>C|||||4411|,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|10/19|c.907-37T>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|9/17|n.*534+153T>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|5/13|n.*176-37T>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|8/15|n.757-37T>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|8/17|c.757-37T>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|9/18|n.923-37T>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|9/18|n.985-37T>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|2/9|n.469-37T>C||||||,G|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|16/25|n.5179-37T>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|9/18|c.847-37T>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron|2/7|n.301-37T>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron|2/5|n.336-37T>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron|1/2|n.543-37T>C|||||| 22 50687115 . G A . . ANN=A|synonymous_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|10/20|c.882C>T|p.Gly294Gly|1235/2687|882/2010|294/669||,A|synonymous_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|9/19|c.822C>T|p.Gly274Gly|822/1950|822/1950|274/649||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|10/20|c.882C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|9/20|c.882C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|7/20|c.882C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|2/20|c.882C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|6/20|c.882C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|3/20|c.882C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|1/20|c.882C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|4/20|c.882C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|11/20|c.882C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|5/20|c.882C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|8/20|c.882C>T||||||,A|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|9/18|n.*510C>T|||||1378|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106C>T|||||4122|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1C>T|||||3694|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494C>T|||||3734|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1C>T|||||738|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.-1C>T|||||314|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.-1C>T|||||231|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420C>T|||||4217|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732C>T|||||9|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715C>T|||||601|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759C>T|||||1173|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810C>T|||||1182|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578C>T|||||1433|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469C>T|||||1571|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961C>T|||||4217|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785C>T|||||4217|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019C>T|||||4234|,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|5/13|n.*176-214C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|8/15|n.757-214C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|8/17|c.757-214C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|9/18|n.*510C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|9/19|n.898C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|9/19|n.960C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|2/10|n.444C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|16/26|n.5154C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron|2/8|n.276C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron|2/6|n.311C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron|1/3|n.518C>T|||||| 22 50687117 . C T . . ANN=T|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|10/20|c.880G>A|p.Gly294Ser|1233/2687|880/2010|294/669||,T|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|9/19|c.820G>A|p.Gly274Ser|820/1950|820/1950|274/649||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|10/20|c.880G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|9/20|c.880G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|7/20|c.880G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|2/20|c.880G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|6/20|c.880G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|3/20|c.880G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|1/20|c.880G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|4/20|c.880G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|11/20|c.880G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|5/20|c.880G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|8/20|c.880G>A||||||,T|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|9/18|n.*508G>A|||||1376|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106G>A|||||4124|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1G>A|||||3696|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494G>A|||||3736|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1G>A|||||740|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.-1G>A|||||316|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.-1G>A|||||233|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420G>A|||||4215|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732G>A|||||7|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715G>A|||||599|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759G>A|||||1171|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810G>A|||||1180|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578G>A|||||1431|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469G>A|||||1569|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961G>A|||||4215|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785G>A|||||4215|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019G>A|||||4232|,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|5/13|n.*176-216G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|8/15|n.757-216G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|8/17|c.757-216G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|9/18|n.*508G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|9/19|n.896G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|9/19|n.958G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|2/10|n.442G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|16/26|n.5152G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron|2/8|n.274G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron|2/6|n.309G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron|1/3|n.516G>A|||||| 22 50687118 . G A . . ANN=A|synonymous_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|10/20|c.879C>T|p.Ala293Ala|1232/2687|879/2010|293/669||,A|synonymous_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|9/19|c.819C>T|p.Ala273Ala|819/1950|819/1950|273/649||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|10/20|c.879C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|9/20|c.879C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|7/20|c.879C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|2/20|c.879C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|6/20|c.879C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|3/20|c.879C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|1/20|c.879C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|4/20|c.879C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|11/20|c.879C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|5/20|c.879C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|8/20|c.879C>T||||||,A|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|9/18|n.*507C>T|||||1375|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106C>T|||||4125|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1C>T|||||3697|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494C>T|||||3737|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1C>T|||||741|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.-1C>T|||||317|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.-1C>T|||||234|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420C>T|||||4214|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732C>T|||||6|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715C>T|||||598|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759C>T|||||1170|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810C>T|||||1179|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578C>T|||||1430|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469C>T|||||1568|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961C>T|||||4214|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785C>T|||||4214|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019C>T|||||4231|,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|5/13|n.*176-217C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|8/15|n.757-217C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|8/17|c.757-217C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|9/18|n.*507C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|9/19|n.895C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|9/19|n.957C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|2/10|n.441C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|16/26|n.5151C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron|2/8|n.273C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron|2/6|n.308C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron|1/3|n.515C>T|||||| 22 50687178 . C T . . ANN=T|splice_region_variant&synonymous_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|10/20|c.819G>A|p.Gly273Gly|1172/2687|819/2010|273/669||,T|splice_region_variant&non_coding_exon_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|9/18|n.*447G>A||||||,T|splice_region_variant&non_coding_exon_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|9/19|n.835G>A||||||,T|splice_region_variant&non_coding_exon_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|9/19|n.897G>A||||||,T|splice_region_variant&non_coding_exon_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|2/10|n.381G>A||||||,T|splice_region_variant&non_coding_exon_variant|LOW|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|16/26|n.5091G>A||||||,T|splice_region_variant&synonymous_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|9/19|c.759G>A|p.Gly253Gly|759/1950|759/1950|253/649||,T|splice_region_variant&non_coding_exon_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron|2/8|n.213G>A||||||,T|splice_region_variant&non_coding_exon_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron|2/6|n.248G>A||||||,T|splice_region_variant&non_coding_exon_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript|8/8|n.678G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|10/20|c.819G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|9/20|c.819G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|7/20|c.819G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|2/20|c.819G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|6/20|c.819G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|3/20|c.819G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|1/20|c.819G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|4/20|c.819G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|11/20|c.819G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|5/20|c.819G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|8/20|c.819G>A||||||,T|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|9/18|n.*447G>A|||||1315|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106G>A|||||4185|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1G>A|||||3757|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494G>A|||||3797|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1G>A|||||801|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.-1G>A|||||377|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.-1G>A|||||294|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420G>A|||||4154|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715G>A|||||538|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759G>A|||||1110|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810G>A|||||1119|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578G>A|||||1370|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469G>A|||||1508|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961G>A|||||4154|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785G>A|||||4154|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019G>A|||||4171|,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|5/13|n.*176-277G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|8/15|n.757-277G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|8/17|c.757-277G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron|1/3|n.455G>A|||||| 22 50687294 . G A . . ANN=A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|9/20|c.782C>T|p.Ser261Leu|1135/2687|782/2010|261/669||,A|splice_region_variant&intron_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|7/18|n.804-6C>T||||||,A|splice_region_variant&intron_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|7/18|n.866-6C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|10/20|c.782C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|9/20|c.782C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|7/20|c.782C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|2/20|c.782C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|6/20|c.782C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|3/20|c.782C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|1/20|c.782C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|4/20|c.782C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|11/20|c.782C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|5/20|c.782C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|8/20|c.782C>T||||||,A|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|8/18|n.*410C>T|||||1199|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106C>T|||||4301|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1C>T|||||3873|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494C>T|||||3913|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1C>T|||||917|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.-1C>T|||||493|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.-1C>T|||||410|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420C>T|||||4038|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715C>T|||||422|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759C>T|||||994|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810C>T|||||1003|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578C>T|||||1254|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469C>T|||||1392|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961C>T|||||4038|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785C>T|||||4038|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019C>T|||||4055|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.*2760C>T|||||4919|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron||n.*2101C>T|||||4923|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.*2021C>T|||||4988|,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|5/13|n.*176-393C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|8/15|n.756+238C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|8/17|c.756+238C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|8/18|c.757-114C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|8/18|n.*410C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|1/10|n.344C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|15/26|n.5054C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron|1/8|n.176C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron|1/6|n.211C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron|1/3|n.339C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript|7/8|n.641C>T|||||| 22 50687302 . C T . . ANN=T|synonymous_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|9/20|c.774G>A|p.Val258Val|1127/2687|774/2010|258/669||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|10/20|c.774G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|9/20|c.774G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|7/20|c.774G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|2/20|c.774G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|6/20|c.774G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|3/20|c.774G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|1/20|c.774G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|4/20|c.774G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|11/20|c.774G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|5/20|c.774G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|8/20|c.774G>A||||||,T|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|8/18|n.*402G>A|||||1191|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106G>A|||||4309|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1G>A|||||3881|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494G>A|||||3921|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1G>A|||||925|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.-1G>A|||||501|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.-1G>A|||||418|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420G>A|||||4030|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715G>A|||||414|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759G>A|||||986|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810G>A|||||995|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578G>A|||||1246|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469G>A|||||1384|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961G>A|||||4030|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785G>A|||||4030|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019G>A|||||4047|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.*2760G>A|||||4911|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron||n.*2101G>A|||||4915|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.*2021G>A|||||4980|,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|5/13|n.*176-401G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|8/15|n.756+230G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|8/17|c.756+230G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|7/18|n.804-14G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|7/18|n.866-14G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|8/18|c.757-122G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|8/18|n.*402G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|1/10|n.336G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|15/26|n.5046G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron|1/8|n.168G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron|1/6|n.203G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron|1/3|n.331G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript|7/8|n.633G>A|||||| 22 50687328 . C A . . ANN=A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|10/20|c.757-9G>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|9/20|c.757-9G>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|7/20|c.757-9G>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|2/20|c.757-9G>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|6/20|c.757-9G>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|3/20|c.757-9G>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|1/20|c.757-9G>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|4/20|c.757-9G>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|11/20|c.757-9G>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|5/20|c.757-9G>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|8/20|c.757-9G>T||||||,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106G>T|||||4335|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1G>T|||||3907|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494G>T|||||3947|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1G>T|||||951|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.-1G>T|||||527|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.-1G>T|||||444|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420G>T|||||4004|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715G>T|||||388|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759G>T|||||960|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810G>T|||||969|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578G>T|||||1220|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469G>T|||||1358|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961G>T|||||4004|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785G>T|||||4004|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019G>T|||||4021|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.*2760G>T|||||4885|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron||n.*2101G>T|||||4889|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.*2021G>T|||||4954|,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|8/19|c.757-9G>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|7/17|n.*385-9G>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|5/13|n.*176-427G>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|8/15|n.756+204G>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|8/17|c.756+204G>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|7/18|n.804-40G>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|7/18|n.866-40G>T||||||,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|14/25|n.5029-9G>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|8/18|c.757-148G>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript|6/7|n.616-9G>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|1/10|n.310G>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron|1/8|n.142G>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron|1/6|n.177G>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron|1/3|n.305G>T|||||| 22 50687334 . G A . . ANN=A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|10/20|c.757-15C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|9/20|c.757-15C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|7/20|c.757-15C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|2/20|c.757-15C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|6/20|c.757-15C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|3/20|c.757-15C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|1/20|c.757-15C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|4/20|c.757-15C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|11/20|c.757-15C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|5/20|c.757-15C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|8/20|c.757-15C>T||||||,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106C>T|||||4341|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1C>T|||||3913|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494C>T|||||3953|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1C>T|||||957|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.-1C>T|||||533|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.-1C>T|||||450|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420C>T|||||3998|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715C>T|||||382|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759C>T|||||954|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810C>T|||||963|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578C>T|||||1214|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469C>T|||||1352|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961C>T|||||3998|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785C>T|||||3998|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019C>T|||||4015|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.*2760C>T|||||4879|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron||n.*2101C>T|||||4883|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.*2021C>T|||||4948|,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|8/19|c.757-15C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|7/17|n.*385-15C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|5/13|n.*176-433C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|8/15|n.756+198C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|8/17|c.756+198C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|7/18|n.804-46C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|7/18|n.866-46C>T||||||,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|14/25|n.5029-15C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|8/18|c.757-154C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript|6/7|n.616-15C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|1/10|n.304C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron|1/8|n.136C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron|1/6|n.171C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron|1/3|n.299C>T|||||| 22 50687351 . CAG C . . ANN=|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|10/20|c.757-34_757-33delCT||||||,|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|9/20|c.757-34_757-33delCT||||||,|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|7/20|c.757-34_757-33delCT||||||,|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|2/20|c.757-34_757-33delCT||||||,|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|6/20|c.757-34_757-33delCT||||||,|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|3/20|c.757-34_757-33delCT||||||,|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|1/20|c.757-34_757-33delCT||||||,|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|4/20|c.757-34_757-33delCT||||||,|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|11/20|c.757-34_757-33delCT||||||,|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|5/20|c.757-34_757-33delCT||||||,|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|8/20|c.757-34_757-33delCT||||||,|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106_-106delCT|||||4359|,|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1_-1delCT|||||3931|,|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494_-494delCT|||||3971|,|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1_-1delCT|||||975|,|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.-1_-1delCT|||||551|,|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.-1_-1delCT|||||468|,|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420_*1420delCT|||||3980|,|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715_*715delCT|||||364|,|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759_*759delCT|||||936|,|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810_*810delCT|||||945|,|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578_*578delCT|||||1196|,|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469_*469delCT|||||1334|,|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961_*961delCT|||||3980|,|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785_*1785delCT|||||3980|,|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019_*2019delCT|||||3997|,|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.*2760_*2760delCT|||||4861|,|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron||n.*2101_*2101delCT|||||4865|,|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.*2021_*2021delCT|||||4930|,|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|8/19|c.757-34_757-33delCT||||||,|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|7/17|n.*385-34_*385-33delCT||||||,|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|5/13|n.*176-452_*176-451delCT||||||,|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|8/15|n.756+179_756+180delCT||||||,|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|8/17|c.756+179_756+180delCT||||||,|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|7/18|n.804-65_804-64delCT||||||,|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|7/18|n.866-65_866-64delCT||||||,|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|14/25|n.5029-34_5029-33delCT||||||,|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|8/18|c.757-173_757-172delCT||||||,|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript|6/7|n.616-34_616-33delCT||||||,|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|1/10|n.285_286delCT||||||,|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron|1/8|n.117_118delCT||||||,|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron|1/6|n.152_153delCT||||||,|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron|1/3|n.280_281delCT|||||| 22 50687487 . C A . . ANN=A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|10/20|c.756+45G>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|9/20|c.756+45G>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|7/20|c.756+45G>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|2/20|c.756+45G>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|6/20|c.756+45G>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|3/20|c.756+45G>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|1/20|c.756+45G>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|4/20|c.756+45G>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|11/20|c.756+45G>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|5/20|c.756+45G>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|8/20|c.756+45G>T||||||,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106G>T|||||4494|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1G>T|||||4066|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494G>T|||||4106|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1G>T|||||1110|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.-1G>T|||||686|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.-1G>T|||||18|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.-1G>T|||||603|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420G>T|||||3845|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715G>T|||||229|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759G>T|||||801|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810G>T|||||810|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578G>T|||||1061|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469G>T|||||1199|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961G>T|||||3845|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785G>T|||||3845|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019G>T|||||3862|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.*2760G>T|||||4726|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron||n.*2101G>T|||||4730|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.*2021G>T|||||4795|,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|8/19|c.756+45G>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|7/17|n.*384+45G>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|5/13|n.*175+577G>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|8/15|n.756+45G>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|8/17|c.756+45G>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|7/18|n.803+45G>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|7/18|n.865+45G>T||||||,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|14/25|n.5028+45G>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|8/18|c.756+45G>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript|6/7|n.615+45G>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|1/10|n.151G>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron|1/6|n.18G>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron|1/3|n.146G>T|||||| 22 50687521 . C T . . ANN=T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|10/20|c.756+11G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|9/20|c.756+11G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|7/20|c.756+11G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|2/20|c.756+11G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|6/20|c.756+11G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|3/20|c.756+11G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|1/20|c.756+11G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|4/20|c.756+11G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|11/20|c.756+11G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|5/20|c.756+11G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|8/20|c.756+11G>A||||||,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106G>A|||||4528|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1G>A|||||4100|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494G>A|||||4140|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1G>A|||||1144|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.-1G>A|||||720|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.-1G>A|||||52|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.-1G>A|||||637|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.-1G>A|||||17|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420G>A|||||3811|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715G>A|||||195|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759G>A|||||767|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810G>A|||||776|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578G>A|||||1027|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469G>A|||||1165|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961G>A|||||3811|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785G>A|||||3811|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019G>A|||||3828|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.*2760G>A|||||4692|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron||n.*2101G>A|||||4696|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.*2021G>A|||||4761|,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|8/19|c.756+11G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|7/17|n.*384+11G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|5/13|n.*175+543G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|8/15|n.756+11G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|8/17|c.756+11G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|7/18|n.803+11G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|7/18|n.865+11G>A||||||,T|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|14/25|n.5028+11G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|8/18|c.756+11G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript|6/7|n.615+11G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|1/10|n.117G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron|1/3|n.112G>A|||||| 22 50687558 . G A . . ANN=A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|8/20|c.730C>T|p.His244Tyr|1083/2687|730/2010|244/669||,A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|8/18|c.730C>T|p.His244Tyr|938/2133|730/1860|244/619||,A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|8/19|c.730C>T|p.His244Tyr|730/1950|730/1950|244/649||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|10/20|c.730C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|9/20|c.730C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|7/20|c.730C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|2/20|c.730C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|6/20|c.730C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|3/20|c.730C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|1/20|c.730C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|4/20|c.730C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|11/20|c.730C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|5/20|c.730C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|8/20|c.730C>T||||||,A|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|7/18|n.*358C>T|||||935|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106C>T|||||4565|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1C>T|||||4137|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494C>T|||||4177|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1C>T|||||1181|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.-1C>T|||||757|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.-1C>T|||||89|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.-1C>T|||||674|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.-1C>T|||||54|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420C>T|||||3774|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715C>T|||||158|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759C>T|||||730|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810C>T|||||739|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578C>T|||||990|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469C>T|||||1128|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961C>T|||||3774|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785C>T|||||3774|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019C>T|||||3791|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.*2760C>T|||||4655|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron||n.*2101C>T|||||4659|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.*2021C>T|||||4724|,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|5/13|n.*175+506C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|7/18|n.*358C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|8/16|n.730C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|7/19|n.777C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|7/19|n.839C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|1/10|n.80C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|14/26|n.5002C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron|1/3|n.75C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript|6/8|n.589C>T|||||| 22 50687573 . C T . . ANN=T|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|8/20|c.715G>A|p.Val239Met|1068/2687|715/2010|239/669||,T|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|8/18|c.715G>A|p.Val239Met|923/2133|715/1860|239/619||,T|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|8/19|c.715G>A|p.Val239Met|715/1950|715/1950|239/649||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|10/20|c.715G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|9/20|c.715G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|7/20|c.715G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|2/20|c.715G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|6/20|c.715G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|3/20|c.715G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|1/20|c.715G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|4/20|c.715G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|11/20|c.715G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|5/20|c.715G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|8/20|c.715G>A||||||,T|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|7/18|n.*343G>A|||||920|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106G>A|||||4580|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1G>A|||||4152|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494G>A|||||4192|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1G>A|||||1196|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.-1G>A|||||772|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.-1G>A|||||104|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.-1G>A|||||689|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.-1G>A|||||69|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420G>A|||||3759|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715G>A|||||143|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759G>A|||||715|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810G>A|||||724|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578G>A|||||975|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469G>A|||||1113|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961G>A|||||3759|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785G>A|||||3759|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019G>A|||||3776|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.*2760G>A|||||4640|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron||n.*2101G>A|||||4644|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.*2021G>A|||||4709|,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|5/13|n.*175+491G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|7/18|n.*343G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|8/16|n.715G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|7/19|n.762G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|7/19|n.824G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|1/10|n.65G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|14/26|n.4987G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron|1/3|n.60G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript|6/8|n.574G>A|||||| 22 50687595 . A G . . ANN=G|splice_region_variant&synonymous_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|8/20|c.693T>C|p.Val231Val|1046/2687|693/2010|231/669||,G|splice_region_variant&non_coding_exon_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|7/18|n.*321T>C||||||,G|splice_region_variant&non_coding_exon_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|8/16|n.693T>C||||||,G|splice_region_variant&synonymous_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|8/18|c.693T>C|p.Val231Val|901/2133|693/1860|231/619||,G|splice_region_variant&non_coding_exon_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|7/19|n.740T>C||||||,G|splice_region_variant&non_coding_exon_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|7/19|n.802T>C||||||,G|splice_region_variant&synonymous_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|8/19|c.693T>C|p.Val231Val|693/1950|693/1950|231/649||,G|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|10/20|c.693T>C||||||,G|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|9/20|c.693T>C||||||,G|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|7/20|c.693T>C||||||,G|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|2/20|c.693T>C||||||,G|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|6/20|c.693T>C||||||,G|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|3/20|c.693T>C||||||,G|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|1/20|c.693T>C||||||,G|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|4/20|c.693T>C||||||,G|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|11/20|c.693T>C||||||,G|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|5/20|c.693T>C||||||,G|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|8/20|c.693T>C||||||,G|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|7/18|n.*321T>C|||||898|,G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106T>C|||||4602|,G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1T>C|||||4174|,G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494T>C|||||4214|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1T>C|||||1218|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.-1T>C|||||794|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.-1T>C|||||126|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.-1T>C|||||711|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.-1T>C|||||91|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420T>C|||||3737|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715T>C|||||121|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759T>C|||||693|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810T>C|||||702|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578T>C|||||953|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469T>C|||||1091|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961T>C|||||3737|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785T>C|||||3737|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019T>C|||||3754|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.*2760T>C|||||4618|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron||n.*2101T>C|||||4622|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.*2021T>C|||||4687|,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|5/13|n.*175+469T>C||||||,G|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|1/10|n.43T>C||||||,G|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|14/26|n.4965T>C||||||,G|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron|1/3|n.38T>C||||||,G|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript|6/8|n.552T>C|||||| 22 50687800 . C T . . ANN=T|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|7/20|c.647G>A|p.Arg216Gln|1000/2687|647/2010|216/669||,T|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|7/18|c.647G>A|p.Arg216Gln|855/2133|647/1860|216/619||,T|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|7/19|c.647G>A|p.Arg216Gln|647/1950|647/1950|216/649||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|10/20|c.647G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|9/20|c.647G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|7/20|c.647G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|2/20|c.647G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|6/20|c.647G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|3/20|c.647G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|1/20|c.647G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|4/20|c.647G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|11/20|c.647G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|5/20|c.647G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|8/20|c.647G>A||||||,T|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|6/18|n.*275G>A|||||693|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106G>A|||||4807|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1G>A|||||4379|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494G>A|||||4419|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.-1G>A|||||163|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1G>A|||||1423|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.-1G>A|||||999|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.-1G>A|||||331|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.-1G>A|||||916|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.-1G>A|||||296|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.-1G>A|||||168|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420G>A|||||3532|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759G>A|||||488|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810G>A|||||497|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578G>A|||||748|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469G>A|||||886|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961G>A|||||3532|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785G>A|||||3532|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019G>A|||||3549|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.*2760G>A|||||4413|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron||n.*2101G>A|||||4417|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.*2021G>A|||||4482|,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|5/13|n.*175+264G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|6/18|n.*275G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|7/16|n.647G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|6/19|n.694G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|6/19|n.756G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|14/26|n.4760G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript|5/8|n.476G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron|3/3|n.631G>A|||||| 22 50688023 . CTG C . . ANN=|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|10/20|c.563+39_563+40delCA||||||,|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|9/20|c.563+39_563+40delCA||||||,|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|7/20|c.563+39_563+40delCA||||||,|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|2/20|c.563+39_563+40delCA||||||,|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|6/20|c.563+39_563+40delCA||||||,|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|3/20|c.563+39_563+40delCA||||||,|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|1/20|c.563+39_563+40delCA||||||,|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|4/20|c.563+39_563+40delCA||||||,|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|11/20|c.563+39_563+40delCA||||||,|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|5/20|c.563+39_563+40delCA||||||,|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|8/20|c.563+39_563+40delCA||||||,|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1_-1delCA|||||4603|,|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494_-494delCA|||||4643|,|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.-1_-1delCA|||||387|,|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1_-1delCA|||||1647|,|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.-1_-1delCA|||||1223|,|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.-1_-1delCA|||||555|,|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.-1_-1delCA|||||1140|,|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.-1_-1delCA|||||520|,|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.-1_-1delCA|||||392|,|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420_*1420delCA|||||3308|,|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759_*759delCA|||||264|,|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810_*810delCA|||||273|,|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578_*578delCA|||||524|,|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469_*469delCA|||||662|,|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961_*961delCA|||||3308|,|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785_*1785delCA|||||3308|,|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019_*2019delCA|||||3325|,|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.*2760_*2760delCA|||||4189|,|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron||n.*2101_*2101delCA|||||4193|,|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.*2021_*2021delCA|||||4258|,|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|6/19|c.563+39_563+40delCA||||||,|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|5/17|n.*191+39_*191+40delCA||||||,|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|5/13|n.*175+39_*175+40delCA||||||,|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|6/15|n.563+39_563+40delCA||||||,|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|6/17|c.563+39_563+40delCA||||||,|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|5/18|n.548+39_548+40delCA||||||,|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|5/18|n.672+39_672+40delCA||||||,|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|13/25|n.4676+39_4676+40delCA||||||,|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|6/18|c.563+39_563+40delCA||||||,|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript|4/7|n.392+39_392+40delCA||||||,|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron|3/3|n.406_407delCA|||||| 22 50688049 . C T . . ANN=T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|10/20|c.563+15G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|9/20|c.563+15G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|7/20|c.563+15G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|2/20|c.563+15G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|6/20|c.563+15G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|3/20|c.563+15G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|1/20|c.563+15G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|4/20|c.563+15G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|11/20|c.563+15G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|5/20|c.563+15G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|8/20|c.563+15G>A||||||,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1G>A|||||4628|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494G>A|||||4668|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.-1G>A|||||412|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1G>A|||||1672|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.-1G>A|||||1248|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.-1G>A|||||580|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.-1G>A|||||1165|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.-1G>A|||||545|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.-1G>A|||||417|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420G>A|||||3283|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759G>A|||||239|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810G>A|||||248|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578G>A|||||499|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469G>A|||||637|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961G>A|||||3283|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785G>A|||||3283|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019G>A|||||3300|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.*2760G>A|||||4164|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron||n.*2101G>A|||||4168|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.*2021G>A|||||4233|,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|6/19|c.563+15G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|5/17|n.*191+15G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|5/13|n.*175+15G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|6/15|n.563+15G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|6/17|c.563+15G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|5/18|n.548+15G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|5/18|n.672+15G>A||||||,T|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|13/25|n.4676+15G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|6/18|c.563+15G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript|4/7|n.392+15G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron|3/3|n.382G>A|||||| 22 50688051 . C T . . ANN=T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|10/20|c.563+13G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|9/20|c.563+13G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|7/20|c.563+13G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|2/20|c.563+13G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|6/20|c.563+13G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|3/20|c.563+13G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|1/20|c.563+13G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|4/20|c.563+13G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|11/20|c.563+13G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|5/20|c.563+13G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|8/20|c.563+13G>A||||||,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1G>A|||||4630|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494G>A|||||4670|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.-1G>A|||||414|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1G>A|||||1674|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.-1G>A|||||1250|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.-1G>A|||||582|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.-1G>A|||||1167|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.-1G>A|||||547|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.-1G>A|||||419|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420G>A|||||3281|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759G>A|||||237|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810G>A|||||246|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578G>A|||||497|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469G>A|||||635|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961G>A|||||3281|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785G>A|||||3281|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019G>A|||||3298|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.*2760G>A|||||4162|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron||n.*2101G>A|||||4166|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.*2021G>A|||||4231|,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|6/19|c.563+13G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|5/17|n.*191+13G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|5/13|n.*175+13G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|6/15|n.563+13G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|6/17|c.563+13G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|5/18|n.548+13G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|5/18|n.672+13G>A||||||,T|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|13/25|n.4676+13G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|6/18|c.563+13G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript|4/7|n.392+13G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron|3/3|n.380G>A|||||| 22 50688259 . C A . . ANN=A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|10/20|c.494+30G>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|9/20|c.494+30G>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|7/20|c.494+30G>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|2/20|c.494+30G>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|6/20|c.494+30G>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|3/20|c.494+30G>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|1/20|c.494+30G>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|4/20|c.494+30G>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|11/20|c.494+30G>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|5/20|c.494+30G>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|8/20|c.494+30G>T||||||,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1G>T|||||4838|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494G>T|||||4878|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.-1G>T|||||622|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1G>T|||||1882|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.-1G>T|||||1458|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.-1G>T|||||790|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.-1G>T|||||1375|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.-1G>T|||||755|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.-1G>T|||||627|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420G>T|||||3073|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759G>T|||||29|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810G>T|||||38|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578G>T|||||289|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469G>T|||||427|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961G>T|||||3073|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785G>T|||||3073|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019G>T|||||3090|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.*2760G>T|||||3954|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron||n.*2101G>T|||||3958|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.*2021G>T|||||4023|,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|5/19|c.494+30G>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|4/17|n.*106+30G>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|4/13|n.*106+30G>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|5/15|n.494+30G>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|5/17|c.494+30G>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|4/18|n.479+30G>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|4/18|n.603+30G>T||||||,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|12/25|n.4607+30G>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|5/18|c.494+30G>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript|3/7|n.323+30G>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron|2/2|n.298+30G>T|||||| 22 50688335 . C T . . ANN=T|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|5/20|c.448G>A|p.Val150Met|801/2687|448/2010|150/669||,T|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|5/18|c.448G>A|p.Val150Met|656/2133|448/1860|150/619||,T|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|5/19|c.448G>A|p.Val150Met|448/1950|448/1950|150/649||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|10/20|c.448G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|9/20|c.448G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|7/20|c.448G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|2/20|c.448G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|6/20|c.448G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|3/20|c.448G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|1/20|c.448G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|4/20|c.448G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|11/20|c.448G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|5/20|c.448G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|8/20|c.448G>A||||||,T|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|4/18|n.*60G>A|||||158|,T|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|4/14|n.*60G>A|||||158|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1G>A|||||4914|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494G>A|||||4954|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.-1G>A|||||698|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1G>A|||||1958|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.-1G>A|||||1534|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.-1G>A|||||866|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.-1G>A|||||1451|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.-1G>A|||||831|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.-1G>A|||||703|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420G>A|||||2997|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578G>A|||||213|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469G>A|||||351|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961G>A|||||2997|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785G>A|||||2997|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019G>A|||||3014|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.*2760G>A|||||3878|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron||n.*2101G>A|||||3882|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.*2021G>A|||||3947|,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|4/18|n.*60G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|4/14|n.*60G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|5/16|n.448G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|4/19|n.433G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|4/19|n.557G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|12/26|n.4561G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript|3/8|n.277G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron|2/3|n.252G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript|4/4|n.712G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript|3/3|n.772G>A|||||| 22 50688348 . A G . . ANN=G|synonymous_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|5/20|c.435T>C|p.Cys145Cys|788/2687|435/2010|145/669||,G|synonymous_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|5/18|c.435T>C|p.Cys145Cys|643/2133|435/1860|145/619||,G|synonymous_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|5/19|c.435T>C|p.Cys145Cys|435/1950|435/1950|145/649||,G|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|10/20|c.435T>C||||||,G|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|9/20|c.435T>C||||||,G|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|7/20|c.435T>C||||||,G|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|2/20|c.435T>C||||||,G|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|6/20|c.435T>C||||||,G|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|3/20|c.435T>C||||||,G|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|1/20|c.435T>C||||||,G|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|4/20|c.435T>C||||||,G|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|11/20|c.435T>C||||||,G|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|5/20|c.435T>C||||||,G|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|8/20|c.435T>C||||||,G|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|4/18|n.*47T>C|||||145|,G|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|4/14|n.*47T>C|||||145|,G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1T>C|||||4927|,G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494T>C|||||4967|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.-1T>C|||||711|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1T>C|||||1971|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.-1T>C|||||1547|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.-1T>C|||||879|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.-1T>C|||||1464|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.-1T>C|||||844|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.-1T>C|||||716|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420T>C|||||2984|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578T>C|||||200|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469T>C|||||338|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961T>C|||||2984|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785T>C|||||2984|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019T>C|||||3001|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.*2760T>C|||||3865|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron||n.*2101T>C|||||3869|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.*2021T>C|||||3934|,G|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|4/18|n.*47T>C||||||,G|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|4/14|n.*47T>C||||||,G|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|5/16|n.435T>C||||||,G|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|4/19|n.420T>C||||||,G|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|4/19|n.544T>C||||||,G|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|12/26|n.4548T>C||||||,G|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript|3/8|n.264T>C||||||,G|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron|2/3|n.239T>C||||||,G|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript|4/4|n.699T>C||||||,G|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript|3/3|n.759T>C|||||| 22 50688398 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|4/19|c.390-5C>T||||||,A|splice_region_variant&intron_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|3/17|n.*2-5C>T||||||,A|splice_region_variant&intron_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|3/13|n.*2-5C>T||||||,A|splice_region_variant&intron_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|4/15|n.390-5C>T||||||,A|splice_region_variant&intron_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|4/17|c.390-5C>T||||||,A|splice_region_variant&intron_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|3/18|n.375-5C>T||||||,A|splice_region_variant&intron_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|3/18|n.499-5C>T||||||,A|splice_region_variant&intron_variant|LOW|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|11/25|n.4503-5C>T||||||,A|splice_region_variant&intron_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|4/18|c.390-5C>T||||||,A|splice_region_variant&intron_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript|2/7|n.219-5C>T||||||,A|splice_region_variant&intron_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron|1/2|n.194-5C>T||||||,A|splice_region_variant&intron_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript|3/3|n.654-5C>T||||||,A|splice_region_variant&intron_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript|2/2|n.714-5C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|10/20|c.390-5C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|9/20|c.390-5C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|7/20|c.390-5C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|2/20|c.390-5C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|6/20|c.390-5C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|3/20|c.390-5C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|1/20|c.390-5C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|4/20|c.390-5C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|11/20|c.390-5C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|5/20|c.390-5C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|8/20|c.390-5C>T||||||,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1C>T|||||4977|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.-1C>T|||||761|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1C>T|||||2021|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.-1C>T|||||1597|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.-1C>T|||||929|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.-1C>T|||||1514|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.-1C>T|||||894|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.-1C>T|||||766|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420C>T|||||2934|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578C>T|||||150|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469C>T|||||288|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961C>T|||||2934|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785C>T|||||2934|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019C>T|||||2951|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.*2760C>T|||||3815|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron||n.*2101C>T|||||3819|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.*2021C>T|||||3884| 22 50688456 . C T . . ANN=T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|10/20|c.389+36G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|9/20|c.389+36G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|7/20|c.389+36G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|2/20|c.389+36G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|6/20|c.389+36G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|3/20|c.389+36G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|1/20|c.389+36G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|4/20|c.389+36G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|11/20|c.389+36G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|5/20|c.389+36G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|8/20|c.389+36G>A||||||,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.-1G>A|||||819|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1G>A|||||2079|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.-1G>A|||||1655|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.-1G>A|||||987|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.-1G>A|||||1572|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.-1G>A|||||952|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.-1G>A|||||824|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420G>A|||||2876|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578G>A|||||92|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469G>A|||||230|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961G>A|||||2876|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785G>A|||||2876|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019G>A|||||2893|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.*2760G>A|||||3757|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron||n.*2101G>A|||||3761|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.*2021G>A|||||3826|,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|4/19|c.389+36G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|3/17|n.*1+36G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|3/13|n.*1+36G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|4/15|n.389+36G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|4/17|c.389+36G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|3/18|n.374+36G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|3/18|n.498+36G>A||||||,T|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|11/25|n.4502+36G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|4/18|c.389+36G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript|2/7|n.218+36G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron|1/2|n.193+36G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript|3/3|n.653+36G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript|2/2|n.713+36G>A|||||| 22 50688533 . A T . . ANN=T|synonymous_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|4/20|c.348T>A|p.Ala116Ala|701/2687|348/2010|116/669||,T|synonymous_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|4/18|c.348T>A|p.Ala116Ala|556/2133|348/1860|116/619||,T|synonymous_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|4/19|c.348T>A|p.Ala116Ala|348/1950|348/1950|116/649||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|10/20|c.348T>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|9/20|c.348T>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|7/20|c.348T>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|2/20|c.348T>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|6/20|c.348T>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|3/20|c.348T>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|1/20|c.348T>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|4/20|c.348T>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|11/20|c.348T>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|5/20|c.348T>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|8/20|c.348T>A||||||,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.-1T>A|||||896|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1T>A|||||2156|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.-1T>A|||||1732|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.-1T>A|||||1064|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.-1T>A|||||1649|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.-1T>A|||||1029|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.-1T>A|||||901|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420T>A|||||2799|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578T>A|||||15|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469T>A|||||153|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961T>A|||||2799|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785T>A|||||2799|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019T>A|||||2816|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.*2760T>A|||||3680|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron||n.*2101T>A|||||3684|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.*2021T>A|||||3749|,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|3/18|n.251T>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|3/14|n.251T>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|4/16|n.348T>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|3/19|n.333T>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|3/19|n.457T>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|11/26|n.4461T>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript|2/8|n.177T>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron|1/3|n.152T>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript|3/4|n.612T>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript|2/3|n.672T>A|||||| 22 50688550 . G A . . ANN=A|splice_region_variant&non_coding_exon_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript|4/4|n.576C>T||||||,A|synonymous_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|4/20|c.331C>T|p.Leu111Leu|684/2687|331/2010|111/669||,A|synonymous_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|4/18|c.331C>T|p.Leu111Leu|539/2133|331/1860|111/619||,A|synonymous_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|4/19|c.331C>T|p.Leu111Leu|331/1950|331/1950|111/649||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|10/20|c.331C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|9/20|c.331C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|7/20|c.331C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|2/20|c.331C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|6/20|c.331C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|3/20|c.331C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|1/20|c.331C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|4/20|c.331C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|11/20|c.331C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|5/20|c.331C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|8/20|c.331C>T||||||,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.-1C>T|||||913|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1C>T|||||2173|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.-1C>T|||||1749|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.-1C>T|||||1081|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.-1C>T|||||1666|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.-1C>T|||||1046|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.-1C>T|||||918|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420C>T|||||2782|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469C>T|||||136|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961C>T|||||2782|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785C>T|||||2782|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019C>T|||||2799|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.*2760C>T|||||3663|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron||n.*2101C>T|||||3667|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.*2021C>T|||||3732|,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|3/18|n.234C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|3/14|n.234C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|4/16|n.331C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|3/19|n.316C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|3/19|n.440C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|11/26|n.4444C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript|2/8|n.160C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron|1/3|n.135C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript|3/4|n.595C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript|2/3|n.655C>T|||||| 22 50688572 . C T . . ANN=T|synonymous_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|4/20|c.309G>A|p.Ala103Ala|662/2687|309/2010|103/669||,T|synonymous_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|4/18|c.309G>A|p.Ala103Ala|517/2133|309/1860|103/619||,T|synonymous_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|4/19|c.309G>A|p.Ala103Ala|309/1950|309/1950|103/649||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|10/20|c.309G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|9/20|c.309G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|7/20|c.309G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|2/20|c.309G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|6/20|c.309G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|3/20|c.309G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|1/20|c.309G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|4/20|c.309G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|11/20|c.309G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|5/20|c.309G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|8/20|c.309G>A||||||,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.-1G>A|||||935|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1G>A|||||2195|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.-1G>A|||||1771|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.-1G>A|||||1103|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.-1G>A|||||1688|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.-1G>A|||||1068|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.-1G>A|||||940|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420G>A|||||2760|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469G>A|||||114|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961G>A|||||2760|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785G>A|||||2760|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019G>A|||||2777|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.*2760G>A|||||3641|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron||n.*2101G>A|||||3645|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.*2021G>A|||||3710|,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|3/18|n.212G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|3/14|n.212G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|4/16|n.309G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|3/19|n.294G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|3/19|n.418G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|11/26|n.4422G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript|2/8|n.138G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron|1/3|n.113G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript|3/4|n.573G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript|2/3|n.633G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript|4/4|n.554G>A|||||| 22 50688573 . G A . . ANN=A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|4/20|c.308C>T|p.Ala103Val|661/2687|308/2010|103/669||,A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|4/18|c.308C>T|p.Ala103Val|516/2133|308/1860|103/619||,A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|4/19|c.308C>T|p.Ala103Val|308/1950|308/1950|103/649||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|10/20|c.308C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|9/20|c.308C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|7/20|c.308C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|2/20|c.308C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|6/20|c.308C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|3/20|c.308C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|1/20|c.308C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|4/20|c.308C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|11/20|c.308C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|5/20|c.308C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|8/20|c.308C>T||||||,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.-1C>T|||||936|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1C>T|||||2196|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.-1C>T|||||1772|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.-1C>T|||||1104|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.-1C>T|||||1689|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.-1C>T|||||1069|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.-1C>T|||||941|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420C>T|||||2759|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469C>T|||||113|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961C>T|||||2759|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785C>T|||||2759|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019C>T|||||2776|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.*2760C>T|||||3640|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron||n.*2101C>T|||||3644|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.*2021C>T|||||3709|,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|3/18|n.211C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|3/14|n.211C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|4/16|n.308C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|3/19|n.293C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|3/19|n.417C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|11/26|n.4421C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript|2/8|n.137C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron|1/3|n.112C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript|3/4|n.572C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript|2/3|n.632C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript|4/4|n.553C>T|||||| 22 50688605 . C T . . ANN=T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|10/20|c.292-16G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|9/20|c.292-16G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|7/20|c.292-16G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|2/20|c.292-16G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|6/20|c.292-16G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|3/20|c.292-16G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|1/20|c.292-16G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|4/20|c.292-16G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|11/20|c.292-16G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|5/20|c.292-16G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|8/20|c.292-16G>A||||||,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.-1G>A|||||968|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1G>A|||||2228|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.-1G>A|||||1804|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.-1G>A|||||1136|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.-1G>A|||||1721|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.-1G>A|||||1101|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.-1G>A|||||973|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420G>A|||||2727|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469G>A|||||81|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961G>A|||||2727|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785G>A|||||2727|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019G>A|||||2744|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.*2760G>A|||||3608|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron||n.*2101G>A|||||3612|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.*2021G>A|||||3677|,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|3/19|c.292-16G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|2/17|n.195-16G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|2/13|n.195-16G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|3/15|n.292-16G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|3/17|c.292-16G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|2/18|n.277-16G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|2/18|n.401-16G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|3/18|c.292-16G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript|1/7|n.121-16G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript|2/3|n.556-16G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript|1/2|n.616-16G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript|3/3|n.537-16G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|11/26|n.4389G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron|1/3|n.80G>A|||||| 22 50688635 . C T . . ANN=T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|10/20|c.292-46G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|9/20|c.292-46G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|7/20|c.292-46G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|2/20|c.292-46G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|6/20|c.292-46G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|3/20|c.292-46G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|1/20|c.292-46G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|4/20|c.292-46G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|11/20|c.292-46G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|5/20|c.292-46G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|8/20|c.292-46G>A||||||,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.-1G>A|||||998|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1G>A|||||2258|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.-1G>A|||||1834|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.-1G>A|||||1166|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.-1G>A|||||1751|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.-1G>A|||||1131|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.-1G>A|||||1003|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420G>A|||||2697|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469G>A|||||51|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961G>A|||||2697|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785G>A|||||2697|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019G>A|||||2714|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.*2760G>A|||||3578|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron||n.*2101G>A|||||3582|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.*2021G>A|||||3647|,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|3/19|c.292-46G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|2/17|n.195-46G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|2/13|n.195-46G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|3/15|n.292-46G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|3/17|c.292-46G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|2/18|n.277-46G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|2/18|n.401-46G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|3/18|c.292-46G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript|1/7|n.121-46G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript|2/3|n.556-46G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript|1/2|n.616-46G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript|3/3|n.537-46G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|11/26|n.4359G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron|1/3|n.50G>A|||||| 22 50689000 . A AG . . ANN=G|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|10/20|c.195-49dupC||||||,G|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|9/20|c.195-49dupC||||||,G|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|7/20|c.195-49dupC||||||,G|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|2/20|c.195-49dupC||||||,G|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|6/20|c.195-49dupC||||||,G|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|3/20|c.195-49dupC||||||,G|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|1/20|c.195-49dupC||||||,G|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|4/20|c.195-49dupC||||||,G|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|11/20|c.195-49dupC||||||,G|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|5/20|c.195-49dupC||||||,G|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|8/20|c.195-49dupC||||||,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.-1dupC|||||1364|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1dupC|||||2624|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.-1dupC|||||2200|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.-1dupC|||||1532|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.-1dupC|||||2117|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.-1dupC|||||1497|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.-1dupC|||||1369|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.-1dupC|||||317|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420dupC|||||2331|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961dupC|||||2331|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785dupC|||||2331|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019dupC|||||2348|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.*2760dupC|||||3212|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron||n.*2101dupC|||||3216|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.*2021dupC|||||3281|,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|2/19|c.195-49dupC||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|2/17|n.194+199dupC||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|2/13|n.194+199dupC||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|2/15|n.195-49dupC||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|2/17|c.195-49dupC||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|2/18|n.276+199dupC||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|2/18|n.400+199dupC||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|2/18|c.195-49dupC||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript|1/7|n.120+199dupC||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript|1/3|n.459-49dupC||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript|1/2|n.615+199dupC||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript|2/3|n.440-49dupC||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron|1/1|n.203-49dupC||||||,G|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|11/26|n.3993dupC|||||| 22 50689002 . G A . . ANN=A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|10/20|c.195-50C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|9/20|c.195-50C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|7/20|c.195-50C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|2/20|c.195-50C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|6/20|c.195-50C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|3/20|c.195-50C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|1/20|c.195-50C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|4/20|c.195-50C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|11/20|c.195-50C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|5/20|c.195-50C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|8/20|c.195-50C>T||||||,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.-1C>T|||||1365|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1C>T|||||2625|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.-1C>T|||||2201|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.-1C>T|||||1533|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.-1C>T|||||2118|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.-1C>T|||||1498|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.-1C>T|||||1370|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.-1C>T|||||318|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420C>T|||||2330|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961C>T|||||2330|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785C>T|||||2330|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019C>T|||||2347|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.*2760C>T|||||3211|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron||n.*2101C>T|||||3215|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.*2021C>T|||||3280|,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|2/19|c.195-50C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|2/17|n.194+198C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|2/13|n.194+198C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|2/15|n.195-50C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|2/17|c.195-50C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|2/18|n.276+198C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|2/18|n.400+198C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|2/18|c.195-50C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript|1/7|n.120+198C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript|1/3|n.459-50C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript|1/2|n.615+198C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript|2/3|n.440-50C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron|1/1|n.203-50C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|11/26|n.3992C>T|||||| 22 50689267 . G A . . ANN=A|synonymous_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|2/20|c.127C>T|p.Leu43Leu|480/2687|127/2010|43/669||,A|synonymous_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|2/18|c.127C>T|p.Leu43Leu|335/2133|127/1860|43/619||,A|synonymous_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|2/19|c.127C>T|p.Leu43Leu|127/1950|127/1950|43/649||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|10/20|c.127C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|9/20|c.127C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|7/20|c.127C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|2/20|c.127C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|6/20|c.127C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|3/20|c.127C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|1/20|c.127C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|4/20|c.127C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|11/20|c.127C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|5/20|c.127C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|8/20|c.127C>T||||||,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.-1C>T|||||1630|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1C>T|||||2890|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.-1C>T|||||2466|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.-1C>T|||||1798|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.-1C>T|||||2383|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.-1C>T|||||1763|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.-1C>T|||||1635|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.-1C>T|||||583|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420C>T|||||2065|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961C>T|||||2065|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785C>T|||||2065|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019C>T|||||2082|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.*2760C>T|||||2946|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron||n.*2101C>T|||||2950|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.*2021C>T|||||3015|,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|2/18|n.127C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|2/14|n.127C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|2/16|n.127C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|2/19|n.209C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|2/19|n.333C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|11/26|n.3727C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript|1/8|n.53C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript|1/4|n.391C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript|1/3|n.548C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript|2/4|n.372C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron|1/2|n.135C>T|||||| 22 50689311 . G A . . ANN=A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|2/20|c.83C>T|p.Pro28Leu|436/2687|83/2010|28/669||,A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|2/18|c.83C>T|p.Pro28Leu|291/2133|83/1860|28/619||,A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|2/19|c.83C>T|p.Pro28Leu|83/1950|83/1950|28/649||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|10/20|c.83C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|9/20|c.83C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|7/20|c.83C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|2/20|c.83C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|6/20|c.83C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|3/20|c.83C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|1/20|c.83C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|4/20|c.83C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|11/20|c.83C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|5/20|c.83C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|8/20|c.83C>T||||||,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.-1C>T|||||1674|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1C>T|||||2934|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.-1C>T|||||2510|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.-1C>T|||||1842|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.-1C>T|||||2427|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.-1C>T|||||1807|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.-1C>T|||||1679|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.-1C>T|||||627|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420C>T|||||2021|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961C>T|||||2021|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785C>T|||||2021|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019C>T|||||2038|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.*2760C>T|||||2902|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron||n.*2101C>T|||||2906|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.*2021C>T|||||2971|,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|2/18|n.83C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|2/14|n.83C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|2/16|n.83C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|2/19|n.165C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|2/19|n.289C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|11/26|n.3683C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript|1/8|n.9C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript|1/4|n.347C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript|1/3|n.504C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript|2/4|n.328C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron|1/2|n.91C>T|||||| 22 50689427 . G A . . ANN=A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|1/20|c.35C>T|p.Thr12Met|388/2687|35/2010|12/669||,A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|1/18|c.35C>T|p.Thr12Met|243/2133|35/1860|12/619||,A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|1/19|c.35C>T|p.Thr12Met|35/1950|35/1950|12/649||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|10/20|c.35C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|9/20|c.35C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|7/20|c.35C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|2/20|c.35C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|6/20|c.35C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|3/20|c.35C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|1/20|c.35C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|4/20|c.35C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|11/20|c.35C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|5/20|c.35C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|8/20|c.35C>T||||||,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.-1C>T|||||1790|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1C>T|||||3050|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.-1C>T|||||2626|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.-1C>T|||||1958|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.-1C>T|||||2543|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.-1C>T|||||1923|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.-1C>T|||||1795|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.-1C>T|||||108|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.-1C>T|||||743|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.-1C>T|||||26|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420C>T|||||1905|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961C>T|||||1905|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785C>T|||||1905|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019C>T|||||1922|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.*2760C>T|||||2786|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron||n.*2101C>T|||||2790|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.*2021C>T|||||2855|,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|1/18|n.142-93C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|1/18|n.266-93C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript|1/3|n.305-93C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|1/18|n.35C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|1/14|n.35C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|1/16|n.35C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|11/26|n.3567C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript|1/4|n.231C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript|1/3|n.388C>T|||||| 22 50689460 . A G . . ANN=G|start_lost|HIGH|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|1/20|c.2T>C|p.Met1?|355/2687|2/2010|1/669||,G|start_lost|HIGH|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|1/18|c.2T>C|p.Met1?|210/2133|2/1860|1/619||,G|start_lost|HIGH|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|1/19|c.2T>C|p.Met1?|2/1950|2/1950|1/649||,G|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|10/20|c.2T>C||||||,G|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|9/20|c.2T>C||||||,G|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|7/20|c.2T>C||||||,G|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|2/20|c.2T>C||||||,G|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|6/20|c.2T>C||||||,G|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|3/20|c.2T>C||||||,G|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|1/20|c.2T>C||||||,G|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|4/20|c.2T>C||||||,G|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|11/20|c.2T>C||||||,G|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|5/20|c.2T>C||||||,G|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|8/20|c.2T>C||||||,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.-1T>C|||||1823|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1T>C|||||3083|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.-1T>C|||||2659|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.-1T>C|||||1991|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.-1T>C|||||2576|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.-1T>C|||||1956|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.-1T>C|||||1828|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.-1T>C|||||141|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.-1T>C|||||776|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.-1T>C|||||59|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420T>C|||||1872|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961T>C|||||1872|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785T>C|||||1872|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019T>C|||||1889|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.*2760T>C|||||2753|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron||n.*2101T>C|||||2757|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.*2021T>C|||||2822|,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|1/18|n.141+71T>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|1/18|n.265+71T>C||||||,G|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript|1/3|n.304+71T>C||||||,G|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|1/18|n.2T>C||||||,G|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|1/14|n.2T>C||||||,G|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|1/16|n.2T>C||||||,G|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|11/26|n.3534T>C||||||,G|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript|1/4|n.198T>C||||||,G|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript|1/3|n.355T>C||||||;LOF=(HDAC10|ENSG00000100429|21|0.14) 22 50691793 . A G . . ANN=G|3_prime_UTR_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding|12/12|c.*37T>C|||||37|,G|3_prime_UTR_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding|10/10|c.*37T>C|||||37|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.-354T>C|||||1979|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.-230T>C|||||2103|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay||n.-48T>C|||||2285|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay||n.-1T>C|||||2332|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding||c.-209T>C|||||2124|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript||n.-1T>C|||||2122|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript||n.-1T>C|||||1998|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.-1T>C|||||4156|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding||c.-1T>C|||||2332|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.-1T>C|||||4992|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.-1T>C|||||4324|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.-1T>C|||||4909|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.-1T>C|||||4289|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.-1T>C|||||4161|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.-1T>C|||||2474|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.-1T>C|||||3109|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.-1T>C|||||2136|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.-1T>C|||||1979|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.-1T>C|||||1959|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.-1T>C|||||2392|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.*2760T>C|||||420|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron||n.*2101T>C|||||424|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.*2021T>C|||||489|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript||n.*498T>C|||||4199|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding||c.*394T>C|||||4325|,G|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|11/26|n.1201T>C||||||,G|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron|12/12|n.1324T>C||||||,G|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron|11/11|n.1575T>C|||||| 22 50691870 . C T . . ANN=T|missense_variant|MODERATE|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding|12/12|c.1064G>A|p.Arg355Gln|1380/1918|1064/1104|355/367||,T|missense_variant|MODERATE|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding|10/10|c.794G>A|p.Arg265Gln|921/1459|794/834|265/277||,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.-354G>A|||||2056|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.-230G>A|||||2180|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay||n.-48G>A|||||2362|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay||n.-1G>A|||||2409|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding||c.-209G>A|||||2201|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript||n.-1G>A|||||2199|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript||n.-1G>A|||||2075|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.-1G>A|||||4233|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding||c.-1G>A|||||2409|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.-1G>A|||||4401|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.-1G>A|||||4986|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.-1G>A|||||4366|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.-1G>A|||||4238|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.-1G>A|||||2551|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.-1G>A|||||3186|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.-1G>A|||||2213|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.-1G>A|||||2056|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.-1G>A|||||2036|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.-1G>A|||||2469|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.*2760G>A|||||343|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron||n.*2101G>A|||||347|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.*2021G>A|||||412|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript||n.*498G>A|||||4122|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding||c.*394G>A|||||4248|,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|11/26|n.1124G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron|12/12|n.1247G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron|11/11|n.1498G>A|||||| 22 50691914 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding|11/11|c.1025-5G>A||||||,T|splice_region_variant&intron_variant|LOW|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|10/25|n.1085-5G>A||||||,T|splice_region_variant&intron_variant|LOW|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding|9/9|c.755-5G>A||||||,T|splice_region_variant&intron_variant|LOW|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron|11/11|n.1208-5G>A||||||,T|splice_region_variant&intron_variant|LOW|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron|10/10|n.1459-5G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|helix|ENST00000215659|protein_coding|12/12|c.1025-5G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|helix|ENST00000215659|protein_coding|11/12|c.1025-5G>A||||||,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.-354G>A|||||2100|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.-230G>A|||||2224|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay||n.-48G>A|||||2406|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay||n.-1G>A|||||2453|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding||c.-209G>A|||||2245|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript||n.-1G>A|||||2243|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript||n.-1G>A|||||2119|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.-1G>A|||||4277|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding||c.-1G>A|||||2453|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.-1G>A|||||4445|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.-1G>A|||||4410|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.-1G>A|||||4282|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.-1G>A|||||2595|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.-1G>A|||||3230|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.-1G>A|||||2257|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.-1G>A|||||2100|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.-1G>A|||||2080|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.-1G>A|||||2513|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.*2760G>A|||||299|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron||n.*2101G>A|||||303|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.*2021G>A|||||368|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript||n.*498G>A|||||4078|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding||c.*394G>A|||||4204| 22 50691920 . T TG . . ANN=G|sequence_feature|LOW|MAPK12|ENSG00000188130|helix|ENST00000215659|protein_coding|12/12|c.1025-12dupC||||||,G|sequence_feature|LOW|MAPK12|ENSG00000188130|helix|ENST00000215659|protein_coding|11/12|c.1025-12dupC||||||,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.-354dupC|||||2107|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.-230dupC|||||2231|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay||n.-48dupC|||||2413|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay||n.-1dupC|||||2460|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding||c.-209dupC|||||2252|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript||n.-1dupC|||||2250|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript||n.-1dupC|||||2126|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.-1dupC|||||4284|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding||c.-1dupC|||||2460|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.-1dupC|||||4452|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.-1dupC|||||4417|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.-1dupC|||||4289|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.-1dupC|||||2602|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.-1dupC|||||3237|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.-1dupC|||||2264|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.-1dupC|||||2107|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.-1dupC|||||2087|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.-1dupC|||||2520|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.*2760dupC|||||292|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron||n.*2101dupC|||||296|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.*2021dupC|||||361|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript||n.*498dupC|||||4071|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding||c.*394dupC|||||4197|,G|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding|11/11|c.1025-12dupC||||||,G|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|10/25|n.1085-12dupC||||||,G|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding|9/9|c.755-12dupC||||||,G|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron|11/11|n.1208-12dupC||||||,G|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron|10/10|n.1459-12dupC|||||| 22 50693704 . C T . . ANN=T|missense_variant|MODERATE|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding|11/12|c.946G>A|p.Asp316Asn|1262/1918|946/1104|316/367||,T|missense_variant|MODERATE|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding|9/10|c.676G>A|p.Asp226Asn|803/1459|676/834|226/277||,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.-354G>A|||||3890|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.-230G>A|||||4014|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay||n.-48G>A|||||4196|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay||n.-1G>A|||||4243|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding||c.-209G>A|||||4035|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript||n.-1G>A|||||4033|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript||n.-1G>A|||||3909|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding||c.-1G>A|||||4243|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.-1G>A|||||4385|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.-1G>A|||||4047|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.-1G>A|||||3890|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.-1G>A|||||3870|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.-1G>A|||||4303|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript||n.*498G>A|||||2288|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding||c.*394G>A|||||2414|,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|10/26|n.1006G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron|11/12|n.1129G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron|10/11|n.1380G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron|4/4|n.1269G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron|8/8|n.614G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron|4/4|n.599G>A|||||| 22 50693705 . G A . . ANN=A|synonymous_variant|LOW|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding|11/12|c.945C>T|p.His315His|1261/1918|945/1104|315/367||,A|synonymous_variant|LOW|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding|9/10|c.675C>T|p.His225His|802/1459|675/834|225/277||,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.-354C>T|||||3891|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.-230C>T|||||4015|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay||n.-48C>T|||||4197|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay||n.-1C>T|||||4244|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding||c.-209C>T|||||4036|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript||n.-1C>T|||||4034|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript||n.-1C>T|||||3910|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding||c.-1C>T|||||4244|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.-1C>T|||||4386|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.-1C>T|||||4048|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.-1C>T|||||3891|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.-1C>T|||||3871|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.-1C>T|||||4304|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript||n.*498C>T|||||2287|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding||c.*394C>T|||||2413|,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|10/26|n.1005C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron|11/12|n.1128C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron|10/11|n.1379C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron|4/4|n.1268C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron|8/8|n.613C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron|4/4|n.598C>T|||||| 22 50693741 . G A . . ANN=A|synonymous_variant|LOW|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding|11/12|c.909C>T|p.Gly303Gly|1225/1918|909/1104|303/367||,A|synonymous_variant|LOW|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding|9/10|c.639C>T|p.Gly213Gly|766/1459|639/834|213/277||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|3/12|c.909C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|10/12|c.909C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|6/12|c.909C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|1/12|c.909C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|8/12|c.909C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|4/12|c.909C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|9/12|c.909C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|2/12|c.909C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|11/12|c.909C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|5/12|c.909C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|7/12|c.909C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|helix|ENST00000215659|protein_coding|11/12|c.909C>T||||||,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.-354C>T|||||3927|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.-230C>T|||||4051|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay||n.-48C>T|||||4233|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay||n.-1C>T|||||4280|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding||c.-209C>T|||||4072|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript||n.-1C>T|||||4070|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript||n.-1C>T|||||3946|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding||c.-1C>T|||||4280|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.-1C>T|||||4422|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.-1C>T|||||4084|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.-1C>T|||||3927|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.-1C>T|||||3907|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.-1C>T|||||4340|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript||n.*498C>T|||||2251|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding||c.*394C>T|||||2377|,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|10/26|n.969C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron|11/12|n.1092C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron|10/11|n.1343C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron|4/4|n.1232C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron|8/8|n.577C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron|4/4|n.562C>T|||||| 22 50693764 . C T . . ANN=T|missense_variant|MODERATE|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding|11/12|c.886G>A|p.Ala296Thr|1202/1918|886/1104|296/367||,T|missense_variant|MODERATE|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding|9/10|c.616G>A|p.Ala206Thr|743/1459|616/834|206/277||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|3/12|c.886G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|10/12|c.886G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|6/12|c.886G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|1/12|c.886G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|8/12|c.886G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|4/12|c.886G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|9/12|c.886G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|2/12|c.886G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|11/12|c.886G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|5/12|c.886G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|7/12|c.886G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|turn|ENST00000215659|protein_coding|11/12|c.886G>A||||||,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.-354G>A|||||3950|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.-230G>A|||||4074|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay||n.-48G>A|||||4256|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay||n.-1G>A|||||4303|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding||c.-209G>A|||||4095|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript||n.-1G>A|||||4093|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript||n.-1G>A|||||3969|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding||c.-1G>A|||||4303|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.-1G>A|||||4445|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.-1G>A|||||4107|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.-1G>A|||||3950|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.-1G>A|||||3930|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.-1G>A|||||4363|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript||n.*498G>A|||||2228|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding||c.*394G>A|||||2354|,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|10/26|n.946G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron|11/12|n.1069G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron|10/11|n.1320G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron|4/4|n.1209G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron|8/8|n.554G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron|4/4|n.539G>A|||||| 22 50693889 . G A . . ANN=A|synonymous_variant|LOW|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding|10/12|c.843C>T|p.Ser281Ser|1159/1918|843/1104|281/367||,A|synonymous_variant|LOW|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding|8/10|c.573C>T|p.Ser191Ser|700/1459|573/834|191/277||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|3/12|c.843C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|10/12|c.843C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|6/12|c.843C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|1/12|c.843C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|8/12|c.843C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|4/12|c.843C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|9/12|c.843C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|2/12|c.843C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|11/12|c.843C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|5/12|c.843C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|7/12|c.843C>T||||||,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.-354C>T|||||4075|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.-230C>T|||||4199|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay||n.-48C>T|||||4381|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay||n.-1C>T|||||4428|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding||c.-209C>T|||||4220|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript||n.-1C>T|||||4218|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript||n.-1C>T|||||4094|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding||c.-1C>T|||||4428|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.-1C>T|||||4570|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.-1C>T|||||4232|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.-1C>T|||||4075|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.-1C>T|||||4055|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.-1C>T|||||4488|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript||n.*498C>T|||||2103|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding||c.*394C>T|||||2229|,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|9/26|n.903C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron|10/12|n.1026C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron|9/11|n.1277C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron|3/4|n.1166C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron|7/8|n.511C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron|3/4|n.496C>T|||||| 22 50693899 . G A . . ANN=A|missense_variant|MODERATE|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding|10/12|c.833C>T|p.Thr278Ile|1149/1918|833/1104|278/367||,A|missense_variant|MODERATE|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding|8/10|c.563C>T|p.Thr188Ile|690/1459|563/834|188/277||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|3/12|c.833C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|10/12|c.833C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|6/12|c.833C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|1/12|c.833C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|8/12|c.833C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|4/12|c.833C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|9/12|c.833C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|2/12|c.833C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|11/12|c.833C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|5/12|c.833C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|7/12|c.833C>T||||||,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.-354C>T|||||4085|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.-230C>T|||||4209|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay||n.-48C>T|||||4391|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay||n.-1C>T|||||4438|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding||c.-209C>T|||||4230|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript||n.-1C>T|||||4228|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript||n.-1C>T|||||4104|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding||c.-1C>T|||||4438|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.-1C>T|||||4580|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.-1C>T|||||4242|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.-1C>T|||||4085|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.-1C>T|||||4065|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.-1C>T|||||4498|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript||n.*498C>T|||||2093|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding||c.*394C>T|||||2219|,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|9/26|n.893C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron|10/12|n.1016C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron|9/11|n.1267C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron|3/4|n.1156C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron|7/8|n.501C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron|3/4|n.486C>T|||||| 22 50693919 . C T . . ANN=T|synonymous_variant|LOW|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding|10/12|c.813G>A|p.Lys271Lys|1129/1918|813/1104|271/367||,T|synonymous_variant|LOW|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding|8/10|c.543G>A|p.Lys181Lys|670/1459|543/834|181/277||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|3/12|c.813G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|10/12|c.813G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|6/12|c.813G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|1/12|c.813G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|8/12|c.813G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|4/12|c.813G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|9/12|c.813G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|2/12|c.813G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|11/12|c.813G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|5/12|c.813G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|7/12|c.813G>A||||||,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.-354G>A|||||4105|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.-230G>A|||||4229|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay||n.-48G>A|||||4411|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay||n.-1G>A|||||4458|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding||c.-209G>A|||||4250|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript||n.-1G>A|||||4248|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript||n.-1G>A|||||4124|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding||c.-1G>A|||||4458|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.-1G>A|||||4600|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.-1G>A|||||4262|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.-1G>A|||||4105|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.-1G>A|||||4085|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.-1G>A|||||4518|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript||n.*498G>A|||||2073|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding||c.*394G>A|||||2199|,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|9/26|n.873G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron|10/12|n.996G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron|9/11|n.1247G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron|3/4|n.1136G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron|7/8|n.481G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron|3/4|n.466G>A|||||| 22 50693934 . G A . . ANN=A|synonymous_variant|LOW|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding|10/12|c.798C>T|p.Pro266Pro|1114/1918|798/1104|266/367||,A|synonymous_variant|LOW|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding|8/10|c.528C>T|p.Pro176Pro|655/1459|528/834|176/277||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|3/12|c.798C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|10/12|c.798C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|6/12|c.798C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|1/12|c.798C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|8/12|c.798C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|4/12|c.798C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|9/12|c.798C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|2/12|c.798C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|11/12|c.798C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|5/12|c.798C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|7/12|c.798C>T||||||,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.-354C>T|||||4120|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.-230C>T|||||4244|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay||n.-48C>T|||||4426|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay||n.-1C>T|||||4473|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding||c.-209C>T|||||4265|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript||n.-1C>T|||||4263|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript||n.-1C>T|||||4139|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding||c.-1C>T|||||4473|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.-1C>T|||||4615|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.-1C>T|||||4277|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.-1C>T|||||4120|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.-1C>T|||||4100|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.-1C>T|||||4533|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript||n.*498C>T|||||2058|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding||c.*394C>T|||||2184|,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|9/26|n.858C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron|10/12|n.981C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron|9/11|n.1232C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron|3/4|n.1121C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron|7/8|n.466C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron|3/4|n.451C>T|||||| 22 50693939 . G C . . ANN=C|missense_variant|MODERATE|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding|10/12|c.793C>G|p.Leu265Val|1109/1918|793/1104|265/367||,C|missense_variant|MODERATE|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding|8/10|c.523C>G|p.Leu175Val|650/1459|523/834|175/277||,C|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|3/12|c.793C>G||||||,C|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|10/12|c.793C>G||||||,C|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|6/12|c.793C>G||||||,C|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|1/12|c.793C>G||||||,C|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|8/12|c.793C>G||||||,C|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|4/12|c.793C>G||||||,C|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|9/12|c.793C>G||||||,C|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|2/12|c.793C>G||||||,C|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|11/12|c.793C>G||||||,C|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|5/12|c.793C>G||||||,C|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|7/12|c.793C>G||||||,C|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.-354C>G|||||4125|,C|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.-230C>G|||||4249|,C|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay||n.-48C>G|||||4431|,C|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay||n.-1C>G|||||4478|,C|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding||c.-209C>G|||||4270|,C|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript||n.-1C>G|||||4268|,C|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript||n.-1C>G|||||4144|,C|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding||c.-1C>G|||||4478|,C|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.-1C>G|||||4620|,C|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.-1C>G|||||4282|,C|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.-1C>G|||||4125|,C|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.-1C>G|||||4105|,C|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.-1C>G|||||4538|,C|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript||n.*498C>G|||||2053|,C|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding||c.*394C>G|||||2179|,C|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|9/26|n.853C>G||||||,C|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron|10/12|n.976C>G||||||,C|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron|9/11|n.1227C>G||||||,C|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron|3/4|n.1116C>G||||||,C|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron|7/8|n.461C>G||||||,C|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron|3/4|n.446C>G|||||| 22 50694131 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding|8/11|c.692-8C>T||||||,A|splice_region_variant&intron_variant|LOW|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|7/25|n.752-8C>T||||||,A|splice_region_variant&intron_variant|LOW|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding|6/9|c.422-8C>T||||||,A|splice_region_variant&intron_variant|LOW|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron|8/11|n.875-8C>T||||||,A|splice_region_variant&intron_variant|LOW|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron|7/10|n.1126-8C>T||||||,A|splice_region_variant&intron_variant|LOW|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron|5/7|n.360-8C>T||||||,A|splice_region_variant&intron_variant|LOW|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron|1/3|n.345-8C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|3/12|c.692-8C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|10/12|c.692-8C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|6/12|c.692-8C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|1/12|c.692-8C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|8/12|c.692-8C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|4/12|c.692-8C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|9/12|c.692-8C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|2/12|c.692-8C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|11/12|c.692-8C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|5/12|c.692-8C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|7/12|c.692-8C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|helix|ENST00000215659|protein_coding|8/12|c.692-8C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|helix|ENST00000215659|protein_coding|9/12|c.692-8C>T||||||,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.-354C>T|||||4317|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.-230C>T|||||4441|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay||n.-48C>T|||||4623|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay||n.-1C>T|||||4670|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding||c.-209C>T|||||4462|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript||n.-1C>T|||||4460|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript||n.-1C>T|||||4336|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding||c.-1C>T|||||4670|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.-1C>T|||||4812|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.-1C>T|||||4474|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.-1C>T|||||4317|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.-1C>T|||||4297|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.-1C>T|||||4730|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript||n.*498C>T|||||1861|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding||c.*394C>T|||||1987|,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron|2/4|n.1007C>T|||||| 22 50694279 . C T . . ANN=T|synonymous_variant|LOW|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding|8/12|c.651G>A|p.Ala217Ala|967/1918|651/1104|217/367||,T|synonymous_variant|LOW|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding|6/10|c.381G>A|p.Ala127Ala|508/1459|381/834|127/277||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|3/12|c.651G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|10/12|c.651G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|6/12|c.651G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|1/12|c.651G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|8/12|c.651G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|4/12|c.651G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|9/12|c.651G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|2/12|c.651G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|11/12|c.651G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|5/12|c.651G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|7/12|c.651G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|helix|ENST00000215659|protein_coding|8/12|c.651G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|helix|ENST00000215659|protein_coding|7/12|c.651G>A||||||,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.-354G>A|||||4465|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.-230G>A|||||4589|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay||n.-48G>A|||||4771|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay||n.-1G>A|||||4818|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding||c.-209G>A|||||4610|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript||n.-1G>A|||||4608|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript||n.-1G>A|||||4484|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding||c.-1G>A|||||4818|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.-1G>A|||||4960|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.-1G>A|||||4622|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.-1G>A|||||4465|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.-1G>A|||||4445|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.-1G>A|||||4878|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript||n.*498G>A|||||1713|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding||c.*394G>A|||||1839|,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|7/26|n.711G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron|8/12|n.834G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron|7/11|n.1085G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron|2/4|n.859G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron|5/8|n.319G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron|1/4|n.304G>A|||||| 22 50694297 . A G . . ANN=G|synonymous_variant|LOW|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding|8/12|c.633T>C|p.Ser211Ser|949/1918|633/1104|211/367||,G|synonymous_variant|LOW|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding|6/10|c.363T>C|p.Ser121Ser|490/1459|363/834|121/277||,G|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|3/12|c.633T>C||||||,G|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|10/12|c.633T>C||||||,G|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|6/12|c.633T>C||||||,G|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|1/12|c.633T>C||||||,G|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|8/12|c.633T>C||||||,G|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|4/12|c.633T>C||||||,G|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|9/12|c.633T>C||||||,G|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|2/12|c.633T>C||||||,G|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|11/12|c.633T>C||||||,G|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|5/12|c.633T>C||||||,G|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|7/12|c.633T>C||||||,G|sequence_feature|LOW|MAPK12|ENSG00000188130|helix|ENST00000215659|protein_coding|8/12|c.633T>C||||||,G|sequence_feature|LOW|MAPK12|ENSG00000188130|helix|ENST00000215659|protein_coding|7/12|c.633T>C||||||,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.-354T>C|||||4483|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.-230T>C|||||4607|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay||n.-48T>C|||||4789|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay||n.-1T>C|||||4836|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding||c.-209T>C|||||4628|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript||n.-1T>C|||||4626|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript||n.-1T>C|||||4502|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding||c.-1T>C|||||4836|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.-1T>C|||||4978|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.-1T>C|||||4640|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.-1T>C|||||4483|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.-1T>C|||||4463|,G|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.-1T>C|||||4896|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript||n.*498T>C|||||1695|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding||c.*394T>C|||||1821|,G|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|7/26|n.693T>C||||||,G|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron|8/12|n.816T>C||||||,G|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron|7/11|n.1067T>C||||||,G|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron|2/4|n.841T>C||||||,G|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron|5/8|n.301T>C||||||,G|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron|1/4|n.286T>C|||||| 22 50694529 . G A . . ANN=A|missense_variant|MODERATE|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding|7/12|c.604C>T|p.Arg202Cys|920/1918|604/1104|202/367||,A|missense_variant|MODERATE|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding|5/10|c.334C>T|p.Arg112Cys|461/1459|334/834|112/277||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|3/12|c.604C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|10/12|c.604C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|6/12|c.604C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|1/12|c.604C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|8/12|c.604C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|4/12|c.604C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|9/12|c.604C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|2/12|c.604C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|11/12|c.604C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|5/12|c.604C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|7/12|c.604C>T||||||,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.-354C>T|||||4715|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.-230C>T|||||4839|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding||c.-209C>T|||||4860|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript||n.-1C>T|||||4858|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript||n.-1C>T|||||4734|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.-1C>T|||||4872|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.-1C>T|||||4715|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.-1C>T|||||4695|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript||n.*498C>T|||||1463|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding||c.*394C>T|||||1589|,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|6/26|n.664C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron|7/12|n.787C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron|6/11|n.1038C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron|2/4|n.609C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron|4/8|n.272C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron|1/4|n.54C>T|||||| 22 50694568 . G A . . ANN=A|missense_variant|MODERATE|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding|7/12|c.565C>T|p.Arg189Trp|881/1918|565/1104|189/367||,A|missense_variant|MODERATE|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding|5/10|c.295C>T|p.Arg99Trp|422/1459|295/834|99/277||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|3/12|c.565C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|10/12|c.565C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|6/12|c.565C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|1/12|c.565C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|8/12|c.565C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|4/12|c.565C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|9/12|c.565C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|2/12|c.565C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|11/12|c.565C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|5/12|c.565C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|7/12|c.565C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|helix|ENST00000215659|protein_coding|7/12|c.565C>T||||||,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.-354C>T|||||4754|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.-230C>T|||||4878|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding||c.-209C>T|||||4899|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript||n.-1C>T|||||4897|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript||n.-1C>T|||||4773|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.-1C>T|||||4911|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.-1C>T|||||4754|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.-1C>T|||||4734|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript||n.*498C>T|||||1424|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding||c.*394C>T|||||1550|,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|6/26|n.625C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron|7/12|n.748C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron|6/11|n.999C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron|2/4|n.570C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron|4/8|n.233C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron|1/4|n.15C>T|||||| 22 50694676 . G A . . ANN=A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|3/12|c.505-48C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|10/12|c.505-48C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|6/12|c.505-48C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|1/12|c.505-48C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|8/12|c.505-48C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|4/12|c.505-48C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|9/12|c.505-48C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|2/12|c.505-48C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|11/12|c.505-48C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|5/12|c.505-48C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|7/12|c.505-48C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|beta_strand|ENST00000215659|protein_coding|6/12|c.505-48C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|beta_strand|ENST00000215659|protein_coding|7/12|c.505-48C>T||||||,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.-354C>T|||||4862|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.-230C>T|||||4986|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript||n.-1C>T|||||4881|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.-1C>T|||||4862|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.-1C>T|||||4842|,A|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.-1C>T|||||94|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript||n.*498C>T|||||1316|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding||c.*394C>T|||||1442|,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding|6/11|c.505-48C>T||||||,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|5/25|n.565-48C>T||||||,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding|4/9|c.235-48C>T||||||,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron|6/11|n.688-48C>T||||||,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron|5/10|n.939-48C>T||||||,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron|1/3|n.510-48C>T||||||,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron|3/7|n.173-48C>T|||||| 22 50695045 . C T . . ANN=T|missense_variant|MODERATE|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding|6/12|c.487G>A|p.Glu163Lys|803/1918|487/1104|163/367||,T|missense_variant|MODERATE|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding|4/10|c.217G>A|p.Glu73Lys|344/1459|217/834|73/277||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|3/12|c.487G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|10/12|c.487G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|6/12|c.487G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|1/12|c.487G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|8/12|c.487G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|4/12|c.487G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|9/12|c.487G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|2/12|c.487G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|11/12|c.487G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|5/12|c.487G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|7/12|c.487G>A||||||,T|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.-1G>A|||||463|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript||n.*498G>A|||||947|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding||c.*394G>A|||||1073|,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|5/26|n.547G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron|6/12|n.670G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron|5/11|n.921G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron|1/4|n.492G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron|3/8|n.155G>A|||||| 22 50695370 . G A . . ANN=A|synonymous_variant|LOW|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding|5/12|c.450C>T|p.Ile150Ile|766/1918|450/1104|150/367||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|3/12|c.450C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|10/12|c.450C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|6/12|c.450C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|1/12|c.450C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|8/12|c.450C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|4/12|c.450C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|9/12|c.450C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|2/12|c.450C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|11/12|c.450C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|5/12|c.450C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|7/12|c.450C>T||||||,A|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.-1C>T|||||788|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript||n.*498C>T|||||622|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding||c.*394C>T|||||748|,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding|3/9|c.186+141C>T||||||,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron|2/7|n.125-295C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|4/26|n.510C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron|5/12|n.486C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron|4/11|n.737C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron|1/4|n.167C>T|||||| 22 50695379 . G A . . ANN=A|synonymous_variant|LOW|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding|5/12|c.441C>T|p.Ala147Ala|757/1918|441/1104|147/367||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|3/12|c.441C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|10/12|c.441C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|6/12|c.441C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|1/12|c.441C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|8/12|c.441C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|4/12|c.441C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|9/12|c.441C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|2/12|c.441C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|11/12|c.441C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|5/12|c.441C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|7/12|c.441C>T||||||,A|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.-1C>T|||||797|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript||n.*498C>T|||||613|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding||c.*394C>T|||||739|,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding|3/9|c.186+132C>T||||||,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron|2/7|n.125-304C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|4/26|n.501C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron|5/12|n.477C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron|4/11|n.728C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron|1/4|n.158C>T|||||| 22 50695401 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding|4/11|c.427-8C>T||||||,A|splice_region_variant&intron_variant|LOW|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|3/25|n.487-8C>T||||||,A|splice_region_variant&intron_variant|LOW|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron|4/11|n.463-8C>T||||||,A|splice_region_variant&intron_variant|LOW|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron|3/10|n.714-8C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|3/12|c.427-8C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|10/12|c.427-8C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|6/12|c.427-8C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|1/12|c.427-8C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|8/12|c.427-8C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|4/12|c.427-8C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|9/12|c.427-8C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|2/12|c.427-8C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|11/12|c.427-8C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|5/12|c.427-8C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|7/12|c.427-8C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|helix|ENST00000215659|protein_coding|4/12|c.427-8C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|helix|ENST00000215659|protein_coding|5/12|c.427-8C>T||||||,A|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.-1C>T|||||819|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript||n.*498C>T|||||591|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding||c.*394C>T|||||717|,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding|3/9|c.186+110C>T||||||,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron|2/7|n.125-326C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron|1/4|n.136C>T|||||| 22 50695412 . T G . . ANN=G|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|3/12|c.427-19A>C||||||,G|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|10/12|c.427-19A>C||||||,G|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|6/12|c.427-19A>C||||||,G|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|1/12|c.427-19A>C||||||,G|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|8/12|c.427-19A>C||||||,G|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|4/12|c.427-19A>C||||||,G|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|9/12|c.427-19A>C||||||,G|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|2/12|c.427-19A>C||||||,G|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|11/12|c.427-19A>C||||||,G|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|5/12|c.427-19A>C||||||,G|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|7/12|c.427-19A>C||||||,G|sequence_feature|LOW|MAPK12|ENSG00000188130|helix|ENST00000215659|protein_coding|4/12|c.427-19A>C||||||,G|sequence_feature|LOW|MAPK12|ENSG00000188130|helix|ENST00000215659|protein_coding|5/12|c.427-19A>C||||||,G|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.-1A>C|||||830|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript||n.*498A>C|||||580|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding||c.*394A>C|||||706|,G|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding|4/11|c.427-19A>C||||||,G|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|3/25|n.487-19A>C||||||,G|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding|3/9|c.186+99A>C||||||,G|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron|4/11|n.463-19A>C||||||,G|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron|3/10|n.714-19A>C||||||,G|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron|2/7|n.125-337A>C||||||,G|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron|1/4|n.125A>C|||||| 22 50695427 . G A . . ANN=A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|3/12|c.427-34C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|10/12|c.427-34C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|6/12|c.427-34C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|1/12|c.427-34C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|8/12|c.427-34C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|4/12|c.427-34C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|9/12|c.427-34C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|2/12|c.427-34C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|11/12|c.427-34C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|5/12|c.427-34C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|7/12|c.427-34C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|helix|ENST00000215659|protein_coding|4/12|c.427-34C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|helix|ENST00000215659|protein_coding|5/12|c.427-34C>T||||||,A|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.-1C>T|||||845|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript||n.*498C>T|||||565|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding||c.*394C>T|||||691|,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding|4/11|c.427-34C>T||||||,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|3/25|n.487-34C>T||||||,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding|3/9|c.186+84C>T||||||,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron|4/11|n.463-34C>T||||||,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron|3/10|n.714-34C>T||||||,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron|2/7|n.125-352C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron|1/4|n.110C>T|||||| 22 50695439 . A T . . ANN=T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|3/12|c.427-46T>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|10/12|c.427-46T>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|6/12|c.427-46T>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|1/12|c.427-46T>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|8/12|c.427-46T>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|4/12|c.427-46T>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|9/12|c.427-46T>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|2/12|c.427-46T>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|11/12|c.427-46T>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|5/12|c.427-46T>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|7/12|c.427-46T>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|helix|ENST00000215659|protein_coding|4/12|c.427-46T>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|helix|ENST00000215659|protein_coding|5/12|c.427-46T>A||||||,T|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.-1T>A|||||857|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript||n.*498T>A|||||553|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding||c.*394T>A|||||679|,T|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding|4/11|c.427-46T>A||||||,T|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|3/25|n.487-46T>A||||||,T|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding|3/9|c.186+72T>A||||||,T|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron|4/11|n.463-46T>A||||||,T|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron|3/10|n.714-46T>A||||||,T|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron|2/7|n.125-364T>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron|1/4|n.98T>A|||||| 22 50695488 . G A . . ANN=A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|3/12|c.426+23C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|10/12|c.426+23C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|6/12|c.426+23C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|1/12|c.426+23C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|8/12|c.426+23C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|4/12|c.426+23C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|9/12|c.426+23C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|2/12|c.426+23C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|11/12|c.426+23C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|5/12|c.426+23C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|7/12|c.426+23C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|helix|ENST00000215659|protein_coding|4/12|c.426+23C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|helix|ENST00000215659|protein_coding|5/12|c.426+23C>T||||||,A|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.-1C>T|||||906|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript||n.*498C>T|||||504|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding||c.*394C>T|||||630|,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding|4/11|c.426+23C>T||||||,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|3/25|n.486+23C>T||||||,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding|3/9|c.186+23C>T||||||,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron|4/11|n.462+23C>T||||||,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron|3/10|n.713+23C>T||||||,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron|2/7|n.125-413C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron|1/4|n.49C>T|||||| 22 50695500 . G A . . ANN=A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|3/12|c.426+11C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|10/12|c.426+11C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|6/12|c.426+11C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|1/12|c.426+11C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|8/12|c.426+11C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|4/12|c.426+11C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|9/12|c.426+11C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|2/12|c.426+11C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|11/12|c.426+11C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|5/12|c.426+11C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|7/12|c.426+11C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|helix|ENST00000215659|protein_coding|4/12|c.426+11C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|helix|ENST00000215659|protein_coding|5/12|c.426+11C>T||||||,A|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.-1C>T|||||918|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript||n.*498C>T|||||492|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding||c.*394C>T|||||618|,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding|4/11|c.426+11C>T||||||,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|3/25|n.486+11C>T||||||,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding|3/9|c.186+11C>T||||||,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron|4/11|n.462+11C>T||||||,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron|3/10|n.713+11C>T||||||,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron|2/7|n.125-425C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron|1/4|n.37C>T|||||| 22 50695503 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding|4/11|c.426+8C>T||||||,A|splice_region_variant&intron_variant|LOW|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|3/25|n.486+8C>T||||||,A|splice_region_variant&intron_variant|LOW|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding|3/9|c.186+8C>T||||||,A|splice_region_variant&intron_variant|LOW|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron|4/11|n.462+8C>T||||||,A|splice_region_variant&intron_variant|LOW|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron|3/10|n.713+8C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|3/12|c.426+8C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|10/12|c.426+8C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|6/12|c.426+8C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|1/12|c.426+8C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|8/12|c.426+8C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|4/12|c.426+8C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|9/12|c.426+8C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|2/12|c.426+8C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|11/12|c.426+8C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|5/12|c.426+8C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|7/12|c.426+8C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|helix|ENST00000215659|protein_coding|4/12|c.426+8C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|helix|ENST00000215659|protein_coding|5/12|c.426+8C>T||||||,A|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.-1C>T|||||921|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript||n.*498C>T|||||489|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding||c.*394C>T|||||615|,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron|2/7|n.125-428C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron|1/4|n.34C>T|||||| 22 50695506 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding|4/11|c.426+5G>A||||||,T|splice_region_variant&intron_variant|LOW|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|3/25|n.486+5G>A||||||,T|splice_region_variant&intron_variant|LOW|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding|3/9|c.186+5G>A||||||,T|splice_region_variant&intron_variant|LOW|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron|4/11|n.462+5G>A||||||,T|splice_region_variant&intron_variant|LOW|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron|3/10|n.713+5G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|3/12|c.426+5G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|10/12|c.426+5G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|6/12|c.426+5G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|1/12|c.426+5G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|8/12|c.426+5G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|4/12|c.426+5G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|9/12|c.426+5G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|2/12|c.426+5G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|11/12|c.426+5G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|5/12|c.426+5G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|7/12|c.426+5G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|helix|ENST00000215659|protein_coding|4/12|c.426+5G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|helix|ENST00000215659|protein_coding|5/12|c.426+5G>A||||||,T|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.-1G>A|||||924|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript||n.*498G>A|||||486|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding||c.*394G>A|||||612|,T|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron|2/7|n.125-431G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron|1/4|n.31G>A|||||| 22 50695586 . G T . . ANN=T|synonymous_variant|LOW|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding|4/12|c.351C>A|p.Gly117Gly|667/1918|351/1104|117/367||,T|synonymous_variant|LOW|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding|3/10|c.111C>A|p.Gly37Gly|238/1459|111/834|37/277||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|3/12|c.351C>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|10/12|c.351C>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|6/12|c.351C>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|1/12|c.351C>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|8/12|c.351C>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|4/12|c.351C>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|9/12|c.351C>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|2/12|c.351C>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|11/12|c.351C>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|5/12|c.351C>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|7/12|c.351C>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|helix|ENST00000215659|protein_coding|4/12|c.351C>A||||||,T|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.-1C>A|||||50|,T|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.-1C>A|||||1004|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript||n.*498C>A|||||406|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding||c.*394C>A|||||532|,T|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron|2/7|n.125-511C>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|3/26|n.411C>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron|4/12|n.387C>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron|3/11|n.638C>A|||||| 22 50695593 . T A . . ANN=A|missense_variant|MODERATE|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding|4/12|c.344A>T|p.Asp115Val|660/1918|344/1104|115/367||,A|missense_variant|MODERATE|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding|3/10|c.104A>T|p.Asp35Val|231/1459|104/834|35/277||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|3/12|c.344A>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|10/12|c.344A>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|6/12|c.344A>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|1/12|c.344A>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|8/12|c.344A>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|4/12|c.344A>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|9/12|c.344A>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|2/12|c.344A>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|11/12|c.344A>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|5/12|c.344A>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|7/12|c.344A>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|beta_strand|ENST00000215659|protein_coding|4/12|c.344A>T||||||,A|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.-1A>T|||||57|,A|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.-1A>T|||||1011|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript||n.*498A>T|||||399|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding||c.*394A>T|||||525|,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron|2/7|n.125-518A>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|3/26|n.404A>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron|4/12|n.380A>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron|3/11|n.631A>T|||||| 22 50695651 . G A . . ANN=A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|3/12|c.315-29C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|10/12|c.315-29C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|6/12|c.315-29C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|1/12|c.315-29C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|8/12|c.315-29C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|4/12|c.315-29C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|9/12|c.315-29C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|2/12|c.315-29C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|11/12|c.315-29C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|5/12|c.315-29C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|7/12|c.315-29C>T||||||,A|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.-1C>T|||||115|,A|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.-1C>T|||||1069|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript||n.*498C>T|||||341|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding||c.*394C>T|||||467|,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding|3/11|c.315-29C>T||||||,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|2/25|n.375-29C>T||||||,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding|2/9|c.75-29C>T||||||,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron|3/11|n.351-29C>T||||||,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron|2/10|n.602-29C>T||||||,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron|2/7|n.125-576C>T|||||| 22 50696623 . G A . . ANN=A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|3/12|c.314+49C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|10/12|c.314+49C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|6/12|c.314+49C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|1/12|c.314+49C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|8/12|c.314+49C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|4/12|c.314+49C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|9/12|c.314+49C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|2/12|c.314+49C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|11/12|c.314+49C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|5/12|c.314+49C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|7/12|c.314+49C>T||||||,A|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.-1C>T|||||1087|,A|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.-1C>T|||||2041|,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding|3/11|c.314+49C>T||||||,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|2/25|n.374+49C>T||||||,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding|2/9|c.74+49C>T||||||,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron|3/11|n.350+49C>T||||||,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron|2/10|n.601+49C>T||||||,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron|2/7|n.124+49C>T||||||,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript|2/2|n.400+49C>T||||||,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding|3/3|c.314+49C>T|||||| 22 50696639 . C T . . ANN=T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|3/12|c.314+33G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|10/12|c.314+33G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|6/12|c.314+33G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|1/12|c.314+33G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|8/12|c.314+33G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|4/12|c.314+33G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|9/12|c.314+33G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|2/12|c.314+33G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|11/12|c.314+33G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|5/12|c.314+33G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|7/12|c.314+33G>A||||||,T|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.-1G>A|||||1103|,T|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.-1G>A|||||2057|,T|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding|3/11|c.314+33G>A||||||,T|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|2/25|n.374+33G>A||||||,T|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding|2/9|c.74+33G>A||||||,T|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron|3/11|n.350+33G>A||||||,T|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron|2/10|n.601+33G>A||||||,T|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron|2/7|n.124+33G>A||||||,T|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript|2/2|n.400+33G>A||||||,T|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding|3/3|c.314+33G>A|||||| 22 50696644 . C T . . ANN=T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|3/12|c.314+28G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|10/12|c.314+28G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|6/12|c.314+28G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|1/12|c.314+28G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|8/12|c.314+28G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|4/12|c.314+28G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|9/12|c.314+28G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|2/12|c.314+28G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|11/12|c.314+28G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|5/12|c.314+28G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|7/12|c.314+28G>A||||||,T|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.-1G>A|||||1108|,T|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.-1G>A|||||2062|,T|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding|3/11|c.314+28G>A||||||,T|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|2/25|n.374+28G>A||||||,T|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding|2/9|c.74+28G>A||||||,T|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron|3/11|n.350+28G>A||||||,T|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron|2/10|n.601+28G>A||||||,T|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron|2/7|n.124+28G>A||||||,T|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript|2/2|n.400+28G>A||||||,T|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding|3/3|c.314+28G>A|||||| 22 50696648 . C T . . ANN=T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|3/12|c.314+24G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|10/12|c.314+24G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|6/12|c.314+24G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|1/12|c.314+24G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|8/12|c.314+24G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|4/12|c.314+24G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|9/12|c.314+24G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|2/12|c.314+24G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|11/12|c.314+24G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|5/12|c.314+24G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|7/12|c.314+24G>A||||||,T|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.-1G>A|||||1112|,T|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.-1G>A|||||2066|,T|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding|3/11|c.314+24G>A||||||,T|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|2/25|n.374+24G>A||||||,T|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding|2/9|c.74+24G>A||||||,T|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron|3/11|n.350+24G>A||||||,T|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron|2/10|n.601+24G>A||||||,T|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron|2/7|n.124+24G>A||||||,T|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript|2/2|n.400+24G>A||||||,T|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding|3/3|c.314+24G>A|||||| 22 50696662 . C T . . ANN=T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|3/12|c.314+10G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|10/12|c.314+10G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|6/12|c.314+10G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|1/12|c.314+10G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|8/12|c.314+10G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|4/12|c.314+10G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|9/12|c.314+10G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|2/12|c.314+10G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|11/12|c.314+10G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|5/12|c.314+10G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|7/12|c.314+10G>A||||||,T|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.-1G>A|||||1126|,T|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.-1G>A|||||2080|,T|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding|3/11|c.314+10G>A||||||,T|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|2/25|n.374+10G>A||||||,T|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding|2/9|c.74+10G>A||||||,T|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron|3/11|n.350+10G>A||||||,T|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron|2/10|n.601+10G>A||||||,T|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron|2/7|n.124+10G>A||||||,T|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript|2/2|n.400+10G>A||||||,T|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding|3/3|c.314+10G>A|||||| 22 50696678 . G A . . ANN=A|missense_variant|MODERATE|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding|3/12|c.308C>T|p.Thr103Met|624/1918|308/1104|103/367||,A|missense_variant|MODERATE|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding|2/10|c.68C>T|p.Thr23Met|195/1459|68/834|23/277||,A|missense_variant|MODERATE|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding|3/4|c.308C>T|p.Thr103Met|342/605|308/360|103/119||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|3/12|c.308C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|10/12|c.308C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|6/12|c.308C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|1/12|c.308C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|8/12|c.308C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|4/12|c.308C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|9/12|c.308C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|2/12|c.308C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|11/12|c.308C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|5/12|c.308C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|7/12|c.308C>T||||||,A|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.-1C>T|||||1142|,A|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.-1C>T|||||2096|,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|2/26|n.368C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron|3/12|n.344C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron|2/11|n.595C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron|2/8|n.118C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript|2/3|n.394C>T|||||| 22 50699625 . G A . . ANN=A|missense_variant|MODERATE|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding|2/12|c.226C>T|p.Arg76Cys|542/1918|226/1104|76/367||,A|missense_variant|MODERATE|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding|2/4|c.226C>T|p.Arg76Cys|260/605|226/360|76/119||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|3/12|c.226C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|10/12|c.226C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|6/12|c.226C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|1/12|c.226C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|8/12|c.226C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|4/12|c.226C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|9/12|c.226C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|2/12|c.226C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|11/12|c.226C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|5/12|c.226C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|7/12|c.226C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|helix|ENST00000215659|protein_coding|2/12|c.226C>T||||||,A|5_prime_UTR_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding|1/10|c.-15C>T|||||15|,A|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript||n.-1C>T|||||53|,A|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.-1C>T|||||4089|,A|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript||n.-1C>T|||||27|,A|downstream_gene_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000330651|protein_coding||c.*1196C>T|||||2517|,A|downstream_gene_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000395764|nonsense_mediated_decay||n.*1196C>T|||||2519|,A|downstream_gene_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000417877|nonsense_mediated_decay||n.*593C>T|||||2543|,A|downstream_gene_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000449719|protein_coding||c.*979C>T|||||4953|,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron|2/12|n.262C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron|1/11|n.513C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron|1/8|n.36C>T|||||| 22 50699668 . A G . . ANN=G|synonymous_variant|LOW|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding|2/12|c.183T>C|p.Pro61Pro|499/1918|183/1104|61/367||,G|synonymous_variant|LOW|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding|2/4|c.183T>C|p.Pro61Pro|217/605|183/360|61/119||,G|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|3/12|c.183T>C||||||,G|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|10/12|c.183T>C||||||,G|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|6/12|c.183T>C||||||,G|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|1/12|c.183T>C||||||,G|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|8/12|c.183T>C||||||,G|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|4/12|c.183T>C||||||,G|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|9/12|c.183T>C||||||,G|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|2/12|c.183T>C||||||,G|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|11/12|c.183T>C||||||,G|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|5/12|c.183T>C||||||,G|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|7/12|c.183T>C||||||,G|5_prime_UTR_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding|1/10|c.-58T>C|||||58|,G|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript||n.-1T>C|||||96|,G|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.-1T>C|||||4132|,G|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron||n.-1T>C|||||8|,G|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript||n.-1T>C|||||70|,G|downstream_gene_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000330651|protein_coding||c.*1196T>C|||||2474|,G|downstream_gene_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000395764|nonsense_mediated_decay||n.*1196T>C|||||2476|,G|downstream_gene_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000417877|nonsense_mediated_decay||n.*593T>C|||||2500|,G|downstream_gene_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000449719|protein_coding||c.*979T>C|||||4910|,G|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron|2/12|n.219T>C||||||,G|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron|1/11|n.470T>C|||||| 22 50703501 . G A . . ANN=A|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.-317C>T|||||3247|,A|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript||n.-1C>T|||||3929|,A|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.-128C>T|||||3764|,A|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.-1C>T|||||3527|,A|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.-1C>T|||||3364|,A|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron||n.-1C>T|||||3841|,A|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript||n.-1C>T|||||3903|,A|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding||c.-35C>T|||||3529|,A|downstream_gene_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000449719|protein_coding||c.*979C>T|||||1077|,A|downstream_gene_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000495277|processed_transcript||n.*566C>T|||||2066|,A|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000330651|protein_coding|11/11|c.1016-45C>T||||||,A|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000395764|nonsense_mediated_decay|11/12|n.1016-45C>T||||||,A|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000417877|nonsense_mediated_decay|11/11|n.*528-45C>T|||||| 22 50703710 . G A . . ANN=A|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.-317C>T|||||3456|,A|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript||n.-1C>T|||||4138|,A|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.-128C>T|||||3973|,A|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.-1C>T|||||3736|,A|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.-1C>T|||||3573|,A|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron||n.-1C>T|||||4050|,A|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript||n.-1C>T|||||4112|,A|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding||c.-35C>T|||||3738|,A|downstream_gene_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000449719|protein_coding||c.*979C>T|||||868|,A|downstream_gene_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000495277|processed_transcript||n.*566C>T|||||1857|,A|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000330651|protein_coding|11/11|c.1015+40C>T||||||,A|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000395764|nonsense_mediated_decay|11/12|n.1015+40C>T||||||,A|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000417877|nonsense_mediated_decay|11/11|n.*527+40C>T|||||| 22 50703960 . G A . . ANN=A|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.-317C>T|||||3706|,A|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript||n.-1C>T|||||4388|,A|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.-128C>T|||||4223|,A|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.-1C>T|||||3986|,A|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.-1C>T|||||3823|,A|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron||n.-1C>T|||||4300|,A|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript||n.-1C>T|||||4362|,A|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding||c.-35C>T|||||3988|,A|downstream_gene_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000449719|protein_coding||c.*979C>T|||||618|,A|downstream_gene_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000495277|processed_transcript||n.*566C>T|||||1607|,A|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000330651|protein_coding|10/11|c.842-37C>T||||||,A|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000395764|nonsense_mediated_decay|10/12|n.842-37C>T||||||,A|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000417877|nonsense_mediated_decay|10/11|n.*354-37C>T|||||| 22 50704028 . C T . . ANN=T|missense_variant|MODERATE|MAPK11|ENSG00000185386|transcript|ENST00000330651|protein_coding|10/12|c.824G>A|p.Arg275His|925/2431|824/1095|275/364||,T|3_prime_UTR_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000417877|nonsense_mediated_decay|10/12|n.*336G>A|||||1535|,T|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.-317G>A|||||3774|,T|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript||n.-1G>A|||||4456|,T|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.-128G>A|||||4291|,T|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.-1G>A|||||4054|,T|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.-1G>A|||||3891|,T|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron||n.-1G>A|||||4368|,T|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript||n.-1G>A|||||4430|,T|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding||c.-35G>A|||||4056|,T|downstream_gene_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000449719|protein_coding||c.*979G>A|||||550|,T|downstream_gene_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000495277|processed_transcript||n.*566G>A|||||1539|,T|non_coding_exon_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000395764|nonsense_mediated_decay|10/13|n.824G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000417877|nonsense_mediated_decay|10/12|n.*336G>A|||||| 22 50704075 . G C . . ANN=C|missense_variant|MODERATE|MAPK11|ENSG00000185386|transcript|ENST00000330651|protein_coding|10/12|c.777C>G|p.Ile259Met|878/2431|777/1095|259/364||,C|3_prime_UTR_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000417877|nonsense_mediated_decay|10/12|n.*289C>G|||||1488|,C|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.-317C>G|||||3821|,C|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript||n.-1C>G|||||4503|,C|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.-128C>G|||||4338|,C|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.-1C>G|||||4101|,C|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.-1C>G|||||3938|,C|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron||n.-1C>G|||||4415|,C|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript||n.-1C>G|||||4477|,C|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding||c.-35C>G|||||4103|,C|downstream_gene_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000449719|protein_coding||c.*979C>G|||||503|,C|downstream_gene_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000495277|processed_transcript||n.*566C>G|||||1492|,C|non_coding_exon_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000395764|nonsense_mediated_decay|10/13|n.777C>G||||||,C|non_coding_exon_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000417877|nonsense_mediated_decay|10/12|n.*289C>G|||||| 22 50704655 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|MAPK11|ENSG00000185386|transcript|ENST00000330651|protein_coding|9/12|c.762C>T|p.His254His|863/2431|762/1095|254/364||,A|splice_region_variant&non_coding_exon_variant|LOW|MAPK11|ENSG00000185386|transcript|ENST00000395764|nonsense_mediated_decay|9/13|n.762C>T||||||,A|splice_region_variant&non_coding_exon_variant|LOW|MAPK11|ENSG00000185386|transcript|ENST00000417877|nonsense_mediated_decay|9/12|n.*274C>T||||||,A|3_prime_UTR_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000417877|nonsense_mediated_decay|9/12|n.*274C>T|||||908|,A|3_prime_UTR_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000449719|protein_coding|6/6|c.*352C>T|||||352|,A|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.-317C>T|||||4401|,A|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.-128C>T|||||4918|,A|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.-1C>T|||||4681|,A|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.-1C>T|||||4518|,A|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron||n.-1C>T|||||4995|,A|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding||c.-35C>T|||||4683|,A|downstream_gene_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000495277|processed_transcript||n.*566C>T|||||912| 22 50704661 . T C . . ANN=C|synonymous_variant|LOW|MAPK11|ENSG00000185386|transcript|ENST00000330651|protein_coding|9/12|c.756A>G|p.Ser252Ser|857/2431|756/1095|252/364||,C|3_prime_UTR_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000417877|nonsense_mediated_decay|9/12|n.*268A>G|||||902|,C|3_prime_UTR_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000449719|protein_coding|6/6|c.*346A>G|||||346|,C|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.-317A>G|||||4407|,C|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.-128A>G|||||4924|,C|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.-1A>G|||||4687|,C|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.-1A>G|||||4524|,C|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding||c.-35A>G|||||4689|,C|downstream_gene_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000495277|processed_transcript||n.*566A>G|||||906|,C|non_coding_exon_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000395764|nonsense_mediated_decay|9/13|n.756A>G||||||,C|non_coding_exon_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000417877|nonsense_mediated_decay|9/12|n.*268A>G|||||| 22 50704951 . A C . . ANN=C|3_prime_UTR_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000449719|protein_coding|6/6|c.*56T>G|||||56|,C|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.-317T>G|||||4697|,C|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.-1T>G|||||4977|,C|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.-1T>G|||||4814|,C|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding||c.-35T>G|||||4979|,C|downstream_gene_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000495277|processed_transcript||n.*566T>G|||||616|,C|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000330651|protein_coding|8/11|c.682+18T>G||||||,C|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000395764|nonsense_mediated_decay|8/12|n.682+18T>G||||||,C|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000417877|nonsense_mediated_decay|8/11|n.*194+18T>G|||||| 22 50704979 . C T . . ANN=T|synonymous_variant|LOW|MAPK11|ENSG00000185386|transcript|ENST00000330651|protein_coding|8/12|c.672G>A|p.Pro224Pro|773/2431|672/1095|224/364||,T|3_prime_UTR_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000417877|nonsense_mediated_decay|8/12|n.*184G>A|||||584|,T|3_prime_UTR_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000449719|protein_coding|6/6|c.*28G>A|||||28|,T|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.-317G>A|||||4725|,T|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.-1G>A|||||4842|,T|downstream_gene_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000495277|processed_transcript||n.*566G>A|||||588|,T|non_coding_exon_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000395764|nonsense_mediated_decay|8/13|n.672G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000417877|nonsense_mediated_decay|8/12|n.*184G>A|||||| 22 50705059 . A G . . ANN=G|missense_variant|MODERATE|MAPK11|ENSG00000185386|transcript|ENST00000449719|protein_coding|6/6|c.590T>C|p.Val197Ala|927/1408|590/642|197/213||,G|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.-317T>C|||||4805|,G|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.-1T>C|||||4922|,G|downstream_gene_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000495277|processed_transcript||n.*566T>C|||||508|,G|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000330651|protein_coding|7/11|c.611-19T>C||||||,G|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000395764|nonsense_mediated_decay|7/12|n.611-19T>C||||||,G|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000417877|nonsense_mediated_decay|7/11|n.*123-19T>C|||||| 22 50705060 . C T . . ANN=T|missense_variant|MODERATE|MAPK11|ENSG00000185386|transcript|ENST00000449719|protein_coding|6/6|c.589G>A|p.Val197Ile|926/1408|589/642|197/213||,T|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.-317G>A|||||4806|,T|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.-1G>A|||||4923|,T|downstream_gene_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000495277|processed_transcript||n.*566G>A|||||507|,T|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000330651|protein_coding|7/11|c.611-20G>A||||||,T|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000395764|nonsense_mediated_decay|7/12|n.611-20G>A||||||,T|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000417877|nonsense_mediated_decay|7/11|n.*123-20G>A|||||| 22 50705442 . C G . . ANN=G|missense_variant|MODERATE|MAPK11|ENSG00000185386|transcript|ENST00000330651|protein_coding|7/12|c.531G>C|p.Glu177Asp|632/2431|531/1095|177/364||,G|missense_variant|MODERATE|MAPK11|ENSG00000185386|transcript|ENST00000449719|protein_coding|6/6|c.207G>C|p.Glu69Asp|544/1408|207/642|69/213||,G|3_prime_UTR_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000417877|nonsense_mediated_decay|7/12|n.*43G>C|||||121|,G|downstream_gene_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000495277|processed_transcript||n.*566G>C|||||125|,G|non_coding_exon_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000395764|nonsense_mediated_decay|7/13|n.531G>C||||||,G|non_coding_exon_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000417877|nonsense_mediated_decay|7/12|n.*43G>C|||||| 22 50705466 . A G . . ANN=G|synonymous_variant|LOW|MAPK11|ENSG00000185386|transcript|ENST00000330651|protein_coding|7/12|c.507T>C|p.Phe169Phe|608/2431|507/1095|169/364||,G|synonymous_variant|LOW|MAPK11|ENSG00000185386|transcript|ENST00000449719|protein_coding|6/6|c.183T>C|p.Phe61Phe|520/1408|183/642|61/213||,G|sequence_feature|LOW|MAPK11|ENSG00000185386|region_of_interest:Inhibitor-binding|ENST00000449719|protein_coding|6/6|c.183T>C||||||,G|3_prime_UTR_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000417877|nonsense_mediated_decay|7/12|n.*19T>C|||||97|,G|downstream_gene_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000495277|processed_transcript||n.*566T>C|||||101|,G|non_coding_exon_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000395764|nonsense_mediated_decay|7/13|n.507T>C||||||,G|non_coding_exon_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000417877|nonsense_mediated_decay|7/12|n.*19T>C|||||| 22 50705517 . T G . . ANN=G|sequence_feature|LOW|MAPK11|ENSG00000185386|beta_strand|ENST00000449719|protein_coding|6/6|c.171+39A>C||||||,G|sequence_feature|LOW|MAPK11|ENSG00000185386|beta_strand|ENST00000449719|protein_coding|5/6|c.171+39A>C||||||,G|downstream_gene_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000495277|processed_transcript||n.*566A>C|||||50|,G|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000330651|protein_coding|6/11|c.495+39A>C||||||,G|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000395764|nonsense_mediated_decay|6/12|n.495+39A>C||||||,G|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000417877|nonsense_mediated_decay|6/11|n.*7+39A>C||||||,G|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000449719|protein_coding|5/5|c.171+39A>C|||||| 22 50705528 . C T . . ANN=T|sequence_feature|LOW|MAPK11|ENSG00000185386|beta_strand|ENST00000449719|protein_coding|6/6|c.171+28G>A||||||,T|sequence_feature|LOW|MAPK11|ENSG00000185386|beta_strand|ENST00000449719|protein_coding|5/6|c.171+28G>A||||||,T|downstream_gene_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000495277|processed_transcript||n.*566G>A|||||39|,T|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000330651|protein_coding|6/11|c.495+28G>A||||||,T|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000395764|nonsense_mediated_decay|6/12|n.495+28G>A||||||,T|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000417877|nonsense_mediated_decay|6/11|n.*7+28G>A||||||,T|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000449719|protein_coding|5/5|c.171+28G>A|||||| 22 50705546 . C T . . ANN=T|sequence_feature|LOW|MAPK11|ENSG00000185386|beta_strand|ENST00000449719|protein_coding|6/6|c.171+10G>A||||||,T|sequence_feature|LOW|MAPK11|ENSG00000185386|beta_strand|ENST00000449719|protein_coding|5/6|c.171+10G>A||||||,T|downstream_gene_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000495277|processed_transcript||n.*566G>A|||||21|,T|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000330651|protein_coding|6/11|c.495+10G>A||||||,T|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000395764|nonsense_mediated_decay|6/12|n.495+10G>A||||||,T|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000417877|nonsense_mediated_decay|6/11|n.*7+10G>A||||||,T|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000449719|protein_coding|5/5|c.171+10G>A|||||| 22 50705547 . G C . . ANN=C|sequence_feature|LOW|MAPK11|ENSG00000185386|beta_strand|ENST00000449719|protein_coding|6/6|c.171+9C>G||||||,C|sequence_feature|LOW|MAPK11|ENSG00000185386|beta_strand|ENST00000449719|protein_coding|5/6|c.171+9C>G||||||,C|downstream_gene_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000495277|processed_transcript||n.*566C>G|||||20|,C|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000330651|protein_coding|6/11|c.495+9C>G||||||,C|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000395764|nonsense_mediated_decay|6/12|n.495+9C>G||||||,C|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000417877|nonsense_mediated_decay|6/11|n.*7+9C>G||||||,C|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000449719|protein_coding|5/5|c.171+9C>G|||||| 22 50705749 . C T . . ANN=T|sequence_feature|LOW|MAPK11|ENSG00000185386|helix|ENST00000449719|protein_coding|4/6|c.94-34G>A||||||,T|sequence_feature|LOW|MAPK11|ENSG00000185386|helix|ENST00000449719|protein_coding|3/6|c.94-34G>A||||||,T|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000330651|protein_coding|4/11|c.418-34G>A||||||,T|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000395764|nonsense_mediated_decay|4/12|n.418-34G>A||||||,T|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000417877|nonsense_mediated_decay|4/11|n.418-34G>A||||||,T|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000449719|protein_coding|3/5|c.94-34G>A||||||,T|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000495277|processed_transcript|3/3|n.418-34G>A|||||| 22 50705764 . C G . . ANN=G|sequence_feature|LOW|MAPK11|ENSG00000185386|helix|ENST00000449719|protein_coding|4/6|c.93+36G>C||||||,G|sequence_feature|LOW|MAPK11|ENSG00000185386|helix|ENST00000449719|protein_coding|3/6|c.93+36G>C||||||,G|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000330651|protein_coding|4/11|c.417+36G>C||||||,G|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000395764|nonsense_mediated_decay|4/12|n.417+36G>C||||||,G|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000417877|nonsense_mediated_decay|4/11|n.417+36G>C||||||,G|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000449719|protein_coding|3/5|c.93+36G>C||||||,G|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000495277|processed_transcript|3/3|n.417+36G>C|||||| 22 50705821 . G A . . ANN=A|synonymous_variant|LOW|MAPK11|ENSG00000185386|transcript|ENST00000330651|protein_coding|4/12|c.396C>T|p.Tyr132Tyr|497/2431|396/1095|132/364||,A|synonymous_variant|LOW|MAPK11|ENSG00000185386|transcript|ENST00000449719|protein_coding|3/6|c.72C>T|p.Tyr24Tyr|409/1408|72/642|24/213||,A|sequence_feature|LOW|MAPK11|ENSG00000185386|helix|ENST00000449719|protein_coding|4/6|c.72C>T||||||,A|sequence_feature|LOW|MAPK11|ENSG00000185386|helix|ENST00000449719|protein_coding|3/6|c.72C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000395764|nonsense_mediated_decay|4/13|n.396C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000417877|nonsense_mediated_decay|4/12|n.396C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000495277|processed_transcript|3/4|n.396C>T|||||| 22 50705921 . G A . . ANN=A|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000330651|protein_coding|3/11|c.306-10C>T||||||,A|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000395764|nonsense_mediated_decay|3/12|n.306-10C>T||||||,A|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000417877|nonsense_mediated_decay|3/11|n.306-10C>T||||||,A|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000449719|protein_coding|2/5|c.-19-10C>T||||||,A|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000495277|processed_transcript|2/3|n.306-10C>T|||||| 22 50705947 . C T . . ANN=T|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000330651|protein_coding|3/11|c.306-36G>A||||||,T|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000395764|nonsense_mediated_decay|3/12|n.306-36G>A||||||,T|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000417877|nonsense_mediated_decay|3/11|n.306-36G>A||||||,T|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000449719|protein_coding|2/5|c.-19-36G>A||||||,T|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000495277|processed_transcript|2/3|n.306-36G>A|||||| 22 50706381 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|MAPK11|ENSG00000185386|transcript|ENST00000330651|protein_coding|1/11|c.117-3C>T||||||,A|splice_region_variant&intron_variant|LOW|MAPK11|ENSG00000185386|transcript|ENST00000395764|nonsense_mediated_decay|1/12|n.117-3C>T||||||,A|splice_region_variant&intron_variant|LOW|MAPK11|ENSG00000185386|transcript|ENST00000417877|nonsense_mediated_decay|1/11|n.117-3C>T||||||,A|splice_region_variant&intron_variant|LOW|MAPK11|ENSG00000185386|transcript|ENST00000449719|protein_coding|1/5|c.-149-3C>T||||||,A|splice_region_variant&intron_variant|LOW|MAPK11|ENSG00000185386|transcript|ENST00000495277|processed_transcript|1/3|n.176-3C>T|||||| 22 50708594 . C T . . ANN=T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding||c.*5626G>A|||||4814|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.*1916G>A|||||4814|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.*3504G>A|||||4814|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding||c.*5658G>A|||||4814|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.*3038G>A|||||4820|,T|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000330651|protein_coding|1/11|c.116+12G>A||||||,T|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000395764|nonsense_mediated_decay|1/12|n.116+12G>A||||||,T|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000417877|nonsense_mediated_decay|1/11|n.116+12G>A||||||,T|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000449719|protein_coding|1/5|c.-150+12G>A||||||,T|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000495277|processed_transcript|1/3|n.175+428G>A|||||| 22 50708731 . A G . . ANN=G|5_prime_UTR_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000330651|protein_coding|1/12|c.-10T>C|||||10|,G|5_prime_UTR_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000395764|nonsense_mediated_decay|1/13|n.-10T>C|||||10|,G|5_prime_UTR_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000417877|nonsense_mediated_decay|1/12|n.-10T>C|||||10|,G|5_prime_UTR_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000449719|protein_coding|1/6|c.-275T>C|||||2839|,G|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding||c.*5626T>C|||||4677|,G|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.*1916T>C|||||4677|,G|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.*3504T>C|||||4677|,G|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding||c.*5658T>C|||||4677|,G|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.*3038T>C|||||4683|,G|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000495277|processed_transcript|1/3|n.175+291T>C||||||,G|non_coding_exon_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000395764|nonsense_mediated_decay|1/13|n.-10T>C||||||,G|non_coding_exon_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000417877|nonsense_mediated_decay|1/12|n.-10T>C|||||| 22 50714211 . A G . . ANN=G|missense_variant|MODERATE|AL022328.1|ENSG00000268427|transcript|ENST00000595015|protein_coding|1/2|c.109A>G|p.Arg37Gly|109/168|109/168|37/55||WARNING_TRANSCRIPT_NO_STOP_CODON,G|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|37/37|c.5439T>C|p.Pro1813Pro|5548/6351|5439/5517|1813/1838||,G|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|37/37|c.5439T>C|p.Pro1813Pro|5580/6383|5439/5517|1813/1838||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.5439T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.5439T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.5439T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.5439T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.5439T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.5439T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.5439T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.5439T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.5439T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.5439T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.5439T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.5439T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.5439T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.5439T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.5439T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.5439T>C||||||,G|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding||c.*704T>C|||||2071|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron|8/8|n.1113T>C||||||,G|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|19/19|n.2701T>C||||||,G|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|17/17|n.2241T>C|||||| 22 50714244 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|36/36|c.5413-7C>T||||||,A|splice_region_variant&intron_variant|LOW|AL022328.1|ENSG00000268427|transcript|ENST00000595015|protein_coding|1/1|c.135+7G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|splice_region_variant&intron_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron|7/7|n.1087-7C>T||||||,A|splice_region_variant&intron_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|18/18|n.2675-7C>T||||||,A|splice_region_variant&intron_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|36/36|c.5413-7C>T||||||,A|splice_region_variant&intron_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|16/16|n.2215-7C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.5413-7C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.5413-7C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.5413-7C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.5413-7C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.5413-7C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.5413-7C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.5413-7C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.5413-7C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.5413-7C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.5413-7C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.5413-7C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.5413-7C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.5413-7C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.5413-7C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.5413-7C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.5413-7C>T||||||,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding||c.*704C>T|||||2038|WARNING_TRANSCRIPT_INCOMPLETE 22 50714250 . C T . . ANN=T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.5413-13G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.5413-13G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.5413-13G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.5413-13G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.5413-13G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.5413-13G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.5413-13G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.5413-13G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.5413-13G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.5413-13G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.5413-13G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.5413-13G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.5413-13G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.5413-13G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.5413-13G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.5413-13G>A||||||,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding||c.*704G>A|||||2032|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|36/36|c.5413-13G>A||||||,T|intron_variant|MODIFIER|AL022328.1|ENSG00000268427|transcript|ENST00000595015|protein_coding|1/1|c.135+13C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron|7/7|n.1087-13G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|18/18|n.2675-13G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|36/36|c.5413-13G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|16/16|n.2215-13G>A|||||| 22 50714289 . T C . . ANN=C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.5412+29A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.5412+29A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.5412+29A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.5412+29A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.5412+29A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.5412+29A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.5412+29A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.5412+29A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.5412+29A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.5412+29A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.5412+29A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.5412+29A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.5412+29A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.5412+29A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.5412+29A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.5412+29A>G||||||,C|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding||c.*704A>G|||||1993|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|36/36|c.5412+29A>G||||||,C|intron_variant|MODIFIER|AL022328.1|ENSG00000268427|transcript|ENST00000595015|protein_coding|1/1|c.136-29T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron|7/7|n.1086+29A>G||||||,C|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|18/18|n.2674+29A>G||||||,C|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|36/36|c.5412+29A>G||||||,C|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|16/16|n.2214+29A>G|||||| 22 50714298 . C T . . ANN=T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.5412+20G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.5412+20G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.5412+20G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.5412+20G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.5412+20G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.5412+20G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.5412+20G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.5412+20G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.5412+20G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.5412+20G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.5412+20G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.5412+20G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.5412+20G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.5412+20G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.5412+20G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.5412+20G>A||||||,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding||c.*704G>A|||||1984|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|36/36|c.5412+20G>A||||||,T|intron_variant|MODIFIER|AL022328.1|ENSG00000268427|transcript|ENST00000595015|protein_coding|1/1|c.136-20C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron|7/7|n.1086+20G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|18/18|n.2674+20G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|36/36|c.5412+20G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|16/16|n.2214+20G>A|||||| 22 50714320 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|36/37|c.5410G>A|p.Glu1804Lys|5519/6351|5410/5517|1804/1838||,T|missense_variant&splice_region_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|36/37|c.5410G>A|p.Glu1804Lys|5551/6383|5410/5517|1804/1838||,T|splice_region_variant&synonymous_variant|LOW|AL022328.1|ENSG00000268427|transcript|ENST00000595015|protein_coding|2/2|c.138C>T|p.Leu46Leu|138/168|138/168|46/55||WARNING_TRANSCRIPT_NO_STOP_CODON,T|splice_region_variant&non_coding_exon_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron|7/8|n.1084G>A||||||,T|splice_region_variant&non_coding_exon_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|18/19|n.2672G>A||||||,T|splice_region_variant&non_coding_exon_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|16/17|n.2212G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.5410G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.5410G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.5410G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.5410G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.5410G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.5410G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.5410G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.5410G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.5410G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.5410G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.5410G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.5410G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.5410G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.5410G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.5410G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.5410G>A||||||,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding||c.*704G>A|||||1962|WARNING_TRANSCRIPT_INCOMPLETE 22 50714389 . G A . . ANN=A|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|36/37|c.5341C>T|p.His1781Tyr|5450/6351|5341/5517|1781/1838||,A|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|36/37|c.5341C>T|p.His1781Tyr|5482/6383|5341/5517|1781/1838||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.5341C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.5341C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.5341C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.5341C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.5341C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.5341C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.5341C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.5341C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.5341C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.5341C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.5341C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.5341C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.5341C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.5341C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.5341C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.5341C>T||||||,A|downstream_gene_variant|MODIFIER|AL022328.1|ENSG00000268427|transcript|ENST00000595015|protein_coding||c.*168G>A|||||39|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding||c.*704C>T|||||1893|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron|7/8|n.1015C>T||||||,A|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|18/19|n.2603C>T||||||,A|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|16/17|n.2143C>T|||||| 22 50715020 . G C . . ANN=C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.5337+38C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.5337+38C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.5337+38C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.5337+38C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.5337+38C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.5337+38C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.5337+38C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.5337+38C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.5337+38C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.5337+38C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.5337+38C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.5337+38C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.5337+38C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.5337+38C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.5337+38C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.5337+38C>G||||||,C|downstream_gene_variant|MODIFIER|AL022328.1|ENSG00000268427|transcript|ENST00000595015|protein_coding||c.*168G>C|||||670|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding||c.*704C>G|||||1262|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.*644C>G|||||4536|,C|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.*567C>G|||||4983|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|35/36|c.5337+38C>G||||||,C|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron|6/7|n.1011+38C>G||||||,C|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|17/18|n.2599+38C>G||||||,C|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|35/36|c.5337+38C>G||||||,C|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|15/16|n.2139+38C>G|||||| 22 50715023 . G A . . ANN=A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.5337+35C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.5337+35C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.5337+35C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.5337+35C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.5337+35C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.5337+35C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.5337+35C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.5337+35C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.5337+35C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.5337+35C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.5337+35C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.5337+35C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.5337+35C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.5337+35C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.5337+35C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.5337+35C>T||||||,A|downstream_gene_variant|MODIFIER|AL022328.1|ENSG00000268427|transcript|ENST00000595015|protein_coding||c.*168G>A|||||673|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding||c.*704C>T|||||1259|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.*644C>T|||||4533|,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.*567C>T|||||4980|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|35/36|c.5337+35C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron|6/7|n.1011+35C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|17/18|n.2599+35C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|35/36|c.5337+35C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|15/16|n.2139+35C>T|||||| 22 50715029 . T C . . ANN=C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.5337+29A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.5337+29A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.5337+29A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.5337+29A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.5337+29A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.5337+29A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.5337+29A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.5337+29A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.5337+29A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.5337+29A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.5337+29A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.5337+29A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.5337+29A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.5337+29A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.5337+29A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.5337+29A>G||||||,C|downstream_gene_variant|MODIFIER|AL022328.1|ENSG00000268427|transcript|ENST00000595015|protein_coding||c.*168T>C|||||679|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding||c.*704A>G|||||1253|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.*644A>G|||||4527|,C|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.*567A>G|||||4974|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|35/36|c.5337+29A>G||||||,C|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron|6/7|n.1011+29A>G||||||,C|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|17/18|n.2599+29A>G||||||,C|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|35/36|c.5337+29A>G||||||,C|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|15/16|n.2139+29A>G|||||| 22 50715165 . C T . . ANN=T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.5262-32G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.5262-32G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.5262-32G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.5262-32G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.5262-32G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.5262-32G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.5262-32G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.5262-32G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.5262-32G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.5262-32G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.5262-32G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.5262-32G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.5262-32G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.5262-32G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.5262-32G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.5262-32G>A||||||,T|downstream_gene_variant|MODIFIER|AL022328.1|ENSG00000268427|transcript|ENST00000595015|protein_coding||c.*168C>T|||||815|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding||c.*704G>A|||||1117|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.*644G>A|||||4391|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.*567G>A|||||4838|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|34/36|c.5262-32G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron|5/7|n.936-32G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|16/18|n.2524-32G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|34/36|c.5262-32G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|14/16|n.2064-32G>A|||||| 22 50715271 . T C . . ANN=C|missense_variant&splice_region_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|34/37|c.5261A>G|p.Asp1754Gly|5370/6351|5261/5517|1754/1838||,C|missense_variant&splice_region_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|34/37|c.5261A>G|p.Asp1754Gly|5402/6383|5261/5517|1754/1838||,C|splice_region_variant&non_coding_exon_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron|5/8|n.935A>G||||||,C|splice_region_variant&non_coding_exon_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|16/19|n.2523A>G||||||,C|splice_region_variant&non_coding_exon_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|14/17|n.2063A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.5261A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.5261A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.5261A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.5261A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.5261A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.5261A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.5261A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.5261A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.5261A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.5261A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.5261A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.5261A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.5261A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.5261A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.5261A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.5261A>G||||||,C|downstream_gene_variant|MODIFIER|AL022328.1|ENSG00000268427|transcript|ENST00000595015|protein_coding||c.*168T>C|||||921|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding||c.*704A>G|||||1011|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.*644A>G|||||4285|,C|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.*567A>G|||||4732|WARNING_TRANSCRIPT_INCOMPLETE 22 50715339 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|33/36|c.5197-4A>G||||||,C|splice_region_variant&intron_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron|4/7|n.871-4A>G||||||,C|splice_region_variant&intron_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|15/18|n.2459-4A>G||||||,C|splice_region_variant&intron_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|33/36|c.5197-4A>G||||||,C|splice_region_variant&intron_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|13/16|n.1999-4A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.5197-4A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.5197-4A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.5197-4A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.5197-4A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.5197-4A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.5197-4A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.5197-4A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.5197-4A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.5197-4A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.5197-4A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.5197-4A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.5197-4A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.5197-4A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.5197-4A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.5197-4A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.5197-4A>G||||||,C|downstream_gene_variant|MODIFIER|AL022328.1|ENSG00000268427|transcript|ENST00000595015|protein_coding||c.*168T>C|||||989|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding||c.*704A>G|||||943|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.*644A>G|||||4217|,C|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.*567A>G|||||4664|WARNING_TRANSCRIPT_INCOMPLETE 22 50715970 . G A . . ANN=A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.5196+50C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.5196+50C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.5196+50C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.5196+50C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.5196+50C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.5196+50C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.5196+50C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.5196+50C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.5196+50C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.5196+50C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.5196+50C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.5196+50C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.5196+50C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.5196+50C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.5196+50C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.5196+50C>T||||||,A|downstream_gene_variant|MODIFIER|AL022328.1|ENSG00000268427|transcript|ENST00000595015|protein_coding||c.*168G>A|||||1620|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding||c.*704C>T|||||312|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.*644C>T|||||3586|,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.*567C>T|||||4033|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|33/36|c.5196+50C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron|4/7|n.870+50C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|15/18|n.2458+50C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|33/36|c.5196+50C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|13/16|n.1998+50C>T|||||| 22 50715973 . G T . . ANN=T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.5196+47C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.5196+47C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.5196+47C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.5196+47C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.5196+47C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.5196+47C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.5196+47C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.5196+47C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.5196+47C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.5196+47C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.5196+47C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.5196+47C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.5196+47C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.5196+47C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.5196+47C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.5196+47C>A||||||,T|downstream_gene_variant|MODIFIER|AL022328.1|ENSG00000268427|transcript|ENST00000595015|protein_coding||c.*168G>T|||||1623|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding||c.*704C>A|||||309|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.*644C>A|||||3583|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.*567C>A|||||4030|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|33/36|c.5196+47C>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron|4/7|n.870+47C>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|15/18|n.2458+47C>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|33/36|c.5196+47C>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|13/16|n.1998+47C>A|||||| 22 50716010 . C A,T . . ANN=A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.5196+10G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.5196+10G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.5196+10G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.5196+10G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.5196+10G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.5196+10G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.5196+10G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.5196+10G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.5196+10G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.5196+10G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.5196+10G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.5196+10G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.5196+10G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.5196+10G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.5196+10G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.5196+10G>T||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.5196+10G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.5196+10G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.5196+10G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.5196+10G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.5196+10G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.5196+10G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.5196+10G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.5196+10G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.5196+10G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.5196+10G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.5196+10G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.5196+10G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.5196+10G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.5196+10G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.5196+10G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.5196+10G>A||||||,A|downstream_gene_variant|MODIFIER|AL022328.1|ENSG00000268427|transcript|ENST00000595015|protein_coding||c.*168C>A|||||1660|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|AL022328.1|ENSG00000268427|transcript|ENST00000595015|protein_coding||c.*168C>T|||||1660|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding||c.*704G>T|||||272|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding||c.*704G>A|||||272|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.*644G>T|||||3546|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.*644G>A|||||3546|,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.*567G>T|||||3993|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.*567G>A|||||3993|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|33/36|c.5196+10G>T||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|33/36|c.5196+10G>A||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron|4/7|n.870+10G>T||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron|4/7|n.870+10G>A||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|15/18|n.2458+10G>T||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|15/18|n.2458+10G>A||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|33/36|c.5196+10G>T||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|33/36|c.5196+10G>A||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|13/16|n.1998+10G>T||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|13/16|n.1998+10G>A|||||| 22 50716044 . C T . . ANN=T|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|33/37|c.5172G>A|p.Thr1724Thr|5281/6351|5172/5517|1724/1838||,T|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|33/37|c.5172G>A|p.Thr1724Thr|5313/6383|5172/5517|1724/1838||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.5172G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.5172G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.5172G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.5172G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.5172G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.5172G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.5172G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.5172G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.5172G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.5172G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.5172G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.5172G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.5172G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.5172G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.5172G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.5172G>A||||||,T|downstream_gene_variant|MODIFIER|AL022328.1|ENSG00000268427|transcript|ENST00000595015|protein_coding||c.*168C>T|||||1694|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding||c.*704G>A|||||238|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.*644G>A|||||3512|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.*567G>A|||||3959|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron|4/8|n.846G>A||||||,T|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|15/19|n.2434G>A||||||,T|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|13/17|n.1974G>A|||||| 22 50716068 . C T . . ANN=T|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|33/37|c.5148G>A|p.Ala1716Ala|5257/6351|5148/5517|1716/1838||,T|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|33/37|c.5148G>A|p.Ala1716Ala|5289/6383|5148/5517|1716/1838||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.5148G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.5148G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.5148G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.5148G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.5148G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.5148G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.5148G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.5148G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.5148G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.5148G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.5148G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.5148G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.5148G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.5148G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.5148G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.5148G>A||||||,T|downstream_gene_variant|MODIFIER|AL022328.1|ENSG00000268427|transcript|ENST00000595015|protein_coding||c.*168C>T|||||1718|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding||c.*704G>A|||||214|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.*644G>A|||||3488|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.*567G>A|||||3935|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron|4/8|n.822G>A||||||,T|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|15/19|n.2410G>A||||||,T|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|13/17|n.1950G>A|||||| 22 50716167 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|33/37|c.5049C>T|p.Ser1683Ser|5158/6351|5049/5517|1683/1838||,A|splice_region_variant&non_coding_exon_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron|4/8|n.723C>T||||||,A|splice_region_variant&non_coding_exon_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|15/19|n.2311C>T||||||,A|splice_region_variant&synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|33/37|c.5049C>T|p.Ser1683Ser|5190/6383|5049/5517|1683/1838||,A|splice_region_variant&non_coding_exon_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|13/17|n.1851C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.5049C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.5049C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.5049C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.5049C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.5049C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.5049C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.5049C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.5049C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.5049C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.5049C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.5049C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.5049C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.5049C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.5049C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.5049C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.5049C>T||||||,A|downstream_gene_variant|MODIFIER|AL022328.1|ENSG00000268427|transcript|ENST00000595015|protein_coding||c.*168G>A|||||1817|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding||c.*704C>T|||||115|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.*644C>T|||||3389|,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.*567C>T|||||3836|WARNING_TRANSCRIPT_INCOMPLETE 22 50716302 . G A . . ANN=A|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|32/37|c.5028C>T|p.Ile1676Ile|5137/6351|5028/5517|1676/1838||,A|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|32/37|c.5028C>T|p.Ile1676Ile|5169/6383|5028/5517|1676/1838||,A|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|6/6|c.684C>T|p.Ile228Ile|684/704|684/704|228/233||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.5028C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.5028C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.5028C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.5028C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.5028C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.5028C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.5028C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.5028C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.5028C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.5028C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.5028C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.5028C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.5028C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.5028C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.5028C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.5028C>T||||||,A|downstream_gene_variant|MODIFIER|AL022328.1|ENSG00000268427|transcript|ENST00000595015|protein_coding||c.*168G>A|||||1952|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.*644C>T|||||3254|,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.*567C>T|||||3701|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron|3/8|n.702C>T||||||,A|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|14/19|n.2290C>T||||||,A|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|12/17|n.1830C>T|||||| 22 50716375 . G A . . ANN=A|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|32/37|c.4955C>T|p.Pro1652Leu|5064/6351|4955/5517|1652/1838||,A|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|32/37|c.4955C>T|p.Pro1652Leu|5096/6383|4955/5517|1652/1838||,A|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|6/6|c.611C>T|p.Pro204Leu|611/704|611/704|204/233||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.4955C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.4955C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.4955C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.4955C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.4955C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.4955C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.4955C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.4955C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.4955C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.4955C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.4955C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.4955C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.4955C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.4955C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.4955C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.4955C>T||||||,A|downstream_gene_variant|MODIFIER|AL022328.1|ENSG00000268427|transcript|ENST00000595015|protein_coding||c.*168G>A|||||2025|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.*644C>T|||||3181|,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.*567C>T|||||3628|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron|3/8|n.629C>T||||||,A|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|14/19|n.2217C>T||||||,A|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|12/17|n.1757C>T|||||| 22 50716446 . TG T . . ANN=|splice_region_variant&intron_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|31/36|c.4888-5delC||||||,|splice_region_variant&intron_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron|2/7|n.562-5delC||||||,|splice_region_variant&intron_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|13/18|n.2150-5delC||||||,|splice_region_variant&intron_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|31/36|c.4888-5delC||||||,|splice_region_variant&intron_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|11/16|n.1690-5delC||||||,|splice_region_variant&intron_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|5/5|c.544-5delC||||||WARNING_TRANSCRIPT_INCOMPLETE,|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.4888-5delC||||||,|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.4888-5delC||||||,|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.4888-5delC||||||,|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.4888-5delC||||||,|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.4888-5delC||||||,|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.4888-5delC||||||,|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.4888-5delC||||||,|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.4888-5delC||||||,|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.4888-5delC||||||,|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.4888-5delC||||||,|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.4888-5delC||||||,|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.4888-5delC||||||,|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.4888-5delC||||||,|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.4888-5delC||||||,|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.4888-5delC||||||,|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.4888-5delC||||||,|downstream_gene_variant|MODIFIER|AL022328.1|ENSG00000268427|transcript|ENST00000595015|protein_coding||c.*168delG|||||2097|WARNING_TRANSCRIPT_NO_STOP_CODON,|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.*644delC|||||3109|,|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.*567delC|||||3556|WARNING_TRANSCRIPT_INCOMPLETE 22 50716479 . G A . . ANN=A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.4888-37C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.4888-37C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.4888-37C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.4888-37C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.4888-37C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.4888-37C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.4888-37C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.4888-37C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.4888-37C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.4888-37C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.4888-37C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.4888-37C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.4888-37C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.4888-37C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.4888-37C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.4888-37C>T||||||,A|downstream_gene_variant|MODIFIER|AL022328.1|ENSG00000268427|transcript|ENST00000595015|protein_coding||c.*168G>A|||||2129|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.*644C>T|||||3077|,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.*567C>T|||||3524|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|31/36|c.4888-37C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron|2/7|n.562-37C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|13/18|n.2150-37C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|31/36|c.4888-37C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|11/16|n.1690-37C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|5/5|c.544-37C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50716480 . C T . . ANN=T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.4888-38G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.4888-38G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.4888-38G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.4888-38G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.4888-38G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.4888-38G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.4888-38G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.4888-38G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.4888-38G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.4888-38G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.4888-38G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.4888-38G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.4888-38G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.4888-38G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.4888-38G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.4888-38G>A||||||,T|downstream_gene_variant|MODIFIER|AL022328.1|ENSG00000268427|transcript|ENST00000595015|protein_coding||c.*168C>T|||||2130|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.*644G>A|||||3076|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.*567G>A|||||3523|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|31/36|c.4888-38G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron|2/7|n.562-38G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|13/18|n.2150-38G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|31/36|c.4888-38G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|11/16|n.1690-38G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|5/5|c.544-38G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50716490 . G T . . ANN=T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.4888-48C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.4888-48C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.4888-48C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.4888-48C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.4888-48C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.4888-48C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.4888-48C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.4888-48C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.4888-48C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.4888-48C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.4888-48C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.4888-48C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.4888-48C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.4888-48C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.4888-48C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.4888-48C>A||||||,T|downstream_gene_variant|MODIFIER|AL022328.1|ENSG00000268427|transcript|ENST00000595015|protein_coding||c.*168G>T|||||2140|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.*644C>A|||||3066|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.*567C>A|||||3513|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|31/36|c.4888-48C>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron|2/7|n.562-48C>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|13/18|n.2150-48C>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|31/36|c.4888-48C>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|11/16|n.1690-48C>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|5/5|c.544-48C>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50716492 . G A . . ANN=A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.4888-50C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.4888-50C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.4888-50C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.4888-50C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.4888-50C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.4888-50C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.4888-50C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.4888-50C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.4888-50C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.4888-50C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.4888-50C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.4888-50C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.4888-50C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.4888-50C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.4888-50C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.4888-50C>T||||||,A|downstream_gene_variant|MODIFIER|AL022328.1|ENSG00000268427|transcript|ENST00000595015|protein_coding||c.*168G>A|||||2142|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.*644C>T|||||3064|,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.*567C>T|||||3511|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|31/36|c.4888-50C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron|2/7|n.562-50C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|13/18|n.2150-50C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|31/36|c.4888-50C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|11/16|n.1690-50C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|5/5|c.544-50C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50716538 . G T . . ANN=T|splice_region_variant&intron_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|31/36|c.4887+8C>A||||||,T|splice_region_variant&intron_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron|2/7|n.561+8C>A||||||,T|splice_region_variant&intron_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|13/18|n.2149+8C>A||||||,T|splice_region_variant&intron_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|31/36|c.4887+8C>A||||||,T|splice_region_variant&intron_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|11/16|n.1689+8C>A||||||,T|splice_region_variant&intron_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|5/5|c.543+8C>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.4887+8C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.4887+8C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.4887+8C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.4887+8C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.4887+8C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.4887+8C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.4887+8C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.4887+8C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.4887+8C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.4887+8C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.4887+8C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.4887+8C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.4887+8C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.4887+8C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.4887+8C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.4887+8C>A||||||,T|downstream_gene_variant|MODIFIER|AL022328.1|ENSG00000268427|transcript|ENST00000595015|protein_coding||c.*168G>T|||||2188|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.*644C>A|||||3018|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.*567C>A|||||3465|WARNING_TRANSCRIPT_INCOMPLETE 22 50717015 . A G . . ANN=G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.4647+10T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.4647+10T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.4647+10T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.4647+10T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.4647+10T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.4647+10T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.4647+10T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.4647+10T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.4647+10T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.4647+10T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.4647+10T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.4647+10T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.4647+10T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.4647+10T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.4647+10T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.4647+10T>C||||||,G|downstream_gene_variant|MODIFIER|AL022328.1|ENSG00000268427|transcript|ENST00000595015|protein_coding||c.*168A>G|||||2665|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.*644T>C|||||2541|,G|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.*567T>C|||||2988|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913T>C|||||4752|,G|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|29/36|c.4647+10T>C||||||,G|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|11/18|n.1909+10T>C||||||,G|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|29/36|c.4647+10T>C||||||,G|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|9/16|n.1449+10T>C||||||,G|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|3/5|c.303+10T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron|1/8|n.255T>C|||||| 22 50717129 . T G . . ANN=G|splice_region_variant&intron_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|28/36|c.4547-4A>C||||||,G|splice_region_variant&intron_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|10/18|n.1809-4A>C||||||,G|splice_region_variant&intron_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|28/36|c.4547-4A>C||||||,G|splice_region_variant&intron_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|8/16|n.1349-4A>C||||||,G|splice_region_variant&intron_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-4A>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.4547-4A>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.4547-4A>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.4547-4A>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.4547-4A>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.4547-4A>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.4547-4A>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.4547-4A>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.4547-4A>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.4547-4A>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.4547-4A>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.4547-4A>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.4547-4A>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.4547-4A>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.4547-4A>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.4547-4A>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.4547-4A>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|beta_strand|ENST00000359337|protein_coding|29/37|c.4547-4A>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|beta_strand|ENST00000359337|protein_coding|28/37|c.4547-4A>C||||||,G|downstream_gene_variant|MODIFIER|AL022328.1|ENSG00000268427|transcript|ENST00000595015|protein_coding||c.*168T>G|||||2779|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.*644A>C|||||2427|,G|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.*567A>C|||||2874|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913A>C|||||4638|,G|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron|1/8|n.141A>C|||||| 22 50717263 . C T . . ANN=T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.4546+21G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.4546+21G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.4546+21G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.4546+21G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.4546+21G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.4546+21G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.4546+21G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.4546+21G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.4546+21G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.4546+21G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.4546+21G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.4546+21G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.4546+21G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.4546+21G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.4546+21G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.4546+21G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|beta_strand|ENST00000359337|protein_coding|29/37|c.4546+21G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|beta_strand|ENST00000359337|protein_coding|28/37|c.4546+21G>A||||||,T|downstream_gene_variant|MODIFIER|AL022328.1|ENSG00000268427|transcript|ENST00000595015|protein_coding||c.*168C>T|||||2913|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.*644G>A|||||2293|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.*567G>A|||||2740|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913G>A|||||4504|,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|28/36|c.4546+21G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|10/18|n.1808+21G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|28/36|c.4546+21G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|8/16|n.1348+21G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-138G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron|1/8|n.7G>A|||||| 22 50717291 . C T . . ANN=T|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|28/37|c.4539G>A|p.Val1513Val|4648/6351|4539/5517|1513/1838||,T|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|28/37|c.4539G>A|p.Val1513Val|4680/6383|4539/5517|1513/1838||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.4539G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.4539G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.4539G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.4539G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.4539G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.4539G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.4539G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.4539G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.4539G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.4539G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.4539G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.4539G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.4539G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.4539G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.4539G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.4539G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|beta_strand|ENST00000359337|protein_coding|29/37|c.4539G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|beta_strand|ENST00000359337|protein_coding|28/37|c.4539G>A||||||,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1G>A|||||22|,T|downstream_gene_variant|MODIFIER|AL022328.1|ENSG00000268427|transcript|ENST00000595015|protein_coding||c.*168C>T|||||2941|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.*644G>A|||||2265|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.*567G>A|||||2712|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913G>A|||||4476|,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-166G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|10/19|n.1801G>A||||||,T|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|8/17|n.1341G>A|||||| 22 50717405 . G A . . ANN=A|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|28/37|c.4425C>T|p.Asp1475Asp|4534/6351|4425/5517|1475/1838||,A|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|28/37|c.4425C>T|p.Asp1475Asp|4566/6383|4425/5517|1475/1838||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.4425C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.4425C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.4425C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.4425C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.4425C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.4425C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.4425C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.4425C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.4425C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.4425C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.4425C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.4425C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.4425C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.4425C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.4425C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.4425C>T||||||,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1C>T|||||136|,A|downstream_gene_variant|MODIFIER|AL022328.1|ENSG00000268427|transcript|ENST00000595015|protein_coding||c.*168G>A|||||3055|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.*644C>T|||||2151|,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.*567C>T|||||2598|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913C>T|||||4362|,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-280C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|10/19|n.1687C>T||||||,A|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|8/17|n.1227C>T|||||| 22 50717476 . C A . . ANN=A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.4390-36G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.4390-36G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.4390-36G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.4390-36G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.4390-36G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.4390-36G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.4390-36G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.4390-36G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.4390-36G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.4390-36G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.4390-36G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.4390-36G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.4390-36G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.4390-36G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.4390-36G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.4390-36G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|beta_strand|ENST00000359337|protein_coding|27/37|c.4390-36G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|beta_strand|ENST00000359337|protein_coding|28/37|c.4390-36G>T||||||,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1G>T|||||207|,A|downstream_gene_variant|MODIFIER|AL022328.1|ENSG00000268427|transcript|ENST00000595015|protein_coding||c.*168C>A|||||3126|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.*644G>T|||||2080|,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.*567G>T|||||2527|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913G>T|||||4291|,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|27/36|c.4390-36G>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|9/18|n.1652-36G>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|27/36|c.4390-36G>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|7/16|n.1192-36G>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-351G>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50718101 . G A . . ANN=A|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|27/37|c.4347C>T|p.Asn1449Asn|4456/6351|4347/5517|1449/1838||,A|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|27/37|c.4347C>T|p.Asn1449Asn|4488/6383|4347/5517|1449/1838||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.4347C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.4347C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.4347C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.4347C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.4347C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.4347C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.4347C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.4347C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.4347C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.4347C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.4347C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.4347C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.4347C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.4347C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.4347C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.4347C>T||||||,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1C>T|||||832|,A|downstream_gene_variant|MODIFIER|AL022328.1|ENSG00000268427|transcript|ENST00000595015|protein_coding||c.*168G>A|||||3751|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.*644C>T|||||1455|,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.*567C>T|||||1902|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913C>T|||||3666|,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253C>T|||||4495|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-976C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|9/19|n.1609C>T||||||,A|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|7/17|n.1149C>T|||||| 22 50718217 . C T . . ANN=T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.4243-12G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.4243-12G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.4243-12G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.4243-12G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.4243-12G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.4243-12G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.4243-12G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.4243-12G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.4243-12G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.4243-12G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.4243-12G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.4243-12G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.4243-12G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.4243-12G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.4243-12G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.4243-12G>A||||||,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1G>A|||||948|,T|downstream_gene_variant|MODIFIER|AL022328.1|ENSG00000268427|transcript|ENST00000595015|protein_coding||c.*168C>T|||||3867|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.*644G>A|||||1339|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.*567G>A|||||1786|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913G>A|||||3550|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253G>A|||||4379|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|26/36|c.4243-12G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|8/18|n.1505-12G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|26/36|c.4243-12G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|6/16|n.1045-12G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-1092G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50718397 . A G . . ANN=G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.4242+37T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.4242+37T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.4242+37T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.4242+37T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.4242+37T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.4242+37T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.4242+37T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.4242+37T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.4242+37T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.4242+37T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.4242+37T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.4242+37T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.4242+37T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.4242+37T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.4242+37T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.4242+37T>C||||||,G|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1T>C|||||1128|,G|downstream_gene_variant|MODIFIER|AL022328.1|ENSG00000268427|transcript|ENST00000595015|protein_coding||c.*168A>G|||||4047|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.*644T>C|||||1159|,G|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.*567T>C|||||1606|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913T>C|||||3370|,G|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253T>C|||||4199|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|26/36|c.4242+37T>C||||||,G|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|8/18|n.1504+37T>C||||||,G|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|26/36|c.4242+37T>C||||||,G|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|6/16|n.1044+37T>C||||||,G|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-1272T>C||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50718873 . G A . . ANN=A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.4175+45C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.4175+45C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.4175+45C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.4175+45C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.4175+45C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.4175+45C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.4175+45C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.4175+45C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.4175+45C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.4175+45C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.4175+45C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.4175+45C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.4175+45C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.4175+45C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.4175+45C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.4175+45C>T||||||,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1C>T|||||1604|,A|downstream_gene_variant|MODIFIER|AL022328.1|ENSG00000268427|transcript|ENST00000595015|protein_coding||c.*168G>A|||||4523|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.*644C>T|||||683|,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.*567C>T|||||1130|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913C>T|||||2894|,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253C>T|||||3723|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|25/36|c.4175+45C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|7/18|n.1437+45C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|25/36|c.4175+45C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|5/16|n.977+45C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-1748C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50718893 . C T . . ANN=T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.4175+25G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.4175+25G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.4175+25G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.4175+25G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.4175+25G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.4175+25G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.4175+25G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.4175+25G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.4175+25G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.4175+25G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.4175+25G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.4175+25G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.4175+25G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.4175+25G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.4175+25G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.4175+25G>A||||||,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1G>A|||||1624|,T|downstream_gene_variant|MODIFIER|AL022328.1|ENSG00000268427|transcript|ENST00000595015|protein_coding||c.*168C>T|||||4543|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.*644G>A|||||663|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.*567G>A|||||1110|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913G>A|||||2874|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253G>A|||||3703|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|25/36|c.4175+25G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|7/18|n.1437+25G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|25/36|c.4175+25G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|5/16|n.977+25G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-1768G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50718894 . G A . . ANN=A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.4175+24C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.4175+24C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.4175+24C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.4175+24C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.4175+24C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.4175+24C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.4175+24C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.4175+24C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.4175+24C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.4175+24C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.4175+24C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.4175+24C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.4175+24C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.4175+24C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.4175+24C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.4175+24C>T||||||,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1C>T|||||1625|,A|downstream_gene_variant|MODIFIER|AL022328.1|ENSG00000268427|transcript|ENST00000595015|protein_coding||c.*168G>A|||||4544|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.*644C>T|||||662|,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.*567C>T|||||1109|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913C>T|||||2873|,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253C>T|||||3702|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|25/36|c.4175+24C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|7/18|n.1437+24C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|25/36|c.4175+24C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|5/16|n.977+24C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-1769C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50718941 . C T . . ANN=T|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|25/37|c.4152G>A|p.Lys1384Lys|4261/6351|4152/5517|1384/1838||,T|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|25/37|c.4152G>A|p.Lys1384Lys|4293/6383|4152/5517|1384/1838||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.4152G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.4152G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.4152G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.4152G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.4152G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.4152G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.4152G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.4152G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.4152G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.4152G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.4152G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.4152G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.4152G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.4152G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.4152G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.4152G>A||||||,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1G>A|||||1672|,T|downstream_gene_variant|MODIFIER|AL022328.1|ENSG00000268427|transcript|ENST00000595015|protein_coding||c.*168C>T|||||4591|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.*644G>A|||||615|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.*567G>A|||||1062|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913G>A|||||2826|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253G>A|||||3655|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-1816G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|7/19|n.1414G>A||||||,T|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|5/17|n.954G>A|||||| 22 50719040 . C A . . ANN=A|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|25/37|c.4053G>T|p.Ala1351Ala|4162/6351|4053/5517|1351/1838||,A|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|25/37|c.4053G>T|p.Ala1351Ala|4194/6383|4053/5517|1351/1838||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.4053G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.4053G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.4053G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.4053G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.4053G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.4053G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.4053G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.4053G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.4053G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.4053G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.4053G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.4053G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.4053G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.4053G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.4053G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.4053G>T||||||,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1G>T|||||1771|,A|downstream_gene_variant|MODIFIER|AL022328.1|ENSG00000268427|transcript|ENST00000595015|protein_coding||c.*168C>A|||||4690|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.*644G>T|||||516|,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.*567G>T|||||963|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913G>T|||||2727|,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253G>T|||||3556|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-1915G>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|7/19|n.1315G>T||||||,A|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|5/17|n.855G>T|||||| 22 50719046 . G A . . ANN=A|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|25/37|c.4047C>T|p.Tyr1349Tyr|4156/6351|4047/5517|1349/1838||,A|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|25/37|c.4047C>T|p.Tyr1349Tyr|4188/6383|4047/5517|1349/1838||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.4047C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.4047C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.4047C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.4047C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.4047C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.4047C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.4047C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.4047C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.4047C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.4047C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.4047C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.4047C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.4047C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.4047C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.4047C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.4047C>T||||||,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1C>T|||||1777|,A|downstream_gene_variant|MODIFIER|AL022328.1|ENSG00000268427|transcript|ENST00000595015|protein_coding||c.*168G>A|||||4696|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.*644C>T|||||510|,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.*567C>T|||||957|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913C>T|||||2721|,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253C>T|||||3550|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-1921C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|7/19|n.1309C>T||||||,A|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|5/17|n.849C>T|||||| 22 50719113 . C T . . ANN=T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.3994-14G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.3994-14G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.3994-14G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.3994-14G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.3994-14G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.3994-14G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.3994-14G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.3994-14G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.3994-14G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.3994-14G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.3994-14G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.3994-14G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.3994-14G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.3994-14G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.3994-14G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.3994-14G>A||||||,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1G>A|||||1844|,T|downstream_gene_variant|MODIFIER|AL022328.1|ENSG00000268427|transcript|ENST00000595015|protein_coding||c.*168C>T|||||4763|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.*644G>A|||||443|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.*567G>A|||||890|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913G>A|||||2654|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253G>A|||||3483|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|24/36|c.3994-14G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|6/18|n.1256-14G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|24/36|c.3994-14G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|4/16|n.796-14G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-1988G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50719155 . G A . . ANN=A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.3993+18C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.3993+18C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.3993+18C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.3993+18C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.3993+18C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.3993+18C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.3993+18C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.3993+18C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.3993+18C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.3993+18C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.3993+18C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.3993+18C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.3993+18C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.3993+18C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.3993+18C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.3993+18C>T||||||,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1C>T|||||1886|,A|downstream_gene_variant|MODIFIER|AL022328.1|ENSG00000268427|transcript|ENST00000595015|protein_coding||c.*168G>A|||||4805|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.*644C>T|||||401|,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.*567C>T|||||848|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913C>T|||||2612|,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253C>T|||||3441|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|24/36|c.3993+18C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|6/18|n.1255+18C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|24/36|c.3993+18C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|4/16|n.795+18C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-2030C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50719161 . C T . . ANN=T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.3993+12G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.3993+12G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.3993+12G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.3993+12G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.3993+12G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.3993+12G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.3993+12G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.3993+12G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.3993+12G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.3993+12G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.3993+12G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.3993+12G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.3993+12G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.3993+12G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.3993+12G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.3993+12G>A||||||,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1G>A|||||1892|,T|downstream_gene_variant|MODIFIER|AL022328.1|ENSG00000268427|transcript|ENST00000595015|protein_coding||c.*168C>T|||||4811|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.*644G>A|||||395|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.*567G>A|||||842|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913G>A|||||2606|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253G>A|||||3435|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|24/36|c.3993+12G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|6/18|n.1255+12G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|24/36|c.3993+12G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|4/16|n.795+12G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-2036G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50719165 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|24/36|c.3993+8A>G||||||,C|splice_region_variant&intron_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|6/18|n.1255+8A>G||||||,C|splice_region_variant&intron_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|24/36|c.3993+8A>G||||||,C|splice_region_variant&intron_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|4/16|n.795+8A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.3993+8A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.3993+8A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.3993+8A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.3993+8A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.3993+8A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.3993+8A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.3993+8A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.3993+8A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.3993+8A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.3993+8A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.3993+8A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.3993+8A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.3993+8A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.3993+8A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.3993+8A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.3993+8A>G||||||,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1A>G|||||1896|,C|downstream_gene_variant|MODIFIER|AL022328.1|ENSG00000268427|transcript|ENST00000595015|protein_coding||c.*168T>C|||||4815|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.*644A>G|||||391|,C|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.*567A>G|||||838|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913A>G|||||2602|,C|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253A>G|||||3431|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-2040A>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50719166 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|24/36|c.3993+7C>T||||||,A|splice_region_variant&intron_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|6/18|n.1255+7C>T||||||,A|splice_region_variant&intron_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|24/36|c.3993+7C>T||||||,A|splice_region_variant&intron_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|4/16|n.795+7C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.3993+7C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.3993+7C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.3993+7C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.3993+7C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.3993+7C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.3993+7C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.3993+7C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.3993+7C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.3993+7C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.3993+7C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.3993+7C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.3993+7C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.3993+7C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.3993+7C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.3993+7C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.3993+7C>T||||||,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1C>T|||||1897|,A|downstream_gene_variant|MODIFIER|AL022328.1|ENSG00000268427|transcript|ENST00000595015|protein_coding||c.*168G>A|||||4816|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.*644C>T|||||390|,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.*567C>T|||||837|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913C>T|||||2601|,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253C>T|||||3430|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-2041C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50719237 . G A . . ANN=A|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|24/37|c.3929C>T|p.Pro1310Leu|4038/6351|3929/5517|1310/1838||,A|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|24/37|c.3929C>T|p.Pro1310Leu|4070/6383|3929/5517|1310/1838||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.3929C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.3929C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.3929C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.3929C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.3929C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.3929C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.3929C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.3929C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.3929C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.3929C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.3929C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.3929C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.3929C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.3929C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.3929C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.3929C>T||||||,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1C>T|||||1968|,A|downstream_gene_variant|MODIFIER|AL022328.1|ENSG00000268427|transcript|ENST00000595015|protein_coding||c.*168G>A|||||4887|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.*644C>T|||||319|,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.*567C>T|||||766|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913C>T|||||2530|,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253C>T|||||3359|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-2112C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|6/19|n.1191C>T||||||,A|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|4/17|n.731C>T|||||| 22 50719251 . A G . . ANN=G|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|24/37|c.3915T>C|p.Pro1305Pro|4024/6351|3915/5517|1305/1838||,G|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|24/37|c.3915T>C|p.Pro1305Pro|4056/6383|3915/5517|1305/1838||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.3915T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.3915T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.3915T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.3915T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.3915T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.3915T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.3915T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.3915T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.3915T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.3915T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.3915T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.3915T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.3915T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.3915T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.3915T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.3915T>C||||||,G|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1T>C|||||1982|,G|downstream_gene_variant|MODIFIER|AL022328.1|ENSG00000268427|transcript|ENST00000595015|protein_coding||c.*168A>G|||||4901|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.*644T>C|||||305|,G|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.*567T>C|||||752|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913T>C|||||2516|,G|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253T>C|||||3345|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-2126T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|6/19|n.1177T>C||||||,G|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|4/17|n.717T>C|||||| 22 50719443 . G A . . ANN=A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.3764-41C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.3764-41C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.3764-41C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.3764-41C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.3764-41C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.3764-41C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.3764-41C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.3764-41C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.3764-41C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.3764-41C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.3764-41C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.3764-41C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.3764-41C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.3764-41C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.3764-41C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.3764-41C>T||||||,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1C>T|||||2174|,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.*644C>T|||||113|,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.*567C>T|||||560|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913C>T|||||2324|,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253C>T|||||3153|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|23/36|c.3764-41C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|5/18|n.1026-41C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|23/36|c.3764-41C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|3/16|n.566-41C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-2318C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50719484 . G A . . ANN=A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.3763+34C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.3763+34C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.3763+34C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.3763+34C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.3763+34C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.3763+34C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.3763+34C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.3763+34C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.3763+34C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.3763+34C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.3763+34C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.3763+34C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.3763+34C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.3763+34C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.3763+34C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.3763+34C>T||||||,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1C>T|||||2215|,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.*644C>T|||||72|,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.*567C>T|||||519|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913C>T|||||2283|,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253C>T|||||3112|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|23/36|c.3763+34C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|5/18|n.1025+34C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|23/36|c.3763+34C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|3/16|n.565+34C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-2359C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50719632 . C A . . ANN=A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.3663-14G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.3663-14G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.3663-14G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.3663-14G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.3663-14G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.3663-14G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.3663-14G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.3663-14G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.3663-14G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.3663-14G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.3663-14G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.3663-14G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.3663-14G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.3663-14G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.3663-14G>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.3663-14G>T||||||,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1G>T|||||2363|,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.*567G>T|||||371|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913G>T|||||2135|,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253G>T|||||2964|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|22/36|c.3663-14G>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|4/18|n.925-14G>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|22/36|c.3663-14G>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|2/16|n.465-14G>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-2507G>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron|2/2|n.582-14G>T|||||| 22 50719643 . G C . . ANN=C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.3663-25C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.3663-25C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.3663-25C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.3663-25C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.3663-25C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.3663-25C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.3663-25C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.3663-25C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.3663-25C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.3663-25C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.3663-25C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.3663-25C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.3663-25C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.3663-25C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.3663-25C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.3663-25C>G||||||,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1C>G|||||2374|,C|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.*567C>G|||||360|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913C>G|||||2124|,C|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253C>G|||||2953|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|22/36|c.3663-25C>G||||||,C|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|4/18|n.925-25C>G||||||,C|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|22/36|c.3663-25C>G||||||,C|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|2/16|n.465-25C>G||||||,C|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-2518C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron|2/2|n.582-25C>G|||||| 22 50719652 . G A . . ANN=A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.3663-34C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.3663-34C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.3663-34C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.3663-34C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.3663-34C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.3663-34C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.3663-34C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.3663-34C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.3663-34C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.3663-34C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.3663-34C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.3663-34C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.3663-34C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.3663-34C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.3663-34C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.3663-34C>T||||||,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1C>T|||||2383|,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.*567C>T|||||351|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913C>T|||||2115|,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253C>T|||||2944|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|22/36|c.3663-34C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|4/18|n.925-34C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|22/36|c.3663-34C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|2/16|n.465-34C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-2527C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron|2/2|n.582-34C>T|||||| 22 50719774 . G A . . ANN=A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.3662+15C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.3662+15C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.3662+15C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.3662+15C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.3662+15C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.3662+15C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.3662+15C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.3662+15C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.3662+15C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.3662+15C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.3662+15C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.3662+15C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.3662+15C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.3662+15C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.3662+15C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.3662+15C>T||||||,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1C>T|||||2505|,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.*567C>T|||||229|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913C>T|||||1993|,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253C>T|||||2822|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|22/36|c.3662+15C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|4/18|n.924+15C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|22/36|c.3662+15C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|2/16|n.464+15C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-2649C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron|2/2|n.581+15C>T|||||| 22 50719842 . C T . . ANN=T|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|22/37|c.3609G>A|p.Pro1203Pro|3718/6351|3609/5517|1203/1838||,T|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|22/37|c.3609G>A|p.Pro1203Pro|3750/6383|3609/5517|1203/1838||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|transmembrane_region:Transmembrane_region|ENST00000359337|protein_coding|22/37|c.3609G>A||||||,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1G>A|||||2573|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.*567G>A|||||161|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913G>A|||||1925|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253G>A|||||2754|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-2717G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|4/19|n.871G>A||||||,T|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|2/17|n.411G>A||||||,T|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron|2/3|n.528G>A|||||| 22 50719860 . C T . . ANN=T|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|22/37|c.3591G>A|p.Pro1197Pro|3700/6351|3591/5517|1197/1838||,T|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|22/37|c.3591G>A|p.Pro1197Pro|3732/6383|3591/5517|1197/1838||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.3591G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.3591G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.3591G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.3591G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.3591G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.3591G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.3591G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.3591G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.3591G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.3591G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.3591G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.3591G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.3591G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.3591G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.3591G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.3591G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.3591G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.3591G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.3591G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.3591G>A||||||,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1G>A|||||2591|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.*567G>A|||||143|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913G>A|||||1907|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253G>A|||||2736|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-2735G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|4/19|n.853G>A||||||,T|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|2/17|n.393G>A||||||,T|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron|2/3|n.510G>A|||||| 22 50719869 . G A . . ANN=A|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|22/37|c.3582C>T|p.Ser1194Ser|3691/6351|3582/5517|1194/1838||,A|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|22/37|c.3582C>T|p.Ser1194Ser|3723/6383|3582/5517|1194/1838||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.3582C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.3582C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.3582C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.3582C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.3582C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.3582C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.3582C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.3582C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.3582C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.3582C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.3582C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.3582C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.3582C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.3582C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.3582C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.3582C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.3582C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.3582C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.3582C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.3582C>T||||||,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1C>T|||||2600|,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.*567C>T|||||134|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913C>T|||||1898|,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253C>T|||||2727|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-2744C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|4/19|n.844C>T||||||,A|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|2/17|n.384C>T||||||,A|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron|2/3|n.501C>T|||||| 22 50719942 . C T . . ANN=T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.3523-14G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.3523-14G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.3523-14G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.3523-14G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.3523-14G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.3523-14G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.3523-14G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.3523-14G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.3523-14G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.3523-14G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.3523-14G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.3523-14G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.3523-14G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.3523-14G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.3523-14G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.3523-14G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.3523-14G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.3523-14G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.3523-14G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.3523-14G>A||||||,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1G>A|||||2673|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.*567G>A|||||61|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913G>A|||||1825|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253G>A|||||2654|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|21/36|c.3523-14G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|3/18|n.785-14G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|21/36|c.3523-14G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-2817G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron|1/2|n.442-14G>A||||||,T|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|2/17|n.311G>A|||||| 22 50719976 . C T . . ANN=T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.3522+19G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.3522+19G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.3522+19G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.3522+19G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.3522+19G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.3522+19G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.3522+19G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.3522+19G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.3522+19G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.3522+19G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.3522+19G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.3522+19G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.3522+19G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.3522+19G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.3522+19G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.3522+19G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.3522+19G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.3522+19G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.3522+19G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.3522+19G>A||||||,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1G>A|||||2707|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.*567G>A|||||27|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913G>A|||||1791|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253G>A|||||2620|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|21/36|c.3522+19G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|3/18|n.784+19G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|21/36|c.3522+19G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-2851G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron|1/2|n.441+19G>A||||||,T|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|2/17|n.277G>A|||||| 22 50720181 . C G . . ANN=G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.3346-10G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.3346-10G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.3346-10G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.3346-10G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.3346-10G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.3346-10G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.3346-10G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.3346-10G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.3346-10G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.3346-10G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.3346-10G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.3346-10G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.3346-10G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.3346-10G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.3346-10G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.3346-10G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.3346-10G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.3346-10G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.3346-10G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.3346-10G>C||||||,G|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1G>C|||||2912|,G|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913G>C|||||1586|,G|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253G>C|||||2415|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|20/36|c.3346-10G>C||||||,G|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|2/18|n.608-10G>C||||||,G|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|20/36|c.3346-10G>C||||||,G|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|1/16|n.82-10G>C||||||,G|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-3056G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding|2/2|c.397-10G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron|1/3|n.255G>C|||||| 22 50720191 . C T . . ANN=T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.3346-20G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.3346-20G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.3346-20G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.3346-20G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.3346-20G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.3346-20G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.3346-20G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.3346-20G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.3346-20G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.3346-20G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.3346-20G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.3346-20G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.3346-20G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.3346-20G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.3346-20G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.3346-20G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.3346-20G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.3346-20G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.3346-20G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.3346-20G>A||||||,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1G>A|||||2922|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913G>A|||||1576|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253G>A|||||2405|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|20/36|c.3346-20G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|2/18|n.608-20G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|20/36|c.3346-20G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|1/16|n.82-20G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-3066G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding|2/2|c.397-20G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron|1/3|n.245G>A|||||| 22 50720215 . G A . . ANN=A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.3346-44C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.3346-44C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.3346-44C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.3346-44C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.3346-44C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.3346-44C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.3346-44C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.3346-44C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.3346-44C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.3346-44C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.3346-44C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.3346-44C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.3346-44C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.3346-44C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.3346-44C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.3346-44C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.3346-44C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.3346-44C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.3346-44C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.3346-44C>T||||||,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1C>T|||||2946|,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913C>T|||||1552|,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253C>T|||||2381|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|20/36|c.3346-44C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|2/18|n.608-44C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|20/36|c.3346-44C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|1/16|n.82-44C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-3090C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding|2/2|c.397-44C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron|1/3|n.221C>T|||||| 22 50720264 . G A . . ANN=A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.3345+19C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.3345+19C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.3345+19C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.3345+19C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.3345+19C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.3345+19C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.3345+19C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.3345+19C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.3345+19C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.3345+19C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.3345+19C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.3345+19C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.3345+19C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.3345+19C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.3345+19C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.3345+19C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.3345+19C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.3345+19C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.3345+19C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.3345+19C>T||||||,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1C>T|||||2995|,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913C>T|||||1503|,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253C>T|||||2332|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|20/36|c.3345+19C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|2/18|n.607+19C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|20/36|c.3345+19C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|1/16|n.81+19C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-3139C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding|2/2|c.396+19C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron|1/3|n.172C>T|||||| 22 50720295 . G A . . ANN=A|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|20/37|c.3333C>T|p.Leu1111Leu|3442/6351|3333/5517|1111/1838||,A|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|20/37|c.3333C>T|p.Leu1111Leu|3474/6383|3333/5517|1111/1838||,A|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding|2/3|c.384C>T|p.Leu128Leu|386/567|384/565|128/187||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.3333C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.3333C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.3333C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.3333C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.3333C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.3333C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.3333C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.3333C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.3333C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.3333C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.3333C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.3333C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.3333C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.3333C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.3333C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.3333C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.3333C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.3333C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.3333C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.3333C>T||||||,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1C>T|||||3026|,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913C>T|||||1472|,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253C>T|||||2301|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-3170C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|2/19|n.595C>T||||||,A|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|1/17|n.69C>T||||||,A|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron|1/3|n.141C>T|||||| 22 50720319 . G A . . ANN=A|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|20/37|c.3309C>T|p.Gly1103Gly|3418/6351|3309/5517|1103/1838||,A|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|20/37|c.3309C>T|p.Gly1103Gly|3450/6383|3309/5517|1103/1838||,A|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding|2/3|c.360C>T|p.Gly120Gly|362/567|360/565|120/187||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.3309C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.3309C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.3309C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.3309C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.3309C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.3309C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.3309C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.3309C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.3309C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.3309C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.3309C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.3309C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.3309C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.3309C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.3309C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.3309C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.3309C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.3309C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.3309C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.3309C>T||||||,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1C>T|||||3050|,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913C>T|||||1448|,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253C>T|||||2277|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-3194C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|2/19|n.571C>T||||||,A|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|1/17|n.45C>T||||||,A|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron|1/3|n.117C>T|||||| 22 50720408 . C T . . ANN=T|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|20/37|c.3220G>A|p.Glu1074Lys|3329/6351|3220/5517|1074/1838||,T|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|20/37|c.3220G>A|p.Glu1074Lys|3361/6383|3220/5517|1074/1838||,T|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding|2/3|c.271G>A|p.Glu91Lys|273/567|271/565|91/187||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.3220G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.3220G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.3220G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.3220G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.3220G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.3220G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.3220G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.3220G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.3220G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.3220G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.3220G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.3220G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.3220G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.3220G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.3220G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.3220G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.3220G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.3220G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.3220G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.3220G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_3|ENST00000359337|protein_coding|19/37|c.3220G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_3|ENST00000359337|protein_coding|18/37|c.3220G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_3|ENST00000359337|protein_coding|20/37|c.3220G>A||||||,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1G>A|||||3139|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1G>A|||||45|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913G>A|||||1359|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253G>A|||||2188|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-3283G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|2/19|n.482G>A||||||,T|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron|1/3|n.28G>A|||||| 22 50720430 . G C . . ANN=C|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|20/37|c.3198C>G|p.Ala1066Ala|3307/6351|3198/5517|1066/1838||,C|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|20/37|c.3198C>G|p.Ala1066Ala|3339/6383|3198/5517|1066/1838||,C|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding|2/3|c.249C>G|p.Ala83Ala|251/567|249/565|83/187||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.3198C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.3198C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.3198C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.3198C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.3198C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.3198C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.3198C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.3198C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.3198C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.3198C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.3198C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.3198C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.3198C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.3198C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.3198C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.3198C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.3198C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.3198C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.3198C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.3198C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_3|ENST00000359337|protein_coding|19/37|c.3198C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_3|ENST00000359337|protein_coding|18/37|c.3198C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_3|ENST00000359337|protein_coding|20/37|c.3198C>G||||||,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1C>G|||||3161|,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1C>G|||||67|,C|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913C>G|||||1337|,C|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253C>G|||||2166|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-3305C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|2/19|n.460C>G||||||,C|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron|1/3|n.6C>G|||||| 22 50720580 . C T . . ANN=T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.3117+33G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.3117+33G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.3117+33G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.3117+33G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.3117+33G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.3117+33G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.3117+33G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.3117+33G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.3117+33G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.3117+33G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.3117+33G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.3117+33G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.3117+33G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.3117+33G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.3117+33G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.3117+33G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.3117+33G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.3117+33G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.3117+33G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.3117+33G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_3|ENST00000359337|protein_coding|19/37|c.3117+33G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_3|ENST00000359337|protein_coding|18/37|c.3117+33G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_3|ENST00000359337|protein_coding|20/37|c.3117+33G>A||||||,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1G>A|||||3311|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1G>A|||||217|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.-1G>A|||||145|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913G>A|||||1187|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253G>A|||||2016|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|19/36|c.3117+33G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|1/18|n.379+33G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|19/36|c.3117+33G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-3455G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding|1/2|c.169-70G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50720591 . C G . . ANN=G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.3117+22G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.3117+22G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.3117+22G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.3117+22G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.3117+22G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.3117+22G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.3117+22G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.3117+22G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.3117+22G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.3117+22G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.3117+22G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.3117+22G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.3117+22G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.3117+22G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.3117+22G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.3117+22G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.3117+22G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.3117+22G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.3117+22G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.3117+22G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_3|ENST00000359337|protein_coding|19/37|c.3117+22G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_3|ENST00000359337|protein_coding|18/37|c.3117+22G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_3|ENST00000359337|protein_coding|20/37|c.3117+22G>C||||||,G|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1G>C|||||3322|,G|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1G>C|||||228|,G|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.-1G>C|||||156|,G|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913G>C|||||1176|,G|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253G>C|||||2005|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|19/36|c.3117+22G>C||||||,G|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|1/18|n.379+22G>C||||||,G|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|19/36|c.3117+22G>C||||||,G|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-3466G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding|1/2|c.169-81G>C||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50720622 . C T . . ANN=T|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|19/37|c.3108G>A|p.Gln1036Gln|3217/6351|3108/5517|1036/1838||,T|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|19/37|c.3108G>A|p.Gln1036Gln|3249/6383|3108/5517|1036/1838||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.3108G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.3108G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.3108G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.3108G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.3108G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.3108G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.3108G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.3108G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.3108G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.3108G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.3108G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.3108G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.3108G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.3108G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.3108G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.3108G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.3108G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.3108G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.3108G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.3108G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_3|ENST00000359337|protein_coding|19/37|c.3108G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_3|ENST00000359337|protein_coding|18/37|c.3108G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_3|ENST00000359337|protein_coding|20/37|c.3108G>A||||||,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1G>A|||||3353|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1G>A|||||259|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.-1G>A|||||187|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913G>A|||||1145|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253G>A|||||1974|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-3497G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding|1/2|c.169-112G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|1/19|n.370G>A|||||| 22 50721118 . G C . . ANN=C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.2987+22C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.2987+22C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.2987+22C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.2987+22C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.2987+22C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.2987+22C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.2987+22C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.2987+22C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.2987+22C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.2987+22C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.2987+22C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.2987+22C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.2987+22C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.2987+22C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.2987+22C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.2987+22C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.2987+22C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.2987+22C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.2987+22C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.2987+22C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_3|ENST00000359337|protein_coding|19/37|c.2987+22C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_3|ENST00000359337|protein_coding|18/37|c.2987+22C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_3|ENST00000359337|protein_coding|20/37|c.2987+22C>G||||||,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1C>G|||||3849|,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.-1C>G|||||127|,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1C>G|||||755|,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.-1C>G|||||683|,C|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913C>G|||||649|,C|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253C>G|||||1478|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|18/36|c.2987+22C>G||||||,C|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|18/36|c.2987+22C>G||||||,C|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-3993C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding|1/2|c.168+22C>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50721170 . C T . . ANN=T|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|18/37|c.2957G>A|p.Arg986Gln|3066/6351|2957/5517|986/1838||,T|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|18/37|c.2957G>A|p.Arg986Gln|3098/6383|2957/5517|986/1838||,T|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding|1/3|c.138G>A|p.Ala46Ala|140/567|138/565|46/187||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.2957G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.2957G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.2957G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.2957G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.2957G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.2957G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.2957G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.2957G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.2957G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.2957G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.2957G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.2957G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.2957G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.2957G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.2957G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.2957G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.2957G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.2957G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.2957G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.2957G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_3|ENST00000359337|protein_coding|19/37|c.2957G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_3|ENST00000359337|protein_coding|18/37|c.2957G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_3|ENST00000359337|protein_coding|20/37|c.2957G>A||||||,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1G>A|||||3901|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.-1G>A|||||179|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1G>A|||||807|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.-1G>A|||||735|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913G>A|||||597|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253G>A|||||1426|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-4045G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50721177 . C T . . ANN=T|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|18/37|c.2950G>A|p.Val984Ile|3059/6351|2950/5517|984/1838||,T|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|18/37|c.2950G>A|p.Val984Ile|3091/6383|2950/5517|984/1838||,T|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding|1/3|c.131G>A|p.Arg44His|133/567|131/565|44/187||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.2950G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.2950G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.2950G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.2950G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.2950G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.2950G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.2950G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.2950G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.2950G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.2950G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.2950G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.2950G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.2950G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.2950G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.2950G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.2950G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.2950G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.2950G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.2950G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.2950G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_3|ENST00000359337|protein_coding|19/37|c.2950G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_3|ENST00000359337|protein_coding|18/37|c.2950G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_3|ENST00000359337|protein_coding|20/37|c.2950G>A||||||,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1G>A|||||3908|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.-1G>A|||||186|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1G>A|||||814|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.-1G>A|||||742|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913G>A|||||590|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253G>A|||||1419|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-4052G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50721188 . C T . . ANN=T|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|18/37|c.2939G>A|p.Arg980His|3048/6351|2939/5517|980/1838||,T|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|18/37|c.2939G>A|p.Arg980His|3080/6383|2939/5517|980/1838||,T|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding|1/3|c.120G>A|p.Pro40Pro|122/567|120/565|40/187||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.2939G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.2939G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.2939G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.2939G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.2939G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.2939G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.2939G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.2939G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.2939G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.2939G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.2939G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.2939G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.2939G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.2939G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.2939G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.2939G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.2939G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.2939G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.2939G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.2939G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_2|ENST00000359337|protein_coding|17/37|c.2939G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_2|ENST00000359337|protein_coding|18/37|c.2939G>A||||||,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1G>A|||||3919|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.-1G>A|||||197|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1G>A|||||825|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.-1G>A|||||753|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913G>A|||||579|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253G>A|||||1408|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-4063G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50721244 . C T . . ANN=T|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding|1/3|c.64G>A|p.Gly22Arg|66/567|64/565|22/187||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|18/37|c.2883G>A|p.Leu961Leu|2992/6351|2883/5517|961/1838||,T|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|18/37|c.2883G>A|p.Leu961Leu|3024/6383|2883/5517|961/1838||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.2883G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.2883G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.2883G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.2883G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.2883G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.2883G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.2883G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.2883G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.2883G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.2883G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.2883G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.2883G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.2883G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.2883G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.2883G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.2883G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.2883G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.2883G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.2883G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.2883G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_2|ENST00000359337|protein_coding|17/37|c.2883G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_2|ENST00000359337|protein_coding|18/37|c.2883G>A||||||,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1G>A|||||3975|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.-1G>A|||||253|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1G>A|||||881|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.-1G>A|||||809|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913G>A|||||523|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253G>A|||||1352|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-4119G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50721252 . T C . . ANN=C|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|18/37|c.2875A>G|p.Met959Val|2984/6351|2875/5517|959/1838||,C|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|18/37|c.2875A>G|p.Met959Val|3016/6383|2875/5517|959/1838||,C|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding|1/3|c.56A>G|p.Asp19Gly|58/567|56/565|19/187||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.2875A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.2875A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.2875A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.2875A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.2875A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.2875A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.2875A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.2875A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.2875A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.2875A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.2875A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.2875A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.2875A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.2875A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.2875A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.2875A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.2875A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.2875A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.2875A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.2875A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_2|ENST00000359337|protein_coding|17/37|c.2875A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_2|ENST00000359337|protein_coding|18/37|c.2875A>G||||||,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1A>G|||||3983|,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.-1A>G|||||261|,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1A>G|||||889|,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.-1A>G|||||817|,C|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913A>G|||||515|,C|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253A>G|||||1344|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-4127A>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50721295 . C T . . ANN=T|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding|1/3|c.13G>A|p.Ala5Thr|15/567|13/565|5/187||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|18/37|c.2832G>A|p.Ala944Ala|2941/6351|2832/5517|944/1838||,T|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|18/37|c.2832G>A|p.Ala944Ala|2973/6383|2832/5517|944/1838||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.2832G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.2832G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.2832G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.2832G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.2832G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.2832G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.2832G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.2832G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.2832G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.2832G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.2832G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.2832G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.2832G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.2832G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.2832G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.2832G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.2832G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.2832G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.2832G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.2832G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_2|ENST00000359337|protein_coding|17/37|c.2832G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_2|ENST00000359337|protein_coding|18/37|c.2832G>A||||||,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1G>A|||||4026|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.-1G>A|||||304|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1G>A|||||932|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.-1G>A|||||860|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913G>A|||||472|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253G>A|||||1301|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-4170G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50721296 . G A . . ANN=A|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|18/37|c.2831C>T|p.Ala944Val|2940/6351|2831/5517|944/1838||,A|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|18/37|c.2831C>T|p.Ala944Val|2972/6383|2831/5517|944/1838||,A|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding|1/3|c.12C>T|p.Gly4Gly|14/567|12/565|4/187||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.2831C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.2831C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.2831C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.2831C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.2831C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.2831C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.2831C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.2831C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.2831C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.2831C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.2831C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.2831C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.2831C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.2831C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.2831C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.2831C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.2831C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.2831C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.2831C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.2831C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_2|ENST00000359337|protein_coding|17/37|c.2831C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_2|ENST00000359337|protein_coding|18/37|c.2831C>T||||||,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1C>T|||||4027|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.-1C>T|||||305|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1C>T|||||933|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.-1C>T|||||861|,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913C>T|||||471|,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253C>T|||||1300|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-4171C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50721492 . C T . . ANN=T|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|17/37|c.2803G>A|p.Val935Ile|2912/6351|2803/5517|935/1838||,T|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|17/37|c.2803G>A|p.Val935Ile|2944/6383|2803/5517|935/1838||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.2803G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.2803G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.2803G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.2803G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.2803G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.2803G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.2803G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.2803G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.2803G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.2803G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.2803G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.2803G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.2803G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.2803G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.2803G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.2803G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.2803G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.2803G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.2803G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.2803G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_2|ENST00000359337|protein_coding|17/37|c.2803G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_2|ENST00000359337|protein_coding|18/37|c.2803G>A||||||,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1G>A|||||4223|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.-1G>A|||||501|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1G>A|||||1129|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.-1G>A|||||1057|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.-3G>A|||||183|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913G>A|||||275|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253G>A|||||1104|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding||c.*1620G>A|||||4924|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-4367G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50721497 . T C . . ANN=C|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|17/37|c.2798A>G|p.Asn933Ser|2907/6351|2798/5517|933/1838||,C|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|17/37|c.2798A>G|p.Asn933Ser|2939/6383|2798/5517|933/1838||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.2798A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.2798A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.2798A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.2798A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.2798A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.2798A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.2798A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.2798A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.2798A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.2798A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.2798A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.2798A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.2798A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.2798A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.2798A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.2798A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.2798A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.2798A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.2798A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.2798A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_2|ENST00000359337|protein_coding|17/37|c.2798A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_2|ENST00000359337|protein_coding|18/37|c.2798A>G||||||,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1A>G|||||4228|,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.-1A>G|||||506|,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1A>G|||||1134|,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.-1A>G|||||1062|,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.-3A>G|||||188|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913A>G|||||270|,C|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253A>G|||||1099|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding||c.*1620A>G|||||4919|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-4372A>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50721723 . C T . . ANN=T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.2679+43G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.2679+43G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.2679+43G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.2679+43G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.2679+43G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.2679+43G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.2679+43G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.2679+43G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.2679+43G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.2679+43G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.2679+43G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.2679+43G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.2679+43G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.2679+43G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.2679+43G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.2679+43G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.2679+43G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.2679+43G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.2679+43G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.2679+43G>A||||||,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1G>A|||||4454|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.-1G>A|||||732|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1G>A|||||1360|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.-1G>A|||||1288|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.-3G>A|||||414|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913G>A|||||44|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253G>A|||||873|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding||c.*1620G>A|||||4693|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|16/36|c.2679+43G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|16/36|c.2679+43G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-4598G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50721732 . C T . . ANN=T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.2679+34G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.2679+34G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.2679+34G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.2679+34G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.2679+34G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.2679+34G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.2679+34G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.2679+34G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.2679+34G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.2679+34G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.2679+34G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.2679+34G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.2679+34G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.2679+34G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.2679+34G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.2679+34G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.2679+34G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.2679+34G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.2679+34G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.2679+34G>A||||||,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1G>A|||||4463|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.-1G>A|||||741|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1G>A|||||1369|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.-1G>A|||||1297|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.-3G>A|||||423|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913G>A|||||35|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253G>A|||||864|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding||c.*1620G>A|||||4684|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|16/36|c.2679+34G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|16/36|c.2679+34G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-4607G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50721756 . G A . . ANN=A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.2679+10C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.2679+10C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.2679+10C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.2679+10C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.2679+10C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.2679+10C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.2679+10C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.2679+10C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.2679+10C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.2679+10C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.2679+10C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.2679+10C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.2679+10C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.2679+10C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.2679+10C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.2679+10C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.2679+10C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.2679+10C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.2679+10C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.2679+10C>T||||||,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1C>T|||||4487|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.-1C>T|||||765|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1C>T|||||1393|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.-1C>T|||||1321|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.-3C>T|||||447|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913C>T|||||11|,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253C>T|||||840|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding||c.*1620C>T|||||4660|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|16/36|c.2679+10C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|16/36|c.2679+10C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-4631C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50721758 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|16/36|c.2679+8C>T||||||,A|splice_region_variant&intron_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|16/36|c.2679+8C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.2679+8C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.2679+8C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.2679+8C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.2679+8C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.2679+8C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.2679+8C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.2679+8C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.2679+8C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.2679+8C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.2679+8C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.2679+8C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.2679+8C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.2679+8C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.2679+8C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.2679+8C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.2679+8C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.2679+8C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.2679+8C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.2679+8C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.2679+8C>T||||||,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1C>T|||||4489|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.-1C>T|||||767|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1C>T|||||1395|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.-1C>T|||||1323|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.-3C>T|||||449|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913C>T|||||9|,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253C>T|||||838|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding||c.*1620C>T|||||4658|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-4633C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50721835 . C T . . ANN=T|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|16/37|c.2610G>A|p.Thr870Thr|2719/6351|2610/5517|870/1838||,T|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|16/37|c.2610G>A|p.Thr870Thr|2751/6383|2610/5517|870/1838||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.2610G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.2610G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.2610G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.2610G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.2610G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.2610G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.2610G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.2610G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.2610G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.2610G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.2610G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.2610G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.2610G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.2610G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.2610G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.2610G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.2610G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.2610G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.2610G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.2610G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_1|ENST00000359337|protein_coding|16/37|c.2610G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_1|ENST00000359337|protein_coding|15/37|c.2610G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_1|ENST00000359337|protein_coding|14/37|c.2610G>A||||||,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1G>A|||||4566|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.-1G>A|||||844|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1G>A|||||1472|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.-1G>A|||||1400|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.-3G>A|||||526|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253G>A|||||761|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding||c.*1620G>A|||||4581|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-4710G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript|8/8|n.845G>A|||||| 22 50721879 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|15/36|c.2571-5G>A||||||,T|splice_region_variant&intron_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|15/36|c.2571-5G>A||||||,T|splice_region_variant&intron_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript|7/7|n.806-5G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.2571-5G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.2571-5G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.2571-5G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.2571-5G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.2571-5G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.2571-5G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.2571-5G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.2571-5G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.2571-5G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.2571-5G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.2571-5G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.2571-5G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.2571-5G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.2571-5G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.2571-5G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.2571-5G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.2571-5G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.2571-5G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.2571-5G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.2571-5G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_1|ENST00000359337|protein_coding|16/37|c.2571-5G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_1|ENST00000359337|protein_coding|15/37|c.2571-5G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_1|ENST00000359337|protein_coding|14/37|c.2571-5G>A||||||,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1G>A|||||4610|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.-1G>A|||||888|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1G>A|||||1516|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.-1G>A|||||1444|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.-3G>A|||||570|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253G>A|||||717|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding||c.*1620G>A|||||4537|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-4754G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50722007 . C T . . ANN=T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.2570+24G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.2570+24G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.2570+24G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.2570+24G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.2570+24G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.2570+24G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.2570+24G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.2570+24G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.2570+24G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.2570+24G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.2570+24G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.2570+24G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.2570+24G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.2570+24G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.2570+24G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.2570+24G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.2570+24G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.2570+24G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.2570+24G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.2570+24G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_1|ENST00000359337|protein_coding|16/37|c.2570+24G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_1|ENST00000359337|protein_coding|15/37|c.2570+24G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_1|ENST00000359337|protein_coding|14/37|c.2570+24G>A||||||,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1G>A|||||4738|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.-1G>A|||||1016|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1G>A|||||1644|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.-1G>A|||||1572|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.-3G>A|||||698|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253G>A|||||589|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding||c.*1620G>A|||||4409|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|15/36|c.2570+24G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|15/36|c.2570+24G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-4882G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript|7/7|n.805+24G>A|||||| 22 50722134 . T C . . ANN=C|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|15/37|c.2467A>G|p.Ile823Val|2576/6351|2467/5517|823/1838||,C|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|15/37|c.2467A>G|p.Ile823Val|2608/6383|2467/5517|823/1838||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.2467A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.2467A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.2467A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.2467A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.2467A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.2467A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.2467A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.2467A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.2467A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.2467A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.2467A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.2467A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.2467A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.2467A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.2467A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.2467A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.2467A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.2467A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.2467A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.2467A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_1|ENST00000359337|protein_coding|16/37|c.2467A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_1|ENST00000359337|protein_coding|15/37|c.2467A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_1|ENST00000359337|protein_coding|14/37|c.2467A>G||||||,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1A>G|||||4865|,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.-1A>G|||||1143|,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1A>G|||||1771|,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.-1A>G|||||1699|,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.-3A>G|||||825|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253A>G|||||462|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding||c.*1620A>G|||||4282|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-5009A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript|7/8|n.702A>G|||||| 22 50722167 . T C . . ANN=C|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|15/37|c.2434A>G|p.Thr812Ala|2543/6351|2434/5517|812/1838||,C|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|15/37|c.2434A>G|p.Thr812Ala|2575/6383|2434/5517|812/1838||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.2434A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.2434A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.2434A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.2434A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.2434A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.2434A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.2434A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.2434A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.2434A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.2434A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.2434A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.2434A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.2434A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.2434A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.2434A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.2434A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.2434A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.2434A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.2434A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.2434A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_1|ENST00000359337|protein_coding|16/37|c.2434A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_1|ENST00000359337|protein_coding|15/37|c.2434A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_1|ENST00000359337|protein_coding|14/37|c.2434A>G||||||,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1A>G|||||4898|,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.-1A>G|||||1176|,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1A>G|||||1804|,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.-1A>G|||||1732|,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.-3A>G|||||858|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253A>G|||||429|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding||c.*1620A>G|||||4249|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-5042A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript|7/8|n.669A>G|||||| 22 50722227 . G A . . ANN=A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.2421+35C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.2421+35C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.2421+35C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.2421+35C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.2421+35C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.2421+35C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.2421+35C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.2421+35C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.2421+35C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.2421+35C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.2421+35C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.2421+35C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.2421+35C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.2421+35C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.2421+35C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.2421+35C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.2421+35C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.2421+35C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.2421+35C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.2421+35C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_1|ENST00000359337|protein_coding|16/37|c.2421+35C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_1|ENST00000359337|protein_coding|15/37|c.2421+35C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_1|ENST00000359337|protein_coding|14/37|c.2421+35C>T||||||,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1C>T|||||4958|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.-1C>T|||||1236|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1C>T|||||1864|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.-1C>T|||||1792|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.-3C>T|||||918|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253C>T|||||369|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding||c.*1620C>T|||||4189|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|14/36|c.2421+35C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|14/36|c.2421+35C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-5102C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript|6/7|n.656+35C>T|||||| 22 50722277 . C T . . ANN=T|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|14/37|c.2406G>A|p.Pro802Pro|2515/6351|2406/5517|802/1838||,T|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|14/37|c.2406G>A|p.Pro802Pro|2547/6383|2406/5517|802/1838||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.2406G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.2406G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.2406G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.2406G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.2406G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.2406G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.2406G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.2406G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.2406G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.2406G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.2406G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.2406G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.2406G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.2406G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.2406G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.2406G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.2406G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.2406G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.2406G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.2406G>A||||||,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.-1G>A|||||1286|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1G>A|||||1914|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.-1G>A|||||1842|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.-3G>A|||||968|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253G>A|||||319|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding||c.*1620G>A|||||4139|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.202+5138G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript|6/8|n.641G>A|||||| 22 50722289 . G A . . ANN=A|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|14/37|c.2394C>T|p.Ser798Ser|2503/6351|2394/5517|798/1838||,A|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|14/37|c.2394C>T|p.Ser798Ser|2535/6383|2394/5517|798/1838||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.2394C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.2394C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.2394C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.2394C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.2394C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.2394C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.2394C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.2394C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.2394C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.2394C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.2394C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.2394C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.2394C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.2394C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.2394C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.2394C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.2394C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.2394C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.2394C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.2394C>T||||||,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.-1C>T|||||1298|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1C>T|||||1926|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.-1C>T|||||1854|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.-3C>T|||||980|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253C>T|||||307|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding||c.*1620C>T|||||4127|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.202+5126C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript|6/8|n.629C>T|||||| 22 50722408 . T C . . ANN=C|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|14/37|c.2275A>G|p.Asn759Asp|2384/6351|2275/5517|759/1838||,C|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|14/37|c.2275A>G|p.Asn759Asp|2416/6383|2275/5517|759/1838||,C|sequence_feature|MODERATE|PLXNB2|ENSG00000196576|glycosylation_site:N-linked__GlcNAc..._|ENST00000359337|protein_coding|14/37|c.2275A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.2275A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.2275A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.2275A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.2275A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.2275A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.2275A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.2275A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.2275A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.2275A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.2275A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.2275A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.2275A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.2275A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.2275A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.2275A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.2275A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.2275A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.2275A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.2275A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.2275A>G||||||,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.-1A>G|||||1417|,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1A>G|||||2045|,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.-1A>G|||||1973|,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.-3A>G|||||1099|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253A>G|||||188|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding||c.*1620A>G|||||4008|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.202+5007A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript|6/8|n.510A>G|||||| 22 50722424 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|13/36|c.2264-5C>T||||||,A|splice_region_variant&intron_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|13/36|c.2264-5C>T||||||,A|splice_region_variant&intron_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript|5/7|n.499-5C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.2264-5C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.2264-5C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.2264-5C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.2264-5C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.2264-5C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.2264-5C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.2264-5C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.2264-5C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.2264-5C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.2264-5C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.2264-5C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.2264-5C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.2264-5C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.2264-5C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.2264-5C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.2264-5C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.2264-5C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.2264-5C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.2264-5C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.2264-5C>T||||||,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.-1C>T|||||1433|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1C>T|||||2061|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.-1C>T|||||1989|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.-3C>T|||||1115|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253C>T|||||172|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding||c.*1620C>T|||||3992|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.202+4991C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50722468 . G A . . ANN=A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.2264-49C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.2264-49C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.2264-49C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.2264-49C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.2264-49C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.2264-49C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.2264-49C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.2264-49C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.2264-49C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.2264-49C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.2264-49C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.2264-49C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.2264-49C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.2264-49C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.2264-49C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.2264-49C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.2264-49C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.2264-49C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.2264-49C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.2264-49C>T||||||,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.-1C>T|||||1477|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1C>T|||||2105|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.-1C>T|||||2033|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.-3C>T|||||1159|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253C>T|||||128|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding||c.*1620C>T|||||3948|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|13/36|c.2264-49C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|13/36|c.2264-49C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.202+4947C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript|5/7|n.499-49C>T|||||| 22 50722534 . G A . . ANN=A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.2263+27C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.2263+27C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.2263+27C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.2263+27C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.2263+27C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.2263+27C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.2263+27C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.2263+27C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.2263+27C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.2263+27C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.2263+27C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.2263+27C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.2263+27C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.2263+27C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.2263+27C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.2263+27C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.2263+27C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.2263+27C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.2263+27C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.2263+27C>T||||||,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.-1C>T|||||1543|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1C>T|||||2171|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.-1C>T|||||2099|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.-3C>T|||||1225|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253C>T|||||62|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding||c.*1620C>T|||||3882|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|13/36|c.2263+27C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|13/36|c.2263+27C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.202+4881C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript|5/7|n.498+27C>T|||||| 22 50722646 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|12/36|c.2182-4C>T||||||,A|splice_region_variant&intron_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|12/36|c.2182-4C>T||||||,A|splice_region_variant&intron_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding|3/3|c.205-4C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.2182-4C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.2182-4C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.2182-4C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.2182-4C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.2182-4C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.2182-4C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.2182-4C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.2182-4C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.2182-4C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.2182-4C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.2182-4C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.2182-4C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.2182-4C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.2182-4C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.2182-4C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.2182-4C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.2182-4C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.2182-4C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.2182-4C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.2182-4C>T||||||,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.-1C>T|||||1655|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1C>T|||||2283|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.-1C>T|||||2211|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.-3C>T|||||1337|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding||c.*1620C>T|||||3770|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.202+4769C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript|5/8|n.413C>T|||||| 22 50722685 . G A . . ANN=A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.2182-43C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.2182-43C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.2182-43C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.2182-43C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.2182-43C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.2182-43C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.2182-43C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.2182-43C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.2182-43C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.2182-43C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.2182-43C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.2182-43C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.2182-43C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.2182-43C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.2182-43C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.2182-43C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.2182-43C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.2182-43C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.2182-43C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.2182-43C>T||||||,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.-1C>T|||||1694|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1C>T|||||2322|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.-1C>T|||||2250|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.-3C>T|||||1376|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding||c.*1620C>T|||||3731|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|12/36|c.2182-43C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|12/36|c.2182-43C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.202+4730C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript|4/7|n.386-12C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding|3/3|c.205-43C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50722691 . C T . . ANN=T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.2182-49G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.2182-49G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.2182-49G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.2182-49G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.2182-49G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.2182-49G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.2182-49G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.2182-49G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.2182-49G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.2182-49G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.2182-49G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.2182-49G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.2182-49G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.2182-49G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.2182-49G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.2182-49G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.2182-49G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.2182-49G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.2182-49G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.2182-49G>A||||||,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.-1G>A|||||1700|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1G>A|||||2328|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.-1G>A|||||2256|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.-3G>A|||||1382|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding||c.*1620G>A|||||3725|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|12/36|c.2182-49G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|12/36|c.2182-49G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.202+4724G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript|4/7|n.386-18G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding|3/3|c.205-49G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50723013 . G A . . ANN=A|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|12/37|c.2170C>T|p.Arg724Trp|2279/6351|2170/5517|724/1838||,A|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|12/37|c.2170C>T|p.Arg724Trp|2311/6383|2170/5517|724/1838||,A|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding|3/4|c.193C>T|p.Arg65Trp|195/253|193/251|65/82||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.2170C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.2170C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.2170C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.2170C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.2170C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.2170C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.2170C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.2170C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.2170C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.2170C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.2170C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.2170C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.2170C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.2170C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.2170C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.2170C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.2170C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.2170C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.2170C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.2170C>T||||||,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.-1C>T|||||2022|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1C>T|||||2650|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.-1C>T|||||2578|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.-3C>T|||||1704|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding||c.*1620C>T|||||3403|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.202+4402C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript|4/8|n.374C>T|||||| 22 50724190 . G T . . ANN=T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.2088+39C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.2088+39C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.2088+39C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.2088+39C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.2088+39C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.2088+39C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.2088+39C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.2088+39C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.2088+39C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.2088+39C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.2088+39C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.2088+39C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.2088+39C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.2088+39C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.2088+39C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.2088+39C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.2088+39C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.2088+39C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.2088+39C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.2088+39C>A||||||,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.-1C>A|||||3199|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1C>A|||||3827|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.-1C>A|||||3755|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.-3C>A|||||2881|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding||c.*1620C>A|||||2226|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000425954|protein_coding||c.*609C>A|||||4339|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|11/36|c.2088+39C>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|11/36|c.2088+39C>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.202+3225C>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript|3/7|n.292+39C>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding|1/3|c.42+39C>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50724206 . A G . . ANN=G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.2088+23T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.2088+23T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.2088+23T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.2088+23T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.2088+23T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.2088+23T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.2088+23T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.2088+23T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.2088+23T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.2088+23T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.2088+23T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.2088+23T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.2088+23T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.2088+23T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.2088+23T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.2088+23T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.2088+23T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.2088+23T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.2088+23T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.2088+23T>C||||||,G|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.-1T>C|||||3215|,G|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1T>C|||||3843|,G|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.-1T>C|||||3771|,G|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.-3T>C|||||2897|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding||c.*1620T>C|||||2210|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000425954|protein_coding||c.*609T>C|||||4323|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|11/36|c.2088+23T>C||||||,G|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|11/36|c.2088+23T>C||||||,G|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.202+3209T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript|3/7|n.292+23T>C||||||,G|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding|1/3|c.42+23T>C||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50724207 . G A . . ANN=A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.2088+22C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.2088+22C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.2088+22C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.2088+22C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.2088+22C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.2088+22C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.2088+22C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.2088+22C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.2088+22C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.2088+22C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.2088+22C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.2088+22C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.2088+22C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.2088+22C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.2088+22C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.2088+22C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.2088+22C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.2088+22C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.2088+22C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.2088+22C>T||||||,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.-1C>T|||||3216|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1C>T|||||3844|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.-1C>T|||||3772|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.-3C>T|||||2898|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding||c.*1620C>T|||||2209|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000425954|protein_coding||c.*609C>T|||||4322|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|11/36|c.2088+22C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|11/36|c.2088+22C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.202+3208C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript|3/7|n.292+22C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding|1/3|c.42+22C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50724401 . G C . . ANN=C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.1986+18C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.1986+18C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.1986+18C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.1986+18C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.1986+18C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.1986+18C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.1986+18C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.1986+18C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.1986+18C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.1986+18C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.1986+18C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.1986+18C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.1986+18C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.1986+18C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.1986+18C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.1986+18C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.1986+18C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.1986+18C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.1986+18C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.1986+18C>G||||||,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.-1C>G|||||3410|,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1C>G|||||4038|,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.-1C>G|||||3966|,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.-3C>G|||||3092|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.-3C>G|||||129|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding||c.*1620C>G|||||2015|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000425954|protein_coding||c.*609C>G|||||4128|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|10/36|c.1986+18C>G||||||,C|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|10/36|c.1986+18C>G||||||,C|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.202+3014C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript|2/7|n.190+18C>G|||||| 22 50724515 . G A . . ANN=A|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|10/37|c.1890C>T|p.Cys630Cys|1999/6351|1890/5517|630/1838||,A|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|10/37|c.1890C>T|p.Cys630Cys|2031/6383|1890/5517|630/1838||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.1890C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.1890C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.1890C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.1890C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.1890C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.1890C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.1890C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.1890C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.1890C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.1890C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.1890C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.1890C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.1890C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.1890C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.1890C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.1890C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.1890C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.1890C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.1890C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.1890C>T||||||,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.-1C>T|||||3524|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1C>T|||||4152|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.-1C>T|||||4080|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.-3C>T|||||3206|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.-3C>T|||||243|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding||c.*1620C>T|||||1901|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000425954|protein_coding||c.*609C>T|||||4014|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.202+2900C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript|2/8|n.94C>T|||||| 22 50724593 . G A . . ANN=A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.1877+9C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.1877+9C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.1877+9C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.1877+9C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.1877+9C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.1877+9C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.1877+9C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.1877+9C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.1877+9C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.1877+9C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.1877+9C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.1877+9C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.1877+9C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.1877+9C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.1877+9C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.1877+9C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.1877+9C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.1877+9C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.1877+9C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.1877+9C>T||||||,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.-1C>T|||||3602|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1C>T|||||4230|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.-1C>T|||||4158|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.-3C>T|||||3284|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.-3C>T|||||321|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding||c.*1620C>T|||||1823|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000425954|protein_coding||c.*609C>T|||||3936|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|9/36|c.1877+9C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|9/36|c.1877+9C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.202+2822C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript|1/7|n.81+9C>T|||||| 22 50724666 . G A . . ANN=A|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|9/37|c.1813C>T|p.Leu605Phe|1922/6351|1813/5517|605/1838||,A|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|9/37|c.1813C>T|p.Leu605Phe|1954/6383|1813/5517|605/1838||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.1813C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.1813C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.1813C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.1813C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.1813C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.1813C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.1813C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.1813C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.1813C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.1813C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.1813C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.1813C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.1813C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.1813C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.1813C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.1813C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.1813C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.1813C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.1813C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.1813C>T||||||,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.-1C>T|||||3675|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1C>T|||||4303|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.-1C>T|||||4231|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.-3C>T|||||3357|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.-3C>T|||||394|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding||c.*1620C>T|||||1750|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000425954|protein_coding||c.*609C>T|||||3863|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.202+2749C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript|1/8|n.17C>T|||||| 22 50724731 . G T . . ANN=T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.1763-15C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.1763-15C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.1763-15C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.1763-15C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.1763-15C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.1763-15C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.1763-15C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.1763-15C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.1763-15C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.1763-15C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.1763-15C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.1763-15C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.1763-15C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.1763-15C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.1763-15C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.1763-15C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.1763-15C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.1763-15C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.1763-15C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.1763-15C>A||||||,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.-1C>A|||||3740|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1C>A|||||4368|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.-1C>A|||||4296|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.-3C>A|||||3422|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.-1C>A|||||49|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.-3C>A|||||459|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding||c.*1620C>A|||||1685|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000425954|protein_coding||c.*609C>A|||||3798|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|8/36|c.1763-15C>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|8/36|c.1763-15C>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.202+2684C>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50724733 . G T . . ANN=T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.1763-17C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.1763-17C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.1763-17C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.1763-17C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.1763-17C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.1763-17C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.1763-17C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.1763-17C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.1763-17C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.1763-17C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.1763-17C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.1763-17C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.1763-17C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.1763-17C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.1763-17C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.1763-17C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.1763-17C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.1763-17C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.1763-17C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.1763-17C>A||||||,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.-1C>A|||||3742|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1C>A|||||4370|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.-1C>A|||||4298|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.-3C>A|||||3424|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.-1C>A|||||51|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.-3C>A|||||461|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding||c.*1620C>A|||||1683|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000425954|protein_coding||c.*609C>A|||||3796|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|8/36|c.1763-17C>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|8/36|c.1763-17C>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.202+2682C>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50724751 . G A . . ANN=A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.1763-35C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.1763-35C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.1763-35C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.1763-35C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.1763-35C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.1763-35C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.1763-35C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.1763-35C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.1763-35C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.1763-35C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.1763-35C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.1763-35C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.1763-35C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.1763-35C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.1763-35C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.1763-35C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.1763-35C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.1763-35C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.1763-35C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.1763-35C>T||||||,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.-1C>T|||||3760|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1C>T|||||4388|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.-1C>T|||||4316|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.-3C>T|||||3442|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.-1C>T|||||69|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.-3C>T|||||479|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding||c.*1620C>T|||||1665|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000425954|protein_coding||c.*609C>T|||||3778|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|8/36|c.1763-35C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|8/36|c.1763-35C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.202+2664C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50725514 . C T . . ANN=T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.1762+26G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.1762+26G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.1762+26G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.1762+26G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.1762+26G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.1762+26G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.1762+26G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.1762+26G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.1762+26G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.1762+26G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.1762+26G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.1762+26G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.1762+26G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.1762+26G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.1762+26G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.1762+26G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.1762+26G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.1762+26G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.1762+26G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.1762+26G>A||||||,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.-1G>A|||||4523|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.-3G>A|||||4205|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.-1G>A|||||832|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.-3G>A|||||1242|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding||c.*1620G>A|||||902|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000425954|protein_coding||c.*609G>A|||||3015|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|8/36|c.1762+26G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|8/36|c.1762+26G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.202+1901G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50725516 . C T . . ANN=T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.1762+24G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.1762+24G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.1762+24G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.1762+24G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.1762+24G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.1762+24G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.1762+24G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.1762+24G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.1762+24G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.1762+24G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.1762+24G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.1762+24G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.1762+24G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.1762+24G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.1762+24G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.1762+24G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.1762+24G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.1762+24G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.1762+24G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.1762+24G>A||||||,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.-1G>A|||||4525|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.-3G>A|||||4207|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.-1G>A|||||834|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.-3G>A|||||1244|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding||c.*1620G>A|||||900|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000425954|protein_coding||c.*609G>A|||||3013|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|8/36|c.1762+24G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|8/36|c.1762+24G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.202+1899G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50725553 . T C . . 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G T . . ANN=T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.1482-15C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.1482-15C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.1482-15C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.1482-15C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.1482-15C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.1482-15C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.1482-15C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.1482-15C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.1482-15C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.1482-15C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.1482-15C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.1482-15C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.1482-15C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.1482-15C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.1482-15C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.1482-15C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.1482-15C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.1482-15C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.1482-15C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.1482-15C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|disulfide_bond|ENST00000359337|protein_coding|6/37|c.1482-15C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|disulfide_bond|ENST00000359337|protein_coding|7/37|c.1482-15C>A||||||,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.-3C>A|||||4928|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.-1C>A|||||1555|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.-3C>A|||||1965|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding||c.*1620C>A|||||179|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000425954|protein_coding||c.*609C>A|||||2292|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|6/36|c.1482-15C>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|6/36|c.1482-15C>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.202+1178C>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50726240 . G A . . ANN=A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.1482-18C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.1482-18C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.1482-18C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.1482-18C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.1482-18C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.1482-18C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.1482-18C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.1482-18C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.1482-18C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.1482-18C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.1482-18C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.1482-18C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.1482-18C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.1482-18C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.1482-18C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.1482-18C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.1482-18C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.1482-18C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.1482-18C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.1482-18C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|disulfide_bond|ENST00000359337|protein_coding|6/37|c.1482-18C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|disulfide_bond|ENST00000359337|protein_coding|7/37|c.1482-18C>T||||||,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.-3C>T|||||4931|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.-1C>T|||||1558|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.-3C>T|||||1968|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding||c.*1620C>T|||||176|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000425954|protein_coding||c.*609C>T|||||2289|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|6/36|c.1482-18C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|6/36|c.1482-18C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.202+1175C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50726477 . G A . . ANN=A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.1381-11C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.1381-11C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.1381-11C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.1381-11C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.1381-11C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.1381-11C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.1381-11C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.1381-11C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.1381-11C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.1381-11C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.1381-11C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.1381-11C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.1381-11C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.1381-11C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.1381-11C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.1381-11C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.1381-11C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.1381-11C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.1381-11C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.1381-11C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|6/37|c.1381-11C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|3/37|c.1381-11C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|4/37|c.1381-11C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|5/37|c.1381-11C>T||||||,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.-1C>T|||||1795|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.-3C>T|||||2205|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000425954|protein_coding||c.*609C>T|||||2052|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|5/36|c.1381-11C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|5/36|c.1381-11C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.202+938C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding|5/5|c.1381-11C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 50726510 . C T . . ANN=T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.1381-44G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.1381-44G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.1381-44G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.1381-44G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.1381-44G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.1381-44G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.1381-44G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.1381-44G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.1381-44G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.1381-44G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.1381-44G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.1381-44G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.1381-44G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.1381-44G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.1381-44G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.1381-44G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.1381-44G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.1381-44G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.1381-44G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.1381-44G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|6/37|c.1381-44G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|3/37|c.1381-44G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|4/37|c.1381-44G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|5/37|c.1381-44G>A||||||,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.-1G>A|||||1828|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.-3G>A|||||2238|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000425954|protein_coding||c.*609G>A|||||2019|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|5/36|c.1381-44G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|5/36|c.1381-44G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.202+905G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding|5/5|c.1381-44G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 50727152 . C T . . ANN=T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.1380+20G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.1380+20G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.1380+20G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.1380+20G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.1380+20G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.1380+20G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.1380+20G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.1380+20G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.1380+20G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.1380+20G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.1380+20G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.1380+20G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.1380+20G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.1380+20G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.1380+20G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.1380+20G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.1380+20G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.1380+20G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.1380+20G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.1380+20G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|6/37|c.1380+20G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|3/37|c.1380+20G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|4/37|c.1380+20G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|5/37|c.1380+20G>A||||||,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.-1G>A|||||2470|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.-3G>A|||||2880|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000425954|protein_coding||c.*609G>A|||||1377|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|5/36|c.1380+20G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|5/36|c.1380+20G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.202+263G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding|5/5|c.1380+20G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 50727290 . G A . . ANN=A|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|5/37|c.1262C>T|p.Thr421Ile|1371/6351|1262/5517|421/1838||,A|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|5/37|c.1262C>T|p.Thr421Ile|1403/6383|1262/5517|421/1838||,A|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding|5/6|c.1262C>T|p.Thr421Ile|1451/1620|1262/1431|421/476||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.1262C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.1262C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.1262C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.1262C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.1262C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.1262C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.1262C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.1262C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.1262C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.1262C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.1262C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.1262C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.1262C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.1262C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.1262C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.1262C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.1262C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.1262C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.1262C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.1262C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|6/37|c.1262C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|3/37|c.1262C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|4/37|c.1262C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|5/37|c.1262C>T||||||,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.-1C>T|||||2608|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.-3C>T|||||3018|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000425954|protein_coding||c.*609C>T|||||1239|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.202+125C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50727327 . G T . . ANN=T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.1252-27C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.1252-27C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.1252-27C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.1252-27C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.1252-27C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.1252-27C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.1252-27C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.1252-27C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.1252-27C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.1252-27C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.1252-27C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.1252-27C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.1252-27C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.1252-27C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.1252-27C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.1252-27C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.1252-27C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.1252-27C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.1252-27C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.1252-27C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|6/37|c.1252-27C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|3/37|c.1252-27C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|4/37|c.1252-27C>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|5/37|c.1252-27C>A||||||,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.-1C>A|||||2645|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.-3C>A|||||3055|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000425954|protein_coding||c.*609C>A|||||1202|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|4/36|c.1252-27C>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|4/36|c.1252-27C>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.202+88C>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding|4/5|c.1252-27C>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 50727333 . G A . . ANN=A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.1252-33C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.1252-33C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.1252-33C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.1252-33C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.1252-33C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.1252-33C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.1252-33C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.1252-33C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.1252-33C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.1252-33C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.1252-33C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.1252-33C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.1252-33C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.1252-33C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.1252-33C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.1252-33C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.1252-33C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.1252-33C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.1252-33C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.1252-33C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|6/37|c.1252-33C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|3/37|c.1252-33C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|4/37|c.1252-33C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|5/37|c.1252-33C>T||||||,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.-1C>T|||||2651|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.-3C>T|||||3061|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000425954|protein_coding||c.*609C>T|||||1196|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|4/36|c.1252-33C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|4/36|c.1252-33C>T||||||,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.202+82C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding|4/5|c.1252-33C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 50727399 . C T . . ANN=T|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|4/37|c.1241G>A|p.Arg414Gln|1350/6351|1241/5517|414/1838||,T|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|4/37|c.1241G>A|p.Arg414Gln|1382/6383|1241/5517|414/1838||,T|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding|4/6|c.1241G>A|p.Arg414Gln|1430/1620|1241/1431|414/476||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.1241G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.1241G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.1241G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.1241G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.1241G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.1241G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.1241G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.1241G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.1241G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.1241G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.1241G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.1241G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.1241G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.1241G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.1241G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.1241G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.1241G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.1241G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.1241G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.1241G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|6/37|c.1241G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|3/37|c.1241G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|4/37|c.1241G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|5/37|c.1241G>A||||||,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.-1G>A|||||2717|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.-3G>A|||||3127|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000425954|protein_coding||c.*609G>A|||||1130|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.202+16G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50727443 . G C . . ANN=C|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|4/37|c.1197C>G|p.Ala399Ala|1306/6351|1197/5517|399/1838||,C|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|4/37|c.1197C>G|p.Ala399Ala|1338/6383|1197/5517|399/1838||,C|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/6|c.174C>G|p.Ala58Ala|174/704|174/704|58/233||WARNING_TRANSCRIPT_INCOMPLETE,C|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding|4/6|c.1197C>G|p.Ala399Ala|1386/1620|1197/1431|399/476||WARNING_TRANSCRIPT_NO_STOP_CODON,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.1197C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.1197C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.1197C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.1197C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.1197C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.1197C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.1197C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.1197C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.1197C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.1197C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.1197C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.1197C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.1197C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.1197C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.1197C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.1197C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.1197C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.1197C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.1197C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.1197C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|6/37|c.1197C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|3/37|c.1197C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|4/37|c.1197C>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|5/37|c.1197C>G||||||,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.-1C>G|||||2761|,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.-3C>G|||||3171|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000425954|protein_coding||c.*609C>G|||||1086|WARNING_TRANSCRIPT_INCOMPLETE 22 50727512 . G A . . ANN=A|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|4/37|c.1128C>T|p.Arg376Arg|1237/6351|1128/5517|376/1838||,A|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|4/37|c.1128C>T|p.Arg376Arg|1269/6383|1128/5517|376/1838||,A|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/6|c.105C>T|p.Arg35Arg|105/704|105/704|35/233||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding|4/6|c.1128C>T|p.Arg376Arg|1317/1620|1128/1431|376/476||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.1128C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.1128C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.1128C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.1128C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.1128C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.1128C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.1128C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.1128C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.1128C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.1128C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.1128C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.1128C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.1128C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.1128C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.1128C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.1128C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.1128C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.1128C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.1128C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.1128C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|6/37|c.1128C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|3/37|c.1128C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|4/37|c.1128C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|5/37|c.1128C>T||||||,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.-1C>T|||||2830|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.-3C>T|||||3240|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000425954|protein_coding||c.*609C>T|||||1017|WARNING_TRANSCRIPT_INCOMPLETE 22 50727513 . C T . . ANN=T|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|4/37|c.1127G>A|p.Arg376His|1236/6351|1127/5517|376/1838||,T|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|4/37|c.1127G>A|p.Arg376His|1268/6383|1127/5517|376/1838||,T|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/6|c.104G>A|p.Arg35His|104/704|104/704|35/233||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding|4/6|c.1127G>A|p.Arg376His|1316/1620|1127/1431|376/476||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.1127G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.1127G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.1127G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.1127G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.1127G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.1127G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.1127G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.1127G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.1127G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.1127G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.1127G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.1127G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.1127G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.1127G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.1127G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.1127G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.1127G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.1127G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.1127G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.1127G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|6/37|c.1127G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|3/37|c.1127G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|4/37|c.1127G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|5/37|c.1127G>A||||||,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.-1G>A|||||2831|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.-3G>A|||||3241|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000425954|protein_coding||c.*609G>A|||||1016|WARNING_TRANSCRIPT_INCOMPLETE 22 50727576 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|3/36|c.1069-5C>T||||||,A|splice_region_variant&intron_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|3/36|c.1069-5C>T||||||,A|splice_region_variant&intron_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|1/5|c.46-5C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|splice_region_variant&intron_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding|3/5|c.1069-5C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.1069-5C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.1069-5C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.1069-5C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.1069-5C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.1069-5C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.1069-5C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.1069-5C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.1069-5C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.1069-5C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.1069-5C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.1069-5C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.1069-5C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.1069-5C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.1069-5C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.1069-5C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.1069-5C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.1069-5C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.1069-5C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.1069-5C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.1069-5C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|6/37|c.1069-5C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|3/37|c.1069-5C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|4/37|c.1069-5C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|5/37|c.1069-5C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|disulfide_bond|ENST00000359337|protein_coding|3/37|c.1069-5C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|disulfide_bond|ENST00000359337|protein_coding|4/37|c.1069-5C>T||||||,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.-1C>T|||||2894|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.-3C>T|||||3304|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000425954|protein_coding||c.*609C>T|||||953|WARNING_TRANSCRIPT_INCOMPLETE 22 50727899 . C T . . ANN=T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.1068+47G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.1068+47G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.1068+47G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.1068+47G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.1068+47G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.1068+47G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.1068+47G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.1068+47G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.1068+47G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.1068+47G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.1068+47G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.1068+47G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.1068+47G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.1068+47G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.1068+47G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.1068+47G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.1068+47G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.1068+47G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.1068+47G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.1068+47G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|6/37|c.1068+47G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|3/37|c.1068+47G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|4/37|c.1068+47G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|5/37|c.1068+47G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|disulfide_bond|ENST00000359337|protein_coding|3/37|c.1068+47G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|disulfide_bond|ENST00000359337|protein_coding|4/37|c.1068+47G>A||||||,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.-1G>A|||||3217|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.-3G>A|||||3627|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000425954|protein_coding||c.*609G>A|||||630|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|3/36|c.1068+47G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|3/36|c.1068+47G>A||||||,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|1/5|c.45+47G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding|3/5|c.1068+47G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 50727921 . T C . . ANN=C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.1068+25A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.1068+25A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.1068+25A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.1068+25A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.1068+25A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.1068+25A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.1068+25A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.1068+25A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.1068+25A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.1068+25A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.1068+25A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.1068+25A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.1068+25A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.1068+25A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.1068+25A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.1068+25A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.1068+25A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.1068+25A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.1068+25A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.1068+25A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|6/37|c.1068+25A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|3/37|c.1068+25A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|4/37|c.1068+25A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|5/37|c.1068+25A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|disulfide_bond|ENST00000359337|protein_coding|3/37|c.1068+25A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|disulfide_bond|ENST00000359337|protein_coding|4/37|c.1068+25A>G||||||,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.-1A>G|||||3239|,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.-3A>G|||||3649|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000425954|protein_coding||c.*609A>G|||||608|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|3/36|c.1068+25A>G||||||,C|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|3/36|c.1068+25A>G||||||,C|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|1/5|c.45+25A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding|3/5|c.1068+25A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 50728062 . T C . . ANN=C|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|3/37|c.952A>G|p.Lys318Glu|1061/6351|952/5517|318/1838||,C|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|3/37|c.952A>G|p.Lys318Glu|1093/6383|952/5517|318/1838||,C|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding|3/6|c.952A>G|p.Lys318Glu|1141/1620|952/1431|318/476||WARNING_TRANSCRIPT_NO_STOP_CODON,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.952A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.952A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.952A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.952A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.952A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.952A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.952A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.952A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.952A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.952A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.952A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.952A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.952A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.952A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.952A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.952A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.952A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.952A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.952A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.952A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|6/37|c.952A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|3/37|c.952A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|4/37|c.952A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|5/37|c.952A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|disulfide_bond|ENST00000359337|protein_coding|3/37|c.952A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|disulfide_bond|ENST00000359337|protein_coding|4/37|c.952A>G||||||,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding||c.-1A>G|||||72|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.-1A>G|||||3380|,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.-3A>G|||||3790|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000425954|protein_coding||c.*609A>G|||||467|WARNING_TRANSCRIPT_INCOMPLETE 22 50728168 . G A . . ANN=A|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|3/37|c.846C>T|p.Ala282Ala|955/6351|846/5517|282/1838||,A|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|3/37|c.846C>T|p.Ala282Ala|987/6383|846/5517|282/1838||,A|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding|3/6|c.846C>T|p.Ala282Ala|1035/1620|846/1431|282/476||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.846C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.846C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.846C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.846C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.846C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.846C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.846C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.846C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.846C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.846C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.846C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.846C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.846C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.846C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.846C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.846C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.846C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.846C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.846C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.846C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|6/37|c.846C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|3/37|c.846C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|4/37|c.846C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|5/37|c.846C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|disulfide_bond|ENST00000359337|protein_coding|3/37|c.846C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|disulfide_bond|ENST00000359337|protein_coding|4/37|c.846C>T||||||,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding||c.-1C>T|||||178|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.-1C>T|||||3486|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.-3C>T|||||3896|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000425954|protein_coding||c.*609C>T|||||361|WARNING_TRANSCRIPT_INCOMPLETE 22 50728170 . C T . . ANN=T|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|3/37|c.844G>A|p.Ala282Thr|953/6351|844/5517|282/1838||,T|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|3/37|c.844G>A|p.Ala282Thr|985/6383|844/5517|282/1838||,T|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding|3/6|c.844G>A|p.Ala282Thr|1033/1620|844/1431|282/476||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.844G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.844G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.844G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.844G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.844G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.844G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.844G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.844G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.844G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.844G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.844G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.844G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.844G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.844G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.844G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.844G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.844G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.844G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.844G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.844G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|6/37|c.844G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|3/37|c.844G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|4/37|c.844G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|5/37|c.844G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|disulfide_bond|ENST00000359337|protein_coding|3/37|c.844G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|disulfide_bond|ENST00000359337|protein_coding|4/37|c.844G>A||||||,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding||c.-1G>A|||||180|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.-1G>A|||||3488|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.-3G>A|||||3898|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000425954|protein_coding||c.*609G>A|||||359|WARNING_TRANSCRIPT_INCOMPLETE 22 50728219 . C G . . ANN=G|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|3/37|c.795G>C|p.Gln265His|904/6351|795/5517|265/1838||,G|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|3/37|c.795G>C|p.Gln265His|936/6383|795/5517|265/1838||,G|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding|3/6|c.795G>C|p.Gln265His|984/1620|795/1431|265/476||WARNING_TRANSCRIPT_NO_STOP_CODON,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.795G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.795G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.795G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.795G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.795G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.795G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.795G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.795G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.795G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.795G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.795G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.795G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.795G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.795G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.795G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.795G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.795G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.795G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.795G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.795G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|6/37|c.795G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|3/37|c.795G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|4/37|c.795G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|5/37|c.795G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|disulfide_bond|ENST00000359337|protein_coding|3/37|c.795G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|disulfide_bond|ENST00000359337|protein_coding|4/37|c.795G>C||||||,G|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding||c.-1G>C|||||229|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.-1G>C|||||3537|,G|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.-3G>C|||||3947|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000425954|protein_coding||c.*609G>C|||||310|WARNING_TRANSCRIPT_INCOMPLETE 22 50728355 . G A . . ANN=A|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|3/37|c.659C>T|p.Ala220Val|768/6351|659/5517|220/1838||,A|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|3/37|c.659C>T|p.Ala220Val|800/6383|659/5517|220/1838||,A|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding|3/6|c.659C>T|p.Ala220Val|848/1620|659/1431|220/476||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.659C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.659C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.659C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.659C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.659C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.659C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.659C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.659C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.659C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.659C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.659C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.659C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.659C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.659C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.659C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.659C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.659C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.659C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.659C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.659C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|6/37|c.659C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|3/37|c.659C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|4/37|c.659C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|5/37|c.659C>T||||||,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding||c.-1C>T|||||365|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.-1C>T|||||3673|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.-3C>T|||||4083|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000425954|protein_coding||c.*609C>T|||||174|WARNING_TRANSCRIPT_INCOMPLETE 22 50728478 . T C . . ANN=C|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|3/37|c.536A>G|p.Asn179Ser|645/6351|536/5517|179/1838||,C|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|3/37|c.536A>G|p.Asn179Ser|677/6383|536/5517|179/1838||,C|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding|3/6|c.536A>G|p.Asn179Ser|725/1620|536/1431|179/476||WARNING_TRANSCRIPT_NO_STOP_CODON,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.536A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.536A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.536A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.536A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.536A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.536A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.536A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.536A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.536A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.536A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.536A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.536A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.536A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.536A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.536A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.536A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.536A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.536A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.536A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.536A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|6/37|c.536A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|3/37|c.536A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|4/37|c.536A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|5/37|c.536A>G||||||,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding||c.-1A>G|||||488|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.-1A>G|||||3796|,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.-3A>G|||||4206|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000425954|protein_coding||c.*609A>G|||||51|WARNING_TRANSCRIPT_INCOMPLETE 22 50728606 . G A . . ANN=A|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|3/37|c.408C>T|p.Asp136Asp|517/6351|408/5517|136/1838||,A|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|3/37|c.408C>T|p.Asp136Asp|549/6383|408/5517|136/1838||,A|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding|3/6|c.408C>T|p.Asp136Asp|597/1620|408/1431|136/476||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000425954|protein_coding|3/3|c.408C>T|p.Asp136Asp|532/609|408/485|136/160||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.408C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.408C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.408C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.408C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.408C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.408C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.408C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.408C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.408C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.408C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.408C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.408C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.408C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.408C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.408C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.408C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.408C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.408C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.408C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.408C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|6/37|c.408C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|3/37|c.408C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|4/37|c.408C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|5/37|c.408C>T||||||,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding||c.-1C>T|||||616|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.-1C>T|||||3924|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.-3C>T|||||4334|WARNING_TRANSCRIPT_INCOMPLETE 22 50728774 . C T . . ANN=T|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|3/37|c.240G>A|p.Pro80Pro|349/6351|240/5517|80/1838||,T|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|3/37|c.240G>A|p.Pro80Pro|381/6383|240/5517|80/1838||,T|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding|3/6|c.240G>A|p.Pro80Pro|429/1620|240/1431|80/476||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000425954|protein_coding|3/3|c.240G>A|p.Pro80Pro|364/609|240/485|80/160||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.240G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.240G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.240G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.240G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.240G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.240G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.240G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.240G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.240G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.240G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.240G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.240G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.240G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.240G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.240G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.240G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.240G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.240G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.240G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.240G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|6/37|c.240G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|3/37|c.240G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|4/37|c.240G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|5/37|c.240G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|disulfide_bond|ENST00000359337|protein_coding|3/37|c.240G>A||||||,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding||c.-1G>A|||||784|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.-1G>A|||||4092|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.-3G>A|||||4502|WARNING_TRANSCRIPT_INCOMPLETE 22 50728777 . C T . . ANN=T|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|3/37|c.237G>A|p.Thr79Thr|346/6351|237/5517|79/1838||,T|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|3/37|c.237G>A|p.Thr79Thr|378/6383|237/5517|79/1838||,T|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding|3/6|c.237G>A|p.Thr79Thr|426/1620|237/1431|79/476||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000425954|protein_coding|3/3|c.237G>A|p.Thr79Thr|361/609|237/485|79/160||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.237G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.237G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.237G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.237G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.237G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.237G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.237G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.237G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.237G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.237G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.237G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.237G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.237G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.237G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.237G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.237G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.237G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.237G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.237G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.237G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|6/37|c.237G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|3/37|c.237G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|4/37|c.237G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|5/37|c.237G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|disulfide_bond|ENST00000359337|protein_coding|3/37|c.237G>A||||||,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding||c.-1G>A|||||787|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.-1G>A|||||4095|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.-3G>A|||||4505|WARNING_TRANSCRIPT_INCOMPLETE 22 50728966 . T C . . ANN=C|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|3/37|c.48A>G|p.Ala16Ala|157/6351|48/5517|16/1838||,C|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|3/37|c.48A>G|p.Ala16Ala|189/6383|48/5517|16/1838||,C|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding|3/6|c.48A>G|p.Ala16Ala|237/1620|48/1431|16/476||WARNING_TRANSCRIPT_NO_STOP_CODON,C|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000425954|protein_coding|3/3|c.48A>G|p.Ala16Ala|172/609|48/485|16/160||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|signal_peptide|ENST00000359337|protein_coding|3/37|c.48A>G||||||,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding||c.-1A>G|||||976|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.-1A>G|||||4284|,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.-3A>G|||||4694|WARNING_TRANSCRIPT_INCOMPLETE 22 50728969 . G T . . ANN=T|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|3/37|c.45C>A|p.Gly15Gly|154/6351|45/5517|15/1838||,T|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|3/37|c.45C>A|p.Gly15Gly|186/6383|45/5517|15/1838||,T|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding|3/6|c.45C>A|p.Gly15Gly|234/1620|45/1431|15/476||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000425954|protein_coding|3/3|c.45C>A|p.Gly15Gly|169/609|45/485|15/160||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|signal_peptide|ENST00000359337|protein_coding|3/37|c.45C>A||||||,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding||c.-1C>A|||||979|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.-1C>A|||||4287|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.-3C>A|||||4697|WARNING_TRANSCRIPT_INCOMPLETE 22 50729021 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|3/37|c.-8G>A|||||8|,T|5_prime_UTR_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|3/37|c.-8G>A|||||8|,T|5_prime_UTR_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding|3/6|c.-8G>A|||||8|WARNING_TRANSCRIPT_NO_STOP_CODON,T|5_prime_UTR_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000425954|protein_coding|3/3|c.-8G>A|||||8|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding||c.-1G>A|||||1031|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.-1G>A|||||4339|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.-3G>A|||||4749|WARNING_TRANSCRIPT_INCOMPLETE 22 50750529 . C G . . ANN=G|3_prime_UTR_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|20/20|c.*39G>C|||||39|,G|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding||c.-110G>C|||||4512|,G|upstream_gene_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense||n.-1C>G|||||2531|,G|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding||c.-142G>C|||||4473|,G|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000425954|protein_coding||c.-125G>C|||||4497|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron||n.*990G>C|||||2103|,G|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding||c.*920G>C|||||2722|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron||n.*529G>C|||||4554|,G|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|17/17|n.2316G>C|||||| 22 50750573 . G A . . ANN=A|missense_variant|MODERATE|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|20/20|c.1753C>T|p.Pro585Ser|1825/4939|1753/1758|585/585||,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding||c.-110C>T|||||4556|,A|upstream_gene_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense||n.-1G>A|||||2487|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding||c.-142C>T|||||4517|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000425954|protein_coding||c.-125C>T|||||4541|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron||n.*990C>T|||||2059|,A|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding||c.*920C>T|||||2678|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron||n.*529C>T|||||4510|,A|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|17/17|n.2272C>T|||||| 22 50750606 . G A . . ANN=A|synonymous_variant|LOW|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|20/20|c.1720C>T|p.Leu574Leu|1792/4939|1720/1758|574/585||,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding||c.-110C>T|||||4589|,A|upstream_gene_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense||n.-1G>A|||||2454|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding||c.-142C>T|||||4550|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000425954|protein_coding||c.-125C>T|||||4574|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron||n.*990C>T|||||2026|,A|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding||c.*920C>T|||||2645|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron||n.*529C>T|||||4477|,A|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|17/17|n.2239C>T|||||| 22 50750720 . G A . . ANN=A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding||c.-110C>T|||||4703|,A|upstream_gene_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense||n.-1G>A|||||2340|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding||c.-142C>T|||||4664|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000425954|protein_coding||c.-125C>T|||||4688|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron||n.*990C>T|||||1912|,A|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding||c.*920C>T|||||2531|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron||n.*529C>T|||||4363|,A|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|19/19|c.1636-30C>T||||||,A|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|16/16|n.2155-30C>T|||||| 22 50750805 . G A . . ANN=A|synonymous_variant|LOW|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|19/20|c.1602C>T|p.Val534Val|1674/4939|1602/1758|534/585||,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding||c.-110C>T|||||4788|,A|upstream_gene_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense||n.-1G>A|||||2255|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding||c.-142C>T|||||4749|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000425954|protein_coding||c.-125C>T|||||4773|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron||n.*990C>T|||||1827|,A|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding||c.*920C>T|||||2446|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron||n.*529C>T|||||4278|,A|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|16/17|n.2121C>T|||||| 22 50750835 . G A . . ANN=A|synonymous_variant|LOW|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|19/20|c.1572C>T|p.Thr524Thr|1644/4939|1572/1758|524/585||,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding||c.-110C>T|||||4818|,A|upstream_gene_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense||n.-1G>A|||||2225|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding||c.-142C>T|||||4779|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000425954|protein_coding||c.-125C>T|||||4803|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron||n.*990C>T|||||1797|,A|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding||c.*920C>T|||||2416|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron||n.*529C>T|||||4248|,A|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|16/17|n.2091C>T|||||| 22 50750879 . G A . . ANN=A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding||c.-110C>T|||||4862|,A|upstream_gene_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense||n.-1G>A|||||2181|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding||c.-142C>T|||||4823|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000425954|protein_coding||c.-125C>T|||||4847|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron||n.*990C>T|||||1753|,A|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding||c.*920C>T|||||2372|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron||n.*529C>T|||||4204|,A|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|18/19|c.1561-33C>T||||||,A|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|15/16|n.2080-33C>T|||||| 22 50751529 . G C . . ANN=C|synonymous_variant|LOW|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|17/20|c.1356C>G|p.Pro452Pro|1428/4939|1356/1758|452/585||,C|upstream_gene_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense||n.-1G>C|||||1531|,C|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron||n.*990C>G|||||1103|,C|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding||c.*920C>G|||||1722|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron||n.*529C>G|||||3554|,C|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|14/17|n.1875C>G|||||| 22 50751547 . GA G . . ANN=|upstream_gene_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense||n.-1delA|||||1512|,|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron||n.*990delT|||||1084|,|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding||c.*920delT|||||1703|WARNING_TRANSCRIPT_NO_STOP_CODON,|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron||n.*529delT|||||3535|,|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|16/19|c.1348-11delT||||||,|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|13/16|n.1867-11delT|||||| 22 50751563 . C T . . ANN=T|upstream_gene_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense||n.-1C>T|||||1497|,T|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron||n.*990G>A|||||1069|,T|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding||c.*920G>A|||||1688|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron||n.*529G>A|||||3520|,T|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|16/19|c.1348-26G>A||||||,T|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|13/16|n.1867-26G>A|||||| 22 50752024 . C T . . ANN=T|upstream_gene_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense||n.-1C>T|||||1036|,T|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron||n.*990G>A|||||608|,T|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding||c.*920G>A|||||1227|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron||n.*529G>A|||||3059|,T|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|15/19|c.1293+40G>A||||||,T|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|12/16|n.1812+40G>A|||||| 22 50752105 . G A . . ANN=A|missense_variant|MODERATE|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|15/20|c.1252C>T|p.Arg418Trp|1324/4939|1252/1758|418/585||,A|upstream_gene_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense||n.-1G>A|||||955|,A|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron||n.*990C>T|||||527|,A|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding||c.*920C>T|||||1146|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron||n.*529C>T|||||2978|,A|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|12/17|n.1771C>T|||||| 22 50752133 . C T . . ANN=T|synonymous_variant|LOW|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|15/20|c.1224G>A|p.Pro408Pro|1296/4939|1224/1758|408/585||,T|upstream_gene_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense||n.-1C>T|||||927|,T|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron||n.*990G>A|||||499|,T|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding||c.*920G>A|||||1118|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron||n.*529G>A|||||2950|,T|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|12/17|n.1743G>A|||||| 22 50752150 . C T . . ANN=T|missense_variant|MODERATE|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|15/20|c.1207G>A|p.Val403Met|1279/4939|1207/1758|403/585||,T|upstream_gene_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense||n.-1C>T|||||910|,T|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron||n.*990G>A|||||482|,T|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding||c.*920G>A|||||1101|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron||n.*529G>A|||||2933|,T|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|12/17|n.1726G>A|||||| 22 50752169 . G A . . ANN=A|upstream_gene_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense||n.-1G>A|||||891|,A|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron||n.*990C>T|||||463|,A|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding||c.*920C>T|||||1082|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron||n.*529C>T|||||2914|,A|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|14/19|c.1204-16C>T||||||,A|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|11/16|n.1723-16C>T|||||| 22 50752185 . C T . . ANN=T|upstream_gene_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense||n.-1C>T|||||875|,T|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron||n.*990G>A|||||447|,T|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding||c.*920G>A|||||1066|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron||n.*529G>A|||||2898|,T|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|14/19|c.1204-32G>A||||||,T|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|11/16|n.1723-32G>A|||||| 22 50752213 . T C . . ANN=C|upstream_gene_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense||n.-1T>C|||||847|,C|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron||n.*990A>G|||||419|,C|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding||c.*920A>G|||||1038|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron||n.*529A>G|||||2870|,C|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|14/19|c.1203+30A>G||||||,C|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|11/16|n.1722+30A>G|||||| 22 50752258 . G A . . ANN=A|synonymous_variant|LOW|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|14/20|c.1188C>T|p.Leu396Leu|1260/4939|1188/1758|396/585||,A|upstream_gene_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense||n.-1G>A|||||802|,A|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron||n.*990C>T|||||374|,A|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding||c.*920C>T|||||993|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron||n.*529C>T|||||2825|,A|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|11/17|n.1707C>T|||||| 22 50752297 . G A . . ANN=A|synonymous_variant|LOW|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|14/20|c.1149C>T|p.Thr383Thr|1221/4939|1149/1758|383/585||,A|upstream_gene_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense||n.-1G>A|||||763|,A|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron||n.*990C>T|||||335|,A|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding||c.*920C>T|||||954|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron||n.*529C>T|||||2786|,A|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|11/17|n.1668C>T|||||| 22 50752330 . G A . . ANN=A|upstream_gene_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense||n.-1G>A|||||730|,A|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron||n.*990C>T|||||302|,A|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding||c.*920C>T|||||921|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron||n.*529C>T|||||2753|,A|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|13/19|c.1139-23C>T||||||,A|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|11/17|n.1635C>T|||||| 22 50752705 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|12/19|c.1073-4G>A||||||,T|splice_region_variant&intron_variant|LOW|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|10/16|n.1264-4G>A||||||,T|splice_region_variant&intron_variant|LOW|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron|12/12|n.921-4G>A||||||,T|upstream_gene_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense||n.-1C>T|||||355|,T|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding||c.*920G>A|||||546|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron||n.*529G>A|||||2378| 22 50752747 . G C . . ANN=C|upstream_gene_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense||n.-1G>C|||||313|,C|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding||c.*920C>G|||||504|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron||n.*529C>G|||||2336|,C|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|12/19|c.1073-46C>G||||||,C|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|10/16|n.1264-46C>G||||||,C|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron|12/12|n.921-46C>G|||||| 22 50752784 . C T . . ANN=T|upstream_gene_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense||n.-1C>T|||||276|,T|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding||c.*920G>A|||||467|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron||n.*529G>A|||||2299|,T|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|12/19|c.1072+45G>A||||||,T|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|10/16|n.1263+45G>A||||||,T|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron|12/12|n.920+45G>A|||||| 22 50752968 . G A . . ANN=A|upstream_gene_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense||n.-1G>A|||||92|,A|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding||c.*920C>T|||||283|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron||n.*529C>T|||||2115|,A|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|11/19|c.978-45C>T||||||,A|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|9/16|n.1169-45C>T||||||,A|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron|11/12|n.826-45C>T|||||| 22 50753042 . C T . . ANN=T|synonymous_variant|LOW|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|11/20|c.969G>A|p.Thr323Thr|1041/4939|969/1758|323/585||,T|upstream_gene_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense||n.-1C>T|||||18|,T|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding||c.*920G>A|||||209|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron||n.*529G>A|||||2041|,T|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|9/17|n.1160G>A||||||,T|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron|11/13|n.817G>A|||||| 22 50753069 . G A . . ANN=A|synonymous_variant|LOW|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|11/20|c.942C>T|p.Ser314Ser|1014/4939|942/1758|314/585||,A|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding||c.*920C>T|||||182|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron||n.*529C>T|||||2014|,A|non_coding_exon_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense|1/2|n.10G>A||||||,A|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|9/17|n.1133C>T||||||,A|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron|11/13|n.790C>T|||||| 22 50753184 . G A . . ANN=A|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding||c.*920C>T|||||67|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron||n.*529C>T|||||1899|,A|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|10/19|c.881+44C>T||||||,A|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|8/16|n.1072+44C>T||||||,A|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron|10/12|n.729+44C>T||||||,A|non_coding_exon_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense|1/2|n.125G>A|||||| 22 50753206 . C T . . ANN=T|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding||c.*920G>A|||||45|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron||n.*529G>A|||||1877|,T|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|10/19|c.881+22G>A||||||,T|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|8/16|n.1072+22G>A||||||,T|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron|10/12|n.729+22G>A||||||,T|non_coding_exon_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense|1/2|n.147C>T|||||| 22 50753260 . G A . . ANN=A|synonymous_variant|LOW|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|10/20|c.849C>T|p.Asp283Asp|921/4939|849/1758|283/585||,A|synonymous_variant|LOW|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding|10/10|c.885C>T|p.Asp295Asp|911/920|885/894|295/297||WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron||n.*529C>T|||||1823|,A|non_coding_exon_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense|1/2|n.201G>A||||||,A|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|8/17|n.1040C>T||||||,A|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron|10/13|n.697C>T|||||| 22 50753262 . C T . . ANN=T|missense_variant|MODERATE|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|10/20|c.847G>A|p.Asp283Asn|919/4939|847/1758|283/585||,T|missense_variant|MODERATE|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding|10/10|c.883G>A|p.Asp295Asn|909/920|883/894|295/297||WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron||n.*529G>A|||||1821|,T|non_coding_exon_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense|1/2|n.203C>T||||||,T|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|8/17|n.1038G>A||||||,T|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron|10/13|n.695G>A|||||| 22 50753263 . G A . . ANN=A|synonymous_variant|LOW|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|10/20|c.846C>T|p.Pro282Pro|918/4939|846/1758|282/585||,A|synonymous_variant|LOW|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding|10/10|c.882C>T|p.Pro294Pro|908/920|882/894|294/297||WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron||n.*529C>T|||||1820|,A|non_coding_exon_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense|1/2|n.204G>A||||||,A|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|8/17|n.1037C>T||||||,A|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron|10/13|n.694C>T|||||| 22 50753290 . C T . . ANN=T|synonymous_variant|LOW|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|10/20|c.819G>A|p.Glu273Glu|891/4939|819/1758|273/585||,T|synonymous_variant|LOW|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding|10/10|c.855G>A|p.Glu285Glu|881/920|855/894|285/297||WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron||n.*529G>A|||||1793|,T|non_coding_exon_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense|1/2|n.231C>T||||||,T|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|8/17|n.1010G>A||||||,T|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron|10/13|n.667G>A|||||| 22 50753334 . G A . . ANN=A|synonymous_variant|LOW|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|10/20|c.775C>T|p.Leu259Leu|847/4939|775/1758|259/585||,A|synonymous_variant|LOW|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding|10/10|c.811C>T|p.Leu271Leu|837/920|811/894|271/297||WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron||n.*529C>T|||||1749|,A|non_coding_exon_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense|1/2|n.275G>A||||||,A|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|8/17|n.966C>T||||||,A|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron|10/13|n.623C>T|||||| 22 50754170 . G A . . ANN=A|missense_variant|MODERATE|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|9/20|c.731C>T|p.Ala244Val|803/4939|731/1758|244/585||,A|missense_variant|MODERATE|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding|9/10|c.767C>T|p.Ala256Val|793/920|767/894|256/297||WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron||n.*529C>T|||||913|,A|intron_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense|1/1|n.448-184G>A||||||,A|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|7/17|n.922C>T||||||,A|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron|9/13|n.579C>T|||||| 22 50754202 . AGAG A . . ANN=|splice_region_variant&intron_variant|LOW|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|8/19|c.703-7_703-5delCTC||||||,|splice_region_variant&intron_variant|LOW|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|6/16|n.894-7_894-5delCTC||||||,|splice_region_variant&intron_variant|LOW|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron|8/12|n.551-7_551-5delCTC||||||,|splice_region_variant&intron_variant|LOW|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding|8/9|c.739-7_739-5delCTC||||||WARNING_TRANSCRIPT_NO_STOP_CODON,|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron||n.*529_*529delCTC|||||880|,|intron_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense|1/1|n.448-145_448-143delGAG||||||INFO_REALIGN_3_PRIME 22 50754203 . G C . . ANN=C|splice_region_variant&intron_variant|LOW|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|8/19|c.703-5C>G||||||,C|splice_region_variant&intron_variant|LOW|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|6/16|n.894-5C>G||||||,C|splice_region_variant&intron_variant|LOW|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron|8/12|n.551-5C>G||||||,C|splice_region_variant&intron_variant|LOW|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding|8/9|c.739-5C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron||n.*529C>G|||||880|,C|intron_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense|1/1|n.448-151G>C|||||| 22 50754416 . C T . . ANN=T|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron||n.*529G>A|||||667|,T|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|8/19|c.702+38G>A||||||,T|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|6/16|n.893+38G>A||||||,T|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron|8/12|n.550+38G>A||||||,T|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding|8/9|c.738+38G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense|2/2|n.510C>T|||||| 22 50754445 . A T . . ANN=T|downstream_gene_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense||n.*531A>T|||||8|,T|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron||n.*529T>A|||||638|,T|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|8/19|c.702+9T>A||||||,T|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|6/16|n.893+9T>A||||||,T|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron|8/12|n.550+9T>A||||||,T|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding|8/9|c.738+9T>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 50754466 . C T . . ANN=T|synonymous_variant|LOW|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|8/20|c.690G>A|p.Gln230Gln|762/4939|690/1758|230/585||,T|synonymous_variant|LOW|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding|8/10|c.726G>A|p.Gln242Gln|752/920|726/894|242/297||WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense||n.*531C>T|||||29|,T|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron||n.*529G>A|||||617|,T|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|6/17|n.881G>A||||||,T|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron|8/13|n.538G>A|||||| 22 50754512 . C T . . ANN=T|missense_variant|MODERATE|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|8/20|c.644G>A|p.Arg215His|716/4939|644/1758|215/585||,T|missense_variant|MODERATE|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding|8/10|c.680G>A|p.Arg227His|706/920|680/894|227/297||WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense||n.*531C>T|||||75|,T|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron||n.*529G>A|||||571|,T|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|6/17|n.835G>A||||||,T|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron|8/13|n.492G>A|||||| 22 50754519 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|7/19|c.640-3C>T||||||,A|splice_region_variant&intron_variant|LOW|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron|7/12|n.488-3C>T||||||,A|splice_region_variant&intron_variant|LOW|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding|7/9|c.676-3C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense||n.*531G>A|||||82|,A|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron||n.*529C>T|||||564|,A|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|6/17|n.828C>T|||||| 22 50754648 . T C . . ANN=C|synonymous_variant|LOW|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|7/20|c.594A>G|p.Ala198Ala|666/4939|594/1758|198/585||,C|synonymous_variant|LOW|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding|7/10|c.630A>G|p.Ala210Ala|656/920|630/894|210/297||WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense||n.*531T>C|||||211|,C|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron||n.*529A>G|||||435|,C|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|6/17|n.699A>G||||||,C|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron|7/13|n.442A>G|||||| 22 50754649 . G A . . ANN=A|missense_variant|MODERATE|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|7/20|c.593C>T|p.Ala198Val|665/4939|593/1758|198/585||,A|missense_variant|MODERATE|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding|7/10|c.629C>T|p.Ala210Val|655/920|629/894|210/297||WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense||n.*531G>A|||||212|,A|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron||n.*529C>T|||||434|,A|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|6/17|n.698C>T||||||,A|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron|7/13|n.441C>T|||||| 22 50754705 . C T . . ANN=T|downstream_gene_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense||n.*531C>T|||||268|,T|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron||n.*529G>A|||||378|,T|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|6/19|c.560-23G>A||||||,T|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron|6/12|n.408-23G>A||||||,T|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding|6/9|c.596-23G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|6/17|n.642G>A|||||| 22 50754772 . C T . . ANN=T|downstream_gene_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense||n.*531C>T|||||335|,T|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron||n.*529G>A|||||311|,T|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|6/19|c.559+27G>A||||||,T|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron|6/12|n.407+27G>A||||||,T|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding|6/9|c.595+27G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|6/17|n.575G>A|||||| 22 50754836 . G A . . ANN=A|synonymous_variant|LOW|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|6/20|c.522C>T|p.Pro174Pro|594/4939|522/1758|174/585||,A|synonymous_variant|LOW|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding|6/10|c.558C>T|p.Pro186Pro|584/920|558/894|186/297||WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense||n.*531G>A|||||399|,A|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron||n.*529C>T|||||247|,A|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|6/17|n.511C>T||||||,A|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron|6/13|n.370C>T|||||| 22 50754874 . C G . . ANN=G|missense_variant|MODERATE|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|6/20|c.484G>C|p.Val162Leu|556/4939|484/1758|162/585||,G|missense_variant|MODERATE|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding|6/10|c.520G>C|p.Val174Leu|546/920|520/894|174/297||WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense||n.*531C>G|||||437|,G|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron||n.*529G>C|||||209|,G|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|6/17|n.473G>C||||||,G|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron|6/13|n.332G>C|||||| 22 50755782 . G A . . ANN=A|synonymous_variant|LOW|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|5/20|c.393C>T|p.Phe131Phe|465/4939|393/1758|131/585||,A|synonymous_variant|LOW|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding|4/10|c.282C>T|p.Phe94Phe|308/920|282/894|94/297||WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense||n.*531G>A|||||1345|,A|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|5/17|n.382C>T||||||,A|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron|4/13|n.180C>T||||||,A|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron|3/4|n.258C>T|||||| 22 50755840 . C T . . ANN=T|downstream_gene_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense||n.*531C>T|||||1403|,T|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|4/19|c.373-38G>A||||||,T|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|4/16|n.362-38G>A||||||,T|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron|3/12|n.160-38G>A||||||,T|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding|3/9|c.262-38G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron|2/3|n.238-38G>A|||||| 22 50756320 . C T . . ANN=T|downstream_gene_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense||n.*531C>T|||||1883|,T|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|4/19|c.372+17G>A||||||,T|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|4/16|n.361+17G>A||||||,T|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron|3/12|n.159+17G>A||||||,T|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding|3/9|c.261+17G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron|2/3|n.237+17G>A|||||| 22 50756388 . G A . . ANN=A|synonymous_variant|LOW|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|4/20|c.321C>T|p.Pro107Pro|393/4939|321/1758|107/585||,A|synonymous_variant|LOW|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding|3/10|c.210C>T|p.Pro70Pro|236/920|210/894|70/297||WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense||n.*531G>A|||||1951|,A|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|4/17|n.310C>T||||||,A|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron|3/13|n.108C>T||||||,A|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron|2/4|n.186C>T|||||| 22 50756413 . C A . . ANN=A|missense_variant|MODERATE|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|4/20|c.296G>T|p.Arg99Leu|368/4939|296/1758|99/585||,A|missense_variant|MODERATE|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding|3/10|c.185G>T|p.Arg62Leu|211/920|185/894|62/297||WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense||n.*531C>A|||||1976|,A|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|4/17|n.285G>T||||||,A|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron|3/13|n.83G>T||||||,A|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron|2/4|n.161G>T|||||| 22 50756452 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|3/19|c.260-3T>C||||||,G|splice_region_variant&intron_variant|LOW|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|3/16|n.249-3T>C||||||,G|splice_region_variant&intron_variant|LOW|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron|2/12|n.47-3T>C||||||,G|splice_region_variant&intron_variant|LOW|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding|2/9|c.149-3T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|splice_region_variant&intron_variant|LOW|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron|1/3|n.125-3T>C||||||,G|downstream_gene_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense||n.*531A>G|||||2015| 22 50756486 . G A . . ANN=A|downstream_gene_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense||n.*531G>A|||||2049|,A|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|3/19|c.260-37C>T||||||,A|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|3/16|n.249-37C>T||||||,A|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron|2/12|n.47-37C>T||||||,A|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding|2/9|c.149-37C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron|1/3|n.125-37C>T|||||| 22 50757242 . C T . . ANN=T|downstream_gene_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense||n.*531C>T|||||2805|,T|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|3/19|c.259+34G>A||||||,T|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|3/16|n.248+34G>A||||||,T|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron|2/12|n.46+34G>A||||||,T|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding|2/9|c.148+34G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron|1/3|n.124+34G>A|||||| 22 50757245 . G C . . ANN=C|downstream_gene_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense||n.*531G>C|||||2808|,C|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|3/19|c.259+31C>G||||||,C|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|3/16|n.248+31C>G||||||,C|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron|2/12|n.46+31C>G||||||,C|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding|2/9|c.148+31C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron|1/3|n.124+31C>G|||||| 22 50757337 . C T . . ANN=T|downstream_gene_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense||n.*531C>T|||||2900|,T|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|2/19|c.217-19G>A||||||,T|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|2/16|n.206-19G>A||||||,T|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron|1/12|n.4-19G>A||||||,T|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding|1/9|c.106-19G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron|1/4|n.63G>A|||||| 22 50757348 . G A . . ANN=A|downstream_gene_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense||n.*531G>A|||||2911|,A|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|2/19|c.217-30C>T||||||,A|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|2/16|n.206-30C>T||||||,A|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron|1/12|n.4-30C>T||||||,A|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding|1/9|c.106-30C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron|1/4|n.52C>T|||||| 22 50757365 . T C . . ANN=C|downstream_gene_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense||n.*531T>C|||||2928|,C|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|2/19|c.216+29A>G||||||,C|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|2/16|n.205+29A>G||||||,C|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron|1/12|n.3+29A>G||||||,C|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding|1/9|c.105+29A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron|1/4|n.35A>G|||||| 22 50757470 . T C . . ANN=C|missense_variant|MODERATE|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding|1/10|c.29A>G|p.Asp10Gly|55/920|29/894|10/297||WARNING_TRANSCRIPT_NO_STOP_CODON,C|upstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron||n.-1A>G|||||74|,C|upstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron||n.-1A>G|||||71|,C|downstream_gene_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense||n.*531T>C|||||3033|,C|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|1/19|c.178-38A>G||||||,C|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|1/16|n.167-38A>G|||||| 22 50832305 . T A . . ANN=A|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000238604|transcript|ENST00000459259|misc_RNA||n.-1T>A|||||4944|,A|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|3/24|c.-16-17T>A||||||,A|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|2/22|c.-16-17T>A||||||,A|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|2/22|c.-16-17T>A||||||,A|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|2/22|c.-16-17T>A|||||| 22 50832326 . GC G . . ANN=|5_prime_UTR_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|4/25|c.-11delC|||||11|,|5_prime_UTR_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|3/23|c.-11delC|||||11|,|5_prime_UTR_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|3/23|c.-11delC|||||11|,|5_prime_UTR_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|3/23|c.-11delC|||||11|,|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000238604|transcript|ENST00000459259|misc_RNA||n.-1delC|||||4922| 22 50832366 . C T . . ANN=T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|4/25|c.29C>T|p.Thr10Met|399/3415|29/2901|10/966||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|3/23|c.29C>T|p.Thr10Met|423/4030|29/2784|10/927||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|3/23|c.29C>T|p.Thr10Met|404/3304|29/2802|10/933||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|3/23|c.29C>T|p.Thr10Met|396/3293|29/2799|10/932||,T|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000238604|transcript|ENST00000459259|misc_RNA||n.-1C>T|||||4883| 22 50832373 . T C . . ANN=C|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|4/25|c.36T>C|p.His12His|406/3415|36/2901|12/966||,C|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|3/23|c.36T>C|p.His12His|430/4030|36/2784|12/927||,C|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|3/23|c.36T>C|p.His12His|411/3304|36/2802|12/933||,C|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|3/23|c.36T>C|p.His12His|403/3293|36/2799|12/932||,C|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000238604|transcript|ENST00000459259|misc_RNA||n.-1T>C|||||4876| 22 50832506 . C T . . ANN=T|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|4/25|c.169C>T|p.Leu57Leu|539/3415|169/2901|57/966||,T|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|3/23|c.169C>T|p.Leu57Leu|563/4030|169/2784|57/927||,T|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|3/23|c.169C>T|p.Leu57Leu|544/3304|169/2802|57/933||,T|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|3/23|c.169C>T|p.Leu57Leu|536/3293|169/2799|57/932||,T|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000238604|transcript|ENST00000459259|misc_RNA||n.-1C>T|||||4743| 22 50845178 . C T . . ANN=T|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|5/25|c.288C>T|p.Leu96Leu|658/3415|288/2901|96/966||,T|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|4/23|c.288C>T|p.Leu96Leu|682/4030|288/2784|96/927||,T|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|4/23|c.288C>T|p.Leu96Leu|663/3304|288/2802|96/933||,T|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|4/23|c.288C>T|p.Leu96Leu|655/3293|288/2799|96/932|| 22 50845314 . G A . . ANN=A|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|5/24|c.414+10G>A||||||,A|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|4/22|c.414+10G>A||||||,A|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|4/22|c.414+10G>A||||||,A|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|4/22|c.414+10G>A|||||| 22 50852952 . G A . . ANN=A|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding||c.-2G>A|||||4919|,A|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|5/24|c.415-29G>A||||||,A|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|4/22|c.415-29G>A||||||,A|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|4/22|c.415-29G>A||||||,A|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|4/22|c.415-29G>A|||||| 22 50853008 . A G . . ANN=G|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|6/25|c.442A>G|p.Lys148Glu|812/3415|442/2901|148/966||,G|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|5/23|c.442A>G|p.Lys148Glu|836/4030|442/2784|148/927||,G|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|5/23|c.442A>G|p.Lys148Glu|817/3304|442/2802|148/933||,G|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|5/23|c.442A>G|p.Lys148Glu|809/3293|442/2799|148/932||,G|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding||c.-2A>G|||||4863| 22 50853021 . T A . . ANN=A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|6/25|c.455T>A|p.Leu152Gln|825/3415|455/2901|152/966||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|5/23|c.455T>A|p.Leu152Gln|849/4030|455/2784|152/927||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|5/23|c.455T>A|p.Leu152Gln|830/3304|455/2802|152/933||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|5/23|c.455T>A|p.Leu152Gln|822/3293|455/2799|152/932||,A|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding||c.-2T>A|||||4850| 22 50853095 . G A . . ANN=A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|6/25|c.529G>A|p.Gly177Arg|899/3415|529/2901|177/966||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|5/23|c.529G>A|p.Gly177Arg|923/4030|529/2784|177/927||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|5/23|c.529G>A|p.Gly177Arg|904/3304|529/2802|177/933||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|5/23|c.529G>A|p.Gly177Arg|896/3293|529/2799|177/932||,A|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding||c.-2G>A|||||4776| 22 50853132 . TC T . . ANN=|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding||c.-2delC|||||4738|,|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|6/24|c.552+22delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|5/22|c.552+22delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|5/22|c.552+22delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|5/22|c.552+22delC||||||INFO_REALIGN_3_PRIME 22 50853140 . C T . . ANN=T|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding||c.-2C>T|||||4731|,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|6/24|c.552+22C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|5/22|c.552+22C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|5/22|c.552+22C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|5/22|c.552+22C>T|||||| 22 50854501 . G T . . ANN=T|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding||c.-2G>T|||||3370|,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|6/24|c.553-20G>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|5/22|c.553-20G>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|5/22|c.553-20G>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|5/22|c.553-20G>T|||||| 22 50854604 . C T . . ANN=T|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding||c.-2C>T|||||3267|,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|7/24|c.618+18C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|6/22|c.618+18C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|6/22|c.618+18C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|6/22|c.618+18C>T|||||| 22 50857273 . CTG C . . ANN=|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding||c.-2_-2delTG|||||597|,|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding||c.-2_-2delTG|||||4760|WARNING_TRANSCRIPT_NO_START_CODON,|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|7/24|c.619-19_619-18delGT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|6/22|c.619-19_619-18delGT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|6/22|c.619-19_619-18delGT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|6/22|c.619-19_619-18delGT||||||INFO_REALIGN_3_PRIME 22 50857832 . G T . . ANN=T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|9/25|c.786G>T|p.Glu262Asp|1156/3415|786/2901|262/966||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|8/23|c.786G>T|p.Glu262Asp|1180/4030|786/2784|262/927||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|8/23|c.789G>T|p.Glu263Asp|1164/3304|789/2802|263/933||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|8/23|c.786G>T|p.Glu262Asp|1153/3293|786/2799|262/932||,T|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding||c.-2G>T|||||39|,T|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding||c.-2G>T|||||4202|WARNING_TRANSCRIPT_NO_START_CODON 22 50857916 . G A . . ANN=A|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding||c.-2G>A|||||4118|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|9/24|c.845+25G>A||||||,A|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|8/22|c.845+25G>A||||||,A|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|8/22|c.848+25G>A||||||,A|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|8/22|c.845+25G>A||||||,A|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|1/16|c.20+25G>A|||||| 22 50857917 . T C . . ANN=C|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding||c.-2T>C|||||4117|WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|9/24|c.845+26T>C||||||,C|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|8/22|c.845+26T>C||||||,C|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|8/22|c.848+26T>C||||||,C|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|8/22|c.845+26T>C||||||,C|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|1/16|c.20+26T>C|||||| 22 50860674 . C T . . ANN=T|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding||c.-2C>T|||||1360|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|9/24|c.846-9C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|8/22|c.846-9C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|8/22|c.849-9C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|8/22|c.846-9C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|1/16|c.21-9C>T|||||| 22 50860818 . C T . . ANN=T|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding||c.-2C>T|||||1216|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|10/24|c.972+9C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|9/22|c.972+9C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|9/22|c.975+9C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|9/22|c.972+9C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|2/16|c.147+9C>T|||||| 22 50869667 . T C . . ANN=C|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|12/25|c.1191T>C|p.Ala397Ala|1561/3415|1191/2901|397/966||,C|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|11/23|c.1191T>C|p.Ala397Ala|1585/4030|1191/2784|397/927||,C|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|11/23|c.1194T>C|p.Ala398Ala|1569/3304|1194/2802|398/933||,C|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|11/23|c.1191T>C|p.Ala397Ala|1558/3293|1191/2799|397/932||,C|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|4/17|c.366T>C|p.Ala122Ala|367/2199|366/2055|122/684||,C|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|2/14|c.75T>C|p.Ala25Ala|76/1811|75/1686|25/561||WARNING_TRANSCRIPT_NO_START_CODON 22 50869692 . G C . . ANN=C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|12/25|c.1216G>C|p.Glu406Gln|1586/3415|1216/2901|406/966||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|11/23|c.1216G>C|p.Glu406Gln|1610/4030|1216/2784|406/927||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|11/23|c.1219G>C|p.Glu407Gln|1594/3304|1219/2802|407/933||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|11/23|c.1216G>C|p.Glu406Gln|1583/3293|1216/2799|406/932||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|4/17|c.391G>C|p.Glu131Gln|392/2199|391/2055|131/684||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|2/14|c.100G>C|p.Glu34Gln|101/1811|100/1686|34/561||WARNING_TRANSCRIPT_NO_START_CODON 22 50869709 . C T . . ANN=T|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|12/25|c.1233C>T|p.Ser411Ser|1603/3415|1233/2901|411/966||,T|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|11/23|c.1233C>T|p.Ser411Ser|1627/4030|1233/2784|411/927||,T|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|11/23|c.1236C>T|p.Ser412Ser|1611/3304|1236/2802|412/933||,T|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|11/23|c.1233C>T|p.Ser411Ser|1600/3293|1233/2799|411/932||,T|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|4/17|c.408C>T|p.Ser136Ser|409/2199|408/2055|136/684||,T|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|2/14|c.117C>T|p.Ser39Ser|118/1811|117/1686|39/561||WARNING_TRANSCRIPT_NO_START_CODON 22 50869757 . C T . . ANN=T|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|12/25|c.1281C>T|p.Ser427Ser|1651/3415|1281/2901|427/966||,T|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|11/23|c.1281C>T|p.Ser427Ser|1675/4030|1281/2784|427/927||,T|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|11/23|c.1284C>T|p.Ser428Ser|1659/3304|1284/2802|428/933||,T|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|11/23|c.1281C>T|p.Ser427Ser|1648/3293|1281/2799|427/932||,T|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|4/17|c.456C>T|p.Ser152Ser|457/2199|456/2055|152/684||,T|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|2/14|c.165C>T|p.Ser55Ser|166/1811|165/1686|55/561||WARNING_TRANSCRIPT_NO_START_CODON 22 50869761 . G A . . ANN=A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|12/25|c.1285G>A|p.Glu429Lys|1655/3415|1285/2901|429/966||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|11/23|c.1285G>A|p.Glu429Lys|1679/4030|1285/2784|429/927||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|11/23|c.1288G>A|p.Glu430Lys|1663/3304|1288/2802|430/933||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|11/23|c.1285G>A|p.Glu429Lys|1652/3293|1285/2799|429/932||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|4/17|c.460G>A|p.Glu154Lys|461/2199|460/2055|154/684||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|2/14|c.169G>A|p.Glu57Lys|170/1811|169/1686|57/561||WARNING_TRANSCRIPT_NO_START_CODON 22 50869776 . G T . . ANN=T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|12/25|c.1300G>T|p.Ala434Ser|1670/3415|1300/2901|434/966||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|11/23|c.1300G>T|p.Ala434Ser|1694/4030|1300/2784|434/927||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|11/23|c.1303G>T|p.Ala435Ser|1678/3304|1303/2802|435/933||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|11/23|c.1300G>T|p.Ala434Ser|1667/3293|1300/2799|434/932||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|4/17|c.475G>T|p.Ala159Ser|476/2199|475/2055|159/684||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|2/14|c.184G>T|p.Ala62Ser|185/1811|184/1686|62/561||WARNING_TRANSCRIPT_NO_START_CODON 22 50869795 . A C . . ANN=C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|12/25|c.1319A>C|p.Asn440Thr|1689/3415|1319/2901|440/966||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|11/23|c.1319A>C|p.Asn440Thr|1713/4030|1319/2784|440/927||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|11/23|c.1322A>C|p.Asn441Thr|1697/3304|1322/2802|441/933||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|11/23|c.1319A>C|p.Asn440Thr|1686/3293|1319/2799|440/932||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|4/17|c.494A>C|p.Asn165Thr|495/2199|494/2055|165/684||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|2/14|c.203A>C|p.Asn68Thr|204/1811|203/1686|68/561||WARNING_TRANSCRIPT_NO_START_CODON 22 50873355 . G T . . ANN=T|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.-1G>T|||||4827|,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|13/24|c.1401-40G>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|12/22|c.1401-40G>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|12/22|c.1404-40G>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|12/22|c.1401-40G>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|5/16|c.576-40G>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|3/13|c.285-40G>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 50873356 . G T . . ANN=T|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.-1G>T|||||4826|,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|13/24|c.1401-39G>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|12/22|c.1401-39G>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|12/22|c.1404-39G>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|12/22|c.1401-39G>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|5/16|c.576-39G>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|3/13|c.285-39G>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 50873415 . G A . . ANN=A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|14/25|c.1421G>A|p.Arg474His|1791/3415|1421/2901|474/966||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|13/23|c.1421G>A|p.Arg474His|1815/4030|1421/2784|474/927||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|13/23|c.1424G>A|p.Arg475His|1799/3304|1424/2802|475/933||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|13/23|c.1421G>A|p.Arg474His|1788/3293|1421/2799|474/932||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|6/17|c.596G>A|p.Arg199His|597/2199|596/2055|199/684||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|4/14|c.305G>A|p.Arg102His|306/1811|305/1686|102/561||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.-1G>A|||||4767| 22 50873450 . G T . . ANN=T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|14/25|c.1456G>T|p.Ala486Ser|1826/3415|1456/2901|486/966||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|13/23|c.1456G>T|p.Ala486Ser|1850/4030|1456/2784|486/927||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|13/23|c.1459G>T|p.Ala487Ser|1834/3304|1459/2802|487/933||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|13/23|c.1456G>T|p.Ala486Ser|1823/3293|1456/2799|486/932||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|6/17|c.631G>T|p.Ala211Ser|632/2199|631/2055|211/684||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|4/14|c.340G>T|p.Ala114Ser|341/1811|340/1686|114/561||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.-1G>T|||||4732| 22 50873451 . C T . . ANN=T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|14/25|c.1457C>T|p.Ala486Val|1827/3415|1457/2901|486/966||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|13/23|c.1457C>T|p.Ala486Val|1851/4030|1457/2784|486/927||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|13/23|c.1460C>T|p.Ala487Val|1835/3304|1460/2802|487/933||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|13/23|c.1457C>T|p.Ala486Val|1824/3293|1457/2799|486/932||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|6/17|c.632C>T|p.Ala211Val|633/2199|632/2055|211/684||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|4/14|c.341C>T|p.Ala114Val|342/1811|341/1686|114/561||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.-1C>T|||||4731| 22 50873497 . C T . . ANN=T|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|14/25|c.1503C>T|p.Ser501Ser|1873/3415|1503/2901|501/966||,T|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|13/23|c.1503C>T|p.Ser501Ser|1897/4030|1503/2784|501/927||,T|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|13/23|c.1506C>T|p.Ser502Ser|1881/3304|1506/2802|502/933||,T|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|13/23|c.1503C>T|p.Ser501Ser|1870/3293|1503/2799|501/932||,T|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|6/17|c.678C>T|p.Ser226Ser|679/2199|678/2055|226/684||,T|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|4/14|c.387C>T|p.Ser129Ser|388/1811|387/1686|129/561||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.-1C>T|||||4685| 22 50873542 . G A . . ANN=A|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.-1G>A|||||4640|,A|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|14/24|c.1516+32G>A||||||,A|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|13/22|c.1516+32G>A||||||,A|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|13/22|c.1519+32G>A||||||,A|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|13/22|c.1516+32G>A||||||,A|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|6/16|c.691+32G>A||||||,A|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|4/13|c.400+32G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 50873546 . C T . . ANN=T|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.-1C>T|||||4636|,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|14/24|c.1516+36C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|13/22|c.1516+36C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|13/22|c.1519+36C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|13/22|c.1516+36C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|6/16|c.691+36C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|4/13|c.400+36C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 50873557 . A G . . ANN=G|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.-1A>G|||||4625|,G|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|14/24|c.1516+47A>G||||||,G|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|13/22|c.1516+47A>G||||||,G|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|13/22|c.1519+47A>G||||||,G|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|13/22|c.1516+47A>G||||||,G|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|6/16|c.691+47A>G||||||,G|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|4/13|c.400+47A>G||||||WARNING_TRANSCRIPT_NO_START_CODON 22 50874850 . C T . . ANN=T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|15/25|c.1571C>T|p.Thr524Met|1941/3415|1571/2901|524/966||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|14/23|c.1571C>T|p.Thr524Met|1965/4030|1571/2784|524/927||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|14/23|c.1574C>T|p.Thr525Met|1949/3304|1574/2802|525/933||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|14/23|c.1571C>T|p.Thr524Met|1938/3293|1571/2799|524/932||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|7/17|c.746C>T|p.Thr249Met|747/2199|746/2055|249/684||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|5/14|c.455C>T|p.Thr152Met|456/1811|455/1686|152/561||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.-1C>T|||||3332| 22 50874851 . G A . . ANN=A|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|15/25|c.1572G>A|p.Thr524Thr|1942/3415|1572/2901|524/966||,A|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|14/23|c.1572G>A|p.Thr524Thr|1966/4030|1572/2784|524/927||,A|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|14/23|c.1575G>A|p.Thr525Thr|1950/3304|1575/2802|525/933||,A|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|14/23|c.1572G>A|p.Thr524Thr|1939/3293|1572/2799|524/932||,A|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|7/17|c.747G>A|p.Thr249Thr|748/2199|747/2055|249/684||,A|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|5/14|c.456G>A|p.Thr152Thr|457/1811|456/1686|152/561||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.-1G>A|||||3331| 22 50874873 . G A . . ANN=A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|15/25|c.1594G>A|p.Val532Met|1964/3415|1594/2901|532/966||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|14/23|c.1594G>A|p.Val532Met|1988/4030|1594/2784|532/927||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|14/23|c.1597G>A|p.Val533Met|1972/3304|1597/2802|533/933||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|14/23|c.1594G>A|p.Val532Met|1961/3293|1594/2799|532/932||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|7/17|c.769G>A|p.Val257Met|770/2199|769/2055|257/684||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|5/14|c.478G>A|p.Val160Met|479/1811|478/1686|160/561||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.-1G>A|||||3309| 22 50874893 . C T . . ANN=T|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.-1C>T|||||3289|,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|15/24|c.1602+12C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|14/22|c.1602+12C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|14/22|c.1605+12C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|14/22|c.1602+12C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|7/16|c.777+12C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|5/13|c.486+12C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 50874899 . T C . . ANN=C|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.-1T>C|||||3283|,C|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|15/24|c.1602+18T>C||||||,C|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|14/22|c.1602+18T>C||||||,C|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|14/22|c.1605+18T>C||||||,C|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|14/22|c.1602+18T>C||||||,C|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|7/16|c.777+18T>C||||||,C|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|5/13|c.486+18T>C||||||WARNING_TRANSCRIPT_NO_START_CODON 22 50874918 . C T . . ANN=T|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.-1C>T|||||3264|,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|15/24|c.1602+37C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|14/22|c.1602+37C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|14/22|c.1605+37C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|14/22|c.1602+37C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|7/16|c.777+37C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|5/13|c.486+37C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 50874929 . C T . . ANN=T|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.-1C>T|||||3253|,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|15/24|c.1602+48C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|14/22|c.1602+48C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|14/22|c.1605+48C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|14/22|c.1602+48C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|7/16|c.777+48C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|5/13|c.486+48C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 50874930 . G A . . ANN=A|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.-1G>A|||||3252|,A|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|15/24|c.1602+49G>A||||||,A|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|14/22|c.1602+49G>A||||||,A|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|14/22|c.1605+49G>A||||||,A|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|14/22|c.1602+49G>A||||||,A|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|7/16|c.777+49G>A||||||,A|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|5/13|c.486+49G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 50875908 . GTCCC G . . ANN=|splice_region_variant&intron_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|16/24|c.1684-6_1684-3delTCCC||||||INFO_REALIGN_3_PRIME,|splice_region_variant&intron_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|14/22|c.1603-6_1603-3delTCCC||||||INFO_REALIGN_3_PRIME,|splice_region_variant&intron_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|14/22|c.1606-6_1606-3delTCCC||||||INFO_REALIGN_3_PRIME,|splice_region_variant&intron_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|14/22|c.1603-6_1603-3delTCCC||||||INFO_REALIGN_3_PRIME,|splice_region_variant&intron_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|8/16|c.859-6_859-3delTCCC||||||INFO_REALIGN_3_PRIME,|splice_region_variant&intron_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|5/13|c.487-6_487-3delTCCC||||||WARNING_TRANSCRIPT_NO_START_CODON&INFO_REALIGN_3_PRIME,|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.-1_-1delTCCC|||||2273| 22 50876021 . C T . . ANN=T|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|17/25|c.1770C>T|p.Asp590Asp|2140/3415|1770/2901|590/966||,T|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|15/23|c.1689C>T|p.Asp563Asp|2083/4030|1689/2784|563/927||,T|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|15/23|c.1692C>T|p.Asp564Asp|2067/3304|1692/2802|564/933||,T|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|15/23|c.1689C>T|p.Asp563Asp|2056/3293|1689/2799|563/932||,T|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|9/17|c.945C>T|p.Asp315Asp|946/2199|945/2055|315/684||,T|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|6/14|c.573C>T|p.Asp191Asp|574/1811|573/1686|191/561||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.-1C>T|||||2161| 22 50876050 . G A . . ANN=A|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.-1G>A|||||2132|,A|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|17/24|c.1781+18G>A||||||,A|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|15/22|c.1700+18G>A||||||,A|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|15/22|c.1703+18G>A||||||,A|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|15/22|c.1700+18G>A||||||,A|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|9/16|c.956+18G>A||||||,A|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|6/13|c.584+18G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 50876065 . C T . . ANN=T|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.-1C>T|||||2117|,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|17/24|c.1781+33C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|15/22|c.1700+33C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|15/22|c.1703+33C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|15/22|c.1700+33C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|9/16|c.956+33C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|6/13|c.584+33C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 50876077 . T C . . ANN=C|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.-1T>C|||||2105|,C|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|17/24|c.1781+45T>C||||||,C|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|15/22|c.1700+45T>C||||||,C|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|15/22|c.1703+45T>C||||||,C|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|15/22|c.1700+45T>C||||||,C|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|9/16|c.956+45T>C||||||,C|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|6/13|c.584+45T>C||||||WARNING_TRANSCRIPT_NO_START_CODON 22 50876081 . G C . . ANN=C|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.-1G>C|||||2101|,C|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|17/24|c.1781+49G>C||||||,C|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|15/22|c.1700+49G>C||||||,C|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|15/22|c.1703+49G>C||||||,C|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|15/22|c.1700+49G>C||||||,C|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|9/16|c.956+49G>C||||||,C|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|6/13|c.584+49G>C||||||WARNING_TRANSCRIPT_NO_START_CODON 22 50876235 . T C . . ANN=C|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.-1T>C|||||1947|,C|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|17/24|c.1782-37T>C||||||,C|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|15/22|c.1701-37T>C||||||,C|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|15/22|c.1704-37T>C||||||,C|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|15/22|c.1701-37T>C||||||,C|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|9/16|c.957-37T>C||||||,C|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|6/13|c.585-37T>C||||||WARNING_TRANSCRIPT_NO_START_CODON 22 50876243 . C T . . ANN=T|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.-1C>T|||||1939|,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|17/24|c.1782-29C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|15/22|c.1701-29C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|15/22|c.1704-29C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|15/22|c.1701-29C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|9/16|c.957-29C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|6/13|c.585-29C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 50876357 . C G . . ANN=G|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.-1C>G|||||1825|,G|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|18/24|c.1839+28C>G||||||,G|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|16/22|c.1758+28C>G||||||,G|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|16/22|c.1761+28C>G||||||,G|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|16/22|c.1758+28C>G||||||,G|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|10/16|c.1014+28C>G||||||,G|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|7/13|c.642+28C>G||||||WARNING_TRANSCRIPT_NO_START_CODON 22 50876640 . G A . . ANN=A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|19/25|c.1877G>A|p.Arg626His|2247/3415|1877/2901|626/966||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|17/23|c.1796G>A|p.Arg599His|2190/4030|1796/2784|599/927||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|17/23|c.1799G>A|p.Arg600His|2174/3304|1799/2802|600/933||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|17/23|c.1796G>A|p.Arg599His|2163/3293|1796/2799|599/932||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|11/17|c.1052G>A|p.Arg351His|1053/2199|1052/2055|351/684||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|8/14|c.680G>A|p.Arg227His|681/1811|680/1686|227/561||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.-1G>A|||||1542|,A|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron||n.-1G>A|||||4876| 22 50876662 . T G . . ANN=G|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|19/25|c.1899T>G|p.Asp633Glu|2269/3415|1899/2901|633/966||,G|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|17/23|c.1818T>G|p.Asp606Glu|2212/4030|1818/2784|606/927||,G|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|17/23|c.1821T>G|p.Asp607Glu|2196/3304|1821/2802|607/933||,G|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|17/23|c.1818T>G|p.Asp606Glu|2185/3293|1818/2799|606/932||,G|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|11/17|c.1074T>G|p.Asp358Glu|1075/2199|1074/2055|358/684||,G|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|8/14|c.702T>G|p.Asp234Glu|703/1811|702/1686|234/561||WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.-1T>G|||||1520|,G|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron||n.-1T>G|||||4854| 22 50876708 . C T . . ANN=T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|19/25|c.1945C>T|p.Arg649Trp|2315/3415|1945/2901|649/966||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|17/23|c.1864C>T|p.Arg622Trp|2258/4030|1864/2784|622/927||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|17/23|c.1867C>T|p.Arg623Trp|2242/3304|1867/2802|623/933||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|17/23|c.1864C>T|p.Arg622Trp|2231/3293|1864/2799|622/932||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|11/17|c.1120C>T|p.Arg374Trp|1121/2199|1120/2055|374/684||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|8/14|c.748C>T|p.Arg250Trp|749/1811|748/1686|250/561||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.-1C>T|||||1474|,T|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron||n.-1C>T|||||4808| 22 50876731 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|19/24|c.1964+4C>T||||||,T|splice_region_variant&intron_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|17/22|c.1883+4C>T||||||,T|splice_region_variant&intron_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|17/22|c.1886+4C>T||||||,T|splice_region_variant&intron_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|17/22|c.1883+4C>T||||||,T|splice_region_variant&intron_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|11/16|c.1139+4C>T||||||,T|splice_region_variant&intron_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|8/13|c.767+4C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.-1C>T|||||1451|,T|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron||n.-1C>T|||||4785| 22 50876755 . C T . . ANN=T|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.-1C>T|||||1427|,T|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron||n.-1C>T|||||4761|,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|19/24|c.1964+28C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|17/22|c.1883+28C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|17/22|c.1886+28C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|17/22|c.1883+28C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|11/16|c.1139+28C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|8/13|c.767+28C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 50876761 . C A . . ANN=A|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.-1C>A|||||1421|,A|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron||n.-1C>A|||||4755|,A|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|19/24|c.1964+34C>A||||||,A|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|17/22|c.1883+34C>A||||||,A|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|17/22|c.1886+34C>A||||||,A|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|17/22|c.1883+34C>A||||||,A|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|11/16|c.1139+34C>A||||||,A|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|8/13|c.767+34C>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 50876767 . A G . . ANN=G|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.-1A>G|||||1415|,G|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron||n.-1A>G|||||4749|,G|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|19/24|c.1964+40A>G||||||,G|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|17/22|c.1883+40A>G||||||,G|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|17/22|c.1886+40A>G||||||,G|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|17/22|c.1883+40A>G||||||,G|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|11/16|c.1139+40A>G||||||,G|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|8/13|c.767+40A>G||||||WARNING_TRANSCRIPT_NO_START_CODON 22 50876770 . T C . . ANN=C|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.-1T>C|||||1412|,C|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron||n.-1T>C|||||4746|,C|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|19/24|c.1964+43T>C||||||,C|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|17/22|c.1883+43T>C||||||,C|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|17/22|c.1886+43T>C||||||,C|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|17/22|c.1883+43T>C||||||,C|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|11/16|c.1139+43T>C||||||,C|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|8/13|c.767+43T>C||||||WARNING_TRANSCRIPT_NO_START_CODON 22 50876775 . C T . . ANN=T|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.-1C>T|||||1407|,T|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron||n.-1C>T|||||4741|,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|19/24|c.1964+48C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|17/22|c.1883+48C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|17/22|c.1886+48C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|17/22|c.1883+48C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|11/16|c.1139+48C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|8/13|c.767+48C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 50877144 . C T . . ANN=T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|20/25|c.2081C>T|p.Pro694Leu|2451/3415|2081/2901|694/966||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|18/23|c.2000C>T|p.Pro667Leu|2394/4030|2000/2784|667/927||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|18/23|c.2003C>T|p.Pro668Leu|2378/3304|2003/2802|668/933||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|18/23|c.2000C>T|p.Pro667Leu|2367/3293|2000/2799|667/932||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|12/17|c.1256C>T|p.Pro419Leu|1257/2199|1256/2055|419/684||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|9/14|c.884C>T|p.Pro295Leu|885/1811|884/1686|295/561||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.-1C>T|||||1038|,T|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron||n.-1C>T|||||4372| 22 50877156 . A C . . ANN=C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|20/25|c.2093A>C|p.Lys698Thr|2463/3415|2093/2901|698/966||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|18/23|c.2012A>C|p.Lys671Thr|2406/4030|2012/2784|671/927||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|18/23|c.2015A>C|p.Lys672Thr|2390/3304|2015/2802|672/933||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|18/23|c.2012A>C|p.Lys671Thr|2379/3293|2012/2799|671/932||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|12/17|c.1268A>C|p.Lys423Thr|1269/2199|1268/2055|423/684||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|9/14|c.896A>C|p.Lys299Thr|897/1811|896/1686|299/561||WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.-1A>C|||||1026|,C|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron||n.-1A>C|||||4360| 22 50877165 . CG C . . ANN=|frameshift_variant|HIGH|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|20/25|c.2103delG|p.Ala701fs|2473/3415|2103/2901|701/966||,|frameshift_variant|HIGH|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|18/23|c.2022delG|p.Ala674fs|2416/4030|2022/2784|674/927||,|frameshift_variant|HIGH|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|18/23|c.2025delG|p.Ala675fs|2400/3304|2025/2802|675/933||,|frameshift_variant|HIGH|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|18/23|c.2022delG|p.Ala674fs|2389/3293|2022/2799|674/932||,|frameshift_variant|HIGH|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|12/17|c.1278delG|p.Ala426fs|1279/2199|1278/2055|426/684||,|frameshift_variant|HIGH|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|9/14|c.906delG|p.Ala302fs|907/1811|906/1686|302/561||WARNING_TRANSCRIPT_NO_START_CODON,|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.-1delG|||||1016|,|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron||n.-1delG|||||4350|;LOF=(PPP6R2|ENSG00000100239|8|0.75) 22 50877166 . G C . . ANN=C|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|20/25|c.2103G>C|p.Ala701Ala|2473/3415|2103/2901|701/966||,C|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|18/23|c.2022G>C|p.Ala674Ala|2416/4030|2022/2784|674/927||,C|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|18/23|c.2025G>C|p.Ala675Ala|2400/3304|2025/2802|675/933||,C|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|18/23|c.2022G>C|p.Ala674Ala|2389/3293|2022/2799|674/932||,C|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|12/17|c.1278G>C|p.Ala426Ala|1279/2199|1278/2055|426/684||,C|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|9/14|c.906G>C|p.Ala302Ala|907/1811|906/1686|302/561||WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.-1G>C|||||1016|,C|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron||n.-1G>C|||||4350| 22 50877170 . C G . . ANN=G|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|20/25|c.2107C>G|p.Pro703Ala|2477/3415|2107/2901|703/966||,G|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|18/23|c.2026C>G|p.Pro676Ala|2420/4030|2026/2784|676/927||,G|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|18/23|c.2029C>G|p.Pro677Ala|2404/3304|2029/2802|677/933||,G|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|18/23|c.2026C>G|p.Pro676Ala|2393/3293|2026/2799|676/932||,G|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|12/17|c.1282C>G|p.Pro428Ala|1283/2199|1282/2055|428/684||,G|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|9/14|c.910C>G|p.Pro304Ala|911/1811|910/1686|304/561||WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.-1C>G|||||1012|,G|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron||n.-1C>G|||||4346| 22 50877203 . C T . . ANN=T|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.-1C>T|||||979|,T|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron||n.-1C>T|||||4313|,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|20/24|c.2128+12C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|18/22|c.2047+12C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|18/22|c.2050+12C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|18/22|c.2047+12C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|12/16|c.1303+12C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|9/13|c.931+12C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 50877216 . G C . . ANN=C|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.-1G>C|||||966|,C|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron||n.-1G>C|||||4300|,C|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|20/24|c.2128+25G>C||||||,C|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|18/22|c.2047+25G>C||||||,C|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|18/22|c.2050+25G>C||||||,C|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|18/22|c.2047+25G>C||||||,C|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|12/16|c.1303+25G>C||||||,C|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|9/13|c.931+25G>C||||||WARNING_TRANSCRIPT_NO_START_CODON 22 50877229 . G A . . ANN=A|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.-1G>A|||||953|,A|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron||n.-1G>A|||||4287|,A|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|20/24|c.2128+38G>A||||||,A|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|18/22|c.2047+38G>A||||||,A|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|18/22|c.2050+38G>A||||||,A|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|18/22|c.2047+38G>A||||||,A|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|12/16|c.1303+38G>A||||||,A|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|9/13|c.931+38G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 50878134 . C T . . ANN=T|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|21/25|c.2133C>T|p.Ala711Ala|2503/3415|2133/2901|711/966||,T|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|19/23|c.2055C>T|p.Ala685Ala|2449/4030|2055/2784|685/927||,T|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|19/23|c.2055C>T|p.Ala685Ala|2430/3304|2055/2802|685/933||,T|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|19/23|c.2052C>T|p.Ala684Ala|2419/3293|2052/2799|684/932||,T|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|13/17|c.1308C>T|p.Ala436Ala|1309/2199|1308/2055|436/684||,T|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|10/14|c.939C>T|p.Ala313Ala|940/1811|939/1686|313/561||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.-1C>T|||||48|,T|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron||n.-1C>T|||||3382| 22 50878143 . G A . . ANN=A|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|21/25|c.2142G>A|p.Thr714Thr|2512/3415|2142/2901|714/966||,A|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|19/23|c.2064G>A|p.Thr688Thr|2458/4030|2064/2784|688/927||,A|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|19/23|c.2064G>A|p.Thr688Thr|2439/3304|2064/2802|688/933||,A|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|19/23|c.2061G>A|p.Thr687Thr|2428/3293|2061/2799|687/932||,A|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|13/17|c.1317G>A|p.Thr439Thr|1318/2199|1317/2055|439/684||,A|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|10/14|c.948G>A|p.Thr316Thr|949/1811|948/1686|316/561||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.-1G>A|||||39|,A|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron||n.-1G>A|||||3373| 22 50878183 . C G . . ANN=G|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|21/25|c.2182C>G|p.Pro728Ala|2552/3415|2182/2901|728/966||,G|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|19/23|c.2104C>G|p.Pro702Ala|2498/4030|2104/2784|702/927||,G|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|19/23|c.2104C>G|p.Pro702Ala|2479/3304|2104/2802|702/933||,G|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|19/23|c.2101C>G|p.Pro701Ala|2468/3293|2101/2799|701/932||,G|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|13/17|c.1357C>G|p.Pro453Ala|1358/2199|1357/2055|453/684||,G|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|10/14|c.988C>G|p.Pro330Ala|989/1811|988/1686|330/561||WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron||n.-1C>G|||||3333|,G|non_coding_exon_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron|1/2|n.2C>G|||||| 22 50878196 . G A . . ANN=A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|21/25|c.2195G>A|p.Arg732Lys|2565/3415|2195/2901|732/966||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|19/23|c.2117G>A|p.Arg706Lys|2511/4030|2117/2784|706/927||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|19/23|c.2117G>A|p.Arg706Lys|2492/3304|2117/2802|706/933||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|19/23|c.2114G>A|p.Arg705Lys|2481/3293|2114/2799|705/932||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|13/17|c.1370G>A|p.Arg457Lys|1371/2199|1370/2055|457/684||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|10/14|c.1001G>A|p.Arg334Lys|1002/1811|1001/1686|334/561||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron||n.-1G>A|||||3320|,A|non_coding_exon_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron|1/2|n.15G>A|||||| 22 50878275 . A G . . ANN=G|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|21/25|c.2274A>G|p.Gln758Gln|2644/3415|2274/2901|758/966||,G|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|19/23|c.2196A>G|p.Gln732Gln|2590/4030|2196/2784|732/927||,G|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|19/23|c.2196A>G|p.Gln732Gln|2571/3304|2196/2802|732/933||,G|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|19/23|c.2193A>G|p.Gln731Gln|2560/3293|2193/2799|731/932||,G|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|13/17|c.1449A>G|p.Gln483Gln|1450/2199|1449/2055|483/684||,G|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|10/14|c.1080A>G|p.Gln360Gln|1081/1811|1080/1686|360/561||WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron||n.-1A>G|||||3241|,G|non_coding_exon_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron|1/2|n.94A>G|||||| 22 50878306 . G C . . ANN=C|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron||n.-1G>C|||||3210|,C|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|21/24|c.2285+20G>C||||||,C|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|19/22|c.2207+20G>C||||||,C|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|19/22|c.2207+20G>C||||||,C|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|19/22|c.2204+20G>C||||||,C|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|13/16|c.1460+20G>C||||||,C|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|10/13|c.1091+20G>C||||||WARNING_TRANSCRIPT_NO_START_CODON,C|non_coding_exon_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron|1/2|n.125G>C|||||| 22 50878409 . T A . . ANN=A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|22/25|c.2305T>A|p.Cys769Ser|2675/3415|2305/2901|769/966||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|20/23|c.2227T>A|p.Cys743Ser|2621/4030|2227/2784|743/927||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|20/23|c.2227T>A|p.Cys743Ser|2602/3304|2227/2802|743/933||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|20/23|c.2224T>A|p.Cys742Ser|2591/3293|2224/2799|742/932||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|14/17|c.1480T>A|p.Cys494Ser|1481/2199|1480/2055|494/684||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|11/14|c.1111T>A|p.Cys371Ser|1112/1811|1111/1686|371/561||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron||n.-1T>A|||||3107|,A|non_coding_exon_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron|1/2|n.228T>A|||||| 22 50878419 . C T . . ANN=T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|22/25|c.2315C>T|p.Pro772Leu|2685/3415|2315/2901|772/966||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|20/23|c.2237C>T|p.Pro746Leu|2631/4030|2237/2784|746/927||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|20/23|c.2237C>T|p.Pro746Leu|2612/3304|2237/2802|746/933||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|20/23|c.2234C>T|p.Pro745Leu|2601/3293|2234/2799|745/932||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|14/17|c.1490C>T|p.Pro497Leu|1491/2199|1490/2055|497/684||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|11/14|c.1121C>T|p.Pro374Leu|1122/1811|1121/1686|374/561||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron||n.-1C>T|||||3097|,T|non_coding_exon_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron|1/2|n.238C>T|||||| 22 50878441 . T C . . ANN=C|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|22/25|c.2337T>C|p.His779His|2707/3415|2337/2901|779/966||,C|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|20/23|c.2259T>C|p.His753His|2653/4030|2259/2784|753/927||,C|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|20/23|c.2259T>C|p.His753His|2634/3304|2259/2802|753/933||,C|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|20/23|c.2256T>C|p.His752His|2623/3293|2256/2799|752/932||,C|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|14/17|c.1512T>C|p.His504His|1513/2199|1512/2055|504/684||,C|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|11/14|c.1143T>C|p.His381His|1144/1811|1143/1686|381/561||WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron||n.-1T>C|||||3075|,C|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000380817|protein_coding||c.*5866A>G|||||4988|,C|non_coding_exon_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron|1/2|n.260T>C|||||| 22 50878449 . G A . . ANN=A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|22/25|c.2345G>A|p.Gly782Asp|2715/3415|2345/2901|782/966||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|20/23|c.2267G>A|p.Gly756Asp|2661/4030|2267/2784|756/927||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|20/23|c.2267G>A|p.Gly756Asp|2642/3304|2267/2802|756/933||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|20/23|c.2264G>A|p.Gly755Asp|2631/3293|2264/2799|755/932||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|14/17|c.1520G>A|p.Gly507Asp|1521/2199|1520/2055|507/684||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|11/14|c.1151G>A|p.Gly384Asp|1152/1811|1151/1686|384/561||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron||n.-1G>A|||||3067|,A|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000380817|protein_coding||c.*5866C>T|||||4980|,A|non_coding_exon_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron|1/2|n.268G>A|||||| 22 50879257 . C T . . ANN=T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|23/25|c.2402C>T|p.Pro801Leu|2772/3415|2402/2901|801/966||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|21/23|c.2303C>T|p.Pro768Leu|2697/4030|2303/2784|768/927||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|21/23|c.2303C>T|p.Pro768Leu|2678/3304|2303/2802|768/933||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|21/23|c.2300C>T|p.Pro767Leu|2667/3293|2300/2799|767/932||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|15/17|c.1556C>T|p.Pro519Leu|1557/2199|1556/2055|519/684||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|12/14|c.1187C>T|p.Pro396Leu|1188/1811|1187/1686|396/561||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron||n.-1C>T|||||2259|,T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000380817|protein_coding||c.*5866G>A|||||4172|,T|non_coding_exon_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron|2/2|n.304C>T|||||| 22 50879346 . G A . . ANN=A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|23/25|c.2491G>A|p.Glu831Lys|2861/3415|2491/2901|831/966||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|21/23|c.2392G>A|p.Glu798Lys|2786/4030|2392/2784|798/927||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|21/23|c.2392G>A|p.Glu798Lys|2767/3304|2392/2802|798/933||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|21/23|c.2389G>A|p.Glu797Lys|2756/3293|2389/2799|797/932||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|15/17|c.1645G>A|p.Glu549Lys|1646/2199|1645/2055|549/684||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|12/14|c.1276G>A|p.Glu426Lys|1277/1811|1276/1686|426/561||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron||n.-1G>A|||||2170|,A|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000380817|protein_coding||c.*5866C>T|||||4083|,A|non_coding_exon_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron|2/2|n.393G>A|||||| 22 50879354 . C T . . ANN=T|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|23/25|c.2499C>T|p.Gly833Gly|2869/3415|2499/2901|833/966||,T|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|21/23|c.2400C>T|p.Gly800Gly|2794/4030|2400/2784|800/927||,T|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|21/23|c.2400C>T|p.Gly800Gly|2775/3304|2400/2802|800/933||,T|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|21/23|c.2397C>T|p.Gly799Gly|2764/3293|2397/2799|799/932||,T|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|15/17|c.1653C>T|p.Gly551Gly|1654/2199|1653/2055|551/684||,T|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|12/14|c.1284C>T|p.Gly428Gly|1285/1811|1284/1686|428/561||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron||n.-1C>T|||||2162|,T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000380817|protein_coding||c.*5866G>A|||||4075|,T|non_coding_exon_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron|2/2|n.401C>T|||||| 22 50879355 . G A . . ANN=A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|23/25|c.2500G>A|p.Asp834Asn|2870/3415|2500/2901|834/966||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|21/23|c.2401G>A|p.Asp801Asn|2795/4030|2401/2784|801/927||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|21/23|c.2401G>A|p.Asp801Asn|2776/3304|2401/2802|801/933||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|21/23|c.2398G>A|p.Asp800Asn|2765/3293|2398/2799|800/932||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|15/17|c.1654G>A|p.Asp552Asn|1655/2199|1654/2055|552/684||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|12/14|c.1285G>A|p.Asp429Asn|1286/1811|1285/1686|429/561||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron||n.-1G>A|||||2161|,A|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000380817|protein_coding||c.*5866C>T|||||4074|,A|non_coding_exon_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron|2/2|n.402G>A|||||| 22 50879373 . G C . . ANN=C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|23/25|c.2518G>C|p.Ala840Pro|2888/3415|2518/2901|840/966||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|21/23|c.2419G>C|p.Ala807Pro|2813/4030|2419/2784|807/927||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|21/23|c.2419G>C|p.Ala807Pro|2794/3304|2419/2802|807/933||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|21/23|c.2416G>C|p.Ala806Pro|2783/3293|2416/2799|806/932||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|15/17|c.1672G>C|p.Ala558Pro|1673/2199|1672/2055|558/684||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|12/14|c.1303G>C|p.Ala435Pro|1304/1811|1303/1686|435/561||WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron||n.-1G>C|||||2143|,C|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000380817|protein_coding||c.*5866C>G|||||4056|,C|non_coding_exon_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron|2/2|n.420G>C|||||| 22 50879447 . T G . . ANN=G|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|23/25|c.2592T>G|p.Ala864Ala|2962/3415|2592/2901|864/966||,G|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|21/23|c.2493T>G|p.Ala831Ala|2887/4030|2493/2784|831/927||,G|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|21/23|c.2493T>G|p.Ala831Ala|2868/3304|2493/2802|831/933||,G|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|21/23|c.2490T>G|p.Ala830Ala|2857/3293|2490/2799|830/932||,G|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|15/17|c.1746T>G|p.Ala582Ala|1747/2199|1746/2055|582/684||,G|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|12/14|c.1377T>G|p.Ala459Ala|1378/1811|1377/1686|459/561||WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron||n.-1T>G|||||2069|,G|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000380817|protein_coding||c.*5866A>C|||||3982|,G|non_coding_exon_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron|2/2|n.494T>G|||||| 22 50879471 . C T . . ANN=T|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron||n.-1C>T|||||2045|,T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000380817|protein_coding||c.*5866G>A|||||3958|,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|23/24|c.2600+16C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|21/22|c.2501+16C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|21/22|c.2501+16C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|21/22|c.2498+16C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|15/16|c.1754+16C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|12/13|c.1385+16C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron|2/2|n.518C>T|||||| 22 50879486 . C T . . ANN=T|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron||n.-1C>T|||||2030|,T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000380817|protein_coding||c.*5866G>A|||||3943|,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|23/24|c.2600+31C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|21/22|c.2501+31C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|21/22|c.2501+31C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|21/22|c.2498+31C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|15/16|c.1754+31C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|12/13|c.1385+31C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron|2/2|n.533C>T|||||| 22 50882314 . C T . . ANN=T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|24/25|c.2620C>T|p.Arg874Trp|2990/3415|2620/2901|874/966||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|22/23|c.2521C>T|p.Arg841Trp|2915/4030|2521/2784|841/927||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|22/23|c.2521C>T|p.Arg841Trp|2896/3304|2521/2802|841/933||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|22/23|c.2518C>T|p.Arg840Trp|2885/3293|2518/2799|840/932||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|16/17|c.1774C>T|p.Arg592Trp|1775/2199|1774/2055|592/684||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|13/14|c.1405C>T|p.Arg469Trp|1406/1811|1405/1686|469/561||WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000380817|protein_coding||c.*5866G>A|||||1115|,T|downstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.*550C>T|||||2811|,T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000348911|protein_coding||c.*5709G>A|||||2921|,T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000418590|protein_coding||c.*1246G>A|||||2925|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000470434|retained_intron||n.*2139G>A|||||2941|,T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000473724|retained_intron||n.*446G>A|||||3198|,T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000390679|protein_coding||c.*5789G>A|||||3257|,T|non_coding_exon_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron|1/2|n.799C>T|||||| 22 50882317 . C A . . ANN=A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|24/25|c.2623C>A|p.Leu875Met|2993/3415|2623/2901|875/966||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|22/23|c.2524C>A|p.Leu842Met|2918/4030|2524/2784|842/927||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|22/23|c.2524C>A|p.Leu842Met|2899/3304|2524/2802|842/933||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|22/23|c.2521C>A|p.Leu841Met|2888/3293|2521/2799|841/932||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|16/17|c.1777C>A|p.Leu593Met|1778/2199|1777/2055|593/684||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|13/14|c.1408C>A|p.Leu470Met|1409/1811|1408/1686|470/561||WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000380817|protein_coding||c.*5866G>T|||||1112|,A|downstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.*550C>A|||||2814|,A|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000348911|protein_coding||c.*5709G>T|||||2918|,A|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000418590|protein_coding||c.*1246G>T|||||2922|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000470434|retained_intron||n.*2139G>T|||||2938|,A|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000473724|retained_intron||n.*446G>T|||||3195|,A|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000390679|protein_coding||c.*5789G>T|||||3254|,A|non_coding_exon_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron|1/2|n.802C>A|||||| 22 50882323 . A C . . ANN=C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|24/25|c.2629A>C|p.Ser877Arg|2999/3415|2629/2901|877/966||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|22/23|c.2530A>C|p.Ser844Arg|2924/4030|2530/2784|844/927||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|22/23|c.2530A>C|p.Ser844Arg|2905/3304|2530/2802|844/933||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|22/23|c.2527A>C|p.Ser843Arg|2894/3293|2527/2799|843/932||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|16/17|c.1783A>C|p.Ser595Arg|1784/2199|1783/2055|595/684||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|13/14|c.1414A>C|p.Ser472Arg|1415/1811|1414/1686|472/561||WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000380817|protein_coding||c.*5866T>G|||||1106|,C|downstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.*550A>C|||||2820|,C|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000348911|protein_coding||c.*5709T>G|||||2912|,C|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000418590|protein_coding||c.*1246T>G|||||2916|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000470434|retained_intron||n.*2139T>G|||||2932|,C|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000473724|retained_intron||n.*446T>G|||||3189|,C|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000390679|protein_coding||c.*5789T>G|||||3248|,C|non_coding_exon_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron|1/2|n.808A>C|||||| 22 50882338 . G A . . ANN=A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|24/25|c.2644G>A|p.Ala882Thr|3014/3415|2644/2901|882/966||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|22/23|c.2545G>A|p.Ala849Thr|2939/4030|2545/2784|849/927||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|22/23|c.2545G>A|p.Ala849Thr|2920/3304|2545/2802|849/933||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|22/23|c.2542G>A|p.Ala848Thr|2909/3293|2542/2799|848/932||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|16/17|c.1798G>A|p.Ala600Thr|1799/2199|1798/2055|600/684||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|13/14|c.1429G>A|p.Ala477Thr|1430/1811|1429/1686|477/561||WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000380817|protein_coding||c.*5866C>T|||||1091|,A|downstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.*550G>A|||||2835|,A|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000348911|protein_coding||c.*5709C>T|||||2897|,A|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000418590|protein_coding||c.*1246C>T|||||2901|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000470434|retained_intron||n.*2139C>T|||||2917|,A|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000473724|retained_intron||n.*446C>T|||||3174|,A|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000390679|protein_coding||c.*5789C>T|||||3233|,A|non_coding_exon_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron|1/2|n.823G>A|||||| 22 50882367 . C T . . ANN=T|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|24/25|c.2673C>T|p.Ala891Ala|3043/3415|2673/2901|891/966||,T|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|22/23|c.2574C>T|p.Ala858Ala|2968/4030|2574/2784|858/927||,T|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|22/23|c.2574C>T|p.Ala858Ala|2949/3304|2574/2802|858/933||,T|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|22/23|c.2571C>T|p.Ala857Ala|2938/3293|2571/2799|857/932||,T|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|16/17|c.1827C>T|p.Ala609Ala|1828/2199|1827/2055|609/684||,T|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|13/14|c.1458C>T|p.Ala486Ala|1459/1811|1458/1686|486/561||WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000380817|protein_coding||c.*5866G>A|||||1062|,T|downstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.*550C>T|||||2864|,T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000348911|protein_coding||c.*5709G>A|||||2868|,T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000418590|protein_coding||c.*1246G>A|||||2872|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000470434|retained_intron||n.*2139G>A|||||2888|,T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000473724|retained_intron||n.*446G>A|||||3145|,T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000390679|protein_coding||c.*5789G>A|||||3204|,T|non_coding_exon_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron|1/2|n.852C>T|||||| 22 50882368 . G A . . ANN=A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|24/25|c.2674G>A|p.Val892Met|3044/3415|2674/2901|892/966||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|22/23|c.2575G>A|p.Val859Met|2969/4030|2575/2784|859/927||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|22/23|c.2575G>A|p.Val859Met|2950/3304|2575/2802|859/933||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|22/23|c.2572G>A|p.Val858Met|2939/3293|2572/2799|858/932||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|16/17|c.1828G>A|p.Val610Met|1829/2199|1828/2055|610/684||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|13/14|c.1459G>A|p.Val487Met|1460/1811|1459/1686|487/561||WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000380817|protein_coding||c.*5866C>T|||||1061|,A|downstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.*550G>A|||||2865|,A|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000348911|protein_coding||c.*5709C>T|||||2867|,A|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000418590|protein_coding||c.*1246C>T|||||2871|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000470434|retained_intron||n.*2139C>T|||||2887|,A|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000473724|retained_intron||n.*446C>T|||||3144|,A|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000390679|protein_coding||c.*5789C>T|||||3203|,A|non_coding_exon_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron|1/2|n.853G>A|||||| 22 50882376 . G A . . ANN=A|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|24/25|c.2682G>A|p.Val894Val|3052/3415|2682/2901|894/966||,A|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|22/23|c.2583G>A|p.Val861Val|2977/4030|2583/2784|861/927||,A|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|22/23|c.2583G>A|p.Val861Val|2958/3304|2583/2802|861/933||,A|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|22/23|c.2580G>A|p.Val860Val|2947/3293|2580/2799|860/932||,A|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|16/17|c.1836G>A|p.Val612Val|1837/2199|1836/2055|612/684||,A|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|13/14|c.1467G>A|p.Val489Val|1468/1811|1467/1686|489/561||WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000380817|protein_coding||c.*5866C>T|||||1053|,A|downstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.*550G>A|||||2873|,A|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000348911|protein_coding||c.*5709C>T|||||2859|,A|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000418590|protein_coding||c.*1246C>T|||||2863|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000470434|retained_intron||n.*2139C>T|||||2879|,A|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000473724|retained_intron||n.*446C>T|||||3136|,A|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000390679|protein_coding||c.*5789C>T|||||3195|,A|non_coding_exon_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron|1/2|n.861G>A|||||| 22 50882427 . C T . . ANN=T|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|24/25|c.2733C>T|p.Pro911Pro|3103/3415|2733/2901|911/966||,T|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|22/23|c.2634C>T|p.Pro878Pro|3028/4030|2634/2784|878/927||,T|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|22/23|c.2634C>T|p.Pro878Pro|3009/3304|2634/2802|878/933||,T|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|22/23|c.2631C>T|p.Pro877Pro|2998/3293|2631/2799|877/932||,T|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|16/17|c.1887C>T|p.Pro629Pro|1888/2199|1887/2055|629/684||,T|synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|13/14|c.1518C>T|p.Pro506Pro|1519/1811|1518/1686|506/561||WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000380817|protein_coding||c.*5866G>A|||||1002|,T|downstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.*550C>T|||||2924|,T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000348911|protein_coding||c.*5709G>A|||||2808|,T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000418590|protein_coding||c.*1246G>A|||||2812|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000470434|retained_intron||n.*2139G>A|||||2828|,T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000473724|retained_intron||n.*446G>A|||||3085|,T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000390679|protein_coding||c.*5789G>A|||||3144|,T|non_coding_exon_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron|1/2|n.912C>T|||||| 22 50882428 . G C . . ANN=C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|24/25|c.2734G>C|p.Ala912Pro|3104/3415|2734/2901|912/966||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|22/23|c.2635G>C|p.Ala879Pro|3029/4030|2635/2784|879/927||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|22/23|c.2635G>C|p.Ala879Pro|3010/3304|2635/2802|879/933||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|22/23|c.2632G>C|p.Ala878Pro|2999/3293|2632/2799|878/932||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|16/17|c.1888G>C|p.Ala630Pro|1889/2199|1888/2055|630/684||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|13/14|c.1519G>C|p.Ala507Pro|1520/1811|1519/1686|507/561||WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000380817|protein_coding||c.*5866C>G|||||1001|,C|downstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.*550G>C|||||2925|,C|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000348911|protein_coding||c.*5709C>G|||||2807|,C|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000418590|protein_coding||c.*1246C>G|||||2811|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000470434|retained_intron||n.*2139C>G|||||2827|,C|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000473724|retained_intron||n.*446C>G|||||3084|,C|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000390679|protein_coding||c.*5789C>G|||||3143|,C|non_coding_exon_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron|1/2|n.913G>C|||||| 22 50882544 . C T . . ANN=T|splice_region_variant&synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|24/25|c.2850C>T|p.Asp950Asp|3220/3415|2850/2901|950/966||,T|splice_region_variant&synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|22/23|c.2751C>T|p.Asp917Asp|3145/4030|2751/2784|917/927||,T|splice_region_variant&synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|22/23|c.2751C>T|p.Asp917Asp|3126/3304|2751/2802|917/933||,T|splice_region_variant&synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|22/23|c.2748C>T|p.Asp916Asp|3115/3293|2748/2799|916/932||,T|splice_region_variant&synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|16/17|c.2004C>T|p.Asp668Asp|2005/2199|2004/2055|668/684||,T|splice_region_variant&synonymous_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|13/14|c.1635C>T|p.Asp545Asp|1636/1811|1635/1686|545/561||WARNING_TRANSCRIPT_NO_START_CODON,T|splice_region_variant&non_coding_exon_variant|LOW|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron|1/2|n.1029C>T||||||,T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000380817|protein_coding||c.*5866G>A|||||885|,T|downstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.*550C>T|||||3041|,T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000348911|protein_coding||c.*5709G>A|||||2691|,T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000418590|protein_coding||c.*1246G>A|||||2695|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000470434|retained_intron||n.*2139G>A|||||2711|,T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000473724|retained_intron||n.*446G>A|||||2968|,T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000390679|protein_coding||c.*5789G>A|||||3027| 22 50882572 . G T . . ANN=T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000380817|protein_coding||c.*5866C>A|||||857|,T|downstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.*550G>T|||||3069|,T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000348911|protein_coding||c.*5709C>A|||||2663|,T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000418590|protein_coding||c.*1246C>A|||||2667|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000470434|retained_intron||n.*2139C>A|||||2683|,T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000473724|retained_intron||n.*446C>A|||||2940|,T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000390679|protein_coding||c.*5789C>A|||||2999|,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|24/24|c.2852+26G>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|22/22|c.2753+26G>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|22/22|c.2753+26G>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|22/22|c.2750+26G>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|16/16|c.2006+26G>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|13/13|c.1637+26G>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron|1/1|n.1031+26G>T|||||| 22 50882589 . C G . . ANN=G|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000380817|protein_coding||c.*5866G>C|||||840|,G|downstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.*550C>G|||||3086|,G|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000348911|protein_coding||c.*5709G>C|||||2646|,G|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000418590|protein_coding||c.*1246G>C|||||2650|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000470434|retained_intron||n.*2139G>C|||||2666|,G|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000473724|retained_intron||n.*446G>C|||||2923|,G|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000390679|protein_coding||c.*5789G>C|||||2982|,G|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|24/24|c.2853-39C>G||||||,G|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|22/22|c.2753+43C>G||||||,G|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|22/22|c.2754-39C>G||||||,G|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|22/22|c.2751-39C>G||||||,G|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|16/16|c.2007-39C>G||||||,G|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|13/13|c.1638-39C>G||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron|1/1|n.1032-39C>G|||||| 22 50882590 . G A . . ANN=A|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000380817|protein_coding||c.*5866C>T|||||839|,A|downstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.*550G>A|||||3087|,A|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000348911|protein_coding||c.*5709C>T|||||2645|,A|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000418590|protein_coding||c.*1246C>T|||||2649|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000470434|retained_intron||n.*2139C>T|||||2665|,A|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000473724|retained_intron||n.*446C>T|||||2922|,A|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000390679|protein_coding||c.*5789C>T|||||2981|,A|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|24/24|c.2853-38G>A||||||,A|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|22/22|c.2754-42G>A||||||,A|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|22/22|c.2754-38G>A||||||,A|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|22/22|c.2751-38G>A||||||,A|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|16/16|c.2007-38G>A||||||,A|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|13/13|c.1638-38G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron|1/1|n.1032-38G>A|||||| 22 50882600 . C T . . ANN=T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000380817|protein_coding||c.*5866G>A|||||829|,T|downstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.*550C>T|||||3097|,T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000348911|protein_coding||c.*5709G>A|||||2635|,T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000418590|protein_coding||c.*1246G>A|||||2639|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000470434|retained_intron||n.*2139G>A|||||2655|,T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000473724|retained_intron||n.*446G>A|||||2912|,T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000390679|protein_coding||c.*5789G>A|||||2971|,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|24/24|c.2853-28C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|22/22|c.2754-32C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|22/22|c.2754-28C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|22/22|c.2751-28C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|16/16|c.2007-28C>T||||||,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|13/13|c.1638-28C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron|1/1|n.1032-28C>T|||||| 22 50882635 . G C . . ANN=C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|25/25|c.2860G>C|p.Asp954His|3230/3415|2860/2901|954/966||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|23/23|c.2757G>C|p.Gln919His|3151/4030|2757/2784|919/927||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|23/23|c.2761G>C|p.Asp921His|3136/3304|2761/2802|921/933||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|23/23|c.2758G>C|p.Asp920His|3125/3293|2758/2799|920/932||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|17/17|c.2014G>C|p.Asp672His|2015/2199|2014/2055|672/684||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|14/14|c.1645G>C|p.Asp549His|1646/1811|1645/1686|549/561||WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000380817|protein_coding||c.*5866C>G|||||794|,C|downstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.*550G>C|||||3132|,C|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000348911|protein_coding||c.*5709C>G|||||2600|,C|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000418590|protein_coding||c.*1246C>G|||||2604|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000470434|retained_intron||n.*2139C>G|||||2620|,C|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000473724|retained_intron||n.*446C>G|||||2877|,C|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000390679|protein_coding||c.*5789C>G|||||2936|,C|non_coding_exon_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron|2/2|n.1039G>C|||||| 22 50882671 . G T . . ANN=T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|25/25|c.2896G>T|p.Val966Leu|3266/3415|2896/2901|966/966||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|23/23|c.2797G>T|p.Val933Leu|3172/3304|2797/2802|933/933||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|23/23|c.2794G>T|p.Val932Leu|3161/3293|2794/2799|932/932||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|17/17|c.2050G>T|p.Val684Leu|2051/2199|2050/2055|684/684||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|14/14|c.1681G>T|p.Val561Leu|1682/1811|1681/1686|561/561||WARNING_TRANSCRIPT_NO_START_CODON,T|3_prime_UTR_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|23/23|c.*9G>T|||||9|,T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000380817|protein_coding||c.*5866C>A|||||758|,T|downstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.*550G>T|||||3168|,T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000348911|protein_coding||c.*5709C>A|||||2564|,T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000418590|protein_coding||c.*1246C>A|||||2568|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000470434|retained_intron||n.*2139C>A|||||2584|,T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000473724|retained_intron||n.*446C>A|||||2841|,T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000390679|protein_coding||c.*5789C>A|||||2900|,T|non_coding_exon_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron|2/2|n.1075G>T|||||| 22 50920375 . C T . . ANN=T|synonymous_variant|LOW|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding|1/2|c.99C>T|p.Pro33Pro|391/4276|99/447|33/148||,T|synonymous_variant|LOW|ADM2|ENSG00000128165|transcript|ENST00000395737|protein_coding|2/3|c.99C>T|p.Pro33Pro|150/535|99/447|33/148||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding|1/2|c.-152C>T||||||,T|sequence_feature|LOW|ADM2|ENSG00000128165|maturation_peptide|ENST00000395737|protein_coding|3/3|c.99C>T||||||,T|sequence_feature|LOW|ADM2|ENSG00000128165|maturation_peptide|ENST00000395737|protein_coding|2/3|c.99C>T||||||,T|5_prime_UTR_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding|1/2|c.-152C>T|||||761|,T|upstream_gene_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding||c.-75C>T|||||4878|,T|upstream_gene_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding||c.-115C>T|||||4838|,T|upstream_gene_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding||c.-23C>T|||||4930| 22 50921076 . G A . . ANN=A|missense_variant|MODERATE|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding|2/2|c.191G>A|p.Arg64Gln|483/4276|191/447|64/148||,A|missense_variant|MODERATE|ADM2|ENSG00000128165|transcript|ENST00000395737|protein_coding|3/3|c.191G>A|p.Arg64Gln|242/535|191/447|64/148||,A|sequence_feature|LOW|ADM2|ENSG00000128165|maturation_peptide|ENST00000395737|protein_coding|3/3|c.191G>A||||||,A|sequence_feature|LOW|ADM2|ENSG00000128165|maturation_peptide|ENST00000395737|protein_coding|2/3|c.191G>A||||||,A|5_prime_UTR_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding|2/2|c.-60G>A|||||60|,A|upstream_gene_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding||c.-75G>A|||||4177|,A|upstream_gene_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding||c.-115G>A|||||4137|,A|upstream_gene_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding||c.-23G>A|||||4229|,A|upstream_gene_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding||c.-1G>A|||||4738|WARNING_TRANSCRIPT_NO_START_CODON 22 50921129 . C T . . ANN=T|missense_variant|MODERATE|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding|2/2|c.244C>T|p.Leu82Phe|536/4276|244/447|82/148||,T|missense_variant|MODERATE|ADM2|ENSG00000128165|transcript|ENST00000395737|protein_coding|3/3|c.244C>T|p.Leu82Phe|295/535|244/447|82/148||,T|sequence_feature|LOW|ADM2|ENSG00000128165|maturation_peptide|ENST00000395737|protein_coding|3/3|c.244C>T||||||,T|sequence_feature|LOW|ADM2|ENSG00000128165|maturation_peptide|ENST00000395737|protein_coding|2/3|c.244C>T||||||,T|5_prime_UTR_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding|2/2|c.-7C>T|||||7|,T|upstream_gene_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding||c.-75C>T|||||4124|,T|upstream_gene_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding||c.-115C>T|||||4084|,T|upstream_gene_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding||c.-23C>T|||||4176|,T|upstream_gene_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding||c.-1C>T|||||4685|WARNING_TRANSCRIPT_NO_START_CODON 22 50921132 . C A . . ANN=A|synonymous_variant|LOW|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding|2/2|c.247C>A|p.Arg83Arg|539/4276|247/447|83/148||,A|synonymous_variant|LOW|ADM2|ENSG00000128165|transcript|ENST00000395737|protein_coding|3/3|c.247C>A|p.Arg83Arg|298/535|247/447|83/148||,A|sequence_feature|LOW|ADM2|ENSG00000128165|maturation_peptide|ENST00000395737|protein_coding|3/3|c.247C>A||||||,A|sequence_feature|LOW|ADM2|ENSG00000128165|maturation_peptide|ENST00000395737|protein_coding|2/3|c.247C>A||||||,A|5_prime_UTR_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding|2/2|c.-4C>A|||||4|,A|upstream_gene_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding||c.-75C>A|||||4121|,A|upstream_gene_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding||c.-115C>A|||||4081|,A|upstream_gene_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding||c.-23C>A|||||4173|,A|upstream_gene_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding||c.-1C>A|||||4682|WARNING_TRANSCRIPT_NO_START_CODON 22 50921148 . AACACTCGGGCCCCCGAAG A . . ANN=|disruptive_inframe_deletion|MODERATE|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding|2/2|c.29_46delAAGACACTCGGGCCCCCG|p.Glu10_Pro15del|544/4246|29/699|10/232||INFO_REALIGN_3_PRIME,|disruptive_inframe_deletion|MODERATE|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding|2/2|c.279_296delAAGACACTCGGGCCCCCG|p.Arg94_Arg99del|571/4276|279/447|93/148||INFO_REALIGN_3_PRIME,|disruptive_inframe_deletion|MODERATE|ADM2|ENSG00000128165|transcript|ENST00000395737|protein_coding|3/3|c.279_296delAAGACACTCGGGCCCCCG|p.Arg94_Arg99del|330/535|279/447|93/148||INFO_REALIGN_3_PRIME,|sequence_feature|LOW|ADM2|ENSG00000128165|maturation_peptide|ENST00000395737|protein_coding|3/3|c.264_281delACACTCGGGCCCCCGAAG||||||,|sequence_feature|LOW|ADM2|ENSG00000128165|maturation_peptide|ENST00000395737|protein_coding|2/3|c.264_281delACACTCGGGCCCCCGAAG||||||,|upstream_gene_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding||c.-75_-75delACACTCGGGCCCCCGAAG|||||4104|,|upstream_gene_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding||c.-115_-115delACACTCGGGCCCCCGAAG|||||4064|,|upstream_gene_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding||c.-23_-23delACACTCGGGCCCCCGAAG|||||4156|,|upstream_gene_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding||c.-1_-1delACACTCGGGCCCCCGAAG|||||4665|WARNING_TRANSCRIPT_NO_START_CODON 22 50921154 . CGGGCCCCCGAAGACA C . . ANN=|disruptive_inframe_deletion|MODERATE|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding|2/2|c.20_34delGGGCCCCCGAAGACA|p.Arg7_Thr12delinsPro|535/4246|20/699|7/232||,|disruptive_inframe_deletion|MODERATE|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding|2/2|c.270_284delGGGCCCCCGAAGACA|p.Gly91_His95del|562/4276|270/447|90/148||,|disruptive_inframe_deletion|MODERATE|ADM2|ENSG00000128165|transcript|ENST00000395737|protein_coding|3/3|c.270_284delGGGCCCCCGAAGACA|p.Gly91_His95del|321/535|270/447|90/148||,|sequence_feature|LOW|ADM2|ENSG00000128165|maturation_peptide|ENST00000395737|protein_coding|3/3|c.270_284delGGGCCCCCGAAGACA||||||,|sequence_feature|LOW|ADM2|ENSG00000128165|maturation_peptide|ENST00000395737|protein_coding|2/3|c.270_284delGGGCCCCCGAAGACA||||||,|upstream_gene_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding||c.-75_-75delGGGCCCCCGAAGACA|||||4098|,|upstream_gene_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding||c.-115_-115delGGGCCCCCGAAGACA|||||4058|,|upstream_gene_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding||c.-23_-23delGGGCCCCCGAAGACA|||||4150|,|upstream_gene_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding||c.-1_-1delGGGCCCCCGAAGACA|||||4659|WARNING_TRANSCRIPT_NO_START_CODON 22 50925285 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|1/10|c.-42G>A|||||42|,A|5_prime_UTR_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|1/8|c.-42G>A|||||42|,A|upstream_gene_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding||c.-23G>A|||||20|,A|upstream_gene_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding||c.-1G>A|||||529|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214G>A|||||419|,A|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739G>A|||||416|,A|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395737|protein_coding||c.*498G>A|||||3916| 22 50925298 . T A . . ANN=A|5_prime_UTR_premature_start_codon_gain_variant|LOW|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|1/10|c.-29T>A||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|1/8|c.-29T>A||||||,A|5_prime_UTR_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|1/10|c.-29T>A|||||29|,A|5_prime_UTR_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|1/8|c.-29T>A|||||29|,A|upstream_gene_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding||c.-23T>A|||||7|,A|upstream_gene_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding||c.-1T>A|||||516|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214T>A|||||432|,A|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739T>A|||||429|,A|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395737|protein_coding||c.*498T>A|||||3929| 22 50925765 . C T . . ANN=T|upstream_gene_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding||c.-1C>T|||||49|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214C>T|||||899|,T|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739C>T|||||896|,T|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395737|protein_coding||c.*498C>T|||||4396|,T|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|1/9|c.16-49C>T||||||,T|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|1/7|c.16-49C>T||||||,T|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|1/9|c.16-49C>T|||||| 22 50925771 . G A . . ANN=A|upstream_gene_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding||c.-1G>A|||||43|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214G>A|||||905|,A|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739G>A|||||902|,A|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395737|protein_coding||c.*498G>A|||||4402|,A|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|1/9|c.16-43G>A||||||,A|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|1/7|c.16-43G>A||||||,A|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|1/9|c.16-43G>A|||||| 22 50925908 . C T . . ANN=T|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214C>T|||||1042|,T|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739C>T|||||1039|,T|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395737|protein_coding||c.*498C>T|||||4539|,T|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|2/9|c.96+14C>T||||||,T|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|2/7|c.96+14C>T||||||,T|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|2/9|c.96+14C>T||||||,T|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|1/8|c.81+14C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 50925914 . GC G . . ANN=|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214delC|||||1049|,|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739delC|||||1046|,|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395737|protein_coding||c.*498delC|||||4546|,|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|2/9|c.96+26delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|2/7|c.96+26delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|2/9|c.96+26delC||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|1/8|c.81+26delC||||||WARNING_TRANSCRIPT_NO_START_CODON&INFO_REALIGN_3_PRIME 22 50925943 . G A . . ANN=A|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214G>A|||||1077|,A|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739G>A|||||1074|,A|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395737|protein_coding||c.*498G>A|||||4574|,A|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|2/9|c.96+49G>A||||||,A|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|2/7|c.96+49G>A||||||,A|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|2/9|c.96+49G>A||||||,A|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|1/8|c.81+49G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 50926045 . C T . . ANN=T|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214C>T|||||1179|,T|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739C>T|||||1176|,T|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395737|protein_coding||c.*498C>T|||||4676|,T|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|2/9|c.97-46C>T||||||,T|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|2/7|c.97-46C>T||||||,T|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|2/9|c.97-46C>T||||||,T|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|1/8|c.82-46C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 50926070 . C T . . ANN=T|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214C>T|||||1204|,T|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739C>T|||||1201|,T|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395737|protein_coding||c.*498C>T|||||4701|,T|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|2/9|c.97-21C>T||||||,T|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|2/7|c.97-21C>T||||||,T|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|2/9|c.97-21C>T||||||,T|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|1/8|c.82-21C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 50926082 . G A . . ANN=A|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214G>A|||||1216|,A|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739G>A|||||1213|,A|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395737|protein_coding||c.*498G>A|||||4713|,A|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|2/9|c.97-9G>A||||||,A|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|2/7|c.97-9G>A||||||,A|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|2/9|c.97-9G>A||||||,A|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|1/8|c.82-9G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 50926132 . C T . . ANN=T|synonymous_variant|LOW|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|3/10|c.138C>T|p.Leu46Leu|212/1130|138/858|46/285||,T|synonymous_variant|LOW|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|3/8|c.138C>T|p.Leu46Leu|252/1021|138/696|46/231||,T|synonymous_variant|LOW|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|3/10|c.138C>T|p.Leu46Leu|160/1658|138/813|46/270||,T|synonymous_variant|LOW|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|2/9|c.123C>T|p.Leu41Leu|123/918|123/798|41/265||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000216075|protein_coding|3/10|c.138C>T||||||,T|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000395733|protein_coding|3/8|c.138C>T||||||,T|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214C>T|||||1266|,T|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739C>T|||||1263|,T|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395737|protein_coding||c.*498C>T|||||4763| 22 50926181 . T G . . ANN=G|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000216075|protein_coding|4/10|c.177+10T>G||||||,G|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000216075|protein_coding|3/10|c.177+10T>G||||||,G|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000395733|protein_coding|4/8|c.177+10T>G||||||,G|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000395733|protein_coding|3/8|c.177+10T>G||||||,G|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214T>G|||||1315|,G|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739T>G|||||1312|,G|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395737|protein_coding||c.*498T>G|||||4812|,G|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|3/9|c.177+10T>G||||||,G|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|3/7|c.177+10T>G||||||,G|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|3/9|c.177+10T>G||||||,G|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|2/8|c.162+10T>G||||||WARNING_TRANSCRIPT_NO_START_CODON 22 50926192 . C T . . ANN=T|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000216075|protein_coding|4/10|c.177+21C>T||||||,T|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000216075|protein_coding|3/10|c.177+21C>T||||||,T|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000395733|protein_coding|4/8|c.177+21C>T||||||,T|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000395733|protein_coding|3/8|c.177+21C>T||||||,T|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214C>T|||||1326|,T|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739C>T|||||1323|,T|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395737|protein_coding||c.*498C>T|||||4823|,T|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|3/9|c.177+21C>T||||||,T|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|3/7|c.177+21C>T||||||,T|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|3/9|c.177+21C>T||||||,T|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|2/8|c.162+21C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 50926366 . G A . . ANN=A|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|4/10|c.229G>A|p.Val77Met|303/1130|229/858|77/285||,A|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|4/8|c.229G>A|p.Val77Met|343/1021|229/696|77/231||,A|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|4/10|c.229G>A|p.Val77Met|251/1658|229/813|77/270||,A|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|3/9|c.214G>A|p.Val72Met|214/918|214/798|72/265||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000216075|protein_coding|4/10|c.229G>A||||||,A|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000395733|protein_coding|4/8|c.229G>A||||||,A|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214G>A|||||1500|,A|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739G>A|||||1497|,A|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395737|protein_coding||c.*498G>A|||||4997| 22 50926407 . C T . . ANN=T|synonymous_variant|LOW|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|4/10|c.270C>T|p.Asp90Asp|344/1130|270/858|90/285||,T|synonymous_variant|LOW|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|4/8|c.270C>T|p.Asp90Asp|384/1021|270/696|90/231||,T|synonymous_variant|LOW|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|4/10|c.270C>T|p.Asp90Asp|292/1658|270/813|90/270||,T|synonymous_variant|LOW|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|3/9|c.255C>T|p.Asp85Asp|255/918|255/798|85/265||WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214C>T|||||1541|,T|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739C>T|||||1538| 22 50926439 . A G . . ANN=G|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|4/10|c.302A>G|p.Gln101Arg|376/1130|302/858|101/285||,G|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|4/8|c.302A>G|p.Gln101Arg|416/1021|302/696|101/231||,G|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|4/10|c.302A>G|p.Gln101Arg|324/1658|302/813|101/270||,G|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|3/9|c.287A>G|p.Gln96Arg|287/918|287/798|96/265||WARNING_TRANSCRIPT_NO_START_CODON,G|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000216075|protein_coding|4/10|c.302A>G||||||,G|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000395733|protein_coding|4/8|c.302A>G||||||,G|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214A>G|||||1573|,G|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739A>G|||||1570| 22 50926466 . A G . . ANN=G|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|4/10|c.329A>G|p.His110Arg|403/1130|329/858|110/285||,G|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|4/8|c.329A>G|p.His110Arg|443/1021|329/696|110/231||,G|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|4/10|c.329A>G|p.His110Arg|351/1658|329/813|110/270||,G|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|3/9|c.314A>G|p.His105Arg|314/918|314/798|105/265||WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214A>G|||||1600|,G|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739A>G|||||1597| 22 50926657 . C T . . ANN=T|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000216075|protein_coding|5/10|c.341-47C>T||||||,T|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000216075|protein_coding|4/10|c.341-47C>T||||||,T|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214C>T|||||1791|,T|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739C>T|||||1788|,T|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|4/9|c.341-47C>T||||||,T|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|4/7|c.341-15C>T||||||,T|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|4/9|c.341-47C>T||||||,T|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|3/8|c.326-47C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 50926731 . A G . . ANN=G|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|5/10|c.368A>G|p.His123Arg|442/1130|368/858|123/285||,G|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|5/8|c.400A>G|p.Thr134Ala|514/1021|400/696|134/231||,G|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|5/10|c.368A>G|p.His123Arg|390/1658|368/813|123/270||,G|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|4/9|c.353A>G|p.His118Arg|353/918|353/798|118/265||WARNING_TRANSCRIPT_NO_START_CODON,G|sequence_feature|LOW|MIOX|ENSG00000100253|metal_ion-binding_site:Iron_1|ENST00000216075|protein_coding|5/10|c.368A>G||||||,G|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214A>G|||||1865|,G|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739A>G|||||1862| 22 50926765 . G T . . ANN=T|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|5/10|c.402G>T|p.Glu134Asp|476/1130|402/858|134/285||,T|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|5/8|c.434G>T|p.Ser145Ile|548/1021|434/696|145/231||,T|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|5/10|c.402G>T|p.Glu134Asp|424/1658|402/813|134/270||,T|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|4/9|c.387G>T|p.Glu129Asp|387/918|387/798|129/265||WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214G>T|||||1899|,T|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739G>T|||||1896| 22 50926768 . C T . . ANN=T|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|5/8|c.437C>T|p.Pro146Leu|551/1021|437/696|146/231||,T|synonymous_variant|LOW|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|5/10|c.405C>T|p.Pro135Pro|479/1130|405/858|135/285||,T|synonymous_variant|LOW|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|5/10|c.405C>T|p.Pro135Pro|427/1658|405/813|135/270||,T|synonymous_variant|LOW|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|4/9|c.390C>T|p.Pro130Pro|390/918|390/798|130/265||WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214C>T|||||1902|,T|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739C>T|||||1899| 22 50927441 . G GACTCCCGTC,GCCGCCCGTC . . ANN=ACTCCCGTC|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000216075|protein_coding|5/10|c.409-28_409-27insACTCCCGTC||||||,ACTCCCGTC|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000216075|protein_coding|6/10|c.409-28_409-27insACTCCCGTC||||||,CCGCCCGTC|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000216075|protein_coding|5/10|c.409-28_409-27insCCGCCCGTC||||||,CCGCCCGTC|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000216075|protein_coding|6/10|c.409-28_409-27insCCGCCCGTC||||||,ACTCCCGTC|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214_*1214insACTCCCGTC|||||2576|,CCGCCCGTC|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214_*1214insCCGCCCGTC|||||2576|,ACTCCCGTC|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739_*739insACTCCCGTC|||||2573|,CCGCCCGTC|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739_*739insCCGCCCGTC|||||2573|,ACTCCCGTC|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|5/9|c.409-28_409-27insACTCCCGTC||||||,GCCCGTCCC|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|5/9|c.409-26_409-25insGCCCGTCCC||||||INFO_REALIGN_3_PRIME,ACTCCCGTC|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|5/7|c.441-28_441-27insACTCCCGTC||||||,GCCCGTCCC|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|5/7|c.441-26_441-25insGCCCGTCCC||||||INFO_REALIGN_3_PRIME,ACTCCCGTC|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|5/9|c.409-28_409-27insACTCCCGTC||||||,GCCCGTCCC|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|5/9|c.409-26_409-25insGCCCGTCCC||||||INFO_REALIGN_3_PRIME,ACTCCCGTC|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|4/8|c.394-73_394-72insACTCCCGTC||||||WARNING_TRANSCRIPT_NO_START_CODON,GCCCGTCCC|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|4/8|c.394-71_394-70insGCCCGTCCC||||||WARNING_TRANSCRIPT_NO_START_CODON&INFO_REALIGN_3_PRIME 22 50927442 . C A . . ANN=A|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000216075|protein_coding|5/10|c.409-27C>A||||||,A|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000216075|protein_coding|6/10|c.409-27C>A||||||,A|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214C>A|||||2576|,A|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739C>A|||||2573|,A|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|5/9|c.409-27C>A||||||,A|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|5/7|c.441-27C>A||||||,A|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|5/9|c.409-27C>A||||||,A|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|4/8|c.394-72C>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 50927447 . C CGTCCCTCCT . . ANN=CTGTCCCTC|splice_region_variant&intron_variant|LOW|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|5/9|c.409-14_409-6dupCTGTCCCTC||||||INFO_REALIGN_3_PRIME,CTGTCCCTC|splice_region_variant&intron_variant|LOW|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|5/7|c.441-14_441-6dupCTGTCCCTC||||||INFO_REALIGN_3_PRIME,CTGTCCCTC|splice_region_variant&intron_variant|LOW|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|5/9|c.409-14_409-6dupCTGTCCCTC||||||INFO_REALIGN_3_PRIME,GTCCCTCCT|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000216075|protein_coding|5/10|c.409-22_409-21insGTCCCTCCT||||||,GTCCCTCCT|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000216075|protein_coding|6/10|c.409-22_409-21insGTCCCTCCT||||||,GTCCCTCCT|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214_*1214insGTCCCTCCT|||||2582|,GTCCCTCCT|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739_*739insGTCCCTCCT|||||2579|,CTGTCCCTC|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|4/8|c.394-59_394-51dupCTGTCCCTC||||||WARNING_TRANSCRIPT_NO_START_CODON&INFO_REALIGN_3_PRIME 22 50927545 . A T . . ANN=T|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|6/10|c.485A>T|p.Gln162Leu|559/1130|485/858|162/285||,T|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|6/8|c.517A>T|p.Arg173Trp|631/1021|517/696|173/231||,T|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|6/10|c.485A>T|p.Gln162Leu|507/1658|485/813|162/270||,T|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|5/9|c.425A>T|p.Gln142Leu|425/918|425/798|142/265||WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214A>T|||||2679|,T|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739A>T|||||2676| 22 50927563 . A G . . ANN=G|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|6/10|c.503A>G|p.Gln168Arg|577/1130|503/858|168/285||,G|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|6/8|c.535A>G|p.Arg179Gly|649/1021|535/696|179/231||,G|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|6/10|c.503A>G|p.Gln168Arg|525/1658|503/813|168/270||,G|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|5/9|c.443A>G|p.Gln148Arg|443/918|443/798|148/265||WARNING_TRANSCRIPT_NO_START_CODON,G|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000216075|protein_coding|6/10|c.503A>G||||||,G|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214A>G|||||2697|,G|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739A>G|||||2694| 22 50927618 . C T . . ANN=T|sequence_feature|LOW|MIOX|ENSG00000100253|beta_strand|ENST00000216075|protein_coding|6/10|c.519-39C>T||||||,T|sequence_feature|LOW|MIOX|ENSG00000100253|beta_strand|ENST00000216075|protein_coding|7/10|c.519-39C>T||||||,T|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214C>T|||||2752|,T|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739C>T|||||2749|,T|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|6/9|c.519-39C>T||||||,T|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|6/7|c.551-39C>T||||||,T|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|6/9|c.519-39C>T||||||,T|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|5/8|c.459-39C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 50927693 . C T . . ANN=T|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|7/8|c.587C>T|p.Ser196Leu|701/1021|587/696|196/231||,T|synonymous_variant|LOW|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|7/10|c.555C>T|p.Leu185Leu|629/1130|555/858|185/285||,T|synonymous_variant|LOW|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|7/10|c.555C>T|p.Leu185Leu|577/1658|555/813|185/270||,T|synonymous_variant|LOW|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|6/9|c.495C>T|p.Leu165Leu|495/918|495/798|165/265||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000216075|protein_coding|7/10|c.555C>T||||||,T|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214C>T|||||2827|,T|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739C>T|||||2824| 22 50927745 . TGGGGCGGTGG T . . ANN=|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000216075|protein_coding|8/10|c.586+22_586+31delGGGGCGGTGG||||||,|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000216075|protein_coding|7/10|c.586+22_586+31delGGGGCGGTGG||||||,|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214_*1214delGGGGCGGTGG|||||2880|,|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739_*739delGGGGCGGTGG|||||2877|,|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|7/9|c.586+35_586+44delGCGGTGGGGG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|7/7|c.618+35_618+44delGCGGTGGGGG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|7/9|c.586+35_586+44delGCGGTGGGGG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|6/8|c.526+35_526+44delGCGGTGGGGG||||||WARNING_TRANSCRIPT_NO_START_CODON&INFO_REALIGN_3_PRIME 22 50927769 . A G . . ANN=G|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000216075|protein_coding|8/10|c.586+45A>G||||||,G|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000216075|protein_coding|7/10|c.586+45A>G||||||,G|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214A>G|||||2903|,G|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739A>G|||||2900|,G|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|7/9|c.586+45A>G||||||,G|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|7/7|c.618+45A>G||||||,G|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|7/9|c.586+45A>G||||||,G|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|6/8|c.526+45A>G||||||WARNING_TRANSCRIPT_NO_START_CODON 22 50927779 . G A . . ANN=A|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000216075|protein_coding|8/10|c.587-47G>A||||||,A|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000216075|protein_coding|7/10|c.587-47G>A||||||,A|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214G>A|||||2913|,A|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739G>A|||||2910|,A|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|7/9|c.587-47G>A||||||,A|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|7/7|c.618+55G>A||||||,A|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|7/9|c.587-47G>A||||||,A|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|6/8|c.527-47G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 50927870 . C T . . ANN=T|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|8/10|c.631C>T|p.Pro211Ser|705/1130|631/858|211/285||,T|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|8/10|c.631C>T|p.Pro211Ser|653/1658|631/813|211/270||,T|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|7/9|c.571C>T|p.Pro191Ser|571/918|571/798|191/265||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000216075|protein_coding|8/10|c.631C>T||||||,T|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000216075|protein_coding|9/10|c.631C>T||||||,T|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214C>T|||||3004|,T|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739C>T|||||3001|,T|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|7/7|c.618+146C>T|||||| 22 50927916 . C T . . ANN=T|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000216075|protein_coding|8/10|c.636+41C>T||||||,T|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000216075|protein_coding|9/10|c.636+41C>T||||||,T|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214C>T|||||3050|,T|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739C>T|||||3047|,T|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|8/9|c.636+41C>T||||||,T|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|7/7|c.618+192C>T||||||,T|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|8/9|c.636+41C>T||||||,T|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|7/8|c.576+41C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 50927937 . G A . . ANN=A|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000216075|protein_coding|8/10|c.637-24G>A||||||,A|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000216075|protein_coding|9/10|c.637-24G>A||||||,A|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214G>A|||||3071|,A|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739G>A|||||3068|,A|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|8/9|c.637-24G>A||||||,A|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|7/7|c.618+213G>A||||||,A|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|8/9|c.637-24G>A||||||,A|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|7/8|c.577-24G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 50927956 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|8/9|c.637-5C>T||||||,T|splice_region_variant&intron_variant|LOW|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|8/9|c.637-5C>T||||||,T|splice_region_variant&intron_variant|LOW|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|7/8|c.577-5C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000216075|protein_coding|8/10|c.637-5C>T||||||,T|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000216075|protein_coding|9/10|c.637-5C>T||||||,T|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214C>T|||||3090|,T|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739C>T|||||3087|,T|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|7/7|c.619-221C>T|||||| 22 50927976 . C T . . ANN=T|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|9/10|c.652C>T|p.Arg218Trp|726/1130|652/858|218/285||,T|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|9/10|c.652C>T|p.Arg218Trp|674/1658|652/813|218/270||,T|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|8/9|c.592C>T|p.Arg198Trp|592/918|592/798|198/265||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000216075|protein_coding|8/10|c.652C>T||||||,T|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000216075|protein_coding|9/10|c.652C>T||||||,T|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214C>T|||||3110|,T|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739C>T|||||3107|,T|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|7/7|c.619-201C>T|||||| 22 50927990 . C T . . ANN=T|synonymous_variant|LOW|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|9/10|c.666C>T|p.Phe222Phe|740/1130|666/858|222/285||,T|synonymous_variant|LOW|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|9/10|c.666C>T|p.Phe222Phe|688/1658|666/813|222/270||,T|synonymous_variant|LOW|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|8/9|c.606C>T|p.Phe202Phe|606/918|606/798|202/265||WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214C>T|||||3124|,T|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739C>T|||||3121|,T|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|7/7|c.619-187C>T|||||| 22 50928005 . G A . . ANN=A|synonymous_variant|LOW|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|9/10|c.681G>A|p.Thr227Thr|755/1130|681/858|227/285||,A|synonymous_variant|LOW|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|9/10|c.681G>A|p.Thr227Thr|703/1658|681/813|227/270||,A|synonymous_variant|LOW|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|8/9|c.621G>A|p.Thr207Thr|621/918|621/798|207/265||WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214G>A|||||3139|,A|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739G>A|||||3136|,A|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|7/7|c.619-172G>A|||||| 22 50928010 . G A . . ANN=A|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|9/10|c.686G>A|p.Arg229His|760/1130|686/858|229/285||,A|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|9/10|c.686G>A|p.Arg229His|708/1658|686/813|229/270||,A|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|8/9|c.626G>A|p.Arg209His|626/918|626/798|209/265||WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214G>A|||||3144|,A|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739G>A|||||3141|,A|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|7/7|c.619-167G>A|||||| 22 50928012 . G A . . ANN=A|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|9/10|c.688G>A|p.Asp230Asn|762/1130|688/858|230/285||,A|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|9/10|c.688G>A|p.Asp230Asn|710/1658|688/813|230/270||,A|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|8/9|c.628G>A|p.Asp210Asn|628/918|628/798|210/265||WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214G>A|||||3146|,A|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739G>A|||||3143|,A|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|7/7|c.619-165G>A|||||| 22 50928026 . G A . . ANN=A|synonymous_variant|LOW|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|9/10|c.702G>A|p.Leu234Leu|776/1130|702/858|234/285||,A|synonymous_variant|LOW|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|9/10|c.702G>A|p.Leu234Leu|724/1658|702/813|234/270||,A|synonymous_variant|LOW|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|8/9|c.642G>A|p.Leu214Leu|642/918|642/798|214/265||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|MIOX|ENSG00000100253|turn|ENST00000216075|protein_coding|9/10|c.702G>A||||||,A|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214G>A|||||3160|,A|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739G>A|||||3157|,A|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|7/7|c.619-151G>A|||||| 22 50928082 . C T . . ANN=T|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000216075|protein_coding|10/10|c.749+9C>T||||||,T|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000216075|protein_coding|9/10|c.749+9C>T||||||,T|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214C>T|||||3216|,T|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739C>T|||||3213|,T|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|9/9|c.749+9C>T||||||,T|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|7/7|c.619-95C>T||||||,T|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|9/9|c.735+23C>T||||||,T|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|8/8|c.689+9C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 22 50928083 . G A . . ANN=A|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000216075|protein_coding|10/10|c.749+10G>A||||||,A|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000216075|protein_coding|9/10|c.749+10G>A||||||,A|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214G>A|||||3217|,A|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739G>A|||||3214|,A|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|9/9|c.749+10G>A||||||,A|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|7/7|c.619-94G>A||||||,A|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|9/9|c.735+24G>A||||||,A|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|8/8|c.689+10G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 22 50928179 . A G . . ANN=G|missense_variant&splice_region_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|10/10|c.752A>G|p.Lys251Arg|826/1130|752/858|251/285||,G|missense_variant&splice_region_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|9/9|c.692A>G|p.Lys231Arg|692/918|692/798|231/265||WARNING_TRANSCRIPT_NO_START_CODON,G|splice_region_variant&synonymous_variant|LOW|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|8/8|c.621A>G|p.Gln207Gln|735/1021|621/696|207/231||,G|splice_region_variant&synonymous_variant|LOW|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|10/10|c.738A>G|p.Gln246Gln|760/1658|738/813|246/270||,G|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000216075|protein_coding|10/10|c.752A>G||||||,G|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000216075|protein_coding|9/10|c.752A>G||||||,G|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214A>G|||||3313|,G|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739A>G|||||3310| 22 50928217 . G A . . ANN=A|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|10/10|c.790G>A|p.Val264Met|864/1130|790/858|264/285||,A|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|8/8|c.659G>A|p.Arg220His|773/1021|659/696|220/231||,A|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|10/10|c.776G>A|p.Arg259His|798/1658|776/813|259/270||,A|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|9/9|c.730G>A|p.Val244Met|730/918|730/798|244/265||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000216075|protein_coding|10/10|c.790G>A||||||,A|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214G>A|||||3351|,A|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739G>A|||||3348| 22 50928311 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|10/10|c.*26G>A|||||26|,A|3_prime_UTR_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|8/8|c.*57G>A|||||57|,A|3_prime_UTR_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|10/10|c.*57G>A|||||57|,A|3_prime_UTR_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|9/9|c.*26G>A|||||26|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214G>A|||||3445|,A|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739G>A|||||3442| 22 50928312 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|10/10|c.*27G>A|||||27|,A|3_prime_UTR_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|8/8|c.*58G>A|||||58|,A|3_prime_UTR_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|10/10|c.*58G>A|||||58|,A|3_prime_UTR_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|9/9|c.*27G>A|||||27|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214G>A|||||3446|,A|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739G>A|||||3443| 22 50928331 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|10/10|c.*46G>A|||||46|,A|3_prime_UTR_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|8/8|c.*77G>A|||||77|,A|3_prime_UTR_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|10/10|c.*77G>A|||||77|,A|3_prime_UTR_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|9/9|c.*46G>A|||||46|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214G>A|||||3465|,A|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739G>A|||||3462| 22 50954868 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|1/19|c.109-8T>C||||||,C|splice_region_variant&intron_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|1/19|c.109-8T>C||||||,C|splice_region_variant&intron_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding|1/8|c.109-8T>C||||||,C|splice_region_variant&intron_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|1/18|c.109-8T>C||||||,C|splice_region_variant&intron_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay|1/6|n.92-8T>C||||||,C|splice_region_variant&intron_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay|2/6|n.164-8T>C||||||,C|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.-1T>C|||||3108|,C|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.-1T>C|||||3971|,C|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding|1/9|c.109-988T>C||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50954990 . T TC . . ANN=C|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.-1_-1insC|||||2985|,C|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.-1_-1insC|||||3848|,C|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|2/19|c.210+13_210+14insC||||||,C|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|2/19|c.210+13_210+14insC||||||,C|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding|2/8|c.210+13_210+14insC||||||,C|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|2/18|c.210+13_210+14insC||||||,C|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay|2/6|n.*76+13_*76+14insC||||||,C|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding|1/9|c.109-866_109-865insC||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay|3/6|n.*76+13_*76+14insC|||||| 22 50955833 . C T . . ANN=T|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.-1C>T|||||2143|,T|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.-1C>T|||||3006|,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|2/19|c.211-23C>T||||||,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|2/19|c.211-23C>T||||||,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding|2/8|c.211-23C>T||||||,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|2/18|c.211-23C>T||||||,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay|2/6|n.*77-23C>T||||||,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding|1/9|c.109-23C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay|3/6|n.*77-23C>T|||||| 22 50955946 . A G . . ANN=G|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.-1A>G|||||2030|,G|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.-1A>G|||||2893|,G|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|3/19|c.266+35A>G||||||,G|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|3/19|c.266+35A>G||||||,G|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding|3/8|c.266+35A>G||||||,G|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|3/18|c.266+35A>G||||||,G|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay|3/6|n.*132+35A>G||||||,G|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding|2/9|c.164+35A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay|4/6|n.*132+35A>G|||||| 22 50955980 . G A . . ANN=A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.-1G>A|||||1996|,A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.-1G>A|||||2859|,A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3G>A|||||4974|,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|3/19|c.267-26G>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|3/19|c.267-26G>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding|3/8|c.267-26G>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|3/18|c.267-26G>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay|3/6|n.*133-26G>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding|2/9|c.165-26G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay|4/6|n.*133-26G>A|||||| 22 50956026 . C T . . ANN=T|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|4/20|c.287C>T|p.Ser96Leu|365/1996|287/1821|96/606||,T|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|4/20|c.287C>T|p.Ser96Leu|409/2037|287/1818|96/605||,T|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding|4/9|c.287C>T|p.Ser96Leu|382/1388|287/900|96/299||,T|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|4/19|c.287C>T|p.Ser96Leu|381/2077|287/1770|96/589||,T|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding|3/10|c.185C>T|p.Ser62Leu|277/970|185/878|62/291||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|MODERATE|NCAPH2|ENSG00000025770|amino_acid_modification:Phosphoserine|ENST00000299821|protein_coding|4/20|c.287C>T||||||,T|sequence_feature|MODERATE|NCAPH2|ENSG00000025770|amino_acid_modification:Phosphoserine|ENST00000420993|protein_coding|4/20|c.287C>T||||||,T|sequence_feature|MODERATE|NCAPH2|ENSG00000025770|amino_acid_modification:Phosphoserine|ENST00000395698|protein_coding|4/9|c.287C>T||||||,T|3_prime_UTR_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay|4/7|n.*153C>T|||||1125|,T|3_prime_UTR_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay|5/7|n.*153C>T|||||1125|,T|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.-1C>T|||||1950|,T|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.-1C>T|||||2813|,T|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3C>T|||||4928|,T|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay|4/7|n.*153C>T||||||,T|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay|5/7|n.*153C>T|||||| 22 50956071 . C G . . ANN=G|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|4/20|c.332C>G|p.Pro111Arg|410/1996|332/1821|111/606||,G|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|4/20|c.332C>G|p.Pro111Arg|454/2037|332/1818|111/605||,G|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding|4/9|c.332C>G|p.Pro111Arg|427/1388|332/900|111/299||,G|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|4/19|c.332C>G|p.Pro111Arg|426/2077|332/1770|111/589||,G|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding|3/10|c.230C>G|p.Pro77Arg|322/970|230/878|77/291||WARNING_TRANSCRIPT_INCOMPLETE,G|3_prime_UTR_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay|4/7|n.*198C>G|||||1170|,G|3_prime_UTR_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay|5/7|n.*198C>G|||||1170|,G|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.-1C>G|||||1905|,G|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.-1C>G|||||2768|,G|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3C>G|||||4883|,G|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay|4/7|n.*198C>G||||||,G|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay|5/7|n.*198C>G|||||| 22 50956116 . C T . . ANN=T|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.-1C>T|||||1860|,T|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.-1C>T|||||2723|,T|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3C>T|||||4838|,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|4/19|c.351+26C>T||||||,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|4/19|c.351+26C>T||||||,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding|4/8|c.351+26C>T||||||,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|4/18|c.351+26C>T||||||,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay|4/6|n.*217+26C>T||||||,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding|3/9|c.249+26C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay|5/6|n.*217+26C>T|||||| 22 50956117 . G A . . ANN=A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.-1G>A|||||1859|,A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.-1G>A|||||2722|,A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3G>A|||||4837|,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|4/19|c.351+27G>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|4/19|c.351+27G>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding|4/8|c.351+27G>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|4/18|c.351+27G>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay|4/6|n.*217+27G>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding|3/9|c.249+27G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay|5/6|n.*217+27G>A|||||| 22 50956142 . C T . . ANN=T|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.-1C>T|||||1834|,T|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.-1C>T|||||2697|,T|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3C>T|||||4812|,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|4/19|c.352-28C>T||||||,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|4/19|c.352-28C>T||||||,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding|4/8|c.352-28C>T||||||,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|4/18|c.352-28C>T||||||,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay|4/6|n.*218-28C>T||||||,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding|3/9|c.250-28C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay|5/6|n.*218-28C>T|||||| 22 50956174 . T C . . ANN=C|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|5/20|c.356T>C|p.Leu119Pro|434/1996|356/1821|119/606||,C|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|5/20|c.356T>C|p.Leu119Pro|478/2037|356/1818|119/605||,C|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding|5/9|c.356T>C|p.Leu119Pro|451/1388|356/900|119/299||,C|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|5/19|c.356T>C|p.Leu119Pro|450/2077|356/1770|119/589||,C|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding|4/10|c.254T>C|p.Leu85Pro|346/970|254/878|85/291||WARNING_TRANSCRIPT_INCOMPLETE,C|3_prime_UTR_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay|5/7|n.*222T>C|||||1273|,C|3_prime_UTR_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay|6/7|n.*222T>C|||||1273|,C|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.-1T>C|||||1802|,C|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.-1T>C|||||2665|,C|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3T>C|||||4780|,C|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay|5/7|n.*222T>C||||||,C|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay|6/7|n.*222T>C|||||| 22 50956237 . G A . . ANN=A|missense_variant&splice_region_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|5/20|c.419G>A|p.Ser140Asn|497/1996|419/1821|140/606||,A|missense_variant&splice_region_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|5/20|c.419G>A|p.Ser140Asn|541/2037|419/1818|140/605||,A|missense_variant&splice_region_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding|5/9|c.419G>A|p.Ser140Asn|514/1388|419/900|140/299||,A|missense_variant&splice_region_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|5/19|c.419G>A|p.Ser140Asn|513/2077|419/1770|140/589||,A|missense_variant&splice_region_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding|4/10|c.317G>A|p.Ser106Asn|409/970|317/878|106/291||WARNING_TRANSCRIPT_INCOMPLETE,A|splice_region_variant&non_coding_exon_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay|5/7|n.*285G>A||||||,A|splice_region_variant&non_coding_exon_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay|6/7|n.*285G>A||||||,A|3_prime_UTR_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay|5/7|n.*285G>A|||||1336|,A|3_prime_UTR_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay|6/7|n.*285G>A|||||1336|,A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.-1G>A|||||1739|,A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.-1G>A|||||2602|,A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3G>A|||||4717| 22 50956370 . G T . . ANN=T|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.-1G>T|||||1606|,T|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.-1G>T|||||2469|,T|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3G>T|||||4584|,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|5/19|c.421-32G>T||||||,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|5/19|c.421-32G>T||||||,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding|5/8|c.421-32G>T||||||,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|5/18|c.421-32G>T||||||,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay|5/6|n.*287-32G>T||||||,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding|4/9|c.319-32G>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay|6/6|n.*287-32G>T|||||| 22 50956386 . C A,G,T . . ANN=A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.-1C>A|||||1590|,G|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.-1C>G|||||1590|,T|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.-1C>T|||||1590|,A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.-1C>A|||||2453|,G|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.-1C>G|||||2453|,T|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.-1C>T|||||2453|,A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3C>A|||||4568|,G|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3C>G|||||4568|,T|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3C>T|||||4568|,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|5/19|c.421-16C>A||||||,G|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|5/19|c.421-16C>G||||||,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|5/19|c.421-16C>T||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|5/19|c.421-16C>A||||||,G|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|5/19|c.421-16C>G||||||,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|5/19|c.421-16C>T||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding|5/8|c.421-16C>A||||||,G|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding|5/8|c.421-16C>G||||||,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding|5/8|c.421-16C>T||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|5/18|c.421-16C>A||||||,G|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|5/18|c.421-16C>G||||||,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|5/18|c.421-16C>T||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay|5/6|n.*287-16C>A||||||,G|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay|5/6|n.*287-16C>G||||||,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay|5/6|n.*287-16C>T||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding|4/9|c.319-16C>A||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding|4/9|c.319-16C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding|4/9|c.319-16C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay|6/6|n.*287-16C>A||||||,G|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay|6/6|n.*287-16C>G||||||,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay|6/6|n.*287-16C>T|||||| 22 50956395 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|5/19|c.421-7C>T||||||,T|splice_region_variant&intron_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|5/19|c.421-7C>T||||||,T|splice_region_variant&intron_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding|5/8|c.421-7C>T||||||,T|splice_region_variant&intron_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|5/18|c.421-7C>T||||||,T|splice_region_variant&intron_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay|5/6|n.*287-7C>T||||||,T|splice_region_variant&intron_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding|4/9|c.319-7C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|splice_region_variant&intron_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay|6/6|n.*287-7C>T||||||,T|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.-1C>T|||||1581|,T|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.-1C>T|||||2444|,T|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3C>T|||||4559| 22 50956501 . G A . . ANN=A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.-1G>A|||||1475|,A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.-1G>A|||||2338|,A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3G>A|||||4453|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268G>A|||||14|,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|6/19|c.500+20G>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|6/19|c.500+20G>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding|6/8|c.500+20G>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|6/18|c.500+20G>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay|6/6|n.*366+20G>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding|5/9|c.398+20G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50956503 . C T . . ANN=T|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.-1C>T|||||1473|,T|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.-1C>T|||||2336|,T|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3C>T|||||4451|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268C>T|||||16|,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|6/19|c.500+22C>T||||||,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|6/19|c.500+22C>T||||||,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding|6/8|c.500+22C>T||||||,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|6/18|c.500+22C>T||||||,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay|6/6|n.*366+22C>T||||||,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding|5/9|c.398+22C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50956510 . G A . . ANN=A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.-1G>A|||||1466|,A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.-1G>A|||||2329|,A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3G>A|||||4444|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268G>A|||||23|,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|6/19|c.500+29G>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|6/19|c.500+29G>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding|6/8|c.500+29G>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|6/18|c.500+29G>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay|6/6|n.*366+29G>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding|5/9|c.398+29G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50956610 . G A . . ANN=A|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|7/20|c.549G>A|p.Thr183Thr|627/1996|549/1821|183/606||,A|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|7/20|c.549G>A|p.Thr183Thr|671/2037|549/1818|183/605||,A|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding|7/9|c.549G>A|p.Thr183Thr|644/1388|549/900|183/299||,A|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|7/19|c.549G>A|p.Thr183Thr|643/2077|549/1770|183/589||,A|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding|6/10|c.447G>A|p.Thr149Thr|539/970|447/878|149/291||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay|7/7|n.*415G>A|||||1709|,A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.-1G>A|||||1366|,A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.-1G>A|||||2229|,A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3G>A|||||4344|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268G>A|||||123|,A|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay|7/7|n.*415G>A|||||| 22 50956614 . G A . . ANN=A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|7/20|c.553G>A|p.Val185Ile|631/1996|553/1821|185/606||,A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|7/20|c.553G>A|p.Val185Ile|675/2037|553/1818|185/605||,A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding|7/9|c.553G>A|p.Val185Ile|648/1388|553/900|185/299||,A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|7/19|c.553G>A|p.Val185Ile|647/2077|553/1770|185/589||,A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding|6/10|c.451G>A|p.Val151Ile|543/970|451/878|151/291||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay|7/7|n.*419G>A|||||1713|,A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.-1G>A|||||1362|,A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.-1G>A|||||2225|,A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3G>A|||||4340|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268G>A|||||127|,A|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay|7/7|n.*419G>A|||||| 22 50956676 . G A . . ANN=A|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|7/20|c.615G>A|p.Ala205Ala|693/1996|615/1821|205/606||,A|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|7/20|c.615G>A|p.Ala205Ala|737/2037|615/1818|205/605||,A|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding|7/9|c.615G>A|p.Ala205Ala|710/1388|615/900|205/299||,A|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|7/19|c.615G>A|p.Ala205Ala|709/2077|615/1770|205/589||,A|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding|6/10|c.513G>A|p.Ala171Ala|605/970|513/878|171/291||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay|7/7|n.*481G>A|||||1775|,A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.-1G>A|||||1300|,A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.-1G>A|||||2163|,A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3G>A|||||4278|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268G>A|||||189|,A|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay|7/7|n.*481G>A|||||| 22 50956723 . C T . . ANN=T|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.-1C>T|||||1253|,T|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.-1C>T|||||2116|,T|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3C>T|||||4231|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210C>T|||||18|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268C>T|||||236|,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|7/19|c.646+16C>T||||||,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|7/19|c.646+16C>T||||||,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding|7/8|c.646+16C>T||||||,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|7/18|c.646+16C>T||||||,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding|6/9|c.544+16C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50956724 . G A . . ANN=A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.-1G>A|||||1252|,A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.-1G>A|||||2115|,A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3G>A|||||4230|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210G>A|||||19|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268G>A|||||237|,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|7/19|c.646+17G>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|7/19|c.646+17G>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding|7/8|c.646+17G>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|7/18|c.646+17G>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding|6/9|c.544+17G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50956742 . GA G . . ANN=|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.-1delA|||||1233|,|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.-1delA|||||2096|,|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3delA|||||4211|,|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210delA|||||38|,|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268delA|||||256|,|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|7/19|c.646+37delA||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|7/19|c.646+37delA||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding|7/8|c.646+37delA||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|7/18|c.646+37delA||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding|6/9|c.544+37delA||||||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME 22 50957115 . C T . . ANN=T|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|8/20|c.684C>T|p.Ser228Ser|762/1996|684/1821|228/606||,T|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|8/20|c.684C>T|p.Ser228Ser|806/2037|684/1818|228/605||,T|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding|8/9|c.684C>T|p.Ser228Ser|779/1388|684/900|228/299||,T|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|8/19|c.684C>T|p.Ser228Ser|778/2077|684/1770|228/589||,T|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding|7/10|c.582C>T|p.Ser194Ser|674/970|582/878|194/291||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.-1C>T|||||861|,T|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.-1C>T|||||1724|,T|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3C>T|||||3839|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977G>A|||||4910|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210C>T|||||410|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268C>T|||||628|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949G>A|||||4882|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959G>A|||||4882|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008G>A|||||4882| 22 50957143 . G A . . ANN=A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|8/20|c.712G>A|p.Gly238Ser|790/1996|712/1821|238/606||,A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|8/20|c.712G>A|p.Gly238Ser|834/2037|712/1818|238/605||,A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding|8/9|c.712G>A|p.Gly238Ser|807/1388|712/900|238/299||,A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|8/19|c.712G>A|p.Gly238Ser|806/2077|712/1770|238/589||,A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding|7/10|c.610G>A|p.Gly204Ser|702/970|610/878|204/291||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.-1G>A|||||833|,A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.-1G>A|||||1696|,A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3G>A|||||3811|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977C>T|||||4882|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210G>A|||||438|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268G>A|||||656|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949C>T|||||4854|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959C>T|||||4854|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008C>T|||||4854| 22 50957150 . C G . . ANN=G|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|8/20|c.719C>G|p.Ser240Cys|797/1996|719/1821|240/606||,G|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|8/20|c.719C>G|p.Ser240Cys|841/2037|719/1818|240/605||,G|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding|8/9|c.719C>G|p.Ser240Cys|814/1388|719/900|240/299||,G|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|8/19|c.719C>G|p.Ser240Cys|813/2077|719/1770|240/589||,G|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding|7/10|c.617C>G|p.Ser206Cys|709/970|617/878|206/291||WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.-1C>G|||||826|,G|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.-1C>G|||||1689|,G|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3C>G|||||3804|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977G>C|||||4875|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210C>G|||||445|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268C>G|||||663|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949G>C|||||4847|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959G>C|||||4847|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008G>C|||||4847| 22 50957180 . G A . . ANN=A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.-1G>A|||||796|,A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.-1G>A|||||1659|,A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3G>A|||||3774|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977C>T|||||4845|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210G>A|||||475|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268G>A|||||693|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949C>T|||||4817|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959C>T|||||4817|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008C>T|||||4817|,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|8/19|c.730+19G>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|8/19|c.730+19G>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding|8/8|c.730+19G>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|8/18|c.730+19G>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding|7/9|c.628+19G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50957183 . G A . . ANN=A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.-1G>A|||||793|,A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.-1G>A|||||1656|,A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3G>A|||||3771|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977C>T|||||4842|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210G>A|||||478|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268G>A|||||696|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949C>T|||||4814|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959C>T|||||4814|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008C>T|||||4814|,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|8/19|c.730+22G>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|8/19|c.730+22G>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding|8/8|c.730+22G>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|8/18|c.730+22G>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding|7/9|c.628+22G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50957598 . A G . . ANN=G|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1A>G|||||4757|,G|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.-1A>G|||||378|,G|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.-1A>G|||||1241|,G|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3A>G|||||3356|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977T>C|||||4427|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210A>G|||||893|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268A>G|||||1111|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949T>C|||||4399|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959T>C|||||4399|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008T>C|||||4399|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568T>C|||||4833|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617T>C|||||4833|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|8/19|c.731-21A>G||||||,G|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|8/19|c.731-21A>G||||||,G|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding|8/8|c.731-21A>G||||||,G|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|8/18|c.731-21A>G||||||,G|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding|7/9|c.629-21A>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50957625 . C G . . ANN=G|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|9/20|c.737C>G|p.Ser246Cys|815/1996|737/1821|246/606||,G|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|9/20|c.737C>G|p.Ser246Cys|859/2037|737/1818|246/605||,G|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding|9/9|c.737C>G|p.Ser246Cys|832/1388|737/900|246/299||,G|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|9/19|c.737C>G|p.Ser246Cys|831/2077|737/1770|246/589||,G|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding|8/10|c.635C>G|p.Ser212Cys|727/970|635/878|212/291||WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1C>G|||||4730|,G|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.-1C>G|||||351|,G|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.-1C>G|||||1214|,G|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3C>G|||||3329|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977G>C|||||4400|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210C>G|||||920|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268C>G|||||1138|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949G>C|||||4372|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959G>C|||||4372|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008G>C|||||4372|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568G>C|||||4806|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617G>C|||||4806|WARNING_TRANSCRIPT_INCOMPLETE 22 50957701 . G A . . ANN=A|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|9/20|c.813G>A|p.Ser271Ser|891/1996|813/1821|271/606||,A|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|9/20|c.813G>A|p.Ser271Ser|935/2037|813/1818|271/605||,A|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding|9/9|c.813G>A|p.Ser271Ser|908/1388|813/900|271/299||,A|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|9/19|c.813G>A|p.Ser271Ser|907/2077|813/1770|271/589||,A|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding|8/10|c.711G>A|p.Ser237Ser|803/970|711/878|237/291||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1G>A|||||4654|,A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.-1G>A|||||275|,A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.-1G>A|||||1138|,A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3G>A|||||3253|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977C>T|||||4324|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210G>A|||||996|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268G>A|||||1214|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949C>T|||||4296|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959C>T|||||4296|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008C>T|||||4296|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568C>T|||||4730|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617C>T|||||4730|WARNING_TRANSCRIPT_INCOMPLETE 22 50957733 . C T . . ANN=T|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|9/20|c.845C>T|p.Ser282Phe|923/1996|845/1821|282/606||,T|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|9/20|c.845C>T|p.Ser282Phe|967/2037|845/1818|282/605||,T|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding|9/9|c.845C>T|p.Ser282Phe|940/1388|845/900|282/299||,T|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|9/19|c.845C>T|p.Ser282Phe|939/2077|845/1770|282/589||,T|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding|8/10|c.743C>T|p.Ser248Phe|835/970|743/878|248/291||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|MODERATE|NCAPH2|ENSG00000025770|amino_acid_modification:Phosphoserine|ENST00000299821|protein_coding|9/20|c.845C>T||||||,T|sequence_feature|MODERATE|NCAPH2|ENSG00000025770|amino_acid_modification:Phosphoserine|ENST00000420993|protein_coding|9/20|c.845C>T||||||,T|sequence_feature|MODERATE|NCAPH2|ENSG00000025770|amino_acid_modification:Phosphoserine|ENST00000395698|protein_coding|9/9|c.845C>T||||||,T|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1C>T|||||4622|,T|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.-1C>T|||||243|,T|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.-1C>T|||||1106|,T|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3C>T|||||3221|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977G>A|||||4292|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210C>T|||||1028|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268C>T|||||1246|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949G>A|||||4264|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959G>A|||||4264|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008G>A|||||4264|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568G>A|||||4698|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617G>A|||||4698|WARNING_TRANSCRIPT_INCOMPLETE 22 50957827 . A G . . ANN=G|3_prime_UTR_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding|9/9|c.*39A>G|||||39|,G|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1A>G|||||4528|,G|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.-1A>G|||||149|,G|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.-1A>G|||||1012|,G|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3A>G|||||3127|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977T>C|||||4198|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210A>G|||||1122|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268A>G|||||1340|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949T>C|||||4170|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959T>C|||||4170|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008T>C|||||4170|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568T>C|||||4604|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617T>C|||||4604|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|9/19|c.861+78A>G||||||,G|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|9/19|c.861+78A>G||||||,G|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|9/18|c.861+78A>G||||||,G|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding|8/9|c.759+78A>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50959456 . C G . . ANN=G|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|10/20|c.924C>G|p.Ser308Ser|1002/1996|924/1821|308/606||,G|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|10/20|c.924C>G|p.Ser308Ser|1046/2037|924/1818|308/605||,G|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|10/19|c.924C>G|p.Ser308Ser|1018/2077|924/1770|308/589||,G|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding|9/10|c.822C>G|p.Ser274Ser|914/970|822/878|274/291||WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1C>G|||||2899|,G|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3C>G|||||1498|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977G>C|||||2569|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586G>C|||||4725|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995C>G|||||1275|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210C>G|||||2751|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268C>G|||||2969|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949G>C|||||2541|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959G>C|||||2541|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008G>C|||||2541|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568G>C|||||2975|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617G>C|||||2975|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590G>C|||||4725|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612G>C|||||4725|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751G>C|||||4728|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600G>C|||||4729|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572G>C|||||4730|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432G>C|||||4758|WARNING_TRANSCRIPT_NO_STOP_CODON,G|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript|2/7|n.154C>G||||||,G|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron|1/7|n.618C>G|||||| 22 50959478 . G A . . ANN=A|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1G>A|||||2877|,A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3G>A|||||1476|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977C>T|||||2547|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586C>T|||||4703|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995G>A|||||1297|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210G>A|||||2773|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268G>A|||||2991|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949C>T|||||2519|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959C>T|||||2519|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008C>T|||||2519|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568C>T|||||2953|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617C>T|||||2953|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590C>T|||||4703|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612C>T|||||4703|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751C>T|||||4706|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600C>T|||||4707|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572C>T|||||4708|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432C>T|||||4736|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|10/19|c.933+13G>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|10/19|c.933+13G>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|10/18|c.933+13G>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding|9/9|c.831+13G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript|2/6|n.163+13G>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron|1/6|n.627+13G>A|||||| 22 50959949 . G A . . ANN=A|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1G>A|||||2406|,A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3G>A|||||1005|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977C>T|||||2076|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586C>T|||||4232|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995G>A|||||1768|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210G>A|||||3244|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268G>A|||||3462|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949C>T|||||2048|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959C>T|||||2048|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008C>T|||||2048|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568C>T|||||2482|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617C>T|||||2482|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590C>T|||||4232|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612C>T|||||4232|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751C>T|||||4235|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600C>T|||||4236|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572C>T|||||4237|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432C>T|||||4265|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|10/19|c.934-23G>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|10/19|c.934-23G>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|10/18|c.934-23G>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding|9/9|c.832-23G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript|2/6|n.164-23G>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron|1/6|n.628-23G>A|||||| 22 50960010 . C T . . ANN=T|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|11/20|c.972C>T|p.Asp324Asp|1050/1996|972/1821|324/606||,T|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|11/20|c.972C>T|p.Asp324Asp|1094/2037|972/1818|324/605||,T|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|11/19|c.972C>T|p.Asp324Asp|1066/2077|972/1770|324/589||,T|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding|10/10|c.870C>T|p.Asp290Asp|962/970|870/878|290/291||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1C>T|||||2345|,T|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3C>T|||||944|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977G>A|||||2015|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586G>A|||||4171|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995C>T|||||1829|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210C>T|||||3305|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268C>T|||||3523|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949G>A|||||1987|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959G>A|||||1987|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008G>A|||||1987|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568G>A|||||2421|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617G>A|||||2421|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590G>A|||||4171|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612G>A|||||4171|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751G>A|||||4174|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600G>A|||||4175|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572G>A|||||4176|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432G>A|||||4204|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript|3/7|n.202C>T||||||,T|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron|2/7|n.666C>T|||||| 22 50960125 . C T . . ANN=T|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1C>T|||||2230|,T|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3C>T|||||829|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977G>A|||||1900|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586G>A|||||4056|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995C>T|||||1944|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210C>T|||||3420|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970C>T|||||107|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268C>T|||||3638|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949G>A|||||1872|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959G>A|||||1872|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008G>A|||||1872|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568G>A|||||2306|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617G>A|||||2306|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590G>A|||||4056|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612G>A|||||4056|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751G>A|||||4059|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600G>A|||||4060|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572G>A|||||4061|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432G>A|||||4089|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|11/19|c.1001-45C>T||||||,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|11/19|c.1001-45C>T||||||,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|11/18|c.1001-45C>T||||||,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript|3/6|n.231-45C>T||||||,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron|2/6|n.695-45C>T|||||| 22 50960172 . A G . . ANN=G|missense_variant&splice_region_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|12/20|c.1003A>G|p.Arg335Gly|1081/1996|1003/1821|335/606||,G|missense_variant&splice_region_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|12/20|c.1003A>G|p.Arg335Gly|1125/2037|1003/1818|335/605||,G|missense_variant&splice_region_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|12/19|c.1003A>G|p.Arg335Gly|1097/2077|1003/1770|335/589||,G|splice_region_variant&non_coding_exon_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript|4/7|n.233A>G||||||,G|splice_region_variant&non_coding_exon_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron|3/7|n.697A>G||||||,G|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1A>G|||||2183|,G|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3A>G|||||782|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977T>C|||||1853|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586T>C|||||4009|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995A>G|||||1991|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210A>G|||||3467|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970A>G|||||154|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268A>G|||||3685|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949T>C|||||1825|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959T>C|||||1825|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008T>C|||||1825|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568T>C|||||2259|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617T>C|||||2259|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590T>C|||||4009|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612T>C|||||4009|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751T>C|||||4012|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600T>C|||||4013|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572T>C|||||4014|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432T>C|||||4042|WARNING_TRANSCRIPT_NO_STOP_CODON 22 50960191 . C G . . ANN=G|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|12/20|c.1022C>G|p.Pro341Arg|1100/1996|1022/1821|341/606||,G|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|12/20|c.1022C>G|p.Pro341Arg|1144/2037|1022/1818|341/605||,G|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|12/19|c.1022C>G|p.Pro341Arg|1116/2077|1022/1770|341/589||,G|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1C>G|||||2164|,G|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3C>G|||||763|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977G>C|||||1834|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586G>C|||||3990|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995C>G|||||2010|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210C>G|||||3486|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970C>G|||||173|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268C>G|||||3704|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949G>C|||||1806|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959G>C|||||1806|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008G>C|||||1806|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568G>C|||||2240|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617G>C|||||2240|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590G>C|||||3990|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612G>C|||||3990|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751G>C|||||3993|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600G>C|||||3994|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572G>C|||||3995|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432G>C|||||4023|WARNING_TRANSCRIPT_NO_STOP_CODON,G|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript|4/7|n.252C>G||||||,G|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron|3/7|n.716C>G|||||| 22 50960220 . C T . . ANN=T|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|12/20|c.1051C>T|p.Arg351Cys|1129/1996|1051/1821|351/606||,T|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|12/20|c.1051C>T|p.Arg351Cys|1173/2037|1051/1818|351/605||,T|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|12/19|c.1051C>T|p.Arg351Cys|1145/2077|1051/1770|351/589||,T|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1C>T|||||2135|,T|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3C>T|||||734|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977G>A|||||1805|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586G>A|||||3961|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995C>T|||||2039|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210C>T|||||3515|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970C>T|||||202|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268C>T|||||3733|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949G>A|||||1777|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959G>A|||||1777|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008G>A|||||1777|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568G>A|||||2211|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617G>A|||||2211|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590G>A|||||3961|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612G>A|||||3961|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751G>A|||||3964|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600G>A|||||3965|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572G>A|||||3966|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432G>A|||||3994|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript|4/7|n.281C>T||||||,T|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron|3/7|n.745C>T|||||| 22 50960235 . G A . . ANN=A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|12/20|c.1066G>A|p.Ala356Thr|1144/1996|1066/1821|356/606||,A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|12/20|c.1066G>A|p.Ala356Thr|1188/2037|1066/1818|356/605||,A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|12/19|c.1066G>A|p.Ala356Thr|1160/2077|1066/1770|356/589||,A|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1G>A|||||2120|,A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3G>A|||||719|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977C>T|||||1790|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586C>T|||||3946|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995G>A|||||2054|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210G>A|||||3530|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970G>A|||||217|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268G>A|||||3748|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949C>T|||||1762|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959C>T|||||1762|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008C>T|||||1762|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568C>T|||||2196|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617C>T|||||2196|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590C>T|||||3946|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612C>T|||||3946|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751C>T|||||3949|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600C>T|||||3950|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572C>T|||||3951|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432C>T|||||3979|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript|4/7|n.296G>A||||||,A|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron|3/7|n.760G>A|||||| 22 50960270 . G A . . ANN=A|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|12/20|c.1101G>A|p.Leu367Leu|1179/1996|1101/1821|367/606||,A|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|12/20|c.1101G>A|p.Leu367Leu|1223/2037|1101/1818|367/605||,A|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|12/19|c.1101G>A|p.Leu367Leu|1195/2077|1101/1770|367/589||,A|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1G>A|||||2085|,A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3G>A|||||684|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977C>T|||||1755|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586C>T|||||3911|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995G>A|||||2089|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210G>A|||||3565|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970G>A|||||252|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268G>A|||||3783|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949C>T|||||1727|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959C>T|||||1727|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008C>T|||||1727|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568C>T|||||2161|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617C>T|||||2161|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590C>T|||||3911|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612C>T|||||3911|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751C>T|||||3914|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600C>T|||||3915|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572C>T|||||3916|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432C>T|||||3944|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript|4/7|n.331G>A||||||,A|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron|3/7|n.795G>A|||||| 22 50960302 . G A . . ANN=A|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1G>A|||||2053|,A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3G>A|||||652|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977C>T|||||1723|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586C>T|||||3879|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995G>A|||||2121|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210G>A|||||3597|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970G>A|||||284|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268G>A|||||3815|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949C>T|||||1695|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959C>T|||||1695|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008C>T|||||1695|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568C>T|||||2129|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617C>T|||||2129|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590C>T|||||3879|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612C>T|||||3879|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751C>T|||||3882|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600C>T|||||3883|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572C>T|||||3884|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432C>T|||||3912|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|12/19|c.1108+25G>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|12/19|c.1108+25G>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|12/18|c.1108+25G>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript|4/6|n.338+25G>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron|3/6|n.802+25G>A|||||| 22 50960316 . T TG . . ANN=G|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1_-1insG|||||2038|,G|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3_-3insG|||||637|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977dupC|||||1708|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586dupC|||||3864|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995_*995insG|||||2136|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210_*210insG|||||3612|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970_*970insG|||||299|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268_*268insG|||||3830|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949dupC|||||1680|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959dupC|||||1680|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008dupC|||||1680|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568dupC|||||2114|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617dupC|||||2114|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590dupC|||||3864|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612dupC|||||3864|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751dupC|||||3867|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600dupC|||||3868|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572dupC|||||3869|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432dupC|||||3897|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|12/19|c.1108+44dupG||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|12/19|c.1108+44dupG||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|12/18|c.1108+44dupG||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript|4/6|n.338+44dupG||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron|3/6|n.802+44dupG||||||INFO_REALIGN_3_PRIME 22 50960428 . C T . . ANN=T|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|13/20|c.1122C>T|p.Ala374Ala|1200/1996|1122/1821|374/606||,T|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|13/20|c.1122C>T|p.Ala374Ala|1244/2037|1122/1818|374/605||,T|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|13/19|c.1122C>T|p.Ala374Ala|1216/2077|1122/1770|374/589||,T|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1C>T|||||1927|,T|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3C>T|||||526|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977G>A|||||1597|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586G>A|||||3753|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995C>T|||||2247|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210C>T|||||3723|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970C>T|||||410|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268C>T|||||3941|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949G>A|||||1569|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959G>A|||||1569|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008G>A|||||1569|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568G>A|||||2003|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617G>A|||||2003|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590G>A|||||3753|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612G>A|||||3753|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751G>A|||||3756|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600G>A|||||3757|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572G>A|||||3758|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432G>A|||||3786|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript|5/7|n.352C>T||||||,T|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron|4/7|n.816C>T|||||| 22 50960434 . C G . . ANN=G|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|13/20|c.1128C>G|p.Ser376Arg|1206/1996|1128/1821|376/606||,G|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|13/20|c.1128C>G|p.Ser376Arg|1250/2037|1128/1818|376/605||,G|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|13/19|c.1128C>G|p.Ser376Arg|1222/2077|1128/1770|376/589||,G|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1C>G|||||1921|,G|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3C>G|||||520|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977G>C|||||1591|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586G>C|||||3747|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995C>G|||||2253|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210C>G|||||3729|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970C>G|||||416|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268C>G|||||3947|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949G>C|||||1563|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959G>C|||||1563|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008G>C|||||1563|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568G>C|||||1997|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617G>C|||||1997|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590G>C|||||3747|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612G>C|||||3747|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751G>C|||||3750|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600G>C|||||3751|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572G>C|||||3752|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432G>C|||||3780|WARNING_TRANSCRIPT_NO_STOP_CODON,G|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript|5/7|n.358C>G||||||,G|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron|4/7|n.822C>G|||||| 22 50960439 . G A . . ANN=A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|13/20|c.1133G>A|p.Arg378Gln|1211/1996|1133/1821|378/606||,A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|13/20|c.1133G>A|p.Arg378Gln|1255/2037|1133/1818|378/605||,A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|13/19|c.1133G>A|p.Arg378Gln|1227/2077|1133/1770|378/589||,A|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1G>A|||||1916|,A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3G>A|||||515|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977C>T|||||1586|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586C>T|||||3742|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995G>A|||||2258|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210G>A|||||3734|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970G>A|||||421|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268G>A|||||3952|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949C>T|||||1558|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959C>T|||||1558|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008C>T|||||1558|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568C>T|||||1992|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617C>T|||||1992|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590C>T|||||3742|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612C>T|||||3742|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751C>T|||||3745|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600C>T|||||3746|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572C>T|||||3747|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432C>T|||||3775|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript|5/7|n.363G>A||||||,A|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron|4/7|n.827G>A|||||| 22 50960445 . G A . . ANN=A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|13/20|c.1139G>A|p.Arg380Gln|1217/1996|1139/1821|380/606||,A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|13/20|c.1139G>A|p.Arg380Gln|1261/2037|1139/1818|380/605||,A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|13/19|c.1139G>A|p.Arg380Gln|1233/2077|1139/1770|380/589||,A|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1G>A|||||1910|,A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3G>A|||||509|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977C>T|||||1580|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586C>T|||||3736|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995G>A|||||2264|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210G>A|||||3740|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970G>A|||||427|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268G>A|||||3958|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949C>T|||||1552|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959C>T|||||1552|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008C>T|||||1552|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568C>T|||||1986|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617C>T|||||1986|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590C>T|||||3736|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612C>T|||||3736|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751C>T|||||3739|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600C>T|||||3740|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572C>T|||||3741|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432C>T|||||3769|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript|5/7|n.369G>A||||||,A|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron|4/7|n.833G>A|||||| 22 50960682 . C T . . ANN=T|splice_donor_variant&intron_variant|HIGH|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|14/19|c.1233+2C>T||||||,T|splice_donor_variant&intron_variant|HIGH|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|14/19|c.1233+2C>T||||||,T|splice_donor_variant&intron_variant|HIGH|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|14/18|c.1233+2C>T||||||,T|splice_donor_variant&intron_variant|HIGH|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript|6/6|n.463+2C>T||||||,T|splice_donor_variant&intron_variant|HIGH|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron|5/6|n.927+2C>T||||||,T|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1C>T|||||1673|,T|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3C>T|||||272|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977G>A|||||1343|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586G>A|||||3499|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995C>T|||||2501|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210C>T|||||3977|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970C>T|||||664|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268C>T|||||4195|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949G>A|||||1315|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959G>A|||||1315|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008G>A|||||1315|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568G>A|||||1749|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617G>A|||||1749|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590G>A|||||3499|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612G>A|||||3499|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751G>A|||||3502|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600G>A|||||3503|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572G>A|||||3504|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432G>A|||||3532|WARNING_TRANSCRIPT_NO_STOP_CODON;LOF=(NCAPH2|ENSG00000025770|10|0.30) 22 50960694 . G C . . ANN=C|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1G>C|||||1661|,C|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3G>C|||||260|,C|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977C>G|||||1331|,C|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586C>G|||||3487|,C|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995G>C|||||2513|,C|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210G>C|||||3989|,C|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970G>C|||||676|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268G>C|||||4207|,C|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949C>G|||||1303|,C|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959C>G|||||1303|,C|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008C>G|||||1303|,C|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568C>G|||||1737|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617C>G|||||1737|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590C>G|||||3487|,C|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612C>G|||||3487|,C|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751C>G|||||3490|,C|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600C>G|||||3491|,C|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572C>G|||||3492|,C|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432C>G|||||3520|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|14/19|c.1233+14G>C||||||,C|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|14/19|c.1233+14G>C||||||,C|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|14/18|c.1233+14G>C||||||,C|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript|6/6|n.463+14G>C||||||,C|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron|5/6|n.927+14G>C|||||| 22 50960769 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|14/19|c.1234-3C>T||||||,T|splice_region_variant&intron_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|14/19|c.1234-3C>T||||||,T|splice_region_variant&intron_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|14/18|c.1234-3C>T||||||,T|splice_region_variant&intron_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript|6/6|n.464-3C>T||||||,T|splice_region_variant&intron_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron|5/6|n.928-3C>T||||||,T|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1C>T|||||1586|,T|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3C>T|||||185|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977G>A|||||1256|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586G>A|||||3412|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995C>T|||||2588|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210C>T|||||4064|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970C>T|||||751|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268C>T|||||4282|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949G>A|||||1228|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959G>A|||||1228|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008G>A|||||1228|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568G>A|||||1662|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617G>A|||||1662|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590G>A|||||3412|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612G>A|||||3412|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751G>A|||||3415|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600G>A|||||3416|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572G>A|||||3417|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432G>A|||||3445|WARNING_TRANSCRIPT_NO_STOP_CODON 22 50960790 . C A . . ANN=A|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|15/20|c.1252C>A|p.Arg418Arg|1330/1996|1252/1821|418/606||,A|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|15/20|c.1252C>A|p.Arg418Arg|1374/2037|1252/1818|418/605||,A|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|15/19|c.1252C>A|p.Arg418Arg|1346/2077|1252/1770|418/589||,A|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1C>A|||||1565|,A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3C>A|||||164|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977G>T|||||1235|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586G>T|||||3391|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995C>A|||||2609|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210C>A|||||4085|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970C>A|||||772|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268C>A|||||4303|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949G>T|||||1207|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959G>T|||||1207|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008G>T|||||1207|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568G>T|||||1641|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617G>T|||||1641|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590G>T|||||3391|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612G>T|||||3391|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751G>T|||||3394|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600G>T|||||3395|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572G>T|||||3396|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432G>T|||||3424|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript|7/7|n.482C>A||||||,A|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron|6/7|n.946C>A|||||| 22 50960791 . G A . . ANN=A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|15/20|c.1253G>A|p.Arg418Gln|1331/1996|1253/1821|418/606||,A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|15/20|c.1253G>A|p.Arg418Gln|1375/2037|1253/1818|418/605||,A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|15/19|c.1253G>A|p.Arg418Gln|1347/2077|1253/1770|418/589||,A|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1G>A|||||1564|,A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3G>A|||||163|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977C>T|||||1234|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586C>T|||||3390|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995G>A|||||2610|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210G>A|||||4086|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970G>A|||||773|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268G>A|||||4304|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949C>T|||||1206|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959C>T|||||1206|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008C>T|||||1206|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568C>T|||||1640|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617C>T|||||1640|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590C>T|||||3390|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612C>T|||||3390|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751C>T|||||3393|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600C>T|||||3394|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572C>T|||||3395|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432C>T|||||3423|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript|7/7|n.483G>A||||||,A|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron|6/7|n.947G>A|||||| 22 50960792 . G A . . ANN=A|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|15/20|c.1254G>A|p.Arg418Arg|1332/1996|1254/1821|418/606||,A|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|15/20|c.1254G>A|p.Arg418Arg|1376/2037|1254/1818|418/605||,A|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|15/19|c.1254G>A|p.Arg418Arg|1348/2077|1254/1770|418/589||,A|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1G>A|||||1563|,A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3G>A|||||162|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977C>T|||||1233|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586C>T|||||3389|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995G>A|||||2611|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210G>A|||||4087|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970G>A|||||774|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268G>A|||||4305|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949C>T|||||1205|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959C>T|||||1205|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008C>T|||||1205|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568C>T|||||1639|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617C>T|||||1639|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590C>T|||||3389|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612C>T|||||3389|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751C>T|||||3392|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600C>T|||||3393|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572C>T|||||3394|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432C>T|||||3422|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript|7/7|n.484G>A||||||,A|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron|6/7|n.948G>A|||||| 22 50960851 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|15/19|c.1306+7G>A||||||,A|splice_region_variant&intron_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|15/19|c.1306+7G>A||||||,A|splice_region_variant&intron_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|15/18|c.1306+7G>A||||||,A|splice_region_variant&intron_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron|6/6|n.1000+7G>A||||||,A|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1G>A|||||1504|,A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3G>A|||||103|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977C>T|||||1174|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586C>T|||||3330|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995G>A|||||2670|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210G>A|||||4146|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970G>A|||||833|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268G>A|||||4364|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539G>A|||||4|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949C>T|||||1146|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959C>T|||||1146|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008C>T|||||1146|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568C>T|||||1580|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617C>T|||||1580|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590C>T|||||3330|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612C>T|||||3330|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751C>T|||||3333|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600C>T|||||3334|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572C>T|||||3335|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432C>T|||||3363|WARNING_TRANSCRIPT_NO_STOP_CODON 22 50960852 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|15/19|c.1306+8C>T||||||,T|splice_region_variant&intron_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|15/19|c.1306+8C>T||||||,T|splice_region_variant&intron_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|15/18|c.1306+8C>T||||||,T|splice_region_variant&intron_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron|6/6|n.1000+8C>T||||||,T|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1C>T|||||1503|,T|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3C>T|||||102|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977G>A|||||1173|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586G>A|||||3329|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995C>T|||||2671|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210C>T|||||4147|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970C>T|||||834|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268C>T|||||4365|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539C>T|||||5|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949G>A|||||1145|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959G>A|||||1145|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008G>A|||||1145|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568G>A|||||1579|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617G>A|||||1579|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590G>A|||||3329|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612G>A|||||3329|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751G>A|||||3332|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600G>A|||||3333|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572G>A|||||3334|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432G>A|||||3362|WARNING_TRANSCRIPT_NO_STOP_CODON 22 50960965 . G A . . ANN=A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|16/20|c.1345G>A|p.Glu449Lys|1423/1996|1345/1821|449/606||,A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|16/20|c.1342G>A|p.Glu448Lys|1464/2037|1342/1818|448/605||,A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|16/19|c.1342G>A|p.Glu448Lys|1436/2077|1342/1770|448/589||,A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding|1/5|c.10G>A|p.Glu4Lys|12/521|10/423|4/140||,A|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1G>A|||||1390|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977C>T|||||1060|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586C>T|||||3216|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995G>A|||||2784|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210G>A|||||4260|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970G>A|||||947|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268G>A|||||4478|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539G>A|||||118|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949C>T|||||1032|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959C>T|||||1032|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008C>T|||||1032|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568C>T|||||1466|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617C>T|||||1466|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590C>T|||||3216|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612C>T|||||3216|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751C>T|||||3219|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600C>T|||||3220|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572C>T|||||3221|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432C>T|||||3249|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron|7/7|n.1036G>A|||||| 22 50960988 . C T . . ANN=T|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|16/20|c.1368C>T|p.Ala456Ala|1446/1996|1368/1821|456/606||,T|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|16/20|c.1365C>T|p.Ala455Ala|1487/2037|1365/1818|455/605||,T|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|16/19|c.1365C>T|p.Ala455Ala|1459/2077|1365/1770|455/589||,T|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding|1/5|c.33C>T|p.Ala11Ala|35/521|33/423|11/140||,T|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1C>T|||||1367|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977G>A|||||1037|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586G>A|||||3193|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995C>T|||||2807|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210C>T|||||4283|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970C>T|||||970|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268C>T|||||4501|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539C>T|||||141|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949G>A|||||1009|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959G>A|||||1009|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008G>A|||||1009|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568G>A|||||1443|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617G>A|||||1443|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590G>A|||||3193|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612G>A|||||3193|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751G>A|||||3196|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600G>A|||||3197|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572G>A|||||3198|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432G>A|||||3226|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron|7/7|n.1059C>T|||||| 22 50960989 . G A . . ANN=A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|16/20|c.1369G>A|p.Ala457Thr|1447/1996|1369/1821|457/606||,A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|16/20|c.1366G>A|p.Ala456Thr|1488/2037|1366/1818|456/605||,A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|16/19|c.1366G>A|p.Ala456Thr|1460/2077|1366/1770|456/589||,A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding|1/5|c.34G>A|p.Ala12Thr|36/521|34/423|12/140||,A|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1G>A|||||1366|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977C>T|||||1036|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586C>T|||||3192|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995G>A|||||2808|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210G>A|||||4284|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970G>A|||||971|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268G>A|||||4502|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539G>A|||||142|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949C>T|||||1008|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959C>T|||||1008|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008C>T|||||1008|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568C>T|||||1442|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617C>T|||||1442|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590C>T|||||3192|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612C>T|||||3192|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751C>T|||||3195|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600C>T|||||3196|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572C>T|||||3197|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432C>T|||||3225|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron|7/7|n.1060G>A|||||| 22 50961020 . A T . . ANN=T|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1A>T|||||1335|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977T>A|||||1005|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586T>A|||||3161|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995A>T|||||2839|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210A>T|||||4315|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970A>T|||||1002|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268A>T|||||4533|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539A>T|||||173|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069A>T|||||22|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949T>A|||||977|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959T>A|||||977|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008T>A|||||977|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568T>A|||||1411|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617T>A|||||1411|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590T>A|||||3161|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612T>A|||||3161|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751T>A|||||3164|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600T>A|||||3165|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572T>A|||||3166|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432T>A|||||3194|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|16/19|c.1378+22A>T||||||,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|16/19|c.1375+22A>T||||||,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|16/18|c.1375+22A>T||||||,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding|1/4|c.43+22A>T|||||| 22 50961058 . C T . . ANN=T|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1C>T|||||1297|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977G>A|||||967|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586G>A|||||3123|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995C>T|||||2877|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210C>T|||||4353|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970C>T|||||1040|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268C>T|||||4571|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539C>T|||||211|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069C>T|||||60|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949G>A|||||939|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959G>A|||||939|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008G>A|||||939|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568G>A|||||1373|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617G>A|||||1373|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590G>A|||||3123|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612G>A|||||3123|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751G>A|||||3126|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600G>A|||||3127|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572G>A|||||3128|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432G>A|||||3156|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|16/19|c.1379-42C>T||||||,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|16/19|c.1376-42C>T||||||,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|16/18|c.1376-42C>T||||||,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding|1/4|c.44-42C>T|||||| 22 50961092 . C G . . ANN=G|splice_region_variant&intron_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|16/19|c.1379-8C>G||||||,G|splice_region_variant&intron_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|16/19|c.1376-8C>G||||||,G|splice_region_variant&intron_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|16/18|c.1376-8C>G||||||,G|splice_region_variant&intron_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding|1/4|c.44-8C>G||||||,G|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1C>G|||||1263|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977G>C|||||933|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586G>C|||||3089|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995C>G|||||2911|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210C>G|||||4387|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970C>G|||||1074|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268C>G|||||4605|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539C>G|||||245|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069C>G|||||94|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949G>C|||||905|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959G>C|||||905|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008G>C|||||905|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568G>C|||||1339|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617G>C|||||1339|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590G>C|||||3089|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612G>C|||||3089|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751G>C|||||3092|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600G>C|||||3093|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572G>C|||||3094|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432G>C|||||3122|WARNING_TRANSCRIPT_NO_STOP_CODON 22 50961134 . G C . . ANN=C|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|17/20|c.1413G>C|p.Leu471Leu|1491/1996|1413/1821|471/606||,C|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|17/20|c.1410G>C|p.Leu470Leu|1532/2037|1410/1818|470/605||,C|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|17/19|c.1410G>C|p.Leu470Leu|1504/2077|1410/1770|470/589||,C|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding|2/5|c.78G>C|p.Leu26Leu|80/521|78/423|26/140||,C|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1G>C|||||1221|,C|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977C>G|||||891|,C|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586C>G|||||3047|,C|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995G>C|||||2953|,C|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210G>C|||||4429|,C|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970G>C|||||1116|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268G>C|||||4647|,C|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539G>C|||||287|,C|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069G>C|||||136|,C|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949C>G|||||863|,C|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959C>G|||||863|,C|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008C>G|||||863|,C|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568C>G|||||1297|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617C>G|||||1297|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590C>G|||||3047|,C|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612C>G|||||3047|,C|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751C>G|||||3050|,C|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600C>G|||||3051|,C|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572C>G|||||3052|,C|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432C>G|||||3080|WARNING_TRANSCRIPT_NO_STOP_CODON 22 50961169 . A G . . ANN=G|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1A>G|||||1186|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977T>C|||||856|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586T>C|||||3012|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995A>G|||||2988|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210A>G|||||4464|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970A>G|||||1151|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268A>G|||||4682|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539A>G|||||322|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069A>G|||||171|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949T>C|||||828|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959T>C|||||828|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008T>C|||||828|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568T>C|||||1262|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617T>C|||||1262|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590T>C|||||3012|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612T>C|||||3012|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751T>C|||||3015|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600T>C|||||3016|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572T>C|||||3017|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432T>C|||||3045|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|17/19|c.1428+20A>G||||||,G|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|17/19|c.1425+20A>G||||||,G|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|17/18|c.1425+20A>G||||||,G|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding|2/4|c.93+20A>G|||||| 22 50961173 . G A . . ANN=A|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1G>A|||||1182|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977C>T|||||852|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586C>T|||||3008|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995G>A|||||2992|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210G>A|||||4468|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970G>A|||||1155|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268G>A|||||4686|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539G>A|||||326|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069G>A|||||175|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949C>T|||||824|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959C>T|||||824|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008C>T|||||824|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568C>T|||||1258|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617C>T|||||1258|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590C>T|||||3008|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612C>T|||||3008|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751C>T|||||3011|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600C>T|||||3012|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572C>T|||||3013|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432C>T|||||3041|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|17/19|c.1428+24G>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|17/19|c.1425+24G>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|17/18|c.1425+24G>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding|2/4|c.93+24G>A|||||| 22 50961211 . C G . . ANN=G|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1C>G|||||1144|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977G>C|||||814|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586G>C|||||2970|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995C>G|||||3030|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210C>G|||||4506|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970C>G|||||1193|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268C>G|||||4724|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539C>G|||||364|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069C>G|||||213|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949G>C|||||786|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959G>C|||||786|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008G>C|||||786|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568G>C|||||1220|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617G>C|||||1220|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590G>C|||||2970|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612G>C|||||2970|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751G>C|||||2973|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600G>C|||||2974|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572G>C|||||2975|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432G>C|||||3003|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|17/19|c.1429-39C>G||||||,G|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|17/19|c.1426-39C>G||||||,G|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|17/18|c.1426-39C>G||||||,G|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding|2/4|c.94-39C>G|||||| 22 50961365 . G A . . ANN=A|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1G>A|||||990|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977C>T|||||660|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586C>T|||||2816|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995G>A|||||3184|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210G>A|||||4660|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970G>A|||||1347|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268G>A|||||4878|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539G>A|||||518|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069G>A|||||367|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949C>T|||||632|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959C>T|||||632|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008C>T|||||632|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568C>T|||||1066|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617C>T|||||1066|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590C>T|||||2816|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612C>T|||||2816|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751C>T|||||2819|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600C>T|||||2820|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572C>T|||||2821|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432C>T|||||2849|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049C>T|||||4856|,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|18/19|c.1530+14G>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|18/19|c.1527+14G>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|18/18|c.1527+14G>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding|3/4|c.195+14G>A|||||| 22 50961373 . C T . . ANN=T|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1C>T|||||982|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977G>A|||||652|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586G>A|||||2808|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995C>T|||||3192|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210C>T|||||4668|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970C>T|||||1355|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268C>T|||||4886|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539C>T|||||526|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069C>T|||||375|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949G>A|||||624|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959G>A|||||624|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008G>A|||||624|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568G>A|||||1058|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617G>A|||||1058|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590G>A|||||2808|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612G>A|||||2808|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751G>A|||||2811|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600G>A|||||2812|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572G>A|||||2813|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432G>A|||||2841|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049G>A|||||4848|,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|18/19|c.1530+22C>T||||||,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|18/19|c.1527+22C>T||||||,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|18/18|c.1527+22C>T||||||,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding|3/4|c.195+22C>T|||||| 22 50961387 . C A . . ANN=A|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1C>A|||||968|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977G>T|||||638|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586G>T|||||2794|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995C>A|||||3206|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210C>A|||||4682|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970C>A|||||1369|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268C>A|||||4900|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539C>A|||||540|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069C>A|||||389|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949G>T|||||610|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959G>T|||||610|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008G>T|||||610|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568G>T|||||1044|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617G>T|||||1044|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590G>T|||||2794|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612G>T|||||2794|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751G>T|||||2797|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600G>T|||||2798|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572G>T|||||2799|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432G>T|||||2827|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049G>T|||||4834|,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|18/19|c.1530+36C>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|18/19|c.1527+36C>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|18/18|c.1527+36C>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding|3/4|c.195+36C>A|||||| 22 50961418 . G T . . ANN=T|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1G>T|||||937|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977C>A|||||607|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586C>A|||||2763|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995G>T|||||3237|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210G>T|||||4713|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970G>T|||||1400|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268G>T|||||4931|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539G>T|||||571|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069G>T|||||420|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949C>A|||||579|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959C>A|||||579|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008C>A|||||579|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568C>A|||||1013|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617C>A|||||1013|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590C>A|||||2763|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612C>A|||||2763|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751C>A|||||2766|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600C>A|||||2767|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572C>A|||||2768|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432C>A|||||2796|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049C>A|||||4803|,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|18/19|c.1531-28G>T||||||,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|18/19|c.1528-28G>T||||||,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|18/18|c.1528-28G>T||||||,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding|3/4|c.195+67G>T|||||| 22 50961475 . C T . . ANN=T|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|19/20|c.1560C>T|p.Thr520Thr|1638/1996|1560/1821|520/606||,T|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|19/20|c.1557C>T|p.Thr519Thr|1679/2037|1557/1818|519/605||,T|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|19/19|c.1557C>T|p.Thr519Thr|1651/2077|1557/1770|519/589||,T|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1C>T|||||880|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977G>A|||||550|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586G>A|||||2706|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995C>T|||||3294|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210C>T|||||4770|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970C>T|||||1457|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268C>T|||||4988|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539C>T|||||628|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069C>T|||||477|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949G>A|||||522|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959G>A|||||522|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008G>A|||||522|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568G>A|||||956|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617G>A|||||956|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590G>A|||||2706|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612G>A|||||2706|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751G>A|||||2709|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600G>A|||||2710|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572G>A|||||2711|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432G>A|||||2739|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049G>A|||||4746|,T|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding|3/4|c.196-34C>T|||||| 22 50961503 . C T . . ANN=T|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|19/20|c.1588C>T|p.Pro530Ser|1666/1996|1588/1821|530/606||,T|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|19/20|c.1585C>T|p.Pro529Ser|1707/2037|1585/1818|529/605||,T|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|19/19|c.1585C>T|p.Pro529Ser|1679/2077|1585/1770|529/589||,T|splice_region_variant&intron_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding|3/4|c.196-6C>T||||||,T|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1C>T|||||852|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977G>A|||||522|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586G>A|||||2678|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995C>T|||||3322|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210C>T|||||4798|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970C>T|||||1485|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539C>T|||||656|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069C>T|||||505|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949G>A|||||494|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959G>A|||||494|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008G>A|||||494|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568G>A|||||928|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617G>A|||||928|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590G>A|||||2678|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612G>A|||||2678|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751G>A|||||2681|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600G>A|||||2682|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572G>A|||||2683|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432G>A|||||2711|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049G>A|||||4718| 22 50961521 . T C . . ANN=C|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|19/20|c.1606T>C|p.Cys536Arg|1684/1996|1606/1821|536/606||,C|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|19/20|c.1603T>C|p.Cys535Arg|1725/2037|1603/1818|535/605||,C|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|19/19|c.1603T>C|p.Cys535Arg|1697/2077|1603/1770|535/589||,C|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding|4/5|c.208T>C|p.Cys70Arg|210/521|208/423|70/140||,C|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1T>C|||||834|,C|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977A>G|||||504|,C|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586A>G|||||2660|,C|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995T>C|||||3340|,C|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210T>C|||||4816|,C|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970T>C|||||1503|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539T>C|||||674|,C|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069T>C|||||523|,C|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949A>G|||||476|,C|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959A>G|||||476|,C|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008A>G|||||476|,C|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568A>G|||||910|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617A>G|||||910|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590A>G|||||2660|,C|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612A>G|||||2660|,C|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751A>G|||||2663|,C|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600A>G|||||2664|,C|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572A>G|||||2665|,C|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432A>G|||||2693|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049A>G|||||4700| 22 50961536 . C T . . ANN=T|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|19/20|c.1621C>T|p.Leu541Leu|1699/1996|1621/1821|541/606||,T|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|19/20|c.1618C>T|p.Leu540Leu|1740/2037|1618/1818|540/605||,T|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|19/19|c.1618C>T|p.Leu540Leu|1712/2077|1618/1770|540/589||,T|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding|4/5|c.223C>T|p.Leu75Leu|225/521|223/423|75/140||,T|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1C>T|||||819|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977G>A|||||489|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586G>A|||||2645|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995C>T|||||3355|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210C>T|||||4831|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970C>T|||||1518|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539C>T|||||689|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069C>T|||||538|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949G>A|||||461|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959G>A|||||461|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008G>A|||||461|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568G>A|||||895|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617G>A|||||895|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590G>A|||||2645|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612G>A|||||2645|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751G>A|||||2648|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600G>A|||||2649|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572G>A|||||2650|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432G>A|||||2678|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049G>A|||||4685| 22 50961614 . G A . . ANN=A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|19/19|c.1696G>A|p.Val566Met|1790/2077|1696/1770|566/589||,A|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1G>A|||||741|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977C>T|||||411|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586C>T|||||2567|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995G>A|||||3433|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210G>A|||||4909|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970G>A|||||1596|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539G>A|||||767|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069G>A|||||616|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949C>T|||||383|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959C>T|||||383|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008C>T|||||383|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568C>T|||||817|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617C>T|||||817|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590C>T|||||2567|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612C>T|||||2567|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751C>T|||||2570|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600C>T|||||2571|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572C>T|||||2572|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432C>T|||||2600|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049C>T|||||4607|,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|19/19|c.1680+19G>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|19/19|c.1677+19G>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding|4/4|c.282+19G>A|||||| 22 50961622 . G A . . ANN=A|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|19/19|c.1704G>A|p.Gly568Gly|1798/2077|1704/1770|568/589||,A|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1G>A|||||733|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977C>T|||||403|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586C>T|||||2559|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995G>A|||||3441|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210G>A|||||4917|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970G>A|||||1604|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539G>A|||||775|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069G>A|||||624|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949C>T|||||375|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959C>T|||||375|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008C>T|||||375|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568C>T|||||809|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617C>T|||||809|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590C>T|||||2559|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612C>T|||||2559|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751C>T|||||2562|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600C>T|||||2563|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572C>T|||||2564|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432C>T|||||2592|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049C>T|||||4599|,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|19/19|c.1680+27G>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|19/19|c.1677+27G>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding|4/4|c.282+27G>A|||||| 22 50961714 . C T . . ANN=T|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|20/20|c.1731C>T|p.Ala577Ala|1809/1996|1731/1821|577/606||,T|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|20/20|c.1728C>T|p.Ala576Ala|1850/2037|1728/1818|576/605||,T|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding|5/5|c.333C>T|p.Ala111Ala|335/521|333/423|111/140||,T|3_prime_UTR_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|19/19|c.*26C>T|||||26|,T|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1C>T|||||641|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977G>A|||||311|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586G>A|||||2467|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995C>T|||||3533|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970C>T|||||1696|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539C>T|||||867|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069C>T|||||716|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949G>A|||||283|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959G>A|||||283|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008G>A|||||283|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568G>A|||||717|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617G>A|||||717|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590G>A|||||2467|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612G>A|||||2467|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751G>A|||||2470|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600G>A|||||2471|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572G>A|||||2472|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432G>A|||||2500|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049G>A|||||4507| 22 50961786 . C T . . ANN=T|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|20/20|c.1803C>T|p.Pro601Pro|1881/1996|1803/1821|601/606||,T|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|20/20|c.1800C>T|p.Pro600Pro|1922/2037|1800/1818|600/605||,T|synonymous_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding|5/5|c.405C>T|p.Pro135Pro|407/521|405/423|135/140||,T|3_prime_UTR_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|19/19|c.*98C>T|||||98|,T|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1C>T|||||569|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977G>A|||||239|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586G>A|||||2395|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995C>T|||||3605|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970C>T|||||1768|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539C>T|||||939|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069C>T|||||788|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949G>A|||||211|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959G>A|||||211|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008G>A|||||211|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568G>A|||||645|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617G>A|||||645|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590G>A|||||2395|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612G>A|||||2395|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751G>A|||||2398|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600G>A|||||2399|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572G>A|||||2400|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432G>A|||||2428|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049G>A|||||4435| 22 50961816 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|20/20|c.*12C>T|||||12|,T|3_prime_UTR_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|20/20|c.*12C>T|||||12|,T|3_prime_UTR_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|19/19|c.*128C>T|||||128|,T|3_prime_UTR_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding|5/5|c.*12C>T|||||12|,T|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1C>T|||||539|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977G>A|||||209|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586G>A|||||2365|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995C>T|||||3635|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970C>T|||||1798|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539C>T|||||969|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069C>T|||||818|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949G>A|||||181|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959G>A|||||181|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008G>A|||||181|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568G>A|||||615|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617G>A|||||615|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590G>A|||||2365|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612G>A|||||2365|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751G>A|||||2368|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600G>A|||||2369|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572G>A|||||2370|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432G>A|||||2398|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049G>A|||||4405| 22 50961842 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|20/20|c.*38T>C|||||38|,C|3_prime_UTR_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|20/20|c.*38T>C|||||38|,C|3_prime_UTR_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|19/19|c.*154T>C|||||154|,C|3_prime_UTR_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding|5/5|c.*38T>C|||||38|,C|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1T>C|||||513|,C|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977A>G|||||183|,C|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586A>G|||||2339|,C|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995T>C|||||3661|,C|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970T>C|||||1824|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539T>C|||||995|,C|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069T>C|||||844|,C|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949A>G|||||155|,C|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959A>G|||||155|,C|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008A>G|||||155|,C|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568A>G|||||589|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617A>G|||||589|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590A>G|||||2339|,C|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612A>G|||||2339|,C|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751A>G|||||2342|,C|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600A>G|||||2343|,C|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572A>G|||||2344|,C|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432A>G|||||2372|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049A>G|||||4379| 22 50961854 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|20/20|c.*50T>C|||||50|,C|3_prime_UTR_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|20/20|c.*50T>C|||||50|,C|3_prime_UTR_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|19/19|c.*166T>C|||||166|,C|3_prime_UTR_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding|5/5|c.*50T>C|||||50|,C|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1T>C|||||501|,C|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977A>G|||||171|,C|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586A>G|||||2327|,C|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995T>C|||||3673|,C|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970T>C|||||1836|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539T>C|||||1007|,C|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069T>C|||||856|,C|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949A>G|||||143|,C|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959A>G|||||143|,C|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008A>G|||||143|,C|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568A>G|||||577|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617A>G|||||577|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590A>G|||||2327|,C|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612A>G|||||2327|,C|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751A>G|||||2330|,C|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600A>G|||||2331|,C|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572A>G|||||2332|,C|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432A>G|||||2360|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049A>G|||||4367| 22 50962009 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding|2/2|c.*31G>A|||||31|,T|3_prime_UTR_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding|2/2|c.*31G>A|||||31|,T|3_prime_UTR_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding|2/2|c.*31G>A|||||31|,T|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1C>T|||||346|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding||c.*1899C>T|||||108|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977G>A|||||16|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586G>A|||||2172|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding||c.*1940C>T|||||108|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995C>T|||||3828|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding||c.*1864C>T|||||108|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970C>T|||||1991|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539C>T|||||1162|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069C>T|||||1011|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.*425C>T|||||109|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568G>A|||||422|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617G>A|||||422|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590G>A|||||2172|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612G>A|||||2172|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751G>A|||||2175|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600G>A|||||2176|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572G>A|||||2177|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432G>A|||||2205|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049G>A|||||4212| 22 50962057 . G A . . ANN=A|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding|2/2|c.784C>T|p.Arg262Cys|960/992|784/801|262/266||,A|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding|2/2|c.784C>T|p.Arg262Cys|932/992|784/801|262/266||,A|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding|2/2|c.784C>T|p.Arg262Cys|942/1002|784/801|262/266||,A|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding|2/2|c.784C>T|p.Arg262Cys|991/1051|784/801|262/266||,A|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1G>A|||||298|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding||c.*1899G>A|||||156|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586C>T|||||2124|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding||c.*1940G>A|||||156|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995G>A|||||3876|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding||c.*1864G>A|||||156|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970G>A|||||2039|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539G>A|||||1210|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069G>A|||||1059|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.*425G>A|||||157|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568C>T|||||374|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617C>T|||||374|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590C>T|||||2124|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612C>T|||||2124|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751C>T|||||2127|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600C>T|||||2128|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572C>T|||||2129|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432C>T|||||2157|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049C>T|||||4164| 22 50962065 . G A . . ANN=A|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding|2/2|c.776C>T|p.Ala259Val|952/992|776/801|259/266||,A|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding|2/2|c.776C>T|p.Ala259Val|924/992|776/801|259/266||,A|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding|2/2|c.776C>T|p.Ala259Val|934/1002|776/801|259/266||,A|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding|2/2|c.776C>T|p.Ala259Val|983/1051|776/801|259/266||,A|sequence_feature|LOW|SCO2|ENSG00000130489|helix|ENST00000395693|protein_coding|2/2|c.776C>T||||||,A|sequence_feature|LOW|SCO2|ENSG00000130489|domain:Thioredoxin|ENST00000395693|protein_coding|2/2|c.776C>T||||||,A|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1G>A|||||290|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding||c.*1899G>A|||||164|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586C>T|||||2116|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding||c.*1940G>A|||||164|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995G>A|||||3884|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding||c.*1864G>A|||||164|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970G>A|||||2047|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539G>A|||||1218|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069G>A|||||1067|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.*425G>A|||||165|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568C>T|||||366|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617C>T|||||366|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590C>T|||||2116|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612C>T|||||2116|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751C>T|||||2119|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600C>T|||||2120|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572C>T|||||2121|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432C>T|||||2149|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049C>T|||||4156| 22 50962078 . G T . . ANN=T|synonymous_variant|LOW|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding|2/2|c.763C>A|p.Arg255Arg|939/992|763/801|255/266||,T|synonymous_variant|LOW|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding|2/2|c.763C>A|p.Arg255Arg|911/992|763/801|255/266||,T|synonymous_variant|LOW|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding|2/2|c.763C>A|p.Arg255Arg|921/1002|763/801|255/266||,T|synonymous_variant|LOW|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding|2/2|c.763C>A|p.Arg255Arg|970/1051|763/801|255/266||,T|sequence_feature|LOW|SCO2|ENSG00000130489|helix|ENST00000395693|protein_coding|2/2|c.763C>A||||||,T|sequence_feature|LOW|SCO2|ENSG00000130489|domain:Thioredoxin|ENST00000395693|protein_coding|2/2|c.763C>A||||||,T|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1G>T|||||277|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding||c.*1899G>T|||||177|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586C>A|||||2103|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding||c.*1940G>T|||||177|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995G>T|||||3897|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding||c.*1864G>T|||||177|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970G>T|||||2060|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539G>T|||||1231|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069G>T|||||1080|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.*425G>T|||||178|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568C>A|||||353|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617C>A|||||353|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590C>A|||||2103|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612C>A|||||2103|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751C>A|||||2106|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600C>A|||||2107|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572C>A|||||2108|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432C>A|||||2136|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049C>A|||||4143| 22 50962117 . C T . . ANN=T|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding|2/2|c.724G>A|p.Gly242Ser|900/992|724/801|242/266||,T|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding|2/2|c.724G>A|p.Gly242Ser|872/992|724/801|242/266||,T|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding|2/2|c.724G>A|p.Gly242Ser|882/1002|724/801|242/266||,T|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding|2/2|c.724G>A|p.Gly242Ser|931/1051|724/801|242/266||,T|sequence_feature|LOW|SCO2|ENSG00000130489|domain:Thioredoxin|ENST00000395693|protein_coding|2/2|c.724G>A||||||,T|sequence_feature|LOW|SCO2|ENSG00000130489|beta_strand|ENST00000395693|protein_coding|2/2|c.724G>A||||||,T|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1C>T|||||238|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding||c.*1899C>T|||||216|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586G>A|||||2064|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding||c.*1940C>T|||||216|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995C>T|||||3936|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding||c.*1864C>T|||||216|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970C>T|||||2099|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539C>T|||||1270|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069C>T|||||1119|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.*425C>T|||||217|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568G>A|||||314|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617G>A|||||314|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590G>A|||||2064|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612G>A|||||2064|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751G>A|||||2067|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600G>A|||||2068|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572G>A|||||2069|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432G>A|||||2097|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049G>A|||||4104| 22 50962208 . T G . . ANN=G|synonymous_variant|LOW|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding|2/2|c.633A>C|p.Ala211Ala|809/992|633/801|211/266||,G|synonymous_variant|LOW|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding|2/2|c.633A>C|p.Ala211Ala|781/992|633/801|211/266||,G|synonymous_variant|LOW|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding|2/2|c.633A>C|p.Ala211Ala|791/1002|633/801|211/266||,G|synonymous_variant|LOW|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding|2/2|c.633A>C|p.Ala211Ala|840/1051|633/801|211/266||,G|sequence_feature|LOW|SCO2|ENSG00000130489|domain:Thioredoxin|ENST00000395693|protein_coding|2/2|c.633A>C||||||,G|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1T>G|||||147|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding||c.*1899T>G|||||307|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586A>C|||||1973|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding||c.*1940T>G|||||307|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995T>G|||||4027|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding||c.*1864T>G|||||307|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970T>G|||||2190|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539T>G|||||1361|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069T>G|||||1210|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.*425T>G|||||308|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568A>C|||||223|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617A>C|||||223|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590A>C|||||1973|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612A>C|||||1973|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751A>C|||||1976|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600A>C|||||1977|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572A>C|||||1978|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432A>C|||||2006|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049A>C|||||4013| 22 50962259 . G A . . ANN=A|synonymous_variant|LOW|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding|2/2|c.582C>T|p.Ser194Ser|758/992|582/801|194/266||,A|synonymous_variant|LOW|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding|2/2|c.582C>T|p.Ser194Ser|730/992|582/801|194/266||,A|synonymous_variant|LOW|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding|2/2|c.582C>T|p.Ser194Ser|740/1002|582/801|194/266||,A|synonymous_variant|LOW|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding|2/2|c.582C>T|p.Ser194Ser|789/1051|582/801|194/266||,A|sequence_feature|LOW|SCO2|ENSG00000130489|domain:Thioredoxin|ENST00000395693|protein_coding|2/2|c.582C>T||||||,A|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1G>A|||||96|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding||c.*1899G>A|||||358|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586C>T|||||1922|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding||c.*1940G>A|||||358|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995G>A|||||4078|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding||c.*1864G>A|||||358|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970G>A|||||2241|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539G>A|||||1412|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069G>A|||||1261|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.*425G>A|||||359|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568C>T|||||172|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617C>T|||||172|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590C>T|||||1922|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612C>T|||||1922|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751C>T|||||1925|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600C>T|||||1926|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572C>T|||||1927|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432C>T|||||1955|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049C>T|||||3962| 22 50962265 . G A . . ANN=A|synonymous_variant|LOW|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding|2/2|c.576C>T|p.Thr192Thr|752/992|576/801|192/266||,A|synonymous_variant|LOW|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding|2/2|c.576C>T|p.Thr192Thr|724/992|576/801|192/266||,A|synonymous_variant|LOW|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding|2/2|c.576C>T|p.Thr192Thr|734/1002|576/801|192/266||,A|synonymous_variant|LOW|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding|2/2|c.576C>T|p.Thr192Thr|783/1051|576/801|192/266||,A|sequence_feature|LOW|SCO2|ENSG00000130489|domain:Thioredoxin|ENST00000395693|protein_coding|2/2|c.576C>T||||||,A|sequence_feature|LOW|SCO2|ENSG00000130489|beta_strand|ENST00000395693|protein_coding|2/2|c.576C>T||||||,A|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1G>A|||||90|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding||c.*1899G>A|||||364|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586C>T|||||1916|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding||c.*1940G>A|||||364|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995G>A|||||4084|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding||c.*1864G>A|||||364|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970G>A|||||2247|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539G>A|||||1418|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069G>A|||||1267|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.*425G>A|||||365|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568C>T|||||166|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617C>T|||||166|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590C>T|||||1916|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612C>T|||||1916|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751C>T|||||1919|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600C>T|||||1920|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572C>T|||||1921|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432C>T|||||1949|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049C>T|||||3956| 22 50962381 . C T . . ANN=T|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding|2/2|c.460G>A|p.Glu154Lys|636/992|460/801|154/266||,T|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding|2/2|c.460G>A|p.Glu154Lys|608/992|460/801|154/266||,T|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding|2/2|c.460G>A|p.Glu154Lys|618/1002|460/801|154/266||,T|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding|2/2|c.460G>A|p.Glu154Lys|667/1051|460/801|154/266||,T|sequence_feature|LOW|SCO2|ENSG00000130489|domain:Thioredoxin|ENST00000395693|protein_coding|2/2|c.460G>A||||||,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding||c.*1899C>T|||||480|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586G>A|||||1800|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding||c.*1940C>T|||||480|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995C>T|||||4200|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding||c.*1864C>T|||||480|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970C>T|||||2363|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539C>T|||||1534|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069C>T|||||1383|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.*425C>T|||||481|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568G>A|||||50|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617G>A|||||50|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590G>A|||||1800|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612G>A|||||1800|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751G>A|||||1803|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600G>A|||||1804|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572G>A|||||1805|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432G>A|||||1833|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049G>A|||||3840|,T|non_coding_exon_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense|1/1|n.27C>T|||||| 22 50962424 . G A . . ANN=A|synonymous_variant|LOW|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding|2/2|c.417C>T|p.Asp139Asp|593/992|417/801|139/266||,A|synonymous_variant|LOW|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding|2/2|c.417C>T|p.Asp139Asp|565/992|417/801|139/266||,A|synonymous_variant|LOW|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding|2/2|c.417C>T|p.Asp139Asp|575/1002|417/801|139/266||,A|synonymous_variant|LOW|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding|2/2|c.417C>T|p.Asp139Asp|624/1051|417/801|139/266||,A|sequence_feature|LOW|SCO2|ENSG00000130489|domain:Thioredoxin|ENST00000395693|protein_coding|2/2|c.417C>T||||||,A|sequence_feature|LOW|SCO2|ENSG00000130489|helix|ENST00000395693|protein_coding|2/2|c.417C>T||||||,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding||c.*1899G>A|||||523|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586C>T|||||1757|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding||c.*1940G>A|||||523|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995G>A|||||4243|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding||c.*1864G>A|||||523|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970G>A|||||2406|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539G>A|||||1577|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069G>A|||||1426|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.*425G>A|||||524|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568C>T|||||7|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617C>T|||||7|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590C>T|||||1757|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612C>T|||||1757|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751C>T|||||1760|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600C>T|||||1761|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572C>T|||||1762|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432C>T|||||1790|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049C>T|||||3797|,A|non_coding_exon_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense|1/1|n.70G>A|||||| 22 50962438 . CAG C . . ANN=|frameshift_variant|HIGH|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding|2/2|c.401_402delCT|p.Pro134fs|578/992|401/801|134/266||,|frameshift_variant|HIGH|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding|2/2|c.401_402delCT|p.Pro134fs|550/992|401/801|134/266||,|frameshift_variant|HIGH|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding|2/2|c.401_402delCT|p.Pro134fs|560/1002|401/801|134/266||,|frameshift_variant|HIGH|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding|2/2|c.401_402delCT|p.Pro134fs|609/1051|401/801|134/266||,|frameshift_variant|HIGH|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding|2/2|c.401_402delCT|p.Pro134fs|560/568|401/410|134/135||WARNING_TRANSCRIPT_INCOMPLETE,|frameshift_variant|HIGH|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding|2/2|c.401_402delCT|p.Pro134fs|609/617|401/410|134/135||WARNING_TRANSCRIPT_INCOMPLETE,|sequence_feature|LOW|SCO2|ENSG00000130489|domain:Thioredoxin|ENST00000395693|protein_coding|2/2|c.401_402delCT||||||,|sequence_feature|LOW|SCO2|ENSG00000130489|beta_strand|ENST00000395693|protein_coding|2/2|c.401_402delCT||||||,|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding||c.*1899_*1899delAG|||||538|,|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586_*1586delCT|||||1742|,|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding||c.*1940_*1940delAG|||||538|,|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995_*995delAG|||||4258|,|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding||c.*1864_*1864delAG|||||538|,|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970_*970delAG|||||2421|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539_*539delAG|||||1592|,|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069_*1069delAG|||||1441|,|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.*425_*425delAG|||||539|,|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590_*1590delCT|||||1742|,|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612_*1612delCT|||||1742|,|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751_*1751delCT|||||1745|,|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600_*1600delCT|||||1746|,|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572_*1572delCT|||||1747|,|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432_*1432delCT|||||1775|WARNING_TRANSCRIPT_NO_STOP_CODON,|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049_*2049delCT|||||3782|,|non_coding_exon_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense|1/1|n.85_86delAG||||||;LOF=(SCO2|ENSG00000130489|6|0.67) 22 50962463 . C T . . ANN=T|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding|2/2|c.378G>A|p.Met126Ile|554/992|378/801|126/266||,T|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding|2/2|c.378G>A|p.Met126Ile|526/992|378/801|126/266||,T|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding|2/2|c.378G>A|p.Met126Ile|536/1002|378/801|126/266||,T|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding|2/2|c.378G>A|p.Met126Ile|585/1051|378/801|126/266||,T|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding|2/2|c.378G>A|p.Met126Ile|536/568|378/410|126/135||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding|2/2|c.378G>A|p.Met126Ile|585/617|378/410|126/135||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|SCO2|ENSG00000130489|domain:Thioredoxin|ENST00000395693|protein_coding|2/2|c.378G>A||||||,T|sequence_feature|LOW|SCO2|ENSG00000130489|beta_strand|ENST00000395693|protein_coding|2/2|c.378G>A||||||,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding||c.*1899C>T|||||562|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586G>A|||||1718|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding||c.*1940C>T|||||562|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995C>T|||||4282|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding||c.*1864C>T|||||562|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970C>T|||||2445|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539C>T|||||1616|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069C>T|||||1465|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.*425C>T|||||563|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590G>A|||||1718|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612G>A|||||1718|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751G>A|||||1721|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600G>A|||||1722|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572G>A|||||1723|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432G>A|||||1751|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049G>A|||||3758|,T|non_coding_exon_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense|1/1|n.109C>T|||||| 22 50962514 . G A . . ANN=A|synonymous_variant|LOW|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding|2/2|c.327C>T|p.His109His|503/992|327/801|109/266||,A|synonymous_variant|LOW|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding|2/2|c.327C>T|p.His109His|475/992|327/801|109/266||,A|synonymous_variant|LOW|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding|2/2|c.327C>T|p.His109His|485/1002|327/801|109/266||,A|synonymous_variant|LOW|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding|2/2|c.327C>T|p.His109His|534/1051|327/801|109/266||,A|synonymous_variant|LOW|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding|2/2|c.327C>T|p.His109His|485/568|327/410|109/135||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding|2/2|c.327C>T|p.His109His|534/617|327/410|109/135||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|SCO2|ENSG00000130489|domain:Thioredoxin|ENST00000395693|protein_coding|2/2|c.327C>T||||||,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding||c.*1899G>A|||||613|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586C>T|||||1667|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding||c.*1940G>A|||||613|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995G>A|||||4333|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding||c.*1864G>A|||||613|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970G>A|||||2496|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539G>A|||||1667|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069G>A|||||1516|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.*425G>A|||||614|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590C>T|||||1667|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612C>T|||||1667|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751C>T|||||1670|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600C>T|||||1671|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572C>T|||||1672|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432C>T|||||1700|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049C>T|||||3707|,A|non_coding_exon_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense|1/1|n.160G>A|||||| 22 50962560 . A G . . ANN=G|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding|2/2|c.281T>C|p.Leu94Pro|457/992|281/801|94/266||,G|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding|2/2|c.281T>C|p.Leu94Pro|429/992|281/801|94/266||,G|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding|2/2|c.281T>C|p.Leu94Pro|439/1002|281/801|94/266||,G|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding|2/2|c.281T>C|p.Leu94Pro|488/1051|281/801|94/266||,G|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding|2/2|c.281T>C|p.Leu94Pro|439/568|281/410|94/135||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding|2/2|c.281T>C|p.Leu94Pro|488/617|281/410|94/135||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|SCO2|ENSG00000130489|domain:Thioredoxin|ENST00000395693|protein_coding|2/2|c.281T>C||||||,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding||c.*1899A>G|||||659|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586T>C|||||1621|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding||c.*1940A>G|||||659|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995A>G|||||4379|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding||c.*1864A>G|||||659|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970A>G|||||2542|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539A>G|||||1713|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069A>G|||||1562|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.*425A>G|||||660|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590T>C|||||1621|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612T>C|||||1621|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751T>C|||||1624|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600T>C|||||1625|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572T>C|||||1626|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432T>C|||||1654|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049T>C|||||3661|,G|non_coding_exon_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense|1/1|n.206A>G|||||| 22 50962640 . G A . . ANN=A|synonymous_variant|LOW|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding|2/2|c.201C>T|p.Phe67Phe|377/992|201/801|67/266||,A|synonymous_variant|LOW|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding|2/2|c.201C>T|p.Phe67Phe|349/992|201/801|67/266||,A|synonymous_variant|LOW|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding|2/2|c.201C>T|p.Phe67Phe|359/1002|201/801|67/266||,A|synonymous_variant|LOW|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding|2/2|c.201C>T|p.Phe67Phe|408/1051|201/801|67/266||,A|synonymous_variant|LOW|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding|2/2|c.201C>T|p.Phe67Phe|359/568|201/410|67/135||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding|2/2|c.201C>T|p.Phe67Phe|408/617|201/410|67/135||WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding||c.*1899G>A|||||739|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586C>T|||||1541|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding||c.*1940G>A|||||739|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995G>A|||||4459|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding||c.*1864G>A|||||739|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970G>A|||||2622|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539G>A|||||1793|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069G>A|||||1642|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.*425G>A|||||740|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590C>T|||||1541|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612C>T|||||1541|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751C>T|||||1544|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600C>T|||||1545|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572C>T|||||1546|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432C>T|||||1574|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049C>T|||||3581|,A|non_coding_exon_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense|1/1|n.286G>A|||||| 22 50962782 . C G . . ANN=G|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding|2/2|c.59G>C|p.Arg20Pro|235/992|59/801|20/266||,G|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding|2/2|c.59G>C|p.Arg20Pro|207/992|59/801|20/266||,G|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding|2/2|c.59G>C|p.Arg20Pro|217/1002|59/801|20/266||,G|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding|2/2|c.59G>C|p.Arg20Pro|266/1051|59/801|20/266||,G|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding|2/2|c.59G>C|p.Arg20Pro|217/568|59/410|20/135||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding|2/2|c.59G>C|p.Arg20Pro|266/617|59/410|20/135||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|SCO2|ENSG00000130489|transit_peptide:Mitochondrion|ENST00000395693|protein_coding|2/2|c.59G>C||||||,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding||c.*1899C>G|||||881|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586G>C|||||1399|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding||c.*1940C>G|||||881|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995C>G|||||4601|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding||c.*1864C>G|||||881|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970C>G|||||2764|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539C>G|||||1935|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069C>G|||||1784|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.*425C>G|||||882|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590G>C|||||1399|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612G>C|||||1399|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751G>C|||||1402|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600G>C|||||1403|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572G>C|||||1404|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432G>C|||||1432|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049G>C|||||3439|,G|non_coding_exon_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense|1/1|n.428C>G|||||| 22 50964153 . T C . . ANN=C|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.-177A>G|||||120|,C|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.-149A>G|||||118|,C|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding||c.*1899T>C|||||2252|,C|downstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.*855T>C|||||944|,C|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586A>G|||||28|,C|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding||c.*916A>G|||||4717|,C|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding||c.*1940T>C|||||2252|,C|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding||c.*1864T>C|||||2252|,C|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970T>C|||||4135|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539T>C|||||3306|,C|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069T>C|||||3155|,C|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.*425T>C|||||2253|,C|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590A>G|||||28|,C|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612A>G|||||28|,C|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751A>G|||||31|,C|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600A>G|||||32|,C|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572A>G|||||33|,C|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432A>G|||||61|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049A>G|||||2068|,C|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron||n.*1722A>G|||||3986|,C|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding||c.*836A>G|||||4685|,C|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding||c.*899A>G|||||4685|,C|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding||c.*589A>G|||||4702|,C|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding||c.*762A>G|||||4756|,C|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron||n.*753A>G|||||4815|,C|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron||n.*636A>G|||||4914|,C|intron_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding|1/1|c.-14+277A>G||||||,C|intron_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding|1/1|c.-14+522A>G||||||,C|intron_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding|1/1|c.-14+277A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding|1/1|c.-14+522A>G||||||WARNING_TRANSCRIPT_INCOMPLETE 22 50964236 . G A . . ANN=A|missense_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding|10/10|c.1427C>T|p.Ser476Leu|1549/1604|1427/1464|476/487||,A|missense_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding|10/10|c.1412C>T|p.Ser471Leu|1553/1608|1412/1449|471/482||,A|missense_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding|10/10|c.1412C>T|p.Ser471Leu|1575/1630|1412/1449|471/482||,A|missense_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding|10/10|c.1412C>T|p.Ser471Leu|1563/1614|1412/1449|471/482||,A|missense_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding|9/9|c.1313C>T|p.Ser438Leu|1410/1432|1313/1335|438/444||WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.-177C>T|||||203|,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.-149C>T|||||201|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding||c.*1899G>A|||||2335|,A|downstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.*855G>A|||||1027|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding||c.*916C>T|||||4634|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding||c.*1940G>A|||||2335|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding||c.*1864G>A|||||2335|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970G>A|||||4218|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539G>A|||||3389|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069G>A|||||3238|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.*425G>A|||||2336|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049C>T|||||1985|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron||n.*1722C>T|||||3903|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding||c.*836C>T|||||4602|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding||c.*899C>T|||||4602|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding||c.*589C>T|||||4619|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding||c.*762C>T|||||4673|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron||n.*753C>T|||||4732|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron||n.*636C>T|||||4831|,A|intron_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding|1/1|c.-14+194C>T||||||,A|intron_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding|1/1|c.-14+439C>T||||||,A|intron_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding|1/1|c.-14+194C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding|1/1|c.-14+439C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron|9/9|n.1699C>T||||||,A|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron|8/8|n.1522C>T|||||| 22 50964255 . C T . . ANN=T|missense_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding|10/10|c.1408G>A|p.Ala470Thr|1530/1604|1408/1464|470/487||,T|missense_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding|10/10|c.1393G>A|p.Ala465Thr|1534/1608|1393/1449|465/482||,T|missense_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding|10/10|c.1393G>A|p.Ala465Thr|1556/1630|1393/1449|465/482||,T|missense_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding|10/10|c.1393G>A|p.Ala465Thr|1544/1614|1393/1449|465/482||,T|missense_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding|9/9|c.1294G>A|p.Ala432Thr|1391/1432|1294/1335|432/444||WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.-177G>A|||||222|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.-149G>A|||||220|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding||c.*1899C>T|||||2354|,T|downstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.*855C>T|||||1046|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding||c.*916G>A|||||4615|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding||c.*1940C>T|||||2354|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding||c.*1864C>T|||||2354|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970C>T|||||4237|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539C>T|||||3408|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069C>T|||||3257|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.*425C>T|||||2355|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049G>A|||||1966|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron||n.*1722G>A|||||3884|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding||c.*836G>A|||||4583|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding||c.*899G>A|||||4583|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding||c.*589G>A|||||4600|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding||c.*762G>A|||||4654|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron||n.*753G>A|||||4713|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron||n.*636G>A|||||4812|,T|intron_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding|1/1|c.-14+175G>A||||||,T|intron_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding|1/1|c.-14+420G>A||||||,T|intron_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding|1/1|c.-14+175G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding|1/1|c.-14+420G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron|9/9|n.1680G>A||||||,T|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron|8/8|n.1503G>A|||||| 22 50964402 . G A . . ANN=A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.-177C>T|||||369|,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.-149C>T|||||367|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding||c.*1899G>A|||||2501|,A|downstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.*855G>A|||||1193|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding||c.*916C>T|||||4468|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding||c.*1940G>A|||||2501|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding||c.*1864G>A|||||2501|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970G>A|||||4384|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539G>A|||||3555|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069G>A|||||3404|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.*425G>A|||||2502|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049C>T|||||1819|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron||n.*1722C>T|||||3737|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding||c.*836C>T|||||4436|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding||c.*899C>T|||||4436|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding||c.*589C>T|||||4453|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding||c.*762C>T|||||4507|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron||n.*753C>T|||||4566|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron||n.*636C>T|||||4665|,A|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding|9/9|c.1315+28C>T||||||,A|intron_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding|1/1|c.-14+28C>T||||||,A|intron_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding|1/1|c.-14+273C>T||||||,A|intron_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding|1/1|c.-14+28C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding|1/1|c.-14+273C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding|9/9|c.1300+28C>T||||||,A|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding|9/9|c.1300+28C>T||||||,A|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron|8/8|n.1587+28C>T||||||,A|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding|9/9|c.1300+28C>T||||||,A|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron|7/7|n.1410+28C>T||||||,A|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding|8/8|c.1201+28C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 50964446 . A T . . ANN=T|synonymous_variant|LOW|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding|9/10|c.1299T>A|p.Gly433Gly|1421/1604|1299/1464|433/487||,T|synonymous_variant|LOW|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding|9/10|c.1284T>A|p.Gly428Gly|1425/1608|1284/1449|428/482||,T|synonymous_variant|LOW|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding|9/10|c.1284T>A|p.Gly428Gly|1447/1630|1284/1449|428/482||,T|synonymous_variant|LOW|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding|9/10|c.1284T>A|p.Gly428Gly|1435/1614|1284/1449|428/482||,T|synonymous_variant|LOW|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding|8/9|c.1185T>A|p.Gly395Gly|1282/1432|1185/1335|395/444||WARNING_TRANSCRIPT_NO_STOP_CODON,T|5_prime_UTR_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding|1/2|c.-30T>A|||||1606|,T|5_prime_UTR_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding|1/2|c.-30T>A|||||1606|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.-177T>A|||||413|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.-149T>A|||||411|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding||c.*1899A>T|||||2545|,T|downstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.*855A>T|||||1237|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding||c.*916T>A|||||4424|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding||c.*1940A>T|||||2545|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding||c.*1864A>T|||||2545|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970A>T|||||4428|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539A>T|||||3599|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069A>T|||||3448|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.*425A>T|||||2546|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049T>A|||||1775|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron||n.*1722T>A|||||3693|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding||c.*836T>A|||||4392|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding||c.*899T>A|||||4392|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding||c.*589T>A|||||4409|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding||c.*762T>A|||||4463|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron||n.*753T>A|||||4522|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron||n.*636T>A|||||4621|,T|intron_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding|1/1|c.-14+229T>A||||||,T|intron_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding|1/1|c.-14+229T>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron|8/9|n.1571T>A||||||,T|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron|7/8|n.1394T>A|||||| 22 50964599 . G C . . ANN=C|sequence_feature|LOW|TYMP|ENSG00000025708|beta_strand|ENST00000395680|protein_coding|8/10|c.1160-29C>G||||||,C|sequence_feature|LOW|TYMP|ENSG00000025708|beta_strand|ENST00000395680|protein_coding|9/10|c.1160-29C>G||||||,C|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.-177C>G|||||566|,C|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.-149C>G|||||564|,C|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.-159C>G|||||25|,C|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.-159C>G|||||25|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding||c.*1899G>C|||||2698|,C|downstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.*855G>C|||||1390|,C|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding||c.*916C>G|||||4271|,C|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding||c.*1940G>C|||||2698|,C|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding||c.*1864G>C|||||2698|,C|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970G>C|||||4581|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539G>C|||||3752|,C|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069G>C|||||3601|,C|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.*425G>C|||||2699|,C|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049C>G|||||1622|,C|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron||n.*1722C>G|||||3540|,C|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding||c.*836C>G|||||4239|,C|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding||c.*899C>G|||||4239|,C|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding||c.*589C>G|||||4256|,C|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding||c.*762C>G|||||4310|,C|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron||n.*753C>G|||||4369|,C|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron||n.*636C>G|||||4468|,C|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding|8/9|c.1160-14C>G||||||,C|intron_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding|1/1|c.-14+76C>G||||||,C|intron_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding|1/1|c.-14+76C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding|8/9|c.1160-29C>G||||||,C|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding|8/9|c.1160-29C>G||||||,C|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron|7/8|n.1447-29C>G||||||,C|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding|8/9|c.1160-29C>G||||||,C|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding|7/8|c.1061-29C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron|7/8|n.1241C>G|||||| 22 50964618 . C T . . ANN=T|sequence_feature|LOW|TYMP|ENSG00000025708|beta_strand|ENST00000395680|protein_coding|8/10|c.1160-48G>A||||||,T|sequence_feature|LOW|TYMP|ENSG00000025708|beta_strand|ENST00000395680|protein_coding|9/10|c.1160-48G>A||||||,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.-177G>A|||||585|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.-149G>A|||||583|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.-159G>A|||||44|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.-159G>A|||||44|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding||c.*1899C>T|||||2717|,T|downstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.*855C>T|||||1409|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding||c.*916G>A|||||4252|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding||c.*1940C>T|||||2717|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding||c.*1864C>T|||||2717|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970C>T|||||4600|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539C>T|||||3771|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069C>T|||||3620|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.*425C>T|||||2718|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049G>A|||||1603|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron||n.*1722G>A|||||3521|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding||c.*836G>A|||||4220|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding||c.*899G>A|||||4220|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding||c.*589G>A|||||4237|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding||c.*762G>A|||||4291|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron||n.*753G>A|||||4350|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron||n.*636G>A|||||4449|,T|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding|8/9|c.1160-33G>A||||||,T|intron_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding|1/1|c.-14+57G>A||||||,T|intron_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding|1/1|c.-14+57G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding|8/9|c.1160-48G>A||||||,T|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding|8/9|c.1160-48G>A||||||,T|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron|7/8|n.1447-48G>A||||||,T|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding|8/9|c.1160-48G>A||||||,T|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding|7/8|c.1061-48G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron|7/8|n.1222G>A|||||| 22 50964637 . G T . . ANN=T|TF_binding_site_variant|LOW|||Yy1|MA0095.1|||||||||,T|sequence_feature|LOW|TYMP|ENSG00000025708|beta_strand|ENST00000395680|protein_coding|8/10|c.1159+38C>A||||||,T|sequence_feature|LOW|TYMP|ENSG00000025708|beta_strand|ENST00000395680|protein_coding|9/10|c.1159+38C>A||||||,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.-177C>A|||||604|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.-149C>A|||||602|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.-159C>A|||||63|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.-159C>A|||||63|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding||c.*1899G>T|||||2736|,T|downstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.*855G>T|||||1428|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding||c.*916C>A|||||4233|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding||c.*1940G>T|||||2736|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding||c.*1864G>T|||||2736|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970G>T|||||4619|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539G>T|||||3790|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069G>T|||||3639|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.*425G>T|||||2737|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049C>A|||||1584|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron||n.*1722C>A|||||3502|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding||c.*836C>A|||||4201|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding||c.*899C>A|||||4201|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding||c.*589C>A|||||4218|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding||c.*762C>A|||||4272|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron||n.*753C>A|||||4331|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron||n.*636C>A|||||4430|,T|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding|8/9|c.1159+38C>A||||||,T|intron_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding|1/1|c.-14+38C>A||||||,T|intron_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding|1/1|c.-14+38C>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding|8/9|c.1159+38C>A||||||,T|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding|8/9|c.1159+38C>A||||||,T|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron|7/8|n.1446+38C>A||||||,T|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding|8/9|c.1159+38C>A||||||,T|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding|7/8|c.1060+38C>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron|7/8|n.1203C>A|||||| 22 50964653 . C A . . ANN=A|sequence_feature|LOW|TYMP|ENSG00000025708|beta_strand|ENST00000395680|protein_coding|8/10|c.1159+22G>T||||||,A|sequence_feature|LOW|TYMP|ENSG00000025708|beta_strand|ENST00000395680|protein_coding|9/10|c.1159+22G>T||||||,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.-177G>T|||||620|,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.-149G>T|||||618|,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.-159G>T|||||79|,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.-159G>T|||||79|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding||c.*1899C>A|||||2752|,A|downstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.*855C>A|||||1444|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding||c.*916G>T|||||4217|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding||c.*1940C>A|||||2752|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding||c.*1864C>A|||||2752|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970C>A|||||4635|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539C>A|||||3806|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069C>A|||||3655|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.*425C>A|||||2753|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049G>T|||||1568|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron||n.*1722G>T|||||3486|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding||c.*836G>T|||||4185|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding||c.*899G>T|||||4185|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding||c.*589G>T|||||4202|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding||c.*762G>T|||||4256|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron||n.*753G>T|||||4315|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron||n.*636G>T|||||4414|,A|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding|8/9|c.1159+22G>T||||||,A|intron_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding|1/1|c.-14+22G>T||||||,A|intron_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding|1/1|c.-14+22G>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding|8/9|c.1159+22G>T||||||,A|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding|8/9|c.1159+22G>T||||||,A|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron|7/8|n.1446+22G>T||||||,A|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding|8/9|c.1159+22G>T||||||,A|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding|7/8|c.1060+22G>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron|7/8|n.1187G>T|||||| 22 50964663 . C T . . ANN=T|sequence_feature|LOW|TYMP|ENSG00000025708|beta_strand|ENST00000395680|protein_coding|8/10|c.1159+12G>A||||||,T|sequence_feature|LOW|TYMP|ENSG00000025708|beta_strand|ENST00000395680|protein_coding|9/10|c.1159+12G>A||||||,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.-177G>A|||||630|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.-149G>A|||||628|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.-159G>A|||||89|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.-159G>A|||||89|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding||c.*1899C>T|||||2762|,T|downstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.*855C>T|||||1454|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding||c.*916G>A|||||4207|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding||c.*1940C>T|||||2762|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding||c.*1864C>T|||||2762|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970C>T|||||4645|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539C>T|||||3816|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069C>T|||||3665|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.*425C>T|||||2763|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049G>A|||||1558|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron||n.*1722G>A|||||3476|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding||c.*836G>A|||||4175|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding||c.*899G>A|||||4175|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding||c.*589G>A|||||4192|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding||c.*762G>A|||||4246|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron||n.*753G>A|||||4305|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron||n.*636G>A|||||4404|,T|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding|8/9|c.1159+12G>A||||||,T|intron_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding|1/1|c.-14+12G>A||||||,T|intron_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding|1/1|c.-14+12G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding|8/9|c.1159+12G>A||||||,T|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding|8/9|c.1159+12G>A||||||,T|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron|7/8|n.1446+12G>A||||||,T|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding|8/9|c.1159+12G>A||||||,T|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding|7/8|c.1060+12G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron|7/8|n.1177G>A|||||| 22 50964862 . G A . . ANN=A|synonymous_variant|LOW|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding|8/10|c.972C>T|p.Ala324Ala|1094/1604|972/1464|324/487||,A|synonymous_variant|LOW|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding|8/10|c.972C>T|p.Ala324Ala|1113/1608|972/1449|324/482||,A|synonymous_variant|LOW|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding|8/10|c.972C>T|p.Ala324Ala|1135/1630|972/1449|324/482||,A|synonymous_variant|LOW|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding|8/10|c.972C>T|p.Ala324Ala|1123/1614|972/1449|324/482||,A|synonymous_variant|LOW|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding|7/9|c.873C>T|p.Ala291Ala|970/1432|873/1335|291/444||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395681|protein_coding|8/10|c.972C>T||||||,A|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395680|protein_coding|8/10|c.972C>T||||||,A|5_prime_UTR_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding|1/2|c.-201C>T|||||2022|,A|5_prime_UTR_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding|1/2|c.-201C>T|||||2022|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.-177C>T|||||829|,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.-149C>T|||||827|,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.-159C>T|||||288|,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.-159C>T|||||288|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding||c.*1899G>A|||||2961|,A|downstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.*855G>A|||||1653|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding||c.*916C>T|||||4008|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding||c.*1940G>A|||||2961|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding||c.*1864G>A|||||2961|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970G>A|||||4844|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539G>A|||||4015|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069G>A|||||3864|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.*425G>A|||||2962|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049C>T|||||1359|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron||n.*1722C>T|||||3277|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding||c.*836C>T|||||3976|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding||c.*899C>T|||||3976|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding||c.*589C>T|||||3993|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding||c.*762C>T|||||4047|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron||n.*753C>T|||||4106|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron||n.*636C>T|||||4205|,A|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron|7/9|n.1259C>T||||||,A|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron|7/8|n.978C>T|||||| 22 50964907 . TGCGG T . . ANN=|splice_region_variant&intron_variant|LOW|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding|7/9|c.929-6_929-3delCCGC||||||,|splice_region_variant&intron_variant|LOW|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding|7/9|c.929-6_929-3delCCGC||||||,|splice_region_variant&intron_variant|LOW|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding|7/9|c.929-6_929-3delCCGC||||||,|splice_region_variant&intron_variant|LOW|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron|6/8|n.1216-6_1216-3delCCGC||||||,|splice_region_variant&intron_variant|LOW|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding|7/9|c.929-6_929-3delCCGC||||||,|splice_region_variant&intron_variant|LOW|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron|6/7|n.935-6_935-3delCCGC||||||,|splice_region_variant&intron_variant|LOW|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding|6/8|c.830-6_830-3delCCGC||||||WARNING_TRANSCRIPT_NO_STOP_CODON,|TF_binding_site_variant|LOW|||CTCF|MA0139.1|||n.null_nulldelCCGC||||||,|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395681|protein_coding|7/10|c.929-6_929-3delCCGC||||||,|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395681|protein_coding|8/10|c.929-6_929-3delCCGC||||||,|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395680|protein_coding|7/10|c.929-6_929-3delCCGC||||||,|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395680|protein_coding|8/10|c.929-6_929-3delCCGC||||||,|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.-177_-177delCCGC|||||875|,|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.-149_-149delCCGC|||||873|,|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.-159_-159delCCGC|||||334|,|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.-208_-208delCCGC|||||40|,|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.-159_-159delCCGC|||||334|WARNING_TRANSCRIPT_INCOMPLETE,|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.-208_-208delCCGC|||||40|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding||c.*1899_*1899delGCGG|||||3007|,|downstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.*855_*855delGCGG|||||1699|,|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding||c.*916_*916delCCGC|||||3962|,|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding||c.*1940_*1940delGCGG|||||3007|,|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding||c.*1864_*1864delGCGG|||||3007|,|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970_*970delGCGG|||||4890|WARNING_TRANSCRIPT_INCOMPLETE,|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539_*539delGCGG|||||4061|,|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069_*1069delGCGG|||||3910|,|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.*425_*425delGCGG|||||3008|,|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049_*2049delCCGC|||||1313|,|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron||n.*1722_*1722delCCGC|||||3231|,|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding||c.*836_*836delCCGC|||||3930|,|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding||c.*899_*899delCCGC|||||3930|,|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding||c.*589_*589delCCGC|||||3947|,|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding||c.*762_*762delCCGC|||||4001|,|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron||n.*753_*753delCCGC|||||4060|,|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron||n.*636_*636delCCGC|||||4159| 22 50965102 . C T . . ANN=T|synonymous_variant|LOW|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding|7/10|c.831G>A|p.Leu277Leu|953/1604|831/1464|277/487||,T|synonymous_variant|LOW|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding|7/10|c.831G>A|p.Leu277Leu|972/1608|831/1449|277/482||,T|synonymous_variant|LOW|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding|7/10|c.831G>A|p.Leu277Leu|994/1630|831/1449|277/482||,T|synonymous_variant|LOW|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding|7/10|c.831G>A|p.Leu277Leu|982/1614|831/1449|277/482||,T|synonymous_variant|LOW|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding|6/9|c.732G>A|p.Leu244Leu|829/1432|732/1335|244/444||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|TYMP|ENSG00000025708|repeat:R-V-A-A-A-L-X_5_6_-L-G-R|ENST00000395681|protein_coding|7/10|c.831G>A||||||,T|sequence_feature|LOW|TYMP|ENSG00000025708|repeat:R-V-A-A-A-L-X_5_6_-L-G-R|ENST00000395680|protein_coding|7/10|c.831G>A||||||,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.-177G>A|||||1069|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.-149G>A|||||1067|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.-159G>A|||||528|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.-208G>A|||||234|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.-159G>A|||||528|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.-208G>A|||||234|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding||c.*1899C>T|||||3201|,T|downstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.*855C>T|||||1893|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding||c.*916G>A|||||3768|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding||c.*1940C>T|||||3201|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding||c.*1864C>T|||||3201|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539C>T|||||4255|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069C>T|||||4104|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.*425C>T|||||3202|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049G>A|||||1119|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron||n.*1722G>A|||||3037|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding||c.*836G>A|||||3736|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding||c.*899G>A|||||3736|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding||c.*589G>A|||||3753|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding||c.*762G>A|||||3807|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron||n.*753G>A|||||3866|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron||n.*636G>A|||||3965|,T|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron|6/9|n.1118G>A||||||,T|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron|6/8|n.837G>A|||||| 22 50965559 . A T . . ANN=T|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395681|protein_coding|6/10|c.765+35T>A||||||,T|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395681|protein_coding|7/10|c.765+35T>A||||||,T|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395680|protein_coding|6/10|c.765+35T>A||||||,T|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395680|protein_coding|7/10|c.765+35T>A||||||,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.-177T>A|||||1526|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.-149T>A|||||1524|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.-159T>A|||||985|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.-208T>A|||||691|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.-159T>A|||||985|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.-208T>A|||||691|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding||c.*1899A>T|||||3658|,T|downstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.*855A>T|||||2350|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding||c.*916T>A|||||3311|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding||c.*1940A>T|||||3658|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding||c.*1864A>T|||||3658|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539A>T|||||4712|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069A>T|||||4561|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.*425A>T|||||3659|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049T>A|||||662|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron||n.*1722T>A|||||2580|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding||c.*836T>A|||||3279|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding||c.*899T>A|||||3279|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding||c.*589T>A|||||3296|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding||c.*762T>A|||||3350|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron||n.*753T>A|||||3409|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron||n.*636T>A|||||3508|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000437588|protein_coding||c.*276T>A|||||4615|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding|6/9|c.765+35T>A||||||,T|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding|6/9|c.765+35T>A||||||,T|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding|6/9|c.765+35T>A||||||,T|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron|5/8|n.1052+35T>A||||||,T|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding|6/9|c.765+35T>A||||||,T|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron|5/7|n.772-392T>A||||||,T|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding|5/8|c.666+35T>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 50965624 . C T . . ANN=T|synonymous_variant|LOW|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding|6/10|c.735G>A|p.Gln245Gln|857/1604|735/1464|245/487||,T|synonymous_variant|LOW|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding|6/10|c.735G>A|p.Gln245Gln|876/1608|735/1449|245/482||,T|synonymous_variant|LOW|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding|6/10|c.735G>A|p.Gln245Gln|898/1630|735/1449|245/482||,T|synonymous_variant|LOW|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding|6/10|c.735G>A|p.Gln245Gln|886/1614|735/1449|245/482||,T|synonymous_variant|LOW|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding|5/9|c.636G>A|p.Gln212Gln|733/1432|636/1335|212/444||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395681|protein_coding|6/10|c.735G>A||||||,T|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395681|protein_coding|7/10|c.735G>A||||||,T|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395680|protein_coding|6/10|c.735G>A||||||,T|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395680|protein_coding|7/10|c.735G>A||||||,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.-177G>A|||||1591|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.-149G>A|||||1589|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.-159G>A|||||1050|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.-208G>A|||||756|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.-159G>A|||||1050|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.-208G>A|||||756|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding||c.*1899C>T|||||3723|,T|downstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.*855C>T|||||2415|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding||c.*916G>A|||||3246|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding||c.*1940C>T|||||3723|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding||c.*1864C>T|||||3723|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539C>T|||||4777|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069C>T|||||4626|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.*425C>T|||||3724|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049G>A|||||597|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron||n.*1722G>A|||||2515|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding||c.*836G>A|||||3214|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding||c.*899G>A|||||3214|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding||c.*589G>A|||||3231|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding||c.*762G>A|||||3285|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron||n.*753G>A|||||3344|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron||n.*636G>A|||||3443|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000437588|protein_coding||c.*276G>A|||||4550|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron|5/7|n.771+393G>A||||||,T|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron|5/9|n.1022G>A|||||| 22 50965724 . G A . . ANN=A|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395681|protein_coding|6/10|c.647-12C>T||||||,A|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395681|protein_coding|5/10|c.647-12C>T||||||,A|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395680|protein_coding|6/10|c.647-12C>T||||||,A|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395680|protein_coding|5/10|c.647-12C>T||||||,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.-177C>T|||||1691|,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.-149C>T|||||1689|,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.-159C>T|||||1150|,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.-208C>T|||||856|,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.-159C>T|||||1150|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.-208C>T|||||856|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding||c.*1899G>A|||||3823|,A|downstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.*855G>A|||||2515|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding||c.*916C>T|||||3146|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding||c.*1940G>A|||||3823|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding||c.*1864G>A|||||3823|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539G>A|||||4877|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069G>A|||||4726|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.*425G>A|||||3824|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049C>T|||||497|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron||n.*1722C>T|||||2415|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding||c.*836C>T|||||3114|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding||c.*899C>T|||||3114|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding||c.*589C>T|||||3131|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding||c.*762C>T|||||3185|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron||n.*753C>T|||||3244|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron||n.*636C>T|||||3343|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000437588|protein_coding||c.*276C>T|||||4450|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding|5/9|c.647-12C>T||||||,A|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding|5/9|c.647-12C>T||||||,A|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding|5/9|c.647-12C>T||||||,A|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron|4/8|n.934-12C>T||||||,A|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding|5/9|c.647-12C>T||||||,A|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron|5/7|n.771+293C>T||||||,A|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding|4/8|c.548-12C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 50966051 . C T . . ANN=T|synonymous_variant|LOW|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding|5/10|c.612G>A|p.Val204Val|734/1604|612/1464|204/487||,T|synonymous_variant|LOW|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding|5/10|c.612G>A|p.Val204Val|753/1608|612/1449|204/482||,T|synonymous_variant|LOW|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding|5/10|c.612G>A|p.Val204Val|775/1630|612/1449|204/482||,T|synonymous_variant|LOW|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding|5/10|c.612G>A|p.Val204Val|763/1614|612/1449|204/482||,T|synonymous_variant|LOW|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding|4/9|c.513G>A|p.Val171Val|610/1432|513/1335|171/444||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395681|protein_coding|5/10|c.612G>A||||||,T|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395680|protein_coding|5/10|c.612G>A||||||,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.-177G>A|||||2018|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.-149G>A|||||2016|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.-159G>A|||||1477|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.-208G>A|||||1183|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.-159G>A|||||1477|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.-208G>A|||||1183|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding||c.*1899C>T|||||4150|,T|downstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.*855C>T|||||2842|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding||c.*916G>A|||||2819|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding||c.*1940C>T|||||4150|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding||c.*1864C>T|||||4150|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.*425C>T|||||4151|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049G>A|||||170|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron||n.*1722G>A|||||2088|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding||c.*836G>A|||||2787|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding||c.*899G>A|||||2787|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding||c.*589G>A|||||2804|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding||c.*762G>A|||||2858|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron||n.*753G>A|||||2917|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron||n.*636G>A|||||3016|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000437588|protein_coding||c.*276G>A|||||4123|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron|4/9|n.899G>A||||||,T|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron|5/8|n.737G>A|||||| 22 50966144 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding|5/10|c.519G>A|p.Met173Ile|641/1604|519/1464|173/487||,T|missense_variant&splice_region_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding|5/10|c.519G>A|p.Met173Ile|660/1608|519/1449|173/482||,T|missense_variant&splice_region_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding|5/10|c.519G>A|p.Met173Ile|682/1630|519/1449|173/482||,T|missense_variant&splice_region_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding|5/10|c.519G>A|p.Met173Ile|670/1614|519/1449|173/482||,T|missense_variant&splice_region_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding|4/9|c.420G>A|p.Met140Ile|517/1432|420/1335|140/444||WARNING_TRANSCRIPT_NO_STOP_CODON,T|splice_region_variant&non_coding_exon_variant|LOW|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron|4/9|n.806G>A||||||,T|splice_region_variant&non_coding_exon_variant|LOW|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron|5/8|n.644G>A||||||,T|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395681|protein_coding|4/10|c.519G>A||||||,T|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395681|protein_coding|5/10|c.519G>A||||||,T|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395680|protein_coding|4/10|c.519G>A||||||,T|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395680|protein_coding|5/10|c.519G>A||||||,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.-177G>A|||||2111|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.-149G>A|||||2109|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.-159G>A|||||1570|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.-208G>A|||||1276|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.-159G>A|||||1570|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.-208G>A|||||1276|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding||c.*1899C>T|||||4243|,T|downstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.*855C>T|||||2935|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding||c.*916G>A|||||2726|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding||c.*1940C>T|||||4243|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding||c.*1864C>T|||||4243|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.*425C>T|||||4244|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049G>A|||||77|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron||n.*1722G>A|||||1995|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding||c.*836G>A|||||2694|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding||c.*899G>A|||||2694|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding||c.*589G>A|||||2711|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding||c.*762G>A|||||2765|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron||n.*753G>A|||||2824|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron||n.*636G>A|||||2923|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000437588|protein_coding||c.*276G>A|||||4030|WARNING_TRANSCRIPT_NO_STOP_CODON 22 50966173 . G A . . ANN=A|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395681|protein_coding|4/10|c.517-27C>T||||||,A|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395681|protein_coding|5/10|c.517-27C>T||||||,A|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395680|protein_coding|4/10|c.517-27C>T||||||,A|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395680|protein_coding|5/10|c.517-27C>T||||||,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.-177C>T|||||2140|,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.-149C>T|||||2138|,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.-159C>T|||||1599|,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.-208C>T|||||1305|,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.-159C>T|||||1599|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.-208C>T|||||1305|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding||c.*1899G>A|||||4272|,A|downstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.*855G>A|||||2964|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding||c.*916C>T|||||2697|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding||c.*1940G>A|||||4272|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding||c.*1864G>A|||||4272|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.*425G>A|||||4273|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049C>T|||||48|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron||n.*1722C>T|||||1966|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding||c.*836C>T|||||2665|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding||c.*899C>T|||||2665|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding||c.*589C>T|||||2682|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding||c.*762C>T|||||2736|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron||n.*753C>T|||||2795|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron||n.*636C>T|||||2894|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000437588|protein_coding||c.*276C>T|||||4001|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding|4/9|c.517-27C>T||||||,A|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding|4/9|c.517-27C>T||||||,A|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding|4/9|c.517-27C>T||||||,A|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron|3/8|n.804-27C>T||||||,A|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding|4/9|c.517-27C>T||||||,A|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron|4/7|n.642-27C>T||||||,A|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding|3/8|c.418-27C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 50966184 . A G . . ANN=G|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395681|protein_coding|4/10|c.517-38T>C||||||,G|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395681|protein_coding|5/10|c.517-38T>C||||||,G|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395680|protein_coding|4/10|c.517-38T>C||||||,G|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395680|protein_coding|5/10|c.517-38T>C||||||,G|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.-177T>C|||||2151|,G|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.-149T>C|||||2149|,G|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.-159T>C|||||1610|,G|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.-208T>C|||||1316|,G|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.-159T>C|||||1610|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.-208T>C|||||1316|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding||c.*1899A>G|||||4283|,G|downstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.*855A>G|||||2975|,G|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding||c.*916T>C|||||2686|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding||c.*1940A>G|||||4283|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding||c.*1864A>G|||||4283|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.*425A>G|||||4284|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049T>C|||||37|,G|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron||n.*1722T>C|||||1955|,G|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding||c.*836T>C|||||2654|,G|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding||c.*899T>C|||||2654|,G|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding||c.*589T>C|||||2671|,G|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding||c.*762T>C|||||2725|,G|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron||n.*753T>C|||||2784|,G|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron||n.*636T>C|||||2883|,G|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000437588|protein_coding||c.*276T>C|||||3990|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding|4/9|c.517-38T>C||||||,G|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding|4/9|c.517-38T>C||||||,G|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding|4/9|c.517-38T>C||||||,G|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron|3/8|n.804-38T>C||||||,G|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding|4/9|c.517-38T>C||||||,G|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron|4/7|n.642-38T>C||||||,G|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding|3/8|c.418-38T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 50966908 . C G . . ANN=G|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395681|protein_coding|4/10|c.516+33G>C||||||,G|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395681|protein_coding|5/10|c.516+33G>C||||||,G|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395680|protein_coding|4/10|c.516+33G>C||||||,G|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395680|protein_coding|5/10|c.516+33G>C||||||,G|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.-177G>C|||||2875|,G|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.-149G>C|||||2873|,G|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.-159G>C|||||2334|,G|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.-208G>C|||||2040|,G|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.-159G>C|||||2334|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.-208G>C|||||2040|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.*855C>G|||||3699|,G|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding||c.*916G>C|||||1962|,G|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron||n.*1722G>C|||||1231|,G|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding||c.*836G>C|||||1930|,G|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding||c.*899G>C|||||1930|,G|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding||c.*589G>C|||||1947|,G|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding||c.*762G>C|||||2001|,G|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron||n.*753G>C|||||2060|,G|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron||n.*636G>C|||||2159|,G|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000437588|protein_coding||c.*276G>C|||||3266|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding|4/9|c.516+33G>C||||||,G|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding|4/9|c.516+33G>C||||||,G|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding|4/9|c.516+33G>C||||||,G|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron|3/8|n.803+33G>C||||||,G|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding|4/9|c.516+33G>C||||||,G|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron|4/7|n.641+33G>C||||||,G|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding|3/8|c.417+657G>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron|2/2|n.1362G>C|||||| 22 50966914 . T C . . ANN=C|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395681|protein_coding|4/10|c.516+27A>G||||||,C|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395681|protein_coding|5/10|c.516+27A>G||||||,C|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395680|protein_coding|4/10|c.516+27A>G||||||,C|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395680|protein_coding|5/10|c.516+27A>G||||||,C|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.-177A>G|||||2881|,C|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.-149A>G|||||2879|,C|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.-159A>G|||||2340|,C|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.-208A>G|||||2046|,C|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.-159A>G|||||2340|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.-208A>G|||||2046|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.*855T>C|||||3705|,C|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding||c.*916A>G|||||1956|,C|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron||n.*1722A>G|||||1225|,C|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding||c.*836A>G|||||1924|,C|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding||c.*899A>G|||||1924|,C|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding||c.*589A>G|||||1941|,C|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding||c.*762A>G|||||1995|,C|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron||n.*753A>G|||||2054|,C|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron||n.*636A>G|||||2153|,C|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000437588|protein_coding||c.*276A>G|||||3260|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding|4/9|c.516+27A>G||||||,C|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding|4/9|c.516+27A>G||||||,C|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding|4/9|c.516+27A>G||||||,C|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron|3/8|n.803+27A>G||||||,C|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding|4/9|c.516+27A>G||||||,C|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron|4/7|n.641+27A>G||||||,C|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding|3/8|c.417+651A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron|2/2|n.1356A>G|||||| 22 50966932 . G A . . ANN=A|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395681|protein_coding|4/10|c.516+9C>T||||||,A|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395681|protein_coding|5/10|c.516+9C>T||||||,A|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395680|protein_coding|4/10|c.516+9C>T||||||,A|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395680|protein_coding|5/10|c.516+9C>T||||||,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.-177C>T|||||2899|,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.-149C>T|||||2897|,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.-159C>T|||||2358|,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.-208C>T|||||2064|,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.-159C>T|||||2358|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.-208C>T|||||2064|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.*855G>A|||||3723|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding||c.*916C>T|||||1938|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron||n.*1722C>T|||||1207|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding||c.*836C>T|||||1906|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding||c.*899C>T|||||1906|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding||c.*589C>T|||||1923|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding||c.*762C>T|||||1977|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron||n.*753C>T|||||2036|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron||n.*636C>T|||||2135|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000437588|protein_coding||c.*276C>T|||||3242|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding|4/9|c.516+9C>T||||||,A|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding|4/9|c.516+9C>T||||||,A|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding|4/9|c.516+9C>T||||||,A|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron|3/8|n.803+9C>T||||||,A|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding|4/9|c.516+9C>T||||||,A|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron|4/7|n.641+9C>T||||||,A|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding|3/8|c.417+633C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron|2/2|n.1338C>T|||||| 22 50967020 . C T . . ANN=T|missense_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding|4/10|c.437G>A|p.Arg146His|559/1604|437/1464|146/487||,T|missense_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding|4/10|c.437G>A|p.Arg146His|578/1608|437/1449|146/482||,T|missense_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding|4/10|c.437G>A|p.Arg146His|600/1630|437/1449|146/482||,T|missense_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding|4/10|c.437G>A|p.Arg146His|588/1614|437/1449|146/482||,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.-177G>A|||||2987|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.-149G>A|||||2985|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.-159G>A|||||2446|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.-208G>A|||||2152|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.-159G>A|||||2446|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.-208G>A|||||2152|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.*855C>T|||||3811|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding||c.*916G>A|||||1850|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron||n.*1722G>A|||||1119|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding||c.*836G>A|||||1818|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding||c.*899G>A|||||1818|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding||c.*589G>A|||||1835|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding||c.*762G>A|||||1889|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron||n.*753G>A|||||1948|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron||n.*636G>A|||||2047|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000437588|protein_coding||c.*276G>A|||||3154|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding|3/8|c.417+545G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron|3/9|n.724G>A||||||,T|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron|4/8|n.562G>A||||||,T|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron|2/2|n.1250G>A|||||| 22 50967024 . C T . . ANN=T|missense_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding|4/10|c.433G>A|p.Gly145Arg|555/1604|433/1464|145/487||,T|missense_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding|4/10|c.433G>A|p.Gly145Arg|574/1608|433/1449|145/482||,T|missense_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding|4/10|c.433G>A|p.Gly145Arg|596/1630|433/1449|145/482||,T|missense_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding|4/10|c.433G>A|p.Gly145Arg|584/1614|433/1449|145/482||,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.-177G>A|||||2991|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.-149G>A|||||2989|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.-159G>A|||||2450|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.-208G>A|||||2156|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.-159G>A|||||2450|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.-208G>A|||||2156|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.*855C>T|||||3815|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding||c.*916G>A|||||1846|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron||n.*1722G>A|||||1115|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding||c.*836G>A|||||1814|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding||c.*899G>A|||||1814|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding||c.*589G>A|||||1831|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding||c.*762G>A|||||1885|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron||n.*753G>A|||||1944|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron||n.*636G>A|||||2043|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000437588|protein_coding||c.*276G>A|||||3150|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding|3/8|c.417+541G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron|3/9|n.720G>A||||||,T|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron|4/8|n.558G>A||||||,T|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron|2/2|n.1246G>A|||||| 22 50967538 . C G . . ANN=G|sequence_feature|LOW|TYMP|ENSG00000025708|beta_strand|ENST00000395681|protein_coding|3/10|c.417+27G>C||||||,G|sequence_feature|LOW|TYMP|ENSG00000025708|beta_strand|ENST00000395681|protein_coding|4/10|c.417+27G>C||||||,G|sequence_feature|LOW|TYMP|ENSG00000025708|beta_strand|ENST00000395680|protein_coding|3/10|c.417+27G>C||||||,G|sequence_feature|LOW|TYMP|ENSG00000025708|beta_strand|ENST00000395680|protein_coding|4/10|c.417+27G>C||||||,G|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.-177G>C|||||3505|,G|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.-149G>C|||||3503|,G|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.-159G>C|||||2964|,G|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.-208G>C|||||2670|,G|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.-159G>C|||||2964|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.-208G>C|||||2670|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.*855C>G|||||4329|,G|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding||c.*916G>C|||||1332|,G|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron||n.*1722G>C|||||601|,G|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding||c.*836G>C|||||1300|,G|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding||c.*899G>C|||||1300|,G|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding||c.*589G>C|||||1317|,G|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding||c.*762G>C|||||1371|,G|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron||n.*753G>C|||||1430|,G|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron||n.*636G>C|||||1529|,G|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000437588|protein_coding||c.*276G>C|||||2636|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding|3/9|c.417+27G>C||||||,G|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding|3/9|c.417+27G>C||||||,G|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding|3/9|c.417+27G>C||||||,G|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron|2/8|n.704+27G>C||||||,G|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding|3/9|c.417+27G>C||||||,G|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron|3/7|n.542+27G>C||||||,G|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding|3/8|c.417+27G>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron|2/2|n.732G>C|||||| 22 50967540 . G A . . ANN=A|sequence_feature|LOW|TYMP|ENSG00000025708|beta_strand|ENST00000395681|protein_coding|3/10|c.417+25C>T||||||,A|sequence_feature|LOW|TYMP|ENSG00000025708|beta_strand|ENST00000395681|protein_coding|4/10|c.417+25C>T||||||,A|sequence_feature|LOW|TYMP|ENSG00000025708|beta_strand|ENST00000395680|protein_coding|3/10|c.417+25C>T||||||,A|sequence_feature|LOW|TYMP|ENSG00000025708|beta_strand|ENST00000395680|protein_coding|4/10|c.417+25C>T||||||,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.-177C>T|||||3507|,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.-149C>T|||||3505|,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.-159C>T|||||2966|,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.-208C>T|||||2672|,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.-159C>T|||||2966|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.-208C>T|||||2672|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.*855G>A|||||4331|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding||c.*916C>T|||||1330|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron||n.*1722C>T|||||599|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding||c.*836C>T|||||1298|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding||c.*899C>T|||||1298|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding||c.*589C>T|||||1315|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding||c.*762C>T|||||1369|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron||n.*753C>T|||||1428|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron||n.*636C>T|||||1527|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000437588|protein_coding||c.*276C>T|||||2634|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding|3/9|c.417+25C>T||||||,A|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding|3/9|c.417+25C>T||||||,A|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding|3/9|c.417+25C>T||||||,A|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron|2/8|n.704+25C>T||||||,A|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding|3/9|c.417+25C>T||||||,A|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron|3/7|n.542+25C>T||||||,A|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding|3/8|c.417+25C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron|2/2|n.730C>T|||||| 22 50967666 . C G . . ANN=G|missense_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding|3/10|c.316G>C|p.Glu106Gln|438/1604|316/1464|106/487||,G|missense_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding|3/10|c.316G>C|p.Glu106Gln|457/1608|316/1449|106/482||,G|missense_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding|3/10|c.316G>C|p.Glu106Gln|479/1630|316/1449|106/482||,G|missense_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding|3/10|c.316G>C|p.Glu106Gln|467/1614|316/1449|106/482||,G|missense_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding|3/9|c.316G>C|p.Glu106Gln|413/1432|316/1335|106/444||WARNING_TRANSCRIPT_NO_STOP_CODON,G|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395681|protein_coding|3/10|c.316G>C||||||,G|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395680|protein_coding|3/10|c.316G>C||||||,G|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.-177G>C|||||3633|,G|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.-149G>C|||||3631|,G|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.-159G>C|||||3092|,G|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.-208G>C|||||2798|,G|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.-159G>C|||||3092|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.-208G>C|||||2798|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.*855C>G|||||4457|,G|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding||c.*916G>C|||||1204|,G|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron||n.*1722G>C|||||473|,G|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding||c.*836G>C|||||1172|,G|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding||c.*899G>C|||||1172|,G|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding||c.*589G>C|||||1189|,G|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding||c.*762G>C|||||1243|,G|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron||n.*753G>C|||||1302|,G|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron||n.*636G>C|||||1401|,G|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000437588|protein_coding||c.*276G>C|||||2508|WARNING_TRANSCRIPT_NO_STOP_CODON,G|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron|2/9|n.603G>C||||||,G|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron|3/8|n.441G>C||||||,G|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron|2/2|n.604G>C|||||| 22 50967740 . C T . . ANN=T|missense_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding|3/10|c.242G>A|p.Arg81Gln|364/1604|242/1464|81/487||,T|missense_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding|3/10|c.242G>A|p.Arg81Gln|383/1608|242/1449|81/482||,T|missense_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding|3/10|c.242G>A|p.Arg81Gln|405/1630|242/1449|81/482||,T|missense_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding|3/10|c.242G>A|p.Arg81Gln|393/1614|242/1449|81/482||,T|missense_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding|3/9|c.242G>A|p.Arg81Gln|339/1432|242/1335|81/444||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395681|protein_coding|3/10|c.242G>A||||||,T|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395681|protein_coding|2/10|c.242G>A||||||,T|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395680|protein_coding|3/10|c.242G>A||||||,T|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395680|protein_coding|2/10|c.242G>A||||||,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.-177G>A|||||3707|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.-149G>A|||||3705|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.-159G>A|||||3166|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.-208G>A|||||2872|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.-159G>A|||||3166|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.-208G>A|||||2872|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.*855C>T|||||4531|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding||c.*916G>A|||||1130|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron||n.*1722G>A|||||399|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding||c.*836G>A|||||1098|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding||c.*899G>A|||||1098|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding||c.*589G>A|||||1115|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding||c.*762G>A|||||1169|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron||n.*753G>A|||||1228|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron||n.*636G>A|||||1327|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000437588|protein_coding||c.*276G>A|||||2434|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron|2/9|n.529G>A||||||,T|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron|3/8|n.367G>A||||||,T|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron|2/2|n.530G>A|||||| 22 50967801 . C T . . ANN=T|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395681|protein_coding|3/10|c.215-34G>A||||||,T|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395681|protein_coding|2/10|c.215-34G>A||||||,T|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395680|protein_coding|3/10|c.215-34G>A||||||,T|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395680|protein_coding|2/10|c.215-34G>A||||||,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.-177G>A|||||3768|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.-149G>A|||||3766|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.-159G>A|||||3227|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.-208G>A|||||2933|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.-159G>A|||||3227|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.-208G>A|||||2933|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.*855C>T|||||4592|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding||c.*916G>A|||||1069|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron||n.*1722G>A|||||338|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding||c.*836G>A|||||1037|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding||c.*899G>A|||||1037|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding||c.*589G>A|||||1054|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding||c.*762G>A|||||1108|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron||n.*753G>A|||||1167|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron||n.*636G>A|||||1266|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000437588|protein_coding||c.*276G>A|||||2373|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding|2/9|c.215-34G>A||||||,T|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding|2/9|c.215-34G>A||||||,T|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding|2/9|c.215-34G>A||||||,T|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron|1/8|n.502-34G>A||||||,T|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding|2/9|c.215-34G>A||||||,T|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron|2/7|n.340-34G>A||||||,T|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding|2/8|c.215-34G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron|2/2|n.469G>A|||||| 22 50967905 . G A . . ANN=A|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395681|protein_coding|3/10|c.214+20C>T||||||,A|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395681|protein_coding|2/10|c.214+20C>T||||||,A|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395680|protein_coding|3/10|c.214+20C>T||||||,A|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395680|protein_coding|2/10|c.214+20C>T||||||,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.-177C>T|||||3872|,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.-149C>T|||||3870|,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.-159C>T|||||3331|,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.-208C>T|||||3037|,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.-159C>T|||||3331|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.-208C>T|||||3037|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.*855G>A|||||4696|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding||c.*916C>T|||||965|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron||n.*1722C>T|||||234|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding||c.*836C>T|||||933|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding||c.*899C>T|||||933|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding||c.*589C>T|||||950|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding||c.*762C>T|||||1004|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron||n.*753C>T|||||1063|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron||n.*636C>T|||||1162|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000437588|protein_coding||c.*276C>T|||||2269|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding|2/9|c.214+20C>T||||||,A|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding|2/9|c.214+20C>T||||||,A|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding|2/9|c.214+20C>T||||||,A|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron|1/8|n.501+20C>T||||||,A|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding|2/9|c.214+20C>T||||||,A|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron|2/7|n.339+20C>T||||||,A|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding|2/8|c.214+20C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron|2/2|n.365C>T|||||| 22 50967912 . C T . . ANN=T|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395681|protein_coding|3/10|c.214+13G>A||||||,T|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395681|protein_coding|2/10|c.214+13G>A||||||,T|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395680|protein_coding|3/10|c.214+13G>A||||||,T|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395680|protein_coding|2/10|c.214+13G>A||||||,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.-177G>A|||||3879|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.-149G>A|||||3877|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.-159G>A|||||3338|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.-208G>A|||||3044|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.-159G>A|||||3338|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.-208G>A|||||3044|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.*855C>T|||||4703|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding||c.*916G>A|||||958|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron||n.*1722G>A|||||227|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding||c.*836G>A|||||926|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding||c.*899G>A|||||926|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding||c.*589G>A|||||943|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding||c.*762G>A|||||997|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron||n.*753G>A|||||1056|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron||n.*636G>A|||||1155|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000437588|protein_coding||c.*276G>A|||||2262|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding|2/9|c.214+13G>A||||||,T|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding|2/9|c.214+13G>A||||||,T|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding|2/9|c.214+13G>A||||||,T|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron|1/8|n.501+13G>A||||||,T|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding|2/9|c.214+13G>A||||||,T|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron|2/7|n.339+13G>A||||||,T|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding|2/8|c.214+13G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron|2/2|n.358G>A|||||| 22 50967913 . C T . . ANN=T|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395681|protein_coding|3/10|c.214+12G>A||||||,T|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395681|protein_coding|2/10|c.214+12G>A||||||,T|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395680|protein_coding|3/10|c.214+12G>A||||||,T|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395680|protein_coding|2/10|c.214+12G>A||||||,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.-177G>A|||||3880|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.-149G>A|||||3878|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.-159G>A|||||3339|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.-208G>A|||||3045|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.-159G>A|||||3339|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.-208G>A|||||3045|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.*855C>T|||||4704|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding||c.*916G>A|||||957|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron||n.*1722G>A|||||226|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding||c.*836G>A|||||925|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding||c.*899G>A|||||925|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding||c.*589G>A|||||942|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding||c.*762G>A|||||996|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron||n.*753G>A|||||1055|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron||n.*636G>A|||||1154|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000437588|protein_coding||c.*276G>A|||||2261|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding|2/9|c.214+12G>A||||||,T|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding|2/9|c.214+12G>A||||||,T|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding|2/9|c.214+12G>A||||||,T|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron|1/8|n.501+12G>A||||||,T|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding|2/9|c.214+12G>A||||||,T|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron|2/7|n.339+12G>A||||||,T|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding|2/8|c.214+12G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron|2/2|n.357G>A|||||| 22 50967935 . G A . . ANN=A|synonymous_variant|LOW|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding|2/10|c.204C>T|p.Gly68Gly|326/1604|204/1464|68/487||,A|synonymous_variant|LOW|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding|2/10|c.204C>T|p.Gly68Gly|345/1608|204/1449|68/482||,A|synonymous_variant|LOW|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding|2/10|c.204C>T|p.Gly68Gly|367/1630|204/1449|68/482||,A|synonymous_variant|LOW|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding|2/10|c.204C>T|p.Gly68Gly|355/1614|204/1449|68/482||,A|synonymous_variant|LOW|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding|2/9|c.204C>T|p.Gly68Gly|301/1432|204/1335|68/444||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395681|protein_coding|3/10|c.204C>T||||||,A|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395681|protein_coding|2/10|c.204C>T||||||,A|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395680|protein_coding|3/10|c.204C>T||||||,A|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395680|protein_coding|2/10|c.204C>T||||||,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.-177C>T|||||3902|,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.-149C>T|||||3900|,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.-159C>T|||||3361|,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.-208C>T|||||3067|,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.-159C>T|||||3361|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.-208C>T|||||3067|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.*855G>A|||||4726|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding||c.*916C>T|||||935|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron||n.*1722C>T|||||204|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding||c.*836C>T|||||903|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding||c.*899C>T|||||903|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding||c.*589C>T|||||920|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding||c.*762C>T|||||974|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron||n.*753C>T|||||1033|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron||n.*636C>T|||||1132|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000437588|protein_coding||c.*276C>T|||||2239|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron|1/9|n.491C>T||||||,A|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron|2/8|n.329C>T||||||,A|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron|2/2|n.335C>T|||||| 22 50968184 . C A . . ANN=A|splice_acceptor_variant&intron_variant|HIGH|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding|1/9|c.-45-1G>T||||||,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.-177G>T|||||4151|,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.-149G>T|||||4149|,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.-159G>T|||||3610|,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.-208G>T|||||3316|,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.-159G>T|||||3610|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.-208G>T|||||3316|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.*855C>A|||||4975|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding||c.*916G>T|||||686|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding||c.*836G>T|||||654|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding||c.*899G>T|||||654|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding||c.*589G>T|||||671|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding||c.*762G>T|||||725|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron||n.*753G>T|||||784|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron||n.*636G>T|||||883|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000437588|protein_coding||c.*276G>T|||||1990|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding|1/9|c.-10-36G>T||||||,A|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding|1/9|c.-10-36G>T||||||,A|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding|1/9|c.-22-24G>T||||||,A|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron|1/7|n.116-36G>T||||||,A|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding|1/8|c.-10-36G>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron|1/1|n.110-24G>T||||||,A|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron|1/9|n.242G>T||||||,A|non_coding_exon_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron|4/4|n.1677G>T||||||;LOF=(TYMP|ENSG00000025708|8|0.13) 22 50969312 . C T . . ANN=T|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.-123G>A|||||868|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.-159G>A|||||4738|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.-208G>A|||||4444|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.-159G>A|||||4738|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.-208G>A|||||4444|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.-142G>A|||||884|,T|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.-164G>A|||||827|,T|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.-1G>A|||||887|,T|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.-152G>A|||||851|,T|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.-1G>A|||||865|,T|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.-98G>A|||||893|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.-1G>A|||||871|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000437588|protein_coding||c.*276G>A|||||862|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding|4/5|c.587-31G>A||||||,T|intron_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron|2/3|n.754+54G>A||||||,T|intron_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding|4/5|c.470-31G>A||||||,T|intron_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding|5/6|c.541-31G>A||||||,T|intron_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding|3/4|c.337-31G>A||||||,T|intron_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding|4/5|c.541-31G>A||||||,T|non_coding_exon_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron|2/2|n.409G>A||||||,T|non_coding_exon_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron|3/3|n.391G>A|||||| 22 50969352 . G T . . ANN=T|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.-123C>A|||||908|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.-159C>A|||||4778|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.-208C>A|||||4484|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.-159C>A|||||4778|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.-208C>A|||||4484|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.-142C>A|||||924|,T|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.-164C>A|||||867|,T|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.-1C>A|||||927|,T|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.-152C>A|||||891|,T|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.-1C>A|||||905|,T|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.-98C>A|||||933|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.-1C>A|||||911|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000437588|protein_coding||c.*276C>A|||||822|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding|4/5|c.586+14C>A||||||,T|intron_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron|2/3|n.754+14C>A||||||,T|intron_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding|4/5|c.469+14C>A||||||,T|intron_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding|5/6|c.540+14C>A||||||,T|intron_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding|3/4|c.336+14C>A||||||,T|intron_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding|4/5|c.540+14C>A||||||,T|non_coding_exon_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron|2/2|n.369C>A||||||,T|non_coding_exon_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron|3/3|n.351C>A|||||| 22 50969450 . C T . . ANN=T|missense_variant|MODERATE|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding|4/6|c.502G>A|p.Ala168Thr|572/917|502/846|168/281||,T|missense_variant|MODERATE|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding|4/6|c.385G>A|p.Ala129Thr|492/869|385/729|129/242||,T|synonymous_variant|LOW|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding|5/7|c.456G>A|p.Pro152Pro|593/970|456/762|152/253||,T|synonymous_variant|LOW|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding|3/5|c.252G>A|p.Pro84Pro|283/643|252/558|84/185||,T|synonymous_variant|LOW|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding|4/6|c.456G>A|p.Pro152Pro|456/762|456/762|152/253||,T|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.-123G>A|||||1006|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.-159G>A|||||4876|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.-208G>A|||||4582|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.-159G>A|||||4876|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.-208G>A|||||4582|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.-142G>A|||||1022|,T|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.-164G>A|||||965|,T|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.-1G>A|||||1025|,T|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.-152G>A|||||989|,T|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.-1G>A|||||1003|,T|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.-98G>A|||||1031|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.-1G>A|||||1009|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000437588|protein_coding||c.*276G>A|||||724|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron|2/4|n.670G>A||||||,T|non_coding_exon_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron|2/2|n.271G>A||||||,T|non_coding_exon_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron|3/3|n.253G>A|||||| 22 50969647 . C G . . ANN=G|missense_variant|MODERATE|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding|3/6|c.437G>C|p.Gly146Ala|507/917|437/846|146/281||,G|missense_variant|MODERATE|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding|3/6|c.320G>C|p.Gly107Ala|427/869|320/729|107/242||,G|missense_variant|MODERATE|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding|4/7|c.391G>C|p.Gly131Arg|528/970|391/762|131/253||,G|missense_variant|MODERATE|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding|2/5|c.187G>C|p.Gly63Arg|218/643|187/558|63/185||,G|missense_variant|MODERATE|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding|3/6|c.391G>C|p.Gly131Arg|391/762|391/762|131/253||,G|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.-123G>C|||||1203|,G|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.-208G>C|||||4779|,G|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.-208G>C|||||4779|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.-142G>C|||||1219|,G|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.-164G>C|||||1162|,G|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.-1G>C|||||1222|,G|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.-152G>C|||||1186|,G|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.-1G>C|||||1200|,G|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.-98G>C|||||1228|WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.-1G>C|||||1206|,G|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000437588|protein_coding||c.*276G>C|||||527|WARNING_TRANSCRIPT_NO_STOP_CODON,G|non_coding_exon_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron|1/4|n.605G>C||||||,G|non_coding_exon_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron|1/2|n.206G>C||||||,G|non_coding_exon_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron|2/3|n.188G>C|||||| 22 50969752 . G C . . ANN=C|missense_variant|MODERATE|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding|3/6|c.332C>G|p.Ala111Gly|402/917|332/846|111/281||,C|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.-123C>G|||||1308|,C|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.-208C>G|||||4884|,C|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.-208C>G|||||4884|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.-142C>G|||||1324|,C|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.-164C>G|||||1267|,C|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.-1C>G|||||1327|,C|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.-152C>G|||||1291|,C|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.-1C>G|||||1305|,C|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.-98C>G|||||1333|WARNING_TRANSCRIPT_NO_STOP_CODON,C|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.-1C>G|||||1311|,C|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000437588|protein_coding||c.*276C>G|||||422|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding|2/5|c.243-28C>G||||||,C|intron_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding|3/6|c.314-28C>G||||||,C|intron_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding|1/4|c.110-28C>G||||||,C|intron_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding|2/5|c.314-28C>G||||||,C|intron_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron|1/2|n.111-28C>G||||||,C|non_coding_exon_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron|1/4|n.500C>G||||||,C|non_coding_exon_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron|1/2|n.101C>G|||||| 22 50969765 . G A . . ANN=A|missense_variant|MODERATE|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding|3/6|c.319C>T|p.His107Tyr|389/917|319/846|107/281||,A|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.-123C>T|||||1321|,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.-208C>T|||||4897|,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.-208C>T|||||4897|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.-142C>T|||||1337|,A|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.-164C>T|||||1280|,A|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.-1C>T|||||1340|,A|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.-152C>T|||||1304|,A|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.-1C>T|||||1318|,A|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.-98C>T|||||1346|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.-1C>T|||||1324|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000437588|protein_coding||c.*276C>T|||||409|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding|2/5|c.243-41C>T||||||,A|intron_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding|3/6|c.314-41C>T||||||,A|intron_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding|1/4|c.110-41C>T||||||,A|intron_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding|2/5|c.314-41C>T||||||,A|intron_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron|1/2|n.111-41C>T||||||,A|non_coding_exon_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron|1/4|n.487C>T||||||,A|non_coding_exon_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron|1/2|n.88C>T|||||| 22 50970068 . C T . . ANN=T|missense_variant|MODERATE|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding|2/6|c.244G>A|p.Asp82Asn|314/917|244/846|82/281||,T|missense_variant|MODERATE|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding|2/6|c.173G>A|p.Arg58Gln|280/869|173/729|58/242||,T|missense_variant|MODERATE|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding|3/7|c.244G>A|p.Asp82Asn|381/970|244/762|82/253||,T|missense_variant|MODERATE|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding|2/6|c.244G>A|p.Asp82Asn|244/762|244/762|82/253||,T|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.-123G>A|||||1624|,T|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.-142G>A|||||1640|,T|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.-164G>A|||||1583|,T|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.-1G>A|||||1643|,T|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.-152G>A|||||1607|,T|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.-1G>A|||||1621|,T|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.-98G>A|||||1649|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.-1G>A|||||1627|,T|upstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron||n.-1G>A|||||216|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000437588|protein_coding||c.*276G>A|||||106|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding|1/4|c.109+330G>A||||||,T|non_coding_exon_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron|1/4|n.184G>A||||||,T|non_coding_exon_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron|1/3|n.41G>A|||||| 22 50970219 . T C . . ANN=C|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.-123A>G|||||1775|,C|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.-142A>G|||||1791|,C|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.-164A>G|||||1734|,C|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.-1A>G|||||1794|,C|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.-152A>G|||||1758|,C|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.-1A>G|||||1772|,C|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.-98A>G|||||1800|WARNING_TRANSCRIPT_NO_STOP_CODON,C|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.-1A>G|||||1778|,C|upstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron||n.-1A>G|||||367|,C|upstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron||n.-1A>G|||||111|,C|intron_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding|1/5|c.110-17A>G||||||,C|intron_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding|1/5|c.110-88A>G||||||,C|intron_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding|2/6|c.110-17A>G||||||,C|intron_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding|1/4|c.109+179A>G||||||,C|intron_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding|1/5|c.110-17A>G||||||,C|intron_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000437588|protein_coding|2/2|c.110-17A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|non_coding_exon_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron|1/4|n.33A>G|||||| 22 50970231 . G C . . ANN=C|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.-123C>G|||||1787|,C|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.-142C>G|||||1803|,C|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.-164C>G|||||1746|,C|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.-1C>G|||||1806|,C|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.-152C>G|||||1770|,C|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.-1C>G|||||1784|,C|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.-98C>G|||||1812|WARNING_TRANSCRIPT_NO_STOP_CODON,C|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.-1C>G|||||1790|,C|upstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron||n.-1C>G|||||379|,C|upstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron||n.-1C>G|||||123|,C|intron_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding|1/5|c.110-29C>G||||||,C|intron_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding|1/5|c.110-100C>G||||||,C|intron_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding|2/6|c.110-29C>G||||||,C|intron_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding|1/4|c.109+167C>G||||||,C|intron_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding|1/5|c.110-29C>G||||||,C|intron_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000437588|protein_coding|2/2|c.110-29C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|non_coding_exon_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron|1/4|n.21C>G|||||| 22 50970354 . C A . . ANN=A|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.-123G>T|||||1910|,A|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.-142G>T|||||1926|,A|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.-164G>T|||||1869|,A|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.-1G>T|||||1929|,A|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.-152G>T|||||1893|,A|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.-1G>T|||||1907|,A|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.-98G>T|||||1935|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.-1G>T|||||1913|,A|upstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron||n.-1G>T|||||103|,A|upstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron||n.-1G>T|||||502|,A|upstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron||n.-1G>T|||||246|,A|intron_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding|1/5|c.109+44G>T||||||,A|intron_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding|1/5|c.109+44G>T||||||,A|intron_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding|2/6|c.109+44G>T||||||,A|intron_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding|1/4|c.109+44G>T||||||,A|intron_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding|1/5|c.109+44G>T||||||,A|intron_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000437588|protein_coding|2/2|c.109+44G>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 22 50970516 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding|1/6|c.-10C>T|||||10|,A|5_prime_UTR_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding|1/6|c.-10C>T|||||10|,A|5_prime_UTR_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding|2/7|c.-10C>T|||||10|,A|5_prime_UTR_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding|1/5|c.-10C>T|||||10|,A|5_prime_UTR_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000437588|protein_coding|2/3|c.-10C>T|||||10|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.-123C>T|||||2072|,A|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.-142C>T|||||2088|,A|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.-164C>T|||||2031|,A|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.-1C>T|||||2091|,A|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.-152C>T|||||2055|,A|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.-1C>T|||||2069|,A|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.-98C>T|||||2097|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.-1C>T|||||2075|,A|upstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron||n.-1C>T|||||265|,A|upstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding||c.-1C>T|||||10|,A|upstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron||n.-1C>T|||||664|,A|upstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron||n.-1C>T|||||408| 22 50970517 . G C . . ANN=C|5_prime_UTR_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding|1/6|c.-11C>G|||||11|,C|5_prime_UTR_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding|1/6|c.-11C>G|||||11|,C|5_prime_UTR_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding|2/7|c.-11C>G|||||11|,C|5_prime_UTR_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding|1/5|c.-11C>G|||||11|,C|5_prime_UTR_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000437588|protein_coding|2/3|c.-11C>G|||||11|WARNING_TRANSCRIPT_NO_STOP_CODON,C|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.-123C>G|||||2073|,C|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.-142C>G|||||2089|,C|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.-164C>G|||||2032|,C|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.-1C>G|||||2092|,C|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.-152C>G|||||2056|,C|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.-1C>G|||||2070|,C|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.-98C>G|||||2098|WARNING_TRANSCRIPT_NO_STOP_CODON,C|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.-1C>G|||||2076|,C|upstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron||n.-1C>G|||||266|,C|upstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding||c.-1C>G|||||11|,C|upstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron||n.-1C>G|||||665|,C|upstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron||n.-1C>G|||||409| 22 50987175 . G T . . ANN=T|missense_variant|MODERATE|KLHDC7B|ENSG00000130487|transcript|ENST00000395676|protein_coding|1/1|c.580G>T|p.Val194Leu|714/2990|580/1785|194/594||,T|downstream_gene_variant|MODIFIER|CTA-384D8.31|ENSG00000226738|transcript|ENST00000434237|antisense||n.*157G>T|||||1094|,T|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000402753|protein_coding||c.*294C>A|||||2451|,T|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000406915|protein_coding||c.*315C>A|||||2366| 22 50987273 . G T . . ANN=T|synonymous_variant|LOW|KLHDC7B|ENSG00000130487|transcript|ENST00000395676|protein_coding|1/1|c.678G>T|p.Val226Val|812/2990|678/1785|226/594||,T|downstream_gene_variant|MODIFIER|CTA-384D8.31|ENSG00000226738|transcript|ENST00000434237|antisense||n.*157G>T|||||1192|,T|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000402753|protein_coding||c.*294C>A|||||2353|,T|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000406915|protein_coding||c.*315C>A|||||2268| 22 50987287 . A G . . ANN=G|missense_variant|MODERATE|KLHDC7B|ENSG00000130487|transcript|ENST00000395676|protein_coding|1/1|c.692A>G|p.Gln231Arg|826/2990|692/1785|231/594||,G|downstream_gene_variant|MODIFIER|CTA-384D8.31|ENSG00000226738|transcript|ENST00000434237|antisense||n.*157A>G|||||1206|,G|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000402753|protein_coding||c.*294T>C|||||2339|,G|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000406915|protein_coding||c.*315T>C|||||2254| 22 50987353 . T C . . ANN=C|missense_variant|MODERATE|KLHDC7B|ENSG00000130487|transcript|ENST00000395676|protein_coding|1/1|c.758T>C|p.Val253Ala|892/2990|758/1785|253/594||,C|downstream_gene_variant|MODIFIER|CTA-384D8.31|ENSG00000226738|transcript|ENST00000434237|antisense||n.*157T>C|||||1272|,C|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000402753|protein_coding||c.*294A>G|||||2273|,C|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000406915|protein_coding||c.*315A>G|||||2188| 22 50987601 . A T . . ANN=T|missense_variant|MODERATE|KLHDC7B|ENSG00000130487|transcript|ENST00000395676|protein_coding|1/1|c.1006A>T|p.Thr336Ser|1140/2990|1006/1785|336/594||,T|sequence_feature|LOW|KLHDC7B|ENSG00000130487|repeat:Kelch_1|ENST00000395676|protein_coding|1/1|c.1006A>T||||||,T|downstream_gene_variant|MODIFIER|CTA-384D8.31|ENSG00000226738|transcript|ENST00000434237|antisense||n.*157A>T|||||1520|,T|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000402753|protein_coding||c.*294T>A|||||2025|,T|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000406915|protein_coding||c.*315T>A|||||1940| 22 50987609 . GC G . . ANN=|frameshift_variant|HIGH|KLHDC7B|ENSG00000130487|transcript|ENST00000395676|protein_coding|1/1|c.1017delC|p.Pro339fs|1151/2990|1017/1785|339/594||INFO_REALIGN_3_PRIME,|sequence_feature|LOW|KLHDC7B|ENSG00000130487|repeat:Kelch_1|ENST00000395676|protein_coding|1/1|c.1015delC||||||,|downstream_gene_variant|MODIFIER|CTA-384D8.31|ENSG00000226738|transcript|ENST00000434237|antisense||n.*157delC|||||1529|,|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000402753|protein_coding||c.*294delG|||||2016|,|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000406915|protein_coding||c.*315delG|||||1931|;LOF=(KLHDC7B|ENSG00000130487|1|1.00) 22 50987690 . C T . . ANN=T|synonymous_variant|LOW|KLHDC7B|ENSG00000130487|transcript|ENST00000395676|protein_coding|1/1|c.1095C>T|p.Ser365Ser|1229/2990|1095/1785|365/594||,T|sequence_feature|LOW|KLHDC7B|ENSG00000130487|repeat:Kelch_2|ENST00000395676|protein_coding|1/1|c.1095C>T||||||,T|downstream_gene_variant|MODIFIER|CTA-384D8.31|ENSG00000226738|transcript|ENST00000434237|antisense||n.*157C>T|||||1609|,T|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000402753|protein_coding||c.*294G>A|||||1936|,T|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000406915|protein_coding||c.*315G>A|||||1851| 22 50987843 . C T . . ANN=T|synonymous_variant|LOW|KLHDC7B|ENSG00000130487|transcript|ENST00000395676|protein_coding|1/1|c.1248C>T|p.Tyr416Tyr|1382/2990|1248/1785|416/594||,T|sequence_feature|LOW|KLHDC7B|ENSG00000130487|repeat:Kelch_3|ENST00000395676|protein_coding|1/1|c.1248C>T||||||,T|downstream_gene_variant|MODIFIER|CTA-384D8.31|ENSG00000226738|transcript|ENST00000434237|antisense||n.*157C>T|||||1762|,T|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000402753|protein_coding||c.*294G>A|||||1783|,T|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000406915|protein_coding||c.*315G>A|||||1698| 22 50987859 . G A . . ANN=A|missense_variant|MODERATE|KLHDC7B|ENSG00000130487|transcript|ENST00000395676|protein_coding|1/1|c.1264G>A|p.Asp422Asn|1398/2990|1264/1785|422/594||,A|sequence_feature|LOW|KLHDC7B|ENSG00000130487|repeat:Kelch_3|ENST00000395676|protein_coding|1/1|c.1264G>A||||||,A|downstream_gene_variant|MODIFIER|CTA-384D8.31|ENSG00000226738|transcript|ENST00000434237|antisense||n.*157G>A|||||1778|,A|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000402753|protein_coding||c.*294C>T|||||1767|,A|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000406915|protein_coding||c.*315C>T|||||1682| 22 50987990 . G A . . ANN=A|synonymous_variant|LOW|KLHDC7B|ENSG00000130487|transcript|ENST00000395676|protein_coding|1/1|c.1395G>A|p.Arg465Arg|1529/2990|1395/1785|465/594||,A|sequence_feature|LOW|KLHDC7B|ENSG00000130487|repeat:Kelch_4|ENST00000395676|protein_coding|1/1|c.1395G>A||||||,A|downstream_gene_variant|MODIFIER|CTA-384D8.31|ENSG00000226738|transcript|ENST00000434237|antisense||n.*157G>A|||||1909|,A|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000402753|protein_coding||c.*294C>T|||||1636|,A|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000406915|protein_coding||c.*315C>T|||||1551| 22 50988038 . C T . . ANN=T|synonymous_variant|LOW|KLHDC7B|ENSG00000130487|transcript|ENST00000395676|protein_coding|1/1|c.1443C>T|p.Ser481Ser|1577/2990|1443/1785|481/594||,T|sequence_feature|LOW|KLHDC7B|ENSG00000130487|repeat:Kelch_4|ENST00000395676|protein_coding|1/1|c.1443C>T||||||,T|downstream_gene_variant|MODIFIER|CTA-384D8.31|ENSG00000226738|transcript|ENST00000434237|antisense||n.*157C>T|||||1957|,T|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000402753|protein_coding||c.*294G>A|||||1588|,T|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000406915|protein_coding||c.*315G>A|||||1503| 22 50988062 . G T . . ANN=T|synonymous_variant|LOW|KLHDC7B|ENSG00000130487|transcript|ENST00000395676|protein_coding|1/1|c.1467G>T|p.Val489Val|1601/2990|1467/1785|489/594||,T|sequence_feature|LOW|KLHDC7B|ENSG00000130487|repeat:Kelch_4|ENST00000395676|protein_coding|1/1|c.1467G>T||||||,T|downstream_gene_variant|MODIFIER|CTA-384D8.31|ENSG00000226738|transcript|ENST00000434237|antisense||n.*157G>T|||||1981|,T|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000402753|protein_coding||c.*294C>A|||||1564|,T|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000406915|protein_coding||c.*315C>A|||||1479| 22 50988105 . G A . . ANN=A|missense_variant|MODERATE|KLHDC7B|ENSG00000130487|transcript|ENST00000395676|protein_coding|1/1|c.1510G>A|p.Val504Met|1644/2990|1510/1785|504/594||,A|sequence_feature|LOW|KLHDC7B|ENSG00000130487|repeat:Kelch_5|ENST00000395676|protein_coding|1/1|c.1510G>A||||||,A|downstream_gene_variant|MODIFIER|CTA-384D8.31|ENSG00000226738|transcript|ENST00000434237|antisense||n.*157G>A|||||2024|,A|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000402753|protein_coding||c.*294C>T|||||1521|,A|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000406915|protein_coding||c.*315C>T|||||1436| 22 50988141 . G A . . ANN=A|missense_variant|MODERATE|KLHDC7B|ENSG00000130487|transcript|ENST00000395676|protein_coding|1/1|c.1546G>A|p.Gly516Ser|1680/2990|1546/1785|516/594||,A|sequence_feature|LOW|KLHDC7B|ENSG00000130487|repeat:Kelch_5|ENST00000395676|protein_coding|1/1|c.1546G>A||||||,A|downstream_gene_variant|MODIFIER|CTA-384D8.31|ENSG00000226738|transcript|ENST00000434237|antisense||n.*157G>A|||||2060|,A|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000402753|protein_coding||c.*294C>T|||||1485|,A|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000406915|protein_coding||c.*315C>T|||||1400| 22 50988183 . G A . . ANN=A|missense_variant|MODERATE|KLHDC7B|ENSG00000130487|transcript|ENST00000395676|protein_coding|1/1|c.1588G>A|p.Ala530Thr|1722/2990|1588/1785|530/594||,A|sequence_feature|LOW|KLHDC7B|ENSG00000130487|repeat:Kelch_5|ENST00000395676|protein_coding|1/1|c.1588G>A||||||,A|downstream_gene_variant|MODIFIER|CTA-384D8.31|ENSG00000226738|transcript|ENST00000434237|antisense||n.*157G>A|||||2102|,A|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000402753|protein_coding||c.*294C>T|||||1443|,A|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000406915|protein_coding||c.*315C>T|||||1358| 22 50988192 . C A . . ANN=A|missense_variant|MODERATE|KLHDC7B|ENSG00000130487|transcript|ENST00000395676|protein_coding|1/1|c.1597C>A|p.His533Asn|1731/2990|1597/1785|533/594||,A|sequence_feature|LOW|KLHDC7B|ENSG00000130487|repeat:Kelch_5|ENST00000395676|protein_coding|1/1|c.1597C>A||||||,A|downstream_gene_variant|MODIFIER|CTA-384D8.31|ENSG00000226738|transcript|ENST00000434237|antisense||n.*157C>A|||||2111|,A|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000402753|protein_coding||c.*294G>T|||||1434|,A|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000406915|protein_coding||c.*315G>T|||||1349| 22 50988193 . A G . . ANN=G|missense_variant|MODERATE|KLHDC7B|ENSG00000130487|transcript|ENST00000395676|protein_coding|1/1|c.1598A>G|p.His533Arg|1732/2990|1598/1785|533/594||,G|sequence_feature|LOW|KLHDC7B|ENSG00000130487|repeat:Kelch_5|ENST00000395676|protein_coding|1/1|c.1598A>G||||||,G|downstream_gene_variant|MODIFIER|CTA-384D8.31|ENSG00000226738|transcript|ENST00000434237|antisense||n.*157A>G|||||2112|,G|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000402753|protein_coding||c.*294T>C|||||1433|,G|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000406915|protein_coding||c.*315T>C|||||1348| 22 50988317 . C T . . ANN=T|synonymous_variant|LOW|KLHDC7B|ENSG00000130487|transcript|ENST00000395676|protein_coding|1/1|c.1722C>T|p.Thr574Thr|1856/2990|1722/1785|574/594||,T|downstream_gene_variant|MODIFIER|CTA-384D8.31|ENSG00000226738|transcript|ENST00000434237|antisense||n.*157C>T|||||2236|,T|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000402753|protein_coding||c.*294G>A|||||1309|,T|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000406915|protein_coding||c.*315G>A|||||1224| 22 50988352 . C A . . ANN=A|missense_variant|MODERATE|KLHDC7B|ENSG00000130487|transcript|ENST00000395676|protein_coding|1/1|c.1757C>A|p.Pro586His|1891/2990|1757/1785|586/594||,A|downstream_gene_variant|MODIFIER|CTA-384D8.31|ENSG00000226738|transcript|ENST00000434237|antisense||n.*157C>A|||||2271|,A|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000402753|protein_coding||c.*294G>T|||||1274|,A|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000406915|protein_coding||c.*315G>T|||||1189| 22 50988376 . T C . . ANN=C|missense_variant|MODERATE|KLHDC7B|ENSG00000130487|transcript|ENST00000395676|protein_coding|1/1|c.1781T>C|p.Leu594Pro|1915/2990|1781/1785|594/594||,C|downstream_gene_variant|MODIFIER|CTA-384D8.31|ENSG00000226738|transcript|ENST00000434237|antisense||n.*157T>C|||||2295|,C|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000402753|protein_coding||c.*294A>G|||||1250|,C|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000406915|protein_coding||c.*315A>G|||||1165| 22 50988413 . C G . . ANN=G|3_prime_UTR_variant|MODIFIER|KLHDC7B|ENSG00000130487|transcript|ENST00000395676|protein_coding|1/1|c.*33C>G|||||33|,G|downstream_gene_variant|MODIFIER|CTA-384D8.31|ENSG00000226738|transcript|ENST00000434237|antisense||n.*157C>G|||||2332|,G|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000402753|protein_coding||c.*294G>C|||||1213|,G|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000406915|protein_coding||c.*315G>C|||||1128| 22 51007725 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|19/19|c.*42G>A|||||42|,T|3_prime_UTR_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|19/19|c.*42G>A|||||42|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron||n.*806G>A|||||1052|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.*572G>A|||||2587|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.*279G>A|||||3579|,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|19/19|c.*2+40G>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|18/18|c.*2+40G>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|19/19|c.*2+40G>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|18/18|c.*2+40G>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|21/21|c.*2+40G>A||||||,T|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|22/22|n.*2546+40G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|26/27|n.4564G>A|||||| 22 51007847 . C T . . ANN=T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|19/20|c.2239G>A|p.Ala747Thr|2290/2592|2239/2319|747/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|18/19|c.2239G>A|p.Ala747Thr|2344/2647|2239/2319|747/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|19/19|c.2239G>A|p.Ala747Thr|2377/2933|2239/2319|747/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|19/20|c.1996G>A|p.Ala666Thr|2134/2436|1996/2076|666/691||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|18/19|c.2137G>A|p.Ala713Thr|2275/2577|2137/2217|713/738||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|21/22|c.1624G>A|p.Ala542Thr|2584/2753|1624/1704|542/567||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|19/19|c.2239G>A|p.Ala747Thr|2328/2662|2239/2319|747/772||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.2239G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.2239G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.2239G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.2239G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.2239G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.2239G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.2239G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.2239G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.2239G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.2239G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.2239G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.2239G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.2239G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.2239G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.2239G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.2239G>A||||||,T|3_prime_UTR_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|22/23|n.*2464G>A|||||9763|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron||n.*806G>A|||||930|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.*572G>A|||||2465|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.*279G>A|||||3457|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545G>A|||||4947|,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|26/27|n.4442G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|22/23|n.*2464G>A|||||| 22 51007848 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|19/20|c.2238C>T|p.Asn746Asn|2289/2592|2238/2319|746/772||,A|splice_region_variant&non_coding_exon_variant|LOW|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|26/27|n.4441C>T||||||,A|splice_region_variant&synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|18/19|c.2238C>T|p.Asn746Asn|2343/2647|2238/2319|746/772||,A|splice_region_variant&synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|19/19|c.2238C>T|p.Asn746Asn|2376/2933|2238/2319|746/772||,A|splice_region_variant&synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|19/20|c.1995C>T|p.Asn665Asn|2133/2436|1995/2076|665/691||,A|splice_region_variant&synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|18/19|c.2136C>T|p.Asn712Asn|2274/2577|2136/2217|712/738||,A|splice_region_variant&synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|21/22|c.1623C>T|p.Asn541Asn|2583/2753|1623/1704|541/567||,A|splice_region_variant&non_coding_exon_variant|LOW|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|22/23|n.*2463C>T||||||,A|splice_region_variant&synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|19/19|c.2238C>T|p.Asn746Asn|2327/2662|2238/2319|746/772||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.2238C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.2238C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.2238C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.2238C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.2238C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.2238C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.2238C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.2238C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.2238C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.2238C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.2238C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.2238C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.2238C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.2238C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.2238C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.2238C>T||||||,A|3_prime_UTR_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|22/23|n.*2463C>T|||||9762|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron||n.*806C>T|||||929|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.*572C>T|||||2464|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.*279C>T|||||3456|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545C>T|||||4946| 22 51007987 . C A . . ANN=A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.2235+18G>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.2235+18G>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.2235+18G>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.2235+18G>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.2235+18G>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.2235+18G>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.2235+18G>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.2235+18G>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.2235+18G>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.2235+18G>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.2235+18G>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.2235+18G>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.2235+18G>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.2235+18G>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.2235+18G>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.2235+18G>T||||||,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron||n.*806G>T|||||790|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.*572G>T|||||2325|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.*279G>T|||||3317|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545G>T|||||4807|,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|18/19|c.2235+18G>T||||||,A|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|25/26|n.4438+18G>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|17/18|c.2235+18G>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|18/18|c.2235+18G>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|18/19|c.1992+18G>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|17/18|c.2133+18G>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|20/21|c.1620+18G>T||||||,A|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|21/22|n.*2460+18G>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|18/18|c.2235+18G>T|||||| 22 51007989 . G T . . ANN=T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.2235+16C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.2235+16C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.2235+16C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.2235+16C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.2235+16C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.2235+16C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.2235+16C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.2235+16C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.2235+16C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.2235+16C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.2235+16C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.2235+16C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.2235+16C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.2235+16C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.2235+16C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.2235+16C>A||||||,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron||n.*806C>A|||||788|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.*572C>A|||||2323|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.*279C>A|||||3315|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545C>A|||||4805|,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|18/19|c.2235+16C>A||||||,T|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|25/26|n.4438+16C>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|17/18|c.2235+16C>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|18/18|c.2235+16C>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|18/19|c.1992+16C>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|17/18|c.2133+16C>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|20/21|c.1620+16C>A||||||,T|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|21/22|n.*2460+16C>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|18/18|c.2235+16C>A|||||| 22 51008045 . A G . . ANN=G|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|18/20|c.2195T>C|p.Ile732Thr|2246/2592|2195/2319|732/772||,G|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|17/19|c.2195T>C|p.Ile732Thr|2300/2647|2195/2319|732/772||,G|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|18/19|c.2195T>C|p.Ile732Thr|2333/2933|2195/2319|732/772||,G|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|18/20|c.1952T>C|p.Ile651Thr|2090/2436|1952/2076|651/691||,G|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|17/19|c.2093T>C|p.Ile698Thr|2231/2577|2093/2217|698/738||,G|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|20/22|c.1580T>C|p.Ile527Thr|2540/2753|1580/1704|527/567||,G|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|18/19|c.2195T>C|p.Ile732Thr|2284/2662|2195/2319|732/772||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.2195T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.2195T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.2195T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.2195T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.2195T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.2195T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.2195T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.2195T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.2195T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.2195T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.2195T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.2195T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.2195T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.2195T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.2195T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.2195T>C||||||,G|3_prime_UTR_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|21/23|n.*2420T>C|||||9565|,G|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron||n.*806T>C|||||732|,G|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.*572T>C|||||2267|,G|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.*279T>C|||||3259|,G|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545T>C|||||4749|,G|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|25/27|n.4398T>C||||||,G|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|21/23|n.*2420T>C|||||| 22 51008048 . G A . . ANN=A|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|18/20|c.2192C>T|p.Thr731Met|2243/2592|2192/2319|731/772||,A|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|17/19|c.2192C>T|p.Thr731Met|2297/2647|2192/2319|731/772||,A|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|18/19|c.2192C>T|p.Thr731Met|2330/2933|2192/2319|731/772||,A|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|18/20|c.1949C>T|p.Thr650Met|2087/2436|1949/2076|650/691||,A|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|17/19|c.2090C>T|p.Thr697Met|2228/2577|2090/2217|697/738||,A|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|20/22|c.1577C>T|p.Thr526Met|2537/2753|1577/1704|526/567||,A|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|18/19|c.2192C>T|p.Thr731Met|2281/2662|2192/2319|731/772||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.2192C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.2192C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.2192C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.2192C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.2192C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.2192C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.2192C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.2192C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.2192C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.2192C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.2192C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.2192C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.2192C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.2192C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.2192C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.2192C>T||||||,A|3_prime_UTR_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|21/23|n.*2417C>T|||||9562|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron||n.*806C>T|||||729|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.*572C>T|||||2264|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.*279C>T|||||3256|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545C>T|||||4746|,A|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|25/27|n.4395C>T||||||,A|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|21/23|n.*2417C>T|||||| 22 51008055 . C T . . ANN=T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|18/20|c.2185G>A|p.Glu729Lys|2236/2592|2185/2319|729/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|17/19|c.2185G>A|p.Glu729Lys|2290/2647|2185/2319|729/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|18/19|c.2185G>A|p.Glu729Lys|2323/2933|2185/2319|729/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|18/20|c.1942G>A|p.Glu648Lys|2080/2436|1942/2076|648/691||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|17/19|c.2083G>A|p.Glu695Lys|2221/2577|2083/2217|695/738||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|20/22|c.1570G>A|p.Glu524Lys|2530/2753|1570/1704|524/567||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|18/19|c.2185G>A|p.Glu729Lys|2274/2662|2185/2319|729/772||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.2185G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.2185G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.2185G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.2185G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.2185G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.2185G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.2185G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.2185G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.2185G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.2185G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.2185G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.2185G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.2185G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.2185G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.2185G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.2185G>A||||||,T|3_prime_UTR_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|21/23|n.*2410G>A|||||9555|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron||n.*806G>A|||||722|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.*572G>A|||||2257|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.*279G>A|||||3249|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545G>A|||||4739|,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|25/27|n.4388G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|21/23|n.*2410G>A|||||| 22 51008121 . G A . . ANN=A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.2143-24C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.2143-24C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.2143-24C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.2143-24C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.2143-24C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.2143-24C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.2143-24C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.2143-24C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.2143-24C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.2143-24C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.2143-24C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.2143-24C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.2143-24C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.2143-24C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.2143-24C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.2143-24C>T||||||,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron||n.*806C>T|||||656|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.*572C>T|||||2191|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.*279C>T|||||3183|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545C>T|||||4673|,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|17/19|c.2143-24C>T||||||,A|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|24/26|n.4346-24C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|16/18|c.2143-24C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|17/18|c.2143-24C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|17/19|c.1900-24C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|16/18|c.2041-24C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|19/21|c.1528-24C>T||||||,A|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|20/22|n.*2368-24C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|17/18|c.2143-24C>T|||||| 22 51008135 . A G . . ANN=G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.2143-38T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.2143-38T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.2143-38T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.2143-38T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.2143-38T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.2143-38T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.2143-38T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.2143-38T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.2143-38T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.2143-38T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.2143-38T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.2143-38T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.2143-38T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.2143-38T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.2143-38T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.2143-38T>C||||||,G|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron||n.*806T>C|||||642|,G|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.*572T>C|||||2177|,G|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.*279T>C|||||3169|,G|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545T>C|||||4659|,G|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|17/19|c.2143-38T>C||||||,G|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|24/26|n.4346-38T>C||||||,G|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|16/18|c.2143-38T>C||||||,G|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|17/18|c.2143-38T>C||||||,G|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|17/19|c.1900-38T>C||||||,G|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|16/18|c.2041-38T>C||||||,G|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|19/21|c.1528-38T>C||||||,G|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|20/22|n.*2368-38T>C||||||,G|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|17/18|c.2143-38T>C|||||| 22 51008141 . G A . . ANN=A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.2143-44C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.2143-44C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.2143-44C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.2143-44C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.2143-44C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.2143-44C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.2143-44C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.2143-44C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.2143-44C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.2143-44C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.2143-44C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.2143-44C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.2143-44C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.2143-44C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.2143-44C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.2143-44C>T||||||,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron||n.*806C>T|||||636|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.*572C>T|||||2171|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.*279C>T|||||3163|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545C>T|||||4653|,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|17/19|c.2143-44C>T||||||,A|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|24/26|n.4346-44C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|16/18|c.2143-44C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|17/18|c.2143-44C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|17/19|c.1900-44C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|16/18|c.2041-44C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|19/21|c.1528-44C>T||||||,A|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|20/22|n.*2368-44C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|17/18|c.2143-44C>T|||||| 22 51008731 . G A . . ANN=A|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|17/20|c.2133C>T|p.Gly711Gly|2184/2592|2133/2319|711/772||,A|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|16/19|c.2133C>T|p.Gly711Gly|2238/2647|2133/2319|711/772||,A|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|17/19|c.2133C>T|p.Gly711Gly|2271/2933|2133/2319|711/772||,A|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|17/20|c.1890C>T|p.Gly630Gly|2028/2436|1890/2076|630/691||,A|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|16/19|c.2031C>T|p.Gly677Gly|2169/2577|2031/2217|677/738||,A|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|19/22|c.1518C>T|p.Gly506Gly|2478/2753|1518/1704|506/567||,A|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|17/19|c.2133C>T|p.Gly711Gly|2222/2662|2133/2319|711/772||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.2133C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.2133C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.2133C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.2133C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.2133C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.2133C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.2133C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.2133C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.2133C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.2133C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.2133C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.2133C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.2133C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.2133C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.2133C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.2133C>T||||||,A|3_prime_UTR_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|20/23|n.*2358C>T|||||8879|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron||n.*806C>T|||||46|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.*572C>T|||||1581|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.*279C>T|||||2573|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545C>T|||||4063|,A|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|24/27|n.4336C>T||||||,A|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|20/23|n.*2358C>T|||||| 22 51008816 . C T . . ANN=T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|17/20|c.2048G>A|p.Arg683His|2099/2592|2048/2319|683/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|16/19|c.2048G>A|p.Arg683His|2153/2647|2048/2319|683/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|17/19|c.2048G>A|p.Arg683His|2186/2933|2048/2319|683/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|17/20|c.1805G>A|p.Arg602His|1943/2436|1805/2076|602/691||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|16/19|c.1946G>A|p.Arg649His|2084/2577|1946/2217|649/738||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|19/22|c.1433G>A|p.Arg478His|2393/2753|1433/1704|478/567||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|17/19|c.2048G>A|p.Arg683His|2137/2662|2048/2319|683/772||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.2048G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.2048G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.2048G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.2048G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.2048G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.2048G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.2048G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.2048G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.2048G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.2048G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.2048G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.2048G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.2048G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.2048G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.2048G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.2048G>A||||||,T|3_prime_UTR_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|20/23|n.*2273G>A|||||8794|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.*572G>A|||||1496|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.*279G>A|||||2488|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545G>A|||||3978|,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|24/27|n.4251G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|20/23|n.*2273G>A||||||,T|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron|5/5|n.767G>A|||||| 22 51008850 . A G . . ANN=G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.2029-15T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.2029-15T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.2029-15T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.2029-15T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.2029-15T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.2029-15T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.2029-15T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.2029-15T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.2029-15T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.2029-15T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.2029-15T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.2029-15T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.2029-15T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.2029-15T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.2029-15T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.2029-15T>C||||||,G|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.*572T>C|||||1462|,G|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.*279T>C|||||2454|,G|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545T>C|||||3944|,G|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|16/19|c.2029-15T>C||||||,G|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|23/26|n.4232-15T>C||||||,G|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|15/18|c.2029-15T>C||||||,G|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|16/18|c.2029-15T>C||||||,G|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|16/19|c.1786-15T>C||||||,G|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|15/18|c.1927-15T>C||||||,G|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|18/21|c.1414-15T>C||||||,G|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|19/22|n.*2254-15T>C||||||,G|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|16/18|c.2029-15T>C||||||,G|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron|4/4|n.748-15T>C|||||| 22 51009310 . C T . . ANN=T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.2028+10G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.2028+10G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.2028+10G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.2028+10G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.2028+10G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.2028+10G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.2028+10G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.2028+10G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.2028+10G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.2028+10G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.2028+10G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.2028+10G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.2028+10G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.2028+10G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.2028+10G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.2028+10G>A||||||,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.*572G>A|||||1002|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.*279G>A|||||1994|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545G>A|||||3484|,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|16/19|c.2028+10G>A||||||,T|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|23/26|n.4231+10G>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|15/18|c.2028+10G>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|16/18|c.2028+10G>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|16/19|c.1785+10G>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|15/18|c.1926+10G>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|18/21|c.1413+10G>A||||||,T|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|19/22|n.*2253+10G>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|16/18|c.2028+10G>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron|4/4|n.747+10G>A|||||| 22 51009371 . G C . . ANN=C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|16/20|c.1977C>G|p.Cys659Trp|2028/2592|1977/2319|659/772||,C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|15/19|c.1977C>G|p.Cys659Trp|2082/2647|1977/2319|659/772||,C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|16/19|c.1977C>G|p.Cys659Trp|2115/2933|1977/2319|659/772||,C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|16/20|c.1734C>G|p.Cys578Trp|1872/2436|1734/2076|578/691||,C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|15/19|c.1875C>G|p.Cys625Trp|2013/2577|1875/2217|625/738||,C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|18/22|c.1362C>G|p.Cys454Trp|2322/2753|1362/1704|454/567||,C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|16/19|c.1977C>G|p.Cys659Trp|2066/2662|1977/2319|659/772||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.1977C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.1977C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.1977C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.1977C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.1977C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.1977C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.1977C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.1977C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.1977C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.1977C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.1977C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.1977C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.1977C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.1977C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.1977C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.1977C>G||||||,C|3_prime_UTR_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|19/23|n.*2202C>G|||||8239|,C|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.*572C>G|||||941|,C|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.*279C>G|||||1933|,C|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545C>G|||||3423|,C|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|23/27|n.4180C>G||||||,C|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|19/23|n.*2202C>G||||||,C|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron|4/5|n.696C>G|||||| 22 51009468 . G T . . ANN=T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|16/20|c.1880C>A|p.Ala627Glu|1931/2592|1880/2319|627/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|15/19|c.1880C>A|p.Ala627Glu|1985/2647|1880/2319|627/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|16/19|c.1880C>A|p.Ala627Glu|2018/2933|1880/2319|627/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|16/20|c.1637C>A|p.Ala546Glu|1775/2436|1637/2076|546/691||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|15/19|c.1778C>A|p.Ala593Glu|1916/2577|1778/2217|593/738||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|18/22|c.1265C>A|p.Ala422Glu|2225/2753|1265/1704|422/567||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|16/19|c.1880C>A|p.Ala627Glu|1969/2662|1880/2319|627/772||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.1880C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.1880C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.1880C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.1880C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.1880C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.1880C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.1880C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.1880C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.1880C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.1880C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.1880C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.1880C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.1880C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.1880C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.1880C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.1880C>A||||||,T|3_prime_UTR_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|19/23|n.*2105C>A|||||8142|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.*572C>A|||||844|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.*279C>A|||||1836|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545C>A|||||3326|,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|23/27|n.4083C>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|19/23|n.*2105C>A||||||,T|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron|4/5|n.599C>A|||||| 22 51009486 . G T . . ANN=T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.1876-14C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.1876-14C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.1876-14C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.1876-14C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.1876-14C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.1876-14C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.1876-14C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.1876-14C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.1876-14C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.1876-14C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.1876-14C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.1876-14C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.1876-14C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.1876-14C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.1876-14C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.1876-14C>A||||||,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.*572C>A|||||826|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.*279C>A|||||1818|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545C>A|||||3308|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.*563C>A|||||4999|,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|15/19|c.1876-14C>A||||||,T|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|22/26|n.4079-14C>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|14/18|c.1876-14C>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|15/18|c.1876-14C>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|15/19|c.1633-14C>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|14/18|c.1774-14C>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|17/21|c.1261-14C>A||||||,T|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|18/22|n.*2101-14C>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|15/18|c.1876-14C>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron|3/4|n.595-14C>A|||||| 22 51009487 . T C . . ANN=C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.1876-15A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.1876-15A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.1876-15A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.1876-15A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.1876-15A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.1876-15A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.1876-15A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.1876-15A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.1876-15A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.1876-15A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.1876-15A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.1876-15A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.1876-15A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.1876-15A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.1876-15A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.1876-15A>G||||||,C|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.*572A>G|||||825|,C|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.*279A>G|||||1817|,C|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545A>G|||||3307|,C|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.*563A>G|||||4998|,C|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|15/19|c.1876-15A>G||||||,C|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|22/26|n.4079-15A>G||||||,C|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|14/18|c.1876-15A>G||||||,C|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|15/18|c.1876-15A>G||||||,C|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|15/19|c.1633-15A>G||||||,C|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|14/18|c.1774-15A>G||||||,C|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|17/21|c.1261-15A>G||||||,C|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|18/22|n.*2101-15A>G||||||,C|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|15/18|c.1876-15A>G||||||,C|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron|3/4|n.595-15A>G|||||| 22 51009560 . A AC . . ANN=C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.1875+26dupG||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.1875+26dupG||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.1875+26dupG||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.1875+26dupG||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.1875+26dupG||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.1875+26dupG||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.1875+26dupG||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.1875+26dupG||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.1875+26dupG||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.1875+26dupG||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.1875+26dupG||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.1875+26dupG||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.1875+26dupG||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.1875+26dupG||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.1875+26dupG||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.1875+26dupG||||||,C|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.*572dupG|||||751|,C|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.*279dupG|||||1743|,C|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545dupG|||||3233|,C|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.*563dupG|||||4924|,C|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|15/19|c.1875+26dupG||||||,C|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|22/26|n.4078+26dupG||||||,C|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|14/18|c.1875+26dupG||||||,C|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|15/18|c.1875+26dupG||||||,C|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|15/19|c.1632+26dupG||||||,C|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|14/18|c.1773+26dupG||||||,C|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|17/21|c.1260+26dupG||||||,C|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|18/22|n.*2100+26dupG||||||,C|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|15/18|c.1875+26dupG||||||,C|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron|3/4|n.594+26dupG|||||| 22 51009624 . G A . . ANN=A|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|15/20|c.1838C>T|p.Thr613Ile|1889/2592|1838/2319|613/772||,A|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|14/19|c.1838C>T|p.Thr613Ile|1943/2647|1838/2319|613/772||,A|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|15/19|c.1838C>T|p.Thr613Ile|1976/2933|1838/2319|613/772||,A|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|15/20|c.1595C>T|p.Thr532Ile|1733/2436|1595/2076|532/691||,A|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|14/19|c.1736C>T|p.Thr579Ile|1874/2577|1736/2217|579/738||,A|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|17/22|c.1223C>T|p.Thr408Ile|2183/2753|1223/1704|408/567||,A|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|15/19|c.1838C>T|p.Thr613Ile|1927/2662|1838/2319|613/772||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.1838C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.1838C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.1838C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.1838C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.1838C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.1838C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.1838C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.1838C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.1838C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.1838C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.1838C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.1838C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.1838C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.1838C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.1838C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.1838C>T||||||,A|3_prime_UTR_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|18/23|n.*2063C>T|||||7986|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.*572C>T|||||688|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.*279C>T|||||1680|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545C>T|||||3170|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.*563C>T|||||4861|,A|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|22/27|n.4041C>T||||||,A|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|18/23|n.*2063C>T||||||,A|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron|3/5|n.557C>T|||||| 22 51009736 . G C . . ANN=C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.1741-15C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.1741-15C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.1741-15C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.1741-15C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.1741-15C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.1741-15C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.1741-15C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.1741-15C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.1741-15C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.1741-15C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.1741-15C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.1741-15C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.1741-15C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.1741-15C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.1741-15C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.1741-15C>G||||||,C|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.*572C>G|||||576|,C|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.*279C>G|||||1568|,C|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545C>G|||||3058|,C|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.*563C>G|||||4749|,C|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|14/19|c.1741-15C>G||||||,C|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|21/26|n.3949-20C>G||||||,C|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|13/18|c.1741-15C>G||||||,C|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|14/18|c.1741-15C>G||||||,C|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|14/19|c.1498-15C>G||||||,C|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|13/18|c.1639-15C>G||||||,C|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|16/21|c.1126-15C>G||||||,C|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|17/22|n.*1966-15C>G||||||,C|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|14/18|c.1741-15C>G||||||,C|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron|3/5|n.445C>G|||||| 22 51009806 . G A . . ANN=A|missense_variant&splice_region_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|14/20|c.1738C>T|p.Arg580Trp|1789/2592|1738/2319|580/772||,A|missense_variant&splice_region_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|13/19|c.1738C>T|p.Arg580Trp|1843/2647|1738/2319|580/772||,A|missense_variant&splice_region_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|14/19|c.1738C>T|p.Arg580Trp|1876/2933|1738/2319|580/772||,A|missense_variant&splice_region_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|14/20|c.1495C>T|p.Arg499Trp|1633/2436|1495/2076|499/691||,A|missense_variant&splice_region_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|13/19|c.1636C>T|p.Arg546Trp|1774/2577|1636/2217|546/738||,A|missense_variant&splice_region_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|16/22|c.1123C>T|p.Arg375Trp|2083/2753|1123/1704|375/567||,A|missense_variant&splice_region_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|14/19|c.1738C>T|p.Arg580Trp|1827/2662|1738/2319|580/772||,A|splice_region_variant&non_coding_exon_variant|LOW|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|21/27|n.3946C>T||||||,A|splice_region_variant&non_coding_exon_variant|LOW|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|17/23|n.*1963C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.1738C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.1738C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.1738C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.1738C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.1738C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.1738C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.1738C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.1738C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.1738C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.1738C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.1738C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.1738C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.1738C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.1738C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.1738C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.1738C>T||||||,A|3_prime_UTR_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|17/23|n.*1963C>T|||||7804|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.*572C>T|||||506|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.*279C>T|||||1498|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545C>T|||||2988|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.*563C>T|||||4679|,A|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron|3/5|n.375C>T|||||| 22 51009856 . C T . . ANN=T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|14/20|c.1688G>A|p.Arg563Gln|1739/2592|1688/2319|563/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|13/19|c.1688G>A|p.Arg563Gln|1793/2647|1688/2319|563/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|14/19|c.1688G>A|p.Arg563Gln|1826/2933|1688/2319|563/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|14/20|c.1445G>A|p.Arg482Gln|1583/2436|1445/2076|482/691||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|13/19|c.1586G>A|p.Arg529Gln|1724/2577|1586/2217|529/738||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|16/22|c.1073G>A|p.Arg358Gln|2033/2753|1073/1704|358/567||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|14/19|c.1688G>A|p.Arg563Gln|1777/2662|1688/2319|563/772||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.1688G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.1688G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.1688G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.1688G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.1688G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.1688G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.1688G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.1688G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.1688G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.1688G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.1688G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.1688G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.1688G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.1688G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.1688G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.1688G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|region_of_interest:Coenzyme_A_binding|ENST00000312108|protein_coding|14/20|c.1688G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|region_of_interest:Coenzyme_A_binding|ENST00000440709|protein_coding|14/20|c.1445G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|region_of_interest:Coenzyme_A_binding|ENST00000457250|protein_coding|13/19|c.1586G>A||||||,T|3_prime_UTR_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|17/23|n.*1913G>A|||||7754|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.*572G>A|||||456|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.*279G>A|||||1448|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545G>A|||||2938|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.*563G>A|||||4629|,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|21/27|n.3896G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|17/23|n.*1913G>A||||||,T|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron|3/5|n.325G>A|||||| 22 51009918 . G A . . ANN=A|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|14/20|c.1626C>T|p.Asp542Asp|1677/2592|1626/2319|542/772||,A|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|13/19|c.1626C>T|p.Asp542Asp|1731/2647|1626/2319|542/772||,A|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|14/19|c.1626C>T|p.Asp542Asp|1764/2933|1626/2319|542/772||,A|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|14/20|c.1383C>T|p.Asp461Asp|1521/2436|1383/2076|461/691||,A|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|13/19|c.1524C>T|p.Asp508Asp|1662/2577|1524/2217|508/738||,A|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|16/22|c.1011C>T|p.Asp337Asp|1971/2753|1011/1704|337/567||,A|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|14/19|c.1626C>T|p.Asp542Asp|1715/2662|1626/2319|542/772||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.1626C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.1626C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.1626C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.1626C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.1626C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.1626C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.1626C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.1626C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.1626C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.1626C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.1626C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.1626C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.1626C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.1626C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.1626C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.1626C>T||||||,A|3_prime_UTR_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|17/23|n.*1851C>T|||||7692|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.*572C>T|||||394|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.*279C>T|||||1386|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545C>T|||||2876|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.*563C>T|||||4567|,A|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|21/27|n.3834C>T||||||,A|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|17/23|n.*1851C>T||||||,A|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron|3/5|n.263C>T|||||| 22 51009938 . C T . . ANN=T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|14/20|c.1606G>A|p.Val536Met|1657/2592|1606/2319|536/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|13/19|c.1606G>A|p.Val536Met|1711/2647|1606/2319|536/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|14/19|c.1606G>A|p.Val536Met|1744/2933|1606/2319|536/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|14/20|c.1363G>A|p.Val455Met|1501/2436|1363/2076|455/691||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|13/19|c.1504G>A|p.Val502Met|1642/2577|1504/2217|502/738||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|16/22|c.991G>A|p.Val331Met|1951/2753|991/1704|331/567||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|14/19|c.1606G>A|p.Val536Met|1695/2662|1606/2319|536/772||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.1606G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.1606G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.1606G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.1606G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.1606G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.1606G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.1606G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.1606G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.1606G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.1606G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.1606G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.1606G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.1606G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.1606G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.1606G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.1606G>A||||||,T|3_prime_UTR_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|17/23|n.*1831G>A|||||7672|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.*572G>A|||||374|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.*279G>A|||||1366|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545G>A|||||2856|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.*563G>A|||||4547|,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|21/27|n.3814G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|17/23|n.*1831G>A||||||,T|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron|3/5|n.243G>A|||||| 22 51009953 . C T . . ANN=T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|14/20|c.1591G>A|p.Glu531Lys|1642/2592|1591/2319|531/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|13/19|c.1591G>A|p.Glu531Lys|1696/2647|1591/2319|531/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|14/19|c.1591G>A|p.Glu531Lys|1729/2933|1591/2319|531/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|14/20|c.1348G>A|p.Glu450Lys|1486/2436|1348/2076|450/691||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|13/19|c.1489G>A|p.Glu497Lys|1627/2577|1489/2217|497/738||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|16/22|c.976G>A|p.Glu326Lys|1936/2753|976/1704|326/567||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|14/19|c.1591G>A|p.Glu531Lys|1680/2662|1591/2319|531/772||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.1591G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.1591G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.1591G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.1591G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.1591G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.1591G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.1591G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.1591G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.1591G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.1591G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.1591G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.1591G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.1591G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.1591G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.1591G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.1591G>A||||||,T|3_prime_UTR_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|17/23|n.*1816G>A|||||7657|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.*572G>A|||||359|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.*279G>A|||||1351|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545G>A|||||2841|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.*563G>A|||||4532|,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|21/27|n.3799G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|17/23|n.*1816G>A||||||,T|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron|3/5|n.228G>A|||||| 22 51010416 . C T . . ANN=T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.1575+19G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.1575+19G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.1575+19G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.1575+19G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.1575+19G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.1575+19G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.1575+19G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.1575+19G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.1575+19G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.1575+19G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.1575+19G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.1575+19G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.1575+19G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.1575+19G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.1575+19G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.1575+19G>A||||||,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.*279G>A|||||888|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545G>A|||||2378|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.*563G>A|||||4069|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.*757G>A|||||4639|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.*562G>A|||||4720|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.*558G>A|||||4953|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|13/19|c.1575+19G>A||||||,T|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|20/26|n.3783+19G>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|12/18|c.1575+19G>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|13/18|c.1575+19G>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|13/19|c.1332+19G>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|12/18|c.1473+19G>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|15/21|c.966+19G>A||||||,T|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|16/22|n.*1806+19G>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|13/18|c.1575+19G>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron|2/4|n.212+19G>A||||||,T|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron|3/3|n.468G>A|||||| 22 51010540 . G A . . ANN=A|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|13/20|c.1470C>T|p.Gly490Gly|1521/2592|1470/2319|490/772||,A|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|12/19|c.1470C>T|p.Gly490Gly|1575/2647|1470/2319|490/772||,A|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|13/19|c.1470C>T|p.Gly490Gly|1608/2933|1470/2319|490/772||,A|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|13/20|c.1227C>T|p.Gly409Gly|1365/2436|1227/2076|409/691||,A|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|12/19|c.1368C>T|p.Gly456Gly|1506/2577|1368/2217|456/738||,A|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|15/22|c.861C>T|p.Gly287Gly|1821/2753|861/1704|287/567||,A|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|13/19|c.1470C>T|p.Gly490Gly|1559/2662|1470/2319|490/772||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.1470C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.1470C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.1470C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.1470C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.1470C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.1470C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.1470C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.1470C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.1470C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.1470C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.1470C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.1470C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.1470C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.1470C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.1470C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.1470C>T||||||,A|3_prime_UTR_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|16/23|n.*1701C>T|||||7070|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.*279C>T|||||764|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545C>T|||||2254|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.*563C>T|||||3945|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.*757C>T|||||4515|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.*562C>T|||||4596|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.*558C>T|||||4829|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|20/27|n.3678C>T||||||,A|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|16/23|n.*1701C>T||||||,A|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron|2/5|n.107C>T||||||,A|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron|3/3|n.344C>T|||||| 22 51010558 . G C . . ANN=C|splice_region_variant&intron_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|12/19|c.1459-7C>G||||||,C|splice_region_variant&intron_variant|LOW|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|19/26|n.3667-7C>G||||||,C|splice_region_variant&intron_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|11/18|c.1459-7C>G||||||,C|splice_region_variant&intron_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|12/18|c.1459-7C>G||||||,C|splice_region_variant&intron_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|12/19|c.1216-7C>G||||||,C|splice_region_variant&intron_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|11/18|c.1357-7C>G||||||,C|splice_region_variant&intron_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|14/21|c.850-7C>G||||||,C|splice_region_variant&intron_variant|LOW|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|15/22|n.*1690-7C>G||||||,C|splice_region_variant&intron_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|12/18|c.1459-7C>G||||||,C|splice_region_variant&intron_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron|1/4|n.96-7C>G||||||,C|splice_region_variant&intron_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron|2/2|n.333-7C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.1459-7C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.1459-7C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.1459-7C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.1459-7C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.1459-7C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.1459-7C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.1459-7C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.1459-7C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.1459-7C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.1459-7C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.1459-7C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.1459-7C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.1459-7C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.1459-7C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.1459-7C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.1459-7C>G||||||,C|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.*279C>G|||||746|,C|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545C>G|||||2236|,C|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.*563C>G|||||3927|,C|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.*757C>G|||||4497|,C|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.*562C>G|||||4578|,C|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.*558C>G|||||4811|WARNING_TRANSCRIPT_INCOMPLETE 22 51010603 . C A . . ANN=A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.1458+29G>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.1458+29G>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.1458+29G>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.1458+29G>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.1458+29G>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.1458+29G>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.1458+29G>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.1458+29G>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.1458+29G>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.1458+29G>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.1458+29G>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.1458+29G>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.1458+29G>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.1458+29G>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.1458+29G>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.1458+29G>T||||||,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.*279G>T|||||701|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545G>T|||||2191|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.*563G>T|||||3882|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.*757G>T|||||4452|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.*562G>T|||||4533|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.*558G>T|||||4766|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|12/19|c.1458+29G>T||||||,A|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|19/26|n.3666+29G>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|11/18|c.1458+29G>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|12/18|c.1458+29G>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|12/19|c.1215+29G>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|11/18|c.1356+29G>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|14/21|c.849+29G>T||||||,A|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|15/22|n.*1689+29G>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|12/18|c.1458+29G>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron|1/4|n.95+29G>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron|2/2|n.332+29G>T|||||| 22 51010609 . G C . . ANN=C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.1458+23C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.1458+23C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.1458+23C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.1458+23C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.1458+23C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.1458+23C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.1458+23C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.1458+23C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.1458+23C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.1458+23C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.1458+23C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.1458+23C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.1458+23C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.1458+23C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.1458+23C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.1458+23C>G||||||,C|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.*279C>G|||||695|,C|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545C>G|||||2185|,C|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.*563C>G|||||3876|,C|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.*757C>G|||||4446|,C|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.*562C>G|||||4527|,C|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.*558C>G|||||4760|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|12/19|c.1458+23C>G||||||,C|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|19/26|n.3666+23C>G||||||,C|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|11/18|c.1458+23C>G||||||,C|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|12/18|c.1458+23C>G||||||,C|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|12/19|c.1215+23C>G||||||,C|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|11/18|c.1356+23C>G||||||,C|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|14/21|c.849+23C>G||||||,C|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|15/22|n.*1689+23C>G||||||,C|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|12/18|c.1458+23C>G||||||,C|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron|1/4|n.95+23C>G||||||,C|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron|2/2|n.332+23C>G|||||| 22 51010668 . C T . . ANN=T|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|12/20|c.1422G>A|p.Ala474Ala|1473/2592|1422/2319|474/772||,T|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|11/19|c.1422G>A|p.Ala474Ala|1527/2647|1422/2319|474/772||,T|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|12/19|c.1422G>A|p.Ala474Ala|1560/2933|1422/2319|474/772||,T|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|12/20|c.1179G>A|p.Ala393Ala|1317/2436|1179/2076|393/691||,T|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|11/19|c.1320G>A|p.Ala440Ala|1458/2577|1320/2217|440/738||,T|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|14/22|c.813G>A|p.Ala271Ala|1773/2753|813/1704|271/567||,T|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|12/19|c.1422G>A|p.Ala474Ala|1511/2662|1422/2319|474/772||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.1422G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.1422G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.1422G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.1422G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.1422G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.1422G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.1422G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.1422G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.1422G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.1422G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.1422G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.1422G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.1422G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.1422G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.1422G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.1422G>A||||||,T|3_prime_UTR_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|15/23|n.*1653G>A|||||6942|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.*279G>A|||||636|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545G>A|||||2126|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.*563G>A|||||3817|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.*757G>A|||||4387|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.*562G>A|||||4468|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.*558G>A|||||4701|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|19/27|n.3630G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|15/23|n.*1653G>A||||||,T|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron|1/5|n.59G>A||||||,T|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron|2/3|n.296G>A|||||| 22 51010737 . C T . . ANN=T|splice_region_variant&synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|12/20|c.1353G>A|p.Arg451Arg|1404/2592|1353/2319|451/772||,T|splice_region_variant&non_coding_exon_variant|LOW|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|19/27|n.3561G>A||||||,T|splice_region_variant&synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|11/19|c.1353G>A|p.Arg451Arg|1458/2647|1353/2319|451/772||,T|splice_region_variant&synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|12/19|c.1353G>A|p.Arg451Arg|1491/2933|1353/2319|451/772||,T|splice_region_variant&synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|12/20|c.1110G>A|p.Arg370Arg|1248/2436|1110/2076|370/691||,T|splice_region_variant&synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|11/19|c.1251G>A|p.Arg417Arg|1389/2577|1251/2217|417/738||,T|splice_region_variant&synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|14/22|c.744G>A|p.Arg248Arg|1704/2753|744/1704|248/567||,T|splice_region_variant&non_coding_exon_variant|LOW|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|15/23|n.*1584G>A||||||,T|splice_region_variant&synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|12/19|c.1353G>A|p.Arg451Arg|1442/2662|1353/2319|451/772||,T|splice_region_variant&non_coding_exon_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron|2/3|n.227G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.1353G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.1353G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.1353G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.1353G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.1353G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.1353G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.1353G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.1353G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.1353G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.1353G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.1353G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.1353G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.1353G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.1353G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.1353G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.1353G>A||||||,T|3_prime_UTR_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|15/23|n.*1584G>A|||||6873|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron||n.-1G>A|||||11|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.*279G>A|||||567|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545G>A|||||2057|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.*563G>A|||||3748|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.*757G>A|||||4318|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.*562G>A|||||4399|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.*558G>A|||||4632|WARNING_TRANSCRIPT_INCOMPLETE 22 51010743 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|11/19|c.1353-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|18/26|n.3561-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|10/18|c.1353-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|11/18|c.1353-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|11/19|c.1110-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|10/18|c.1251-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|13/21|c.744-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|14/22|n.*1584-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|11/18|c.1353-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron|1/2|n.227-6C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.1353-6C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.1353-6C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.1353-6C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.1353-6C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.1353-6C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.1353-6C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.1353-6C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.1353-6C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.1353-6C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.1353-6C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.1353-6C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.1353-6C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.1353-6C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.1353-6C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.1353-6C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.1353-6C>T||||||,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron||n.-1C>T|||||17|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.*279C>T|||||561|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545C>T|||||2051|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.*563C>T|||||3742|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.*757C>T|||||4312|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.*562C>T|||||4393|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.*558C>T|||||4626|WARNING_TRANSCRIPT_INCOMPLETE 22 51011300 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|11/19|c.1352+4C>T||||||,A|splice_region_variant&intron_variant|LOW|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|18/26|n.3560+4C>T||||||,A|splice_region_variant&intron_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|10/18|c.1352+4C>T||||||,A|splice_region_variant&intron_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|11/18|c.1352+4C>T||||||,A|splice_region_variant&intron_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|11/19|c.1109+4C>T||||||,A|splice_region_variant&intron_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|10/18|c.1250+4C>T||||||,A|splice_region_variant&intron_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|13/21|c.743+4C>T||||||,A|splice_region_variant&intron_variant|LOW|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|14/22|n.*1583+4C>T||||||,A|splice_region_variant&intron_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|11/18|c.1352+4C>T||||||,A|splice_region_variant&intron_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron|1/2|n.226+4C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.1352+4C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.1352+4C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.1352+4C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.1352+4C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.1352+4C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.1352+4C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.1352+4C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.1352+4C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.1352+4C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.1352+4C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.1352+4C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.1352+4C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.1352+4C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.1352+4C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.1352+4C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.1352+4C>T||||||,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron||n.-1C>T|||||574|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.*279C>T|||||4|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545C>T|||||1494|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.*563C>T|||||3185|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.*757C>T|||||3755|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.*562C>T|||||3836|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.*558C>T|||||4069|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.*546C>T|||||4948| 22 51011348 . G A . . ANN=A|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|11/20|c.1308C>T|p.Leu436Leu|1359/2592|1308/2319|436/772||,A|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|10/19|c.1308C>T|p.Leu436Leu|1413/2647|1308/2319|436/772||,A|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|11/19|c.1308C>T|p.Leu436Leu|1446/2933|1308/2319|436/772||,A|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|11/20|c.1065C>T|p.Leu355Leu|1203/2436|1065/2076|355/691||,A|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|10/19|c.1206C>T|p.Leu402Leu|1344/2577|1206/2217|402/738||,A|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|13/22|c.699C>T|p.Leu233Leu|1659/2753|699/1704|233/567||,A|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|11/19|c.1308C>T|p.Leu436Leu|1397/2662|1308/2319|436/772||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.1308C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.1308C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.1308C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.1308C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.1308C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.1308C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.1308C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.1308C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.1308C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.1308C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.1308C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.1308C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.1308C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.1308C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.1308C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.1308C>T||||||,A|3_prime_UTR_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|14/23|n.*1539C>T|||||6262|,A|3_prime_UTR_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay|6/6|n.*396C>T|||||947|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron||n.-1C>T|||||622|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545C>T|||||1446|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.*563C>T|||||3137|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.*757C>T|||||3707|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.*562C>T|||||3788|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.*558C>T|||||4021|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.*546C>T|||||4900|,A|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|18/27|n.3516C>T||||||,A|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|14/23|n.*1539C>T||||||,A|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron|1/3|n.182C>T||||||,A|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay|6/6|n.*396C>T|||||| 22 51011376 . G C . . ANN=C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|11/20|c.1280C>G|p.Ser427Cys|1331/2592|1280/2319|427/772||,C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|10/19|c.1280C>G|p.Ser427Cys|1385/2647|1280/2319|427/772||,C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|11/19|c.1280C>G|p.Ser427Cys|1418/2933|1280/2319|427/772||,C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|10/19|c.1178C>G|p.Ser393Cys|1316/2577|1178/2217|393/738||,C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|13/22|c.671C>G|p.Ser224Cys|1631/2753|671/1704|224/567||,C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|11/19|c.1280C>G|p.Ser427Cys|1369/2662|1280/2319|427/772||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.1280C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.1280C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.1280C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.1280C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.1280C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.1280C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.1280C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.1280C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.1280C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.1280C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.1280C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.1280C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.1280C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.1280C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.1280C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.1280C>G||||||,C|3_prime_UTR_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|14/23|n.*1511C>G|||||6234|,C|3_prime_UTR_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay|6/6|n.*368C>G|||||919|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron||n.-1C>G|||||650|,C|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545C>G|||||1418|,C|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.*563C>G|||||3109|,C|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.*757C>G|||||3679|,C|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.*562C>G|||||3760|,C|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.*558C>G|||||3993|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.*546C>G|||||4872|,C|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|10/19|c.1062-25C>G||||||,C|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|18/27|n.3488C>G||||||,C|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|14/23|n.*1511C>G||||||,C|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron|1/3|n.154C>G||||||,C|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay|6/6|n.*368C>G|||||| 22 51011453 . G A . . ANN=A|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|11/20|c.1203C>T|p.Ser401Ser|1254/2592|1203/2319|401/772||,A|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|10/19|c.1203C>T|p.Ser401Ser|1308/2647|1203/2319|401/772||,A|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|11/19|c.1203C>T|p.Ser401Ser|1341/2933|1203/2319|401/772||,A|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|10/19|c.1101C>T|p.Ser367Ser|1239/2577|1101/2217|367/738||,A|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|13/22|c.594C>T|p.Ser198Ser|1554/2753|594/1704|198/567||,A|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|11/19|c.1203C>T|p.Ser401Ser|1292/2662|1203/2319|401/772||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.1203C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.1203C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.1203C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.1203C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.1203C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.1203C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.1203C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.1203C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.1203C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.1203C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.1203C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.1203C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.1203C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.1203C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.1203C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.1203C>T||||||,A|3_prime_UTR_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|14/23|n.*1434C>T|||||6157|,A|3_prime_UTR_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay|6/6|n.*291C>T|||||842|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron||n.-1C>T|||||727|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545C>T|||||1341|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.*563C>T|||||3032|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.*757C>T|||||3602|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.*562C>T|||||3683|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.*558C>T|||||3916|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.*546C>T|||||4795|,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|10/19|c.1062-102C>T||||||,A|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|18/27|n.3411C>T||||||,A|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|14/23|n.*1434C>T||||||,A|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron|1/3|n.77C>T||||||,A|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay|6/6|n.*291C>T|||||| 22 51011522 . G A . . ANN=A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.1167-33C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.1167-33C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.1167-33C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.1167-33C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.1167-33C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.1167-33C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.1167-33C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.1167-33C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.1167-33C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.1167-33C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.1167-33C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.1167-33C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.1167-33C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.1167-33C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.1167-33C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.1167-33C>T||||||,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron||n.-1C>T|||||796|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545C>T|||||1272|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.*563C>T|||||2963|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.*757C>T|||||3533|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.*562C>T|||||3614|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.*558C>T|||||3847|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.*546C>T|||||4726|,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|10/19|c.1167-33C>T||||||,A|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|17/26|n.3375-33C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|9/18|c.1167-33C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|10/18|c.1167-33C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|10/19|c.1062-171C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|9/18|c.1065-33C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|12/21|c.558-33C>T||||||,A|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|13/22|n.*1398-33C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|10/18|c.1167-33C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay|5/5|n.*255-33C>T||||||,A|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron|1/3|n.8C>T|||||| 22 51011926 . A G . . ANN=G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.1166+23T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.1166+23T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.1166+23T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.1166+23T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.1166+23T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.1166+23T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.1166+23T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.1166+23T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.1166+23T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.1166+23T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.1166+23T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.1166+23T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.1166+23T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.1166+23T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.1166+23T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.1166+23T>C||||||,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron||n.-1T>C|||||1200|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.-1T>C|||||397|,G|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545T>C|||||868|,G|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.*563T>C|||||2559|,G|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.*757T>C|||||3129|,G|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.*562T>C|||||3210|,G|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.*558T>C|||||3443|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.*546T>C|||||4322|,G|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|10/19|c.1166+23T>C||||||,G|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|17/26|n.3374+23T>C||||||,G|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|9/18|c.1166+23T>C||||||,G|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|10/18|c.1166+23T>C||||||,G|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|10/19|c.1061+128T>C||||||,G|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|9/18|c.1064+23T>C||||||,G|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|12/21|c.557+23T>C||||||,G|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|13/22|n.*1397+23T>C||||||,G|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|10/18|c.1166+23T>C||||||,G|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay|5/5|n.*254+23T>C|||||| 22 51011936 . T C . . ANN=C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.1166+13A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.1166+13A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.1166+13A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.1166+13A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.1166+13A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.1166+13A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.1166+13A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.1166+13A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.1166+13A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.1166+13A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.1166+13A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.1166+13A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.1166+13A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.1166+13A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.1166+13A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.1166+13A>G||||||,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron||n.-1A>G|||||1210|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.-1A>G|||||407|,C|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545A>G|||||858|,C|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.*563A>G|||||2549|,C|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.*757A>G|||||3119|,C|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.*562A>G|||||3200|,C|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.*558A>G|||||3433|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.*546A>G|||||4312|,C|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|10/19|c.1166+13A>G||||||,C|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|17/26|n.3374+13A>G||||||,C|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|9/18|c.1166+13A>G||||||,C|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|10/18|c.1166+13A>G||||||,C|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|10/19|c.1061+118A>G||||||,C|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|9/18|c.1064+13A>G||||||,C|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|12/21|c.557+13A>G||||||,C|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|13/22|n.*1397+13A>G||||||,C|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|10/18|c.1166+13A>G||||||,C|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay|5/5|n.*254+13A>G|||||| 22 51012057 . C T . . ANN=T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|10/20|c.1058G>A|p.Arg353His|1109/2592|1058/2319|353/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|9/19|c.1058G>A|p.Arg353His|1163/2647|1058/2319|353/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|10/19|c.1058G>A|p.Arg353His|1196/2933|1058/2319|353/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|10/20|c.1058G>A|p.Arg353His|1196/2436|1058/2076|353/691||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|9/19|c.956G>A|p.Arg319His|1094/2577|956/2217|319/738||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|12/22|c.449G>A|p.Arg150His|1409/2753|449/1704|150/567||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|10/19|c.1058G>A|p.Arg353His|1147/2662|1058/2319|353/772||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.1058G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.1058G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.1058G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.1058G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.1058G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.1058G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.1058G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.1058G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.1058G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.1058G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.1058G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.1058G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.1058G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.1058G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.1058G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.1058G>A||||||,T|3_prime_UTR_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|13/23|n.*1289G>A|||||5553|,T|3_prime_UTR_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay|5/6|n.*146G>A|||||238|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron||n.-1G>A|||||1331|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.-1G>A|||||528|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545G>A|||||737|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.*563G>A|||||2428|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.*757G>A|||||2998|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.*562G>A|||||3079|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.*558G>A|||||3312|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.*546G>A|||||4191|,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|17/27|n.3266G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|13/23|n.*1289G>A||||||,T|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay|5/6|n.*146G>A|||||| 22 51012117 . C T . . ANN=T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|10/20|c.998G>A|p.Arg333Gln|1049/2592|998/2319|333/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|9/19|c.998G>A|p.Arg333Gln|1103/2647|998/2319|333/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|10/19|c.998G>A|p.Arg333Gln|1136/2933|998/2319|333/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|10/20|c.998G>A|p.Arg333Gln|1136/2436|998/2076|333/691||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|9/19|c.896G>A|p.Arg299Gln|1034/2577|896/2217|299/738||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|12/22|c.389G>A|p.Arg130Gln|1349/2753|389/1704|130/567||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|10/19|c.998G>A|p.Arg333Gln|1087/2662|998/2319|333/772||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.998G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.998G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.998G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.998G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.998G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.998G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.998G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.998G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.998G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.998G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.998G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.998G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.998G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.998G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.998G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.998G>A||||||,T|3_prime_UTR_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|13/23|n.*1229G>A|||||5493|,T|3_prime_UTR_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay|5/6|n.*86G>A|||||178|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron||n.-1G>A|||||1391|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.-1G>A|||||588|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545G>A|||||677|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.*563G>A|||||2368|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.*757G>A|||||2938|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.*562G>A|||||3019|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.*558G>A|||||3252|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.*546G>A|||||4131|,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|17/27|n.3206G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|13/23|n.*1229G>A||||||,T|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay|5/6|n.*86G>A|||||| 22 51012175 . G A . . ANN=A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.971-31C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.971-31C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.971-31C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.971-31C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.971-31C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.971-31C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.971-31C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.971-31C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.971-31C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.971-31C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.971-31C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.971-31C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.971-31C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.971-31C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.971-31C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.971-31C>T||||||,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron||n.-1C>T|||||1449|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.-1C>T|||||646|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545C>T|||||619|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.*563C>T|||||2310|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.*757C>T|||||2880|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.*562C>T|||||2961|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.*558C>T|||||3194|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.*546C>T|||||4073|,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|9/19|c.971-31C>T||||||,A|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|16/26|n.3179-31C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|8/18|c.971-31C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|9/18|c.971-31C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|9/19|c.971-31C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|8/18|c.869-31C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|11/21|c.362-31C>T||||||,A|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|12/22|n.*1202-31C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|9/18|c.971-31C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay|4/5|n.*59-31C>T|||||| 22 51012775 . C T . . ANN=T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|9/20|c.959G>A|p.Gly320Asp|1010/2592|959/2319|320/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|8/19|c.959G>A|p.Gly320Asp|1064/2647|959/2319|320/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|9/19|c.959G>A|p.Gly320Asp|1097/2933|959/2319|320/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|9/20|c.959G>A|p.Gly320Asp|1097/2436|959/2076|320/691||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|8/19|c.857G>A|p.Gly286Asp|995/2577|857/2217|286/738||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|11/22|c.350G>A|p.Gly117Asp|1310/2753|350/1704|117/567||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|9/19|c.959G>A|p.Gly320Asp|1048/2662|959/2319|320/772||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.959G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.959G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.959G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.959G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.959G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.959G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.959G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.959G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.959G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.959G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.959G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.959G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.959G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.959G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.959G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.959G>A||||||,T|3_prime_UTR_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|12/23|n.*1190G>A|||||4835|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron||n.-1G>A|||||2049|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.-1G>A|||||1246|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding||c.*1406G>A|||||4603|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545G>A|||||19|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.*563G>A|||||1710|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.*757G>A|||||2280|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.*562G>A|||||2361|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.*558G>A|||||2594|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.*546G>A|||||3473|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron||n.*2069G>A|||||4613|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript||n.*624G>A|||||4617|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript||n.*657G>A|||||4617|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron||n.*1401G>A|||||4617|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron||n.*1856G>A|||||4617|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron||n.*2114G>A|||||4620|,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|16/27|n.3167G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|12/23|n.*1190G>A||||||,T|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay|3/6|n.212G>A|||||| 22 51012777 . C T . . ANN=T|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|9/20|c.957G>A|p.Pro319Pro|1008/2592|957/2319|319/772||,T|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|8/19|c.957G>A|p.Pro319Pro|1062/2647|957/2319|319/772||,T|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|9/19|c.957G>A|p.Pro319Pro|1095/2933|957/2319|319/772||,T|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|9/20|c.957G>A|p.Pro319Pro|1095/2436|957/2076|319/691||,T|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|8/19|c.855G>A|p.Pro285Pro|993/2577|855/2217|285/738||,T|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|11/22|c.348G>A|p.Pro116Pro|1308/2753|348/1704|116/567||,T|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|9/19|c.957G>A|p.Pro319Pro|1046/2662|957/2319|319/772||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.957G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.957G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.957G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.957G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.957G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.957G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.957G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.957G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.957G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.957G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.957G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.957G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.957G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.957G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.957G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.957G>A||||||,T|3_prime_UTR_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|12/23|n.*1188G>A|||||4833|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron||n.-1G>A|||||2051|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.-1G>A|||||1248|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding||c.*1406G>A|||||4601|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545G>A|||||17|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.*563G>A|||||1708|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.*757G>A|||||2278|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.*562G>A|||||2359|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.*558G>A|||||2592|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.*546G>A|||||3471|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron||n.*2069G>A|||||4611|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript||n.*624G>A|||||4615|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript||n.*657G>A|||||4615|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron||n.*1401G>A|||||4615|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron||n.*1856G>A|||||4615|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron||n.*2114G>A|||||4618|,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|16/27|n.3165G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|12/23|n.*1188G>A||||||,T|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay|3/6|n.210G>A|||||| 22 51012854 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|8/19|c.886-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|15/26|n.3094-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|7/18|c.886-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|8/18|c.886-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|8/19|c.886-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|7/18|c.784-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|10/21|c.277-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|11/22|n.*1117-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|8/18|c.886-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay|2/5|n.139-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron|1/1|n.491-6C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.886-6C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.886-6C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.886-6C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.886-6C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.886-6C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.886-6C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.886-6C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.886-6C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.886-6C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.886-6C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.886-6C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.886-6C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.886-6C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.886-6C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.886-6C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.886-6C>T||||||,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron||n.-1C>T|||||2128|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.-1C>T|||||1325|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding||c.*1406C>T|||||4524|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.*563C>T|||||1631|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.*757C>T|||||2201|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.*562C>T|||||2282|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.*558C>T|||||2515|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.*546C>T|||||3394|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron||n.*2069C>T|||||4534|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript||n.*624C>T|||||4538|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript||n.*657C>T|||||4538|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron||n.*1401C>T|||||4538|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron||n.*1856C>T|||||4538|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron||n.*2114C>T|||||4541| 22 51012979 . G T . . ANN=T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|8/20|c.828C>A|p.Asn276Lys|879/2592|828/2319|276/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|7/19|c.828C>A|p.Asn276Lys|933/2647|828/2319|276/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|8/19|c.828C>A|p.Asn276Lys|966/2933|828/2319|276/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|8/20|c.828C>A|p.Asn276Lys|966/2436|828/2076|276/691||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|7/19|c.726C>A|p.Asn242Lys|864/2577|726/2217|242/738||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|10/22|c.219C>A|p.Asn73Lys|1179/2753|219/1704|73/567||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|8/19|c.828C>A|p.Asn276Lys|917/2662|828/2319|276/772||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.828C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.828C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.828C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.828C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.828C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.828C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.828C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.828C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.828C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.828C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.828C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.828C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.828C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.828C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.828C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.828C>A||||||,T|3_prime_UTR_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|11/23|n.*1059C>A|||||4631|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron||n.-1C>A|||||2253|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.-1C>A|||||1450|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding||c.*1406C>A|||||4399|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.*563C>A|||||1506|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.*757C>A|||||2076|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.*562C>A|||||2157|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.*558C>A|||||2390|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.*546C>A|||||3269|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron||n.*2069C>A|||||4409|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript||n.*624C>A|||||4413|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript||n.*657C>A|||||4413|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron||n.*1401C>A|||||4413|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron||n.*1856C>A|||||4413|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron||n.*2114C>A|||||4416|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000468532|retained_intron||n.*1052C>A|||||4900|,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|15/27|n.3036C>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|11/23|n.*1059C>A||||||,T|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay|2/6|n.81C>A||||||,T|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron|1/2|n.433C>A|||||| 22 51013003 . G A . . ANN=A|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|8/20|c.804C>T|p.Asp268Asp|855/2592|804/2319|268/772||,A|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|7/19|c.804C>T|p.Asp268Asp|909/2647|804/2319|268/772||,A|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|8/19|c.804C>T|p.Asp268Asp|942/2933|804/2319|268/772||,A|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|8/20|c.804C>T|p.Asp268Asp|942/2436|804/2076|268/691||,A|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|7/19|c.702C>T|p.Asp234Asp|840/2577|702/2217|234/738||,A|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|10/22|c.195C>T|p.Asp65Asp|1155/2753|195/1704|65/567||,A|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|8/19|c.804C>T|p.Asp268Asp|893/2662|804/2319|268/772||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.804C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.804C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.804C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.804C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.804C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.804C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.804C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.804C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.804C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.804C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.804C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.804C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.804C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.804C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.804C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.804C>T||||||,A|3_prime_UTR_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|11/23|n.*1035C>T|||||4607|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron||n.-1C>T|||||2277|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.-1C>T|||||1474|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding||c.*1406C>T|||||4375|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.*563C>T|||||1482|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.*757C>T|||||2052|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.*562C>T|||||2133|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.*558C>T|||||2366|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.*546C>T|||||3245|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron||n.*2069C>T|||||4385|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript||n.*624C>T|||||4389|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript||n.*657C>T|||||4389|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron||n.*1401C>T|||||4389|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron||n.*1856C>T|||||4389|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron||n.*2114C>T|||||4392|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000468532|retained_intron||n.*1052C>T|||||4876|,A|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|15/27|n.3012C>T||||||,A|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|11/23|n.*1035C>T||||||,A|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay|2/6|n.57C>T||||||,A|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron|1/2|n.409C>T|||||| 22 51013072 . G A . . ANN=A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.778-43C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.778-43C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.778-43C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.778-43C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.778-43C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.778-43C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.778-43C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.778-43C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.778-43C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.778-43C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.778-43C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.778-43C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.778-43C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.778-43C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.778-43C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.778-43C>T||||||,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron||n.-1C>T|||||2346|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.-1C>T|||||1543|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding||c.*1406C>T|||||4306|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.*563C>T|||||1413|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.*757C>T|||||1983|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.*562C>T|||||2064|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.*558C>T|||||2297|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.*546C>T|||||3176|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron||n.*2069C>T|||||4316|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript||n.*624C>T|||||4320|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript||n.*657C>T|||||4320|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron||n.*1401C>T|||||4320|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron||n.*1856C>T|||||4320|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron||n.*2114C>T|||||4323|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000468532|retained_intron||n.*1052C>T|||||4807|,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|7/19|c.778-43C>T||||||,A|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|14/26|n.2986-43C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|6/18|c.778-43C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|7/18|c.778-43C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|7/19|c.778-43C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|6/18|c.676-43C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|9/21|c.169-43C>T||||||,A|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|10/22|n.*1009-43C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|7/18|c.778-43C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay|1/5|n.31-43C>T||||||,A|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron|1/2|n.340C>T|||||| 22 51014691 . T C . . ANN=C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|6/20|c.635A>G|p.Gln212Arg|686/2592|635/2319|212/772||,C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|5/19|c.635A>G|p.Gln212Arg|740/2647|635/2319|212/772||,C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|6/19|c.635A>G|p.Gln212Arg|773/2933|635/2319|212/772||,C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|6/20|c.635A>G|p.Gln212Arg|773/2436|635/2076|212/691||,C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|5/19|c.533A>G|p.Gln178Arg|671/2577|533/2217|178/738||,C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|8/22|c.26A>G|p.Gln9Arg|986/2753|26/1704|9/567||,C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|6/19|c.635A>G|p.Gln212Arg|724/2662|635/2319|212/772||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.635A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.635A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.635A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.635A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.635A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.635A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.635A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.635A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.635A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.635A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.635A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.635A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.635A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.635A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.635A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.635A>G||||||,C|3_prime_UTR_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|9/23|n.*866A>G|||||2919|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron||n.-1A>G|||||3965|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.-1A>G|||||3162|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.-1A>G|||||198|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.-1A>G|||||1280|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding||c.*1406A>G|||||2687|,C|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.*757A>G|||||364|,C|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.*562A>G|||||445|,C|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.*558A>G|||||678|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.*546A>G|||||1557|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron||n.*2069A>G|||||2697|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript||n.*624A>G|||||2701|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript||n.*657A>G|||||2701|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron||n.*1401A>G|||||2701|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron||n.*1856A>G|||||2701|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron||n.*2114A>G|||||2704|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000468532|retained_intron||n.*1052A>G|||||3188|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000489453|retained_intron||n.*722A>G|||||3542|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000476289|retained_intron||n.*1010A>G|||||4095|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000463053|processed_transcript||n.*886A>G|||||4095|,C|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|13/27|n.2843A>G||||||,C|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|9/23|n.*866A>G||||||,C|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron|2/3|n.442A>G|||||| 22 51014787 . C T . . ANN=T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.562-23G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.562-23G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.562-23G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.562-23G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.562-23G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.562-23G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.562-23G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.562-23G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.562-23G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.562-23G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.562-23G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.562-23G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.562-23G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.562-23G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.562-23G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.562-23G>A||||||,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron||n.-1G>A|||||4061|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.-1G>A|||||3258|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.-1G>A|||||294|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.-1G>A|||||1376|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding||c.*1406G>A|||||2591|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.*757G>A|||||268|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.*562G>A|||||349|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.*558G>A|||||582|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.*546G>A|||||1461|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron||n.*2069G>A|||||2601|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript||n.*624G>A|||||2605|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript||n.*657G>A|||||2605|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron||n.*1401G>A|||||2605|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron||n.*1856G>A|||||2605|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron||n.*2114G>A|||||2608|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000468532|retained_intron||n.*1052G>A|||||3092|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000489453|retained_intron||n.*722G>A|||||3446|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000476289|retained_intron||n.*1010G>A|||||3999|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000463053|processed_transcript||n.*886G>A|||||3999|,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|5/19|c.562-23G>A||||||,T|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|12/26|n.2770-23G>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|4/18|c.562-23G>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|5/18|c.562-23G>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|5/19|c.562-23G>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|4/18|c.460-23G>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|7/21|c.-48-23G>A||||||,T|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|8/22|n.*793-23G>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|5/18|c.562-23G>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron|1/2|n.369-23G>A|||||| 22 51014925 . A T . . ANN=T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.561+40T>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.561+40T>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.561+40T>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.561+40T>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.561+40T>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.561+40T>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.561+40T>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.561+40T>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.561+40T>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.561+40T>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.561+40T>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.561+40T>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.561+40T>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.561+40T>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.561+40T>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.561+40T>A||||||,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron||n.-1T>A|||||4199|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.-1T>A|||||3396|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.-1T>A|||||432|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.-1T>A|||||1514|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding||c.*1406T>A|||||2453|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.*757T>A|||||130|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.*562T>A|||||211|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.*558T>A|||||444|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.*546T>A|||||1323|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron||n.*2069T>A|||||2463|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript||n.*624T>A|||||2467|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript||n.*657T>A|||||2467|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron||n.*1401T>A|||||2467|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron||n.*1856T>A|||||2467|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron||n.*2114T>A|||||2470|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000468532|retained_intron||n.*1052T>A|||||2954|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000489453|retained_intron||n.*722T>A|||||3308|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000476289|retained_intron||n.*1010T>A|||||3861|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000463053|processed_transcript||n.*886T>A|||||3861|,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|5/19|c.561+40T>A||||||,T|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|12/26|n.2769+40T>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|4/18|c.561+40T>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|5/18|c.561+40T>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|5/19|c.561+40T>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|4/18|c.460-161T>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|7/21|c.-49+40T>A||||||,T|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|8/22|n.*792+40T>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|5/18|c.561+40T>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron|1/2|n.368+40T>A|||||| 22 51014966 . C A,T . . ANN=A|missense_variant&splice_region_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|5/20|c.560G>T|p.Arg187Leu|611/2592|560/2319|187/772||,T|missense_variant&splice_region_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|5/20|c.560G>A|p.Arg187Gln|611/2592|560/2319|187/772||,A|missense_variant&splice_region_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|4/19|c.560G>T|p.Arg187Leu|665/2647|560/2319|187/772||,T|missense_variant&splice_region_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|4/19|c.560G>A|p.Arg187Gln|665/2647|560/2319|187/772||,A|missense_variant&splice_region_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|5/19|c.560G>T|p.Arg187Leu|698/2933|560/2319|187/772||,T|missense_variant&splice_region_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|5/19|c.560G>A|p.Arg187Gln|698/2933|560/2319|187/772||,A|missense_variant&splice_region_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|5/20|c.560G>T|p.Arg187Leu|698/2436|560/2076|187/691||,T|missense_variant&splice_region_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|5/20|c.560G>A|p.Arg187Gln|698/2436|560/2076|187/691||,A|missense_variant&splice_region_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|5/19|c.560G>T|p.Arg187Leu|649/2662|560/2319|187/772||,T|missense_variant&splice_region_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|5/19|c.560G>A|p.Arg187Gln|649/2662|560/2319|187/772||,A|splice_region_variant&non_coding_exon_variant|LOW|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|12/27|n.2768G>T||||||,T|splice_region_variant&non_coding_exon_variant|LOW|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|12/27|n.2768G>A||||||,A|splice_region_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|7/22|c.-50G>T||||||,T|splice_region_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|7/22|c.-50G>A||||||,A|splice_region_variant&non_coding_exon_variant|LOW|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|8/23|n.*791G>T||||||,T|splice_region_variant&non_coding_exon_variant|LOW|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|8/23|n.*791G>A||||||,A|splice_region_variant&non_coding_exon_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron|1/3|n.367G>T||||||,T|splice_region_variant&non_coding_exon_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron|1/3|n.367G>A||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|7/22|c.-50G>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.560G>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.560G>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.560G>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.560G>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.560G>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.560G>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.560G>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.560G>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.560G>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.560G>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.560G>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.560G>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.560G>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.560G>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.560G>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.560G>T||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.560G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.560G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.560G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.560G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.560G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.560G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.560G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.560G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.560G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.560G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.560G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.560G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.560G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.560G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.560G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.560G>A||||||,A|5_prime_UTR_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|7/22|c.-50G>T|||||250|,T|5_prime_UTR_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|7/22|c.-50G>A|||||250|,A|3_prime_UTR_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|8/23|n.*791G>T|||||2644|,T|3_prime_UTR_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|8/23|n.*791G>A|||||2644|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron||n.-1G>T|||||4240|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron||n.-1G>A|||||4240|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.-1G>T|||||3437|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.-1G>A|||||3437|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.-1G>T|||||473|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.-1G>A|||||473|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.-1G>T|||||1555|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.-1G>A|||||1555|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding||c.*1406G>T|||||2412|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding||c.*1406G>A|||||2412|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.*757G>T|||||89|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.*757G>A|||||89|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.*562G>T|||||170|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.*562G>A|||||170|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.*558G>T|||||403|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.*558G>A|||||403|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.*546G>T|||||1282|,T|downstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.*546G>A|||||1282|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron||n.*2069G>T|||||2422|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron||n.*2069G>A|||||2422|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript||n.*624G>T|||||2426|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript||n.*624G>A|||||2426|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript||n.*657G>T|||||2426|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript||n.*657G>A|||||2426|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron||n.*1401G>T|||||2426|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron||n.*1401G>A|||||2426|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron||n.*1856G>T|||||2426|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron||n.*1856G>A|||||2426|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron||n.*2114G>T|||||2429|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron||n.*2114G>A|||||2429|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000468532|retained_intron||n.*1052G>T|||||2913|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000468532|retained_intron||n.*1052G>A|||||2913|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000489453|retained_intron||n.*722G>T|||||3267|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000489453|retained_intron||n.*722G>A|||||3267|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000476289|retained_intron||n.*1010G>T|||||3820|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000476289|retained_intron||n.*1010G>A|||||3820|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000463053|processed_transcript||n.*886G>T|||||3820|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000463053|processed_transcript||n.*886G>A|||||3820|,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|4/18|c.460-202G>T||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|4/18|c.460-202G>A|||||| 22 51015003 . T C . . ANN=C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|5/20|c.523A>G|p.Lys175Glu|574/2592|523/2319|175/772||,C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|4/19|c.523A>G|p.Lys175Glu|628/2647|523/2319|175/772||,C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|5/19|c.523A>G|p.Lys175Glu|661/2933|523/2319|175/772||,C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|5/20|c.523A>G|p.Lys175Glu|661/2436|523/2076|175/691||,C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|5/19|c.523A>G|p.Lys175Glu|612/2662|523/2319|175/772||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.523A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.523A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.523A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.523A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.523A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.523A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.523A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.523A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.523A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.523A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.523A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.523A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.523A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.523A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.523A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.523A>G||||||,C|5_prime_UTR_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|7/22|c.-87A>G|||||287|,C|3_prime_UTR_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|8/23|n.*754A>G|||||2607|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron||n.-1A>G|||||4277|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.-1A>G|||||3474|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.-1A>G|||||510|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.-1A>G|||||1592|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding||c.*1406A>G|||||2375|,C|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.*757A>G|||||52|,C|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.*562A>G|||||133|,C|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.*558A>G|||||366|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.*546A>G|||||1245|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron||n.*2069A>G|||||2385|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript||n.*624A>G|||||2389|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript||n.*657A>G|||||2389|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron||n.*1401A>G|||||2389|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron||n.*1856A>G|||||2389|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron||n.*2114A>G|||||2392|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000468532|retained_intron||n.*1052A>G|||||2876|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000489453|retained_intron||n.*722A>G|||||3230|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000476289|retained_intron||n.*1010A>G|||||3783|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000463053|processed_transcript||n.*886A>G|||||3783|,C|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|4/18|c.460-239A>G||||||,C|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|12/27|n.2731A>G||||||,C|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|8/23|n.*754A>G||||||,C|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron|1/3|n.330A>G|||||| 22 51015069 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|4/19|c.460-3C>T||||||,A|splice_region_variant&intron_variant|LOW|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|11/26|n.2668-3C>T||||||,A|splice_region_variant&intron_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|3/18|c.460-3C>T||||||,A|splice_region_variant&intron_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|4/18|c.460-3C>T||||||,A|splice_region_variant&intron_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|4/19|c.460-3C>T||||||,A|splice_region_variant&intron_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|4/18|c.460-3C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.460-3C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.460-3C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.460-3C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.460-3C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.460-3C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.460-3C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.460-3C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.460-3C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.460-3C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.460-3C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.460-3C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.460-3C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.460-3C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.460-3C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.460-3C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.460-3C>T||||||,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron||n.-1C>T|||||4343|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.-1C>T|||||3540|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.-1C>T|||||576|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.-1C>T|||||1658|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding||c.*1406C>T|||||2309|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.*562C>T|||||67|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.*558C>T|||||300|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.*546C>T|||||1179|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron||n.*2069C>T|||||2319|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript||n.*624C>T|||||2323|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript||n.*657C>T|||||2323|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron||n.*1401C>T|||||2323|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron||n.*1856C>T|||||2323|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron||n.*2114C>T|||||2326|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000468532|retained_intron||n.*1052C>T|||||2810|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000489453|retained_intron||n.*722C>T|||||3164|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000476289|retained_intron||n.*1010C>T|||||3717|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000463053|processed_transcript||n.*886C>T|||||3717|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000465842|retained_intron||n.*428C>T|||||4967|,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|4/18|c.459+217C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|6/21|c.-106-47C>T||||||,A|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|7/22|n.*735-47C>T||||||,A|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron|1/3|n.264C>T||||||,A|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron|4/4|n.743C>T|||||| 22 51015403 . C A . . ANN=A|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|4/20|c.342G>T|p.Thr114Thr|393/2592|342/2319|114/772||,A|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|3/19|c.342G>T|p.Thr114Thr|447/2647|342/2319|114/772||,A|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|4/19|c.342G>T|p.Thr114Thr|480/2933|342/2319|114/772||,A|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|4/20|c.342G>T|p.Thr114Thr|480/2436|342/2076|114/691||,A|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|4/19|c.342G>T|p.Thr114Thr|480/2577|342/2217|114/738||,A|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|4/19|c.342G>T|p.Thr114Thr|431/2662|342/2319|114/772||,A|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding|4/4|c.342G>T|p.Thr114Thr|524/558|342/376|114/124||WARNING_TRANSCRIPT_INCOMPLETE,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|6/22|c.-224G>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|transmembrane_region:Transmembrane_region|ENST00000312108|protein_coding|4/20|c.342G>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|transmembrane_region:Transmembrane_region|ENST00000440709|protein_coding|4/20|c.342G>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|transmembrane_region:Transmembrane_region|ENST00000457250|protein_coding|4/19|c.342G>T||||||,A|5_prime_UTR_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|6/22|c.-224G>T|||||687|,A|3_prime_UTR_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|7/23|n.*617G>T|||||2207|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron||n.-1G>T|||||4677|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.-1G>T|||||3874|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.-1G>T|||||910|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.-1G>T|||||1992|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.-1G>T|||||71|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding||c.*1406G>T|||||1975|,A|downstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.*546G>T|||||845|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron||n.*2069G>T|||||1985|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript||n.*624G>T|||||1989|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript||n.*657G>T|||||1989|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron||n.*1401G>T|||||1989|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron||n.*1856G>T|||||1989|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron||n.*2114G>T|||||1992|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000468532|retained_intron||n.*1052G>T|||||2476|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000489453|retained_intron||n.*722G>T|||||2830|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000476289|retained_intron||n.*1010G>T|||||3383|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000463053|processed_transcript||n.*886G>T|||||3383|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000465842|retained_intron||n.*428G>T|||||4633|,A|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|11/27|n.2550G>T||||||,A|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|7/23|n.*617G>T||||||,A|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron|4/4|n.409G>T||||||,A|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron|3/3|n.295G>T|||||| 22 51015481 . G A . . ANN=A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Mitochondrial_intermembrane|ENST00000312108|protein_coding|3/20|c.282-18C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Mitochondrial_intermembrane|ENST00000312108|protein_coding|4/20|c.282-18C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Mitochondrial_intermembrane|ENST00000440709|protein_coding|3/20|c.282-18C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Mitochondrial_intermembrane|ENST00000440709|protein_coding|4/20|c.282-18C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Mitochondrial_intermembrane|ENST00000457250|protein_coding|3/19|c.282-18C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Mitochondrial_intermembrane|ENST00000457250|protein_coding|4/19|c.282-18C>T||||||,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron||n.-1C>T|||||4755|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.-1C>T|||||3952|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.-1C>T|||||988|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.-1C>T|||||2070|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.-1C>T|||||149|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding||c.*1406C>T|||||1897|,A|downstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.*546C>T|||||767|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron||n.*2069C>T|||||1907|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript||n.*624C>T|||||1911|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript||n.*657C>T|||||1911|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron||n.*1401C>T|||||1911|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron||n.*1856C>T|||||1911|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron||n.*2114C>T|||||1914|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000468532|retained_intron||n.*1052C>T|||||2398|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000489453|retained_intron||n.*722C>T|||||2752|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000476289|retained_intron||n.*1010C>T|||||3305|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000463053|processed_transcript||n.*886C>T|||||3305|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000465842|retained_intron||n.*428C>T|||||4555|,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|3/19|c.282-18C>T||||||,A|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|10/26|n.2490-18C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|2/18|c.282-18C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|3/18|c.282-18C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|3/19|c.282-18C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|3/18|c.282-18C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|5/21|c.-284-18C>T||||||,A|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|6/22|n.*557-18C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|3/18|c.282-18C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron|3/3|n.349-18C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron|2/2|n.235-18C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding|3/3|c.282-18C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 51015490 . G A . . ANN=A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Mitochondrial_intermembrane|ENST00000312108|protein_coding|3/20|c.282-27C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Mitochondrial_intermembrane|ENST00000312108|protein_coding|4/20|c.282-27C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Mitochondrial_intermembrane|ENST00000440709|protein_coding|3/20|c.282-27C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Mitochondrial_intermembrane|ENST00000440709|protein_coding|4/20|c.282-27C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Mitochondrial_intermembrane|ENST00000457250|protein_coding|3/19|c.282-27C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Mitochondrial_intermembrane|ENST00000457250|protein_coding|4/19|c.282-27C>T||||||,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron||n.-1C>T|||||4764|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.-1C>T|||||3961|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.-1C>T|||||997|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.-1C>T|||||2079|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.-1C>T|||||158|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding||c.*1406C>T|||||1888|,A|downstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.*546C>T|||||758|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron||n.*2069C>T|||||1898|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript||n.*624C>T|||||1902|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript||n.*657C>T|||||1902|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron||n.*1401C>T|||||1902|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron||n.*1856C>T|||||1902|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron||n.*2114C>T|||||1905|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000468532|retained_intron||n.*1052C>T|||||2389|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000489453|retained_intron||n.*722C>T|||||2743|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000476289|retained_intron||n.*1010C>T|||||3296|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000463053|processed_transcript||n.*886C>T|||||3296|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000465842|retained_intron||n.*428C>T|||||4546|,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|3/19|c.282-27C>T||||||,A|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|10/26|n.2490-27C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|2/18|c.282-27C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|3/18|c.282-27C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|3/19|c.282-27C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|3/18|c.282-27C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|5/21|c.-284-27C>T||||||,A|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|6/22|n.*557-27C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|3/18|c.282-27C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron|3/3|n.349-27C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron|2/2|n.235-27C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding|3/3|c.282-27C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 51015706 . C T . . ANN=T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Mitochondrial_intermembrane|ENST00000312108|protein_coding|3/20|c.281+47G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Mitochondrial_intermembrane|ENST00000312108|protein_coding|4/20|c.281+47G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Mitochondrial_intermembrane|ENST00000440709|protein_coding|3/20|c.281+47G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Mitochondrial_intermembrane|ENST00000440709|protein_coding|4/20|c.281+47G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Mitochondrial_intermembrane|ENST00000457250|protein_coding|3/19|c.281+47G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Mitochondrial_intermembrane|ENST00000457250|protein_coding|4/19|c.281+47G>A||||||,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron||n.-1G>A|||||4980|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.-1G>A|||||4177|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.-1G>A|||||1213|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.-1G>A|||||2295|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.-1G>A|||||374|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding||c.*1406G>A|||||1672|,T|downstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.*546G>A|||||542|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron||n.*2069G>A|||||1682|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript||n.*624G>A|||||1686|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript||n.*657G>A|||||1686|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron||n.*1401G>A|||||1686|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron||n.*1856G>A|||||1686|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron||n.*2114G>A|||||1689|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000468532|retained_intron||n.*1052G>A|||||2173|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000489453|retained_intron||n.*722G>A|||||2527|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000476289|retained_intron||n.*1010G>A|||||3080|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000463053|processed_transcript||n.*886G>A|||||3080|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000465842|retained_intron||n.*428G>A|||||4330|,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|3/19|c.281+47G>A||||||,T|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|10/26|n.2489+47G>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|2/18|c.281+47G>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|3/18|c.281+47G>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|3/19|c.281+47G>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|3/18|c.281+47G>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|5/21|c.-285+47G>A||||||,T|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|6/22|n.*556+47G>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|3/18|c.281+47G>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron|3/3|n.348+79G>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron|2/2|n.234+47G>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding|3/3|c.281+47G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 51015793 . A G . . ANN=G|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|3/20|c.241T>C|p.Leu81Leu|292/2592|241/2319|81/772||,G|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|2/19|c.241T>C|p.Leu81Leu|346/2647|241/2319|81/772||,G|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|3/19|c.241T>C|p.Leu81Leu|379/2933|241/2319|81/772||,G|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|3/20|c.241T>C|p.Leu81Leu|379/2436|241/2076|81/691||,G|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|3/19|c.241T>C|p.Leu81Leu|379/2577|241/2217|81/738||,G|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|3/19|c.241T>C|p.Leu81Leu|330/2662|241/2319|81/772||,G|synonymous_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding|3/4|c.241T>C|p.Leu81Leu|423/558|241/376|81/124||WARNING_TRANSCRIPT_INCOMPLETE,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|5/22|c.-325T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Mitochondrial_intermembrane|ENST00000312108|protein_coding|3/20|c.241T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Mitochondrial_intermembrane|ENST00000312108|protein_coding|4/20|c.241T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Mitochondrial_intermembrane|ENST00000440709|protein_coding|3/20|c.241T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Mitochondrial_intermembrane|ENST00000440709|protein_coding|4/20|c.241T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Mitochondrial_intermembrane|ENST00000457250|protein_coding|3/19|c.241T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Mitochondrial_intermembrane|ENST00000457250|protein_coding|4/19|c.241T>C||||||,G|5_prime_UTR_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|5/22|c.-325T>C|||||1077|,G|3_prime_UTR_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|6/23|n.*516T>C|||||1817|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.-1T>C|||||4264|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.-1T>C|||||1300|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.-1T>C|||||2382|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.-1T>C|||||461|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding||c.*1406T>C|||||1585|,G|downstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.*546T>C|||||455|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron||n.*2069T>C|||||1595|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript||n.*624T>C|||||1599|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript||n.*657T>C|||||1599|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron||n.*1401T>C|||||1599|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron||n.*1856T>C|||||1599|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron||n.*2114T>C|||||1602|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000468532|retained_intron||n.*1052T>C|||||2086|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000489453|retained_intron||n.*722T>C|||||2440|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000476289|retained_intron||n.*1010T>C|||||2993|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000463053|processed_transcript||n.*886T>C|||||2993|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000465842|retained_intron||n.*428T>C|||||4243|,G|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|10/27|n.2449T>C||||||,G|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|6/23|n.*516T>C||||||,G|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron|3/4|n.340T>C||||||,G|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron|2/3|n.194T>C|||||| 22 51015801 . T G . . ANN=G|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|3/20|c.233A>C|p.Asp78Ala|284/2592|233/2319|78/772||,G|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|2/19|c.233A>C|p.Asp78Ala|338/2647|233/2319|78/772||,G|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|3/19|c.233A>C|p.Asp78Ala|371/2933|233/2319|78/772||,G|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|3/20|c.233A>C|p.Asp78Ala|371/2436|233/2076|78/691||,G|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|3/19|c.233A>C|p.Asp78Ala|371/2577|233/2217|78/738||,G|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|3/19|c.233A>C|p.Asp78Ala|322/2662|233/2319|78/772||,G|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding|3/4|c.233A>C|p.Asp78Ala|415/558|233/376|78/124||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Mitochondrial_intermembrane|ENST00000312108|protein_coding|3/20|c.233A>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Mitochondrial_intermembrane|ENST00000312108|protein_coding|4/20|c.233A>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Mitochondrial_intermembrane|ENST00000440709|protein_coding|3/20|c.233A>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Mitochondrial_intermembrane|ENST00000440709|protein_coding|4/20|c.233A>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Mitochondrial_intermembrane|ENST00000457250|protein_coding|3/19|c.233A>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Mitochondrial_intermembrane|ENST00000457250|protein_coding|4/19|c.233A>C||||||,G|5_prime_UTR_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|5/22|c.-333A>C|||||1085|,G|3_prime_UTR_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|6/23|n.*508A>C|||||1809|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.-1A>C|||||4272|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.-1A>C|||||1308|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.-1A>C|||||2390|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.-1A>C|||||469|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding||c.*1406A>C|||||1577|,G|downstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.*546A>C|||||447|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron||n.*2069A>C|||||1587|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript||n.*624A>C|||||1591|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript||n.*657A>C|||||1591|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron||n.*1401A>C|||||1591|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron||n.*1856A>C|||||1591|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron||n.*2114A>C|||||1594|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000468532|retained_intron||n.*1052A>C|||||2078|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000489453|retained_intron||n.*722A>C|||||2432|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000476289|retained_intron||n.*1010A>C|||||2985|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000463053|processed_transcript||n.*886A>C|||||2985|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000465842|retained_intron||n.*428A>C|||||4235|,G|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|10/27|n.2441A>C||||||,G|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|6/23|n.*508A>C||||||,G|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron|3/4|n.332A>C||||||,G|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron|2/3|n.186A>C|||||| 22 51015838 . T C . . ANN=C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|3/20|c.196A>G|p.Ile66Val|247/2592|196/2319|66/772||,C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|2/19|c.196A>G|p.Ile66Val|301/2647|196/2319|66/772||,C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|3/19|c.196A>G|p.Ile66Val|334/2933|196/2319|66/772||,C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|3/20|c.196A>G|p.Ile66Val|334/2436|196/2076|66/691||,C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|3/19|c.196A>G|p.Ile66Val|334/2577|196/2217|66/738||,C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|3/19|c.196A>G|p.Ile66Val|285/2662|196/2319|66/772||,C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding|3/4|c.196A>G|p.Ile66Val|378/558|196/376|66/124||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|CPT1B|ENSG00000205560|transmembrane_region:Transmembrane_region|ENST00000312108|protein_coding|3/20|c.196A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|transmembrane_region:Transmembrane_region|ENST00000440709|protein_coding|3/20|c.196A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|transmembrane_region:Transmembrane_region|ENST00000457250|protein_coding|3/19|c.196A>G||||||,C|5_prime_UTR_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|5/22|c.-370A>G|||||1122|,C|3_prime_UTR_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|6/23|n.*471A>G|||||1772|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.-1A>G|||||4309|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.-1A>G|||||1345|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.-1A>G|||||2427|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.-1A>G|||||506|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding||c.*1406A>G|||||1540|,C|downstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.*546A>G|||||410|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron||n.*2069A>G|||||1550|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript||n.*624A>G|||||1554|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript||n.*657A>G|||||1554|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron||n.*1401A>G|||||1554|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron||n.*1856A>G|||||1554|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron||n.*2114A>G|||||1557|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000468532|retained_intron||n.*1052A>G|||||2041|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000489453|retained_intron||n.*722A>G|||||2395|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000476289|retained_intron||n.*1010A>G|||||2948|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000463053|processed_transcript||n.*886A>G|||||2948|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000465842|retained_intron||n.*428A>G|||||4198|,C|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|10/27|n.2404A>G||||||,C|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|6/23|n.*471A>G||||||,C|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron|3/4|n.295A>G||||||,C|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron|2/3|n.149A>G|||||| 22 51015931 . C T . . ANN=T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.-1G>A|||||4402|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.-1G>A|||||1438|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.-1G>A|||||2520|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.-1G>A|||||599|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding||c.*1406G>A|||||1447|,T|downstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.*546G>A|||||317|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron||n.*2069G>A|||||1457|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript||n.*624G>A|||||1461|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript||n.*657G>A|||||1461|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron||n.*1401G>A|||||1461|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron||n.*1856G>A|||||1461|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron||n.*2114G>A|||||1464|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000468532|retained_intron||n.*1052G>A|||||1948|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000489453|retained_intron||n.*722G>A|||||2302|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000476289|retained_intron||n.*1010G>A|||||2855|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000463053|processed_transcript||n.*886G>A|||||2855|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000465842|retained_intron||n.*428G>A|||||4105|,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|2/19|c.142-39G>A||||||,T|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|9/26|n.2350-39G>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|1/18|c.142-39G>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|2/18|c.142-39G>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|2/19|c.142-39G>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|2/18|c.142-39G>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|4/21|c.-424-39G>A||||||,T|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|5/22|n.*417-39G>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|2/18|c.142-39G>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron|2/3|n.241-39G>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron|1/2|n.95-39G>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding|2/3|c.142-39G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 51016158 . G A . . ANN=A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.-1C>T|||||4629|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.-1C>T|||||1665|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.-1C>T|||||2747|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.-1C>T|||||826|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding||c.*1406C>T|||||1220|,A|downstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.*546C>T|||||90|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron||n.*2069C>T|||||1230|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript||n.*624C>T|||||1234|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript||n.*657C>T|||||1234|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron||n.*1401C>T|||||1234|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron||n.*1856C>T|||||1234|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron||n.*2114C>T|||||1237|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000468532|retained_intron||n.*1052C>T|||||1721|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000489453|retained_intron||n.*722C>T|||||2075|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000476289|retained_intron||n.*1010C>T|||||2628|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000463053|processed_transcript||n.*886C>T|||||2628|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000465842|retained_intron||n.*428C>T|||||3878|,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|2/19|c.141+46C>T||||||,A|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|9/26|n.2349+46C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|1/18|c.141+46C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|2/18|c.141+46C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|2/19|c.141+46C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|2/18|c.141+46C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|4/21|c.-425+46C>T||||||,A|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|5/22|n.*416+46C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|2/18|c.141+46C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron|2/3|n.240+46C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron|1/2|n.94+46C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding|2/3|c.141+46C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 51016165 . G A . . ANN=A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.-1C>T|||||4636|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.-1C>T|||||1672|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.-1C>T|||||2754|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.-1C>T|||||833|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding||c.*1406C>T|||||1213|,A|downstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.*546C>T|||||83|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron||n.*2069C>T|||||1223|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript||n.*624C>T|||||1227|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript||n.*657C>T|||||1227|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron||n.*1401C>T|||||1227|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron||n.*1856C>T|||||1227|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron||n.*2114C>T|||||1230|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000468532|retained_intron||n.*1052C>T|||||1714|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000489453|retained_intron||n.*722C>T|||||2068|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000476289|retained_intron||n.*1010C>T|||||2621|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000463053|processed_transcript||n.*886C>T|||||2621|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000465842|retained_intron||n.*428C>T|||||3871|,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|2/19|c.141+39C>T||||||,A|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|9/26|n.2349+39C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|1/18|c.141+39C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|2/18|c.141+39C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|2/19|c.141+39C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|2/18|c.141+39C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|4/21|c.-425+39C>T||||||,A|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|5/22|n.*416+39C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|2/18|c.141+39C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron|2/3|n.240+39C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron|1/2|n.94+39C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding|2/3|c.141+39C>T||||||WARNING_TRANSCRIPT_INCOMPLETE 22 51016170 . C T . . ANN=T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.-1G>A|||||4641|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.-1G>A|||||1677|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.-1G>A|||||2759|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.-1G>A|||||838|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding||c.*1406G>A|||||1208|,T|downstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.*546G>A|||||78|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron||n.*2069G>A|||||1218|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript||n.*624G>A|||||1222|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript||n.*657G>A|||||1222|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron||n.*1401G>A|||||1222|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron||n.*1856G>A|||||1222|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron||n.*2114G>A|||||1225|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000468532|retained_intron||n.*1052G>A|||||1709|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000489453|retained_intron||n.*722G>A|||||2063|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000476289|retained_intron||n.*1010G>A|||||2616|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000463053|processed_transcript||n.*886G>A|||||2616|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000465842|retained_intron||n.*428G>A|||||3866|,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|2/19|c.141+34G>A||||||,T|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|9/26|n.2349+34G>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|1/18|c.141+34G>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|2/18|c.141+34G>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|2/19|c.141+34G>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|2/18|c.141+34G>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|4/21|c.-425+34G>A||||||,T|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|5/22|n.*416+34G>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|2/18|c.141+34G>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron|2/3|n.240+34G>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron|1/2|n.94+34G>A||||||,T|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding|2/3|c.141+34G>A||||||WARNING_TRANSCRIPT_INCOMPLETE 22 51016360 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|2/20|c.-16C>T|||||16|,A|5_prime_UTR_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|1/19|c.-16C>T|||||16|,A|5_prime_UTR_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|2/19|c.-16C>T|||||16|,A|5_prime_UTR_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|2/20|c.-16C>T|||||16|,A|5_prime_UTR_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|2/19|c.-16C>T|||||16|,A|5_prime_UTR_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|4/22|c.-581C>T|||||1644|,A|5_prime_UTR_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|2/19|c.-16C>T|||||16|,A|5_prime_UTR_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding|2/4|c.-16C>T|||||16|WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|5/23|n.*260C>T|||||1250|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.-1C>T|||||4831|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.-1C>T|||||1867|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.-1C>T|||||2949|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.-1C>T|||||1028|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.-1C>T|||||63|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding||c.*1406C>T|||||1018|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron||n.*2069C>T|||||1028|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript||n.*624C>T|||||1032|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript||n.*657C>T|||||1032|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron||n.*1401C>T|||||1032|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron||n.*1856C>T|||||1032|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron||n.*2114C>T|||||1035|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000468532|retained_intron||n.*1052C>T|||||1519|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000489453|retained_intron||n.*722C>T|||||1873|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000476289|retained_intron||n.*1010C>T|||||2426|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000463053|processed_transcript||n.*886C>T|||||2426|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000465842|retained_intron||n.*428C>T|||||3676|,A|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|9/27|n.2193C>T||||||,A|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|5/23|n.*260C>T||||||,A|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron|2/4|n.84C>T||||||,A|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript|6/6|n.434C>T|||||| 22 51016370 . C G . . ANN=G|splice_region_variant&intron_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|1/19|c.-19-7G>C||||||,G|splice_region_variant&intron_variant|LOW|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|8/26|n.2190-7G>C||||||,G|splice_region_variant&intron_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|1/18|c.-19-7G>C||||||,G|splice_region_variant&intron_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|1/19|c.-19-7G>C||||||,G|splice_region_variant&intron_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|1/18|c.-19-7G>C||||||,G|splice_region_variant&intron_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|3/21|c.-584-7G>C||||||,G|splice_region_variant&intron_variant|LOW|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|4/22|n.*257-7G>C||||||,G|splice_region_variant&intron_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|1/18|c.-19-7G>C||||||,G|splice_region_variant&intron_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron|1/3|n.81-7G>C||||||,G|splice_region_variant&intron_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding|1/3|c.-19-7G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|splice_region_variant&intron_variant|LOW|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript|5/5|n.431-7G>C||||||,G|5_prime_UTR_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|1/19|c.-26G>C|||||26|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.-1G>C|||||4841|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.-1G>C|||||1877|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.-1G>C|||||2959|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.-1G>C|||||1038|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.-1G>C|||||73|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding||c.*1406G>C|||||1008|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron||n.*2069G>C|||||1018|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript||n.*624G>C|||||1022|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript||n.*657G>C|||||1022|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron||n.*1401G>C|||||1022|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron||n.*1856G>C|||||1022|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron||n.*2114G>C|||||1025|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000468532|retained_intron||n.*1052G>C|||||1509|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000489453|retained_intron||n.*722G>C|||||1863|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000476289|retained_intron||n.*1010G>C|||||2416|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000463053|processed_transcript||n.*886G>C|||||2416|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000465842|retained_intron||n.*428G>C|||||3666| 22 51017690 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|7/26|n.1970-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding|10/10|c.1114-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|1/21|c.-915-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|2/22|n.109-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript|3/5|n.100-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron|8/8|n.1773-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript|4/4|n.332-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript|6/6|n.365-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron|7/7|n.1109-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron|9/9|n.1564-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron|7/7|n.1825-6C>T||||||,A|sequence_feature|LOW|CHKB|ENSG00000100288|helix|ENST00000406938|protein_coding|10/11|c.1114-6C>T||||||,A|sequence_feature|LOW|CHKB|ENSG00000100288|helix|ENST00000406938|protein_coding|11/11|c.1114-6C>T||||||,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding||c.-52C>T|||||844|,A|upstream_gene_variant|MODIFIER|CHKB-AS1|ENSG00000205559|transcript|ENST00000380711|antisense||n.-1G>A|||||3765|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding||c.-106C>T|||||1241|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding||c.-139C>T|||||594|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding||c.-139C>T|||||594|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding||c.-139C>T|||||594|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding||c.-90C>T|||||806|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.-1C>T|||||3197|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.-1C>T|||||4279|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.-1C>T|||||2358|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.-1C>T|||||796|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.-1C>T|||||1393|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.-183C>T|||||1015|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000468532|retained_intron||n.*1052C>T|||||189|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000489453|retained_intron||n.*722C>T|||||543|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000476289|retained_intron||n.*1010C>T|||||1096|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000463053|processed_transcript||n.*886C>T|||||1096|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000465842|retained_intron||n.*428C>T|||||2346| 22 51017713 . G A . . ANN=A|sequence_feature|LOW|CHKB|ENSG00000100288|helix|ENST00000406938|protein_coding|10/11|c.1114-29C>T||||||,A|sequence_feature|LOW|CHKB|ENSG00000100288|helix|ENST00000406938|protein_coding|11/11|c.1114-29C>T||||||,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding||c.-52C>T|||||867|,A|upstream_gene_variant|MODIFIER|CHKB-AS1|ENSG00000205559|transcript|ENST00000380711|antisense||n.-1G>A|||||3742|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding||c.-106C>T|||||1264|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding||c.-139C>T|||||617|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding||c.-139C>T|||||617|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding||c.-139C>T|||||617|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding||c.-90C>T|||||829|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.-1C>T|||||3220|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.-1C>T|||||4302|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.-1C>T|||||2381|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.-1C>T|||||819|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.-1C>T|||||1416|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.-183C>T|||||1038|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000468532|retained_intron||n.*1052C>T|||||166|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000489453|retained_intron||n.*722C>T|||||520|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000476289|retained_intron||n.*1010C>T|||||1073|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000463053|processed_transcript||n.*886C>T|||||1073|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000465842|retained_intron||n.*428C>T|||||2323|,A|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|7/26|n.1970-29C>T||||||,A|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding|10/10|c.1114-29C>T||||||,A|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|1/21|c.-915-29C>T||||||,A|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|2/22|n.109-29C>T||||||,A|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript|3/5|n.100-29C>T||||||,A|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron|8/8|n.1773-29C>T||||||,A|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript|4/4|n.332-29C>T||||||,A|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript|6/6|n.365-29C>T||||||,A|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron|7/7|n.1109-29C>T||||||,A|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron|9/9|n.1564-29C>T||||||,A|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron|7/7|n.1825-29C>T|||||| 22 51018129 . T TA . . ANN=A|sequence_feature|LOW|CHKB|ENSG00000100288|helix|ENST00000406938|protein_coding|10/11|c.1031+26dupT||||||,A|sequence_feature|LOW|CHKB|ENSG00000100288|helix|ENST00000406938|protein_coding|9/11|c.1031+26dupT||||||,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding||c.-52dupT|||||1284|,A|upstream_gene_variant|MODIFIER|CHKB-AS1|ENSG00000205559|transcript|ENST00000380711|antisense||n.-1_-1insA|||||3325|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding||c.-106dupT|||||1681|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding||c.-139dupT|||||1034|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding||c.-139dupT|||||1034|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding||c.-139dupT|||||1034|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding||c.-961dupT|||||231|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding||c.-90dupT|||||1246|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.-1dupT|||||3637|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.-1dupT|||||4719|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.-1dupT|||||2798|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.-1dupT|||||1236|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.-1dupT|||||1833|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.-183dupT|||||1455|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000489453|retained_intron||n.*722dupT|||||103|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000476289|retained_intron||n.*1010dupT|||||656|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000463053|processed_transcript||n.*886dupT|||||656|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000465842|retained_intron||n.*428dupT|||||1906|,A|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|6/26|n.1887+26dupT||||||,A|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding|9/10|c.1031+26dupT||||||,A|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|1/22|n.26+26dupT||||||,A|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript|2/5|n.66+90dupT||||||,A|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron|7/8|n.1690+26dupT||||||,A|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript|3/4|n.249+26dupT||||||,A|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript|5/6|n.282+26dupT||||||,A|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron|6/7|n.1026+26dupT||||||,A|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron|8/9|n.1481+26dupT||||||,A|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron|6/7|n.1742+26dupT||||||,A|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000468532|retained_intron|7/7|n.994+26dupT|||||| 22 51018204 . T C . . ANN=C|missense_variant|MODERATE|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding|9/11|c.983A>G|p.Gln328Arg|1201/1638|983/1188|328/395||,C|sequence_feature|LOW|CHKB|ENSG00000100288|helix|ENST00000406938|protein_coding|10/11|c.983A>G||||||,C|sequence_feature|LOW|CHKB|ENSG00000100288|helix|ENST00000406938|protein_coding|9/11|c.983A>G||||||,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding||c.-52A>G|||||1358|,C|upstream_gene_variant|MODIFIER|CHKB-AS1|ENSG00000205559|transcript|ENST00000380711|antisense||n.-1T>C|||||3251|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding||c.-106A>G|||||1755|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding||c.-139A>G|||||1108|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding||c.-139A>G|||||1108|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding||c.-139A>G|||||1108|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding||c.-961A>G|||||305|,C|upstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay||n.-1A>G|||||23|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding||c.-90A>G|||||1320|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.-1A>G|||||3711|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.-1A>G|||||4793|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.-1A>G|||||2872|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.-1A>G|||||1310|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.-1A>G|||||1907|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.-183A>G|||||1529|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000489453|retained_intron||n.*722A>G|||||29|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000476289|retained_intron||n.*1010A>G|||||582|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000463053|processed_transcript||n.*886A>G|||||582|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000465842|retained_intron||n.*428A>G|||||1832|,C|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript|2/5|n.66+16A>G||||||,C|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|6/27|n.1839A>G||||||,C|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron|7/9|n.1642A>G||||||,C|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript|3/5|n.201A>G||||||,C|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript|5/7|n.234A>G||||||,C|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron|6/8|n.978A>G||||||,C|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron|8/10|n.1433A>G||||||,C|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron|6/8|n.1694A>G||||||,C|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000468532|retained_intron|7/8|n.946A>G|||||| 22 51018297 . T C . . ANN=C|sequence_feature|LOW|CHKB|ENSG00000100288|helix|ENST00000406938|protein_coding|9/11|c.928-38A>G||||||,C|sequence_feature|LOW|CHKB|ENSG00000100288|helix|ENST00000406938|protein_coding|8/11|c.928-38A>G||||||,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding||c.-52A>G|||||1451|,C|upstream_gene_variant|MODIFIER|CHKB-AS1|ENSG00000205559|transcript|ENST00000380711|antisense||n.-1T>C|||||3158|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding||c.-106A>G|||||1848|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding||c.-139A>G|||||1201|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding||c.-139A>G|||||1201|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding||c.-139A>G|||||1201|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding||c.-961A>G|||||398|,C|upstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay||n.-1A>G|||||116|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding||c.-90A>G|||||1413|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.-1A>G|||||3804|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.-1A>G|||||4886|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.-1A>G|||||2965|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.-1A>G|||||1403|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.-1A>G|||||2000|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.-183A>G|||||1622|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000476289|retained_intron||n.*1010A>G|||||489|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000463053|processed_transcript||n.*886A>G|||||489|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000465842|retained_intron||n.*428A>G|||||1739|,C|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|5/26|n.1784-38A>G||||||,C|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding|8/10|c.928-38A>G||||||,C|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript|1/5|n.27-38A>G||||||,C|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron|6/8|n.1587-38A>G||||||,C|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript|2/4|n.174-66A>G||||||,C|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript|4/6|n.207-66A>G||||||,C|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron|5/7|n.923-38A>G||||||,C|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron|7/9|n.1378-38A>G||||||,C|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron|5/7|n.1639-38A>G||||||,C|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000468532|retained_intron|6/7|n.891-38A>G||||||,C|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000489453|retained_intron|3/3|n.658A>G|||||| 22 51018574 . G A . . ANN=A|sequence_feature|LOW|CHKB|ENSG00000100288|helix|ENST00000406938|protein_coding|7/11|c.818+45C>T||||||,A|sequence_feature|LOW|CHKB|ENSG00000100288|helix|ENST00000406938|protein_coding|8/11|c.818+45C>T||||||,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding||c.-52C>T|||||1728|,A|upstream_gene_variant|MODIFIER|CHKB-AS1|ENSG00000205559|transcript|ENST00000380711|antisense||n.-1G>A|||||2881|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding||c.-106C>T|||||2125|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding||c.-139C>T|||||1478|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding||c.-139C>T|||||1478|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding||c.-139C>T|||||1478|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding||c.-961C>T|||||675|,A|upstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay||n.-1C>T|||||393|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding||c.-90C>T|||||1690|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.-1C>T|||||4081|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.-1C>T|||||3242|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.-1C>T|||||1680|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.-1C>T|||||2277|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.-183C>T|||||1899|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.-1C>T|||||146|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000476289|retained_intron||n.*1010C>T|||||212|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000463053|processed_transcript||n.*886C>T|||||212|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000465842|retained_intron||n.*428C>T|||||1462|,A|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|4/26|n.1674+45C>T||||||,A|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding|7/10|c.818+45C>T||||||,A|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron|5/8|n.1477+45C>T||||||,A|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript|1/4|n.64+45C>T||||||,A|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript|3/6|n.180+45C>T||||||,A|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron|4/7|n.813+45C>T||||||,A|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron|6/9|n.1268+45C>T||||||,A|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron|4/7|n.1529+45C>T||||||,A|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000468532|retained_intron|5/7|n.781+45C>T||||||,A|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000489453|retained_intron|2/2|n.443+45C>T|||||| 22 51018579 . A G . . ANN=G|sequence_feature|LOW|CHKB|ENSG00000100288|helix|ENST00000406938|protein_coding|7/11|c.818+40T>C||||||,G|sequence_feature|LOW|CHKB|ENSG00000100288|helix|ENST00000406938|protein_coding|8/11|c.818+40T>C||||||,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding||c.-52T>C|||||1733|,G|upstream_gene_variant|MODIFIER|CHKB-AS1|ENSG00000205559|transcript|ENST00000380711|antisense||n.-1A>G|||||2876|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding||c.-106T>C|||||2130|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding||c.-139T>C|||||1483|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding||c.-139T>C|||||1483|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding||c.-139T>C|||||1483|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding||c.-961T>C|||||680|,G|upstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay||n.-1T>C|||||398|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding||c.-90T>C|||||1695|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.-1T>C|||||4086|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.-1T>C|||||3247|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.-1T>C|||||1685|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.-1T>C|||||2282|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.-183T>C|||||1904|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.-1T>C|||||151|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000476289|retained_intron||n.*1010T>C|||||207|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000463053|processed_transcript||n.*886T>C|||||207|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000465842|retained_intron||n.*428T>C|||||1457|,G|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|4/26|n.1674+40T>C||||||,G|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding|7/10|c.818+40T>C||||||,G|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron|5/8|n.1477+40T>C||||||,G|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript|1/4|n.64+40T>C||||||,G|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript|3/6|n.180+40T>C||||||,G|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron|4/7|n.813+40T>C||||||,G|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron|6/9|n.1268+40T>C||||||,G|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron|4/7|n.1529+40T>C||||||,G|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000468532|retained_intron|5/7|n.781+40T>C||||||,G|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000489453|retained_intron|2/2|n.443+40T>C|||||| 22 51018623 . A G . . ANN=G|missense_variant|MODERATE|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding|7/11|c.814T>C|p.Tyr272His|1032/1638|814/1188|272/395||,G|sequence_feature|LOW|CHKB|ENSG00000100288|beta_strand|ENST00000406938|protein_coding|7/11|c.814T>C||||||,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding||c.-52T>C|||||1777|,G|upstream_gene_variant|MODIFIER|CHKB-AS1|ENSG00000205559|transcript|ENST00000380711|antisense||n.-1A>G|||||2832|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding||c.-106T>C|||||2174|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding||c.-139T>C|||||1527|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding||c.-139T>C|||||1527|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding||c.-139T>C|||||1527|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding||c.-961T>C|||||724|,G|upstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay||n.-1T>C|||||442|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding||c.-90T>C|||||1739|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.-1T>C|||||4130|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.-1T>C|||||3291|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.-1T>C|||||1729|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.-1T>C|||||2326|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.-183T>C|||||1948|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.-1T>C|||||195|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000476289|retained_intron||n.*1010T>C|||||163|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000463053|processed_transcript||n.*886T>C|||||163|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000465842|retained_intron||n.*428T>C|||||1413|,G|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|4/27|n.1670T>C||||||,G|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron|5/9|n.1473T>C||||||,G|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript|1/5|n.60T>C||||||,G|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript|3/7|n.176T>C||||||,G|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron|4/8|n.809T>C||||||,G|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron|6/10|n.1264T>C||||||,G|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron|4/8|n.1525T>C||||||,G|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000468532|retained_intron|5/8|n.777T>C||||||,G|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000489453|retained_intron|2/3|n.439T>C|||||| 22 51018814 . C T . . ANN=T|missense_variant|MODERATE|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding|6/11|c.709G>A|p.Val237Ile|927/1638|709/1188|237/395||,T|sequence_feature|LOW|CHKB|ENSG00000100288|beta_strand|ENST00000406938|protein_coding|6/11|c.709G>A||||||,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding||c.-52G>A|||||1968|,T|upstream_gene_variant|MODIFIER|CHKB-AS1|ENSG00000205559|transcript|ENST00000380711|antisense||n.-1C>T|||||2641|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding||c.-106G>A|||||2365|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding||c.-139G>A|||||1718|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding||c.-139G>A|||||1718|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding||c.-139G>A|||||1718|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding||c.-961G>A|||||915|,T|upstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay||n.-1G>A|||||633|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding||c.-90G>A|||||1930|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.-1G>A|||||4321|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.-1G>A|||||3482|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.-1G>A|||||1920|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.-1G>A|||||2517|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.-183G>A|||||2139|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.-1G>A|||||386|,T|upstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript||n.-1G>A|||||132|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000465842|retained_intron||n.*428G>A|||||1222|,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|4/27|n.1479G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron|4/9|n.1368G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript|2/7|n.71G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron|3/8|n.704G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron|5/10|n.1159G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron|4/8|n.1334G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000468532|retained_intron|5/8|n.586G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000489453|retained_intron|2/3|n.248G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000476289|retained_intron|5/5|n.982G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000463053|processed_transcript|7/7|n.858G>A|||||| 22 51018955 . G A . . ANN=A|sequence_feature|LOW|CHKB|ENSG00000100288|helix|ENST00000406938|protein_coding|6/11|c.677+39C>T||||||,A|sequence_feature|LOW|CHKB|ENSG00000100288|helix|ENST00000406938|protein_coding|5/11|c.677+39C>T||||||,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding||c.-52C>T|||||2109|,A|upstream_gene_variant|MODIFIER|CHKB-AS1|ENSG00000205559|transcript|ENST00000380711|antisense||n.-1G>A|||||2500|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding||c.-106C>T|||||2506|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding||c.-139C>T|||||1859|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding||c.-139C>T|||||1859|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding||c.-139C>T|||||1859|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding||c.-961C>T|||||1056|,A|upstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay||n.-1C>T|||||774|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding||c.-90C>T|||||2071|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.-1C>T|||||4462|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.-1C>T|||||3623|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.-1C>T|||||2061|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.-1C>T|||||2658|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.-183C>T|||||2280|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.-1C>T|||||527|,A|upstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript||n.-1C>T|||||273|,A|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000465842|retained_intron||n.*428C>T|||||1081|,A|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|3/26|n.1447+39C>T||||||,A|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding|5/10|c.677+39C>T||||||,A|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron|3/8|n.1336+39C>T||||||,A|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript|1/6|n.39+39C>T||||||,A|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron|2/7|n.672+39C>T||||||,A|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron|4/9|n.1127+39C>T||||||,A|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron|3/7|n.1302+39C>T||||||,A|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000468532|retained_intron|4/7|n.554+39C>T||||||,A|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000489453|retained_intron|1/2|n.216+39C>T||||||,A|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000476289|retained_intron|4/4|n.950+39C>T||||||,A|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000463053|processed_transcript|6/6|n.826+39C>T|||||| 22 51019105 . T C . . ANN=C|sequence_feature|LOW|CHKB|ENSG00000100288|helix|ENST00000406938|protein_coding|5/11|c.582-16A>G||||||,C|sequence_feature|LOW|CHKB|ENSG00000100288|helix|ENST00000406938|protein_coding|4/11|c.582-16A>G||||||,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding||c.-52A>G|||||2259|,C|upstream_gene_variant|MODIFIER|CHKB-AS1|ENSG00000205559|transcript|ENST00000380711|antisense||n.-1T>C|||||2350|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding||c.-106A>G|||||2656|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding||c.-139A>G|||||2009|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding||c.-139A>G|||||2009|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding||c.-139A>G|||||2009|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding||c.-961A>G|||||1206|,C|upstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay||n.-1A>G|||||924|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding||c.-90A>G|||||2221|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.-1A>G|||||4612|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.-1A>G|||||3773|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.-1A>G|||||2211|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.-1A>G|||||2808|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.-183A>G|||||2430|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.-1A>G|||||677|,C|upstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript||n.-1A>G|||||423|,C|upstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript||n.-1A>G|||||73|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000465842|retained_intron||n.*428A>G|||||931|,C|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|2/26|n.1352-16A>G||||||,C|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding|4/10|c.582-16A>G||||||,C|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron|2/8|n.1241-16A>G||||||,C|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron|1/7|n.577-16A>G||||||,C|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron|3/9|n.1032-16A>G||||||,C|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron|2/7|n.1207-16A>G||||||,C|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000468532|retained_intron|3/7|n.459-16A>G||||||,C|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000476289|retained_intron|3/4|n.855-16A>G||||||,C|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000463053|processed_transcript|5/6|n.731-16A>G||||||,C|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000489453|retained_intron|1/3|n.105A>G|||||| 22 51019113 . A C . . ANN=C|sequence_feature|LOW|CHKB|ENSG00000100288|helix|ENST00000406938|protein_coding|5/11|c.582-24T>G||||||,C|sequence_feature|LOW|CHKB|ENSG00000100288|helix|ENST00000406938|protein_coding|4/11|c.582-24T>G||||||,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding||c.-52T>G|||||2267|,C|upstream_gene_variant|MODIFIER|CHKB-AS1|ENSG00000205559|transcript|ENST00000380711|antisense||n.-1A>C|||||2342|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding||c.-106T>G|||||2664|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding||c.-139T>G|||||2017|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding||c.-139T>G|||||2017|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding||c.-139T>G|||||2017|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding||c.-961T>G|||||1214|,C|upstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay||n.-1T>G|||||932|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding||c.-90T>G|||||2229|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.-1T>G|||||4620|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.-1T>G|||||3781|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.-1T>G|||||2219|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.-1T>G|||||2816|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.-183T>G|||||2438|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.-1T>G|||||685|,C|upstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript||n.-1T>G|||||431|,C|upstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript||n.-1T>G|||||81|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000465842|retained_intron||n.*428T>G|||||923|,C|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|2/26|n.1352-24T>G||||||,C|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding|4/10|c.582-24T>G||||||,C|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron|2/8|n.1241-24T>G||||||,C|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron|1/7|n.577-24T>G||||||,C|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron|3/9|n.1032-24T>G||||||,C|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron|2/7|n.1207-24T>G||||||,C|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000468532|retained_intron|3/7|n.459-24T>G||||||,C|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000476289|retained_intron|3/4|n.855-24T>G||||||,C|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000463053|processed_transcript|5/6|n.731-24T>G||||||,C|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000489453|retained_intron|1/3|n.97T>G|||||| 22 51019138 . C T . . ANN=T|sequence_feature|LOW|CHKB|ENSG00000100288|helix|ENST00000406938|protein_coding|5/11|c.582-49G>A||||||,T|sequence_feature|LOW|CHKB|ENSG00000100288|helix|ENST00000406938|protein_coding|4/11|c.582-49G>A||||||,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding||c.-52G>A|||||2292|,T|upstream_gene_variant|MODIFIER|CHKB-AS1|ENSG00000205559|transcript|ENST00000380711|antisense||n.-1C>T|||||2317|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding||c.-106G>A|||||2689|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding||c.-139G>A|||||2042|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding||c.-139G>A|||||2042|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding||c.-139G>A|||||2042|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding||c.-961G>A|||||1239|,T|upstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay||n.-1G>A|||||957|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding||c.-90G>A|||||2254|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.-1G>A|||||4645|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.-1G>A|||||3806|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.-1G>A|||||2244|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.-1G>A|||||2841|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.-183G>A|||||2463|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.-1G>A|||||710|,T|upstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript||n.-1G>A|||||456|,T|upstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript||n.-1G>A|||||106|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000465842|retained_intron||n.*428G>A|||||898|,T|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|2/26|n.1352-49G>A||||||,T|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding|4/10|c.582-49G>A||||||,T|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron|2/8|n.1241-49G>A||||||,T|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron|1/7|n.577-49G>A||||||,T|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron|3/9|n.1032-49G>A||||||,T|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron|2/7|n.1207-49G>A||||||,T|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000468532|retained_intron|3/7|n.459-49G>A||||||,T|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000476289|retained_intron|3/4|n.855-49G>A||||||,T|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000463053|processed_transcript|5/6|n.731-49G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000489453|retained_intron|1/3|n.72G>A|||||| 22 51019802 . A T . . ANN=T|sequence_feature|LOW|CHKB|ENSG00000100288|helix|ENST00000406938|protein_coding|5/11|c.581+47T>A||||||,T|sequence_feature|LOW|CHKB|ENSG00000100288|helix|ENST00000406938|protein_coding|4/11|c.581+47T>A||||||,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding||c.-52T>A|||||2956|,T|upstream_gene_variant|MODIFIER|CHKB-AS1|ENSG00000205559|transcript|ENST00000380711|antisense||n.-1A>T|||||1653|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding||c.-106T>A|||||3353|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding||c.-139T>A|||||2706|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding||c.-139T>A|||||2706|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding||c.-139T>A|||||2706|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding||c.-961T>A|||||1903|,T|upstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay||n.-1T>A|||||1621|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding||c.-90T>A|||||2918|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.-1T>A|||||4470|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.-1T>A|||||2908|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.-1T>A|||||3505|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.-183T>A|||||3127|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.-1T>A|||||1374|,T|upstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript||n.-1T>A|||||1120|,T|upstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript||n.-1T>A|||||770|,T|upstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000489453|retained_intron||n.-1T>A|||||593|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000465842|retained_intron||n.*428T>A|||||234|,T|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|2/26|n.1351+47T>A||||||,T|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding|4/10|c.581+47T>A||||||,T|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron|2/8|n.1240+47T>A||||||,T|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron|1/7|n.577-713T>A||||||,T|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron|3/9|n.1031+47T>A||||||,T|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron|2/7|n.1206+47T>A||||||,T|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000468532|retained_intron|3/7|n.458+47T>A||||||,T|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000476289|retained_intron|3/4|n.854+47T>A||||||,T|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000463053|processed_transcript|5/6|n.730+47T>A|||||| 22 51019857 . G T . . ANN=T|synonymous_variant|LOW|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding|4/11|c.573C>A|p.Thr191Thr|791/1638|573/1188|191/395||,T|sequence_feature|LOW|CHKB|ENSG00000100288|helix|ENST00000406938|protein_coding|5/11|c.573C>A||||||,T|sequence_feature|LOW|CHKB|ENSG00000100288|helix|ENST00000406938|protein_coding|4/11|c.573C>A||||||,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding||c.-52C>A|||||3011|,T|upstream_gene_variant|MODIFIER|CHKB-AS1|ENSG00000205559|transcript|ENST00000380711|antisense||n.-1G>T|||||1598|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding||c.-106C>A|||||3408|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding||c.-139C>A|||||2761|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding||c.-139C>A|||||2761|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding||c.-139C>A|||||2761|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding||c.-961C>A|||||1958|,T|upstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay||n.-1C>A|||||1676|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding||c.-90C>A|||||2973|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.-1C>A|||||4525|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.-1C>A|||||2963|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.-1C>A|||||3560|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.-183C>A|||||3182|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.-1C>A|||||1429|,T|upstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript||n.-1C>A|||||1175|,T|upstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript||n.-1C>A|||||825|,T|upstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000489453|retained_intron||n.-1C>A|||||648|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000465842|retained_intron||n.*428C>A|||||179|,T|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron|1/7|n.577-768C>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|2/27|n.1343C>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron|2/9|n.1232C>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron|3/10|n.1023C>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron|2/8|n.1198C>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000468532|retained_intron|3/8|n.450C>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000476289|retained_intron|3/5|n.846C>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000463053|processed_transcript|5/7|n.722C>A|||||| 22 51019914 . C T . . ANN=T|synonymous_variant|LOW|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding|4/11|c.516G>A|p.Ala172Ala|734/1638|516/1188|172/395||,T|sequence_feature|LOW|CHKB|ENSG00000100288|helix|ENST00000406938|protein_coding|4/11|c.516G>A||||||,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding||c.-52G>A|||||3068|,T|upstream_gene_variant|MODIFIER|CHKB-AS1|ENSG00000205559|transcript|ENST00000380711|antisense||n.-1C>T|||||1541|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding||c.-106G>A|||||3465|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding||c.-139G>A|||||2818|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding||c.-139G>A|||||2818|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding||c.-139G>A|||||2818|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding||c.-961G>A|||||2015|,T|upstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay||n.-1G>A|||||1733|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding||c.-90G>A|||||3030|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.-1G>A|||||4582|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.-1G>A|||||3020|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.-1G>A|||||3617|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.-183G>A|||||3239|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.-1G>A|||||1486|,T|upstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript||n.-1G>A|||||1232|,T|upstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript||n.-1G>A|||||882|,T|upstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000489453|retained_intron||n.-1G>A|||||705|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000465842|retained_intron||n.*428G>A|||||122|,T|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron|1/7|n.576+764G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|2/27|n.1286G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron|2/9|n.1175G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron|3/10|n.966G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron|2/8|n.1141G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000468532|retained_intron|3/8|n.393G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000476289|retained_intron|3/5|n.789G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000463053|processed_transcript|5/7|n.665G>A|||||| 22 51019929 . A C . . ANN=C|missense_variant|MODERATE|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding|4/11|c.501T>G|p.Ile167Met|719/1638|501/1188|167/395||,C|sequence_feature|LOW|CHKB|ENSG00000100288|helix|ENST00000406938|protein_coding|4/11|c.501T>G||||||,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding||c.-52T>G|||||3083|,C|upstream_gene_variant|MODIFIER|CHKB-AS1|ENSG00000205559|transcript|ENST00000380711|antisense||n.-1A>C|||||1526|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding||c.-106T>G|||||3480|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding||c.-139T>G|||||2833|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding||c.-139T>G|||||2833|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding||c.-139T>G|||||2833|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding||c.-961T>G|||||2030|,C|upstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay||n.-1T>G|||||1748|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding||c.-90T>G|||||3045|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.-1T>G|||||4597|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.-1T>G|||||3035|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.-1T>G|||||3632|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.-183T>G|||||3254|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.-1T>G|||||1501|,C|upstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript||n.-1T>G|||||1247|,C|upstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript||n.-1T>G|||||897|,C|upstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000489453|retained_intron||n.-1T>G|||||720|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000465842|retained_intron||n.*428T>G|||||107|,C|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron|1/7|n.576+749T>G||||||,C|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|2/27|n.1271T>G||||||,C|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron|2/9|n.1160T>G||||||,C|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron|3/10|n.951T>G||||||,C|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron|2/8|n.1126T>G||||||,C|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000468532|retained_intron|3/8|n.378T>G||||||,C|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000476289|retained_intron|3/5|n.774T>G||||||,C|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000463053|processed_transcript|5/7|n.650T>G|||||| 22 51019973 . A G . . ANN=G|synonymous_variant|LOW|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding|4/11|c.457T>C|p.Leu153Leu|675/1638|457/1188|153/395||,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding||c.-52T>C|||||3127|,G|upstream_gene_variant|MODIFIER|CHKB-AS1|ENSG00000205559|transcript|ENST00000380711|antisense||n.-1A>G|||||1482|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding||c.-106T>C|||||3524|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding||c.-139T>C|||||2877|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding||c.-139T>C|||||2877|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding||c.-139T>C|||||2877|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding||c.-961T>C|||||2074|,G|upstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay||n.-1T>C|||||1792|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding||c.-90T>C|||||3089|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.-1T>C|||||4641|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.-1T>C|||||3079|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.-1T>C|||||3676|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.-183T>C|||||3298|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.-1T>C|||||1545|,G|upstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript||n.-1T>C|||||1291|,G|upstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript||n.-1T>C|||||941|,G|upstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000489453|retained_intron||n.-1T>C|||||764|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000465842|retained_intron||n.*428T>C|||||63|,G|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron|1/7|n.576+705T>C||||||,G|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|2/27|n.1227T>C||||||,G|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron|2/9|n.1116T>C||||||,G|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron|3/10|n.907T>C||||||,G|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron|2/8|n.1082T>C||||||,G|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000468532|retained_intron|3/8|n.334T>C||||||,G|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000476289|retained_intron|3/5|n.730T>C||||||,G|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000463053|processed_transcript|5/7|n.606T>C|||||| 22 51019978 . C T . . ANN=T|missense_variant|MODERATE|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding|4/11|c.452G>A|p.Arg151Gln|670/1638|452/1188|151/395||,T|sequence_feature|LOW|CHKB|ENSG00000100288|beta_strand|ENST00000406938|protein_coding|3/11|c.452G>A||||||,T|sequence_feature|LOW|CHKB|ENSG00000100288|beta_strand|ENST00000406938|protein_coding|4/11|c.452G>A||||||,T|sequence_feature|LOW|CHKB|ENSG00000100288|nucleotide_phosphate-binding_region:ATP|ENST00000406938|protein_coding|3/11|c.452G>A||||||,T|sequence_feature|LOW|CHKB|ENSG00000100288|nucleotide_phosphate-binding_region:ATP|ENST00000406938|protein_coding|4/11|c.452G>A||||||,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding||c.-52G>A|||||3132|,T|upstream_gene_variant|MODIFIER|CHKB-AS1|ENSG00000205559|transcript|ENST00000380711|antisense||n.-1C>T|||||1477|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding||c.-106G>A|||||3529|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding||c.-139G>A|||||2882|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding||c.-139G>A|||||2882|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding||c.-139G>A|||||2882|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding||c.-961G>A|||||2079|,T|upstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay||n.-1G>A|||||1797|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding||c.-90G>A|||||3094|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.-1G>A|||||4646|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.-1G>A|||||3084|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.-1G>A|||||3681|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.-183G>A|||||3303|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.-1G>A|||||1550|,T|upstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript||n.-1G>A|||||1296|,T|upstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript||n.-1G>A|||||946|,T|upstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000489453|retained_intron||n.-1G>A|||||769|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000465842|retained_intron||n.*428G>A|||||58|,T|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron|1/7|n.576+700G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|2/27|n.1222G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron|2/9|n.1111G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron|3/10|n.902G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron|2/8|n.1077G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000468532|retained_intron|3/8|n.329G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000476289|retained_intron|3/5|n.725G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000463053|processed_transcript|5/7|n.601G>A|||||| 22 51020279 . G A . . ANN=A|synonymous_variant|LOW|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding|3/11|c.346C>T|p.Leu116Leu|564/1638|346/1188|116/395||,A|sequence_feature|LOW|CHKB|ENSG00000100288|helix|ENST00000406938|protein_coding|3/11|c.346C>T||||||,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding||c.-52C>T|||||3433|,A|upstream_gene_variant|MODIFIER|CHKB-AS1|ENSG00000205559|transcript|ENST00000380711|antisense||n.-1G>A|||||1176|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding||c.-106C>T|||||3830|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding||c.-139C>T|||||3183|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding||c.-139C>T|||||3183|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding||c.-139C>T|||||3183|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding||c.-961C>T|||||2380|,A|upstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay||n.-1C>T|||||2098|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding||c.-90C>T|||||3395|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.-1C>T|||||4947|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.-1C>T|||||3385|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.-1C>T|||||3982|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.-183C>T|||||3604|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.-1C>T|||||1851|,A|upstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript||n.-1C>T|||||1597|,A|upstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript||n.-1C>T|||||1247|,A|upstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000489453|retained_intron||n.-1C>T|||||1070|,A|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron|1/7|n.576+399C>T||||||,A|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|1/27|n.1116C>T||||||,A|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron|1/9|n.1005C>T||||||,A|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron|2/10|n.796C>T||||||,A|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron|1/8|n.971C>T||||||,A|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000468532|retained_intron|2/8|n.223C>T||||||,A|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000476289|retained_intron|2/5|n.619C>T||||||,A|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000463053|processed_transcript|4/7|n.495C>T||||||,A|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000465842|retained_intron|2/2|n.185C>T|||||| 22 51020668 . C A . . ANN=A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding||c.-52G>T|||||3822|,A|upstream_gene_variant|MODIFIER|CHKB-AS1|ENSG00000205559|transcript|ENST00000380711|antisense||n.-1C>A|||||787|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding||c.-106G>T|||||4219|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding||c.-139G>T|||||3572|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding||c.-139G>T|||||3572|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding||c.-139G>T|||||3572|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding||c.-961G>T|||||2769|,A|upstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay||n.-1G>T|||||2487|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding||c.-90G>T|||||3784|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.-1G>T|||||3774|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.-1G>T|||||4371|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.-183G>T|||||3993|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.-1G>T|||||2240|,A|upstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript||n.-1G>T|||||1986|,A|upstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript||n.-1G>T|||||1636|,A|upstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000489453|retained_intron||n.-1G>T|||||1459|,A|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding|2/10|c.333+10G>T||||||,A|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron|1/7|n.576+10G>T||||||,A|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000468532|retained_intron|1/7|n.210+10G>T||||||,A|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000476289|retained_intron|1/4|n.606+10G>T||||||,A|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000463053|processed_transcript|2/6|n.415+10G>T||||||,A|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000465842|retained_intron|1/1|n.172+10G>T||||||,A|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|1/27|n.727G>T||||||,A|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron|1/9|n.616G>T||||||,A|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron|2/10|n.407G>T||||||,A|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron|1/8|n.582G>T|||||| 22 51020762 . G A . . ANN=A|synonymous_variant|LOW|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding|2/11|c.249C>T|p.Phe83Phe|467/1638|249/1188|83/395||,A|sequence_feature|LOW|CHKB|ENSG00000100288|beta_strand|ENST00000406938|protein_coding|2/11|c.249C>T||||||,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding||c.-52C>T|||||3916|,A|upstream_gene_variant|MODIFIER|CHKB-AS1|ENSG00000205559|transcript|ENST00000380711|antisense||n.-1G>A|||||693|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding||c.-106C>T|||||4313|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding||c.-139C>T|||||3666|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding||c.-139C>T|||||3666|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding||c.-139C>T|||||3666|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding||c.-961C>T|||||2863|,A|upstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay||n.-1C>T|||||2581|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding||c.-90C>T|||||3878|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.-1C>T|||||3868|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.-1C>T|||||4465|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.-183C>T|||||4087|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.-1C>T|||||2334|,A|upstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript||n.-1C>T|||||2080|,A|upstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript||n.-1C>T|||||1730|,A|upstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000489453|retained_intron||n.-1C>T|||||1553|,A|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|1/27|n.633C>T||||||,A|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron|1/9|n.522C>T||||||,A|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron|1/8|n.492C>T||||||,A|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron|2/10|n.313C>T||||||,A|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron|1/8|n.488C>T||||||,A|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000468532|retained_intron|1/8|n.126C>T||||||,A|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000476289|retained_intron|1/5|n.522C>T||||||,A|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000463053|processed_transcript|2/7|n.331C>T||||||,A|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000465842|retained_intron|1/2|n.88C>T|||||| 22 51020995 . G A . . ANN=A|synonymous_variant|LOW|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding|1/11|c.216C>T|p.Tyr72Tyr|434/1638|216/1188|72/395||,A|sequence_feature|LOW|CHKB|ENSG00000100288|beta_strand|ENST00000406938|protein_coding|1/11|c.216C>T||||||,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding||c.-52C>T|||||4149|,A|upstream_gene_variant|MODIFIER|CHKB-AS1|ENSG00000205559|transcript|ENST00000380711|antisense||n.-1G>A|||||460|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding||c.-106C>T|||||4546|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding||c.-139C>T|||||3899|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding||c.-139C>T|||||3899|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding||c.-139C>T|||||3899|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding||c.-961C>T|||||3096|,A|upstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay||n.-1C>T|||||2814|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding||c.-90C>T|||||4111|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.-1C>T|||||4101|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.-1C>T|||||4698|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.-183C>T|||||4320|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.-1C>T|||||2567|,A|upstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript||n.-1C>T|||||2313|,A|upstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript||n.-1C>T|||||1963|,A|upstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000468532|retained_intron||n.-1C>T|||||108|,A|upstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000489453|retained_intron||n.-1C>T|||||1786|,A|upstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000465842|retained_intron||n.-1C>T|||||146|,A|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000463053|processed_transcript|1/6|n.307-209C>T||||||,A|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|1/27|n.400C>T||||||,A|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron|1/9|n.289C>T||||||,A|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron|1/8|n.259C>T||||||,A|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron|1/10|n.280C>T||||||,A|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron|1/8|n.255C>T||||||,A|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000476289|retained_intron|1/5|n.289C>T|||||| 22 51021258 . C A . . ANN=A|5_prime_UTR_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding|1/11|c.-48G>T|||||48|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding||c.-52G>T|||||4412|,A|upstream_gene_variant|MODIFIER|CHKB-AS1|ENSG00000205559|transcript|ENST00000380711|antisense||n.-1C>A|||||197|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding||c.-106G>T|||||4809|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding||c.-139G>T|||||4162|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding||c.-139G>T|||||4162|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding||c.-139G>T|||||4162|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding||c.-961G>T|||||3359|,A|upstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay||n.-1G>T|||||3077|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding||c.-90G>T|||||4374|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.-1G>T|||||4364|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.-1G>T|||||4961|,A|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.-183G>T|||||4583|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.-1G>T|||||2830|,A|upstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript||n.-1G>T|||||2576|,A|upstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript||n.-1G>T|||||2226|,A|upstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron||n.-1G>T|||||5|,A|upstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron||n.-1G>T|||||9|,A|upstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000468532|retained_intron||n.-1G>T|||||371|,A|upstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000489453|retained_intron||n.-1G>T|||||2049|,A|upstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000465842|retained_intron||n.-1G>T|||||409|,A|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000463053|processed_transcript|1/6|n.307-472G>T||||||,A|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|1/27|n.137G>T||||||,A|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron|1/9|n.26G>T||||||,A|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron|1/10|n.17G>T||||||,A|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000476289|retained_intron|1/5|n.26G>T|||||| 22 51063571 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000216124|protein_coding|8/8|c.*2G>A|||||2|,T|3_prime_UTR_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000356098|protein_coding|9/9|c.*2G>A|||||2|,T|3_prime_UTR_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000547307|protein_coding|8/8|c.*2G>A|||||2|,T|3_prime_UTR_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000547805|protein_coding|9/9|c.*2G>A|||||2|,T|3_prime_UTR_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000395621|protein_coding|9/9|c.*2G>A|||||2|,T|3_prime_UTR_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000453344|protein_coding|8/8|c.*2G>A|||||2|,T|3_prime_UTR_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000395619|protein_coding|9/9|c.*2G>A|||||2|,T|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000610191|processed_transcript||n.-1G>A|||||1817|,T|downstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000551731|retained_intron||n.*1431G>A|||||1448|,T|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000608497|nonsense_mediated_decay|2/3|n.178+220G>A|||||| 22 51063610 . C T . . ANN=T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000216124|protein_coding|8/8|c.1493G>A|p.Arg498His|1886/2050|1493/1530|498/509||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000356098|protein_coding|9/9|c.1493G>A|p.Arg498His|1731/1895|1493/1530|498/509||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547307|protein_coding|8/8|c.1487G>A|p.Arg496His|1893/2053|1487/1524|496/507||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547805|protein_coding|9/9|c.1487G>A|p.Arg496His|1788/1948|1487/1524|496/507||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395621|protein_coding|9/9|c.1493G>A|p.Arg498His|1764/1918|1493/1530|498/509||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000453344|protein_coding|8/8|c.1235G>A|p.Arg412His|1497/1650|1235/1272|412/423||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395619|protein_coding|9/9|c.1493G>A|p.Arg498His|1675/1824|1493/1530|498/509||,T|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|8/8|c.1235G>A||||||,T|sequence_feature|LOW|ARSA|ENSG00000100299|turn|ENST00000453344|protein_coding|8/8|c.1235G>A||||||,T|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000610191|processed_transcript||n.-1G>A|||||1856|,T|downstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000551731|retained_intron||n.*1431G>A|||||1409|,T|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000608497|nonsense_mediated_decay|2/3|n.178+181G>A|||||| 22 51063616 . G A . . ANN=A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000216124|protein_coding|8/8|c.1487C>T|p.Thr496Ile|1880/2050|1487/1530|496/509||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000356098|protein_coding|9/9|c.1487C>T|p.Thr496Ile|1725/1895|1487/1530|496/509||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547307|protein_coding|8/8|c.1481C>T|p.Thr494Ile|1887/2053|1481/1524|494/507||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547805|protein_coding|9/9|c.1481C>T|p.Thr494Ile|1782/1948|1481/1524|494/507||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395621|protein_coding|9/9|c.1487C>T|p.Thr496Ile|1758/1918|1487/1530|496/509||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000453344|protein_coding|8/8|c.1229C>T|p.Thr410Ile|1491/1650|1229/1272|410/423||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395619|protein_coding|9/9|c.1487C>T|p.Thr496Ile|1669/1824|1487/1530|496/509||,A|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|8/8|c.1229C>T||||||,A|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000610191|processed_transcript||n.-1C>T|||||1862|,A|downstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000551731|retained_intron||n.*1431C>T|||||1403|,A|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000608497|nonsense_mediated_decay|2/3|n.178+175C>T|||||| 22 51063656 . C T . . ANN=T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000216124|protein_coding|8/8|c.1447G>A|p.Glu483Lys|1840/2050|1447/1530|483/509||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000356098|protein_coding|9/9|c.1447G>A|p.Glu483Lys|1685/1895|1447/1530|483/509||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547307|protein_coding|8/8|c.1441G>A|p.Glu481Lys|1847/2053|1441/1524|481/507||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547805|protein_coding|9/9|c.1441G>A|p.Glu481Lys|1742/1948|1441/1524|481/507||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395621|protein_coding|9/9|c.1447G>A|p.Glu483Lys|1718/1918|1447/1530|483/509||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000453344|protein_coding|8/8|c.1189G>A|p.Glu397Lys|1451/1650|1189/1272|397/423||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395619|protein_coding|9/9|c.1447G>A|p.Glu483Lys|1629/1824|1447/1530|483/509||,T|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000610191|processed_transcript||n.-1G>A|||||1902|,T|downstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000551731|retained_intron||n.*1431G>A|||||1363|,T|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000608497|nonsense_mediated_decay|2/3|n.178+135G>A|||||| 22 51063758 . C T . . ANN=T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000216124|protein_coding|8/8|c.1345G>A|p.Gly449Arg|1738/2050|1345/1530|449/509||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000356098|protein_coding|9/9|c.1345G>A|p.Gly449Arg|1583/1895|1345/1530|449/509||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547307|protein_coding|8/8|c.1339G>A|p.Gly447Arg|1745/2053|1339/1524|447/507||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547805|protein_coding|9/9|c.1339G>A|p.Gly447Arg|1640/1948|1339/1524|447/507||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395621|protein_coding|9/9|c.1345G>A|p.Gly449Arg|1616/1918|1345/1530|449/509||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000453344|protein_coding|8/8|c.1087G>A|p.Gly363Arg|1349/1650|1087/1272|363/423||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395619|protein_coding|9/9|c.1345G>A|p.Gly449Arg|1527/1824|1345/1530|449/509||,T|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000610191|processed_transcript||n.-1G>A|||||2004|,T|downstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000551731|retained_intron||n.*1431G>A|||||1261|,T|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000608497|nonsense_mediated_decay|2/3|n.178+33G>A|||||| 22 51063778 . T C . . ANN=C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000216124|protein_coding|8/8|c.1325A>G|p.Asn442Ser|1718/2050|1325/1530|442/509||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000356098|protein_coding|9/9|c.1325A>G|p.Asn442Ser|1563/1895|1325/1530|442/509||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547307|protein_coding|8/8|c.1319A>G|p.Asn440Ser|1725/2053|1319/1524|440/507||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547805|protein_coding|9/9|c.1319A>G|p.Asn440Ser|1620/1948|1319/1524|440/507||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395621|protein_coding|9/9|c.1325A>G|p.Asn442Ser|1596/1918|1325/1530|442/509||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000453344|protein_coding|8/8|c.1067A>G|p.Asn356Ser|1329/1650|1067/1272|356/423||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395619|protein_coding|9/9|c.1325A>G|p.Asn442Ser|1507/1824|1325/1530|442/509||,C|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000610191|processed_transcript||n.-1A>G|||||2024|,C|downstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000551731|retained_intron||n.*1431A>G|||||1241|,C|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000608497|nonsense_mediated_decay|2/3|n.178+13A>G|||||| 22 51063806 . G C . . ANN=C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000216124|protein_coding|8/8|c.1297C>G|p.Leu433Val|1690/2050|1297/1530|433/509||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000356098|protein_coding|9/9|c.1297C>G|p.Leu433Val|1535/1895|1297/1530|433/509||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547307|protein_coding|8/8|c.1291C>G|p.Leu431Val|1697/2053|1291/1524|431/507||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547805|protein_coding|9/9|c.1291C>G|p.Leu431Val|1592/1948|1291/1524|431/507||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395621|protein_coding|9/9|c.1297C>G|p.Leu433Val|1568/1918|1297/1530|433/509||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000453344|protein_coding|8/8|c.1039C>G|p.Leu347Val|1301/1650|1039/1272|347/423||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395619|protein_coding|9/9|c.1297C>G|p.Leu433Val|1479/1824|1297/1530|433/509||,C|sequence_feature|LOW|ARSA|ENSG00000100299|turn|ENST00000453344|protein_coding|8/8|c.1039C>G||||||,C|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000610191|processed_transcript||n.-1C>G|||||2052|,C|downstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000551731|retained_intron||n.*1431C>G|||||1213|,C|non_coding_exon_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000608497|nonsense_mediated_decay|2/4|n.163C>G|||||| 22 51063852 . G A . . ANN=A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000216124|protein_coding|8/8|c.1251C>T|p.His417His|1644/2050|1251/1530|417/509||,A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000356098|protein_coding|9/9|c.1251C>T|p.His417His|1489/1895|1251/1530|417/509||,A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000547307|protein_coding|8/8|c.1245C>T|p.His415His|1651/2053|1245/1524|415/507||,A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000547805|protein_coding|9/9|c.1245C>T|p.His415His|1546/1948|1245/1524|415/507||,A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000395621|protein_coding|9/9|c.1251C>T|p.His417His|1522/1918|1251/1530|417/509||,A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000453344|protein_coding|8/8|c.993C>T|p.His331His|1255/1650|993/1272|331/423||,A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000395619|protein_coding|9/9|c.1251C>T|p.His417His|1433/1824|1251/1530|417/509||,A|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000610191|processed_transcript||n.-1C>T|||||2098|,A|downstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000551731|retained_intron||n.*1431C>T|||||1167|,A|non_coding_exon_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000608497|nonsense_mediated_decay|2/4|n.117C>T|||||| 22 51063959 . G A . . ANN=A|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|7/8|c.952+48C>T||||||,A|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|8/8|c.952+48C>T||||||,A|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|5/8|c.952+48C>T||||||,A|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|6/8|c.952+48C>T||||||,A|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000610191|processed_transcript||n.-1C>T|||||2205|,A|downstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000551731|retained_intron||n.*1431C>T|||||1060|,A|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000216124|protein_coding|7/7|c.1210+48C>T||||||,A|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000608497|nonsense_mediated_decay|1/3|n.76+48C>T||||||,A|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000356098|protein_coding|8/8|c.1210+48C>T||||||,A|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000547307|protein_coding|7/7|c.1204+48C>T||||||,A|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000547805|protein_coding|8/8|c.1204+48C>T||||||,A|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000395621|protein_coding|8/8|c.1210+48C>T||||||,A|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000453344|protein_coding|7/7|c.952+48C>T||||||,A|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000395619|protein_coding|8/8|c.1210+48C>T|||||| 22 51063987 . G C . . ANN=C|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|7/8|c.952+20C>G||||||,C|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|8/8|c.952+20C>G||||||,C|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|5/8|c.952+20C>G||||||,C|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|6/8|c.952+20C>G||||||,C|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000610191|processed_transcript||n.-1C>G|||||2233|,C|downstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000551731|retained_intron||n.*1431C>G|||||1032|,C|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000216124|protein_coding|7/7|c.1210+20C>G||||||,C|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000608497|nonsense_mediated_decay|1/3|n.76+20C>G||||||,C|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000356098|protein_coding|8/8|c.1210+20C>G||||||,C|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000547307|protein_coding|7/7|c.1204+20C>G||||||,C|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000547805|protein_coding|8/8|c.1204+20C>G||||||,C|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000395621|protein_coding|8/8|c.1210+20C>G||||||,C|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000453344|protein_coding|7/7|c.952+20C>G||||||,C|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000395619|protein_coding|8/8|c.1210+20C>G|||||| 22 51063994 . G T . . ANN=T|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|7/8|c.952+13C>A||||||,T|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|8/8|c.952+13C>A||||||,T|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|5/8|c.952+13C>A||||||,T|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|6/8|c.952+13C>A||||||,T|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000610191|processed_transcript||n.-1C>A|||||2240|,T|downstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000551731|retained_intron||n.*1431C>A|||||1025|,T|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000216124|protein_coding|7/7|c.1210+13C>A||||||,T|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000608497|nonsense_mediated_decay|1/3|n.76+13C>A||||||,T|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000356098|protein_coding|8/8|c.1210+13C>A||||||,T|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000547307|protein_coding|7/7|c.1204+13C>A||||||,T|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000547805|protein_coding|8/8|c.1204+13C>A||||||,T|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000395621|protein_coding|8/8|c.1210+13C>A||||||,T|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000453344|protein_coding|7/7|c.952+13C>A||||||,T|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000395619|protein_coding|8/8|c.1210+13C>A|||||| 22 51064039 . G C . . ANN=C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000216124|protein_coding|7/8|c.1178C>G|p.Thr393Ser|1571/2050|1178/1530|393/509||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000356098|protein_coding|8/9|c.1178C>G|p.Thr393Ser|1416/1895|1178/1530|393/509||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547307|protein_coding|7/8|c.1172C>G|p.Thr391Ser|1578/2053|1172/1524|391/507||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547805|protein_coding|8/9|c.1172C>G|p.Thr391Ser|1473/1948|1172/1524|391/507||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395621|protein_coding|8/9|c.1178C>G|p.Thr393Ser|1449/1918|1178/1530|393/509||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000453344|protein_coding|7/8|c.920C>G|p.Thr307Ser|1182/1650|920/1272|307/423||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395619|protein_coding|8/9|c.1178C>G|p.Thr393Ser|1360/1824|1178/1530|393/509||,C|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|7/8|c.920C>G||||||,C|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|8/8|c.920C>G||||||,C|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|5/8|c.920C>G||||||,C|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|6/8|c.920C>G||||||,C|sequence_feature|LOW|ARSA|ENSG00000100299|beta_strand|ENST00000453344|protein_coding|7/8|c.920C>G||||||,C|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000610191|processed_transcript||n.-1C>G|||||2285|,C|downstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000551731|retained_intron||n.*1431C>G|||||980|,C|non_coding_exon_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000608497|nonsense_mediated_decay|1/4|n.44C>G|||||| 22 51064068 . G A . . ANN=A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000216124|protein_coding|7/8|c.1149C>T|p.Asp383Asp|1542/2050|1149/1530|383/509||,A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000356098|protein_coding|8/9|c.1149C>T|p.Asp383Asp|1387/1895|1149/1530|383/509||,A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000547307|protein_coding|7/8|c.1143C>T|p.Asp381Asp|1549/2053|1143/1524|381/507||,A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000547805|protein_coding|8/9|c.1143C>T|p.Asp381Asp|1444/1948|1143/1524|381/507||,A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000395621|protein_coding|8/9|c.1149C>T|p.Asp383Asp|1420/1918|1149/1530|383/509||,A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000453344|protein_coding|7/8|c.891C>T|p.Asp297Asp|1153/1650|891/1272|297/423||,A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000395619|protein_coding|8/9|c.1149C>T|p.Asp383Asp|1331/1824|1149/1530|383/509||,A|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|7/8|c.891C>T||||||,A|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|8/8|c.891C>T||||||,A|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|5/8|c.891C>T||||||,A|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|6/8|c.891C>T||||||,A|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000610191|processed_transcript||n.-1C>T|||||2314|,A|downstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000551731|retained_intron||n.*1431C>T|||||951|,A|non_coding_exon_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000608497|nonsense_mediated_decay|1/4|n.15C>T|||||| 22 51064138 . G A . . ANN=A|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|7/8|c.850-29C>T||||||,A|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|8/8|c.850-29C>T||||||,A|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|5/8|c.850-29C>T||||||,A|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|6/8|c.850-29C>T||||||,A|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000610191|processed_transcript||n.-1C>T|||||2384|,A|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000608497|nonsense_mediated_decay||n.-3C>T|||||54|,A|downstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000551731|retained_intron||n.*1431C>T|||||881|,A|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000216124|protein_coding|6/7|c.1108-29C>T||||||,A|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000356098|protein_coding|7/8|c.1108-29C>T||||||,A|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000547307|protein_coding|6/7|c.1102-29C>T||||||,A|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000547805|protein_coding|7/8|c.1102-29C>T||||||,A|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000395621|protein_coding|7/8|c.1108-29C>T||||||,A|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000453344|protein_coding|6/7|c.850-29C>T||||||,A|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000395619|protein_coding|7/8|c.1108-29C>T|||||| 22 51064141 . G A . . ANN=A|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|7/8|c.850-32C>T||||||,A|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|8/8|c.850-32C>T||||||,A|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|5/8|c.850-32C>T||||||,A|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|6/8|c.850-32C>T||||||,A|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000610191|processed_transcript||n.-1C>T|||||2387|,A|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000608497|nonsense_mediated_decay||n.-3C>T|||||57|,A|downstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000551731|retained_intron||n.*1431C>T|||||878|,A|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000216124|protein_coding|6/7|c.1108-32C>T||||||,A|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000356098|protein_coding|7/8|c.1108-32C>T||||||,A|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000547307|protein_coding|6/7|c.1102-32C>T||||||,A|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000547805|protein_coding|7/8|c.1102-32C>T||||||,A|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000395621|protein_coding|7/8|c.1108-32C>T||||||,A|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000453344|protein_coding|6/7|c.850-32C>T||||||,A|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000395619|protein_coding|7/8|c.1108-32C>T|||||| 22 51064365 . T G . . ANN=G|missense_variant&splice_region_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000216124|protein_coding|6/8|c.1106A>C|p.Lys369Thr|1499/2050|1106/1530|369/509||,G|missense_variant&splice_region_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000356098|protein_coding|7/9|c.1106A>C|p.Lys369Thr|1344/1895|1106/1530|369/509||,G|missense_variant&splice_region_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547307|protein_coding|6/8|c.1100A>C|p.Lys367Thr|1506/2053|1100/1524|367/507||,G|missense_variant&splice_region_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547805|protein_coding|7/9|c.1100A>C|p.Lys367Thr|1401/1948|1100/1524|367/507||,G|missense_variant&splice_region_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395621|protein_coding|7/9|c.1106A>C|p.Lys369Thr|1377/1918|1106/1530|369/509||,G|missense_variant&splice_region_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000453344|protein_coding|6/8|c.848A>C|p.Lys283Thr|1110/1650|848/1272|283/423||,G|missense_variant&splice_region_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395619|protein_coding|7/9|c.1106A>C|p.Lys369Thr|1288/1824|1106/1530|369/509||,G|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|7/8|c.848A>C||||||,G|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|8/8|c.848A>C||||||,G|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|5/8|c.848A>C||||||,G|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|6/8|c.848A>C||||||,G|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000610191|processed_transcript||n.-1A>C|||||2611|,G|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000608497|nonsense_mediated_decay||n.-3A>C|||||281|,G|downstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000551731|retained_intron||n.*1431A>C|||||654| 22 51064416 . T C . . ANN=C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000216124|protein_coding|6/8|c.1055A>G|p.Asn352Ser|1448/2050|1055/1530|352/509||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000356098|protein_coding|7/9|c.1055A>G|p.Asn352Ser|1293/1895|1055/1530|352/509||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547307|protein_coding|6/8|c.1049A>G|p.Asn350Ser|1455/2053|1049/1524|350/507||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547805|protein_coding|7/9|c.1049A>G|p.Asn350Ser|1350/1948|1049/1524|350/507||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395621|protein_coding|7/9|c.1055A>G|p.Asn352Ser|1326/1918|1055/1530|352/509||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000453344|protein_coding|6/8|c.797A>G|p.Asn266Ser|1059/1650|797/1272|266/423||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395619|protein_coding|7/9|c.1055A>G|p.Asn352Ser|1237/1824|1055/1530|352/509||,C|sequence_feature|MODERATE|ARSA|ENSG00000100299|glycosylation_site:N-linked__GlcNAc..._|ENST00000453344|protein_coding|6/8|c.797A>G||||||,C|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|7/8|c.797A>G||||||,C|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|8/8|c.797A>G||||||,C|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|5/8|c.797A>G||||||,C|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|6/8|c.797A>G||||||,C|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000610191|processed_transcript||n.-1A>G|||||2662|,C|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000608497|nonsense_mediated_decay||n.-3A>G|||||332|,C|downstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000551731|retained_intron||n.*1431A>G|||||603| 22 51064469 . G A . . ANN=A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000216124|protein_coding|6/8|c.1002C>T|p.Ser334Ser|1395/2050|1002/1530|334/509||,A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000356098|protein_coding|7/9|c.1002C>T|p.Ser334Ser|1240/1895|1002/1530|334/509||,A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000547307|protein_coding|6/8|c.996C>T|p.Ser332Ser|1402/2053|996/1524|332/507||,A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000547805|protein_coding|7/9|c.996C>T|p.Ser332Ser|1297/1948|996/1524|332/507||,A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000395621|protein_coding|7/9|c.1002C>T|p.Ser334Ser|1273/1918|1002/1530|334/509||,A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000453344|protein_coding|6/8|c.744C>T|p.Ser248Ser|1006/1650|744/1272|248/423||,A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000395619|protein_coding|7/9|c.1002C>T|p.Ser334Ser|1184/1824|1002/1530|334/509||,A|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|7/8|c.744C>T||||||,A|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|8/8|c.744C>T||||||,A|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|5/8|c.744C>T||||||,A|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|6/8|c.744C>T||||||,A|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000610191|processed_transcript||n.-1C>T|||||2715|,A|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000608497|nonsense_mediated_decay||n.-3C>T|||||385|,A|downstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000551731|retained_intron||n.*1431C>T|||||550| 22 51064489 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000216124|protein_coding|6/8|c.982G>A|p.Val328Met|1375/2050|982/1530|328/509||,T|missense_variant&splice_region_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000356098|protein_coding|7/9|c.982G>A|p.Val328Met|1220/1895|982/1530|328/509||,T|missense_variant&splice_region_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547307|protein_coding|6/8|c.976G>A|p.Val326Met|1382/2053|976/1524|326/507||,T|missense_variant&splice_region_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547805|protein_coding|7/9|c.976G>A|p.Val326Met|1277/1948|976/1524|326/507||,T|missense_variant&splice_region_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395621|protein_coding|7/9|c.982G>A|p.Val328Met|1253/1918|982/1530|328/509||,T|missense_variant&splice_region_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000453344|protein_coding|6/8|c.724G>A|p.Val242Met|986/1650|724/1272|242/423||,T|missense_variant&splice_region_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395619|protein_coding|7/9|c.982G>A|p.Val328Met|1164/1824|982/1530|328/509||,T|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|7/8|c.724G>A||||||,T|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|8/8|c.724G>A||||||,T|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|5/8|c.724G>A||||||,T|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|6/8|c.724G>A||||||,T|sequence_feature|LOW|ARSA|ENSG00000100299|beta_strand|ENST00000453344|protein_coding|5/8|c.724G>A||||||,T|sequence_feature|LOW|ARSA|ENSG00000100299|beta_strand|ENST00000453344|protein_coding|6/8|c.724G>A||||||,T|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000610191|processed_transcript||n.-1G>A|||||2735|,T|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000608497|nonsense_mediated_decay||n.-3G>A|||||405|,T|downstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000551731|retained_intron||n.*1431G>A|||||530| 22 51064524 . C T . . ANN=T|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|7/8|c.722-33G>A||||||,T|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|8/8|c.722-33G>A||||||,T|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|5/8|c.722-33G>A||||||,T|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|6/8|c.722-33G>A||||||,T|sequence_feature|LOW|ARSA|ENSG00000100299|beta_strand|ENST00000453344|protein_coding|5/8|c.722-33G>A||||||,T|sequence_feature|LOW|ARSA|ENSG00000100299|beta_strand|ENST00000453344|protein_coding|6/8|c.722-33G>A||||||,T|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000610191|processed_transcript||n.-1G>A|||||2770|,T|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000608497|nonsense_mediated_decay||n.-3G>A|||||440|,T|downstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000551731|retained_intron||n.*1431G>A|||||495|,T|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000216124|protein_coding|5/7|c.980-33G>A||||||,T|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000356098|protein_coding|6/8|c.980-33G>A||||||,T|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000547307|protein_coding|5/7|c.974-33G>A||||||,T|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000547805|protein_coding|6/8|c.974-33G>A||||||,T|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000395621|protein_coding|6/8|c.980-33G>A||||||,T|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000453344|protein_coding|5/7|c.722-33G>A||||||,T|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000395619|protein_coding|6/8|c.980-33G>A|||||| 22 51064544 . T C . . ANN=C|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|7/8|c.721+38A>G||||||,C|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|8/8|c.721+38A>G||||||,C|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|5/8|c.721+38A>G||||||,C|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|6/8|c.721+38A>G||||||,C|sequence_feature|LOW|ARSA|ENSG00000100299|beta_strand|ENST00000453344|protein_coding|5/8|c.721+38A>G||||||,C|sequence_feature|LOW|ARSA|ENSG00000100299|beta_strand|ENST00000453344|protein_coding|6/8|c.721+38A>G||||||,C|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000610191|processed_transcript||n.-1A>G|||||2790|,C|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000608497|nonsense_mediated_decay||n.-3A>G|||||460|,C|downstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000551731|retained_intron||n.*1431A>G|||||475|,C|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000216124|protein_coding|5/7|c.979+38A>G||||||,C|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000356098|protein_coding|6/8|c.979+38A>G||||||,C|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000547307|protein_coding|5/7|c.973+38A>G||||||,C|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000547805|protein_coding|6/8|c.973+38A>G||||||,C|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000395621|protein_coding|6/8|c.979+38A>G||||||,C|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000453344|protein_coding|5/7|c.721+38A>G||||||,C|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000395619|protein_coding|6/8|c.979+38A>G|||||| 22 51064589 . G A . . ANN=A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000216124|protein_coding|5/8|c.972C>T|p.Ile324Ile|1365/2050|972/1530|324/509||,A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000356098|protein_coding|6/9|c.972C>T|p.Ile324Ile|1210/1895|972/1530|324/509||,A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000547307|protein_coding|5/8|c.966C>T|p.Ile322Ile|1372/2053|966/1524|322/507||,A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000547805|protein_coding|6/9|c.966C>T|p.Ile322Ile|1267/1948|966/1524|322/507||,A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000395621|protein_coding|6/9|c.972C>T|p.Ile324Ile|1243/1918|972/1530|324/509||,A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000453344|protein_coding|5/8|c.714C>T|p.Ile238Ile|976/1650|714/1272|238/423||,A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000395619|protein_coding|6/9|c.972C>T|p.Ile324Ile|1154/1824|972/1530|324/509||,A|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|7/8|c.714C>T||||||,A|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|8/8|c.714C>T||||||,A|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|5/8|c.714C>T||||||,A|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|6/8|c.714C>T||||||,A|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000610191|processed_transcript||n.-1C>T|||||2835|,A|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000608497|nonsense_mediated_decay||n.-3C>T|||||505|,A|downstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000551731|retained_intron||n.*1431C>T|||||430| 22 51064659 . C T . . ANN=T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000216124|protein_coding|5/8|c.902G>A|p.Arg301Gln|1295/2050|902/1530|301/509||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000356098|protein_coding|6/9|c.902G>A|p.Arg301Gln|1140/1895|902/1530|301/509||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547307|protein_coding|5/8|c.896G>A|p.Arg299Gln|1302/2053|896/1524|299/507||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547805|protein_coding|6/9|c.896G>A|p.Arg299Gln|1197/1948|896/1524|299/507||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395621|protein_coding|6/9|c.902G>A|p.Arg301Gln|1173/1918|902/1530|301/509||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000453344|protein_coding|5/8|c.644G>A|p.Arg215Gln|906/1650|644/1272|215/423||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395619|protein_coding|6/9|c.902G>A|p.Arg301Gln|1084/1824|902/1530|301/509||,T|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000610191|processed_transcript||n.-1G>A|||||2905|,T|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000608497|nonsense_mediated_decay||n.-3G>A|||||575|,T|downstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000551731|retained_intron||n.*1431G>A|||||360| 22 51064668 . C A . . ANN=A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000216124|protein_coding|5/8|c.893G>T|p.Gly298Val|1286/2050|893/1530|298/509||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000356098|protein_coding|6/9|c.893G>T|p.Gly298Val|1131/1895|893/1530|298/509||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547307|protein_coding|5/8|c.887G>T|p.Gly296Val|1293/2053|887/1524|296/507||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547805|protein_coding|6/9|c.887G>T|p.Gly296Val|1188/1948|887/1524|296/507||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395621|protein_coding|6/9|c.893G>T|p.Gly298Val|1164/1918|893/1530|298/509||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000453344|protein_coding|5/8|c.635G>T|p.Gly212Val|897/1650|635/1272|212/423||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395619|protein_coding|6/9|c.893G>T|p.Gly298Val|1075/1824|893/1530|298/509||,A|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000610191|processed_transcript||n.-1G>T|||||2914|,A|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000608497|nonsense_mediated_decay||n.-3G>T|||||584|,A|downstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000551731|retained_intron||n.*1431G>T|||||351| 22 51065229 . G A . . ANN=A|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000610191|processed_transcript||n.-1C>T|||||3475|,A|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000608497|nonsense_mediated_decay||n.-3C>T|||||1145|,A|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000216124|protein_coding|3/7|c.684+33C>T||||||,A|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000356098|protein_coding|4/8|c.684+33C>T||||||,A|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000547307|protein_coding|3/7|c.678+33C>T||||||,A|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000547805|protein_coding|4/8|c.678+33C>T||||||,A|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000395621|protein_coding|4/8|c.684+33C>T||||||,A|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000453344|protein_coding|3/7|c.426+33C>T||||||,A|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000395619|protein_coding|4/8|c.684+33C>T||||||,A|non_coding_exon_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000551731|retained_intron|2/2|n.1221C>T|||||| 22 51065266 . G C . . ANN=C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000216124|protein_coding|3/8|c.680C>G|p.Ser227Cys|1073/2050|680/1530|227/509||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000356098|protein_coding|4/9|c.680C>G|p.Ser227Cys|918/1895|680/1530|227/509||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547307|protein_coding|3/8|c.674C>G|p.Ser225Cys|1080/2053|674/1524|225/507||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547805|protein_coding|4/9|c.674C>G|p.Ser225Cys|975/1948|674/1524|225/507||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395621|protein_coding|4/9|c.680C>G|p.Ser227Cys|951/1918|680/1530|227/509||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000453344|protein_coding|3/8|c.422C>G|p.Ser141Cys|684/1650|422/1272|141/423||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395619|protein_coding|4/9|c.680C>G|p.Ser227Cys|862/1824|680/1530|227/509||,C|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000610191|processed_transcript||n.-1C>G|||||3512|,C|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000608497|nonsense_mediated_decay||n.-3C>G|||||1182|,C|non_coding_exon_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000551731|retained_intron|2/2|n.1184C>G|||||| 22 51065287 . G A . . ANN=A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000216124|protein_coding|3/8|c.659C>T|p.Pro220Leu|1052/2050|659/1530|220/509||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000356098|protein_coding|4/9|c.659C>T|p.Pro220Leu|897/1895|659/1530|220/509||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547307|protein_coding|3/8|c.653C>T|p.Pro218Leu|1059/2053|653/1524|218/507||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547805|protein_coding|4/9|c.653C>T|p.Pro218Leu|954/1948|653/1524|218/507||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395621|protein_coding|4/9|c.659C>T|p.Pro220Leu|930/1918|659/1530|220/509||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000453344|protein_coding|3/8|c.401C>T|p.Pro134Leu|663/1650|401/1272|134/423||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395619|protein_coding|4/9|c.659C>T|p.Pro220Leu|841/1824|659/1530|220/509||,A|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000610191|processed_transcript||n.-1C>T|||||3533|,A|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000608497|nonsense_mediated_decay||n.-3C>T|||||1203|,A|non_coding_exon_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000551731|retained_intron|2/2|n.1163C>T|||||| 22 51065310 . G A . . ANN=A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000216124|protein_coding|3/8|c.636C>T|p.Ala212Ala|1029/2050|636/1530|212/509||,A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000356098|protein_coding|4/9|c.636C>T|p.Ala212Ala|874/1895|636/1530|212/509||,A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000547307|protein_coding|3/8|c.630C>T|p.Ala210Ala|1036/2053|630/1524|210/507||,A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000547805|protein_coding|4/9|c.630C>T|p.Ala210Ala|931/1948|630/1524|210/507||,A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000395621|protein_coding|4/9|c.636C>T|p.Ala212Ala|907/1918|636/1530|212/509||,A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000453344|protein_coding|3/8|c.378C>T|p.Ala126Ala|640/1650|378/1272|126/423||,A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000395619|protein_coding|4/9|c.636C>T|p.Ala212Ala|818/1824|636/1530|212/509||,A|sequence_feature|LOW|ARSA|ENSG00000100299|helix|ENST00000453344|protein_coding|3/8|c.378C>T||||||,A|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000610191|processed_transcript||n.-1C>T|||||3556|,A|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000608497|nonsense_mediated_decay||n.-3C>T|||||1226|,A|non_coding_exon_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000551731|retained_intron|2/2|n.1140C>T|||||| 22 51065322 . A G . . ANN=G|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000216124|protein_coding|3/8|c.624T>C|p.His208His|1017/2050|624/1530|208/509||,G|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000356098|protein_coding|4/9|c.624T>C|p.His208His|862/1895|624/1530|208/509||,G|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000547307|protein_coding|3/8|c.618T>C|p.His206His|1024/2053|618/1524|206/507||,G|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000547805|protein_coding|4/9|c.618T>C|p.His206His|919/1948|618/1524|206/507||,G|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000395621|protein_coding|4/9|c.624T>C|p.His208His|895/1918|624/1530|208/509||,G|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000453344|protein_coding|3/8|c.366T>C|p.His122His|628/1650|366/1272|122/423||,G|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000395619|protein_coding|4/9|c.624T>C|p.His208His|806/1824|624/1530|208/509||,G|sequence_feature|LOW|ARSA|ENSG00000100299|helix|ENST00000453344|protein_coding|3/8|c.366T>C||||||,G|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000610191|processed_transcript||n.-1T>C|||||3568|,G|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000608497|nonsense_mediated_decay||n.-3T>C|||||1238|,G|non_coding_exon_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000551731|retained_intron|2/2|n.1128T>C|||||| 22 51065341 . C T . . ANN=T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000216124|protein_coding|3/8|c.605G>A|p.Arg202His|998/2050|605/1530|202/509||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000356098|protein_coding|4/9|c.605G>A|p.Arg202His|843/1895|605/1530|202/509||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547307|protein_coding|3/8|c.599G>A|p.Arg200His|1005/2053|599/1524|200/507||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547805|protein_coding|4/9|c.599G>A|p.Arg200His|900/1948|599/1524|200/507||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395621|protein_coding|4/9|c.605G>A|p.Arg202His|876/1918|605/1530|202/509||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000453344|protein_coding|3/8|c.347G>A|p.Arg116His|609/1650|347/1272|116/423||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395619|protein_coding|4/9|c.605G>A|p.Arg202His|787/1824|605/1530|202/509||,T|sequence_feature|LOW|ARSA|ENSG00000100299|helix|ENST00000453344|protein_coding|3/8|c.347G>A||||||,T|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000610191|processed_transcript||n.-1G>A|||||3587|,T|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000608497|nonsense_mediated_decay||n.-3G>A|||||1257|,T|non_coding_exon_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000551731|retained_intron|2/2|n.1109G>A|||||| 22 51065361 . C A . . ANN=A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000216124|protein_coding|3/8|c.585G>T|p.Trp195Cys|978/2050|585/1530|195/509||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000356098|protein_coding|4/9|c.585G>T|p.Trp195Cys|823/1895|585/1530|195/509||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547307|protein_coding|3/8|c.579G>T|p.Trp193Cys|985/2053|579/1524|193/507||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547805|protein_coding|4/9|c.579G>T|p.Trp193Cys|880/1948|579/1524|193/507||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395621|protein_coding|4/9|c.585G>T|p.Trp195Cys|856/1918|585/1530|195/509||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000453344|protein_coding|3/8|c.327G>T|p.Trp109Cys|589/1650|327/1272|109/423||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395619|protein_coding|4/9|c.585G>T|p.Trp195Cys|767/1824|585/1530|195/509||,A|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000610191|processed_transcript||n.-1G>T|||||3607|,A|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000608497|nonsense_mediated_decay||n.-3G>T|||||1277|,A|non_coding_exon_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000551731|retained_intron|2/2|n.1089G>T|||||| 22 51065382 . G A . . ANN=A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000216124|protein_coding|3/8|c.564C>T|p.Ser188Ser|957/2050|564/1530|188/509||,A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000356098|protein_coding|4/9|c.564C>T|p.Ser188Ser|802/1895|564/1530|188/509||,A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000547307|protein_coding|3/8|c.558C>T|p.Ser186Ser|964/2053|558/1524|186/507||,A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000547805|protein_coding|4/9|c.558C>T|p.Ser186Ser|859/1948|558/1524|186/507||,A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000395621|protein_coding|4/9|c.564C>T|p.Ser188Ser|835/1918|564/1530|188/509||,A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000453344|protein_coding|3/8|c.306C>T|p.Ser102Ser|568/1650|306/1272|102/423||,A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000395619|protein_coding|4/9|c.564C>T|p.Ser188Ser|746/1824|564/1530|188/509||,A|sequence_feature|LOW|ARSA|ENSG00000100299|beta_strand|ENST00000453344|protein_coding|3/8|c.306C>T||||||,A|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000610191|processed_transcript||n.-1C>T|||||3628|,A|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000608497|nonsense_mediated_decay||n.-3C>T|||||1298|,A|non_coding_exon_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000551731|retained_intron|2/2|n.1068C>T|||||| 22 51065451 . C T . . ANN=T|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000216124|protein_coding|3/8|c.495G>A|p.Pro165Pro|888/2050|495/1530|165/509||,T|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000356098|protein_coding|4/9|c.495G>A|p.Pro165Pro|733/1895|495/1530|165/509||,T|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000547307|protein_coding|3/8|c.489G>A|p.Pro163Pro|895/2053|489/1524|163/507||,T|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000547805|protein_coding|4/9|c.489G>A|p.Pro163Pro|790/1948|489/1524|163/507||,T|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000395621|protein_coding|4/9|c.495G>A|p.Pro165Pro|766/1918|495/1530|165/509||,T|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000453344|protein_coding|3/8|c.237G>A|p.Pro79Pro|499/1650|237/1272|79/423||,T|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000395619|protein_coding|4/9|c.495G>A|p.Pro165Pro|677/1824|495/1530|165/509||,T|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|3/8|c.237G>A||||||,T|sequence_feature|LOW|ARSA|ENSG00000100299|turn|ENST00000453344|protein_coding|3/8|c.237G>A||||||,T|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000610191|processed_transcript||n.-1G>A|||||3697|,T|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000608497|nonsense_mediated_decay||n.-3G>A|||||1367|,T|non_coding_exon_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000551731|retained_intron|2/2|n.999G>A|||||| 22 51065487 . C G . . ANN=G|splice_region_variant&intron_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000216124|protein_coding|2/7|c.466-7G>C||||||,G|splice_region_variant&intron_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000356098|protein_coding|3/8|c.466-7G>C||||||,G|splice_region_variant&intron_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000547307|protein_coding|2/7|c.460-7G>C||||||,G|splice_region_variant&intron_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000547805|protein_coding|3/8|c.460-7G>C||||||,G|splice_region_variant&intron_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000395621|protein_coding|3/8|c.466-7G>C||||||,G|splice_region_variant&intron_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000453344|protein_coding|2/7|c.208-7G>C||||||,G|splice_region_variant&intron_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000395619|protein_coding|3/8|c.466-7G>C||||||,G|sequence_feature|LOW|ARSA|ENSG00000100299|beta_strand|ENST00000453344|protein_coding|2/8|c.208-7G>C||||||,G|sequence_feature|LOW|ARSA|ENSG00000100299|beta_strand|ENST00000453344|protein_coding|3/8|c.208-7G>C||||||,G|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000610191|processed_transcript||n.-1G>C|||||3733|,G|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000608497|nonsense_mediated_decay||n.-3G>C|||||1403|,G|non_coding_exon_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000551731|retained_intron|2/2|n.963G>C|||||| 22 51065524 . C A . . ANN=A|sequence_feature|LOW|ARSA|ENSG00000100299|beta_strand|ENST00000453344|protein_coding|2/8|c.208-44G>T||||||,A|sequence_feature|LOW|ARSA|ENSG00000100299|beta_strand|ENST00000453344|protein_coding|3/8|c.208-44G>T||||||,A|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000610191|processed_transcript||n.-1G>T|||||3770|,A|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000608497|nonsense_mediated_decay||n.-3G>T|||||1440|,A|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000216124|protein_coding|2/7|c.466-44G>T||||||,A|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000356098|protein_coding|3/8|c.466-44G>T||||||,A|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000547307|protein_coding|2/7|c.460-44G>T||||||,A|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000547805|protein_coding|3/8|c.460-44G>T||||||,A|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000395621|protein_coding|3/8|c.466-44G>T||||||,A|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000453344|protein_coding|2/7|c.208-44G>T||||||,A|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000395619|protein_coding|3/8|c.466-44G>T||||||,A|non_coding_exon_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000551731|retained_intron|2/2|n.926G>T|||||| 22 51065581 . G A . . ANN=A|sequence_feature|LOW|ARSA|ENSG00000100299|beta_strand|ENST00000453344|protein_coding|2/8|c.207+13C>T||||||,A|sequence_feature|LOW|ARSA|ENSG00000100299|beta_strand|ENST00000453344|protein_coding|3/8|c.207+13C>T||||||,A|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000610191|processed_transcript||n.-1C>T|||||3827|,A|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000608497|nonsense_mediated_decay||n.-3C>T|||||1497|,A|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000216124|protein_coding|2/7|c.465+13C>T||||||,A|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000356098|protein_coding|3/8|c.465+13C>T||||||,A|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000547307|protein_coding|2/7|c.459+13C>T||||||,A|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000547805|protein_coding|3/8|c.459+13C>T||||||,A|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000395621|protein_coding|3/8|c.465+13C>T||||||,A|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000453344|protein_coding|2/7|c.207+13C>T||||||,A|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000395619|protein_coding|3/8|c.465+13C>T||||||,A|non_coding_exon_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000551731|retained_intron|2/2|n.869C>T|||||| 22 51065600 . G A . . ANN=A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000216124|protein_coding|2/8|c.459C>T|p.His153His|852/2050|459/1530|153/509||,A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000356098|protein_coding|3/9|c.459C>T|p.His153His|697/1895|459/1530|153/509||,A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000547307|protein_coding|2/8|c.453C>T|p.His151His|859/2053|453/1524|151/507||,A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000547805|protein_coding|3/9|c.453C>T|p.His151His|754/1948|453/1524|151/507||,A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000395621|protein_coding|3/9|c.459C>T|p.His153His|730/1918|459/1530|153/509||,A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000453344|protein_coding|2/8|c.201C>T|p.His67His|463/1650|201/1272|67/423||,A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000395619|protein_coding|3/9|c.459C>T|p.His153His|641/1824|459/1530|153/509||,A|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000610191|processed_transcript||n.-1C>T|||||3846|,A|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000608497|nonsense_mediated_decay||n.-3C>T|||||1516|,A|non_coding_exon_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000551731|retained_intron|2/2|n.850C>T|||||| 22 51065610 . G A . . ANN=A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000216124|protein_coding|2/8|c.449C>T|p.Pro150Leu|842/2050|449/1530|150/509||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000356098|protein_coding|3/9|c.449C>T|p.Pro150Leu|687/1895|449/1530|150/509||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547307|protein_coding|2/8|c.443C>T|p.Pro148Leu|849/2053|443/1524|148/507||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547805|protein_coding|3/9|c.443C>T|p.Pro148Leu|744/1948|443/1524|148/507||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395621|protein_coding|3/9|c.449C>T|p.Pro150Leu|720/1918|449/1530|150/509||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000453344|protein_coding|2/8|c.191C>T|p.Pro64Leu|453/1650|191/1272|64/423||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395619|protein_coding|3/9|c.449C>T|p.Pro150Leu|631/1824|449/1530|150/509||,A|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000610191|processed_transcript||n.-1C>T|||||3856|,A|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000608497|nonsense_mediated_decay||n.-3C>T|||||1526|,A|non_coding_exon_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000551731|retained_intron|2/2|n.840C>T|||||| 22 51065642 . G A . . ANN=A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000216124|protein_coding|2/8|c.417C>T|p.Pro139Pro|810/2050|417/1530|139/509||,A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000356098|protein_coding|3/9|c.417C>T|p.Pro139Pro|655/1895|417/1530|139/509||,A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000547307|protein_coding|2/8|c.411C>T|p.Pro137Pro|817/2053|411/1524|137/507||,A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000547805|protein_coding|3/9|c.411C>T|p.Pro137Pro|712/1948|411/1524|137/507||,A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000395621|protein_coding|3/9|c.417C>T|p.Pro139Pro|688/1918|417/1530|139/509||,A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000453344|protein_coding|2/8|c.159C>T|p.Pro53Pro|421/1650|159/1272|53/423||,A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000395619|protein_coding|3/9|c.417C>T|p.Pro139Pro|599/1824|417/1530|139/509||,A|sequence_feature|LOW|ARSA|ENSG00000100299|helix|ENST00000453344|protein_coding|2/8|c.159C>T||||||,A|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000610191|processed_transcript||n.-1C>T|||||3888|,A|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000608497|nonsense_mediated_decay||n.-3C>T|||||1558|,A|non_coding_exon_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000551731|retained_intron|2/2|n.808C>T|||||| 22 51065816 . G A . . ANN=A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000216124|protein_coding|2/8|c.243C>T|p.Gly81Gly|636/2050|243/1530|81/509||,A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000356098|protein_coding|3/9|c.243C>T|p.Gly81Gly|481/1895|243/1530|81/509||,A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000547307|protein_coding|2/8|c.237C>T|p.Gly79Gly|643/2053|237/1524|79/507||,A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000547805|protein_coding|3/9|c.237C>T|p.Gly79Gly|538/1948|237/1524|79/507||,A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000395621|protein_coding|3/9|c.243C>T|p.Gly81Gly|514/1918|243/1530|81/509||,A|synonymous_variant|LOW|ARSA|ENSG00000100299|transcript|ENST00000395619|protein_coding|3/9|c.243C>T|p.Gly81Gly|425/1824|243/1530|81/509||,A|5_prime_UTR_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000453344|protein_coding|2/8|c.-16C>T|||||16|,A|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000610191|processed_transcript||n.-1C>T|||||4062|,A|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000608497|nonsense_mediated_decay||n.-3C>T|||||1732|,A|non_coding_exon_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000551731|retained_intron|2/2|n.634C>T|||||| 22 51117002 . C T . . ANN=T|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|3/22|c.340-11C>T||||||,T|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|3/22|c.340-11C>T||||||,T|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|3/22|c.340-11C>T|||||| 22 51117137 . G A . . ANN=A|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|4/22|c.448+16G>A||||||,A|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|4/22|c.448+16G>A||||||,A|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|4/22|c.448+16G>A|||||| 22 51117159 . C A . . ANN=A|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|4/22|c.448+38C>A||||||,A|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|4/22|c.448+38C>A||||||,A|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|4/22|c.448+38C>A|||||| 22 51117175 . C T . . ANN=T|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|4/22|c.449-22C>T||||||,T|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|4/22|c.449-22C>T||||||,T|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|4/22|c.449-22C>T|||||| 22 51117219 . C T . . ANN=T|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|5/23|c.471C>T|p.Ala157Ala|471/7145|471/5244|157/1747||,T|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|5/23|c.471C>T|p.Ala157Ala|698/7394|471/5181|157/1726||,T|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|5/23|c.471C>T|p.Ala157Ala|471/7130|471/5229|157/1742|| 22 51117231 . C T . . ANN=T|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|5/23|c.483C>T|p.Asn161Asn|483/7145|483/5244|161/1747||,T|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|5/23|c.483C>T|p.Asn161Asn|710/7394|483/5181|161/1726||,T|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|5/23|c.483C>T|p.Asn161Asn|483/7130|483/5229|161/1742|| 22 51117369 . G A . . ANN=A|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|5/22|c.600+21G>A||||||,A|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|5/22|c.600+21G>A||||||,A|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|5/22|c.600+21G>A|||||| 22 51117521 . G T . . ANN=T|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|6/23|c.675G>T|p.Leu225Leu|675/7145|675/5244|225/1747||,T|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|6/23|c.675G>T|p.Leu225Leu|902/7394|675/5181|225/1726||,T|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|6/23|c.675G>T|p.Leu225Leu|675/7130|675/5229|225/1742|| 22 51117564 . C T . . ANN=T|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|6/23|c.718C>T|p.His240Tyr|718/7145|718/5244|240/1747||,T|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|6/23|c.718C>T|p.His240Tyr|945/7394|718/5181|240/1726||,T|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|6/23|c.718C>T|p.His240Tyr|718/7130|718/5229|240/1742|| 22 51117580 . T C . . ANN=C|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|6/23|c.734T>C|p.Ile245Thr|734/7145|734/5244|245/1747||,C|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|6/23|c.734T>C|p.Ile245Thr|961/7394|734/5181|245/1726||,C|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|6/23|c.734T>C|p.Ile245Thr|734/7130|734/5229|245/1742|| 22 51117660 . T G . . ANN=G|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|6/22|c.768+46T>G||||||,G|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|6/22|c.768+46T>G||||||,G|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|6/22|c.768+46T>G|||||| 22 51117713 . C G . . ANN=G|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|6/22|c.769-27C>G||||||,G|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|6/22|c.769-27C>G||||||,G|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|6/22|c.769-27C>G|||||| 22 51117865 . G A . . ANN=A|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|7/22|c.885+9G>A||||||,A|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|7/22|c.885+9G>A||||||,A|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|7/22|c.885+9G>A|||||| 22 51121760 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|7/22|c.886-8C>T||||||,T|splice_region_variant&intron_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|7/22|c.886-8C>T||||||,T|splice_region_variant&intron_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|7/22|c.886-8C>T|||||| 22 51121773 . C T . . ANN=T|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|8/23|c.891C>T|p.Ser297Ser|891/7145|891/5244|297/1747||,T|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|8/23|c.891C>T|p.Ser297Ser|1118/7394|891/5181|297/1726||,T|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|8/23|c.891C>T|p.Ser297Ser|891/7130|891/5229|297/1742|| 22 51121852 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|8/22|c.963+7C>T||||||,T|splice_region_variant&intron_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|8/22|c.963+7C>T||||||,T|splice_region_variant&intron_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|8/22|c.963+7C>T|||||| 22 51122989 . G A . . ANN=A|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|8/22|c.964-24G>A||||||,A|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|8/22|c.964-24G>A||||||,A|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|8/22|c.964-24G>A|||||| 22 51123008 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|8/22|c.964-5C>T||||||,T|splice_region_variant&intron_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|8/22|c.964-5C>T||||||,T|splice_region_variant&intron_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|8/22|c.964-5C>T|||||| 22 51123101 . G A . . ANN=A|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|9/22|c.1030+22G>A||||||,A|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|9/22|c.1030+22G>A||||||,A|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|9/22|c.1030+22G>A|||||| 22 51123122 . G A . . ANN=A|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|9/22|c.1030+43G>A||||||,A|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|9/22|c.1030+43G>A||||||,A|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|9/22|c.1030+43G>A|||||| 22 51133246 . G A . . ANN=A|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|10/23|c.1074G>A|p.Leu358Leu|1074/7145|1074/5244|358/1747||,A|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|10/23|c.1074G>A|p.Leu358Leu|1301/7394|1074/5181|358/1726||,A|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|10/23|c.1074G>A|p.Leu358Leu|1074/7130|1074/5229|358/1742||,A|upstream_gene_variant|MODIFIER|RNU6-409P|ENSG00000206841|transcript|ENST00000384114|snRNA||n.-1C>T|||||3455| 22 51133329 . C T . . ANN=T|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|10/23|c.1157C>T|p.Ala386Val|1157/7145|1157/5244|386/1747||,T|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|10/23|c.1157C>T|p.Ala386Val|1384/7394|1157/5181|386/1726||,T|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|10/23|c.1157C>T|p.Ala386Val|1157/7130|1157/5229|386/1742||,T|upstream_gene_variant|MODIFIER|RNU6-409P|ENSG00000206841|transcript|ENST00000384114|snRNA||n.-1G>A|||||3538| 22 51133417 . C T . . ANN=T|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|10/23|c.1245C>T|p.Ala415Ala|1245/7145|1245/5244|415/1747||,T|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|10/23|c.1245C>T|p.Ala415Ala|1472/7394|1245/5181|415/1726||,T|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|10/23|c.1245C>T|p.Ala415Ala|1245/7130|1245/5229|415/1742||,T|upstream_gene_variant|MODIFIER|RNU6-409P|ENSG00000206841|transcript|ENST00000384114|snRNA||n.-1G>A|||||3626| 22 51133518 . G A . . ANN=A|upstream_gene_variant|MODIFIER|RNU6-409P|ENSG00000206841|transcript|ENST00000384114|snRNA||n.-1C>T|||||3727|,A|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|10/22|c.1304+42G>A||||||,A|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|10/22|c.1304+42G>A||||||,A|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|10/22|c.1304+42G>A|||||| 22 51133524 . C T . . ANN=T|upstream_gene_variant|MODIFIER|RNU6-409P|ENSG00000206841|transcript|ENST00000384114|snRNA||n.-1G>A|||||3733|,T|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|10/22|c.1304+48C>T||||||,T|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|10/22|c.1304+48C>T||||||,T|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|10/22|c.1304+48C>T|||||| 22 51135990 . T G . . ANN=G|splice_acceptor_variant&intron_variant|HIGH|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|10/22|c.1305-2T>G||||||,G|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|12/23|c.1393T>G|p.Phe465Val|1393/7145|1393/5244|465/1747||,G|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|11/23|c.1348T>G|p.Phe450Val|1348/7130|1348/5229|450/1742||;LOF=(SHANK3|ENSG00000251322|3|0.33) 22 51135991 . T G . . ANN=G|splice_acceptor_variant&intron_variant|HIGH|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|10/22|c.1305-1T>G||||||,G|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|12/23|c.1394T>G|p.Phe465Cys|1394/7145|1394/5244|465/1747||,G|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|11/23|c.1349T>G|p.Phe450Cys|1349/7130|1349/5229|450/1742||;LOF=(SHANK3|ENSG00000251322|3|0.33) 22 51137093 . C T . . ANN=T|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|12/22|c.1547-25C>T||||||,T|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|11/22|c.1457-25C>T||||||,T|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|11/22|c.1502-25C>T|||||| 22 51137094 . G A . . ANN=A|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|12/22|c.1547-24G>A||||||,A|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|11/22|c.1457-24G>A||||||,A|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|11/22|c.1502-24G>A|||||| 22 51137096 . C T . . ANN=T|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|12/22|c.1547-22C>T||||||,T|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|11/22|c.1457-22C>T||||||,T|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|11/22|c.1502-22C>T|||||| 22 51137249 . T C . . ANN=C|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|13/22|c.1660+18T>C||||||,C|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|12/22|c.1570+18T>C||||||,C|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|12/22|c.1615+18T>C|||||| 22 51137253 . C G . . ANN=G|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|13/22|c.1660+22C>G||||||,G|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|12/22|c.1570+22C>G||||||,G|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|12/22|c.1615+22C>G|||||| 22 51142255 . C T . . ANN=T|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|13/22|c.1661-33C>T||||||,T|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|12/22|c.1571-33C>T||||||,T|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|12/22|c.1616-33C>T|||||| 22 51142280 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|13/22|c.1661-8C>T||||||,T|splice_region_variant&intron_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|12/22|c.1571-8C>T||||||,T|splice_region_variant&intron_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|12/22|c.1616-8C>T|||||| 22 51142381 . G A . . ANN=A|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|14/22|c.1736+18G>A||||||,A|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|13/22|c.1646+18G>A||||||,A|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|13/22|c.1691+18G>A|||||| 22 51142642 . C T . . ANN=T|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|15/23|c.1785C>T|p.His595His|1785/7145|1785/5244|595/1747||,T|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|14/23|c.1695C>T|p.His565His|1922/7394|1695/5181|565/1726||,T|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|14/23|c.1740C>T|p.His580His|1740/7130|1740/5229|580/1742|| 22 51142692 . T A . . ANN=A|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|15/22|c.1819+16T>A||||||,A|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|14/22|c.1729+16T>A||||||,A|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|14/22|c.1774+16T>A|||||| 22 51142703 . C T . . ANN=T|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|15/22|c.1819+27C>T||||||,T|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|14/22|c.1729+27C>T||||||,T|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|14/22|c.1774+27C>T|||||| 22 51143124 . C T . . ANN=T|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|15/22|c.1820-42C>T||||||,T|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|14/22|c.1730-42C>T||||||,T|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|14/22|c.1775-42C>T|||||| 22 51143197 . G A . . ANN=A|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|16/23|c.1851G>A|p.Thr617Thr|1851/7145|1851/5244|617/1747||,A|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|15/23|c.1761G>A|p.Thr587Thr|1988/7394|1761/5181|587/1726||,A|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|15/23|c.1806G>A|p.Thr602Thr|1806/7130|1806/5229|602/1742|| 22 51143226 . A G . . ANN=G|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|16/23|c.1880A>G|p.Glu627Gly|1880/7145|1880/5244|627/1747||,G|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|15/23|c.1790A>G|p.Glu597Gly|2017/7394|1790/5181|597/1726||,G|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|15/23|c.1835A>G|p.Glu612Gly|1835/7130|1835/5229|612/1742|| 22 51143287 . C T . . ANN=T|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|16/23|c.1941C>T|p.Ile647Ile|1941/7145|1941/5244|647/1747||,T|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|15/23|c.1851C>T|p.Ile617Ile|2078/7394|1851/5181|617/1726||,T|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|15/23|c.1896C>T|p.Ile632Ile|1896/7130|1896/5229|632/1742|| 22 51143308 . G A . . ANN=A|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|16/22|c.1944+18G>A||||||,A|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|15/22|c.1854+18G>A||||||,A|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|15/22|c.1899+18G>A|||||| 22 51143309 . G C . . ANN=C|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|16/22|c.1944+19G>C||||||,C|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|15/22|c.1854+19G>C||||||,C|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|15/22|c.1899+19G>C|||||| 22 51143351 . C T . . ANN=T|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|16/22|c.1945-41C>T||||||,T|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|15/22|c.1855-41C>T||||||,T|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|15/22|c.1900-41C>T|||||| 22 51143401 . G A . . ANN=A|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|17/23|c.1954G>A|p.Val652Met|1954/7145|1954/5244|652/1747||,A|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|16/23|c.1864G>A|p.Val622Met|2091/7394|1864/5181|622/1726||,A|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|16/23|c.1909G>A|p.Val637Met|1909/7130|1909/5229|637/1742|| 22 51143462 . G A . . ANN=A|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|17/23|c.2015G>A|p.Arg672His|2015/7145|2015/5244|672/1747||,A|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|16/23|c.1925G>A|p.Arg642His|2152/7394|1925/5181|642/1726||,A|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|16/23|c.1970G>A|p.Arg657His|1970/7130|1970/5229|657/1742|| 22 51143508 . C T . . ANN=T|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|17/23|c.2061C>T|p.Asp687Asp|2061/7145|2061/5244|687/1747||,T|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|16/23|c.1971C>T|p.Asp657Asp|2198/7394|1971/5181|657/1726||,T|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|16/23|c.2016C>T|p.Asp672Asp|2016/7130|2016/5229|672/1742|| 22 51143520 . C T . . ANN=T|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|17/23|c.2073C>T|p.Arg691Arg|2073/7145|2073/5244|691/1747||,T|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|16/23|c.1983C>T|p.Arg661Arg|2210/7394|1983/5181|661/1726||,T|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|16/23|c.2028C>T|p.Arg676Arg|2028/7130|2028/5229|676/1742|| 22 51144464 . T C . . ANN=C|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|17/22|c.2078-36T>C||||||,C|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|16/22|c.1988-36T>C||||||,C|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|16/22|c.2033-36T>C|||||| 22 51144541 . C T . . ANN=T|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|18/23|c.2119C>T|p.Leu707Leu|2119/7145|2119/5244|707/1747||,T|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|17/23|c.2029C>T|p.Leu677Leu|2256/7394|2029/5181|677/1726||,T|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|17/23|c.2074C>T|p.Leu692Leu|2074/7130|2074/5229|692/1742|| 22 51144589 . C T . . ANN=T|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|17/23|c.2122C>T|p.Arg708Trp|2122/7130|2122/5229|708/1742||,T|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|18/22|c.2158+9C>T||||||,T|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|17/22|c.2068+9C>T|||||| 22 51150038 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|18/22|c.2159-5C>T||||||,T|splice_region_variant&intron_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|17/22|c.2069-5C>T||||||,T|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|17/22|c.2127-3193C>T|||||| 22 51150075 . T C . . ANN=C|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|19/22|c.2182+9T>C||||||,C|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|18/22|c.2092+9T>C||||||,C|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|17/22|c.2127-3156T>C|||||| 22 51153355 . C T . . ANN=T|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|20/23|c.2193C>T|p.Asp731Asp|2193/7145|2193/5244|731/1747||,T|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|19/23|c.2103C>T|p.Asp701Asp|2330/7394|2103/5181|701/1726||,T|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|19/23|c.2151C>T|p.Asp717Asp|2151/7130|2151/5229|717/1742|| 22 51153371 . G A . . ANN=A|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|20/23|c.2209G>A|p.Ala737Thr|2209/7145|2209/5244|737/1747||,A|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|19/23|c.2119G>A|p.Ala707Thr|2346/7394|2119/5181|707/1726||,A|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|19/23|c.2167G>A|p.Ala723Thr|2167/7130|2167/5229|723/1742|| 22 51153463 . C T . . ANN=T|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|20/23|c.2301C>T|p.Pro767Pro|2301/7145|2301/5244|767/1747||,T|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|19/23|c.2211C>T|p.Pro737Pro|2438/7394|2211/5181|737/1726||,T|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|19/23|c.2259C>T|p.Pro753Pro|2259/7130|2259/5229|753/1742|| 22 51153501 . G A . . ANN=A|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|20/22|c.2313+26G>A||||||,A|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|19/22|c.2223+26G>A||||||,A|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|19/22|c.2271+26G>A|||||| 22 51153509 . G A . . ANN=A|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|20/22|c.2313+34G>A||||||,A|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|19/22|c.2223+34G>A||||||,A|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|19/22|c.2271+34G>A|||||| 22 51154048 . G A . . ANN=A|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|20/22|c.2314-49G>A||||||,A|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|19/22|c.2224-49G>A||||||,A|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|19/22|c.2272-49G>A|||||| 22 51154141 . G A . . ANN=A|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|21/23|c.2358G>A|p.Pro786Pro|2358/7145|2358/5244|786/1747||,A|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|20/23|c.2268G>A|p.Pro756Pro|2495/7394|2268/5181|756/1726||,A|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|20/23|c.2316G>A|p.Pro772Pro|2316/7130|2316/5229|772/1742|| 22 51159258 . C T . . ANN=T|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|22/23|c.3045C>T|p.Tyr1015Tyr|3045/7145|3045/5244|1015/1747||,T|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|21/23|c.2955C>T|p.Tyr985Tyr|3182/7394|2955/5181|985/1726||,T|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|21/23|c.3003C>T|p.Tyr1001Tyr|3003/7130|3003/5229|1001/1742|| 22 51159408 . C T . . ANN=T|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|22/23|c.3195C>T|p.Pro1065Pro|3195/7145|3195/5244|1065/1747||,T|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|21/23|c.3105C>T|p.Pro1035Pro|3332/7394|3105/5181|1035/1726||,T|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|21/23|c.3153C>T|p.Pro1051Pro|3153/7130|3153/5229|1051/1742|| 22 51159417 . C T . . ANN=T|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|22/23|c.3204C>T|p.Ser1068Ser|3204/7145|3204/5244|1068/1747||,T|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|21/23|c.3114C>T|p.Ser1038Ser|3341/7394|3114/5181|1038/1726||,T|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|21/23|c.3162C>T|p.Ser1054Ser|3162/7130|3162/5229|1054/1742|| 22 51159624 . C T . . ANN=T|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|22/23|c.3411C>T|p.Ser1137Ser|3411/7145|3411/5244|1137/1747||,T|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|21/23|c.3321C>T|p.Ser1107Ser|3548/7394|3321/5181|1107/1726||,T|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|21/23|c.3369C>T|p.Ser1123Ser|3369/7130|3369/5229|1123/1742|| 22 51159652 . G C . . ANN=C|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|22/23|c.3439G>C|p.Val1147Leu|3439/7145|3439/5244|1147/1747||,C|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|21/23|c.3349G>C|p.Val1117Leu|3576/7394|3349/5181|1117/1726||,C|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|21/23|c.3397G>C|p.Val1133Leu|3397/7130|3397/5229|1133/1742|| 22 51159667 . G A . . ANN=A|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|22/23|c.3454G>A|p.Ala1152Thr|3454/7145|3454/5244|1152/1747||,A|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|21/23|c.3364G>A|p.Ala1122Thr|3591/7394|3364/5181|1122/1726||,A|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|21/23|c.3412G>A|p.Ala1138Thr|3412/7130|3412/5229|1138/1742|| 22 51159778 . G A . . ANN=A|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|22/23|c.3565G>A|p.Ala1189Thr|3565/7145|3565/5244|1189/1747||,A|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|21/23|c.3475G>A|p.Ala1159Thr|3702/7394|3475/5181|1159/1726||,A|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|21/23|c.3523G>A|p.Ala1175Thr|3523/7130|3523/5229|1175/1742|| 22 51159798 . G A . . ANN=A|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|22/23|c.3585G>A|p.Lys1195Lys|3585/7145|3585/5244|1195/1747||,A|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|21/23|c.3495G>A|p.Lys1165Lys|3722/7394|3495/5181|1165/1726||,A|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|21/23|c.3543G>A|p.Lys1181Lys|3543/7130|3543/5229|1181/1742|| 22 51159802 . C A . . ANN=A|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|22/23|c.3589C>A|p.Pro1197Thr|3589/7145|3589/5244|1197/1747||,A|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|21/23|c.3499C>A|p.Pro1167Thr|3726/7394|3499/5181|1167/1726||,A|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|21/23|c.3547C>A|p.Pro1183Thr|3547/7130|3547/5229|1183/1742|| 22 51160536 . G A . . ANN=A|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|22/23|c.4323G>A|p.Gly1441Gly|4323/7145|4323/5244|1441/1747||,A|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|21/23|c.4233G>A|p.Gly1411Gly|4460/7394|4233/5181|1411/1726||,A|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|21/23|c.4281G>A|p.Gly1427Gly|4281/7130|4281/5229|1427/1742|| 22 51160539 . G A . . ANN=A|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|22/23|c.4326G>A|p.Pro1442Pro|4326/7145|4326/5244|1442/1747||,A|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|21/23|c.4236G>A|p.Pro1412Pro|4463/7394|4236/5181|1412/1726||,A|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|21/23|c.4284G>A|p.Pro1428Pro|4284/7130|4284/5229|1428/1742|| 22 51160707 . G A . . ANN=A|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|22/23|c.4494G>A|p.Gly1498Gly|4494/7145|4494/5244|1498/1747||,A|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|21/23|c.4404G>A|p.Gly1468Gly|4631/7394|4404/5181|1468/1726||,A|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|21/23|c.4452G>A|p.Gly1484Gly|4452/7130|4452/5229|1484/1742|| 22 51160839 . C T . . ANN=T|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|22/23|c.4626C>T|p.Ala1542Ala|4626/7145|4626/5244|1542/1747||,T|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|21/23|c.4536C>T|p.Ala1512Ala|4763/7394|4536/5181|1512/1726||,T|synonymous_variant|LOW|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|21/23|c.4584C>T|p.Ala1528Ala|4584/7130|4584/5229|1528/1742|| 22 51160876 . C T . . ANN=T|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|22/22|c.4652+11C>T||||||,T|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|21/22|c.4562+11C>T||||||,T|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|21/22|c.4610+11C>T|||||| 22 51160877 . G A . . ANN=A|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|22/22|c.4652+12G>A||||||,A|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|21/22|c.4562+12G>A||||||,A|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|21/22|c.4610+12G>A|||||| 22 51176616 . G A . . ANN=A|upstream_gene_variant|MODIFIER|AC000036.4|ENSG00000225929|transcript|ENST00000449652|antisense||n.-1C>T|||||49|,A|upstream_gene_variant|MODIFIER|ACR|ENSG00000100312|transcript|ENST00000216139|protein_coding||c.-41G>A|||||8|,A|upstream_gene_variant|MODIFIER|ACR|ENSG00000100312|transcript|ENST00000533930|retained_intron||n.-1G>A|||||8|,A|upstream_gene_variant|MODIFIER|ACR|ENSG00000100312|transcript|ENST00000529621|protein_coding||c.-7G>A|||||42|,A|downstream_gene_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding||c.*5244G>A|||||4975|,A|downstream_gene_variant|MODIFIER|AC002056.5|ENSG00000254499|transcript|ENST00000532913|antisense||n.*284C>T|||||2405|,A|downstream_gene_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding||c.*5408G>A|||||4890|,A|downstream_gene_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding||c.*5229G>A|||||4975|,A|intergenic_region|MODIFIER|AC000036.4-ACR|ENSG00000225929-ENSG00000100312|intergenic_region|ENSG00000225929-ENSG00000100312||||||||| 22 51176660 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|ACR|ENSG00000100312|transcript|ENST00000216139|protein_coding|1/5|c.-4G>A|||||4|,A|5_prime_UTR_variant|MODIFIER|ACR|ENSG00000100312|transcript|ENST00000529621|protein_coding|1/4|c.-4G>A|||||4|,A|upstream_gene_variant|MODIFIER|AC000036.4|ENSG00000225929|transcript|ENST00000449652|antisense||n.-1C>T|||||93|,A|downstream_gene_variant|MODIFIER|AC002056.5|ENSG00000254499|transcript|ENST00000532913|antisense||n.*284C>T|||||2361|,A|downstream_gene_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding||c.*5408G>A|||||4934|,A|non_coding_exon_variant|MODIFIER|ACR|ENSG00000100312|transcript|ENST00000533930|retained_intron|1/3|n.37G>A|||||| 22 51176664 . A G . . ANN=G|start_lost|HIGH|ACR|ENSG00000100312|transcript|ENST00000216139|protein_coding|1/5|c.1A>G|p.Met1?|41/1433|1/1266|1/421||,G|start_lost|HIGH|ACR|ENSG00000100312|transcript|ENST00000529621|protein_coding|1/4|c.1A>G|p.Met1?|7/708|1/639|1/212||,G|sequence_feature|LOW|ACR|ENSG00000100312|signal_peptide|ENST00000216139|protein_coding|1/5|c.1A>G||||||,G|upstream_gene_variant|MODIFIER|AC000036.4|ENSG00000225929|transcript|ENST00000449652|antisense||n.-1T>C|||||97|,G|downstream_gene_variant|MODIFIER|AC002056.5|ENSG00000254499|transcript|ENST00000532913|antisense||n.*284T>C|||||2357|,G|downstream_gene_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding||c.*5408A>G|||||4938|,G|non_coding_exon_variant|MODIFIER|ACR|ENSG00000100312|transcript|ENST00000533930|retained_intron|1/3|n.41A>G||||||;LOF=(ACR|ENSG00000100312|4|0.50) 22 51176734 . C T . . ANN=T|missense_variant|MODERATE|ACR|ENSG00000100312|transcript|ENST00000216139|protein_coding|1/5|c.71C>T|p.Thr24Met|111/1433|71/1266|24/421||,T|missense_variant|MODERATE|ACR|ENSG00000100312|transcript|ENST00000529621|protein_coding|1/4|c.71C>T|p.Thr24Met|77/708|71/639|24/212||,T|upstream_gene_variant|MODIFIER|AC000036.4|ENSG00000225929|transcript|ENST00000449652|antisense||n.-1G>A|||||167|,T|downstream_gene_variant|MODIFIER|AC002056.5|ENSG00000254499|transcript|ENST00000532913|antisense||n.*284G>A|||||2287|,T|non_coding_exon_variant|MODIFIER|ACR|ENSG00000100312|transcript|ENST00000533930|retained_intron|1/3|n.111C>T|||||| 22 51176739 . G GA . . ANN=A|splice_donor_variant&intron_variant|HIGH|ACR|ENSG00000100312|transcript|ENST00000216139|protein_coding|1/4|c.77dupA||||||INFO_REALIGN_3_PRIME,A|splice_donor_variant&intron_variant|HIGH|ACR|ENSG00000100312|transcript|ENST00000533930|retained_intron|1/2|n.117dupA||||||INFO_REALIGN_3_PRIME,A|splice_donor_variant&intron_variant|HIGH|ACR|ENSG00000100312|transcript|ENST00000529621|protein_coding|1/3|c.77dupA||||||INFO_REALIGN_3_PRIME,A|sequence_feature|LOW|ACR|ENSG00000100312|disulfide_bond:Interchain__between_light_and_heavy_chains_|ENST00000216139|protein_coding|1/5|c.76_77insA||||||,A|sequence_feature|LOW|ACR|ENSG00000100312|disulfide_bond:Interchain__between_light_and_heavy_chains_|ENST00000216139|protein_coding|3/5|c.76_77insA||||||,A|sequence_feature|LOW|ACR|ENSG00000100312|disulfide_bond:Interchain__between_light_and_heavy_chains_|ENST00000216139|protein_coding|2/5|c.76_77insA||||||,A|upstream_gene_variant|MODIFIER|AC000036.4|ENSG00000225929|transcript|ENST00000449652|antisense||n.-1dupT|||||173|,A|downstream_gene_variant|MODIFIER|AC002056.5|ENSG00000254499|transcript|ENST00000532913|antisense||n.*284dupT|||||2281|;LOF=(ACR|ENSG00000100312|4|0.50) 22 51176775 . T C . . ANN=C|sequence_feature|LOW|ACR|ENSG00000100312|disulfide_bond:Interchain__between_light_and_heavy_chains_|ENST00000216139|protein_coding|1/5|c.77+35T>C||||||,C|sequence_feature|LOW|ACR|ENSG00000100312|disulfide_bond:Interchain__between_light_and_heavy_chains_|ENST00000216139|protein_coding|3/5|c.77+35T>C||||||,C|sequence_feature|LOW|ACR|ENSG00000100312|disulfide_bond:Interchain__between_light_and_heavy_chains_|ENST00000216139|protein_coding|2/5|c.77+35T>C||||||,C|upstream_gene_variant|MODIFIER|AC000036.4|ENSG00000225929|transcript|ENST00000449652|antisense||n.-1A>G|||||208|,C|downstream_gene_variant|MODIFIER|AC002056.5|ENSG00000254499|transcript|ENST00000532913|antisense||n.*284A>G|||||2246|,C|intron_variant|MODIFIER|ACR|ENSG00000100312|transcript|ENST00000216139|protein_coding|1/4|c.77+35T>C||||||,C|intron_variant|MODIFIER|ACR|ENSG00000100312|transcript|ENST00000533930|retained_intron|1/2|n.117+35T>C||||||,C|intron_variant|MODIFIER|ACR|ENSG00000100312|transcript|ENST00000529621|protein_coding|1/3|c.77+35T>C|||||| 22 51177751 . G A . . ANN=A|missense_variant|MODERATE|ACR|ENSG00000100312|transcript|ENST00000216139|protein_coding|2/5|c.130G>A|p.Val44Ile|170/1433|130/1266|44/421||,A|missense_variant|MODERATE|ACR|ENSG00000100312|transcript|ENST00000529621|protein_coding|2/4|c.130G>A|p.Val44Ile|136/708|130/639|44/212||,A|sequence_feature|LOW|ACR|ENSG00000100312|disulfide_bond:Interchain__between_light_and_heavy_chains_|ENST00000216139|protein_coding|1/5|c.130G>A||||||,A|sequence_feature|LOW|ACR|ENSG00000100312|disulfide_bond:Interchain__between_light_and_heavy_chains_|ENST00000216139|protein_coding|3/5|c.130G>A||||||,A|sequence_feature|LOW|ACR|ENSG00000100312|disulfide_bond:Interchain__between_light_and_heavy_chains_|ENST00000216139|protein_coding|2/5|c.130G>A||||||,A|sequence_feature|LOW|ACR|ENSG00000100312|domain:Peptidase_S1|ENST00000216139|protein_coding|3/5|c.130G>A||||||,A|sequence_feature|LOW|ACR|ENSG00000100312|domain:Peptidase_S1|ENST00000216139|protein_coding|5/5|c.130G>A||||||,A|sequence_feature|LOW|ACR|ENSG00000100312|domain:Peptidase_S1|ENST00000216139|protein_coding|2/5|c.130G>A||||||,A|sequence_feature|LOW|ACR|ENSG00000100312|domain:Peptidase_S1|ENST00000216139|protein_coding|4/5|c.130G>A||||||,A|upstream_gene_variant|MODIFIER|AC000036.4|ENSG00000225929|transcript|ENST00000449652|antisense||n.-1C>T|||||1184|,A|upstream_gene_variant|MODIFIER|ACR|ENSG00000100312|transcript|ENST00000527761|processed_transcript||n.-1G>A|||||4821|,A|downstream_gene_variant|MODIFIER|AC002056.5|ENSG00000254499|transcript|ENST00000532913|antisense||n.*284C>T|||||1270|,A|non_coding_exon_variant|MODIFIER|ACR|ENSG00000100312|transcript|ENST00000533930|retained_intron|2/3|n.170G>A|||||| 22 51177756 . C T . . ANN=T|synonymous_variant|LOW|ACR|ENSG00000100312|transcript|ENST00000216139|protein_coding|2/5|c.135C>T|p.Gly45Gly|175/1433|135/1266|45/421||,T|synonymous_variant|LOW|ACR|ENSG00000100312|transcript|ENST00000529621|protein_coding|2/4|c.135C>T|p.Gly45Gly|141/708|135/639|45/212||,T|sequence_feature|LOW|ACR|ENSG00000100312|disulfide_bond:Interchain__between_light_and_heavy_chains_|ENST00000216139|protein_coding|1/5|c.135C>T||||||,T|sequence_feature|LOW|ACR|ENSG00000100312|disulfide_bond:Interchain__between_light_and_heavy_chains_|ENST00000216139|protein_coding|3/5|c.135C>T||||||,T|sequence_feature|LOW|ACR|ENSG00000100312|disulfide_bond:Interchain__between_light_and_heavy_chains_|ENST00000216139|protein_coding|2/5|c.135C>T||||||,T|sequence_feature|LOW|ACR|ENSG00000100312|domain:Peptidase_S1|ENST00000216139|protein_coding|3/5|c.135C>T||||||,T|sequence_feature|LOW|ACR|ENSG00000100312|domain:Peptidase_S1|ENST00000216139|protein_coding|5/5|c.135C>T||||||,T|sequence_feature|LOW|ACR|ENSG00000100312|domain:Peptidase_S1|ENST00000216139|protein_coding|2/5|c.135C>T||||||,T|sequence_feature|LOW|ACR|ENSG00000100312|domain:Peptidase_S1|ENST00000216139|protein_coding|4/5|c.135C>T||||||,T|upstream_gene_variant|MODIFIER|AC000036.4|ENSG00000225929|transcript|ENST00000449652|antisense||n.-1G>A|||||1189|,T|upstream_gene_variant|MODIFIER|ACR|ENSG00000100312|transcript|ENST00000527761|processed_transcript||n.-1C>T|||||4816|,T|downstream_gene_variant|MODIFIER|AC002056.5|ENSG00000254499|transcript|ENST00000532913|antisense||n.*284G>A|||||1265|,T|non_coding_exon_variant|MODIFIER|ACR|ENSG00000100312|transcript|ENST00000533930|retained_intron|2/3|n.175C>T|||||| 22 51177812 . C T . . ANN=T|missense_variant|MODERATE|ACR|ENSG00000100312|transcript|ENST00000216139|protein_coding|2/5|c.191C>T|p.Thr64Met|231/1433|191/1266|64/421||,T|missense_variant|MODERATE|ACR|ENSG00000100312|transcript|ENST00000529621|protein_coding|2/4|c.191C>T|p.Thr64Met|197/708|191/639|64/212||,T|sequence_feature|LOW|ACR|ENSG00000100312|disulfide_bond:Interchain__between_light_and_heavy_chains_|ENST00000216139|protein_coding|1/5|c.191C>T||||||,T|sequence_feature|LOW|ACR|ENSG00000100312|disulfide_bond:Interchain__between_light_and_heavy_chains_|ENST00000216139|protein_coding|3/5|c.191C>T||||||,T|sequence_feature|LOW|ACR|ENSG00000100312|disulfide_bond:Interchain__between_light_and_heavy_chains_|ENST00000216139|protein_coding|2/5|c.191C>T||||||,T|sequence_feature|LOW|ACR|ENSG00000100312|domain:Peptidase_S1|ENST00000216139|protein_coding|3/5|c.191C>T||||||,T|sequence_feature|LOW|ACR|ENSG00000100312|domain:Peptidase_S1|ENST00000216139|protein_coding|5/5|c.191C>T||||||,T|sequence_feature|LOW|ACR|ENSG00000100312|domain:Peptidase_S1|ENST00000216139|protein_coding|2/5|c.191C>T||||||,T|sequence_feature|LOW|ACR|ENSG00000100312|domain:Peptidase_S1|ENST00000216139|protein_coding|4/5|c.191C>T||||||,T|upstream_gene_variant|MODIFIER|AC000036.4|ENSG00000225929|transcript|ENST00000449652|antisense||n.-1G>A|||||1245|,T|upstream_gene_variant|MODIFIER|ACR|ENSG00000100312|transcript|ENST00000527761|processed_transcript||n.-1C>T|||||4760|,T|downstream_gene_variant|MODIFIER|AC002056.5|ENSG00000254499|transcript|ENST00000532913|antisense||n.*284G>A|||||1209|,T|non_coding_exon_variant|MODIFIER|ACR|ENSG00000100312|transcript|ENST00000533930|retained_intron|2/3|n.231C>T|||||| 22 51177864 . A T . . ANN=T|synonymous_variant|LOW|ACR|ENSG00000100312|transcript|ENST00000216139|protein_coding|2/5|c.243A>T|p.Arg81Arg|283/1433|243/1266|81/421||,T|synonymous_variant|LOW|ACR|ENSG00000100312|transcript|ENST00000529621|protein_coding|2/4|c.243A>T|p.Arg81Arg|249/708|243/639|81/212||,T|sequence_feature|LOW|ACR|ENSG00000100312|disulfide_bond:Interchain__between_light_and_heavy_chains_|ENST00000216139|protein_coding|1/5|c.243A>T||||||,T|sequence_feature|LOW|ACR|ENSG00000100312|disulfide_bond:Interchain__between_light_and_heavy_chains_|ENST00000216139|protein_coding|3/5|c.243A>T||||||,T|sequence_feature|LOW|ACR|ENSG00000100312|disulfide_bond:Interchain__between_light_and_heavy_chains_|ENST00000216139|protein_coding|2/5|c.243A>T||||||,T|sequence_feature|LOW|ACR|ENSG00000100312|domain:Peptidase_S1|ENST00000216139|protein_coding|3/5|c.243A>T||||||,T|sequence_feature|LOW|ACR|ENSG00000100312|domain:Peptidase_S1|ENST00000216139|protein_coding|5/5|c.243A>T||||||,T|sequence_feature|LOW|ACR|ENSG00000100312|domain:Peptidase_S1|ENST00000216139|protein_coding|2/5|c.243A>T||||||,T|sequence_feature|LOW|ACR|ENSG00000100312|domain:Peptidase_S1|ENST00000216139|protein_coding|4/5|c.243A>T||||||,T|sequence_feature|LOW|ACR|ENSG00000100312|disulfide_bond|ENST00000216139|protein_coding|2/5|c.243A>T||||||,T|upstream_gene_variant|MODIFIER|AC000036.4|ENSG00000225929|transcript|ENST00000449652|antisense||n.-1T>A|||||1297|,T|upstream_gene_variant|MODIFIER|ACR|ENSG00000100312|transcript|ENST00000527761|processed_transcript||n.-1A>T|||||4708|,T|downstream_gene_variant|MODIFIER|AC002056.5|ENSG00000254499|transcript|ENST00000532913|antisense||n.*284T>A|||||1157|,T|non_coding_exon_variant|MODIFIER|ACR|ENSG00000100312|transcript|ENST00000533930|retained_intron|2/3|n.283A>T|||||| 22 51177891 . C T . . ANN=T|synonymous_variant|LOW|ACR|ENSG00000100312|transcript|ENST00000216139|protein_coding|2/5|c.270C>T|p.Phe90Phe|310/1433|270/1266|90/421||,T|synonymous_variant|LOW|ACR|ENSG00000100312|transcript|ENST00000529621|protein_coding|2/4|c.270C>T|p.Phe90Phe|276/708|270/639|90/212||,T|sequence_feature|LOW|ACR|ENSG00000100312|disulfide_bond:Interchain__between_light_and_heavy_chains_|ENST00000216139|protein_coding|1/5|c.270C>T||||||,T|sequence_feature|LOW|ACR|ENSG00000100312|disulfide_bond:Interchain__between_light_and_heavy_chains_|ENST00000216139|protein_coding|3/5|c.270C>T||||||,T|sequence_feature|LOW|ACR|ENSG00000100312|disulfide_bond:Interchain__between_light_and_heavy_chains_|ENST00000216139|protein_coding|2/5|c.270C>T||||||,T|sequence_feature|LOW|ACR|ENSG00000100312|domain:Peptidase_S1|ENST00000216139|protein_coding|3/5|c.270C>T||||||,T|sequence_feature|LOW|ACR|ENSG00000100312|domain:Peptidase_S1|ENST00000216139|protein_coding|5/5|c.270C>T||||||,T|sequence_feature|LOW|ACR|ENSG00000100312|domain:Peptidase_S1|ENST00000216139|protein_coding|2/5|c.270C>T||||||,T|sequence_feature|LOW|ACR|ENSG00000100312|domain:Peptidase_S1|ENST00000216139|protein_coding|4/5|c.270C>T||||||,T|upstream_gene_variant|MODIFIER|AC000036.4|ENSG00000225929|transcript|ENST00000449652|antisense||n.-1G>A|||||1324|,T|upstream_gene_variant|MODIFIER|ACR|ENSG00000100312|transcript|ENST00000527761|processed_transcript||n.-1C>T|||||4681|,T|downstream_gene_variant|MODIFIER|AC002056.5|ENSG00000254499|transcript|ENST00000532913|antisense||n.*284G>A|||||1130|,T|non_coding_exon_variant|MODIFIER|ACR|ENSG00000100312|transcript|ENST00000533930|retained_intron|2/3|n.310C>T|||||| 22 51177928 . G A . . ANN=A|sequence_feature|LOW|ACR|ENSG00000100312|disulfide_bond:Interchain__between_light_and_heavy_chains_|ENST00000216139|protein_coding|1/5|c.281+26G>A||||||,A|sequence_feature|LOW|ACR|ENSG00000100312|disulfide_bond:Interchain__between_light_and_heavy_chains_|ENST00000216139|protein_coding|3/5|c.281+26G>A||||||,A|sequence_feature|LOW|ACR|ENSG00000100312|disulfide_bond:Interchain__between_light_and_heavy_chains_|ENST00000216139|protein_coding|2/5|c.281+26G>A||||||,A|sequence_feature|LOW|ACR|ENSG00000100312|domain:Peptidase_S1|ENST00000216139|protein_coding|3/5|c.281+26G>A||||||,A|sequence_feature|LOW|ACR|ENSG00000100312|domain:Peptidase_S1|ENST00000216139|protein_coding|5/5|c.281+26G>A||||||,A|sequence_feature|LOW|ACR|ENSG00000100312|domain:Peptidase_S1|ENST00000216139|protein_coding|2/5|c.281+26G>A||||||,A|sequence_feature|LOW|ACR|ENSG00000100312|domain:Peptidase_S1|ENST00000216139|protein_coding|4/5|c.281+26G>A||||||,A|upstream_gene_variant|MODIFIER|AC000036.4|ENSG00000225929|transcript|ENST00000449652|antisense||n.-1C>T|||||1361|,A|upstream_gene_variant|MODIFIER|ACR|ENSG00000100312|transcript|ENST00000527761|processed_transcript||n.-1G>A|||||4644|,A|downstream_gene_variant|MODIFIER|AC002056.5|ENSG00000254499|transcript|ENST00000532913|antisense||n.*284C>T|||||1093|,A|intron_variant|MODIFIER|ACR|ENSG00000100312|transcript|ENST00000216139|protein_coding|2/4|c.281+26G>A||||||,A|intron_variant|MODIFIER|ACR|ENSG00000100312|transcript|ENST00000533930|retained_intron|2/2|n.321+26G>A||||||,A|intron_variant|MODIFIER|ACR|ENSG00000100312|transcript|ENST00000529621|protein_coding|2/3|c.281+26G>A|||||| 22 51178077 . C G . . ANN=G|sequence_feature|LOW|ACR|ENSG00000100312|disulfide_bond:Interchain__between_light_and_heavy_chains_|ENST00000216139|protein_coding|1/5|c.282-45C>G||||||,G|sequence_feature|LOW|ACR|ENSG00000100312|disulfide_bond:Interchain__between_light_and_heavy_chains_|ENST00000216139|protein_coding|3/5|c.282-45C>G||||||,G|sequence_feature|LOW|ACR|ENSG00000100312|disulfide_bond:Interchain__between_light_and_heavy_chains_|ENST00000216139|protein_coding|2/5|c.282-45C>G||||||,G|sequence_feature|LOW|ACR|ENSG00000100312|domain:Peptidase_S1|ENST00000216139|protein_coding|3/5|c.282-45C>G||||||,G|sequence_feature|LOW|ACR|ENSG00000100312|domain:Peptidase_S1|ENST00000216139|protein_coding|5/5|c.282-45C>G||||||,G|sequence_feature|LOW|ACR|ENSG00000100312|domain:Peptidase_S1|ENST00000216139|protein_coding|2/5|c.282-45C>G||||||,G|sequence_feature|LOW|ACR|ENSG00000100312|domain:Peptidase_S1|ENST00000216139|protein_coding|4/5|c.282-45C>G||||||,G|upstream_gene_variant|MODIFIER|AC000036.4|ENSG00000225929|transcript|ENST00000449652|antisense||n.-1G>C|||||1510|,G|upstream_gene_variant|MODIFIER|ACR|ENSG00000100312|transcript|ENST00000527761|processed_transcript||n.-1C>G|||||4495|,G|downstream_gene_variant|MODIFIER|AC002056.5|ENSG00000254499|transcript|ENST00000532913|antisense||n.*284G>C|||||944|,G|intron_variant|MODIFIER|ACR|ENSG00000100312|transcript|ENST00000216139|protein_coding|2/4|c.282-45C>G||||||,G|intron_variant|MODIFIER|ACR|ENSG00000100312|transcript|ENST00000533930|retained_intron|2/2|n.322-45C>G||||||,G|intron_variant|MODIFIER|ACR|ENSG00000100312|transcript|ENST00000529621|protein_coding|2/3|c.282-45C>G|||||| 22 51178090 . G A . . ANN=A|sequence_feature|LOW|ACR|ENSG00000100312|disulfide_bond:Interchain__between_light_and_heavy_chains_|ENST00000216139|protein_coding|1/5|c.282-32G>A||||||,A|sequence_feature|LOW|ACR|ENSG00000100312|disulfide_bond:Interchain__between_light_and_heavy_chains_|ENST00000216139|protein_coding|3/5|c.282-32G>A||||||,A|sequence_feature|LOW|ACR|ENSG00000100312|disulfide_bond:Interchain__between_light_and_heavy_chains_|ENST00000216139|protein_coding|2/5|c.282-32G>A||||||,A|sequence_feature|LOW|ACR|ENSG00000100312|domain:Peptidase_S1|ENST00000216139|protein_coding|3/5|c.282-32G>A||||||,A|sequence_feature|LOW|ACR|ENSG00000100312|domain:Peptidase_S1|ENST00000216139|protein_coding|5/5|c.282-32G>A||||||,A|sequence_feature|LOW|ACR|ENSG00000100312|domain:Peptidase_S1|ENST00000216139|protein_coding|2/5|c.282-32G>A||||||,A|sequence_feature|LOW|ACR|ENSG00000100312|domain:Peptidase_S1|ENST00000216139|protein_coding|4/5|c.282-32G>A||||||,A|upstream_gene_variant|MODIFIER|AC000036.4|ENSG00000225929|transcript|ENST00000449652|antisense||n.-1C>T|||||1523|,A|upstream_gene_variant|MODIFIER|ACR|ENSG00000100312|transcript|ENST00000527761|processed_transcript||n.-1G>A|||||4482|,A|downstream_gene_variant|MODIFIER|AC002056.5|ENSG00000254499|transcript|ENST00000532913|antisense||n.*284C>T|||||931|,A|intron_variant|MODIFIER|ACR|ENSG00000100312|transcript|ENST00000216139|protein_coding|2/4|c.282-32G>A||||||,A|intron_variant|MODIFIER|ACR|ENSG00000100312|transcript|ENST00000533930|retained_intron|2/2|n.322-32G>A||||||,A|intron_variant|MODIFIER|ACR|ENSG00000100312|transcript|ENST00000529621|protein_coding|2/3|c.282-32G>A|||||| 22 51178224 . C A . . ANN=A|synonymous_variant|LOW|ACR|ENSG00000100312|transcript|ENST00000216139|protein_coding|3/5|c.384C>A|p.Ile128Ile|424/1433|384/1266|128/421||,A|synonymous_variant|LOW|ACR|ENSG00000100312|transcript|ENST00000529621|protein_coding|3/4|c.384C>A|p.Ile128Ile|390/708|384/639|128/212||,A|sequence_feature|LOW|ACR|ENSG00000100312|disulfide_bond:Interchain__between_light_and_heavy_chains_|ENST00000216139|protein_coding|1/5|c.384C>A||||||,A|sequence_feature|LOW|ACR|ENSG00000100312|disulfide_bond:Interchain__between_light_and_heavy_chains_|ENST00000216139|protein_coding|3/5|c.384C>A||||||,A|sequence_feature|LOW|ACR|ENSG00000100312|disulfide_bond:Interchain__between_light_and_heavy_chains_|ENST00000216139|protein_coding|2/5|c.384C>A||||||,A|sequence_feature|LOW|ACR|ENSG00000100312|domain:Peptidase_S1|ENST00000216139|protein_coding|3/5|c.384C>A||||||,A|sequence_feature|LOW|ACR|ENSG00000100312|domain:Peptidase_S1|ENST00000216139|protein_coding|5/5|c.384C>A||||||,A|sequence_feature|LOW|ACR|ENSG00000100312|domain:Peptidase_S1|ENST00000216139|protein_coding|2/5|c.384C>A||||||,A|sequence_feature|LOW|ACR|ENSG00000100312|domain:Peptidase_S1|ENST00000216139|protein_coding|4/5|c.384C>A||||||,A|upstream_gene_variant|MODIFIER|AC000036.4|ENSG00000225929|transcript|ENST00000449652|antisense||n.-1G>T|||||1657|,A|upstream_gene_variant|MODIFIER|ACR|ENSG00000100312|transcript|ENST00000527761|processed_transcript||n.-1C>A|||||4348|,A|downstream_gene_variant|MODIFIER|AC002056.5|ENSG00000254499|transcript|ENST00000532913|antisense||n.*284G>T|||||797|,A|non_coding_exon_variant|MODIFIER|ACR|ENSG00000100312|transcript|ENST00000533930|retained_intron|3/3|n.424C>A|||||| 22 51178419 . C T . . ANN=T|sequence_feature|LOW|ACR|ENSG00000100312|domain:Peptidase_S1|ENST00000216139|protein_coding|3/5|c.565+14C>T||||||,T|sequence_feature|LOW|ACR|ENSG00000100312|domain:Peptidase_S1|ENST00000216139|protein_coding|5/5|c.565+14C>T||||||,T|sequence_feature|LOW|ACR|ENSG00000100312|domain:Peptidase_S1|ENST00000216139|protein_coding|2/5|c.565+14C>T||||||,T|sequence_feature|LOW|ACR|ENSG00000100312|domain:Peptidase_S1|ENST00000216139|protein_coding|4/5|c.565+14C>T||||||,T|sequence_feature|LOW|ACR|ENSG00000100312|disulfide_bond|ENST00000216139|protein_coding|3/5|c.565+14C>T||||||,T|sequence_feature|LOW|ACR|ENSG00000100312|disulfide_bond|ENST00000216139|protein_coding|5/5|c.565+14C>T||||||,T|sequence_feature|LOW|ACR|ENSG00000100312|disulfide_bond|ENST00000216139|protein_coding|4/5|c.565+14C>T||||||,T|upstream_gene_variant|MODIFIER|AC000036.4|ENSG00000225929|transcript|ENST00000449652|antisense||n.-1G>A|||||1852|,T|upstream_gene_variant|MODIFIER|ACR|ENSG00000100312|transcript|ENST00000527761|processed_transcript||n.-1C>T|||||4153|,T|downstream_gene_variant|MODIFIER|AC002056.5|ENSG00000254499|transcript|ENST00000532913|antisense||n.*284G>A|||||602|,T|intron_variant|MODIFIER|ACR|ENSG00000100312|transcript|ENST00000216139|protein_coding|3/4|c.565+14C>T||||||,T|intron_variant|MODIFIER|ACR|ENSG00000100312|transcript|ENST00000529621|protein_coding|3/3|c.565+14C>T||||||,T|non_coding_exon_variant|MODIFIER|ACR|ENSG00000100312|transcript|ENST00000533930|retained_intron|3/3|n.619C>T|||||| 22 51208005 . GTC G . . ANN=|downstream_gene_variant|MODIFIER|RABL2B|ENSG00000079974|transcript|ENST00000464678|retained_intron||n.*831_*831delGA|||||204|,|downstream_gene_variant|MODIFIER|RABL2B|ENSG00000079974|transcript|ENST00000395590|protein_coding||c.*483_*483delGA|||||1632|,|intron_variant|MODIFIER|RABL2B|ENSG00000079974|transcript|ENST00000395593|protein_coding|7/9|c.410-30_410-29delGA||||||,|intron_variant|MODIFIER|RPL23AP82|ENSG00000184319|transcript|ENST00000496652|processed_transcript|1/3|n.379+12253_379+12254delCT||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|RABL2B|ENSG00000079974|transcript|ENST00000435118|protein_coding|6/9|c.410-30_410-29delGA||||||,|intron_variant|MODIFIER|RABL2B|ENSG00000079974|transcript|ENST00000354869|protein_coding|6/8|c.410-27_410-26delGA||||||,|intron_variant|MODIFIER|RABL2B|ENSG00000079974|transcript|ENST00000425098|nonsense_mediated_decay|4/6|n.298-27_298-26delGA||||||,|intron_variant|MODIFIER|RABL2B|ENSG00000079974|transcript|ENST00000395598|protein_coding|6/8|c.410-30_410-29delGA||||||,|intron_variant|MODIFIER|RABL2B|ENSG00000079974|transcript|ENST00000395591|protein_coding|4/6|c.218-27_218-26delGA||||||,|intron_variant|MODIFIER|RABL2B|ENSG00000079974|transcript|ENST00000395595|protein_coding|7/9|c.410-27_410-26delGA||||||,|intron_variant|MODIFIER|RABL2B|ENSG00000079974|transcript|ENST00000436958|nonsense_mediated_decay|5/7|n.298-27_298-26delGA||||||,|non_coding_exon_variant|MODIFIER|RABL2B|ENSG00000079974|transcript|ENST00000465063|processed_transcript|1/3|n.924_925delGA||||||,|non_coding_exon_variant|MODIFIER|RABL2B|ENSG00000079974|transcript|ENST00000482308|retained_intron|2/2|n.500_501delGA|||||| 22 51216332 . G A,T . . ANN=A|upstream_gene_variant|MODIFIER|RABL2B|ENSG00000079974|transcript|ENST00000482308|retained_intron||n.-1C>T|||||2071|,T|upstream_gene_variant|MODIFIER|RABL2B|ENSG00000079974|transcript|ENST00000482308|retained_intron||n.-1C>A|||||2071|,A|downstream_gene_variant|MODIFIER|RABL2B|ENSG00000079974|transcript|ENST00000413505|protein_coding||c.*391C>T|||||4330|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|RABL2B|ENSG00000079974|transcript|ENST00000413505|protein_coding||c.*391C>A|||||4330|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|RABL2B|ENSG00000079974|transcript|ENST00000395593|protein_coding|4/9|c.137+48C>T||||||,T|intron_variant|MODIFIER|RABL2B|ENSG00000079974|transcript|ENST00000395593|protein_coding|4/9|c.137+48C>A||||||,A|intron_variant|MODIFIER|RPL23AP82|ENSG00000184319|transcript|ENST00000496652|processed_transcript|1/3|n.380-5216G>A||||||,T|intron_variant|MODIFIER|RPL23AP82|ENSG00000184319|transcript|ENST00000496652|processed_transcript|1/3|n.380-5216G>T||||||,A|intron_variant|MODIFIER|RABL2B|ENSG00000079974|transcript|ENST00000435118|protein_coding|3/9|c.137+48C>T||||||,T|intron_variant|MODIFIER|RABL2B|ENSG00000079974|transcript|ENST00000435118|protein_coding|3/9|c.137+48C>A||||||,A|intron_variant|MODIFIER|RABL2B|ENSG00000079974|transcript|ENST00000354869|protein_coding|3/8|c.137+48C>T||||||,T|intron_variant|MODIFIER|RABL2B|ENSG00000079974|transcript|ENST00000354869|protein_coding|3/8|c.137+48C>A||||||,A|intron_variant|MODIFIER|RABL2B|ENSG00000079974|transcript|ENST00000425098|nonsense_mediated_decay|2/6|n.137+48C>T||||||,T|intron_variant|MODIFIER|RABL2B|ENSG00000079974|transcript|ENST00000425098|nonsense_mediated_decay|2/6|n.137+48C>A||||||,A|intron_variant|MODIFIER|RABL2B|ENSG00000079974|transcript|ENST00000395598|protein_coding|3/8|c.137+48C>T||||||,T|intron_variant|MODIFIER|RABL2B|ENSG00000079974|transcript|ENST00000395598|protein_coding|3/8|c.137+48C>A||||||,A|intron_variant|MODIFIER|RABL2B|ENSG00000079974|transcript|ENST00000395591|protein_coding|3/6|c.137+48C>T||||||,T|intron_variant|MODIFIER|RABL2B|ENSG00000079974|transcript|ENST00000395591|protein_coding|3/6|c.137+48C>A||||||,A|intron_variant|MODIFIER|RABL2B|ENSG00000079974|transcript|ENST00000395595|protein_coding|4/9|c.137+48C>T||||||,T|intron_variant|MODIFIER|RABL2B|ENSG00000079974|transcript|ENST00000395595|protein_coding|4/9|c.137+48C>A||||||,A|intron_variant|MODIFIER|RABL2B|ENSG00000079974|transcript|ENST00000436958|nonsense_mediated_decay|3/7|n.137+48C>T||||||,T|intron_variant|MODIFIER|RABL2B|ENSG00000079974|transcript|ENST00000436958|nonsense_mediated_decay|3/7|n.137+48C>A||||||,A|intron_variant|MODIFIER|RABL2B|ENSG00000079974|transcript|ENST00000464678|retained_intron|3/5|n.436+48C>T||||||,T|intron_variant|MODIFIER|RABL2B|ENSG00000079974|transcript|ENST00000464678|retained_intron|3/5|n.436+48C>A||||||,A|intron_variant|MODIFIER|RABL2B|ENSG00000079974|transcript|ENST00000395590|protein_coding|3/5|c.137+48C>T||||||,T|intron_variant|MODIFIER|RABL2B|ENSG00000079974|transcript|ENST00000395590|protein_coding|3/5|c.137+48C>A||||||,A|intron_variant|MODIFIER|RABL2B|ENSG00000079974|transcript|ENST00000468451|nonsense_mediated_decay|4/5|n.*123+48C>T||||||,T|intron_variant|MODIFIER|RABL2B|ENSG00000079974|transcript|ENST00000468451|nonsense_mediated_decay|4/5|n.*123+48C>A||||||,A|non_coding_exon_variant|MODIFIER|RABL2B|ENSG00000079974|transcript|ENST00000464740|retained_intron|3/3|n.368C>T||||||,T|non_coding_exon_variant|MODIFIER|RABL2B|ENSG00000079974|transcript|ENST00000464740|retained_intron|3/3|n.368C>A||||||